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	A	T	G	C	Cg	cG	tCw	wGa	tCa	tGa	tCt	aGa	tC	Ga	tCh	dGa	cC	Gg	wrC	Gyw	Cc	gG	wA	Tw	tC_mutation	tC_mutation_to_G	tC_mutation_to_T	APOBEC_mutation	APOBEC_mutation_to_G	APOBEC_mutation_to_T	"CONTEXT(+/-20)"	a_counts	t_counts	g_counts	c_counts	cg_counts	tcw_counts	wga_counts	tca_counts	tga_counts	tct_counts	aga_counts	tc_counts	ga_counts	tch_counts	dga_counts	cc_counts	gg_counts	wrc_counts	gyw_counts	cc_counts	gg_counts	wa_counts	tw_counts	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut	newbase	end	tum_allele1	tum_allele2	start	effect_idx	newbase_idx	pat_idx	is_coding	is_flank	is_indel	is_ins	is_del	is_missense	is_nonsense	is_splice	is_silent	gene_idx	context_and_effect	context65	categ_idx	trackpos	categ	gene	chr	pos	type	classification	ref_allele	patient	DistBetween_Mutations	Distance_to_LT_end	Distance_to_RT_end	Strain_Mutation_ID	Dataset_Mutation_ID	Complex_ID	Complex_Size	StrainCluster_ID	Dataset_Cluster_ID	Distance_Between_Clusters	Cluster_Size_Mutations	Cluster_Size_Complexes	Cluster_Length	Cluster_Coordination	Content_of_non_coordinated_cluster	Cluster_Pvalue
TTLL7	79739	broad.mit.edu	37	chr1	84356051	84356051	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttggccacgactccagagTaagcgattaaaaacccggtt	12	8	9	12	3	0	1	0	0	0	1	1	3	1	1	4	2	2	2	4	2	4	4			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr1:84356051T>C	uc001djc.3	-	18	2718	c.2322A>G	c.(2320-2322)ttA>ttG	p.L774L	TTLL7_uc001djb.3_Non-coding_Transcript|TTLL7_uc001djd.3_Non-coding_Transcript|TTLL7_uc001dje.3_Non-coding_Transcript|TTLL7_uc001djf.3_Non-coding_Transcript|TTLL7_uc001djg.3_Non-coding_Transcript	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 7 (TTLL7), mRNA.	774					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GACTCCAGAGTAAGCGATTAA	0.378													27	31					0	0	0.010818	0	0	C	84356051	T	C	84356051	2	2	1	1	0	0	0	0	0	0	0	1	16729	1635	57	3		3	TTLL7	1	84356051	Silent	SNP	T	TCGA-CS-4938-01B-11D-1893-08		84356051	164894570	1	1											
ANXA9	8416	broad.mit.edu	37	chr1	150955565	150955565	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctcctgtttccttccccaGggcaaccagtagcaccatgt	7	10	9	15	0	0	0	0	0	0	0	3	0	3	0	6	2	2	5	6	2	2	3			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr1:150955565G>A	uc001ewa.2	+	3	455	c.-15_splice	c.e3-1			NM_003568	NP_003559	O76027	ANXA9_HUMAN	Homo sapiens annexin A9 (ANXA9), mRNA.						cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCTTCCCCAGGGCAACCAGT	0.622													5	69					0	0	0.001984	0	0	A	150955565	G	A	150955565	5	1	1	1	0	0	0	0	0	0	1	0	725	1014	35	3		3	ANXA9	1	150955565	Splice_Site	SNP	G	TCGA-CS-4938-01B-11D-1893-08	66599514	150955565	98295056	2	2											
TPO	7173	broad.mit.edu	37	chr2	1499888	1499888	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatggatgccttccaagtcGgcaaattccccgaagacttt	10	10	8	13	2	0	1	0	0	0	1	3	3	2	2	5	2	1	1	5	2	3	3			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr2:1499888G>A	uc002qwr.3	+	11	2220	c.2134G>A	c.(2134-2136)Ggc>Agc	p.G712S	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.G712S|TPO_uc002qwx.3_Missense_Mutation_p.G655S|TPO_uc002qwu.3_Missense_Mutation_p.G655S|TPO_uc010yio.2_Missense_Mutation_p.G539S|TPO_uc010yip.2_Missense_Mutation_p.G712S|TPO_uc002qwy.1_Missense_Mutation_p.G52S|TPO_uc002qwz.3_Intron	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	712					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.G712D(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTTCCAAGTCGGCAAATTCCC	0.562													7	42					0	0	0.010729	0	0	A	1499888	G	A	1499888	3	1	1	1	0	0	0	0	1	0	0	0	16407	1116	39	2	2176	2	TPO	2	1499888	Missense_Mutation	SNP	G	TCGA-CS-4938-01B-11D-1893-08		1499888	241699485	3	3											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								25	44					0	0	0.00632	0	0	T	209113112	C	T	209113112	3	4	1	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CS-4938-01B-11D-1893-08	207613224	209113112	34086261	4	4											
APPL1	26060	broad.mit.edu	37	chr3	57291436	57291436	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatcagcctggccaggcaaaAgcctttggccagggaggcag	10	5	15	11	0	1	0	1	0	0	0	1	2	1	1	4	5	2	2	4	5	2	1			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr3:57291436A>G	uc003dio.3	+	14	1557	c.1410A>G	c.(1408-1410)aaA>aaG	p.K470K	APPL1_uc010hnb.3_Silent_p.K470K|APPL1_uc011bey.1_Silent_p.K453K	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 (APPL1), mRNA.	470					apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GCCAGGCAAAAGCCTTTGGCC	0.493													3	98					0	0	0.004672	0	0	G	57291436	A	G	57291436	2	3	1	1	0	0	0	0	0	0	0	1	817	69	3	4		4	APPL1	3	57291436	Silent	SNP	A	TCGA-CS-4938-01B-11D-1893-08		57291436	140730994	5	5											
LEPREL1	55214	broad.mit.edu	37	chr3	189705423	189705423	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatggcatagaagataggCtttggcacactccagggctt	10	10	13	8	0	0	2	0	0	0	2	1	3	1	3	1	5	0	4	1	5	3	4			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr3:189705423C>A	uc011bsk.2	-	4	1379	c.991G>T	c.(991-993)Gcc>Tcc	p.A331S	LEPREL1_uc003fsg.3_Missense_Mutation_p.A150S	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	331					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AGAAGATAGGCTTTGGCACAC	0.468													25	92					8.58068e-18	1.33226e-17	0.007291	1	0	A	189705423	C	A	189705423	3	1	1	1	0	0	0	0	1	0	0	0	8730	797	28	5	1179	5	LEPREL1	3	189705423	Missense_Mutation	SNP	C	TCGA-CS-4938-01B-11D-1893-08	132413987	189705423	8317007	6	6											
FGF5	2250	broad.mit.edu	37	chr4	81207632	81207632	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaacgagggtgcagccccCgggttaaaccccagcatatc	11	5	10	15	2	0	0	0	0	0	0	1	1	0	0	5	2	5	3	5	2	4	2			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr4:81207632C>G	uc003hmd.3	+	2	850	c.613C>G	c.(613-615)Cgg>Ggg	p.R205G	FGF5_uc003hme.3_3'UTR	NM_004464	NP_004455	P12034	FGF5_HUMAN	Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA.	205					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity	p.R205Q(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						GTGCAGCCCCCGGGTTAAACC	0.463													49	88					0	0	0.01441	0	0	G	81207632	C	G	81207632	3	3	1	1	0	0	0	0	1	0	0	0	5855	643	23	5	623	5	FGF5	4	81207632	Missense_Mutation	SNP	C	TCGA-CS-4938-01B-11D-1893-08		81207632	109946644	7	7											
ENPEP	2028	broad.mit.edu	37	chr4	111441429	111441429	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccagacagatgggttatcCtgtgcttaacgtgaacggtg	10	10	13	8	2	0	3	0	1	0	2	1	4	1	3	2	2	3	2	2	2	3	2			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr4:111441429C>G	uc003iab.4	+	9	1976	c.1634C>G	c.(1633-1635)cCt>cGt	p.P545R		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	545					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)	ATGGGTTATCCTGTGCTTAAC	0.428													34	36					0	0	0.013726	0	0	G	111441429	C	G	111441429	3	3	1	1	0	0	0	0	1	0	0	0	5128	681	24	5	1672	5	ENPEP	4	111441429	Missense_Mutation	SNP	C	TCGA-CS-4938-01B-11D-1893-08	30233797	111441429	79712847	8	8											
ADAD1	132612	broad.mit.edu	37	chr4	123336616	123336616	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactcacttcaaaacttccAatgttttacttagtcaacag	13	13	4	11	0	3	0	3	0	0	0	4	0	4	0	1	0	3	2	1	0	6	5			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr4:123336616A>T	uc003ieo.3	+	10	1564	c.1332A>T	c.(1330-1332)ccA>ccT	p.P444P	ADAD1_uc003iep.3_Silent_p.P433P|ADAD1_uc003ieq.3_Silent_p.P426P	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	444	A to I editase.				RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						CAAAACTTCCAATGTTTTACT	0.378													62	101					0	0	0.01441	0	0	T	123336616	A	T	123336616	2	4	1	1	0	0	0	0	0	0	0	1	231	117	5	5		5	ADAD1	4	123336616	Silent	SNP	A	TCGA-CS-4938-01B-11D-1893-08	11895187	123336616	67817660	9	9											
TKTL2	84076	broad.mit.edu	37	chr4	164393959	164393959	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accaactttgtaagcaggtgGggaggtcatttttatatctg	10	14	11	6	0	2	0	1	0	1	0	2	1	2	1	1	4	2	2	1	4	4	6			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr4:164393959G>C	uc003iqp.4	-	0	1089	c.928C>G	c.(928-930)Cca>Gca	p.P310A		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	310						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				taagcaggtggggaggtcatt	0.408													13	205					0	0	0.00245	0	0	C	164393959	G	C	164393959	3	2	1	1	0	0	0	0	1	0	0	0	15933	1232	43	5	956	5	TKTL2	4	164393959	Missense_Mutation	SNP	G	TCGA-CS-4938-01B-11D-1893-08	41057343	164393959	26760317	10	10											
TRERF1	55809	broad.mit.edu	37	chr6	42196227	42196227	+	Frame_Shift_Del	DEL	G	G	-																															tccacatccttgatgggtttGatcagactcagctggtccag																										TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr6:42196227delG	uc003ose.2	-	17	4082	c.3519delC	c.(3517-3519)atcfs	p.I1173fs	TRERF1_uc011duq.1_Frame_Shift_Del_p.I1070fs|TRERF1_uc003osb.2_Frame_Shift_Del_p.I921fs|TRERF1_uc003osc.2_Frame_Shift_Del_p.I909fs|TRERF1_uc003osd.2_Frame_Shift_Del_p.I1153fs	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	1153	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGATGGGTTTGATCAGACTCA	0.602													7	400	---	---	---	---						-	42196227	G	-	42196227	7	5	1	1	0	1	0	1	0	0	0	0	16472	1280	45	0	147	0	TRERF1	6	42196227	Frame_Shift_Del	DEL	G	TCGA-CS-4938-01B-11D-1893-08		42196227	128918840	11	11											
NFE2L3	9603	broad.mit.edu	37	chr7	26224962	26224962	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctaaagctttgcatatcccTttttctgtagatgaaattgt	10	17	7	7	0	1	2	0	1	1	1	2	2	2	2	1	0	2	4	1	0	5	7			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr7:26224962T>C	uc003sxq.3	+	3	1916	c.1644T>C	c.(1642-1644)ccT>ccC	p.P548P		NM_004289	NP_004280	Q9Y4A8	NF2L3_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2)-like 3 (NFE2L3), mRNA.	548					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.I547F(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TGCATATCCCTTTTTCTGTAG	0.418													3	143					0	0	0.004672	0	0	C	26224962	T	C	26224962	2	2	1	1	0	0	0	0	0	0	0	1	10369	1596	56	4		4	NFE2L3	7	26224962	Silent	SNP	T	TCGA-CS-4938-01B-11D-1893-08		26224962	132913701	12	12											
ADAM22	53616	broad.mit.edu	37	chr7	87757957	87757957	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtagaagaagaaaccaaatAcattgaactgatgattgtga	18	10	9	4	0	0	7	0	4	0	3	0	7	0	7	1	0	3	1	1	0	7	4			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr7:87757957A>G	uc003ujn.3	+	8	934	c.719A>G	c.(718-720)tAc>tGc	p.Y240C	ADAM22_uc003uji.2_Missense_Mutation_p.Y239C|ADAM22_uc003ujj.2_Missense_Mutation_p.Y240C|ADAM22_uc003ujk.2_Missense_Mutation_p.Y240C|ADAM22_uc003ujl.2_Missense_Mutation_p.Y240C|ADAM22_uc003ujm.3_Missense_Mutation_p.Y240C|ADAM22_uc003ujo.3_Missense_Mutation_p.Y240C|ADAM22_uc003ujp.1_Missense_Mutation_p.Y292C	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	240	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GAAACCAAATACATTGAACTG	0.403													12	117					0	0	0.003163	0	0	G	87757957	A	G	87757957	3	3	1	1	0	0	0	0	1	0	0	0	244	391	14	3	753	3	ADAM22	7	87757957	Missense_Mutation	SNP	A	TCGA-CS-4938-01B-11D-1893-08	61532995	87757957	71380706	13	13											
JHDM1D	80853	broad.mit.edu	37	chr7	139824520	139824520	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctgggtcacagatgaacTccaagattcataacgtgcca	13	9	8	11	1	3	3	2	1	1	2	4	3	4	3	2	1	3	0	2	1	3	2			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr7:139824520T>G	uc003vvm.3	-	6	956	c.952A>C	c.(952-954)Agt>Cgt	p.S318R		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	318	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					ACAGATGAACTCCAAGATTCA	0.358													18	32					0	0	0.006122	0	0	G	139824520	T	G	139824520	3	3	1	1	0	0	0	0	1	0	0	0	7948	1551	54	5	1929	5	JHDM1D	7	139824520	Missense_Mutation	SNP	T	TCGA-CS-4938-01B-11D-1893-08	52066563	139824520	19314143	14	14											
ARHGAP22	58504	broad.mit.edu	37	chr10	49791051	49791051	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagctgatccccacgcaGcacaaaccagcgctgctgcc	12	4	9	16	2	0	1	0	1	0	0	1	2	1	1	4	0	6	5	4	0	3	0			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr10:49791051G>A	uc001jgu.3	-	1	478	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L	ARHGAP22_uc001jgt.3_Silent_p.L61L|ARHGAP22_uc010qgl.2_Silent_p.L61L|ARHGAP22_uc010qgm.2_Silent_p.L67L|ARHGAP22_uc001jgv.3_5'UTR	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	61	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCCCACGCAGCACAAACCAG	0.607													4	226					0	0	0.000602	0	0	A	49791051	G	A	49791051	2	1	1	1	0	0	0	0	0	0	0	1	872	962	34	3		3	ARHGAP22	10	49791051	Silent	SNP	G	TCGA-CS-4938-01B-11D-1893-08		49791051	85743696	15	15											
MRGPRX4	117196	broad.mit.edu	37	chr11	18195379	18195379	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttatgtgtggttctctgTgtttccagcctggtcctgct	2	20	10	9	0	1	0	0	0	1	0	4	0	3	0	3	2	2	3	3	2	1	5			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr11:18195379T>C	uc001mnv.1	+	0	996	c.576T>C	c.(574-576)tgT>tgC	p.C192C		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	Homo sapiens MAS-related GPR, member X4 (MRGPRX4), mRNA.	192						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TGGTTCTCTGTGTTTCCAGCC	0.522													5	157					0	0	0.000602	0	0	C	18195379	T	C	18195379	2	2	1	1	0	0	0	0	0	0	0	1	9769	1702	59	3		3	MRGPRX4	11	18195379	Silent	SNP	T	TCGA-CS-4938-01B-11D-1893-08		18195379	116811137	16	16											
PUS7L	83448	broad.mit.edu	37	chr12	44149037	44149037	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacctgattctataatctgtAtcttcttccattcttctata	10	19	2	10	0	6	1	0	1	6	0	7	1	7	1	2	0	1	1	2	0	6	10			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr12:44149037A>G	uc001rns.4	-	1	92	c.12T>C	c.(10-12)gaT>gaC	p.D4D	PUS7L_uc001rnq.4_Silent_p.D4D|PUS7L_uc001rnr.4_Silent_p.D4D|PUS7L_uc009zkb.3_Intron	NM_031292	NP_112582	Q9H0K6	PUS7L_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae)-like (PUS7L), transcript variant 3, mRNA.	4					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TATAATCTGTATCTTCTTCCA	0.333													5	28					0	0	0.000602	0	0	G	44149037	A	G	44149037	2	3	1	1	0	0	0	0	0	0	0	1	12834	446	16	3		3	PUS7L	12	44149037	Silent	SNP	A	TCGA-CS-4938-01B-11D-1893-08		44149037	89702858	17	17											
ATP2C2	9914	broad.mit.edu	37	chr16	84476138	84476138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggctgtgttgccaacaatgCggtcatcagaaagaacgccg	11	7	13	10	3	2	2	2	0	0	2	2	2	2	2	2	2	4	2	2	2	4	1			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr16:84476138C>T	uc010chj.3	+	14	1423	c.1334C>T	c.(1333-1335)gCg>gTg	p.A445V	ATP2C2_uc002fhx.3_Missense_Mutation_p.A445V|ATP2C2_uc002fhy.3_Missense_Mutation_p.A462V|ATP2C2_uc002fhz.3_Missense_Mutation_p.A294V	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	445					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GCCAACAATGCGGTCATCAGA	0.552													8	363					0	0	0.008291	0	0	T	84476138	C	T	84476138	3	4	1	1	0	0	0	0	1	0	0	0	1144	768	27	1	1392	1	ATP2C2	16	84476138	Missense_Mutation	SNP	C	TCGA-CS-4938-01B-11D-1893-08		84476138	5878615	18	18											
PRPF8	10594	broad.mit.edu	37	chr17	1577065	1577065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacatcatgtttcatgaggcGcatgcgggcatctcggggcc	8	9	13	11	3	3	1	2	1	1	0	4	1	3	1	1	4	2	3	1	4	1	1			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr17:1577065G>A	uc002fte.3	-	21	3535	c.3421C>T	c.(3421-3423)Cgc>Tgc	p.R1141C		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1141						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTCATGAGGCGCATGCGGGCA	0.517													5	159					0	0	0.001168	0	0	A	1577065	G	A	1577065	3	1	1	1	0	0	0	0	1	0	0	0	12575	1087	38	1	3674	1	PRPF8	17	1577065	Missense_Mutation	SNP	G	TCGA-CS-4938-01B-11D-1893-08		1577065	79618145	19	19											
TP53	7157	broad.mit.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	6	8	16	11	2	1	1	1	1	0	0	2	3	2	2	4	5	2	2	4	5	0	1	rs121912651		TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr17:7577539G>A	uc002gim.2	-	6	936	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.3_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W|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.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(1057)|p.R248Q(565)|p.R248L(70)|p.R155W(28)|p.R248G(24)|p.R248P(16)|p.R248R(12)|p.N247N(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.M246_P250delMNRRP(4)|p.N247_R248>KW(4)|p.N247_R248delNR(4)|p.N247T(4)|p.R248fs*97(4)|p.N247I(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247K(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.N247_R248>IP(2)|p.R248fs*>39(1)|p.unknown(1)|p.N247F(1)|p.N247fs*98(1)|p.R248Y(1)|p.G245fs*14(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)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)			75	17					0	0	0.01441	0	0	A	7577539	G	A	7577539	3	1	1	1	0	0	0	0	1	0	0	0	16378	1115	39	2	548	2	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-CS-4938-01B-11D-1893-08	6000474	7577539	73617671	20	20											
C3	718	broad.mit.edu	37	chr19	6686853	6686853	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccacagtgtaggatctctGtaggttcatgtagttggctt	7	14	13	7	0	2	0	1	0	1	0	3	1	2	1	1	4	0	6	1	4	3	6			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr19:6686853G>A	uc002mfm.3	-	27	3612	c.3550C>T	c.(3550-3552)Cag>Tag	p.Q1184*		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1184					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TAGGATCTCTGTAGGTTCATG	0.512													21	119					0	0	0.010504	0	0	A	6686853	G	A	6686853	4	1	1	1	0	0	0	0	0	1	0	0	2204	1386	48	3	1497	3	C3	19	6686853	Nonsense_Mutation	SNP	G	TCGA-CS-4938-01B-11D-1893-08		6686853	52442130	21	21											
KLK10	5655	broad.mit.edu	37	chr19	51518742	51518742	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaccacgccagggtagaaGacctcacactctttagggct	10	8	11	12	1	2	3	1	1	1	2	2	3	2	3	3	2	0	2	3	2	3	3			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr19:51518742G>A	uc002pva.3	-	4	729	c.609C>T	c.(607-609)gtC>gtT	p.V203V	KLK10_uc002puy.3_Silent_p.V203V|KLK10_uc002puz.3_Silent_p.V203V	NM_001077500	NP_665895	O43240	KLK10_HUMAN	Homo sapiens kallikrein-related peptidase 10 (KLK10), transcript variant 3, mRNA.	203	Peptidase S1.				cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CAGGGTAGAAGACCTCACACT	0.552													111	220					0	0	0.01441	0	0	A	51518742	G	A	51518742	2	1	1	1	0	0	0	0	0	0	0	1	8398	929	33	3		3	KLK10	19	51518742	Silent	SNP	G	TCGA-CS-4938-01B-11D-1893-08	44831889	51518742	7610241	22	22											
SLC5A1	6523	broad.mit.edu	37	chr22	32498215	32498215	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcaccaaacccattccGgatgtgcatgtgagtatcca	10	10	7	14	1	1	1	1	1	0	0	4	2	4	2	5	1	2	2	5	1	2	2			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr22:32498215G>A	uc003amc.3	+	12	1906	c.1656G>A	c.(1654-1656)ccG>ccA	p.P552P	SLC5A1_uc011alz.2_Silent_p.P425P	NM_000343	NP_000334	P13866	SC5A1_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.	552					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	p.P552P(2)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						AACCCATTCCGGATGTGCATG	0.403													7	209					0	0	0.004482	0	0	A	32498215	G	A	32498215	2	1	1	1	0	0	0	0	0	0	0	1	14661	1103	39	2		2	SLC5A1	22	32498215	Silent	SNP	G	TCGA-CS-4938-01B-11D-1893-08		32498215	18806351	23	23											
RPS19BP1	91582	broad.mit.edu	37	chr22	39925565	39925565	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacacggtgccctcagcctTcttcttcttggtcttggcca	5	13	9	14	1	5	0	1	0	4	0	5	1	5	0	3	3	3	0	3	3	1	5	rs138779327	by1000genomes	TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr22:39925565T>C	uc003ayb.3	-	3	460	c.343A>G	c.(343-345)Aag>Gag	p.K115E		NM_194326	NP_919307	Q86WX3	AROS_HUMAN	Homo sapiens ribosomal protein S19 binding protein 1 (RPS19BP1), mRNA.	115						nucleolus|nucleoplasm				endometrium(1)|kidney(1)|large_intestine(1)	3	Melanoma(58;0.04)					CCCTCAGCCTTCTTCTTCTTG	0.607											OREG0026578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	121					0	0	0.004672	0	0	C	39925565	T	C	39925565	3	2	1	1	0	0	0	0	1	0	0	0	13630	1792	62	3	71	3	RPS19BP1	22	39925565	Missense_Mutation	SNP	T	TCGA-CS-4938-01B-11D-1893-08	7427350	39925565	11379001	24	24											
ATRX	546	broad.mit.edu	37	chrX	76939674	76939674	+	Frame_Shift_Del	DEL	T	T	-																															ttggctgtggtctcaatcagTttttttgccttcttaatcat																										TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chrX:76939674delT	uc004ecp.4	-	8	1306	c.1074delA	c.(1072-1074)aaafs	p.K358fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K320fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K143fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K319fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K358fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K303fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	358					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCTCAATCAGTTTTTTTGCCT	0.368			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						100	144	---	---	---	---						-	76939674	T	-	76939674	7	5	1	1	0	1	0	1	0	0	0	0	1208	1722	60	0	6512	0	ATRX	23	76939674	Frame_Shift_Del	DEL	T	TCGA-CS-4938-01B-11D-1893-08		76939674	78330886	25	25											
ACTRT1	139741	broad.mit.edu	37	chrX	127186136	127186136	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgctttgcagagtcctgaaCcattgtcaaaaattacagca	13	11	7	10	0	1	2	1	1	0	1	2	2	2	2	2	0	5	3	2	0	4	3			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chrX:127186136C>A	uc004eum.3	-	0	247	c.50G>T	c.(49-51)gGt>gTt	p.G17V		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	17						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GAGTCCTGAACCATTGTCAAA	0.433													40	64					2.87052e-16	4.34258e-16	0.005524	1	0	A	127186136	C	A	127186136	3	1	1	1	0	0	0	0	1	0	0	0	218	507	18	5	1084	5	ACTRT1	23	127186136	Missense_Mutation	SNP	C	TCGA-CS-4938-01B-11D-1893-08	50246462	127186136	28084424	26	26											
ZNF185	7739	broad.mit.edu	37	chrX	152083048	152083048	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaccatgagtatctcagcTcttggaggccgcaccaaagg	11	8	10	12	1	3	1	2	1	2	0	4	2	3	2	3	3	1	3	3	3	2	2			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chrX:152083048T>C	uc011myg.2	+	0	63	c.15T>C	c.(13-15)gcT>gcC	p.A5A	ZNF185_uc011myi.2_Silent_p.A5A|ZNF185_uc011myj.2_Silent_p.A5A|ZNF185_uc011myh.2_Silent_p.A5A|ZNF185_uc011myk.2_Silent_p.A5A|ZNF185_uc010ntv.2_Silent_p.A5A	NM_001178106	NP_001171577	O15231	ZN185_HUMAN	Homo sapiens zinc finger protein 185 (LIM domain) (ZNF185), transcript variant 1, mRNA.	5						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					GTATCTCAGCTCTTGGAGGCC	0.547													7	6					0	0	0.006214	0	0	C	152083048	T	C	152083048	2	2	1	1	0	0	0	0	0	0	0	1	17749	1538	54	4		4	ZNF185	23	152083048	Silent	SNP	T	TCGA-CS-4938-01B-11D-1893-08	24896912	152083048	3187512	27	27											
NBL1	4681	broad.mit.edu	37	chr1	19981874	19981874	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaccttcccacagtccacAgagtccctggttcactgtga	10	9	7	15	0	1	2	1	1	0	1	4	2	4	2	4	1	1	1	4	1	1	2			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr1:19981874A>C	uc001bcj.2	+	2	416	c.333A>C	c.(331-333)acA>acC	p.T111T	NBL1_uc021ohw.1_Silent_p.T90T|NBL1_uc009vpl.2_Silent_p.T76T|NBL1_uc009vpm.2_Silent_p.T76T|NBL1_uc001bck.2_Silent_p.T76T|NBL1_uc021ohy.1_Silent_p.T75T|NBL1_uc021ohz.1_Silent_p.T110T	NM_182744	NP_001191018	P41271	NBL1_HUMAN	Homo sapiens neuroblastoma, suppression of tumorigenicity 1 (NBL1), transcript variant 1, mRNA.	75	CTCK.					extracellular region				lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CACAGTCCACAGAGTCCCTGG	0.622													28	64					0	0	1	0	0	C	19981874	A	C	19981874	2	2	2	1	0	0	0	0	0	0	0	1	10190	175	7	5		5	NBL1	1	19981874	Silent	SNP	A	TCGA-CS-4941-01A-01D-1468-08		19981874	229268747	1	28											
ERI3	79033	broad.mit.edu	37	chr1	44804751	44804751	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcttgtcgcacgtggccTcaaagtccagcactaaaaag	11	8	11	11	2	1	0	1	0	0	0	3	0	2	0	2	2	1	3	2	2	4	2			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr1:44804751T>G	uc001clt.3	-	2	696	c.455A>C	c.(454-456)gAg>gCg	p.E152A	ERI3_uc010okv.2_Intron|ERI3_uc010okw.2_Missense_Mutation_p.E74A	NM_024066	NP_076971	O43414	ERI3_HUMAN	Homo sapiens ERI1 exoribonuclease family member 3 (ERI3), mRNA.	152	Exonuclease.					intracellular	exonuclease activity|metal ion binding|nucleic acid binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCACGTGGCCTCAAAGTCCAG	0.547													145	229					0	0	1	0	0	G	44804751	T	G	44804751	3	3	2	1	0	0	0	0	1	0	0	0	5229	1551	54	5	586	5	ERI3	1	44804751	Missense_Mutation	SNP	T	TCGA-CS-4941-01A-01D-1468-08	24822877	44804751	204445870	2	29											
ANKRD34A	284615	broad.mit.edu	37	chr1	145473827	145473827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaattctccaccatccccaGgggtggaggaccctgctccc	7	8	9	17	0	2	0	1	0	1	0	5	2	4	2	6	4	1	1	6	4	1	1			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr1:145473827G>A	uc021ouy.1	+	0	499	c.499G>A	c.(499-501)Ggg>Agg	p.G167R	ANKRD34A_uc001enq.1_Missense_Mutation_p.G167R	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	Homo sapiens ankyrin repeat domain 34A (ANKRD34A), mRNA.	167										endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACCATCCCCAGGGGTGGAGGA	0.617													23	94					0	0	1	0	0	A	145473827	G	A	145473827	3	1	2	1	0	0	0	0	1	0	0	0	662	1000	35	3	501	3	ANKRD34A	1	145473827	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	100669076	145473827	103776794	3	30											
FLG	2312	broad.mit.edu	37	chr1	152275719	152275719	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtttctggaagcagaCtcagatcgcctctcagagtc	9	11	11	10	1	3	4	2	1	2	3	6	5	3	5	1	2	1	2	1	2	1	1			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr1:152275719C>T	uc001ezu.1	-	2	11679	c.11643G>A	c.(11641-11643)gaG>gaA	p.E3881E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3881	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGAAGCAGACTCAGATCGCC	0.567									Ichthyosis				43	158					0	0	1	0	0	T	152275719	C	T	152275719	2	4	2	1	0	0	0	0	0	0	0	1	5922	564	20	3		3	FLG	1	152275719	Silent	SNP	C	TCGA-CS-4941-01A-01D-1468-08	6801892	152275719	96974902	4	31											
CRNN	49860	broad.mit.edu	37	chr1	152383181	152383181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataatgctgccctttccccGcccttcccacttcagtgcca	6	11	5	19	1	1	0	1	0	0	0	3	0	3	0	6	0	3	1	6	0	1	4			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr1:152383181G>A	uc001ezx.2	-	2	451	c.377C>T	c.(376-378)gCg>gTg	p.A126V		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	126					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTTTCCCCGCCCTTCCCAC	0.637													13	448					0	0	1	0	0	A	152383181	G	A	152383181	3	1	2	1	0	0	0	0	1	0	0	0	3892	1087	38	1	1114	1	CRNN	1	152383181	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	107462	152383181	96867440	5	32											
PEAR1	375033	broad.mit.edu	37	chr1	156883725	156883725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccaccatccgggacctgcCcagcttgccagggggccccc	5	5	12	19	1	0	0	0	0	0	0	1	1	1	1	8	3	4	1	8	3	0	1			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr1:156883725C>T	uc001fqj.1	+	21	2911	c.2795C>T	c.(2794-2796)cCc>cTc	p.P932L	PEAR1_uc001fqk.1_Missense_Mutation_p.P557L	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	932	Pro-rich.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGGGACCTGCCCAGCTTGCCA	0.617													33	40					0	0	1	0	0	T	156883725	C	T	156883725	3	4	2	1	0	0	0	0	1	0	0	0	11712	623	22	3	2877	3	PEAR1	1	156883725	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	4500544	156883725	92366896	6	33											
PAPPA2	60676	broad.mit.edu	37	chr1	176525627	176525627	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttggctgggggccaaggttCgaagacccagagcttctcca	8	8	14	11	1	1	2	0	0	1	2	3	3	1	2	3	4	1	4	3	4	2	3			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr1:176525627C>T	uc001gkz.3	+	1	1333	c.169C>T	c.(169-171)Cga>Tga	p.R57*	PAPPA2_uc001gky.1_Nonsense_Mutation_p.R57*|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	57					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGCCAAGGTTCGAAGACCCAG	0.567													113	132					0	0	1	0	0	T	176525627	C	T	176525627	4	4	2	1	0	0	0	0	0	1	0	0	11433	876	31	2	171	2	PAPPA2	1	176525627	Nonsense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	19641902	176525627	72724994	7	34											
RGS21	431704	broad.mit.edu	37	chr1	192321182	192321182	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatatattttatagctggtCtagatgcttttcgaatattt	10	20	6	5	1	2	1	1	0	1	1	3	2	2	1	0	1	2	2	0	1	7	10			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr1:192321182C>A	uc001gsh.3	+	3	268	c.94C>A	c.(94-96)Cta>Ata	p.L32I		NM_001039152	NP_001034241	Q2M5E4	RGS21_HUMAN	Homo sapiens regulator of G-protein signaling 21 (RGS21), mRNA.	32	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						TATAGCTGGTCTAGATGCTTT	0.303													19	41					1.56452e-12	1.71055e-12	1	1	0	A	192321182	C	A	192321182	3	1	2	1	0	0	0	0	1	0	0	0	13304	912	32	5	104	5	RGS21	1	192321182	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	15795555	192321182	56929439	8	35											
IKBKE	9641	broad.mit.edu	37	chr1	206647731	206647731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccagctacctgcggcccCgcgaggtgcaagtgagggag	8	5	15	13	3	0	1	0	1	0	0	0	3	0	2	4	3	5	2	4	3	3	2	rs143140330		TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr1:206647731C>T	uc001hdz.2	+	3	723	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C	IKBKE_uc009xbu.2_Missense_Mutation_p.R49C|IKBKE_uc001hea.2_5'UTR|IKBKE_uc009xbv.2_Missense_Mutation_p.R49C	NM_014002	NP_001180250	Q14164	IKKE_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon (IKBKE), transcript variant 1, mRNA.	49	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	PML body|cytosol|endosome membrane|plasma membrane	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CCTGCGGCCCCGCGAGGTGCA	0.582													23	31					0	0	1	0	0	T	206647731	C	T	206647731	3	4	2	1	0	0	0	0	1	0	0	0	7612	652	23	2	151	2	IKBKE	1	206647731	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	14326549	206647731	42602890	9	36											
SOCS5	9655	broad.mit.edu	37	chr2	46985884	46985884	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaactgggattaagcccttCgaagaattcttcaaggagaa	15	9	9	8	1	2	2	1	0	1	2	3	5	2	3	1	2	2	0	1	2	6	4			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr2:46985884C>A	uc021vgx.1	+	0	215	c.215C>A	c.(214-216)tCg>tAg	p.S72*	SOCS5_uc002rvf.3_Nonsense_Mutation_p.S72*|SOCS5_uc002rvg.3_Nonsense_Mutation_p.S72*	NM_144949	NP_659198	O75159	SOCS5_HUMAN	Homo sapiens suppressor of cytokine signaling 5 (SOCS5), transcript variant 2, mRNA.	72					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of T-helper 2 cell differentiation|negative regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TTAAGCCCTTCGAAGAATTCT	0.388													3	94					1	1	1	1	0	A	46985884	C	A	46985884	4	1	2	1	0	0	0	0	0	1	0	0	14917	893	31	5	217	5	SOCS5	2	46985884	Nonsense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08		46985884	196213489	10	37											
CLASP1	23332	broad.mit.edu	37	chr2	122139824	122139824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagagccttgtgggagggagCggtggggatggagttaggct	7	8	22	4	1	0	1	0	0	0	1	0	6	0	5	1	7	2	2	1	7	1	2			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr2:122139824C>T	uc002tnc.3	-	31	3838	c.3448G>A	c.(3448-3450)Gct>Act	p.A1150T	CLASP1_uc010yyv.2_Intron|CLASP1_uc002tmz.3_Missense_Mutation_p.A236T|CLASP1_uc002tna.3_Intron|CLASP1_uc010yyw.2_Intron|CLASP1_uc002tnb.3_Intron|CLASP1_uc010yyx.2_Intron|CLASP1_uc010yyy.2_Intron|CLASP1_uc010yyz.2_Intron|CLASP1_uc010yza.2_Intron|CLASP1_uc021vnl.1_Intron|CLASP1_uc010yzc.2_Intron|CLASP1_uc002tnf.3_Intron	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA.	1151					G2/M transition of mitotic cell cycle|axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	Golgi apparatus|centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TGGGAGGGAGCGGTGGGGATG	0.522													10	11					0	0	1	0	0	T	122139824	C	T	122139824	3	4	2	1	0	0	0	0	1	0	0	0	3454	768	27	1	1197	1	CLASP1	2	122139824	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	75153940	122139824	121059549	11	38											
BIN1	274	broad.mit.edu	37	chr2	127828379	127828379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggagatccttctgcagcCgggtgccctccgtctgcaaa	6	9	11	15	3	2	1	0	0	2	1	5	2	5	1	5	2	4	2	5	2	1	1			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr2:127828379C>T	uc002tns.2	-	2	563	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	BIN1_uc010yzf.2_Missense_Mutation_p.R36Q|BIN1_uc002tnt.2_Missense_Mutation_p.R60Q|BIN1_uc010yzg.2_Missense_Mutation_p.R60Q|BIN1_uc002tnu.2_Missense_Mutation_p.R60Q|BIN1_uc002tnv.2_Missense_Mutation_p.R60Q|BIN1_uc002tnw.2_Missense_Mutation_p.R60Q|BIN1_uc002tnx.2_Missense_Mutation_p.R60Q|BIN1_uc002tny.2_Missense_Mutation_p.R60Q|BIN1_uc002tnz.2_Missense_Mutation_p.R60Q|BIN1_uc002toa.2_Missense_Mutation_p.R60Q|BIN1_uc002tob.2_Missense_Mutation_p.R60Q|BIN1_uc002toc.2_Missense_Mutation_p.R60Q	NM_139343	NP_647593	O00499	BIN1_HUMAN	Homo sapiens bridging integrator 1 (BIN1), transcript variant 1, mRNA.	60	BAR.|Interaction with BIN2.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CTTCTGCAGCCGGGTGCCCTC	0.637													12	41					0	0	1	0	0	T	127828379	C	T	127828379	3	4	2	1	0	0	0	0	1	0	0	0	1432	652	23	2	1719	2	BIN1	2	127828379	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	5688555	127828379	115370994	12	39											
LCT	3938	broad.mit.edu	37	chr2	136567270	136567270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctggagaacttttcccaaaCgactttagccttggagggca	10	10	11	10	1	0	1	0	0	0	1	1	4	1	2	2	3	3	2	2	3	3	5			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr2:136567270C>T	uc002tuu.1	-	7	2658	c.2647G>A	c.(2647-2649)Gtt>Att	p.V883I		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	883	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTTTCCCAAACGACTTTAGCC	0.502													46	131					0	0	1	0	0	T	136567270	C	T	136567270	3	4	2	1	0	0	0	0	1	0	0	0	8693	536	19	1	3176	1	LCT	2	136567270	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	8738891	136567270	106632103	13	40											
TTN	7273	broad.mit.edu	37	chr2	179465605	179465605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctggtctttgacagtcacagGgccaacagtggctgaaggct	9	9	13	10	0	2	2	1	2	1	0	2	2	2	2	1	4	1	2	1	4	2	1			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr2:179465605G>A	uc021vsy.1	-	236	48547	c.48322C>T	c.(48322-48324)Cct>Tct	p.P16108S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P9803S|TTN_uc021vta.1_Missense_Mutation_p.P9736S|TTN_uc021vtb.1_Missense_Mutation_p.P9611S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17035	Ig-like 99.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGTCACAGGGCCAACAGTG	0.448													36	124					0	0	1	0	0	A	179465605	G	A	179465605	3	1	2	1	0	0	0	0	1	0	0	0	16732	1232	43	3	51967	3	TTN	2	179465605	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	42898335	179465605	63733768	14	41											
SDPR	8436	broad.mit.edu	37	chr2	192711355	192711355	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggcctggtacttggagagCttggtgaggtcattctggat	7	12	16	6	0	2	2	1	1	1	1	2	5	2	3	1	6	2	2	1	6	1	4			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr2:192711355C>T	uc002utb.3	-	0	652	c.297G>A	c.(295-297)aaG>aaA	p.K99K		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	99						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	ACTTGGAGAGCTTGGTGAGGT	0.592													21	52					0	0	1	0	0	T	192711355	C	T	192711355	2	4	2	1	0	0	0	0	0	0	0	1	13970	796	28	3		3	SDPR	2	192711355	Silent	SNP	C	TCGA-CS-4941-01A-01D-1468-08	13245750	192711355	50488018	15	42											
ANKRD44	91526	broad.mit.edu	37	chr2	197943464	197943464	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgcccataggcggcagcaTaatgtatgctattgtaacct	10	12	10	9	1	0	0	0	0	0	0	0	0	0	0	2	2	4	5	2	2	5	6			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr2:197943464T>G	uc021vuj.1	-	15	1806	c.1613A>C	c.(1612-1614)tAt>tCt	p.Y538S	ANKRD44_uc002utz.4_Missense_Mutation_p.Y245S|ANKRD44_uc021vuk.1_Missense_Mutation_p.Y513S|ANKRD44_uc002uub.3_Missense_Mutation_p.Y538S|ANKRD44_uc010zgw.2_Missense_Mutation_p.Y466S	NM_001195144	NP_001182073	Q8N8A2	ANR44_HUMAN	Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA.	538							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GGCGGCAGCATAATGTATGCT	0.413													11	37					0	0	1	0	0	G	197943464	T	G	197943464	3	3	2	1	0	0	0	0	1	0	0	0	672	1406	49	5	1265	5	ANKRD44	2	197943464	Missense_Mutation	SNP	T	TCGA-CS-4941-01A-01D-1468-08	5232109	197943464	45255909	16	43											
PDGFRA	5156	broad.mit.edu	37	chr4	55161298	55161298	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctccctcctccagctcgcaGacctctgaagagagtgccat	8	9	8	16	1	2	3	0	1	2	2	6	4	4	3	5	0	2	2	5	0	1	0			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr4:55161298G>C	uc003han.4	+	22	3460	c.3129G>C	c.(3127-3129)caG>caC	p.Q1043H	PDGFRA_uc003haa.3_Missense_Mutation_p.Q803H	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	1043	Ser-rich.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.S1042L(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CCAGCTCGCAGACCTCTGAAG	0.507			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			5	129					0	0	1	0	0	C	55161298	G	C	55161298	3	2	2	1	0	0	0	0	1	0	0	0	11661	933	33	5	3215	5	PDGFRA	4	55161298	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08		55161298	135992978	17	44											
GK2	2712	broad.mit.edu	37	chr4	80328975	80328975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatttcctggaatttttttaCtaagatcctcaacagtagtc	11	17	5	8	0	1	1	1	0	0	1	4	2	3	2	2	1	2	1	2	1	6	8			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr4:80328975C>T	uc003hlu.3	-	0	398	c.380G>A	c.(379-381)aGt>aAt	p.S127N		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	127					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AATTTTTTTACTAAGATCCTC	0.428													58	158					0	0	1	0	0	T	80328975	C	T	80328975	3	4	2	1	0	0	0	0	1	0	0	0	6421	565	20	3	1285	3	GK2	4	80328975	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	25167677	80328975	110825301	18	45											
BASP1	10409	broad.mit.edu	37	chr5	17275508	17275508	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagaagcccgaccaggaCgccgagggcaaggccgagga	13	0	17	11	4	0	1	0	0	0	1	0	7	0	3	4	5	1	1	4	5	3	0			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr5:17275508C>T	uc003jfx.3	+	1	362	c.183C>T	c.(181-183)gaC>gaT	p.D61D	BASP1_uc021xws.1_Silent_p.D61D	NM_006317	NP_006308	P80723	BASP1_HUMAN	Homo sapiens brain abundant, membrane attached signal protein 1 (BASP1), mRNA.	61					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding			endometrium(1)|lung(8)	9						CCGACCAGGACGCCGAGGGCA	0.736													3	6					0	0	1	0	0	T	17275508	C	T	17275508	2	4	2	1	0	0	0	0	0	0	0	1	1317	535	19	1		1	BASP1	5	17275508	Silent	SNP	C	TCGA-CS-4941-01A-01D-1468-08		17275508	163639752	19	46											
CDH9	1007	broad.mit.edu	37	chr5	26881407	26881407	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccttcataggcatacgtTgccagcgaatcatatggagg	10	11	10	10	2	2	0	2	0	0	0	3	2	3	1	2	3	3	2	2	3	4	6			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr5:26881407T>G	uc003jgs.1	-	11	2377	c.2208A>C	c.(2206-2208)gcA>gcC	p.A736A	CDH9_uc011cnv.1_Silent_p.A329A	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	736					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AGGCATACGTTGCCAGCGAAT	0.418													63	126					0	0	1	0	0	G	26881407	T	G	26881407	2	3	2	1	0	0	0	0	0	0	0	1	3117	1799	63	5		5	CDH9	5	26881407	Silent	SNP	T	TCGA-CS-4941-01A-01D-1468-08	9605899	26881407	154033853	20	47											
EGFLAM	133584	broad.mit.edu	37	chr5	38427311	38427311	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacttggcagggggccacGtggagttccgctttgactgt	6	11	14	10	2	1	1	1	1	0	0	2	2	2	2	2	4	1	3	2	4	1	3	rs147520523	byFrequency	TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr5:38427311G>A	uc003jlc.2	+	13	2357	c.2011G>A	c.(2011-2013)Gtg>Atg	p.V671M	EGFLAM_uc003jlb.2_Missense_Mutation_p.V671M|EGFLAM_uc003jle.2_Missense_Mutation_p.V437M|EGFLAM_uc003jlf.2_Missense_Mutation_p.V37M	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	671	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse		p.H670H(2)		NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AGGGGGCCACGTGGAGTTCCG	0.522													6	222					0	0	1	0	0	A	38427311	G	A	38427311	3	1	2	1	0	0	0	0	1	0	0	0	4966	1145	40	1	2079	1	EGFLAM	5	38427311	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	11545904	38427311	142487949	21	48											
ZNF366	167465	broad.mit.edu	37	chr5	71756221	71756221	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtcgaggccgcactccAcacagatgttctcgcgccca	9	6	11	15	4	1	1	0	0	1	1	4	3	2	2	3	2	0	2	3	2	1	1			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr5:71756221A>G	uc003kce.1	-	1	1289	c.1103T>C	c.(1102-1104)gTg>gCg	p.V368A		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GCCGCACTCCACACAGATGTT	0.657													11	41					0	0	1	0	0	G	71756221	A	G	71756221	3	3	2	1	0	0	0	0	1	0	0	0	17867	159	6	3	1147	3	ZNF366	5	71756221	Missense_Mutation	SNP	A	TCGA-CS-4941-01A-01D-1468-08	33328910	71756221	109159039	22	49											
DMGDH	29958	broad.mit.edu	37	chr5	78347300	78347300	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaccatctccaggattataCaatccagctaaaacctaaat	16	10	4	11	0	1	1	0	1	1	0	3	2	2	2	4	1	3	1	4	1	7	4			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr5:78347300C>A	uc003kfs.3	-	4	561	c.555G>T	c.(553-555)ttG>ttT	p.L185F	DMGDH_uc011cte.1_Missense_Mutation_p.L35F|DMGDH_uc011ctf.1_Intron|DMGDH_uc011ctg.1_Intron	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	185					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CAGGATTATACAATCCAGCTA	0.363													3	88					0.115264	0.121175	1	1	0	A	78347300	C	A	78347300	3	1	2	1	0	0	0	0	1	0	0	0	4581	477	17	5	2093	5	DMGDH	5	78347300	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	6591079	78347300	102567960	23	50											
ARHGAP26	23092	broad.mit.edu	37	chr5	142526856	142526856	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtctcatcaaatccaaacaGcatccttaattccagcagca	14	10	4	13	0	2	0	2	0	1	0	6	0	5	0	3	0	4	3	3	0	3	2			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr5:142526856G>A	uc011dbj.2	+	19	1933	c.1898G>A	c.(1897-1899)aGc>aAc	p.S633N	ARHGAP26_uc003lmt.3_Missense_Mutation_p.S633N|ARHGAP26_uc003lmw.3_Missense_Mutation_p.S633N	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	633	Ser-rich.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATCCAAACAGCATCCTTAAT	0.473													45	109					0	0	1	0	0	A	142526856	G	A	142526856	3	1	2	1	0	0	0	0	1	0	0	0	875	971	34	3	1976	3	ARHGAP26	5	142526856	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	64179556	142526856	38388404	24	51											
CCHCR1	54535	broad.mit.edu	37	chr6	31125375	31125375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccagctgaatgtggccaCatgcagggctagaccctccc	8	6	11	16	0	0	2	0	1	0	1	1	2	1	2	5	2	2	3	5	2	2	1			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr6:31125375C>T	uc003nsp.4	-	0	192	c.3G>A	c.(1-3)atG>atA	p.M1I	CCHCR1_uc011dne.2_5'Flank|CCHCR1_uc003nsq.4_Missense_Mutation_p.M1I|CCHCR1_uc003nsr.4_Intron|CCHCR1_uc010jsk.1_Intron|TCF19_uc003nss.3_5'Flank|TCF19_uc003nst.3_5'Flank	NM_001105564	NP_061925	Q8TD31	CCHCR_HUMAN	Homo sapiens coiled-coil alpha-helical rod protein 1 (CCHCR1), transcript variant 1, mRNA.	0					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						AATGTGGCCACATGCAGGGCT	0.587													6	16					0	0	1	0	0	T	31125375	C	T	31125375	3	4	2	1	0	0	0	0	1	0	0	0	2877	478	17	3	2684	3	CCHCR1	6	31125375	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08		31125375	139989692	25	52											
DNAH11	8701	broad.mit.edu	37	chr7	21730409	21730409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcttggggaagctatcaCactgaagccatcagttggaa	12	11	10	8	0	3	1	2	1	1	0	3	3	3	3	1	3	2	2	1	3	4	4			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr7:21730409C>T	uc003svc.3	+	35	6003	c.5972C>T	c.(5971-5973)aCa>aTa	p.T1991I		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1991	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAAGCTATCACACTGAAGCCA	0.363									Kartagener syndrome				6	325					0	0	1	0	0	T	21730409	C	T	21730409	3	4	2	1	0	0	0	0	1	0	0	0	4599	478	17	3	6111	3	DNAH11	7	21730409	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08		21730409	137408254	26	53											
DNAH11	8701	broad.mit.edu	37	chr7	21742356	21742356	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgactggggacttcgtgctaTtaagtctgtcttggttgtgg	5	15	14	7	2	2	0	0	0	2	0	3	2	2	1	0	4	1	2	0	4	2	5			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr7:21742356T>C	uc003svc.3	+	37	6261	c.6230T>C	c.(6229-6231)aTt>aCt	p.I2077T		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2077	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I2077F(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTTCGTGCTATTAAGTCTGTC	0.388									Kartagener syndrome				10	39					0	0	1	0	0	C	21742356	T	C	21742356	3	2	2	1	0	0	0	0	1	0	0	0	4599	1493	52	3	6377	3	DNAH11	7	21742356	Missense_Mutation	SNP	T	TCGA-CS-4941-01A-01D-1468-08	11947	21742356	137396307	27	54											
CUX1	1523	broad.mit.edu	37	chr7	101924100	101924100	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccctccctgtgcaggagcGgcagaggaagtacctgagct	8	7	14	12	1	0	2	0	1	0	1	2	4	2	4	3	3	4	4	3	3	2	1			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr7:101924100G>T	uc003uyt.3	+	19	1896	c.1769G>T	c.(1768-1770)cGg>cTg	p.R590L	CUX1_uc003uyw.3_Missense_Mutation_p.R544L|CUX1_uc003uyv.3_Missense_Mutation_p.R574L|CUX1_uc003uyu.3_Missense_Mutation_p.R588L|CUX1_uc011kkn.2_Missense_Mutation_p.R551L	NM_001913	NP_001904	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 2, mRNA.	177					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GTGCAGGAGCGGCAGAGGAAG	0.652													3	81					1	1	1	1	0	T	101924100	G	T	101924100	3	4	2	1	0	0	0	0	1	0	0	0	4064	1116	39	5	5217	5	CUX1	7	101924100	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	80181744	101924100	57214563	28	55											
MGAM	8972	broad.mit.edu	37	chr7	141736692	141736692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcactaccttaacatcCgctatactctattgccctac	10	11	4	16	1	1	0	0	0	1	0	2	0	2	0	4	1	5	2	4	1	6	7			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr7:141736692C>T	uc003vwy.3	+	17	2200	c.2146C>T	c.(2146-2148)Cgc>Tgc	p.R716C		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	716	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCTTAACATCCGCTATACTCT	0.532													93	302					0	0	1	0	0	T	141736692	C	T	141736692	3	4	2	1	0	0	0	0	1	0	0	0	9541	652	23	2	2212	2	MGAM	7	141736692	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	39812592	141736692	17401971	29	56											
ADAM7	8756	broad.mit.edu	37	chr8	24350112	24350112	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcttccctgtgaggagaagTaagtgccctgtggaaaaaaa	13	10	11	7	0	1	2	0	1	1	1	2	4	2	3	2	2	1	1	2	2	5	3			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr8:24350112T>A	uc003xeb.3	+	15	1768	c.1655_splice	c.e15+2	p.K552_splice	ADAM7_uc003xec.3_Splice_Site_p.K324_splice	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	552	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TGAGGAGAAGTAAGTGCCCTG	0.373													22	56					0	0	1	0	0	A	24350112	T	A	24350112	5	1	2	1	0	0	0	0	0	0	1	0	251	1652	57	5	1715	5	ADAM7	8	24350112	Splice_Site	SNP	T	TCGA-CS-4941-01A-01D-1468-08		24350112	122013910	30	57											
ADAM7	8756	broad.mit.edu	37	chr8	24350563	24350563	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttccttcagagatgtcAgatgtggaaagatctactgc	10	12	10	9	0	3	3	2	0	1	3	4	5	4	4	2	1	2	0	2	1	2	3			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr8:24350563A>T	uc003xeb.3	+	15	1776	c.1663A>T	c.(1663-1665)Aga>Tga	p.R555*	ADAM7_uc003xec.3_Nonsense_Mutation_p.R327*	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	555	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CAGAGATGTCAGATGTGGAAA	0.448													12	62					0	0	1	0	0	T	24350563	A	T	24350563	4	4	2	1	0	0	0	0	0	1	0	0	251	180	7	5	1725	5	ADAM7	8	24350563	Nonsense_Mutation	SNP	A	TCGA-CS-4941-01A-01D-1468-08	451	24350563	122013459	31	58											
MTERFD1	51001	broad.mit.edu	37	chr8	97256197	97256197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgctcatcacattgtgcaCaaaatcaaacgtctcggtaa	15	10	6	10	2	4	0	3	0	1	0	5	0	4	0	0	1	3	3	0	1	5	2			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr8:97256197C>T	uc003yhs.1	-	6	1087	c.1009G>A	c.(1009-1011)Gtg>Atg	p.V337M	MTERFD1_uc003yhr.1_Missense_Mutation_p.V216M|MTERFD1_uc010mbd.1_Missense_Mutation_p.V337M	NM_015942	NP_057026	Q96E29	MTER1_HUMAN	Homo sapiens MTERF domain containing 1 (MTERFD1), nuclear gene encoding mitochondrial protein, mRNA.	337					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					ACATTGTGCACAAAATCAAAC	0.403													27	83					0	0	1	0	0	T	97256197	C	T	97256197	3	4	2	1	0	0	0	0	1	0	0	0	9919	478	17	3	252	3	MTERFD1	8	97256197	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	72905634	97256197	49107825	32	59											
EFR3A	23167	broad.mit.edu	37	chr8	132971845	132971845	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgcaggcatttagatcatCacaaactgtgggatcccaat	12	12	8	9	0	2	1	2	0	0	1	3	2	3	2	1	2	2	2	1	2	3	3			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr8:132971845C>G	uc003yte.3	+	7	994	c.790C>G	c.(790-792)Cac>Gac	p.H264D		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA.	264						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TTTAGATCATCACAAACTGTG	0.284													21	68					0	0	1	0	0	G	132971845	C	G	132971845	3	3	2	1	0	0	0	0	1	0	0	0	4958	826	29	5	820	5	EFR3A	8	132971845	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	35715648	132971845	13392177	33	60											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18777565	18777565	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatcttccgcagccaccTggagcaccaggacacgctcc	9	5	11	16	2	1	1	0	0	1	1	3	4	3	3	5	3	2	3	5	3	0	1			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr9:18777565T>A	uc003zne.4	+	18	3490	c.3338T>A	c.(3337-3339)cTg>cAg	p.L1113Q		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	1113						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CGCAGCCACCTGGAGCACCAG	0.647													5	13					0	0	1	0	0	A	18777565	T	A	18777565	3	1	2	1	0	0	0	0	1	0	0	0	274	1580	55	5	3416	5	ADAMTSL1	9	18777565	Missense_Mutation	SNP	T	TCGA-CS-4941-01A-01D-1468-08		18777565	122435866	34	61											
ALDH1B1	219	broad.mit.edu	37	chr9	38396064	38396064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggggccggctgctgaacCgcctggcagacctagtggag	7	5	17	12	3	0	2	0	1	0	1	0	3	0	3	4	5	3	3	4	5	2	1			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr9:38396064C>T	uc022bgy.1	+	0	319	c.319C>T	c.(319-321)Cgc>Tgc	p.R107C	ALDH1B1_uc004aay.3_Missense_Mutation_p.R107C	NM_000692	NP_000683	P30837	AL1B1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA.	107			L -> R (in allele ALDHA1B1*3; dbSNP:rs2073478).		carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	GCTGCTGAACCGCCTGGCAGA	0.632													39	108					0	0	1	0	0	T	38396064	C	T	38396064	3	4	2	1	0	0	0	0	1	0	0	0	493	652	23	2	321	2	ALDH1B1	9	38396064	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	19618499	38396064	102817367	35	62											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123152041	123152041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtttcctctggccttcCgaaggattttgtgggttacg	5	14	12	10	2	1	0	0	0	1	0	3	2	3	1	4	4	1	2	4	4	2	5			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr9:123152041C>T	uc004bkf.3	-	36	5784	c.5603G>A	c.(5602-5604)cGg>cAg	p.R1868Q	CDK5RAP2_uc010mvi.3_Missense_Mutation_p.R877Q|CDK5RAP2_uc004bke.3_Missense_Mutation_p.R1153Q|CDK5RAP2_uc004bkg.3_Missense_Mutation_p.R1789Q|CDK5RAP2_uc011lxw.2_Missense_Mutation_p.R1133Q|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_Missense_Mutation_p.R1133Q|CDK5RAP2_uc011lya.2_Missense_Mutation_p.R1133Q	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	1868	Interaction with PCNT and AKAP9.|Required for centrosomal attachment, Golgi localization and CALM1 interaction.				G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TCTGGCCTTCCGAAGGATTTT	0.517													6	61					0	0	1	0	0	T	123152041	C	T	123152041	3	4	2	1	0	0	0	0	1	0	0	0	3146	652	23	2	86	2	CDK5RAP2	9	123152041	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	84755977	123152041	18061390	36	63											
PNPLA7	375775	broad.mit.edu	37	chr9	140409907	140409907	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgtttgcgaatggaaggCgcggggacggagtggctcct	7	9	17	8	4	1	0	0	0	1	0	2	4	2	3	1	6	1	2	1	6	2	1			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr9:140409907C>T	uc010ncj.1	-	11	1486	c.1149G>A	c.(1147-1149)gcG>gcA	p.A383A	PNPLA7_uc011mfa.1_Silent_p.A90A|PNPLA7_uc004cnf.2_Silent_p.A358A	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	358					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GAATGGAAGGCGCGGGGACGG	0.657													3	9					0	0	1	0	0	T	140409907	C	T	140409907	2	4	2	1	0	0	0	0	0	0	0	1	12170	755	27	1		1	PNPLA7	9	140409907	Silent	SNP	C	TCGA-CS-4941-01A-01D-1468-08	17257866	140409907	803524	37	64											
DNHD1	144132	broad.mit.edu	37	chr11	6588129	6588129	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatgagtgtatgcaggagcGgctgctgacgatgctgctgt	9	10	15	7	2	0	2	0	2	0	0	0	4	0	3	0	2	5	6	0	2	2	1			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr11:6588129G>A	uc001mdw.4	+	35	11954	c.11390G>A	c.(11389-11391)cGg>cAg	p.R3797Q	DNHD1_uc001mea.4_Missense_Mutation_p.R66Q|DNHD1_uc001meb.3_Missense_Mutation_p.R65Q|DNHD1_uc001mec.3_Missense_Mutation_p.R65Q|DNHD1_uc010rao.2_Intron|DNHD1_uc009yfg.3_5'Flank	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	3797					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ATGCAGGAGCGGCTGCTGACG	0.542													7	6					0	0	1	0	0	A	6588129	G	A	6588129	3	1	2	1	0	0	0	0	1	0	0	0	4668	1116	39	2	11533	2	DNHD1	11	6588129	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08		6588129	128418387	38	65											
DNHD1	144132	broad.mit.edu	37	chr11	6588423	6588423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggacagcatgaagccacGtgagattaatcacggggagg	12	7	14	8	2	2	2	1	2	1	1	2	5	2	4	1	4	2	1	1	4	2	1			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr11:6588423G>A	uc001mdw.4	+	35	12248	c.11684G>A	c.(11683-11685)cGt>cAt	p.R3895H	DNHD1_uc001mea.4_Missense_Mutation_p.R164H|DNHD1_uc001meb.3_Missense_Mutation_p.R163H|DNHD1_uc001mec.3_Missense_Mutation_p.R163H|DNHD1_uc010rao.2_Missense_Mutation_p.R153H|DNHD1_uc009yfg.3_5'Flank	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	3895					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ATGAAGCCACGTGAGATTAAT	0.577													46	116					0	0	1	0	0	A	6588423	G	A	6588423	3	1	2	1	0	0	0	0	1	0	0	0	4668	1145	40	1	11827	1	DNHD1	11	6588423	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	294	6588423	128418093	39	66											
OR10A5	144124	broad.mit.edu	37	chr11	6867517	6867517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgagatctacgccatcGtcggaaccattctggtggtc	7	13	11	10	3	2	1	0	1	2	1	5	3	2	2	2	3	2	1	2	3	2	3			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr11:6867517G>A	uc001met.1	+	0	604	c.604G>A	c.(604-606)Gtc>Atc	p.V202I		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA.	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V202L(2)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTACGCCATCGTCGGAACCAT	0.512													53	135					0	0	1	0	0	A	6867517	G	A	6867517	3	1	2	1	0	0	0	0	1	0	0	0	10893	1145	40	1	606	1	OR10A5	11	6867517	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	279094	6867517	128138999	40	67											
CD82	3732	broad.mit.edu	37	chr11	44640201	44640201	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccttgcagggctgcatggaGaaggtgcaggcgtggctgca	7	7	17	10	1	0	1	0	0	0	1	0	2	0	1	1	5	4	6	1	5	1	1			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr11:44640201G>A	uc001myc.3	+	8	902	c.654G>A	c.(652-654)gaG>gaA	p.E218E	CD82_uc001myd.3_Silent_p.E193E	NM_002231	NP_002222	P27701	CD82_HUMAN	Homo sapiens CD82 molecule (CD82), transcript variant 1, mRNA.	218						integral to plasma membrane	protein binding			large_intestine(1)|ovary(1)	2						GCTGCATGGAGAAGGTGCAGG	0.667													20	70					0	0	1	0	0	A	44640201	G	A	44640201	2	1	2	1	0	0	0	0	0	0	0	1	3040	933	33	3		3	CD82	11	44640201	Silent	SNP	G	TCGA-CS-4941-01A-01D-1468-08	37772684	44640201	90366315	41	68											
EFEMP2	30008	broad.mit.edu	37	chr11	65638766	65638766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggggcaggcacaagtagcCcccgtagtggttgatgcact	8	7	15	11	2	0	1	0	1	0	0	0	1	0	1	2	4	2	6	2	4	3	3			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr11:65638766C>T	uc001ofy.4	-	3	488	c.229G>A	c.(229-231)Ggc>Agc	p.G77S	EFEMP2_uc001ofz.3_Non-coding_Transcript	NM_016938	NP_058634	O95967	FBLN4_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 2 (EFEMP2), transcript variant 1, mRNA.	77	EGF-like 1; atypical.				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		CACAAGTAGCCCCCGTAGTGG	0.647													36	138					0	0	1	0	0	T	65638766	C	T	65638766	3	4	2	1	0	0	0	0	1	0	0	0	4942	623	22	3	1134	3	EFEMP2	11	65638766	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	20998565	65638766	69367750	42	69											
CCDC84	338657	broad.mit.edu	37	chr11	118885707	118885707	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttaatttttttttcaggtgCcacacctccctggatgatcc	7	16	6	12	0	1	1	1	1	0	0	3	2	3	2	4	2	1	0	4	2	1	5			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr11:118885707C>G	uc001pul.3	+	8	775	c.719C>G	c.(718-720)gCc>gGc	p.A240G	CCDC84_uc010ryk.2_Non-coding_Transcript|CCDC84_uc010ryl.2_Non-coding_Transcript|CCDC84_uc010rym.2_Non-coding_Transcript	NM_198489	NP_940891	Q86UT8	CCD84_HUMAN	Homo sapiens coiled-coil domain containing 84 (CCDC84), mRNA.	240										breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		TTTTCAGGTGCCACACCTCCC	0.353													31	71					0	0	1	0	0	G	118885707	C	G	118885707	3	3	2	1	0	0	0	0	1	0	0	0	2858	739	26	5	753	5	CCDC84	11	118885707	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	53246941	118885707	16120809	43	70											
ACAD8	27034	broad.mit.edu	37	chr11	134130962	134130962	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggaactcccagccaacaCgagctgtgatcttcgaagac	11	7	11	12	2	1	2	0	1	1	1	3	5	2	3	2	2	4	1	2	2	3	1			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr11:134130962C>G	uc001qhk.3	+	6	791	c.730C>G	c.(730-732)Cga>Gga	p.R244G	ACAD8_uc010sco.1_3'UTR|ACAD8_uc010scp.1_Non-coding_Transcript|ACAD8_uc010scq.2_Missense_Mutation_p.R167G|ACAD8_uc001qhl.3_Missense_Mutation_p.R117G|ACAD8_uc010scr.1_3'UTR|ACAD8_uc009zde.1_3'UTR	NM_014384	NP_055199	Q9UKU7	ACAD8_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 8 (ACAD8), nuclear gene encoding mitochondrial protein, mRNA.	244					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	p.R244*(2)		endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		CCAGCCAACACGAGCTGTGAT	0.612													3	23					0	0	1	0	0	G	134130962	C	G	134130962	3	3	2	1	0	0	0	0	1	0	0	0	110	528	19	5	756	5	ACAD8	11	134130962	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	15245255	134130962	875554	44	71											
FNDC3A	22862	broad.mit.edu	37	chr13	49772709	49772709	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggaggataagaatggaCggtaggtttttttaattgct	12	14	13	2	1	0	2	0	0	0	2	0	5	0	5	0	5	1	3	0	5	4	7			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr13:49772709C>A	uc001vcm.3	+	23	3292	c.2987_splice	c.e23+1	p.R996_splice	FNDC3A_uc001vcn.3_Splice_Site_p.R996_splice|FNDC3A_uc001vco.3_Splice_Site|FNDC3A_uc001vcq.3_Splice_Site_p.R940_splice	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA.	996	Fibronectin type-III 8.					Golgi membrane|integral to membrane		p.R996W(1)		endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TAAGAATGGACGGTAGGTTTT	0.398													3	93					0.115264	0.121175	1	1	0	A	49772709	C	A	49772709	5	1	2	1	0	0	0	0	0	0	1	0	5969	550	19	5	3083	5	FNDC3A	13	49772709	Splice_Site	SNP	C	TCGA-CS-4941-01A-01D-1468-08		49772709	65397169	45	72											
TPP2	7174	broad.mit.edu	37	chr13	103299660	103299660	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatttttgaccagaacaaaaGacagatgggttcaggcgatg	14	10	11	6	1	1	4	1	1	0	3	1	5	1	4	1	2	1	1	1	2	4	4	rs142623109		TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr13:103299660G>C	uc001vpi.4	+	20	2697	c.2594G>C	c.(2593-2595)aGa>aCa	p.R865T		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	865					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAGAACAAAAGACAGATGGGT	0.388													23	43					0	0	1	0	0	C	103299660	G	C	103299660	3	2	2	1	0	0	0	0	1	0	0	0	16409	942	33	5	2676	5	TPP2	13	103299660	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	53526951	103299660	11870218	46	73											
PLA2G4F	255189	broad.mit.edu	37	chr15	42434838	42434838	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcacgggcctcctccatGtcctcagggcccacctcgat	6	8	8	19	2	2	0	2	0	0	0	6	1	5	0	6	2	0	0	6	2	0	0			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr15:42434838G>A	uc001zoz.3	-	18	2309	c.2217C>T	c.(2215-2217)gaC>gaT	p.D739D	PLA2G4F_uc010bcq.3_Silent_p.D36D|PLA2G4F_uc001zoy.3_Silent_p.D371D|PLA2G4F_uc001zpa.3_Silent_p.D490D|PLA2G4F_uc010bcr.3_Silent_p.D490D|PLA2G4F_uc010bcs.3_Silent_p.D526D	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	739	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CCTCCTCCATGTCCTCAGGGC	0.592													26	69					0	0	1	0	0	A	42434838	G	A	42434838	2	1	2	1	0	0	0	0	0	0	0	1	12006	1368	48	3		3	PLA2G4F	15	42434838	Silent	SNP	G	TCGA-CS-4941-01A-01D-1468-08		42434838	60096554	47	74											
PKD1	5310	broad.mit.edu	37	chr16	2164291	2164291	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcgctgttttccaccacCacgtccaccacgtgctcccc	5	9	7	20	3	0	0	0	0	0	0	3	0	3	0	7	1	1	3	7	1	0	2	rs4018173		TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr16:2164291C>A	uc002cos.1	-	10	2942	c.2733G>T	c.(2731-2733)gtG>gtT	p.V911V	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.V911V	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	911	PKD 3.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTTCCACCACCACGTCCACCA	0.697													4	36					0.00198382	0.00214044	1	1	0	A	2164291	C	A	2164291	2	1	2	1	0	0	0	0	0	0	0	1	11963	581	21	5		5	PKD1	16	2164291	Silent	SNP	C	TCGA-CS-4941-01A-01D-1468-08		2164291	88190462	48	75											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53679916	53679916	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgggtgcttgctgacttaaCtggaaaaacatacatattta	13	14	8	6	0	0	1	0	1	0	0	0	2	0	2	0	2	5	2	0	2	6	7			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr16:53679916C>T	uc002ehp.3	-	17	2369	c.2305_splice	c.e17-1	p.L769_splice	RPGRIP1L_uc002eho.4_Splice_Site_p.L769_splice|RPGRIP1L_uc010vgy.2_Splice_Site_p.L769_splice|RPGRIP1L_uc010cbx.3_Splice_Site_p.L769_splice|RPGRIP1L_uc010vgz.1_Splice_Site_p.L769_splice	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	769					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GCTGACTTAACTGGAAAAACA	0.358													21	47					0	0	1	0	0	T	53679916	C	T	53679916	5	4	2	1	0	0	0	0	0	0	1	0	13550	579	20	3	1687	3	RPGRIP1L	16	53679916	Splice_Site	SNP	C	TCGA-CS-4941-01A-01D-1468-08	51515625	53679916	36674837	49	76											
POLR2A	5430	broad.mit.edu	37	chr17	7414879	7414879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggaccccgtacgcaccaCgtccaatgacattgtggaga	10	7	11	13	4	0	2	0	1	0	1	1	4	1	3	4	2	1	2	4	2	2	2			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr17:7414879C>T	uc002ghf.4	+	23	4459	c.4073C>T	c.(4072-4074)aCg>aTg	p.T1358M		NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	1358					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GTACGCACCACGTCCAATGAC	0.597													8	29					0	0	1	0	0	T	7414879	C	T	7414879	3	4	2	1	0	0	0	0	1	0	0	0	12214	536	19	1	4167	1	POLR2A	17	7414879	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08		7414879	73780331	50	77											
PGAP3	93210	broad.mit.edu	37	chr17	37844245	37844245	+	Frame_Shift_Del	DEL	A	A	-																															ctgccccagctagcaggaccAaccgcgccgccaggccggcc																										TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr17:37844245delA	uc002hsj.3	-	0	66	c.23delT	c.(22-24)ttgfs	p.L8fs	ERBB2_uc010cwa.3_5'Flank|ERBB2_uc002hsm.3_5'Flank|PGAP3_uc010wej.2_Frame_Shift_Del_p.L8fs|PGAP3_uc002hsk.3_Frame_Shift_Del_p.L8fs|PGAP3_uc010cvz.3_Frame_Shift_Del_p.L8fs|ERBB2_uc002hsl.3_5'Flank	NM_033419	NP_219487	Q96FM1	PGAP3_HUMAN	Homo sapiens post-GPI attachment to proteins 3 (PGAP3), mRNA.	8					GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						TAGCAGGACCAACCGCGCCGC	0.672													2	4	---	---	---	---						-	37844245	A	-	37844245	7	5	2	1	0	1	0	1	0	0	0	0	11779	131	5	0	971	0	PGAP3	17	37844245	Frame_Shift_Del	DEL	A	TCGA-CS-4941-01A-01D-1468-08	30429366	37844245	43350965	51	78											
KRT222	125113	broad.mit.edu	37	chr17	38812821	38812821	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacagactttttcctcaatcGagggttatctttaaagaaag	14	13	7	7	1	2	2	1	0	1	2	4	3	3	2	1	1	1	1	1	1	6	5			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr17:38812821G>A	uc002hvc.2	-	5	786	c.721C>T	c.(721-723)Cga>Tga	p.R241*	KRT222_uc002hvb.2_Nonsense_Mutation_p.R201*	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN	Homo sapiens keratin 222 (KRT222), mRNA.	241						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						TTCCTCAATCGAGGGTTATCT	0.338													34	85					0	0	1	0	0	A	38812821	G	A	38812821	4	1	2	1	0	0	0	0	0	1	0	0	8459	1066	37	2	170	2	KRT222	17	38812821	Nonsense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	968576	38812821	42382389	52	79											
SERPINB7	8710	broad.mit.edu	37	chr18	61449736	61449736	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgccctggccctggtccgcTtgggcgctcaagatgactcc	4	9	12	16	2	1	2	1	1	0	1	3	2	3	2	4	3	1	2	4	3	1	1			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr18:61449736T>A	uc002ljl.3	+	1	226	c.130T>A	c.(130-132)Ttg>Atg	p.L44M	SERPINB7_uc002ljm.3_Missense_Mutation_p.L44M|SERPINB7_uc010xet.2_Missense_Mutation_p.L44M|SERPINB7_uc010dqg.3_Missense_Mutation_p.L44M	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	44					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CCTGGTCCGCTTGGGCGCTCA	0.473													38	94					0	0	1	0	0	A	61449736	T	A	61449736	3	1	2	1	0	0	0	0	1	0	0	0	14106	1606	56	5	132	5	SERPINB7	18	61449736	Missense_Mutation	SNP	T	TCGA-CS-4941-01A-01D-1468-08		61449736	16627512	53	80											
ZNF675	171392	broad.mit.edu	37	chr19	23836144	23836144	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttatagggtttctctccagTatgaattatcttatgttcag	9	19	7	6	0	3	1	1	1	2	0	5	1	4	1	1	1	0	3	1	1	6	8			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr19:23836144T>A	uc002nri.3	-	3	1773	c.1591A>T	c.(1591-1593)Act>Tct	p.T531S		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	Homo sapiens zinc finger protein 675 (ZNF675), mRNA.	531					I-kappaB kinase/NF-kappaB cascade|bone resorption|cytokine-mediated signaling pathway|hemopoiesis|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.T531T(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTCTCTCCAGTATGAATTATC	0.343													21	71					0	0	1	0	0	A	23836144	T	A	23836144	3	1	2	1	0	0	0	0	1	0	0	0	18079	1638	57	5	119	5	ZNF675	19	23836144	Missense_Mutation	SNP	T	TCGA-CS-4941-01A-01D-1468-08		23836144	35292839	54	81											
ZNF536	9745	broad.mit.edu	37	chr19	31038959	31038959	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggcagaacggggctgggccGctgtctgggcaacccccaaa	8	4	15	14	3	1	1	0	0	1	1	1	1	1	1	3	5	2	4	3	5	3	0			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr19:31038959G>A	uc002nsu.1	+	3	2571	c.2433G>A	c.(2431-2433)ccG>ccA	p.P811P	ZNF536_uc010edd.1_Silent_p.P811P	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	811					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGGCTGGGCCGCTGTCTGGGC	0.567													32	90					0	0	1	0	0	A	31038959	G	A	31038959	2	1	2	1	0	0	0	0	0	0	0	1	17971	1074	38	1		1	ZNF536	19	31038959	Silent	SNP	G	TCGA-CS-4941-01A-01D-1468-08	7202815	31038959	28090024	55	82											
KIAA0355	9710	broad.mit.edu	37	chr19	34832986	34832986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acctctgacaccccagccggGactggcacctcagcagcagt	9	5	10	17	1	2	1	1	1	1	0	2	2	2	2	5	2	3	3	5	2	0	0			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr19:34832986G>A	uc002nvd.4	+	9	3006	c.2147G>A	c.(2146-2148)gGa>gAa	p.G716E		NM_014686	NP_055501	O15063	K0355_HUMAN	Homo sapiens KIAA0355 (KIAA0355), mRNA.	716										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CCCCAGCCGGGACTGGCACCT	0.647													54	142					0	0	1	0	0	A	34832986	G	A	34832986	3	1	2	1	0	0	0	0	1	0	0	0	8170	1174	41	3	2181	3	KIAA0355	19	34832986	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	3794027	34832986	24295997	56	83											
TNNT1	7138	broad.mit.edu	37	chr19	55649402	55649402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggcatcatcctctgccCgcttcttggcctcttcctct	2	16	6	17	1	6	0	1	0	5	0	8	0	8	0	4	2	1	2	4	2	0	4			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr19:55649402C>T	uc002qjb.4	-	9	517	c.428G>A	c.(427-429)cGg>cAg	p.R143Q	TNNT1_uc002qjc.4_Missense_Mutation_p.R143Q|TNNT1_uc002qje.4_Missense_Mutation_p.R132Q|TNNT1_uc002qjd.4_Missense_Mutation_p.R132Q|TNNT1_uc002qjf.2_Missense_Mutation_p.R139Q	NM_003283	NP_003274	P13805	TNNT1_HUMAN	Homo sapiens troponin T type 1 (skeletal, slow) (TNNT1), transcript variant 1, mRNA.	143					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		ATCCTCTGCCCGCTTCTTGGC	0.572													32	97					0	0	1	0	0	T	55649402	C	T	55649402	3	4	2	1	0	0	0	0	1	0	0	0	16327	652	23	2	428	2	TNNT1	19	55649402	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	20816416	55649402	3479581	57	84											
PLCG1	5335	broad.mit.edu	37	chr20	39802384	39802384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctgcgcttcgtggtgtatGaggaagacatgtttagtgac	8	14	13	6	2	1	3	0	2	1	1	2	4	1	4	0	2	1	3	0	2	3	5			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr20:39802384G>A	uc002xjp.1	+	28	3608	c.3487G>A	c.(3487-3489)Gag>Aag	p.E1163K	PLCG1_uc002xjo.1_Missense_Mutation_p.E1163K|PLCG1_uc010zwe.1_Missense_Mutation_p.E828K	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	1163	C2.				T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CGTGGTGTATGAGGAAGACAT	0.517											OREG0025953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	54	121					0	0	1	0	0	A	39802384	G	A	39802384	3	1	2	1	0	0	0	0	1	0	0	0	12035	1291	45	3	3601	3	PLCG1	20	39802384	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08		39802384	23223136	58	85											
KRTAP21-2	337978	broad.mit.edu	37	chr21	32119504	32119504	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcccccacagcagtttctgTagtagttgcaacacatgatt	11	11	8	11	0	1	1	0	1	1	0	1	1	1	1	2	0	4	6	2	0	3	5	rs145167151		TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr21:32119504T>C	uc011adh.2	-	0	17	c.17A>G	c.(16-18)tAc>tGc	p.Y6C		NM_181617	NP_853648	Q3LI59	KR212_HUMAN	Homo sapiens keratin associated protein 21-2 (KRTAP21-2), mRNA.	6						intermediate filament				lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						GCAGTTTCTGTAGTAGTTGCA	0.468													50	106					0	0	1	0	0	C	32119504	T	C	32119504	3	2	2	1	0	0	0	0	1	0	0	0	8539	1638	57	3	236	3	KRTAP21-2	21	32119504	Missense_Mutation	SNP	T	TCGA-CS-4941-01A-01D-1468-08		32119504	16010391	59	86											
ABCG1	9619	broad.mit.edu	37	chr21	43708163	43708163	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaggtaaagcagacaaaaCgattaaaggggttgagaaag	20	5	13	3	1	0	3	0	1	0	3	0	5	0	3	0	3	2	3	0	3	8	3			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr21:43708163C>T	uc011aev.2	+	8	1245	c.1171C>T	c.(1171-1173)Cga>Tga	p.R391*	ABCG1_uc002zam.3_Intron|ABCG1_uc002zan.3_Intron|ABCG1_uc002zao.3_Intron|ABCG1_uc002zap.3_Intron|ABCG1_uc002zaq.3_Nonsense_Mutation_p.R380*|ABCG1_uc002zar.3_Intron|ABCG1_uc010gpb.2_5'UTR	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	380					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GCAGACAAAACGATTAAAGGG	0.562													22	181					0	0	1	0	0	T	43708163	C	T	43708163	4	4	2	1	0	0	0	0	0	1	0	0	68	528	19	1	1340	1	ABCG1	21	43708163	Nonsense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	11588659	43708163	4421732	60	87											
DDX3X	1654	broad.mit.edu	37	chrX	41204458	41204458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtgttagatgaagctgatCggatgttggatatggggttt	8	15	16	2	1	0	3	0	2	0	1	1	5	0	5	0	5	1	4	0	5	3	4			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chrX:41204458C>T	uc004dfe.3	+	10	1906	c.1051C>T	c.(1051-1053)Cgg>Tgg	p.R351W	DDX3X_uc011mks.2_Intron|DDX3X_uc004dff.3_Missense_Mutation_p.R351W|DDX3X_uc011mkq.2_Missense_Mutation_p.R335W|DDX3X_uc011mkr.2_Missense_Mutation_p.R351W|DDX3X_uc004dfg.3_Non-coding_Transcript|DDX3X_uc011mkt.1_Non-coding_Transcript	NM_001356	NP_001347	O00571	DDX3X_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA.	351	Helicase ATP-binding.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|protein binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TGAAGCTGATCGGATGTTGGA	0.408										HNSCC(61;0.18)			60	49					0	0	1	0	0	T	41204458	C	T	41204458	3	4	2	1	0	0	0	0	1	0	0	0	4358	875	31	2	1093	2	DDX3X	23	41204458	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08		41204458	114066102	61	88											
RGAG1	57529	broad.mit.edu	37	chrX	109695334	109695334	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccacagcctctggaaagAtgtccacgccactgaggaga	12	5	12	12	1	1	3	0	1	1	2	2	6	2	4	4	2	2	0	4	2	1	0			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chrX:109695334A>T	uc004eor.2	+	2	1735	c.1489A>T	c.(1489-1491)Atg>Ttg	p.M497L	RGAG1_uc011msr.1_Missense_Mutation_p.M497L	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	497								p.K496N(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CTCTGGAAAGATGTCCACGCC	0.507													66	62					0	0	1	0	0	T	109695334	A	T	109695334	3	4	2	1	0	0	0	0	1	0	0	0	13274	333	12	5	1491	5	RGAG1	23	109695334	Missense_Mutation	SNP	A	TCGA-CS-4941-01A-01D-1468-08	68490876	109695334	45575226	62	89											
AGTR2	186	broad.mit.edu	37	chrX	115303726	115303726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttctggtcaatattgtcGtggttacactgttttgttgt	6	20	10	5	1	2	0	1	0	1	0	3	1	2	0	0	2	1	3	0	2	3	7			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chrX:115303726G>A	uc022cdd.1	+	0	193	c.193G>A	c.(193-195)Gtg>Atg	p.V65M	AGTR2_uc004eqh.4_Missense_Mutation_p.V65M	NM_000686	NP_000677	P50052	AGTR2_HUMAN	Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.	65					G-protein signaling, coupled to cGMP nucleotide second messenger|behavior|blood vessel remodeling|brain development|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						CAATATTGTCGTGGTTACACT	0.363													5	141					0	0	1	0	0	A	115303726	G	A	115303726	3	1	2	1	0	0	0	0	1	0	0	0	402	1145	40	1	195	1	AGTR2	23	115303726	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	5608392	115303726	39966834	63	90											
SMARCA1	6594	broad.mit.edu	37	chrX	128632026	128632026	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagtttaaaacatcaatatCtttcatcaggatttttgtat	14	17	5	5	0	4	1	3	0	1	1	4	2	4	2	0	1	1	2	0	1	5	7	rs35325660		TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chrX:128632026C>G	uc011muk.1	-	10	1413	c.1300G>C	c.(1300-1302)Gat>Cat	p.D434H	SMARCA1_uc004eun.4_Missense_Mutation_p.D434H|SMARCA1_uc004eup.4_Missense_Mutation_p.D434H|SMARCA1_uc011mul.1_Missense_Mutation_p.D434H	NM_003069	NP_003060	P28370	SMCA1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA.	434					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						ACATCAATATCTTTCATCAGG	0.308													18	18					0	0	1	0	0	G	128632026	C	G	128632026	3	3	2	1	0	0	0	0	1	0	0	0	14768	913	32	5	1920	5	SMARCA1	23	128632026	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	13328300	128632026	26638534	64	91											
ASPM	259266	broad.mit.edu	37	chr1	197072215	197072215	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctttttggttttgtaagCtctgtatttagactgtatag	7	22	8	4	0	2	1	0	0	2	1	2	1	2	1	0	1	1	5	0	1	5	11			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:197072215C>G	uc001gtu.3	-	17	6423	c.6166G>C	c.(6166-6168)Gct>Cct	p.A2056P	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	2056	IQ 15.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GTTTTGTAAGCTCTGTATTTA	0.343													95	193					0	0	1	0	0	G	197072215	C	G	197072215	3	3	3	1	0	0	0	0	1	0	0	0	1056	797	28	5	4311	5	ASPM	1	197072215	Missense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08		197072215	52178406	1	92											
CEP170	9859	broad.mit.edu	37	chr1	243328278	243328278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaacccacatctgtggaaCgactttttgttttcttttcc	7	18	6	10	1	2	1	0	1	2	0	3	3	3	2	2	1	2	1	2	1	2	7			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:243328278C>T	uc021plo.1	-	12	3392	c.2984G>A	c.(2983-2985)cGt>cAt	p.R995H	CEP170_uc021plp.1_Missense_Mutation_p.R897H|CEP170_uc021plq.1_Missense_Mutation_p.R897H|CEP170_uc001hzv.1_Missense_Mutation_p.R373H	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	Homo sapiens centrosomal protein 170kDa (CEP170), transcript variant alpha, mRNA.	995	Targeting to microtubules.					centriole|microtubule|spindle		p.R995C(1)		NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			ATCTGTGGAACGACTTTTTGT	0.408													14	105					0	0	1	0	0	T	243328278	C	T	243328278	3	4	3	1	0	0	0	0	1	0	0	0	3250	536	19	1	1832	1	CEP170	1	243328278	Missense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08	46256063	243328278	5922343	2	93											
OR6F1	343169	broad.mit.edu	37	chr1	247875530	247875530	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcaatgtcacagaagaaGtggttgatggcacgggggcc	10	7	17	7	1	1	3	1	1	0	2	1	3	1	3	1	5	1	3	1	5	3	1	rs144069302		TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:247875530G>T	uc001idj.1	-	0	528	c.528C>A	c.(526-528)caC>caA	p.H176Q		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CACAGAAGAAGTGGTTGATGG	0.577													6	166					0.00198382	0.00202603	1	1	0	T	247875530	G	T	247875530	3	4	3	1	0	0	0	0	1	0	0	0	11201	1020	36	5	402	5	OR6F1	1	247875530	Missense_Mutation	SNP	G	TCGA-CS-4942-01A-01D-1468-08	4547252	247875530	1375091	3	94											
KRTCAP3	200634	broad.mit.edu	37	chr2	27665528	27665528	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaacctgctgctgggggcCgtgctgcatggcaccgtcct	4	9	15	13	2	0	1	0	1	0	0	1	1	1	1	4	3	5	5	4	3	1	0			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr2:27665528C>T	uc002rks.3	+	1	158	c.111C>T	c.(109-111)gcC>gcT	p.A37A	KRTCAP3_uc010ylr.2_Silent_p.A37A|KRTCAP3_uc021vfd.1_Silent_p.A37A|KRTCAP3_uc002rkt.3_Silent_p.A19A	NM_173853	NP_776252	Q53RY4	KCP3_HUMAN	Homo sapiens keratinocyte associated protein 3 (KRTCAP3), transcript variant 2, mRNA.	37						integral to membrane				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					TGCTGGGGGCCGTGCTGCATG	0.706													12	21					0	0	1	0	0	T	27665528	C	T	27665528	2	4	3	1	0	0	0	0	0	0	0	1	8579	639	23	2		2	KRTCAP3	2	27665528	Silent	SNP	C	TCGA-CS-4942-01A-01D-1468-08		27665528	215533845	4	95											
POLR1A	25885	broad.mit.edu	37	chr2	86316951	86316951	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgttaactcacatgtgcGccctgggaccccaggaggtt	8	9	12	12	1	1	0	1	0	0	0	1	2	1	2	3	3	2	2	3	3	1	2			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr2:86316951G>A	uc002sqs.3	-	3	913	c.534C>T	c.(532-534)ggC>ggT	p.G178G		NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	178					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TCACATGTGCGCCCTGGGACC	0.458													40	86					0	0	1	0	0	A	86316951	G	A	86316951	2	1	3	1	0	0	0	0	0	0	0	1	12209	1074	38	1		1	POLR1A	2	86316951	Silent	SNP	G	TCGA-CS-4942-01A-01D-1468-08	58651423	86316951	156882422	5	96											
SLC9A4	389015	broad.mit.edu	37	chr2	103149082	103149082	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggttcggtcgaggtggAcagctgaccatggacacggc	8	8	16	9	3	0	2	0	2	0	0	2	5	0	4	1	6	1	2	1	6	0	2			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr2:103149082A>G	uc002tbz.4	+	11	2789	c.2332A>G	c.(2332-2334)Aca>Gca	p.T778A		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	778					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GTCGAGGTGGACAGCTGACCA	0.502													13	23					0	0	1	0	0	G	103149082	A	G	103149082	3	3	3	1	0	0	0	0	1	0	0	0	14716	275	10	3	2378	3	SLC9A4	2	103149082	Missense_Mutation	SNP	A	TCGA-CS-4942-01A-01D-1468-08	16832131	103149082	140050291	6	97											
RGPD4	285190	broad.mit.edu	37	chr2	108496508	108496508	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaaagtgcagatcacttaaAcggcctgcttcgggaagcag	14	7	11	9	2	1	1	1	0	0	1	2	2	1	2	1	2	4	3	1	2	5	2			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr2:108496508A>T	uc010ywk.2	+	20	5091	c.5009A>T	c.(5008-5010)aAc>aTc	p.N1670I	RGPD4_uc002tdu.3_Missense_Mutation_p.N857I|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1670					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GATCACTTAAACGGCCTGCTT	0.453													16	275					0	0	1	0	0	T	108496508	A	T	108496508	3	4	3	1	0	0	0	0	1	0	0	0	13288	43	2	5	5091	5	RGPD4	2	108496508	Missense_Mutation	SNP	A	TCGA-CS-4942-01A-01D-1468-08	5347426	108496508	134702865	7	98											
ACTR3	10096	broad.mit.edu	37	chr2	114699855	114699855	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attaaacagtatactggaatCaatgctatctcaaagaaaga	19	10	6	6	0	2	2	2	0	1	2	3	3	2	3	0	1	3	2	0	1	9	4			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr2:114699855C>T	uc002tkx.1	+	7	1097	c.777C>T	c.(775-777)atC>atT	p.I259I	ACTR3_uc010yyc.1_Silent_p.I197I|ACTR3_uc010yyd.1_Silent_p.I208I	NM_005721	NP_005712	P61158	ARP3_HUMAN	Homo sapiens ARP3 actin-related protein 3 homolog (yeast) (ACTR3), mRNA.	259					cellular component movement|cilium morphogenesis	Arp2/3 protein complex	ATP binding|actin binding			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						ATACTGGAATCAATGCTATCT	0.328													55	77					0	0	1	0	0	T	114699855	C	T	114699855	2	4	3	1	0	0	0	0	0	0	0	1	212	816	29	3		3	ACTR3	2	114699855	Silent	SNP	C	TCGA-CS-4942-01A-01D-1468-08	6203347	114699855	128499518	8	99											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								33	70					0	0	1	0	0	T	209113112	C	T	209113112	3	4	3	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08	94413257	209113112	34086261	9	100											
LAMB2	3913	broad.mit.edu	37	chr3	49159715	49159715	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctgcaatcgcacccgccagGtgctggatctgctcagctga	7	9	11	14	2	3	1	1	1	2	0	4	2	3	2	2	2	4	5	2	2	1	0			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr3:49159715G>A	uc003cwe.3	-	27	4961	c.4662C>T	c.(4660-4662)caC>caT	p.H1554H	USP19_uc003cwb.3_5'Flank|USP19_uc003cvz.4_5'Flank|USP19_uc011bcg.2_5'Flank|USP19_uc011bch.2_5'Flank|USP19_uc003cwd.2_5'Flank|USP19_uc011bci.2_5'Flank	NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	1554	Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACCCGCCAGGTGCTGGATCT	0.597													34	71					0	0	1	0	0	A	49159715	G	A	49159715	2	1	3	1	0	0	0	0	0	0	0	1	8611	1252	44	3		3	LAMB2	3	49159715	Silent	SNP	G	TCGA-CS-4942-01A-01D-1468-08		49159715	148862715	10	101											
POC1A	25886	broad.mit.edu	37	chr3	52159164	52159164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccagaagcaaaatactcccCcgttcttgaaaaggcaacag	15	7	7	12	1	1	2	0	1	1	1	3	2	3	2	3	1	3	3	3	1	7	3			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr3:52159164C>T	uc003dcu.3	-	7	1165	c.847G>A	c.(847-849)Ggg>Agg	p.G283R	POC1A_uc003dcv.3_Missense_Mutation_p.G245R|POC1A_uc003dcw.3_Missense_Mutation_p.G283R	NM_015426	NP_001155053	Q8NBT0	POC1A_HUMAN	Homo sapiens POC1 centriolar protein homolog A (Chlamydomonas) (POC1A), transcript variant 1, mRNA.	283						centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						AAATACTCCCCCGTTCTTGAA	0.433													31	76					0	0	1	0	0	T	52159164	C	T	52159164	3	4	3	1	0	0	0	0	1	0	0	0	12175	623	22	3	392	3	POC1A	3	52159164	Missense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08	2999449	52159164	145863266	11	102											
TBC1D9	23158	broad.mit.edu	37	chr4	141578954	141578954	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctcaaagacaccttggTccaccagtgcacctgtggca	9	8	9	15	0	1	1	1	0	0	1	3	1	3	1	5	2	1	3	5	2	1	1			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr4:141578954T>C	uc010ioj.3	-	11	2206	c.1934A>G	c.(1933-1935)gAc>gGc	p.D645G		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	645	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GACACCTTGGTCCACCAGTGC	0.502													96	154					0	0	1	0	0	C	141578954	T	C	141578954	3	2	3	1	0	0	0	0	1	0	0	0	15624	1667	58	3	1906	3	TBC1D9	4	141578954	Missense_Mutation	SNP	T	TCGA-CS-4942-01A-01D-1468-08		141578954	49575322	12	103											
GLRB	2743	broad.mit.edu	37	chr4	158065079	158065079	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggctttccttctggatcaAcccggacgcgagtgctgcca	6	10	11	14	3	2	0	1	0	1	0	3	3	3	2	3	3	3	2	3	3	1	2			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr4:158065079A>G	uc003ipj.2	+	7	1074	c.872A>G	c.(871-873)aAc>aGc	p.N291S	GLRB_uc021xtp.1_Missense_Mutation_p.N291S|GLRB_uc021xtq.1_Missense_Mutation_p.N291S	NM_000824	NP_001159532	P48167	GLRB_HUMAN	Homo sapiens glycine receptor, beta (GLRB), transcript variant 1, mRNA.	291					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TTCTGGATCAACCCGGACGCG	0.488													11	166					0	0	1	0	0	G	158065079	A	G	158065079	3	3	3	1	0	0	0	0	1	0	0	0	6458	43	2	3	898	3	GLRB	4	158065079	Missense_Mutation	SNP	A	TCGA-CS-4942-01A-01D-1468-08	16486125	158065079	33089197	13	104											
CDC20B	166979	broad.mit.edu	37	chr5	54436230	54436230	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttacaaagagttgttttagGcatttctgaaaataaacaca	16	13	7	5	0	1	2	0	1	1	1	1	2	1	2	0	1	2	4	0	1	7	6			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr5:54436230G>A	uc003jpo.2	-	4	669	c.492C>T	c.(490-492)tgC>tgT	p.C164C	CDC20B_uc003jpn.2_Silent_p.C164C|CDC20B_uc010ivu.2_Silent_p.C164C|CDC20B_uc010ivv.2_Silent_p.C164C|CDC20B_uc003jpp.3_Non-coding_Transcript	NM_001170402	NP_001163873	Q86Y33	CD20B_HUMAN	Homo sapiens cell division cycle 20 homolog B (S. cerevisiae) (CDC20B), transcript variant 3, mRNA.	164										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			GTTGTTTTAGGCATTTCTGAA	0.333													26	63					0	0	1	0	0	A	54436230	G	A	54436230	2	1	3	1	0	0	0	0	0	0	0	1	3060	1195	42	3		3	CDC20B	5	54436230	Silent	SNP	G	TCGA-CS-4942-01A-01D-1468-08		54436230	126479030	14	105											
PIK3R1	5295	broad.mit.edu	37	chr5	67575480	67575480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtgcacgttttggctgacGctttcaaacgctatctcctg	7	14	9	11	3	2	1	1	1	1	0	3	1	2	1	1	1	2	5	1	1	2	4			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr5:67575480G>A	uc003jva.3	+	4	1133	c.553G>A	c.(553-555)Gct>Act	p.A185T		NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	185	Rho-GAP.				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TTTGGCTGACGCTTTCAAACG	0.383			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			20	174					0	0	1	0	0	A	67575480	G	A	67575480	3	1	3	1	0	0	0	0	1	0	0	0	11918	1087	38	1	567	1	PIK3R1	5	67575480	Missense_Mutation	SNP	G	TCGA-CS-4942-01A-01D-1468-08	13139250	67575480	113339780	15	106											
HLA-DRA	3122	broad.mit.edu	37	chr6	32410420	32410420	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caacatagctgtggacaaagCcaacctggaaatcatgacaa	17	6	8	10	0	1	1	1	1	0	0	1	3	1	3	2	2	4	1	2	2	6	1			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr6:32410420C>A	uc003obh.3	+	1	387	c.278C>A	c.(277-279)gCc>gAc	p.A93D	HLA-DRA_uc003obi.3_Missense_Mutation_p.A93D	NM_019111	NP_061984	P01903	DRA_HUMAN	Homo sapiens major histocompatibility complex, class II, DR alpha (HLA-DRA), mRNA.	93	Alpha-1.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to plasma membrane|late endosome membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						GTGGACAAAGCCAACCTGGAA	0.493									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				80	147					2.08937e-45	2.22867e-45	1	1	0	A	32410420	C	A	32410420	3	1	3	1	0	0	0	0	1	0	0	0	7207	739	26	5	284	5	HLA-DRA	6	32410420	Missense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08		32410420	138704647	16	107											
ZNF292	23036	broad.mit.edu	37	chr6	87964677	87964677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaactcaatggccctttgatCcagaattctgggattggaaa	13	11	9	8	0	2	2	1	1	1	1	3	4	3	4	2	3	1	0	2	3	4	3			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr6:87964677C>T	uc003plm.4	+	7	1371	c.1330C>T	c.(1330-1332)Cca>Tca	p.P444S		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GCCCTTTGATCCAGAATTCTG	0.378													3	73					0	0	1	0	0	T	87964677	C	T	87964677	3	4	3	1	0	0	0	0	1	0	0	0	17823	855	30	3	1360	3	ZNF292	6	87964677	Missense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08	55554257	87964677	83150390	17	108											
PDE1C	5137	broad.mit.edu	37	chr7	31877484	31877484	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagccacaagcacacttacGcttctggctgctgcagagca	11	7	9	14	1	1	1	0	0	1	1	1	1	1	1	1	1	6	6	1	1	3	2			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr7:31877484G>A	uc003tcm.2	-	10	1543	c.1082_splice	c.e10+1	p.A361_splice	PDE1C_uc003tcn.1_Splice_Site_p.A361_splice|PDE1C_uc003tco.2_Splice_Site_p.A421_splice|PDE1C_uc003tcr.3_Splice_Site_p.A361_splice|PDE1C_uc003tcs.3_Splice_Site_p.A361_splice	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	361	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GCACACTTACGCTTCTGGCTG	0.428													86	248					0	0	1	0	0	A	31877484	G	A	31877484	5	1	3	1	0	0	0	0	0	0	1	0	11635	1101	38	1	854	1	PDE1C	7	31877484	Splice_Site	SNP	G	TCGA-CS-4942-01A-01D-1468-08		31877484	127261179	18	109											
ZNF16	7564	broad.mit.edu	37	chr8	146156188	146156191	+	Frame_Shift_Del	DEL	CAAG	CAAG	-																															gctggctgaaggctttcccaCaagcagcacagtcatagggc																										TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr8:146156188_146156191delCAAG	uc003zet.3	-	3	2169_2172	c.1982_1985delCTTG	c.(1981-1986)gcttgtfs	p.A661fs	ZNF16_uc003zeu.3_Frame_Shift_Del_p.A661fs	NM_001029976	NP_008889	P17020	ZNF16_HUMAN	Homo sapiens zinc finger protein 16 (ZNF16), transcript variant 2, mRNA.	661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		GGCTTTCCCACAAGCAGCACAGTC	0.525													13	227	---	---	---	---						-	146156191	CAAG	-	146156188	7	5	3	1	0	1	0	1	0	0	0	0	17735	478	17	0	67	0	ZNF16	8	146156188	Frame_Shift_Del	DEL	CAAG	TCGA-CS-4942-01A-01D-1468-08		146156188	207834	19	110											
GRIN3A	116443	broad.mit.edu	37	chr9	104499941	104499941	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggcttacgggagcccggCggcccccggccatgcagggt	4	4	17	16	5	0	0	0	0	0	0	0	1	0	1	5	6	3	2	5	6	1	1			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr9:104499941C>T	uc004bbp.2	-	0	922	c.321G>A	c.(319-321)ccG>ccA	p.P107P	GRIN3A_uc004bbq.1_Silent_p.P107P	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	107					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding	p.G106W(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GGGAGCCCGGCGGCCCCCGGC	0.751													8	6					0	0	1	0	0	T	104499941	C	T	104499941	2	4	3	1	0	0	0	0	0	0	0	1	6783	755	27	1		1	GRIN3A	9	104499941	Silent	SNP	C	TCGA-CS-4942-01A-01D-1468-08		104499941	36713490	20	111											
SYNPO2L	79933	broad.mit.edu	37	chr10	75406654	75406654	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccagttctgttctccagAtgggctcatccagtgtagtg	7	12	12	10	0	3	1	1	0	2	1	5	1	4	1	3	2	0	4	3	2	1	3			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr10:75406654A>G	uc001jut.4	-	3	2908	c.2756T>C	c.(2755-2757)aTc>aCc	p.I919T	SYNPO2L_uc001jus.4_Missense_Mutation_p.I695T	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	Homo sapiens synaptopodin 2-like (SYNPO2L), transcript variant 1, mRNA.	919	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					TGTTCTCCAGATGGGCTCATC	0.652													30	40					0	0	1	0	0	G	75406654	A	G	75406654	3	3	3	1	0	0	0	0	1	0	0	0	15455	333	12	3	181	3	SYNPO2L	10	75406654	Missense_Mutation	SNP	A	TCGA-CS-4942-01A-01D-1468-08		75406654	60128093	21	112											
LRIT1	26103	broad.mit.edu	37	chr10	86001161	86001161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgggggggccacgcaaggGccaagagccagagcatgcct	9	3	16	13	1	0	2	0	0	0	2	0	2	0	2	5	4	3	2	5	4	2	0			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr10:86001161G>A	uc001kcz.1	-	0	57	c.35C>T	c.(34-36)gCc>gTc	p.A12V		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA.	12						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CCACGCAAGGGCCAAGAGCCA	0.677													6	19					0	0	1	0	0	A	86001161	G	A	86001161	3	1	3	1	0	0	0	0	1	0	0	0	8947	1203	42	3	1852	3	LRIT1	10	86001161	Missense_Mutation	SNP	G	TCGA-CS-4942-01A-01D-1468-08	10594507	86001161	49533586	22	113											
F2	2147	broad.mit.edu	37	chr11	46760818	46760818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcatctttcttcttcagagcCcctttaacaaccgctggtat	8	15	5	13	1	5	1	2	0	3	1	5	1	5	1	3	1	3	2	3	1	3	6			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr11:46760818C>T	uc001ndf.4	+	13	1772	c.1729C>T	c.(1729-1731)Ccc>Tcc	p.P577S		NM_000506	NP_000497	P00734	THRB_HUMAN	Homo sapiens coagulation factor II (thrombin) (F2), mRNA.	577	Peptidase S1.				STAT protein import into nucleus|activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|tyrosine phosphorylation of STAT protein	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular space|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	TCTTCAGAGCCCCTTTAACAA	0.478													51	95					0	0	1	0	0	T	46760818	C	T	46760818	3	4	3	1	0	0	0	0	1	0	0	0	5342	623	22	3	1783	3	F2	11	46760818	Missense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08		46760818	88245698	23	114											
WNT11	7481	broad.mit.edu	37	chr11	75902837	75902837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagccccttccagcaggtgcGgatggagcaggagccagaca	10	4	14	13	1	0	1	0	0	0	1	1	4	1	4	4	4	5	2	4	4	0	1			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr11:75902837G>A	uc001oxe.3	-	3	784	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C	WNT11_uc001oxf.1_Missense_Mutation_p.R221C	NM_004626	NP_004617	O96014	WNT11_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 11 (WNT11), mRNA.	221					Wnt receptor signaling pathway, calcium modulating pathway|adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|Ras GTPase activator activity|protein kinase activator activity|transcription regulatory region DNA binding	p.R221C(6)		breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						CAGCAGGTGCGGATGGAGCAG	0.637													4	89					0	0	1	0	0	A	75902837	G	A	75902837	3	1	3	1	0	0	0	0	1	0	0	0	17381	1116	39	2	411	2	WNT11	11	75902837	Missense_Mutation	SNP	G	TCGA-CS-4942-01A-01D-1468-08	29142019	75902837	59103679	24	115											
DGKH	160851	broad.mit.edu	37	chr13	42763202	42763202	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaacgagaagctcgaacaaCtgctgcaggctttgcacaca	14	7	9	11	2	0	1	0	0	0	1	1	3	0	1	0	1	7	5	0	1	5	2			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr13:42763202C>T	uc001uyl.2	+	14	1736	c.1669C>T	c.(1669-1671)Ctg>Ttg	p.L557L	DGKH_uc010tfh.2_Silent_p.L557L|DGKH_uc001uym.2_Silent_p.L557L|DGKH_uc001uyn.2_Non-coding_Transcript|DGKH_uc010tfi.2_Silent_p.L312L|DGKH_uc001uyo.2_Silent_p.L421L|DGKH_uc010tfj.2_Silent_p.L421L|DGKH_uc001uyp.3_Non-coding_Transcript	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	Homo sapiens diacylglycerol kinase, eta (DGKH), transcript variant 2, mRNA.	557					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GCTCGAACAACTGCTGCAGGC	0.463													6	112					0	0	1	0	0	T	42763202	C	T	42763202	2	4	3	1	0	0	0	0	0	0	0	1	4470	564	20	3		3	DGKH	13	42763202	Silent	SNP	C	TCGA-CS-4942-01A-01D-1468-08		42763202	72406676	25	116											
C16orf71	146562	broad.mit.edu	37	chr16	4786629	4786629	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccagctcccgtctctggaCtcagactcccctttggtaag	7	10	9	15	1	2	1	1	0	1	1	5	3	4	2	4	2	1	2	4	2	1	2			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr16:4786629C>G	uc002cxn.3	+	1	576	c.114C>G	c.(112-114)gaC>gaG	p.D38E	ANKS3_uc002cxj.2_5'Flank|ANKS3_uc021tcj.1_5'Flank|ANKS3_uc021tck.1_5'Flank|ANKS3_uc002cxk.3_5'Flank|ANKS3_uc010uxs.2_5'Flank|ANKS3_uc002cxm.3_5'Flank	NM_139170	NP_631909	Q8IYS4	CP071_HUMAN	Homo sapiens chromosome 16 open reading frame 71 (C16orf71), mRNA.	38										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CGTCTCTGGACTCAGACTCCC	0.592													6	138					0	0	1	0	0	G	4786629	C	G	4786629	3	3	3	1	0	0	0	0	1	0	0	0	1830	564	20	5	116	5	C16orf71	16	4786629	Missense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08		4786629	85568124	26	117											
RABEP2	79874	broad.mit.edu	37	chr16	28922261	28922261	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacggtcccttgcagggtcCgcagcagctgctctgagttc	5	10	12	14	2	2	1	1	1	1	0	5	1	4	1	2	2	4	6	2	2	0	2			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr16:28922261C>T	uc002drq.3	-	6	1085	c.1037G>A	c.(1036-1038)cGg>cAg	p.R346Q	NPIPL1_uc010vct.2_Intron|RABEP2_uc010vdf.2_Missense_Mutation_p.R275Q|RABEP2_uc010byn.3_Missense_Mutation_p.R314Q|RABEP2_uc002drr.3_Missense_Mutation_p.R346Q	NM_024816	NP_079092	Q9H5N1	RABE2_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 2 (RABEP2), mRNA.	346					endocytosis|protein transport	early endosome	GTPase activator activity|growth factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						TTGCAGGGTCCGCAGCAGCTG	0.677													4	51					0	0	1	0	0	T	28922261	C	T	28922261	3	4	3	1	0	0	0	0	1	0	0	0	12962	652	23	2	700	2	RABEP2	16	28922261	Missense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08	24135632	28922261	61432492	27	118											
TP53	7157	broad.mit.edu	37	chr17	7577114	7577114	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctctcccaggacaggcaCaaacacgcacctcaaagctg	12	5	9	15	1	2	0	1	0	1	0	4	1	3	1	2	3	2	3	2	3	2	0			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr17:7577114C>A	uc002gim.2	-	7	1018	c.824G>T	c.(823-825)tGt>tTt	p.C275F	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.C275F|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C143F|TP53_uc010cnf.1_Missense_Mutation_p.C143F|TP53_uc002gii.1_Missense_Mutation_p.C143F|TP53_uc010cni.1_Missense_Mutation_p.C275F|TP53_uc010cnh.1_Missense_Mutation_p.C275F|TP53_uc002gij.2_Missense_Mutation_p.C275F|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.	275	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C275Y(106)|p.C275F(72)|p.V274F(19)|p.V274A(16)|p.V274L(10)|p.C275R(8)|p.V274D(8)|p.0?(8)|p.C275G(7)|p.C275W(7)|p.V274G(7)|p.C275fs*70(6)|p.C275C(4)|p.C275S(4)|p.V274I(4)|p.V274V(3)|p.R273_C275delRVC(2)|p.V274_P278del(2)|p.C275fs*31(2)|p.F270_D281del12(2)|p.C275_R283delCACPGRDRR(2)|p.?(2)|p.L265_K305del41(2)|p.C275fs*67(2)|p.V272_K292del21(2)|p.C275fs*20(2)|p.V274fs*71(1)|p.C275_A276ins10(1)|p.C275*(1)|p.S269fs*21(1)|p.A276fs*29(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)		AGGACAGGCACAAACACGCAC	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	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)			52	11					1.17475e-09	1.22583e-09	1	1	0	A	7577114	C	A	7577114	3	1	3	1	0	0	0	0	1	0	0	0	16378	478	17	5	462	5	TP53	17	7577114	Missense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08		7577114	73618096	28	119											
YES1	7525	broad.mit.edu	37	chr18	756710	756710	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagatgacggacatggtgAcactgtagtgggttctgctc	9	11	14	7	1	1	4	0	3	1	1	2	5	1	5	0	3	1	3	0	3	2	2			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr18:756710A>G	uc002kky.3	-	1	339	c.118T>C	c.(118-120)Tca>Cca	p.S40P	YES1_uc002kkz.3_Missense_Mutation_p.S40P	NM_005433	NP_005424	P07947	YES_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1 (YES1), mRNA.	40					T cell costimulation|blood coagulation|leukocyte migration|regulation of vascular permeability	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	GGACATGGTGACACTGTAGTG	0.453													108	174					0	0	1	0	0	G	756710	A	G	756710	3	3	3	1	0	0	0	0	1	0	0	0	17471	275	10	3	1557	3	YES1	18	756710	Missense_Mutation	SNP	A	TCGA-CS-4942-01A-01D-1468-08		756710	77320538	29	120											
WDR18	57418	broad.mit.edu	37	chr19	991974	991974	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccagtcaccaatgccgcCatcctgctggcgcccgtcag	6	6	11	18	3	2	0	2	0	0	0	3	0	3	0	6	2	2	1	6	2	1	0			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr19:991974C>T	uc002lqm.1	+	7	977	c.951C>T	c.(949-951)gcC>gcT	p.A317A		NM_024100	NP_077005	Q9BV38	WDR18_HUMAN	Homo sapiens WD repeat domain 18 (WDR18), mRNA.	317										endometrium(1)|kidney(2)|lung(2)|skin(2)	7		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)		CCAATGCCGCCATCCTGCTGG	0.711													3	9					0	0	1	0	0	T	991974	C	T	991974	2	4	3	1	0	0	0	0	0	0	0	1	17275	581	21	3		3	WDR18	19	991974	Silent	SNP	C	TCGA-CS-4942-01A-01D-1468-08		991974	58137009	30	121											
IL2RB	3560	broad.mit.edu	37	chr22	37524163	37524163	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgagttgggtcctgaccCtggagttcttggagggacaa	9	10	15	7	0	1	2	0	2	1	0	2	5	2	5	2	4	0	2	2	4	2	3			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr22:37524163C>A	uc003aqv.1	-	9	1760	c.1629G>T	c.(1627-1629)caG>caT	p.Q543H		NM_000878	NP_000869	P14784	IL2RB_HUMAN	Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA.	543					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGTCCTGACCCTGGAGTTCTT	0.627													3	54					1	1	1	1	0	A	37524163	C	A	37524163	3	1	3	1	0	0	0	0	1	0	0	0	7687	680	24	5	30	5	IL2RB	22	37524163	Missense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08		37524163	13780403	31	122											
KAL1	3730	broad.mit.edu	37	chrX	8555923	8555923	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccacatagatcacaggcTcaatagaaatattgaatttc	16	11	6	8	0	2	3	2	1	0	2	3	3	2	3	1	1	1	2	1	1	7	6			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chrX:8555923T>C	uc004csf.3	-	4	788	c.638A>G	c.(637-639)gAg>gGg	p.E213G		NM_000216	NP_000207	P23352	KALM_HUMAN	Homo sapiens Kallmann syndrome 1 sequence (KAL1), mRNA.	213	Fibronectin type-III 1.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						GATCACAGGCTCAATAGAAAT	0.468													19	22					0	0	1	0	0	C	8555923	T	C	8555923	3	2	3	1	0	0	0	0	1	0	0	0	7974	1551	54	4	1444	4	KAL1	23	8555923	Missense_Mutation	SNP	T	TCGA-CS-4942-01A-01D-1468-08		8555923	146714637	32	123											
BCOR	54880	broad.mit.edu	37	chrX	39923699	39923699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcgtttcctgtccaccCggagggtggggctgtgaggc	3	11	16	11	2	0	1	0	1	0	0	2	2	2	2	3	5	1	2	3	5	0	2			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chrX:39923699C>T	uc004den.4	-	6	3684	c.3392G>A	c.(3391-3393)cGg>cAg	p.R1131Q	BCOR_uc004dep.4_Missense_Mutation_p.R1131Q|BCOR_uc004deo.4_Missense_Mutation_p.R1113Q|BCOR_uc010nhb.3_5'Flank|BCOR_uc004dem.4_Missense_Mutation_p.R1131Q	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1131					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	p.R1131L(2)|p.L1130L(1)		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						CCTGTCCACCCGGAGGGTGGG	0.607			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						29	60					0	0	1	0	0	T	39923699	C	T	39923699	3	4	3	1	0	0	0	0	1	0	0	0	1386	652	23	2	1911	2	BCOR	23	39923699	Missense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08	31367776	39923699	115346861	33	124											
USP51	158880	broad.mit.edu	37	chrX	55514658	55514658	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgttcatatgggtactacAtacgtgacagatgcatgact	11	13	9	8	1	2	3	1	2	1	1	2	3	2	3	0	1	4	3	0	1	4	5			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chrX:55514658A>G	uc022bxu.1	-	0	715	c.715T>C	c.(715-717)Tgt>Cgt	p.C239R	USP51_uc004dun.2_Missense_Mutation_p.C239R	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	Homo sapiens ubiquitin specific peptidase 51 (USP51), mRNA.	239					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TGGGTACTACATACGTGACAG	0.453													42	70					0	0	1	0	0	G	55514658	A	G	55514658	3	3	3	1	0	0	0	0	1	0	0	0	17080	217	8	3	1424	3	USP51	23	55514658	Missense_Mutation	SNP	A	TCGA-CS-4942-01A-01D-1468-08	15590959	55514658	99755902	34	125											
ATRX	546	broad.mit.edu	37	chrX	76854942	76854942	+	Frame_Shift_Del	DEL	C	C	-																															catccacatttccttcaccaCctccccgagatcttgaattc																										TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chrX:76854942delC	uc004ecp.4	-	24	6126	c.5894delG	c.(5893-5895)ggtfs	p.G1965fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.G1927fs|ATRX_uc004eco.4_Frame_Shift_Del_p.G1750fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1965					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.G1964A(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCCTTCACCACCTCCCCGAGA	0.388			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						308	498	---	---	---	---						-	76854942	C	-	76854942	7	5	3	1	0	1	0	1	0	0	0	0	1208	507	18	0	1628	0	ATRX	23	76854942	Frame_Shift_Del	DEL	C	TCGA-CS-4942-01A-01D-1468-08	21340284	76854942	78415618	35	126											
FRMD7	90167	broad.mit.edu	37	chrX	131216497	131216497	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccacacaagtcttccagaAagccttgcaggcatctcggc	10	9	8	14	1	2	1	0	0	2	1	5	1	4	1	3	2	2	2	3	2	2	3			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chrX:131216497A>G	uc004ewn.3	-	8	977	c.799T>C	c.(799-801)Ttc>Ctc	p.F267L	FRMD7_uc022cdy.1_Missense_Mutation_p.F147L|FRMD7_uc011muy.2_Missense_Mutation_p.F252L	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	267	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GTCTTCCAGAAAGCCTTGCAG	0.463													140	259					0	0	1	0	0	G	131216497	A	G	131216497	3	3	3	1	0	0	0	0	1	0	0	0	6055	14	1	3	1361	3	FRMD7	23	131216497	Missense_Mutation	SNP	A	TCGA-CS-4942-01A-01D-1468-08	54361555	131216497	24054063	36	127											
GBP1	2633	broad.mit.edu	37	chr1	89520410	89520410	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcttgctctttcagcaactgGaccctgtcgttctccatctt	5	16	6	14	1	5	0	1	0	4	0	7	1	5	1	2	1	3	3	2	1	1	4			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr1:89520410G>C	uc001dmx.2	-	9	1840	c.1620C>G	c.(1618-1620)gtC>gtG	p.V540V		NM_002053	NP_002044	P32455	GBP1_HUMAN	Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA.	540					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TCAGCAACTGGACCCTGTCGT	0.433													86	281					0	0	0.870114	0	0	C	89520410	G	C	89520410	2	2	4	1	0	0	0	0	0	0	0	1	6273	1161	41	5		5	GBP1	1	89520410	Silent	SNP	G	TCGA-CS-4943-01A-01D-1468-08		89520410	159730211	1	128											
RSBN1	54665	broad.mit.edu	37	chr1	114310931	114310931	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgacatgatcagcatgagctCtagtcctatcttcaaagaga	13	10	8	10	1	4	3	2	2	2	1	5	5	5	3	1	0	2	2	1	0	3	3			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr1:114310931C>G	uc001edq.3	-	4	1775	c.1739G>C	c.(1738-1740)aGa>aCa	p.R580T	RSBN1_uc001edr.3_Non-coding_Transcript	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	Homo sapiens round spermatid basic protein 1 (RSBN1), mRNA.	580						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCATGAGCTCTAGTCCTATC	0.433													45	67					0	0	0.859065	0	0	G	114310931	C	G	114310931	3	3	4	1	0	0	0	0	1	0	0	0	13696	913	32	5	681	5	RSBN1	1	114310931	Missense_Mutation	SNP	C	TCGA-CS-4943-01A-01D-1468-08	24790521	114310931	134939690	2	129											
ROCK2	9475	broad.mit.edu	37	chr2	11355517	11355517	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctttttttcaaatcttcaAgttgatcttttaagctgtta	9	22	4	6	0	5	1	2	1	3	0	5	1	5	1	0	0	1	3	0	0	4	9			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr2:11355517A>T	uc002rbd.1	-	14	2068	c.1619T>A	c.(1618-1620)cTt>cAt	p.L540H		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.	540	Interaction with PPP1R12A.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CAAATCTTCAAGTTGATCTTT	0.308													33	40					0	0	0.740014	0	0	T	11355517	A	T	11355517	3	4	4	1	0	0	0	0	1	0	0	0	13518	72	3	5	2623	5	ROCK2	2	11355517	Missense_Mutation	SNP	A	TCGA-CS-4943-01A-01D-1468-08		11355517	231843856	3	130											
LIMS2	55679	broad.mit.edu	37	chr2	128399630	128399630	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcctggctcacctccacGtgccactgcttgcccagcgc	5	7	9	20	2	1	0	1	0	0	0	2	0	2	0	6	1	5	2	6	1	0	1			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr2:128399630G>A	uc002tpa.3	-	5	820	c.654C>T	c.(652-654)caC>caT	p.H218H	LIMS2_uc002tov.3_Silent_p.H66H|LIMS2_uc002tow.3_Silent_p.H66H|LIMS2_uc002tox.3_Silent_p.H242H|LIMS2_uc010fmb.3_Silent_p.H128H|LIMS2_uc002toy.3_Silent_p.H213H|LIMS2_uc002toz.3_Silent_p.H213H|LIMS2_uc010yzm.2_Silent_p.H240H|LIMS2_uc002tpb.3_Silent_p.H213H	NM_001161403	NP_001154876	Q7Z4I7	LIMS2_HUMAN	Homo sapiens LIM and senescent cell antigen-like domains 2 (LIMS2), transcript variant 3, mRNA.	218	LIM zinc-binding 4.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding	p.H242H(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		TCACCTCCACGTGCCACTGCT	0.677													15	26					0	0	0.539581	0	0	A	128399630	G	A	128399630	2	1	4	1	0	0	0	0	0	0	0	1	8804	1136	40	1		1	LIMS2	2	128399630	Silent	SNP	G	TCGA-CS-4943-01A-01D-1468-08	117044113	128399630	114799743	4	131											
CALCRL	10203	broad.mit.edu	37	chr2	188225389	188225389	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacggccaccacaatgagTgtgtgtaggtaaatgccttc	12	9	10	10	1	0	1	0	1	0	0	1	1	0	1	3	2	2	2	3	2	5	3			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr2:188225389T>G	uc010frt.3	-	8	1100	c.717A>C	c.(715-717)acA>acC	p.T239T	CALCRL_uc002upv.4_Silent_p.T239T	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	239						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			CCACAATGAGTGTGTGTAGGT	0.403													36	42					0	0	0.796494	0	0	G	188225389	T	G	188225389	2	3	4	1	0	0	0	0	0	0	0	1	2580	1683	59	5		5	CALCRL	2	188225389	Silent	SNP	T	TCGA-CS-4943-01A-01D-1468-08	59825759	188225389	54973984	5	132											
ALS2	57679	broad.mit.edu	37	chr2	202609063	202609063	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctgtagtagctaactcGtggagactggcaatataccc	10	12	9	10	1	1	1	0	0	1	1	2	2	1	1	1	2	3	4	1	2	6	6			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr2:202609063G>A	uc002uyo.3	-	9	2444	c.2088C>T	c.(2086-2088)caC>caT	p.H696H	ALS2_uc002uyp.4_Silent_p.H696H|ALS2_uc002uyq.3_Silent_p.H696H|ALS2_uc010ftl.3_Non-coding_Transcript	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	696	DH.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TAGCTAACTCGTGGAGACTGG	0.398													31	35					0	0	0.740014	0	0	A	202609063	G	A	202609063	2	1	4	1	0	0	0	0	0	0	0	1	550	1136	40	1		1	ALS2	2	202609063	Silent	SNP	G	TCGA-CS-4943-01A-01D-1468-08	14383674	202609063	40590310	6	133											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								41	48					0	0	0.840704	0	0	T	209113112	C	T	209113112	3	4	4	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CS-4943-01A-01D-1468-08	6504049	209113112	34086261	7	134											
KCNH8	131096	broad.mit.edu	37	chr3	19575087	19575087	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctacacttgcaaacaggCggggctgcttatacccaagc	10	8	10	13	1	0	0	0	0	0	0	0	0	0	0	2	3	7	3	2	3	5	4	rs151258565	by1000genomes	TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr3:19575087C>T	uc003cbk.1	+	15	3015	c.2820C>T	c.(2818-2820)ggC>ggT	p.G940G	KCNH8_uc010hex.1_Silent_p.G401G	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	940						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TGCAAACAGGCGGGGCTGCTT	0.542													50	76					0	0	0.870114	0	0	T	19575087	C	T	19575087	2	4	4	1	0	0	0	0	0	0	0	1	8038	755	27	1		1	KCNH8	3	19575087	Silent	SNP	C	TCGA-CS-4943-01A-01D-1468-08		19575087	178447343	8	135											
MCM2	4171	broad.mit.edu	37	chr3	127337890	127337890	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacgagatgctggcccgcttCgtggtgggcagccacgtcag	6	7	16	12	4	1	1	1	0	0	1	2	3	1	1	2	3	2	3	2	3	0	1			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr3:127337890C>T	uc003ejp.3	+	12	2091	c.2034C>T	c.(2032-2034)ttC>ttT	p.F678F	MCM2_uc011bkm.2_Silent_p.F548F|MCM2_uc010hsl.3_Non-coding_Transcript|MCM2_uc011bkn.2_Silent_p.F631F	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	678	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex|chromatin	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						TGGCCCGCTTCGTGGTGGGCA	0.632													5	24					0	0	0.217242	0	0	T	127337890	C	T	127337890	2	4	4	1	0	0	0	0	0	0	0	1	9386	883	31	2		2	MCM2	3	127337890	Silent	SNP	C	TCGA-CS-4943-01A-01D-1468-08	107762803	127337890	70684540	9	136											
CP	1356	broad.mit.edu	37	chr3	148930358	148930358	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgataatagggcctaaaaAcccaagccagaccggttttt	13	11	8	9	1	0	2	0	1	0	1	0	2	0	2	4	2	2	1	4	2	6	6			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr3:148930358A>G	uc003ewy.4	-	1	527	c.274T>C	c.(274-276)Ttt>Ctt	p.F92L	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewz.3_Missense_Mutation_p.F92L	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	92	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GGGCCTAAAAACCCAAGCCAG	0.398													6	88					0	0	0.217242	0	0	G	148930358	A	G	148930358	3	3	4	1	0	0	0	0	1	0	0	0	3787	43	2	3	2995	3	CP	3	148930358	Missense_Mutation	SNP	A	TCGA-CS-4943-01A-01D-1468-08	21592468	148930358	49092072	10	137											
AQPEP	206338	broad.mit.edu	37	chr5	115351039	115351039	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcttgttaaatacttacacTaatacaacaaacaaagaaga	21	10	3	7	0	1	2	0	0	1	2	1	2	1	2	0	0	5	1	0	0	10	6			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr5:115351039T>C	uc003kro.3	+	16	2705	c.2541T>C	c.(2539-2541)acT>acC	p.T847T	AQPEP_uc003krp.3_Non-coding_Transcript|AQPEP_uc003krs.3_Non-coding_Transcript|AQPEP_uc003krq.3_Non-coding_Transcript|AQPEP_uc003krr.3_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	847					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										ATACTTACACTAATACAACAA	0.348													6	86					0	0	0.217242	0	0	C	115351039	T	C	115351039	2	2	4	1	0	0	0	0	0	0	0	1	834	1509	53	4		4	AQPEP	5	115351039	Silent	SNP	T	TCGA-CS-4943-01A-01D-1468-08		115351039	65564221	11	138											
GFPT2	9945	broad.mit.edu	37	chr5	179740844	179740844	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatctccggccctgcgttgAtgtggacgccgcagtcggtc	4	9	14	14	6	1	1	0	1	1	0	4	3	1	2	3	3	1	2	3	3	0	1			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr5:179740844A>T	uc003mlw.1	-	13	1492	c.1394T>A	c.(1393-1395)aTc>aAc	p.I465N		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	465	SIS 1.				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CCCTGCGTTGATGTGGACGCC	0.701													6	10					0	0	0.335167	0	0	T	179740844	A	T	179740844	3	4	4	1	0	0	0	0	1	0	0	0	6346	333	12	5	678	5	GFPT2	5	179740844	Missense_Mutation	SNP	A	TCGA-CS-4943-01A-01D-1468-08	64389805	179740844	1174416	12	139											
ROS1	6098	broad.mit.edu	37	chr6	117609712	117609712	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcatagttcaggccttcAggcttgccagaagggcagta	10	8	13	10	0	2	1	2	0	0	1	2	1	2	1	2	4	1	5	2	4	3	5			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr6:117609712A>G	uc003pxp.1	-	42	7186	c.6987T>C	c.(6985-6987)ccT>ccC	p.P2329P	ROS1_uc011ebi.1_Non-coding_Transcript	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2329					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCAGGCCTTCAGGCTTGCCAG	0.438			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								43	69					0	0	0.853193	0	0	G	117609712	A	G	117609712	2	3	4	1	0	0	0	0	0	0	0	1	13531	175	7	4		4	ROS1	6	117609712	Silent	SNP	A	TCGA-CS-4943-01A-01D-1468-08		117609712	53505355	13	140											
NKAIN2	154215	broad.mit.edu	37	chr6	124979504	124979504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccagtacatagaagtggCtcatagttccctccagattg	11	11	9	10	0	1	2	1	0	0	2	3	2	3	2	3	1	2	4	3	1	5	6			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr6:124979504C>T	uc003pzo.3	+	3	723	c.446C>T	c.(445-447)gCt>gTt	p.A149V	NKAIN2_uc003pzn.1_Missense_Mutation_p.A149V|NKAIN2_uc010keq.3_Intron|NKAIN2_uc003pzp.3_Missense_Mutation_p.A148V|NKAIN2_uc010ker.3_Missense_Mutation_p.A59V	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 2 (NKAIN2), transcript variant 1, mRNA.	149						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		ATAGAAGTGGCTCATAGTTCC	0.542													38	50					0	0	0.819951	0	0	T	124979504	C	T	124979504	3	4	4	1	0	0	0	0	1	0	0	0	10436	797	28	3	460	3	NKAIN2	6	124979504	Missense_Mutation	SNP	C	TCGA-CS-4943-01A-01D-1468-08	7369792	124979504	46135563	14	141											
EIF3B	8662	broad.mit.edu	37	chr7	2404028	2404028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatggacagagacgtatgtgCgttggtctcctaagggcacc	9	9	14	9	2	1	1	0	0	1	1	2	4	1	2	2	3	1	3	2	3	2	3			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr7:2404028C>T	uc003slx.3	+	5	1104	c.1021C>T	c.(1021-1023)Cgt>Tgt	p.R341C	EIF3B_uc003sly.3_Missense_Mutation_p.R341C|EIF3B_uc003slz.1_Missense_Mutation_p.R302C|EIF3B_uc003sma.3_Missense_Mutation_p.R69C	NM_003751	NP_003742	P55884	EIF3B_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit B (EIF3B), transcript variant 1, mRNA.	341	Sufficient for interaction with EIF3E.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GACGTATGTGCGTTGGTCTCC	0.458													88	107					0	0	0.870114	0	0	T	2404028	C	T	2404028	3	4	4	1	0	0	0	0	1	0	0	0	5013	768	27	1	1043	1	EIF3B	7	2404028	Missense_Mutation	SNP	C	TCGA-CS-4943-01A-01D-1468-08		2404028	156734635	15	142											
PKD1L1	168507	broad.mit.edu	37	chr7	47876598	47876598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaggacacggtgaggcgcGgcgtgtgcaggtagcggctg	8	5	20	8	5	0	2	0	1	0	1	0	3	0	3	0	6	2	3	0	6	2	1			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr7:47876598G>A	uc003tny.2	-	36	5898	c.5864C>T	c.(5863-5865)cCg>cTg	p.P1955L		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1955					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGTGAGGCGCGGCGTGTGCAG	0.582													3	41					0	0	0.150653	0	0	A	47876598	G	A	47876598	3	1	4	1	0	0	0	0	1	0	0	0	11964	1116	39	2	2769	2	PKD1L1	7	47876598	Missense_Mutation	SNP	G	TCGA-CS-4943-01A-01D-1468-08	45472570	47876598	111262065	16	143											
CDKN2A	1029	broad.mit.edu	37	chr9	21974684	21974684	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accctctacccacctggatcGgcctccgaccgtaactattc	8	9	6	18	3	1	0	0	0	1	0	4	2	2	1	6	2	2	1	6	2	3	4			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr9:21974684G>C	uc003zpk.3	-	0	449	c.143C>G	c.(142-144)cCg>cGg	p.P48R	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_Missense_Mutation_p.P48R|CDKN2A_uc010miu.3_Missense_Mutation_p.P48R|CDKN2A_uc003zpl.3_Intron	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	48			P -> L (in CMM2 and a head and neck tumor; somatic mutation).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.?(25)|p.P48L(18)|p.P48R(2)|p.V28_V51del(2)|p.P48P(1)|p.0(1)|p.R47fs(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CACCTGGATCGGCCTCCGACC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			10	21					0	0	0.38729	0	0	C	21974684	G	C	21974684	3	2	4	1	0	0	0	0	1	0	0	0	3161	1116	39	5	540	5	CDKN2A	9	21974684	Missense_Mutation	SNP	G	TCGA-CS-4943-01A-01D-1468-08		21974684	119238747	17	144											
WNK2	65268	broad.mit.edu	37	chr9	96080327	96080327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggttcctgtggtccacgcGccgtctccacacccacttcc	5	10	8	18	3	1	0	0	0	1	0	5	0	4	0	6	2	0	1	6	2	1	3			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr9:96080327G>A	uc011lud.1	+	28	6646	c.6646G>A	c.(6646-6648)Gcc>Acc	p.A2216T	WNK2_uc004atj.3_Intron|WNK2_uc004atk.3_3'UTR	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	0					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	p.T2215fs*31(1)		breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGGTCCACGCGCCGTCTCCAC	0.582													7	104					0	0	0.38729	0	0	A	96080327	G	A	96080327	3	1	4	1	0	0	0	0	1	0	0	0	17375	1102	38	1		1	WNK2	9	96080327	Missense_Mutation	SNP	G	TCGA-CS-4943-01A-01D-1468-08	74105643	96080327	45133104	18	145											
XPA	7507	broad.mit.edu	37	chr9	100459509	100459509	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgatactcgcccgcaccgaGgcaggcagctccgcgggttg	6	6	14	15	6	0	0	0	0	0	0	3	2	1	0	3	3	2	5	3	3	1	2			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr9:100459509G>A	uc004axr.4	-	0	183	c.66C>T	c.(64-66)gcC>gcT	p.A22A	XPA_uc004axs.4_Non-coding_Transcript	NM_000380	NP_000371	P23025	XPA_HUMAN	Homo sapiens xeroderma pigmentosum, complementation group A (XPA), transcript variant 1, mRNA.	22	Interaction with CEP164 and required for UV resistance.				nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity			breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				CCCGCACCGAGGCAGGCAGCT	0.736			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				4	12					0	0	0.184627	0	0	A	100459509	G	A	100459509	2	1	4	1	0	0	0	0	0	0	0	1	17437	987	35	3		3	XPA	9	100459509	Silent	SNP	G	TCGA-CS-4943-01A-01D-1468-08	4379182	100459509	40753922	19	146											
NUP214	8021	broad.mit.edu	37	chr9	134073213	134073213	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtttttcatttggaagccaAcagaccaatagcacagtgcc	13	10	8	10	0	1	1	1	0	0	1	1	2	1	2	3	1	4	2	3	1	4	4			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr9:134073213A>G	uc004cag.3	+	28	4443	c.4332A>G	c.(4330-4332)caA>caG	p.Q1444Q	NUP214_uc004cah.3_Silent_p.Q1434Q|NUP214_uc004cai.3_Silent_p.Q874Q|NUP214_uc010mzg.3_Non-coding_Transcript|NUP214_uc011mcg.2_Silent_p.Q270Q|NUP214_uc011mcf.1_Silent_p.Q221Q|NUP214_uc010mzh.1_5'UTR|NUP214_uc010mzi.1_5'UTR	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	1444	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TTGGAAGCCAACAGACCAATA	0.522			T	"DEK, SET, ABL1"	"AML, T-ALL"								20	98					0	0	0.592651	0	0	G	134073213	A	G	134073213	2	3	4	1	0	0	0	0	0	0	0	1	10762	40	2	3		3	NUP214	9	134073213	Silent	SNP	A	TCGA-CS-4943-01A-01D-1468-08	33613704	134073213	7140218	20	147											
GLYAT	10249	broad.mit.edu	37	chr11	58477535	58477535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggaaaggtctgaatgcagcGctcaatgaatctctggctcc	10	9	12	10	1	3	2	1	2	2	0	5	3	4	3	1	3	2	3	1	3	4	0	rs138125182		TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr11:58477535G>A	uc001nnb.3	-	5	750	c.595C>T	c.(595-597)Cgc>Tgc	p.R199C		NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	Homo sapiens glycine-N-acyltransferase (GLYAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	199					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TGAATGCAGCGCTCAATGAAT	0.502													62	78					0	0	0.870114	0	0	A	58477535	G	A	58477535	3	1	4	1	0	0	0	0	1	0	0	0	6479	1087	38	1	299	1	GLYAT	11	58477535	Missense_Mutation	SNP	G	TCGA-CS-4943-01A-01D-1468-08		58477535	76528981	21	148											
C2CD3	26005	broad.mit.edu	37	chr11	73829328	73829328	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgatcacttgactccagaaCcttagatgatctggcaagag	13	10	9	9	0	2	6	1	3	1	3	3	6	3	6	2	1	1	1	2	1	3	2			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr11:73829328C>G	uc001ouu.2	-	8	1692	c.1465G>C	c.(1465-1467)Gtt>Ctt	p.V489L	C2CD3_uc001ouv.2_Missense_Mutation_p.V489L	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	489						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GACTCCAGAACCTTAGATGAT	0.413													50	75					0	0	0.870114	0	0	G	73829328	C	G	73829328	3	3	4	1	0	0	0	0	1	0	0	0	2154	507	18	5	4518	5	C2CD3	11	73829328	Missense_Mutation	SNP	C	TCGA-CS-4943-01A-01D-1468-08	15351793	73829328	61177188	22	149											
ST14	6768	broad.mit.edu	37	chr11	130069892	130069892	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggctcgtgttgttgggggCacggatgcggatgagggcga	6	8	20	7	4	0	1	0	1	0	0	1	4	0	3	0	6	1	4	0	6	0	2			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr11:130069892C>T	uc001qfw.3	+	15	2047	c.1854C>T	c.(1852-1854)ggC>ggT	p.G618G		NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	618	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TTGTTGGGGGCACGGATGCGG	0.617													6	119					0	0	0.248553	0	0	T	130069892	C	T	130069892	2	4	4	1	0	0	0	0	0	0	0	1	15210	697	25	3		3	ST14	11	130069892	Silent	SNP	C	TCGA-CS-4943-01A-01D-1468-08	56240564	130069892	4936624	23	150											
HOXC13	3229	broad.mit.edu	37	chr12	54338833	54338833	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctaccggcgcgggcgcaaGaaacgcgtgccctacactaa	11	4	12	14	6	0	1	0	0	0	1	0	1	0	1	2	2	5	2	2	2	5	3			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr12:54338833G>A	uc001sei.3	+	1	901	c.786G>A	c.(784-786)aaG>aaA	p.K262K		NM_017410	NP_059106	P31276	HXC13_HUMAN	Homo sapiens homeobox C13 (HOXC13), mRNA.	262						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						GCGGGCGCAAGAAACGCGTGC	0.612			T	NUP98	AML								86	144					0	0	0.870114	0	0	A	54338833	G	A	54338833	2	1	4	1	0	0	0	0	0	0	0	1	7312	933	33	3		3	HOXC13	12	54338833	Silent	SNP	G	TCGA-CS-4943-01A-01D-1468-08		54338833	79513062	24	151											
TBC1D4	9882	broad.mit.edu	37	chr13	75873512	75873512	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcttgcggaagccgaggTcatacatgaggaatttcagc	11	9	12	9	2	2	1	2	1	0	0	2	4	2	3	1	3	5	1	1	3	3	3			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr13:75873512T>A	uc001vjl.1	-	16	3457	c.3110A>T	c.(3109-3111)gAc>gTc	p.D1037V	TBC1D4_uc010tht.1_Missense_Mutation_p.D247V|TBC1D4_uc010thu.1_Missense_Mutation_p.D194V|TBC1D4_uc010aer.2_Missense_Mutation_p.D1029V|TBC1D4_uc010aes.2_Missense_Mutation_p.D974V	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	1037	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GAAGCCGAGGTCATACATGAG	0.512													3	43					0	0	0.150653	0	0	A	75873512	T	A	75873512	3	1	4	1	0	0	0	0	1	0	0	0	15619	1667	58	5	806	5	TBC1D4	13	75873512	Missense_Mutation	SNP	T	TCGA-CS-4943-01A-01D-1468-08		75873512	39296366	25	152											
DOC2A	8448	broad.mit.edu	37	chr16	30018527	30018529	+	In_Frame_Del	DEL	CTT	CTT	-																															tcgaggcagatgttaaaatgCttcttctgcgaaggcttgag																								rs139431507	byFrequency	TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr16:30018527_30018529delCTT	uc002dvn.3	-	5	810_812	c.619_621delAAG	c.(619-621)aagdel	p.K207del	BOLA2_uc010bzb.1_Intron|DOC2A_uc010vef.2_Non-coding_Transcript|DOC2A_uc002dvo.3_In_Frame_Del_p.K207del|DOC2A_uc002dvp.3_In_Frame_Del_p.K207del|DOC2A_uc002dvq.3_In_Frame_Del_p.K207del	NM_003586	NP_003577	Q14183	DOC2A_HUMAN	Homo sapiens double C2-like domains, alpha (DOC2A), mRNA.	207					nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						TGTTAAAATGCTTCTTCTGCGAA	0.635													45	75	---	---	---	---						-	30018529	CTT	-	30018527	7	5	4	1	0	1	0	1	0	0	0	0	4683	796	28	0	605	0	DOC2A	16	30018527	In_Frame_Del	DEL	CTT	TCGA-CS-4943-01A-01D-1468-08		30018527	60336226	26	153											
PLCG2	5336	broad.mit.edu	37	chr16	81969947	81969947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttccgcctctggctgtgcGgttctcagatggtggcactc	3	12	12	14	2	2	1	1	0	2	1	5	1	3	1	3	4	1	3	3	4	0	2			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr16:81969947G>A	uc002fgt.3	+	26	3194	c.3016G>A	c.(3016-3018)Ggt>Agt	p.G1006S		NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	1006	PI-PLC Y-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CTGGCTGTGCGGTTCTCAGAT	0.572													51	55					0	0	0.870114	0	0	A	81969947	G	A	81969947	3	1	4	1	0	0	0	0	1	0	0	0	12036	1116	39	2	3118	2	PLCG2	16	81969947	Missense_Mutation	SNP	G	TCGA-CS-4943-01A-01D-1468-08	51951420	81969947	8384806	27	154											
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	7	9	12	13	2	1	0	1	0	0	0	2	2	2	1	4	3	4	3	4	3	2	2	rs28934575		TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr17:7577548C>T	uc002gim.2	-	6	927	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.3_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S|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.	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(600)|p.G245C(110)|p.G245D(99)|p.G245V(58)|p.G244D(42)|p.G244C(37)|p.G244S(37)|p.G245R(20)|p.G244V(14)|p.G244G(13)|p.G244A(9)|p.G245A(8)|p.G152S(8)|p.0?(8)|p.G245fs*2(5)|p.G244fs*3(5)|p.?(5)|p.G245N(4)|p.G244_M246>V(4)|p.G152C(4)|p.G244R(4)|p.G245G(3)|p.G245H(2)|p.G245L(2)|p.G244fs*17(2)|p.G245F(2)|p.C242_M246>L(2)|p.C238_M246delCNSSCMGGM(2)|p.G245fs*22(2)|p.S241_G245delSCMGG(2)|p.G245del(2)|p.G245fs*14(2)|p.G245fs*17(2)|p.G245fs*16(2)|p.G244_M246del(1)|p.G245E(1)|p.G244fs*4(1)|p.G244fs*19(1)|p.C242fs*98(1)|p.G244del(1)|p.M243fs*18(1)|p.M243_G244>IC(1)|p.G244E(1)|p.G151_M153>V(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)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)			4	90					0	0	0.150653	0	0	T	7577548	C	T	7577548	3	4	4	1	0	0	0	0	1	0	0	0	16378	652	23	2	557	2	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-CS-4943-01A-01D-1468-08		7577548	73617662	28	155											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	11	6	9	15	1	2	1	2	0	0	1	2	1	2	1	4	3	0	2	4	3	2	2	rs121912666		TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr17:7578190T>C	uc002gim.2	-	5	853	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.3_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.2_Missense_Mutation_p.Y181C|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(516)|p.Y127C(24)|p.Y220S(22)|p.Y220N(12)|p.Y220H(11)|p.?(11)|p.0?(8)|p.P219S(4)|p.P219P(4)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(3)|p.P219L(3)|p.Y220_P223delYEPP(2)|p.V218_Y220delVPY(2)|p.V216_Y220delVVVPY(2)|p.P219T(2)|p.Y220fs*25(2)|p.V218_E221delVPYE(2)|p.Y220fs*2(2)|p.V218_E224delVPYEPPE(2)|p.K164_P219del(1)|p.Y220L(1)|p.Y220fs*1(1)|p.Y127S(1)|p.V218_P219insX(1)|p.D208fs*1(1)|p.P219R(1)|p.P219C(1)|p.P219H(1)|p.V218fs*26(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)		AGGCGGCTCATAGGGCACCAC	0.557		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)			45	8					0	0	0.870114	0	0	C	7578190	T	C	7578190	3	2	4	1	0	0	0	0	1	0	0	0	16378	1406	49	3	635	3	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-CS-4943-01A-01D-1468-08	642	7578190	73617020	29	156											
DDX5	1655	broad.mit.edu	37	chr17	62498302	62498302	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttagaacccagtcacgctcTtgttgactcttgtcaccatg	8	14	7	12	1	4	2	2	1	2	1	4	2	4	2	2	0	1	2	2	0	2	5			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr17:62498302T>G	uc010deh.2	-	9	1177	c.1134A>C	c.(1132-1134)caA>caC	p.Q378H	DDX5_uc002jek.2_Missense_Mutation_p.Q378H|DDX5_uc002jej.2_Missense_Mutation_p.Q273H|DDX5_uc010wqa.1_Missense_Mutation_p.Q299H|MIR3064_uc021ubr.1_5'Flank|MIR5047_uc021ubs.1_5'Flank	NM_004396	NP_004387	P17844	DDX5_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.	378	Helicase C-terminal.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|mRNA binding|protein binding|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			AGTCACGCTCTTGTTGACTCT	0.378			T	ETV4	prostate								10	51					0	0	0.435327	0	0	G	62498302	T	G	62498302	3	3	4	1	0	0	0	0	1	0	0	0	4367	1606	56	5	726	5	DDX5	17	62498302	Missense_Mutation	SNP	T	TCGA-CS-4943-01A-01D-1468-08	54920112	62498302	18696908	30	157											
RYR1	6261	broad.mit.edu	37	chr19	39070725	39070725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgccatgggggtcaagaCgctgcgcaccatcctgtcct	7	8	11	15	3	1	1	1	0	0	1	4	1	3	1	4	2	1	2	4	2	1	0	rs148540135		TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr19:39070725C>T	uc002oit.3	+	99	14598	c.14468C>T	c.(14467-14469)aCg>aTg	p.T4823M	RYR1_uc002oiu.3_Missense_Mutation_p.T4818M	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4823					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGGGTCAAGACGCTGCGCACC	0.597													43	52					0	0	0.859065	0	0	T	39070725	C	T	39070725	3	4	4	1	0	0	0	0	1	0	0	0	13768	536	19	1	14866	1	RYR1	19	39070725	Missense_Mutation	SNP	C	TCGA-CS-4943-01A-01D-1468-08		39070725	20058258	31	158											
RYR1	6261	broad.mit.edu	37	chr19	39071043	39071043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggccttctggcggtggtcGtctacctgtacaccgtggtg	3	12	15	11	3	2	0	0	0	2	0	3	0	2	0	3	5	2	1	3	5	2	3	rs118192168		TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr19:39071043G>T	uc002oit.3	+	100	14675	c.14545G>T	c.(14545-14547)Gtc>Ttc	p.V4849F	RYR1_uc002oiu.3_Missense_Mutation_p.V4844F	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4849			V -> I (in MHS1 and CCD; autosomal recessive form).		muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGCGGTGGTCGTCTACCTGTA	0.602													22	25					6.44725e-10	6.89969e-10	0.624587	1	0	T	39071043	G	T	39071043	3	4	4	1	0	0	0	0	1	0	0	0	13768	1145	40	5	14947	5	RYR1	19	39071043	Missense_Mutation	SNP	G	TCGA-CS-4943-01A-01D-1468-08	318	39071043	20057940	32	159											
SULF2	55959	broad.mit.edu	37	chr20	46291893	46291893	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaggaaattgtgagtctcaTtgatggtcctcatgcaccag	11	11	11	8	0	2	3	2	2	1	1	4	4	3	4	2	2	1	1	2	2	1	2	rs145371797		TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr20:46291893T>C	uc002xto.3	-	16	2621	c.2291A>G	c.(2290-2292)aAt>aGt	p.N764S	SULF2_uc002xtr.3_Missense_Mutation_p.N764S|SULF2_uc002xtq.3_Missense_Mutation_p.N764S|SULF2_uc010zyd.2_Missense_Mutation_p.N43S	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	764					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GTGAGTCTCATTGATGGTCCT	0.517											OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	102					0	0	0.184627	0	0	C	46291893	T	C	46291893	3	2	4	1	0	0	0	0	1	0	0	0	15370	1493	52	3	341	3	SULF2	20	46291893	Missense_Mutation	SNP	T	TCGA-CS-4943-01A-01D-1468-08		46291893	16733627	33	160											
USP25	29761	broad.mit.edu	37	chr21	17238647	17238647	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gataaaacctgaagaagtaaActtggaggaatatgaggtaa	19	8	11	3	0	0	3	0	2	0	1	0	6	0	5	1	3	2	2	1	3	9	5			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr21:17238647A>G	uc011aby.1	+	21	3006	c.2789A>G	c.(2788-2790)aAc>aGc	p.N930S	USP25_uc002yjz.1_Missense_Mutation_p.N892S|USP25_uc010gla.1_Intron|USP25_uc002yjy.1_Missense_Mutation_p.N860S	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	Homo sapiens ubiquitin specific peptidase 25 (USP25), mRNA.	860					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GAAGAAGTAAACTTGGAGGAA	0.358													16	51					0	0	0.539581	0	0	G	17238647	A	G	17238647	3	3	4	1	0	0	0	0	1	0	0	0	17053	43	2	3	2657	3	USP25	21	17238647	Missense_Mutation	SNP	A	TCGA-CS-4943-01A-01D-1468-08		17238647	30891248	34	161											
RTDR1	27156	broad.mit.edu	37	chr22	23404005	23404005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttcagtgatcactgtggCgaacatcagggcaccggcag	10	7	12	12	2	3	1	3	1	0	0	3	2	3	1	2	3	1	2	2	3	1	1			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr22:23404005C>T	uc002zwt.3	-	5	930	c.772G>A	c.(772-774)Gcc>Acc	p.A258T		NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN	Homo sapiens rhabdoid tumor deletion region gene 1 (RTDR1), mRNA.	258							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		ATCACTGTGGCGAACATCAGG	0.587													12	24					0	0	0.435327	0	0	T	23404005	C	T	23404005	3	4	4	1	0	0	0	0	1	0	0	0	13719	768	27	1	282	1	RTDR1	22	23404005	Missense_Mutation	SNP	C	TCGA-CS-4943-01A-01D-1468-08		23404005	27900561	35	162											
FBXO7	25793	broad.mit.edu	37	chr22	32879927	32879927	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctgagtcaattcaagataAtgcgcatatggcagagggca	14	8	12	7	1	2	3	2	1	0	2	2	3	2	3	0	2	2	4	0	2	4	3			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr22:32879927A>G	uc003amq.3	+	2	744	c.461A>G	c.(460-462)aAt>aGt	p.N154S	FBXO7_uc003amp.1_Missense_Mutation_p.N40S|FBXO7_uc003amt.3_Missense_Mutation_p.N75S|FBXO7_uc003amu.3_Missense_Mutation_p.N40S	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN	Homo sapiens F-box protein 7 (FBXO7), transcript variant 1, mRNA.	154					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATTCAAGATAATGCGCATATG	0.383													26	47					0	0	0.681144	0	0	G	32879927	A	G	32879927	3	3	4	1	0	0	0	0	1	0	0	0	5760	101	4	3	512	3	FBXO7	22	32879927	Missense_Mutation	SNP	A	TCGA-CS-4943-01A-01D-1468-08	9475922	32879927	18424639	36	163											
ATRX	546	broad.mit.edu	37	chrX	76829760	76829760	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcagcccacttcttccttGactgtgcagtagtggaacca	8	12	8	13	0	2	1	1	1	1	0	3	2	3	2	3	1	3	2	3	1	2	5			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chrX:76829760G>C	uc004ecp.4	-	27	6513	c.6281C>G	c.(6280-6282)tCa>tGa	p.S2094*	ATRX_uc004ecq.4_Nonsense_Mutation_p.S2056*|ATRX_uc004eco.4_Nonsense_Mutation_p.S1879*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2094	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTTCTTCCTTGACTGTGCAGT	0.313			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						69	12					0	0	0.870114	0	0	C	76829760	G	C	76829760	4	2	4	1	0	0	0	0	0	1	0	0	1208	1294	45	5	1229	5	ATRX	23	76829760	Nonsense_Mutation	SNP	G	TCGA-CS-4943-01A-01D-1468-08		76829760	78440800	37	164											
ATRX	546	broad.mit.edu	37	chrX	76938044	76938044	+	Frame_Shift_Del	DEL	T	T	-																															aagtcgatctcttaattccaTgatggtcgtgtctttatcaa																										TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chrX:76938044delT	uc004ecp.4	-	8	2936	c.2704delA	c.(2704-2706)atgfs	p.M902fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.M864fs|ATRX_uc004eco.4_Frame_Shift_Del_p.M687fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.M834fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.M873fs|ATRX_uc010nly.1_Frame_Shift_Del_p.M847fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	902					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTTAATTCCATGATGGTCGTG	0.428			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						7	207	---	---	---	---						-	76938044	T	-	76938044	7	5	4	1	0	1	0	1	0	0	0	0	1208	1464	51	0	4882	0	ATRX	23	76938044	Frame_Shift_Del	DEL	T	TCGA-CS-4943-01A-01D-1468-08	108284	76938044	78332516	38	165											
PCDH11Y	83259	broad.mit.edu	37	chrY	5369105	5369105	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctccctttcagtcccagcGgcgtgtcacatttcacctgc	5	13	7	16	2	4	0	3	0	1	0	6	0	5	0	3	1	2	0	3	1	0	3			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chrY:5369105G>T	uc004fqo.3	+	2	3871	c.3137G>T	c.(3136-3138)cGg>cTg	p.R1046L		NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	1046					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CAGTCCCAGCGGCGTGTCACA	0.473													3	59					0.00909568	0.00940401	0.150653	1	0	T	5369105	G	T	5369105	3	4	4	1	0	0	0	0	1	0	0	0	11509	1116	39	5	3205	5	PCDH11Y	24	5369105	Missense_Mutation	SNP	G	TCGA-CS-4943-01A-01D-1468-08		5369105	54004461	39	166											
CDC42BPA	8476	broad.mit.edu	37	chr1	227348328	227348328	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccatcagtatattgtcaggTttaatgtctctgaaaaaata	14	15	6	6	0	3	1	2	1	1	0	5	1	4	1	1	1	0	2	1	1	7	6			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr1:227348328T>C	uc001hqr.3	-	5	1552	c.609A>G	c.(607-609)aaA>aaG	p.K203K	CDC42BPA_uc001hqs.3_Silent_p.K203K|CDC42BPA_uc009xes.3_Silent_p.K203K|CDC42BPA_uc010pvs.2_Silent_p.K203K	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN	Homo sapiens CDC42 binding protein kinase alpha (DMPK-like) (CDC42BPA), transcript variant B, mRNA.	203	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TATTGTCAGGTTTAATGTCTC	0.284													50	99					0	0	0.870114	0	0	C	227348328	T	C	227348328	2	2	5	1	0	0	0	0	0	0	0	1	3072	1722	60	3		3	CDC42BPA	1	227348328	Silent	SNP	T	TCGA-CS-4944-01A-01D-1468-08		227348328	21902293	1	167											
OR14A16	284532	broad.mit.edu	37	chr1	247978653	247978653	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatgacatcatagtgcagagGgtgacatatagcagtatagc	14	9	12	6	0	1	3	1	2	0	1	1	4	1	3	0	1	3	3	0	1	5	5			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr1:247978653G>T	uc001idm.1	-	0	379	c.379C>A	c.(379-381)Cct>Act	p.P127T		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TAGTGCAGAGGGTGACATATA	0.512													55	126					1.14385e-22	1.32934e-22	0.870114	1	0	T	247978653	G	T	247978653	3	4	5	1	0	0	0	0	1	0	0	0	10945	1232	43	5	554	5	OR14A16	1	247978653	Missense_Mutation	SNP	G	TCGA-CS-4944-01A-01D-1468-08	20630325	247978653	1271968	2	168											
FAM179A	165186	broad.mit.edu	37	chr2	29247207	29247207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagaatgtgacccttgcccGctccctggtggtcctcacct	5	10	11	15	1	1	2	1	1	0	1	3	3	3	2	5	3	1	1	5	3	1	1			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr2:29247207G>A	uc010ezl.3	+	12	2171	c.1820G>A	c.(1819-1821)cGc>cAc	p.R607H	FAM179A_uc010ymm.2_Missense_Mutation_p.R552H|FAM179A_uc002rmr.4_Missense_Mutation_p.R134H	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	607							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACCCTTGCCCGCTCCCTGGTG	0.627													5	19					0	0	0.217242	0	0	A	29247207	G	A	29247207	3	1	5	1	0	0	0	0	1	0	0	0	5505	1087	38	1	1866	1	FAM179A	2	29247207	Missense_Mutation	SNP	G	TCGA-CS-4944-01A-01D-1468-08		29247207	213952166	3	169											
WDR75	84128	broad.mit.edu	37	chr2	190313123	190313123	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtatatcttctgtgtctcTggagactttgttaaagttta	9	18	9	5	0	3	1	0	0	3	1	4	2	3	1	0	2	0	3	0	2	5	7			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr2:190313123T>C	uc002uql.1	+	1	165	c.105T>C	c.(103-105)tcT>tcC	p.S35S	WDR75_uc002uqm.1_5'UTR|WDR75_uc002uqn.1_5'UTR	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	Homo sapiens WD repeat domain 75 (WDR75), mRNA.	35						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TCTGTGTCTCTGGAGACTTTG	0.368													33	55					0	0	0.769981	0	0	C	190313123	T	C	190313123	2	2	5	1	0	0	0	0	0	0	0	1	17322	1567	55	4		4	WDR75	2	190313123	Silent	SNP	T	TCGA-CS-4944-01A-01D-1468-08	161065916	190313123	52886250	4	170											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								28	63					0	0	0.729181	0	0	T	209113112	C	T	209113112	3	4	5	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CS-4944-01A-01D-1468-08	18799989	209113112	34086261	5	171											
COL6A3	1293	broad.mit.edu	37	chr2	238280668	238280668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgggacgccctcttcaatgCggctccccaggggcctcttg	4	8	13	16	3	3	0	1	0	2	0	4	1	4	1	4	4	1	1	4	4	1	2			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr2:238280668C>T	uc002vwl.2	-	8	4277	c.3992G>A	c.(3991-3993)cGc>cAc	p.R1331H	COL6A3_uc002vwo.2_Missense_Mutation_p.R1125H|COL6A3_uc010znj.1_Missense_Mutation_p.R724H|COL6A3_uc002vwq.3_Missense_Mutation_p.R1125H|COL6A3_uc002vwr.3_Missense_Mutation_p.R924H	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1331	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTCTTCAATGCGGCTCCCCAG	0.632													28	39					0	0	0.693898	0	0	T	238280668	C	T	238280668	3	4	5	1	0	0	0	0	1	0	0	0	3701	768	27	1	5732	1	COL6A3	2	238280668	Missense_Mutation	SNP	C	TCGA-CS-4944-01A-01D-1468-08	29167556	238280668	4918705	6	172											
KIF9	64147	broad.mit.edu	37	chr3	47312946	47312946	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggcgttcttcgatcatcctAaaaacctagatgacagattg	12	11	9	9	2	2	3	1	1	1	2	4	4	3	3	2	1	1	1	2	1	4	5			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr3:47312946A>G	uc010hjp.3	-	5	976	c.372T>C	c.(370-372)ttT>ttC	p.F124F	KIF9_uc003cqx.3_Silent_p.F124F|KIF9_uc003cqy.3_Silent_p.F124F|KIF9_uc011bat.1_Non-coding_Transcript|KIF9_uc011bau.1_Non-coding_Transcript	NM_001134878	NP_878905	Q9HAQ2	KIF9_HUMAN	Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA.	124	Kinesin-motor.				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CGATCATCCTAAAAACCTAGA	0.483													3	114					0	0	0.150653	0	0	G	47312946	A	G	47312946	2	3	5	1	0	0	0	0	0	0	0	1	8310	359	13	3		3	KIF9	3	47312946	Silent	SNP	A	TCGA-CS-4944-01A-01D-1468-08		47312946	150709484	7	173											
PDHB	5162	broad.mit.edu	37	chr3	58413838	58413838	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgtcctctagaatctttgCataaggcatagggacatcag	11	12	10	8	0	3	1	1	0	2	1	4	2	4	2	1	2	1	3	1	2	4	5			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr3:58413838C>A	uc003dkf.4	-	9	1046	c.1003G>T	c.(1003-1005)Gca>Tca	p.A335S	PDHB_uc003dke.4_Missense_Mutation_p.A293S|PDHB_uc011bff.2_Missense_Mutation_p.A317S|PDHB_uc003dkg.4_Missense_Mutation_p.A317S	NM_000925	NP_000916	P11177	ODPB_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) beta (PDHB), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	335					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	9				BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187)	NADH(DB00157)|Pyruvic acid(DB00119)	AGAATCTTTGCATAAGGCATA	0.418													3	71					0.115264	0.120887	0.115264	1	0	A	58413838	C	A	58413838	3	1	5	1	0	0	0	0	1	0	0	0	11666	710	25	5	80	5	PDHB	3	58413838	Missense_Mutation	SNP	C	TCGA-CS-4944-01A-01D-1468-08	11100892	58413838	139608592	8	174											
SLC25A36	55186	broad.mit.edu	37	chr3	140682063	140682063	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacatatgatttcagctgcaAtggcaggtatgaatgtataa	14	13	9	5	0	1	2	1	2	0	0	1	2	1	2	0	2	3	5	0	2	7	6			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr3:140682063A>G	uc003etr.2	+	3	614	c.379A>G	c.(379-381)Atg>Gtg	p.M127V	SLC25A36_uc003etp.3_Missense_Mutation_p.M127V|SLC25A36_uc003ets.2_Missense_Mutation_p.M127V|SLC25A36_uc003etq.2_5'UTR|SLC25A36_uc011bmz.1_Missense_Mutation_p.M101V	NM_001104647	NP_001098117	Q96CQ1	S2536_HUMAN	Homo sapiens solute carrier family 25, member 36 (SLC25A36), transcript variant 1, mRNA.	127					response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						TTCAGCTGCAATGGCAGGTAT	0.289													45	85					0	0	0.840704	0	0	G	140682063	A	G	140682063	3	3	5	1	0	0	0	0	1	0	0	0	14500	101	4	3	393	3	SLC25A36	3	140682063	Missense_Mutation	SNP	A	TCGA-CS-4944-01A-01D-1468-08	82268225	140682063	57340367	9	175											
UGT2A3	79799	broad.mit.edu	37	chr4	69795535	69795535	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaatttggaaagatctatTccctcttttctatctttcta	9	20	4	8	0	5	2	0	1	5	1	6	3	6	3	1	1	0	0	1	1	5	9			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr4:69795535T>C	uc003hef.2	-	5	1611	c.1580A>G	c.(1579-1581)gAa>gGa	p.E527G	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	527						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAAGATCTATTCCCTCTTTTC	0.328													35	67					0	0	0.779181	0	0	C	69795535	T	C	69795535	3	2	5	1	0	0	0	0	1	0	0	0	16952	1783	62	3	7	3	UGT2A3	4	69795535	Missense_Mutation	SNP	T	TCGA-CS-4944-01A-01D-1468-08		69795535	121358741	10	176											
PIK3R1	5295	broad.mit.edu	37	chr5	67522794	67522795	+	Frame_Shift_Ins	INS	-	-	G																															cacctcggcctcttcctgttINSgcaccaggttcttcgaaaac																										TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr5:67522794_67522795insG	uc003jva.3	+	1	871_872	c.291_292insG	c.(289-294)gttgcafs	p.V97fs		NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	97					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CTCTTCCTGTTGCACCAGGTTC	0.455			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			36	98	---	---	---	---						G	67522795	-	G	67522794	7	5	5	1	0	1	1	0	0	0	0	0	11918	1799	63	0	293	0	PIK3R1	5	67522794	Frame_Shift_Ins	INS	-	TCGA-CS-4944-01A-01D-1468-08		67522794	113392466	11	177											
ZNF12	7559	broad.mit.edu	37	chr7	6737039	6737039	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccttgctccaacttgctgaTaacatccggtttgataatgt	9	15	7	10	1	0	2	0	2	0	0	3	2	3	2	3	1	4	3	3	1	3	5			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr7:6737039T>A	uc003sqt.1	-	3	723	c.169A>T	c.(169-171)Atc>Ttc	p.I57F	ZNF12_uc011jxa.1_5'UTR|ZNF12_uc003sqs.1_Missense_Mutation_p.I57F	NM_016265	NP_057349	P17014	ZNF12_HUMAN	Homo sapiens zinc finger protein 12 (ZNF12), transcript variant 1, mRNA.	57	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		AACTTGCTGATAACATCCGGT	0.463													10	14					0	0	0.435327	0	0	A	6737039	T	A	6737039	3	1	5	1	0	0	0	0	1	0	0	0	17715	1406	49	5	1932	5	ZNF12	7	6737039	Missense_Mutation	SNP	T	TCGA-CS-4944-01A-01D-1468-08		6737039	152401624	12	178											
DLX5	1749	broad.mit.edu	37	chr7	96651642	96651642	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacgaactttctttggtttgCcattcaccattctcacctcg	7	16	5	13	2	3	0	2	0	2	0	5	1	3	0	3	1	3	1	3	1	2	6			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr7:96651642C>A	uc003uon.3	-	1	603	c.395G>T	c.(394-396)gGc>gTc	p.G132V	DLX5_uc011kim.1_Missense_Mutation_p.G132V	NM_005221	NP_005212	P56178	DLX5_HUMAN	Homo sapiens distal-less homeobox 5 (DLX5), mRNA.	132					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CTTTGGTTTGCCATTCACCAT	0.463													53	89					7.91745e-34	9.72715e-34	0.870114	1	0	A	96651642	C	A	96651642	3	1	5	1	0	0	0	0	1	0	0	0	4574	739	26	5	482	5	DLX5	7	96651642	Missense_Mutation	SNP	C	TCGA-CS-4944-01A-01D-1468-08	89914603	96651642	62487021	13	179											
FAM83H	286077	broad.mit.edu	37	chr8	144808629	144808629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccctggcccagtgacagaCgccgcgggctctcgggttgg	5	6	15	15	4	1	2	0	1	1	1	2	2	1	2	3	4	0	2	3	4	0	1			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr8:144808629C>T	uc003yzk.3	-	4	3071	c.3002G>A	c.(3001-3003)cGt>cAt	p.R1001H		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	1001					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGTGACAGACGCCGCGGGCT	0.697													6	8					0	0	0.248553	0	0	T	144808629	C	T	144808629	3	4	5	1	0	0	0	0	1	0	0	0	5640	536	19	1	541	1	FAM83H	8	144808629	Missense_Mutation	SNP	C	TCGA-CS-4944-01A-01D-1468-08		144808629	1555393	14	180											
KDM4C	23081	broad.mit.edu	37	chr9	7128074	7128075	+	Frame_Shift_Del	DEL	GG	GG	-																															cccttcttttagaagtccaaGgcttgcgagaaggtcatttc																										TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr9:7128074_7128075delGG	uc003zkh.3	+	18	3199_3200	c.2619_2620delGG	c.(2617-2622)aaggctfs	p.K873fs	KDM4C_uc011lmj.1_Non-coding_Transcript|KDM4C_uc003zkg.3_Frame_Shift_Del_p.K873fs|KDM4C_uc011lmk.2_Frame_Shift_Del_p.K618fs|KDM4C_uc011lml.2_Frame_Shift_Del_p.K560fs	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	Homo sapiens lysine (K)-specific demethylase 4C (KDM4C), transcript variant 1, mRNA.	873					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AGAAGTCCAAGGCTTGCGAGAA	0.411													34	79	---	---	---	---						-	7128075	GG	-	7128074	7	5	5	1	0	1	0	1	0	0	0	0	8130	991	35	0	2781	0	KDM4C	9	7128074	Frame_Shift_Del	DEL	GG	TCGA-CS-4944-01A-01D-1468-08		7128074	134085357	15	181											
SFMBT2	57713	broad.mit.edu	37	chr10	7214050	7214050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtccgtctggtcatccCggagctcggagccggtctcc	4	9	14	14	4	3	0	1	0	2	0	7	2	5	2	4	5	2	1	4	5	0	0			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr10:7214050C>T	uc009xio.2	-	18	2313	c.2222G>A	c.(2221-2223)cGg>cAg	p.R741Q	SFMBT2_uc001ijn.2_Missense_Mutation_p.R741Q|SFMBT2_uc010qay.2_Missense_Mutation_p.R576Q	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	741					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CTGGTCATCCCGGAGCTCGGA	0.692													9	16					0	0	0.38729	0	0	T	7214050	C	T	7214050	3	4	5	1	0	0	0	0	1	0	0	0	14158	652	23	2	474	2	SFMBT2	10	7214050	Missense_Mutation	SNP	C	TCGA-CS-4944-01A-01D-1468-08		7214050	128320697	16	182											
KIF20B	9585	broad.mit.edu	37	chr10	91477448	91477448	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattgactctgggaaagtgtAttaacgtcttgaagaatagt	13	14	10	4	1	2	3	0	2	2	1	2	4	2	4	0	1	1	1	0	1	7	6			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr10:91477448A>G	uc001kgs.1	+	10	1312	c.1240A>G	c.(1240-1242)Att>Gtt	p.I414V	KIF20B_uc001kgr.1_Missense_Mutation_p.I414V	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	414					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|WW domain binding|microtubule motor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GGGAAAGTGTATTAACGTCTT	0.313													6	194					0	0	0.217242	0	0	G	91477448	A	G	91477448	3	3	5	1	0	0	0	0	1	0	0	0	8287	449	16	3	1278	3	KIF20B	10	91477448	Missense_Mutation	SNP	A	TCGA-CS-4944-01A-01D-1468-08	84263398	91477448	44057299	17	183											
C10orf12	26148	broad.mit.edu	37	chr10	98709000	98709000	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcatggctgaccaagaCtcacctctggaccttactgt	8	12	7	14	0	3	2	2	1	2	1	4	3	3	3	3	2	1	1	3	2	2	2			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr10:98709000C>G	uc001kmu.2	+	5	749	c.186C>G	c.(184-186)gaC>gaG	p.D62E	C10orf12_uc001kmr.3_Missense_Mutation_p.D62E|C10orf12_uc001kms.2_Missense_Mutation_p.D62E|C10orf12_uc009xvg.2_Missense_Mutation_p.D62E	NM_032440	NP_115816	Q8N655	CJ012_HUMAN	Homo sapiens ligand dependent nuclear receptor corepressor (LCOR), transcript variant 1, mRNA.	267										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CTGACCAAGACTCACCTCTGG	0.483													77	125					0	0	0.870114	0	0	G	98709000	C	G	98709000	3	3	5	1	0	0	0	0	1	0	0	0	1589	564	20	5		5	C10orf12	10	98709000	Missense_Mutation	SNP	C	TCGA-CS-4944-01A-01D-1468-08	7231552	98709000	36825747	18	184											
PTPN5	84867	broad.mit.edu	37	chr11	18754164	18754164	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggagatgagtcgcagccggTaatcctccgtgtgaatgact	9	9	14	9	3	0	4	0	3	0	1	3	5	2	4	3	2	1	2	3	2	2	1			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr11:18754164T>C	uc001mpd.3	-	11	1735	c.1304A>G	c.(1303-1305)tAc>tGc	p.Y435C	PTPN5_uc001mpb.3_Missense_Mutation_p.Y403C|PTPN5_uc001mpc.3_Missense_Mutation_p.Y435C|PTPN5_uc010rdj.2_Missense_Mutation_p.Y379C|PTPN5_uc001mpf.3_Missense_Mutation_p.Y411C|PTPN5_uc001mpe.3_Missense_Mutation_p.Y403C|PTPN5_uc010rdk.2_Missense_Mutation_p.Y380C	NM_006906	NP_116170	P54829	PTN5_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched) (PTPN5), transcript variant 1, mRNA.	435	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						TCGCAGCCGGTAATCCTCCGT	0.592											OREG0020824	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	258					0	0	0.27861	0	0	C	18754164	T	C	18754164	3	2	5	1	0	0	0	0	1	0	0	0	12791	1638	57	3	409	3	PTPN5	11	18754164	Missense_Mutation	SNP	T	TCGA-CS-4944-01A-01D-1468-08		18754164	116252352	19	185											
CLIP1	6249	broad.mit.edu	37	chr12	122758652	122758652	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacatcatctccaccttcaTcttgaggtcttgattcttcc	7	16	5	13	0	6	3	2	3	4	0	8	3	7	3	3	1	0	0	3	1	0	5			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr12:122758652T>C	uc001ucg.2	-	24	4179	c.4024A>G	c.(4024-4026)Atg>Gtg	p.M1342V	CLIP1_uc001uch.1_Missense_Mutation_p.M1331V|CLIP1_uc001uci.1_Missense_Mutation_p.M1296V|CLIP1_uc001ucf.1_Missense_Mutation_p.M1V	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	1342					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TCCACCTTCATCTTGAGGTCT	0.343													127	197					0	0	0.870114	0	0	C	122758652	T	C	122758652	3	2	5	1	0	0	0	0	1	0	0	0	3532	1435	50	3	300	3	CLIP1	12	122758652	Missense_Mutation	SNP	T	TCGA-CS-4944-01A-01D-1468-08		122758652	11093243	20	186											
SMOC1	64093	broad.mit.edu	37	chr14	70490099	70490099	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtttcaccgactactgtgAcctgaacaaagacaaggtca	13	8	9	11	2	2	3	2	2	0	1	2	4	2	3	2	1	2	1	2	1	4	2			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr14:70490099A>T	uc001xlt.2	+	10	1508	c.1226A>T	c.(1225-1227)gAc>gTc	p.D409V	SMOC1_uc001xls.2_Missense_Mutation_p.D409V	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	409	EF-hand 2.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		GACTACTGTGACCTGAACAAA	0.522													5	176					0	0	0.184627	0	0	T	70490099	A	T	70490099	3	4	5	1	0	0	0	0	1	0	0	0	14801	275	10	5	1268	5	SMOC1	14	70490099	Missense_Mutation	SNP	A	TCGA-CS-4944-01A-01D-1468-08		70490099	36859441	21	187											
TSHR	7253	broad.mit.edu	37	chr14	81610525	81610525	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaggctcaggcataccgggGgcagagggttcctccaaaga	10	5	14	12	1	1	2	1	0	0	2	3	2	3	2	4	5	1	4	4	5	2	2			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr14:81610525G>T	uc001xvd.1	+	9	2279	c.2123G>T	c.(2122-2124)gGg>gTg	p.G708V		NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	708					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.R707W(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GCATACCGGGGGCAGAGGGTT	0.498			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						58	113					1.20869e-33	1.44372e-33	0.870114	1	0	T	81610525	G	T	81610525	3	4	5	1	0	0	0	0	1	0	0	0	16619	1232	43	5	2298	5	TSHR	14	81610525	Missense_Mutation	SNP	G	TCGA-CS-4944-01A-01D-1468-08	11120426	81610525	25739015	22	188											
GABRG3	2567	broad.mit.edu	37	chr15	27574011	27574011	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttccccatggacgaacacTcctgcccgctgattttctcc	7	11	6	17	2	1	1	0	1	1	0	4	3	3	2	5	1	2	1	5	1	1	3			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr15:27574011T>C	uc001zbg.2	+	4	804	c.550T>C	c.(550-552)Tcc>Ccc	p.S184P	GABRG3_uc001zbf.3_Missense_Mutation_p.S184P	NM_033223	NP_150092	Q99928	GBRG3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 3 (GABRG3), mRNA.	184					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		GGACGAACACTCCTGCCCGCT	0.557													14	31					0	0	0.457914	0	0	C	27574011	T	C	27574011	3	2	5	1	0	0	0	0	1	0	0	0	6173	1551	54	4	568	4	GABRG3	15	27574011	Missense_Mutation	SNP	T	TCGA-CS-4944-01A-01D-1468-08		27574011	74957381	23	189											
HPR	3250	broad.mit.edu	37	chr16	72110680	72110680	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctgtggctgaccaataCgattgcataacgcattatga	11	11	9	10	2	0	2	0	2	0	0	0	3	0	2	2	1	4	3	2	1	4	4			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr16:72110680C>T	uc002fby.3	+	4	777	c.747C>T	c.(745-747)taC>taT	p.Y249Y	TXNL4B_uc010cgl.2_Intron	NM_020995	NP_066275	P00739	HPTR_HUMAN	Homo sapiens haptoglobin-related protein (HPR), mRNA.	249	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				CTGACCAATACGATTGCATAA	0.507													35	67					0	0	0.769981	0	0	T	72110680	C	T	72110680	2	4	5	1	0	0	0	0	0	0	0	1	7337	547	19	1		1	HPR	16	72110680	Silent	SNP	C	TCGA-CS-4944-01A-01D-1468-08		72110680	18244073	24	190											
DMKN	93099	broad.mit.edu	37	chr19	36002345	36002345	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgccgctgtcacctctgcTgccaccactgttgccactgc	5	10	8	18	1	2	0	1	0	1	0	2	0	2	0	5	0	5	3	5	0	0	1			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr19:36002345T>C	uc002nzm.4	-	4	1069	c.886A>G	c.(886-888)Agc>Ggc	p.S296G	DMKN_uc002nzj.3_5'Flank|DMKN_uc002nzl.4_5'Flank|DMKN_uc002nzk.4_5'Flank|DMKN_uc002nzo.4_Intron|DMKN_uc002nzn.4_Intron|DMKN_uc002nzu.2_5'Flank|DMKN_uc002nzv.2_5'Flank|DMKN_uc002nzw.2_5'Flank|DMKN_uc002nzq.2_5'Flank|DMKN_uc002nzp.2_5'Flank|DMKN_uc002nzr.2_5'Flank|DMKN_uc002nzs.2_5'Flank|DMKN_uc002nzt.2_5'Flank|DMKN_uc010xsw.2_5'Flank|DMKN_uc010xsv.1_5'Flank|DMKN_uc002nzx.4_5'Flank|DMKN_uc002nzy.4_5'Flank|DMKN_uc002nzz.3_Missense_Mutation_p.S296G|DMKN_uc002oaa.4_Missense_Mutation_p.S296G|DMKN_uc002oab.4_Missense_Mutation_p.S296G|DMKN_uc002oac.4_Missense_Mutation_p.S296G	NM_033317	NP_201574	Q6E0U4	DMKN_HUMAN	Homo sapiens dermokine (DMKN), transcript variant 2, mRNA.	296	Gly-rich.					extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCACCTctgctgccaccactg	0.647													6	4					0	0	0.411799	0	0	C	36002345	T	C	36002345	3	2	5	1	0	0	0	0	1	0	0	0	4582	1580	55	4	909	4	DMKN	19	36002345	Missense_Mutation	SNP	T	TCGA-CS-4944-01A-01D-1468-08		36002345	23126638	25	191											
MLL2	8085	broad.mit.edu	37	chr19	36218411	36218411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggaccgtgtgctggggcagCgcagccccgctggcgagagg	5	4	19	13	5	0	1	0	0	0	1	0	3	0	2	3	5	3	4	3	5	0	0			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr19:36218411C>T	uc021usv.1	+	15	4190	c.4190C>T	c.(4189-4191)gCg>gTg	p.A1397V	MLL2_uc021usu.1_Missense_Mutation_p.A211V	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	1568	Cys-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GCTGGGGCAGCGCAGCCCCGC	0.657			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			5	152					0	0	0.248553	0	0	T	36218411	C	T	36218411	3	4	5	1	0	0	0	0	1	0	0	0	9621	768	27	1		1	MLL2	19	36218411	Missense_Mutation	SNP	C	TCGA-CS-4944-01A-01D-1468-08	216066	36218411	22910572	26	192											
COL18A1	80781	broad.mit.edu	37	chr21	46925852	46925852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaggagctctacgtccGcgtgcagaacgggttccgga	8	6	16	11	5	1	1	0	0	1	1	3	4	3	4	2	4	4	4	2	4	2	2			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr21:46925852G>A	uc002zhi.3	+	35	3749	c.3728G>A	c.(3727-3729)cGc>cAc	p.R1243H	COL18A1_uc002zhg.3_Missense_Mutation_p.R1063H|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.3_Missense_Mutation_p.R41H|COL18A1_uc002zhk.3_5'Flank	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	1478	Triple-helical region 6 (COL6).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTCTACGTCCGCGTGCAGAAC	0.667													41	91					0	0	0.847076	0	0	A	46925852	G	A	46925852	3	1	5	1	0	0	0	0	1	0	0	0	3675	1087	38	1	4684	1	COL18A1	21	46925852	Missense_Mutation	SNP	G	TCGA-CS-4944-01A-01D-1468-08		46925852	1204043	27	193											
SLC7A3	84889	broad.mit.edu	37	chrX	70148834	70148834	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaagcagagctccaggccCgggccacactggctgtacct	10	5	11	15	1	0	1	0	0	0	1	1	1	1	1	4	3	3	4	4	3	3	1			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chrX:70148834C>A	uc004dyn.3	-	2	563	c.389G>T	c.(388-390)cGg>cTg	p.R130L	SLC7A3_uc004dyo.3_Missense_Mutation_p.R130L	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA.	130					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCTCCAGGCCCGGGCCACACT	0.547													3	46					0.00909568	0.00977786	0.150653	1	0	A	70148834	C	A	70148834	3	1	5	1	0	0	0	0	1	0	0	0	14698	652	23	5	1510	5	SLC7A3	23	70148834	Missense_Mutation	SNP	C	TCGA-CS-4944-01A-01D-1468-08		70148834	85121726	28	194											
AGMAT	79814	broad.mit.edu	37	chr1	15904231	15904231	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccctgtccctggcgcataGgcaggatccagagcgtcaat	8	8	12	13	2	1	1	1	0	0	1	4	2	4	2	3	3	1	2	3	3	2	1			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:15904231G>A	uc001awv.2	-	4	992	c.849C>T	c.(847-849)gcC>gcT	p.A283A	DNAJC16_uc001awu.3_Intron	NM_024758	NP_079034	Q9BSE5	SPEB_HUMAN	Homo sapiens agmatine ureohydrolase (agmatinase) (AGMAT), mRNA.	283					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGCGCATAGGCAGGATCCA	0.527													5	59					0	0	0.021553	0	0	A	15904231	G	A	15904231	2	1	6	1	0	0	0	0	0	0	0	1	385	987	35	3		3	AGMAT	1	15904231	Silent	SNP	G	TCGA-CS-5390-01A-02D-1468-08		15904231	233346390	1	195											
HOOK1	51361	broad.mit.edu	37	chr1	60314160	60314160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaaagcaaatgcagcacGtacacaattagaaacataca	23	5	5	8	1	0	1	0	0	0	1	0	1	0	1	0	0	6	4	0	0	9	3	rs143143349		TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:60314160G>A	uc009wad.3	+	11	1205	c.1103G>A	c.(1102-1104)cGt>cAt	p.R368H	HOOK1_uc001czo.3_Missense_Mutation_p.R368H|HOOK1_uc001czp.3_Non-coding_Transcript|HOOK1_uc010oor.2_Missense_Mutation_p.R326H	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	Homo sapiens hook homolog 1 (Drosophila) (HOOK1), mRNA.	368	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					AATGCAGCACGTACACAATTA	0.308													42	20					0	0	0.042209	0	0	A	60314160	G	A	60314160	3	1	6	1	0	0	0	0	1	0	0	0	7282	1145	40	1	1145	1	HOOK1	1	60314160	Missense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08	44409929	60314160	188936461	2	196											
SERBP1	26135	broad.mit.edu	37	chr1	67895672	67895675	+	Splice_Site	DEL	TTCT	TTCT	-																															cattctgcccctgctttaccTtctttcttaagcgccacggg																										TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:67895672_67895675delTTCT	uc001ddv.3	-	1	453	c.313_splice	c.e1+1	p.G105_splice	SERBP1_uc001ddy.3_Splice_Site_p.G105_splice|SERBP1_uc001ddw.3_Splice_Site_p.G105_splice|SERBP1_uc001ddx.3_Splice_Site_p.G105_splice	NM_001018067	NP_001018077	Q8NC51	PAIRB_HUMAN	Homo sapiens SERPINE1 mRNA binding protein 1 (SERBP1), transcript variant 1, mRNA.	105					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						CTGCTTTACCTTCTTTCTTAAGCG	0.632													36	108	---	---	---	---						-	67895675	TTCT	-	67895672	8	5	6	1	0	1	0	1	0	0	1	0	14075	1623	56	0	946	0	SERBP1	1	67895672	Splice_Site	DEL	TTCT	TCGA-CS-5390-01A-02D-1468-08	7581512	67895672	181354949	3	197											
LRRC7	57554	broad.mit.edu	37	chr1	70452024	70452024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtgaagcccttgaggacCtcttattgtcatccaatatg	10	13	9	9	0	2	2	1	2	1	0	3	4	3	3	3	1	1	0	3	1	4	4			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:70452024C>T	uc001dep.3	+	7	802	c.772C>T	c.(772-774)Ctc>Ttc	p.L258F	LRRC7_uc009wbg.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	258						centrosome|focal adhesion|nucleolus	protein binding	p.L258I(2)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCTTGAGGACCTCTTATTGTC	0.328													25	19					0	0	0.0918	0	0	T	70452024	C	T	70452024	3	4	6	1	0	0	0	0	1	0	0	0	9020	681	24	3	802	3	LRRC7	1	70452024	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08	2556352	70452024	178798597	4	198											
FUBP1	8880	broad.mit.edu	37	chr1	78430845	78430845	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaactgcatttcccggtcCatcgccatgatggaagccag	9	10	10	12	2	0	2	0	2	0	0	3	3	2	3	4	2	3	1	4	2	2	2			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:78430845C>A	uc001dii.3	-	7	633	c.544G>T	c.(544-546)Gga>Tga	p.G182*	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Nonsense_Mutation_p.G203*	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	182					transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TTTCCCGGTCCATCGCCATGA	0.408			"F, N"		oligodendroglioma								8	122					4.68919e-08	5.32862e-08	0.069234	1	0	A	78430845	C	A	78430845	4	1	6	1	0	0	0	0	0	1	0	0	6092	603	21	5	1442	5	FUBP1	1	78430845	Nonsense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08	7978821	78430845	170819776	5	199											
NRAS	4893	broad.mit.edu	37	chr1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggcactgtactcttcttGtccagctgtatccagtatgt	7	15	8	11	0	2	0	0	0	2	0	4	0	4	0	2	1	2	5	2	1	3	5	rs121913254		TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:115256530G>T	uc009wgu.3	-	2	435	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(1229)|p.Q61R(898)|p.Q61L(198)|p.Q61H(123)|p.Q61P(23)|p.Q61E(18)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60>?(2)|p.G60R(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			87	47					1.53041e-28	1.82192e-28	0.048971	1	0	T	115256530	G	T	115256530	3	4	6	1	0	0	0	0	1	0	0	0	10640	1386	48	5	400	5	NRAS	1	115256530	Missense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08	36825685	115256530	133994091	6	200											
KCNH7	90134	broad.mit.edu	37	chr2	163693238	163693238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgcaataaatgatggcaCagttctgcactctggcattt	10	13	9	9	1	2	1	0	1	2	0	2	1	2	1	0	2	2	6	0	2	3	4			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr2:163693238C>T	uc002uch.2	-	1	345	c.116G>A	c.(115-117)tGt>tAt	p.C39Y	KCNH7_uc002uci.3_Missense_Mutation_p.C39Y	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	39					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.N38K(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AATGATGGCACAGTTCTGCAC	0.423													18	60					0	0	0.038395	0	0	T	163693238	C	T	163693238	3	4	6	1	0	0	0	0	1	0	0	0	8037	478	17	3	3600	3	KCNH7	2	163693238	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08		163693238	79506135	7	201											
UBR3	130507	broad.mit.edu	37	chr2	170929938	170929940	+	In_Frame_Del	DEL	GAA	GAA	-																															tcctatttcatgtctaaaagGaagaagaagaattttcagtt																										TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr2:170929938_170929940delGAA	uc010zdi.2	+	35	5020_5022	c.5020_5022delGAA	c.(5020-5022)gaadel	p.E1677del	UBR3_uc002ufr.4_Non-coding_Transcript|UBR3_uc010fqa.3_In_Frame_Del_p.E498del|UBR3_uc002uft.4_In_Frame_Del_p.E534del|UBR3_uc010zdj.2_In_Frame_Del_p.E368del|UBR3_uc002ufu.4_In_Frame_Del_p.E183del	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 3 (putative) (UBR3), mRNA.	1677					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TGTCTAAAAGGAAGAAGAAGAAT	0.379													8	206	---	---	---	---						-	170929940	GAA	-	170929938	7	5	6	1	0	1	0	1	0	0	0	0	16900	1188	41	0	5162	0	UBR3	2	170929938	In_Frame_Del	DEL	GAA	TCGA-CS-5390-01A-02D-1468-08	7236700	170929938	72269435	8	202											
MSTN	2660	broad.mit.edu	37	chr2	190927295	190927295	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatcagcataaacaggtaaaTataaacacagagttgcagtt	19	9	7	6	0	1	1	1	0	0	1	1	1	1	1	0	1	4	5	0	1	8	6			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr2:190927295T>G	uc002urp.3	-	0	161	c.28A>C	c.(28-30)Att>Ctt	p.I10L		NM_005259	NP_005250	O14793	GDF8_HUMAN	Homo sapiens myostatin (MSTN), mRNA.	10					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			AACAGGTAAATATAAACACAG	0.323													40	82					0	0	0.048971	0	0	G	190927295	T	G	190927295	3	3	6	1	0	0	0	0	1	0	0	0	9893	1406	49	5	1111	5	MSTN	2	190927295	Missense_Mutation	SNP	T	TCGA-CS-5390-01A-02D-1468-08	19997357	190927295	52272078	9	203											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								32	62					0	0	0.069456	0	0	T	209113112	C	T	209113112	3	4	6	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08	18185817	209113112	34086261	10	204											
ALPP	250	broad.mit.edu	37	chr2	233244328	233244328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcttgagtgcagccgccCgctttaaccagtgcaacacg	8	9	11	13	3	0	1	0	1	0	0	0	1	0	1	3	1	5	4	3	1	2	4			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr2:233244328C>T	uc002vsq.3	+	3	580	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	139						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TGCAGCCGCCCGCTTTAACCA	0.607													3	31					0	0	0.004672	0	0	T	233244328	C	T	233244328	3	4	6	1	0	0	0	0	1	0	0	0	548	652	23	2	429	2	ALPP	2	233244328	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08	24131216	233244328	9955045	11	205											
ATP2B2	491	broad.mit.edu	37	chr3	10381974	10381974	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaatatgcaccacatccaCtggtccagctgcagtggaga	12	8	10	11	0	0	2	0	1	0	1	2	3	2	2	3	2	3	3	3	2	2	1			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr3:10381974C>A	uc003bvt.3	-	20	3628	c.3189G>T	c.(3187-3189)caG>caT	p.Q1063H	ATP2B2_uc003bvv.3_Missense_Mutation_p.Q1018H|ATP2B2_uc003bvw.3_Missense_Mutation_p.Q1018H|ATP2B2_uc010hdo.3_Missense_Mutation_p.Q768H	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	1063					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ACCACATCCACTGGTCCAGCT	0.557													4	67					0.00024832	0.00027797	0.009096	1	0	A	10381974	C	A	10381974	3	1	6	1	0	0	0	0	1	0	0	0	1140	564	20	5	554	5	ATP2B2	3	10381974	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08		10381974	187640456	12	206											
APPL1	26060	broad.mit.edu	37	chr3	57302495	57302498	+	Frame_Shift_Del	DEL	AAAC	AAAC	-																															agcaacagaaagaactcaatAaacaaaaacagattgaaaag																										TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr3:57302495_57302498delAAAC	uc003dio.3	+	20	2110_2113	c.1963_1966delAAAC	c.(1963-1968)aaacaafs	p.K655fs	APPL1_uc011bey.1_Frame_Shift_Del_p.K638fs|ASB14_uc003dip.1_3'UTR|ASB14_uc003diq.3_3'UTR	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 (APPL1), mRNA.	655	PID.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		agaactcaataaacaaaaacagat	0.314													18	42	---	---	---	---						-	57302498	AAAC	-	57302495	7	5	6	1	0	1	0	1	0	0	0	0	817	363	13	0	2045	0	APPL1	3	57302495	Frame_Shift_Del	DEL	AAAC	TCGA-CS-5390-01A-02D-1468-08	46920521	57302495	140719935	13	207											
SLC12A7	10723	broad.mit.edu	37	chr5	1075520	1075520	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtacttgtagatgcagccagCgatgagcatggcggacagcg	10	7	15	9	3	0	2	0	1	0	1	0	4	0	3	1	2	6	4	1	2	2	3			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr5:1075520C>A	uc003jbu.3	-	14	1999	c.1933G>T	c.(1933-1935)Gct>Tct	p.A645S		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	645					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	ATGCAGCCAGCGATGAGCATG	0.637													3	34					0.004672	0.00493521	0.004672	1	0	A	1075520	C	A	1075520	3	1	6	1	0	0	0	0	1	0	0	0	14388	768	27	5	1358	5	SLC12A7	5	1075520	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08		1075520	179839740	14	208											
DNAH5	1767	broad.mit.edu	37	chr5	13719099	13719099	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttatgagcctcggtggTcatccagaggcggaacgcat	8	9	13	11	3	1	2	1	1	0	1	3	3	2	3	2	4	3	2	2	4	2	1			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr5:13719099T>C	uc003jfd.2	-	71	12433	c.12391A>G	c.(12391-12393)Acc>Gcc	p.T4131A	DNAH5_uc003jfc.2_Missense_Mutation_p.T299A	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4131	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCCTCGGTGGTCATCCAGAGG	0.473									Kartagener syndrome				54	86					0	0	0.048971	0	0	C	13719099	T	C	13719099	3	2	6	1	0	0	0	0	1	0	0	0	4604	1667	58	3	1515	3	DNAH5	5	13719099	Missense_Mutation	SNP	T	TCGA-CS-5390-01A-02D-1468-08	12643579	13719099	167196161	15	209											
DNAH5	1767	broad.mit.edu	37	chr5	13841810	13841810	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aatacactgacctgagcaggGaaggatgaaagaaattcagt	17	7	11	6	0	1	4	1	3	0	1	1	6	1	6	1	2	2	1	1	2	5	2			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr5:13841810G>A	uc003jfd.2	-	32	5517	c.5475C>T	c.(5473-5475)ttC>ttT	p.F1825F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1825	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S1824F(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTGAGCAGGGAAGGATGAAA	0.358									Kartagener syndrome				7	62					0	0	0.02938	0	0	A	13841810	G	A	13841810	2	1	6	1	0	0	0	0	0	0	0	1	4604	1165	41	3		3	DNAH5	5	13841810	Silent	SNP	G	TCGA-CS-5390-01A-02D-1468-08	122711	13841810	167073450	16	210											
GPR151	134391	broad.mit.edu	37	chr5	145895373	145895374	+	Frame_Shift_Del	DEL	TT	TT	-																															ccagcctagatcccaaacacTtttggagtacgccgtagctc																										TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr5:145895373_145895374delTT	uc003lod.1	-	0	303_304	c.303_304delAA	c.(301-306)aaaagtfs	p.K101fs		NM_194251	NP_919227	Q8TDV0	GP151_HUMAN	Homo sapiens G protein-coupled receptor 151 (GPR151), mRNA.	101						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCCAAACACTTTTGGAGTACG	0.515													7	131	---	---	---	---						-	145895374	TT	-	145895373	7	5	6	1	0	1	0	1	0	0	0	0	6657	1609	56	0	959	0	GPR151	5	145895373	Frame_Shift_Del	DEL	TT	TCGA-CS-5390-01A-02D-1468-08	132053563	145895373	35019887	17	211											
FAM50B	26240	broad.mit.edu	37	chr6	3850199	3850199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacaagaggttctcggcgCattacgacgccgtggaggcc	8	7	15	11	5	1	1	0	0	1	1	2	4	1	3	2	5	1	2	2	5	2	2			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:3850199C>T	uc003mvu.3	+	1	266	c.154C>T	c.(154-156)Cat>Tat	p.H52Y	FAM50B_uc021ykt.1_Missense_Mutation_p.H52Y	NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	Homo sapiens family with sequence similarity 50, member B (FAM50B), mRNA.	52						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GTTCTCGGCGCATTACGACGC	0.647													11	19					0	0	0.09319	0	0	T	3850199	C	T	3850199	3	4	6	1	0	0	0	0	1	0	0	0	5578	710	25	3	156	3	FAM50B	6	3850199	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08		3850199	167264868	18	212											
NEU1	4758	broad.mit.edu	37	chr6	31830546	31830546	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgccgtgctgggtcgctccCcagtcatctctccccgcagc	3	8	11	19	4	2	0	1	0	1	0	6	0	4	0	5	1	2	3	5	1	0	0			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:31830546C>A	uc003nxq.4	-	0	164	c.8G>T	c.(7-9)gGg>gTg	p.G3V		NM_000434	NP_000425	Q99519	NEUR1_HUMAN	Homo sapiens sialidase 1 (lysosomal sialidase) (NEU1), mRNA.	3						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	GGGTCGCTCCCCAGTCATCTC	0.647													5	20					4.096e-09	4.8e-09	0.021553	1	0	A	31830546	C	A	31830546	3	1	6	1	0	0	0	0	1	0	0	0	10341	623	22	5	1263	5	NEU1	6	31830546	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08	27980347	31830546	139284521	19	213											
STK38	11329	broad.mit.edu	37	chr6	36489539	36489539	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcaagcatatctgctttaCggagtattttcattgcatac	10	17	6	8	1	3	0	2	0	1	0	3	1	3	1	0	1	5	4	0	1	5	9			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:36489539C>A	uc003omg.3	-	3	950	c.362G>T	c.(361-363)cGt>cTt	p.R121L	STK38_uc003omh.3_Missense_Mutation_p.R121L|STK38_uc003omi.3_Missense_Mutation_p.R121L	NM_007271	NP_009202	Q15208	STK38_HUMAN	Homo sapiens serine/threonine kinase 38 (STK38), mRNA.	121	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	MLL5-L complex|cytoplasm	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity	p.R121L(2)		NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATCTGCTTTACGGAGTATTTT	0.338													64	133					1.21705e-43	1.47224e-43	0.048971	1	0	A	36489539	C	A	36489539	3	1	6	1	0	0	0	0	1	0	0	0	15302	536	19	5	1075	5	STK38	6	36489539	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08	4658993	36489539	134625528	20	214											
DNAH8	1769	broad.mit.edu	37	chr6	38980113	38980113	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcctgagtgatctaaaattGgccattgaaggaacaatcat	15	10	9	7	0	2	3	1	3	1	0	2	4	2	4	2	2	2	0	2	2	5	3			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:38980113G>A	uc021yzh.1	+	89	13603	c.13494G>A	c.(13492-13494)ttG>ttA	p.L4498L	DNAH8_uc003ooe.2_Silent_p.L4281L	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATCTAAAATTGGCCATTGAAG	0.348													47	90					0	0	0.048971	0	0	A	38980113	G	A	38980113	2	1	6	1	0	0	0	0	0	0	0	1	4607	1339	47	3		3	DNAH8	6	38980113	Silent	SNP	G	TCGA-CS-5390-01A-02D-1468-08	2490574	38980113	132134954	21	215											
PHIP	55023	broad.mit.edu	37	chr6	79650981	79650981	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcccctcttcacaagttttGatggctgtcctccatggcca	6	13	8	14	0	2	1	1	1	1	0	5	1	5	1	5	2	0	2	5	2	1	3			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:79650981G>C	uc011dyp.2	-	39	5118	c.4892C>G	c.(4891-4893)tCa>tGa	p.S1631*	PHIP_uc003piq.3_Nonsense_Mutation_p.S656*|PHIP_uc003pir.3_Nonsense_Mutation_p.S1632*|IRAK1BP1_uc010kbg.1_Intron|PHIP_uc003pio.4_Nonsense_Mutation_p.S518*	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA.	1632					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CACAAGTTTTGATGGCTGTCC	0.398													6	178					0	0	0.021553	0	0	C	79650981	G	C	79650981	4	2	6	1	0	0	0	0	0	1	0	0	11842	1294	45	5	574	5	PHIP	6	79650981	Nonsense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08	40670868	79650981	91464086	22	216											
ATG5	9474	broad.mit.edu	37	chr6	106764041	106764041	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgaaacaagttggaattcGtccaaaccacacatctcgaa	15	8	7	11	3	1	1	0	1	1	0	4	3	2	2	2	1	2	1	2	1	5	2			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:106764041G>A	uc003prf.3	-	1	396	c.43C>T	c.(43-45)Cga>Tga	p.R15*	ATG5_uc010kdb.3_Nonsense_Mutation_p.R15*|ATG5_uc003prg.3_5'UTR|ATG5_uc010kdc.3_Nonsense_Mutation_p.R15*	NM_004849	NP_004840	Q9H1Y0	ATG5_HUMAN	Homo sapiens ATG5 autophagy related 5 homolog (S. cerevisiae) (ATG5), mRNA.	15					apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	p.R15*(2)		endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		GTTGGAATTCGTCCAAACCAC	0.378													73	141					0	0	0.048971	0	0	A	106764041	G	A	106764041	4	1	6	1	0	0	0	0	0	1	0	0	1100	1153	40	1	812	1	ATG5	6	106764041	Nonsense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08	27113060	106764041	64351026	23	217											
RSPH4A	345895	broad.mit.edu	37	chr6	116938227	116938227	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacaagccagtcagaaggAaacacctttcaacagtctca	16	6	6	13	0	3	1	3	0	1	1	4	2	3	2	2	1	3	0	2	1	4	1			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:116938227A>G	uc003pxe.2	+	0	586	c.441A>G	c.(439-441)ggA>ggG	p.G147G	RSPH4A_uc010kee.2_Silent_p.G147G	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	Homo sapiens radial spoke head 4 homolog A (Chlamydomonas) (RSPH4A), transcript variant 1, mRNA.	147					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGTCAGAAGGAAACACCTTTC	0.458									Kartagener syndrome				45	68					0	0	0.048971	0	0	G	116938227	A	G	116938227	2	3	6	1	0	0	0	0	0	0	0	1	13706	233	9	3		3	RSPH4A	6	116938227	Silent	SNP	A	TCGA-CS-5390-01A-02D-1468-08	10174186	116938227	54176840	24	218											
ARID1B	57492	broad.mit.edu	37	chr6	157521872	157521872	+	Frame_Shift_Del	DEL	C	C	-																															atatggacggcatgtacgggCccccagccaagcgccacgag																										TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:157521872delC	uc003qqp.3	+	16	4105	c.4105delC	c.(4105-4107)cccfs	p.P1369fs	ARID1B_uc003qqo.3_Frame_Shift_Del_p.P1382fs|ARID1B_uc003qqn.3_Frame_Shift_Del_p.P1422fs	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1369					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CATGTACGGGCCCCCAGCCAA	0.507													22	164	---	---	---	---						-	157521872	C	-	157521872	7	5	6	1	0	1	0	1	0	0	0	0	914	739	26	0	4214	0	ARID1B	6	157521872	Frame_Shift_Del	DEL	C	TCGA-CS-5390-01A-02D-1468-08	40583645	157521872	13593195	25	219											
ABP1	26	broad.mit.edu	37	chr7	150554515	150554515	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagggcaacgctgtgctctaCggcggctggagctttgcctt	5	10	15	11	3	1	0	0	0	1	0	1	2	1	1	1	4	5	5	1	4	2	3			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr7:150554515C>T	uc003why.1	+	2	5175	c.957C>T	c.(955-957)taC>taT	p.Y319Y	ABP1_uc003whz.1_Silent_p.Y319Y|ABP1_uc003wia.1_Silent_p.Y319Y	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	319					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CTGTGCTCTACGGCGGCTGGA	0.692													5	5					0	0	0.069234	0	0	T	150554515	C	T	150554515	2	4	6	1	0	0	0	0	0	0	0	1	98	547	19	1		1	ABP1	7	150554515	Silent	SNP	C	TCGA-CS-5390-01A-02D-1468-08		150554515	8584148	26	220											
CSMD3	114788	broad.mit.edu	37	chr8	113259317	113259319	+	In_Frame_Del	DEL	AGA	AGA	-																															tgcgtgttgtagacccttggAgaaggtgtccttttttgcaa																										TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr8:113259317_113259319delAGA	uc003ynu.3	-	63	10311_10313	c.10152_10154delTCT	c.(10150-10155)cttctc>ctc	p.3384_3385LL>L	CSMD3_uc003yns.3_In_Frame_Del_p.2586_2587LL>L|CSMD3_uc003ynt.3_In_Frame_Del_p.3344_3345LL>L|CSMD3_uc011lhx.2_In_Frame_Del_p.3215_3216LL>L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3384	Sushi 27.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGACCCTTGGAGAAGGTGTCCTT	0.399										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	66	---	---	---	---						-	113259319	AGA	-	113259317	7	5	6	1	0	1	0	1	0	0	0	0	3946	304	11	0	1001	0	CSMD3	8	113259317	In_Frame_Del	DEL	AGA	TCGA-CS-5390-01A-02D-1468-08		113259317	33104705	27	221											
FAM83A	84985	broad.mit.edu	37	chr8	124219482	124219482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtttgacgaggagttcCgccacctctacgcctcctcc	6	10	9	16	3	1	1	0	1	1	0	4	3	4	2	6	1	2	3	6	1	1	3			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr8:124219482C>T	uc003ypv.3	+	4	2873	c.859C>T	c.(859-861)Cgc>Tgc	p.R287C	FAM83A_uc003ypw.3_Missense_Mutation_p.R287C|FAM83A_uc003ypx.3_Missense_Mutation_p.R287C|FAM83A_uc003ypy.3_Missense_Mutation_p.R231C|FAM83A_uc003ypz.3_Missense_Mutation_p.R287C	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.	287										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)			CGAGGAGTTCCGCCACCTCTA	0.672													11	15					0	0	0.09319	0	0	T	124219482	C	T	124219482	3	4	6	1	0	0	0	0	1	0	0	0	5633	652	23	2	873	2	FAM83A	8	124219482	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08	10960165	124219482	22144540	28	222											
ZNF483	158399	broad.mit.edu	37	chr9	114304161	114304161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataatttcaaagaaacttcaGacttaattaaacatctgaga	19	12	4	6	0	3	3	2	1	1	3	3	4	3	3	0	0	2	0	0	0	6	5			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr9:114304161G>A	uc004bff.2	+	5	1170	c.946G>A	c.(946-948)Gac>Aac	p.D316N	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	Homo sapiens zinc finger protein 483 (ZNF483), transcript variant 1, mRNA.	316					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						AGAAACTTCAGACTTAATTAA	0.398													11	264					0	0	0.069234	0	0	A	114304161	G	A	114304161	3	1	6	1	0	0	0	0	1	0	0	0	17933	942	33	3	964	3	ZNF483	9	114304161	Missense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08		114304161	26909270	29	223											
NOTCH1	4851	broad.mit.edu	37	chr9	139412203	139412203	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctggccccggccgacgcaCcgggcatgcagatgcactgg	6	4	14	17	4	0	1	0	0	0	1	0	2	0	1	5	4	2	4	5	4	0	0			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr9:139412203C>T	uc004chz.3	-	8	1441	c.1441_splice	c.e8+1	p.G481_splice		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	481	EGF-like 12; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCCGACGCACCGGGCATGCA	0.667			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			8	60					0	0	0.047766	0	0	T	139412203	C	T	139412203	5	4	6	1	0	0	0	0	0	0	1	0	10547	521	18	3	6333	3	NOTCH1	9	139412203	Splice_Site	SNP	C	TCGA-CS-5390-01A-02D-1468-08	25108042	139412203	1801228	30	224											
NOTCH1	4851	broad.mit.edu	37	chr9	139413129	139413131	+	In_Frame_Del	DEL	TCA	TCA	-																															agcaggcggcgctggcacagTcatcaatgttctcgctgcag																										TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr9:139413129_139413131delTCA	uc004chz.3	-	5	1011_1013	c.1011_1013delTGA	c.(1009-1014)gatgac>gac	p.337_338DD>D		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	337	EGF-like 9; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCTGGCACAGTCATCAATGTTCT	0.631			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			13	28	---	---	---	---						-	139413131	TCA	-	139413129	7	5	6	1	0	1	0	1	0	0	0	0	10547	1667	58	0	6770	0	NOTCH1	9	139413129	In_Frame_Del	DEL	TCA	TCGA-CS-5390-01A-02D-1468-08	926	139413129	1800302	31	225											
HK1	3098	broad.mit.edu	37	chr10	71136809	71136809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccggagctgctcacccgagGgaagtttaacaccagtgatg	10	7	12	12	2	1	1	1	1	0	0	1	4	1	3	3	2	3	3	3	2	2	2			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr10:71136809G>A	uc001jpl.4	+	7	1096	c.995G>A	c.(994-996)gGg>gAg	p.G332E	HK1_uc001jpg.4_Missense_Mutation_p.G320E|HK1_uc001jph.4_Missense_Mutation_p.G336E|HK1_uc001jpi.4_Missense_Mutation_p.G336E|HK1_uc001jpj.4_Missense_Mutation_p.G367E|HK1_uc001jpk.4_Missense_Mutation_p.G331E|HK1_uc009xqd.3_Missense_Mutation_p.G210E	NM_000188	NP_000179	P19367	HXK1_HUMAN	Homo sapiens hexokinase 1 (HK1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	332	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CTCACCCGAGGGAAGTTTAAC	0.542													5	124					0	0	0.02938	0	0	A	71136809	G	A	71136809	3	1	6	1	0	0	0	0	1	0	0	0	7190	1232	43	3	1203	3	HK1	10	71136809	Missense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08		71136809	64397938	32	226											
NPM3	10360	broad.mit.edu	37	chr10	103541522	103541522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcccccctgctttttggcagGaaggatggggcacagctcaa	8	8	13	12	0	1	0	1	0	0	0	1	2	1	2	3	5	2	4	3	5	2	2			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr10:103541522G>A	uc001ktt.3	-	4	531	c.508C>T	c.(508-510)Cct>Tct	p.P170S	FGF8_uc021pxg.1_5'Flank	NM_006993	NP_008924	O75607	NPM3_HUMAN	Homo sapiens nucleophosmin/nucleoplasmin 3 (NPM3), mRNA.	170							nucleic acid binding	p.P170S(2)		large_intestine(3)|lung(1)|skin(1)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		TTTTTGGCAGGAAGGATGGGG	0.582											OREG0020469	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	367					0	0	0.02938	0	0	A	103541522	G	A	103541522	3	1	6	1	0	0	0	0	1	0	0	0	10589	1174	41	3	32	3	NPM3	10	103541522	Missense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08	32404713	103541522	31993225	33	227											
PPP2R2D	55844	broad.mit.edu	37	chr10	133748026	133748026	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcaacaggagacaagggCggcagagttgttatttttca	11	11	12	7	1	1	2	1	0	0	2	1	3	1	2	0	3	2	4	0	3	3	5			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr10:133748026C>T	uc001lks.3	+	0	67	c.66C>T	c.(64-66)ggC>ggT	p.G22G	PPP2R2D_uc001lkr.3_5'UTR|PPP2R2D_uc001lkt.3_5'UTR	NM_018461	NP_060931	Q66LE6	2ABD_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, delta (PPP2R2D), transcript variant 1, mRNA.	55					cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		GAGACAAGGGCGGCAGAGTTG	0.413													47	260					0	0	0.048971	0	0	T	133748026	C	T	133748026	2	4	6	1	0	0	0	0	0	0	0	1	12387	759	27	1		1	PPP2R2D	10	133748026	Silent	SNP	C	TCGA-CS-5390-01A-02D-1468-08	30206504	133748026	1786721	34	228											
OR1S1	219959	broad.mit.edu	37	chr11	57982676	57982676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctcatgcggcccaggttcGgcattttgctcacagtcatc	6	13	9	13	2	3	0	3	0	1	0	6	0	3	0	1	3	2	3	1	3	0	4	rs117920455	by1000genomes	TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr11:57982676G>A	uc010rkc.2	+	0	460	c.460G>A	c.(460-462)Ggc>Agc	p.G154S		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				GCCCAGGTTCGGCATTTTGCT	0.463													6	280					0	0	0.02938	0	0	A	57982676	G	A	57982676	3	1	6	1	0	0	0	0	1	0	0	0	10972	1116	39	2	462	2	OR1S1	11	57982676	Missense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08		57982676	77023840	35	229											
MLL	4297	broad.mit.edu	37	chr11	118380710	118380710	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaatttcagctccccactgAtgctttggcttcagcaagaa	10	12	8	11	0	2	2	2	1	0	1	3	2	3	2	2	1	3	5	2	1	3	4			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr11:118380710A>G	uc001pta.3	+	29	10962	c.10939A>G	c.(10939-10941)Atg>Gtg	p.M3647V	MLL_uc001ptb.3_Missense_Mutation_p.M3650V	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	3647					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CTCCCCACTGATGCTTTGGCT	0.398			"T, O"	"MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"	"AML, ALL"								6	91					0	0	0.038147	0	0	G	118380710	A	G	118380710	3	3	6	1	0	0	0	0	1	0	0	0	9620	333	12	3	11057	3	MLL	11	118380710	Missense_Mutation	SNP	A	TCGA-CS-5390-01A-02D-1468-08	60398034	118380710	16625806	36	230											
AVPR1A	552	broad.mit.edu	37	chr12	63543713	63543713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaaggcgcccagcagaCgatgtaagccgtcacgatca	14	4	12	11	4	2	2	2	0	0	2	2	5	2	2	2	1	2	2	2	1	3	1			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr12:63543713C>T	uc001sro.1	-	0	2878	c.904G>A	c.(904-906)Gtc>Atc	p.V302I		NM_000706	NP_000697	P37288	V1AR_HUMAN	Homo sapiens arginine vasopressin receptor 1A (AVPR1A), mRNA.	302					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	GCCCAGCAGACGATGTAAGCC	0.567													6	142					0	0	0.02938	0	0	T	63543713	C	T	63543713	3	4	6	1	0	0	0	0	1	0	0	0	1231	536	19	1	360	1	AVPR1A	12	63543713	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08		63543713	70308182	37	231											
XPO4	64328	broad.mit.edu	37	chr13	21381759	21381759	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtctctccctgagtatcatCagctaagaggtagccttcag	10	11	9	11	0	4	2	3	1	1	1	6	2	5	2	2	1	2	3	2	1	3	4			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr13:21381759C>G	uc001unq.4	-	12	1690	c.1654G>C	c.(1654-1656)Gat>Cat	p.D552H		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	Homo sapiens exportin 4 (XPO4), mRNA.	552					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TGAGTATCATCAGCTAAGAGG	0.289													5	118					0	0	0.021553	0	0	G	21381759	C	G	21381759	3	3	6	1	0	0	0	0	1	0	0	0	17443	826	29	5	1845	5	XPO4	13	21381759	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08		21381759	93788119	38	232											
CSNK1A1L	122011	broad.mit.edu	37	chr13	37678952	37678952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaacttattacagtgacGcccagtacccatcaggaagt	14	8	8	11	1	1	1	1	1	0	0	1	3	1	2	2	1	4	1	2	1	6	3			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr13:37678952G>A	uc001uwm.1	-	0	850	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C		NM_145203	NP_660204	Q8N752	KC1AL_HUMAN	Homo sapiens casein kinase 1, alpha 1-like (CSNK1A1L), mRNA.	148	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		TTACAGTGACGCCCAGTACCC	0.408													35	143					0	0	0.069456	0	0	A	37678952	G	A	37678952	3	1	6	1	0	0	0	0	1	0	0	0	3951	1087	38	1	575	1	CSNK1A1L	13	37678952	Missense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08	16297193	37678952	77490926	39	233											
UGGT2	55757	broad.mit.edu	37	chr13	96489363	96489363	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcaattgttttggctctttGtttggattcatcatcacacc	8	18	6	9	0	5	0	4	0	1	0	5	1	5	1	1	2	0	3	1	2	1	6			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr13:96489363G>A	uc001vmt.3	-	36	4548	c.4378C>T	c.(4378-4380)Caa>Taa	p.Q1460*	UGGT2_uc001vms.3_Nonsense_Mutation_p.Q180*	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	1460	Glucosyltransferase.				post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTGGCTCTTTGTTTGGATTCA	0.358													21	46					0	0	0.069288	0	0	A	96489363	G	A	96489363	4	1	6	1	0	0	0	0	0	1	0	0	16939	1386	48	3	184	3	UGGT2	13	96489363	Nonsense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08	58810411	96489363	18680515	40	234											
GPHN	10243	broad.mit.edu	37	chr14	67576892	67576892	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgccaggacaagtcatgcgGgttacaacaggtgctccaat	12	8	11	10	1	1	0	1	0	0	0	2	1	2	1	2	3	5	2	2	3	4	1			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr14:67576892G>A	uc001xiy.3	+	12	2351	c.1230G>A	c.(1228-1230)cgG>cgA	p.R410R	GPHN_uc001xix.3_Silent_p.R443R|GPHN_uc010tss.2_Silent_p.R456R|GPHN_uc010tst.2_Silent_p.R379R|GPHN_uc010tsu.2_Silent_p.R333R	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	Homo sapiens gephyrin (GPHN), transcript variant 2, mRNA.	410	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AAGTCATGCGGGTTACAACAG	0.458			T	MLL	AL								6	189					0	0	0.02938	0	0	A	67576892	G	A	67576892	2	1	6	1	0	0	0	0	0	0	0	1	6610	1219	43	3		3	GPHN	14	67576892	Silent	SNP	G	TCGA-CS-5390-01A-02D-1468-08		67576892	39772648	41	235											
TTLL5	23093	broad.mit.edu	37	chr14	76349031	76349031	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccttttttttttgtaggcaAtctttggcagccagacacta	8	17	7	9	0	1	1	0	0	1	1	2	1	2	1	2	2	1	3	2	2	3	8			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr14:76349031A>G	uc010ask.2	+	30	3846	c.3571A>G	c.(3571-3573)Atc>Gtc	p.I1191V	TTLL5_uc001xrx.3_Missense_Mutation_p.I1176V|TTLL5_uc001xrz.3_Missense_Mutation_p.I751V|TTLL5_uc001xsa.3_Missense_Mutation_p.I250V	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA.	1176					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TTTGTAGGCAATCTTTGGCAG	0.413													40	37					0	0	0.048971	0	0	G	76349031	A	G	76349031	3	3	6	1	0	0	0	0	1	0	0	0	16727	101	4	3	3640	3	TTLL5	14	76349031	Missense_Mutation	SNP	A	TCGA-CS-5390-01A-02D-1468-08	8772139	76349031	31000509	42	236											
PCSK6	5046	broad.mit.edu	37	chr15	101929754	101929754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatcggtacagcgctgacGcagatccgtggtgacctggg	7	7	15	12	4	0	3	0	2	0	1	2	3	1	3	3	3	2	3	3	3	1	1			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr15:101929754G>A	uc002bxa.2	-	9	1536	c.1222C>T	c.(1222-1224)Cgt>Tgt	p.R408C	PCSK6_uc010bpd.3_Missense_Mutation_p.R279C|PCSK6_uc002bwy.3_Missense_Mutation_p.R408C|PCSK6_uc010bpe.3_Missense_Mutation_p.R405C|PCSK6_uc002bxb.2_Missense_Mutation_p.R408C|PCSK6_uc002bxc.1_Missense_Mutation_p.R408C|PCSK6_uc002bxd.1_Missense_Mutation_p.R408C|PCSK6_uc002bxe.3_Missense_Mutation_p.R408C|PCSK6_uc002bxg.1_Missense_Mutation_p.R408C	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	409	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGCGCTGACGCAGATCCGTG	0.582													38	57					0	0	0.11126	0	0	A	101929754	G	A	101929754	3	1	6	1	0	0	0	0	1	0	0	0	11604	1087	38	1	2219	1	PCSK6	15	101929754	Missense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08		101929754	601638	43	237											
IKZF3	22806	broad.mit.edu	37	chr17	37985663	37985663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctatgtcttcatcttcattgGctgggccttctccactgtcc	4	16	7	14	0	5	0	2	0	3	0	7	0	6	0	3	2	0	1	3	2	1	5			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr17:37985663G>A	uc002hsu.3	-	2	202	c.140C>T	c.(139-141)gCc>gTc	p.A47V	IKZF3_uc002htd.3_Intron|IKZF3_uc010cwd.3_Missense_Mutation_p.A47V|IKZF3_uc002hsv.3_Intron|IKZF3_uc010cwe.3_Missense_Mutation_p.A47V|IKZF3_uc010cwf.3_Missense_Mutation_p.A47V|IKZF3_uc010cwg.3_Missense_Mutation_p.A47V|IKZF3_uc002hsw.3_Missense_Mutation_p.A47V|IKZF3_uc002hsx.3_Missense_Mutation_p.A47V|IKZF3_uc002hsy.3_Missense_Mutation_p.A47V|IKZF3_uc002hsz.3_Missense_Mutation_p.A47V|IKZF3_uc002hta.3_Missense_Mutation_p.A47V|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Missense_Mutation_p.A47V|IKZF3_uc002htc.3_5'UTR	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	47					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|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)			ATCTTCATTGGCTGGGCCTTC	0.403													5	89					0	0	0.014758	0	0	A	37985663	G	A	37985663	3	1	6	1	0	0	0	0	1	0	0	0	7616	1203	42	3	1413	3	IKZF3	17	37985663	Missense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08		37985663	43209547	44	238											
KRT9	3857	broad.mit.edu	37	chr17	39725736	39725736	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcaatgagctgctcatacTcctgacgcatgtcattgagg	10	11	10	10	1	2	3	2	3	0	0	3	3	3	3	1	1	4	4	1	1	3	3			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr17:39725736T>A	uc002hxe.4	-	3	1052	c.986A>T	c.(985-987)gAg>gTg	p.E329V	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	329	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CTGCTCATACTCCTGACGCAT	0.498													30	46					0	0	0.045705	0	0	A	39725736	T	A	39725736	3	1	6	1	0	0	0	0	1	0	0	0	8501	1551	54	5	901	5	KRT9	17	39725736	Missense_Mutation	SNP	T	TCGA-CS-5390-01A-02D-1468-08	1740073	39725736	41469474	45	239											
CDH19	28513	broad.mit.edu	37	chr18	64218460	64218460	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacccaatactcatcttgcaGttctctatccattttagaag	11	15	4	11	0	3	1	1	0	2	1	5	1	4	1	2	0	3	2	2	0	6	7			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr18:64218460G>T	uc002lkc.1	-	4	784	c.646C>A	c.(646-648)Ctg>Atg	p.L216M	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Missense_Mutation_p.L216M|CDH19_uc002lkd.3_Missense_Mutation_p.L216M	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	216	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TCATCTTGCAGTTCTCTATCC	0.308													7	162					0.00307968	0.00334748	0.038147	1	0	T	64218460	G	T	64218460	3	4	6	1	0	0	0	0	1	0	0	0	3104	1020	36	5	1704	5	CDH19	18	64218460	Missense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08		64218460	13858788	46	240											
ANGPT4	51378	broad.mit.edu	37	chr20	861878	861878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactggcactggccccagagCgctggatctctgcacagtcc	7	7	11	16	1	1	1	0	0	1	1	3	2	2	2	3	3	2	3	3	3	0	0			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr20:861878C>T	uc002wei.3	-	4	990	c.887G>A	c.(886-888)cGc>cAc	p.R296H	ANGPT4_uc010zpn.2_Missense_Mutation_p.R290H	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	296	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GGCCCCAGAGCGCTGGATCTC	0.562													11	40					0	0	0.09319	0	0	T	861878	C	T	861878	3	4	6	1	0	0	0	0	1	0	0	0	612	768	27	1	644	1	ANGPT4	20	861878	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08		861878	62163642	47	241											
POTEH	23784	broad.mit.edu	37	chr22	16287514	16287514	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtcttcatagcagagtcGtcgtggtctccagaagtgcc	8	11	12	10	2	3	2	1	0	2	2	6	2	3	2	2	1	2	1	2	1	2	2			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr22:16287514G>A	uc010gqp.2	-	0	424	c.372C>T	c.(370-372)gaC>gaT	p.D124D	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_Intron	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	124								p.H123D(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TAGCAGAGTCGTCGTGGTCTC	0.607													40	363					0	0	0.048971	0	0	A	16287514	G	A	16287514	2	1	6	1	0	0	0	0	0	0	0	1	12267	1136	40	1		1	POTEH	22	16287514	Silent	SNP	G	TCGA-CS-5390-01A-02D-1468-08		16287514	35017052	48	242											
BEND2	139105	broad.mit.edu	37	chrX	18221653	18221653	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaagcagaaagatgacaagGctctacctgggcccacattt	13	7	11	10	0	1	3	0	1	1	2	1	4	1	4	2	3	2	2	2	3	4	2			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chrX:18221653G>T	uc004cyj.4	-	4	1029	c.875C>A	c.(874-876)gCc>gAc	p.A292D	BEND2_uc010nfb.2_Missense_Mutation_p.A292D	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	292										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AGATGACAAGGCTCTACCTGG	0.418													13	210					7.03913e-09	8.12207e-09	0.09319	1	0	T	18221653	G	T	18221653	3	4	6	1	0	0	0	0	1	0	0	0	1398	1203	42	5	1590	5	BEND2	23	18221653	Missense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08		18221653	137048907	49	243											
FAM48B1	100130302	broad.mit.edu	37	chrX	24380909	24380909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagaacaggctctggatcGcgcagagaatatcattgaaa	14	10	10	7	2	2	3	1	1	1	2	3	5	2	4	0	2	1	2	0	2	5	4			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chrX:24380909G>A	uc011mjx.2	+	0	32	c.32G>A	c.(31-33)cGc>cAc	p.R11H		NM_001136234	NP_001129706			Homo sapiens family with sequence similarity 48, member B1 (FAM48B1), mRNA.											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(1)|skin(1)	26						GCTCTGGATCGCGCAGAGAAT	0.458													44	54					0	0	0.11126	0	0	A	24380909	G	A	24380909	3	1	6	1	0	0	0	0	1	0	0	0	5573	1087	38	1	34	1	FAM48B1	23	24380909	Missense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08	6159256	24380909	130889651	50	244											
TAF9B	51616	broad.mit.edu	37	chrX	77394339	77394339	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttggtgtttcattaacttaCggaaagcaaattccaacatt	13	15	6	7	1	1	0	1	0	0	0	2	1	2	1	1	2	4	2	1	2	5	6			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chrX:77394339C>T	uc004eda.3	-	2	204	c.133_splice	c.e2+1	p.R45_splice		NM_015975	NP_057059	Q9HBM6	TAF9B_HUMAN	Homo sapiens TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa (TAF9B), mRNA.	45					negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						CATTAACTTACGGAAAGCAAA	0.328													44	72					0	0	0.042209	0	0	T	77394339	C	T	77394339	5	4	6	1	0	0	0	0	0	0	1	0	15533	550	19	1	645	1	TAF9B	23	77394339	Splice_Site	SNP	C	TCGA-CS-5390-01A-02D-1468-08	53013430	77394339	77876221	51	245											
SATL1	340562	broad.mit.edu	37	chrX	84363189	84363189	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtaagcttgggcttggctgGattatacctgtttggttgga	7	15	14	5	0	0	0	0	0	0	0	0	2	0	2	1	5	2	6	1	5	3	7			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chrX:84363189G>A	uc004een.3	-	0	786	c.786C>T	c.(784-786)atC>atT	p.I262I		NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.	75	Gln-rich.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GGCTTGGCTGGATTATACCTG	0.433													7	335					0	0	0.038147	0	0	A	84363189	G	A	84363189	2	1	6	1	0	0	0	0	0	0	0	1	13855	1164	41	3		3	SATL1	23	84363189	Silent	SNP	G	TCGA-CS-5390-01A-02D-1468-08	6968850	84363189	70907371	52	246											
ARMCX1	51309	broad.mit.edu	37	chrX	100808652	100808652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaatgccatacgtgaattgGgtggtgtcccaattattgca	11	12	11	7	1	0	2	0	1	0	1	1	2	1	2	2	2	3	1	2	2	5	4			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chrX:100808652G>A	uc022cak.1	+	0	739	c.739G>A	c.(739-741)Ggt>Agt	p.G247S	ARMCX1_uc004ehv.3_Missense_Mutation_p.G247S|ARMCX1_uc004ehw.3_Missense_Mutation_p.G247S	NM_016608	NP_057692	Q9P291	ARMX1_HUMAN	Homo sapiens armadillo repeat containing, X-linked 1 (ARMCX1), mRNA.	247						integral to membrane	binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						ACGTGAATTGGGTGGTGTCCC	0.388													106	198					0	0	0.048971	0	0	A	100808652	G	A	100808652	3	1	6	1	0	0	0	0	1	0	0	0	959	1232	43	3	741	3	ARMCX1	23	100808652	Missense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08	16445463	100808652	54461908	53	247											
FAM70A	55026	broad.mit.edu	37	chrX	119410865	119410865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcttggcaactgctgacatCgatgtattcgtagtacccac	10	12	8	11	2	1	1	0	1	1	0	3	2	1	1	1	1	3	5	1	1	4	5			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chrX:119410865C>T	uc004eso.4	-	7	849	c.622G>A	c.(622-624)Gat>Aat	p.D208N	FAM70A_uc004esp.4_Missense_Mutation_p.D184N|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.	208						integral to membrane		p.I207I(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2)	19						CTGCTGACATCGATGTATTCG	0.587													5	197					0	0	0.021553	0	0	T	119410865	C	T	119410865	3	4	6	1	0	0	0	0	1	0	0	0	5605	884	31	2	439	2	FAM70A	23	119410865	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08	18602213	119410865	35859695	54	248											
GDAP2	54834	broad.mit.edu	37	chr1	118441728	118441728	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaatctgtcgttcaggtacCacaggctccccttctgcatt	7	13	7	14	1	3	0	1	0	2	0	5	0	4	0	3	2	2	4	3	2	2	5			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr1:118441728C>A	uc001ehf.3	-	6	1046	c.747G>T	c.(745-747)gtG>gtT	p.V249V	GDAP2_uc001ehg.3_Silent_p.V249V	NM_017686	NP_060156	Q9NXN4	GDAP2_HUMAN	Homo sapiens ganglioside induced differentiation associated protein 2 (GDAP2), transcript variant 1, mRNA.	249										kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		GTTCAGGTACCACAGGCTCCC	0.438													61	128					5.39075e-54	6.80937e-54	0.048971	1	0	A	118441728	C	A	118441728	2	1	7	1	0	0	0	0	0	0	0	1	6309	581	21	5		5	GDAP2	1	118441728	Silent	SNP	C	TCGA-CS-5393-01A-01D-1468-08		118441728	130808893	1	249											
OR2W3	343171	broad.mit.edu	37	chr1	248059264	248059264	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctatgaccggtgtgtggctAtctgcaagcccctgcactac	7	10	10	14	1	1	1	0	1	1	0	1	1	1	1	4	2	4	3	4	2	4	3			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr1:248059264A>G	uc010pzb.2	+	0	376	c.376A>G	c.(376-378)Atc>Gtc	p.I126V	OR2W3_uc001idp.1_Missense_Mutation_p.I126V	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	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;0.0319)			GTGTGTGGCTATCTGCAAGCC	0.607													20	61					0	0	0.055883	0	0	G	248059264	A	G	248059264	3	3	7	1	0	0	0	0	1	0	0	0	11033	449	16	3	378	3	OR2W3	1	248059264	Missense_Mutation	SNP	A	TCGA-CS-5393-01A-01D-1468-08	129617536	248059264	1191357	2	250											
SPTBN1	6711	broad.mit.edu	37	chr2	54880943	54880943	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggtgcgcgacctcatgctCtggatggaggatgtcatccg	7	10	14	10	3	3	0	2	0	1	0	4	4	4	3	2	4	2	1	2	4	0	0			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr2:54880943C>G	uc002rxu.3	+	26	6024	c.5775C>G	c.(5773-5775)ctC>ctG	p.L1925L	SPTBN1_uc002rxx.3_Silent_p.L1912L|SPTBN1_uc002rxy.3_Silent_p.L70L	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	1925	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACCTCATGCTCTGGATGGAGG	0.577													14	22					0	0	0.105934	0	0	G	54880943	C	G	54880943	2	3	7	1	0	0	0	0	0	0	0	1	15118	900	32	5		5	SPTBN1	2	54880943	Silent	SNP	C	TCGA-CS-5393-01A-01D-1468-08		54880943	188318430	3	251											
NEB	4703	broad.mit.edu	37	chr2	152474871	152474871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatttcagcgtttctggaCgctgacggtagatagtatca	11	13	10	7	3	3	2	2	1	1	1	3	3	3	3	0	2	1	4	0	2	5	6			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr2:152474871C>T	uc021vrb.1	-	68	10294	c.10265G>A	c.(10264-10266)cGt>cAt	p.R3422H	NEB_uc002txu.3_Missense_Mutation_p.R3665H|NEB_uc021vrc.1_Missense_Mutation_p.R3665H|NEB_uc010fnx.3_Missense_Mutation_p.R3410H|NEB_uc021vrd.1_Missense_Mutation_p.R3422H	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3422					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CGTTTCTGGACGCTGACGGTA	0.443													54	210					0	0	0.048971	0	0	T	152474871	C	T	152474871	3	4	7	1	0	0	0	0	1	0	0	0	10302	536	19	1	15128	1	NEB	2	152474871	Missense_Mutation	SNP	C	TCGA-CS-5393-01A-01D-1468-08	97593928	152474871	90724502	4	252											
UBR3	130507	broad.mit.edu	37	chr2	170917865	170917865	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctcctgaatccatggaaaAatgcttacaggacttctgct	11	12	8	10	0	2	1	0	1	2	0	4	3	3	3	2	2	3	2	2	2	4	2			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr2:170917865A>G	uc010zdi.2	+	34	4931	c.4931A>G	c.(4930-4932)aAa>aGa	p.K1644R	UBR3_uc002ufr.4_Non-coding_Transcript|UBR3_uc010fqa.3_Missense_Mutation_p.K465R|UBR3_uc002uft.4_Missense_Mutation_p.K501R|UBR3_uc010zdj.2_Missense_Mutation_p.K335R|UBR3_uc002ufu.4_Missense_Mutation_p.K150R	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 3 (putative) (UBR3), mRNA.	1644					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TCCATGGAAAAATGCTTACAG	0.363													109	176					0	0	0.048971	0	0	G	170917865	A	G	170917865	3	3	7	1	0	0	0	0	1	0	0	0	16900	14	1	3	5069	3	UBR3	2	170917865	Missense_Mutation	SNP	A	TCGA-CS-5393-01A-01D-1468-08	18442994	170917865	72281508	5	253											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								31	68					0	0	0.050027	0	0	T	209113112	C	T	209113112	3	4	7	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CS-5393-01A-01D-1468-08	38195247	209113112	34086261	6	254											
DCLK3	85443	broad.mit.edu	37	chr3	36779426	36779426	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttccacaaggtccttcttgGccttggctgctccctgagca	5	12	9	15	0	1	1	0	1	1	0	4	1	4	1	4	3	2	3	4	3	1	4			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr3:36779426G>T	uc003cgi.2	-	1	1216	c.725C>A	c.(724-726)gCc>gAc	p.A242D		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	242						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GTCCTTCTTGGCCTTGGCTGC	0.562													6	139					2.7689e-08	3.24163e-08	0.02938	1	0	T	36779426	G	T	36779426	3	4	7	1	0	0	0	0	1	0	0	0	4293	1203	42	5	1237	5	DCLK3	3	36779426	Missense_Mutation	SNP	G	TCGA-CS-5393-01A-01D-1468-08		36779426	161243004	7	255											
BCL6	604	broad.mit.edu	37	chr3	187449545	187449545	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaacatgctccatctgcAggtacatagccgtggccatc	10	8	8	15	1	1	0	0	0	1	0	3	0	2	0	4	2	5	3	4	2	3	2			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr3:187449545A>G	uc003frp.3	-	3	792	c.335T>C	c.(334-336)cTg>cCg	p.L112P	LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Missense_Mutation_p.L112P|BCL6_uc010hza.2_Missense_Mutation_p.L10P|BCL6_uc003frq.2_Missense_Mutation_p.L112P	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	112					negative regulation of B cell apoptosis|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CTCCATCTGCAGGTACATAGC	0.537			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"								20	51					0	0	0.062417	0	0	G	187449545	A	G	187449545	3	3	7	1	0	0	0	0	1	0	0	0	1376	188	7	4	1813	4	BCL6	3	187449545	Missense_Mutation	SNP	A	TCGA-CS-5393-01A-01D-1468-08	150670119	187449545	10572885	8	256											
WDFY3	23001	broad.mit.edu	37	chr4	85600267	85600267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtacaccaggcggctgttgCgcggcaggaggctgcccggg	6	5	18	12	4	0	0	0	0	0	0	0	1	0	1	2	6	3	5	2	6	1	2			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr4:85600267C>T	uc003hpd.3	-	64	10360	c.9952G>A	c.(9952-9954)Gca>Aca	p.A3318T	WDFY3_uc003hpc.3_Missense_Mutation_p.A73T	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	3318						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCGGCTGTTGCGCGGCAGGAG	0.582													26	35					0	0	0.0918	0	0	T	85600267	C	T	85600267	3	4	7	1	0	0	0	0	1	0	0	0	17267	768	27	1	644	1	WDFY3	4	85600267	Missense_Mutation	SNP	C	TCGA-CS-5393-01A-01D-1468-08		85600267	105554009	9	257											
RAPGEF2	9693	broad.mit.edu	37	chr4	160277114	160277114	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catccagccaggaaaccgccGgactacaacgtggcccttca	11	5	9	16	3	1	0	1	0	0	0	2	2	2	2	5	3	4	0	5	3	3	2			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr4:160277114G>A	uc003iqg.4	+	22	4588	c.4278G>A	c.(4276-4278)ccG>ccA	p.P1426P		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA.	1426					MAPKKK cascade|cAMP-mediated signaling|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|calcium ion binding|diacylglycerol binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GGAAACCGCCGGACTACAACG	0.612													10	19					0	0	0.069234	0	0	A	160277114	G	A	160277114	2	1	7	1	0	0	0	0	0	0	0	1	13044	1103	39	2		2	RAPGEF2	4	160277114	Silent	SNP	G	TCGA-CS-5393-01A-01D-1468-08	74676847	160277114	30877162	10	258											
PRDM9	56979	broad.mit.edu	37	chr5	23526956	23526956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtctgcagggagtgtgggCggggctttagctggcagtca	6	10	18	7	1	2	0	1	0	1	0	2	1	2	1	0	5	2	4	0	5	1	2			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr5:23526956C>T	uc003jgo.3	+	10	1941	c.1759C>T	c.(1759-1761)Cgg>Tgg	p.R587W		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	587					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.R587R(2)|p.R587W(2)|p.G586G(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGAGTGTGGGCGGGGCTTTAG	0.607										HNSCC(3;0.000094)			34	62					0	0	0.048971	0	0	T	23526956	C	T	23526956	3	4	7	1	0	0	0	0	1	0	0	0	12463	759	27	1	1797	1	PRDM9	5	23526956	Missense_Mutation	SNP	C	TCGA-CS-5393-01A-01D-1468-08		23526956	157388304	11	259											
TNXB	7148	broad.mit.edu	37	chr6	32039776	32039776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcccatctcacccgtctttgCctccacagagactgggctgc	6	9	9	17	1	2	1	1	0	2	1	4	2	3	1	4	1	2	1	4	1	0	1			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr6:32039776C>T	uc003nzl.2	-	12	5183	c.4981G>A	c.(4981-4983)Gca>Aca	p.A1661T		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1743	Fibronectin type-III 9.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCGTCTTTGCCTCCACAGAG	0.592													10	12					0	0	0.09319	0	0	T	32039776	C	T	32039776	3	4	7	1	0	0	0	0	1	0	0	0	16343	739	26	3	9860	3	TNXB	6	32039776	Missense_Mutation	SNP	C	TCGA-CS-5393-01A-01D-1468-08		32039776	139075291	12	260											
CLVS2	134829	broad.mit.edu	37	chr6	123332253	123332253	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtaacttcactttcaagcaAgcctctaaactcacaccaag	15	9	4	13	0	4	0	3	0	1	0	4	0	4	0	2	0	4	2	2	0	6	4			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr6:123332253A>G	uc003pzi.1	+	2	1382	c.513A>G	c.(511-513)caA>caG	p.Q171Q		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	171	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.Q171H(3)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						CTTTCAAGCAAGCCTCTAAAC	0.413													4	86					0	0	0.009096	0	0	G	123332253	A	G	123332253	2	3	7	1	0	0	0	0	0	0	0	1	3572	69	3	4		4	CLVS2	6	123332253	Silent	SNP	A	TCGA-CS-5393-01A-01D-1468-08	91292477	123332253	47782814	13	261											
PLEKHA8	84725	broad.mit.edu	37	chr7	30092391	30092391	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ataaatggtgaggaagaaatCctaatgaaaaataagaattc	21	9	8	3	0	0	4	0	2	0	2	2	5	1	5	1	2	0	0	1	2	9	4			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr7:30092391C>T	uc003taq.3	+	6	1107	c.705C>T	c.(703-705)atC>atT	p.I235I	PLEKHA8_uc022aba.1_Silent_p.I235I|PLEKHA8_uc003tan.3_Silent_p.I235I	NM_001197026	NP_001183955	Q96JA3	PKHA8_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 (PLEKHA8), transcript variant 1, mRNA.	235					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						AGGAAGAAATCCTAATGAAAA	0.308													21	106					0	0	0.055883	0	0	T	30092391	C	T	30092391	2	4	7	1	0	0	0	0	0	0	0	1	12062	845	30	3		3	PLEKHA8	7	30092391	Silent	SNP	C	TCGA-CS-5393-01A-01D-1468-08		30092391	129046272	14	262											
ZMIZ2	83637	broad.mit.edu	37	chr7	44805131	44805131	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggcgctgccccctttgcccCcctgcagcccccctcagtcc	2	7	8	24	2	1	0	1	0	0	0	2	0	2	0	9	1	4	2	9	1	0	1			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr7:44805131C>A	uc003tlr.3	+	15	2318	c.2195C>A	c.(2194-2196)cCc>cAc	p.P732H	ZMIZ2_uc003tlq.3_Missense_Mutation_p.P674H|ZMIZ2_uc003tls.3_Missense_Mutation_p.P706H|ZMIZ2_uc003tlt.3_Missense_Mutation_p.P355H|ZMIZ2_uc010kyj.3_Missense_Mutation_p.P254H|ZMIZ2_uc003tlu.3_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	732	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCTTTGCCCCCCTGCAGCCC	0.687													28	11					6.38683e-12	7.6642e-12	0.037714	1	0	A	44805131	C	A	44805131	3	1	7	1	0	0	0	0	1	0	0	0	17694	623	22	5	2253	5	ZMIZ2	7	44805131	Missense_Mutation	SNP	C	TCGA-CS-5393-01A-01D-1468-08	14712740	44805131	114333532	15	263											
ABCB4	5244	broad.mit.edu	37	chr7	87046828	87046828	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagccaacctggttcctgTggcctgggagagaaaaagca	13	7	12	9	0	0	1	0	0	0	1	1	3	1	2	4	3	3	2	4	3	5	2			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr7:87046828T>C	uc003uiv.1	-	20	2558	c.2482A>G	c.(2482-2484)Aca>Gca	p.T828A	ABCB4_uc003uiw.1_Missense_Mutation_p.T828A|ABCB4_uc003uix.1_Missense_Mutation_p.T828A	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	828	ABC transmembrane type-1 2.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CTGGTTCCTGTGGCCTGGGAG	0.428													18	43					0	0	0.049695	0	0	C	87046828	T	C	87046828	3	2	7	1	0	0	0	0	1	0	0	0	43	1696	59	3	1410	3	ABCB4	7	87046828	Missense_Mutation	SNP	T	TCGA-CS-5393-01A-01D-1468-08	42241697	87046828	72091835	16	264											
CSMD3	114788	broad.mit.edu	37	chr8	113304784	113304784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acctttgcacataggtggagGatggctccactgtctgttgg	7	12	13	9	0	1	0	0	0	1	0	2	2	2	2	2	5	1	3	2	5	1	3			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr8:113304784G>A	uc003ynu.3	-	54	8929	c.8770C>T	c.(8770-8772)Cct>Tct	p.P2924S	CSMD3_uc003yns.3_Missense_Mutation_p.P2126S|CSMD3_uc003ynt.3_Missense_Mutation_p.P2884S|CSMD3_uc011lhx.2_Missense_Mutation_p.P2755S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2924	Sushi 19.					integral to membrane|plasma membrane		p.P2924T(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAGGTGGAGGATGGCTCCAC	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			57	235					0	0	0.048971	0	0	A	113304784	G	A	113304784	3	1	7	1	0	0	0	0	1	0	0	0	3946	1174	41	3	2421	3	CSMD3	8	113304784	Missense_Mutation	SNP	G	TCGA-CS-5393-01A-01D-1468-08		113304784	33059238	17	265											
DENND4C	55667	broad.mit.edu	37	chr9	19346705	19346705	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaggaaaacagagagtctgGcatgactactgcatttattc	14	10	10	7	0	1	3	0	1	1	2	2	5	1	4	0	2	3	2	0	2	4	4			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr9:19346705G>T	uc003znq.3	+	17	3163	c.3083G>T	c.(3082-3084)gGc>gTc	p.G1028V	DENND4C_uc011lnc.2_Missense_Mutation_p.G358V|DENND4C_uc011lnd.2_Missense_Mutation_p.G316V|DENND4C_uc003znr.3_Missense_Mutation_p.G316V|DENND4C_uc003zns.3_Missense_Mutation_p.G210V|DENND4C_uc003znt.3_Missense_Mutation_p.G210V	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	Homo sapiens DENN/MADD domain containing 4C (DENND4C), mRNA.	1028						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AGAGAGTCTGGCATGACTACT	0.398													4	84					0.000602214	0.000688245	0.014758	1	0	T	19346705	G	T	19346705	3	4	7	1	0	0	0	0	1	0	0	0	4435	1203	42	5	3153	5	DENND4C	9	19346705	Missense_Mutation	SNP	G	TCGA-CS-5393-01A-01D-1468-08		19346705	121866726	18	266											
CELF2	10659	broad.mit.edu	37	chr10	11363181	11363181	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctctcaggtatggcggctCtgaatggaggacttggcgcc	6	10	15	10	2	2	1	1	1	2	0	3	3	2	3	1	6	1	3	1	6	2	2			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr10:11363181C>G	uc001ikk.2	+	11	1322	c.1162C>G	c.(1162-1164)Ctg>Gtg	p.L388V	CELF2_uc010qbj.1_Missense_Mutation_p.L369V|CELF2_uc001iki.4_Missense_Mutation_p.L363V|CELF2_uc001ikl.4_Missense_Mutation_p.L376V|CELF2_uc010qbl.1_Missense_Mutation_p.L339V|CELF2_uc010qbm.1_Missense_Mutation_p.L135V|CELF2_uc001iko.4_Missense_Mutation_p.L343V|CELF2_uc001ikp.4_Missense_Mutation_p.L345V|CELF2_uc010qbo.1_Missense_Mutation_p.L258V|CELF2_uc010qbp.1_Missense_Mutation_p.L135V	NM_001083591	NP_001077060	O95319	CELF2_HUMAN	Homo sapiens CUGBP, Elav-like family member 2 (CELF2), transcript variant 4, mRNA.	363	Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TATGGCGGCTCTGAATGGAGG	0.502													4	132					0	0	0.009096	0	0	G	11363181	C	G	11363181	3	3	7	1	0	0	0	0	1	0	0	0	3216	912	32	5	1237	5	CELF2	10	11363181	Missense_Mutation	SNP	C	TCGA-CS-5393-01A-01D-1468-08		11363181	124171566	19	267											
OR51F2	119694	broad.mit.edu	37	chr11	4843405	4843405	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacatcagtgctgtttccAtcttctacctccctctcatc	6	14	3	18	0	4	0	2	0	3	0	8	0	6	0	4	0	2	2	4	0	1	3			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr11:4843405A>G	uc010qyn.2	+	0	790	c.790A>G	c.(790-792)Atc>Gtc	p.I264V		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTGTTTCCATCTTCTACCT	0.478													27	49					0	0	0.0918	0	0	G	4843405	A	G	4843405	3	3	7	1	0	0	0	0	1	0	0	0	11097	217	8	3	792	3	OR51F2	11	4843405	Missense_Mutation	SNP	A	TCGA-CS-5393-01A-01D-1468-08		4843405	130163111	20	268											
CCDC82	79780	broad.mit.edu	37	chr11	96092275	96092275	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacattcctggtatagtttgAatttaaaatgtttcagttta	13	18	6	4	0	1	1	1	1	0	0	2	1	2	1	1	1	1	4	1	1	7	9			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr11:96092275A>T	uc001pfx.4	-	8	1662	c.1448T>A	c.(1447-1449)tTc>tAc	p.F483Y	CCDC82_uc009ywp.3_Missense_Mutation_p.F483Y|CCDC82_uc009ywr.3_Missense_Mutation_p.F483Y	NM_024725	NP_079001	Q8N4S0	CCD82_HUMAN	Homo sapiens coiled-coil domain containing 82 (CCDC82), mRNA.	483							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		GTATAGTTTGAATTTAAAATG	0.343													31	81					0	0	0.045705	0	0	T	96092275	A	T	96092275	3	4	7	1	0	0	0	0	1	0	0	0	2856	246	9	5	194	5	CCDC82	11	96092275	Missense_Mutation	SNP	A	TCGA-CS-5393-01A-01D-1468-08	91248870	96092275	38914241	21	269											
OR8B4	283162	broad.mit.edu	37	chr11	124293908	124293908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tattcctcaaactgtagatcGaagggttaagcatgggaacc	13	10	10	8	1	1	1	1	0	0	1	3	3	2	2	2	2	3	3	2	2	6	4			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr11:124293908G>A	uc010sak.2	-	0	860	c.860C>T	c.(859-861)tCg>tTg	p.S287L		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S287S(1)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ACTGTAGATCGAAGGGTTAAG	0.443													32	52					0	0	0.050027	0	0	A	124293908	G	A	124293908	3	1	7	1	0	0	0	0	1	0	0	0	11229	1059	37	2	71	2	OR8B4	11	124293908	Missense_Mutation	SNP	G	TCGA-CS-5393-01A-01D-1468-08	28201633	124293908	10712608	22	270											
FAM118B	79607	broad.mit.edu	37	chr11	126126563	126126563	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcccttttcttggaggctgtCaagcataaatctgacctaga	10	12	9	10	0	3	2	1	1	2	1	3	3	3	3	2	2	1	2	2	2	4	5			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr11:126126563C>G	uc009zca.3	+	7	1117	c.810C>G	c.(808-810)gtC>gtG	p.V270V	FAM118B_uc001qdf.3_Silent_p.V266V	NM_024556	NP_078832	Q9BPY3	F118B_HUMAN	Homo sapiens family with sequence similarity 118, member B (FAM118B), mRNA.	266										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		TGGAGGCTGTCAAGCATAAAT	0.448													41	53					0	0	0.09836	0	0	G	126126563	C	G	126126563	2	3	7	1	0	0	0	0	0	0	0	1	5412	813	29	5		5	FAM118B	11	126126563	Silent	SNP	C	TCGA-CS-5393-01A-01D-1468-08	1832655	126126563	8879953	23	271											
PRDM10	56980	broad.mit.edu	37	chr11	129784709	129784709	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaatccccttgtggcgttcGgtagtctgtcgttaaggtct	5	15	12	9	3	2	0	0	0	2	0	5	0	3	0	2	3	0	4	2	3	3	5			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr11:129784709G>A	uc001qfm.3	-	17	2975	c.2743C>T	c.(2743-2745)Cga>Tga	p.R915*	PRDM10_uc001qfj.3_Nonsense_Mutation_p.R829*|PRDM10_uc001qfk.3_Nonsense_Mutation_p.R825*|PRDM10_uc001qfl.3_Nonsense_Mutation_p.R829*|PRDM10_uc010sbx.2_Nonsense_Mutation_p.R825*|PRDM10_uc001qfn.3_Nonsense_Mutation_p.R911*|PRDM10_uc009zcs.1_Nonsense_Mutation_p.R98*	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	915	Thr-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TGTGGCGTTCGGTAGTCTGTC	0.552													11	325					0	0	0.080935	0	0	A	129784709	G	A	129784709	4	1	7	1	0	0	0	0	0	1	0	0	12451	1124	39	2	759	2	PRDM10	11	129784709	Nonsense_Mutation	SNP	G	TCGA-CS-5393-01A-01D-1468-08	3658146	129784709	5221807	24	272											
PYROXD1	79912	broad.mit.edu	37	chr12	21593340	21593340	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcggaagatattctcttggtAacagcttctcctgttattaa	10	16	7	8	1	2	1	0	0	2	1	5	2	2	2	1	2	2	3	1	2	5	7			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr12:21593340A>G	uc001rew.3	+	1	250	c.123A>G	c.(121-123)gtA>gtG	p.V41V	PYROXD1_uc009ziq.3_5'UTR	NM_024854	NP_079130	Q8WU10	PYRD1_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 1 (PYROXD1), mRNA.	41							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						TTCTCTTGGTAACAGCTTCTC	0.289													9	140					0	0	0.069234	0	0	G	21593340	A	G	21593340	2	3	7	1	0	0	0	0	0	0	0	1	12866	349	13	3		3	PYROXD1	12	21593340	Silent	SNP	A	TCGA-CS-5393-01A-01D-1468-08		21593340	112258555	25	273											
KRT6C	286887	broad.mit.edu	37	chr12	52865067	52865067	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgagatgtgggtctgcAtctgggacagctcctgcaga	7	11	14	9	0	3	2	0	1	3	2	4	4	4	3	1	2	3	3	1	2	0	0			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr12:52865067A>G	uc001sal.4	-	4	974	c.926T>C	c.(925-927)aTg>aCg	p.M309T		NM_173086	NP_775109	P48668	K2C6C_HUMAN	Homo sapiens keratin 6C (KRT6C), mRNA.	309	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GTGGGTCTGCATCTGGGACAG	0.507													45	85					0	0	0.048971	0	0	G	52865067	A	G	52865067	3	3	7	1	0	0	0	0	1	0	0	0	8482	217	8	3	788	3	KRT6C	12	52865067	Missense_Mutation	SNP	A	TCGA-CS-5393-01A-01D-1468-08	31271727	52865067	80986828	26	274											
DNAJC14	85406	broad.mit.edu	37	chr12	56217271	56217271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcctcctcagcccggggatGatgatttttgtcaggatgaa	8	11	13	9	1	2	3	2	3	0	0	3	5	3	5	3	4	1	0	3	4	1	2			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr12:56217271G>A	uc001shu.2	-	1	1485	c.1429C>T	c.(1429-1431)Cat>Tat	p.H477Y	DNAJC14_uc001shx.1_Missense_Mutation_p.H477Y|DNAJC14_uc009zob.1_Missense_Mutation_p.H477Y	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 14 (DNAJC14), mRNA.	477	J.				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						GCCCGGGGATGATGATTTTTG	0.443													3	80					0	0	0.009096	0	0	A	56217271	G	A	56217271	3	1	7	1	0	0	0	0	1	0	0	0	4633	1290	45	3	699	3	DNAJC14	12	56217271	Missense_Mutation	SNP	G	TCGA-CS-5393-01A-01D-1468-08	3352204	56217271	77634624	27	275											
OCA2	4948	broad.mit.edu	37	chr15	28235791	28235791	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgccagagttctgtgcacGatctggaaagaagcacagga	12	6	13	10	2	2	2	0	0	2	2	2	5	2	4	2	2	2	3	2	2	2	1			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr15:28235791G>A	uc001zbh.4	-	9	1157	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	OCA2_uc010ayv.3_Intron	NM_000275	NP_000266	Q04671	P_HUMAN	Homo sapiens oculocutaneous albinism II (OCA2), mRNA.	349					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	L-tyrosine transmembrane transporter activity|arsenite transmembrane transporter activity|citrate transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TTCTGTGCACGATCTGGAAAG	0.547									Oculocutaneous Albinism				5	167					0	0	0.014758	0	0	A	28235791	G	A	28235791	2	1	7	1	0	0	0	0	0	0	0	1	10815	1048	37	2		2	OCA2	15	28235791	Silent	SNP	G	TCGA-CS-5393-01A-01D-1468-08		28235791	74295601	28	276											
THBS1	7057	broad.mit.edu	37	chr15	39883403	39883403	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgcaggacaactgtccAttccattacaacccagctca	11	11	5	14	0	2	0	1	0	1	0	4	1	4	1	3	1	5	2	3	1	3	3			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr15:39883403A>G	uc001zkh.3	+	14	2444	c.2265A>G	c.(2263-2265)ccA>ccG	p.P755P	THBS1_uc010bbi.3_Silent_p.P227P	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	755					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	ACAACTGTCCATTCCATTACA	0.448													60	123					0	0	0.048971	0	0	G	39883403	A	G	39883403	2	3	7	1	0	0	0	0	0	0	0	1	15850	204	8	3		3	THBS1	15	39883403	Silent	SNP	A	TCGA-CS-5393-01A-01D-1468-08	11647612	39883403	62647989	29	277											
CCDC64B	146439	broad.mit.edu	37	chr16	3078744	3078744	+	Frame_Shift_Del	DEL	C	C	-																															tgagagggcactgtgcagggCctccccagggtcttcctgcg																										TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr16:3078744delC	uc002ctf.4	-	6	1240	c.1195delG	c.(1195-1197)gccfs	p.A399fs	CCDC64B_uc002cte.4_Frame_Shift_Del_p.A192fs	NM_001103175	NP_001096645	A1A5D9	BICR2_HUMAN	Homo sapiens coiled-coil domain containing 64B (CCDC64B), mRNA.	399										breast(1)|endometrium(2)|large_intestine(1)	4						CTGTGCAGGGCCTCCCCAGGG	0.667													2	4	---	---	---	---						-	3078744	C	-	3078744	7	5	7	1	0	1	0	1	0	0	0	0	2836	739	26	0	343	0	CCDC64B	16	3078744	Frame_Shift_Del	DEL	C	TCGA-CS-5393-01A-01D-1468-08		3078744	87276009	30	278											
IGSF6	10261	broad.mit.edu	37	chr16	21658638	21658638	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcctcacttttgcacccGtccaagcacaggttctcagg	7	11	8	15	1	3	0	2	0	2	0	5	0	4	0	3	2	3	3	3	2	1	3	rs1454374	byFrequency	TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr16:21658638G>T	uc002djg.2	-	1	311	c.243C>A	c.(241-243)gaC>gaA	p.D81E	LOC23117_uc021tel.1_Intron|METTL9_uc002dje.3_Intron|METTL9_uc002djf.3_Intron|IGSF6_uc010vbi.2_Missense_Mutation_p.D81E	NM_005849	NP_005840	O95976	IGSF6_HUMAN	Homo sapiens immunoglobulin superfamily, member 6 (IGSF6), mRNA.	81	Ig-like C2-type.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		TTTTGCACCCGTCCAAGCACA	0.512													53	68					1.86277e-20	2.29264e-20	0.048971	1	0	T	21658638	G	T	21658638	3	4	7	1	0	0	0	0	1	0	0	0	7603	1136	40	5	502	5	IGSF6	16	21658638	Missense_Mutation	SNP	G	TCGA-CS-5393-01A-01D-1468-08	18579894	21658638	68696115	31	279											
TK2	7084	broad.mit.edu	37	chr16	66551051	66551053	+	In_Frame_Del	DEL	CTT	CTT	-																															cctcttaccagcggaatgacCttctcctcttccctgcatct																										TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr16:66551051_66551053delCTT	uc002eos.3	-	7	955_957	c.604_606delAAG	c.(604-606)aagdel	p.K202del	TK2_uc021tjp.1_Non-coding_Transcript|TK2_uc010vip.2_In_Frame_Del_p.K105del|TK2_uc002eor.3_In_Frame_Del_p.K171del|TK2_uc010cdq.3_Intron|TK2_uc010viq.2_In_Frame_Del_p.K184del|TK2_uc010vir.2_In_Frame_Del_p.K177del|TK2_uc010cdr.3_In_Frame_Del_p.K153del	NM_004614	NP_004605	O00142	KITM_HUMAN	Homo sapiens thymidine kinase 2, mitochondrial (TK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	202					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		GCGGAATGACCTTCTCCTCTTCC	0.512											OREG0032067	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	10	485	---	---	---	---						-	66551053	CTT	-	66551051	7	5	7	1	0	1	0	1	0	0	0	0	15930	680	24	0	203	0	TK2	16	66551051	In_Frame_Del	DEL	CTT	TCGA-CS-5393-01A-01D-1468-08	44892413	66551051	23803702	32	280											
TP53	7157	broad.mit.edu	37	chr17	7577532	7577532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgtgatgatggtgaggatgGgcctccggttcatgccgccc	5	10	16	10	2	1	3	1	3	0	0	2	4	2	4	4	4	1	1	4	4	0	1			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr17:7577532G>A	uc002gim.2	-	6	943	c.749C>T	c.(748-750)cCc>cTc	p.P250L	TP53_uc002gig.1_Missense_Mutation_p.P250L|TP53_uc002gih.3_Missense_Mutation_p.P250L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.P118L|TP53_uc010cnf.1_Missense_Mutation_p.P118L|TP53_uc002gii.1_Missense_Mutation_p.P118L|TP53_uc010cni.1_Missense_Mutation_p.P250L|TP53_uc010cnh.1_Missense_Mutation_p.P250L|TP53_uc002gij.2_Missense_Mutation_p.P250L|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.P157L|TP53_uc002gio.2_Missense_Mutation_p.P118L|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.	250	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R249S(326)|p.P250L(86)|p.R249W(31)|p.R249M(31)|p.R249G(28)|p.R249K(16)|p.R249T(16)|p.P250S(12)|p.0?(8)|p.P250H(7)|p.P250F(6)|p.R249fs*96(6)|p.R249R(6)|p.?(5)|p.P250N(4)|p.M246_P250delMNRRP(4)|p.P250P(4)|p.P250_L252delPIL(4)|p.P250Q(4)|p.P250A(2)|p.N247_P250delNRRP(2)|p.R249fs*14(2)|p.R249_I251delRPI(2)|p.P250_T253delPILT(2)|p.R248_P250delRRP(2)|p.R249_T256delRPILTIIT(2)|p.R249_P250delRP(2)|p.P250_I251insXXXXXX(1)|p.R249fs*15(1)|p.P250T(1)|p.R249_P250insR(1)|p.N247_R249delNRR(1)|p.P250_I251insXXXXXXX(1)|p.I251fs*94(1)|p.R249_P250>SS(1)|p.P250_I251insX(1)|p.P250fs*14(1)|p.R249fs*19(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)		GGTGAGGATGGGCCTCCGGTT	0.577		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)			40	15					0	0	0.042209	0	0	A	7577532	G	A	7577532	3	1	7	1	0	0	0	0	1	0	0	0	16378	1232	43	3	541	3	TP53	17	7577532	Missense_Mutation	SNP	G	TCGA-CS-5393-01A-01D-1468-08		7577532	73617678	33	281											
KRT20	54474	broad.mit.edu	37	chr17	39034595	39034596	+	Frame_Shift_Del	DEL	AG	AG	-																															aacgggccttggtctcctctAgagtgtgctccaaagactct																										TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr17:39034595_39034596delAG	uc002hvl.3	-	5	998_999	c.940_941delCT	c.(940-942)ctafs	p.L314fs		NM_019010	NP_061883	P35900	K1C20_HUMAN	Homo sapiens keratin 20 (KRT20), mRNA.	314	Coil 2.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				GGTCTCCTCTAGAGTGTGCTCC	0.46													30	86	---	---	---	---						-	39034596	AG	-	39034595	7	5	7	1	0	1	0	1	0	0	0	0	8458	420	15	0	345	0	KRT20	17	39034595	Frame_Shift_Del	DEL	AG	TCGA-CS-5393-01A-01D-1468-08	31457063	39034595	42160615	34	282											
SMARCA4	6597	broad.mit.edu	37	chr19	11132435	11132435	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgattgtggacgaaggtcAccgcatgaagaaccaccact	13	7	10	11	2	1	3	1	2	0	1	1	5	1	4	3	2	1	1	3	2	3	1			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr19:11132435A>G	uc010dxp.3	+	19	3011	c.2651A>G	c.(2650-2652)cAc>cGc	p.H884R	SMARCA4_uc010dxo.3_Missense_Mutation_p.H884R|SMARCA4_uc002mqf.4_Missense_Mutation_p.H884R|SMARCA4_uc002mqg.1_Missense_Mutation_p.H884R|SMARCA4_uc010dxq.3_Missense_Mutation_p.H884R|SMARCA4_uc010dxr.3_Missense_Mutation_p.H884R|SMARCA4_uc002mqj.4_Missense_Mutation_p.H884R|SMARCA4_uc010dxs.3_Missense_Mutation_p.H884R|SMARCA4_uc010dxt.1_Missense_Mutation_p.H104R|SMARCA4_uc002mqh.4_Missense_Mutation_p.H7R|SMARCA4_uc002mqi.1_Missense_Mutation_p.H87R	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	884	Helicase ATP-binding.				chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.H884P(2)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GACGAAGGTCACCGCATGAAG	0.622			"F, N, Mis"		NSCLC								10	21					0	0	0.080935	0	0	G	11132435	A	G	11132435	3	3	7	1	0	0	0	0	1	0	0	0	14770	159	6	3	2721	3	SMARCA4	19	11132435	Missense_Mutation	SNP	A	TCGA-CS-5393-01A-01D-1468-08		11132435	47996548	35	283											
EPS8L1	54869	broad.mit.edu	37	chr19	55597452	55597452	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctggatgacagtcgtaagtgGtggaaggttcgggacccagc	9	8	16	8	2	0	1	0	1	0	0	2	4	0	4	1	5	1	2	1	5	2	2			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr19:55597452G>A	uc002qis.4	+	15	1646	c.1542G>A	c.(1540-1542)tgG>tgA	p.W514*	EPS8L1_uc010ess.1_Nonsense_Mutation_p.W528*|EPS8L1_uc010yfr.2_Nonsense_Mutation_p.W450*|EPS8L1_uc002qiu.3_Nonsense_Mutation_p.W387*|EPS8L1_uc002qiv.3_Nonsense_Mutation_p.W192*|EPS8L1_uc002qiw.3_Nonsense_Mutation_p.W293*	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA.	514	SH3.					cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GTCGTAAGTGGTGGAAGGTTC	0.622													5	85					0	0	0.014758	0	0	A	55597452	G	A	55597452	4	1	7	1	0	0	0	0	0	1	0	0	5195	1270	44	3	1652	3	EPS8L1	19	55597452	Nonsense_Mutation	SNP	G	TCGA-CS-5393-01A-01D-1468-08	44465017	55597452	3531531	36	284											
FAM123B	139285	broad.mit.edu	37	chrX	63411385	63411385	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtataggcctccctggcGtgggcctccctggcatgagc	5	8	14	14	2	0	1	0	1	0	0	2	2	2	1	4	4	1	2	4	4	2	2			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chrX:63411385G>A	uc022byb.1	-	0	1782	c.1782C>T	c.(1780-1782)caC>caT	p.H594H	FAM123B_uc004dvo.3_Silent_p.H594H	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	594					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)|p.A593S(1)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						CCTCCCTGGCGTGGGCCTCCC	0.612													3	38					0	0	0.004672	0	0	A	63411385	G	A	63411385	2	1	7	1	0	0	0	0	0	0	0	1	5423	1136	40	1		1	FAM123B	23	63411385	Silent	SNP	G	TCGA-CS-5393-01A-01D-1468-08		63411385	91859175	37	285											
RGAG1	57529	broad.mit.edu	37	chrX	109694416	109694416	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatcctctgaggcaatgTccacaccattaatgctagcc	10	11	6	14	0	2	1	1	1	1	0	4	1	4	1	4	1	2	2	4	1	3	3			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chrX:109694416T>C	uc004eor.2	+	2	817	c.571T>C	c.(571-573)Tcc>Ccc	p.S191P	RGAG1_uc011msr.1_Missense_Mutation_p.S191P	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	191										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGAGGCAATGTCCACACCATT	0.483													67	48					0	0	0.048971	0	0	C	109694416	T	C	109694416	3	2	7	1	0	0	0	0	1	0	0	0	13274	1667	58	3	573	3	RGAG1	23	109694416	Missense_Mutation	SNP	T	TCGA-CS-5393-01A-01D-1468-08	46283031	109694416	45576144	38	286											
FUBP1	8880	broad.mit.edu	37	chr1	78422352	78422352	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgagcgtaataagcagccCaagctgctgaatttggatcc	12	9	11	9	1	0	2	0	2	0	0	1	3	1	3	2	1	5	4	2	1	4	3			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr1:78422352C>T	uc001dii.3	-	16	1699	c.1610G>A	c.(1609-1611)tGg>tAg	p.W537*	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Nonsense_Mutation_p.W558*	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	537	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						ATAAGCAGCCCAAGCTGCTGA	0.458			"F, N"		oligodendroglioma								23	5					0	0	1	0	0	T	78422352	C	T	78422352	4	4	8	1	0	0	0	0	0	1	0	0	6092	595	21	3	340	3	FUBP1	1	78422352	Nonsense_Mutation	SNP	C	TCGA-CS-5394-01A-01D-1468-08		78422352	170828269	1	287											
TAGLN2	8407	broad.mit.edu	37	chr1	159890149	159890149	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgagccagttctggaagtTctcgcgtccaggctggggcc	5	10	14	12	2	2	1	0	1	2	0	4	2	3	2	3	4	1	3	3	4	1	3			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr1:159890149T>C	uc001fun.1	-	1	224	c.151A>G	c.(151-153)Aac>Gac	p.N51D	TAGLN2_uc010piy.1_Missense_Mutation_p.N51D	NM_003564	NP_003555	P37802	TAGL2_HUMAN	Homo sapiens transgelin 2 (TAGLN2), mRNA.	51	CH.				muscle organ development	nuclear membrane|plasma membrane	protein binding			endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTCTGGAAGTTCTCGCGTCCA	0.587													40	4					0	0	1	0	0	C	159890149	T	C	159890149	3	2	8	1	0	0	0	0	1	0	0	0	15536	1783	62	3	464	3	TAGLN2	1	159890149	Missense_Mutation	SNP	T	TCGA-CS-5394-01A-01D-1468-08	81467797	159890149	89360472	2	288											
TAF1B	9014	broad.mit.edu	37	chr2	10016065	10016065	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagaagggaatcgtgaagAtgaccatgccacagacactt	15	6	12	8	1	0	5	0	2	0	3	1	7	0	6	2	2	1	0	2	2	3	1			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr2:10016065A>G	uc002qzz.3	+	6	725	c.625A>G	c.(625-627)Atg>Gtg	p.M209V	TAF1B_uc010exc.2_Missense_Mutation_p.M209V|TAF1B_uc002qzy.4_Missense_Mutation_p.M209V|TAF1B_uc010yja.2_Intron|TAF1B_uc010exd.3_Intron	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa (TAF1B), mRNA.	209					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AATCGTGAAGATGACCATGCC	0.413													52	67					0	0	1	0	0	G	10016065	A	G	10016065	3	3	8	1	0	0	0	0	1	0	0	0	15517	333	12	3	651	3	TAF1B	2	10016065	Missense_Mutation	SNP	A	TCGA-CS-5394-01A-01D-1468-08		10016065	233183308	3	289											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								19	39					0	0	1	0	0	T	209113112	C	T	209113112	3	4	8	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CS-5394-01A-01D-1468-08	199097047	209113112	34086261	4	290											
PBRM1	55193	broad.mit.edu	37	chr3	52621372	52621372	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaatgagtttcttaccttGacaaacatgaccacacactt	13	14	4	10	0	1	3	0	3	1	0	1	3	1	3	2	0	2	1	2	0	3	6			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr3:52621372G>C	uc003des.2	-	18	3132	c.3120C>G	c.(3118-3120)gtC>gtG	p.V1040V	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Silent_p.V1040V|PBRM1_uc003der.2_Silent_p.V1008V|PBRM1_uc003det.2_Silent_p.V1055V|PBRM1_uc003deu.2_Silent_p.V1055V|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Silent_p.V1040V|PBRM1_uc010hmk.1_Silent_p.V1015V|PBRM1_uc003dey.2_Silent_p.V1015V|PBRM1_uc003dez.1_Silent_p.V1039V|PBRM1_uc003dfb.1_Silent_p.V952V|PBRM1_uc003dfa.1_Silent_p.V386V	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	1040	BAH 1.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTCTTACCTTGACAAACATGA	0.318			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								29	38					0	0	1	0	0	C	52621372	G	C	52621372	2	2	8	1	0	0	0	0	0	0	0	1	11491	1277	45	5		5	PBRM1	3	52621372	Silent	SNP	G	TCGA-CS-5394-01A-01D-1468-08		52621372	145401058	5	291											
PCDH10	57575	broad.mit.edu	37	chr4	134071550	134071553	+	Frame_Shift_Del	DEL	CAAA	CAAA	-																															atagaccgcgaacaaatctgCaaacagagcccctcctgtgt																										TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr4:134071550_134071553delCAAA	uc003iha.3	+	0	1081_1084	c.255_258delCAAA	c.(253-258)tgcaaafs	p.C85fs	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Frame_Shift_Del_p.C85fs	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	85	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.C85*(2)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AACAAATCTGCAAACAGAGCCCCT	0.549													30	72	---	---	---	---						-	134071553	CAAA	-	134071550	7	5	8	1	0	1	0	1	0	0	0	0	11507	718	25	0	257	0	PCDH10	4	134071550	Frame_Shift_Del	DEL	CAAA	TCGA-CS-5394-01A-01D-1468-08		134071550	57082726	6	292											
FSTL5	56884	broad.mit.edu	37	chr4	162841556	162841556	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggttcacccttcatttacCtttaaagaagcagtcttcat	12	14	5	10	0	4	1	3	0	1	1	4	1	4	1	2	1	2	2	2	1	5	7			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr4:162841556C>T	uc003iqh.3	-	4	845	c.409_splice	c.e4+1	p.G137_splice	FSTL5_uc003iqi.3_Splice_Site_p.G136_splice|FSTL5_uc010iqv.3_Splice_Site_p.G136_splice	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	137						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CTTCATTTACCTTTAAAGAAG	0.378													20	32					0	0	1	0	0	T	162841556	C	T	162841556	5	4	8	1	0	0	0	0	0	0	1	0	6080	695	24	3	2186	3	FSTL5	4	162841556	Splice_Site	SNP	C	TCGA-CS-5394-01A-01D-1468-08	28770006	162841556	28312720	7	293											
PIK3R1	5295	broad.mit.edu	37	chr5	67589586	67589591	+	In_Frame_Del	DEL	ATGAAT	ATGAAT	-																															agctgtagggaaaaaattacAtgaatataacactcagtttc																								rs17852841		TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr5:67589586_67589591delATGAAT	uc003jva.3	+	10	1929_1934	c.1349_1354delATGAAT	c.(1348-1356)catgaatat>cat	p.EY451del	PIK3R1_uc003jvc.3_In_Frame_Del_p.EY151del|PIK3R1_uc003jvd.3_In_Frame_Del_p.EY181del|PIK3R1_uc003jve.3_In_Frame_Del_p.EY130del|PIK3R1_uc021xzn.1_In_Frame_Del_p.EY88del|PIK3R1_uc011crb.2_In_Frame_Del_p.EY121del	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	451			E -> K (in dbSNP:rs17852841).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.H450_E451del(4)|p.G446_Y452>VI(2)|p.Y452N(2)|p.E451_Y452del(2)|p.D434_Q475del(2)|p.E451_Y452delEY(2)|p.Y152N(1)|p.Y452_Q455>SGGSRIK(1)|p.0?(1)|p.?(1)|p.Y182N(1)|p.N453_T454insN(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AAAAAATTACATGAATATAACACTCA	0.277			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			21	27	---	---	---	---						-	67589591	ATGAAT	-	67589586	7	5	8	1	0	1	0	1	0	0	0	0	11918	217	8	0	1517	0	PIK3R1	5	67589586	In_Frame_Del	DEL	ATGAAT	TCGA-CS-5394-01A-01D-1468-08		67589586	113325674	8	294											
GPR110	266977	broad.mit.edu	37	chr6	46976957	46976957	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggagtggtttgcttccattGgaccagttaagccaacacac	11	10	10	10	0	0	0	0	0	0	0	1	2	1	2	3	3	3	3	3	3	2	4			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr6:46976957G>C	uc003oyt.3	-	10	2413	c.2214C>G	c.(2212-2214)tcC>tcG	p.S738S	GPR110_uc011dwl.2_Silent_p.S426S	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	738					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TGCTTCCATTGGACCAGTTAA	0.478													4	69					0	0	1	0	0	C	46976957	G	C	46976957	2	2	8	1	0	0	0	0	0	0	0	1	6627	1335	47	5		5	GPR110	6	46976957	Silent	SNP	G	TCGA-CS-5394-01A-01D-1468-08		46976957	124138110	9	295											
PAX4	5078	broad.mit.edu	37	chr7	127255106	127255106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggctccaagacacctgtgCggtagtaacgccctaggatc	9	9	11	12	2	0	1	0	0	0	1	2	2	1	2	3	3	2	3	3	3	4	4			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr7:127255106C>T	uc010lld.1	-	1	370	c.164G>A	c.(163-165)cGc>cAc	p.R55H	PAX4_uc003vmf.2_Missense_Mutation_p.R53H|PAX4_uc003vmg.1_Missense_Mutation_p.R55H|PAX4_uc003vmh.3_Missense_Mutation_p.R53H	NM_006193	NP_006184	O43316	PAX4_HUMAN	Homo sapiens paired box 4 (PAX4), mRNA.	63	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GACACCTGTGCGGTAGTAACG	0.572													44	42					0	0	1	0	0	T	127255106	C	T	127255106	3	4	8	1	0	0	0	0	1	0	0	0	11481	768	27	1	899	1	PAX4	7	127255106	Missense_Mutation	SNP	C	TCGA-CS-5394-01A-01D-1468-08		127255106	31883557	10	296											
BHLHE22	27319	broad.mit.edu	37	chr8	65494037	65494038	+	In_Frame_Ins	INS	-	-	AGCAGC																															gcggcagcagcagcagcagcINSagcagcagcagcaagaaatc																										TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr8:65494037_65494038insAGCAGC	uc003xvi.3	+	0	1243_1244	c.690_691insAGCAGC	c.(688-693)insAGCAGC	p.234_235insSS	LOC401463_uc003xvh.3_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	Homo sapiens basic helix-loop-helix family, member e22 (BHLHE22), mRNA.	234	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.S234delS(1)		NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						gcagcagcagcagcagcagcag	0.698													3	4	---	---	---	---						AGCAGC	65494038	-	AGCAGC	65494037	7	5	8	1	0	1	1	0	0	0	0	0	1421	709	25	0	692	0	BHLHE22	8	65494037	In_Frame_Ins	INS	-	TCGA-CS-5394-01A-01D-1468-08		65494037	80869985	11	297											
HSPA5	3309	broad.mit.edu	37	chr9	128001229	128001229	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggaacataccatgttgagCtcttcaaatttggcccgagt	12	11	9	9	1	2	1	1	1	1	0	2	3	2	2	2	2	3	2	2	2	4	4			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr9:128001229C>T	uc004bpn.3	-	4	1248	c.987G>A	c.(985-987)gaG>gaA	p.E329E		NM_005347	NP_005338	P11021	GRP78_HUMAN	Homo sapiens heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) (HSPA5), mRNA.	329					ER-associated protein catabolic process|anti-apoptosis|cellular response to glucose starvation|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	CCATGTTGAGCTCTTCAAATT	0.418										Prostate(1;0.17)			4	65					0	0	1	0	0	T	128001229	C	T	128001229	2	4	8	1	0	0	0	0	0	0	0	1	7414	796	28	3		3	HSPA5	9	128001229	Silent	SNP	C	TCGA-CS-5394-01A-01D-1468-08		128001229	13212202	12	298											
ANGPTL2	23452	broad.mit.edu	37	chr9	129853996	129853996	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggtggtgaactgcttgccgTtgtgccatgtaaaggagtca	8	11	15	7	1	1	1	1	1	0	0	1	2	1	2	2	3	4	3	2	3	3	3			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr9:129853996T>C	uc004bqr.1	-	3	1735	c.1235A>G	c.(1234-1236)aAc>aGc	p.N412S	RALGPS1_uc022bno.1_Intron|RALGPS1_uc011mab.2_Intron|RALGPS1_uc011mac.2_Intron|RALGPS1_uc004bqo.2_Intron|RALGPS1_uc004bqq.4_Intron|ANGPTL2_uc010mxg.1_Missense_Mutation_p.N110S	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN	Homo sapiens angiopoietin-like 2 (ANGPTL2), mRNA.	412	Fibrinogen C-terminal.				multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						CTGCTTGCCGTTGTGCCATGT	0.537													109	129					0	0	1	0	0	C	129853996	T	C	129853996	3	2	8	1	0	0	0	0	1	0	0	0	614	1725	60	3	254	3	ANGPTL2	9	129853996	Missense_Mutation	SNP	T	TCGA-CS-5394-01A-01D-1468-08	1852767	129853996	11359435	13	299											
NCOA4	8031	broad.mit.edu	37	chr10	51579175	51579175	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaccagagtggcagctccAgtaatagagaaccccttttg	13	8	10	10	0	0	3	0	0	0	3	1	4	1	3	4	1	2	3	4	1	4	4			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr10:51579175A>C	uc001jis.4	+	1	237	c.34A>C	c.(34-36)Agt>Cgt	p.S12R	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|NCOA4_uc009xon.3_Missense_Mutation_p.S28R|NCOA4_uc010qhd.2_Missense_Mutation_p.S28R|NCOA4_uc010qhe.2_Intron|NCOA4_uc010qhf.2_Intron|NCOA4_uc001jit.3_Missense_Mutation_p.S12R|NCOA4_uc009xoo.3_Missense_Mutation_p.S12R	NM_001145263	NP_005428	Q13772	NCOA4_HUMAN	Homo sapiens nuclear receptor coactivator 4 (NCOA4), transcript variant 4, mRNA.	12					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						TGGCAGCTCCAGTAATAGAGA	0.408			T	RET	papillary thyroid								12	60					0	0	1	0	0	C	51579175	A	C	51579175	3	2	8	1	0	0	0	0	1	0	0	0	10231	188	7	5	88	5	NCOA4	10	51579175	Missense_Mutation	SNP	A	TCGA-CS-5394-01A-01D-1468-08		51579175	83955572	14	300											
HKDC1	80201	broad.mit.edu	37	chr10	71007297	71007297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggagaacaagaaggtggaaCggctccggaccacagtgggc	12	3	17	9	2	0	2	0	0	0	2	1	5	1	4	2	6	2	1	2	6	4	0			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr10:71007297C>T	uc001jpf.4	+	8	1346	c.1213C>T	c.(1213-1215)Cgg>Tgg	p.R405W	HKDC1_uc010qje.2_Missense_Mutation_p.R268W	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	405					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GAAGGTGGAACGGCTCCGGAC	0.612													17	35					0	0	1	0	0	T	71007297	C	T	71007297	3	4	8	1	0	0	0	0	1	0	0	0	7193	527	19	1	1247	1	HKDC1	10	71007297	Missense_Mutation	SNP	C	TCGA-CS-5394-01A-01D-1468-08	19428122	71007297	64527450	15	301											
ACTA2	59	broad.mit.edu	37	chr10	90708581	90708581	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgtctgggacgtcccacaAtggatgggaaaacagccctg	11	7	13	10	1	1	0	0	0	1	0	2	4	2	3	2	3	2	0	2	3	3	0			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr10:90708581A>G	uc001kfp.3	-	1	223	c.107T>C	c.(106-108)aTt>aCt	p.I36T	STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.2_Intron|ACTA2_uc001kfq.3_Missense_Mutation_p.I36T|ACTA2_uc010qmz.1_Missense_Mutation_p.I36T	NM_001613	NP_001604	P62736	ACTA_HUMAN	Homo sapiens actin, alpha 2, smooth muscle, aorta (ACTA2), transcript variant 2, mRNA.	36					response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		ACGTCCCACAATGGATGGGAA	0.502													57	55					0	0	1	0	0	G	90708581	A	G	90708581	3	3	8	1	0	0	0	0	1	0	0	0	192	101	4	3	1058	3	ACTA2	10	90708581	Missense_Mutation	SNP	A	TCGA-CS-5394-01A-01D-1468-08	19701284	90708581	44826166	16	302											
MEN1	4221	broad.mit.edu	37	chr11	64573758	64573758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagggcttcccgcacattgCggttgcgacagtggtagcca	7	8	14	12	3	0	0	0	0	0	0	1	1	1	0	2	3	3	5	2	3	1	4			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr11:64573758C>T	uc001obj.3	-	6	1083	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	MEN1_uc001obk.3_Missense_Mutation_p.R337H|MEN1_uc001obl.3_Missense_Mutation_p.R297H|MEN1_uc001obm.3_Missense_Mutation_p.R332H|MEN1_uc001obn.3_Missense_Mutation_p.R337H|MEN1_uc001obo.3_Missense_Mutation_p.R337H|MEN1_uc001obq.3_Missense_Mutation_p.R337H|MEN1_uc001obr.3_Missense_Mutation_p.R337H	NM_130800	NP_570716	O00255	MEN1_HUMAN	Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant e1B, mRNA.	337	Interaction with FANCD2.				DNA repair|MAPKKK cascade|histone lysine methylation|negative regulation of JNK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to UV|response to gamma radiation|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	R-SMAD binding|Y-form DNA binding|double-stranded DNA binding|four-way junction DNA binding|protein N-terminus binding|protein binding, bridging|transcription regulatory region DNA binding			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CCGCACATTGCGGTTGCGACA	0.602			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated		OREG0004014	type=REGULATORY REGION|Gene=MEN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	47	64					0	0	1	0	0	T	64573758	C	T	64573758	3	4	8	1	0	0	0	0	1	0	0	0	9472	768	27	1	853	1	MEN1	11	64573758	Missense_Mutation	SNP	C	TCGA-CS-5394-01A-01D-1468-08		64573758	70432758	17	303											
MTUS2	23281	broad.mit.edu	37	chr13	29600879	29600879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatgcctcttccccacgaaGagaaggcagcaggtggtgac	10	6	12	13	1	1	2	0	1	1	1	2	4	2	2	4	3	2	2	4	3	2	1			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr13:29600879G>A	uc001usl.4	+	0	2132	c.2074G>A	c.(2074-2076)Gag>Aag	p.E692K		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	682	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCCCCACGAAGAGAAGGCAGC	0.587													16	20					0	0	1	0	0	A	29600879	G	A	29600879	3	1	8	1	0	0	0	0	1	0	0	0	9966	943	33	3	2076	3	MTUS2	13	29600879	Missense_Mutation	SNP	G	TCGA-CS-5394-01A-01D-1468-08		29600879	85568999	18	304											
CPNE6	9362	broad.mit.edu	37	chr14	24543956	24543956	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccagctgggagccgttccgCctgtccctgcattccctatg	4	10	10	17	2	0	0	0	0	0	0	3	1	3	1	6	1	3	3	6	1	1	3	rs149746359		TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr14:24543956C>T	uc010tnv.2	+	7	935	c.789C>T	c.(787-789)cgC>cgT	p.R263R	CPNE6_uc001wlm.3_Silent_p.R33R|CPNE6_uc001wll.3_Silent_p.R208R|CPNE6_uc001wln.3_5'Flank	NM_006032	NP_006023	O95741	CPNE6_HUMAN	Homo sapiens copine VI (neuronal) (CPNE6), mRNA.	208					lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		AGCCGTTCCGCCTGTCCCTGC	0.552													3	25					0	0	1	0	0	T	24543956	C	T	24543956	2	4	8	1	0	0	0	0	0	0	0	1	3816	726	26	3		3	CPNE6	14	24543956	Silent	SNP	C	TCGA-CS-5394-01A-01D-1468-08		24543956	82805584	19	305											
AKAP6	9472	broad.mit.edu	37	chr14	33293788	33293788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagtgaaaaggaaagttccGgaaaaccaggtgaatctgga	17	6	12	6	1	1	2	0	2	1	0	2	5	2	5	2	4	1	1	2	4	6	1	rs140237441	byFrequency	TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr14:33293788G>A	uc001wrq.3	+	12	6939	c.6769G>A	c.(6769-6771)Gga>Aga	p.G2257R		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	2257					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	p.G2257R(2)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GGAAAGTTCCGGAAAACCAGG	0.438													27	35					0	0	1	0	0	A	33293788	G	A	33293788	3	1	8	1	0	0	0	0	1	0	0	0	455	1117	39	2	6815	2	AKAP6	14	33293788	Missense_Mutation	SNP	G	TCGA-CS-5394-01A-01D-1468-08	8749832	33293788	74055752	20	306											
JKAMP	51528	broad.mit.edu	37	chr14	59970666	59970666	+	Missense_Mutation	SNP	T	T	A																															aataatctccatttccagagTggataaacttgagcaagatt																										TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr14:59970666T>A	uc001xei.4	+	6	1356	c.854T>A	c.(853-855)gTg>gAg	p.V285E	JKAMP_uc001xef.4_Missense_Mutation_p.V271E|JKAMP_uc001xeh.4_Missense_Mutation_p.V265E|JKAMP_uc001xeg.4_Missense_Mutation_p.V279E|JKAMP_uc010try.2_Missense_Mutation_p.V208E|JKAMP_uc001xej.4_Missense_Mutation_p.V208E	NM_001098625	NP_001092095	Q9P055	JKAMP_HUMAN	Homo sapiens JNK1/MAPK8-associated membrane protein (JKAMP), transcript variant 2, mRNA.	286					ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						ATTTCCAGAGTGGATAAACTT	0.398													24	32					0	0	1	0	0	A	59970666	T	A	59970666	3	1	8	1	0	0	0	0	1	0	0	0	7949	1696	59	5	838	5	JKAMP	14	59970666	Missense_Mutation	SNP	T	TCGA-CS-5394-01A-01D-1468-08	26676878	59970666	47378874	21	307	1	2									
JKAMP	51528	broad.mit.edu	37	chr14	59970667	59970667	+	Silent	SNP	G	G	A																															ataatctccatttccagagtGgataaacttgagcaagattt																										TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr14:59970667G>A	uc001xei.4	+	6	1357	c.855G>A	c.(853-855)gtG>gtA	p.V285V	JKAMP_uc001xef.4_Silent_p.V271V|JKAMP_uc001xeh.4_Silent_p.V265V|JKAMP_uc001xeg.4_Silent_p.V279V|JKAMP_uc010try.2_Silent_p.V208V|JKAMP_uc001xej.4_Silent_p.V208V	NM_001098625	NP_001092095	Q9P055	JKAMP_HUMAN	Homo sapiens JNK1/MAPK8-associated membrane protein (JKAMP), transcript variant 2, mRNA.	286					ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						TTTCCAGAGTGGATAAACTTG	0.398													24	32					0	0	1	0	0	A	59970667	G	A	59970667	2	1	8	1	0	0	0	0	0	0	0	1	7949	1335	47	3		3	JKAMP	14	59970667	Silent	SNP	G	TCGA-CS-5394-01A-01D-1468-08	1	59970667	47378873	22	308	1	2									
RYR3	6263	broad.mit.edu	37	chr15	33822854	33822854	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcagttctcctgaggcactCtttcagcggaatggtaagca	9	11	11	10	1	3	1	1	1	2	0	4	2	3	2	1	3	3	5	1	3	2	3			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr15:33822854C>G	uc001zhi.3	+	3	411	c.341C>G	c.(340-342)tCt>tGt	p.S114C	RYR3_uc010bar.3_Missense_Mutation_p.S114C	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	114	MIR 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGAGGCACTCTTTCAGCGGA	0.512													7	10					0	0	1	0	0	G	33822854	C	G	33822854	3	3	8	1	0	0	0	0	1	0	0	0	13770	913	32	5	355	5	RYR3	15	33822854	Missense_Mutation	SNP	C	TCGA-CS-5394-01A-01D-1468-08		33822854	68708538	23	309											
MFAP1	4236	broad.mit.edu	37	chr15	44109449	44109449	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcttccacatcttcactaaTacggttctgtaaacgccgta	10	13	5	13	3	4	0	1	0	3	0	5	0	5	0	2	1	2	3	2	1	5	7			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr15:44109449T>C	uc001zth.1	-	1	461	c.277A>G	c.(277-279)Att>Gtt	p.I93V		NM_005926	NP_005917	P55081	MFAP1_HUMAN	Homo sapiens microfibrillar-associated protein 1 (MFAP1), mRNA.	93						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		TCTTCACTAATACGGTTCTGT	0.398													32	61					0	0	1	0	0	C	44109449	T	C	44109449	3	2	8	1	0	0	0	0	1	0	0	0	9513	1406	49	3	1074	3	MFAP1	15	44109449	Missense_Mutation	SNP	T	TCGA-CS-5394-01A-01D-1468-08	10286595	44109449	58421943	24	310											
APPBP2	10513	broad.mit.edu	37	chr17	58603215	58603215	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cggatgtctcggcgggagcgGatgtagttgtccacgacagc	7	8	16	10	5	1	0	0	0	1	0	3	4	2	3	1	4	2	2	1	4	1	2			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr17:58603215G>C	uc002iys.1	-	0	366	c.78C>G	c.(76-78)atC>atG	p.I26M	APPBP2_uc010ddl.1_5'UTR	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Homo sapiens amyloid beta precursor protein (cytoplasmic tail) binding protein 2 (APPBP2), mRNA.	26					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			GGCGGGAGCGGATGTAGTTGT	0.582													3	40					0	0	1	0	0	C	58603215	G	C	58603215	3	2	8	1	0	0	0	0	1	0	0	0	816	1164	41	5	1731	5	APPBP2	17	58603215	Missense_Mutation	SNP	G	TCGA-CS-5394-01A-01D-1468-08		58603215	22591995	25	311											
XAB2	56949	broad.mit.edu	37	chr19	7690779	7690779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catgcaccttctcgaaatggCcgctgcggatgtagtagtcg	8	10	12	11	4	1	0	0	0	1	0	3	2	1	1	2	2	2	4	2	2	3	3			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr19:7690779C>T	uc002mgx.3	-	5	835	c.809G>A	c.(808-810)gGc>gAc	p.G270D		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	Homo sapiens XPA binding protein 2 (XAB2), mRNA.	270					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CTCGAAATGGCCGCTGCGGAT	0.632								Direct reversal of damage;Nucleotide excision repair (NER)					3	34					0	0	1	0	0	T	7690779	C	T	7690779	3	4	8	1	0	0	0	0	1	0	0	0	17415	739	26	3	1814	3	XAB2	19	7690779	Missense_Mutation	SNP	C	TCGA-CS-5394-01A-01D-1468-08		7690779	51438204	26	312											
ZNF799	90576	broad.mit.edu	37	chr19	12491949	12491949	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgagtggcaataactgaaggTtttccaaaattgtttacgtg	12	13	10	6	2	0	1	0	1	0	0	1	2	1	1	1	2	2	3	1	2	6	6	rs11668955	by1000genomes	TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr19:12491949T>C	uc002mts.4	-	3	647	c.127A>G	c.(127-129)Acc>Gcc	p.T43A				Q96GE5	ZN799_HUMAN	Homo sapiens zinc finger protein 799 (ZNF799), mRNA.	149	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TAACTGAAGGTTTTCCAAAAT	0.403													3	38					0	0	1	0	0	C	12491949	T	C	12491949	3	2	8	1	0	0	0	0	1	0	0	0	18163	1740	60	3		3	ZNF799	19	12491949	Missense_Mutation	SNP	T	TCGA-CS-5394-01A-01D-1468-08	4801170	12491949	46637034	27	313											
CIC	23152	broad.mit.edu	37	chr19	42798786	42798787	+	Frame_Shift_Ins	INS	-	-	A																															gaggacgtgcttggggagctINSagagtatgacaaggtgccat																										TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr19:42798786_42798787insA	uc002otf.1	+	18	4398_4399	c.4358_4359insA	c.(4357-4359)ctafs	p.L1453fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CTTGGGGAGCTAGAGTATGACA	0.644			"Mis, F, S"		oligodendroglioma								25	14	---	---	---	---						A	42798787	-	A	42798786	7	5	8	1	0	1	1	0	0	0	0	0	3424	1522	53	0	4432	0	CIC	19	42798786	Frame_Shift_Ins	INS	-	TCGA-CS-5394-01A-01D-1468-08	30306837	42798786	16330197	28	314											
SULF2	55959	broad.mit.edu	37	chr20	46305256	46305256	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtcccagctgctcacaCgccgtctggtactcagcacg	7	8	9	17	3	3	0	2	0	1	0	4	0	4	0	3	1	4	4	3	1	1	1			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr20:46305256C>A	uc002xto.3	-	9	1692	c.1362G>T	c.(1360-1362)gcG>gcT	p.A454A	SULF2_uc002xtr.3_Silent_p.A454A|SULF2_uc002xtq.3_Silent_p.A454A	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	454					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding	p.T453M(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GCTGCTCACACGCCGTCTGGT	0.612													5	5					0.0215528	0.0218793	1	1	0	A	46305256	C	A	46305256	2	1	8	1	0	0	0	0	0	0	0	1	15370	523	19	5		5	SULF2	20	46305256	Silent	SNP	C	TCGA-CS-5394-01A-01D-1468-08		46305256	16720264	29	315											
LSM14B	149986	broad.mit.edu	37	chr20	60701373	60701373	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttcagtcttccctgggttCtgcctccgcctcgcccttcc	1	14	8	18	2	3	0	1	0	2	0	7	0	6	0	6	1	1	2	6	1	0	4			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr20:60701373C>G	uc010gjy.1	+	2	511	c.305C>G	c.(304-306)tCt>tGt	p.S102C	LSM14B_uc002ybt.2_Missense_Mutation_p.S102C|LSM14B_uc010gjx.1_Missense_Mutation_p.S128C|LSM14B_uc010gjz.1_5'UTR|LSM14B_uc010zzz.1_5'UTR	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	Homo sapiens LSM14B, SCD6 homolog B (S. cerevisiae) (LSM14B), mRNA.	102					multicellular organismal development|regulation of translation	ribonucleoprotein complex				endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			TCCCTGGGTTCTGCCTCCGCC	0.657													15	14					0	0	1	0	0	G	60701373	C	G	60701373	3	3	8	1	0	0	0	0	1	0	0	0	9055	913	32	5	315	5	LSM14B	20	60701373	Missense_Mutation	SNP	C	TCGA-CS-5394-01A-01D-1468-08	14396117	60701373	2324147	30	316											
PRIC285	85441	broad.mit.edu	37	chr20	62200696	62200696	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgccaggcaccacgtggcggTtgccagtgtgccagcgctcc	5	6	14	16	4	0	0	0	0	0	0	1	0	1	0	5	3	3	3	5	3	0	1			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr20:62200696T>C	uc002yfm.2	-	4	1785	c.893A>G	c.(892-894)aAc>aGc	p.N298S	PRIC285_uc002yfl.1_5'Flank	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	298					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			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)			CACGTGGCGGTTGCCAGTGTG	0.697													6	8					0	0	1	0	0	C	62200696	T	C	62200696	3	2	8	1	0	0	0	0	1	0	0	0	12485	1725	60	3	7143	3	PRIC285	20	62200696	Missense_Mutation	SNP	T	TCGA-CS-5394-01A-01D-1468-08	1499323	62200696	824824	31	317											
MED14	9282	broad.mit.edu	37	chrX	40572233	40572233	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggaacatcagggtcatcTcccatcacagtcaaggtggc	11	8	10	12	0	5	0	4	0	1	0	6	1	5	1	1	4	1	0	1	4	2	0			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chrX:40572233T>C	uc004dex.4	-	5	854	c.714A>G	c.(712-714)ggA>ggG	p.G238G	MED14_uc010nhe.1_Silent_p.G122G	NM_004229	NP_004220	O60244	MED14_HUMAN	Homo sapiens mediator complex subunit 14 (MED14), mRNA.	238	Interaction with STAT2.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGGGTCATCTCCCATCACAG	0.383													15	6					0	0	1	0	0	C	40572233	T	C	40572233	2	2	8	1	0	0	0	0	0	0	0	1	9432	1538	54	4		4	MED14	23	40572233	Silent	SNP	T	TCGA-CS-5394-01A-01D-1468-08		40572233	114698327	32	318											
USP24	23358	broad.mit.edu	37	chr1	55638164	55638164	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttcatgaatttcagtaccCcacttgtgaacagcacttga	11	12	6	12	0	2	3	2	3	0	0	2	3	2	3	3	0	3	2	3	0	3	5			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr1:55638164C>T	uc021onw.1	-	3	841	c.588G>A	c.(586-588)tgG>tgA	p.W196*	USP24_uc001cyg.4_Nonsense_Mutation_p.W78*	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	Homo sapiens ubiquitin specific peptidase 24 (USP24), mRNA.	196					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TTTCAGTACCCCACTTGTGAA	0.368													18	70					0	0	0.624587	0	0	T	55638164	C	T	55638164	4	4	9	1	0	0	0	0	0	1	0	0	17052	624	22	3	7534	3	USP24	1	55638164	Nonsense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08		55638164	193612457	1	319											
CD1A	909	broad.mit.edu	37	chr1	158226760	158226760	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggacatggtatctccgCgcaaccctggaggtggccgc	7	7	15	12	3	1	0	0	0	1	0	2	3	1	2	3	5	1	2	3	5	2	1			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr1:158226760C>T	uc001frt.3	+	3	1322	c.789C>T	c.(787-789)cgC>cgT	p.R263R	CD1A_uc021pbk.1_Non-coding_Transcript	NM_001763	NP_001754	P06126	CD1A_HUMAN	Homo sapiens CD1a molecule (CD1A), mRNA.	263	Ig-like.				antigen processing and presentation|immune response	MHC class I protein complex|endosome membrane|integral to plasma membrane		p.R263R(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GGTATCTCCGCGCAACCCTGG	0.632													66	95					0	0	0.870114	0	0	T	158226760	C	T	158226760	2	4	9	1	0	0	0	0	0	0	0	1	2974	755	27	1		1	CD1A	1	158226760	Silent	SNP	C	TCGA-CS-5395-01A-01D-1468-08	102588596	158226760	91023861	2	320											
LY9	4063	broad.mit.edu	37	chr1	160783596	160783596	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaggctccattcttaccGtctcccgaacaccatgtgac	9	10	8	14	2	2	1	0	1	2	0	4	3	3	2	4	2	2	1	4	2	2	2			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr1:160783596G>A	uc001fwu.3	+	2	675	c.625G>A	c.(625-627)Gtc>Atc	p.V209I	LY9_uc010pjs.1_Missense_Mutation_p.V209I|LY9_uc001fwv.3_Missense_Mutation_p.V209I|LY9_uc001fww.3_Missense_Mutation_p.V209I|LY9_uc001fwy.1_Missense_Mutation_p.V111I|LY9_uc001fwz.3_5'Flank	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	209	Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CATTCTTACCGTCTCCCGAAC	0.562													8	273					0	0	0.27861	0	0	A	160783596	G	A	160783596	3	1	9	1	0	0	0	0	1	0	0	0	9101	1145	40	1	767	1	LY9	1	160783596	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	2556836	160783596	88467025	3	321											
DDR2	4921	broad.mit.edu	37	chr1	162741843	162741843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgttgtgaagccagtccagCccagtggccctgagggggtg	6	8	17	10	0	0	2	0	2	0	0	1	2	1	2	4	3	2	1	4	3	1	1			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr1:162741843C>T	uc001gcf.3	+	13	1999	c.1534C>T	c.(1534-1536)Ccc>Tcc	p.P512S	DDR2_uc001gcg.3_Missense_Mutation_p.P512S	NM_001014796	NP_006173	Q16832	DDR2_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 2 (DDR2), transcript variant 1, mRNA.	512					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			GCCAGTCCAGCCCAGTGGCCC	0.577													11	16					0	0	0.411799	0	0	T	162741843	C	T	162741843	3	4	9	1	0	0	0	0	1	0	0	0	4337	739	26	3	1576	3	DDR2	1	162741843	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08	1958247	162741843	86508778	4	322											
OBSCN	84033	broad.mit.edu	37	chr1	228431148	228431148	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagggtctccttccgccTgcacatcacaggtgggtttc	6	10	11	14	1	2	1	1	0	1	1	5	1	3	1	4	3	1	2	4	3	0	2			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr1:228431148T>C	uc009xez.1	+	9	3238	c.3194T>C	c.(3193-3195)cTg>cCg	p.L1065P	OBSCN_uc001hsn.3_Missense_Mutation_p.L1065P	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1065	Ig-like 10.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCCTTCCGCCTGCACATCACA	0.547													11	16					0	0	0.361761	0	0	C	228431148	T	C	228431148	3	2	9	1	0	0	0	0	1	0	0	0	10812	1580	55	4	3228	4	OBSCN	1	228431148	Missense_Mutation	SNP	T	TCGA-CS-5395-01A-01D-1468-08	65689305	228431148	20819473	5	323											
SLC30A6	55676	broad.mit.edu	37	chr2	32422896	32422896	+	Splice_Site	DEL	G	G	-																															tatatgctcattgaaattaaGtgagtattttttattgttgt																										TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr2:32422896delG	uc002rof.2	+	11	845	c.785_splice	c.e11+1	p.N262_splice	SLC30A6_uc002roe.2_Splice_Site_p.N222_splice|SLC30A6_uc010ymw.2_Splice_Site_p.N193_splice|SLC30A6_uc010ezr.2_Splice_Site_p.N222_splice|SLC30A6_uc002rog.2_Splice_Site_p.N25_splice|SLC30A6_uc010ezs.2_Splice_Site_p.N148_splice|SLC30A6_uc002roh.2_Splice_Site_p.N25_splice	NM_001193513	NP_001180442	Q6NXT4	ZNT6_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 6 (SLC30A6), transcript variant 1, mRNA.	222						Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTGAAATTAAGTGAGTATTTT	0.373													47	92	---	---	---	---						-	32422896	G	-	32422896	8	5	9	1	0	1	0	1	0	0	1	0	14559	1043	36	0	704	0	SLC30A6	2	32422896	Splice_Site	DEL	G	TCGA-CS-5395-01A-01D-1468-08		32422896	210776477	6	324											
YSK4	80122	broad.mit.edu	37	chr2	135745373	135745373	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctcttcttcaggttttcGcgttttactaccatggcagt	5	18	8	10	2	3	0	1	0	2	0	5	0	3	0	1	2	2	4	1	2	2	8			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr2:135745373G>A	uc002tue.1	-	6	1100	c.1069C>T	c.(1069-1071)Cga>Tga	p.R357*	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Nonsense_Mutation_p.R244*|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Nonsense_Mutation_p.R85*|YSK4_uc002tui.4_Nonsense_Mutation_p.R374*	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	357							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCAGGTTTTCGCGTTTTACTA	0.378													50	69					0	0	0.870114	0	0	A	135745373	G	A	135745373	4	1	9	1	0	0	0	0	0	1	0	0	17492	1095	38	1	2933	1	YSK4	2	135745373	Nonsense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	103322477	135745373	107454000	7	325											
COL6A3	1293	broad.mit.edu	37	chr2	238249727	238249727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtccacatcgctccctgccGctctcctgtccctgaaggaa	6	10	8	17	2	1	1	0	1	1	0	6	2	4	2	5	1	1	2	5	1	2	0	rs114806654	by1000genomes	TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr2:238249727G>A	uc002vwl.2	-	37	8117	c.7832C>T	c.(7831-7833)gCg>gTg	p.A2611V	COL6A3_uc002vwo.2_Missense_Mutation_p.A2405V|COL6A3_uc010znj.1_Missense_Mutation_p.A2004V|COL6A3_uc002vwj.2_5'UTR	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2611	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.A2611E(2)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCTCCCTGCCGCTCTCCTGTC	0.512													76	118					0	0	0.870114	0	0	A	238249727	G	A	238249727	3	1	9	1	0	0	0	0	1	0	0	0	3701	1087	38	1	1729	1	COL6A3	2	238249727	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	102504354	238249727	4949646	8	326											
ATP2B2	491	broad.mit.edu	37	chr3	10452378	10452378	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaatctccaggatgatgagCgtcacgtcctgcagcgcctc	8	8	11	14	3	2	2	1	2	1	0	5	3	3	3	3	1	3	2	3	1	1	0			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr3:10452378C>T	uc003bvt.3	-	2	760	c.321G>A	c.(319-321)acG>acA	p.T107T	ATP2B2_uc003bvv.3_Silent_p.T107T|ATP2B2_uc003bvw.3_Silent_p.T107T|ATP2B2_uc010hdp.2_Silent_p.T107T|ATP2B2_uc010hdo.3_5'UTR	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	107					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GGATGATGAGCGTCACGTCCT	0.552													8	355					0	0	0.27861	0	0	T	10452378	C	T	10452378	2	4	9	1	0	0	0	0	0	0	0	1	1140	755	27	1		1	ATP2B2	3	10452378	Silent	SNP	C	TCGA-CS-5395-01A-01D-1468-08		10452378	187570052	9	327											
SEMA3F	6405	broad.mit.edu	37	chr3	50225347	50225347	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgccccgccacccccaggCgcaggccccccaacgcctcc	6	1	9	25	4	0	0	0	0	0	0	1	0	1	0	10	2	2	1	10	2	1	0			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr3:50225347C>T	uc003cyj.3	+	18	2355	c.2157C>T	c.(2155-2157)ggC>ggT	p.G719G	SEMA3F_uc003cyk.3_Silent_p.G688G	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA.	719					axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CACCCCCAGGCGCAGGCCCCC	0.667													10	10					0	0	0.361761	0	0	T	50225347	C	T	50225347	2	4	9	1	0	0	0	0	0	0	0	1	14029	755	27	1		1	SEMA3F	3	50225347	Silent	SNP	C	TCGA-CS-5395-01A-01D-1468-08	39772969	50225347	147797083	10	328											
PDE6B	5158	broad.mit.edu	37	chr4	647918	647918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggagagtcccagccgtactCgggcccacgcacgcctgatg	7	5	14	15	4	0	2	0	1	0	1	2	3	1	2	4	2	2	2	4	2	1	1			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr4:647918C>T	uc003gap.3	+	4	955	c.902C>T	c.(901-903)tCg>tTg	p.S301L	PDE6B_uc003gao.4_Missense_Mutation_p.S301L|PDE6B_uc011buy.2_Missense_Mutation_p.S22L|PDE6B_uc010ibg.2_Missense_Mutation_p.S22L|BC020343_uc003gaq.1_Non-coding_Transcript	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	301	GAF 2.				GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CAGCCGTACTCGGGCCCACGC	0.647													24	49					0	0	0.760397	0	0	T	647918	C	T	647918	3	4	9	1	0	0	0	0	1	0	0	0	11646	893	31	2	920	2	PDE6B	4	647918	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08		647918	190506358	11	329											
PITX2	5308	broad.mit.edu	37	chr4	111539762	111539762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatgagcccattgaactgcGgcccgaagccattcttgcat	9	9	10	13	2	1	2	0	2	1	0	1	3	1	2	3	1	5	2	3	1	2	3			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr4:111539762G>A	uc003iaf.3	-	6	2296	c.473C>T	c.(472-474)cCg>cTg	p.P158L	PITX2_uc003iac.3_Missense_Mutation_p.P165L|PITX2_uc003iad.3_Missense_Mutation_p.P158L|PITX2_uc021xqr.1_Missense_Mutation_p.P158L|PITX2_uc003iae.3_Missense_Mutation_p.P112L|PITX2_uc021xqs.1_Missense_Mutation_p.P112L	NM_001204397	NP_001191326	Q99697	PITX2_HUMAN	Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 4, mRNA.	158					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		ATTGAACTGCGGCCCGAAGCC	0.592													4	102					0	0	0.150653	0	0	A	111539762	G	A	111539762	3	1	9	1	0	0	0	0	1	0	0	0	11955	1116	39	2	484	2	PITX2	4	111539762	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	110891844	111539762	79614514	12	330											
EDNRA	1909	broad.mit.edu	37	chr4	148407184	148407184	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaggaatggccccaacgcGctgatagccagtcttgccct	9	8	11	13	2	1	2	0	2	1	0	1	3	1	3	4	2	3	1	4	2	3	2			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr4:148407184G>T	uc003iky.3	+	1	881	c.351G>T	c.(349-351)gcG>gcT	p.A117A	EDNRA_uc011cid.2_Intron|EDNRA_uc010ipg.2_Silent_p.A117A|EDNRA_uc010ipe.1_Silent_p.A117A|EDNRA_uc010ipf.1_Non-coding_Transcript	NM_001957	NP_001948	P25101	EDNRA_HUMAN	Homo sapiens endothelin receptor type A (EDNRA), transcript variant 1, mRNA.	117					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	GCCCCAACGCGCTGATAGCCA	0.423													70	91					2.08929e-35	2.3802e-35	0.870114	1	0	T	148407184	G	T	148407184	2	4	9	1	0	0	0	0	0	0	0	1	4919	1074	38	5		5	EDNRA	4	148407184	Silent	SNP	G	TCGA-CS-5395-01A-01D-1468-08	36867422	148407184	42747092	13	331											
TRIP13	9319	broad.mit.edu	37	chr5	908507	908507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccgaaatgcctgcagggCgggcaccgagccatcagatg	9	4	14	14	4	1	1	1	0	0	1	1	3	1	1	4	2	3	2	4	2	1	0			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr5:908507C>T	uc003jbr.3	+	8	942	c.797C>T	c.(796-798)gCg>gTg	p.A266V	TRIP13_uc010ite.2_Missense_Mutation_p.A266V	NM_004237	NP_004228	Q15645	PCH2_HUMAN	Homo sapiens thyroid hormone receptor interactor 13 (TRIP13), transcript variant 1, mRNA.	266					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity	p.A266S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			GCCTGCAGGGCGGGCACCGAG	0.562													46	69					0	0	0.870114	0	0	T	908507	C	T	908507	3	4	9	1	0	0	0	0	1	0	0	0	16554	768	27	1	831	1	TRIP13	5	908507	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08		908507	180006753	14	332											
CDH12	1010	broad.mit.edu	37	chr5	21817101	21817101	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatcctcatctgtgacgaTgtcaaacaaatttcccccat	11	13	5	12	1	3	1	2	1	1	0	5	2	5	1	3	0	1	1	3	0	3	2			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr5:21817101T>G	uc010iuc.2	-	5	1413	c.955A>C	c.(955-957)Atc>Ctc	p.I319L	CDH12_uc011cno.1_Missense_Mutation_p.I279L|CDH12_uc003jgk.2_Missense_Mutation_p.I319L	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	319	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCTGTGACGATGTCAAACAAA	0.348										HNSCC(59;0.17)			7	295					0	0	0.27861	0	0	G	21817101	T	G	21817101	3	3	9	1	0	0	0	0	1	0	0	0	3098	1464	51	5	1457	5	CDH12	5	21817101	Missense_Mutation	SNP	T	TCGA-CS-5395-01A-01D-1468-08	20908594	21817101	159098159	15	333											
TRPC7	57113	broad.mit.edu	37	chr5	135610458	135610458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagcgatagactgttgaCgtaagcctgagagattttca	12	11	10	8	2	2	4	2	2	0	2	2	6	2	4	1	0	2	2	1	0	2	5			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr5:135610458C>T	uc003lbn.2	-	3	1253	c.1031G>A	c.(1030-1032)cGt>cAt	p.R344H	TRPC7_uc010jef.2_Intron|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Intron|TRPC7_uc010jeh.2_Missense_Mutation_p.R283H|TRPC7_uc010jei.2_Intron	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	344					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	p.R344H(3)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGACTGTTGACGTAAGCCTGA	0.438													9	20					0	0	0.307466	0	0	T	135610458	C	T	135610458	3	4	9	1	0	0	0	0	1	0	0	0	16581	536	19	1	1593	1	TRPC7	5	135610458	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08	113793357	135610458	45304802	16	334											
PCDHGC5	56097	broad.mit.edu	37	chr5	140719281	140719281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttacacagcccgagtaccGcataagcattccggagaata	13	9	8	11	3	0	1	0	0	0	1	1	3	1	1	3	1	4	3	3	1	5	6			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr5:140719281G>A	uc003ljk.2	+	0	928	c.743G>A	c.(742-744)cGc>cAc	p.R248H	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.R248H	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	248	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R248H(1)|p.R248R(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGAGTACCGCATAAGCATT	0.557													4	152					0	0	0.150653	0	0	A	140719281	G	A	140719281	3	1	9	1	0	0	0	0	1	0	0	0	11571	1087	38	1		1	PCDHGC5	5	140719281	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	5108823	140719281	40195979	17	335											
ATP10B	23120	broad.mit.edu	37	chr5	160025790	160025790	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccttacctcagagttctggCcactcttgtatagctcaggc	7	13	8	13	0	4	1	2	0	2	1	5	1	5	1	3	2	2	3	3	2	3	5			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr5:160025790C>A	uc003lym.1	-	21	4398	c.3551G>T	c.(3550-3552)gGc>gTc	p.G1184V	ATP10B_uc010jit.1_Intron	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	1184					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAGTTCTGGCCACTCTTGTA	0.502													193	275					8.57144e-96	1.02857e-95	0.870114	1	0	A	160025790	C	A	160025790	3	1	9	1	0	0	0	0	1	0	0	0	1117	739	26	5	854	5	ATP10B	5	160025790	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08	19306509	160025790	20889470	18	336											
PKHD1	5314	broad.mit.edu	37	chr6	51613287	51613287	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggccagctgtgccaaacaCaatattgtcatttaaaagta	15	11	7	8	0	1	0	1	0	0	0	1	0	1	0	2	1	3	2	2	1	6	5			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr6:51613287C>A	uc003pah.1	-	57	9403	c.9127G>T	c.(9127-9129)Gtg>Ttg	p.V3043L	PKHD1_uc010jzn.1_Missense_Mutation_p.V1026L|PKHD1_uc003pai.3_Missense_Mutation_p.V3043L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3043					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)					GTGCCAAACACAATATTGTCA	0.493													46	45					1.76056e-25	1.98063e-25	0.859065	1	0	A	51613287	C	A	51613287	3	1	9	1	0	0	0	0	1	0	0	0	11971	478	17	5	3176	5	PKHD1	6	51613287	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08		51613287	119501780	19	337											
PKHD1	5314	broad.mit.edu	37	chr6	51892973	51892973	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccttgtgagtgaatgctgaCcccattgatagagacggaaa	12	9	11	9	1	0	5	0	4	0	1	0	7	0	6	3	1	1	1	3	1	3	3			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr6:51892973C>A	uc003pah.1	-	29	3817	c.3541G>T	c.(3541-3543)Gtc>Ttc	p.V1181F	PKHD1_uc003pai.3_Missense_Mutation_p.V1181F	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1181	IPT/TIG 6; atypical.				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)					TGAATGCTGACCCCATTGATA	0.498													124	212					8.80896e-55	1.02962e-54	0.870114	1	0	A	51892973	C	A	51892973	3	1	9	1	0	0	0	0	1	0	0	0	11971	507	18	5	8874	5	PKHD1	6	51892973	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08	279686	51892973	119222094	20	338											
PHF3	23469	broad.mit.edu	37	chr6	64422637	64422637	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagagtgacaatttaaaagTtgcacaaaactcaccatcag	17	8	7	9	0	2	2	2	1	0	1	2	2	2	2	1	0	2	3	1	0	5	3			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr6:64422637T>C	uc003pep.1	+	14	5178	c.5153T>C	c.(5152-5154)gTt>gCt	p.V1718A	PHF3_uc003pen.2_Missense_Mutation_p.V1630A|PHF3_uc011dxs.1_Missense_Mutation_p.V987A	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	1718					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AATTTAAAAGTTGCACAAAAC	0.368													3	100					0	0	0.115264	0	0	C	64422637	T	C	64422637	3	2	9	1	0	0	0	0	1	0	0	0	11836	1725	60	3	5211	3	PHF3	6	64422637	Missense_Mutation	SNP	T	TCGA-CS-5395-01A-01D-1468-08	12529664	64422637	106692430	21	339											
COL19A1	1310	broad.mit.edu	37	chr6	70866054	70866054	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgccaagccagtgtcccaggGctgaaaagcaacaaaggaga	15	4	12	10	0	0	2	0	1	0	1	1	3	1	2	3	2	4	2	3	2	5	0			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr6:70866054G>A	uc003pfc.1	+	31	2232	c.2115G>A	c.(2113-2115)ggG>ggA	p.G705G	COL19A1_uc010kam.2_Silent_p.G601G	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	705	Triple-helical region 4 (COL4).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GTGTCCCAGGGCTGAAAAGCA	0.473													39	48					0	0	0.847076	0	0	A	70866054	G	A	70866054	2	1	9	1	0	0	0	0	0	0	0	1	3676	1190	42	3		3	COL19A1	6	70866054	Silent	SNP	G	TCGA-CS-5395-01A-01D-1468-08	6443417	70866054	100249013	22	340											
CALN1	83698	broad.mit.edu	37	chr7	71252834	71252834	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaaggccatagcaaaggCgcatatgaggctcttccgga	12	7	13	9	2	1	2	0	2	1	0	2	4	2	3	2	4	1	3	2	4	4	3			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr7:71252834C>T	uc003twb.4	-	6	1103	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	CALN1_uc003twa.4_Missense_Mutation_p.A196T|CALN1_uc003twc.4_Missense_Mutation_p.A196T	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	196						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				ATAGCAAAGGCGCATATGAGG	0.567													27	80					0	0	0.681144	0	0	T	71252834	C	T	71252834	3	4	9	1	0	0	0	0	1	0	0	0	2591	768	27	1	77	1	CALN1	7	71252834	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08		71252834	87885829	23	341											
ADAM28	10863	broad.mit.edu	37	chr8	24200636	24200636	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcattaatgcagaatgtgTggatattgagaaagcctaca	14	12	10	5	0	0	2	0	1	0	2	0	4	0	3	1	1	4	2	1	1	5	5			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr8:24200636T>C	uc003xdy.3	+	16	1936	c.1853T>C	c.(1852-1854)gTg>gCg	p.V618A	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.V305A	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	618	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GCAGAATGTGTGGATATTGAG	0.383													3	90					0	0	0.150653	0	0	C	24200636	T	C	24200636	3	2	9	1	0	0	0	0	1	0	0	0	246	1696	59	3	1975	3	ADAM28	8	24200636	Missense_Mutation	SNP	T	TCGA-CS-5395-01A-01D-1468-08		24200636	122163386	24	342											
ADAM7	8756	broad.mit.edu	37	chr8	24346749	24346749	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattataagccaacatgcaTgctcaacattccatttcctt	12	13	5	11	0	1	0	1	0	0	0	3	1	3	1	3	1	5	2	3	1	4	5			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr8:24346749T>G	uc003xeb.3	+	11	1282	c.1169T>G	c.(1168-1170)aTg>aGg	p.M390R	ADAM7_uc003xec.3_Missense_Mutation_p.M162R	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	390	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CCAACATGCATGCTCAACATT	0.398													44	72					0	0	0.870114	0	0	G	24346749	T	G	24346749	3	3	9	1	0	0	0	0	1	0	0	0	251	1464	51	5	1215	5	ADAM7	8	24346749	Missense_Mutation	SNP	T	TCGA-CS-5395-01A-01D-1468-08	146113	24346749	122017273	25	343											
FER1L6	654463	broad.mit.edu	37	chr8	125094698	125094698	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgcagagccagtatgagAtgtaagttctttctccccgg	8	12	11	10	1	2	2	0	1	2	2	3	3	2	2	3	1	2	5	3	1	2	5			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr8:125094698A>T	uc003yqw.3	+	33	4597	c.4391_splice	c.e33+1	p.I1464_splice	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1464						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCAGTATGAGATGTAAGTTCT	0.512													62	103					0	0	0.870114	0	0	T	125094698	A	T	125094698	5	4	9	1	0	0	0	0	0	0	1	0	5815	347	12	5	4516	5	FER1L6	8	125094698	Splice_Site	SNP	A	TCGA-CS-5395-01A-01D-1468-08	100747949	125094698	21269324	26	344											
RFX3	5991	broad.mit.edu	37	chr9	3270522	3270522	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgactttctatttcactcagAttgctggtgtgaataaatgt	10	16	8	7	1	3	2	2	1	1	1	3	3	3	2	0	1	1	1	0	1	4	5			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr9:3270522A>T	uc003zhr.3	-	11	1518	c.1206T>A	c.(1204-1206)aaT>aaA	p.N402K	RFX3_uc010mhd.3_Missense_Mutation_p.N402K|RFX3_uc003zhs.1_Missense_Mutation_p.N402K	NM_134428	NP_602304	P48380	RFX3_HUMAN	Homo sapiens regulatory factor X, 3 (influences HLA class II expression) (RFX3), transcript variant 2, mRNA.	402					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TTTCACTCAGATTGCTGGTGT	0.348													3	73					0	0	0.150653	0	0	T	3270522	A	T	3270522	3	4	9	1	0	0	0	0	1	0	0	0	13264	330	12	5	1227	5	RFX3	9	3270522	Missense_Mutation	SNP	A	TCGA-CS-5395-01A-01D-1468-08		3270522	137942909	27	345											
TRPM6	140803	broad.mit.edu	37	chr9	77377508	77377508	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctggacagaggcaagacaGtttctgctgaaaaaggaact	14	8	12	7	0	2	3	0	1	2	2	2	5	2	5	0	3	2	3	0	3	4	1			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr9:77377508G>T	uc004ajl.1	-	25	4317	c.4079C>A	c.(4078-4080)aCt>aAt	p.T1360N	TRPM6_uc004ajk.1_Missense_Mutation_p.T1355N|TRPM6_uc022bib.1_Missense_Mutation_p.T1355N|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.T316N	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1360					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AGGCAAGACAGTTTCTGCTGA	0.507													104	160					4.80225e-73	5.68688e-73	0.870114	1	0	T	77377508	G	T	77377508	3	4	9	1	0	0	0	0	1	0	0	0	16587	1029	36	5	2045	5	TRPM6	9	77377508	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	74106986	77377508	63835923	28	346											
OR13C5	138799	broad.mit.edu	37	chr9	107361264	107361264	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatccaggacccagctgccAtgggtacataggcatcctta	10	9	10	12	0	0	1	0	1	0	0	2	2	2	2	4	3	3	3	4	3	3	3			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr9:107361264A>C	uc011lvp.2	-	0	431	c.431T>G	c.(430-432)aTg>aGg	p.M144R		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M144I(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CCCAGCTGCCATGGGTACATA	0.473													21	291					0	0	0.681144	0	0	C	107361264	A	C	107361264	3	2	9	1	0	0	0	0	1	0	0	0	10937	217	8	5	527	5	OR13C5	9	107361264	Missense_Mutation	SNP	A	TCGA-CS-5395-01A-01D-1468-08	29983756	107361264	33852167	29	347											
OR13C2	392376	broad.mit.edu	37	chr9	107367478	107367478	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatccaggacccagctgccAtgggtacataggcatcctta	10	9	10	12	0	0	1	0	1	0	0	2	2	2	2	4	3	3	3	4	3	3	3			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr9:107367478A>C	uc011lvq.2	-	0	431	c.431T>G	c.(430-432)aTg>aGg	p.M144R		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CCCAGCTGCCATGGGTACATA	0.468													32	99					0	0	0.847076	0	0	C	107367478	A	C	107367478	3	2	9	1	0	0	0	0	1	0	0	0	10934	217	8	5	528	5	OR13C2	9	107367478	Missense_Mutation	SNP	A	TCGA-CS-5395-01A-01D-1468-08	6214	107367478	33845953	30	348											
SVEP1	79987	broad.mit.edu	37	chr9	113217968	113217968	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcactcatcgatgtctGtttcacactttaagcctaca	9	13	7	12	1	3	0	2	0	1	0	4	1	3	0	1	1	3	3	1	1	2	4			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr9:113217968G>C	uc010mtz.3	-	21	4026	c.3689C>G	c.(3688-3690)aCa>aGa	p.T1230R	SVEP1_uc010mua.1_Missense_Mutation_p.T1230R	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1230					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATCGATGTCTGTTTCACACTT	0.418													20	33					0	0	0.608945	0	0	C	113217968	G	C	113217968	3	2	9	1	0	0	0	0	1	0	0	0	15417	1377	48	5	7134	5	SVEP1	9	113217968	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	5850490	113217968	27995463	31	349											
PTEN	5728	broad.mit.edu	37	chr10	89711899	89711899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactattcccagtcagaggCgctatgtgtattattatagc	11	14	8	8	1	1	1	1	0	0	1	2	1	2	1	1	1	2	2	1	1	7	8	rs121913293		TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr10:89711899C>T	uc001kfb.3	+	5	1549	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	173	Phosphatase tensin-type.		R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes).|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4).		T cell receptor signaling pathway|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 G1/S transition of mitotic cell cycle|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 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	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion 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.R173C(69)|p.0?(37)|p.R173H(24)|p.R55fs*1(5)|p.?(4)|p.R173fs*10(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.R172fs*5(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)|p.R173P(1)|p.R173R(1)|p.R172W(1)|p.R172R(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)		CAGTCAGAGGCGCTATGTGTA	0.348	R173C(REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			73	51					0	0	0.870114	0	0	T	89711899	C	T	89711899	3	4	9	1	0	0	0	0	1	0	0	0	12738	768	27	1	539	1	PTEN	10	89711899	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08		89711899	45822848	32	350											
C10orf46	143384	broad.mit.edu	37	chr10	120489879	120489879	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atggcaccatccaattttggCcagtatgtgctcttataatc	10	14	7	10	0	1	0	0	0	1	0	3	0	2	0	3	2	1	3	3	2	4	5			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr10:120489879C>T	uc001lds.1	-	1	895	c.411G>A	c.(409-411)tgG>tgA	p.W137*	C10orf46_uc010qst.1_Non-coding_Transcript	NM_153810	NP_722517	Q86Y37	CJ046_HUMAN	Homo sapiens chromosome 10 open reading frame 46 (C10orf46), mRNA.	137					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0131)		CCAATTTTGGCCAGTATGTGC	0.323													3	63					0	0	0.115264	0	0	T	120489879	C	T	120489879	4	4	9	1	0	0	0	0	0	1	0	0	1604	740	26	3	730	3	C10orf46	10	120489879	Nonsense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08	30777980	120489879	15044868	33	351											
NUP160	23279	broad.mit.edu	37	chr11	47809761	47809761	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagcccttcaaagactggcGttaagggaagcttaaaagtc	14	8	10	9	1	1	1	1	0	0	1	2	2	1	2	1	2	2	2	1	2	6	3			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr11:47809761G>A	uc001ngm.3	-	30	3804	c.3719C>T	c.(3718-3720)aCg>aTg	p.T1240M	NUP160_uc009ylw.3_Non-coding_Transcript|NUP160_uc021qiu.1_Missense_Mutation_p.T1240M	NM_015231	NP_056046	Q12769	NU160_HUMAN	Homo sapiens nucleoporin 160kDa (NUP160), mRNA.	1240					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol	nucleocytoplasmic transporter activity|protein binding	p.T1240M(2)		NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AAAGACTGGCGTTAAGGGAAG	0.398													28	45					0	0	0.729181	0	0	A	47809761	G	A	47809761	3	1	9	1	0	0	0	0	1	0	0	0	10757	1145	40	1	615	1	NUP160	11	47809761	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08		47809761	87196755	34	352											
VWF	7450	broad.mit.edu	37	chr12	6219737	6219737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acagccctttggaggcatagGgcatggagactctggagggc	9	7	16	9	0	1	1	0	0	1	1	1	4	1	3	1	6	1	2	1	6	1	2			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr12:6219737G>A	uc001qnn.1	-	4	585	c.335C>T	c.(334-336)cCc>cTc	p.P112L	VWF_uc010set.1_Missense_Mutation_p.P112L|VWF_uc001qno.1_Missense_Mutation_p.P149L	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	112	VWFD 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGAGGCATAGGGCATGGAGAC	0.537													4	136					0	0	0.150653	0	0	A	6219737	G	A	6219737	3	1	9	1	0	0	0	0	1	0	0	0	17243	1232	43	3	8298	3	VWF	12	6219737	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08		6219737	127632158	35	353											
PTPN11	5781	broad.mit.edu	37	chr12	112888199	112888199	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtatggaggggagaaatttgCcactttggctgagttggtcc	8	12	15	6	0	0	2	0	1	0	1	1	4	1	3	2	5	1	3	2	5	2	4	rs121918454		TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr12:112888199C>A	uc001ttx.3	+	2	595	c.215C>A	c.(214-216)gCc>gAc	p.A72D	PTPN11_uc001ttw.1_Missense_Mutation_p.A72D	NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	72	SH2 1.		A -> G (in NS1).|A -> S (in NS1).|A -> T (in JMML).|A -> V (in JMML).		T cell costimulation|axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.A72V(74)|p.A72T(33)|p.F71L(7)|p.A72D(6)|p.F71K(2)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GAGAAATTTGCCACTTTGGCT	0.418			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome				74	120					5.32961e-40	6.14955e-40	0.870114	1	0	A	112888199	C	A	112888199	3	1	9	1	0	0	0	0	1	0	0	0	12780	739	26	5	225	5	PTPN11	12	112888199	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08	106668462	112888199	20963696	36	354											
SUPT16H	11198	broad.mit.edu	37	chr14	21821703	21821703	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttccactctcttcttcactaCccaatgactccttagaatag	10	14	3	14	0	3	2	1	1	2	1	6	2	5	2	3	0	1	0	3	0	5	6			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr14:21821703C>T	uc001wao.2	-	24	3281	c.2942G>A	c.(2941-2943)gGt>gAt	p.G981D	SUPT16H_uc001wan.2_Missense_Mutation_p.G125D	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Homo sapiens suppressor of Ty 16 homolog (S. cerevisiae) (SUPT16H), mRNA.	981	Glu-rich (acidic).				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TTCTTCACTACCCAATGACTC	0.373													47	108					0	0	0.870114	0	0	T	21821703	C	T	21821703	3	4	9	1	0	0	0	0	1	0	0	0	15393	507	18	3	209	3	SUPT16H	14	21821703	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08		21821703	85527837	37	355											
C14orf182	283551	broad.mit.edu	37	chr14	50472373	50472373	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagacgaaatgtctgtgtcGtagaactgtgtgtgatcttg	10	13	13	5	2	2	3	0	1	2	2	3	5	2	3	0	0	1	1	0	0	4	2			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr14:50472373G>A	uc001wxi.1	-	0	1866	c.145C>T	c.(145-147)Cga>Tga	p.R49*		NM_001012706	NP_001012724	A1A4T8	CN182_HUMAN	Homo sapiens chromosome 14 open reading frame 182 (C14orf182), mRNA.	49								p.R49*(2)		large_intestine(2)|urinary_tract(1)	3						TGTCTGTGTCGTAGAACTGTG	0.527													6	288					0	0	0.217242	0	0	A	50472373	G	A	50472373	4	1	9	1	0	0	0	0	0	1	0	0	1765	1153	40	1	190	1	C14orf182	14	50472373	Nonsense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	28650670	50472373	56877167	38	356											
SIPA1L1	26037	broad.mit.edu	37	chr14	72138006	72138006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccatggcaactcggacccGccaggaatacctgaaagatc	12	5	11	13	2	0	2	0	1	0	1	2	4	0	4	4	4	2	1	4	4	4	1			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr14:72138006G>A	uc001xms.3	+	7	2787	c.2426G>A	c.(2425-2427)cGc>cAc	p.R809H	SIPA1L1_uc001xmt.3_Missense_Mutation_p.R809H|SIPA1L1_uc001xmu.3_Missense_Mutation_p.R809H|SIPA1L1_uc001xmv.3_Missense_Mutation_p.R809H|SIPA1L1_uc010ttm.2_Missense_Mutation_p.R284H	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	809	Rap-GAP.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACTCGGACCCGCCAGGAATAC	0.473													29	49					0	0	0.750413	0	0	A	72138006	G	A	72138006	3	1	9	1	0	0	0	0	1	0	0	0	14329	1087	38	1	2452	1	SIPA1L1	14	72138006	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	21665633	72138006	35211534	39	357											
C15orf2	23742	broad.mit.edu	37	chr15	24921561	24921561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaccccccttagcagcGgagaagcatcgtccacatcc	12	5	9	15	2	0	1	0	0	0	1	3	3	2	2	5	2	3	2	5	2	3	1	rs151186438	byFrequency	TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr15:24921561G>A	uc001ywo.3	+	0	1021	c.547G>A	c.(547-549)Gga>Aga	p.G183R		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	183					cell differentiation|multicellular organismal development|spermatogenesis			p.S182S(1)|p.G183V(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCTTAGCAGCGGAGAAGCATC	0.597													20	27					0	0	0.575678	0	0	A	24921561	G	A	24921561	3	1	9	1	0	0	0	0	1	0	0	0	1784	1117	39	2	549	2	C15orf2	15	24921561	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08		24921561	77609831	40	358											
ATP8B4	79895	broad.mit.edu	37	chr15	50288937	50288937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtaactgatagtgcatggcGgacttttaggttcgtttccc	8	14	11	8	2	0	1	0	1	0	0	2	2	1	2	1	3	2	4	1	3	3	6	rs116334504	by1000genomes	TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr15:50288937G>A	uc001zxu.3	-	8	668	c.526C>T	c.(526-528)Cgc>Tgc	p.R176C	ATP8B4_uc010ber.3_Missense_Mutation_p.R49C|ATP8B4_uc010ufd.2_Missense_Mutation_p.R49C|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	176					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AGTGCATGGCGGACTTTTAGG	0.398													22	44					0	0	0.639603	0	0	A	50288937	G	A	50288937	3	1	9	1	0	0	0	0	1	0	0	0	1197	1116	39	2	3132	2	ATP8B4	15	50288937	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	25367376	50288937	52242455	41	359											
CSPG4	1464	broad.mit.edu	37	chr15	75981730	75981730	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcaccatgaggctgccaTgtgggaagatgatgtggggt	9	9	17	6	0	1	3	1	2	0	1	1	5	1	5	2	5	1	1	2	5	1	0			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr15:75981730T>C	uc002baw.3	-	2	1769	c.1676A>G	c.(1675-1677)cAt>cGt	p.H559R		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	559	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GAGGCTGCCATGTGGGAAGAT	0.612													3	56					0	0	0.150653	0	0	C	75981730	T	C	75981730	3	2	9	1	0	0	0	0	1	0	0	0	3960	1464	51	3	5324	3	CSPG4	15	75981730	Missense_Mutation	SNP	T	TCGA-CS-5395-01A-01D-1468-08	25692793	75981730	26549662	42	360											
TMEM170A	124491	broad.mit.edu	37	chr16	75481522	75481522	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtctgtccagtgcccagTgtgagggcttcaaatggtat	9	12	12	8	0	2	1	1	1	1	0	3	1	3	1	2	2	1	2	2	2	3	2			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr16:75481522T>G	uc002fee.1	-	2	455	c.369A>C	c.(367-369)acA>acC	p.T123T	TMEM170A_uc002feb.3_Silent_p.T85T|TMEM170A_uc002fec.3_Silent_p.T100T|TMEM170A_uc002fed.1_Non-coding_Transcript	NM_145254	NP_660297	Q8WVE7	T170A_HUMAN	Homo sapiens transmembrane protein 170A (TMEM170A), mRNA.	123						integral to membrane				endometrium(1)	1						CAGTGCCCAGTGTGAGGGCTT	0.408													65	113					0	0	0.870114	0	0	G	75481522	T	G	75481522	2	3	9	1	0	0	0	0	0	0	0	1	16083	1683	59	5		5	TMEM170A	16	75481522	Silent	SNP	T	TCGA-CS-5395-01A-01D-1468-08		75481522	14873231	43	361											
KRT28	162605	broad.mit.edu	37	chr17	38955859	38955859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatccaggtaggatgccaagCggtcattaagattttgcatg	11	12	11	7	1	1	1	1	0	0	1	2	2	2	2	2	3	3	2	2	3	4	5			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr17:38955859C>T	uc002hvh.1	-	0	353	c.287G>A	c.(286-288)cGc>cAc	p.R96H		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	Homo sapiens keratin 28 (KRT28), mRNA.	96	Coil 1A.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				GGATGCCAAGCGGTCATTAAG	0.478													6	175					0	0	0.217242	0	0	T	38955859	C	T	38955859	3	4	9	1	0	0	0	0	1	0	0	0	8465	768	27	1	1139	1	KRT28	17	38955859	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08		38955859	42239351	44	362											
CARD14	79092	broad.mit.edu	37	chr17	78171904	78171904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttcctcccagaccttcCgcagctggaaagcagcctgc	7	8	10	16	1	0	1	0	0	0	1	3	2	3	2	5	2	4	4	5	2	1	2			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr17:78171904C>T	uc002jxw.1	+	11	1795	c.1601C>T	c.(1600-1602)cCg>cTg	p.P534L	CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.3_Missense_Mutation_p.P534L|CARD14_uc010wud.1_Non-coding_Transcript|CARD14_uc002jxx.3_Missense_Mutation_p.P297L	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA.	534					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCAGACCTTCCGCAGCTGGAA	0.592													27	104					0	0	0.717897	0	0	T	78171904	C	T	78171904	3	4	9	1	0	0	0	0	1	0	0	0	2646	652	23	2	1643	2	CARD14	17	78171904	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08	39216045	78171904	3023306	45	363											
LAMA1	284217	broad.mit.edu	37	chr18	6961754	6961754	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaagctaacactccggAtgggctggacacagaggaga	13	5	14	9	1	1	2	1	0	0	2	2	6	2	5	1	5	2	2	1	5	2	1			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr18:6961754A>G	uc002knm.3	-	52	7551	c.7457T>C	c.(7456-7458)aTc>aCc	p.I2486T	LAMA1_uc002knl.3_Intron|LAMA1_uc010wzj.2_Missense_Mutation_p.I1962T	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2486	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.P2485P(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AACACTCCGGATGGGCTGGAC	0.517													14	27					0	0	0.457914	0	0	G	6961754	A	G	6961754	3	3	9	1	0	0	0	0	1	0	0	0	8605	333	12	3	1814	3	LAMA1	18	6961754	Missense_Mutation	SNP	A	TCGA-CS-5395-01A-01D-1468-08		6961754	71115494	46	364											
LRRC8E	80131	broad.mit.edu	37	chr19	7964897	7964897	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcaaatgcgaggagctccGcgaggtgccgctttgggtgt	6	9	16	10	5	1	0	1	0	0	0	2	3	2	1	2	3	3	2	2	3	1	1			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr19:7964897G>A	uc002mir.3	+	2	1591	c.1490G>A	c.(1489-1491)cGc>cAc	p.R497H		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member E (LRRC8E), mRNA.	497						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						GAGGAGCTCCGCGAGGTGCCG	0.657													10	20					0	0	0.38729	0	0	A	7964897	G	A	7964897	3	1	9	1	0	0	0	0	1	0	0	0	9025	1087	38	1	1496	1	LRRC8E	19	7964897	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08		7964897	51164086	47	365											
ZNF229	7772	broad.mit.edu	37	chr19	44933647	44933647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagaagcctttgccacactCgctgcaggtgtagggcttct	8	10	11	12	1	1	1	0	0	1	1	2	1	1	1	2	2	3	4	2	2	2	3			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr19:44933647C>T	uc002oze.1	-	5	1743	c.1309G>A	c.(1309-1311)Gag>Aag	p.E437K	ZNF229_uc010ejk.1_Missense_Mutation_p.E91K|ZNF229_uc010ejl.1_Missense_Mutation_p.E431K	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TTGCCACACTCGCTGCAGGTG	0.537													31	59					0	0	0.717897	0	0	T	44933647	C	T	44933647	3	4	9	1	0	0	0	0	1	0	0	0	17779	893	31	2	1172	2	ZNF229	19	44933647	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08	36968750	44933647	14195336	48	366											
HIF3A	64344	broad.mit.edu	37	chr19	46800337	46800337	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcggcgactggcgagccatgGcgctggggctgcagcgcgca	5	4	19	13	6	0	0	0	0	0	0	0	2	0	0	1	5	3	4	1	5	0	0			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr19:46800337G>A	uc002peh.3	+	0	35	c.4G>A	c.(4-6)Gcg>Acg	p.A2T	HIF3A_uc002pef.2_Missense_Mutation_p.A2T|HIF3A_uc002peg.4_Missense_Mutation_p.A2T|HIF3A_uc010xxx.2_5'Flank|HIF3A_uc021uwf.1_5'Flank|HIF3A_uc002pej.2_5'Flank|HIF3A_uc010xxy.2_5'Flank	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GCGAGCCATGGCGCTGGGGCT	0.716													12	19					0	0	0.457914	0	0	A	46800337	G	A	46800337	3	1	9	1	0	0	0	0	1	0	0	0	7105	1203	42	3	6	3	HIF3A	19	46800337	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	1866690	46800337	12328646	49	367											
ANKRD5	63926	broad.mit.edu	37	chr20	10030224	10030224	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgattggtccgtagaacGtgaggctttcctccgggaag	8	9	14	10	4	0	2	0	1	0	1	3	4	3	3	3	3	1	3	3	3	3	3			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr20:10030224G>A	uc002wno.3	+	6	1400	c.1007G>A	c.(1006-1008)cGt>cAt	p.R336H	LOC100131208_uc002wnn.2_Intron|ANKRD5_uc002wnp.3_Missense_Mutation_p.R336H|ANKRD5_uc010gbz.3_Missense_Mutation_p.R147H	NM_022096	NP_942093	Q9NU02	ANKR5_HUMAN	Homo sapiens ankyrin repeat domain 5 (ANKRD5), transcript variant 1, mRNA.	336	EF-hand.						calcium ion binding			breast(2)|endometrium(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	37						TCCGTAGAACGTGAGGCTTTC	0.512													44	99					0	0	0.859065	0	0	A	10030224	G	A	10030224	3	1	9	1	0	0	0	0	1	0	0	0	676	1145	40	1	1025	1	ANKRD5	20	10030224	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08		10030224	52995296	50	368											
PCSK2	5126	broad.mit.edu	37	chr20	17410117	17410117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagaagtttctgctgccGccaacaacaatatctgtgga	12	9	10	10	1	2	1	0	0	2	1	2	3	2	2	2	2	4	2	2	2	5	2			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr20:17410117G>A	uc002wpm.3	+	6	1012	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	PCSK2_uc002wpl.3_Missense_Mutation_p.A201T|PCSK2_uc010zrm.2_Missense_Mutation_p.A185T	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	220	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)	TTCTGCTGCCGCCAACAACAA	0.473													105	267					0	0	0.870114	0	0	A	17410117	G	A	17410117	3	1	9	1	0	0	0	0	1	0	0	0	11601	1087	38	1	684	1	PCSK2	20	17410117	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	7379893	17410117	45615403	51	369											
PLCG1	5335	broad.mit.edu	37	chr20	39802386	39802387	+	In_Frame_Ins	INS	-	-	GAAGAA																															tgcgcttcgtggtgtatgagINSgaagacatgtttagtgacca																										TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr20:39802386_39802387insGAAGAA	uc002xjp.1	+	28	3610_3611	c.3489_3490insGAAGAA	c.(3487-3492)insGAAGAA	p.1163_1164insEE	PLCG1_uc002xjo.1_In_Frame_Ins_p.1163_1164insEE|PLCG1_uc010zwe.1_In_Frame_Ins_p.828_829insEE	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	1163	C2.				T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TGGTGTATGAGGAAGACATGTT	0.515											OREG0025953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	47	231	---	---	---	---						GAAGAA	39802387	-	GAAGAA	39802386	7	5	9	1	0	1	1	0	0	0	0	0	12035	991	35	0	3603	0	PLCG1	20	39802386	In_Frame_Ins	INS	-	TCGA-CS-5395-01A-01D-1468-08	22392269	39802386	23223134	52	370											
RGN	9104	broad.mit.edu	37	chrX	46943843	46943843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtcagctccgtggctcttCgccagtcgggaggctatgtt	5	11	13	12	3	2	0	1	0	1	0	5	1	3	1	2	3	1	4	2	3	1	3			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chrX:46943843C>T	uc004dgz.1	+	3	1159	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C	RGN_uc004dha.1_Missense_Mutation_p.R64C|RGN_uc010nho.1_Missense_Mutation_p.R11C|RGN_uc010nhp.1_Missense_Mutation_p.R64C	NM_152869	NP_690608	Q15493	RGN_HUMAN	Homo sapiens regucalcin (senescence marker protein-30) (RGN), transcript variant 2, mRNA.	64					cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						CGTGGCTCTTCGCCAGTCGGG	0.493													16	4					0	0	0.539581	0	0	T	46943843	C	T	46943843	3	4	9	1	0	0	0	0	1	0	0	0	13282	884	31	2	196	2	RGN	23	46943843	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08		46943843	108326717	53	371											
SLC25A5	292	broad.mit.edu	37	chrX	118603962	118603962	+	Frame_Shift_Del	DEL	T	T	-																															gatgtgggtaaagctggagcTgaaagggaattccgaggcct																										TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chrX:118603962delT	uc004erh.4	+	1	566	c.450delT	c.(448-450)gctfs	p.A150fs	SLC25A5-AS1_uc022cdj.1_5'Flank|SLC25A5-AS1_uc004ere.1_5'Flank|SLC25A5-AS1_uc004erg.1_5'Flank	NM_001152	NP_001143	P05141	ADT2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 (SLC25A5), nuclear gene encoding mitochondrial protein, mRNA.	150					chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	MMXD complex|integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid	adenine transmembrane transporter activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	AAGCTGGAGCTGAAAGGGAAT	0.537													9	124	---	---	---	---						-	118603962	T	-	118603962	7	5	9	1	0	1	0	1	0	0	0	0	14512	1567	55	0	456	0	SLC25A5	23	118603962	Frame_Shift_Del	DEL	T	TCGA-CS-5395-01A-01D-1468-08	71660119	118603962	36666598	54	372											
ODZ1	10178	broad.mit.edu	37	chrX	123654451	123654451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagacaagattaattgcggCgggaaaccacttctgtgtga	12	10	12	7	2	1	3	0	1	1	2	1	4	1	4	1	2	2	1	1	2	4	4			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chrX:123654451C>T	uc010nqy.3	-	17	3281	c.3217G>A	c.(3217-3219)Gcc>Acc	p.A1073T	ODZ1_uc011muj.2_Missense_Mutation_p.A1072T|ODZ1_uc004euj.3_Missense_Mutation_p.A1073T	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1073					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	p.A1075S(1)		NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TTAATTGCGGCGGGAAACCAC	0.473													111	24					0	0	0.870114	0	0	T	123654451	C	T	123654451	3	4	9	1	0	0	0	0	1	0	0	0	10834	768	27	1	5041	1	ODZ1	23	123654451	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08	5050489	123654451	31616109	55	373											
MTOR	2475	broad.mit.edu	37	chr1	11184570	11184570	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatacctgaggtttttccgaAgagatgttgggtcattggcc	9	13	12	7	1	1	2	1	1	0	1	2	4	2	2	3	3	1	2	3	3	3	5			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr1:11184570A>G	uc001asd.3	-	46	6768	c.6647T>C	c.(6646-6648)cTt>cCt	p.L2216P	MTOR_uc001asc.3_Missense_Mutation_p.L421P	NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	2216	PI3K/PI4K.				T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.S2215Y(4)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GTTTTTCCGAAGAGATGTTGG	0.443													32	6					0	0	0.796494	0	0	G	11184570	A	G	11184570	3	3	10	1	0	0	0	0	1	0	0	0	9954	72	3	4	1050	4	MTOR	1	11184570	Missense_Mutation	SNP	A	TCGA-CS-5396-01A-02D-1468-08		11184570	238066051	1	374											
MAGI3	260425	broad.mit.edu	37	chr1	114225640	114225640	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacgtgccagtaattgaagaAtctttgagagttcagatatg	13	12	10	6	1	2	4	1	2	1	3	2	5	2	4	1	0	1	2	1	0	4	5			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr1:114225640A>G	uc001edk.3	+	20	3631	c.3450A>G	c.(3448-3450)gaA>gaG	p.E1150E	MAGI3_uc001edi.4_3'UTR|MAGI3_uc010owm.2_3'UTR|MAGI3_uc001edj.3_3'UTR|MAGI3_uc009wgo.3_Non-coding_Transcript	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	1175					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAATTGAAGAATCTTTGAGAG	0.368													3	41					0	0	0.115264	0	0	G	114225640	A	G	114225640	2	3	10	1	0	0	0	0	0	0	0	1	9192	98	4	3		3	MAGI3	1	114225640	Silent	SNP	A	TCGA-CS-5396-01A-02D-1468-08	103041070	114225640	135024981	2	375											
AP4B1	10717	broad.mit.edu	37	chr1	114443933	114443933	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaatttcctctagagacCtcaagcagttcacaactaca	14	10	5	12	0	4	2	3	0	1	2	5	3	5	2	2	0	3	2	2	0	5	4			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr1:114443933C>A	uc001eeb.3	-	3	728	c.542G>T	c.(541-543)aGg>aTg	p.R181M	AP4B1_uc001eec.3_Intron|AP4B1_uc010owp.2_Missense_Mutation_p.R82M|AP4B1_uc001eed.3_Missense_Mutation_p.R181M|AP4B1_uc001eea.1_5'Flank|AP4B1_uc010owq.2_Intron	NM_001253852	NP_001240781	Q9Y6B7	AP4B1_HUMAN	Homo sapiens adaptor-related protein complex 4, beta 1 subunit (AP4B1), transcript variant 2, mRNA.	181					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCTAGAGACCTCAAGCAGTT	0.408													4	78					0.150653	0.166347	0.150653	1	0	A	114443933	C	A	114443933	3	1	10	1	0	0	0	0	1	0	0	0	751	681	24	5	1705	5	AP4B1	1	114443933	Missense_Mutation	SNP	C	TCGA-CS-5396-01A-02D-1468-08	218293	114443933	134806688	3	376											
ATP8B2	57198	broad.mit.edu	37	chr1	154306628	154306628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaaactggacaaattcaGcggaaccctctactggaagg	15	6	9	11	1	2	0	1	0	1	0	2	3	2	3	1	4	5	0	1	4	6	2			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr1:154306628G>A	uc001fex.3	+	9	734	c.734G>A	c.(733-735)aGc>aAc	p.S245N	ATP8B2_uc001few.3_Missense_Mutation_p.S212N|ATP8B2_uc001fey.1_Missense_Mutation_p.S231N	NM_020452	NP_065185	P98198	AT8B2_HUMAN	Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.	231					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GACAAATTCAGCGGAACCCTC	0.512													14	379					0	0	0.500413	0	0	A	154306628	G	A	154306628	3	1	10	1	0	0	0	0	1	0	0	0	1195	971	34	3	772	3	ATP8B2	1	154306628	Missense_Mutation	SNP	G	TCGA-CS-5396-01A-02D-1468-08	39862695	154306628	94943993	4	377											
VHLL	391104	broad.mit.edu	37	chr1	156268966	156268966	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaaacccaccccgttcccCgctctccagggcattacctc	7	9	5	20	2	2	0	0	0	2	0	5	0	3	0	7	1	2	3	7	1	3	3			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr1:156268966C>T	uc001fok.3	-	0	463	c.15G>A	c.(13-15)gcG>gcA	p.A5A		NM_001004319	NP_001004319	Q6RSH7	VHLL_HUMAN	Homo sapiens von Hippel-Lindau tumor suppressor-like (VHLL), mRNA.	5					protein ubiquitination	nucleus				endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					CCCCGTTCCCCGCTCTCCAGG	0.597													9	127					0	0	0.361761	0	0	T	156268966	C	T	156268966	2	4	10	1	0	0	0	0	0	0	0	1	17160	639	23	2		2	VHLL	1	156268966	Silent	SNP	C	TCGA-CS-5396-01A-02D-1468-08	1962338	156268966	92981655	5	378											
NEB	4703	broad.mit.edu	37	chr2	152409920	152409920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcaaactcacatcatcacGtagatcataagcatgcttgg	14	9	8	10	1	4	1	4	0	0	1	4	1	4	1	0	2	3	4	0	2	3	3			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr2:152409920G>A	uc021vrb.1	-	97	14649	c.14620C>T	c.(14620-14622)Cgt>Tgt	p.R4874C	NEB_uc002txr.3_Missense_Mutation_p.R1340C|NEB_uc002txu.3_Missense_Mutation_p.R6575C|NEB_uc021vrc.1_Missense_Mutation_p.R6575C|NEB_uc010fnx.3_Missense_Mutation_p.R4862C|NEB_uc021vrd.1_Missense_Mutation_p.R4874C	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4874					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACATCATCACGTAGATCATAA	0.408													44	35					0	0	0.853193	0	0	A	152409920	G	A	152409920	3	1	10	1	0	0	0	0	1	0	0	0	10302	1145	40	1	6187	1	NEB	2	152409920	Missense_Mutation	SNP	G	TCGA-CS-5396-01A-02D-1468-08		152409920	90789453	6	379											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								36	46					0	0	0.840704	0	0	T	209113112	C	T	209113112	3	4	10	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CS-5396-01A-02D-1468-08	56703192	209113112	34086261	7	380											
SLC6A6	6533	broad.mit.edu	37	chr3	14520692	14520692	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatcactccagttctctgtgTtgtgagttccatttctgtgg	5	17	10	9	0	3	1	1	1	2	0	6	2	5	1	2	1	0	3	2	1	0	4			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr3:14520692T>C	uc010heg.3	+	13	1850	c.1551_splice	c.e13+1	p.V517_splice	SLC6A6_uc003byq.3_Splice_Site_p.V517_splice|SLC6A6_uc003byr.3_Splice_Site	NM_001134367	NP_003034	P31641	SC6A6_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, taurine), member 6 (SLC6A6), transcript variant 2, mRNA.	517					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						GTTCTCTGTGTTGTGAGTTCC	0.517													36	66					0	0	0.796494	0	0	C	14520692	T	C	14520692	5	2	10	1	0	0	0	0	0	0	1	0	14688	1739	60	3	1596	3	SLC6A6	3	14520692	Splice_Site	SNP	T	TCGA-CS-5396-01A-02D-1468-08		14520692	183501738	8	381											
GADL1	339896	broad.mit.edu	37	chr3	30885753	30885753	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttcctcaggtatcattttAcctctaagggacaaagattt	12	14	7	8	0	3	1	2	0	1	1	4	2	4	2	2	2	1	2	2	2	4	6			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr3:30885753A>G	uc003cep.2	-	7	782	c.735T>C	c.(733-735)ggT>ggC	p.G245G	GADL1_uc003ceq.1_Silent_p.G245G	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN	Homo sapiens glutamate decarboxylase-like 1 (GADL1), mRNA.	245					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding	p.G244R(1)|p.G244K(1)|p.G244E(1)		breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	GTATCATTTTACCTCTAAGGG	0.433													79	106					0	0	0.870114	0	0	G	30885753	A	G	30885753	2	3	10	1	0	0	0	0	0	0	0	1	6185	378	14	3		3	GADL1	3	30885753	Silent	SNP	A	TCGA-CS-5396-01A-02D-1468-08	16365061	30885753	167136677	9	382											
SPATA18	132671	broad.mit.edu	37	chr4	52945942	52945942	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgaatgtcaatcccaaGatttcattccctcctgtcgt	9	13	6	13	1	2	2	2	1	0	1	6	2	5	2	4	0	0	0	4	0	3	2			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr4:52945942G>T	uc003gzl.3	+	8	1490	c.1212G>T	c.(1210-1212)aaG>aaT	p.K404N	SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Missense_Mutation_p.K372N|SPATA18_uc003gzk.1_Missense_Mutation_p.K404N	NM_145263	NP_660306	Q8TC71	MIEAP_HUMAN	Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA.	404					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	p.K404N(3)|p.P403P(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCAATCCCAAGATTTCATTCC	0.443													8	287					7.48243e-07	9.01293e-07	0.335167	1	0	T	52945942	G	T	52945942	3	4	10	1	0	0	0	0	1	0	0	0	15002	933	33	5	1246	5	SPATA18	4	52945942	Missense_Mutation	SNP	G	TCGA-CS-5396-01A-02D-1468-08		52945942	138208334	10	383											
HERC3	8916	broad.mit.edu	37	chr4	89583639	89583639	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagcacattataccagtttaAtaaatgatgaaaccatagca	19	10	5	7	0	0	2	0	2	0	0	0	2	0	2	2	0	4	3	2	0	8	6			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr4:89583639A>G	uc003hrw.1	+	10	1370	c.1204A>G	c.(1204-1206)Ata>Gta	p.I402V	HERC3_uc011cdn.1_Missense_Mutation_p.I284V|HERC3_uc011cdo.1_Intron	NM_014606	NP_055421	Q15034	HERC3_HUMAN	Homo sapiens hect domain and RLD 3 (HERC3), mRNA.	402					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TACCAGTTTAATAAATGATGA	0.333													45	60					0	0	0.870114	0	0	G	89583639	A	G	89583639	3	3	10	1	0	0	0	0	1	0	0	0	7059	101	4	3	1238	3	HERC3	4	89583639	Missense_Mutation	SNP	A	TCGA-CS-5396-01A-02D-1468-08	36637697	89583639	101570637	11	384											
ADH1A	124	broad.mit.edu	37	chr4	100205754	100205754	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgctggtgccatcctgcagGgtcccctgaggattgcttac	5	11	12	13	0	0	1	0	1	0	0	2	2	2	2	4	3	5	3	4	3	1	2			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr4:100205754G>A	uc003hur.2	-	4	483	c.369C>T	c.(367-369)acC>acT	p.T123T	LOC100507053_uc003hum.2_Intron|ADH1A_uc010ilf.1_5'UTR	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	123					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	CATCCTGCAGGGTCCCCTGAG	0.517													21	38					0	0	0.608945	0	0	A	100205754	G	A	100205754	2	1	10	1	0	0	0	0	0	0	0	1	307	1219	43	3		3	ADH1A	4	100205754	Silent	SNP	G	TCGA-CS-5396-01A-02D-1468-08	10622115	100205754	90948522	12	385											
SLC26A8	116369	broad.mit.edu	37	chr6	35922951	35922951	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttaatacgactaaccccCgtgaatccacgtagtgtacc	11	10	7	13	3	1	1	0	1	1	0	2	2	2	1	4	0	3	2	4	0	6	5			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr6:35922951C>T	uc003olm.3	-	16	2321	c.2210G>A	c.(2209-2211)cGg>cAg	p.R737Q	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Missense_Mutation_p.R319Q|SLC26A8_uc003oll.3_Missense_Mutation_p.R632Q|SLC26A8_uc003oln.3_Missense_Mutation_p.R737Q	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	737	Interaction with RACGAP1.|STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	p.R737L(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GACTAACCCCCGTGAATCCAC	0.527													59	92					0	0	0.870114	0	0	T	35922951	C	T	35922951	3	4	10	1	0	0	0	0	1	0	0	0	14523	652	23	2	718	2	SLC26A8	6	35922951	Missense_Mutation	SNP	C	TCGA-CS-5396-01A-02D-1468-08		35922951	135192116	13	386											
C6orf108	10591	broad.mit.edu	37	chr6	43193850	43193850	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagctcatagcctacaccCaaggatggctgtgtcacttc	9	9	8	15	0	2	0	2	0	0	0	3	1	2	1	3	2	3	2	3	2	3	3			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr6:43193850C>T	uc003ouo.3	-	2	314	c.297G>A	c.(295-297)ttG>ttA	p.L99L	C6orf108_uc003oup.3_Silent_p.L99L	NM_006443	NP_006434	O43598	RCL_HUMAN	Homo sapiens chromosome 6 open reading frame 108 (C6orf108), transcript variant 1, mRNA.	99					cell proliferation|deoxyribonucleoside monophosphate catabolic process|positive regulation of cell growth	cytoplasm|nucleus	deoxyribonucleoside 5'-monophosphate N-glycosidase activity|nucleoside deoxyribosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	5			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0123)|OV - Ovarian serous cystadenocarcinoma(102;0.0531)			AGCCTACACCCAAGGATGGCT	0.607													12	34					0	0	0.411799	0	0	T	43193850	C	T	43193850	2	4	10	1	0	0	0	0	0	0	0	1	2320	593	21	3		3	C6orf108	6	43193850	Silent	SNP	C	TCGA-CS-5396-01A-02D-1468-08	7270899	43193850	127921217	14	387											
EPHA7	2045	broad.mit.edu	37	chr6	93964475	93964475	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaatttccggtactggaTggcttcgggtgctgtccacc	5	13	13	10	2	0	1	0	1	0	0	3	2	2	2	3	4	2	3	3	4	2	3			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr6:93964475T>C	uc003poe.3	-	13	2663	c.2422A>G	c.(2422-2424)Atc>Gtc	p.I808V	EPHA7_uc003pof.3_Missense_Mutation_p.I803V|EPHA7_uc011eac.2_Missense_Mutation_p.I804V	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	808	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CGGTACTGGATGGCTTCGGGT	0.373													40	44					0	0	0.827153	0	0	C	93964475	T	C	93964475	3	2	10	1	0	0	0	0	1	0	0	0	5172	1464	51	3	590	3	EPHA7	6	93964475	Missense_Mutation	SNP	T	TCGA-CS-5396-01A-02D-1468-08	50770625	93964475	77150592	15	388											
MAP3K5	4217	broad.mit.edu	37	chr6	136935398	136935398	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaggtgtttatgcaatgctAtttcttcatgcaggggctga	8	15	11	7	0	3	1	2	1	1	0	3	1	3	1	0	3	3	5	0	3	3	5			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr6:136935398A>G	uc003qhc.3	-	15	2538	c.2177T>C	c.(2176-2178)aTa>aCa	p.I726T	MAP3K5_uc011edj.2_5'UTR|MAP3K5_uc011edk.1_Missense_Mutation_p.I571T	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	726	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		ATGCAATGCTATTTCTTCATG	0.363													64	100					0	0	0.870114	0	0	G	136935398	A	G	136935398	3	3	10	1	0	0	0	0	1	0	0	0	9253	449	16	3	2007	3	MAP3K5	6	136935398	Missense_Mutation	SNP	A	TCGA-CS-5396-01A-02D-1468-08	42970923	136935398	34179669	16	389											
CYCS	54205	broad.mit.edu	37	chr7	25163609	25163609	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtgtaagagtatccaggggCctgacctgtcttccgcccaa	8	10	11	12	1	1	2	0	1	1	1	3	2	3	2	5	2	0	2	5	2	3	3	rs11548807		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr7:25163609C>A	uc003sxl.3	-	1	300	c.130G>T	c.(130-132)Gcc>Tcc	p.A44S		NM_018947	NP_061820	P99999	CYC_HUMAN	Homo sapiens cytochrome c, somatic (CYCS), nuclear gene encoding mitochondrial protein, mRNA.	44					DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|respiratory electron transport chain|transport	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|mitochondrial matrix|nucleus|protein phosphatase type 2A complex|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding|protein binding			endometrium(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	4					Melatonin(DB01065)|Minocycline(DB01017)	TATCCAGGGGCCTGACCTGTC	0.443													21	68					7.45023e-12	9.18284e-12	0.592651	1	0	A	25163609	C	A	25163609	3	1	10	1	0	0	0	0	1	0	0	0	4136	739	26	5	195	5	CYCS	7	25163609	Missense_Mutation	SNP	C	TCGA-CS-5396-01A-02D-1468-08		25163609	133975054	17	390											
GPR124	25960	broad.mit.edu	37	chr8	37698790	37698790	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagctgaggggttccaccagGctcaggggcagcggccccct	6	5	16	14	1	1	1	1	1	0	0	2	2	2	1	4	6	2	4	4	6	0	1			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr8:37698790G>T	uc003xkj.3	+	18	3320	c.2934G>T	c.(2932-2934)agG>agT	p.R978S	GPR124_uc010lvy.3_Missense_Mutation_p.R761S	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.	978					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GTTCCACCAGGCTCAGGGGCA	0.706													6	4					0.0215528	0.0243042	0.217242	1	0	T	37698790	G	T	37698790	3	4	10	1	0	0	0	0	1	0	0	0	6638	1194	42	5	2987	5	GPR124	8	37698790	Missense_Mutation	SNP	G	TCGA-CS-5396-01A-02D-1468-08		37698790	108665232	18	391											
AS3MT	57412	broad.mit.edu	37	chr10	104650300	104650300	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttttatactaccctttaGgaaggtgaaattgttgaagt	11	18	8	4	0	0	2	0	2	0	0	0	3	0	3	1	2	2	1	1	2	7	10			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr10:104650300G>A	uc001kwj.3	+	14	1291	c.892_splice	c.e14-1	p.E298_splice	AS3MT_uc009xxh.3_Splice_Site_p.E296_splice|AS3MT_uc001kwk.3_Splice_Site_p.E296_splice	NM_020682	NP_065733	Q9HBK9	AS3MT_HUMAN	Homo sapiens arsenic (+3 oxidation state) methyltransferase (AS3MT), mRNA.	296					arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		CTACCCTTTAGGAAGGTGAAA	0.368													3	91					0	0	0.150653	0	0	A	104650300	G	A	104650300	5	1	10	1	0	0	0	0	0	0	1	0	1005	1014	35	3	923	3	AS3MT	10	104650300	Splice_Site	SNP	G	TCGA-CS-5396-01A-02D-1468-08		104650300	30884447	19	392											
MTA2	9219	broad.mit.edu	37	chr11	62363998	62363998	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgctggcaagtgacttccAgggtagctaaggggggcaga	10	8	16	7	0	0	2	0	1	0	1	1	2	1	2	1	5	2	5	1	5	4	4			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr11:62363998A>G	uc001ntq.2	-	9	1279	c.889T>C	c.(889-891)Tgg>Cgg	p.W297R	MTA2_uc010rlx.1_Missense_Mutation_p.W124R	NM_004739	NP_004730	O94776	MTA2_HUMAN	Homo sapiens metastasis associated 1 family, member 2 (MTA2), mRNA.	297	SANT.				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						AGTGACTTCCAGGGTAGCTAA	0.542													20	60					0	0	0.624587	0	0	G	62363998	A	G	62363998	3	3	10	1	0	0	0	0	1	0	0	0	9909	188	7	4	1153	4	MTA2	11	62363998	Missense_Mutation	SNP	A	TCGA-CS-5396-01A-02D-1468-08		62363998	72642518	20	393											
KRAS	3845	broad.mit.edu	37	chr12	25398306	25398306	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctccaactaccacaagttTatattcagtcattttcagca	13	13	4	11	0	3	0	3	0	0	0	4	0	4	0	2	0	4	3	2	0	5	7	rs121918682		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr12:25398306T>C	uc001rgp.1	-	1	194	c.13A>G	c.(13-15)Aaa>Gaa	p.K5E	KRAS_uc001rgq.1_Missense_Mutation_p.K5E|KRAS_uc001rgr.3_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	5			K -> E (in NS3).|K -> N (in GASC; found also in a patient with Costello syndrome; exhibits only minor alterations in its in vitro biochemical behavior compared to wild- type protein).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.K5N(2)|p.K5E(2)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			ACCACAAGTTTATATTCAGTC	0.358		119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			20	31					0	0	0.592651	0	0	C	25398306	T	C	25398306	3	2	10	1	0	0	0	0	1	0	0	0	8438	1763	61	3	693	3	KRAS	12	25398306	Missense_Mutation	SNP	T	TCGA-CS-5396-01A-02D-1468-08		25398306	108453589	21	394											
PDE1B	5153	broad.mit.edu	37	chr12	54968886	54968886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catctgccccaaccaggattGacaagcccaaggccctgtct	10	7	8	16	0	2	1	0	1	2	0	2	2	2	2	5	2	3	0	5	2	3	1			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr12:54968886G>A	uc001sgd.2	+	10	1462	c.1069G>A	c.(1069-1071)Gac>Aac	p.D357N	PDE1B_uc010soz.2_Missense_Mutation_p.D220N|PDE1B_uc010spa.1_Missense_Mutation_p.D316N|PDE1B_uc001sge.3_Missense_Mutation_p.D337N|PDE1B_uc001sgf.3_Missense_Mutation_p.D220N|PDE1B_uc009znq.3_Missense_Mutation_p.D153N	NM_000924	NP_000915	Q01064	PDE1B_HUMAN	Homo sapiens phosphodiesterase 1B, calmodulin-dependent (PDE1B), transcript variant 1, mRNA.	357	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						AACCAGGATTGACAAGCCCAA	0.537													8	95					0	0	0.335167	0	0	A	54968886	G	A	54968886	3	1	10	1	0	0	0	0	1	0	0	0	11634	1290	45	3	1164	3	PDE1B	12	54968886	Missense_Mutation	SNP	G	TCGA-CS-5396-01A-02D-1468-08	29570580	54968886	78883009	22	395											
EEA1	8411	broad.mit.edu	37	chr12	93244954	93244954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttcagattctcgctcaCgttccaaggtcatgttatcc	7	16	7	11	2	4	1	3	0	1	1	7	1	6	1	2	1	0	4	2	1	2	5			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr12:93244954C>T	uc001tck.3	-	8	996	c.731G>A	c.(730-732)cGt>cAt	p.R244H		NM_003566	NP_003557	Q15075	EEA1_HUMAN	Homo sapiens early endosome antigen 1 (EEA1), mRNA.	244					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|GTP-dependent protein binding|calmodulin binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TTCTCGCTCACGTTCCAAGGT	0.383													35	41					0	0	0.769981	0	0	T	93244954	C	T	93244954	3	4	10	1	0	0	0	0	1	0	0	0	4921	536	19	1	3588	1	EEA1	12	93244954	Missense_Mutation	SNP	C	TCGA-CS-5396-01A-02D-1468-08	38276068	93244954	40606941	23	396											
FRY	10129	broad.mit.edu	37	chr13	32747575	32747575	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcagtgtactccacgctgtAgaaggttttgctctggtttt	6	16	11	8	1	1	1	0	0	1	1	2	1	2	1	1	2	3	7	1	2	3	6			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr13:32747575A>C	uc001utx.3	+	18	2719	c.2223A>C	c.(2221-2223)gtA>gtC	p.V741V	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	741					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCCACGCTGTAGAAGGTTTTG	0.468													20	102					0	0	0.575678	0	0	C	32747575	A	C	32747575	2	2	10	1	0	0	0	0	0	0	0	1	6063	407	15	5		5	FRY	13	32747575	Silent	SNP	A	TCGA-CS-5396-01A-02D-1468-08		32747575	82422303	24	397											
EFNB2	1948	broad.mit.edu	37	chr13	107147326	107147326	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatctttattcctggttgaTccagcagaacttgcatctat	9	15	8	9	0	2	2	0	1	2	1	4	3	4	3	2	2	3	3	2	2	3	6			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr13:107147326T>A	uc001vqi.3	-	3	592	c.516A>T	c.(514-516)ggA>ggT	p.G172G		NM_004093	NP_004084	P52799	EFNB2_HUMAN	Homo sapiens ephrin-B2 (EFNB2), mRNA.	172					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TCCTGGTTGATCCAGCAGAAC	0.383													90	111					0	0	0.870114	0	0	A	107147326	T	A	107147326	2	1	10	1	0	0	0	0	0	0	0	1	4956	1422	50	5		5	EFNB2	13	107147326	Silent	SNP	T	TCGA-CS-5396-01A-02D-1468-08	74399751	107147326	8022552	25	398											
SIPA1L1	26037	broad.mit.edu	37	chr14	72055666	72055666	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttattaagaggagaaacacCaccactggagcttccgcagc	13	7	10	11	1	0	2	0	0	0	2	1	4	1	3	3	2	3	3	3	2	3	3			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr14:72055666C>T	uc001xms.3	+	1	1438	c.1077C>T	c.(1075-1077)acC>acT	p.T359T	SIPA1L1_uc001xmt.3_Silent_p.T359T|SIPA1L1_uc001xmu.3_Silent_p.T359T|SIPA1L1_uc001xmv.3_Silent_p.T359T	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	359					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGAGAAACACCACCACTGGAG	0.478													3	91					0	0	0.115264	0	0	T	72055666	C	T	72055666	2	4	10	1	0	0	0	0	0	0	0	1	14329	581	21	3		3	SIPA1L1	14	72055666	Silent	SNP	C	TCGA-CS-5396-01A-02D-1468-08		72055666	35293874	26	399											
TUBB3	10381	broad.mit.edu	37	chr16	89986243	89986243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccgtcctgctgtgcctcGtggtcttcttcctggctatg	1	15	12	13	2	2	0	0	0	2	0	5	0	4	0	4	3	2	2	4	3	1	3			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr16:89986243G>A	uc002fpf.2	+	0	985	c.577G>A	c.(577-579)Gtg>Atg	p.V193M	TUBB3_uc002fpe.4_Missense_Mutation_p.V193M|TUBB3_uc010ciz.1_5'Flank	NM_006086	NP_006077	Q13509	TBB3_HUMAN	Homo sapiens tubulin, beta 3 class III (TUBB3), transcript variant 1, mRNA.	0					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.L192L(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GCTGTGCCTCGTGGTCTTCTT	0.672													4	47					0	0	0.150653	0	0	A	89986243	G	A	89986243	3	1	10	1	0	0	0	0	1	0	0	0	16754	1145	40	1		1	TUBB3	16	89986243	Missense_Mutation	SNP	G	TCGA-CS-5396-01A-02D-1468-08		89986243	368510	27	400											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr17:7577120C>T	uc002gim.2	-	7	1012	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			13	34					0	0	0.457914	0	0	T	7577120	C	T	7577120	3	4	10	1	0	0	0	0	1	0	0	0	16378	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-CS-5396-01A-02D-1468-08		7577120	73618090	28	401											
CSH1	1442	broad.mit.edu	37	chr17	61972456	61972456	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgaccttgtccatgtcctTcctgaagcagtagagcagcc	8	10	9	14	1	0	2	0	1	0	1	4	3	3	2	5	0	3	3	5	0	2	3			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr17:61972456T>C	uc002jcs.2	-	4	730	c.580A>G	c.(580-582)Aag>Gag	p.K194E		NM_001317	NP_001308	P01243	CSH_HUMAN	Homo sapiens chorionic somatomammotropin hormone 1 (placental lactogen) (CSH1), mRNA.	194					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TCCATGTCCTTCCTGAAGCAG	0.567									Russell-Silver syndrome				80	108					0	0	0.870114	0	0	C	61972456	T	C	61972456	3	2	10	1	0	0	0	0	1	0	0	0	3940	1792	62	3	77	3	CSH1	17	61972456	Missense_Mutation	SNP	T	TCGA-CS-5396-01A-02D-1468-08	54395336	61972456	19222754	29	402											
THOP1	7064	broad.mit.edu	37	chr19	2810741	2810741	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgcgcggctctgccaggaGatcctcggggtcccggccac	5	7	14	15	4	1	1	0	0	1	1	4	2	3	1	4	5	2	1	4	5	1	1			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr19:2810741G>T	uc002lwj.3	+	10	1901	c.1746G>T	c.(1744-1746)gaG>gaT	p.E582D	THOP1_uc010xgz.2_Missense_Mutation_p.E461D|THOP1_uc002lwk.3_Missense_Mutation_p.E93D	NM_003249	NP_003240	P52888	THOP1_HUMAN	Homo sapiens thimet oligopeptidase 1 (THOP1), mRNA.	582					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		TCTGCCAGGAGATCCTCGGGG	0.662													4	9					0.000602214	0.000693856	0.184627	1	0	T	2810741	G	T	2810741	3	4	10	1	0	0	0	0	1	0	0	0	15868	933	33	5	1788	5	THOP1	19	2810741	Missense_Mutation	SNP	G	TCGA-CS-5396-01A-02D-1468-08		2810741	56318242	30	403											
TIAM1	7074	broad.mit.edu	37	chr21	32617956	32617956	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cccagacctgccgtcgctctCgtagaaaaatagcgtgcatc	10	8	9	14	4	1	2	0	0	1	2	4	2	1	2	3	0	3	3	3	0	4	2			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr21:32617956C>G	uc002yow.1	-	6	1904	c.1432G>C	c.(1432-1434)Gag>Cag	p.E478Q	TIAM1_uc011adk.1_Missense_Mutation_p.E478Q|TIAM1_uc011adl.1_Missense_Mutation_p.E478Q|TIAM1_uc002yox.1_Missense_Mutation_p.E86Q	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	478	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity	p.Y477Y(1)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCGTCGCTCTCGTAGAAAAAT	0.527													10	41					0	0	0.361761	0	0	G	32617956	C	G	32617956	3	3	10	1	0	0	0	0	1	0	0	0	15887	893	31	5	3435	5	TIAM1	21	32617956	Missense_Mutation	SNP	C	TCGA-CS-5396-01A-02D-1468-08		32617956	15511939	31	404											
PHEX	5251	broad.mit.edu	37	chrX	22095667	22095667	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttccgctggcccgtgctTgaatctaatattggccctga	6	13	9	13	2	1	2	0	2	1	0	2	2	2	2	4	2	1	2	4	2	3	5			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chrX:22095667T>A	uc004dah.3	+	4	713	c.510T>A	c.(508-510)ctT>ctA	p.L170L	PHEX_uc011mjr.2_Silent_p.L170L|PHEX_uc011mjs.2_Silent_p.L73L	NM_000444	NP_000435	P78562	PHEX_HUMAN	Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.	170					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						GGCCCGTGCTTGAATCTAATA	0.473													140	246					0	0	0.870114	0	0	A	22095667	T	A	22095667	2	1	10	1	0	0	0	0	0	0	0	1	11819	1799	63	5		5	PHEX	23	22095667	Silent	SNP	T	TCGA-CS-5396-01A-02D-1468-08		22095667	133174893	32	405											
COL4A6	1288	broad.mit.edu	37	chrX	107406179	107406179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgaggccagggatgccatCgatccctggtagacccaagg	10	6	14	11	1	0	2	0	1	0	1	2	4	1	3	4	4	1	1	4	4	2	1			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chrX:107406179C>T	uc004enw.4	-	40	4265	c.4162G>A	c.(4162-4164)Gat>Aat	p.D1388N	COL4A6_uc004env.4_Missense_Mutation_p.D1387N|COL4A6_uc011msn.2_Missense_Mutation_p.D1363N|COL4A6_uc010npk.3_Missense_Mutation_p.D1330N|COL4A6_uc011msm.1_5'Flank	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	1388	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGGATGCCATCGATCCCTGGT	0.592									Alport syndrome with Diffuse Leiomyomatosis				116	174					0	0	0.870114	0	0	T	107406179	C	T	107406179	3	4	10	1	0	0	0	0	1	0	0	0	3695	884	31	2	933	2	COL4A6	23	107406179	Missense_Mutation	SNP	C	TCGA-CS-5396-01A-02D-1468-08	85310512	107406179	47864381	33	406											
ODZ1	10178	broad.mit.edu	37	chrX	123680892	123680892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagagaggacttatataaCagttgctttgttgacaacag	13	11	11	6	0	0	2	0	1	0	1	0	4	0	3	0	2	3	4	0	2	4	6			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chrX:123680892C>T	uc010nqy.3	-	14	2547	c.2483G>A	c.(2482-2484)tGt>tAt	p.C828Y	ODZ1_uc011muj.2_Missense_Mutation_p.C827Y|ODZ1_uc004euj.3_Missense_Mutation_p.C828Y	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	828					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	p.Q827K(1)		NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						ACTTATATAACAGTTGCTTTG	0.393													38	68					0	0	0.834066	0	0	T	123680892	C	T	123680892	3	4	10	1	0	0	0	0	1	0	0	0	10834	478	17	3	5787	3	ODZ1	23	123680892	Missense_Mutation	SNP	C	TCGA-CS-5396-01A-02D-1468-08	16274713	123680892	31589668	34	407											
PLXNA3	55558	broad.mit.edu	37	chrX	153695648	153695648	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttgggcggccccagcctcGggcgcaaggcgagcaccctg	5	5	15	16	4	1	0	0	0	1	0	2	1	1	0	4	4	2	2	4	4	1	1			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chrX:153695648G>T	uc004flm.3	+	18	3448	c.3275G>T	c.(3274-3276)cGg>cTg	p.R1092L		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	1092	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCCAGCCTCGGGCGCAAGGC	0.617													28	112					4.65686e-17	5.87652e-17	0.788014	1	0	T	153695648	G	T	153695648	3	4	10	1	0	0	0	0	1	0	0	0	12121	1116	39	5	3345	5	PLXNA3	23	153695648	Missense_Mutation	SNP	G	TCGA-CS-5396-01A-02D-1468-08	30014756	153695648	1574912	35	408											
PLCH2	9651	broad.mit.edu	37	chr1	2411404	2411404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcctggctcgccgccagcGcaccagggaccaatatcctt	8	6	10	17	3	0	0	0	0	0	0	2	1	1	1	6	2	2	2	6	2	2	2			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr1:2411404G>A	uc001aji.1	+	2	777	c.503G>A	c.(502-504)cGc>cAc	p.R168H	PLCH2_uc010nyz.2_5'Flank|PLCH2_uc009vle.1_5'Flank|PLCH2_uc001ajj.1_5'Flank|PLCH2_uc001ajk.1_5'Flank	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	168					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CGCCGCCAGCGCACCAGGGAC	0.687													18	49					0	0	0.012319	0	0	A	2411404	G	A	2411404	3	1	11	1	0	0	0	0	1	0	0	0	12038	1087	38	1	513	1	PLCH2	1	2411404	Missense_Mutation	SNP	G	TCGA-CS-5397-01A-01D-1893-08		2411404	246839217	1	409											
AADACL4	343066	broad.mit.edu	37	chr1	12711261	12711261	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accgacctgcgttttgggacGatacccgtgaggctgttcca	7	10	12	12	4	0	1	0	1	0	0	1	4	1	2	4	2	2	3	4	2	1	4			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr1:12711261G>A	uc001auf.3	+	1	288	c.288G>A	c.(286-288)acG>acA	p.T96T		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	96						integral to membrane	carboxylesterase activity			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)		GTTTTGGGACGATACCCGTGA	0.517													31	53					0	0	0.009535	0	0	A	12711261	G	A	12711261	2	1	11	1	0	0	0	0	0	0	0	1	13	1045	37	2		2	AADACL4	1	12711261	Silent	SNP	G	TCGA-CS-5397-01A-01D-1893-08	10299857	12711261	236539360	2	410											
ZNF362	149076	broad.mit.edu	37	chr1	33745746	33745746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctggggctgtccacccggaCcccgtctgtgagcacttctg	4	10	12	15	2	3	1	0	1	3	0	4	2	4	2	4	3	1	2	4	3	0	1			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr1:33745746C>T	uc001bxc.1	+	4	541	c.371C>T	c.(370-372)aCc>aTc	p.T124I		NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN	Homo sapiens zinc finger protein 362 (ZNF362), mRNA.	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TCCACCCGGACCCCGTCTGTG	0.682													12	58					0	0	0.013537	0	0	T	33745746	C	T	33745746	3	4	11	1	0	0	0	0	1	0	0	0	17865	507	18	3	385	3	ZNF362	1	33745746	Missense_Mutation	SNP	C	TCGA-CS-5397-01A-01D-1893-08	21034485	33745746	215504875	3	411											
DAB1	1600	broad.mit.edu	37	chr1	57756661	57756661	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttctggagtctttcttggcGctggttttcacagctacttg	4	18	10	9	1	4	0	1	0	3	0	4	1	4	1	0	3	2	3	0	3	1	7			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr1:57756661G>A	uc009vzx.1	-	1	362	c.42C>T	c.(40-42)agC>agT	p.S14S	DAB1_uc001cyt.1_Silent_p.S14S|DAB1_uc001cyq.1_Silent_p.S14S|DAB1_uc001cyr.1_Silent_p.S14S|DAB1_uc009vzw.1_Silent_p.S14S|DAB1_uc001cys.1_Silent_p.S14S	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	14					cell differentiation|nervous system development			p.T13T(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CTTTCTTGGCGCTGGTTTTCA	0.443													27	64					0	0	0.00632	0	0	A	57756661	G	A	57756661	2	1	11	1	0	0	0	0	0	0	0	1	4217	1078	38	1		1	DAB1	1	57756661	Silent	SNP	G	TCGA-CS-5397-01A-01D-1893-08	24010915	57756661	191493960	4	412											
CDC14A	8556	broad.mit.edu	37	chr1	100818540	100818540	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagtcaggggaactaatcggGgcttgtgagttcatgaaagg	11	9	16	5	1	2	2	2	2	0	0	3	4	2	3	0	5	1	2	0	5	3	3			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr1:100818540G>T	uc001dtf.2	+	0	518	c.30G>T	c.(28-30)ggG>ggT	p.G10G	CDC14A_uc009web.2_Intron|CDC14A_uc010oui.1_Intron|CDC14A_uc001dte.4_Silent_p.G10G|CDC14A_uc009wed.1_5'UTR|CDC14A_uc001dtg.4_Silent_p.G10G|CDC14A_uc009wee.3_Silent_p.G10G|CDC14A_uc009wec.1_Silent_p.G10G	NM_033312	NP_201569	Q9UNH5	CC14A_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog A (S. cerevisiae) (CDC14A), transcript variant 2, mRNA.	10	A.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		AACTAATCGGGGCTTGTGAGT	0.627													18	49					6.33239e-15	7.99334e-15	0.010504	1	0	T	100818540	G	T	100818540	2	4	11	1	0	0	0	0	0	0	0	1	3056	1219	43	5		5	CDC14A	1	100818540	Silent	SNP	G	TCGA-CS-5397-01A-01D-1893-08	43061879	100818540	148432081	5	413											
VAV3	10451	broad.mit.edu	37	chr1	108507542	108507544	+	Splice_Site	DEL	GCC	GCC	-																															gggcgggcggcaaggatgcgGccgccgccgccgccgccgcg																								rs71796067		TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr1:108507542_108507544delGCC	uc001dvk.1	-	1	1	c.-53_splice	c.e1-1		VAV3_uc010ouw.1_Splice_Site|VAV3_uc001dvl.1_5'Flank|VAV3_uc010oux.1_Splice_Site	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.						B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CAAGGATGCGgccgccgccgccg	0.773													3	6	---	---	---	---						-	108507544	GCC	-	108507542	8	5	11	1	0	1	0	1	0	0	1	0	17130	1218	42	0		0	VAV3	1	108507542	Splice_Site	DEL	GCC	TCGA-CS-5397-01A-01D-1893-08	7689002	108507542	140743079	6	414											
PLEK	5341	broad.mit.edu	37	chr2	68620306	68620306	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatacaggggcatagaaggAaaaactggaaagtgaggaag	18	4	16	3	0	0	2	0	1	0	1	0	6	0	6	0	6	2	1	0	6	7	2			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr2:68620306A>G	uc002sen.4	+	6	937	c.775A>G	c.(775-777)Aaa>Gaa	p.K259E	PLEK_uc010fde.3_Missense_Mutation_p.K259E	NM_002664	NP_002655	P08567	PLEK_HUMAN	Homo sapiens pleckstrin (PLEK), mRNA.	259	PH 2.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GCATAGAAGGAAAAACTGGAA	0.433													51	127					0	0	0.01441	0	0	G	68620306	A	G	68620306	3	3	11	1	0	0	0	0	1	0	0	0	12053	247	9	3	801	3	PLEK	2	68620306	Missense_Mutation	SNP	A	TCGA-CS-5397-01A-01D-1893-08		68620306	174579067	7	415											
ANTXR1	84168	broad.mit.edu	37	chr2	69409664	69409664	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctccacagaagaaggtgctAagttggaaaaggcaaagaat	17	6	12	6	0	0	3	0	0	0	3	1	4	1	4	1	3	1	4	1	3	7	2			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr2:69409664A>G	uc002sfg.3	+	15	1581	c.1225A>G	c.(1225-1227)Aag>Gag	p.K409E		NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA.	409					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						AGAAGGTGCTAAGTTGGAAAA	0.433									Familial Infantile Hemangioma				23	46					0	0	0.014323	0	0	G	69409664	A	G	69409664	3	3	11	1	0	0	0	0	1	0	0	0	711	363	13	3	1364	3	ANTXR1	2	69409664	Missense_Mutation	SNP	A	TCGA-CS-5397-01A-01D-1893-08	789358	69409664	173789709	8	416											
SF3B1	23451	broad.mit.edu	37	chr2	198273241	198273241	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagtcggtgtttcaccAatagaatctccacctcgatc	10	10	8	13	2	2	1	1	0	1	1	6	3	2	2	4	2	0	1	4	2	3	2			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr2:198273241A>G	uc002uue.3	-	7	1017	c.969T>C	c.(967-969)atT>atC	p.I323I		NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	323	Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTGTTTCACCAATAGAATCTC	0.468			Mis		myelodysplastic syndrome								31	71					0	0	0.010818	0	0	G	198273241	A	G	198273241	2	3	11	1	0	0	0	0	0	0	0	1	14149	126	5	3		3	SF3B1	2	198273241	Silent	SNP	A	TCGA-CS-5397-01A-01D-1893-08	128863577	198273241	44926132	9	417											
VGLL3	389136	broad.mit.edu	37	chr3	87027678	87027678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcttttgaattcttacctCgccataggggggttagcccc	6	13	10	12	1	1	1	0	1	1	0	2	1	1	1	4	3	3	2	4	3	4	6			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr3:87027678C>T	uc003dqn.3	-	1	765	c.401G>A	c.(400-402)cGa>cAa	p.R134Q		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA.	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		ATTCTTACCTCGCCATAGGGG	0.502													34	97					0	0	0.003271	0	0	T	87027678	C	T	87027678	3	4	11	1	0	0	0	0	1	0	0	0	17157	884	31	2	591	2	VGLL3	3	87027678	Missense_Mutation	SNP	C	TCGA-CS-5397-01A-01D-1893-08		87027678	110994752	10	418											
PDE6B	5158	broad.mit.edu	37	chr4	619541	619541	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcgaggacgggtgcccgccGgactgcgacagcctccggga	6	4	17	14	6	0	0	0	0	0	0	1	5	1	3	4	4	4	0	4	4	0	0			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr4:619541G>A	uc003gap.3	+	0	179	c.126G>A	c.(124-126)ccG>ccA	p.P42P	PDE6B_uc003gao.4_Silent_p.P42P	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	42					GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.P42Q(1)		NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GGTGCCCGCCGGACTGCGACA	0.642													17	36					0	0	0.007413	0	0	A	619541	G	A	619541	2	1	11	1	0	0	0	0	0	0	0	1	11646	1103	39	2		2	PDE6B	4	619541	Silent	SNP	G	TCGA-CS-5397-01A-01D-1893-08		619541	190534735	11	419											
WDFY3	23001	broad.mit.edu	37	chr4	85612794	85612794	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgcaaaccttgtctgacTcataggttcccagtctgcaa	11	12	7	11	0	3	1	1	1	2	0	4	1	4	1	2	1	3	3	2	1	4	4			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr4:85612794T>A	uc003hpd.3	-	59	9602	c.9194A>T	c.(9193-9195)gAg>gTg	p.E3065V	WDFY3_uc003hpe.1_Missense_Mutation_p.E676V	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	3065						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTTGTCTGACTCATAGGTTCC	0.438													28	52					0	0	0.012213	0	0	A	85612794	T	A	85612794	3	1	11	1	0	0	0	0	1	0	0	0	17267	1551	54	5	1422	5	WDFY3	4	85612794	Missense_Mutation	SNP	T	TCGA-CS-5397-01A-01D-1893-08	84993253	85612794	105541482	12	420											
FSTL5	56884	broad.mit.edu	37	chr4	162463805	162463805	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagttaccccaggctcTctagcctgactctctggata	7	11	9	14	0	2	1	0	1	2	0	4	2	2	2	3	3	2	3	3	3	3	3			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr4:162463805T>C	uc003iqh.3	-	8	1492	c.1056A>G	c.(1054-1056)agA>agG	p.R352R	FSTL5_uc003iqi.3_Silent_p.R351R|FSTL5_uc010iqv.3_Silent_p.R351R	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	352	Ig-like 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CCCCAGGCTCTCTAGCCTGAC	0.423													33	78					0	0	0.005524	0	0	C	162463805	T	C	162463805	2	2	11	1	0	0	0	0	0	0	0	1	6080	1548	54	4		4	FSTL5	4	162463805	Silent	SNP	T	TCGA-CS-5397-01A-01D-1893-08	76851011	162463805	28690471	13	421											
DNAH5	1767	broad.mit.edu	37	chr5	13923478	13923478	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagagccacatcgtttccctCggtcacgaacaccttaggtt	10	10	8	13	3	1	1	1	0	0	1	4	2	2	1	3	2	2	2	3	2	3	3	rs116128702	by1000genomes	TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr5:13923478C>T	uc003jfd.2	-	3	391	c.349G>A	c.(349-351)Gag>Aag	p.E117K	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	117	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCGTTTCCCTCGGTCACGAAC	0.448									Kartagener syndrome				67	134					0	0	0.01441	0	0	T	13923478	C	T	13923478	3	4	11	1	0	0	0	0	1	0	0	0	4604	893	31	2	13829	2	DNAH5	5	13923478	Missense_Mutation	SNP	C	TCGA-CS-5397-01A-01D-1893-08		13923478	166991782	14	422											
HEATR7B2	133558	broad.mit.edu	37	chr5	41055887	41055887	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaagtcaagattcccacTcgaatggcttcattattact	14	12	5	10	1	2	1	2	0	0	1	4	2	3	1	1	1	2	1	1	1	6	4			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr5:41055887T>A	uc003jmj.4	-	9	1480	c.990A>T	c.(988-990)cgA>cgT	p.R330R	HEATR7B2_uc003jmi.4_Intron	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	330							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						AGATTCCCACTCGAATGGCTT	0.413													40	88					0	0	0.011902	0	0	A	41055887	T	A	41055887	2	1	11	1	0	0	0	0	0	0	0	1	7035	1538	54	5		5	HEATR7B2	5	41055887	Silent	SNP	T	TCGA-CS-5397-01A-01D-1893-08	27132409	41055887	139859373	15	423											
PCDHB1	29930	broad.mit.edu	37	chr5	140431875	140431875	+	Frame_Shift_Del	DEL	A	A	-																															tggacctagacgagggcaccAacaaagcgataacttactct																										TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr5:140431875delA	uc003lik.1	+	0	897	c.820delA	c.(820-822)aacfs	p.N274fs		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	274	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGGGCACCAACAAAGCGAT	0.512													14	47	---	---	---	---						-	140431875	A	-	140431875	7	5	11	1	0	1	0	1	0	0	0	0	11534	130	5	0	822	0	PCDHB1	5	140431875	Frame_Shift_Del	DEL	A	TCGA-CS-5397-01A-01D-1893-08	99375988	140431875	40483385	16	424											
GABRG2	2566	broad.mit.edu	37	chr5	161580182	161580182	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagagagagatgaagagtaCggctatgagtgtctggacgg	13	7	16	5	2	1	5	0	2	1	3	1	8	1	6	0	3	1	2	0	3	4	2			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr5:161580182C>T	uc010jjc.3	+	10	1714	c.1356C>T	c.(1354-1356)taC>taT	p.Y452Y	GABRG2_uc003lyy.4_Silent_p.Y412Y|GABRG2_uc003lyz.4_Silent_p.Y404Y|GABRG2_uc011dej.2_Silent_p.Y309Y	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	404					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding	p.Y452C(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		ATGAAGAGTACGGCTATGAGT	0.488													7	131					0	0	0.001984	0	0	T	161580182	C	T	161580182	2	4	11	1	0	0	0	0	0	0	0	1	6172	547	19	1		1	GABRG2	5	161580182	Silent	SNP	C	TCGA-CS-5397-01A-01D-1893-08	21148307	161580182	19335078	17	425											
ULBP1	80329	broad.mit.edu	37	chr6	150289853	150289853	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttttcttcactatgacTgtgttaaccacaaggccaaa	11	12	7	11	0	2	1	1	1	1	0	2	1	2	1	3	2	1	1	3	2	4	5			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr6:150289853T>A	uc003qnp.3	+	1	239	c.196T>A	c.(196-198)Tgt>Agt	p.C66S		NM_025218	NP_079494	Q9BZM6	N2DL1_HUMAN	Homo sapiens UL16 binding protein 1 (ULBP1), mRNA.	66	MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	MHC class I protein complex|anchored to membrane|endoplasmic reticulum	MHC class I receptor activity			large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		TCACTATGACTGTGTTAACCA	0.453													60	71					0	0	0.01441	0	0	A	150289853	T	A	150289853	3	1	11	1	0	0	0	0	1	0	0	0	16969	1580	55	5	202	5	ULBP1	6	150289853	Missense_Mutation	SNP	T	TCGA-CS-5397-01A-01D-1893-08		150289853	20825214	18	426											
C7orf34	135927	broad.mit.edu	37	chr7	142637545	142637545	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaccagtcgtccaagacGgcagctgttcacaagcactc	12	6	10	13	2	1	2	1	0	0	2	4	3	2	2	2	1	2	4	2	1	3	1			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr7:142637545G>A	uc003wca.2	+	1	356	c.315G>A	c.(313-315)acG>acA	p.T105T		NM_178829	NP_849151	Q96L11	CG034_HUMAN	Homo sapiens chromosome 7 open reading frame 34 (C7orf34), mRNA.	80						extracellular region		p.G105G(1)		large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					CGTCCAAGACGGCAGCTGTTC	0.532													48	174					0	0	0.01441	0	0	A	142637545	G	A	142637545	2	1	11	1	0	0	0	0	0	0	0	1	2389	1103	39	2		2	C7orf34	7	142637545	Silent	SNP	G	TCGA-CS-5397-01A-01D-1893-08		142637545	16501118	19	427											
MLL3	58508	broad.mit.edu	37	chr7	151945104	151945104	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgatgtttccagcagaggaActaagagctgaagggtaatt	14	10	12	5	0	0	4	0	2	0	2	1	5	1	5	1	2	3	4	1	2	4	4			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr7:151945104A>T	uc003wla.3	-	13	2634	c.2415T>A	c.(2413-2415)agT>agA	p.S805R		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	805					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CAGCAGAGGAACTAAGAGCTG	0.438			N		medulloblastoma								51	794					0	0	0.01441	0	0	T	151945104	A	T	151945104	3	4	11	1	0	0	0	0	1	0	0	0	9622	40	2	5	12504	5	MLL3	7	151945104	Missense_Mutation	SNP	A	TCGA-CS-5397-01A-01D-1893-08	9307559	151945104	7193559	20	428											
PSD3	23362	broad.mit.edu	37	chr8	18725328	18725328	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatcctgatgtcctccccctGatgtcctctccaagaactga	8	12	6	15	0	1	4	0	3	1	1	6	4	5	4	6	0	1	0	6	0	3	1			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr8:18725328G>C	uc003wza.3	-	3	1593	c.1490C>G	c.(1489-1491)tCa>tGa	p.S497*		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	497					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TCCTCCCCCTGATGTCCTCTC	0.488													74	180					0	0	0.01441	0	0	C	18725328	G	C	18725328	4	2	11	1	0	0	0	0	0	1	0	0	12648	1294	45	5	1741	5	PSD3	8	18725328	Nonsense_Mutation	SNP	G	TCGA-CS-5397-01A-01D-1893-08		18725328	127638694	21	429											
TLN1	7094	broad.mit.edu	37	chr9	35714763	35714763	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctagagtcttaccttgcaGctctgcaccagcaggggctg	7	10	11	13	0	2	1	0	0	2	1	3	1	3	1	3	2	5	5	3	2	2	3			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr9:35714763G>C	uc003zxt.2	-	21	3219	c.2865C>G	c.(2863-2865)agC>agG	p.S955R		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	955					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTACCTTGCAGCTCTGCACCA	0.597													11	184					0	0	0.010729	0	0	C	35714763	G	C	35714763	3	2	11	1	0	0	0	0	1	0	0	0	15944	962	34	5	4904	5	TLN1	9	35714763	Missense_Mutation	SNP	G	TCGA-CS-5397-01A-01D-1893-08		35714763	105498668	22	430											
FAM120A	23196	broad.mit.edu	37	chr9	96326729	96326729	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aataatgactctaaaacgtgCaatacaaatcctcatttaaa	19	11	3	8	1	2	1	1	1	1	0	3	1	3	1	1	0	3	1	1	0	9	5			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr9:96326729C>T	uc004atw.3	+	17	3289	c.3264C>T	c.(3262-3264)tgC>tgT	p.C1088C	FAM120A_uc004aty.3_Silent_p.C869C|FAM120A_uc004atz.3_Silent_p.C736C|FAM120A_uc010mrg.3_Silent_p.C355C|FAM120A_uc004aua.1_Non-coding_Transcript	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	Homo sapiens family with sequence similarity 120A (FAM120A), mRNA.	1088	RNA binding.					cytoplasm|plasma membrane	RNA binding	p.T1087M(1)		endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTAAAACGTGCAATACAAATC	0.502													10	171					0	0	0.001855	0	0	T	96326729	C	T	96326729	2	4	11	1	0	0	0	0	0	0	0	1	5415	718	25	3		3	FAM120A	9	96326729	Silent	SNP	C	TCGA-CS-5397-01A-01D-1893-08	60611966	96326729	44886702	23	431											
KIAA0368	23392	broad.mit.edu	37	chr9	114246646	114246646	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggaaacacgcctgtccaaAggaagagacgtggactcaga	14	4	14	9	2	1	2	1	0	0	2	2	6	2	5	2	4	1	0	2	4	3	0			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr9:114246646A>C	uc004bfe.1	-	1	267	c.267T>G	c.(265-267)ccT>ccG	p.P89P	KIAA0368_uc010muc.1_5'Flank	NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GCCTGTCCAAAGGAAGAGACG	0.697													9	24					0	0	0.010729	0	0	C	114246646	A	C	114246646	2	2	11	1	0	0	0	0	0	0	0	1	8171	59	3	5		5	KIAA0368	9	114246646	Silent	SNP	A	TCGA-CS-5397-01A-01D-1893-08	17919917	114246646	26966785	24	432											
RRM1	6240	broad.mit.edu	37	chr11	4159521	4159521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agctaaaagataaagaaaagGtatcaaaagaggaagaagag	24	4	11	2	0	1	5	1	0	0	5	1	6	1	6	0	2	1	2	0	2	11	3	rs112706528		TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr11:4159521G>A	uc001lyw.4	+	18	2606	c.2287G>A	c.(2287-2289)Gta>Ata	p.V763I	RRM1_uc009yej.2_Non-coding_Transcript|RRM1_uc009yei.3_Missense_Mutation_p.V723I|RRM1_uc010qyc.2_Missense_Mutation_p.V666I|RRM1_uc010qyd.2_Missense_Mutation_p.V425I	NM_001033	NP_001024	P23921	RIR1_HUMAN	Homo sapiens ribonucleotide reductase M1 (RRM1), mRNA.	763					DNA replication|deoxyribonucleotide biosynthetic process|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	TAAAGAAAAGGTATCAAAAGA	0.418													17	55					0	0	0.006122	0	0	A	4159521	G	A	4159521	3	1	11	1	0	0	0	0	1	0	0	0	13681	1261	44	3	2361	3	RRM1	11	4159521	Missense_Mutation	SNP	G	TCGA-CS-5397-01A-01D-1893-08		4159521	130846995	25	433											
OR4S1	256148	broad.mit.edu	37	chr11	48328354	48328354	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagacacctacatggtaGgtctcatcgtggtggccaac	9	9	12	11	1	1	1	1	0	1	1	3	1	1	1	2	4	3	2	2	4	3	2			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr11:48328354G>T	uc010rhu.2	+	0	580	c.580G>T	c.(580-582)Ggt>Tgt	p.G194C		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CTACATGGTAGGTCTCATCGT	0.453													41	64					6.45866e-13	8.02124e-13	0.00874	1	0	T	48328354	G	T	48328354	3	4	11	1	0	0	0	0	1	0	0	0	11082	1000	35	5	582	5	OR4S1	11	48328354	Missense_Mutation	SNP	G	TCGA-CS-5397-01A-01D-1893-08	44168833	48328354	86678162	26	434											
OR8K1	390157	broad.mit.edu	37	chr11	56113589	56113589	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctcatggggattacagaCaaccctgggctgcaggctcc	9	9	11	12	0	1	1	1	0	1	1	3	2	2	2	2	4	3	3	2	4	2	2			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr11:56113589C>A	uc010rjg.2	+	0	75	c.75C>A	c.(73-75)gaC>gaA	p.D25E		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 1 (OR8K1), mRNA.	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					GGATTACAGACAACCCTGGGC	0.443										HNSCC(65;0.19)			15	65					2.89027e-11	3.42386e-11	0.014323	1	0	A	56113589	C	A	56113589	3	1	11	1	0	0	0	0	1	0	0	0	11243	477	17	5	77	5	OR8K1	11	56113589	Missense_Mutation	SNP	C	TCGA-CS-5397-01A-01D-1893-08	7785235	56113589	78892927	27	435											
ZNF202	7753	broad.mit.edu	37	chr11	123601198	123601198	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggactccccctcctcacccaCcgccttggtctcctgggttg	3	10	9	19	1	2	0	1	0	1	0	5	1	4	1	7	3	0	1	7	3	0	2			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr11:123601198C>A	uc001pzd.1	-	3	799	c.399G>T	c.(397-399)cgG>cgT	p.R133R	ZNF202_uc001pzc.1_Intron|ZNF202_uc001pze.1_Silent_p.R133R|ZNF202_uc001pzf.1_Silent_p.R133R	NM_003455	NP_003446	O95125	ZN202_HUMAN	Homo sapiens zinc finger protein 202 (ZNF202), mRNA.	133					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TCCTCACCCACCGCCTTGGTC	0.582													35	82					1.69901e-12	2.07657e-12	0.005524	1	0	A	123601198	C	A	123601198	2	1	11	1	0	0	0	0	0	0	0	1	17760	494	18	5		5	ZNF202	11	123601198	Silent	SNP	C	TCGA-CS-5397-01A-01D-1893-08	67487609	123601198	11405318	28	436											
FGF6	2251	broad.mit.edu	37	chr12	4553372	4553372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccaaagagactcaccacgCctcgctccacagtggaaatt	12	7	7	15	2	1	1	1	0	0	1	4	3	3	2	4	1	0	1	4	1	2	1			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr12:4553372C>T	uc001qmr.1	-	1	421	c.377G>A	c.(376-378)gGc>gAc	p.G126D		NM_020996	NP_066276	P10767	FGF6_HUMAN	Homo sapiens fibroblast growth factor 6 (FGF6), mRNA.	126					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity	p.R125Q(1)|p.R125*(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			ACTCACCACGCCTCGCTCCAC	0.542													21	41					0	0	0.00278	0	0	T	4553372	C	T	4553372	3	4	11	1	0	0	0	0	1	0	0	0	5856	739	26	3	257	3	FGF6	12	4553372	Missense_Mutation	SNP	C	TCGA-CS-5397-01A-01D-1893-08		4553372	129298523	29	437											
PKP2	5318	broad.mit.edu	37	chr12	32974416	32974416	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgccacagccactccacGcccttggggttgctcttttc	6	11	9	15	1	1	0	0	0	1	0	3	1	2	0	4	2	3	2	4	2	1	4			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr12:32974416G>A	uc001rlj.4	-	9	2134	c.2019C>T	c.(2017-2019)ggC>ggT	p.G673G	PKP2_uc001rlk.4_Silent_p.G629G|PKP2_uc010skj.2_Silent_p.G626G	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	673			G -> V (in a patient with arrhythmogenic right ventricular cardiomyopathy).		cell-cell adhesion	desmosome|integral to membrane|nucleus	binding	p.K672R(1)		NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GCCACTCCACGCCCTTGGGGT	0.493													22	72					0	0	0.00278	0	0	A	32974416	G	A	32974416	2	1	11	1	0	0	0	0	0	0	0	1	11985	1074	38	1		1	PKP2	12	32974416	Silent	SNP	G	TCGA-CS-5397-01A-01D-1893-08	28421044	32974416	100877479	30	438											
NOS1	4842	broad.mit.edu	37	chr12	117705872	117705872	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagctatagagaaccgcgatAttgatctccaccagcgcctg	12	8	9	12	3	1	2	0	1	1	1	2	4	1	2	4	0	3	1	4	0	5	4			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr12:117705872A>G	uc001twn.2	-	10	2628	c.1917T>C	c.(1915-1917)aaT>aaC	p.N639N	NOS1_uc021ren.1_Silent_p.N303N|NOS1_uc021reo.1_Silent_p.N303N|NOS1_uc001twm.2_Silent_p.N639N	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	639					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GAACCGCGATATTGATCTCCA	0.512													29	62					0	0	0.010818	0	0	G	117705872	A	G	117705872	2	3	11	1	0	0	0	0	0	0	0	1	10541	446	16	3		3	NOS1	12	117705872	Silent	SNP	A	TCGA-CS-5397-01A-01D-1893-08	84731456	117705872	16146023	31	439											
TP53BP1	7158	broad.mit.edu	37	chr15	43714318	43714318	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactctacaattggctcttCagtctcctgcaaggaaaaaa	14	10	6	11	0	4	0	1	0	3	0	5	1	4	1	1	2	2	2	1	2	6	3			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr15:43714318C>A	uc001zrs.3	-	18	3968	c.3820G>T	c.(3820-3822)Gaa>Taa	p.E1274*	TP53BP1_uc010udp.2_Nonsense_Mutation_p.E1274*|TP53BP1_uc001zrq.4_Nonsense_Mutation_p.E1279*|TP53BP1_uc001zrr.4_Nonsense_Mutation_p.E1279*|TP53BP1_uc010udq.1_Nonsense_Mutation_p.E1279*	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	1274					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ATTGGCTCTTCAGTCTCCTGC	0.433								Other conserved DNA damage response genes					28	56					1.88708e-17	2.42176e-17	0.008361	1	0	A	43714318	C	A	43714318	4	1	11	1	0	0	0	0	0	1	0	0	16380	835	29	5	2138	5	TP53BP1	15	43714318	Nonsense_Mutation	SNP	C	TCGA-CS-5397-01A-01D-1893-08		43714318	58817074	32	440											
GDPD3	79153	broad.mit.edu	37	chr16	30119725	30119725	+	Frame_Shift_Del	DEL	G	G	-																															cacagccaataactggttcaGgcaagagcaggaaaatggga																										TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr16:30119725delG	uc002dwp.3	-	7	815	c.736delC	c.(736-738)ctgfs	p.L246fs	BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.3_Frame_Shift_Del_p.L184fs	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 3 (GDPD3), mRNA.	246	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						AACTGGTTCAGGCAAGAGCAG	0.577													128	214	---	---	---	---						-	30119725	G	-	30119725	7	5	11	1	0	1	0	1	0	0	0	0	6325	991	35	0	232	0	GDPD3	16	30119725	Frame_Shift_Del	DEL	G	TCGA-CS-5397-01A-01D-1893-08		30119725	60235028	33	441											
NF1	4763	broad.mit.edu	37	chr17	29563007	29563007	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgatcacatcctctgattgGcaacatgttagctttgaagt	10	14	9	8	0	2	3	1	3	1	0	3	3	3	3	1	1	2	3	1	1	3	3			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr17:29563007G>A	uc002hgg.3	+	28	4325	c.3942G>A	c.(3940-3942)tgG>tgA	p.W1314*	NF1_uc002hgh.3_Nonsense_Mutation_p.W1314*|NF1_uc010csn.2_Nonsense_Mutation_p.W1174*|NF1_uc002hgi.1_Nonsense_Mutation_p.W347*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1314	Ras-GAP.				MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCTCTGATTGGCAACATGTTA	0.348			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			31	43					0	0	0.013726	0	0	A	29563007	G	A	29563007	4	1	11	1	0	0	0	0	0	1	0	0	10356	1212	42	3	4117	3	NF1	17	29563007	Nonsense_Mutation	SNP	G	TCGA-CS-5397-01A-01D-1893-08		29563007	51632203	34	442											
SPACA3	124912	broad.mit.edu	37	chr17	31323997	31323997	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccccgaacgtccccaaCgtgtgccggatgtactgctc	7	8	9	17	4	1	0	1	0	0	0	3	2	2	1	5	1	5	2	5	1	3	1			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr17:31323997C>A	uc002hhs.1	+	2	555	c.480C>A	c.(478-480)aaC>aaA	p.N160K	SPACA3_uc010cte.1_Non-coding_Transcript	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	Homo sapiens sperm acrosome associated 3 (SPACA3), mRNA.	160					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding	p.N160I(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			ACGTCCCCAACGTGTGCCGGA	0.582													32	40					1.414e-09	1.64967e-09	0.003755	1	0	A	31323997	C	A	31323997	3	1	11	1	0	0	0	0	1	0	0	0	14973	535	19	5	490	5	SPACA3	17	31323997	Missense_Mutation	SNP	C	TCGA-CS-5397-01A-01D-1893-08	1760990	31323997	49871213	35	443											
ACAA2	10449	broad.mit.edu	37	chr18	47311703	47311703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcaacagccaagtactgggGagcaaaagcttcattcacct	13	8	8	12	0	3	0	3	0	0	0	3	1	3	1	2	2	5	3	2	2	5	3			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr18:47311703G>A	uc002ldw.4	-	8	1370	c.973C>T	c.(973-975)Ccc>Tcc	p.P325S		NM_006111	NP_006102	P42765	THIM_HUMAN	Homo sapiens acetyl-CoA acyltransferase 2 (ACAA2), nuclear gene encoding mitochondrial protein, mRNA.	325					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			large_intestine(2)|lung(7)|ovary(1)	10						AAGTACTGGGGAGCAAAAGCT	0.403													5	24					0	0	0.000602	0	0	A	47311703	G	A	47311703	3	1	11	1	0	0	0	0	1	0	0	0	105	1174	41	3	228	3	ACAA2	18	47311703	Missense_Mutation	SNP	G	TCGA-CS-5397-01A-01D-1893-08		47311703	30765545	36	444											
SERPINB3	6317	broad.mit.edu	37	chr18	61326675	61326675	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctccgaagagcttgttggcGatcttcagctcatatgcatc	8	13	9	11	2	4	1	2	0	2	1	6	3	4	1	1	1	3	4	1	1	2	4			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr18:61326675G>A	uc002lji.3	-	3	453	c.309C>T	c.(307-309)atC>atT	p.I103I	SERPINB3_uc002ljg.3_Silent_p.I103I|SERPINB3_uc010dqa.3_Silent_p.I103I|SERPINB3_uc010dqb.3_Silent_p.I103I	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	103					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GCTTGTTGGCGATCTTCAGCT	0.398													28	89					0	0	0.004656	0	0	A	61326675	G	A	61326675	2	1	11	1	0	0	0	0	0	0	0	1	14102	1048	37	2		2	SERPINB3	18	61326675	Silent	SNP	G	TCGA-CS-5397-01A-01D-1893-08	14014972	61326675	16750573	37	445											
UNC13A	23025	broad.mit.edu	37	chr19	17778978	17778978	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagcttcttggcccagtagCgagcctcctcttcaggaatg	7	10	10	14	1	3	0	1	0	2	0	4	2	4	1	4	2	3	2	4	2	2	4			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr19:17778978C>A	uc021uqk.1	-	5	458	c.416G>T	c.(415-417)cGc>cTc	p.R139L		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	139					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGCCCAGTAGCGAGCCTCCTC	0.582													12	30					5.50884e-06	6.05972e-06	0.013537	1	0	A	17778978	C	A	17778978	3	1	11	1	0	0	0	0	1	0	0	0	16981	768	27	5	4843	5	UNC13A	19	17778978	Missense_Mutation	SNP	C	TCGA-CS-5397-01A-01D-1893-08		17778978	41350005	38	446											
HAUS5	23354	broad.mit.edu	37	chr19	36108982	36108982	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccccctagacgctgctgAcaaaccaccccccaggccac	9	4	6	22	1	0	2	0	1	0	1	1	2	1	2	8	1	2	2	8	1	2	1			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr19:36108982A>G	uc002oam.1	+	9	757	c.706A>G	c.(706-708)Aca>Gca	p.T236A		NM_015302	NP_056117	O94927	HAUS5_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 5 (HAUS5), mRNA.	236					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						GACGCTGCTGACAAACCACCC	0.637													44	142					0	0	0.007835	0	0	G	36108982	A	G	36108982	3	3	11	1	0	0	0	0	1	0	0	0	6969	275	10	3	744	3	HAUS5	19	36108982	Missense_Mutation	SNP	A	TCGA-CS-5397-01A-01D-1893-08	18330004	36108982	23020001	39	447											
ACSS1	84532	broad.mit.edu	37	chr20	24988511	24988511	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcctgggcctcactagTgatgatcttcctcaggagcc	7	10	10	14	0	3	2	2	2	1	0	5	3	5	3	4	2	2	1	4	2	1	2			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr20:24988511T>A	uc002wub.3	-	13	2037	c.1957A>T	c.(1957-1959)Act>Tct	p.T653S	ACSS1_uc002wuc.3_Missense_Mutation_p.T651S|ACSS1_uc021wbm.1_Intron|ACSS1_uc010gdc.3_Missense_Mutation_p.T448S|ACSS1_uc002wua.3_Missense_Mutation_p.T570S|ACSS1_uc021wbl.1_Missense_Mutation_p.T532S|ACSS1_uc002wud.1_Non-coding_Transcript	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 1 (ACSS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	653					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	AMP binding|ATP binding|acetate-CoA ligase activity|protein binding	p.I652M(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCCTCACTAGTGATGATCTTC	0.562													4	117					0	0	0.000602	0	0	A	24988511	T	A	24988511	3	1	11	1	0	0	0	0	1	0	0	0	188	1696	59	5	116	5	ACSS1	20	24988511	Missense_Mutation	SNP	T	TCGA-CS-5397-01A-01D-1893-08		24988511	38037009	40	448											
TRPC4AP	26133	broad.mit.edu	37	chr20	33657162	33657162	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggtttcttgggtaagtttCctctcttcagtaacaaatgc	8	16	9	8	0	3	0	1	0	2	0	5	0	4	0	1	2	2	4	1	2	3	6			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr20:33657162C>A	uc002xbk.3	-	2	385	c.351G>T	c.(349-351)agG>agT	p.R117S	TRPC4AP_uc010zur.2_Intron|TRPC4AP_uc002xbl.3_Missense_Mutation_p.R117S|TRPC4AP_uc002xbm.1_Missense_Mutation_p.R117S|TRPC4AP_uc021wci.1_Missense_Mutation_p.R117S	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 associated protein (TRPC4AP), transcript variant 1, mRNA.	117	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GGGTAAGTTTCCTCTCTTCAG	0.333													15	105					4.7546e-09	5.46425e-09	0.004007	1	0	A	33657162	C	A	33657162	3	1	11	1	0	0	0	0	1	0	0	0	16578	854	30	5	2110	5	TRPC4AP	20	33657162	Missense_Mutation	SNP	C	TCGA-CS-5397-01A-01D-1893-08	8668651	33657162	29368358	41	449											
ZNF831	128611	broad.mit.edu	37	chr20	57829784	57829784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgacgatgaagaccgattaGttatagaaatatgaagcttc	15	10	10	6	3	0	4	0	2	0	2	1	7	0	4	1	0	1	2	1	0	7	5			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr20:57829784G>A	uc002yan.3	+	4	5020	c.5020G>A	c.(5020-5022)Gtt>Att	p.V1674I		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1674						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGACCGATTAGTTATAGAAAT	0.443													15	78					0	0	0.004007	0	0	A	57829784	G	A	57829784	3	1	11	1	0	0	0	0	1	0	0	0	18182	1029	36	3	5038	3	ZNF831	20	57829784	Missense_Mutation	SNP	G	TCGA-CS-5397-01A-01D-1893-08	24172622	57829784	5195736	42	450											
TMEM27	57393	broad.mit.edu	37	chrX	15682843	15682843	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatttcaaggctacatacctGgttgacagagttcagcatga	13	11	9	8	0	2	3	2	2	0	1	2	3	2	3	1	2	3	4	1	2	4	5			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chrX:15682843G>C	uc004cxc.2	-	0	312	c.56C>G	c.(55-57)cCa>cGa	p.P19R		NM_020665	NP_065716	Q9HBJ8	TMM27_HUMAN	Homo sapiens transmembrane protein 27 (TMEM27), mRNA.	19					proteolysis	integral to membrane	metallopeptidase activity|peptidyl-dipeptidase activity			endometrium(3)|lung(4)|ovary(1)	8	Hepatocellular(33;0.183)					CTACATACCTGGTTGACAGAG	0.363													33	63					0	0	0.004289	0	0	C	15682843	G	C	15682843	3	2	11	1	0	0	0	0	1	0	0	0	16149	1348	47	5	636	5	TMEM27	23	15682843	Missense_Mutation	SNP	G	TCGA-CS-5397-01A-01D-1893-08		15682843	139587717	43	451											
MAP7D2	256714	broad.mit.edu	37	chrX	20044027	20044027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggagaccctgggtagggagGtttcgttgtctttggagact	7	12	16	6	1	1	2	0	0	1	2	2	5	1	3	1	5	0	3	1	5	1	4			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chrX:20044027G>A	uc010nfo.2	-	8	1168	c.1051C>T	c.(1051-1053)Cct>Tct	p.P351S	MAP7D2_uc004czq.2_Missense_Mutation_p.P195S|MAP7D2_uc011mji.2_Missense_Mutation_p.P258S|MAP7D2_uc004czr.2_Missense_Mutation_p.P310S|MAP7D2_uc011mjj.2_Missense_Mutation_p.P265S	NM_001168465	NP_001161937	Q96T17	MA7D2_HUMAN	Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA.	310								p.Q350R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GGGTAGGGAGGTTTCGTTGTC	0.488													99	245					0	0	0.01441	0	0	A	20044027	G	A	20044027	3	1	11	1	0	0	0	0	1	0	0	0	9268	1261	44	3	1302	3	MAP7D2	23	20044027	Missense_Mutation	SNP	G	TCGA-CS-5397-01A-01D-1893-08	4361184	20044027	135226533	44	452											
DMD	1756	broad.mit.edu	37	chrX	31747756	31747756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaaaaacttacttcgatccGtaatgattgttctagcctct	12	15	5	9	2	2	1	0	1	2	0	4	2	3	1	2	0	3	2	2	0	6	7			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chrX:31747756G>A	uc004dda.1	-	51	7896	c.7652C>T	c.(7651-7653)aCg>aTg	p.T2551M	DMD_uc004dcr.1_Missense_Mutation_p.T91M|DMD_uc004dcs.1_Missense_Mutation_p.T91M|DMD_uc004dct.1_Missense_Mutation_p.T91M|DMD_uc004dcu.1_Missense_Mutation_p.T91M|DMD_uc004dcv.1_Missense_Mutation_p.T91M|DMD_uc004dcw.2_Missense_Mutation_p.T1207M|DMD_uc004dcx.2_Missense_Mutation_p.T1210M|DMD_uc004dcz.2_Missense_Mutation_p.T2428M|DMD_uc004dcy.1_Missense_Mutation_p.T2547M|DMD_uc004ddb.1_Missense_Mutation_p.T2543M|DMD_uc004ddd.1_Missense_Mutation_p.T91M	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	2551					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.T2546M(2)|p.T91M(2)|p.T2547M(2)|p.T1210M(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACTTCGATCCGTAATGATTGT	0.393													69	157					0	0	0.01441	0	0	A	31747756	G	A	31747756	3	1	11	1	0	0	0	0	1	0	0	0	4580	1145	40	1	3665	1	DMD	23	31747756	Missense_Mutation	SNP	G	TCGA-CS-5397-01A-01D-1893-08	11703729	31747756	123522804	45	453											
BCOR	54880	broad.mit.edu	37	chrX	39932304	39932304	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctagtttccaaaatctcGgaaaaccgattccggagggt	11	10	10	10	3	1	0	0	0	1	0	4	3	3	2	3	3	2	2	3	3	5	3			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chrX:39932304G>A	uc004den.4	-	3	2587	c.2295C>T	c.(2293-2295)tcC>tcT	p.S765S	BCOR_uc004dep.4_Silent_p.S765S|BCOR_uc004deo.4_Silent_p.S765S|BCOR_uc004dem.4_Silent_p.S765S|BCOR_uc004deq.4_Silent_p.S765S	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	765					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						CCAAAATCTCGGAAAACCGAT	0.512			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						99	209					0	0	0.01441	0	0	A	39932304	G	A	39932304	2	1	11	1	0	0	0	0	0	0	0	1	1386	1103	39	2		2	BCOR	23	39932304	Silent	SNP	G	TCGA-CS-5397-01A-01D-1893-08	8184548	39932304	115338256	46	454											
ZNF41	7592	broad.mit.edu	37	chrX	47308566	47308566	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttctattatgattatgtgaGtttaaagtatgcttcaaaat	13	19	6	3	0	2	2	1	2	1	0	2	2	2	2	0	0	1	3	0	0	8	8			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chrX:47308566G>T	uc004dhs.4	-	3	796	c.729C>A	c.(727-729)aaC>aaA	p.N243K	ZNF41_uc004dhu.4_Missense_Mutation_p.N235K|ZNF41_uc004dht.4_Missense_Mutation_p.N115K|ZNF41_uc004dhv.4_Missense_Mutation_p.N211K|ZNF41_uc004dhw.4_Missense_Mutation_p.N203K|ZNF41_uc004dhy.4_Missense_Mutation_p.N201K|ZNF41_uc004dhx.4_Missense_Mutation_p.N201K|ZNF41_uc011mlm.2_Missense_Mutation_p.N115K	NM_153380	NP_700359	P51814	ZNF41_HUMAN	Homo sapiens zinc finger protein 41 (ZNF41), transcript variant 2, mRNA.	243						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N201K(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				GATTATGTGAGTTTAAAGTAT	0.328													46	117					6.87076e-12	8.26639e-12	0.01441	1	0	T	47308566	G	T	47308566	3	4	11	1	0	0	0	0	1	0	0	0	17886	1020	36	5	1740	5	ZNF41	23	47308566	Missense_Mutation	SNP	G	TCGA-CS-5397-01A-01D-1893-08	7376262	47308566	107961994	47	455											
SLC1A7	6512	broad.mit.edu	37	chr1	53553886	53553886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcactggcttggtctcgCagggcagcagtttctggtga	5	11	15	10	1	3	1	1	1	2	0	4	1	3	1	0	5	1	6	0	5	0	2			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr1:53553886C>T	uc021onn.1	-	10	1823	c.1655G>A	c.(1654-1656)tGc>tAc	p.C552Y	SLC1A7_uc021onm.1_Silent_p.L427L|SLC1A7_uc001cux.3_Missense_Mutation_p.C146Y|SLC1A7_uc001cuy.3_Missense_Mutation_p.C493Y|SLC1A7_uc021ono.1_Non-coding_Transcript	NM_006671	NP_006662	O00341	EAA5_HUMAN	Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	493						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.I551I(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	CTTGGTCTCGCAGGGCAGCAG	0.607													5	11					0	0	1	0	0	T	53553886	C	T	53553886	3	4	12	1	0	0	0	0	1	0	0	0	14437	710	25	3	208	3	SLC1A7	1	53553886	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08		53553886	195696735	1	456											
SELE	6401	broad.mit.edu	37	chr1	169698637	169698637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacaactctacctttacacGttggcttctcgttgtcccaa	9	13	6	13	2	2	0	0	0	2	0	4	1	3	0	2	1	4	3	2	1	5	6			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr1:169698637G>A	uc001ggm.4	-	5	1050	c.893C>T	c.(892-894)aCg>aTg	p.T298M	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	298	Sushi 2.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					ACCTTTACACGTTGGCTTCTC	0.443													34	33					0	0	1	0	0	A	169698637	G	A	169698637	3	1	12	1	0	0	0	0	1	0	0	0	14013	1145	40	1	971	1	SELE	1	169698637	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	116144751	169698637	79551984	2	457											
CACNA1S	779	broad.mit.edu	37	chr1	201047161	201047161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatagacatgaagtactggcGcaggcccagcccgtacatct	11	7	11	12	2	1	2	0	1	1	1	1	3	1	2	2	2	3	3	2	2	4	3	rs9333651		TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr1:201047161G>A	uc001gvv.3	-	10	1692	c.1465C>T	c.(1465-1467)Cgc>Tgc	p.R489C		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	489					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAGTACTGGCGCAGGCCCAGC	0.582													24	37					0	0	1	0	0	A	201047161	G	A	201047161	3	1	12	1	0	0	0	0	1	0	0	0	2547	1087	38	1	4292	1	CACNA1S	1	201047161	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	31348524	201047161	48203460	3	458											
USH2A	7399	broad.mit.edu	37	chr1	216251647	216251647	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagcaatagatccacttGtgtaaaggcaagactggtat	13	9	9	10	0	0	2	0	0	0	2	1	2	1	2	3	2	1	4	3	2	6	4			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr1:216251647G>A	uc001hku.1	-	26	5743	c.5356C>T	c.(5356-5358)Caa>Taa	p.Q1786*		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1786	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.T1785R(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGATCCACTTGTGTAAAGGCA	0.348										HNSCC(13;0.011)			119	169					0	0	1	0	0	A	216251647	G	A	216251647	4	1	12	1	0	0	0	0	0	1	0	0	17033	1386	48	3	10436	3	USH2A	1	216251647	Nonsense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	15204486	216251647	32998974	4	459											
GREB1	9687	broad.mit.edu	37	chr2	11725320	11725320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgggccccccaaaaaacGccacaaagggtggtctccag	11	4	10	16	2	1	0	0	0	1	0	3	0	2	0	6	3	1	0	6	3	4	0			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:11725320G>A	uc002rbk.1	+	7	1235	c.935G>A	c.(934-936)cGc>cAc	p.R312H	GREB1_uc002rbl.3_Missense_Mutation_p.R312H|GREB1_uc002rbn.1_Missense_Mutation_p.R312H	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	312						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CCCAAAAAACGCCACAAAGGG	0.512													14	11					0	0	1	0	0	A	11725320	G	A	11725320	3	1	12	1	0	0	0	0	1	0	0	0	6760	1087	38	1	961	1	GREB1	2	11725320	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08		11725320	231474053	5	460											
KCNS3	3790	broad.mit.edu	37	chr2	18113040	18113040	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaattctggaaaaaccctctGaacatcattgactttgtctc	13	13	5	10	0	4	2	1	2	3	0	5	3	4	3	1	1	2	0	1	1	4	3			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:18113040G>A	uc021veh.1	+	0	765	c.765G>A	c.(763-765)ctG>ctA	p.L255L	KCNS3_uc002rcv.3_Silent_p.L255L|KCNS3_uc002rcw.3_Silent_p.L255L	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA.	255					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AAAACCCTCTGAACATCATTG	0.512													37	51					0	0	1	0	0	A	18113040	G	A	18113040	2	1	12	1	0	0	0	0	0	0	0	1	8090	1277	45	3		3	KCNS3	2	18113040	Silent	SNP	G	TCGA-CS-6186-01A-12D-2024-08	6387720	18113040	225086333	6	461											
CENPA	1058	broad.mit.edu	37	chr2	27016113	27016113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaggatgtgcaactggcccGgaggatccggggccttgagg	9	6	17	9	2	0	1	0	1	0	0	1	4	1	4	3	7	2	1	3	7	2	1			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:27016113G>A	uc002rhr.3	+	3	572	c.389G>A	c.(388-390)cGg>cAg	p.R130Q	CENPA_uc002rhs.3_Missense_Mutation_p.R104Q|CENPA_uc002rht.3_Non-coding_Transcript	NM_001809	NP_001800	P49450	CENPA_HUMAN	Homo sapiens centromere protein A (CENPA), transcript variant 1, mRNA.	130	H3-like.				CenH3-containing nucleosome assembly at centromere|establishment of mitotic spindle orientation|interspecies interaction between organisms|kinetochore assembly|mitotic prometaphase|protein localization to chromosome, centromeric region	condensed nuclear chromosome kinetochore|cytosol|nucleoplasm|nucleosome	DNA binding|chromatin binding|protein binding	p.R130R(1)		endometrium(1)|large_intestine(3)|lung(3)|urinary_tract(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAACTGGCCCGGAGGATCCGG	0.552													60	113					0	0	1	0	0	A	27016113	G	A	27016113	3	1	12	1	0	0	0	0	1	0	0	0	3226	1116	39	2	403	2	CENPA	2	27016113	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	8903073	27016113	216183260	7	462											
G6PC2	57818	broad.mit.edu	37	chr2	169764413	169764413	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttccggttgctctgtgccTtgacctcattgacaatactg	6	14	9	12	1	2	2	1	2	1	0	3	2	3	2	3	1	3	3	3	1	2	5			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:169764413T>G	uc002uem.3	+	4	984	c.892T>G	c.(892-894)Ttg>Gtg	p.L298V	G6PC2_uc002uen.3_3'UTR|G6PC2_uc010fpv.3_Missense_Mutation_p.L182V	NM_021176	NP_066999	Q9NQR9	G6PC2_HUMAN	Homo sapiens glucose-6-phosphatase, catalytic, 2 (G6PC2), transcript variant 1, mRNA.	298					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						GCTCTGTGCCTTGACCTCATT	0.473													37	70					0	0	1	0	0	G	169764413	T	G	169764413	3	3	12	1	0	0	0	0	1	0	0	0	6144	1606	56	5	910	5	G6PC2	2	169764413	Missense_Mutation	SNP	T	TCGA-CS-6186-01A-12D-2024-08	142748300	169764413	73434960	8	463											
GPR55	9290	broad.mit.edu	37	chr2	231774733	231774733	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccgttagccccgggagatCgtggtgtcctgcaggaccag	6	9	14	12	3	0	1	0	0	0	1	3	3	2	2	5	3	2	2	5	3	1	2	rs146835586		TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:231774733C>T	uc021vxz.1	-	0	945	c.945G>A	c.(943-945)acG>acA	p.T315T	GPR55_uc002vrf.3_Non-coding_Transcript|GPR55_uc002vrg.3_Silent_p.T315T|GPR55_uc010fxs.1_Silent_p.T315T	NM_005683	NP_005674	Q9Y2T6	GPR55_HUMAN	Homo sapiens G protein-coupled receptor 55 (GPR55), mRNA.	315					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		CCCGGGAGATCGTGGTGTCCT	0.552													30	36					0	0	1	0	0	T	231774733	C	T	231774733	2	4	12	1	0	0	0	0	0	0	0	1	6699	871	31	2		2	GPR55	2	231774733	Silent	SNP	C	TCGA-CS-6186-01A-12D-2024-08	62010320	231774733	11424640	9	464											
COL6A3	1293	broad.mit.edu	37	chr2	238275437	238275437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctggacgttgcccacgCggaacgctgtggcgctgttg	4	9	15	13	5	0	0	0	0	0	0	1	2	1	2	2	3	2	5	2	3	1	2			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:238275437C>T	uc002vwl.2	-	10	5678	c.5393G>A	c.(5392-5394)cGc>cAc	p.R1798H	COL6A3_uc002vwo.2_Missense_Mutation_p.R1592H|COL6A3_uc010znj.1_Missense_Mutation_p.R1191H	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1798	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.R1798H(2)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTTGCCCACGCGGAACGCTGT	0.547													31	50					0	0	1	0	0	T	238275437	C	T	238275437	3	4	12	1	0	0	0	0	1	0	0	0	3701	768	27	1	4276	1	COL6A3	2	238275437	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08	6500704	238275437	4923936	10	465											
ITPR1	3708	broad.mit.edu	37	chr3	4819013	4819013	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgatcctcaatgatatCaatcctttgggaaagaagag	13	10	9	9	0	2	4	2	2	0	2	4	5	4	5	3	1	0	0	3	1	5	2			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr3:4819013C>A	uc003bqc.3	+	46	6551	c.6201C>A	c.(6199-6201)atC>atA	p.I2067I	ITPR1_uc021wsi.1_Silent_p.I2034I|ITPR1_uc021wsj.1_Silent_p.I2019I|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2082					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TCAATGATATCAATCCTTTGG	0.423													5	7					0.00198382	0.00200958	1	1	0	A	4819013	C	A	4819013	2	1	12	1	0	0	0	0	0	0	0	1	7920	816	29	5		5	ITPR1	3	4819013	Silent	SNP	C	TCGA-CS-6186-01A-12D-2024-08		4819013	193203417	11	466											
TTC21A	199223	broad.mit.edu	37	chr3	39179140	39179140	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctggctgacatttactGccagggcagcaagttcgacc	8	9	11	13	1	0	1	0	1	0	0	1	2	0	1	3	2	4	5	3	2	2	3			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr3:39179140G>C	uc003cjc.2	+	25	3812	c.3635G>C	c.(3634-3636)tGc>tCc	p.C1212S	TTC21A_uc011ayx.1_Missense_Mutation_p.C1164S|TTC21A_uc003cjd.2_Non-coding_Transcript|TTC21A_uc003cjf.2_Missense_Mutation_p.C333S	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	1212							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GACATTTACTGCCAGGGCAGC	0.607													4	13					0	0	1	0	0	C	39179140	G	C	39179140	3	2	12	1	0	0	0	0	1	0	0	0	16684	1319	46	5	3740	5	TTC21A	3	39179140	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	34360127	39179140	158843290	12	467											
GPR98	84059	broad.mit.edu	37	chr5	90136725	90136725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgatattctcaacagagtgCtccataccatcagcatgaaa	15	10	6	10	0	2	3	2	2	1	1	4	3	3	3	2	0	4	2	2	0	4	3			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr5:90136725C>T	uc003kju.3	+	77	17038	c.16942C>T	c.(16942-16944)Ctc>Ttc	p.L5648F	GPR98_uc003kjt.3_Missense_Mutation_p.L3354F|GPR98_uc003kjw.3_Missense_Mutation_p.L1309F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5648					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAACAGAGTGCTCCATACCAT	0.423													16	23					0	0	1	0	0	T	90136725	C	T	90136725	3	4	12	1	0	0	0	0	1	0	0	0	6721	797	28	3	17252	3	GPR98	5	90136725	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08		90136725	90778535	13	468											
FCHSD1	89848	broad.mit.edu	37	chr5	141028985	141028985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaagcacctgctccttggCgctccgccctgtaccccctg	4	9	8	20	2	0	0	0	0	0	0	2	0	2	0	7	1	3	4	7	1	2	3			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr5:141028985C>T	uc003llk.3	-	4	403	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	FCHSD1_uc010jgg.3_5'Flank|FCHSD1_uc003llj.3_Non-coding_Transcript	NM_033449	NP_258260	Q86WN1	FCSD1_HUMAN	Homo sapiens FCH and double SH3 domains 1 (FCHSD1), mRNA.	118									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCCTTGGCGCTCCGCCCT	0.612													68	137					0	0	1	0	0	T	141028985	C	T	141028985	3	4	12	1	0	0	0	0	1	0	0	0	5789	768	27	1	1784	1	FCHSD1	5	141028985	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08	50892260	141028985	39886275	14	469											
PCDH12	51294	broad.mit.edu	37	chr5	141335542	141335542	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatttgcccccgagtctgcAtctcttgccacaatggttgt	6	13	8	14	1	2	0	0	0	2	0	3	1	2	0	4	1	3	2	4	1	1	3			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr5:141335542A>T	uc003llx.3	-	0	3086	c.1875T>A	c.(1873-1875)gaT>gaA	p.D625E		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	625	Cadherin 6.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGAGTCTGCATCTCTTGCCA	0.582													9	15					0	0	1	0	0	T	141335542	A	T	141335542	3	4	12	1	0	0	0	0	1	0	0	0	11510	214	8	5	1695	5	PCDH12	5	141335542	Missense_Mutation	SNP	A	TCGA-CS-6186-01A-12D-2024-08	306557	141335542	39579718	15	470											
SH3TC2	79628	broad.mit.edu	37	chr5	148411245	148411245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgagaaaggcagagttcCtgctcctgcatcggggcaaa	11	7	12	11	1	0	2	0	1	0	2	3	3	2	2	2	3	2	5	2	3	2	1			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr5:148411245C>T	uc003lpu.3	-	8	1159	c.1007G>A	c.(1006-1008)aGg>aAg	p.R336K	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.3_5'UTR|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_5'UTR|SH3TC2_uc010jgx.3_Missense_Mutation_p.R329K|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Missense_Mutation_p.R221K	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	336							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAGAGTTCCTGCTCCTGCA	0.522													17	16					0	0	1	0	0	T	148411245	C	T	148411245	3	4	12	1	0	0	0	0	1	0	0	0	14262	681	24	3	2895	3	SH3TC2	5	148411245	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08	7075703	148411245	32504015	16	471											
GRIA1	2890	broad.mit.edu	37	chr5	153056693	153056693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agctgttccctggggccaagGgatcgacatccagagagctc	9	7	13	12	1	0	1	0	0	0	1	4	4	2	2	3	3	2	3	3	3	1	1			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr5:153056693G>A	uc011dcy.2	+	6	1058	c.1031G>A	c.(1030-1032)gGg>gAg	p.G344E	GRIA1_uc003lva.4_Missense_Mutation_p.G334E|GRIA1_uc003luy.4_Missense_Mutation_p.G334E|GRIA1_uc003luz.4_Missense_Mutation_p.G239E|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.G254E|GRIA1_uc011dcx.2_Missense_Mutation_p.G265E|GRIA1_uc011dcz.2_Missense_Mutation_p.G344E|GRIA1_uc010jia.1_Missense_Mutation_p.G314E	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	334					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGGGGCCAAGGGATCGACATC	0.537													5	15					0	0	1	0	0	A	153056693	G	A	153056693	3	1	12	1	0	0	0	0	1	0	0	0	6767	1232	43	3	1027	3	GRIA1	5	153056693	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	4645448	153056693	27858567	17	472											
ODZ2	57451	broad.mit.edu	37	chr5	167671581	167671581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggctggcagctgtcaacGtgtcatacttcttcaatggg	7	11	13	10	2	4	0	3	0	1	0	4	0	4	0	0	3	3	3	0	3	3	3			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr5:167671581G>A	uc010jjd.3	+	25	5650	c.5650G>A	c.(5650-5652)Gtg>Atg	p.V1884M	ODZ2_uc003lzr.4_Missense_Mutation_p.V1654M|ODZ2_uc003lzt.4_Missense_Mutation_p.V1257M|ODZ2_uc010jje.3_Missense_Mutation_p.V1148M	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.									p.V1893M(1)|p.V1772M(1)|p.V1726M(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		AGCTGTCAACGTGTCATACTT	0.597													26	33					0	0	1	0	0	A	167671581	G	A	167671581	3	1	12	1	0	0	0	0	1	0	0	0	10835	1145	40	1	5752	1	ODZ2	5	167671581	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	14614888	167671581	13243679	18	473											
HLA-DMB	3109	broad.mit.edu	37	chr6	32906668	32906668	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatccttgttgaaggagaTgcagtatgtgaaatcctttg	11	13	11	6	0	0	4	0	2	0	2	2	5	2	4	2	1	1	3	2	1	3	4			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr6:32906668T>G	uc003ocl.2	-	1	393	c.130A>C	c.(130-132)Atc>Ctc	p.I44L	HLA-DMB_uc003ock.2_5'Flank|HLA-DMB_uc010jud.2_5'Flank|HLA-DMB_uc010jue.2_5'Flank|HLA-DMB_uc010juf.2_5'Flank|HLA-DMB_uc003ocj.2_Missense_Mutation_p.I44L|HLA-DMB_uc011dql.2_Missense_Mutation_p.I44L	NM_002118	NP_002109	P28068	DMB_HUMAN	Homo sapiens major histocompatibility complex, class II, DM beta (HLA-DMB), mRNA.	44	Beta-1.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	MHC class II protein complex|integral to membrane|late endosome membrane|lysosomal membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TTGAAGGAGATGCAGTATGTG	0.527													21	50					0	0	1	0	0	G	32906668	T	G	32906668	3	3	12	1	0	0	0	0	1	0	0	0	7199	1464	51	5	681	5	HLA-DMB	6	32906668	Missense_Mutation	SNP	T	TCGA-CS-6186-01A-12D-2024-08		32906668	138208399	19	474											
LAMA4	3910	broad.mit.edu	37	chr6	112469437	112469437	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attctgtgaccagttggttaGattgttggccatgggggcag	7	13	15	6	0	1	2	0	1	1	1	1	2	1	2	2	4	0	4	2	4	1	5			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr6:112469437G>C	uc003pvu.2	-	17	2584	c.2275C>G	c.(2275-2277)Cta>Gta	p.L759V	LAMA4_uc003pvv.2_Missense_Mutation_p.L752V|LAMA4_uc003pvt.2_Missense_Mutation_p.L752V	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	759	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CAGTTGGTTAGATTGTTGGCC	0.517													26	7					0	0	1	0	0	C	112469437	G	C	112469437	3	2	12	1	0	0	0	0	1	0	0	0	8608	933	33	5	3284	5	LAMA4	6	112469437	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	79562769	112469437	58645630	20	475											
TCTE3	6991	broad.mit.edu	37	chr6	170144257	170144257	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagcaaactttaattttgcCagggcactcttccattcttt	9	17	5	10	0	2	0	0	0	2	0	3	0	3	0	2	1	3	2	2	1	3	8			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr6:170144257C>T	uc003qxe.1	-	1	318	c.234G>A	c.(232-234)ctG>ctA	p.L78L		NM_174910	NP_777570	Q8IZS6	TC1D3_HUMAN	Homo sapiens t-complex-associated-testis-expressed 3 (TCTE3), mRNA.	78					transport	cytoplasm|dynein complex|membrane|microtubule	motor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|prostate(1)	4		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;1.08e-21)|BRCA - Breast invasive adenocarcinoma(81;1.32e-07)|GBM - Glioblastoma multiforme(31;0.00157)		TTAATTTTGCCAGGGCACTCT	0.373													17	25					0	0	1	0	0	T	170144257	C	T	170144257	2	4	12	1	0	0	0	0	0	0	0	1	15715	581	21	3		3	TCTE3	6	170144257	Silent	SNP	C	TCGA-CS-6186-01A-12D-2024-08	57674820	170144257	970810	21	476											
DYNC1I1	1780	broad.mit.edu	37	chr7	95657632	95657632	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatcagctgctgcacacaCggtaatgcaaacttttgcca	11	11	7	12	1	1	0	1	0	0	0	1	0	1	0	1	1	6	5	1	1	3	4			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr7:95657632C>T	uc003uoc.4	+	11	1444	c.1167_splice	c.e11+1	p.T389_splice	DYNC1I1_uc003uod.4_Splice_Site_p.T372_splice|DYNC1I1_uc003uob.3_Splice_Site_p.T352_splice|DYNC1I1_uc003uoe.4_Splice_Site_p.T369_splice|DYNC1I1_uc010lfl.3_Splice_Site_p.T378_splice	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	389					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	p.T389M(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GCTGCACACACGGTAATGCAA	0.493													24	55					0	0	1	0	0	T	95657632	C	T	95657632	5	4	12	1	0	0	0	0	0	0	1	0	4842	550	19	1	1204	1	DYNC1I1	7	95657632	Splice_Site	SNP	C	TCGA-CS-6186-01A-12D-2024-08		95657632	63481031	22	477											
LAMB1	3912	broad.mit.edu	37	chr7	107616242	107616242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgacagtcatcacacaCgcctccgctgacgttccccg	7	8	9	17	4	2	2	2	2	0	0	4	2	4	2	4	0	1	3	4	0	0	1			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr7:107616242C>T	uc003vev.2	-	7	1314	c.1153G>A	c.(1153-1155)Gtg>Atg	p.V385M	LAMB1_uc003vew.2_Missense_Mutation_p.V361M|LAMB1_uc003vex.3_Missense_Mutation_p.V361M|LAMB1_uc010ljn.1_Missense_Mutation_p.V447M	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	361	Laminin EGF-like 2.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCATCACACACGCCTCCGCTG	0.517													25	57					0	0	1	0	0	T	107616242	C	T	107616242	3	4	12	1	0	0	0	0	1	0	0	0	8610	536	19	1	4379	1	LAMB1	7	107616242	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08	11958610	107616242	51522421	23	478											
DOCK5	80005	broad.mit.edu	37	chr8	25198440	25198440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtttaataattcaattcGccagttatttcttgctttca	10	19	5	7	1	3	1	2	1	1	0	4	1	3	1	1	0	1	3	1	0	4	9			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr8:25198440G>A	uc003xeg.3	+	22	2512	c.2375G>A	c.(2374-2376)cGc>cAc	p.R792H	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.R506H|DOCK5_uc003xei.3_Missense_Mutation_p.R362H|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	792						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.R792H(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AATTCAATTCGCCAGTTATTT	0.398													8	6					0	0	1	0	0	A	25198440	G	A	25198440	3	1	12	1	0	0	0	0	1	0	0	0	4690	1087	38	1	2465	1	DOCK5	8	25198440	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08		25198440	121165582	24	479											
ASAP1	50807	broad.mit.edu	37	chr8	131149272	131149272	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagaaggttcaacttggctgGttgcctgttagactggaaaa	11	11	13	6	0	1	2	1	0	0	2	1	4	1	3	1	4	2	4	1	4	5	4			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr8:131149272G>T	uc003yta.2	-	13	1321	c.1093C>A	c.(1093-1095)Cca>Aca	p.P365T	ASAP1_uc003ysz.2_Missense_Mutation_p.P176T|ASAP1_uc011liw.2_Missense_Mutation_p.P358T	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	365	PH.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AACTTGGCTGGTTGCCTGTTA	0.448													29	38					1.13719e-10	1.16712e-10	1	1	0	T	131149272	G	T	131149272	3	4	12	1	0	0	0	0	1	0	0	0	1010	1261	44	5	2364	5	ASAP1	8	131149272	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	105950832	131149272	15214750	25	480											
MAMDC2	256691	broad.mit.edu	37	chr9	72724721	72724721	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacaaccggctactgtattgGtaagtgggcttcattttcat	9	14	10	8	1	2	0	2	0	0	0	2	1	2	0	1	3	2	4	1	3	4	7			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr9:72724721G>A	uc004ahm.2	+	4	1122	c.505_splice	c.e4+1	p.E169_splice	MAMDC2_uc004ahn.2_Splice_Site	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	Homo sapiens MAM domain containing 2 (MAMDC2), mRNA.	169	MAM 1.|MAM 2.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TACTGTATTGGTAAGTGGGCT	0.368													46	49					0	0	1	0	0	A	72724721	G	A	72724721	5	1	12	1	0	0	0	0	0	0	1	0	9203	1275	44	3	520	3	MAMDC2	9	72724721	Splice_Site	SNP	G	TCGA-CS-6186-01A-12D-2024-08		72724721	68488710	26	481											
OR1N1	138883	broad.mit.edu	37	chr9	125289214	125289214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtggcaaatggccacatagCggtcatacgccatggcagcc	10	6	13	12	2	1	0	1	0	0	0	1	0	1	0	3	5	3	2	3	5	3	2			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr9:125289214C>T	uc004bmn.1	-	0	359	c.359G>A	c.(358-360)cGc>cAc	p.R120H		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 1 (OR1N1), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GGCCACATAGCGGTCATACGC	0.512													4	30					0	0	1	0	0	T	125289214	C	T	125289214	3	4	12	1	0	0	0	0	1	0	0	0	10969	768	27	1	580	1	OR1N1	9	125289214	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08	52564493	125289214	15924217	27	482											
GOLGA2	2801	broad.mit.edu	37	chr9	131022430	131022430	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctcttgacgtgctgctcCgactgcagtgcgctggtgat	4	12	12	13	3	1	2	0	2	1	0	3	3	3	2	2	1	4	4	2	1	0	1			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr9:131022430C>T	uc011maw.2	-	17	1729	c.1716G>A	c.(1714-1716)tcG>tcA	p.S572S	GOLGA2_uc010mxw.3_Intron|GOLGA2_uc004buh.3_Silent_p.S45S|JA429730_uc022bod.1_5'Flank|Metazoa_SRP_uc022bof.1_5'Flank|DQ583692_uc022bog.1_5'Flank	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Homo sapiens golgin A2 (GOLGA2), mRNA.	572						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CGTGCTGCTCCGACTGCAGTG	0.592													28	46					0	0	1	0	0	T	131022430	C	T	131022430	2	4	12	1	0	0	0	0	0	0	0	1	6552	639	23	2		2	GOLGA2	9	131022430	Silent	SNP	C	TCGA-CS-6186-01A-12D-2024-08	5733216	131022430	10191001	28	483											
ANKRD1	27063	broad.mit.edu	37	chr10	92678671	92678671	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgacaagaatttttctactActggcagtttattctccaga	11	15	6	9	0	2	3	0	1	2	2	3	3	2	3	1	1	2	2	1	1	5	7			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr10:92678671A>G	uc001khe.1	-	3	652	c.404T>C	c.(403-405)gTa>gCa	p.V135A		NM_014391	NP_055206	Q15327	ANKR1_HUMAN	Homo sapiens ankyrin repeat domain 1 (cardiac muscle) (ANKRD1), mRNA.	135					cellular lipid metabolic process|defense response|signal transduction		DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				TTTTTCTACTACTGGCAGTTT	0.343													18	18					0	0	1	0	0	G	92678671	A	G	92678671	3	3	12	1	0	0	0	0	1	0	0	0	637	391	14	3	579	3	ANKRD1	10	92678671	Missense_Mutation	SNP	A	TCGA-CS-6186-01A-12D-2024-08		92678671	42856076	29	484											
TMEM180	79847	broad.mit.edu	37	chr10	104233397	104233397	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccggcgctggggcgtctaCgcggtggtgcgggggctctt	1	9	20	11	6	2	0	0	0	2	0	2	0	2	0	1	7	3	2	1	7	1	2			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr10:104233397C>T	uc001kvt.3	+	7	1215	c.996C>T	c.(994-996)taC>taT	p.Y332Y	TMEM180_uc010qql.2_Silent_p.Y61Y|TMEM180_uc010qqm.1_Silent_p.Y181Y	NM_024789	NP_079065	Q14CX5	TM180_HUMAN	Homo sapiens transmembrane protein 180 (TMEM180), mRNA.	332						integral to membrane		p.V331I(2)		breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGGGCGTCTACGCGGTGGTGC	0.637													31	17					0	0	1	0	0	T	104233397	C	T	104233397	2	4	12	1	0	0	0	0	0	0	0	1	16096	547	19	1		1	TMEM180	10	104233397	Silent	SNP	C	TCGA-CS-6186-01A-12D-2024-08	11554726	104233397	31301350	30	485											
TACC2	10579	broad.mit.edu	37	chr10	123844064	123844064	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgagcccactgttccCgaaggagccatctgggaggg	7	7	16	11	1	1	1	0	1	1	0	2	4	2	3	3	4	2	2	3	4	1	1			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr10:123844064C>T	uc001lfv.3	+	3	2409	c.2049C>T	c.(2047-2049)ccC>ccT	p.P683P	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Silent_p.P683P|TACC2_uc010qtv.2_Silent_p.P683P	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	683						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCACTGTTCCCGAAGGAGCCA	0.582													4	2					0	0	1	0	0	T	123844064	C	T	123844064	2	4	12	1	0	0	0	0	0	0	0	1	15499	639	23	2		2	TACC2	10	123844064	Silent	SNP	C	TCGA-CS-6186-01A-12D-2024-08	19610667	123844064	11690683	31	486											
MUC5B	727897	broad.mit.edu	37	chr11	1271606	1271606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctccaaagccactccctcctCcagtccagggactgcaactg	9	7	7	18	0	0	0	0	0	0	0	5	1	5	1	6	1	3	1	6	1	2	0			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr11:1271606C>T	uc001lta.3	+	30	13555	c.13496C>T	c.(13495-13497)tCc>tTc	p.S4499F		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4499	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTCCCTCCTCCAGTCCAGGG	0.642													58	86					0	0	1	0	0	T	1271606	C	T	1271606	3	4	12	1	0	0	0	0	1	0	0	0	9979	855	30	3	13627	3	MUC5B	11	1271606	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08		1271606	133734910	32	487											
OR5F1	338674	broad.mit.edu	37	chr11	55761801	55761801	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggagataaagaagtacaTctgtaggaagcagccagcaa	17	5	12	7	0	1	2	0	0	1	2	1	4	1	3	1	2	4	4	1	2	7	3			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr11:55761801T>A	uc010riv.2	-	0	301	c.301A>T	c.(301-303)Atg>Ttg	p.M101L		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q100H(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AAGAAGTACATCTGTAGGAAG	0.463													29	53					0	0	1	0	0	A	55761801	T	A	55761801	3	1	12	1	0	0	0	0	1	0	0	0	11158	1435	50	5	646	5	OR5F1	11	55761801	Missense_Mutation	SNP	T	TCGA-CS-6186-01A-12D-2024-08	54490195	55761801	79244715	33	488											
PDE2A	5138	broad.mit.edu	37	chr11	72289381	72289381	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcctgttgcccatggccttCtcctgcaggcatcgagtcgt	4	11	12	14	2	1	0	0	0	1	0	4	1	1	0	4	3	2	3	4	3	0	2			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr11:72289381C>T	uc010rrc.2	-	29	2757	c.2511G>A	c.(2509-2511)gaG>gaA	p.E837E	PDE2A_uc001oso.3_Silent_p.E816E|PDE2A_uc010rra.2_Silent_p.E830E|PDE2A_uc001osn.3_Silent_p.E581E|PDE2A_uc010rrb.2_Silent_p.E828E|PDE2A_uc010rrd.2_Silent_p.E722E	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	837	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CCATGGCCTTCTCCTGCAGGC	0.582													26	37					0	0	1	0	0	T	72289381	C	T	72289381	2	4	12	1	0	0	0	0	0	0	0	1	11636	912	32	3		3	PDE2A	11	72289381	Silent	SNP	C	TCGA-CS-6186-01A-12D-2024-08	16527580	72289381	62717135	34	489											
OR2AT4	341152	broad.mit.edu	37	chr11	74800020	74800020	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgaccagaaggtgggagcTgcaggtggagaaggcttttg	10	7	17	7	1	0	2	0	0	0	2	0	5	0	3	1	5	2	3	1	5	2	2			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr11:74800020T>A	uc010rro.2	-	0	739	c.739A>T	c.(739-741)Agc>Tgc	p.S247C		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA.	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						AGGTGGGAGCTGCAGGTGGAG	0.567													11	15					0	0	1	0	0	A	74800020	T	A	74800020	3	1	12	1	0	0	0	0	1	0	0	0	10987	1580	55	5	226	5	OR2AT4	11	74800020	Missense_Mutation	SNP	T	TCGA-CS-6186-01A-12D-2024-08	2510639	74800020	60206496	35	490											
ACSM4	341392	broad.mit.edu	37	chr12	7477158	7477158	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catccagcagttgttgaatcGgctgttgtcagtagtccaga	9	12	11	9	1	1	2	1	1	0	1	4	2	3	2	2	1	1	6	2	1	2	4			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr12:7477158G>A	uc001qsx.1	+	10	1500	c.1500G>A	c.(1498-1500)tcG>tcA	p.S500S		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	500					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						TTGTTGAATCGGCTGTTGTCA	0.428													15	29					0	0	1	0	0	A	7477158	G	A	7477158	2	1	12	1	0	0	0	0	0	0	0	1	186	1103	39	2		2	ACSM4	12	7477158	Silent	SNP	G	TCGA-CS-6186-01A-12D-2024-08		7477158	126374737	36	491											
GUCY2C	2984	broad.mit.edu	37	chr12	14809526	14809526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgggaccattttttctgacGaagttcataatcttttctat	9	18	7	7	1	4	1	1	1	3	0	4	3	4	2	1	1	0	1	1	1	3	8			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr12:14809526G>A	uc001rcd.3	-	11	1527	c.1390C>T	c.(1390-1392)Cgt>Tgt	p.R464C		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	464			R -> L (in dbSNP:rs55684775).		intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TTTTTCTGACGAAGTTCATAA	0.373													25	38					0	0	1	0	0	A	14809526	G	A	14809526	3	1	12	1	0	0	0	0	1	0	0	0	6896	1058	37	2	1895	2	GUCY2C	12	14809526	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	7332368	14809526	119042369	37	492											
ALG5	29880	broad.mit.edu	37	chr13	37569684	37569684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaatttctcttcttcatgtCgatggagtgctggcattttt	7	18	9	7	1	3	1	1	0	2	1	5	3	3	2	0	2	1	2	0	2	1	5			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr13:37569684C>T	uc001uvy.3	-	1	183	c.116G>A	c.(115-117)cGa>cAa	p.R39Q	ALG5_uc010teq.2_Missense_Mutation_p.R39Q|ALG5_uc010ter.2_Non-coding_Transcript	NM_013338	NP_037470	Q9Y673	ALG5_HUMAN	Homo sapiens asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae) (ALG5), transcript variant 1, mRNA.	39					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		TTCTTCATGTCGATGGAGTGC	0.383													15	38					0	0	1	0	0	T	37569684	C	T	37569684	3	4	12	1	0	0	0	0	1	0	0	0	521	884	31	2	894	2	ALG5	13	37569684	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08		37569684	77600194	38	493											
C14orf49	161176	broad.mit.edu	37	chr14	95932397	95932397	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccggtccaggagcaccgcCtggttgtccacgttgtgcag	6	8	14	13	3	0	0	0	0	0	0	2	1	2	1	5	3	3	4	5	3	0	2			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr14:95932397C>T	uc001yei.4	-	2	513	c.498G>A	c.(496-498)caG>caA	p.Q166Q	C14orf49_uc010avi.3_Silent_p.Q166Q|C14orf49_uc001yej.1_Silent_p.Q166Q	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	166					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		GGAGCACCGCCTGGTTGTCCA	0.637													20	31					0	0	1	0	0	T	95932397	C	T	95932397	2	4	12	1	0	0	0	0	0	0	0	1	1776	680	24	3		3	C14orf49	14	95932397	Silent	SNP	C	TCGA-CS-6186-01A-12D-2024-08		95932397	11417143	39	494											
PAK6	56924	broad.mit.edu	37	chr15	40558146	40558146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccaacaccctgcgtggccGcagccccaccagccggcggc	6	3	11	21	4	0	0	0	0	0	0	1	0	1	0	7	3	4	1	7	3	1	0			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr15:40558146G>A	uc010bbl.3	+	4	748	c.308G>A	c.(307-309)cGc>cAc	p.R103H	PAK6_uc010bbm.3_Missense_Mutation_p.R103H|PAK6_uc001zky.4_Missense_Mutation_p.R103H|PAK6_uc010bbn.3_Missense_Mutation_p.R103H|PAK6_uc001zlb.3_Missense_Mutation_p.R103H	NM_001128628	NP_064553	Q9NQU5	PAK6_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 6 (PAK6), transcript variant 2, mRNA.	103	Linker.		R -> C (in dbSNP:rs36081263).				ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CTGCGTGGCCGCAGCCCCACC	0.667													3	10					0	0	1	0	0	A	40558146	G	A	40558146	3	1	12	1	0	0	0	0	1	0	0	0	11404	1087	38	1	314	1	PAK6	15	40558146	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08		40558146	61973246	40	495											
ATP8B4	79895	broad.mit.edu	37	chr15	50223421	50223421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttatggtctctggggtccGggatttaaaaatgaacccaa	11	12	11	7	1	1	1	0	1	1	0	3	2	2	2	2	4	1	1	2	4	6	3			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr15:50223421G>A	uc001zxu.3	-	15	1679	c.1537C>T	c.(1537-1539)Cgg>Tgg	p.R513W	ATP8B4_uc010ber.3_Missense_Mutation_p.R386W|ATP8B4_uc010ufd.2_Intron|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	513					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.S512S(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TCTGGGGTCCGGGATTTAAAA	0.398													17	25					0	0	1	0	0	A	50223421	G	A	50223421	3	1	12	1	0	0	0	0	1	0	0	0	1197	1115	39	2	2093	2	ATP8B4	15	50223421	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	9665275	50223421	52307971	41	496											
MYO5A	4644	broad.mit.edu	37	chr15	52622646	52622646	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgggaatgttgactggtcGgatgggttcatcaatgatct	8	13	13	7	1	3	2	2	2	1	0	4	4	3	4	1	4	0	2	1	4	2	2			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr15:52622646G>A	uc002aby.2	-	33	4628	c.4384C>T	c.(4384-4386)Cga>Tga	p.R1462*	MYO5A_uc002abx.3_Nonsense_Mutation_p.R1435*|MYO5A_uc010ugd.1_Nonsense_Mutation_p.R184*|MYO5A_uc002abz.1_Non-coding_Transcript	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.	1462					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.R1462R(2)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TTGACTGGTCGGATGGGTTCA	0.413													56	71					0	0	1	0	0	A	52622646	G	A	52622646	4	1	12	1	0	0	0	0	0	1	0	0	10078	1124	39	2	1215	2	MYO5A	15	52622646	Nonsense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	2399225	52622646	49908746	42	497											
OR4F6	390648	broad.mit.edu	37	chr15	102346763	102346763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgatgcagttatcactcccGttttgaatccagtcatctat	9	16	6	10	1	3	2	2	2	1	0	5	2	5	2	2	0	1	3	2	0	3	5			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr15:102346763G>A	uc010utr.2	+	0	841	c.841G>A	c.(841-843)Gtt>Att	p.V281I		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA.	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TATCACTCCCGTTTTGAATCC	0.343													23	28					0	0	1	0	0	A	102346763	G	A	102346763	3	1	12	1	0	0	0	0	1	0	0	0	11066	1145	40	1	843	1	OR4F6	15	102346763	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	49724117	102346763	184629	43	498											
SPNS1	83985	broad.mit.edu	37	chr16	28995597	28995597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggggccgctccacccgcgtgCccgtggccagtgtgctcatc	3	7	14	17	4	1	0	1	0	0	0	3	0	2	0	5	3	2	2	5	3	0	0			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr16:28995597C>T	uc010vdi.1	+	12	1704	c.1564C>T	c.(1564-1566)Ccc>Tcc	p.P522S	NPIPL1_uc010vct.2_Intron|SPNS1_uc002drx.2_Missense_Mutation_p.P449S|SPNS1_uc002dsa.2_Missense_Mutation_p.P522S|SPNS1_uc002drz.2_Missense_Mutation_p.P470S|SPNS1_uc010byp.2_Missense_Mutation_p.P448S|LAT_uc002dsb.3_5'UTR|LAT_uc002dsd.3_5'UTR|LAT_uc002dsc.3_5'UTR|LAT_uc010vdj.2_5'Flank|LAT_uc010vdk.1_5'Flank|LAT_uc010vdl.1_5'Flank	NM_001142448	NP_001135922	Q9H2V7	SPNS1_HUMAN	Homo sapiens spinster homolog 1 (Drosophila) (SPNS1), transcript variant 2, mRNA.	522					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						CACCCGCGTGCCCGTGGCCAG	0.697													9	18					0	0	1	0	0	T	28995597	C	T	28995597	3	4	12	1	0	0	0	0	1	0	0	0	15073	739	26	3	1610	3	SPNS1	16	28995597	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08		28995597	61359156	44	499											
CHST4	10164	broad.mit.edu	37	chr16	71570880	71570880	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgggatctgatacgggcCgtcttcttgtgcgacatgag	6	11	15	9	4	3	2	0	2	3	0	3	4	3	3	1	2	3	0	1	2	1	3	rs139260372		TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr16:71570880C>T	uc021tkt.1	+	0	300	c.300C>T	c.(298-300)gcC>gcT	p.A100A	CHST4_uc002fan.3_Silent_p.A100A|CHST4_uc002fao.3_Silent_p.A100A	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.	100					N-acetylglucosamine metabolic process|cell-cell signaling|immune response|inflammatory response|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	p.R99R(1)		cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						TGATACGGGCCGTCTTCTTGT	0.582													22	35					0	0	1	0	0	T	71570880	C	T	71570880	2	4	12	1	0	0	0	0	0	0	0	1	3406	639	23	2		2	CHST4	16	71570880	Silent	SNP	C	TCGA-CS-6186-01A-12D-2024-08	42575283	71570880	18783873	45	500											
ACLY	47	broad.mit.edu	37	chr17	40040509	40040509	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagcgtaacacatgatccatGaatgtggagcccgggtacct	11	9	11	10	2	0	2	0	2	0	0	1	3	1	3	3	2	4	2	3	2	4	3			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr17:40040509G>C	uc002hyg.3	-	18	2254	c.2091C>G	c.(2089-2091)ttC>ttG	p.F697L	ACLY_uc002hyh.3_Missense_Mutation_p.F687L|ACLY_uc002hyi.3_Missense_Mutation_p.F751L|ACLY_uc010wfx.2_Missense_Mutation_p.F741L|ACLY_uc010wfy.2_Missense_Mutation_p.F426L	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	697					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CATGATCCATGAATGTGGAGC	0.438													20	27					0	0	1	0	0	C	40040509	G	C	40040509	3	2	12	1	0	0	0	0	1	0	0	0	143	1281	45	5	1258	5	ACLY	17	40040509	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08		40040509	41154701	46	501											
HOXB5	3215	broad.mit.edu	37	chr17	46670842	46670842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcgagctctcgcccaccGccccaaagtggctggaggag	7	4	14	16	5	1	0	0	0	1	0	2	3	1	2	4	3	1	2	4	3	1	0			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr17:46670842G>A	uc002inr.3	-	0	262	c.203C>T	c.(202-204)gCg>gTg	p.A68V	HOXB-AS3_uc021tzg.1_Intron|HOXB-AS3_uc021tzh.1_Intron|HOXB-AS3_uc021tzi.1_Intron|HOXB-AS3_uc021tzj.1_Intron|HOXB-AS3_uc021tzk.1_5'Flank	NM_002147	NP_002138	P09067	HXB5_HUMAN	Homo sapiens homeobox B5 (HOXB5), mRNA.	68						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						CTCGCCCACCGCCCCAAAGTG	0.687													4	14					0	0	1	0	0	A	46670842	G	A	46670842	3	1	12	1	0	0	0	0	1	0	0	0	7304	1087	38	1	614	1	HOXB5	17	46670842	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	6630333	46670842	34524368	47	502											
COL1A1	1277	broad.mit.edu	37	chr17	48270361	48270361	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagatacttacgacagcGccagggggtccgggaacacc	12	4	14	11	3	0	1	0	0	0	1	1	4	1	2	3	4	4	0	3	4	4	2	rs72651616		TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr17:48270361G>A	uc002iqm.3	-	25	1941	c.1815C>T	c.(1813-1815)ggC>ggT	p.G605G		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	605	Triple-helical region.		G -> D (in OI2A).		axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	p.G605G(2)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TTACGACAGCGCCAGGGGGTC	0.627			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						5	15					0	0	1	0	0	A	48270361	G	A	48270361	2	1	12	1	0	0	0	0	0	0	0	1	3677	1074	38	1		1	COL1A1	17	48270361	Silent	SNP	G	TCGA-CS-6186-01A-12D-2024-08	1599519	48270361	32924849	48	503											
EPN3	55040	broad.mit.edu	37	chr17	48616618	48616618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtggtccaccatcagcGggacagagagcctgagagag	10	4	16	11	2	1	3	1	1	0	2	2	6	2	4	4	3	2	0	4	3	0	0			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr17:48616618G>A	uc010wms.2	+	4	1105	c.917G>A	c.(916-918)cGg>cAg	p.R306Q	EPN3_uc002ira.4_Missense_Mutation_p.R278Q|EPN3_uc010wmt.2_Non-coding_Transcript|EPN3_uc010wmu.2_Missense_Mutation_p.R251Q			Q9H201	EPN3_HUMAN	Homo sapiens epsin 3 (EPN3), mRNA.	278						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CACCATCAGCGGGACAGAGAG	0.597													18	30					0	0	1	0	0	A	48616618	G	A	48616618	3	1	12	1	0	0	0	0	1	0	0	0	5187	1116	39	2	847	2	EPN3	17	48616618	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	346257	48616618	32578592	49	504											
MYH14	79784	broad.mit.edu	37	chr19	50750373	50750373	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagaaagcccagactaaGgaacaggtaggcggggctgg	12	4	17	8	1	0	2	0	0	0	2	0	3	0	3	1	6	3	3	1	6	4	2			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr19:50750373G>A	uc010enu.1	+	11	1370	c.1323G>A	c.(1321-1323)aaG>aaA	p.K441K	MYH14_uc002prq.1_Silent_p.K441K|MYH14_uc002prr.1_Silent_p.K433K	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	433	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CCCAGACTAAGGAACAGGTAG	0.597													8	19					0	0	1	0	0	A	50750373	G	A	50750373	2	1	12	1	0	0	0	0	0	0	0	1	10033	991	35	3		3	MYH14	19	50750373	Silent	SNP	G	TCGA-CS-6186-01A-12D-2024-08		50750373	8378610	50	505											
NLRP9	338321	broad.mit.edu	37	chr19	56244617	56244617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccagtaagctggtctctgCgataccgttcatttcacaga	9	12	8	12	2	3	1	2	0	1	1	5	2	4	1	2	1	3	3	2	1	2	4			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr19:56244617C>T	uc002qly.3	-	1	608	c.580G>A	c.(580-582)Gca>Aca	p.A194T		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	194	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTGGTCTCTGCGATACCGTTC	0.453													4	30					0	0	1	0	0	T	56244617	C	T	56244617	3	4	12	1	0	0	0	0	1	0	0	0	10484	768	27	1	2427	1	NLRP9	19	56244617	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08	5494244	56244617	2884366	51	506											
SLC23A2	9962	broad.mit.edu	37	chr20	4850643	4850643	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgatgatgctggcgaccaCggcactgagcatgccgatga	9	7	13	12	4	0	3	0	3	0	0	1	6	0	3	2	2	3	3	2	2	0	0			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr20:4850643C>T	uc002wlg.1	-	11	1534	c.1159G>A	c.(1159-1161)Gtg>Atg	p.V387M	SLC23A2_uc010zqr.1_Missense_Mutation_p.V272M|SLC23A2_uc002wlh.1_Missense_Mutation_p.V387M|SLC23A2_uc002wli.3_Missense_Mutation_p.V386M	NM_005116	NP_976072	Q9UGH3	S23A2_HUMAN	Homo sapiens solute carrier family 23 (nucleobase transporters), member 2 (SLC23A2), transcript variant 1, mRNA.	387					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTGGCGACCACGGCACTGAGC	0.602													27	46					0	0	1	0	0	T	4850643	C	T	4850643	3	4	12	1	0	0	0	0	1	0	0	0	14463	536	19	1	817	1	SLC23A2	20	4850643	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08		4850643	58174877	52	507											
SEC23B	10483	broad.mit.edu	37	chr20	18516372	18516372	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacacttggcatctattttGaagttgtcaatcaggtgagt	10	15	9	7	0	3	2	2	2	1	0	3	2	3	2	0	2	1	2	0	2	4	6			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr20:18516372G>T	uc002wra.2	+	11	1851	c.1390G>T	c.(1390-1392)Gaa>Taa	p.E464*	SEC23B_uc010zsb.2_Nonsense_Mutation_p.E446*|SEC23B_uc002wrb.2_Nonsense_Mutation_p.E464*|SEC23B_uc002wqz.2_Nonsense_Mutation_p.E464*|SEC23B_uc002wrc.2_Nonsense_Mutation_p.E464*	NM_032985	NP_116781	Q15437	SC23B_HUMAN	Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA.	464					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						CATCTATTTTGAAGTTGTCAA	0.433													3	26					1	1	1	1	0	T	18516372	G	T	18516372	4	4	12	1	0	0	0	0	0	1	0	0	13992	1291	45	5	1432	5	SEC23B	20	18516372	Nonsense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	13665729	18516372	44509148	53	508											
VSX1	30813	broad.mit.edu	37	chr20	25057044	25057044	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcttccaagccattctcAgggctcactttatctgagcc	9	12	6	14	0	4	1	2	1	3	0	6	1	5	1	3	1	2	1	3	1	2	4			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr20:25057044A>C	uc002wuf.3	-	4	986	c.951T>G	c.(949-951)ccT>ccG	p.P317P	VSX1_uc002wue.3_Intron|VSX1_uc010gdd.2_Intron|VSX1_uc010gde.2_Intron|VSX1_uc010gdf.2_Intron	NM_014588	NP_055403	Q9NZR4	VSX1_HUMAN	Homo sapiens visual system homeobox 1 (VSX1), transcript variant 1, mRNA.	317					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)	6						AGCCATTCTCAGGGCTCACTT	0.542													31	58					0	0	1	0	0	C	25057044	A	C	25057044	2	2	12	1	0	0	0	0	0	0	0	1	17228	175	7	5		5	VSX1	20	25057044	Silent	SNP	A	TCGA-CS-6186-01A-12D-2024-08	6540672	25057044	37968476	54	509											
FAM47B	170062	broad.mit.edu	37	chrX	34961315	34961315	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttcgtagaggaagtggaaGcccagctgatgaccaagcat	12	7	13	9	2	0	3	0	2	0	1	1	5	0	5	2	2	3	4	2	2	4	2			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chrX:34961315G>T	uc004ddi.2	+	0	403	c.367G>T	c.(367-369)Gcc>Tcc	p.A123S		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	123										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						GGAAGTGGAAGCCCAGCTGAT	0.537													28	18					6.04164e-23	6.36822e-23	1	1	0	T	34961315	G	T	34961315	3	4	12	1	0	0	0	0	1	0	0	0	5570	971	34	5	369	5	FAM47B	23	34961315	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08		34961315	120309245	55	510											
MAGEB16	139604	broad.mit.edu	37	chrX	35820491	35820491	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgctgctaaggcagagAgtcctcttgaggttcctcag	7	11	11	12	0	2	2	1	1	1	1	5	3	5	2	3	2	2	4	3	2	1	3			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chrX:35820491A>T	uc010ngt.1	+	1	457	c.178A>T	c.(178-180)Agt>Tgt	p.S60C	MAGEB16_uc022bus.1_Missense_Mutation_p.S60C	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	60										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TAAGGCAGAGAGTCCTCTTGA	0.532													9	1					0	0	1	0	0	T	35820491	A	T	35820491	3	4	12	1	0	0	0	0	1	0	0	0	9174	304	11	5	180	5	MAGEB16	23	35820491	Missense_Mutation	SNP	A	TCGA-CS-6186-01A-12D-2024-08	859176	35820491	119450069	56	511											
DDX26B	203522	broad.mit.edu	37	chrX	134706886	134706886	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctattgaaagaaatcacaggGgaaactgcacttagactgac	16	8	9	8	0	1	4	1	2	0	2	1	5	1	5	0	2	2	1	0	2	5	3			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chrX:134706886G>T	uc004eyw.4	+	10	1797	c.1434G>T	c.(1432-1434)ggG>ggT	p.G478G	DDX26B_uc004eyx.4_Silent_p.G79G	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.	478										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AAATCACAGGGGAAACTGCAC	0.353													28	7					3.73148e-12	3.88074e-12	1	1	0	T	134706886	G	T	134706886	2	4	12	1	0	0	0	0	0	0	0	1	4353	1219	43	5		5	DDX26B	23	134706886	Silent	SNP	G	TCGA-CS-6186-01A-12D-2024-08	98886395	134706886	20563674	57	512											
SPANXN2	494119	broad.mit.edu	37	chrX	142795437	142795437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtcctcctcctcttggaCgggattgatggagttctctc	4	15	10	12	2	2	1	0	1	2	0	8	4	5	4	3	3	0	1	3	3	0	4			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chrX:142795437C>T	uc004fbz.3	-	1	995	c.241G>A	c.(241-243)Gtc>Atc	p.V81I		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	81								p.V81F(2)|p.R90R(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTTGGACGGGATTGATG	0.453													132	16					0	0	1	0	0	T	142795437	C	T	142795437	3	4	12	1	0	0	0	0	1	0	0	0	14991	536	19	1	305	1	SPANXN2	23	142795437	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08	8088551	142795437	12475123	58	513											
CDK11B	984	broad.mit.edu	37	chr1	1588852	1588852	+	RNA	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagcgttttatctctgctttCtcctcttgttccttccttcg	3	20	5	13	2	3	0	0	0	3	0	8	0	5	0	3	0	2	3	3	0	2	7			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr1:1588852C>G	uc001ahc.1	-	1		c.192G>C			CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron			P21127	CD11B_HUMAN	Homo sapiens cell division cycle 2-like 1 (PITSLRE proteins), mRNA (cDNA clone IMAGE:4121554), partial cds.						apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						TCTCTGCTTTCTCCTCTTGTT	0.328													9	13					0	0	0.058154	0	0	G	1588852	C	G	1588852	1	3	13	0	1	0	0	0	0	0	0	0	3127	928	32	5		5	CDK11B	1	1588852	RNA	SNP	C	TCGA-CS-6188-01A-11D-1893-08		1588852	247661769	1	514											
NOTCH2	4853	broad.mit.edu	37	chr1	120502127	120502127	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaatttcacaattaaccccTggaagagaaaacccaacgga	17	8	6	10	1	1	1	1	0	0	1	1	4	1	3	3	2	3	0	3	2	7	3			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr1:120502127T>C	uc001eik.3	-	12	2213	c.1916_splice	c.e12-1	p.G639_splice	NOTCH2_uc001eil.3_Splice_Site_p.G639_splice|NOTCH2_uc021osy.1_Splice_Site_p.G600_splice|NOTCH2_uc001eim.4_Splice_Site_p.G556_splice	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	639	EGF-like 16; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATTAACCCCTGGAAGAGAAA	0.403			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				14	40					0	0	0.105934	0	0	C	120502127	T	C	120502127	5	2	13	1	0	0	0	0	0	0	1	0	10548	1594	55	4	5593	4	NOTCH2	1	120502127	Splice_Site	SNP	T	TCGA-CS-6188-01A-11D-1893-08	118913275	120502127	128748494	2	515											
NUP210L	91181	broad.mit.edu	37	chr1	154062057	154062057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacctggatgatttccaattCggaatgtgagaacctttaag	12	12	9	8	1	0	2	0	2	0	1	2	5	1	4	3	2	1	0	3	2	4	4			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr1:154062057C>T	uc001fdw.3	-	15	2273	c.2201G>A	c.(2200-2202)cGa>cAa	p.R734Q	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Missense_Mutation_p.R734Q	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	734						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ATTTCCAATTCGGAATGTGAG	0.423													44	74					0	0	0.11126	0	0	T	154062057	C	T	154062057	3	4	13	1	0	0	0	0	1	0	0	0	10761	884	31	2	3565	2	NUP210L	1	154062057	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08	33559930	154062057	95188564	3	516											
OR2T8	343172	broad.mit.edu	37	chr1	248084419	248084419	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatggttctgagtatcgttTtgacctccctgtttggcaat	6	17	10	8	1	1	3	0	3	1	0	3	3	2	3	2	2	0	5	2	2	2	5			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr1:248084419T>C	uc010pzc.2	+	0	100	c.100T>C	c.(100-102)Ttg>Ctg	p.L34L		NM_001005522	NP_001005522	A6NH00	OR2T8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 8 (OR2T8), mRNA.	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V33F(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	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)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GAGTATCGTTTTGACCTCCCT	0.488													27	48					0	0	0.173368	0	0	C	248084419	T	C	248084419	2	2	13	1	0	0	0	0	0	0	0	1	11030	1838	64	3		3	OR2T8	1	248084419	Silent	SNP	T	TCGA-CS-6188-01A-11D-1893-08	94022362	248084419	1166202	4	517											
OR2L8	391190	broad.mit.edu	37	chr1	248112252	248112252	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcttcttcattctcattgtTttcattttcctgatggctct	4	23	4	10	0	6	1	3	1	4	0	8	1	7	1	1	1	0	2	1	1	0	9			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr1:248112252T>C	uc001idt.1	+	0	93	c.93T>C	c.(91-93)gtT>gtC	p.V31V	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	31					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)			TTCTCATTGTTTTCATTTTCC	0.393													77	161					0	0	0.139131	0	0	C	248112252	T	C	248112252	2	2	13	1	0	0	0	0	0	0	0	1	11009	1828	64	3		3	OR2L8	1	248112252	Silent	SNP	T	TCGA-CS-6188-01A-11D-1893-08	27833	248112252	1138369	5	518											
HJURP	55355	broad.mit.edu	37	chr2	234750376	234750376	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttccaattttaaacctgtCttacggcaagaaacatctaa	14	14	4	9	1	2	1	0	0	2	1	3	1	3	1	2	1	3	1	2	1	7	6			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr2:234750376C>G	uc002vvg.3	-	7	1116	c.1050G>C	c.(1048-1050)aaG>aaC	p.K350N	HJURP_uc010znd.2_Missense_Mutation_p.K289N|HJURP_uc010zne.2_Missense_Mutation_p.K258N	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Homo sapiens Holliday junction recognition protein (HJURP), mRNA.	350					CenH3-containing nucleosome assembly at centromere|cell cycle|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TTAAACCTGTCTTACGGCAAG	0.443													21	37					0	0	0.062417	0	0	G	234750376	C	G	234750376	3	3	13	1	0	0	0	0	1	0	0	0	7189	912	32	5	1204	5	HJURP	2	234750376	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08		234750376	8448997	6	519											
HPS3	84343	broad.mit.edu	37	chr3	148884979	148884979	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atactgttagagagatgcccGgaggcagtcattccatatgc	11	10	11	9	1	1	2	1	0	0	2	2	4	2	3	2	2	3	2	2	2	3	4			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr3:148884979G>A	uc003ewu.1	+	14	2888	c.2748G>A	c.(2746-2748)ccG>ccA	p.P916P	CP_uc011bnr.2_Intron|HPS3_uc011bnq.1_Silent_p.P751P|HPS3_uc003ewv.1_Non-coding_Transcript	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA.	916						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGAGATGCCCGGAGGCAGTCA	0.423									Hermansky-Pudlak syndrome				3	57					0	0	0.115264	0	0	A	148884979	G	A	148884979	2	1	13	1	0	0	0	0	0	0	0	1	7340	1103	39	2		2	HPS3	3	148884979	Silent	SNP	G	TCGA-CS-6188-01A-11D-1893-08		148884979	49137451	7	520											
TRA2B	6434	broad.mit.edu	37	chr3	185639892	185639892	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctacgcccatcaagctccAttccattggcacgttcttta	8	13	5	15	2	2	0	1	0	1	0	5	0	5	0	4	1	2	3	4	1	3	6			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr3:185639892A>C	uc003fpv.3	-	4	821	c.545T>G	c.(544-546)aTg>aGg	p.M182R	TRA2B_uc003fpt.3_Non-coding_Transcript|TRA2B_uc003fpu.3_Non-coding_Transcript|TRA2B_uc010hym.3_Missense_Mutation_p.M82R	NM_004593	NP_001230808	P62995	TRA2B_HUMAN	Homo sapiens transformer 2 beta homolog (Drosophila) (TRA2B), transcript variant 1, mRNA.	182	RRM.				nuclear mRNA splicing, via spliceosome	nucleus	RNA binding|nucleotide binding|protein binding			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						ATCAAGCTCCATTCCATTGGC	0.408													12	46					0	0	0.09319	0	0	C	185639892	A	C	185639892	3	2	13	1	0	0	0	0	1	0	0	0	16431	217	8	5	341	5	TRA2B	3	185639892	Missense_Mutation	SNP	A	TCGA-CS-6188-01A-11D-1893-08	36754913	185639892	12382538	8	521											
NCAPG	64151	broad.mit.edu	37	chr4	17843981	17843981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgaacaggaggtgtcagaCtgctgaagccgactctgaaa	13	6	13	9	2	2	3	1	2	1	1	2	7	2	4	1	2	3	1	1	2	3	0			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr4:17843981C>T	uc003gpp.3	+	19	3079	c.2903C>T	c.(2902-2904)aCt>aTt	p.T968I	NCAPG_uc011bxj.2_Missense_Mutation_p.T477I	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN	Homo sapiens non-SMC condensin I complex, subunit G (NCAPG), mRNA.	968					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		AGGTGTCAGACTGCTGAAGCC	0.353													17	27					0	0	0.175082	0	0	T	17843981	C	T	17843981	3	4	13	1	0	0	0	0	1	0	0	0	10207	565	20	3	2981	3	NCAPG	4	17843981	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08		17843981	173310295	9	522											
ADAMTS12	81792	broad.mit.edu	37	chr5	33648939	33648939	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acacttacttctacttcctgGcagaaggtagcattgggtcc	9	12	9	11	0	1	1	0	0	1	1	3	1	3	1	2	3	3	3	2	3	4	6			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr5:33648939G>A	uc003jia.1	-	8	1630	c.1467C>T	c.(1465-1467)tgC>tgT	p.C489C	ADAMTS12_uc010iuq.1_Silent_p.C489C	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	489	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.C489F(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTACTTCCTGGCAGAAGGTAG	0.473										HNSCC(64;0.19)			29	110					0	0	0.108266	0	0	A	33648939	G	A	33648939	2	1	13	1	0	0	0	0	0	0	0	1	257	1195	42	3		3	ADAMTS12	5	33648939	Silent	SNP	G	TCGA-CS-6188-01A-11D-1893-08		33648939	147266321	10	523											
PIK3R1	5295	broad.mit.edu	37	chr5	67589632	67589634	+	In_Frame_Del	DEL	ATT	ATT	-																															aaaagtcgagaatatgatagAttatatgaagaatatacccg																										TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr5:67589632_67589634delATT	uc003jva.3	+	10	1975_1977	c.1395_1397delATT	c.(1393-1398)agatta>aga	p.L466del	PIK3R1_uc003jvc.3_In_Frame_Del_p.L166del|PIK3R1_uc003jvd.3_In_Frame_Del_p.L196del|PIK3R1_uc003jve.3_In_Frame_Del_p.L145del|PIK3R1_uc021xzn.1_In_Frame_Del_p.L103del|PIK3R1_uc011crb.2_In_Frame_Del_p.L136del	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	466					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.Y463_L466del(2)|p.D434_Q475del(2)|p.0?(1)|p.?(1)|p.E462_R465delEYDR(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AATATGATAGATTATATGAAGAA	0.291			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			14	51	---	---	---	---						-	67589634	ATT	-	67589632	7	5	13	1	0	1	0	1	0	0	0	0	11918	330	12	0	1563	0	PIK3R1	5	67589632	In_Frame_Del	DEL	ATT	TCGA-CS-6188-01A-11D-1893-08	33940693	67589632	113325628	11	524											
SHROOM1	134549	broad.mit.edu	37	chr5	132159379	132159379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacatggctggtcaagcacaGggtgggtggcagggttttca	8	9	16	8	0	2	0	2	0	0	0	2	0	2	0	0	6	1	4	0	6	1	2			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr5:132159379G>A	uc003kxx.3	-	7	2694	c.1889C>T	c.(1888-1890)cCt>cTt	p.P630L	SHROOM1_uc003kxy.2_Missense_Mutation_p.P630L	NM_001172700	NP_001166171	Q2M3G4	SHRM1_HUMAN	Homo sapiens shroom family member 1 (SHROOM1), transcript variant 1, mRNA.	630	ASD2.				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTCAAGCACAGGGTGGGTGGC	0.612													40	96					0	0	0.080422	0	0	A	132159379	G	A	132159379	3	1	13	1	0	0	0	0	1	0	0	0	14293	1000	35	3	681	3	SHROOM1	5	132159379	Missense_Mutation	SNP	G	TCGA-CS-6188-01A-11D-1893-08	64569747	132159379	48755881	12	525											
PCDHAC2	56134	broad.mit.edu	37	chr5	140188796	140188796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgtggagagtggacaggCgccaaaggcctcctcacggg	9	6	15	11	2	1	1	1	0	0	1	2	3	2	2	3	5	0	0	3	5	1	1			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr5:140188796C>T	uc003lhi.2	+	0	2125	c.2024C>T	c.(2023-2025)gCg>gTg	p.A675V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.A675V|PCDHAC2_uc011daa.2_Missense_Mutation_p.A675V	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	686	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGGACAGGCGCCAAAGGCC	0.657													16	77					0	0	0.160694	0	0	T	140188796	C	T	140188796	3	4	13	1	0	0	0	0	1	0	0	0	11533	768	27	1		1	PCDHAC2	5	140188796	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08	8029417	140188796	40726464	13	526											
SLC36A2	153201	broad.mit.edu	37	chr5	150704990	150704990	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagtggcgggcattcttCatcttgttttccagaggcag	7	12	14	8	1	3	1	1	0	2	1	4	2	4	2	1	4	0	3	1	4	1	5			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr5:150704990C>A	uc003lty.3	-	7	997	c.867G>T	c.(865-867)atG>atT	p.M289I	SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_Missense_Mutation_p.M91I|SLC36A2_uc010jhv.2_Missense_Mutation_p.M289I	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.	289					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCATTCTTCATCTTGTTTT	0.468													24	46					1.22574e-08	1.35192e-08	0.069288	1	0	A	150704990	C	A	150704990	3	1	13	1	0	0	0	0	1	0	0	0	14594	826	29	5	596	5	SLC36A2	5	150704990	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08	10516194	150704990	30210270	14	527											
FAT2	2196	broad.mit.edu	37	chr5	150922417	150922417	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtacaatttggtggattcGtggtccatgggcttcctcac	6	14	12	9	1	1	0	1	0	0	0	4	1	3	1	2	5	1	2	2	5	2	4			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr5:150922417G>A	uc003lue.4	-	8	8284	c.8271C>T	c.(8269-8271)caC>caT	p.H2757H		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2757	Cadherin 24.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGTGGATTCGTGGTCCATGG	0.512													49	114					0	0	0.139131	0	0	A	150922417	G	A	150922417	2	1	13	1	0	0	0	0	0	0	0	1	5690	1136	40	1		1	FAT2	5	150922417	Silent	SNP	G	TCGA-CS-6188-01A-11D-1893-08	217427	150922417	29992843	15	528											
ATP10B	23120	broad.mit.edu	37	chr5	160047525	160047525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtgccctggggcaggcGcacagtcacctgctcaggtg	6	6	16	13	1	2	0	2	0	0	0	2	0	2	0	2	5	2	4	2	5	0	0			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr5:160047525G>A	uc003lym.1	-	14	3092	c.2245C>T	c.(2245-2247)Cgc>Tgc	p.R749C	ATP10B_uc010jit.1_Missense_Mutation_p.R66C|ATP10B_uc003lyn.3_Missense_Mutation_p.R307C	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	749					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGGGCAGGCGCACAGTCACC	0.617													16	38					0	0	0.132662	0	0	A	160047525	G	A	160047525	3	1	13	1	0	0	0	0	1	0	0	0	1117	1087	38	1	2188	1	ATP10B	5	160047525	Missense_Mutation	SNP	G	TCGA-CS-6188-01A-11D-1893-08	9125108	160047525	20867735	16	529											
DSP	1832	broad.mit.edu	37	chr6	7571618	7571618	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcctgtctcctttcagctGaaaacaatgcggcaggaaga	11	9	10	11	1	2	2	1	1	1	1	3	3	2	3	2	2	4	2	2	2	4	1			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr6:7571618G>A	uc003mxp.1	+	13	1983	c.1704G>A	c.(1702-1704)ctG>ctA	p.L568L	DSP_uc003mxq.1_Silent_p.L568L|DSP_uc021yle.1_Silent_p.L568L	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	568	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)		CCTTTCAGCTGAAAACAATGC	0.453													110	200					0	0	0.139131	0	0	A	7571618	G	A	7571618	2	1	13	1	0	0	0	0	0	0	0	1	4781	1277	45	3		3	DSP	6	7571618	Silent	SNP	G	TCGA-CS-6188-01A-11D-1893-08		7571618	163543449	17	530											
DSP	1832	broad.mit.edu	37	chr6	7571689	7571689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acattaccaagagttcatcaGaaatagccaaggctcagaga	17	7	8	9	0	3	3	3	0	0	3	3	4	3	3	2	1	2	2	2	1	5	3			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr6:7571689G>A	uc003mxp.1	+	13	2054	c.1775G>A	c.(1774-1776)aGa>aAa	p.R592K	DSP_uc003mxq.1_Missense_Mutation_p.R592K|DSP_uc021yle.1_Missense_Mutation_p.R592K	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	592	Globular 1.				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)		GAGTTCATCAGAAATAGCCAA	0.453													95	171					0	0	0.139131	0	0	A	7571689	G	A	7571689	3	1	13	1	0	0	0	0	1	0	0	0	4781	942	33	3	1829	3	DSP	6	7571689	Missense_Mutation	SNP	G	TCGA-CS-6188-01A-11D-1893-08	71	7571689	163543378	18	531											
HLA-F	3134	broad.mit.edu	37	chr6	29693049	29693049	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacacatgccatgtgcagcaCgaggggctgccccagcccct	8	6	11	16	1	0	0	0	0	0	0	0	1	0	0	5	2	6	3	5	2	1	1			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr6:29693049C>T	uc003nno.4	+	3	976	c.852C>T	c.(850-852)caC>caT	p.H284H	HLA-F_uc010jrl.3_Silent_p.H284H|HLA-F_uc003nnm.4_Intron|HLA-F_uc011dlx.1_Silent_p.H284H|HLA-F_uc011dly.1_Non-coding_Transcript	NM_001098479	NP_001091949	P30511	HLAF_HUMAN	Homo sapiens major histocompatibility complex, class I, F (HLA-F), transcript variant 1, mRNA.	284	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						ATGTGCAGCACGAGGGGCTGC	0.597													22	61					0	0	0.069288	0	0	T	29693049	C	T	29693049	2	4	13	1	0	0	0	0	0	0	0	1	7211	535	19	1		1	HLA-F	6	29693049	Silent	SNP	C	TCGA-CS-6188-01A-11D-1893-08	22121360	29693049	141422018	19	532											
CRISP3	10321	broad.mit.edu	37	chr6	49701500	49701500	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tactcatcaaaccagctttgGattgcttgtgaccatgagct	10	13	8	10	0	2	2	2	2	0	0	2	3	2	3	2	1	5	3	2	1	2	4			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr6:49701500G>C	uc021zai.1	-	4	496	c.408C>G	c.(406-408)atC>atG	p.I136M	CRISP3_uc003ozs.3_Missense_Mutation_p.I126M	NM_001190986	NP_001177915	P54108	CRIS3_HUMAN	Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA.	113					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			ACCAGCTTTGGATTGCTTGTG	0.433													49	94					0	0	0.139131	0	0	C	49701500	G	C	49701500	3	2	13	1	0	0	0	0	1	0	0	0	3881	1164	41	5	414	5	CRISP3	6	49701500	Missense_Mutation	SNP	G	TCGA-CS-6188-01A-11D-1893-08	20008451	49701500	121413567	20	533											
BAI3	577	broad.mit.edu	37	chr6	70048901	70048901	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagccaccaccgccagtaaCgccatgttagtcccaatcat	11	8	6	16	2	2	0	2	0	0	0	3	0	3	0	6	0	2	2	6	0	3	2	rs138734026		TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr6:70048901C>T	uc010kak.3	+	23	3558	c.3282C>T	c.(3280-3282)aaC>aaT	p.N1094N	BAI3_uc003pev.4_Silent_p.N1094N|BAI3_uc011dxx.2_Silent_p.N300N	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1094					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CCGCCAGTAACGCCATGTTAG	0.398													49	143					0	0	0.139131	0	0	T	70048901	C	T	70048901	2	4	13	1	0	0	0	0	0	0	0	1	1300	535	19	1		1	BAI3	6	70048901	Silent	SNP	C	TCGA-CS-6188-01A-11D-1893-08	20347401	70048901	101066166	21	534											
LACE1	246269	broad.mit.edu	37	chr6	108768486	108768486	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggaacttcctgctgcaggaAaactctactacctgtaagtg	11	10	10	10	0	1	0	0	0	1	0	2	2	2	2	2	2	6	3	2	2	6	4			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr6:108768486A>G	uc003psj.3	+	7	1063	c.877A>G	c.(877-879)Aaa>Gaa	p.K293E		NM_145315	NP_660358	Q8WV93	LACE1_HUMAN	Homo sapiens lactation elevated 1 (LACE1), mRNA.	293							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		TGCTGCAGGAAAACTCTACTA	0.328													22	38					0	0	0.099896	0	0	G	108768486	A	G	108768486	3	3	13	1	0	0	0	0	1	0	0	0	8595	15	1	3	907	3	LACE1	6	108768486	Missense_Mutation	SNP	A	TCGA-CS-6188-01A-11D-1893-08	38719585	108768486	62346581	22	535											
CDC40	51362	broad.mit.edu	37	chr6	110533410	110533410	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggtgttaatctacggtcaActatgccacctgagaagtgt	10	13	10	8	1	2	1	1	1	1	1	2	2	2	1	2	2	3	1	2	2	5	4	rs147439944	byFrequency	TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr6:110533410A>G	uc003pua.3	+	6	863	c.802A>G	c.(802-804)Act>Gct	p.T268A		NM_015891	NP_056975	O60508	PRP17_HUMAN	Homo sapiens cell division cycle 40 homolog (S. cerevisiae) (CDC40), mRNA.	268					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		TCTACGGTCAACTATGCCACC	0.383													35	50					0	0	0.069456	0	0	G	110533410	A	G	110533410	3	3	13	1	0	0	0	0	1	0	0	0	3070	43	2	3	828	3	CDC40	6	110533410	Missense_Mutation	SNP	A	TCGA-CS-6188-01A-11D-1893-08	1764924	110533410	60581657	23	536											
COL1A2	1278	broad.mit.edu	37	chr7	94043557	94043557	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctggcccctcaggtccCgctggtgaagttggcaaacc	6	8	12	15	1	1	1	1	1	0	0	2	1	2	1	5	4	2	3	5	4	2	1			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr7:94043557C>T	uc003ung.1	+	28	2160	c.1689C>T	c.(1687-1689)ccC>ccT	p.P563P	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	563					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.G562G(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCTCAGGTCCCGCTGGTGAAG	0.428										HNSCC(75;0.22)			11	46					0	0	0.105934	0	0	T	94043557	C	T	94043557	2	4	13	1	0	0	0	0	0	0	0	1	3678	639	23	2		2	COL1A2	7	94043557	Silent	SNP	C	TCGA-CS-6188-01A-11D-1893-08		94043557	65095106	24	537											
LRRC17	10234	broad.mit.edu	37	chr7	102574365	102574365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctggatgtcaggatgcGtgtggttaccattgtaatct	8	13	12	8	1	2	0	1	0	1	0	2	2	2	2	2	3	3	3	2	3	2	3			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr7:102574365G>A	uc003vau.3	+	1	394	c.5G>A	c.(4-6)cGt>cAt	p.R2H	FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.3_Missense_Mutation_p.R2H	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN	Homo sapiens leucine rich repeat containing 17 (LRRC17), transcript variant 1, mRNA.	2					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						GTCAGGATGCGTGTGGTTACC	0.493													14	22					0	0	0.105934	0	0	A	102574365	G	A	102574365	3	1	13	1	0	0	0	0	1	0	0	0	8973	1145	40	1	7	1	LRRC17	7	102574365	Missense_Mutation	SNP	G	TCGA-CS-6188-01A-11D-1893-08	8530808	102574365	56564298	25	538											
RELN	5649	broad.mit.edu	37	chr7	103338477	103338477	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccactgaaattggacattCtcccctttggcgtcctcagg	7	13	8	13	1	2	1	1	1	1	0	5	2	4	2	4	3	0	0	4	3	1	4			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr7:103338477C>T	uc022ajr.1	-	9	1126	c.966G>A	c.(964-966)gaG>gaA	p.E322E	RELN_uc022ajq.1_Silent_p.E322E|RELN_uc010liz.3_Silent_p.E322E	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	322					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATTGGACATTCTCCCCTTTGG	0.458													66	178					0	0	0.139131	0	0	T	103338477	C	T	103338477	2	4	13	1	0	0	0	0	0	0	0	1	13220	912	32	3		3	RELN	7	103338477	Silent	SNP	C	TCGA-CS-6188-01A-11D-1893-08	764112	103338477	55800186	26	539											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37729419	37729419	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatctattctttcatcatcCgatgcgacttcaggaatgga	10	14	8	9	2	5	1	3	1	2	0	6	5	6	3	1	2	1	0	1	2	2	4			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr8:37729419C>T	uc003xkm.2	-	3	2957	c.2901G>A	c.(2899-2901)tcG>tcA	p.S967S	RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_Silent_p.S296S|RAB11FIP1_uc003xko.1_Silent_p.S296S|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	967					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TTTCATCATCCGATGCGACTT	0.453													40	87					0	0	0.104719	0	0	T	37729419	C	T	37729419	2	4	13	1	0	0	0	0	0	0	0	1	12893	639	23	2		2	RAB11FIP1	8	37729419	Silent	SNP	C	TCGA-CS-6188-01A-11D-1893-08		37729419	108634603	27	540											
PCMTD1	115294	broad.mit.edu	37	chr8	52733191	52733191	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctttgaggaatccccttgGcctgcatctcatcatttatg	7	14	7	13	0	2	1	2	1	1	0	4	2	3	2	4	2	1	1	4	2	2	4			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr8:52733191G>T	uc003xqx.4	-	5	1135	c.794C>A	c.(793-795)gCc>gAc	p.A265D	PCMTD1_uc011ldm.2_Missense_Mutation_p.A135D|PCMTD1_uc011ldn.2_Missense_Mutation_p.A77D|PCMTD1_uc010lya.3_Missense_Mutation_p.A189D	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 (PCMTD1), mRNA.	265						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	p.A265A(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				AATCCCCTTGGCCTGCATCTC	0.413													5	185					1.76689e-08	1.92054e-08	0.058154	1	0	T	52733191	G	T	52733191	3	4	13	1	0	0	0	0	1	0	0	0	11586	1203	42	5	283	5	PCMTD1	8	52733191	Missense_Mutation	SNP	G	TCGA-CS-6188-01A-11D-1893-08	15003772	52733191	93630831	28	541											
SOX17	64321	broad.mit.edu	37	chr8	55372202	55372202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcccttcacgtgtactacGgcgcgatgggctcgcccggg	4	7	15	15	7	1	0	1	0	0	0	2	1	1	0	2	3	2	2	2	3	2	3			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr8:55372202G>A	uc003xsb.4	+	1	1096	c.892G>A	c.(892-894)Ggc>Agc	p.G298S		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	Homo sapiens SRY (sex determining region Y)-box 17 (SOX17), mRNA.	298	Sox C-terminal.				Wnt receptor signaling pathway|angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CGTGTACTACGGCGCGATGGG	0.766													2	0					0	0	0.115264	0	0	A	55372202	G	A	55372202	3	1	13	1	0	0	0	0	1	0	0	0	14947	1116	39	2	898	2	SOX17	8	55372202	Missense_Mutation	SNP	G	TCGA-CS-6188-01A-11D-1893-08	2639011	55372202	90991820	29	542											
FAM135B	51059	broad.mit.edu	37	chr8	139158292	139158292	+	Splice_Site	DEL	C	C	-																															agccggaggtctgcactgttCcctaaaaatgacagataacc																										TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr8:139158292delC	uc003yuy.3	-	15	3620	c.3449_splice	c.e15-1	p.G1150_splice	FAM135B_uc003yux.3_Splice_Site_p.G1051_splice|FAM135B_uc003yuz.3_Splice_Site|FAM135B_uc003yva.3_Splice_Site_p.G712_splice|FAM135B_uc003yvb.3_Splice_Site_p.W677_splice	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1150										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTGCACTGTTCCCTAAAAATG	0.448										HNSCC(54;0.14)			32	97	---	---	---	---						-	139158292	C	-	139158292	8	5	13	1	0	1	0	1	0	0	1	0	5449	869	30	0	794	0	FAM135B	8	139158292	Splice_Site	DEL	C	TCGA-CS-6188-01A-11D-1893-08	83786090	139158292	7205730	30	543											
EPPK1	83481	broad.mit.edu	37	chr8	144942253	144942253	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaagaagcccttggtgtcGtcgctggggtccgccaggat	6	9	15	11	4	0	1	0	0	0	1	4	3	1	2	3	4	1	1	3	4	2	1			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr8:144942253G>A	uc003zaa.1	-	0	5182	c.5169C>T	c.(5167-5169)gaC>gaT	p.D1723D		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1723						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTTGGTGTCGTCGCTGGGGT	0.657													48	84					0	0	0.139131	0	0	A	144942253	G	A	144942253	2	1	13	1	0	0	0	0	0	0	0	1	5190	1136	40	1		1	EPPK1	8	144942253	Silent	SNP	G	TCGA-CS-6188-01A-11D-1893-08	5783961	144942253	1421769	31	544											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112900626	112900626	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccactcaagaatctgaCgtgatggttgggcctttcaa	9	11	11	10	1	3	3	2	2	1	1	3	3	3	3	2	3	0	1	2	3	3	2			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr9:112900626C>T	uc004bei.2	+	8	3690	c.3498C>T	c.(3496-3498)gaC>gaT	p.D1166D	PALM2-AKAP2_uc004bej.4_Silent_p.D934D|PALM2-AKAP2_uc004bek.4_Silent_p.D934D|PALM2-AKAP2_uc004bel.1_Silent_p.D744D|PALM2-AKAP2_uc011lwi.2_Silent_p.D792D|PALM2-AKAP2_uc004bem.3_Silent_p.D792D|PALM2-AKAP2_uc010mtw.1_Silent_p.D752D|PALM2-AKAP2_uc011lwj.2_Silent_p.D703D|PALM2-AKAP2_uc004ben.3_Silent_p.D703D	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	703							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						AAGAATCTGACGTGATGGTTG	0.547													13	39					0	0	0.09319	0	0	T	112900626	C	T	112900626	2	4	13	1	0	0	0	0	0	0	0	1	11410	535	19	1		1	PALM2-AKAP2	9	112900626	Silent	SNP	C	TCGA-CS-6188-01A-11D-1893-08		112900626	28312805	32	545											
OLFM1	10439	broad.mit.edu	37	chr9	137998621	137998621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaagttgacgggcatcagtGaccccgtgactgtcaagacc	10	7	13	11	2	2	4	2	3	0	1	2	5	2	5	3	2	0	2	3	2	2	1			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr9:137998621G>A	uc010nar.3	+	4	722	c.703G>A	c.(703-705)Gac>Aac	p.D235N	OLFM1_uc004cfl.4_Missense_Mutation_p.D217N|OLFM1_uc004cfn.4_5'UTR	NM_014279	NP_055094	Q99784	NOE1_HUMAN	Homo sapiens olfactomedin 1 (OLFM1), transcript variant 1, mRNA.	235	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		GGGCATCAGTGACCCCGTGAC	0.637													8	22					0	0	0.058154	0	0	A	137998621	G	A	137998621	3	1	13	1	0	0	0	0	1	0	0	0	10852	1290	45	3	677	3	OLFM1	9	137998621	Missense_Mutation	SNP	G	TCGA-CS-6188-01A-11D-1893-08	25097995	137998621	3214810	33	546											
KIF20B	9585	broad.mit.edu	37	chr10	91498265	91498265	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagatttaaatgtaaaggaaCtcaagctgaaagaagaaatc	21	8	8	4	0	1	4	1	1	0	3	2	5	1	5	0	1	2	2	0	1	10	3			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr10:91498265C>T	uc001kgs.1	+	19	3739	c.3667C>T	c.(3667-3669)Ctc>Ttc	p.L1223F	KIF20B_uc001kgr.1_Missense_Mutation_p.L1183F|KIF20B_uc001kgt.1_Missense_Mutation_p.L434F|KIF20B_uc009xtw.1_Non-coding_Transcript	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	1223					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|WW domain binding|microtubule motor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TGTAAAGGAACTCAAGCTGAA	0.299													13	23					0	0	0.175082	0	0	T	91498265	C	T	91498265	3	4	13	1	0	0	0	0	1	0	0	0	8287	565	20	3	3621	3	KIF20B	10	91498265	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08		91498265	44036482	34	547											
CABP2	51475	broad.mit.edu	37	chr11	67287316	67287316	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacgtcctggaggatctcGtccacctcccgctggctgag	5	9	11	16	3	1	1	0	1	1	0	6	3	5	3	5	3	0	2	5	3	0	0			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr11:67287316G>A	uc001ome.1	-	5	691	c.603C>T	c.(601-603)gaC>gaT	p.D201D	CABP2_uc001omc.1_Silent_p.D195D			Q9NPB3	CABP2_HUMAN	Homo sapiens calcium binding protein 2 (CABP2), mRNA.	195	EF-hand 4.				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						GGAGGATCTCGTCCACCTCCC	0.667													17	58					0	0	0.049695	0	0	A	67287316	G	A	67287316	2	1	13	1	0	0	0	0	0	0	0	1	2532	1136	40	1		1	CABP2	11	67287316	Silent	SNP	G	TCGA-CS-6188-01A-11D-1893-08		67287316	67719200	35	548											
C11orf53	341032	broad.mit.edu	37	chr11	111154951	111154951	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccgcagggcagagccatgCggctctcctggagccctact	6	7	12	16	2	1	1	0	0	1	1	3	2	2	2	4	3	4	3	4	3	1	1			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr11:111154951C>T	uc001plc.3	+	2	305	c.158C>T	c.(157-159)gCg>gTg	p.A53V		NM_198498	NP_940900	Q8IXP5	CK053_HUMAN	Homo sapiens chromosome 11 open reading frame 53 (C11orf53), mRNA.	53										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		CAGAGCCATGCGGCTCTCCTG	0.622													5	193					0	0	0.014758	0	0	T	111154951	C	T	111154951	3	4	13	1	0	0	0	0	1	0	0	0	1648	768	27	1	164	1	C11orf53	11	111154951	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08	43867635	111154951	23851565	36	549											
VPS11	55823	broad.mit.edu	37	chr11	118941054	118941054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtaactggattggcctttCgccaagcaggaaagaccact	11	9	10	11	1	0	1	0	0	0	1	1	3	0	3	3	3	2	2	3	3	3	3			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr11:118941054C>T	uc010ryx.2	+	4	619	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	VPS11_uc010ryy.2_Missense_Mutation_p.R41C	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	Homo sapiens vacuolar protein sorting 11 homolog (S. cerevisiae) (VPS11), mRNA.	195					protein transport	HOPS complex|endocytic vesicle|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		ATTGGCCTTTCGCCAAGCAGG	0.517													12	23					0	0	0.11911	0	0	T	118941054	C	T	118941054	3	4	13	1	0	0	0	0	1	0	0	0	17185	884	31	2	596	2	VPS11	11	118941054	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08	7786103	118941054	16065462	37	550											
SLC2A3	6515	broad.mit.edu	37	chr12	8083869	8083869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagaattccaacaacgatgCccagctggttgagagtgcca	12	7	10	12	1	0	2	0	1	0	2	1	4	1	2	4	1	5	2	4	1	3	2			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr12:8083869C>T	uc001qtr.3	-	3	744	c.482G>A	c.(481-483)gGc>gAc	p.G161D		NM_006931	NP_008862	P11169	GTR3_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 3 (SLC2A3), mRNA.	161					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		AACAACGATGCCCAGCTGGTT	0.488													26	100					0	0	0.108266	0	0	T	8083869	C	T	8083869	3	4	13	1	0	0	0	0	1	0	0	0	14545	739	26	3	1036	3	SLC2A3	12	8083869	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08		8083869	125768026	38	551											
GPC5	2262	broad.mit.edu	37	chr13	92101015	92101015	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaaatgttgtgtgttccagGacctgatcttcaggtttgca	10	14	10	7	0	2	1	1	1	1	0	3	2	3	2	2	2	1	4	2	2	2	4			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr13:92101015G>T	uc010tif.2	+	2	530	c.164_splice	c.e2-1	p.G55_splice		NM_004466	NP_004457	P78333	GPC5_HUMAN	Homo sapiens glypican 5 (GPC5), mRNA.	55						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TGTGTTCCAGGACCTGATCTT	0.413													22	46					1.10513e-12	1.23709e-12	0.069288	1	0	T	92101015	G	T	92101015	5	4	13	1	0	0	0	0	0	0	1	0	6601	1188	41	5	170	5	GPC5	13	92101015	Splice_Site	SNP	G	TCGA-CS-6188-01A-11D-1893-08		92101015	23068863	39	552											
ACIN1	22985	broad.mit.edu	37	chr14	23550990	23550990	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatgatcgtctttctcctttCcttggtttctcatcatcaga	6	18	6	11	1	5	2	3	1	3	1	9	3	6	2	2	1	0	1	2	1	0	4			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr14:23550990C>T	uc001wit.4	-	4	994	c.666G>A	c.(664-666)agG>agA	p.R222R	ACIN1_uc001wis.4_5'Flank|ACIN1_uc010akg.3_Silent_p.R222R|ACIN1_uc010tnj.2_Silent_p.R182R	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.	222	Glu-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TTTCTCCTTTCCTTGGTTTCT	0.388													33	67					0	0	0.080422	0	0	T	23550990	C	T	23550990	2	4	13	1	0	0	0	0	0	0	0	1	142	854	30	3		3	ACIN1	14	23550990	Silent	SNP	C	TCGA-CS-6188-01A-11D-1893-08		23550990	83798550	40	553											
AK7	122481	broad.mit.edu	37	chr14	96875258	96875258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacggtgatgacttgggcgCgctccaaagccctggacccc	7	6	13	15	4	0	2	0	2	0	0	1	4	1	3	4	3	1	1	4	3	1	1			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr14:96875258C>T	uc001yfn.2	+	3	522	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	160					cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GACTTGGGCGCGCTCCAAAGC	0.473													5	68					0	0	0.021553	0	0	T	96875258	C	T	96875258	3	4	13	1	0	0	0	0	1	0	0	0	444	768	27	1	492	1	AK7	14	96875258	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08	73324268	96875258	10474282	41	554											
PLA2G4D	283748	broad.mit.edu	37	chr15	42371771	42371771	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactccagcactagcgcccaCaggtccacaaaggtcgtggg	10	5	12	14	2	0	0	0	0	0	0	3	1	2	0	3	3	2	1	3	3	2	1			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr15:42371771C>G	uc001zox.3	-	12	1376	c.1281G>C	c.(1279-1281)ctG>ctC	p.L427L		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	427	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CTAGCGCCCACAGGTCCACAA	0.701													11	15					0	0	0.069234	0	0	G	42371771	C	G	42371771	2	3	13	1	0	0	0	0	0	0	0	1	12004	465	17	5		5	PLA2G4D	15	42371771	Silent	SNP	C	TCGA-CS-6188-01A-11D-1893-08		42371771	60159621	42	555											
ITGA11	22801	broad.mit.edu	37	chr15	68620499	68620499	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagaggaaggcggccaggCaggtggcatccctgccactg	9	4	16	12	1	0	1	0	0	0	1	1	2	1	2	3	6	2	3	3	6	1	0			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr15:68620499C>A	uc010bib.3	-	15	2090	c.2003G>T	c.(2002-2004)tGc>tTc	p.C668F	ITGA11_uc002ari.3_Missense_Mutation_p.C668F	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	668					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	p.C668F(2)|p.C668C(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GGCGGCCAGGCAGGTGGCATC	0.577													10	71					1.11149e-13	1.26306e-13	0.069234	1	0	A	68620499	C	A	68620499	3	1	13	1	0	0	0	0	1	0	0	0	7874	710	25	5	1623	5	ITGA11	15	68620499	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08	26248728	68620499	33910893	43	556											
CDYL2	124359	broad.mit.edu	37	chr16	80646582	80646582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagccagcaggcgtgaggcGgatggtggcgtagggcgtct	6	6	20	9	4	1	1	0	1	1	0	1	2	1	2	1	6	2	3	1	6	1	1			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr16:80646582G>A	uc002ffs.3	-	4	1264	c.1159C>T	c.(1159-1161)Cgc>Tgc	p.R387C		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	387						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GGCGTGAGGCGGATGGTGGCG	0.657													37	83					0	0	0.069456	0	0	A	80646582	G	A	80646582	3	1	13	1	0	0	0	0	1	0	0	0	3186	1116	39	2	373	2	CDYL2	16	80646582	Missense_Mutation	SNP	G	TCGA-CS-6188-01A-11D-1893-08		80646582	9708171	44	557											
KIAA0664	23277	broad.mit.edu	37	chr17	2601443	2601443	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcgttgagcacctggtgccGcaggatcttgaggggccgac	6	8	16	11	3	1	2	0	2	1	0	2	4	1	3	3	4	2	3	3	4	0	2			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr17:2601443G>A	uc002fuy.1	-	9	1680	c.1594C>T	c.(1594-1596)Cgg>Tgg	p.R532W	KIAA0664_uc002fux.1_Missense_Mutation_p.R464W	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	532							binding	p.R532W(3)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						ACCTGGTGCCGCAGGATCTTG	0.637													3	8					0	0	0.115264	0	0	A	2601443	G	A	2601443	3	1	13	1	0	0	0	0	1	0	0	0	8189	1086	38	1	2403	1	KIAA0664	17	2601443	Missense_Mutation	SNP	G	TCGA-CS-6188-01A-11D-1893-08		2601443	78593767	45	558											
MYOCD	93649	broad.mit.edu	37	chr17	12656007	12656007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcctctgacctgtcagtcGctgggtccctgccggacacc	4	9	10	18	2	2	1	1	1	1	0	5	2	4	2	6	2	1	1	6	2	0	0			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr17:12656007G>A	uc002gno.2	+	9	1701	c.1402G>A	c.(1402-1404)Gct>Act	p.A468T	MYOCD_uc002gnn.2_Missense_Mutation_p.A468T|MYOCD_uc002gnp.1_Missense_Mutation_p.A372T|MYOCD_uc002gnq.2_Missense_Mutation_p.A187T	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	468	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding	p.A468T(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCTGTCAGTCGCTGGGTCCCT	0.627													37	67					0	0	0.064281	0	0	A	12656007	G	A	12656007	3	1	13	1	0	0	0	0	1	0	0	0	10087	1087	38	1	1440	1	MYOCD	17	12656007	Missense_Mutation	SNP	G	TCGA-CS-6188-01A-11D-1893-08	10054564	12656007	68539203	46	559											
HGS	9146	broad.mit.edu	37	chr17	79657241	79657241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccagaattcaaagagagcGatgccatgtttgctgccgag	11	10	11	9	2	1	2	1	0	0	2	2	5	2	2	3	0	4	2	3	0	2	3			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr17:79657241G>A	uc002kbg.3	+	5	580	c.445G>A	c.(445-447)Gat>Aat	p.D149N	HGS_uc010wus.2_Missense_Mutation_p.D149N	NM_004712	NP_004703	O14964	HGS_HUMAN	Homo sapiens hepatocyte growth factor-regulated tyrosine kinase substrate (HGS), mRNA.	149					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of JAK-STAT cascade|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CAAAGAGAGCGATGCCATGTT	0.617													39	70					0	0	0.117977	0	0	A	79657241	G	A	79657241	3	1	13	1	0	0	0	0	1	0	0	0	7087	1058	37	2	467	2	HGS	17	79657241	Missense_Mutation	SNP	G	TCGA-CS-6188-01A-11D-1893-08	67001234	79657241	1537969	47	560											
ZNF555	148254	broad.mit.edu	37	chr19	2852903	2852903	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacaataacacacactggCgagaagccatataaatgtaa	19	6	6	10	1	0	1	0	0	0	1	0	2	0	1	1	1	2	1	1	1	7	4	rs148620935		TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr19:2852903C>T	uc002lwo.3	+	3	978	c.840C>T	c.(838-840)ggC>ggT	p.G280G	ZNF555_uc002lwn.4_Silent_p.G279G	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	Homo sapiens zinc finger protein 555 (ZNF555), transcript variant 1, mRNA.	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		CACACACTGGCGAGAAGCCAT	0.408													22	55					0	0	0.076483	0	0	T	2852903	C	T	2852903	2	4	13	1	0	0	0	0	0	0	0	1	17983	755	27	1		1	ZNF555	19	2852903	Silent	SNP	C	TCGA-CS-6188-01A-11D-1893-08		2852903	56276080	48	561											
CD209	30835	broad.mit.edu	37	chr19	7810483	7810483	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagctcacccactgcagcCttcagccgggtcagctcctg	7	7	11	16	1	3	0	3	0	0	0	4	1	4	1	4	2	5	3	4	2	1	1	rs11465379	byFrequency	TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr19:7810483C>A	uc002mht.2	-	3	736	c.669G>T	c.(667-669)aaG>aaT	p.K223N	CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Missense_Mutation_p.K199N|CD209_uc002mhr.2_Missense_Mutation_p.K199N|CD209_uc002mhs.2_Intron|CD209_uc002mhu.2_Intron|CD209_uc010dvq.2_Missense_Mutation_p.K223N|CD209_uc002mhq.2_Missense_Mutation_p.K223N|CD209_uc002mhv.2_Missense_Mutation_p.K199N|CD209_uc002mhx.2_Missense_Mutation_p.K179N|CD209_uc002mhw.2_Intron|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	223	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCACTGCAGCCTTCAGCCGGG	0.572													39	144					1.26778e-28	1.48568e-28	0.139131	1	0	A	7810483	C	A	7810483	3	1	13	1	0	0	0	0	1	0	0	0	2984	680	24	5	561	5	CD209	19	7810483	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08	4957580	7810483	51318500	49	562											
CD209	30835	broad.mit.edu	37	chr19	7810552	7810552	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagctcacccactgcagcCttcagccgggtcagctcctg	7	7	11	16	1	3	0	3	0	0	0	4	1	4	1	4	2	5	3	4	2	1	1			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr19:7810552C>A	uc002mht.2	-	3	667	c.600G>T	c.(598-600)aaG>aaT	p.K200N	CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Missense_Mutation_p.K176N|CD209_uc002mhr.2_Missense_Mutation_p.K176N|CD209_uc002mhs.2_Missense_Mutation_p.K176N|CD209_uc002mhu.2_Intron|CD209_uc010dvq.2_Missense_Mutation_p.K200N|CD209_uc002mhq.2_Missense_Mutation_p.K200N|CD209_uc002mhv.2_Missense_Mutation_p.K176N|CD209_uc002mhx.2_Missense_Mutation_p.K156N|CD209_uc002mhw.2_Intron|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	200	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCACTGCAGCCTTCAGCCGGG	0.557													6	216					0.000151284	0.000162091	0.105934	1	0	A	7810552	C	A	7810552	3	1	13	1	0	0	0	0	1	0	0	0	2984	680	24	5	630	5	CD209	19	7810552	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08	69	7810552	51318431	50	563											
GPATCH1	55094	broad.mit.edu	37	chr19	33608853	33608853	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatcctccgaggatgagcaAggtgacagtgaagatgatca	13	8	12	8	1	2	5	2	4	0	1	4	7	4	6	2	2	1	1	2	2	2	0			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr19:33608853A>G	uc002nug.1	+	15	2633	c.2319A>G	c.(2317-2319)caA>caG	p.Q773Q	GPATCH1_uc002nuh.1_Silent_p.Q150Q	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.	773						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					AGGATGAGCAAGGTGACAGTG	0.537													25	55					0	0	0.108266	0	0	G	33608853	A	G	33608853	2	3	13	1	0	0	0	0	0	0	0	1	6590	69	3	4		4	GPATCH1	19	33608853	Silent	SNP	A	TCGA-CS-6188-01A-11D-1893-08	25798301	33608853	25520130	51	564											
LILRA1	11024	broad.mit.edu	37	chr19	55087420	55087420	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggccatcccccactgcatCtgagatcagagcaccaagct	11	6	8	16	0	2	2	1	1	1	2	3	3	3	2	4	1	3	3	4	1	1	0			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr19:55087420C>G	uc010ern.3	+	6	1568	c.1099C>G	c.(1099-1101)Ctg>Gtg	p.L367V	LILRA1_uc002qgg.4_Missense_Mutation_p.L367V|LILRA1_uc002qgf.3_Missense_Mutation_p.L367V|LILRA1_uc010yfe.1_Missense_Mutation_p.L367V|LILRA1_uc010yff.1_Missense_Mutation_p.L355V|LILRA1_uc010ero.3_Missense_Mutation_p.L355V|LILRA1_uc010yfg.1_Intron			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	369	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCCACTGCATCTGAGATCAGA	0.587													34	94					0	0	0.092188	0	0	G	55087420	C	G	55087420	3	3	13	1	0	0	0	0	1	0	0	0	8784	912	32	5		5	LILRA1	19	55087420	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08	21478567	55087420	4041563	52	565											
RIPK4	54101	broad.mit.edu	37	chr21	43161015	43161015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctaggtcttgcttcgccGcaggagcgtggcggcggggc	4	7	18	12	5	1	0	0	0	1	0	2	1	1	1	1	6	3	3	1	6	1	3	rs140909597		TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr21:43161015G>A	uc002yzn.1	-	7	2386	c.2338C>T	c.(2338-2340)Cgg>Tgg	p.R780W		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	780						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TTGCTTCGCCGCAGGAGCGTG	0.667													15	29					0	0	0.132662	0	0	A	43161015	G	A	43161015	3	1	13	1	0	0	0	0	1	0	0	0	13383	1086	38	1	20	1	RIPK4	21	43161015	Missense_Mutation	SNP	G	TCGA-CS-6188-01A-11D-1893-08		43161015	4968880	53	566											
IL22RA1	58985	broad.mit.edu	37	chr1	24447958	24447958	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcccgacctcaggggcagcGtttggggcataggacagtgg	7	6	18	10	2	1	0	1	0	0	0	1	2	1	1	2	7	1	3	2	7	1	2			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr1:24447958G>A	uc001biq.2	-	6	1265	c.1062C>T	c.(1060-1062)aaC>aaT	p.N354N	IL22RA1_uc010oeg.1_Silent_p.N286N|IL22RA1_uc009vrb.2_Silent_p.N218N|IL22RA1_uc010oeh.2_Silent_p.N354N	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA.	354						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		CAGGGGCAGCGTTTGGGGCAT	0.607													47	66					0	0	0.870114	0	0	A	24447958	G	A	24447958	2	1	14	1	0	0	0	0	0	0	0	1	7673	1136	40	1		1	IL22RA1	1	24447958	Silent	SNP	G	TCGA-CS-6290-01A-11D-1705-08		24447958	224802663	1	567											
PCSK9	255738	broad.mit.edu	37	chr1	55523126	55523126	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacatcattggtgcctccagCgactgcagcacctgctttgt	7	11	10	13	1	1	0	1	0	0	0	2	2	2	0	3	1	5	3	3	1	0	2	rs139683719		TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr1:55523126C>T	uc001cyf.2	+	6	1481	c.1119C>T	c.(1117-1119)agC>agT	p.S373S	PCSK9_uc010oom.2_Non-coding_Transcript	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	373	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GTGCCTCCAGCGACTGCAGCA	0.617													7	25					0	0	0.27861	0	0	T	55523126	C	T	55523126	2	4	14	1	0	0	0	0	0	0	0	1	11606	767	27	1		1	PCSK9	1	55523126	Silent	SNP	C	TCGA-CS-6290-01A-11D-1705-08	31075168	55523126	193727495	2	568											
AMPD2	271	broad.mit.edu	37	chr1	110170831	110170831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggccgtgaacagacgctgCgggaggtctttgagagcatg	9	7	17	8	3	1	3	0	2	1	2	1	5	1	4	1	3	3	2	1	3	1	1			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr1:110170831C>T	uc009wfh.1	+	10	1911	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W	AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Missense_Mutation_p.R376W|AMPD2_uc001dyc.1_Missense_Mutation_p.R457W|AMPD2_uc010ovr.1_Missense_Mutation_p.R382W|AMPD2_uc010ovs.1_Missense_Mutation_p.R339W|AMPD2_uc001dyd.1_Missense_Mutation_p.R338W|AMPD2_uc001dye.1_5'Flank	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	457					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		ACAGACGCTGCGGGAGGTCTT	0.602													12	19					0	0	0.435327	0	0	T	110170831	C	T	110170831	3	4	14	1	0	0	0	0	1	0	0	0	586	759	27	1	1448	1	AMPD2	1	110170831	Missense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08	54647705	110170831	139079790	3	569											
CR2	1380	broad.mit.edu	37	chr1	207648381	207648381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacgatctcctcctgtgactCgctgccctaatccagaagtc	8	11	7	15	2	1	2	0	1	1	1	6	3	3	2	4	0	2	1	4	0	3	2			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr1:207648381C>T	uc001hfw.3	+	12	2478	c.2359C>T	c.(2359-2361)Cgc>Tgc	p.R787C	CR2_uc001hfv.3_Missense_Mutation_p.R846C|CR2_uc009xch.3_Missense_Mutation_p.R787C	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	787	Sushi 13.			PPVTR -> L (in Ref. 3; AAA35784).	complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.R846S(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TCCTGTGACTCGCTGCCCTAA	0.463													28	78					0	0	0.706142	0	0	T	207648381	C	T	207648381	3	4	14	1	0	0	0	0	1	0	0	0	3842	884	31	2	2590	2	CR2	1	207648381	Missense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08	97477550	207648381	41602240	4	570											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								17	60					0	0	0.520397	0	0	T	209113112	C	T	209113112	3	4	14	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08		209113112	34086261	5	571											
FOXP1	27086	broad.mit.edu	37	chr3	71096104	71096104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacgcataccttgagcaagaGgttgaaggggaagggcaggc	13	5	16	7	1	0	3	0	2	0	1	0	4	0	4	1	5	3	4	1	5	5	3			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr3:71096104G>A	uc003dol.3	-	5	976	c.653C>T	c.(652-654)cCt>cTt	p.P218L	FOXP1_uc003dom.3_Missense_Mutation_p.P142L|FOXP1_uc003don.3_Non-coding_Transcript|FOXP1_uc021xan.1_Missense_Mutation_p.P218L|FOXP1_uc003doo.3_Missense_Mutation_p.P218L|FOXP1_uc003dop.3_Missense_Mutation_p.P218L|FOXP1_uc021xao.1_Missense_Mutation_p.P218L|FOXP1_uc003doq.1_Missense_Mutation_p.P217L|FOXP1_uc003doi.3_Missense_Mutation_p.P118L|FOXP1_uc003dok.3_Missense_Mutation_p.P144L|FOXP1_uc003doj.3_Missense_Mutation_p.P220L	NM_001244814	NP_001231743	Q9H334	FOXP1_HUMAN	Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA.	218	Gln-rich.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TTGAGCAAGAGGTTGAAGGGG	0.502			T	PAX5	ALL								18	281					0	0	0.520397	0	0	A	71096104	G	A	71096104	3	1	14	1	0	0	0	0	1	0	0	0	6026	1000	35	3	1428	3	FOXP1	3	71096104	Missense_Mutation	SNP	G	TCGA-CS-6290-01A-11D-1705-08		71096104	126926326	6	572											
NFKBIZ	64332	broad.mit.edu	37	chr3	101576203	101576203	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggttgacacaattagatgCtgtccgcctgttgatgagga	9	12	12	8	2	0	4	0	3	0	1	2	5	1	5	2	2	1	3	2	2	2	3			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr3:101576203C>A	uc003dvp.3	+	10	2118	c.2003C>A	c.(2002-2004)gCt>gAt	p.A668D	NFKBIZ_uc003dvo.3_Missense_Mutation_p.A568D|NFKBIZ_uc010hpo.3_Missense_Mutation_p.A568D|NFKBIZ_uc003dvq.3_Missense_Mutation_p.A546D	NM_031419	NP_001005474	Q9BYH8	IKBZ_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta (NFKBIZ), transcript variant 1, mRNA.	668	Interaction with NFKB1/p50 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CAATTAGATGCTGTCCGCCTG	0.502													5	59					0.014758	0.0155347	0.184627	1	0	A	101576203	C	A	101576203	3	1	14	1	0	0	0	0	1	0	0	0	10383	797	28	5	2045	5	NFKBIZ	3	101576203	Missense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08	30480099	101576203	96446227	7	573											
SLC33A1	9197	broad.mit.edu	37	chr3	155571395	155571395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaagttcttaacgtagaccGcatcaaccaacggggcccag	12	6	10	13	4	2	1	1	0	1	1	2	2	2	1	3	2	3	3	3	2	5	3			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr3:155571395G>A	uc003fan.4	-	0	854	c.392C>T	c.(391-393)gCg>gTg	p.A131V	SLC33A1_uc003fao.2_Missense_Mutation_p.A131V	NM_001190992	NP_004724	O00400	ACATN_HUMAN	Homo sapiens solute carrier family 33 (acetyl-CoA transporter), member 1 (SLC33A1), transcript variant 2, mRNA.	131					cell death|transmembrane transport	Golgi membrane|endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AACGTAGACCGCATCAACCAA	0.438													3	43					0	0	0.115264	0	0	A	155571395	G	A	155571395	3	1	14	1	0	0	0	0	1	0	0	0	14566	1087	38	1	1281	1	SLC33A1	3	155571395	Missense_Mutation	SNP	G	TCGA-CS-6290-01A-11D-1705-08	53995192	155571395	42451035	8	574											
C3orf70	285382	broad.mit.edu	37	chr3	184870438	184870438	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacaccatcctaggtgacaGcaccagtgcagcttgaagca	12	7	10	12	0	0	3	0	3	0	0	1	3	1	3	3	1	4	4	3	1	2	2			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr3:184870438G>A	uc003fpd.3	-	0	365	c.174C>T	c.(172-174)tgC>tgT	p.C58C		NM_001025266	NP_001020437	A6NLC5	CC070_HUMAN	Homo sapiens chromosome 3 open reading frame 70 (C3orf70), mRNA.	58										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						CTAGGTGACAGCACCAGTGCA	0.692													2	6					0	0	0.115264	0	0	A	184870438	G	A	184870438	2	1	14	1	0	0	0	0	0	0	0	1	2242	963	34	3		3	C3orf70	3	184870438	Silent	SNP	G	TCGA-CS-6290-01A-11D-1705-08	29299043	184870438	13151992	9	575											
ARHGEF38	54848	broad.mit.edu	37	chr4	106474027	106474027	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagagaaggaagactgaCactgtggttgagagcagtgt	12	8	16	5	0	0	4	0	2	0	3	0	8	0	6	0	3	1	2	0	3	2	1			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr4:106474027C>A	uc003hxv.2	+	0	251	c.105C>A	c.(103-105)gaC>gaA	p.D35E	ARHGEF38_uc003hxu.3_Missense_Mutation_p.D35E	NM_001242729	NP_001229658	Q9NXL2	ARH38_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 38 (ARHGEF38), transcript variant 1, mRNA.	35					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						GGAAGACTGACACTGTGGTTG	0.468													3	41					0.115264	0.118219	0.115264	1	0	A	106474027	C	A	106474027	3	1	14	1	0	0	0	0	1	0	0	0	907	477	17	5	107	5	ARHGEF38	4	106474027	Missense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08		106474027	84680249	10	576											
TDO2	6999	broad.mit.edu	37	chr4	156831281	156831281	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcccttataacagaagacAttatcgtgataacttcaaag	16	11	6	8	1	1	3	1	1	0	2	3	3	2	3	1	0	2	0	1	0	6	5			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr4:156831281A>T	uc003ipf.1	+	5	600	c.536A>T	c.(535-537)cAt>cTt	p.H179L		NM_005651	NP_005642	P48775	T23O_HUMAN	Homo sapiens tryptophan 2,3-dioxygenase (TDO2), mRNA.	179					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	AACAGAAGACATTATCGTGAT	0.373													11	128					0	0	0.411799	0	0	T	156831281	A	T	156831281	3	4	14	1	0	0	0	0	1	0	0	0	15724	217	8	5	558	5	TDO2	4	156831281	Missense_Mutation	SNP	A	TCGA-CS-6290-01A-11D-1705-08	50357254	156831281	34322995	11	577											
ACSL1	2180	broad.mit.edu	37	chr4	185679015	185679015	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacgacccttcaaatcctctCttttgggcccaggaacataa	12	10	6	13	1	2	0	1	0	1	0	4	2	3	1	3	2	2	0	3	2	4	4			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr4:185679015C>G	uc003iww.2	-	18	2136	c.1842G>C	c.(1840-1842)aaG>aaC	p.K614N	ACSL1_uc011ckm.1_Missense_Mutation_p.K443N|ACSL1_uc003iwt.1_Missense_Mutation_p.K614N|ACSL1_uc003iwu.1_Missense_Mutation_p.K614N|ACSL1_uc011ckn.1_Missense_Mutation_p.K580N|ACSL1_uc003iws.1_Missense_Mutation_p.K174N	NM_001995	NP_001986	P33121	ACSL1_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 1 (ACSL1), mRNA.	614					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CAAATCCTCTCTTTTGGGCCC	0.408													6	127					0	0	0.307466	0	0	G	185679015	C	G	185679015	3	3	14	1	0	0	0	0	1	0	0	0	177	912	32	5	266	5	ACSL1	4	185679015	Missense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08	28847734	185679015	5475261	12	578											
OR2B6	26212	broad.mit.edu	37	chr6	27925799	27925799	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagccgtctctgtgtacctgCaaccaccttcgcccagctcc	6	9	7	19	2	1	0	0	0	1	0	4	0	2	0	6	0	5	3	6	0	2	2			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr6:27925799C>T	uc011dkx.2	+	0	781	c.781C>T	c.(781-783)Caa>Taa	p.Q261*		NM_012367	NP_036499	P58173	OR2B6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 6 (OR2B6), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGTGTACCTGCAACCACCTTC	0.448													24	119					0	0	0.639603	0	0	T	27925799	C	T	27925799	4	4	14	1	0	0	0	0	0	1	0	0	10991	711	25	3	783	3	OR2B6	6	27925799	Nonsense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08		27925799	143189268	13	579											
HSPA1L	3305	broad.mit.edu	37	chr6	31778479	31778479	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaaaatctgtgtctgcttgGtggggatggtggagttgcgc	6	13	17	5	1	2	1	0	1	2	0	2	3	2	3	0	5	2	2	0	5	2	2			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr6:31778479G>T	uc003nxh.3	-	1	1454	c.1271C>A	c.(1270-1272)aCc>aAc	p.T424N	HSPA1L_uc010jte.3_Missense_Mutation_p.T424N|HSPA1L_uc021yuz.1_Missense_Mutation_p.T424N	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	424				T -> P (in Ref. 1; AAA63228).	response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TGTCTGCTTGGTGGGGATGGT	0.602													15	116					2.23348e-06	2.62763e-06	0.500413	1	0	T	31778479	G	T	31778479	3	4	14	1	0	0	0	0	1	0	0	0	7410	1261	44	5	658	5	HSPA1L	6	31778479	Missense_Mutation	SNP	G	TCGA-CS-6290-01A-11D-1705-08	3852680	31778479	139336588	14	580											
LGSN	51557	broad.mit.edu	37	chr6	63990534	63990534	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaaatccctgaatcacaaaAtccagtctcaatgaagaagc	18	7	5	11	0	2	3	2	2	1	1	5	3	4	3	2	0	1	0	2	0	8	0			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr6:63990534A>G	uc003peh.3	-	3	956	c.922T>C	c.(922-924)Ttt>Ctt	p.F308L	LGSN_uc003pei.3_Intron	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	308					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	GAATCACAAAATCCAGTCTCA	0.428													10	50					0	0	0.361761	0	0	G	63990534	A	G	63990534	3	3	14	1	0	0	0	0	1	0	0	0	8759	101	4	3	611	3	LGSN	6	63990534	Missense_Mutation	SNP	A	TCGA-CS-6290-01A-11D-1705-08	32212055	63990534	107124533	15	581											
ATRNL1	26033	broad.mit.edu	37	chr10	117061534	117061534	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tatggacaatgtctagagtgGcaaactgccacctgctcccg	10	9	10	12	1	1	1	0	0	1	1	2	2	2	2	3	2	3	2	3	2	4	2			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr10:117061534G>A	uc001lcg.3	+	16	3185	c.2799G>A	c.(2797-2799)tgG>tgA	p.W933*	ATRNL1_uc010qsm.2_Nonsense_Mutation_p.W108*|ATRNL1_uc010qsn.2_Non-coding_Transcript	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	933	PSI 4.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GTCTAGAGTGGCAAACTGCCA	0.388													4	120					0	0	0.150653	0	0	A	117061534	G	A	117061534	4	1	14	1	0	0	0	0	0	1	0	0	1207	1212	42	3	2865	3	ATRNL1	10	117061534	Nonsense_Mutation	SNP	G	TCGA-CS-6290-01A-11D-1705-08		117061534	18473213	16	582											
OR5AN1	390195	broad.mit.edu	37	chr11	59132638	59132638	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacttcagctaaaggcaggtCcaaggcattcaacacctgtg	12	8	9	12	0	2	0	2	0	0	0	3	0	3	0	2	3	2	3	2	3	4	3			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr11:59132638C>A	uc010rks.2	+	0	707	c.707C>A	c.(706-708)tCc>tAc	p.S236Y		NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AN, member 1 (OR5AN1), mRNA.	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S236S(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						AAAGGCAGGTCCAAGGCATTC	0.423													9	187					0.000673444	0.000748271	0.361761	1	0	A	59132638	C	A	59132638	3	1	14	1	0	0	0	0	1	0	0	0	11143	855	30	5	709	5	OR5AN1	11	59132638	Missense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08		59132638	75873878	17	583											
OVCH1	341350	broad.mit.edu	37	chr12	29618094	29618094	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tttcacctgctctgttgattCcttcaggtttctgtcatggt	4	19	8	10	0	5	1	3	1	2	0	6	1	6	1	2	2	1	3	2	2	0	5			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr12:29618094C>G	uc001rix.1	-	16	1915	c.1915G>C	c.(1915-1917)Gaa>Caa	p.E639Q		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	639	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TCTGTTGATTCCTTCAGGTTT	0.378													2	5					0	0	0.115264	0	0	G	29618094	C	G	29618094	3	3	14	1	0	0	0	0	1	0	0	0	11323	864	30	5	1537	5	OVCH1	12	29618094	Missense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08		29618094	104233801	18	584											
OAS2	4939	broad.mit.edu	37	chr12	113447044	113447044	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aataccaccttggaaagtgcCggtaaaagtcatctaaagga	16	8	9	8	1	2	0	1	0	1	0	2	2	2	2	3	3	2	1	3	3	7	4	rs147522268	byFrequency	TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr12:113447044C>T	uc001tuj.3	+	10	2189	c.2049_splice	c.e10+1	p.P683_splice	OAS2_uc001tui.1_Missense_Mutation_p.P683L	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	683	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TGGAAAGTGCCGGTAAAAGTC	0.458													11	255					0	0	0.411799	0	0	T	113447044	C	T	113447044	5	4	14	1	0	0	0	0	0	0	1	0	10800	666	23	2	2157	2	OAS2	12	113447044	Splice_Site	SNP	C	TCGA-CS-6290-01A-11D-1705-08	83828950	113447044	20404851	19	585											
MYH7	4625	broad.mit.edu	37	chr14	23898270	23898270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccatccagttgaacatcCtctcatacactgccttggcc	9	11	5	16	0	2	1	2	1	1	0	5	1	4	1	5	1	3	1	5	1	2	3			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr14:23898270C>T	uc001wjx.3	-	13	1407	c.1301G>A	c.(1300-1302)aGg>aAg	p.R434K		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	434	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTTGAACATCCTCTCATACAC	0.542													3	88					0	0	0.150653	0	0	T	23898270	C	T	23898270	3	4	14	1	0	0	0	0	1	0	0	0	10039	681	24	3	4614	3	MYH7	14	23898270	Missense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08		23898270	83451270	20	586											
TRIP4	9325	broad.mit.edu	37	chr15	64716294	64716294	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatagcagccacagctaaaAaaccctcccctcaagaagtc	15	5	7	14	0	1	1	1	0	0	1	3	2	2	2	4	1	4	2	4	1	6	2			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr15:64716294A>T	uc002anm.3	+	9	1483	c.1423A>T	c.(1423-1425)Aaa>Taa	p.K475*		NM_016213	NP_057297	Q15650	TRIP4_HUMAN	Homo sapiens thyroid hormone receptor interactor 4 (TRIP4), mRNA.	475					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						CACAGCTAAAAAACCCTCCCC	0.448													21	43					0	0	0.575678	0	0	T	64716294	A	T	64716294	4	4	14	1	0	0	0	0	0	1	0	0	16555	15	1	5	1461	5	TRIP4	15	64716294	Nonsense_Mutation	SNP	A	TCGA-CS-6290-01A-11D-1705-08		64716294	37815098	21	587											
TP53	7157	broad.mit.edu	37	chr17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctatctgagcagcgctcaTggtgggggcagcgcctcaca	7	7	14	13	3	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	1	1			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr17:7578394T>C	uc002gim.2	-	4	730	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_uc002gig.1_Missense_Mutation_p.H179R|TP53_uc002gih.3_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.2_Missense_Mutation_p.H140R	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(214)|p.H179Y(90)|p.H179L(78)|p.H179Q(19)|p.P177_C182delPHHERC(16)|p.H178fs*69(15)|p.H179N(14)|p.H179D(11)|p.H178Y(8)|p.0?(8)|p.C176_R181delCPHHER(6)|p.H179P(6)|p.H178fs*3(6)|p.H178P(6)|p.R175_E180delRCPHHE(6)|p.H178Q(5)|p.H178D(5)|p.H178_S183delHHERCS(4)|p.H47L(4)|p.H86L(4)|p.H179fs*68(3)|p.R174fs*24(3)|p.H178N(3)|p.P177_H179delPHH(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.H86R(2)|p.H178fs*6(2)|p.P177_E180delPHHE(2)|p.H47R(2)|p.R174fs*1(2)|p.H178H(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.H179fs*?(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.H179del(1)|p.H178L(1)|p.R175_H178>X(1)|p.P177_C182del(1)|p.R81fs*24(1)|p.H178del(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(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)		GCAGCGCTCATGGTGGGGGCA	0.642		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)			26	18					0	0	0.693898	0	0	C	7578394	T	C	7578394	3	2	14	1	0	0	0	0	1	0	0	0	16378	1464	51	3	762	3	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-CS-6290-01A-11D-1705-08		7578394	73616816	22	588											
MYH2	4620	broad.mit.edu	37	chr17	10432154	10432154	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acactatctgcatgcttcttCctcagggtggccgctgtggc	5	12	11	13	1	3	0	1	0	2	0	4	0	4	0	2	3	2	3	2	3	1	3			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr17:10432154C>G	uc010coi.3	-	26	3725	c.3597G>C	c.(3595-3597)agG>agC	p.R1199S	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R1199S|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1199					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CATGCTTCTTCCTCAGGGTGG	0.552													5	88					0	0	0.184627	0	0	G	10432154	C	G	10432154	3	3	14	1	0	0	0	0	1	0	0	0	10035	854	30	5	2284	5	MYH2	17	10432154	Missense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08	2853760	10432154	70763056	23	589											
UNC45B	146862	broad.mit.edu	37	chr17	33475300	33475300	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagatggcagaggtggaagcGgtacagctgaaggaggaagg	13	4	19	5	1	0	3	0	1	0	2	0	6	0	6	0	7	3	3	0	7	4	1			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr17:33475300G>A	uc002hja.3	+	1	115	c.18G>A	c.(16-18)gcG>gcA	p.A6A	UNC45B_uc002hjb.3_Silent_p.A6A|UNC45B_uc002hjc.3_Silent_p.A6A|UNC45B_uc010cto.3_Silent_p.A6A	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	6					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				AGGTGGAAGCGGTACAGCTGA	0.612													15	32					0	0	0.500413	0	0	A	33475300	G	A	33475300	2	1	14	1	0	0	0	0	0	0	0	1	16986	1103	39	2		2	UNC45B	17	33475300	Silent	SNP	G	TCGA-CS-6290-01A-11D-1705-08	23043146	33475300	47719910	24	590											
XAB2	56949	broad.mit.edu	37	chr19	7686177	7686177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaacagcgagatgccgcgctCgtacgcctgttaccagaggg	9	6	14	12	5	0	2	0	0	0	2	1	4	0	2	3	1	5	3	3	1	3	2			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr19:7686177C>T	uc002mgx.3	-	12	1650	c.1624G>A	c.(1624-1626)Gag>Aag	p.E542K		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	Homo sapiens XPA binding protein 2 (XAB2), mRNA.	542					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						ATGCCGCGCTCGTACGCCTGT	0.607								Direct reversal of damage;Nucleotide excision repair (NER)					11	35					0	0	0.38729	0	0	T	7686177	C	T	7686177	3	4	14	1	0	0	0	0	1	0	0	0	17415	893	31	2	971	2	XAB2	19	7686177	Missense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08		7686177	51442806	25	591											
PIH1D1	55011	broad.mit.edu	37	chr19	49954795	49954795	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaccgatcgcctccgcctCgcttagccccattcccagca	7	7	7	20	4	0	0	0	0	0	0	4	1	2	0	7	0	3	3	7	0	1	2			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr19:49954795C>A	uc002pns.2	-	0	321	c.37G>T	c.(37-39)Gag>Tag	p.E13*	PIH1D1_uc010yap.2_Nonsense_Mutation_p.E13*|PIH1D1_uc010yaq.2_Nonsense_Mutation_p.E13*|ALDH16A1_uc002pnt.3_5'Flank|ALDH16A1_uc010yar.2_5'Flank|ALDH16A1_uc010yas.2_5'Flank|ALDH16A1_uc010yat.2_5'Flank	NM_017916	NP_060386	Q9NWS0	PIHD1_HUMAN	Homo sapiens PIH1 domain containing 1 (PIH1D1), mRNA.	13					box C/D snoRNP assembly	pre-snoRNP complex				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GCCTCCGCCTCGCTTAGCCCC	0.607													7	34					0.00400662	0.00433149	0.500413	1	0	A	49954795	C	A	49954795	4	1	14	1	0	0	0	0	0	1	0	0	11906	893	31	5	871	5	PIH1D1	19	49954795	Nonsense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08	42268618	49954795	9174188	26	592											
JAG1	182	broad.mit.edu	37	chr20	10622192	10622192	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagaggtgcactttgtcttCaccggctggagactggaaga	9	10	13	9	1	3	3	2	0	1	3	3	5	3	4	1	4	1	2	1	4	1	2			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr20:10622192C>T	uc002wnw.2	-	22	3348	c.2832G>A	c.(2830-2832)gtG>gtA	p.V944V	JAG1_uc010gcd.1_Silent_p.V502V	NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	944					Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ACTTTGTCTTCACCGGCTGGA	0.537									Alagille Syndrome				5	160					0	0	0.217242	0	0	T	10622192	C	T	10622192	2	4	14	1	0	0	0	0	0	0	0	1	7934	813	29	3		3	JAG1	20	10622192	Silent	SNP	C	TCGA-CS-6290-01A-11D-1705-08		10622192	52403328	27	593											
CSRP2BP	57325	broad.mit.edu	37	chr20	18139760	18139760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctggtggagcaccgtggCaggttgcctcagcgtgggaa	7	8	16	10	2	1	0	1	0	0	0	1	2	1	2	3	5	4	3	3	5	2	2			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr20:18139760C>T	uc021wbb.1	+	3	970	c.533C>T	c.(532-534)gCa>gTa	p.A178V	CSRP2BP_uc002wqk.3_Missense_Mutation_p.A50V|CSRP2BP_uc010zru.2_Missense_Mutation_p.A50V	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA.	178					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						AGCACCGTGGCAGGTTGCCTC	0.468													13	34					0	0	0.539581	0	0	T	18139760	C	T	18139760	3	4	14	1	0	0	0	0	1	0	0	0	3968	710	25	3	547	3	CSRP2BP	20	18139760	Missense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08	7517568	18139760	44885760	28	594											
AJAP1	55966	broad.mit.edu	37	chr1	4832380	4832380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtcggaacagccaccagCggaagaccaaccagcaggag	13	2	12	14	3	0	1	0	0	0	1	2	4	0	4	4	3	5	1	4	3	3	0			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:4832380C>T	uc001alm.1	+	3	1339	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	AJAP1_uc001aln.3_Missense_Mutation_p.R320W	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	320	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CAGCCACCAGCGGAAGACCAA	0.607													10	60					0	0	0.008291	0	0	T	4832380	C	T	4832380	3	4	15	1	0	0	0	0	1	0	0	0	438	759	27	1	972	1	AJAP1	1	4832380	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08		4832380	244418241	1	595											
CAMTA1	23261	broad.mit.edu	37	chr1	7796570	7796570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggccgctgcccagggctatgCcaccctaatccagaccctca	8	6	9	18	1	1	1	1	0	0	1	2	1	2	1	6	2	2	2	6	2	2	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:7796570C>T	uc001aoi.3	+	12	3440	c.3233C>T	c.(3232-3234)gCc>gTc	p.A1078V	CAMTA1_uc010nzv.1_Missense_Mutation_p.A165V|CAMTA1_uc001aok.4_Missense_Mutation_p.A121V|CAMTA1_uc001aoj.3_Missense_Mutation_p.A34V	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	1078					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CAGGGCTATGCCACCCTAATC	0.592			T	WWTR1	epitheliod hemangioendothelioma								4	97					0	0	0.014758	0	0	T	7796570	C	T	7796570	3	4	15	1	0	0	0	0	1	0	0	0	2613	739	26	3	3283	3	CAMTA1	1	7796570	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	2964190	7796570	241454051	2	596											
CLSTN1	22883	broad.mit.edu	37	chr1	9794036	9794036	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcgctccccttacctgtgaAggtcatgcccagttcagagc	8	9	10	14	1	2	2	2	1	0	1	3	2	3	2	4	1	4	2	4	1	2	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:9794036A>C	uc001aqh.3	-	14	3034	c.2275T>G	c.(2275-2277)Ttc>Gtc	p.F759V	CLSTN1_uc001aqi.3_Missense_Mutation_p.F749V|CLSTN1_uc010oag.2_Missense_Mutation_p.F740V|CLSTN1_uc001aqf.3_5'Flank	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	Homo sapiens calsyntenin 1 (CLSTN1), transcript variant 1, mRNA.	759					homophilic cell adhesion	Golgi membrane|cell junction|cell projection|endoplasmic reticulum membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TTACCTGTGAAGGTCATGCCC	0.612													16	78					0	0	0.007413	0	0	C	9794036	A	C	9794036	3	2	15	1	0	0	0	0	1	0	0	0	3561	72	3	5	690	5	CLSTN1	1	9794036	Missense_Mutation	SNP	A	TCGA-CS-6665-01A-11D-1893-08	1997466	9794036	239456585	3	597											
SEP15	9403	broad.mit.edu	37	chr1	87369113	87369113	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgcctccgatgaaaactCtgccccaaaagcagacacct	13	6	7	15	1	1	2	0	1	1	1	2	3	2	2	5	0	4	2	5	0	4	0			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:87369113C>A	uc021oph.1	-	1	416	c.103G>T	c.(103-105)Gag>Tag	p.E35*	SEP15_uc021opi.1_Nonsense_Mutation_p.E35*	NM_004261		O60613	SEP15_HUMAN	Homo sapiens 15 kDa selenoprotein (SEP15), transcript variant 1, mRNA.	32					'de novo' posttranslational protein folding	endoplasmic reticulum lumen	selenium binding						Lung NSC(277;0.153)		all cancers(265;0.00744)|Epithelial(280;0.0333)		GATGAAAACTCTGCCCCAAAA	0.418													11	19					2.68362e-12	4.13725e-12	0.013537	1	0	A	87369113	C	A	87369113	4	1	15	1	0	0	0	0	0	1	0	0	14053	922	32	5	410	5	SEP15	1	87369113	Nonsense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	77575077	87369113	161881508	4	598											
SPRR2G	6706	broad.mit.edu	37	chr1	153122438	153122438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagggcatttatcctggcatGgtggaggtgggcaatgctca	8	10	16	7	0	1	0	1	0	0	0	2	2	2	1	1	6	1	4	1	6	2	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:153122438G>A	uc021ozu.1	-	0	149	c.149C>T	c.(148-150)cCa>cTa	p.P50L	SPRR2G_uc009wod.2_Missense_Mutation_p.P50L	NM_001014291	NP_001014313	Q9BYE4	SPR2G_HUMAN	Homo sapiens small proline-rich protein 2G (SPRR2G), mRNA.	50					keratinization	cornified envelope|cytoplasm				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATCCTGGCATGGTGGAGGTGG	0.567													23	111					0	0	0.016522	0	0	A	153122438	G	A	153122438	3	1	15	1	0	0	0	0	1	0	0	0	15101	1348	47	3	76	3	SPRR2G	1	153122438	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	65753325	153122438	96128183	5	599											
ADAR	103	broad.mit.edu	37	chr1	154560602	154560602	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggggcatgtatcactcaccGttctccaccttggtgcggag	6	10	13	12	2	3	0	2	0	1	0	4	1	3	1	3	4	1	3	3	4	1	3	rs151241634	byFrequency	TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:154560602G>A	uc001ffh.3	-	11	3261	c.3019_splice	c.e11+1	p.G1007_splice	ADAR_uc021pag.1_Splice_Site_p.G712_splice|ADAR_uc001ffj.3_Splice_Site_p.G962_splice|ADAR_uc001ffi.3_Splice_Site_p.G981_splice|ADAR_uc001ffk.3_Splice_Site_p.G712_splice	NM_001111	NP_001180424	P55265	DSRAD_HUMAN	Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA.	1007	A to I editase.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		ATCACTCACCGTTCTCCACCT	0.537													10	402					0	0	0.008291	0	0	A	154560602	G	A	154560602	5	1	15	1	0	0	0	0	0	0	1	0	281	1159	40	1	682	1	ADAR	1	154560602	Splice_Site	SNP	G	TCGA-CS-6665-01A-11D-1893-08	1438164	154560602	94690019	6	600											
CD244	51744	broad.mit.edu	37	chr1	160811431	160811431	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccagatatactggtgacctCcaggcagtagaggccactgt	10	9	11	11	0	0	3	0	1	0	2	2	3	2	3	4	3	1	2	4	3	3	3			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:160811431C>A	uc009wtq.3	-	1	547	c.322G>T	c.(322-324)Gag>Tag	p.E108*	CD244_uc001fxa.3_Nonsense_Mutation_p.E108*|CD244_uc009wtr.3_Nonsense_Mutation_p.E108*|CD244_uc009wtp.3_Non-coding_Transcript|CD244_uc010pjt.2_Non-coding_Transcript	NM_001166663	NP_001160135	Q9BZW8	CD244_HUMAN	Homo sapiens CD244 molecule, natural killer cell receptor 2B4 (CD244), transcript variant 2, mRNA.	108	Ig-like 1.				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTGGTGACCTCCAGGCAGTAG	0.453													22	90					4.26978e-12	6.51471e-12	0.01892	1	0	A	160811431	C	A	160811431	4	1	15	1	0	0	0	0	0	1	0	0	2987	864	30	5	822	5	CD244	1	160811431	Nonsense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	6250829	160811431	88439190	7	601											
RXRG	6258	broad.mit.edu	37	chr1	165398112	165398112	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtggggcactcactggggtAtctgtgtagctggggtggct	4	11	18	8	1	2	0	1	0	1	0	2	0	2	0	0	7	1	5	0	7	2	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:165398112A>C	uc001gda.3	-	1	603	c.141T>G	c.(139-141)gaT>gaG	p.D47E	RXRG_uc021pea.1_5'UTR	NM_006917	NP_008848	P48443	RXRG_HUMAN	Homo sapiens retinoid X receptor, gamma (RXRG), transcript variant 1, mRNA.	47	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	TCACTGGGGTATCTGTGTAGC	0.607													5	63					0	0	0.014758	0	0	C	165398112	A	C	165398112	3	2	15	1	0	0	0	0	1	0	0	0	13765	446	16	5	1286	5	RXRG	1	165398112	Missense_Mutation	SNP	A	TCGA-CS-6665-01A-11D-1893-08	4586681	165398112	83852509	8	602											
SELE	6401	broad.mit.edu	37	chr1	169697059	169697059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctggtggacagcatcgCatctcacagctggaacacac	10	6	13	12	1	1	0	1	0	1	0	3	2	1	2	0	5	3	4	0	5	1	0			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:169697059C>T	uc001ggm.4	-	8	1446	c.1289G>A	c.(1288-1290)tGc>tAc	p.C430Y	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	430	Sushi 5.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GACAGCATCGCATCTCACAGC	0.498													29	121					0	0	0.010818	0	0	T	169697059	C	T	169697059	3	4	15	1	0	0	0	0	1	0	0	0	14013	710	25	3	563	3	SELE	1	169697059	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	4298947	169697059	79553562	9	603											
EDEM3	80267	broad.mit.edu	37	chr1	184695449	184695449	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcaaggatcaaggtaccTgcacaagctgtacaggtatc	14	9	9	9	0	2	0	2	0	0	0	3	1	2	1	1	3	4	5	1	3	7	4			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:184695449T>C	uc010pom.2	-	6	948	c.687A>G	c.(685-687)gcA>gcG	p.A229A	EDEM3_uc010pok.2_Silent_p.A229A|EDEM3_uc010pol.2_Non-coding_Transcript|EDEM3_uc001gqy.3_Silent_p.A152A	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 3 (EDEM3), mRNA.	229					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	p.V229M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCAAGGTACCTGCACAAGCTG	0.388													11	57					0	0	0.003163	0	0	C	184695449	T	C	184695449	2	2	15	1	0	0	0	0	0	0	0	1	4913	1567	55	4		4	EDEM3	1	184695449	Silent	SNP	T	TCGA-CS-6665-01A-11D-1893-08	14998390	184695449	64555172	10	604											
OBSCN	84033	broad.mit.edu	37	chr1	228404888	228404888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcaggaggatgtggggaCgcggcaccggctggtggcag	6	6	20	9	3	0	0	0	0	0	0	0	3	0	3	1	8	1	4	1	8	0	1			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:228404888C>T	uc009xez.1	+	7	2596	c.2552C>T	c.(2551-2553)aCg>aTg	p.T851M	OBSCN_uc001hsn.3_Missense_Mutation_p.T851M	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	851	Ig-like 8.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding	p.G850W(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GATGTGGGGACGCGGCACCGG	0.652													14	106					0	0	0.004007	0	0	T	228404888	C	T	228404888	3	4	15	1	0	0	0	0	1	0	0	0	10812	536	19	1	2578	1	OBSCN	1	228404888	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	43709439	228404888	20845733	11	605											
GPR137B	7107	broad.mit.edu	37	chr1	236341829	236341829	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaggttatcgtctctgtgCgagtggccattaatgacacg	9	11	13	8	3	1	1	0	1	1	0	3	3	1	2	1	3	1	1	1	3	3	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:236341829C>T	uc001hxq.3	+	2	671	c.580C>T	c.(580-582)Cga>Tga	p.R194*		NM_003272	NP_003263	O60478	G137B_HUMAN	Homo sapiens G protein-coupled receptor 137B (GPR137B), mRNA.	194						integral to plasma membrane|membrane fraction				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CGTCTCTGTGCGAGTGGCCAT	0.478													58	164					0	0	0.01441	0	0	T	236341829	C	T	236341829	4	4	15	1	0	0	0	0	0	1	0	0	6646	760	27	1	590	1	GPR137B	1	236341829	Nonsense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	7936941	236341829	12908792	12	606											
RYR2	6262	broad.mit.edu	37	chr1	237804239	237804239	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacactatccacatggggaaCgcgatcatgaccttctattc	11	10	8	12	2	2	1	1	1	1	0	4	4	3	2	2	2	1	0	2	2	3	4			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:237804239C>G	uc001hyl.1	+	46	7278	c.7158C>G	c.(7156-7158)aaC>aaG	p.N2386K		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2386	4 X approximate repeats.		N -> I (in ARVD2 and CPVT1).		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.A2385A(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACATGGGGAACGCGATCATGA	0.443													6	39					0	0	0.00308	0	0	G	237804239	C	G	237804239	3	3	15	1	0	0	0	0	1	0	0	0	13769	535	19	5	7344	5	RYR2	1	237804239	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	1462410	237804239	11446382	13	607											
BCL11A	53335	broad.mit.edu	37	chr2	60679728	60679728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcagaacttaagggctctCgagcttccatccgaaaactg	11	10	8	12	2	2	1	1	0	2	1	6	3	4	1	2	1	3	2	2	1	4	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr2:60679728C>T	uc010ypj.2	-	3	2582	c.2354G>A	c.(2353-2355)cGa>cAa	p.R785Q	BCL11A_uc002sab.3_Silent_p.S768S|BCL11A_uc002sac.3_Missense_Mutation_p.R235Q|BCL11A_uc010ypi.2_Silent_p.S437S	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	0					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TAAGGGCTCTCGAGCTTCCAT	0.557			T	IGH@	B-CLL								34	105					0	0	0.017118	0	0	T	60679728	C	T	60679728	3	4	15	1	0	0	0	0	1	0	0	0	1363	884	31	2	31	2	BCL11A	2	60679728	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08		60679728	182519645	14	608											
RND3	390	broad.mit.edu	37	chr2	151326607	151326607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccgctttgtggctctctgtGatttgttccgcttaacgttt	3	19	9	10	3	1	1	0	1	1	0	4	1	3	1	2	1	1	5	2	1	1	5			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr2:151326607G>A	uc002txg.3	-	5	814	c.629C>T	c.(628-630)tCa>tTa	p.S210L	RND3_uc002txe.3_Missense_Mutation_p.S210L|RND3_uc010zbv.2_Intron	NM_005168	NP_005159	P61587	RND3_HUMAN	Homo sapiens Rho family GTPase 3 (RND3), transcript variant 2, mRNA.	210					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		GGCTCTCTGTGATTTGTTCCG	0.458													31	108					0	0	0.010818	0	0	A	151326607	G	A	151326607	3	1	15	1	0	0	0	0	1	0	0	0	13421	1294	45	3	109	3	RND3	2	151326607	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	90646879	151326607	91872766	15	609											
ZDBF2	57683	broad.mit.edu	37	chr2	207169761	207169761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctagtagatattggtcaggCtacaaataatagaagcaact	16	10	8	7	0	1	2	1	0	0	2	1	2	1	2	1	2	3	3	1	2	9	7			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr2:207169761C>T	uc002vbp.2	+	4	759	c.509C>T	c.(508-510)gCt>gTt	p.A170V		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	170							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATTGGTCAGGCTACAAATAAT	0.423													10	36					0	0	0.006214	0	0	T	207169761	C	T	207169761	3	4	15	1	0	0	0	0	1	0	0	0	17596	797	28	3	519	3	ZDBF2	2	207169761	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	55843154	207169761	36029612	16	610											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								15	61					0	0	0.00499	0	0	T	209113112	C	T	209113112	3	4	15	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	1943351	209113112	34086261	17	611											
SP100	6672	broad.mit.edu	37	chr2	231367785	231367785	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcaactttctcaggaagAaaagccaacactagaccttt	14	12	5	10	0	2	2	2	0	1	2	3	3	2	3	2	1	3	0	2	1	6	5			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr2:231367785A>G	uc002vqt.3	+	19	1866	c.1725A>G	c.(1723-1725)agA>agG	p.R575R	SP100_uc002vqs.3_Silent_p.R575R|SP100_uc002vqu.1_Silent_p.R575R|SP100_uc010fxp.1_5'Flank	NM_003113	NP_003104	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA.	575					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of cellular component movement|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	PML body|cytoplasm|nuclear periphery|nucleolus	DNA binding|chromo shadow domain binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCTCAGGAAGAAAAGCCAACA	0.289													18	82					0	0	0.008871	0	0	G	231367785	A	G	231367785	2	3	15	1	0	0	0	0	0	0	0	1	14960	243	9	3		3	SP100	2	231367785	Silent	SNP	A	TCGA-CS-6665-01A-11D-1893-08	22254673	231367785	11831588	18	612											
BSN	8927	broad.mit.edu	37	chr3	49691512	49691512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagagttctctacacagaCgccaagtccagcccctgcct	10	7	8	16	1	1	2	0	0	1	2	3	2	2	2	5	0	4	2	5	0	2	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:49691512C>T	uc003cxe.4	+	4	4637	c.4523C>T	c.(4522-4524)aCg>aTg	p.T1508M		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1508					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCTACACAGACGCCAAGTCCA	0.622													11	67					0	0	0.008291	0	0	T	49691512	C	T	49691512	3	4	15	1	0	0	0	0	1	0	0	0	1530	536	19	1	4541	1	BSN	3	49691512	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08		49691512	148330918	19	613											
BSN	8927	broad.mit.edu	37	chr3	49694614	49694614	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcagacatgtcactgcaaaCggaggagcagtgggaggcca	12	5	14	10	1	2	1	2	0	0	1	2	4	2	4	1	4	3	2	1	4	1	0			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:49694614C>T	uc003cxe.4	+	4	7739	c.7625C>T	c.(7624-7626)aCg>aTg	p.T2542M		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2542					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCACTGCAAACGGAGGAGCAG	0.632													14	40					0	0	0.016723	0	0	T	49694614	C	T	49694614	3	4	15	1	0	0	0	0	1	0	0	0	1530	536	19	1	7643	1	BSN	3	49694614	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	3102	49694614	148327816	20	614											
CISH	1154	broad.mit.edu	37	chr3	50645154	50645154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacaggtgttgcaggctgcGggcactgcttctgcgtacaa	7	9	14	11	2	1	0	0	0	1	0	1	0	1	0	0	3	5	7	0	3	2	3			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:50645154G>A	uc010hlq.3	-	3	999	c.712C>T	c.(712-714)Cgc>Tgc	p.R238C	CISH_uc003dax.3_Missense_Mutation_p.R221C	NM_013324	NP_037456	Q9NSE2	CISH_HUMAN	Homo sapiens cytokine inducible SH2-containing protein (CISH), transcript variant 1, mRNA.	221	SOCS box.				intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth	intracellular				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TGCAGGCTGCGGGCACTGCTT	0.622													23	97					0	0	0.01892	0	0	A	50645154	G	A	50645154	3	1	15	1	0	0	0	0	1	0	0	0	3437	1116	39	2	119	2	CISH	3	50645154	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	950540	50645154	147377276	21	615											
CACNA2D3	55799	broad.mit.edu	37	chr3	54596855	54596855	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attgtcaatggggtttattgGtctgaatctctaaacaaagt	12	15	9	5	0	3	1	1	1	2	0	4	1	3	1	0	3	1	1	0	3	6	5			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:54596855G>T	uc003dhf.3	+	5	621	c.573G>T	c.(571-573)tgG>tgT	p.W191C	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.W97C|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_5'UTR	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	191						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GGGTTTATTGGTCTGAATCTC	0.403													10	38					1.76689e-08	2.58911e-08	0.006214	1	0	T	54596855	G	T	54596855	3	4	15	1	0	0	0	0	1	0	0	0	2550	1270	44	5	595	5	CACNA2D3	3	54596855	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	3951701	54596855	143425575	22	616											
SEL1L3	23231	broad.mit.edu	37	chr4	25849135	25849135	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaatccaggcgcgtactaTcactgcagatacagagatgg	13	8	11	9	2	1	2	1	0	0	2	2	3	2	2	1	2	3	3	1	2	4	4			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:25849135T>C	uc003gru.4	-	1	666	c.514A>G	c.(514-516)Ata>Gta	p.I172V		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	172						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GCGCGTACTATCACTGCAGAT	0.408													9	65					0	0	0.004482	0	0	C	25849135	T	C	25849135	3	2	15	1	0	0	0	0	1	0	0	0	14012	1435	50	3	2976	3	SEL1L3	4	25849135	Missense_Mutation	SNP	T	TCGA-CS-6665-01A-11D-1893-08		25849135	165305141	23	617											
PDGFRA	5156	broad.mit.edu	37	chr4	55151636	55151636	+	Frame_Shift_Del	DEL	T	T	-																															aagttgcccgaggaatggagTttttggcttcaaaaaatgta																										TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:55151636delT	uc003han.4	+	16	2753	c.2422delT	c.(2422-2424)tttfs	p.F808fs	PDGFRA_uc003haa.3_Frame_Shift_Del_p.F568fs	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	808	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.F808L(2)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AGGAATGGAGTTTTTGGCTTC	0.418			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			9	2168	---	---	---	---						-	55151636	T	-	55151636	7	5	15	1	0	1	0	1	0	0	0	0	11661	1725	60	0	2484	0	PDGFRA	4	55151636	Frame_Shift_Del	DEL	T	TCGA-CS-6665-01A-11D-1893-08	29302501	55151636	136002640	24	618											
CLOCK	9575	broad.mit.edu	37	chr4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-																															agctgctgctcctgggagctCtgctgctgctgctgctgcgt																										TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:56304530_56304532delCTG	uc003haz.1	-	22	3204_3206	c.2278_2280delCAG	c.(2278-2280)cagdel	p.Q760del	CLOCK_uc003hba.1_In_Frame_Del_p.Q760del|CLOCK_uc010igu.1_Non-coding_Transcript	NM_004898	NP_004889	O15516	CLOCK_HUMAN	Homo sapiens clock homolog (mouse) (CLOCK), mRNA.	760	Gln-rich.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			cctgggagctctgctgctgctgc	0.512													8	603	---	---	---	---						-	56304532	CTG	-	56304530	7	5	15	1	0	1	0	1	0	0	0	0	3549	912	32	0	268	0	CLOCK	4	56304530	In_Frame_Del	DEL	CTG	TCGA-CS-6665-01A-11D-1893-08	1152894	56304530	134849746	25	619											
ADAMTS3	9508	broad.mit.edu	37	chr4	73188757	73188757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atatcccagcattatcatgcGcaccaggaccacatttatat	13	11	5	12	1	1	0	1	0	0	0	2	1	2	1	3	1	2	2	3	1	4	5			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:73188757G>A	uc003hgk.2	-	5	956	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	307	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATTATCATGCGCACCAGGACC	0.363													7	317					0	0	0.004482	0	0	A	73188757	G	A	73188757	3	1	15	1	0	0	0	0	1	0	0	0	267	1087	38	1	2766	1	ADAMTS3	4	73188757	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	16884227	73188757	117965519	26	620											
SHROOM3	57619	broad.mit.edu	37	chr4	77661578	77661578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcctgccccctcgcaccCgcacacatccagtctgggcc	5	5	9	22	3	1	0	0	0	1	0	3	0	2	0	7	1	1	2	7	1	0	0			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:77661578C>T	uc011cbx.2	+	4	3205	c.2252C>T	c.(2251-2253)cCg>cTg	p.P751L	SHROOM3_uc011cbz.1_Missense_Mutation_p.P575L|SHROOM3_uc003hkf.1_Missense_Mutation_p.P626L|SHROOM3_uc003hkg.3_Missense_Mutation_p.P529L	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	751					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCCTCGCACCCGCACACATCC	0.692													5	32					0	0	0.001168	0	0	T	77661578	C	T	77661578	3	4	15	1	0	0	0	0	1	0	0	0	14295	652	23	2	2270	2	SHROOM3	4	77661578	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	4472821	77661578	113492698	27	621											
FRAS1	80144	broad.mit.edu	37	chr4	79400621	79400621	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctagaatcaggctctgattTtaaatctagagggatgtctg	11	14	10	6	0	5	3	1	1	4	2	5	4	5	4	0	2	0	1	0	2	5	4			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:79400621T>G	uc003hlb.2	+	55	8632	c.8192T>G	c.(8191-8193)tTt>tGt	p.F2731C		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2726	Calx-beta 2.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGCTCTGATTTTAAATCTAGA	0.463													15	39					0	0	0.020292	0	0	G	79400621	T	G	79400621	3	3	15	1	0	0	0	0	1	0	0	0	6042	1841	64	5	8489	5	FRAS1	4	79400621	Missense_Mutation	SNP	T	TCGA-CS-6665-01A-11D-1893-08	1739043	79400621	111753655	28	622											
USP53	54532	broad.mit.edu	37	chr4	120214081	120214081	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagtacacatatgaatgaTgaaagacataaagaaacatt	20	9	8	4	0	0	6	0	4	0	2	0	6	0	6	0	0	2	1	0	0	7	4			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:120214081T>A	uc003ics.4	+	17	4003	c.2937T>A	c.(2935-2937)gaT>gaA	p.D979E	USP53_uc003icr.4_Missense_Mutation_p.D979E|USP53_uc003icu.4_Missense_Mutation_p.D602E	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	Homo sapiens ubiquitin specific peptidase 53 (USP53), mRNA.	979					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ATATGAATGATGAAAGACATA	0.393													9	49					0	0	0.004482	0	0	A	120214081	T	A	120214081	3	1	15	1	0	0	0	0	1	0	0	0	17081	1461	51	5	2995	5	USP53	4	120214081	Missense_Mutation	SNP	T	TCGA-CS-6665-01A-11D-1893-08	40813460	120214081	70940195	29	623											
PRDM5	11107	broad.mit.edu	37	chr4	121698363	121698363	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtgtggctccggatatgaActctgagtgtaccactgctg	7	12	12	10	1	1	2	0	2	1	0	2	3	2	3	2	2	3	3	2	2	3	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:121698363A>C	uc003idn.3	-	12	1767	c.1517T>G	c.(1516-1518)gTt>gGt	p.V506G	PRDM5_uc003ido.3_Missense_Mutation_p.V475G|PRDM5_uc010ine.3_Missense_Mutation_p.V475G	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	Homo sapiens PR domain containing 5 (PRDM5), mRNA.	506					histone H3-K9 methylation|histone deacetylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCGGATATGAACTCTGAGTGT	0.383													32	129					0	0	0.015359	0	0	C	121698363	A	C	121698363	3	2	15	1	0	0	0	0	1	0	0	0	12460	43	2	5	391	5	PRDM5	4	121698363	Missense_Mutation	SNP	A	TCGA-CS-6665-01A-11D-1893-08	1484282	121698363	69455913	30	624											
GMDS	2762	broad.mit.edu	37	chr6	1726688	1726688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacttgagatccacagtcaCgtgaactttgccggtctctt	8	13	9	11	2	2	2	1	2	1	1	4	3	3	2	2	1	3	1	2	1	2	4			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:1726688C>T	uc003mtq.3	-	8	1161	c.949G>A	c.(949-951)Gtg>Atg	p.V317M	GMDS_uc021ykn.1_Missense_Mutation_p.V287M	NM_001500	NP_001491	O60547	GMDS_HUMAN	Homo sapiens GDP-mannose 4,6-dehydratase (GMDS), transcript variant 1, mRNA.	317					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		GDP-mannose 4,6-dehydratase activity|coenzyme binding	p.H316H(1)	GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TCCACAGTCACGTGAACTTTG	0.507													30	160					0	0	0.015359	0	0	T	1726688	C	T	1726688	3	4	15	1	0	0	0	0	1	0	0	0	6486	536	19	1	181	1	GMDS	6	1726688	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08		1726688	169388379	31	625											
TNXB	7148	broad.mit.edu	37	chr6	32049264	32049264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taacctcattctcatcccccGcaacaggcactgcctggggc	8	8	8	17	1	2	0	2	0	1	0	4	0	3	0	4	3	3	2	4	3	2	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:32049264G>A	uc003nzl.2	-	9	4125	c.3923C>T	c.(3922-3924)gCg>gTg	p.A1308V		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1395	Fibronectin type-III 5.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTCATCCCCCGCAACAGGCAC	0.617													4	18					0	0	0.014758	0	0	A	32049264	G	A	32049264	3	1	15	1	0	0	0	0	1	0	0	0	16343	1087	38	1	10930	1	TNXB	6	32049264	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	30322576	32049264	139065803	32	626											
GPR116	221395	broad.mit.edu	37	chr6	46826760	46826760	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccccctgtgttgttggcaagCctgaagttccagaagacaca	10	9	10	12	0	0	3	0	1	0	2	1	3	1	3	4	1	1	4	4	1	3	3			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:46826760C>T	uc003oyo.3	-	16	3169	c.2880G>A	c.(2878-2880)agG>agA	p.R960R	GPR116_uc011dwj.1_Silent_p.R515R|GPR116_uc011dwk.1_Silent_p.R389R|GPR116_uc003oyp.3_Silent_p.R818R|GPR116_uc003oyq.3_Silent_p.R960R|GPR116_uc010jzi.1_Silent_p.R632R	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	960	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TGTTGGCAAGCCTGAAGTTCC	0.478													16	97					0	0	0.004007	0	0	T	46826760	C	T	46826760	2	4	15	1	0	0	0	0	0	0	0	1	6633	738	26	3		3	GPR116	6	46826760	Silent	SNP	C	TCGA-CS-6665-01A-11D-1893-08	14777496	46826760	124288307	33	627											
RIMS1	22999	broad.mit.edu	37	chr6	72889453	72889453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcacgactccaagagcgatCgcggtctcagacacccctaa	12	5	9	15	4	1	2	1	0	1	2	4	4	2	2	3	1	2	1	3	1	2	1			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:72889453C>T	uc003pga.3	+	4	724	c.647C>T	c.(646-648)tCg>tTg	p.S216L	RIMS1_uc011dyb.2_5'Flank|RIMS1_uc003pgc.3_5'Flank|RIMS1_uc003pgb.4_5'Flank	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	216					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CAAGAGCGATCGCGGTCTCAG	0.597													5	150					0	0	0.001168	0	0	T	72889453	C	T	72889453	3	4	15	1	0	0	0	0	1	0	0	0	13367	893	31	2	665	2	RIMS1	6	72889453	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	26062693	72889453	98225614	34	628											
NT5E	4907	broad.mit.edu	37	chr6	86203685	86203685	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagcttttctttaatatttcTttcactttgggcagtgatct	8	20	6	7	0	4	1	1	1	3	0	4	1	4	1	0	1	1	2	0	1	3	8			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:86203685T>C	uc003pko.4	+	8	2244	c.1688T>C	c.(1687-1689)cTt>cCt	p.L563P	NT5E_uc010kbr.3_Missense_Mutation_p.L513P	NM_002526	NP_002517	P21589	5NTD_HUMAN	Homo sapiens 5'-nucleotidase, ecto (CD73) (NT5E), transcript variant 1, mRNA.	563					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	TTAATATTTCTTTCACTTTGG	0.353													12	90					0	0	0.016723	0	0	C	86203685	T	C	86203685	3	2	15	1	0	0	0	0	1	0	0	0	10693	1609	56	4	1722	4	NT5E	6	86203685	Missense_Mutation	SNP	T	TCGA-CS-6665-01A-11D-1893-08	13314232	86203685	84911382	35	629											
HTR1E	3354	broad.mit.edu	37	chr6	87725427	87725427	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaggtactgggccatcacCaatgctattgaatacgccag	12	8	10	11	1	1	1	1	1	0	0	1	2	1	1	3	2	3	2	3	2	5	4			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:87725427C>A	uc003pli.3	+	1	1078	c.375C>A	c.(373-375)acC>acA	p.T125T	HTR1E_uc021zcg.1_Silent_p.T125T	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	125					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GGGCCATCACCAATGCTATTG	0.562													17	127					1.67942e-08	2.48554e-08	0.006122	1	0	A	87725427	C	A	87725427	2	1	15	1	0	0	0	0	0	0	0	1	7439	581	21	5		5	HTR1E	6	87725427	Silent	SNP	C	TCGA-CS-6665-01A-11D-1893-08	1521742	87725427	83389640	36	630											
RNGTT	8732	broad.mit.edu	37	chr6	89563379	89563379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtatttgataaatgcataCgaagatctttacgaaatgga	16	12	9	4	2	1	2	0	1	1	1	1	6	1	3	0	1	3	2	0	1	7	6			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:89563379C>T	uc003pmr.2	-	8	1221	c.1001G>A	c.(1000-1002)cGt>cAt	p.R334H	RNGTT_uc003pms.2_Missense_Mutation_p.R334H|RNGTT_uc011dzu.1_Missense_Mutation_p.R274H|RNGTT_uc003pmt.2_Missense_Mutation_p.R334H	NM_003800	NP_003791	O60942	MCE1_HUMAN	Homo sapiens RNA guanylyltransferase and 5'-phosphatase (RNGTT), mRNA.	334	GTase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TAAATGCATACGAAGATCTTT	0.289													12	90					0	0	0.013537	0	0	T	89563379	C	T	89563379	3	4	15	1	0	0	0	0	1	0	0	0	13503	536	19	1	824	1	RNGTT	6	89563379	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	1837952	89563379	81551688	37	631											
SMPD2	6610	broad.mit.edu	37	chr6	109764076	109764076	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgatgcctatcttgaaactCgggacttcaaggtgaggact	11	11	11	8	1	2	3	1	3	1	0	3	5	2	5	1	3	2	0	1	3	3	3	rs139839878		TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:109764076C>T	uc003pti.3	+	6	1007	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W	PPIL6_uc010kdp.3_5'Flank|PPIL6_uc003ptg.4_5'Flank|PPIL6_uc021zdq.1_5'Flank|PPIL6_uc003pth.1_5'Flank	NM_003080	NP_003071	O60906	NSMA_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) (SMPD2), mRNA.	205					induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		TCTTGAAACTCGGGACTTCAA	0.542													10	137					0	0	0.006214	0	0	T	109764076	C	T	109764076	3	4	15	1	0	0	0	0	1	0	0	0	14805	875	31	2	639	2	SMPD2	6	109764076	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	20200697	109764076	61350991	38	632											
TMEM200A	114801	broad.mit.edu	37	chr6	130761742	130761742	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcaaaatccggctttatTccccatctggtttttttctt	6	18	7	10	1	2	0	0	0	2	0	4	0	4	0	3	3	0	3	3	3	3	7			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:130761742T>C	uc003qcb.3	+	1	2553	c.175T>C	c.(175-177)Tcc>Ccc	p.S59P	TMEM200A_uc003qca.3_Missense_Mutation_p.S59P|TMEM200A_uc010kfh.3_Missense_Mutation_p.S59P|TMEM200A_uc010kfi.3_Missense_Mutation_p.S59P|TMEM200A_uc021zfg.1_Missense_Mutation_p.S59P	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	59						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CCGGCTTTATTCCCCATCTGG	0.478													60	86					0	0	0.01441	0	0	C	130761742	T	C	130761742	3	2	15	1	0	0	0	0	1	0	0	0	16120	1783	62	3	177	3	TMEM200A	6	130761742	Missense_Mutation	SNP	T	TCGA-CS-6665-01A-11D-1893-08	20997666	130761742	40353325	39	633											
ZNF479	90827	broad.mit.edu	37	chr7	57187713	57187713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaattaaaggctttgccaCattcttcacatgtgtagggt	11	13	9	8	0	2	0	1	0	1	0	2	0	2	0	1	2	2	3	1	2	4	5			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr7:57187713C>T	uc010kzo.3	-	4	1680	c.1409G>A	c.(1408-1410)tGt>tAt	p.C470Y		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GGCTTTGCCACATTCTTCACA	0.408													21	77					0	0	0.021523	0	0	T	57187713	C	T	57187713	3	4	15	1	0	0	0	0	1	0	0	0	17930	478	17	3	169	3	ZNF479	7	57187713	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08		57187713	101950950	40	634											
FOXP2	93986	broad.mit.edu	37	chr7	114282537	114282537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcacagtatggaagacaatgGcattaaacatggagggctag	15	8	12	6	0	1	1	1	0	0	1	1	3	1	3	0	4	1	3	0	4	6	3			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr7:114282537G>A	uc003vhb.3	+	6	1222	c.848G>A	c.(847-849)gGc>gAc	p.G283D	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Missense_Mutation_p.G308D|FOXP2_uc003vha.3_Missense_Mutation_p.G191D|FOXP2_uc011kmv.2_Missense_Mutation_p.G282D|FOXP2_uc011kmu.2_Missense_Mutation_p.G300D|FOXP2_uc010ljz.2_Missense_Mutation_p.G191D|FOXP2_uc003vgx.2_Missense_Mutation_p.G283D|FOXP2_uc003vhc.3_Missense_Mutation_p.G308D|FOXP2_uc003vhd.3_Missense_Mutation_p.G283D	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	283					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GAAGACAATGGCATTAAACAT	0.428													33	56					0	0	0.013726	0	0	A	114282537	G	A	114282537	3	1	15	1	0	0	0	0	1	0	0	0	6027	1203	42	3	1004	3	FOXP2	7	114282537	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	57094824	114282537	44856126	41	635											
WNT2	7472	broad.mit.edu	37	chr7	116960776	116960776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcggtgacacagctgcCgctggctgctcaccaggcct	6	8	13	14	2	1	1	1	1	0	0	2	2	1	1	3	3	3	4	3	3	0	0			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr7:116960776C>T	uc003viz.3	-	1	455	c.155G>A	c.(154-156)cGg>cAg	p.R52Q	WNT2_uc003vja.3_5'UTR	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	52					Wnt receptor signaling pathway, calcium modulating pathway|atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ACACAGCTGCCGCTGGCTGCT	0.597													9	29					0	0	0.008291	0	0	T	116960776	C	T	116960776	3	4	15	1	0	0	0	0	1	0	0	0	17383	652	23	2	943	2	WNT2	7	116960776	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	2678239	116960776	42177887	42	636											
AKR1B10	57016	broad.mit.edu	37	chr7	134212705	134212705	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaccaaagccaagatgccCattgtgggcctgggcacttg	10	8	12	11	0	0	1	0	0	0	1	0	1	0	1	4	2	3	2	4	2	3	3			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr7:134212705C>T	uc003vrr.3	+	0	362	c.42C>T	c.(40-42)ccC>ccT	p.P14P		NM_020299	NP_064695	O60218	AK1BA_HUMAN	Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA.	14					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						CCAAGATGCCCATTGTGGGCC	0.502													17	78					0	0	0.006122	0	0	T	134212705	C	T	134212705	2	4	15	1	0	0	0	0	0	0	0	1	467	581	21	3		3	AKR1B10	7	134212705	Silent	SNP	C	TCGA-CS-6665-01A-11D-1893-08	17251929	134212705	24925958	43	637											
POLR3D	661	broad.mit.edu	37	chr8	22107627	22107627	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcttgtaccctggctgacCtgacagagggtcaggttggc	7	10	14	10	0	1	3	1	2	0	1	1	3	1	3	2	4	2	4	2	4	1	3			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr8:22107627C>A	uc003xbl.3	+	7	1044	c.961C>A	c.(961-963)Ctg>Atg	p.L321M	POLR3D_uc003xbm.3_Missense_Mutation_p.L321M|POLR3D_uc011kze.2_Non-coding_Transcript	NM_001722	NP_001713	P05423	RPC4_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide D, 44kDa (POLR3D), mRNA.	321					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CCTGGCTGACCTGACAGAGGG	0.542													34	51					2.48696e-23	3.91563e-23	0.015359	1	0	A	22107627	C	A	22107627	3	1	15	1	0	0	0	0	1	0	0	0	12231	680	24	5	987	5	POLR3D	8	22107627	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08		22107627	124256395	44	638											
DOCK5	80005	broad.mit.edu	37	chr8	25154057	25154057	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggttagatctggtggtgcgaGatgacaatgggaacatccta	11	10	14	6	1	1	3	0	1	1	2	2	5	2	4	1	4	2	1	1	4	4	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr8:25154057G>C	uc003xeg.3	+	6	636	c.499G>C	c.(499-501)Gat>Cat	p.D167H	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_5'UTR|DOCK5_uc003xef.3_Missense_Mutation_p.D167H	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	167						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.D167D(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGTGGTGCGAGATGACAATGG	0.512													4	15					0	0	0.009096	0	0	C	25154057	G	C	25154057	3	2	15	1	0	0	0	0	1	0	0	0	4690	942	33	5	525	5	DOCK5	8	25154057	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	3046430	25154057	121209965	45	639											
ANK1	286	broad.mit.edu	37	chr8	41543690	41543690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgcgttttggccttcaCggatgacccagaggttcagc	6	13	12	10	2	2	2	2	1	0	1	2	3	2	3	2	3	2	3	2	3	0	5	rs138642972	byFrequency	TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr8:41543690C>T	uc003xok.3	-	35	4454	c.4370G>A	c.(4369-4371)cGt>cAt	p.R1457H	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.R773H|ANK1_uc003xoi.3_Missense_Mutation_p.R1457H|ANK1_uc003xoj.3_Missense_Mutation_p.R1457H|ANK1_uc003xol.3_Missense_Mutation_p.R1457H|ANK1_uc003xom.3_Missense_Mutation_p.R1498H	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1457	55 kDa regulatory domain.|Death.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.R1457H(2)|p.I1456I(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTGGCCTTCACGGATGACCCA	0.522													25	72					0	0	0.00632	0	0	T	41543690	C	T	41543690	3	4	15	1	0	0	0	0	1	0	0	0	620	536	19	1	1629	1	ANK1	8	41543690	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	16389633	41543690	104820332	46	640											
CLVS1	157807	broad.mit.edu	37	chr8	62371030	62371030	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgactatactcacacatcCtataatgcaatgcacgtgaa	16	10	5	10	1	1	2	1	2	0	0	2	2	2	2	1	0	3	2	1	0	7	4			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr8:62371030C>T	uc003xuh.3	+	4	1230	c.906C>T	c.(904-906)tcC>tcT	p.S302S	CLVS1_uc003xui.3_Non-coding_Transcript	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	302					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.S302Y(1)		endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CTCACACATCCTATAATGCAA	0.502													20	51					0	0	0.016522	0	0	T	62371030	C	T	62371030	2	4	15	1	0	0	0	0	0	0	0	1	3571	668	24	3		3	CLVS1	8	62371030	Silent	SNP	C	TCGA-CS-6665-01A-11D-1893-08	20827340	62371030	83992992	47	641											
COL5A1	1289	broad.mit.edu	37	chr9	137591840	137591840	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcctggtctccatctacaaCgagcagggtatccagcagat	10	10	9	12	1	2	1	0	0	2	1	5	2	4	1	3	2	4	3	3	2	3	3			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr9:137591840C>T	uc004cfe.3	+	2	745	c.363C>T	c.(361-363)aaC>aaT	p.N121N		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	121	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCATCTACAACGAGCAGGGTA	0.587													27	113					0	0	0.007291	0	0	T	137591840	C	T	137591840	2	4	15	1	0	0	0	0	0	0	0	1	3696	535	19	1		1	COL5A1	9	137591840	Silent	SNP	C	TCGA-CS-6665-01A-11D-1893-08		137591840	3621591	48	642											
FAM21B	55747	broad.mit.edu	37	chr10	47909193	47909194	+	Frame_Shift_Del	DEL	CC	CC	-																															aagaggataacttattcacaCcccccaagctgaccgacgag																										TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr10:47909193_47909194delCC	uc009xni.3	+	9	763_764	c.763_764delCC	c.(763-765)cccfs	p.P255fs	FAM21B_uc001jep.4_Frame_Shift_Del_p.P150fs	NM_018232	NP_060702	Q5SNT6	FA21B_HUMAN	Homo sapiens family with sequence similarity 21, member B (FAM21B), mRNA.	255					retrograde transport, endosome to Golgi	WASH complex|early endosome membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						CTTATTCACACCCCCCAAGCTG	0.515													2	4	---	---	---	---						-	47909194	CC	-	47909193	7	5	15	1	0	1	0	1	0	0	0	0	5541	507	18	0	801	0	FAM21B	10	47909193	Frame_Shift_Del	DEL	CC	TCGA-CS-6665-01A-11D-1893-08		47909193	87625554	49	643											
FOLH1	2346	broad.mit.edu	37	chr11	49207240	49207240	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatttgctgggtaacctggTgtgagagggtctcctgcacc	6	11	13	11	0	1	1	0	1	1	1	2	2	1	1	4	3	3	3	4	3	1	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr11:49207240T>C	uc001ngy.3	-	5	1068	c.807A>G	c.(805-807)acA>acG	p.T269T	FOLH1_uc009yly.3_Silent_p.T254T|FOLH1_uc009ylz.3_Silent_p.T254T|FOLH1_uc001ngz.3_Silent_p.T269T|FOLH1_uc009yma.3_Intron	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	269					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GGTAACCTGGTGTGAGAGGGT	0.428													12	29					0	0	0.016723	0	0	C	49207240	T	C	49207240	2	2	15	1	0	0	0	0	0	0	0	1	5979	1683	59	3		3	FOLH1	11	49207240	Silent	SNP	T	TCGA-CS-6665-01A-11D-1893-08		49207240	85799276	50	644											
OR5D14	219436	broad.mit.edu	37	chr11	55563532	55563532	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcctttgttatgctctccgGttaaacttctctggacctaa	7	16	6	12	1	2	0	0	0	2	0	5	1	3	1	3	2	2	3	3	2	4	5			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr11:55563532G>T	uc010rim.2	+	0	501	c.501G>T	c.(499-501)cgG>cgT	p.R167R		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				ATGCTCTCCGGTTAAACTTCT	0.502													34	163					6.05902e-23	9.43931e-23	0.017118	1	0	T	55563532	G	T	55563532	2	4	15	1	0	0	0	0	0	0	0	1	11155	1248	44	5		5	OR5D14	11	55563532	Silent	SNP	G	TCGA-CS-6665-01A-11D-1893-08	6356292	55563532	79442984	51	645											
OR9G9	390174	broad.mit.edu	37	chr11	56468417	56468417	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatttgcttcccttggtggAgctggcctgtggcgagaagg	5	12	16	8	1	0	2	0	1	0	1	1	4	1	3	2	5	2	2	2	5	1	3			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr11:56468417A>G	uc010rjn.2	+	0	554	c.554A>G	c.(553-555)gAg>gGg	p.E185G	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	185			E -> K (in dbSNP:rs11228735).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										CCCTTGGTGGAGCTGGCCTGT	0.463													30	112					0	0	0.007291	0	0	G	56468417	A	G	56468417	3	3	15	1	0	0	0	0	1	0	0	0	11252	304	11	4	556	4	OR9G9	11	56468417	Missense_Mutation	SNP	A	TCGA-CS-6665-01A-11D-1893-08	904885	56468417	78538099	52	646											
APOA1	335	broad.mit.edu	37	chr11	116707048	116707048	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttccaggttatcccagaactCctgggtcacagggccgagct	8	9	11	13	1	1	1	1	0	0	1	4	2	4	1	4	3	2	2	4	3	2	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr11:116707048C>T	uc001ppv.1	-	3	318	c.280G>A	c.(280-282)Gag>Aag	p.E94K		NM_000039	NP_000030	P02647	APOA1_HUMAN	Homo sapiens apolipoprotein A-I (APOA1), mRNA.	94	10 X approximate tandem repeats.				Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cholesterol efflux|cholesterol homeostasis|cholesterol import|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport	endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle	apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding			cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2)	9	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TCCCAGAACTCCTGGGTCACA	0.592													23	81					0	0	0.012319	0	0	T	116707048	C	T	116707048	3	4	15	1	0	0	0	0	1	0	0	0	780	864	30	3	527	3	APOA1	11	116707048	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	60238631	116707048	18299468	53	647											
IRAK3	11213	broad.mit.edu	37	chr12	66638280	66638280	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttagtgcaaacatcctttTggatgatcagtttcaaccca	11	15	6	9	0	2	1	2	1	0	0	3	2	3	2	2	1	3	2	2	1	3	5			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr12:66638280T>C	uc001sth.3	+	8	1004	c.902T>C	c.(901-903)tTg>tCg	p.L301S	IRAK3_uc010ssy.2_Missense_Mutation_p.L240S	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA.	301	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|interleukin-1-mediated signaling pathway|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB transcription factor activity|positive regulation of macrophage tolerance induction|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		AACATCCTTTTGGATGATCAG	0.393													16	50					0	0	0.006122	0	0	C	66638280	T	C	66638280	3	2	15	1	0	0	0	0	1	0	0	0	7824	1821	63	3	936	3	IRAK3	12	66638280	Missense_Mutation	SNP	T	TCGA-CS-6665-01A-11D-1893-08		66638280	67213615	54	648											
KERA	11081	broad.mit.edu	37	chr12	91449807	91449807	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatggcttttcaggaatggtTtctatcaggttgttttgaag	9	17	11	4	0	3	1	2	1	1	0	3	2	3	2	0	4	0	4	0	4	4	7			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr12:91449807T>C	uc001tbl.3	-	1	871	c.252A>G	c.(250-252)gaA>gaG	p.E84E		NM_007035	NP_008966	O60938	KERA_HUMAN	Homo sapiens keratocan (KERA), mRNA.	84					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						CAGGAATGGTTTCTATCAGGT	0.348													13	73					0	0	0.013537	0	0	C	91449807	T	C	91449807	2	2	15	1	0	0	0	0	0	0	0	1	8143	1838	64	3		3	KERA	12	91449807	Silent	SNP	T	TCGA-CS-6665-01A-11D-1893-08	24811527	91449807	42402088	55	649											
TMCC3	57458	broad.mit.edu	37	chr12	94975589	94975589	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccccaaacgactggtttccGttactgtcggccgagcctga	7	9	11	14	4	0	1	0	1	0	0	2	3	1	1	5	2	3	2	5	2	2	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr12:94975589G>A	uc001tdj.2	-	1	922	c.804C>T	c.(802-804)aaC>aaT	p.N268N	TMCC3_uc001tdi.2_Silent_p.N237N	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 3 (TMCC3), mRNA.	268						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						ACTGGTTTCCGTTACTGTCGG	0.592													24	93					0	0	0.016522	0	0	A	94975589	G	A	94975589	2	1	15	1	0	0	0	0	0	0	0	1	15991	1136	40	1		1	TMCC3	12	94975589	Silent	SNP	G	TCGA-CS-6665-01A-11D-1893-08	3525782	94975589	38876306	56	650											
ATP8A2	51761	broad.mit.edu	37	chr13	26411309	26411309	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccctgcagattttcacCgctttgccgcccttcactct	4	15	5	17	2	4	1	2	0	2	1	5	1	4	1	4	0	2	2	4	0	0	5			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr13:26411309C>A	uc001uqk.3	+	28	2905	c.2763C>A	c.(2761-2763)acC>acA	p.T921T	ATP8A2_uc010tdi.2_Silent_p.T856T|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Silent_p.T471T	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	881					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGATTTTCACCGCTTTGCCGC	0.498													52	105					2.83923e-41	4.51834e-41	0.01441	1	0	A	26411309	C	A	26411309	2	1	15	1	0	0	0	0	0	0	0	1	1193	639	23	5		5	ATP8A2	13	26411309	Silent	SNP	C	TCGA-CS-6665-01A-11D-1893-08		26411309	88758569	57	651											
MYO16	23026	broad.mit.edu	37	chr13	109318372	109318372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcaaagcctactatgagcGcgagaaggcttttcagaagc	14	8	10	9	2	2	3	2	1	0	2	2	4	2	3	1	1	4	1	1	1	6	4			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr13:109318372G>A	uc010agk.2	+	1	789	c.167G>A	c.(166-168)cGc>cAc	p.R56H	MYO16_uc001vqt.1_Missense_Mutation_p.R34H	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	34					cerebellum development|negative regulation of S phase of mitotic cell cycle|negative regulation of cell proliferation	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	ATP binding|actin filament binding|motor activity	p.R34H(2)|p.V56I(1)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TACTATGAGCGCGAGAAGGCT	0.527													14	42					0	0	0.016723	0	0	A	109318372	G	A	109318372	3	1	15	1	0	0	0	0	1	0	0	0	10064	1087	38	1	103	1	MYO16	13	109318372	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	82907063	109318372	5851506	58	652											
CASC5	57082	broad.mit.edu	37	chr15	40914116	40914116	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaatacagcagagcctgTcaaatcctttgtctatttca	14	12	6	9	0	3	2	2	0	1	2	4	2	4	2	2	0	3	1	2	0	5	4			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr15:40914116T>C	uc010bbs.1	+	10	1893	c.1732T>C	c.(1732-1734)Tca>Cca	p.S578P	CASC5_uc010ucq.1_Missense_Mutation_p.S402P|CASC5_uc001zme.3_Missense_Mutation_p.S552P|CASC5_uc010bbt.1_Missense_Mutation_p.S552P	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	578	Interaction with BUB1 and BUB1B.				CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GCAGAGCCTGTCAAATCCTTT	0.358													10	48					0	0	0.010729	0	0	C	40914116	T	C	40914116	3	2	15	1	0	0	0	0	1	0	0	0	2663	1667	58	3	1770	3	CASC5	15	40914116	Missense_Mutation	SNP	T	TCGA-CS-6665-01A-11D-1893-08		40914116	61617276	59	653											
TUBGCP4	27229	broad.mit.edu	37	chr15	43695930	43695930	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctctgtcacagtttttgttCgctggtcagtcagaacctag	7	15	9	10	1	4	1	3	0	1	1	6	1	4	1	1	1	1	3	1	1	2	4	rs149549954	by1000genomes	TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr15:43695930C>T	uc001zro.3	+	15	2024	c.1784C>T	c.(1783-1785)tCg>tTg	p.S595L	TUBGCP4_uc001zrn.3_Missense_Mutation_p.S594L|TUBGCP4_uc010bdh.3_Non-coding_Transcript	NM_014444	NP_055259	Q9UGJ1	GCP4_HUMAN	Homo sapiens tubulin, gamma complex associated protein 4 (TUBGCP4), mRNA.	595					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		AGTTTTTGTTCGCTGGTCAGT	0.527													22	21					0	0	0.01892	0	0	T	43695930	C	T	43695930	3	4	15	1	0	0	0	0	1	0	0	0	16765	893	31	2	1843	2	TUBGCP4	15	43695930	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	2781814	43695930	58835462	60	654											
AP4E1	23431	broad.mit.edu	37	chr15	51260560	51260560	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaacgccaggaggaaaagcTttctcaggaaaaaggtaatt	16	8	10	7	1	2	0	2	0	1	0	3	3	2	3	1	4	2	2	1	4	6	3			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr15:51260560T>G	uc001zyx.2	+	14	2059	c.1952T>G	c.(1951-1953)cTt>cGt	p.L651R	AP4E1_uc021skz.1_Missense_Mutation_p.L576R	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA.	651					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GAGGAAAAGCTTTCTCAGGAA	0.373													6	14					0	0	0.001984	0	0	G	51260560	T	G	51260560	3	3	15	1	0	0	0	0	1	0	0	0	752	1609	56	5	2010	5	AP4E1	15	51260560	Missense_Mutation	SNP	T	TCGA-CS-6665-01A-11D-1893-08	7564630	51260560	51270832	61	655											
ACSM1	116285	broad.mit.edu	37	chr16	20635526	20635526	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtggggtcaggacaataaaGgccttcaccacctgcagaat	12	8	11	10	0	2	1	2	0	0	1	2	2	2	2	3	4	1	1	3	4	4	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr16:20635526G>A	uc002dhm.1	-	11	1607	c.1539C>T	c.(1537-1539)gcC>gcT	p.A513A	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Silent_p.A513A	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	513					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GGACAATAAAGGCCTTCACCA	0.473													21	69					0	0	0.014323	0	0	A	20635526	G	A	20635526	2	1	15	1	0	0	0	0	0	0	0	1	182	987	35	3		3	ACSM1	16	20635526	Silent	SNP	G	TCGA-CS-6665-01A-11D-1893-08		20635526	69719227	62	656											
ADAMTS18	170692	broad.mit.edu	37	chr16	77401350	77401350	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacatacatttcttgcgtcGtccacaaaaatgctgctttt	10	16	5	10	2	1	0	0	0	1	0	3	0	2	0	1	0	5	2	1	0	4	6			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr16:77401350G>A	uc002ffc.4	-	3	1185	c.766C>T	c.(766-768)Cga>Tga	p.R256*	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	256					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTCTTGCGTCGTCCACAAAAA	0.443													18	72					0	0	0.010504	0	0	A	77401350	G	A	77401350	4	1	15	1	0	0	0	0	0	1	0	0	263	1153	40	1	2979	1	ADAMTS18	16	77401350	Nonsense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	56765824	77401350	12953403	63	657											
TP53	7157	broad.mit.edu	37	chr17	7577105	7577105	+	Frame_Shift_Del	DEL	G	G	-																															ctgtgcgccggtctctcccaGgacaggcacaaacacgcacc																										TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr17:7577105delG	uc002gim.2	-	7	1027	c.833delC	c.(832-834)cctfs	p.P278fs	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Frame_Shift_Del_p.P278fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.P146fs|TP53_uc010cnf.1_Frame_Shift_Del_p.P146fs|TP53_uc002gii.1_Frame_Shift_Del_p.P146fs|TP53_uc010cni.1_Frame_Shift_Del_p.P278fs|TP53_uc010cnh.1_Frame_Shift_Del_p.P278fs|TP53_uc002gij.2_Frame_Shift_Del_p.P278fs|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.	278	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P278L(119)|p.P278R(58)|p.P278S(53)|p.P278H(25)|p.P278T(22)|p.C277F(22)|p.P278A(20)|p.C277Y(15)|p.0?(8)|p.P278F(7)|p.P278fs*67(7)|p.C277*(7)|p.C277G(5)|p.C277C(4)|p.A276_R283delACPGRDRR(2)|p.V274_P278del(2)|p.P278fs*28(2)|p.L265_K305del41(2)|p.C275_R283delCACPGRDRR(2)|p.?(2)|p.F270_D281del12(2)|p.C277W(2)|p.C277S(2)|p.V272_K292del21(2)|p.C277fs*29(2)|p.A276fs*64(1)|p.P278P(1)|p.C277_P278insXXXXXXX(1)|p.P278_G279insXXXXX(1)|p.S269fs*21(1)|p.A276_C277delAC(1)|p.C277R(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)		GTCTCTCCCAGGACAGGCACA	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	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)			38	13	---	---	---	---						-	7577105	G	-	7577105	7	5	15	1	0	1	0	1	0	0	0	0	16378	1000	35	0	453	0	TP53	17	7577105	Frame_Shift_Del	DEL	G	TCGA-CS-6665-01A-11D-1893-08		7577105	73618105	64	658											
DNAH2	146754	broad.mit.edu	37	chr17	7643864	7643864	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccacaggcttgcctcccgCgaggtgcggctgccccgcgg	3	7	14	17	5	0	0	0	0	0	0	2	1	2	0	5	4	3	2	5	4	0	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr17:7643864C>T	uc002giu.1	+	8	1517	c.1503C>T	c.(1501-1503)cgC>cgT	p.R501R	DNAH2_uc002git.3_Silent_p.R583R|DNAH2_uc010vuk.2_Silent_p.R501R	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	501	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTGCCTCCCGCGAGGTGCGGC	0.672													17	112					0	0	0.007413	0	0	T	7643864	C	T	7643864	2	4	15	1	0	0	0	0	0	0	0	1	4602	755	27	1		1	DNAH2	17	7643864	Silent	SNP	C	TCGA-CS-6665-01A-11D-1893-08	66759	7643864	73551346	65	659											
DNAJC7	7266	broad.mit.edu	37	chr17	40140910	40140910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctttgctttgagtgctttgGcattctacagaaaaaagcaa	12	14	8	7	0	2	2	0	1	2	1	2	2	2	2	0	1	4	4	0	1	5	5			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr17:40140910G>A	uc002hyo.3	-	7	1039	c.758C>T	c.(757-759)gCc>gTc	p.A253V	DNAJC7_uc010wgb.2_Missense_Mutation_p.A197V|DNAJC7_uc002hyp.3_Missense_Mutation_p.A197V|DNAJC7_uc010wgc.2_Missense_Mutation_p.A111V|DNAJC7_uc010cxw.3_Non-coding_Transcript	NM_003315	NP_001138238	Q99615	DNJC7_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 7 (DNAJC7), transcript variant 1, mRNA.	253					chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				GAGTGCTTTGGCATTCTACAG	0.423													51	84					0	0	0.01441	0	0	A	40140910	G	A	40140910	3	1	15	1	0	0	0	0	1	0	0	0	4654	1203	42	3	754	3	DNAJC7	17	40140910	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	32497046	40140910	41054300	66	660											
CSHL1	1444	broad.mit.edu	37	chr17	61987091	61987091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctagaagccacagctgccctCcacagagcggcactgcacca	11	4	9	17	1	0	2	0	0	0	2	1	2	1	2	4	1	5	3	4	1	2	1			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr17:61987091C>T	uc002jda.1	-	4	711	c.649G>A	c.(649-651)Gag>Aag	p.E217K	CSHL1_uc002jcz.1_Missense_Mutation_p.E194K|CSHL1_uc002jdb.1_Missense_Mutation_p.E123K|CSHL1_uc002jdc.1_Missense_Mutation_p.E134K|CSHL1_uc002jdd.1_Missense_Mutation_p.E155K	NM_022579	NP_001309	Q14406	CSHL_HUMAN	Homo sapiens chorionic somatomammotropin hormone-like 1 (CSHL1), transcript variant 1, mRNA.	217						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						CAGCTGCCCTCCACAGAGCGG	0.632													41	65					0	0	0.006999	0	0	T	61987091	C	T	61987091	3	4	15	1	0	0	0	0	1	0	0	0	3942	864	30	3	23	3	CSHL1	17	61987091	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	21846181	61987091	19208119	67	661											
LGALS3BP	3959	broad.mit.edu	37	chr17	76967757	76967757	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggaaggaggaggtgctcttCgagctgttggtgtccagggc	6	9	19	7	1	1	0	0	0	1	0	3	4	2	3	1	6	2	3	1	6	1	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr17:76967757C>T	uc002jwh.3	-	5	1838	c.1659G>A	c.(1657-1659)tcG>tcA	p.S553S	LGALS3BP_uc002jwi.3_Silent_p.S359S	NM_005567	NP_005558	Q08380	LG3BP_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 3 binding protein (LGALS3BP), mRNA.	553					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity	p.S553S(2)		NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			AGGTGCTCTTCGAGCTGTTGG	0.612											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	43					0	0	0.01892	0	0	T	76967757	C	T	76967757	2	4	15	1	0	0	0	0	0	0	0	1	8744	871	31	2		2	LGALS3BP	17	76967757	Silent	SNP	C	TCGA-CS-6665-01A-11D-1893-08	14980666	76967757	4227453	68	662											
EMILIN2	84034	broad.mit.edu	37	chr18	2891806	2891806	+	Frame_Shift_Del	DEL	C	C	-																															tgctgaacatccagggaaagCctcatgggatggaaggtgcc																										TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr18:2891806delC	uc002kln.3	+	3	1840	c.1681delC	c.(1681-1683)cctfs	p.P561fs		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	561					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CCAGGGAAAGCCTCATGGGAT	0.502													23	64	---	---	---	---						-	2891806	C	-	2891806	7	5	15	1	0	1	0	1	0	0	0	0	5094	739	26	0	1695	0	EMILIN2	18	2891806	Frame_Shift_Del	DEL	C	TCGA-CS-6665-01A-11D-1893-08		2891806	75185442	69	663											
LAMA3	3909	broad.mit.edu	37	chr18	21489195	21489195	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagctgttgcccttgggaaAcatctctgacaacatggaca	12	9	9	11	0	1	1	0	1	1	0	2	3	1	3	1	2	4	2	1	2	2	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr18:21489195A>G	uc002kuq.3	+	54	7180	c.7094A>G	c.(7093-7095)aAc>aGc	p.N2365S	LAMA3_uc002kur.3_Missense_Mutation_p.N2309S|LAMA3_uc002kus.4_Missense_Mutation_p.N756S|LAMA3_uc002kut.4_Missense_Mutation_p.N700S	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2365	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCTTGGGAAACATCTCTGAC	0.453													13	69					0	0	0.013537	0	0	G	21489195	A	G	21489195	3	3	15	1	0	0	0	0	1	0	0	0	8607	43	2	3	7487	3	LAMA3	18	21489195	Missense_Mutation	SNP	A	TCGA-CS-6665-01A-11D-1893-08	18597389	21489195	56588053	70	664											
SERPINB11	89778	broad.mit.edu	37	chr18	61387343	61387343	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaaggacaatggcaaaataAatttcaagtaagagagacag	21	6	9	5	0	1	2	1	0	0	2	1	4	1	3	0	2	0	2	0	2	8	3			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr18:61387343A>T	uc002ljk.4	+	6	740	c.569A>T	c.(568-570)aAa>aTa	p.K190I	SERPINB11_uc010xes.2_Missense_Mutation_p.K16I|SERPINB11_uc010dqd.3_Missense_Mutation_p.K77I|SERPINB11_uc002ljj.4_Missense_Mutation_p.K77I|SERPINB11_uc010dqe.3_Intron|SERPINB11_uc010dqf.3_Intron	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	191					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TGGCAAAATAAATTTCAAGTA	0.348													8	33					0	0	0.004482	0	0	T	61387343	A	T	61387343	3	4	15	1	0	0	0	0	1	0	0	0	14098	14	1	5	590	5	SERPINB11	18	61387343	Missense_Mutation	SNP	A	TCGA-CS-6665-01A-11D-1893-08	39898148	61387343	16689905	71	665											
S1PR2	9294	broad.mit.edu	37	chr19	10334891	10334891	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgaccgtcttgagcaGggctagcgtctgcggggcgg	5	8	19	9	4	2	2	0	2	2	0	2	3	2	2	1	5	3	2	1	5	1	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr19:10334891G>A	uc002mnl.2	-	1	802	c.691C>T	c.(691-693)Ctg>Ttg	p.L231L	S1PR2_uc021uos.1_Silent_p.L231L	NM_004230	NP_004221	O95136	S1PR2_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 2 (S1PR2), mRNA.	231					activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GTCTTGAGCAGGGCTAGCGTC	0.617													14	32					0	0	0.020292	0	0	A	10334891	G	A	10334891	2	1	15	1	0	0	0	0	0	0	0	1	13794	991	35	3		3	S1PR2	19	10334891	Silent	SNP	G	TCGA-CS-6665-01A-11D-1893-08		10334891	48794092	72	666											
ZNF585B	92285	broad.mit.edu	37	chr19	37676803	37676803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattcatactgtctctctcCagtgtgaattttctgatgta	8	17	7	9	0	4	2	1	2	3	0	6	2	4	2	1	0	1	2	1	0	3	5			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr19:37676803C>T	uc002ofq.3	-	4	1888	c.1636G>A	c.(1636-1638)Gga>Aga	p.G546R	ZNF585B_uc002ofr.1_Missense_Mutation_p.G360R	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	546					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTCTCTCTCCAGTGTGAATT	0.383													16	81					0	0	0.007413	0	0	T	37676803	C	T	37676803	3	4	15	1	0	0	0	0	1	0	0	0	18015	603	21	3	677	3	ZNF585B	19	37676803	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	27341912	37676803	21452180	73	667											
FCGBP	8857	broad.mit.edu	37	chr19	40368357	40368357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccccagcggcctggcaggCggccacgtaggaagccagag	10	2	15	14	3	0	1	0	0	0	1	0	2	0	2	5	5	3	2	5	5	3	1			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr19:40368357C>T	uc002omp.4	-	27	12999	c.12991G>A	c.(12991-12993)Gcc>Acc	p.A4331T		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4331						extracellular region	protein binding	p.A4331T(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCTGGCAGGCGGCCACGTAG	0.647													30	260					0	0	0.010818	0	0	T	40368357	C	T	40368357	3	4	15	1	0	0	0	0	1	0	0	0	5778	768	27	1	3262	1	FCGBP	19	40368357	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	2691554	40368357	18760626	74	668											
NLRP12	91662	broad.mit.edu	37	chr19	54299148	54299148	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgcagccaggatggctcagCcgcttgcaaagcagtcggac	9	7	13	12	2	1	0	1	0	0	0	2	2	1	2	2	3	5	5	2	3	1	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr19:54299148C>G	uc002qcj.4	-	8	3286	c.3066G>C	c.(3064-3066)cgG>cgC	p.R1022R	NLRP12_uc010eqw.3_Silent_p.R247R|NLRP12_uc002qch.4_Silent_p.R1021R|NLRP12_uc002qci.4_Silent_p.R964R|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Intron	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	1021					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GATGGCTCAGCCGCTTGCAAA	0.557													5	38					0	0	0.014758	0	0	G	54299148	C	G	54299148	2	3	15	1	0	0	0	0	0	0	0	1	10474	726	26	5		5	NLRP12	19	54299148	Silent	SNP	C	TCGA-CS-6665-01A-11D-1893-08	13930791	54299148	4829835	75	669											
PCSK2	5126	broad.mit.edu	37	chr20	17446133	17446133	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtgccatggtgaaaatGgctaaagactggaaaaccgt	14	7	13	7	1	0	2	0	1	0	1	0	3	0	3	2	4	2	2	2	4	6	1			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr20:17446133G>T	uc002wpm.3	+	10	1719	c.1365G>T	c.(1363-1365)atG>atT	p.M455I	PCSK2_uc002wpl.3_Missense_Mutation_p.M436I|PCSK2_uc010zrm.2_Missense_Mutation_p.M420I|PCSK2_uc002wpn.3_Missense_Mutation_p.M109I	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	455					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)	TGGTGAAAATGGCTAAAGACT	0.567													7	45					1.26484e-09	1.89088e-09	0.00308	1	0	T	17446133	G	T	17446133	3	4	15	1	0	0	0	0	1	0	0	0	11601	1348	47	5	1407	5	PCSK2	20	17446133	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08		17446133	45579387	76	670											
CYTH4	27128	broad.mit.edu	37	chr22	37705324	37705326	+	In_Frame_Del	DEL	CTT	CTT	-																															ggcaatgacctcactcacacCttcttcaatccagaccggga																										TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr22:37705324_37705326delCTT	uc003arf.3	+	8	884_886	c.768_770delCTT	c.(766-771)accttc>acc	p.F258del	CYTH4_uc003are.2_3'UTR|CYTH4_uc011amw.2_In_Frame_Del_p.F201del	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	Homo sapiens cytohesin 4 (CYTH4), mRNA.	258					regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						TCACTCACACCTTCTTCAATCCA	0.567													45	81	---	---	---	---						-	37705326	CTT	-	37705324	7	5	15	1	0	1	0	1	0	0	0	0	4206	668	24	0	802	0	CYTH4	22	37705324	In_Frame_Del	DEL	CTT	TCGA-CS-6665-01A-11D-1893-08		37705324	13599242	77	671											
GYG2	8908	broad.mit.edu	37	chrX	2799186	2799186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaagtgggaggaaggcCgtatcgactacatggggaag	12	5	19	5	2	0	0	0	0	0	0	1	6	0	5	1	7	1	1	1	7	5	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:2799186C>T	uc004cqs.1	+	11	1720	c.1438C>T	c.(1438-1440)Cgt>Tgt	p.R480C	GYG2_uc004cqu.1_Missense_Mutation_p.R448C|GYG2_uc004cqx.2_Missense_Mutation_p.R409C|GYG2_uc004cqt.1_Missense_Mutation_p.R449C|GYG2_uc004cqv.1_Missense_Mutation_p.R223C|GYG2_uc004cqw.1_Missense_Mutation_p.R440C|GYG2_uc010ndc.1_Missense_Mutation_p.R258C	NM_003918	NP_003909	O15488	GLYG2_HUMAN	Homo sapiens glycogenin 2 (GYG2), transcript variant 2, mRNA.	480					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGAGGAAGGCCGTATCGACTA	0.572													7	29					0	0	0.00308	0	0	T	2799186	C	T	2799186	3	4	15	1	0	0	0	0	1	0	0	0	6906	652	23	2	1480	2	GYG2	23	2799186	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08		2799186	152471374	78	672											
PRPS2	5634	broad.mit.edu	37	chrX	12838861	12838861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaataatgccgcctttgaggCtgttgtcgtcacaaacacaa	13	10	8	10	2	1	1	1	1	0	0	2	1	1	1	2	1	2	2	2	1	4	3			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:12838861C>T	uc004cva.3	+	5	955	c.812C>T	c.(811-813)gCt>gTt	p.A271V	PRPS2_uc004cvb.3_Missense_Mutation_p.A268V|PRPS2_uc010nec.3_Missense_Mutation_p.A146V	NM_001039091	NP_001034180	P11908	PRPS2_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 2 (PRPS2), transcript variant 1, mRNA.	268					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						GCCTTTGAGGCTGTTGTCGTC	0.483													19	70					0	0	0.010504	0	0	T	12838861	C	T	12838861	3	4	15	1	0	0	0	0	1	0	0	0	12580	797	28	3	834	3	PRPS2	23	12838861	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	10039675	12838861	142431699	79	673											
RS1	6247	broad.mit.edu	37	chrX	18660177	18660177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccggatggcaatgcggaCgtgccagcccagcgggatga	9	5	15	12	4	0	1	0	1	0	0	1	4	1	4	3	4	4	1	3	4	1	0			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:18660177C>T	uc004cyo.3	-	5	657	c.622G>A	c.(622-624)Gtc>Atc	p.V208I	CDKL5_uc004cym.3_Intron|CDKL5_uc004cyn.3_Intron	NM_000330	NP_000321	O15537	XLRS1_HUMAN	Homo sapiens retinoschisin 1 (RS1), mRNA.	208	F5/8 type C.				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					GCAATGCGGACGTGCCAGCCC	0.657													26	63					0	0	0.004656	0	0	T	18660177	C	T	18660177	3	4	15	1	0	0	0	0	1	0	0	0	13693	536	19	1	56	1	RS1	23	18660177	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	5821316	18660177	136610383	80	674											
POLA1	5422	broad.mit.edu	37	chrX	24830876	24830876	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagaagtacgctgctctGgttgttgagccaacgtcgga	12	9	12	8	3	1	2	0	1	1	1	2	3	1	3	1	2	4	5	1	2	5	3			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:24830876G>A	uc004dbl.3	+	28	3189	c.3174G>A	c.(3172-3174)ctG>ctA	p.L1058L		NM_016937	NP_058633	P09884	DPOLA_HUMAN	Homo sapiens polymerase (DNA directed), alpha 1, catalytic subunit (POLA1), mRNA.	1058					DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell proliferation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|regulation of transcription involved in G1/S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	ACGCTGCTCTGGTTGTTGAGC	0.393													20	50					0	0	0.014323	0	0	A	24830876	G	A	24830876	2	1	15	1	0	0	0	0	0	0	0	1	12187	1335	47	3		3	POLA1	23	24830876	Silent	SNP	G	TCGA-CS-6665-01A-11D-1893-08	6170699	24830876	130439684	81	675											
FAM47B	170062	broad.mit.edu	37	chrX	34962025	34962025	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgagaagaagctggaagaCgcacgggctcgttgtgaggg	10	7	17	7	3	1	4	0	2	1	3	2	6	1	5	0	3	1	4	0	3	3	1			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:34962025C>T	uc004ddi.2	+	0	1113	c.1077C>T	c.(1075-1077)gaC>gaT	p.D359D		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	359								p.D359D(2)		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						AGCTGGAAGACGCACGGGCTC	0.537													20	53					0	0	0.008871	0	0	T	34962025	C	T	34962025	2	4	15	1	0	0	0	0	0	0	0	1	5570	535	19	1		1	FAM47B	23	34962025	Silent	SNP	C	TCGA-CS-6665-01A-11D-1893-08	10131149	34962025	120308535	82	676											
CFP	5199	broad.mit.edu	37	chrX	47487019	47487019	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaggctcccagggccccCagccagaccagccgcccatc	9	2	10	20	1	0	1	0	0	0	1	2	1	1	1	7	2	3	2	7	2	1	0			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:47487019C>A	uc004dih.3	-	4	667	c.425G>T	c.(424-426)tGg>tTg	p.W142L	CFP_uc004dig.4_Missense_Mutation_p.W142L|CFP_uc004dii.1_Missense_Mutation_p.W78L|CFP_uc010nhu.2_Missense_Mutation_p.W142L	NM_002621	NP_002612	P27918	PROP_HUMAN	Homo sapiens complement factor properdin (CFP), transcript variant 1, mRNA.	142	TSP type-1 2.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						CCAGGGCCCCCAGCCAGACCA	0.632													7	16					0.00198382	0.00282313	0.001984	1	0	A	47487019	C	A	47487019	3	1	15	1	0	0	0	0	1	0	0	0	3293	595	21	5	1008	5	CFP	23	47487019	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	12524994	47487019	107783541	83	677											
FAM120C	54954	broad.mit.edu	37	chrX	54209051	54209051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtcccacgatcagttgcGctgtctgccgctcggcctgg	3	10	13	15	5	2	0	1	0	1	0	4	1	3	0	3	2	2	3	3	2	0	1			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:54209051G>A	uc004dsz.4	-	0	664	c.581C>T	c.(580-582)gCg>gTg	p.A194V	FAM120C_uc011moh.2_Missense_Mutation_p.A194V|FAM120C_uc004dta.2_Missense_Mutation_p.A194V	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	Homo sapiens family with sequence similarity 120C (FAM120C), transcript variant 1, mRNA.	194										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GATCAGTTGCGCTGTCTGCCG	0.721													7	15					0	0	0.001984	0	0	A	54209051	G	A	54209051	3	1	15	1	0	0	0	0	1	0	0	0	5418	1087	38	1	2795	1	FAM120C	23	54209051	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	6722032	54209051	101061509	84	678											
USP51	158880	broad.mit.edu	37	chrX	55514135	55514135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtacatagcatgaaaaagcGaagacatttcacagaccaga	19	6	8	8	1	1	4	1	1	0	3	1	5	1	4	1	0	3	2	1	0	5	3			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:55514135G>A	uc022bxu.1	-	0	1238	c.1238C>T	c.(1237-1239)tCg>tTg	p.S413L	USP51_uc004dun.2_Missense_Mutation_p.S413L	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	Homo sapiens ubiquitin specific peptidase 51 (USP51), mRNA.	413					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						ATGAAAAAGCGAAGACATTTC	0.438													14	45					0	0	0.020292	0	0	A	55514135	G	A	55514135	3	1	15	1	0	0	0	0	1	0	0	0	17080	1059	37	2	901	2	USP51	23	55514135	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	1305084	55514135	99756425	85	679											
KIAA2022	340533	broad.mit.edu	37	chrX	73963361	73963361	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagactctcgcttggggcagGtagtaaagacgctgggaaaa	12	8	14	7	2	1	2	0	0	1	2	2	3	1	3	0	4	0	5	0	4	6	4			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:73963361G>T	uc004eby.3	-	2	1648	c.1031C>A	c.(1030-1032)aCc>aAc	p.T344N		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	344					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.T344A(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTTGGGGCAGGTAGTAAAGAC	0.463													17	69					1.5739e-10	2.37691e-10	0.004007	1	0	T	73963361	G	T	73963361	3	4	15	1	0	0	0	0	1	0	0	0	8269	1261	44	5	3527	5	KIAA2022	23	73963361	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	18449226	73963361	81307199	86	680											
AMMECR1	9949	broad.mit.edu	37	chrX	109459855	109459855	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggaaaacggctatctttaAgggcactgttaaaaacaaag	16	8	11	6	1	1	0	0	0	1	0	1	1	1	1	0	4	2	3	0	4	8	4			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:109459855A>G	uc004eoo.3	-	2	671	c.590T>C	c.(589-591)cTt>cCt	p.L197P	AMMECR1_uc004eop.3_Missense_Mutation_p.L160P|AMMECR1_uc004eoq.3_Missense_Mutation_p.L74P	NM_015365	NP_001165160	Q9Y4X0	AMER1_HUMAN	Homo sapiens Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 (AMMECR1), transcript variant 1, mRNA.	197	AMMECR1.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GCTATCTTTAAGGGCACTGTT	0.378													21	95					0	0	0.012319	0	0	G	109459855	A	G	109459855	3	3	15	1	0	0	0	0	1	0	0	0	578	72	3	4	427	4	AMMECR1	23	109459855	Missense_Mutation	SNP	A	TCGA-CS-6665-01A-11D-1893-08	35496494	109459855	45810705	87	681											
GPC3	2719	broad.mit.edu	37	chrX	132887606	132887606	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttctccatgtcatagattCtgtacatgccattcacaagt	10	14	6	11	1	4	1	2	0	2	1	5	1	4	1	2	0	2	2	2	0	3	5			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:132887606C>A	uc010nrn.2	-	2	1132	c.935G>T	c.(934-936)aGa>aTa	p.R312I	GPC3_uc004exe.2_Missense_Mutation_p.R312I|GPC3_uc011mvh.2_Missense_Mutation_p.R296I|GPC3_uc010nro.2_Missense_Mutation_p.R258I|GPC3_uc010nrp.2_Missense_Mutation_p.R184I	NM_001164617	NP_001158089	P51654	GPC3_HUMAN	Homo sapiens glypican 3 (GPC3), transcript variant 1, mRNA.	312						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					GTCATAGATTCTGTACATGCC	0.443			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome				6	144					8.12818e-05	0.000117938	0.001984	1	0	A	132887606	C	A	132887606	3	1	15	1	0	0	0	0	1	0	0	0	6599	913	32	5	904	5	GPC3	23	132887606	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	23427751	132887606	22382954	88	682											
PTPN14	5784	broad.mit.edu	37	chr1	214625279	214625279	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctccacccatcgtgcttgCtggctcttgctgagaaacca	8	10	9	14	1	1	1	0	1	1	1	3	2	2	1	3	1	5	5	3	1	1	2			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr1:214625279C>G	uc001hkk.2	-	2	866	c.213G>C	c.(211-213)caG>caC	p.Q71H	PTPN14_uc021piy.1_5'UTR|PTPN14_uc010pty.2_5'UTR	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	71	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		ATCGTGCTTGCTGGCTCTTGC	0.458													8	120					0	0	0.361761	0	0	G	214625279	C	G	214625279	3	3	16	1	0	0	0	0	1	0	0	0	12783	796	28	5	3418	5	PTPN14	1	214625279	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08		214625279	34625342	1	683											
REL	5966	broad.mit.edu	37	chr2	61149057	61149057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcaagctggtcatcagtggCccaccccaccccacgctcag	8	7	8	18	1	4	0	4	0	0	0	4	0	4	0	5	2	1	2	5	2	1	1			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:61149057C>T	uc002sam.1	+	10	1471	c.1247C>T	c.(1246-1248)gCc>gTc	p.A416V	REL_uc002san.1_Missense_Mutation_p.A384V	NM_002908	NP_002899	Q04864	REL_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog (avian) (REL), mRNA.	416					positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			TCATCAGTGGCCCACCCCACC	0.502			A		Hodgkin Lymphoma								10	79					0	0	0.411799	0	0	T	61149057	C	T	61149057	3	4	16	1	0	0	0	0	1	0	0	0	13215	739	26	3	1289	3	REL	2	61149057	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08		61149057	182050316	2	684											
DYNC1I2	1781	broad.mit.edu	37	chr2	172586272	172586272	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggaccaatcactggcaTccattgtcatgcagctgttg	10	11	9	11	0	3	0	3	0	0	0	4	1	4	1	2	2	2	4	2	2	2	2			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:172586272T>C	uc002uha.1	+	14	1610	c.1445T>C	c.(1444-1446)aTc>aCc	p.I482T	DYNC1I2_uc002uhb.1_Missense_Mutation_p.I456T|DYNC1I2_uc010zds.1_Missense_Mutation_p.I474T|DYNC1I2_uc002uhc.3_Missense_Mutation_p.I456T|DYNC1I2_uc002uhe.1_Missense_Mutation_p.I482T|DYNC1I2_uc002uhf.1_Missense_Mutation_p.I456T|DYNC1I2_uc010zdt.1_Missense_Mutation_p.I474T|DYNC1I2_uc002uhg.1_Missense_Mutation_p.I397T|DYNC1I2_uc010zdu.1_Missense_Mutation_p.I205T	NM_001378	NP_001369	Q13409	DC1I2_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 2 (DYNC1I2), mRNA.	482					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			ATCACTGGCATCCATTGTCAT	0.398													10	129					0	0	0.361761	0	0	C	172586272	T	C	172586272	3	2	16	1	0	0	0	0	1	0	0	0	4843	1435	50	3	1499	3	DYNC1I2	2	172586272	Missense_Mutation	SNP	T	TCGA-CS-6666-01A-11D-1893-08	111437215	172586272	70613101	3	685											
NBEAL1	65065	broad.mit.edu	37	chr2	204003429	204003429	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaaaactctctcaaattcaGatccagttgcttctaggatt	12	14	6	9	0	4	1	2	0	2	1	6	2	5	2	1	1	2	3	1	1	4	6			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:204003429G>C	uc002uzt.3	+	29	5052	c.4719G>C	c.(4717-4719)caG>caC	p.Q1573H	NBEAL1_uc021vvj.1_Missense_Mutation_p.Q276H	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	1573							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTCAAATTCAGATCCAGTTGC	0.373													22	210					0	0	0.654019	0	0	C	204003429	G	C	204003429	3	2	16	1	0	0	0	0	1	0	0	0	10188	933	33	5	4833	5	NBEAL1	2	204003429	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08	31417157	204003429	39195944	4	686											
NDUFS1	4719	broad.mit.edu	37	chr2	206991481	206991481	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaattagccccttcaatatCatcatatcgaacaagattag	15	12	5	9	1	3	1	3	0	0	1	4	2	3	1	2	0	2	1	2	0	8	6			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:206991481C>G	uc010ziq.2	-	16	2075	c.2014G>C	c.(2014-2016)Gat>Cat	p.D672H	NDUFS1_uc002vbe.3_Missense_Mutation_p.D658H|NDUFS1_uc010zir.2_Missense_Mutation_p.D622H|NDUFS1_uc010zis.2_Missense_Mutation_p.D601H|NDUFS1_uc010zit.2_Missense_Mutation_p.D547H|NDUFS1_uc010ziu.2_Missense_Mutation_p.D542H	NM_001199984	NP_001186913	P28331	NDUS1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) (NDUFS1), transcript variant 5, mRNA.	658					ATP metabolic process|apoptosis|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	CCTTCAATATCATCATATCGA	0.393													16	161					0	0	0.520397	0	0	G	206991481	C	G	206991481	3	3	16	1	0	0	0	0	1	0	0	0	10291	826	29	5	223	5	NDUFS1	2	206991481	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08	2988052	206991481	36207892	5	687											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:209113113G>A	uc002vcs.3	-	3	640	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_uc002vct.3_Missense_Mutation_p.R132C|IDH1_uc002vcu.3_Missense_Mutation_p.R132C	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								44	65					0	0	0.870114	0	0	A	209113113	G	A	209113113	3	1	16	1	0	0	0	0	1	0	0	0	7494	1058	37	2	878	2	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08	2121632	209113113	34086260	6	688											
VIL1	7429	broad.mit.edu	37	chr2	219299321	219299321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtccagggaactggcGccaacaacaccaaggccttt	11	6	10	14	1	0	0	0	0	0	0	2	1	2	1	5	4	3	0	5	4	4	1			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:219299321G>A	uc002vib.3	+	12	1595	c.1573G>A	c.(1573-1575)Gcc>Acc	p.A525T	VIL1_uc010zke.2_Missense_Mutation_p.A214T|VIL1_uc002via.3_Missense_Mutation_p.A525T	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	525	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGAACTGGCGCCAACAACAC	0.572													64	74					0	0	0.870114	0	0	A	219299321	G	A	219299321	3	1	16	1	0	0	0	0	1	0	0	0	17161	1087	38	1	1623	1	VIL1	2	219299321	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08	10186208	219299321	23900052	7	689											
DYNC1LI1	51143	broad.mit.edu	37	chr3	32571802	32571802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccttccagctgcagttggtgGttgctttgctaaaagggact	7	13	12	9	0	0	0	0	0	0	0	1	1	1	1	2	3	4	6	2	3	2	5			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr3:32571802G>A	uc003cfb.4	-	9	1263	c.1159C>T	c.(1159-1161)Cca>Tca	p.P387S	DYNC1LI1_uc011axh.2_Missense_Mutation_p.P271S	NM_016141	NP_057225	Q9Y6G9	DC1L1_HUMAN	Homo sapiens dynein, cytoplasmic 1, light intermediate chain 1 (DYNC1LI1), mRNA.	387					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						GCAGTTGGTGGTTGCTTTGCT	0.284													3	33					0	0	0.150653	0	0	A	32571802	G	A	32571802	3	1	16	1	0	0	0	0	1	0	0	0	4844	1261	44	3	428	3	DYNC1LI1	3	32571802	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08		32571802	165450628	8	690											
C4orf40	401137	broad.mit.edu	37	chr4	71024317	71024318	+	Frame_Shift_Ins	INS	-	-	T																															cgtttgtccctccttcaaggINStttttttcagcagctgcagc																								rs148239542		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr4:71024317_71024318insT	uc003hfa.4	+	3	421_422	c.348_349insT	c.(346-351)aggtttfs	p.R116fs	C4orf40_uc003hfb.4_Frame_Shift_Ins_p.R116fs	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN	Homo sapiens chromosome 4 open reading frame 40 (C4orf40), mRNA.	116						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTCCTTCAAGGTTTTTTTCAGC	0.55													8	378	---	---	---	---						T	71024318	-	T	71024317	7	5	16	1	0	1	1	0	0	0	0	0	2269	1252	44	0	358	0	C4orf40	4	71024317	Frame_Shift_Ins	INS	-	TCGA-CS-6666-01A-11D-1893-08		71024317	120129959	9	691											
MAB21L2	10586	broad.mit.edu	37	chr4	151505024	151505024	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacgctgctgctgtacgaGtgcgagaaacacccacgaga	13	5	12	11	4	0	3	0	0	0	3	0	6	0	3	1	0	5	4	1	0	3	1			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr4:151505024G>C	uc003ilw.3	+	0	1948	c.843G>C	c.(841-843)gaG>gaC	p.E281D	LRBA_uc003ils.4_5'Flank|LRBA_uc003ilt.4_Intron|LRBA_uc003ilu.4_Intron|LRBA_uc010ipj.3_Intron	NM_006439	NP_006430	Q9Y586	MB212_HUMAN	Homo sapiens mab-21-like 2 (C. elegans) (MAB21L2), mRNA.	281					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TGCTGTACGAGTGCGAGAAAC	0.627													7	58					0	0	0.335167	0	0	C	151505024	G	C	151505024	3	2	16	1	0	0	0	0	1	0	0	0	9142	1020	36	5	845	5	MAB21L2	4	151505024	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08	80480707	151505024	39649252	10	692											
CTSO	1519	broad.mit.edu	37	chr4	156847189	156847189	+	Nonstop_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttgatctgcccaacatgtCacacaaatatagaagaaacg	16	9	6	10	1	3	3	1	1	2	2	3	3	3	3	1	0	3	0	1	0	6	3			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr4:156847189C>G	uc003ipg.3	-	7	1014	c.965G>C	c.(964-966)tGa>tCa	p.*322S		NM_001334	NP_001325	P43234	CATO_HUMAN	Homo sapiens cathepsin O (CTSO), mRNA.	0					proteolysis	lysosome	cysteine-type endopeptidase activity	p.V321A(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		CCCAACATGTCACACAAATAT	0.308													8	26					0	0	0.307466	0	0	G	156847189	C	G	156847189	4	3	16	1	0	0	0	0	0	0	0	0	4040	837	29	5	4	5	CTSO	4	156847189	Nonstop_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08	5342165	156847189	34307087	11	693											
DNAH5	1767	broad.mit.edu	37	chr5	13769245	13769245	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cattgtcacttcttttaagaCctaattcaatataaagcaag	15	14	4	8	0	3	1	2	0	1	1	3	1	3	1	1	0	1	1	1	0	7	8			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr5:13769245C>G	uc003jfd.2	-	58	9763	c.9721_splice	c.e58-1	p.V3241_splice	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3241	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTTTTAAGACCTAATTCAAT	0.413									Kartagener syndrome				68	220					0	0	0.870114	0	0	G	13769245	C	G	13769245	5	3	16	1	0	0	0	0	0	0	1	0	4604	521	18	5	4241	5	DNAH5	5	13769245	Splice_Site	SNP	C	TCGA-CS-6666-01A-11D-1893-08		13769245	167146015	12	694											
LRRC16A	55604	broad.mit.edu	37	chr6	25606448	25606448	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagtcccccaaacccaGtctggcagcacggcccgtca	8	5	9	19	2	2	0	1	0	1	0	3	0	3	0	5	2	3	3	5	2	1	0			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:25606448G>C	uc011djw.2	+	34	4162	c.3794G>C	c.(3793-3795)aGt>aCt	p.S1265T	LRRC16A_uc010jpy.3_Missense_Mutation_p.S1259T	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.	1265					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CCCAAACCCAGTCTGGCAGCA	0.592													8	23					0	0	0.307466	0	0	C	25606448	G	C	25606448	3	2	16	1	0	0	0	0	1	0	0	0	8971	1029	36	5	3932	5	LRRC16A	6	25606448	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08		25606448	145508619	13	695											
OR12D2	26529	broad.mit.edu	37	chr6	29364925	29364925	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catcacaatctgggtcattgGttttttccatgccctgctgc	6	15	8	12	0	3	0	2	0	1	0	4	0	4	0	2	2	3	2	2	2	1	4			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:29364925G>T	uc003nmf.4	+	0	510	c.449G>T	c.(448-450)gGt>gTt	p.G150V		NM_013936	NP_039224	P58182	O12D2_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 2 (OR12D2), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TGGGTCATTGGTTTTTTCCAT	0.473													13	147					1.05317e-09	1.13856e-09	0.457914	1	0	T	29364925	G	T	29364925	3	4	16	1	0	0	0	0	1	0	0	0	10931	1261	44	5	451	5	OR12D2	6	29364925	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08	3758477	29364925	141750142	14	696											
CLIC1	1192	broad.mit.edu	37	chr6	31698750	31698750	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccggaaggcctcggggaTggtgaatccccggtacttct	6	9	13	13	3	1	1	0	1	1	0	4	3	3	3	5	6	1	1	5	6	3	2			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:31698750T>C	uc003nwr.3	-	5	859	c.595A>G	c.(595-597)Atc>Gtc	p.I199V	DDAH2_uc003nwp.3_5'Flank|DDAH2_uc003nwq.3_5'Flank	NM_001288	NP_001279	O00299	CLIC1_HUMAN	Homo sapiens chloride intracellular channel 1 (CLIC1), mRNA.	199	GST C-terminal.				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						GCCTCGGGGATGGTGAATCCC	0.582													20	35					0	0	0.557998	0	0	C	31698750	T	C	31698750	3	2	16	1	0	0	0	0	1	0	0	0	3525	1464	51	3	134	3	CLIC1	6	31698750	Missense_Mutation	SNP	T	TCGA-CS-6666-01A-11D-1893-08	2333825	31698750	139416317	15	697											
BTNL2	56244	broad.mit.edu	37	chr6	32370727	32370727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgacctgggaggctgatgaCcgaccccttctcctcagtga	7	9	11	14	1	2	4	1	4	1	0	3	6	2	5	5	2	0	1	5	2	0	1	rs79379254		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:32370727C>T	uc003obg.1	-	2	694	c.694G>A	c.(694-696)Gtc>Atc	p.V232I	BTNL2_uc010jty.1_Intron|BTNL2_uc010jtz.1_Intron|BTNL2_uc010jua.1_Intron	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN	Homo sapiens butyrophilin-like 2 (MHC class II associated) (BTNL2), mRNA.	232	Ig-like V-type 2.					integral to membrane		p.S231S(1)		central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						AGGCTGATGACCGACCCCTTC	0.582													23	22					0	0	0.624587	0	0	T	32370727	C	T	32370727	3	4	16	1	0	0	0	0	1	0	0	0	1565	507	18	3	689	3	BTNL2	6	32370727	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08	671977	32370727	138744340	16	698											
ENPP5	59084	broad.mit.edu	37	chr6	46129357	46129357	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggcatggcggtgatattgagGaggtggcatagtagtgggta	9	10	19	3	1	0	2	0	2	0	0	0	3	0	3	0	7	0	4	0	7	4	5			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:46129357G>A	uc003oxz.1	-	3	1348	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L	ENPP5_uc010jzc.1_3'UTR|ENPP5_uc011dvz.1_Silent_p.L286L|ENPP5_uc003oya.1_Silent_p.L380L	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) (ENPP5), mRNA.	380						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						TGATATTGAGGAGGTGGCATA	0.443													24	336					0	0	0.706142	0	0	A	46129357	G	A	46129357	2	1	16	1	0	0	0	0	0	0	0	1	5133	1161	41	3		3	ENPP5	6	46129357	Silent	SNP	G	TCGA-CS-6666-01A-11D-1893-08	13758630	46129357	124985710	17	699											
ABCB1	5243	broad.mit.edu	37	chr7	87183089	87183089	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacttacagtgagtacttgTccaatagaatattcccctga	12	12	6	11	0	0	3	0	2	0	1	2	3	2	3	4	0	2	1	4	0	6	6			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr7:87183089T>C	uc003uiz.2	-	9	1480	c.987A>G	c.(985-987)ggA>ggG	p.G329G	ABCB1_uc011khc.2_Silent_p.G265G	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	329	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TGAGTACTTGTCCAATAGAAT	0.378													46	64					0	0	0.870114	0	0	C	87183089	T	C	87183089	2	2	16	1	0	0	0	0	0	0	0	1	40	1654	58	3		3	ABCB1	7	87183089	Silent	SNP	T	TCGA-CS-6666-01A-11D-1893-08		87183089	71955574	18	700											
TAS2R4	50832	broad.mit.edu	37	chr7	141478489	141478489	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctatttctggtgaacaccatCtacttcgtctcttcaaatac	10	15	4	12	1	4	1	1	1	3	0	6	1	4	1	1	1	3	0	1	1	5	6			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr7:141478489C>G	uc003vwq.1	+	0	201	c.201C>G	c.(199-201)atC>atG	p.I67M		NM_016944	NP_058640	Q9NYW5	TA2R4_HUMAN	Homo sapiens taste receptor, type 2, member 4 (TAS2R4), mRNA.	67					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		TGAACACCATCTACTTCGTCT	0.443													19	244					0	0	0.557998	0	0	G	141478489	C	G	141478489	3	3	16	1	0	0	0	0	1	0	0	0	15574	903	32	5	203	5	TAS2R4	7	141478489	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08	54295400	141478489	17660174	19	701											
PURG	29942	broad.mit.edu	37	chr8	30889490	30889490	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagtagaaccttttattgTccactctgaaagaagtcccc	13	11	6	11	0	1	3	0	1	1	2	3	3	3	3	4	0	1	1	4	0	6	4			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr8:30889490T>C	uc003xin.3	-	0	828	c.809A>G	c.(808-810)gAc>gGc	p.D270G	WRN_uc003xio.4_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.D270G	NM_013357	NP_037489	Q9UJV8	PURG_HUMAN	Homo sapiens purine-rich element binding protein G (PURG), transcript variant A, mRNA.	270						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		CCTTTTATTGTCCACTCTGAA	0.438													57	56					0	0	0.870114	0	0	C	30889490	T	C	30889490	3	2	16	1	0	0	0	0	1	0	0	0	12829	1667	58	3	347	3	PURG	8	30889490	Missense_Mutation	SNP	T	TCGA-CS-6666-01A-11D-1893-08		30889490	115474532	20	702											
CSMD3	114788	broad.mit.edu	37	chr8	113326251	113326252	+	Frame_Shift_Ins	INS	-	-	A																															tgaataatccccactgagggINSaaataagcactggactttga																										TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr8:113326251_113326252insA	uc003ynu.3	-	48	7738_7739	c.7579_7580insT	c.(7579-7581)tccfs	p.S2527fs	CSMD3_uc003yns.3_Frame_Shift_Ins_p.S1729fs|CSMD3_uc003ynt.3_Frame_Shift_Ins_p.S2487fs|CSMD3_uc011lhx.2_Frame_Shift_Ins_p.S2423fs|CSMD3_uc003ynw.1_Frame_Shift_Ins_p.S238fs	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2527	CUB 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCCACTGAGGGAAATAAGCACT	0.317										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			11	259	---	---	---	---						A	113326252	-	A	113326251	7	5	16	1	0	1	1	0	0	0	0	0	3946	1174	41	0	3635	0	CSMD3	8	113326251	Frame_Shift_Ins	INS	-	TCGA-CS-6666-01A-11D-1893-08	82436761	113326251	33037771	21	703											
PLAA	9373	broad.mit.edu	37	chr9	26905915	26905915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaacaattgcaaaaagtcCtgagagcaagcagctggttt	16	8	9	8	0	0	1	0	1	0	1	1	2	1	1	1	1	5	5	1	1	6	2			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr9:26905915C>T	uc003zqd.3	-	13	2407	c.1982G>A	c.(1981-1983)aGg>aAg	p.R661K		NM_001031689	NP_001026859	Q9Y263	PLAP_HUMAN	Homo sapiens phospholipase A2-activating protein (PLAA), mRNA.	661	PUL.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		GCAAAAAGTCCTGAGAGCAAG	0.458													6	62					0	0	0.217242	0	0	T	26905915	C	T	26905915	3	4	16	1	0	0	0	0	1	0	0	0	12011	681	24	3	409	3	PLAA	9	26905915	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08		26905915	114307516	22	704											
CMIP	80790	broad.mit.edu	37	chr16	81641214	81641214	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtctcctacagcgcaattGaagacgttcagctgctgtcc	9	10	9	13	2	2	2	1	1	1	1	4	2	3	2	2	0	4	4	2	0	3	3			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr16:81641214G>T	uc002fgp.3	+	1	415	c.343G>T	c.(343-345)Gaa>Taa	p.E115*	CMIP_uc002fgq.2_Nonsense_Mutation_p.E21*|CMIP_uc010vnq.2_5'Flank	NM_198390	NP_938204	Q8IY22	CMIP_HUMAN	Homo sapiens c-Maf inducing protein (CMIP), transcript variant 1, mRNA.	81	PH.					cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						CAGCGCAATTGAAGACGTTCA	0.463													10	201					9.70103e-10	1.07789e-09	0.361761	1	0	T	81641214	G	T	81641214	4	4	16	1	0	0	0	0	0	1	0	0	3578	1291	45	5	371	5	CMIP	16	81641214	Nonsense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08		81641214	8713539	23	705											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr17:7578406C>T	uc002gim.2	-	4	718	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.3_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.2_Missense_Mutation_p.R136H	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(1654)|p.R175L(38)|p.R43H(36)|p.R82H(36)|p.R175G(15)|p.R175C(15)|p.R175P(12)|p.R174W(10)|p.0?(8)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.R174fs*24(4)|p.R174fs*73(4)|p.R174K(4)|p.R174fs*1(4)|p.R175fs*5(3)|p.V157_C176del20(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R174_C176delRRC(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R174fs*70(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174M(2)|p.R174fs*3(2)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174G(1)|p.R81fs*24(1)|p.R174fs*7(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			26	55					0	0	0.693898	0	0	T	7578406	C	T	7578406	3	4	16	1	0	0	0	0	1	0	0	0	16378	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08		7578406	73616804	24	706			1	1		2	2	62	N	T_C	6.89648e-05
TP53	7157	broad.mit.edu	37	chr17	7578467	7578467	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccatggcgcggacgcgggTgccgggcgggggtgtggaat	4	5	23	9	6	0	0	0	0	0	0	0	2	0	2	2	8	1	0	2	8	1	0			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr17:7578467T>G	uc002gim.2	-	4	657	c.463A>C	c.(463-465)Acc>Ccc	p.T155P	TP53_uc002gig.1_Missense_Mutation_p.T155P|TP53_uc002gih.3_Missense_Mutation_p.T155P|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.T23P|TP53_uc010cnf.1_Missense_Mutation_p.T23P|TP53_uc002gii.1_Missense_Mutation_p.T23P|TP53_uc010cni.1_Missense_Mutation_p.T155P|TP53_uc010cnh.1_Missense_Mutation_p.T155P|TP53_uc002gij.2_Missense_Mutation_p.T155P|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.T62P|TP53_uc002gio.2_Missense_Mutation_p.T23P|TP53_uc010vug.2_Missense_Mutation_p.T116P	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	155	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G154V(41)|p.T155P(33)|p.T155N(20)|p.T155A(18)|p.G154G(12)|p.T155I(12)|p.G154S(9)|p.0?(8)|p.G154D(6)|p.?(5)|p.P152fs*14(5)|p.T155T(5)|p.G154fs*14(4)|p.T155fs*23(4)|p.G154I(3)|p.G154fs*27(3)|p.T155S(3)|p.P151_V173del23(2)|p.G154fs*16(2)|p.G154_R156delGTR(2)|p.P153fs*22(2)|p.T155fs*26(2)|p.T155fs*25(2)|p.D148_T155delDSTPPPGT(2)|p.G154C(2)|p.T155_A161delTRVRAMA(2)|p.G154fs*22(2)|p.T155fs*15(2)|p.T155_R156delTR(2)|p.T62P(1)|p.G154A(1)|p.T23P(1)|p.D148fs*23(1)|p.T62A(1)|p.T23A(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.T155_R156insDSTPPPGT(1)|p.P153_G154insX(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)		CGGACGCGGGTGCCGGGCGGG	0.612		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)			42	40					0	0	0.870114	0	0	G	7578467	T	G	7578467	3	3	16	1	0	0	0	0	1	0	0	0	16378	1696	59	5	835	5	TP53	17	7578467	Missense_Mutation	SNP	T	TCGA-CS-6666-01A-11D-1893-08	61	7578467	73616743	25	707			1	1		2	2	62	N	T_C	6.89648e-05
KRT33A	3883	broad.mit.edu	37	chr17	39502881	39502881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacagctgggagctgtagcGggcctcgctctctgtcagcg	5	8	16	12	3	2	0	1	0	1	0	4	2	2	2	1	3	4	4	1	3	1	1	rs148488457		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr17:39502881G>A	uc002hwk.1	-	5	953	c.916C>T	c.(916-918)Cgc>Tgc	p.R306C		NM_004138	NP_004129	O76009	KT33A_HUMAN	Homo sapiens keratin 33A (KRT33A), mRNA.	306	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity	p.A305D(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GAGCTGTAGCGGGCCTCGCTC	0.587													6	83					0	0	0.248553	0	0	A	39502881	G	A	39502881	3	1	16	1	0	0	0	0	1	0	0	0	8469	1116	39	2	306	2	KRT33A	17	39502881	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08	31924414	39502881	41692329	26	708											
KRT33B	3884	broad.mit.edu	37	chr17	39520186	39520186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacatgcattggtggtggCgcaggggttggagggcagcc	6	9	18	8	1	1	0	1	0	0	0	1	1	1	1	1	7	2	4	1	7	0	3			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr17:39520186C>T	uc002hwl.3	-	6	1162	c.1117G>A	c.(1117-1119)Gcc>Acc	p.A373T		NM_002279	NP_002270	Q14525	KT33B_HUMAN	Homo sapiens keratin 33B (KRT33B), mRNA.	373	Tail.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TTGGTGGTGGCGCAGGGGTTG	0.522													8	113					0	0	0.27861	0	0	T	39520186	C	T	39520186	3	4	16	1	0	0	0	0	1	0	0	0	8470	768	27	1	101	1	KRT33B	17	39520186	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08	17305	39520186	41675024	27	709											
DCC	1630	broad.mit.edu	37	chr18	51025871	51025871	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccttacacaccacttttgTctcagccaggtaaagtactc	10	12	5	14	0	1	0	1	0	1	0	4	0	2	0	3	1	3	2	3	1	4	5			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr18:51025871T>C	uc002lfe.2	+	26	4718	c.4102T>C	c.(4102-4104)Tct>Cct	p.S1368P	DCC_uc010dpf.2_Missense_Mutation_p.S1001P	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1368					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACCACTTTTGTCTCAGCCAGG	0.443													80	109					0	0	0.870114	0	0	C	51025871	T	C	51025871	3	2	16	1	0	0	0	0	1	0	0	0	4282	1667	58	3	4208	3	DCC	18	51025871	Missense_Mutation	SNP	T	TCGA-CS-6666-01A-11D-1893-08		51025871	27051377	28	710											
KIF16B	55614	broad.mit.edu	37	chr20	16360692	16360692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaggctctcctcctgcttgCgaatctggagctgcacgatt	6	12	11	12	2	2	1	0	1	2	0	4	4	3	2	2	2	4	4	2	2	1	2			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr20:16360692C>T	uc002wpg.2	-	18	2114	c.1955G>A	c.(1954-1956)cGc>cAc	p.R652H	KIF16B_uc002wpe.1_Missense_Mutation_p.R34H|KIF16B_uc002wpf.1_Missense_Mutation_p.R34H|KIF16B_uc010gch.2_Missense_Mutation_p.R652H|KIF16B_uc010gci.2_Missense_Mutation_p.R652H|KIF16B_uc010gcj.2_Missense_Mutation_p.R663H	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	652	Glu-rich.				Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTCCTGCTTGCGAATCTGGAG	0.522													11	181					0	0	0.38729	0	0	T	16360692	C	T	16360692	3	4	16	1	0	0	0	0	1	0	0	0	8278	768	27	1	2030	1	KIF16B	20	16360692	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08		16360692	46664828	29	711											
PPP1R16B	26051	broad.mit.edu	37	chr20	37547124	37547124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacacctgggcagcagcatgGccaggacgggcgagagtagc	10	3	16	12	2	0	1	0	0	0	1	0	3	0	2	2	4	3	4	2	4	1	1			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr20:37547124G>A	uc002xje.3	+	10	1708	c.1519G>A	c.(1519-1521)Gcc>Acc	p.A507T	PPP1R16B_uc010ggc.3_Missense_Mutation_p.A465T	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	507					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CAGCAGCATGGCCAGGACGGG	0.612													5	68					0	0	0.184627	0	0	A	37547124	G	A	37547124	3	1	16	1	0	0	0	0	1	0	0	0	12366	1203	42	3	1557	3	PPP1R16B	20	37547124	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08	21186432	37547124	25478396	30	712											
DSCAM	1826	broad.mit.edu	37	chr21	41496241	41496241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgctgccttcacacccgCgggaggacctggaactggaa	8	5	13	15	4	1	0	1	0	0	0	1	4	1	4	4	4	2	1	4	4	2	1			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr21:41496241C>T	uc002yyq.1	-	19	4029	c.3577G>A	c.(3577-3579)Gcg>Acg	p.A1193T	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1193	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTCACACCCGCGGGAGGACCT	0.597													61	91					0	0	0.870114	0	0	T	41496241	C	T	41496241	3	4	16	1	0	0	0	0	1	0	0	0	4768	768	27	1	2517	1	DSCAM	21	41496241	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08		41496241	6633654	31	713											
TMPRSS2	7113	broad.mit.edu	37	chr21	42845269	42845269	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacttttccacgcagtgggcGgctgtcacgatccactcggg	6	10	12	13	4	1	0	1	0	0	0	4	1	3	0	2	3	1	2	2	3	1	3			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr21:42845269G>A	uc010gor.3	-	8	1054	c.993C>T	c.(991-993)gcC>gcT	p.A331A	TMPRSS2_uc002yzj.3_Silent_p.A294A|TMPRSS2_uc010gos.1_Silent_p.A294A	NM_001135099	NP_005647	O15393	TMPS2_HUMAN	Homo sapiens transmembrane protease, serine 2 (TMPRSS2), transcript variant 1, mRNA.	294	Peptidase S1.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				CGCAGTGGGCGGCTGTCACGA	0.692			T	"ERG, ETV1, ETV4, ETV5"	prostate								6	8					0	0	0.248553	0	0	A	42845269	G	A	42845269	2	1	16	1	0	0	0	0	0	0	0	1	16244	1103	39	2		2	TMPRSS2	21	42845269	Silent	SNP	G	TCGA-CS-6666-01A-11D-1893-08	1349028	42845269	5284626	32	714											
AGPAT3	56894	broad.mit.edu	37	chr21	45379705	45379705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaagcagctctaccgccGcctcaactgccgcctcgcct	7	6	8	20	4	2	0	1	0	1	0	3	0	2	0	6	0	6	3	6	0	3	1			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr21:45379705G>A	uc002zdx.3	+	3	1069	c.404G>A	c.(403-405)cGc>cAc	p.R135H	AGPAT3_uc002zdv.3_Missense_Mutation_p.R48H|AGPAT3_uc002zdw.3_Missense_Mutation_p.R48H|AGPAT3_uc002zdy.3_5'UTR	NM_020132	NP_064517	Q9NRZ7	PLCC_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 3 (AGPAT3), transcript variant 1, mRNA.	48					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		CTCTACCGCCGCCTCAACTGC	0.667													5	34					0	0	0.184627	0	0	A	45379705	G	A	45379705	3	1	16	1	0	0	0	0	1	0	0	0	388	1087	38	1	145	1	AGPAT3	21	45379705	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08	2534436	45379705	2750190	33	715											
UPK3A	7380	broad.mit.edu	37	chr22	45689091	45689091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actcgacgatcgacacgtggCcaggccggcggagcggaggc	8	3	17	13	7	0	0	0	0	0	0	2	5	0	2	2	6	1	0	2	6	0	0			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr22:45689091C>T	uc003bfy.3	+	4	628	c.601C>T	c.(601-603)Cca>Tca	p.P201S	UPK3A_uc010gzy.3_Missense_Mutation_p.P80S	NM_006953	NP_008884	O75631	UPK3A_HUMAN	Homo sapiens uroplakin 3A (UPK3A), transcript variant 1, mRNA.	201					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CGACACGTGGCCAGGCCGGCG	0.632													5	66					0	0	0.248553	0	0	T	45689091	C	T	45689091	3	4	16	1	0	0	0	0	1	0	0	0	17007	739	26	3	619	3	UPK3A	22	45689091	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08		45689091	5615475	34	716											
ATRX	546	broad.mit.edu	37	chrX	76919037	76919038	+	Frame_Shift_Ins	INS	-	-	T																															ctgattcagaattgacttgaINSttttttgcttctaaatgaag																										TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chrX:76919037_76919038insT	uc004ecp.4	-	11	4185_4186	c.3953_3954insA	c.(3952-3954)aatfs	p.N1318fs	ATRX_uc004ecq.4_Frame_Shift_Ins_p.N1280fs|ATRX_uc004eco.4_Frame_Shift_Ins_p.N1103fs|ATRX_uc004ecr.2_Frame_Shift_Ins_p.N1250fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1318					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AATTGACTTGATTTTTTGCTTC	0.351			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						21	3	---	---	---	---						T	76919038	-	T	76919037	7	5	16	1	0	1	1	0	0	0	0	0	1208	330	12	0	3620	0	ATRX	23	76919037	Frame_Shift_Ins	INS	-	TCGA-CS-6666-01A-11D-1893-08		76919037	78351523	35	717											
CASQ2	845	broad.mit.edu	37	chr1	116311162	116311162	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaacaagtgagttctcttcaTttgggaaaacttttgtttct	11	17	7	6	0	3	1	1	1	2	0	4	2	3	2	0	1	2	2	0	1	4	6			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr1:116311162T>C	uc001efx.4	-	0	265	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	CASQ2_uc010owu.2_Missense_Mutation_p.M1V	NM_001232	NP_001223	O14958	CASQ2_HUMAN	Homo sapiens calsequestrin 2 (cardiac muscle) (CASQ2), nuclear gene encoding mitochondrial protein, mRNA.	1					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GTTCTCTTCATTTGGGAAAAC	0.453													6	19					0	0	1	0	0	C	116311162	T	C	116311162	3	2	17	1	0	0	0	0	1	0	0	0	2681	1493	52	3	1242	3	CASQ2	1	116311162	Missense_Mutation	SNP	T	TCGA-CS-6667-01A-12D-2024-08		116311162	132939459	1	718											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								30	48					0	0	1	0	0	T	209113112	C	T	209113112	3	4	17	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CS-6667-01A-12D-2024-08		209113112	34086261	2	719											
ABCA12	26154	broad.mit.edu	37	chr2	215823176	215823176	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatatcgattaaactgctgAttctagagtgagcaataggg	15	11	10	5	1	1	3	0	2	1	1	2	4	1	3	0	1	3	2	0	1	7	5			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr2:215823176A>G	uc002vew.3	-	40	6162	c.5942T>C	c.(5941-5943)aTc>aCc	p.I1981T	ABCA12_uc002vev.3_Missense_Mutation_p.I1663T|ABCA12_uc010zjn.2_Missense_Mutation_p.I908T	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1981					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TAAACTGCTGATTCTAGAGTG	0.388													25	23					0	0	1	0	0	G	215823176	A	G	215823176	3	3	17	1	0	0	0	0	1	0	0	0	30	333	12	3	1897	3	ABCA12	2	215823176	Missense_Mutation	SNP	A	TCGA-CS-6667-01A-12D-2024-08	6710064	215823176	27376197	3	720											
CCDC108	255101	broad.mit.edu	37	chr2	219895549	219895549	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgctcaccagcagctgggcGcacttggctggggcagagat	8	7	15	11	1	1	1	1	0	0	1	1	2	1	1	1	4	3	6	1	4	0	1			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr2:219895549G>A	uc002vjl.1	-	8	1107	c.1023C>T	c.(1021-1023)tgC>tgT	p.C341C	CCDC108_uc010fwa.1_5'Flank|CCDC108_uc010zkp.1_Silent_p.C330C|CCDC108_uc010zkq.1_Silent_p.C276C	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	341						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGCTGGGCGCACTTGGCTG	0.637													8	25					0	0	1	0	0	A	219895549	G	A	219895549	2	1	17	1	0	0	0	0	0	0	0	1	2743	1079	38	1		1	CCDC108	2	219895549	Silent	SNP	G	TCGA-CS-6667-01A-12D-2024-08	4072373	219895549	23303824	4	721											
DNAJB3	414061	broad.mit.edu	37	chr2	234652393	234652393	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatcgcgtttcttggcgtccGacaacacctcgtaggcctcg	6	11	10	14	6	1	0	0	0	1	0	5	1	2	0	3	2	1	2	3	2	3	4			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr2:234652393G>A	uc002vuz.3	-	0	269	c.170C>T	c.(169-171)tCg>tTg	p.S57L	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc002vuw.3_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 3 (DNAJB3), mRNA.	57	J.				protein folding		heat shock protein binding|unfolded protein binding										CTTGGCGTCCGACAACACCTC	0.632													70	157					0	0	1	0	0	A	234652393	G	A	234652393	3	1	17	1	0	0	0	0	1	0	0	0	4621	1059	37	2	271	2	DNAJB3	2	234652393	Missense_Mutation	SNP	G	TCGA-CS-6667-01A-12D-2024-08	14756844	234652393	8546980	5	722											
H1FOO	132243	broad.mit.edu	37	chr3	129268112	129268113	+	Frame_Shift_Ins	INS	-	-	G																															cagtcgggagaggctaggaaINSggtgccccccaagccagaca																										TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr3:129268112_129268113insG	uc003emu.3	+	2	652_653	c.647_648insG	c.(646-648)aagfs	p.K216fs	H1FOO_uc003emv.3_Frame_Shift_Ins_p.K77fs	NM_153833	NP_722575	Q8IZA3	H1FOO_HUMAN	Homo sapiens H1 histone family, member O, oocyte-specific (H1FOO), mRNA.	216					meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding			endometrium(1)|lung(4)|skin(1)	6						GAGGCTAGGAAGGTGCCCCCCA	0.649													3	3	---	---	---	---						G	129268113	-	G	129268112	7	5	17	1	0	1	1	0	0	0	0	0	6922	72	3	0	657	0	H1FOO	3	129268112	Frame_Shift_Ins	INS	-	TCGA-CS-6667-01A-12D-2024-08		129268112	68754318	6	723											
EPHA5	2044	broad.mit.edu	37	chr4	66201659	66201659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggccttgtacctgcaggatGcattaaccagcgtcttcaga	9	11	10	11	1	2	1	1	0	1	1	2	2	2	2	3	2	5	3	3	2	2	4			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr4:66201659G>A	uc003hcy.3	-	15	3036	c.2843C>T	c.(2842-2844)gCa>gTa	p.A948V	EPHA5_uc003hcx.3_Missense_Mutation_p.A880V|EPHA5_uc003hcz.3_Missense_Mutation_p.A926V|EPHA5_uc011cah.2_Missense_Mutation_p.A949V|EPHA5_uc011cai.2_Missense_Mutation_p.A927V|EPHA5_uc003hda.2_Missense_Mutation_p.A949V	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	948					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CCTGCAGGATGCATTAACCAG	0.403										TSP Lung(17;0.13)			35	63					0	0	1	0	0	A	66201659	G	A	66201659	3	1	17	1	0	0	0	0	1	0	0	0	5170	1319	46	3	282	3	EPHA5	4	66201659	Missense_Mutation	SNP	G	TCGA-CS-6667-01A-12D-2024-08		66201659	124952617	7	724											
FAT4	79633	broad.mit.edu	37	chr4	126239329	126239329	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttagccagccagaagggtAtgatgtgtctgtggttgaga	10	12	14	5	0	1	3	0	2	1	2	1	4	1	3	2	2	2	2	2	2	3	4			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr4:126239329A>G	uc003ifj.4	+	0	1763	c.1763A>G	c.(1762-1764)tAt>tGt	p.Y588C		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	588	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAGAAGGGTATGATGTGTCT	0.532													35	51					0	0	1	0	0	G	126239329	A	G	126239329	3	3	17	1	0	0	0	0	1	0	0	0	5692	449	16	3	1765	3	FAT4	4	126239329	Missense_Mutation	SNP	A	TCGA-CS-6667-01A-12D-2024-08	60037670	126239329	64914947	8	725											
GEMIN5	25929	broad.mit.edu	37	chr5	154270897	154270897	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttacagagttgactctttTggtgttgtcggatcatttct	7	19	9	6	1	3	2	1	1	2	1	4	3	3	3	0	2	1	2	0	2	1	7			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr5:154270897T>C	uc003lvx.3	-	25	4249	c.4166A>G	c.(4165-4167)cAa>cGa	p.Q1389R	GEMIN5_uc011ddk.1_Missense_Mutation_p.Q1388R	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	1389					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTGACTCTTTTGGTGTTGTCG	0.458													36	55					0	0	1	0	0	C	154270897	T	C	154270897	3	2	17	1	0	0	0	0	1	0	0	0	6331	1812	63	3	372	3	GEMIN5	5	154270897	Missense_Mutation	SNP	T	TCGA-CS-6667-01A-12D-2024-08		154270897	26644363	9	726											
GRM4	2914	broad.mit.edu	37	chr6	33996059	33996059	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgggtggaagaggatgatgtAgactttgggcatgtagagca	11	9	17	4	1	0	4	0	1	0	3	0	6	0	6	0	4	1	4	0	4	3	3			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr6:33996059A>C	uc003oir.4	-	8	2890	c.2527T>G	c.(2527-2529)Tac>Gac	p.Y843D	GRM4_uc011dsn.2_Missense_Mutation_p.Y796D|GRM4_uc010jvh.3_Missense_Mutation_p.Y843D|GRM4_uc010jvi.3_Missense_Mutation_p.Y535D|GRM4_uc003oio.3_Missense_Mutation_p.Y535D|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Missense_Mutation_p.Y703D|GRM4_uc003oiq.3_Missense_Mutation_p.Y710D|GRM4_uc011dsm.2_Missense_Mutation_p.Y674D	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	843					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	AGGATGATGTAGACTTTGGGC	0.607													49	72					0	0	1	0	0	C	33996059	A	C	33996059	3	2	17	1	0	0	0	0	1	0	0	0	6799	420	15	5	219	5	GRM4	6	33996059	Missense_Mutation	SNP	A	TCGA-CS-6667-01A-12D-2024-08		33996059	137119008	10	727											
RARRES2	5919	broad.mit.edu	37	chr7	150037192	150037192	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaccccttcactcaccccAttgggcctgactttgcactc	7	10	5	19	0	2	1	2	1	0	0	3	1	2	1	5	1	1	1	5	1	0	3			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr7:150037192A>G	uc003wha.3	-	2	393	c.276T>C	c.(274-276)aaT>aaC	p.N92N		NM_002889	NP_002880	Q99969	RARR2_HUMAN	Homo sapiens retinoic acid receptor responder (tazarotene induced) 2 (RARRES2), mRNA.	92					embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process	extracellular matrix	receptor binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CACTCACCCCATTGGGCCTGA	0.567													193	327					0	0	1	0	0	G	150037192	A	G	150037192	2	3	17	1	0	0	0	0	0	0	0	1	13056	214	8	3		3	RARRES2	7	150037192	Silent	SNP	A	TCGA-CS-6667-01A-12D-2024-08		150037192	9101471	11	728											
KCNU1	157855	broad.mit.edu	37	chr8	36694322	36694322	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaacaggtttatctgccAaagattcccagctggaactg	12	10	10	9	0	1	1	0	0	1	1	2	3	2	3	2	3	4	2	2	3	4	3			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr8:36694322A>G	uc010lvw.3	+	13	1464	c.1377A>G	c.(1375-1377)ccA>ccG	p.P459P	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	459	RCK N-terminal.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TTTATCTGCCAAAGATTCCCA	0.423													15	37					0	0	1	0	0	G	36694322	A	G	36694322	2	3	17	1	0	0	0	0	0	0	0	1	8093	117	5	3		3	KCNU1	8	36694322	Silent	SNP	A	TCGA-CS-6667-01A-12D-2024-08		36694322	109669700	12	729											
RAG2	5897	broad.mit.edu	37	chr11	36614246	36614246	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttaagggtaggactctttgGggagtgtgtagagctcttgc	7	14	15	5	0	2	1	0	0	2	1	2	3	2	3	0	4	2	3	0	4	3	6			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr11:36614246G>A	uc021qge.1	-	0	1473	c.1473C>T	c.(1471-1473)ccC>ccT	p.P491P	RAG1_uc001mwt.3_Intron|RAG2_uc021qgc.1_Silent_p.P491P|RAG2_uc021qgd.1_Silent_p.P491P|RAG2_uc001mwv.4_Silent_p.P491P|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	491					T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins	nucleus	DNA binding|chromatin binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				GGACTCTTTGGGGAGTGTGTA	0.448									Familial Hemophagocytic Lymphohistiocytosis				30	49					0	0	1	0	0	A	36614246	G	A	36614246	2	1	17	1	0	0	0	0	0	0	0	1	13005	1219	43	3		3	RAG2	11	36614246	Silent	SNP	G	TCGA-CS-6667-01A-12D-2024-08		36614246	98392270	13	730											
ROBO3	64221	broad.mit.edu	37	chr11	124738751	124738751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcatcgtggagcagccgccaGatctgctggtctcccgaggc	6	7	14	14	3	2	1	0	0	2	1	4	3	2	2	3	3	3	3	3	3	0	0			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr11:124738751G>A	uc001qbc.3	+	1	383	c.214G>A	c.(214-216)Gat>Aat	p.D72N		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	72	Ig-like C2-type 1.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GCAGCCGCCAGATCTGCTGGT	0.672													3	12					0	0	1	0	0	A	124738751	G	A	124738751	3	1	17	1	0	0	0	0	1	0	0	0	13515	942	33	3	220	3	ROBO3	11	124738751	Missense_Mutation	SNP	G	TCGA-CS-6667-01A-12D-2024-08	88124505	124738751	10267765	14	731											
OPCML	4978	broad.mit.edu	37	chr11	132527046	132527046	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctgcacagagcaggtgtaCggaccttcgtcatacacatc	10	9	10	12	2	2	1	1	0	1	1	4	2	2	2	1	2	4	3	1	2	2	3			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr11:132527046C>T	uc010sck.2	-	1	386	c.336G>A	c.(334-336)ccG>ccA	p.P112P	OPCML_uc001qgu.3_Silent_p.P105P|OPCML_uc001qgs.3_Silent_p.P112P|OPCML_uc001qgt.3_Silent_p.P112P|OPCML_uc010scl.2_Silent_p.P71P	NM_002545	NP_002536	Q14982	OPCM_HUMAN	Homo sapiens opioid binding protein/cell adhesion molecule-like (OPCML), transcript variant 1, mRNA.	112	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity	p.P112L(1)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		AGCAGGTGTACGGACCTTCGT	0.502													19	56					0	0	1	0	0	T	132527046	C	T	132527046	2	4	17	1	0	0	0	0	0	0	0	1	10874	523	19	1		1	OPCML	11	132527046	Silent	SNP	C	TCGA-CS-6667-01A-12D-2024-08	7788295	132527046	2479470	15	732											
FREM2	341640	broad.mit.edu	37	chr13	39454427	39454427	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgtgctttctaggtcgctCtaggccgagaatggtatata	8	14	12	7	2	2	1	0	0	2	1	3	2	2	1	1	3	1	4	1	3	6	7	rs148812741		TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr13:39454427C>G	uc001uwv.3	+	23	9322	c.9013C>G	c.(9013-9015)Cta>Gta	p.L3005V		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	3005					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTAGGTCGCTCTAGGCCGAGA	0.388													17	31					0	0	1	0	0	G	39454427	C	G	39454427	3	3	17	1	0	0	0	0	1	0	0	0	6045	912	32	5	9107	5	FREM2	13	39454427	Missense_Mutation	SNP	C	TCGA-CS-6667-01A-12D-2024-08		39454427	75715451	16	733											
TMX1	81542	broad.mit.edu	37	chr14	51713855	51713855	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatcagggtccaaggactaaGaaggacttcataaactttat	15	11	8	7	0	2	1	2	0	0	1	3	3	3	3	1	3	1	0	1	3	7	6			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr14:51713855G>C	uc001wza.4	+	3	485	c.360G>C	c.(358-360)aaG>aaC	p.K120N	TMX1_uc010aoa.3_Missense_Mutation_p.K36N	NM_030755	NP_110382	Q9H3N1	TMX1_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 1 (TMX1), mRNA.	120	Thioredoxin.				DNA replication|ER to Golgi vesicle-mediated transport|anti-apoptosis|cell proliferation|cell redox homeostasis|electron transport chain|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction	endoplasmic reticulum membrane|integral to membrane|membrane fraction	arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity			endometrium(2)|large_intestine(2)|urinary_tract(1)	5						CAAGGACTAAGAAGGACTTCA	0.353													38	46					0	0	1	0	0	C	51713855	G	C	51713855	3	2	17	1	0	0	0	0	1	0	0	0	16263	933	33	5	374	5	TMX1	14	51713855	Missense_Mutation	SNP	G	TCGA-CS-6667-01A-12D-2024-08		51713855	55635685	17	734											
VPS13C	54832	broad.mit.edu	37	chr15	62302761	62302776	+	Frame_Shift_Del	DEL	CATGTAGAGTTTTGCA	CATGTAGAGTTTTGCA	-																															tctgattctgcataaggattCatgtagagttttgcagaggc																										TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr15:62302761_62302776delCATGTAGAGTTTTGCA	uc002agz.3	-	12	997_1012	c.906_921delTGCAAAACTCTACATG	c.(904-921)tctgcaaaactctacatgfs	p.S302fs	VPS13C_uc002aha.3_Frame_Shift_Del_p.S259fs|VPS13C_uc002ahb.2_Frame_Shift_Del_p.S302fs|VPS13C_uc002ahc.2_Frame_Shift_Del_p.S259fs	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	302					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CATAAGGATTCATGTAGAGTTTTGCAGAGGCTGATA	0.352													17	58	---	---	---	---						-	62302776	CATGTAGAGTTTTGCA	-	62302761	7	5	17	1	0	1	0	1	0	0	0	0	17188	826	29	0	10660	0	VPS13C	15	62302761	Frame_Shift_Del	DEL	CATGTAGAGTTTTGCA	TCGA-CS-6667-01A-12D-2024-08		62302761	40228631	18	735											
TP53	7157	broad.mit.edu	37	chr17	7578550	7578550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acatcttgttgagggcagggGagtactgtaggaagaggaag	12	8	17	4	0	1	2	0	1	1	1	1	5	1	5	0	5	1	4	0	5	4	4			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr17:7578550G>A	uc002gim.2	-	4	574	c.380C>T	c.(379-381)tCc>tTc	p.S127F	TP53_uc002gig.1_Missense_Mutation_p.S127F|TP53_uc002gih.3_Missense_Mutation_p.S127F|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Missense_Mutation_p.S127F|TP53_uc010cnh.1_Missense_Mutation_p.S127F|TP53_uc002gij.2_Missense_Mutation_p.S127F|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.S34F|TP53_uc002gio.2_5'UTR|TP53_uc010vug.2_Missense_Mutation_p.S88F	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	127	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S127F(44)|p.S127Y(16)|p.Y126_K132delYSPALNK(12)|p.S127C(10)|p.Y126*(10)|p.0?(8)|p.S127T(6)|p.Y126N(6)|p.Y126_N131delYSPALN(6)|p.Y126D(5)|p.S127P(4)|p.Y126C(4)|p.A129fs*20(3)|p.S127_Q136del10(2)|p.S127fs*42(2)|p.Y126fs*11(2)|p.P128fs*42(2)|p.S34C(2)|p.Y126fs*44(2)|p.Y126S(2)|p.Y126fs*18(2)|p.S127fs*36(2)|p.Y126Y(1)|p.S127S(1)|p.T125_Y126insX(1)|p.V73fs*9(1)|p.S127fs*43(1)|p.S127fs*22(1)|p.Y126_S127insQPHH(1)|p.S34F(1)|p.?(1)|p.A36fs*20(1)|p.P13fs*18(1)|p.P128fs*18(1)|p.Y126fs*24(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)		GAGGGCAGGGGAGTACTGTAG	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	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)			15	20					0	0	1	0	0	A	7578550	G	A	7578550	3	1	17	1	0	0	0	0	1	0	0	0	16378	1174	41	3	918	3	TP53	17	7578550	Missense_Mutation	SNP	G	TCGA-CS-6667-01A-12D-2024-08		7578550	73616660	19	736											
SMARCA4	6597	broad.mit.edu	37	chr19	11143993	11143993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcgcaggaccgagcccacCgcatcgggcagcagaacgag	12	1	14	14	5	0	1	0	0	0	1	1	4	0	2	3	2	4	4	3	2	2	0			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr19:11143993C>T	uc010dxp.3	+	26	3934	c.3574C>T	c.(3574-3576)Cgc>Tgc	p.R1192C	SMARCA4_uc010dxo.3_Missense_Mutation_p.R1192C|SMARCA4_uc002mqf.4_Missense_Mutation_p.R1192C|SMARCA4_uc010dxq.3_Missense_Mutation_p.R1192C|SMARCA4_uc010dxr.3_Missense_Mutation_p.R1192C|SMARCA4_uc002mqj.4_Missense_Mutation_p.R1192C|SMARCA4_uc010dxs.3_Missense_Mutation_p.R1192C|SMARCA4_uc010dxt.1_Missense_Mutation_p.R412C|SMARCA4_uc002mqh.4_Missense_Mutation_p.R315C|SMARCA4_uc002mqi.1_Missense_Mutation_p.R395C	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	1192	Helicase C-terminal.				chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.R1192C(2)|p.H1191R(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGAGCCCACCGCATCGGGCA	0.607			"F, N, Mis"		NSCLC								8	42					0	0	1	0	0	T	11143993	C	T	11143993	3	4	17	1	0	0	0	0	1	0	0	0	14770	652	23	2	3672	2	SMARCA4	19	11143993	Missense_Mutation	SNP	C	TCGA-CS-6667-01A-12D-2024-08		11143993	47984990	20	737											
CASP14	23581	broad.mit.edu	37	chr19	15166067	15166067	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catacacagatgccttgcacGtttattccacggtagagggt	10	11	10	10	2	0	2	0	0	0	2	1	2	1	2	2	2	3	3	2	2	3	6	rs148526551		TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr19:15166067G>A	uc010dzv.2	+	4	714	c.502G>A	c.(502-504)Gtt>Att	p.V168I		NM_012114	NP_036246	P31944	CASPE_HUMAN	Homo sapiens caspase 14, apoptosis-related cysteine peptidase (CASP14), mRNA.	168					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						TGCCTTGCACGTTTATTCCAC	0.547													4	48					0	0	1	0	0	A	15166067	G	A	15166067	3	1	17	1	0	0	0	0	1	0	0	0	2670	1145	40	1	516	1	CASP14	19	15166067	Missense_Mutation	SNP	G	TCGA-CS-6667-01A-12D-2024-08	4022074	15166067	43962916	21	738											
WDR62	284403	broad.mit.edu	37	chr19	36572456	36572456	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctgattctcactggcagaAaaacatcttcagcaatgtga	13	10	7	11	0	3	3	2	2	2	1	4	3	3	3	1	1	2	2	1	1	3	2			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr19:36572456A>T	uc002odd.2	+	9	1446	c.1355A>T	c.(1354-1356)aAa>aTa	p.K452I	WDR62_uc002odc.2_Missense_Mutation_p.K452I	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	452					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CACTGGCAGAAAAACATCTTC	0.473													19	79					0	0	1	0	0	T	36572456	A	T	36572456	3	4	17	1	0	0	0	0	1	0	0	0	17310	14	1	5	1393	5	WDR62	19	36572456	Missense_Mutation	SNP	A	TCGA-CS-6667-01A-12D-2024-08	21406389	36572456	22556527	22	739											
IL17REL	400935	broad.mit.edu	37	chr22	50435799	50435799	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcgttggcaggcagggaGctgtgacttcctcctgtgac	5	11	15	10	1	0	2	0	2	0	0	2	3	2	3	2	3	2	4	2	3	0	2			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr22:50435799G>A	uc003bje.1	-	12	1156	c.924C>T	c.(922-924)agC>agT	p.S308S		NM_001001694	NP_001001694	Q6ZVW7	I17EL_HUMAN	Homo sapiens interleukin 17 receptor E-like (IL17REL), mRNA.	308										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CAGGCAGGGAGCTGTGACTTC	0.667													5	29					0	0	1	0	0	A	50435799	G	A	50435799	2	1	17	1	0	0	0	0	0	0	0	1	7644	962	34	3		3	IL17REL	22	50435799	Silent	SNP	G	TCGA-CS-6667-01A-12D-2024-08		50435799	868767	23	740											
WWC3	55841	broad.mit.edu	37	chrX	10106879	10106879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctccgtgagctgcggcagcGgttggaggacgcccagctcc	5	6	15	15	4	0	1	0	1	0	0	2	3	2	3	4	4	4	4	4	4	0	1			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chrX:10106879G>A	uc004csx.4	+	20	3185	c.2987G>A	c.(2986-2988)cGg>cAg	p.R996Q	WWC3_uc010nds.3_Missense_Mutation_p.R660Q|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	996										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CTGCGGCAGCGGTTGGAGGAC	0.701													10	20					0	0	1	0	0	A	10106879	G	A	10106879	3	1	17	1	0	0	0	0	1	0	0	0	17410	1116	39	2	3065	2	WWC3	23	10106879	Missense_Mutation	SNP	G	TCGA-CS-6667-01A-12D-2024-08		10106879	145163681	24	741											
POLA1	5422	broad.mit.edu	37	chrX	24753561	24753561	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagaaagaacactgctaggtTttttccttgcaaaagttcac	13	12	7	9	0	1	2	1	0	0	2	2	2	2	2	1	1	3	4	1	1	5	6			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chrX:24753561T>A	uc004dbl.3	+	17	1876	c.1861T>A	c.(1861-1863)Ttt>Att	p.F621I		NM_016937	NP_058633	P09884	DPOLA_HUMAN	Homo sapiens polymerase (DNA directed), alpha 1, catalytic subunit (POLA1), mRNA.	621					DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell proliferation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|regulation of transcription involved in G1/S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	ACTGCTAGGTTTTTTCCTTGC	0.393													25	55					0	0	1	0	0	A	24753561	T	A	24753561	3	1	17	1	0	0	0	0	1	0	0	0	12187	1841	64	5	1931	5	POLA1	23	24753561	Missense_Mutation	SNP	T	TCGA-CS-6667-01A-12D-2024-08	14646682	24753561	130516999	25	742											
DCAF8L1	139425	broad.mit.edu	37	chrX	27999088	27999088	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggttggtgccaccgcatcGtggacacatccgaggctgtt	7	10	13	11	3	0	0	0	0	0	0	2	2	1	1	3	4	1	4	3	4	0	2			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chrX:27999088G>A	uc004dbx.1	-	0	479	c.364C>T	c.(364-366)Cga>Tga	p.R122*		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	122										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CCACCGCATCGTGGACACATC	0.547													14	27					0	0	1	0	0	A	27999088	G	A	27999088	4	1	17	1	0	0	0	0	0	1	0	0	4277	1153	40	1	1442	1	DCAF8L1	23	27999088	Nonsense_Mutation	SNP	G	TCGA-CS-6667-01A-12D-2024-08	3245527	27999088	127271472	26	743											
ZNF157	7712	broad.mit.edu	37	chrX	47272249	47272249	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaccttttctgagaaggcAaccctcacgattcatcagag	14	9	7	11	1	4	2	3	1	1	2	4	4	4	2	2	1	2	1	2	1	4	3			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chrX:47272249A>C	uc004dhr.1	+	3	846	c.777A>C	c.(775-777)gcA>gcC	p.A259A		NM_003446	NP_003437	P51786	ZN157_HUMAN	Homo sapiens zinc finger protein 157 (ZNF157), mRNA.	259					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						CTGAGAAGGCAACCCTCACGA	0.438													7	27					0	0	1	0	0	C	47272249	A	C	47272249	2	2	17	1	0	0	0	0	0	0	0	1	17734	117	5	5		5	ZNF157	23	47272249	Silent	SNP	A	TCGA-CS-6667-01A-12D-2024-08	19273161	47272249	107998311	27	744											
KCND1	3750	broad.mit.edu	37	chrX	48826090	48826090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attggcgatgaccgacacggCgatgaagaagccggtcacat	12	6	13	10	5	1	3	1	2	0	1	1	6	1	3	2	3	1	0	2	3	2	1			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chrX:48826090C>T	uc004dlx.1	-	0	2162	c.589G>A	c.(589-591)Gcc>Acc	p.A197T	KCND1_uc004dlw.1_5'Flank	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 1 (KCND1), mRNA.	197						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						ACCGACACGGCGATGAAGAAG	0.642													10	8					0	0	1	0	0	T	48826090	C	T	48826090	3	4	17	1	0	0	0	0	1	0	0	0	8018	768	27	1	1378	1	KCND1	23	48826090	Missense_Mutation	SNP	C	TCGA-CS-6667-01A-12D-2024-08	1553841	48826090	106444470	28	745											
PRAMEF1	65121	broad.mit.edu	37	chr1	12853498	12853498	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctatctcccactcttcaTggaggccttcagcaggagac	8	10	9	14	0	5	1	2	0	3	1	6	3	5	2	2	3	1	2	2	3	1	3	rs149824309		TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr1:12853498T>G	uc001auj.2	+	1	225	c.122T>G	c.(121-123)aTg>aGg	p.M41R		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	41										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|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;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCACTCTTCATGGAGGCCTTC	0.587													103	36					0	0	0.048971	0	0	G	12853498	T	G	12853498	3	3	18	1	0	0	0	0	1	0	0	0	12425	1464	51	5	124	5	PRAMEF1	1	12853498	Missense_Mutation	SNP	T	TCGA-CS-6668-01A-11D-1893-08		12853498	236397123	1	746											
PKP1	5317	broad.mit.edu	37	chr1	201282317	201282317	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tacaatggaaccctcaagcgGgagcctgacaacaggcgctt	12	6	11	12	2	1	1	1	1	0	0	1	3	1	3	2	3	5	1	2	3	5	2			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr1:201282317G>A	uc001gwd.3	+	2	581	c.330G>A	c.(328-330)cgG>cgA	p.R110R	PKP1_uc001gwe.3_Silent_p.R110R|PKP1_uc009wzm.3_5'UTR	NM_000299	NP_000290	Q13835	PKP1_HUMAN	Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) (PKP1), transcript variant 1b, mRNA.	110					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CCCTCAAGCGGGAGCCTGACA	0.592													6	4					0	0	0.021553	0	0	A	201282317	G	A	201282317	2	1	18	1	0	0	0	0	0	0	0	1	11984	1219	43	3		3	PKP1	1	201282317	Silent	SNP	G	TCGA-CS-6668-01A-11D-1893-08	188428819	201282317	47968304	2	747											
RNF103	7844	broad.mit.edu	37	chr2	86831209	86831209	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggccaagttaaccaatcaggTtccatatcttcattagtgtt	11	14	7	9	0	3	0	2	0	1	0	4	0	4	0	3	2	1	3	3	2	5	6			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr2:86831209T>C	uc002srn.3	-	3	2806	c.1815A>G	c.(1813-1815)gaA>gaG	p.E605E	RNF103_uc010ytl.2_Intron|RNF103_uc002srm.3_Silent_p.E466E|RNF103_uc021vkg.1_Silent_p.E601E|BC066991_uc002sro.3_Non-coding_Transcript	NM_005667	NP_005658	O00237	RN103_HUMAN	Homo sapiens ring finger protein 103 (RNF103), transcript variant 1, mRNA.	605					ER-associated protein catabolic process|central nervous system development	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						ACCAATCAGGTTCCATATCTT	0.413													92	151					0	0	0.048971	0	0	C	86831209	T	C	86831209	2	2	18	1	0	0	0	0	0	0	0	1	13423	1722	60	3		3	RNF103	2	86831209	Silent	SNP	T	TCGA-CS-6668-01A-11D-1893-08		86831209	156368164	3	748											
LRP1B	53353	broad.mit.edu	37	chr2	142567938	142567938	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagtcacgtgatcgtggcAaagaaattcaccaggatcac	15	7	9	10	2	3	2	3	1	0	1	4	3	3	3	1	2	0	1	1	2	3	1			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr2:142567938A>G	uc002tvj.1	-	1	1087	c.115T>C	c.(115-117)Tgc>Cgc	p.C39R	LRP1B_uc010fnl.1_Missense_Mutation_p.C76R	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	39	LDL-receptor class A 1.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGATCGTGGCAAAGAAATTCA	0.443										TSP Lung(27;0.18)			22	16					0	0	0.062417	0	0	G	142567938	A	G	142567938	3	3	18	1	0	0	0	0	1	0	0	0	8955	130	5	3	14044	3	LRP1B	2	142567938	Missense_Mutation	SNP	A	TCGA-CS-6668-01A-11D-1893-08	55736729	142567938	100631435	4	749											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								32	34					0	0	0.041601	0	0	T	209113112	C	T	209113112	3	4	18	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CS-6668-01A-11D-1893-08	66545174	209113112	34086261	5	750											
FBXO36	130888	broad.mit.edu	37	chr2	230861511	230861511	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaatattagactatgtcAtcaatttgtgcaaaggtaaa	17	12	7	5	0	2	2	2	0	0	2	2	2	2	2	0	1	1	2	0	1	9	5			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr2:230861511A>G	uc010fxi.1	+	2	273	c.250A>G	c.(250-252)Atc>Gtc	p.I84V	FBXO36_uc002vqa.3_Missense_Mutation_p.I84V|FBXO36_uc002vqb.3_Missense_Mutation_p.I53V	NM_174899	NP_777559	Q8NEA4	FBX36_HUMAN	Homo sapiens F-box protein 36 (FBXO36), mRNA.	84										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		AGACTATGTCATCAATTTGTG	0.348													50	69					0	0	0.048971	0	0	G	230861511	A	G	230861511	3	3	18	1	0	0	0	0	1	0	0	0	5745	217	8	3	260	3	FBXO36	2	230861511	Missense_Mutation	SNP	A	TCGA-CS-6668-01A-11D-1893-08	21748399	230861511	12337862	6	751											
NKD2	85409	broad.mit.edu	37	chr5	1038447	1038449	+	In_Frame_Del	DEL	CAC	CAC	-																															agcaccaccaccaccacgagCaccaccaccaccaccaccac																								rs3840989		TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr5:1038447_1038449delCAC	uc003jbt.1	+	9	1320_1322	c.1315_1317delCAC	c.(1315-1317)cacdel	p.H447del	NKD2_uc010itf.1_3'UTR	NM_033120	NP_149111	Q969F2	NKD2_HUMAN	Homo sapiens naked cuticle homolog 2 (Drosophila) (NKD2), mRNA.	447	His-rich.				Wnt receptor signaling pathway|exocytosis	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			ccaccacgagcaccaccaccacc	0.69													2	4	---	---	---	---						-	1038449	CAC	-	1038447	7	5	18	1	0	1	0	1	0	0	0	0	10442	710	25	0	1353	0	NKD2	5	1038447	In_Frame_Del	DEL	CAC	TCGA-CS-6668-01A-11D-1893-08		1038447	179876813	7	752											
PCDHGC5	56097	broad.mit.edu	37	chr5	140764645	140764645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acaagtcacgcctgctgcagGcttcagaaggtggcttggcg	8	8	14	11	2	2	1	2	0	0	1	2	1	2	1	1	4	2	4	1	4	2	2			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr5:140764645G>A	uc003lka.2	+	0	2179	c.2179G>A	c.(2179-2181)Gct>Act	p.A727T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lkb.4_5'Flank|PCDHGC5_uc003lkc.2_5'Flank|PCDHGC5_uc003ljz.1_Missense_Mutation_p.A727T	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.	719					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGCTGCAGGCTTCAGAAGG	0.637													50	42					0	0	0.048971	0	0	A	140764645	G	A	140764645	3	1	18	1	0	0	0	0	1	0	0	0	11571	1203	42	3		3	PCDHGC5	5	140764645	Missense_Mutation	SNP	G	TCGA-CS-6668-01A-11D-1893-08	139726198	140764645	40150615	8	753											
CLIP2	7461	broad.mit.edu	37	chr7	73731911	73731911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcctgaagccccccggccGtggggggaagcactccagcc	6	3	15	17	3	0	1	0	1	0	0	1	2	1	2	7	5	3	1	7	5	2	0	rs151111065	byFrequency	TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr7:73731911G>A	uc003uam.3	+	1	362	c.35G>A	c.(34-36)cGt>cAt	p.R12H	CLIP2_uc003uan.3_Missense_Mutation_p.R12H	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	12						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CCCCCCGGCCGTGGGGGGAAG	0.662													35	102					0	0	0.064281	0	0	A	73731911	G	A	73731911	3	1	18	1	0	0	0	0	1	0	0	0	3533	1145	40	1	37	1	CLIP2	7	73731911	Missense_Mutation	SNP	G	TCGA-CS-6668-01A-11D-1893-08		73731911	85406752	9	754											
SRRM3	222183	broad.mit.edu	37	chr7	75896665	75896665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttccccgtcgggcggcagcgGatgggggtcgccccagcgga	4	5	18	14	6	0	0	0	0	0	0	3	2	1	2	4	6	2	1	4	6	0	1			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr7:75896665G>A	uc010ldi.2	+	10	1129	c.920G>A	c.(919-921)gGa>gAa	p.G307E	SRRM3_uc011kgi.2_5'UTR	NM_001110199	NP_001103669			Homo sapiens serine/arginine repetitive matrix 3 (SRRM3), mRNA.											NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						GGCGGCAGCGGATGGGGGTCG	0.751													3	5					0	0	0.009096	0	0	A	75896665	G	A	75896665	3	1	18	1	0	0	0	0	1	0	0	0	15169	1174	41	3	958	3	SRRM3	7	75896665	Missense_Mutation	SNP	G	TCGA-CS-6668-01A-11D-1893-08	2164754	75896665	83241998	10	755											
DLX5	1749	broad.mit.edu	37	chr7	96650149	96650149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcacttgtgtaccaggatgCagagttctccaggtagctgg	8	11	13	9	0	1	1	0	0	1	1	2	2	1	2	2	3	4	6	2	3	2	4			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr7:96650149C>T	uc003uon.3	-	2	977	c.769G>A	c.(769-771)Gca>Aca	p.A257T		NM_005221	NP_005212	P56178	DLX5_HUMAN	Homo sapiens distal-less homeobox 5 (DLX5), mRNA.	257					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TACCAGGATGCAGAGTTCTCC	0.652													33	32					0	0	0.059317	0	0	T	96650149	C	T	96650149	3	4	18	1	0	0	0	0	1	0	0	0	4574	710	25	3	104	3	DLX5	7	96650149	Missense_Mutation	SNP	C	TCGA-CS-6668-01A-11D-1893-08	20753484	96650149	62488514	11	756											
FAM75C1	441452	broad.mit.edu	37	chr9	90536583	90536583	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctgaaagcccacatgggCagaaagttgggccagaccaa	14	5	11	11	0	0	3	0	1	0	2	1	3	1	3	4	2	1	2	4	2	3	1			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr9:90536583C>T	uc010mqi.3	+	3	1790	c.1761C>T	c.(1759-1761)ggC>ggT	p.G587G	FAM75C1_uc004apq.4_Silent_p.G570G	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		CCCACATGGGCAGAAAGTTGG	0.512													119	116					0	0	0.048971	0	0	T	90536583	C	T	90536583	2	4	18	1	0	0	0	0	0	0	0	1	5623	697	25	3		3	FAM75C1	9	90536583	Silent	SNP	C	TCGA-CS-6668-01A-11D-1893-08		90536583	50676848	12	757											
KIAA0368	23392	broad.mit.edu	37	chr9	114170943	114170943	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccagtgtttggattgctcGttctttcatctggaagaaca	8	15	9	9	1	3	1	1	0	2	1	5	3	4	3	1	2	2	3	1	2	2	4			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr9:114170943G>A	uc004bfe.1	-	24	3094	c.3094C>T	c.(3094-3096)Cga>Tga	p.R1032*		NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TGGATTGCTCGTTCTTTCATC	0.398													11	5					0	0	0.080935	0	0	A	114170943	G	A	114170943	4	1	18	1	0	0	0	0	0	1	0	0	8171	1153	40	1	3067	1	KIAA0368	9	114170943	Nonsense_Mutation	SNP	G	TCGA-CS-6668-01A-11D-1893-08	23634360	114170943	27042488	13	758											
PLCE1	51196	broad.mit.edu	37	chr10	96084175	96084175	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caagcgactatgtgcttttgGaagaggtggtgaaagacact	12	10	13	6	1	0	3	0	1	0	2	0	5	0	4	0	3	2	1	0	3	4	3			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr10:96084175G>A	uc001kjk.3	+	30	7205	c.6571G>A	c.(6571-6573)Gaa>Aaa	p.E2191K	PLCE1_uc010qnx.2_Missense_Mutation_p.E2175K|PLCE1_uc001kjm.3_Missense_Mutation_p.E1883K|PLCE1_uc001kjp.3_Missense_Mutation_p.E549K	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	2191	Ras-associating 2.				Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGTGCTTTTGGAAGAGGTGGT	0.448													124	141					0	0	0.048971	0	0	A	96084175	G	A	96084175	3	1	18	1	0	0	0	0	1	0	0	0	12034	1175	41	3	6975	3	PLCE1	10	96084175	Missense_Mutation	SNP	G	TCGA-CS-6668-01A-11D-1893-08		96084175	39450572	14	759											
LTBP3	4054	broad.mit.edu	37	chr11	65321228	65321228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caggggcttctgggtgggcgGccgggggtgcgagggcttgg	2	7	24	8	3	1	0	0	0	1	0	1	1	1	0	1	9	1	2	1	9	0	2			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr11:65321228G>A	uc001oej.3	-	2	1077	c.808C>T	c.(808-810)Ccg>Tcg	p.P270S	LTBP3_uc010roi.2_Missense_Mutation_p.P153S|LTBP3_uc001oei.3_Missense_Mutation_p.P270S|LTBP3_uc010roj.2_Intron|LTBP3_uc010rok.1_Missense_Mutation_p.P181S|U7_uc021qll.1_5'Flank	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.	270						extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TGGGTGGGCGGCCGGGGGTGC	0.677													3	15					0	0	0.009096	0	0	A	65321228	G	A	65321228	3	1	18	1	0	0	0	0	1	0	0	0	9075	1203	42	3	3207	3	LTBP3	11	65321228	Missense_Mutation	SNP	G	TCGA-CS-6668-01A-11D-1893-08		65321228	69685288	15	760											
UNC93B1	81622	broad.mit.edu	37	chr11	67764189	67764189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcagctggaagatgttgcCccagcccacgctgcgcagat	8	6	14	13	2	0	2	0	0	0	2	0	3	0	3	3	2	4	5	3	2	1	1			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr11:67764189C>T	uc001omw.1	-	8	1050	c.970G>A	c.(970-972)Ggc>Agc	p.G324S		NM_030930	NP_112192	Q9H1C4	UN93B_HUMAN	Homo sapiens unc-93 homolog B1 (C. elegans) (UNC93B1), mRNA.	325					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome											AAGATGTTGCCCCAGCCCACG	0.622													3	2					0	0	0.009096	0	0	T	67764189	C	T	67764189	3	4	18	1	0	0	0	0	1	0	0	0	16994	623	22	3	836	3	UNC93B1	11	67764189	Missense_Mutation	SNP	C	TCGA-CS-6668-01A-11D-1893-08	2442961	67764189	67242327	16	761											
NCAM1	4684	broad.mit.edu	37	chr11	113102455	113102456	+	In_Frame_Ins	INS	-	-	CCCTCT																															tacactgatgccggagagtaINScatctgcaccgccagcaaca																										TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr11:113102455_113102456insCCCTCT	uc021qqp.1	+	10	1622_1623	c.1250_1251insCCCTCT	c.(1249-1251)tac>taCCCTCTc	p.417_418insPL	NCAM1_uc001pnp.3_In_Frame_Ins_p.381_382insPL|NCAM1_uc021qqo.1_In_Frame_Ins_p.381_382insPL|NCAM1_uc001pnq.3_In_Frame_Ins_p.391_392insPL|NCAM1_uc001pnr.3_In_Frame_Ins_p.381_382insPL	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	393	Ig-like C2-type 5.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GCCGGAGAGTACATCTGCACCG	0.594													9	113	---	---	---	---						CCCTCT	113102456	-	CCCTCT	113102455	7	5	18	1	0	1	1	0	0	0	0	0	10202	391	14	0	1217	0	NCAM1	11	113102455	In_Frame_Ins	INS	-	TCGA-CS-6668-01A-11D-1893-08	45338266	113102455	21904061	17	762											
NT5DC3	51559	broad.mit.edu	37	chr12	104179169	104179169	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaggtcatggtttgaatgtAttgctccgtgttcatgattt	7	17	10	7	1	2	2	2	2	0	0	3	2	3	2	2	2	1	4	2	2	2	5			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr12:104179169A>G	uc010swe.1	-	11	1314	c.1273T>C	c.(1273-1275)Tac>Cac	p.Y425H		NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN	Homo sapiens 5'-nucleotidase domain containing 3 (NT5DC3), mRNA.	425							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						GTTTGAATGTATTGCTCCGTG	0.428													45	47					0	0	0.045515	0	0	G	104179169	A	G	104179169	3	3	18	1	0	0	0	0	1	0	0	0	10692	449	16	3	385	3	NT5DC3	12	104179169	Missense_Mutation	SNP	A	TCGA-CS-6668-01A-11D-1893-08		104179169	29672726	18	763											
TCP11L2	255394	broad.mit.edu	37	chr12	106729466	106729466	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagaatctgtaaatgaagaAttattttctctttctgagag	15	15	7	4	0	3	4	0	2	3	3	4	5	3	4	0	0	0	1	0	0	7	5			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr12:106729466A>C	uc001tln.3	+	6	996	c.822A>C	c.(820-822)gaA>gaC	p.E274D		NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	Homo sapiens t-complex 11 (mouse)-like 2 (TCP11L2), mRNA.	274										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						TAAATGAAGAATTATTTTCTC	0.398													33	36					0	0	0.045705	0	0	C	106729466	A	C	106729466	3	2	18	1	0	0	0	0	1	0	0	0	15712	98	4	5	844	5	TCP11L2	12	106729466	Missense_Mutation	SNP	A	TCGA-CS-6668-01A-11D-1893-08	2550297	106729466	27122429	19	764											
TCF12	6938	broad.mit.edu	37	chr15	57523456	57523457	+	Splice_Site	INS	-	-	T																															agcactttctttatgcaaggINStaagtactaccaaacaattg																										TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr15:57523456_57523457insT	uc002aec.3	+	9	969	c.685_splice	c.e9+1	p.D229_splice	TCF12_uc010ugm.1_Splice_Site_p.D281_splice|TCF12_uc010ugn.1_Splice_Site_p.D225_splice|TCF12_uc002aea.3_Splice_Site_p.D229_splice|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Splice_Site_p.D229_splice|TCF12_uc002aed.3_Splice_Site_p.D229_splice|TCF12_uc010ugo.2_Splice_Site_p.K39_splice|TCF12_uc002aee.3_Splice_Site_p.D59_splice|TCF12_uc010bft.3_Splice_Site_p.D59_splice	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	229					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TTTATGCAAGGTAAGTACTACC	0.386			T	TEC	extraskeletal myxoid chondrosarcoma								43	59	---	---	---	---						T	57523457	-	T	57523456	8	5	18	1	0	1	1	0	0	0	1	0	15684	1275	44	0	789	0	TCF12	15	57523456	Splice_Site	INS	-	TCGA-CS-6668-01A-11D-1893-08		57523456	45007936	20	765											
POLG	5428	broad.mit.edu	37	chr15	89864982	89864982	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catacccgggcattgctggcGgtgagccatgtgggctccac	6	8	14	13	2	0	1	0	1	0	0	1	1	1	1	3	4	3	3	3	4	1	2			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr15:89864982G>A	uc002bns.4	-	15	2865	c.2583C>T	c.(2581-2583)acC>acT	p.T861T	POLG_uc002bnr.4_Silent_p.T861T	NM_002693	NP_002684	P54098	DPOG1_HUMAN	Homo sapiens polymerase (DNA directed), gamma (POLG), transcript variant 1, mRNA.	861					DNA-dependent DNA replication|base-excision repair, gap-filling|cell death	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CATTGCTGGCGGTGAGCCATG	0.602								DNA polymerases (catalytic subunits)					49	65					0	0	0.048971	0	0	A	89864982	G	A	89864982	2	1	18	1	0	0	0	0	0	0	0	1	12200	1103	39	2		2	POLG	15	89864982	Silent	SNP	G	TCGA-CS-6668-01A-11D-1893-08	32341526	89864982	12666410	21	766											
KRT34	3885	broad.mit.edu	37	chr17	39538275	39538275	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgtcccgctccagctgaCgcaccttctccaggtagctg	5	10	10	16	3	1	1	0	1	1	0	4	1	3	1	4	1	2	6	4	1	1	3			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr17:39538275C>T	uc002hwm.3	-	0	362	c.350G>A	c.(349-351)cGt>cAt	p.R117H		NM_021013	NP_066293	O76011	KRT34_HUMAN	Homo sapiens keratin 34 (KRT34), mRNA.	117	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CTCCAGCTGACGCACCTTCTC	0.597													78	120					0	0	0.048971	0	0	T	39538275	C	T	39538275	3	4	18	1	0	0	0	0	1	0	0	0	8471	536	19	1	988	1	KRT34	17	39538275	Missense_Mutation	SNP	C	TCGA-CS-6668-01A-11D-1893-08		39538275	41656935	22	767											
DSG2	1829	broad.mit.edu	37	chr18	29102122	29102122	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgaaaatttcctatagaatCgtatctctggagcctgctta	11	14	7	9	2	1	1	0	0	1	1	5	3	2	2	2	1	2	2	2	1	7	5			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr18:29102122C>T	uc002kwu.4	+	5	788	c.600C>T	c.(598-600)atC>atT	p.I200I		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	200	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CCTATAGAATCGTATCTCTGG	0.378													17	41					0	0	0.028581	0	0	T	29102122	C	T	29102122	2	4	18	1	0	0	0	0	0	0	0	1	4777	874	31	2		2	DSG2	18	29102122	Silent	SNP	C	TCGA-CS-6668-01A-11D-1893-08		29102122	48975126	23	768											
KCNG2	26251	broad.mit.edu	37	chr18	77624219	77624219	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcgcctgcgtgtccgtGtccttcgtggccgtcacggc	1	12	12	16	6	2	0	1	0	1	0	6	0	4	0	4	2	1	0	4	2	0	2			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr18:77624219G>A	uc010xfl.2	+	0	552	c.552G>A	c.(550-552)gtG>gtA	p.V184V		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.	184					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GCGTGTCCGTGTCCTTCGTGG	0.766													14	33					0	0	0.024245	0	0	A	77624219	G	A	77624219	2	1	18	1	0	0	0	0	0	0	0	1	8028	1364	48	3		3	KCNG2	18	77624219	Silent	SNP	G	TCGA-CS-6668-01A-11D-1893-08	48522097	77624219	453029	24	769											
CD97	976	broad.mit.edu	37	chr19	14508025	14508025	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaatggcccaaacaatacCgtctgtgaaggtcgagagct	12	7	10	12	2	1	2	0	1	1	1	2	3	1	2	3	2	3	1	3	2	5	1			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr19:14508025C>T	uc002myl.3	+	5	995	c.615C>T	c.(613-615)acC>acT	p.T205T	CD97_uc002mym.3_Intron|CD97_uc002myn.3_Intron	NM_078481	NP_510966	P48960	CD97_HUMAN	Homo sapiens CD97 molecule (CD97), transcript variant 1, mRNA.	205	EGF-like 4; calcium-binding (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CAAACAATACCGTCTGTGAAG	0.587													96	130					0	0	0.048971	0	0	T	14508025	C	T	14508025	2	4	18	1	0	0	0	0	0	0	0	1	3049	639	23	2		2	CD97	19	14508025	Silent	SNP	C	TCGA-CS-6668-01A-11D-1893-08		14508025	44620958	25	770											
CIC	23152	broad.mit.edu	37	chr19	42795074	42795075	+	Frame_Shift_Ins	INS	-	-	G																															gcactgggtctcgggtgcctINSgggggctccccgctgggtgt																										TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr19:42795074_42795075insG	uc002otf.1	+	9	2194_2195	c.2154_2155insG	c.(2152-2157)cctgggfs	p.P718fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	718	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CTCGGGTGCCTGGGGGCTCCCC	0.644			"Mis, F, S"		oligodendroglioma								12	8	---	---	---	---						G	42795075	-	G	42795074	7	5	18	1	0	1	1	0	0	0	0	0	3424	1567	55	0	2192	0	CIC	19	42795074	Frame_Shift_Ins	INS	-	TCGA-CS-6668-01A-11D-1893-08	28287049	42795074	16333909	26	771											
ARFGEF2	10564	broad.mit.edu	37	chr20	47626800	47626800	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgggacatggcgatccgcTgcattgcccagatggtgaac	8	8	13	12	3	0	2	0	1	0	1	2	4	2	3	3	3	3	2	3	3	1	1			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr20:47626800T>C	uc002xtx.4	+	26	3768	c.3616T>C	c.(3616-3618)Tgc>Cgc	p.C1206R	ARFGEF2_uc010zyf.2_Missense_Mutation_p.C499R	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	1206					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GGCGATCCGCTGCATTGCCCA	0.537													27	83					0	0	0.0918	0	0	C	47626800	T	C	47626800	3	2	18	1	0	0	0	0	1	0	0	0	853	1580	55	4	3722	4	ARFGEF2	20	47626800	Missense_Mutation	SNP	T	TCGA-CS-6668-01A-11D-1893-08		47626800	15398720	27	772											
VSIG4	11326	broad.mit.edu	37	chrX	65247365	65247365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggactgcttcactgtagatGttgctatgaatatagagaat	13	13	10	5	0	1	3	1	1	0	2	1	5	1	4	0	1	2	4	0	1	6	6			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chrX:65247365G>A	uc004dwh.2	-	4	888	c.761C>T	c.(760-762)aCa>aTa	p.T254I	VSIG4_uc004dwi.2_Missense_Mutation_p.T160I|VSIG4_uc004dwj.3_Missense_Mutation_p.T254I|VSIG4_uc011moy.2_Missense_Mutation_p.T160I	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 4 (VSIG4), transcript variant 1, mRNA.	254					complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CACTGTAGATGTTGCTATGAA	0.468													8	14					0	0	0.038147	0	0	A	65247365	G	A	65247365	3	1	18	1	0	0	0	0	1	0	0	0	17222	1377	48	3	458	3	VSIG4	23	65247365	Missense_Mutation	SNP	G	TCGA-CS-6668-01A-11D-1893-08		65247365	90023195	28	773											
LGI2	55203	broad.mit.edu	37	chr4	25005303	25005303	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgattatctttaaaagaaaAgggctgcagggtcatggccc	12	10	12	7	0	2	2	1	1	1	1	2	2	2	2	1	3	1	2	1	3	5	3			TCGA-CS-6669-01A-11D-1893-08	TCGA-CS-6669-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218a9531-9264-43bc-8535-858d4cb0919e	4bc99b08-8b67-443e-88a4-03edef39d433	g.chr4:25005303A>G	uc003grf.2	-	7	1507	c.1408T>C	c.(1408-1410)Ttt>Ctt	p.F470L		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	470						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TTAAAAGAAAAGGGCTGCAGG	0.488													3	137					0	0	0.004672	0	0	G	25005303	A	G	25005303	3	3	19	1	0	0	0	0	1	0	0	0	8752	72	3	4	233	4	LGI2	4	25005303	Missense_Mutation	SNP	A	TCGA-CS-6669-01A-11D-1893-08		25005303	166148973	1	774											
MOCS1	4337	broad.mit.edu	37	chr6	39893572	39893572	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggtcagcgggaccccctcctCgggcatgcagtactgacctg	6	7	13	15	2	1	1	1	1	0	0	3	2	2	2	4	3	3	3	4	3	1	1	rs147580725		TCGA-CS-6669-01A-11D-1893-08	TCGA-CS-6669-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218a9531-9264-43bc-8535-858d4cb0919e	4bc99b08-8b67-443e-88a4-03edef39d433	g.chr6:39893572C>G	uc003opb.3	-	1	406	c.268G>C	c.(268-270)Gag>Cag	p.E90Q	MOCS1_uc003opa.3_Missense_Mutation_p.E90Q|MOCS1_uc003opd.3_Missense_Mutation_p.E90Q|MOCS1_uc003ope.3_Missense_Mutation_p.E3Q	NM_005943	NP_005934	Q9NZB8	MOCS1_HUMAN	Homo sapiens molybdenum cofactor synthesis 1 (MOCS1), transcript variant 1, mRNA.	90	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|GTP binding|catalytic activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					ACCCCCTCCTCGGGCATGCAG	0.612													3	94					0	0	0.004672	0	0	G	39893572	C	G	39893572	3	3	19	1	0	0	0	0	1	0	0	0	9690	893	31	5	921	5	MOCS1	6	39893572	Missense_Mutation	SNP	C	TCGA-CS-6669-01A-11D-1893-08		39893572	131221495	2	775											
LRP1	4035	broad.mit.edu	37	chr12	57577587	57577587	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccatctactgggtggacatgGgcctgagcacgatcagccgg	8	7	14	12	2	2	1	1	1	1	0	2	3	2	2	3	4	3	1	3	4	1	1			TCGA-CS-6669-01A-11D-1893-08	TCGA-CS-6669-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218a9531-9264-43bc-8535-858d4cb0919e	4bc99b08-8b67-443e-88a4-03edef39d433	g.chr12:57577587G>T	uc001snd.3	+	35	6290	c.5824G>T	c.(5824-5826)Ggc>Tgc	p.G1942C		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1942					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGTGGACATGGGCCTGAGCAC	0.577													4	62					0.00024832	0.00148992	0.009096	1	0	T	57577587	G	T	57577587	3	4	19	1	0	0	0	0	1	0	0	0	8951	1232	43	5	5966	5	LRP1	12	57577587	Missense_Mutation	SNP	G	TCGA-CS-6669-01A-11D-1893-08		57577587	76274308	3	776											
YY1	7528	broad.mit.edu	37	chr14	100743846	100743846	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagacaggccctatgtgtGccccttcgatggttgtaata	8	11	12	10	2	0	1	0	0	0	1	1	3	0	1	3	3	1	2	3	3	3	5			TCGA-CS-6669-01A-11D-1893-08	TCGA-CS-6669-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218a9531-9264-43bc-8535-858d4cb0919e	4bc99b08-8b67-443e-88a4-03edef39d433	g.chr14:100743846G>T	uc001ygy.1	+	4	1634	c.1154G>T	c.(1153-1155)tGc>tTc	p.C385F	BC014138_uc001ygz.2_5'Flank	NM_003403	NP_003394	P25490	TYY1_HUMAN	Homo sapiens YY1 transcription factor (YY1), mRNA.	385	Involved in masking transactivation domain.				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	p.C385F(2)		cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				CCCTATGTGTGCCCCTTCGAT	0.463													7	69					2.7689e-08	1.93823e-07	0.02938	1	0	T	100743846	G	T	100743846	3	4	19	1	0	0	0	0	1	0	0	0	17504	1319	46	5	1172	5	YY1	14	100743846	Missense_Mutation	SNP	G	TCGA-CS-6669-01A-11D-1893-08		100743846	6605694	4	777											
SLC30A2	7780	broad.mit.edu	37	chr1	26371659	26371659	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caagtccaggccaggtcgggGcagaggaatccagccagccc	10	3	14	14	1	0	1	0	0	0	1	3	2	2	2	5	5	2	1	5	5	2	0			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr1:26371659G>C	uc001blg.1	-	1	317	c.100C>G	c.(100-102)Ccc>Gcc	p.P34A	SLC30A2_uc001blh.1_Missense_Mutation_p.P34A	NM_001004434	NP_001004434	Q9BRI3	ZNT2_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 2 (SLC30A2), transcript variant 1, mRNA.	34					positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity			cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGTCGGGGCAGAGGAATC	0.597													24	50					0	0	1	0	0	C	26371659	G	C	26371659	3	2	20	1	0	0	0	0	1	0	0	0	14555	1203	42	5	1046	5	SLC30A2	1	26371659	Missense_Mutation	SNP	G	TCGA-DB-5273-01A-01D-1468-08		26371659	222878962	1	778											
ROR1	4919	broad.mit.edu	37	chr1	64515592	64515592	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacacaggctacttccagtgCgtggcaacaaacggcaagga	13	5	12	11	2	0	0	0	0	0	0	1	2	1	1	1	4	4	3	1	4	4	2	rs148616064		TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr1:64515592C>T	uc001dbj.2	+	2	792	c.393C>T	c.(391-393)tgC>tgT	p.C131C	ROR1_uc001dbi.4_Silent_p.C131C	NM_005012	NP_005003	Q01973	ROR1_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA.	131	Ig-like C2-type.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						ACTTCCAGTGCGTGGCAACAA	0.567													44	81					0	0	1	0	0	T	64515592	C	T	64515592	2	4	20	1	0	0	0	0	0	0	0	1	13526	776	27	1		1	ROR1	1	64515592	Silent	SNP	C	TCGA-DB-5273-01A-01D-1468-08	38143933	64515592	184735029	2	779											
HFM1	164045	broad.mit.edu	37	chr1	91818120	91818120	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtttcactgtactcttcAaacagtcctccagcataatg	10	14	5	12	0	4	0	2	0	2	0	6	0	6	0	2	0	3	3	2	0	3	4			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr1:91818120A>G	uc001doa.4	-	15	2019	c.1920T>C	c.(1918-1920)ttT>ttC	p.F640F	HFM1_uc009wdb.3_Non-coding_Transcript|HFM1_uc010osu.2_Silent_p.F319F|HFM1_uc010osv.1_Silent_p.F324F	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	640	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TGTACTCTTCAAACAGTCCTC	0.358													19	99					0	0	1	0	0	G	91818120	A	G	91818120	2	3	20	1	0	0	0	0	0	0	0	1	7083	127	5	3		3	HFM1	1	91818120	Silent	SNP	A	TCGA-DB-5273-01A-01D-1468-08	27302528	91818120	157432501	3	780											
PGLYRP4	57115	broad.mit.edu	37	chr1	153313006	153313006	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagagtcatcctgggacaGtgggtctccctggctcccca	6	8	14	13	0	2	1	1	0	1	1	5	3	4	2	4	4	0	1	4	4	0	0			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr1:153313006G>C	uc001fbo.3	-	6	740	c.675C>G	c.(673-675)caC>caG	p.H225Q	PGLYRP4_uc001fbp.3_Missense_Mutation_p.H221Q	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	225					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCTGGGACAGTGGGTCTCCC	0.602													8	88					0	0	1	0	0	C	153313006	G	C	153313006	3	2	20	1	0	0	0	0	1	0	0	0	11796	1020	36	5	458	5	PGLYRP4	1	153313006	Missense_Mutation	SNP	G	TCGA-DB-5273-01A-01D-1468-08	61494886	153313006	95937615	4	781											
GPR45	11250	broad.mit.edu	37	chr2	105858978	105858978	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacatgtgcatcctcaacacGgtccgcaagaacgccgtgcg	10	7	10	14	5	1	1	1	0	0	1	3	1	3	1	3	1	5	2	3	1	4	1	rs141451236		TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr2:105858978G>A	uc002tco.1	+	0	779	c.663G>A	c.(661-663)acG>acA	p.T221T		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	Homo sapiens G protein-coupled receptor 45 (GPR45), mRNA.	221						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TCCTCAACACGGTCCGCAAGA	0.677													25	62					0	0	1	0	0	A	105858978	G	A	105858978	2	1	20	1	0	0	0	0	0	0	0	1	6696	1103	39	2		2	GPR45	2	105858978	Silent	SNP	G	TCGA-DB-5273-01A-01D-1468-08		105858978	137340395	5	782											
NEB	4703	broad.mit.edu	37	chr2	152406213	152406213	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagtgtcacctggaagtctAtatccagtgggcagggtgcg	8	9	16	8	1	2	0	1	0	1	0	3	2	3	2	2	4	1	1	2	4	3	2			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr2:152406213A>G	uc021vrb.1	-	100	14912	c.14883T>C	c.(14881-14883)taT>taC	p.Y4961Y	NEB_uc002txr.3_Silent_p.Y1427Y|NEB_uc002txu.3_Silent_p.Y6662Y|NEB_uc021vrc.1_Silent_p.Y6662Y|NEB_uc010fnx.3_Silent_p.Y4949Y|NEB_uc021vrd.1_Silent_p.Y4961Y	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4961					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGGAAGTCTATATCCAGTGG	0.488													4	22					0	0	1	0	0	G	152406213	A	G	152406213	2	3	20	1	0	0	0	0	0	0	0	1	10302	456	16	3		3	NEB	2	152406213	Silent	SNP	A	TCGA-DB-5273-01A-01D-1468-08	46547235	152406213	90793160	6	783											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								28	72					0	0	1	0	0	T	209113112	C	T	209113112	3	4	20	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-5273-01A-01D-1468-08	56706899	209113112	34086261	7	784											
SNED1	25992	broad.mit.edu	37	chr2	241969887	241969887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgccgagccacggaggacGtcaggcactacttccccgag	8	5	13	15	5	1	0	1	0	0	0	2	4	2	2	4	3	3	1	4	3	1	2			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr2:241969887G>A	uc002wah.1	+	1	400	c.400G>A	c.(400-402)Gtc>Atc	p.V134I		NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	134	NIDO.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CACGGAGGACGTCAGGCACTA	0.627													6	22					0	0	1	0	0	A	241969887	G	A	241969887	3	1	20	1	0	0	0	0	1	0	0	0	14845	1145	40	1	406	1	SNED1	2	241969887	Missense_Mutation	SNP	G	TCGA-DB-5273-01A-01D-1468-08	32856775	241969887	1229486	8	785											
TLR1	7096	broad.mit.edu	37	chr4	38799315	38799315	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttttaattgattcatttGtaaaataagtgtctccaact	12	19	4	6	0	3	1	1	1	2	0	4	1	3	1	1	0	1	1	1	0	5	8			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr4:38799315G>T	uc003gtl.3	-	3	1412	c.1138C>A	c.(1138-1140)Caa>Aaa	p.Q380K	TLR1_uc021xnn.1_Missense_Mutation_p.Q380K	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	380					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TGATTCATTTGTAAAATAAGT	0.343													3	61					1	1	1	1	0	T	38799315	G	T	38799315	3	4	20	1	0	0	0	0	1	0	0	0	15946	1386	48	5	1226	5	TLR1	4	38799315	Missense_Mutation	SNP	G	TCGA-DB-5273-01A-01D-1468-08		38799315	152354961	9	786											
RUFY1	80230	broad.mit.edu	37	chr5	179016595	179016595	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacttcaagaagaacagcagCagttaagagaacaaaatgaa	21	5	8	7	0	1	4	1	1	0	3	1	5	1	4	0	0	4	3	0	0	8	2			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr5:179016595C>T	uc003mka.1	+	8	1075	c.1075C>T	c.(1075-1077)Cag>Tag	p.Q359*	RUFY1_uc003mkb.1_Nonsense_Mutation_p.Q251*|RUFY1_uc003mkc.1_Nonsense_Mutation_p.Q251*|RUFY1_uc003mkd.1_5'Flank	NM_025158	NP_001035542	Q96T51	RUFY1_HUMAN	Homo sapiens RUN and FYVE domain containing 1 (RUFY1), transcript variant 1, mRNA.	359					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAACAGCAGCAGTTAAGAGA	0.353										HNSCC(44;0.11)			25	48					0	0	1	0	0	T	179016595	C	T	179016595	4	4	20	1	0	0	0	0	0	1	0	0	13738	711	25	3	1109	3	RUFY1	5	179016595	Nonsense_Mutation	SNP	C	TCGA-DB-5273-01A-01D-1468-08		179016595	1898665	10	787											
ARMC2	84071	broad.mit.edu	37	chr6	109294621	109294621	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaaactatcacaaactccaTtgggaaacagaattcaaacc	20	7	4	10	0	2	1	2	0	0	1	3	2	3	2	2	1	4	0	2	1	7	3			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr6:109294621T>C	uc003pss.4	+	17	2682	c.2508T>C	c.(2506-2508)caT>caC	p.H836H	ARMC2_uc011eao.2_Silent_p.H671H	NM_032131	NP_115507	Q8NEN0	ARMC2_HUMAN	Homo sapiens armadillo repeat containing 2 (ARMC2), mRNA.	836							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		ACAAACTCCATTGGGAAACAG	0.393													50	70					0	0	1	0	0	C	109294621	T	C	109294621	2	2	20	1	0	0	0	0	0	0	0	1	951	1490	52	3		3	ARMC2	6	109294621	Silent	SNP	T	TCGA-DB-5273-01A-01D-1468-08		109294621	61820446	11	788											
OR2A12	346525	broad.mit.edu	37	chr7	143793006	143793006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcaagccattctcaagaacGgaggaagatcctttccctgt	11	10	9	11	1	2	2	2	0	1	2	5	4	4	4	3	2	2	0	3	2	4	2			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr7:143793006G>A	uc011kty.2	+	0	806	c.806G>A	c.(805-807)cGg>cAg	p.R269Q		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TCTCAAGAACGGAGGAAGATC	0.527													8	335					0	0	1	0	0	A	143793006	G	A	143793006	3	1	20	1	0	0	0	0	1	0	0	0	10975	1116	39	2	808	2	OR2A12	7	143793006	Missense_Mutation	SNP	G	TCGA-DB-5273-01A-01D-1468-08		143793006	15345657	12	789											
ADAM32	203102	broad.mit.edu	37	chr8	39091490	39091490	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcaagaaaatggtgatgtGatttatgctttcgtacgaga	13	13	10	5	2	1	4	1	2	0	2	2	5	1	4	0	1	2	2	0	1	5	4			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr8:39091490G>C	uc003xmt.4	+	15	1952	c.1707G>C	c.(1705-1707)gtG>gtC	p.V569V	ADAM32_uc011lch.2_Silent_p.V470V|ADAM32_uc003xmu.4_Silent_p.V463V|ADAM32_uc003xmv.3_Intron	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	569					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			ATGGTGATGTGATTTATGCTT	0.368													8	16					0	0	1	0	0	C	39091490	G	C	39091490	2	2	20	1	0	0	0	0	0	0	0	1	249	1277	45	5		5	ADAM32	8	39091490	Silent	SNP	G	TCGA-DB-5273-01A-01D-1468-08		39091490	107272532	13	790											
OR5M8	219484	broad.mit.edu	37	chr11	56258829	56258829	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaatgaactcagtcaccaaCgtgcagtttcttctcataat	13	12	6	10	1	4	2	3	1	2	1	5	2	4	2	1	0	3	2	1	0	4	3	rs137871700		TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr11:56258829C>T	uc001nix.1	-	0	18	c.18G>A	c.(16-18)acG>acA	p.T6T	OR8U8_uc001nit.2_Intron	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA.	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CAGTCACCAACGTGCAGTTTC	0.408													36	88					0	0	1	0	0	T	56258829	C	T	56258829	2	4	20	1	0	0	0	0	0	0	0	1	11176	523	19	1		1	OR5M8	11	56258829	Silent	SNP	C	TCGA-DB-5273-01A-01D-1468-08		56258829	78747687	14	791											
SESN3	143686	broad.mit.edu	37	chr11	94923103	94923103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgcatgtttattaagtaaGaacactgatgtctagctgca	13	13	8	7	0	1	2	0	1	1	1	1	2	1	2	0	0	4	5	0	0	5	5			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr11:94923103G>A	uc001pfk.1	-	3	587	c.365C>T	c.(364-366)tCt>tTt	p.S122F	SESN3_uc010rug.1_Intron|SESN3_uc001pfl.3_Missense_Mutation_p.S122F	NM_144665	NP_653266	P58005	SESN3_HUMAN	Homo sapiens sestrin 3 (SESN3), mRNA.	122					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TATTAAGTAAGAACACTGATG	0.328													20	61					0	0	1	0	0	A	94923103	G	A	94923103	3	1	20	1	0	0	0	0	1	0	0	0	14126	942	33	3	1141	3	SESN3	11	94923103	Missense_Mutation	SNP	G	TCGA-DB-5273-01A-01D-1468-08	38664274	94923103	40083413	15	792											
LIMA1	51474	broad.mit.edu	37	chr12	50586281	50586281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagaaagactggaggctctgGaatctggacttagtggcttg	10	10	14	7	0	2	2	0	0	2	2	2	5	2	5	0	5	0	2	0	5	3	2			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr12:50586281G>A	uc001rwj.4	-	8	1268	c.1094C>T	c.(1093-1095)tCc>tTc	p.S365F	LIMA1_uc001rwg.4_Missense_Mutation_p.S63F|LIMA1_uc001rwh.4_Missense_Mutation_p.S205F|LIMA1_uc001rwi.4_Missense_Mutation_p.S206F|LIMA1_uc001rwk.4_Missense_Mutation_p.S366F|LIMA1_uc010sms.2_Non-coding_Transcript|LIMA1_uc010smr.2_Non-coding_Transcript	NM_016357	NP_001230704	Q9UHB6	LIMA1_HUMAN	Homo sapiens LIM domain and actin binding 1 (LIMA1), transcript variant 2, mRNA.	365					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GGAGGCTCTGGAATCTGGACT	0.458													8	90					0	0	1	0	0	A	50586281	G	A	50586281	3	1	20	1	0	0	0	0	1	0	0	0	8796	1174	41	3	1197	3	LIMA1	12	50586281	Missense_Mutation	SNP	G	TCGA-DB-5273-01A-01D-1468-08		50586281	83265614	16	793											
RBMS2	5939	broad.mit.edu	37	chr12	56975653	56975653	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctatgaccccaccacagctCttcagaatgggtaaggtttt	10	11	8	12	0	2	2	1	1	1	1	2	2	2	2	4	2	1	3	4	2	3	5			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr12:56975653C>G	uc001sln.2	+	7	968	c.769C>G	c.(769-771)Ctt>Gtt	p.L257V	RBMS2_uc010sqp.1_Missense_Mutation_p.L112V|RBMS2_uc010sqq.1_Missense_Mutation_p.L132V|RBMS2_uc009zou.2_Missense_Mutation_p.L14V	NM_002898	NP_002889	Q15434	RBMS2_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 2 (RBMS2), mRNA.	257					RNA processing	nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						CACCACAGCTCTTCAGAATGG	0.433													5	211					0	0	1	0	0	G	56975653	C	G	56975653	3	3	20	1	0	0	0	0	1	0	0	0	13149	913	32	5	799	5	RBMS2	12	56975653	Missense_Mutation	SNP	C	TCGA-DB-5273-01A-01D-1468-08	6389372	56975653	76876242	17	794											
TMEM132D	121256	broad.mit.edu	37	chr12	130185090	130185090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcagaaatgactccaccCgggactgcaggctggagttc	12	7	11	11	1	1	2	1	1	0	1	3	4	2	4	2	3	1	3	2	3	2	1			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr12:130185090C>T	uc009zyl.1	-	1	561	c.233G>A	c.(232-234)cGg>cAg	p.R78Q		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	78						integral to membrane		p.R78R(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGACTCCACCCGGGACTGCAG	0.547													27	64					0	0	1	0	0	T	130185090	C	T	130185090	3	4	20	1	0	0	0	0	1	0	0	0	16044	652	23	2	3098	2	TMEM132D	12	130185090	Missense_Mutation	SNP	C	TCGA-DB-5273-01A-01D-1468-08	73209437	130185090	3666805	18	795											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr17:7577120C>T	uc002gim.2	-	7	1012	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			35	11					0	0	1	0	0	T	7577120	C	T	7577120	3	4	20	1	0	0	0	0	1	0	0	0	16378	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-DB-5273-01A-01D-1468-08		7577120	73618090	19	796											
KRTAP4-9	100132386	broad.mit.edu	37	chr17	39261778	39261778	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccgccccagctgttgtgtAtccagctgctgcaggcccca	5	9	11	16	1	0	0	0	0	0	0	1	0	1	0	6	1	5	6	6	1	1	2	rs143952367	by1000genomes	TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr17:39261778A>G	uc010wfp.2	+	0	138	c.138A>G	c.(136-138)gtA>gtG	p.V46V		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.	46	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						GCTGTTGTGTATCCAGCTGCT	0.652													4	54					0	0	1	0	0	G	39261778	A	G	39261778	2	3	20	1	0	0	0	0	0	0	0	1	8557	436	16	3		3	KRTAP4-9	17	39261778	Silent	SNP	A	TCGA-DB-5273-01A-01D-1468-08	31684658	39261778	41933432	20	797											
TCEB3B	51224	broad.mit.edu	37	chr18	44561501	44561501	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctttctgattccagtctcCgccaggatgtctgccgtcat	5	14	9	13	2	5	1	1	1	4	0	7	2	6	2	4	1	1	0	4	1	0	2			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr18:44561501C>T	uc002lcr.1	-	0	488	c.135G>A	c.(133-135)gcG>gcA	p.A45A	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	45	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTCCAGTCTCCGCCAGGATGT	0.577													11	43					0	0	1	0	0	T	44561501	C	T	44561501	2	4	20	1	0	0	0	0	0	0	0	1	15679	639	23	2		2	TCEB3B	18	44561501	Silent	SNP	C	TCGA-DB-5273-01A-01D-1468-08		44561501	33515747	21	798											
PPP1R12C	54776	broad.mit.edu	37	chr19	55607493	55607493	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caccaggccggcgctccttgGacaagtcctggagggaaatc	9	6	13	13	2	0	0	0	0	0	0	3	3	2	3	4	5	0	1	4	5	2	1			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr19:55607493G>C	uc002qix.3	-	7	1095	c.1079C>G	c.(1078-1080)tCc>tGc	p.S360C	PPP1R12C_uc010yfs.2_Missense_Mutation_p.S286C|PPP1R12C_uc002qiy.3_Missense_Mutation_p.S360C|Mir_324_uc021vbr.1_5'Flank	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12C (PPP1R12C), mRNA.	360						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GCGCTCCTTGGACAAGTCCTG	0.657													14	83					0	0	1	0	0	C	55607493	G	C	55607493	3	2	20	1	0	0	0	0	1	0	0	0	12356	1174	41	5	1329	5	PPP1R12C	19	55607493	Missense_Mutation	SNP	G	TCGA-DB-5273-01A-01D-1468-08		55607493	3521490	22	799											
ATRX	546	broad.mit.edu	37	chrX	76939964	76939964	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaaatgtagcaataccattGgttgttttcatccattattg	12	16	6	7	0	1	0	1	0	0	0	2	0	2	0	2	1	2	4	2	1	5	8			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chrX:76939964G>A	uc004ecp.4	-	8	1016	c.784C>T	c.(784-786)Caa>Taa	p.Q262*	ATRX_uc004ecq.4_Nonsense_Mutation_p.Q224*|ATRX_uc004eco.4_Nonsense_Mutation_p.Q47*|ATRX_uc004ecr.2_Nonsense_Mutation_p.Q223*|ATRX_uc010nlx.1_Nonsense_Mutation_p.Q262*|ATRX_uc010nly.1_Nonsense_Mutation_p.Q207*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	262	ADD.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.N261N(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CAATACCATTGGTTGTTTTCA	0.393			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						146	59					0	0	1	0	0	A	76939964	G	A	76939964	4	1	20	1	0	0	0	0	0	1	0	0	1208	1357	47	3	6802	3	ATRX	23	76939964	Nonsense_Mutation	SNP	G	TCGA-DB-5273-01A-01D-1468-08		76939964	78330596	23	800											
HSPG2	3339	broad.mit.edu	37	chr1	22211318	22211318	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaaacaccatgccccgggcGttcatggcctcacaggtgta	9	7	10	15	2	2	0	2	0	0	0	2	0	2	0	5	3	2	2	5	3	2	2			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr1:22211318G>A	uc009vqd.3	-	11	1489	c.1449C>T	c.(1447-1449)aaC>aaT	p.N483N	HSPG2_uc001bfj.3_Silent_p.N483N	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	483	Ig-like C2-type 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGCCCCGGGCGTTCATGGCCT	0.627													11	19					0	0	1	0	0	A	22211318	G	A	22211318	2	1	21	1	0	0	0	0	0	0	0	1	7430	1136	40	1		1	HSPG2	1	22211318	Silent	SNP	G	TCGA-DB-5274-01A-01D-1468-08		22211318	227039303	1	801											
FUBP1	8880	broad.mit.edu	37	chr1	78432402	78432405	+	Frame_Shift_Del	DEL	AACA	AACA	-																															cagattcaggtgttccagttAacatacaggacctttctgga																										TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr1:78432402_78432405delAACA	uc001dii.3	-	6	535_538	c.446_449delTGTT	c.(445-450)atgttafs	p.M149fs	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Frame_Shift_Del_p.M170fs	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	149	KH 1.				transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TGTTCCAGTTAACATACAGGACCT	0.338			"F, N"		oligodendroglioma								30	43	---	---	---	---						-	78432405	AACA	-	78432402	7	5	21	1	0	1	0	1	0	0	0	0	6092	372	13	0	1541	0	FUBP1	1	78432402	Frame_Shift_Del	DEL	AACA	TCGA-DB-5274-01A-01D-1468-08	56221084	78432402	170818219	2	802											
BTBD8	284697	broad.mit.edu	37	chr1	92546168	92546168	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgcggcccccatggtaCttctggggtccgctggagtt	4	10	15	12	2	1	0	0	0	1	0	2	1	2	1	3	5	2	4	3	5	1	3			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr1:92546168C>T	uc001doo.3	+	0	307	c.40C>T	c.(40-42)Ctt>Ttt	p.L14F	BTBD8_uc010otc.2_Non-coding_Transcript	NM_183242	NP_899065	Q5XKL5	BTBD8_HUMAN	Homo sapiens BTB (POZ) domain containing 8 (BTBD8), mRNA.	14						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		CCCCATGGTACTTCTGGGGTC	0.657													5	25					0	0	1	0	0	T	92546168	C	T	92546168	3	4	21	1	0	0	0	0	1	0	0	0	1547	565	20	3	42	3	BTBD8	1	92546168	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08	14113766	92546168	156704453	3	803											
FAM102B	284611	broad.mit.edu	37	chr1	109103056	109103058	+	In_Frame_Del	DEL	GAA	GAA	-																															cgcctggctctcacgatgatGaagaagaagaagtttaagtt																										TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr1:109103056_109103058delGAA	uc010ouy.2	+	0	86_88	c.6_8delGAA	c.(4-9)atgaag>atg	p.K6del		NM_001010883	NP_001010883	Q5T8I3	F102B_HUMAN	Homo sapiens family with sequence similarity 102, member B (FAM102B), mRNA.	6	Poly-Lys.									autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		TCACGATGATGAAGAAGAAGAAG	0.64													12	8	---	---	---	---						-	109103058	GAA	-	109103056	7	5	21	1	0	1	0	1	0	0	0	0	5383	1290	45	0	8	0	FAM102B	1	109103056	In_Frame_Del	DEL	GAA	TCGA-DB-5274-01A-01D-1468-08	16556888	109103056	140147565	4	804											
C1orf56	54964	broad.mit.edu	37	chr1	151021328	151021331	+	Splice_Site	DEL	AGTA	AGTA	-																															gtgttcacagagatgcaaccAgtaagtgtttggtgatgagc																										TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr1:151021328_151021331delAGTA	uc001ewn.3	+	1	1070	c.1005_splice	c.e1+1	p.P335_splice	C1orf56_uc021oyi.1_Frame_Shift_Del_p.P335fs	NM_017860	NP_060330	Q9BUN1	CA056_HUMAN	Homo sapiens chromosome 1 open reading frame 56 (C1orf56), mRNA.	335						extracellular region				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGATGCAACCAGTAAGTGTTTGGT	0.505											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	120	---	---	---	---						-	151021331	AGTA	-	151021328	8	5	21	1	0	1	0	1	0	0	1	0	2048	202	7	0	1007	0	C1orf56	1	151021328	Splice_Site	DEL	AGTA	TCGA-DB-5274-01A-01D-1468-08	41918272	151021328	98229293	5	805											
TPR	7175	broad.mit.edu	37	chr1	186315342	186315342	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttctctacttccatcaaCttcttttccaactgtgtctg	6	18	3	14	0	4	0	1	0	3	0	8	0	7	0	3	0	3	0	3	0	3	6			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr1:186315342C>G	uc001grv.3	-	22	3318	c.3021G>C	c.(3019-3021)aaG>aaC	p.K1007N	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	1007					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTTCCATCAACTTCTTTTCCA	0.353			T	NTRK1	papillary thyroid								11	172					0	0	1	0	0	G	186315342	C	G	186315342	3	3	21	1	0	0	0	0	1	0	0	0	16413	564	20	5	4186	5	TPR	1	186315342	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08	35294014	186315342	62935279	6	806											
HHAT	55733	broad.mit.edu	37	chr1	210761338	210761338	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgagctactggcatggCggctacgactacctctggtg	6	12	13	10	2	1	1	0	1	1	0	1	2	1	1	1	4	4	3	1	4	3	4	rs139136517		TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr1:210761338C>T	uc010psr.2	+	8	1248	c.1143C>T	c.(1141-1143)ggC>ggT	p.G381G	HHAT_uc009xcx.3_Silent_p.G380G|HHAT_uc010psq.2_Silent_p.G243G|HHAT_uc009xcy.3_Silent_p.G315G|HHAT_uc010pss.2_Silent_p.G335G|HHAT_uc010pst.2_Silent_p.G317G|HHAT_uc001hhz.4_Silent_p.G380G|HHAT_uc021pip.1_Silent_p.G380G|HHAT_uc010psu.2_Silent_p.G315G|HHAT_uc001hia.4_Silent_p.G70G	NM_001170587	NP_001164058	Q5VTY9	HHAT_HUMAN	Homo sapiens hedgehog acyltransferase (HHAT), transcript variant 5, mRNA.	380					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		ACTGGCATGGCGGCTACGACT	0.587													6	57					0	0	1	0	0	T	210761338	C	T	210761338	2	4	21	1	0	0	0	0	0	0	0	1	7089	755	27	1		1	HHAT	1	210761338	Silent	SNP	C	TCGA-DB-5274-01A-01D-1468-08	24445996	210761338	38489283	7	807											
EPC2	26122	broad.mit.edu	37	chr2	149511681	149511682	+	Frame_Shift_Del	DEL	AG	AG	-																															gttgcctttcggagaagaacAgagaaaatgcaaactcgaaa																										TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr2:149511681_149511682delAG	uc010zbt.2	+	3	672_673	c.645_646delAG	c.(643-648)acagagfs	p.T215fs		NM_015630	NP_056445	Q52LR7	EPC2_HUMAN	Homo sapiens enhancer of polycomb homolog 2 (Drosophila) (EPC2), mRNA.	215					DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		GGAGAAGAACAGAGAAAATGCA	0.361													13	13	---	---	---	---						-	149511682	AG	-	149511681	7	5	21	1	0	1	0	1	0	0	0	0	5161	175	7	0	659	0	EPC2	2	149511681	Frame_Shift_Del	DEL	AG	TCGA-DB-5274-01A-01D-1468-08		149511681	93687692	8	808											
TTN	7273	broad.mit.edu	37	chr2	179435116	179435116	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagtccaaactaagcggCtggtttctctcctttccaca	9	11	6	15	1	1	0	0	0	1	0	5	0	4	0	4	2	2	2	4	2	2	3			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr2:179435116C>A	uc021vsy.1	-	274	68264	c.68039G>T	c.(68038-68040)aGc>aTc	p.S22680I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S16375I|TTN_uc021vta.1_Missense_Mutation_p.S16308I|TTN_uc021vtb.1_Missense_Mutation_p.S16183I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23607							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTAAGCGGCTGGTTTCTCT	0.438													3	65					1	1	1	1	0	A	179435116	C	A	179435116	3	1	21	1	0	0	0	0	1	0	0	0	16732	797	28	5	32384	5	TTN	2	179435116	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08	29923435	179435116	63764257	9	809											
TTN	7273	broad.mit.edu	37	chr2	179645981	179645981	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccggtttgtttgttgtaactCactttgtatctttatgtaaa	8	20	7	6	1	2	0	1	0	1	0	2	0	2	0	1	1	1	6	1	1	5	9			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr2:179645981C>T	uc021vsy.1	-	20	3615	c.3390G>A	c.(3388-3390)gtG>gtA	p.V1130V	TTN_uc021vsz.1_Silent_p.V1084V|TTN_uc021vta.1_Silent_p.V1084V|TTN_uc021vtb.1_Silent_p.V1084V|TTN_uc002unb.2_Silent_p.V1130V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1130	Ig-like 4.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTTGTAACTCACTTTGTATC	0.353													23	70					0	0	1	0	0	T	179645981	C	T	179645981	2	4	21	1	0	0	0	0	0	0	0	1	16732	813	29	3		3	TTN	2	179645981	Silent	SNP	C	TCGA-DB-5274-01A-01D-1468-08	210865	179645981	63553392	10	810											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								42	103					0	0	1	0	0	T	209113112	C	T	209113112	3	4	21	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08	29467131	209113112	34086261	11	811											
TRIP12	9320	broad.mit.edu	37	chr2	230672968	230672968	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atatttagcccaatctttacCaaatcagagatgtcagttca	14	13	5	9	0	4	1	3	0	1	1	4	2	4	1	2	0	2	1	2	0	5	6			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr2:230672968C>A	uc002vpx.1	-	16	2448	c.2339_splice	c.e16+1	p.C780_splice	TRIP12_uc021vxw.1_Splice_Site_p.C738_splice|TRIP12_uc002vpy.1_Splice_Site_p.C435_splice|TRIP12_uc002vpw.1_Splice_Site_p.C732_splice|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Splice_Site_p.C738_splice	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	732	WWE.				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)		CAATCTTTACCAAATCAGAGA	0.488													4	79					0.00909568	0.0106349	1	1	0	A	230672968	C	A	230672968	5	1	21	1	0	0	0	0	0	0	1	0	16553	608	21	5	3891	5	TRIP12	2	230672968	Splice_Site	SNP	C	TCGA-DB-5274-01A-01D-1468-08	21559856	230672968	12526405	12	812											
TBC1D23	55773	broad.mit.edu	37	chr3	99979910	99979910	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaacgtcgagcggcgaCggctggtgagtgaaagccgg	8	5	17	11	6	0	2	0	2	0	0	1	4	0	2	2	4	4	1	2	4	2	0			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr3:99979910C>T	uc003dtt.3	+	0	225	c.48C>T	c.(46-48)gaC>gaT	p.D16D	TBC1D23_uc003dts.3_Silent_p.D16D	NM_001199198	NP_001186127	Q9NUY8	TBC23_HUMAN	Homo sapiens TBC1 domain family, member 23 (TBC1D23), transcript variant 1, mRNA.	16						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						CGAGCGGCGACGGCTGGTGAG	0.597													3	61					0	0	1	0	0	T	99979910	C	T	99979910	2	4	21	1	0	0	0	0	0	0	0	1	15610	535	19	1		1	TBC1D23	3	99979910	Silent	SNP	C	TCGA-DB-5274-01A-01D-1468-08		99979910	98042520	13	813											
MYH15	22989	broad.mit.edu	37	chr3	108103610	108103612	+	In_Frame_Del	DEL	TTC	TTC	-																															gagtttgcatcctgctcagaTtcttcttgtcttcctctgcc																										TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr3:108103610_108103612delTTC	uc003dxa.1	-	39	5670_5672	c.5613_5615delGAA	c.(5611-5616)aagaat>aat	p.K1871del		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1871						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCTGCTCAGATTCTTCTTGTCTT	0.473													55	131	---	---	---	---						-	108103612	TTC	-	108103610	7	5	21	1	0	1	0	1	0	0	0	0	10034	1493	52	0	237	0	MYH15	3	108103610	In_Frame_Del	DEL	TTC	TCGA-DB-5274-01A-01D-1468-08	8123700	108103610	89918820	14	814											
MYH15	22989	broad.mit.edu	37	chr3	108220660	108220660	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcaatcatttcaaactctgGaggattcatctgctggattt	10	16	7	8	0	6	0	4	0	2	0	6	3	6	3	0	3	2	1	0	3	2	4			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr3:108220660G>T	uc003dxa.1	-	3	355	c.298C>A	c.(298-300)Cca>Aca	p.P100T		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	100	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.P99H(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCAAACTCTGGAGGATTCATC	0.443													4	236					0.184627	0.200452	1	1	0	T	108220660	G	T	108220660	3	4	21	1	0	0	0	0	1	0	0	0	10034	1174	41	5	5698	5	MYH15	3	108220660	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	117050	108220660	89801770	15	815											
PARP14	54625	broad.mit.edu	37	chr3	122419983	122419983	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagagggcagactcctacCgggcaatgccaccatctcca	11	5	11	14	1	1	2	0	0	1	2	3	4	2	2	5	2	2	2	5	2	2	1			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr3:122419983C>A	uc003efq.4	+	5	2641	c.2582C>A	c.(2581-2583)cCg>cAg	p.P861Q	PARP14_uc021xdc.1_Missense_Mutation_p.P725Q|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Missense_Mutation_p.P578Q|PARP14_uc003efs.1_Missense_Mutation_p.P578Q	NM_017554	NP_060024	Q460N5	PAR14_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.	861	Macro 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AGACTCCTACCGGGCAATGCC	0.617													4	30					1	1	1	1	0	A	122419983	C	A	122419983	3	1	21	1	0	0	0	0	1	0	0	0	11458	652	23	5	2604	5	PARP14	3	122419983	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08	14199323	122419983	75602447	16	816											
STAG1	10274	broad.mit.edu	37	chr3	136117601	136117601	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttacttactttggaaggaGagccatcagtaattttcacc	11	14	7	9	0	3	1	2	0	1	1	3	3	3	2	2	2	3	1	2	2	4	6			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr3:136117601G>C	uc003era.1	-	21	2559	c.2267C>G	c.(2266-2268)tCt>tGt	p.S756C	STAG1_uc003erb.1_Missense_Mutation_p.S756C|STAG1_uc003erc.1_Missense_Mutation_p.S530C	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	756					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	p.S756C(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TTTGGAAGGAGAGCCATCAGT	0.313													19	58					0	0	1	0	0	C	136117601	G	C	136117601	3	2	21	1	0	0	0	0	1	0	0	0	15241	942	33	5	1561	5	STAG1	3	136117601	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	13697618	136117601	61904829	17	817											
RBP1	5947	broad.mit.edu	37	chr3	139237308	139237308	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgggtccagccacgcccCtccttctcacccttctgcac	5	9	6	21	1	2	0	1	0	2	0	5	0	4	0	6	1	2	1	6	1	0	2			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr3:139237308C>T	uc003eti.2	-	2	606	c.495G>A	c.(493-495)gaG>gaA	p.E165E		NM_002899	NP_002890	P09455	RET1_HUMAN	Homo sapiens retinol binding protein 1, cellular (RBP1), transcript variant 1, mRNA.	103						cytoplasm	retinal binding|retinol binding|transporter activity			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Vitamin A(DB00162)	AGCCACGCCCCTCCTTCTCAC	0.597													7	102					0	0	1	0	0	T	139237308	C	T	139237308	2	4	21	1	0	0	0	0	0	0	0	1	13155	680	24	3		3	RBP1	3	139237308	Silent	SNP	C	TCGA-DB-5274-01A-01D-1468-08	3119707	139237308	58785122	18	818											
CSN3	1448	broad.mit.edu	37	chr4	71115076	71115076	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagctcctgccactgaacCaacggtggacagtgtagtca	11	7	10	13	1	1	1	1	1	0	0	2	2	2	2	4	2	4	2	4	2	3	1			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr4:71115076C>A	uc003hfe.4	+	3	507	c.449C>A	c.(448-450)cCa>cAa	p.P150Q		NM_005212	NP_005203	P07498	CASK_HUMAN	Homo sapiens casein kappa (CSN3), mRNA.	150						extracellular region	protein binding	p.E149E(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						GCCACTGAACCAACGGTGGAC	0.463													3	63					0.014758	0.0167404	1	1	0	A	71115076	C	A	71115076	3	1	21	1	0	0	0	0	1	0	0	0	3949	594	21	5	459	5	CSN3	4	71115076	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08		71115076	120039200	19	819											
FAT4	79633	broad.mit.edu	37	chr4	126371851	126371851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgactctggaacaaatgCtgtgattgcgtatactgtac	10	13	10	8	1	1	2	0	2	1	0	1	3	1	3	0	1	6	4	0	1	5	4			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr4:126371851C>T	uc003ifj.4	+	8	9680	c.9680C>T	c.(9679-9681)gCt>gTt	p.A3227V	FAT4_uc011cgp.2_Missense_Mutation_p.A1525V|FAT4_uc003ifi.1_Missense_Mutation_p.A705V	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3227	Cadherin 31.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGAACAAATGCTGTGATTGCG	0.428													3	130					0	0	1	0	0	T	126371851	C	T	126371851	3	4	21	1	0	0	0	0	1	0	0	0	5692	797	28	3	9714	3	FAT4	4	126371851	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08	55256775	126371851	64782425	20	820											
PCDH18	54510	broad.mit.edu	37	chr4	138442647	138442649	+	In_Frame_Del	DEL	TCT	TCT	-																															ctttccaaaggtggaaaaacTcttcttcttttcaccggaat																										TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr4:138442647_138442649delTCT	uc003ihe.4	-	3	3329_3331	c.2942_2944delAGA	c.(2941-2946)aagagt>agt	p.K981del	PCDH18_uc003ihf.4_In_Frame_Del_p.K973del|PCDH18_uc011cgz.2_In_Frame_Del_p.K192del|PCDH18_uc003ihg.4_In_Frame_Del_p.K760del|PCDH18_uc011cha.2_In_Frame_Del_p.K161del	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	981	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GTGGAAAAACTCTTCTTCTTTTC	0.512													20	109	---	---	---	---						-	138442649	TCT	-	138442647	7	5	21	1	0	1	0	1	0	0	0	0	11513	1551	54	0	467	0	PCDH18	4	138442647	In_Frame_Del	DEL	TCT	TCGA-DB-5274-01A-01D-1468-08	12070796	138442647	52711629	21	821											
C6	729	broad.mit.edu	37	chr5	41149347	41149347	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccattggaacttacctgaAcatttttcccagtcatagca	12	12	5	12	0	1	1	1	1	0	0	2	2	2	2	3	1	4	1	3	1	4	5			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr5:41149347A>G	uc003jmk.2	-	16	2829	c.2619T>C	c.(2617-2619)tgT>tgC	p.C873C	C6_uc003jml.1_Silent_p.C873C	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	873	C5b-binding domain.|Complement control factor I module 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACTTACCTGAACATTTTTCCC	0.398													182	242					0	0	1	0	0	G	41149347	A	G	41149347	2	3	21	1	0	0	0	0	0	0	0	1	2315	41	2	3		3	C6	5	41149347	Silent	SNP	A	TCGA-DB-5274-01A-01D-1468-08		41149347	139765913	22	822											
MAST4	375449	broad.mit.edu	37	chr5	66441064	66441064	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaactggctatttcaacagAgggagagcaagatgaagctg	15	7	12	7	0	1	4	1	1	0	3	1	5	1	4	0	2	4	3	0	2	5	2			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr5:66441064A>C	uc021xzk.1	+	22	3259	c.2951A>C	c.(2950-2952)gAg>gCg	p.E984A	MAST4_uc003jut.2_Missense_Mutation_p.E795A|MAST4_uc003juu.1_Missense_Mutation_p.E805A|MAST4_uc011cra.1_Missense_Mutation_p.E778A|MAST4_uc003juv.2_Missense_Mutation_p.E790A|MAST4_uc003juw.3_Missense_Mutation_p.E790A	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	987						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		ATTTCAACAGAGGGAGAGCAA	0.512													14	23					0	0	1	0	0	C	66441064	A	C	66441064	3	2	21	1	0	0	0	0	1	0	0	0	9327	304	11	5	3171	5	MAST4	5	66441064	Missense_Mutation	SNP	A	TCGA-DB-5274-01A-01D-1468-08	25291717	66441064	114474196	23	823											
FEM1C	56929	broad.mit.edu	37	chr5	114860125	114860125	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtggtatgatttataggctgGattaaatttttagctatttc	10	19	9	3	0	0	1	0	1	0	0	1	2	0	2	0	3	1	3	0	3	7	10			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr5:114860125G>C	uc003krb.1	-	2	2296	c.1734C>G	c.(1732-1734)atC>atG	p.I578M	FEM1C_uc021ycp.1_Missense_Mutation_p.I285M	NM_020177	NP_064562	Q96JP0	FEM1C_HUMAN	Homo sapiens fem-1 homolog c (C. elegans) (FEM1C), mRNA.	578						cytoplasm				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		TTATAGGCTGGATTAAATTTT	0.368													69	103					0	0	1	0	0	C	114860125	G	C	114860125	3	2	21	1	0	0	0	0	1	0	0	0	5811	1164	41	5	123	5	FEM1C	5	114860125	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	48419061	114860125	66055135	24	824											
TGFBI	7045	broad.mit.edu	37	chr5	135385198	135385198	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtacacgcttttggccccgaCcaatgaggccttcgagaaga	10	8	11	12	3	0	3	0	1	0	2	1	5	0	3	4	2	1	2	4	2	3	4			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr5:135385198C>A	uc003lbf.4	+	6	1003	c.842C>A	c.(841-843)aCc>aAc	p.T281N	TGFBI_uc003lbg.4_Missense_Mutation_p.T14N|TGFBI_uc003lbh.4_Missense_Mutation_p.T107N|TGFBI_uc011cyb.2_Missense_Mutation_p.T107N	NM_000358	NP_000349	Q15582	BGH3_HUMAN	Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA.	281	FAS1 2.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTGGCCCCGACCAATGAGGCC	0.582													3	55					0.115264	0.128824	1	1	0	A	135385198	C	A	135385198	3	1	21	1	0	0	0	0	1	0	0	0	15817	507	18	5	868	5	TGFBI	5	135385198	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08	20525073	135385198	45530062	25	825											
ATP10B	23120	broad.mit.edu	37	chr5	160067534	160067534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgtctatattcatgcGccgctcaatcttgctgcgtt	8	14	9	10	3	4	1	2	0	2	1	4	2	4	1	1	0	3	3	1	0	4	5			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr5:160067534G>A	uc003lym.1	-	9	1781	c.934C>T	c.(934-936)Cgc>Tgc	p.R312C	ATP10B_uc003lyp.2_Missense_Mutation_p.R312C|ATP10B_uc011deg.1_Missense_Mutation_p.R356C|ATP10B_uc003lyo.2_Missense_Mutation_p.R284C	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	312					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATATTCATGCGCCGCTCAATC	0.473													10	260					0	0	1	0	0	A	160067534	G	A	160067534	3	1	21	1	0	0	0	0	1	0	0	0	1117	1087	38	1	3519	1	ATP10B	5	160067534	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	24682336	160067534	20847726	26	826											
HLA-DQA2	3118	broad.mit.edu	37	chr6	32713716	32713716	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcacagaaggtgtttctgaGaccagcttcctctccaagag	10	10	10	11	0	3	3	1	1	2	3	5	4	4	3	3	1	1	2	3	1	2	2	rs35633399		TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr6:32713716G>C	uc003obx.3	+	2	538	c.480G>C	c.(478-480)gaG>gaC	p.E160D		NM_020056	NP_064440	P01906	DQA2_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 2 (HLA-DQA2), mRNA.	160	Alpha-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTGTTTCTGAGACCAGCTTCC	0.493													97	125					0	0	1	0	0	C	32713716	G	C	32713716	3	2	21	1	0	0	0	0	1	0	0	0	7205	933	33	5	490	5	HLA-DQA2	6	32713716	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08		32713716	138401351	27	827											
RFX6	222546	broad.mit.edu	37	chr6	117198501	117198501	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcctgcgccccaactgtcCccggggatccaggaagactg	8	5	12	16	2	0	1	0	0	0	1	2	3	2	3	6	3	3	0	6	3	2	0			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr6:117198501C>T	uc003pxm.3	+	0	126	c.63C>T	c.(61-63)tcC>tcT	p.S21S		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	21					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CCCAACTGTCCCCGGGGATCC	0.687													4	18					0	0	1	0	0	T	117198501	C	T	117198501	2	4	21	1	0	0	0	0	0	0	0	1	13267	610	22	3		3	RFX6	6	117198501	Silent	SNP	C	TCGA-DB-5274-01A-01D-1468-08	84484785	117198501	53916566	28	828											
HOXA4	3201	broad.mit.edu	37	chr7	27169089	27169089	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgcggcgccgccgggtcaGgtatcgattgaagtggaact	8	8	16	9	5	1	1	1	1	0	0	2	4	1	2	2	4	2	1	2	4	3	2			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr7:27169089G>A	uc003sym.4	-	1	765	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L	HOXA3_uc003syk.3_5'Flank	NM_002141	NP_002132	Q00056	HXA4_HUMAN	Homo sapiens homeobox A4 (HOXA4), mRNA.	240						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						CGCCGGGTCAGGTATCGATTG	0.572													40	75					0	0	1	0	0	A	27169089	G	A	27169089	2	1	21	1	0	0	0	0	0	0	0	1	7294	991	35	3		3	HOXA4	7	27169089	Silent	SNP	G	TCGA-DB-5274-01A-01D-1468-08		27169089	131969574	29	829											
PABPC1	26986	broad.mit.edu	37	chr8	101733783	101733784	+	Frame_Shift_Ins	INS	-	-	T																															ccccacgtagagcgaggccaINStggggtagctgggggcactg																										TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr8:101733783_101733784insT	uc003yjs.1	-	0	532_533	c.28_29insA	c.(28-30)atgfs	p.M10fs	PABPC1_uc011lhc.1_Frame_Shift_Ins_p.M10fs|PABPC1_uc011lhd.1_Intron|PABPC1_uc003yjt.1_Frame_Shift_Ins_p.M10fs|PABPC1_uc003yju.2_Non-coding_Transcript	NM_002568	NP_002559	P11940	PABP1_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1 (PABPC1), mRNA.	10					mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			GAGCGAGGCCATGGGGTAGCTG	0.698													10	29	---	---	---	---						T	101733784	-	T	101733783	7	5	21	1	0	1	1	0	0	0	0	0	11363	217	8	0	1937	0	PABPC1	8	101733783	Frame_Shift_Ins	INS	-	TCGA-DB-5274-01A-01D-1468-08		101733783	44630239	30	830											
ENPP2	5168	broad.mit.edu	37	chr8	120608098	120608098	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaacttactttgtcctgacGagtttccgcagcataatgat	11	14	7	9	2	0	2	0	2	0	0	2	3	2	2	2	0	3	3	2	0	4	5			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr8:120608098G>T	uc003yos.2	-	11	1203	c.1117C>A	c.(1117-1119)Cgt>Agt	p.R373S	ENPP2_uc003yor.2_5'Flank|ENPP2_uc010mdd.2_Intron|ENPP2_uc003yot.2_Intron	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	324					G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	p.R373H(2)|p.R373S(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTGTCCTGACGAGTTTCCGCA	0.458													4	249					1	1	1	1	0	T	120608098	G	T	120608098	3	4	21	1	0	0	0	0	1	0	0	0	5130	1058	37	5	1769	5	ENPP2	8	120608098	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	18874315	120608098	25755924	31	831											
ACTL7B	10880	broad.mit.edu	37	chr9	111617665	111617665	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taggagtagatggacagcaaCgactgggacgtcacgtgcat	12	7	14	8	3	1	1	1	0	0	1	1	5	1	4	0	3	3	3	0	3	3	2			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr9:111617665C>T	uc004bdi.3	-	0	611	c.546G>A	c.(544-546)tcG>tcA	p.S182S		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	Homo sapiens actin-like 7B (ACTL7B), mRNA.	182						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TGGACAGCAACGACTGGGACG	0.647													6	64					0	0	1	0	0	T	111617665	C	T	111617665	2	4	21	1	0	0	0	0	0	0	0	1	201	523	19	1		1	ACTL7B	9	111617665	Silent	SNP	C	TCGA-DB-5274-01A-01D-1468-08		111617665	29595766	32	832											
ENG	2022	broad.mit.edu	37	chr9	130605420	130605420	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacttcaaggatggcattggGggcctgagccacgcagccct	8	7	14	12	1	1	1	1	1	0	0	1	3	1	2	3	4	2	2	3	4	1	2			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr9:130605420G>T	uc004bsj.4	-	1	585	c.172C>A	c.(172-174)Ccc>Acc	p.P58T	ENG_uc011mam.2_5'UTR|ENG_uc004bsk.4_Missense_Mutation_p.P58T|5S_rRNA_uc022bnt.1_5'Flank	NM_001114753	NP_001108225	P17813	EGLN_HUMAN	Homo sapiens endoglin (ENG), transcript variant 1, mRNA.	58					BMP signaling pathway|artery morphogenesis|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						ATGGCATTGGGGGCCTGAGCC	0.607									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				4	286					0.014758	0.0167404	1	1	0	T	130605420	G	T	130605420	3	4	21	1	0	0	0	0	1	0	0	0	5117	1232	43	5	1886	5	ENG	9	130605420	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	18987755	130605420	10608011	33	833											
C10orf68	79741	broad.mit.edu	37	chr10	33134208	33134208	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagcagatgatactggaagAggtataataaagggatcaat	17	10	11	3	0	1	3	1	1	0	2	1	5	1	5	0	3	2	2	0	3	8	5			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr10:33134208A>G	uc001iwm.1	+	12	1367	c.1131A>G	c.(1129-1131)agA>agG	p.R377R	C10orf68_uc001iwl.1_Intron|C10orf68_uc001iwn.4_Intron|C10orf68_uc010qei.1_Silent_p.R349R|C10orf68_uc001iwo.4_Non-coding_Transcript	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	Homo sapiens chromosome 10 open reading frame 68 (C10orf68), mRNA.	373										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						ATACTGGAAGAGGTATAATAA	0.303													2	23					0	0	1	0	0	G	33134208	A	G	33134208	2	3	21	1	0	0	0	0	0	0	0	1	1613	319	11	4		4	C10orf68	10	33134208	Silent	SNP	A	TCGA-DB-5274-01A-01D-1468-08		33134208	102400539	34	834											
PYROXD2	84795	broad.mit.edu	37	chr10	100143599	100143599	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccacatgtgctgcatttcGcccagcagctcccatcacac	8	8	8	17	1	1	0	1	0	0	0	3	0	2	0	3	1	4	4	3	1	0	1	rs148254477		TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr10:100143599G>A	uc001kpc.3	-	15	1788	c.1702C>T	c.(1702-1704)Cga>Tga	p.R568*	PYROXD2_uc001kpb.3_Non-coding_Transcript	NM_032709	NP_116098	Q8N2H3	PYRD2_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 2 (PYROXD2), mRNA.	568							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						GCTGCATTTCGCCCAGCAGCT	0.567													25	228					0	0	1	0	0	A	100143599	G	A	100143599	4	1	21	1	0	0	0	0	0	1	0	0	12867	1095	38	1	47	1	PYROXD2	10	100143599	Nonsense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	67009391	100143599	35391148	35	835											
MRGPRX3	117195	broad.mit.edu	37	chr11	18158870	18158870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcatcgtttcccttgtcGcgctgacaggaaacgcggtt	6	11	12	12	6	0	1	0	1	0	0	3	2	1	2	1	2	2	4	1	2	1	3			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr11:18158870G>A	uc021qek.1	+	0	121	c.121G>A	c.(121-123)Gcg>Acg	p.A41T	MRGPRX3_uc001mnu.3_Missense_Mutation_p.A41T	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	Homo sapiens MAS-related GPR, member X3 (MRGPRX3), mRNA.	41						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TTCCCTTGTCGCGCTGACAGG	0.592													69	172					0	0	1	0	0	A	18158870	G	A	18158870	3	1	21	1	0	0	0	0	1	0	0	0	9768	1087	38	1	123	1	MRGPRX3	11	18158870	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08		18158870	116847646	36	836											
CD82	3732	broad.mit.edu	37	chr11	44621761	44621761	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggatcctggccgacaagagCagtttcatctctgtcctgcg	7	11	11	12	2	2	1	1	0	1	1	5	3	4	2	3	2	2	2	3	2	1	1			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr11:44621761C>T	uc001myc.3	+	3	365	c.117C>T	c.(115-117)agC>agT	p.S39S	CD82_uc001myd.3_Silent_p.S39S	NM_002231	NP_002222	P27701	CD82_HUMAN	Homo sapiens CD82 molecule (CD82), transcript variant 1, mRNA.	39						integral to plasma membrane	protein binding			large_intestine(1)|ovary(1)	2						CCGACAAGAGCAGTTTCATCT	0.602													37	103					0	0	1	0	0	T	44621761	C	T	44621761	2	4	21	1	0	0	0	0	0	0	0	1	3040	709	25	3		3	CD82	11	44621761	Silent	SNP	C	TCGA-DB-5274-01A-01D-1468-08	26462891	44621761	90384755	37	837											
OR5L2	26338	broad.mit.edu	37	chr11	55594988	55594988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctccttcctagggtgcatGgtgcaattctacttgttttg	6	17	9	9	0	2	0	0	0	2	0	4	0	3	0	2	2	3	3	2	2	3	7			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr11:55594988G>A	uc001nhy.1	+	0	294	c.294G>A	c.(292-294)atG>atA	p.M98I		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C97C(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TAGGGTGCATGGTGCAATTCT	0.468										HNSCC(27;0.073)			32	244					0	0	1	0	0	A	55594988	G	A	55594988	3	1	21	1	0	0	0	0	1	0	0	0	11171	1348	47	3	296	3	OR5L2	11	55594988	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	10973227	55594988	79411528	38	838											
OR5AN1	390195	broad.mit.edu	37	chr11	59132343	59132343	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctattcatccatcatgTcacccaccctctgtgtttgg	6	15	6	14	0	5	0	3	0	2	0	6	0	6	0	3	1	1	2	3	1	1	3			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr11:59132343T>C	uc010rks.2	+	0	412	c.412T>C	c.(412-414)Tca>Cca	p.S138P		NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AN, member 1 (OR5AN1), mRNA.	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						ATCCATCATGTCACCCACCCT	0.478													8	231					0	0	1	0	0	C	59132343	T	C	59132343	3	2	21	1	0	0	0	0	1	0	0	0	11143	1667	58	3	414	3	OR5AN1	11	59132343	Missense_Mutation	SNP	T	TCGA-DB-5274-01A-01D-1468-08	3537355	59132343	75874173	39	839											
IL10RA	3587	broad.mit.edu	37	chr11	117869741	117869741	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagacagcgggatctgcctGcaggagcccagcctgagccc	9	4	13	15	1	1	2	0	1	1	1	1	4	1	4	4	2	6	1	4	2	0	0			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr11:117869741G>T	uc001prv.3	+	6	1199	c.1122G>T	c.(1120-1122)ctG>ctT	p.L374L	IL10RA_uc010rxl.2_Silent_p.L354L|IL10RA_uc010rxm.2_Silent_p.L354L|IL10RA_uc010rxn.2_Silent_p.L225L|IL10RA_uc001prw.3_Silent_p.L225L	NM_001558	NP_001549	Q13651	I10R1_HUMAN	Homo sapiens interleukin 10 receptor, alpha (IL10RA), transcript variant 1, mRNA.	374						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GGATCTGCCTGCAGGAGCCCA	0.627													3	28					1	1	1	1	0	T	117869741	G	T	117869741	2	4	21	1	0	0	0	0	0	0	0	1	7620	1306	46	5		5	IL10RA	11	117869741	Silent	SNP	G	TCGA-DB-5274-01A-01D-1468-08	58737398	117869741	17136775	40	840											
C11orf63	79864	broad.mit.edu	37	chr11	122805551	122805554	+	Frame_Shift_Del	DEL	AAAG	AAAG	-																															actctgggctgaatgttaatAaagaaagaggacacaaagac																										TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr11:122805551_122805554delAAAG	uc001pym.3	+	4	1699_1702	c.1402_1405delAAAG	c.(1402-1407)aaagaafs	p.K468fs		NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	468										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GAATGTTAATAAAGAAAGAGGACA	0.377													12	199	---	---	---	---						-	122805554	AAAG	-	122805551	7	5	21	1	0	1	0	1	0	0	0	0	1654	363	13	0	1480	0	C11orf63	11	122805551	Frame_Shift_Del	DEL	AAAG	TCGA-DB-5274-01A-01D-1468-08	4935810	122805551	12200965	41	841											
ST3GAL4	6484	broad.mit.edu	37	chr11	126278326	126278326	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacccagacacactcctcGtcctggtagctttcaaggca	11	8	7	15	1	1	1	1	0	0	1	4	1	3	1	3	2	2	3	3	2	3	2			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr11:126278326G>A	uc001qdx.1	+	4	450	c.433G>A	c.(433-435)Gtc>Atc	p.V145I	ST3GAL4_uc001qds.3_Missense_Mutation_p.V188I|ST3GAL4_uc001qdu.3_Missense_Mutation_p.V184I|ST3GAL4_uc021qry.1_Missense_Mutation_p.V188I|ST3GAL4_uc009zce.3_Missense_Mutation_p.V184I|ST3GAL4_uc001qdw.3_Missense_Mutation_p.V187I|ST3GAL4_uc001qdz.3_Missense_Mutation_p.V24I			Q11206	SIA4C_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 4 (ST3GAL4), transcript variant 3, mRNA.	188					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		CACACTCCTCGTCCTGGTAGC	0.547													31	69					0	0	1	0	0	A	126278326	G	A	126278326	3	1	21	1	0	0	0	0	1	0	0	0	15216	1145	40	1	576	1	ST3GAL4	11	126278326	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	3472775	126278326	8728190	42	842											
C12orf36	283422	broad.mit.edu	37	chr12	13529264	13529264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcatgaagtgtcttcatcagGaacacacagaaggtaaaagg	16	7	11	7	0	3	2	2	1	1	1	3	3	3	3	0	3	1	2	0	3	5	2			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr12:13529264G>A	uc001rbs.2	-	1	328	c.76C>T	c.(76-78)Cct>Tct	p.P26S						Homo sapiens chromosome 12 open reading frame 36 (C12orf36), non-coding RNA.											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		tcttcatcaggaacacacaga	0.463													4	35					0	0	1	0	0	A	13529264	G	A	13529264	3	1	21	1	0	0	0	0	1	0	0	0	1683	1174	41	3	348	3	C12orf36	12	13529264	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08		13529264	120322631	43	843											
ZBTB39	9880	broad.mit.edu	37	chr12	57397618	57397618	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccacatggtcccgagcatGctgccggatcagttgaatgt	8	10	12	11	2	1	1	1	1	0	0	3	3	3	2	3	2	3	3	3	2	1	1			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr12:57397618G>T	uc001sml.2	-	1	1237	c.1084C>A	c.(1084-1086)Cat>Aat	p.H362N	ZBTB39_uc021qzg.1_Missense_Mutation_p.H362N	NM_014830	NP_055645	O15060	ZBT39_HUMAN	Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TCCCGAGCATGCTGCCGGATC	0.547													4	172					1	1	1	1	0	T	57397618	G	T	57397618	3	4	21	1	0	0	0	0	1	0	0	0	17537	1319	46	5	1058	5	ZBTB39	12	57397618	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	43868354	57397618	76454277	44	844											
POLR3B	55703	broad.mit.edu	37	chr12	106850924	106850924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcattttaggctttgggCgttgccttgtatataaaaat	9	18	9	5	1	1	0	1	0	0	0	1	0	1	0	1	2	1	4	1	2	6	9			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr12:106850924C>T	uc001tlp.3	+	20	2524	c.2302C>T	c.(2302-2304)Cgt>Tgt	p.R768C	POLR3B_uc001tlq.3_Missense_Mutation_p.R710C	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	768					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.R768C(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						AGGCTTTGGGCGTTGCCTTGT	0.408													39	96					0	0	1	0	0	T	106850924	C	T	106850924	3	4	21	1	0	0	0	0	1	0	0	0	12229	768	27	1	2384	1	POLR3B	12	106850924	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08	49453306	106850924	27000971	45	845											
TMEM132B	114795	broad.mit.edu	37	chr12	125834834	125834834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagtccgggaaggggacacgGccacctttttggtctctctg	6	11	13	11	2	2	0	0	0	2	0	4	2	3	2	3	5	0	0	3	5	2	3			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr12:125834834G>A	uc001uhe.1	+	1	897	c.889G>A	c.(889-891)Gcc>Acc	p.A297T	TMEM132B_uc021rgl.1_Missense_Mutation_p.A187T	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	297						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGGGGACACGGCCACCTTTTT	0.532													16	343					0	0	1	0	0	A	125834834	G	A	125834834	3	1	21	1	0	0	0	0	1	0	0	0	16043	1203	42	3	895	3	TMEM132B	12	125834834	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	18983910	125834834	8017061	46	846											
FARP1	10160	broad.mit.edu	37	chr13	99083304	99083304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcctcccaagcacctggCggctcacctgtggaagcaca	8	7	11	15	1	1	0	1	0	0	0	2	1	2	1	4	3	3	4	4	3	2	1	rs61730891	byFrequency	TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr13:99083304C>T	uc001vnh.3	+	17	2152	c.1913C>T	c.(1912-1914)gCg>gTg	p.A638V	FARP1_uc001vnj.3_Missense_Mutation_p.A638V	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	638	DH.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AAGCACCTGGCGGCTCACCTG	0.587													5	112					0	0	1	0	0	T	99083304	C	T	99083304	3	4	21	1	0	0	0	0	1	0	0	0	5676	768	27	1	2202	1	FARP1	13	99083304	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08		99083304	16086574	47	847											
MCF2L	23263	broad.mit.edu	37	chr13	113699625	113699625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcatcctggtgatagacCggcgacgggacaaatggacc	11	7	13	10	3	1	2	1	1	0	1	2	6	2	4	3	4	0	0	3	4	2	2			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr13:113699625C>T	uc001vsu.3	+	3	490	c.490C>T	c.(490-492)Cgg>Tgg	p.R164W	MCF2L_uc001vsq.3_Missense_Mutation_p.R164W|MCF2L_uc010tjr.2_Missense_Mutation_p.R107W|MCF2L_uc001vsr.3_Missense_Mutation_p.R111W|MCF2L_uc001vss.4_Missense_Mutation_p.R105W|MCF2L_uc010tjs.2_Missense_Mutation_p.R105W|MCF2L_uc001vst.1_Missense_Mutation_p.R69W	NM_024979	NP_079255	O15068	MCF2L_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like (MCF2L), transcript variant 2, mRNA.	137	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GGTGATAGACCGGCGACGGGA	0.667													5	90					0	0	1	0	0	T	113699625	C	T	113699625	3	4	21	1	0	0	0	0	1	0	0	0	9379	643	23	2	599	2	MCF2L	13	113699625	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08	14616321	113699625	1470253	48	848											
NKX2-1	7080	broad.mit.edu	37	chr14	36987093	36987093	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgtacacctgcgcctgcGagaagagcacccggcgcttc	7	6	12	16	5	0	2	0	0	0	2	2	3	0	2	3	1	4	4	3	1	2	2			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr14:36987093G>T	uc001wtu.3	-	2	692	c.596C>A	c.(595-597)tCg>tAg	p.S199*	SFTA3_uc001wts.3_Intron|NKX2-1_uc001wtt.3_Nonsense_Mutation_p.S169*|NKX2-1_uc001wtv.3_Nonsense_Mutation_p.S169*|BX161496_uc001wtw.1_5'Flank	NM_001079668	NP_001073136	P43699	NKX21_HUMAN	Homo sapiens NK2 homeobox 1 (NKX2-1), transcript variant 1, mRNA.	169					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		CTGCGCCTGCGAGAAGAGCAC	0.682			A		NSCLC								3	19					1	1	1	1	0	T	36987093	G	T	36987093	4	4	21	1	0	0	0	0	0	1	0	0	10449	1059	37	5	613	5	NKX2-1	14	36987093	Nonsense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08		36987093	70362447	49	849											
SLC38A6	145389	broad.mit.edu	37	chr14	61451520	61451520	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttagtatgtgtattcagacAggtgagtaaaaatgttatgc	13	14	10	4	0	1	2	1	1	0	1	1	2	1	2	0	1	1	4	0	1	7	6			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr14:61451520A>G	uc001xfh.2	+	3	474	c.310_splice	c.e3+1	p.A104_splice	SLC38A6_uc001xfg.2_Splice_Site_p.A104_splice|SLC38A6_uc001xfi.3_Splice_Site|SLC38A6_uc001xfj.1_Splice_Site|SLC38A6_uc001xfk.3_Splice_Site|SLC38A6_uc010trz.2_Splice_Site_p.A81_splice	NM_001172702	NP_001166173	Q8IZM9	S38A6_HUMAN	Homo sapiens solute carrier family 38, member 6 (SLC38A6), transcript variant 1, mRNA.	104					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		GTATTCAGACAGGTGAGTAAA	0.378													13	175					0	0	1	0	0	G	61451520	A	G	61451520	5	3	21	1	0	0	0	0	0	0	1	0	14608	202	7	4	319	4	SLC38A6	14	61451520	Splice_Site	SNP	A	TCGA-DB-5274-01A-01D-1468-08	24464427	61451520	45898020	50	850											
ESR2	2100	broad.mit.edu	37	chr14	64699865	64699866	+	Frame_Shift_Del	DEL	TG	TG	-																															gggccaggcgtcactgagacTgtgggttctgggagccctct																										TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr14:64699865_64699866delTG	uc001xha.1	-	8	2050_2051	c.1582_1583delCA	c.(1582-1584)cagfs	p.Q528fs	ESR2_uc001xgy.2_Intron|ESR2_uc001xgu.3_Intron|ESR2_uc001xgv.3_Intron|ESR2_uc001xgw.3_Intron|ESR2_uc001xgx.3_Intron|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Frame_Shift_Del_p.Q437fs	NM_001437	NP_001428	Q92731	ESR2_HUMAN	Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.	528	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	TCACTGAGACTGTGGGTTCTGG	0.604													17	88	---	---	---	---						-	64699866	TG	-	64699865	7	5	21	1	0	1	0	1	0	0	0	0	5257	1580	55	0	99	0	ESR2	14	64699865	Frame_Shift_Del	DEL	TG	TCGA-DB-5274-01A-01D-1468-08	3248345	64699865	42649675	51	851											
STON2	85439	broad.mit.edu	37	chr14	81744248	81744248	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcttgaactcacggaatggTttttctaggccctgctcata	9	13	9	10	1	3	1	2	1	1	0	3	2	3	2	1	3	3	3	1	3	4	5			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr14:81744248T>G	uc010tvu.2	-	3	1605	c.1407A>C	c.(1405-1407)aaA>aaC	p.K469N	STON2_uc001xvk.1_Missense_Mutation_p.K469N|STON2_uc010tvt.2_Missense_Mutation_p.K266N	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	469	SHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CACGGAATGGTTTTTCTAGGC	0.478													12	290					0	0	1	0	0	G	81744248	T	G	81744248	3	3	21	1	0	0	0	0	1	0	0	0	15317	1722	60	5	1316	5	STON2	14	81744248	Missense_Mutation	SNP	T	TCGA-DB-5274-01A-01D-1468-08	17044383	81744248	25605292	52	852											
ATG2B	55102	broad.mit.edu	37	chr14	96757939	96757939	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tataataaattcacttacccAtgtcgataggaaagcctctt	14	13	5	9	1	2	0	1	0	1	0	3	2	2	1	2	1	2	0	2	1	7	7			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr14:96757939A>G	uc001yfi.3	-	37	5942	c.5577T>C	c.(5575-5577)caT>caC	p.H1859H		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	1859										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TCACTTACCCATGTCGATAGG	0.348													18	157					0	0	1	0	0	G	96757939	A	G	96757939	2	3	21	1	0	0	0	0	0	0	0	1	1094	214	8	3		3	ATG2B	14	96757939	Silent	SNP	A	TCGA-DB-5274-01A-01D-1468-08	15013691	96757939	10591601	53	853											
SH3GL3	6457	broad.mit.edu	37	chr15	84286924	84286924	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaggatttaaagaaggggAcatcattacattaaccaatc	17	11	7	6	0	1	1	1	0	0	1	2	3	1	3	1	3	2	0	1	3	7	5			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr15:84286924A>G	uc002bjw.3	+	8	1124	c.929A>G	c.(928-930)gAc>gGc	p.D310G	SH3GL3_uc002bjx.3_Missense_Mutation_p.D241G|SH3GL3_uc002bju.3_Missense_Mutation_p.D318G|SH3GL3_uc002bjv.3_Non-coding_Transcript	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA.	310	SH3.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						AAAGAAGGGGACATCATTACA	0.423													10	66					0	0	1	0	0	G	84286924	A	G	84286924	3	3	21	1	0	0	0	0	1	0	0	0	14252	275	10	3	963	3	SH3GL3	15	84286924	Missense_Mutation	SNP	A	TCGA-DB-5274-01A-01D-1468-08		84286924	18244468	54	854											
SEC14L5	9717	broad.mit.edu	37	chr16	5061202	5061202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgtggacgatgtcctgaCggctctgcacagccccgggc	5	7	16	13	3	1	1	0	1	1	0	2	3	2	2	3	4	2	2	3	4	0	0			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr16:5061202C>T	uc002cye.2	+	14	2087	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	636	GOLD.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GATGTCCTGACGGCTCTGCAC	0.662													20	35					0	0	1	0	0	T	5061202	C	T	5061202	3	4	21	1	0	0	0	0	1	0	0	0	13985	536	19	1	1961	1	SEC14L5	16	5061202	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08		5061202	85293551	55	855											
PDXDC1	23042	broad.mit.edu	37	chr16	15110003	15110003	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggaacggcagcagtaggaCacacagacaagattgggaga	16	4	14	7	1	0	3	0	0	0	3	0	6	0	5	0	4	2	3	0	4	4	3			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr16:15110003C>A	uc002dda.4	+	8	969	c.745C>A	c.(745-747)Cac>Aac	p.H249N	PDXDC1_uc010uzl.2_Missense_Mutation_p.H234N|PDXDC1_uc010uzm.2_Missense_Mutation_p.H158N|PDXDC1_uc002dcz.3_Missense_Mutation_p.H226N|PDXDC1_uc002ddb.4_Missense_Mutation_p.H222N|PDXDC1_uc010uzn.2_Missense_Mutation_p.H221N|PDXDC1_uc002ddc.3_Missense_Mutation_p.H249N	NM_015027	NP_055842	Q6P996	PDXD1_HUMAN	Homo sapiens pyridoxal-dependent decarboxylase domain containing 1 (PDXDC1), mRNA.	249					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	AGCAGTAGGACACACAGACAA	0.448													3	80					0.150653	0.165937	1	1	0	A	15110003	C	A	15110003	3	1	21	1	0	0	0	0	1	0	0	0	11696	478	17	5	779	5	PDXDC1	16	15110003	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08	10048801	15110003	75244750	56	856											
SCN4A	6329	broad.mit.edu	37	chr17	62018859	62018859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagttctccaggatgatggCgatgtacatgttgaccacga	11	10	12	8	2	1	2	0	2	1	0	2	6	1	3	2	2	1	3	2	2	2	3			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr17:62018859C>T	uc002jds.1	-	23	4860	c.4783G>A	c.(4783-4785)Gcc>Acc	p.A1595T		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1595					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AGGATGATGGCGATGTACATG	0.517													3	77					0	0	1	0	0	T	62018859	C	T	62018859	3	4	21	1	0	0	0	0	1	0	0	0	13920	768	27	1	731	1	SCN4A	17	62018859	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08		62018859	19176351	57	857											
ABCA8	10351	broad.mit.edu	37	chr17	66887644	66887645	+	Frame_Shift_Ins	INS	-	-	G																															attaccttataatcatcgatINSgctgctcatggcaatgtaag																										TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr17:66887644_66887645insG	uc002jhq.3	-	23	3469_3470	c.3129_3130insC	c.(3127-3132)agcatcfs	p.S1043fs	ABCA8_uc002jhp.3_Frame_Shift_Ins_p.S1003fs|ABCA8_uc010wqq.2_Frame_Shift_Ins_p.S1043fs|ABCA8_uc010wqr.2_Frame_Shift_Ins_p.S982fs	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	1003						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TAATCATCGATGCTGCTCATGG	0.347													26	59	---	---	---	---						G	66887645	-	G	66887644	7	5	21	1	0	1	1	0	0	0	0	0	38	1464	51	0	1803	0	ABCA8	17	66887644	Frame_Shift_Ins	INS	-	TCGA-DB-5274-01A-01D-1468-08	4868785	66887644	14307566	58	858											
CIC	23152	broad.mit.edu	37	chr19	42795593	42795594	+	Frame_Shift_Del	DEL	TG	TG	-																															ggcatccccatcctgcagtcTgtaccctccgccccaccccc																										TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr19:42795593_42795594delTG	uc002otf.1	+	9	2713_2714	c.2673_2674delTG	c.(2671-2676)tctgtafs	p.S891fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	891	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TCCTGCAGTCTGTACCCTCCGC	0.624			"Mis, F, S"		oligodendroglioma								7	64	---	---	---	---						-	42795594	TG	-	42795593	7	5	21	1	0	1	0	1	0	0	0	0	3424	1567	55	0	2711	0	CIC	19	42795593	Frame_Shift_Del	DEL	TG	TCGA-DB-5274-01A-01D-1468-08		42795593	16333390	59	859											
NLRP13	126204	broad.mit.edu	37	chr19	56422063	56422063	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accaacgtagagcaaatgctGttccatgcgtgcatcctgga	11	9	10	11	2	0	1	0	0	0	1	2	2	2	2	3	1	5	5	3	1	3	2	rs144412914	by1000genomes	TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr19:56422063G>C	uc010ygg.2	-	5	2173	c.2148C>G	c.(2146-2148)aaC>aaG	p.N716K		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	716							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGCAAATGCTGTTCCATGCGT	0.458													41	39					0	0	1	0	0	C	56422063	G	C	56422063	3	2	21	1	0	0	0	0	1	0	0	0	10475	1368	48	5	1005	5	NLRP13	19	56422063	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	13626470	56422063	2706920	60	860											
ZNF334	55713	broad.mit.edu	37	chr20	45130734	45130736	+	In_Frame_Del	DEL	AAG	AAG	-																															cattgagggcagattgacaaAagaaggttttctcacattca																										TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr20:45130734_45130736delAAG	uc002xsa.3	-	3	1773_1775	c.1311_1313delCTT	c.(1309-1314)ttcttt>ttt	p.437_438FF>F	ZNF334_uc002xsb.3_In_Frame_Del_p.376_377FF>F|ZNF334_uc002xsd.3_In_Frame_Del_p.376_377FF>F|ZNF334_uc002xsc.3_In_Frame_Del_p.414_415FF>F|ZNF334_uc010ghl.3_In_Frame_Del_p.413_414FF>F			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AGATTGACAAAAGAAGGTTTTCT	0.424													41	158	---	---	---	---						-	45130736	AAG	-	45130734	7	5	21	1	0	1	0	1	0	0	0	0	17848	14	1	0	802	0	ZNF334	20	45130734	In_Frame_Del	DEL	AAG	TCGA-DB-5274-01A-01D-1468-08		45130734	17894786	61	861											
PREX1	57580	broad.mit.edu	37	chr20	47305216	47305216	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaagaaagcacttggggAcagtgctcagctttctccgg	9	9	12	11	1	2	1	1	0	1	1	3	2	2	2	2	3	4	3	2	3	2	2			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr20:47305216A>G	uc002xtw.1	-	9	1336	c.1313T>C	c.(1312-1314)gTc>gCc	p.V438A		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	438	DEP 1.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCACTTGGGGACAGTGCTCAG	0.562													9	88					0	0	1	0	0	G	47305216	A	G	47305216	3	3	21	1	0	0	0	0	1	0	0	0	12476	275	10	3	3790	3	PREX1	20	47305216	Missense_Mutation	SNP	A	TCGA-DB-5274-01A-01D-1468-08	2174482	47305216	15720304	62	862											
MXRA5	25878	broad.mit.edu	37	chrX	3228182	3228182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccattgtccagaagagaaaCgcgtcccagggtttgggggc	9	7	15	10	2	0	2	0	0	0	2	2	3	2	2	3	3	1	1	3	3	2	2			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:3228182C>T	uc004crg.4	-	6	8219	c.8062G>A	c.(8062-8064)Gtt>Att	p.V2688I		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2688	Ig-like C2-type 11.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGAAGAGAAACGCGTCCCAGG	0.627													48	74					0	0	1	0	0	T	3228182	C	T	3228182	3	4	21	1	0	0	0	0	1	0	0	0	10003	536	19	1	428	1	MXRA5	23	3228182	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08		3228182	152042378	63	863											
TLR7	51284	broad.mit.edu	37	chrX	12906720	12906720	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctggcagtgtctaaagaaCgccctggccacagacaatca	12	8	9	12	1	3	2	1	0	2	2	3	2	3	2	2	2	1	1	2	2	4	2			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:12906720C>T	uc004cvc.3	+	2	3232	c.3093C>T	c.(3091-3093)aaC>aaT	p.N1031N		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	1031	TIR.				I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	GTCTAAAGAACGCCCTGGCCA	0.517													77	161					0	0	1	0	0	T	12906720	C	T	12906720	2	4	21	1	0	0	0	0	0	0	0	1	15953	535	19	1		1	TLR7	23	12906720	Silent	SNP	C	TCGA-DB-5274-01A-01D-1468-08	9678538	12906720	142363840	64	864											
REPS2	9185	broad.mit.edu	37	chrX	17073015	17073015	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcattgtggctcggaagaaCggctacccattgcctgaggg	8	9	13	11	2	1	2	1	1	0	1	2	3	1	3	2	4	3	2	2	4	3	3			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:17073015C>T	uc004cxv.1	+	7	1227	c.1056C>T	c.(1054-1056)aaC>aaT	p.N352N	REPS2_uc004cxw.1_Silent_p.N351N|REPS2_uc011miw.1_Silent_p.N211N	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 2 (REPS2), transcript variant 1, mRNA.	352	EH 2.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					CTCGGAAGAACGGCTACCCAT	0.512													20	53					0	0	1	0	0	T	17073015	C	T	17073015	2	4	21	1	0	0	0	0	0	0	0	1	13229	535	19	1		1	REPS2	23	17073015	Silent	SNP	C	TCGA-DB-5274-01A-01D-1468-08	4166295	17073015	138197545	65	865											
PTCHD1	139411	broad.mit.edu	37	chrX	23353202	23353202	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagatcgagcgcaacctcgtTaacagcctcttcccggtcaa	11	8	8	14	4	2	1	1	0	1	1	5	2	3	1	3	1	4	2	3	1	4	2			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:23353202T>G	uc004dal.4	+	0	218	c.210T>G	c.(208-210)gtT>gtG	p.V70V	PTCHD1_uc010nfu.2_Silent_p.V70V	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	70					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GCAACCTCGTTAACAGCCTCT	0.657													4	68					0	0	1	0	0	G	23353202	T	G	23353202	2	3	21	1	0	0	0	0	0	0	0	1	12732	1741	61	5		5	PTCHD1	23	23353202	Silent	SNP	T	TCGA-DB-5274-01A-01D-1468-08	6280187	23353202	131917358	66	866											
ZNF41	7592	broad.mit.edu	37	chrX	47307606	47307606	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattcagcacacatatagggTttttccccagtatgagtttt	10	15	7	9	0	1	1	1	1	0	0	2	1	2	1	2	1	1	4	2	1	3	8			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:47307606T>G	uc004dhs.4	-	3	1756	c.1689A>C	c.(1687-1689)aaA>aaC	p.K563N	ZNF41_uc004dhu.4_Missense_Mutation_p.K555N|ZNF41_uc004dht.4_Missense_Mutation_p.K435N|ZNF41_uc004dhv.4_Missense_Mutation_p.K531N|ZNF41_uc004dhw.4_Missense_Mutation_p.K523N|ZNF41_uc004dhy.4_Missense_Mutation_p.K521N|ZNF41_uc004dhx.4_Missense_Mutation_p.K521N|ZNF41_uc011mlm.2_Missense_Mutation_p.K435N	NM_153380	NP_700359	P51814	ZNF41_HUMAN	Homo sapiens zinc finger protein 41 (ZNF41), transcript variant 2, mRNA.	563						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ACATATAGGGTTTTTCCCCAG	0.418													22	193					0	0	1	0	0	G	47307606	T	G	47307606	3	3	21	1	0	0	0	0	1	0	0	0	17886	1722	60	5	780	5	ZNF41	23	47307606	Missense_Mutation	SNP	T	TCGA-DB-5274-01A-01D-1468-08	23954404	47307606	107962954	67	867											
OGT	8473	broad.mit.edu	37	chrX	70756047	70756050	+	Frame_Shift_Del	DEL	TTCC	TTCC	-																															gaaccaacgaaacgtatgctTtccttccaagggttagctga																										TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:70756047_70756050delTTCC	uc004eaa.2	+	1	295_298	c.57_60delTTCC	c.(55-60)ctttccfs	p.L19fs	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Intron|OGT_uc011mpw.2_Frame_Shift_Del_p.L19fs	NM_181672	NP_858058	O15294	OGT1_HUMAN	Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.	19					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	MLL5-L complex|cytosol	enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					AACGTATGCTTTCCTTCCAAGGGT	0.426													44	87	---	---	---	---						-	70756050	TTCC	-	70756047	7	5	21	1	0	1	0	1	0	0	0	0	10847	1828	64	0	63	0	OGT	23	70756047	Frame_Shift_Del	DEL	TTCC	TCGA-DB-5274-01A-01D-1468-08	23448441	70756047	84514513	68	868											
GLUD2	2747	broad.mit.edu	37	chrX	120181766	120181766	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagggcttcttcgatcgCggcgccagcatcgtggagga	6	8	17	10	5	1	0	0	0	1	0	4	4	1	3	1	5	1	2	1	5	0	2			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:120181766C>T	uc004eto.3	+	0	305	c.228C>T	c.(226-228)cgC>cgT	p.R76R		NM_012084	NP_036216	P49448	DHE4_HUMAN	Homo sapiens glutamate dehydrogenase 2 (GLUD2), nuclear gene encoding mitochondrial protein, mRNA.	76					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|GTP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	TCTTCGATCGCGGCGCCAGCA	0.647													13	129					0	0	1	0	0	T	120181766	C	T	120181766	2	4	21	1	0	0	0	0	0	0	0	1	6477	755	27	1		1	GLUD2	23	120181766	Silent	SNP	C	TCGA-DB-5274-01A-01D-1468-08	49425719	120181766	35088794	69	869											
GRIA3	2892	broad.mit.edu	37	chrX	122561827	122561827	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattgttggaggggtttggtGgttcttcaccctgatcataa	7	15	12	7	0	3	1	2	1	1	0	3	2	3	2	1	5	0	3	1	5	1	6			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:122561827G>A	uc004etq.4	+	11	2205	c.1913G>A	c.(1912-1914)tGg>tAg	p.W638*	GRIA3_uc004etr.4_Nonsense_Mutation_p.W638*|GRIA3_uc004ets.4_Non-coding_Transcript	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	638					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	GGGGTTTGGTGGTTCTTCACC	0.443													16	306					0	0	1	0	0	A	122561827	G	A	122561827	4	1	21	1	0	0	0	0	0	1	0	0	6769	1357	47	3	1959	3	GRIA3	23	122561827	Nonsense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	2380061	122561827	32708733	70	870											
MAGEC1	9947	broad.mit.edu	37	chrX	140996036	140996036	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgggctactttcctgtgaTcttcaggaaagcccgtgagt	8	11	11	11	2	2	2	1	2	1	0	3	3	3	3	2	2	2	1	2	2	2	3			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:140996036T>C	uc004fbt.3	+	3	3170	c.2846T>C	c.(2845-2847)aTc>aCc	p.I949T	MAGEC1_uc010nsl.2_Missense_Mutation_p.I16T|MAGEC1_uc022cfi.1_Missense_Mutation_p.I608T	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	949	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCTGTGATCTTCAGGAAA	0.463										HNSCC(15;0.026)			11	291					0	0	1	0	0	C	140996036	T	C	140996036	3	2	21	1	0	0	0	0	1	0	0	0	9180	1435	50	3	2852	3	MAGEC1	23	140996036	Missense_Mutation	SNP	T	TCGA-DB-5274-01A-01D-1468-08	18434209	140996036	14274524	71	871											
SLITRK4	139065	broad.mit.edu	37	chrX	142717275	142717275	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctttcacaacaatcccgtcGctcaacttctccacccacag	10	10	3	18	2	4	0	2	0	2	0	7	0	5	0	3	0	2	1	3	0	3	2			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:142717275G>A	uc022cfm.1	-	0	1650	c.1650C>T	c.(1648-1650)agC>agT	p.S550S	SLITRK4_uc022cfl.1_Silent_p.S550S|SLITRK4_uc004fbx.3_Silent_p.S550S|SLITRK4_uc004fby.3_Silent_p.S550S	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	550	LRRCT 2.					integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CAATCCCGTCGCTCAACTTCT	0.438													82	152					0	0	1	0	0	A	142717275	G	A	142717275	2	1	21	1	0	0	0	0	0	0	0	1	14745	1078	38	1		1	SLITRK4	23	142717275	Silent	SNP	G	TCGA-DB-5274-01A-01D-1468-08	1721239	142717275	12553285	72	872											
BGN	633	broad.mit.edu	37	chrX	152770259	152770259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacccggactctgtcacacCcacctacagcgccatgtgtc	8	7	9	17	2	2	0	1	0	1	0	3	2	2	2	4	2	2	0	4	2	1	1			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:152770259C>T	uc004fhr.2	+	1	406	c.170C>T	c.(169-171)cCc>cTc	p.P57L		NM_001711	NP_001702	P21810	PGS1_HUMAN	Homo sapiens biglycan (BGN), mRNA.	57						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTGTCACACCCACCTACAGC	0.622													79	98					0	0	1	0	0	T	152770259	C	T	152770259	3	4	21	1	0	0	0	0	1	0	0	0	1418	623	22	3	172	3	BGN	23	152770259	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08	10052984	152770259	2500301	73	873											
MTHFR	4524	broad.mit.edu	37	chr1	11854817	11854817	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggaactcgtcccactcctGggtacggtagatgtaactct	9	10	11	11	2	1	1	0	0	1	1	4	2	3	2	2	3	3	3	2	3	4	3			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:11854817G>T	uc001atb.1	-	5	1402	c.1204C>A	c.(1204-1206)Cag>Aag	p.Q402K	MTHFR_uc001atc.2_Missense_Mutation_p.Q379K	NM_005957	NP_005948	P42898	MTHR_HUMAN	Homo sapiens methylenetetrahydrofolate reductase (NAD(P)H) (MTHFR), mRNA.	379					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	TCCCACTCCTGGGTACGGTAG	0.582													11	174					1.58986e-06	2.01383e-06	0.361761	1	0	T	11854817	G	T	11854817	3	4	22	1	0	0	0	0	1	0	0	0	9931	1357	47	5	859	5	MTHFR	1	11854817	Missense_Mutation	SNP	G	TCGA-DB-5275-01A-01D-1468-08		11854817	237395804	1	874											
ARID1A	8289	broad.mit.edu	37	chr1	27100207	27100207	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagcagcagcagcagcaaCggtgagtaaagcctggtctc	12	5	13	11	1	1	1	0	1	1	0	2	1	1	1	1	2	8	7	1	2	3	1			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:27100207C>T	uc001bmv.1	+	16	4377	c.4004_splice	c.e16+1	p.R1335_splice	ARID1A_uc001bmt.1_Splice_Site_p.R1334_splice|ARID1A_uc001bmu.1_Splice_Site_p.R1335_splice|ARID1A_uc001bmw.1_Splice_Site_p.R952_splice|ARID1A_uc001bmx.1_Splice_Site_p.R181_splice|ARID1A_uc009vsm.1_Splice_Site|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1335	Gln-rich.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.R1335*(2)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		gcagcagcaACGGTGAGTAAA	0.577			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								10	52					0	0	0.361761	0	0	T	27100207	C	T	27100207	5	4	22	1	0	0	0	0	0	0	1	0	913	550	19	1	4065	1	ARID1A	1	27100207	Splice_Site	SNP	C	TCGA-DB-5275-01A-01D-1468-08	15245390	27100207	222150414	2	875											
PHC2	1912	broad.mit.edu	37	chr1	33797964	33797966	+	In_Frame_Del	DEL	CTT	CTT	-																															ggcaggaacccctgtgcataCttcttcttgagattccccac																										TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:33797964_33797966delCTT	uc009vuh.1	-	10	2290_2292	c.1801_1803delAAG	c.(1801-1803)aagdel	p.K601del	PHC2_uc001bxg.1_In_Frame_Del_p.K600del|PHC2_uc001bxh.1_In_Frame_Del_p.K572del|PHC2_uc001bxe.1_In_Frame_Del_p.K65del|PHC2_uc001bxf.1_In_Frame_Del_p.K15del	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	Homo sapiens polyhomeotic homolog 2 (Drosophila) (PHC2), transcript variant 1, mRNA.	600					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCTGTGCATACTTCTTCTTGAGA	0.581													129	259	---	---	---	---						-	33797966	CTT	-	33797964	7	5	22	1	0	1	0	1	0	0	0	0	11817	564	20	0	796	0	PHC2	1	33797964	In_Frame_Del	DEL	CTT	TCGA-DB-5275-01A-01D-1468-08	6697757	33797964	215452657	3	876											
USP21	27005	broad.mit.edu	37	chr1	161132502	161132504	+	In_Frame_Del	DEL	CTT	CTT	-																															ttccagaaatatgttccctcCttctctggatacaggtggga																										TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:161132502_161132504delCTT	uc010pkc.2	+	5	1256_1258	c.879_881delCTT	c.(877-882)tccttc>tcc	p.F294del	USP21_uc010pkd.2_In_Frame_Del_p.F294del|USP21_uc021pbv.1_5'Flank	NM_001014443	NP_036607	Q9UK80	UBP21_HUMAN	Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA.	294					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	NEDD8-specific protease activity|metal ion binding|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ATGTTCCCTCCTTCTCTGGATAC	0.557													10	84	---	---	---	---						-	161132504	CTT	-	161132502	7	5	22	1	0	1	0	1	0	0	0	0	17050	668	24	0	893	0	USP21	1	161132502	In_Frame_Del	DEL	CTT	TCGA-DB-5275-01A-01D-1468-08	127334538	161132502	88118119	4	877											
DUSP27	92235	broad.mit.edu	37	chr1	167097454	167097454	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggtccacgtacaacgagaCctcaagttcccgagaggaga	13	5	11	12	3	1	3	1	0	0	3	3	6	3	3	3	2	2	2	3	2	3	2			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:167097454C>A	uc001geb.1	+	4	3102	c.3086C>A	c.(3085-3087)aCc>aAc	p.T1029N		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	1029	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TACAACGAGACCTCAAGTTCC	0.562													32	66					1.62565e-12	2.13016e-12	0.760397	1	0	A	167097454	C	A	167097454	3	1	22	1	0	0	0	0	1	0	0	0	4824	507	18	5	3104	5	DUSP27	1	167097454	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	5964952	167097454	82153167	5	878											
KIFAP3	22920	broad.mit.edu	37	chr1	170003639	170003639	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccatgaaattgagaaaagcTttaaagaagacattttaata	19	12	6	4	0	0	4	0	2	0	3	1	5	1	4	1	0	1	1	1	0	8	6			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:170003639T>A	uc001ggv.3	-	7	889	c.618_splice	c.e7-1	p.S206_splice	KIFAP3_uc021pep.1_Splice_Site_p.S166_splice|KIFAP3_uc010ply.2_Splice_Site_p.S128_splice|KIFAP3_uc001ggw.2_Splice_Site_p.S162_splice	NM_014970	NP_001191446	Q92845	KIFA3_HUMAN	Homo sapiens kinesin-associated protein 3 (KIFAP3), transcript variant 1, mRNA.	206					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGAGAAAAGCTTTAAAGAAGA	0.284													29	38					0	0	0.760397	0	0	A	170003639	T	A	170003639	5	1	22	1	0	0	0	0	0	0	1	0	8311	1623	56	5	1818	5	KIFAP3	1	170003639	Splice_Site	SNP	T	TCGA-DB-5275-01A-01D-1468-08	2906185	170003639	79246982	6	879											
RGS13	6003	broad.mit.edu	37	chr1	192627429	192627429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctataagaaaattgcctcaCggtggagcagaatttctagg	13	10	10	8	1	2	2	1	0	1	2	2	3	2	3	2	3	2	1	2	3	6	5			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:192627429C>T	uc001gsj.3	+	5	521	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	RGS13_uc001gsk.3_Missense_Mutation_p.R76W	NM_002927	NP_658912	O14921	RGS13_HUMAN	Homo sapiens regulator of G-protein signaling 13 (RGS13), transcript variant 1, mRNA.	76	RGS.					plasma membrane	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						AATTGCCTCACGGTGGAGCAG	0.413													11	91					0	0	0.411799	0	0	T	192627429	C	T	192627429	3	4	22	1	0	0	0	0	1	0	0	0	13296	527	19	1	236	1	RGS13	1	192627429	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	22623790	192627429	56623192	7	880											
PTPRC	5788	broad.mit.edu	37	chr1	198677313	198677313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaagttgaaaaagcagataCtactatttgtttaaaatgga	18	12	7	4	0	0	2	0	1	0	1	0	3	0	3	0	1	3	3	0	1	8	7			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:198677313C>T	uc001gur.1	+	9	1130	c.950C>T	c.(949-951)aCt>aTt	p.T317I	PTPRC_uc001gut.1_Missense_Mutation_p.T156I|PTPRC_uc009wzf.1_Missense_Mutation_p.T205I|PTPRC_uc021pgy.1_Missense_Mutation_p.T271I|PTPRC_uc010ppg.1_Missense_Mutation_p.T253I	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	317					B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AAAGCAGATACTACTATTTGT	0.294													51	72					0	0	0.870114	0	0	T	198677313	C	T	198677313	3	4	22	1	0	0	0	0	1	0	0	0	12797	565	20	3	995	3	PTPRC	1	198677313	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	6049884	198677313	50573308	8	881											
SULT1C3	442038	broad.mit.edu	37	chr2	108881449	108881449	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggaccactccatctcccctTttatgaggaaaggtagataa	12	11	8	10	0	1	2	0	1	1	1	3	4	2	4	4	3	0	1	4	3	4	4			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr2:108881449T>C	uc010ywo.2	+	5	790	c.790T>C	c.(790-792)Ttt>Ctt	p.F264L		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	264						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						CATCTCCCCTTTTATGAGGAA	0.408													6	153					0	0	0.27861	0	0	C	108881449	T	C	108881449	3	2	22	1	0	0	0	0	1	0	0	0	15375	1841	64	3	812	3	SULT1C3	2	108881449	Missense_Mutation	SNP	T	TCGA-DB-5275-01A-01D-1468-08		108881449	134317924	9	882											
SCN2A	6326	broad.mit.edu	37	chr2	166223805	166223805	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggtggaatttgaggaaaaCatgctataagatagtggagc	14	10	13	4	0	0	2	0	1	0	1	0	5	0	5	0	4	3	1	0	4	6	4			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr2:166223805C>A	uc002udc.3	+	18	3889	c.3599C>A	c.(3598-3600)aCa>aAa	p.T1200K	SCN2A_uc002udd.3_Missense_Mutation_p.T1200K|SCN2A_uc002ude.3_Missense_Mutation_p.T1200K	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1200					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TTGAGGAAAACATGCTATAAG	0.418													3	104					6.4e-05	7.84516e-05	0.115264	1	0	A	166223805	C	A	166223805	3	1	22	1	0	0	0	0	1	0	0	0	13916	478	17	5	3765	5	SCN2A	2	166223805	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	57342356	166223805	76975568	10	883											
TTN	7273	broad.mit.edu	37	chr2	179422826	179422826	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaaatctcatggttgccttAagggggacaccatctcttga	10	13	9	9	0	2	1	1	1	2	0	4	2	2	2	2	3	1	1	2	3	3	4			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr2:179422826A>G	uc021vsy.1	-	276	79776	c.79551T>C	c.(79549-79551)ctT>ctC	p.L26517L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.L20212L|TTN_uc021vta.1_Silent_p.L20145L|TTN_uc021vtb.1_Silent_p.L20020L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27444	Fibronectin type-III 93.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTTGCCTTAAGGGGGACAC	0.413													7	175					0	0	0.248553	0	0	G	179422826	A	G	179422826	2	3	22	1	0	0	0	0	0	0	0	1	16732	349	13	3		3	TTN	2	179422826	Silent	SNP	A	TCGA-DB-5275-01A-01D-1468-08	13199021	179422826	63776547	11	884											
ZSWIM2	151112	broad.mit.edu	37	chr2	187702143	187702143	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actagtttgctagagtttttGaattcctccaaaatcagttt	11	17	6	7	0	1	2	1	1	0	1	3	2	3	2	2	0	1	4	2	0	5	7			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr2:187702143G>A	uc002upu.1	-	4	673	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	211					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TAGAGTTTTTGAATTCCTCCA	0.393													6	147					0	0	0.248553	0	0	A	187702143	G	A	187702143	2	1	22	1	0	0	0	0	0	0	0	1	18238	1281	45	3		3	ZSWIM2	2	187702143	Silent	SNP	G	TCGA-DB-5275-01A-01D-1468-08	8279317	187702143	55497230	12	885											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								49	81					0	0	0.870114	0	0	T	209113112	C	T	209113112	3	4	22	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	21410969	209113112	34086261	13	886											
PER2	8864	broad.mit.edu	37	chr2	239185809	239185809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgggttgtgttcagattttgCcatcatcaggctaaaggtat	9	15	11	6	0	3	1	3	0	0	1	3	1	3	1	1	3	1	4	1	3	3	6			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr2:239185809C>T	uc002vyc.3	-	2	493	c.256G>A	c.(256-258)Gca>Aca	p.A86T	PER2_uc010znv.1_Missense_Mutation_p.A86T|PER2_uc010znw.1_Missense_Mutation_p.A86T|PER2_uc010fyx.1_Missense_Mutation_p.A86T	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	86					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	p.A86T(2)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TCAGATTTTGCCATCATCAGG	0.383													5	477					0	0	0.184627	0	0	T	239185809	C	T	239185809	3	4	22	1	0	0	0	0	1	0	0	0	11730	739	26	3	3595	3	PER2	2	239185809	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	30072697	239185809	4013564	14	887											
SETD5	55209	broad.mit.edu	37	chr3	9476091	9476091	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggagacagcccgaactCtgaaggagaaactgtaccta	13	7	11	10	1	1	3	0	1	1	2	1	6	1	3	2	2	4	1	2	2	5	2			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr3:9476091C>A	uc003brt.3	+	4	686	c.251C>A	c.(250-252)tCt>tAt	p.S84Y	SETD5_uc003brs.1_Missense_Mutation_p.S65Y|SETD5_uc003bru.3_5'UTR|SETD5_uc003brv.3_5'UTR	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	84										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGCCCGAACTCTGAAGGAGAA	0.532													28	56					7.07758e-08	9.11688e-08	0.681144	1	0	A	9476091	C	A	9476091	3	1	22	1	0	0	0	0	1	0	0	0	14134	913	32	5	261	5	SETD5	3	9476091	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08		9476091	188546339	15	888											
ARPP21	10777	broad.mit.edu	37	chr3	35758847	35758847	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tataagaaaagacagctcttTcggttggtatggtttacttt	11	16	9	5	1	1	2	0	0	1	2	2	2	1	2	0	3	2	4	0	3	6	8			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr3:35758847T>C	uc011axy.2	+	10	1103	c.891T>C	c.(889-891)ttT>ttC	p.F297F	ARPP21_uc003cga.3_Intron|ARPP21_uc003cgb.3_Silent_p.F331F|ARPP21_uc003cgf.3_Silent_p.F132F	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	331						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GACAGCTCTTTCGGTTGGTAT	0.308													3	162					0	0	0.184627	0	0	C	35758847	T	C	35758847	2	2	22	1	0	0	0	0	0	0	0	1	978	1780	62	3		3	ARPP21	3	35758847	Silent	SNP	T	TCGA-DB-5275-01A-01D-1468-08	26282756	35758847	162263583	16	889											
DNAJB11	51726	broad.mit.edu	37	chr3	186302222	186302222	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccctttggttttctaggtaCatatttcccgggataagatc	8	16	8	9	1	1	1	0	0	1	1	4	2	3	2	2	3	1	2	2	3	4	8			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr3:186302222C>A	uc003fqi.3	+	8	1591	c.856C>A	c.(856-858)Cat>Aat	p.H286N		NM_016306	NP_057390	Q9UBS4	DJB11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 11 (DNAJB11), mRNA.	286					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TTTCTAGGTACATATTTCCCG	0.468													3	67					6.4e-05	7.84516e-05	0.115264	1	0	A	186302222	C	A	186302222	3	1	22	1	0	0	0	0	1	0	0	0	4616	478	17	5	890	5	DNAJB11	3	186302222	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	150543375	186302222	11720208	17	890											
SRP72	6731	broad.mit.edu	37	chr4	57340227	57340227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttattattcagttataccGtttggaacgctatgatgaat	12	17	7	5	2	1	2	1	2	0	0	1	3	1	3	1	1	2	3	1	1	7	8			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr4:57340227G>A	uc003hbv.3	+	3	402	c.362G>A	c.(361-363)cGt>cAt	p.R121H	SRP72_uc010ihe.3_Missense_Mutation_p.R121H	NM_006947	NP_008878	O76094	SRP72_HUMAN	Homo sapiens signal recognition particle 72kDa (SRP72), mRNA.	121					SRP-dependent cotranslational protein targeting to membrane|response to drug	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CAGTTATACCGTTTGGAACGC	0.353													23	27					0	0	0.717897	0	0	A	57340227	G	A	57340227	3	1	22	1	0	0	0	0	1	0	0	0	15156	1145	40	1	376	1	SRP72	4	57340227	Missense_Mutation	SNP	G	TCGA-DB-5275-01A-01D-1468-08		57340227	133814049	18	891											
BBS12	166379	broad.mit.edu	37	chr4	123664857	123664857	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatacctttcaactctcctaTataacactgccaattactca	14	13	1	13	0	3	0	2	0	1	0	4	0	3	0	3	0	5	0	3	0	8	6			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr4:123664857T>C	uc021xrm.1	+	2	2191	c.1810T>C	c.(1810-1812)Tat>Cat	p.Y604H	BBS12_uc003ieu.3_Missense_Mutation_p.Y604H|BBS12_uc021xrn.1_Missense_Mutation_p.Y604H	NM_001178007	NP_689831	Q6ZW61	BBS12_HUMAN	Homo sapiens Bardet-Biedl syndrome 12 (BBS12), transcript variant 1, mRNA.	604					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AACTCTCCTATATAACACTGC	0.408									Bardet-Biedl syndrome				6	85					0	0	0.217242	0	0	C	123664857	T	C	123664857	3	2	22	1	0	0	0	0	1	0	0	0	1337	1406	49	3	1812	3	BBS12	4	123664857	Missense_Mutation	SNP	T	TCGA-DB-5275-01A-01D-1468-08	66324630	123664857	67489419	19	892											
RAD50	10111	broad.mit.edu	37	chr5	131940537	131940537	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcgtaagcttatacaggAccagcaggaacagattcaac	16	7	9	9	1	1	1	1	0	0	1	2	4	1	3	1	2	5	3	1	2	6	4			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr5:131940537A>G	uc003kxi.3	+	15	2965	c.2564A>G	c.(2563-2565)gAc>gGc	p.D855G	RAD50_uc003kxh.3_Missense_Mutation_p.D716G	NM_005732	NP_005723	Q92878	RAD50_HUMAN	Homo sapiens RAD50 homolog (S. cerevisiae) (RAD50), mRNA.	855					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTATACAGGACCAGCAGGAA	0.333								Homologous recombination					18	45					0	0	0.557998	0	0	G	131940537	A	G	131940537	3	3	22	1	0	0	0	0	1	0	0	0	12984	275	10	3	2626	3	RAD50	5	131940537	Missense_Mutation	SNP	A	TCGA-DB-5275-01A-01D-1468-08		131940537	48974723	20	893											
DNAH8	1769	broad.mit.edu	37	chr6	38830127	38830127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgcaggacctgctggcactgGcaaaacagaaaccacaaaag	16	3	10	12	1	0	1	0	0	0	1	0	2	0	2	2	3	3	4	2	3	5	0			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr6:38830127G>A	uc021yzh.1	+	43	6312	c.6203G>A	c.(6202-6204)gGc>gAc	p.G2068D	DNAH8_uc003ooe.2_Missense_Mutation_p.G1851D	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCTGGCACTGGCAAAACAGAA	0.463													4	209					0	0	0.150653	0	0	A	38830127	G	A	38830127	3	1	22	1	0	0	0	0	1	0	0	0	4607	1203	42	3	5710	3	DNAH8	6	38830127	Missense_Mutation	SNP	G	TCGA-DB-5275-01A-01D-1468-08		38830127	132284940	21	894											
TPBG	7162	broad.mit.edu	37	chr6	83075717	83075717	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacctggactgtgacccgAttcttcccccatccctgcaa	7	10	7	17	1	1	2	0	2	1	0	3	4	3	3	5	1	1	1	5	1	1	2			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr6:83075717A>G	uc003pjn.4	+	2	1975	c.1039A>G	c.(1039-1041)Att>Gtt	p.I347V	TPBG_uc003pjo.3_Missense_Mutation_p.I347V|TPBG_uc021zcc.1_Missense_Mutation_p.I347V	NM_006670	NP_006661	Q13641	TPBG_HUMAN	Homo sapiens trophoblast glycoprotein (TPBG), transcript variant 1, mRNA.	347					cell adhesion	integral to plasma membrane		p.P346Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		CTGTGACCCGATTCTTCCCCC	0.507													6	135					0	0	0.217242	0	0	G	83075717	A	G	83075717	3	3	22	1	0	0	0	0	1	0	0	0	16391	333	12	3	1041	3	TPBG	6	83075717	Missense_Mutation	SNP	A	TCGA-DB-5275-01A-01D-1468-08	44245590	83075717	88039350	22	895											
MCHR2	84539	broad.mit.edu	37	chr6	100382335	100382335	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcataaaattaaaatatagcAcaccaaaatcaagggtagag	21	7	7	6	0	1	1	1	0	0	1	1	1	1	1	1	1	1	3	1	1	10	5			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr6:100382335A>G	uc003pqh.1	-	4	961	c.646T>C	c.(646-648)Tgc>Cgc	p.C216R	MCHR2_uc003pqi.1_Missense_Mutation_p.C216R	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	216						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AAAATATAGCACACCAAAATC	0.323													90	132					0	0	0.870114	0	0	G	100382335	A	G	100382335	3	3	22	1	0	0	0	0	1	0	0	0	9383	159	6	3	384	3	MCHR2	6	100382335	Missense_Mutation	SNP	A	TCGA-DB-5275-01A-01D-1468-08	17306618	100382335	70732732	23	896											
STK31	56164	broad.mit.edu	37	chr7	23768774	23768792	+	Frame_Shift_Del	DEL	TTCCTTTGGAGCTGCAGTT	TTCCTTTGGAGCTGCAGTT	-																															tcgatctgatatagttgaaaTtcctttggagctgcagtttt																										TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr7:23768774_23768792delTTCCTTTGGAGCTGCAGTT	uc003sws.4	+	5	456_474	c.389_407delTTCCTTTGGAGCTGCAGTT	c.(388-408)attcctttggagctgcagtttfs	p.I130fs	STK31_uc003swt.4_Frame_Shift_Del_p.I107fs|STK31_uc011jze.2_Frame_Shift_Del_p.I130fs|STK31_uc010kuq.3_Frame_Shift_Del_p.I107fs	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	130	Tudor.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATAGTTGAAATTCCTTTGGAGCTGCAGTTTTCTAGTGTT	0.356													19	125	---	---	---	---						-	23768792	TTCCTTTGGAGCTGCAGTT	-	23768774	7	5	22	1	0	1	0	1	0	0	0	0	15295	1493	52	0	411	0	STK31	7	23768774	Frame_Shift_Del	DEL	TTCCTTTGGAGCTGCAGTT	TCGA-DB-5275-01A-01D-1468-08		23768774	135369889	24	897											
ANLN	54443	broad.mit.edu	37	chr7	36445820	36445820	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagctcactcttctcacCaatgccatcagaggaaaagg	14	8	8	11	0	4	2	3	1	2	1	5	3	4	3	2	2	2	1	2	2	4	1			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr7:36445820C>A	uc003tff.3	+	3	722	c.518C>A	c.(517-519)cCa>cAa	p.P173Q	ANLN_uc011kaz.2_Missense_Mutation_p.P85Q|ANLN_uc003tfg.3_Missense_Mutation_p.P173Q|ANLN_uc010kxe.3_Missense_Mutation_p.P173Q	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	173	Nuclear localization.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CTCTTCTCACCAATGCCATCA	0.453													4	162					0.150653	0.17089	0.150653	1	0	A	36445820	C	A	36445820	3	1	22	1	0	0	0	0	1	0	0	0	694	594	21	5	532	5	ANLN	7	36445820	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	12677046	36445820	122692843	25	898											
ZNF277	11179	broad.mit.edu	37	chr7	111936282	111936284	+	Splice_Site	DEL	AGA	AGA	-																															tgttttcctaatctctcaacAgaagaacaagagaattattt																										TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr7:111936282_111936284delAGA	uc003vge.2	+	4	512	c.383_splice	c.e4-1	p.E128_splice	ZNF277_uc003vgd.3_Splice_Site_p.E128_splice|ZNF277_uc003vgf.2_Splice_Site_p.E50_splice	NM_021994	NP_068834	Q9NRM2	ZN277_HUMAN	Homo sapiens zinc finger protein 277 (ZNF277), mRNA.	128						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						ATCTCTCAACAGAAGAACAAGAG	0.3													13	241	---	---	---	---						-	111936284	AGA	-	111936282	8	5	22	1	0	1	0	1	0	0	1	0	17809	202	7	0	395	0	ZNF277	7	111936282	Splice_Site	DEL	AGA	TCGA-DB-5275-01A-01D-1468-08	75490462	111936282	47202381	26	899											
C7orf58	79974	broad.mit.edu	37	chr7	120629721	120629721	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtcggcgattttgccccCgacccttcttggtgggctta	3	13	12	13	4	1	0	0	0	1	0	3	2	1	0	3	3	1	1	3	3	1	5			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr7:120629721C>T	uc003vjq.4	+	1	493	c.46C>T	c.(46-48)Cga>Tga	p.R16*	C7orf58_uc003vjr.1_Nonsense_Mutation_p.R16*|C7orf58_uc003vjs.4_Nonsense_Mutation_p.R16*	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	16						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					ATTTTGCCCCCGACCCTTCTT	0.597													71	94					0	0	0.870114	0	0	T	120629721	C	T	120629721	4	4	22	1	0	0	0	0	0	1	0	0	2405	644	23	2	48	2	C7orf58	7	120629721	Nonsense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	8693439	120629721	38508942	27	900											
UBN2	254048	broad.mit.edu	37	chr7	138982568	138982568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggggacactaaattaccaCggaaatctcagtgactgccc	14	7	9	11	1	1	1	1	1	1	0	2	3	1	3	2	3	2	0	2	3	5	2			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr7:138982568C>T	uc011kqr.2	+	17	4030	c.4030C>T	c.(4030-4032)Cgg>Tgg	p.R1344W		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	1344										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TAAATTACCACGGAAATCTCA	0.418													23	41					0	0	0.717897	0	0	T	138982568	C	T	138982568	3	4	22	1	0	0	0	0	1	0	0	0	16890	527	19	1	4100	1	UBN2	7	138982568	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	18352847	138982568	20156095	28	901											
RECQL4	9401	broad.mit.edu	37	chr8	145740580	145740580	+	Frame_Shift_Del	DEL	T	T	-																															tcctgcccagggcgaaaggcTtggtgccccagctgctccag																										TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr8:145740580delT	uc003zdj.3	-	7	1479	c.1437delA	c.(1435-1437)caafs	p.Q479fs	LRRC14_uc003zdk.2_5'Flank|LRRC14_uc003zdl.2_5'Flank	NM_004260	NP_004251	O94761	RECQ4_HUMAN	Homo sapiens RecQ protein-like 4 (RECQL4), mRNA.	479					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|bubble DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GGCGAAAGGCTTGGTGCCCCA	0.637			"N, F, S"			"osteosarcoma, skin basal and sqamous cell"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				5	2	---	---	---	---						-	145740580	T	-	145740580	7	5	22	1	0	1	0	1	0	0	0	0	13202	1606	56	0	2246	0	RECQL4	8	145740580	Frame_Shift_Del	DEL	T	TCGA-DB-5275-01A-01D-1468-08		145740580	623442	29	902											
GLDC	2731	broad.mit.edu	37	chr9	6644691	6644691	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcgatcaattcatcaatgCtctaaaattaaaacgcaagg	16	11	5	9	2	5	0	3	0	2	0	6	1	5	0	0	1	2	2	0	1	7	3			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr9:6644691C>T	uc003zkc.3	-	2	449	c.256_splice	c.e2-1	p.S86_splice		NM_000170	NP_000161	P23378	GCSP_HUMAN	Homo sapiens glycine dehydrogenase (decarboxylating) (GLDC), nuclear gene encoding mitochondrial protein, mRNA.	86					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TTCATCAATGCTCTAAAATTA	0.463													36	54					0	0	0.804634	0	0	T	6644691	C	T	6644691	5	4	22	1	0	0	0	0	0	0	1	0	6433	811	28	3	2901	3	GLDC	9	6644691	Splice_Site	SNP	C	TCGA-DB-5275-01A-01D-1468-08		6644691	134568740	30	903											
CTSL2	1515	broad.mit.edu	37	chr9	99795313	99795313	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttttacatagccattcgagCcccattctggaccccagctg	8	12	7	14	1	1	0	0	0	1	0	2	2	1	1	5	1	4	1	5	1	2	6			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr9:99795313C>A	uc010msi.3	-	7	1130	c.923G>T	c.(922-924)gGc>gTc	p.G308V	CTSL2_uc004awt.3_Missense_Mutation_p.G308V|CTSL2_uc004awu.3_Missense_Mutation_p.G253V	NM_001201575	NP_001188504	O60911	CATL2_HUMAN	Homo sapiens cathepsin L2 (CTSL2), transcript variant 2, mRNA.	308						lysosome	cysteine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(8)|lung(4)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(62;0.0559)				GCCATTCGAGCCCCATTCTGG	0.438													42	60					1.8453e-21	2.54986e-21	0.853193	1	0	A	99795313	C	A	99795313	3	1	22	1	0	0	0	0	1	0	0	0	4039	739	26	5	85	5	CTSL2	9	99795313	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	93150622	99795313	41418118	31	904											
ABCA1	19	broad.mit.edu	37	chr9	107593303	107593303	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgattgcctgctccaccaCatcctgcaagtaggcgaagc	10	8	10	13	1	0	1	0	1	0	0	2	3	2	1	4	1	4	3	4	1	3	2			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr9:107593303C>A	uc004bcl.3	-	13	2199	c.1795G>T	c.(1795-1797)Gtg>Ttg	p.V599L		NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	599					Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGCTCCACCACATCCTGCAAG	0.537													4	154					0.150653	0.17089	0.150653	1	0	A	107593303	C	A	107593303	3	1	22	1	0	0	0	0	1	0	0	0	28	478	17	5	5138	5	ABCA1	9	107593303	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	7797990	107593303	33620128	32	905											
API5	8539	broad.mit.edu	37	chr11	43348086	43348087	+	Frame_Shift_Del	DEL	AT	AT	-																															cattccacaaggtttgtgacAtatttctgtgagcaggttct																										TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr11:43348086_43348087delAT	uc010rfh.1	+	6	953_954	c.780_781delAT	c.(778-783)acatatfs	p.T260fs	API5_uc001mxf.2_Frame_Shift_Del_p.T260fs|API5_uc010rfg.1_Frame_Shift_Del_p.T249fs|API5_uc010rfi.1_Frame_Shift_Del_p.T206fs|API5_uc021qgi.1_Intron|API5_uc001mxg.3_Frame_Shift_Del_p.T134fs	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN	Homo sapiens apoptosis inhibitor 5 (API5), transcript variant 1, mRNA.	260					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						GGTTTGTGACATATTTCTGTGA	0.376													70	166	---	---	---	---						-	43348087	AT	-	43348086	7	5	22	1	0	1	0	1	0	0	0	0	773	204	8	0	806	0	API5	11	43348086	Frame_Shift_Del	DEL	AT	TCGA-DB-5275-01A-01D-1468-08		43348086	91658430	33	906											
TCIRG1	10312	broad.mit.edu	37	chr11	67815190	67815192	+	In_Frame_Del	DEL	ACA	ACA	-																															catctacaccggcttcatctAcaacgagtgcttcagtcgcg																										TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr11:67815190_67815192delACA	uc001one.3	+	11	1511_1513	c.1382_1384delACA	c.(1381-1386)tacaac>tac	p.N462del	TCIRG1_uc001ong.3_In_Frame_Del_p.N246del|TCIRG1_uc021qmm.1_In_Frame_Del_p.N13del|TCIRG1_uc009ysd.3_5'Flank	NM_006019	NP_006044	Q13488	VPP3_HUMAN	Homo sapiens T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 (TCIRG1), transcript variant 1, mRNA.	462			Missing (in OPTB1).		ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						GGCTTCATCTACAACGAGTGCTT	0.64													26	285	---	---	---	---						-	67815192	ACA	-	67815190	7	5	22	1	0	1	0	1	0	0	0	0	15700	391	14	0	1424	0	TCIRG1	11	67815190	In_Frame_Del	DEL	ACA	TCGA-DB-5275-01A-01D-1468-08	24467104	67815190	67191326	34	907											
GRAMD1B	57476	broad.mit.edu	37	chr11	123476150	123476153	+	Frame_Shift_Del	DEL	ACTA	ACTA	-																															aaatccatcaccaacagcacActaacatccacagggagcag																										TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr11:123476150_123476153delACTA	uc001pyw.2	+	9	1208_1211	c.879_882delACTA	c.(877-882)acactafs	p.T293fs	GRAMD1B_uc001pyx.2_Frame_Shift_Del_p.T286fs|GRAMD1B_uc010rzw.2_Frame_Shift_Del_p.T246fs|GRAMD1B_uc010rzx.1_Frame_Shift_Del_p.T246fs|GRAMD1B_uc009zbe.1_Frame_Shift_Del_p.T282fs|GRAMD1B_uc001pyy.2_5'Flank	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	Homo sapiens GRAM domain containing 1B (GRAMD1B), mRNA.	286						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CCAACAGCACACTAACATCCACAG	0.534													67	138	---	---	---	---						-	123476153	ACTA	-	123476150	7	5	22	1	0	1	0	1	0	0	0	0	6748	146	6	0	892	0	GRAMD1B	11	123476150	Frame_Shift_Del	DEL	ACTA	TCGA-DB-5275-01A-01D-1468-08	55660960	123476150	11530366	35	908											
ANO2	57101	broad.mit.edu	37	chr12	5860068	5860068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcactccaattacagaagatGggatgaggaatgatgtatat	15	11	10	5	0	1	4	1	2	0	2	2	6	2	6	1	2	1	1	1	2	6	3			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:5860068G>A	uc001qnm.2	-	10	1184	c.1112C>T	c.(1111-1113)cCa>cTa	p.P371L		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	376						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TACAGAAGATGGGATGAGGAA	0.348													4	68					0	0	0.184627	0	0	A	5860068	G	A	5860068	3	1	22	1	0	0	0	0	1	0	0	0	697	1348	47	3	1948	3	ANO2	12	5860068	Missense_Mutation	SNP	G	TCGA-DB-5275-01A-01D-1468-08		5860068	127991827	36	909											
CD163L1	283316	broad.mit.edu	37	chr12	7586027	7586027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttatggcttccccattcccGgtgttgacattcccagagag	7	12	10	12	1	0	2	0	1	0	1	3	3	3	2	4	2	0	3	4	2	1	5			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:7586027G>A	uc010sge.2	-	2	414	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	CD163L1_uc001qsy.3_Missense_Mutation_p.R130W	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	130	SRCR 1.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCCCATTCCCGGTGTTGACAT	0.438													6	212					0	0	0.217242	0	0	A	7586027	G	A	7586027	3	1	22	1	0	0	0	0	1	0	0	0	2968	1115	39	2	4041	2	CD163L1	12	7586027	Missense_Mutation	SNP	G	TCGA-DB-5275-01A-01D-1468-08	1725959	7586027	126265868	37	910											
STAT6	6778	broad.mit.edu	37	chr12	57493169	57493169	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggattcggtcccccagtgagCgaatggacaggtctttggca	8	9	14	10	2	1	1	0	1	1	0	3	4	2	3	2	5	1	1	2	5	1	2			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:57493169C>A	uc009zpg.3	-	15	1948	c.1946G>T	c.(1945-1947)cGc>cTc	p.R649L	STAT6_uc009zpe.3_Missense_Mutation_p.R600L|STAT6_uc001sna.3_Missense_Mutation_p.R600L|STAT6_uc009zpf.3_Missense_Mutation_p.R600L|STAT6_uc010srb.2_Missense_Mutation_p.R490L|STAT6_uc010src.2_Missense_Mutation_p.R490L|STAT6_uc010srd.2_Missense_Mutation_p.R490L	NM_001178081	NP_001171552	P42226	STAT6_HUMAN	Homo sapiens signal transducer and activator of transcription 6, interleukin-4 induced (STAT6), transcript variant 5, mRNA.	600					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.T649T(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CCCCAGTGAGCGAATGGACAG	0.532													3	95					0.150653	0.17089	0.150653	1	0	A	57493169	C	A	57493169	3	1	22	1	0	0	0	0	1	0	0	0	15269	768	27	5	772	5	STAT6	12	57493169	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	49907142	57493169	76358726	38	911											
TBK1	29110	broad.mit.edu	37	chr12	64891776	64891776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattaaaggaagagatggaaGgggtggttaaagaacttgct	16	9	14	2	0	0	2	0	0	0	2	0	5	0	4	0	5	2	2	0	5	8	3			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:64891776G>A	uc001ssc.2	+	19	2254	c.2095G>A	c.(2095-2097)Ggg>Agg	p.G699R		NM_013254	NP_037386	Q9UHD2	TBK1_HUMAN	Homo sapiens TANK-binding kinase 1 (TBK1), mRNA.	699					I-kappaB kinase/NF-kappaB cascade|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		AGAGATGGAAGGGGTGGTTAA	0.299													59	51					0	0	0.870114	0	0	A	64891776	G	A	64891776	3	1	22	1	0	0	0	0	1	0	0	0	15634	1000	35	3	2169	3	TBK1	12	64891776	Missense_Mutation	SNP	G	TCGA-DB-5275-01A-01D-1468-08	7398607	64891776	68960119	39	912											
C12orf63	374467	broad.mit.edu	37	chr12	97137849	97137849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcatcaaacactaaatatGcaaatccattacagcctttg	15	12	4	10	0	2	0	2	0	0	0	3	0	3	0	2	0	4	2	2	0	6	5			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:97137849G>A	uc021rcc.1	+	21	2962	c.2884G>A	c.(2884-2886)Gca>Aca	p.A962T				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	962										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CACTAAATATGCAAATCCATT	0.299													10	82					0	0	0.335167	0	0	A	97137849	G	A	97137849	3	1	22	1	0	0	0	0	1	0	0	0	1706	1319	46	3	2966	3	C12orf63	12	97137849	Missense_Mutation	SNP	G	TCGA-DB-5275-01A-01D-1468-08	32246073	97137849	36714046	40	913											
NUP37	79023	broad.mit.edu	37	chr12	102471196	102471196	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgctgacattaatggcActtgttctgattcaagagat	11	14	10	6	0	2	3	1	2	1	1	2	4	2	3	0	1	1	3	0	1	2	4			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:102471196A>C	uc001tjc.3	-	5	691	c.626T>G	c.(625-627)gTg>gGg	p.V209G	NUP37_uc009zub.1_Missense_Mutation_p.V209G	NM_024057	NP_076962	Q8NFH4	NUP37_HUMAN	Homo sapiens nucleoporin 37kDa (NUP37), mRNA.	209					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mRNA transport|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol	protein binding			endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						CATTAATGGCACTTGTTCTGA	0.403													6	191					0	0	0.248553	0	0	C	102471196	A	C	102471196	3	2	22	1	0	0	0	0	1	0	0	0	10764	159	6	5	370	5	NUP37	12	102471196	Missense_Mutation	SNP	A	TCGA-DB-5275-01A-01D-1468-08	5333347	102471196	31380699	41	914											
NOS1	4842	broad.mit.edu	37	chr12	117768410	117768410	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatgctgaggcccattcccGggacccgaggccccatccac	7	5	11	18	2	0	1	0	1	0	0	2	3	2	2	6	3	1	2	6	3	0	1			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:117768410G>A	uc001twn.2	-	1	1176	c.465C>T	c.(463-465)ccC>ccT	p.P155P	NOS1_uc001twm.2_Silent_p.P155P	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	155	Interaction with NOSIP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCCCATTCCCGGGACCCGAGG	0.701													43	64					0	0	0.870114	0	0	A	117768410	G	A	117768410	2	1	22	1	0	0	0	0	0	0	0	1	10541	1103	39	2		2	NOS1	12	117768410	Silent	SNP	G	TCGA-DB-5275-01A-01D-1468-08	15297214	117768410	16083485	42	915											
ZCCHC8	55596	broad.mit.edu	37	chr12	122958070	122958070	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaggcctttttgtttttctGctggtttcggggtgagttct	3	19	13	6	1	2	2	0	1	2	1	3	2	2	2	1	4	1	4	1	4	0	6			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:122958070G>C	uc001ucn.3	-	13	2254	c.2098C>G	c.(2098-2100)Cag>Gag	p.Q700E	ZCCHC8_uc001ucl.3_Missense_Mutation_p.Q311E|ZCCHC8_uc001ucm.3_Missense_Mutation_p.Q462E|ZCCHC8_uc009zxp.3_Missense_Mutation_p.Q462E|ZCCHC8_uc009zxq.3_Missense_Mutation_p.Q462E	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN	Homo sapiens zinc finger, CCHC domain containing 8 (ZCCHC8), mRNA.	700						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TTGTTTTTCTGCTGGTTTCGG	0.373													33	54					0	0	0.740014	0	0	C	122958070	G	C	122958070	3	2	22	1	0	0	0	0	1	0	0	0	17591	1328	46	5	29	5	ZCCHC8	12	122958070	Missense_Mutation	SNP	G	TCGA-DB-5275-01A-01D-1468-08	5189660	122958070	10893825	43	916											
DNAH10	196385	broad.mit.edu	37	chr12	124401043	124401043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgacttcctcaagcagctaGagatgtccataaagtacggg	12	9	10	10	1	1	2	1	1	0	1	3	3	3	2	2	1	3	3	2	1	5	4			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:124401043G>A	uc001uft.4	+	61	10433	c.10408G>A	c.(10408-10410)Gag>Aag	p.E3470K		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3470	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAAGCAGCTAGAGATGTCCAT	0.453													13	169					0	0	0.479597	0	0	A	124401043	G	A	124401043	3	1	22	1	0	0	0	0	1	0	0	0	4598	943	33	3	10654	3	DNAH10	12	124401043	Missense_Mutation	SNP	G	TCGA-DB-5275-01A-01D-1468-08	1442973	124401043	9450852	44	917											
PARP2	10038	broad.mit.edu	37	chr14	20818733	20818733	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actatctgattcagctattaGaagatgatgcccagaggaac	14	10	9	8	0	2	5	1	2	1	3	2	6	2	6	1	1	3	1	1	1	5	4			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr14:20818733G>T	uc001vxc.3	+	4	440	c.412G>T	c.(412-414)Gaa>Taa	p.E138*	PARP2_uc001vxb.1_Nonsense_Mutation_p.E138*|PARP2_uc001vxd.3_Nonsense_Mutation_p.E125*	NM_005484	NP_005475	Q9UGN5	PARP2_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 2 (PARP2), transcript variant 1, mRNA.	138					protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		TCAGCTATTAGAAGATGATGC	0.368								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					4	154					0.00909568	0.0109726	0.150653	1	0	T	20818733	G	T	20818733	4	4	22	1	0	0	0	0	0	1	0	0	11461	943	33	5	430	5	PARP2	14	20818733	Nonsense_Mutation	SNP	G	TCGA-DB-5275-01A-01D-1468-08		20818733	86530807	45	918											
MAGEL2	54551	broad.mit.edu	37	chr15	23890478	23890478	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggcagcagaggggcctttAaaggcattcagagaggcagg	12	5	17	7	0	1	2	1	0	0	2	1	4	1	2	1	6	1	4	1	6	2	3			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr15:23890478A>G	uc001ywj.4	-	0	2516	c.2412T>C	c.(2410-2412)ttT>ttC	p.F804F		NM_019066	NP_061939			Homo sapiens MAGE-like 2 (MAGEL2), mRNA.											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AGGGGCCTTTAAAGGCATTCA	0.577													7	130					0	0	0.27861	0	0	G	23890478	A	G	23890478	2	3	22	1	0	0	0	0	0	0	0	1	9189	359	13	3		3	MAGEL2	15	23890478	Silent	SNP	A	TCGA-DB-5275-01A-01D-1468-08		23890478	78640914	46	919											
APBA2	321	broad.mit.edu	37	chr15	29390775	29390775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggttttaaatgcagacaCgcaggtaagcgtttaagaca	15	9	10	7	2	0	2	0	0	0	2	0	2	0	2	0	2	2	5	0	2	5	5			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr15:29390775C>T	uc001zck.3	+	7	1538	c.1334C>T	c.(1333-1335)aCg>aTg	p.T445M	APBA2_uc010azj.2_Missense_Mutation_p.T433M|APBA2_uc010uat.2_Missense_Mutation_p.T433M|APBA2_uc001zcl.3_Missense_Mutation_p.T433M|APBA2_uc001zcm.1_Missense_Mutation_p.T137M	NM_005503	NP_005494	Q99767	APBA2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 2 (APBA2), transcript variant 1, mRNA.	445	PID.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AATGCAGACACGCAGGTAAGC	0.478													29	42					0	0	0.706142	0	0	T	29390775	C	T	29390775	3	4	22	1	0	0	0	0	1	0	0	0	757	536	19	1	1356	1	APBA2	15	29390775	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	5500297	29390775	73140617	47	920											
FBN1	2200	broad.mit.edu	37	chr15	48795985	48795985	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccatgataccacataccTgaattctgtgcaggacacgg	11	10	8	12	1	2	2	0	2	2	0	3	3	2	3	3	2	3	1	3	2	3	3			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr15:48795985T>C	uc001zwx.2	-	17	2508	c.2113_splice	c.e17+1	p.A705_splice		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	705	TB 3.		A -> T (in MFS).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACCACATACCTGAATTCTGTG	0.483													40	71					0	0	0.853193	0	0	C	48795985	T	C	48795985	5	2	22	1	0	0	0	0	0	0	1	0	5702	1594	55	4	6703	4	FBN1	15	48795985	Splice_Site	SNP	T	TCGA-DB-5275-01A-01D-1468-08	19405210	48795985	53735407	48	921											
VPS13C	54832	broad.mit.edu	37	chr15	62302717	62302717	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tattttgtatttctatgttgCaatccagtttgggcgttttg	6	21	9	5	1	1	0	0	0	1	0	2	0	2	0	1	1	1	5	1	1	4	10			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr15:62302717C>A	uc002agz.3	-	12	1056	c.965G>T	c.(964-966)tGc>tTc	p.C322F	VPS13C_uc002aha.3_Missense_Mutation_p.C279F|VPS13C_uc002ahb.2_Missense_Mutation_p.C322F|VPS13C_uc002ahc.2_Missense_Mutation_p.C279F	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	322					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTCTATGTTGCAATCCAGTTT	0.393													55	120					3.19069e-20	4.33022e-20	0.870114	1	0	A	62302717	C	A	62302717	3	1	22	1	0	0	0	0	1	0	0	0	17188	710	25	5	10616	5	VPS13C	15	62302717	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	13506732	62302717	40228675	49	922											
PRSS54	221191	broad.mit.edu	37	chr16	58324919	58324919	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactcgctcaggatgcagccGaaagccaggtgtgtgtactg	10	8	13	10	2	1	0	1	0	0	0	2	2	1	1	2	2	5	3	2	2	3	1			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr16:58324919G>A	uc002enf.3	-	3	602	c.207C>T	c.(205-207)ttC>ttT	p.F69F	PRSS54_uc002eng.3_Silent_p.F69F|PRSS54_uc010vie.2_Intron	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	Homo sapiens protease, serine, 54 (PRSS54), mRNA.	69	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGATGCAGCCGAAAGCCAGGT	0.627													5	133					0	0	0.184627	0	0	A	58324919	G	A	58324919	2	1	22	1	0	0	0	0	0	0	0	1	12633	1049	37	2		2	PRSS54	16	58324919	Silent	SNP	G	TCGA-DB-5275-01A-01D-1468-08		58324919	32029834	50	923											
ZFHX3	463	broad.mit.edu	37	chr16	72821213	72821213	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatagtcgtctgttggcatCgagggctgaacccctgaggt	8	10	14	9	2	1	2	0	2	1	0	3	4	1	2	2	3	1	3	2	3	3	2			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr16:72821213C>A	uc002fck.3	-	9	11635	c.10962G>T	c.(10960-10962)tcG>tcT	p.S3654S	AK021563_uc002fcj.1_Non-coding_Transcript|ZFHX3_uc002fcl.3_Silent_p.S2740S	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3654					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTGTTGGCATCGAGGGCTGAA	0.602													5	234					0.014758	0.0175251	0.184627	1	0	A	72821213	C	A	72821213	2	1	22	1	0	0	0	0	0	0	0	1	17631	871	31	5		5	ZFHX3	16	72821213	Silent	SNP	C	TCGA-DB-5275-01A-01D-1468-08	14496294	72821213	17533540	51	924											
TP53	7157	broad.mit.edu	37	chr17	7577532	7577532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgtgatgatggtgaggatgGgcctccggttcatgccgccc	5	10	16	10	2	1	3	1	3	0	0	2	4	2	4	4	4	1	1	4	4	0	1			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr17:7577532G>A	uc002gim.2	-	6	943	c.749C>T	c.(748-750)cCc>cTc	p.P250L	TP53_uc002gig.1_Missense_Mutation_p.P250L|TP53_uc002gih.3_Missense_Mutation_p.P250L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.P118L|TP53_uc010cnf.1_Missense_Mutation_p.P118L|TP53_uc002gii.1_Missense_Mutation_p.P118L|TP53_uc010cni.1_Missense_Mutation_p.P250L|TP53_uc010cnh.1_Missense_Mutation_p.P250L|TP53_uc002gij.2_Missense_Mutation_p.P250L|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.P157L|TP53_uc002gio.2_Missense_Mutation_p.P118L|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.	250	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R249S(326)|p.P250L(86)|p.R249W(31)|p.R249M(31)|p.R249G(28)|p.R249K(16)|p.R249T(16)|p.P250S(12)|p.0?(8)|p.P250H(7)|p.P250F(6)|p.R249fs*96(6)|p.R249R(6)|p.?(5)|p.P250N(4)|p.M246_P250delMNRRP(4)|p.P250P(4)|p.P250_L252delPIL(4)|p.P250Q(4)|p.P250A(2)|p.N247_P250delNRRP(2)|p.R249fs*14(2)|p.R249_I251delRPI(2)|p.P250_T253delPILT(2)|p.R248_P250delRRP(2)|p.R249_T256delRPILTIIT(2)|p.R249_P250delRP(2)|p.P250_I251insXXXXXX(1)|p.R249fs*15(1)|p.P250T(1)|p.R249_P250insR(1)|p.N247_R249delNRR(1)|p.P250_I251insXXXXXXX(1)|p.I251fs*94(1)|p.R249_P250>SS(1)|p.P250_I251insX(1)|p.P250fs*14(1)|p.R249fs*19(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)		GGTGAGGATGGGCCTCCGGTT	0.577		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)			76	17					0	0	0.870114	0	0	A	7577532	G	A	7577532	3	1	22	1	0	0	0	0	1	0	0	0	16378	1232	43	3	541	3	TP53	17	7577532	Missense_Mutation	SNP	G	TCGA-DB-5275-01A-01D-1468-08		7577532	73617678	52	925											
C17orf48	56985	broad.mit.edu	37	chr17	10614361	10614361	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccagacagccaagcctttgGcacagttcatgtctatcctg	9	11	8	13	0	2	1	1	0	1	1	4	1	4	1	4	1	2	2	4	1	2	3			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr17:10614361G>C	uc002gmt.3	+	3	1004	c.929G>C	c.(928-930)gGc>gCc	p.G310A	C17orf48_uc002gmv.3_Non-coding_Transcript|C17orf48_uc002gmu.3_Non-coding_Transcript	NM_020233	NP_064618	Q3LIE5	ADPRM_HUMAN	Homo sapiens chromosome 17 open reading frame 48 (C17orf48), mRNA.	310							ADP-ribose diphosphatase activity|CDP-glycerol diphosphatase activity|metal ion binding			breast(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						CAAGCCTTTGGCACAGTTCAT	0.438													45	77					0	0	0.870114	0	0	C	10614361	G	C	10614361	3	2	22	1	0	0	0	0	1	0	0	0	1859	1203	42	5	939	5	C17orf48	17	10614361	Missense_Mutation	SNP	G	TCGA-DB-5275-01A-01D-1468-08	3036829	10614361	70580849	53	926											
SPOP	8405	broad.mit.edu	37	chr17	47688719	47688719	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgaaccgggaattctccCacagtcctcctaactcatct	9	11	6	15	1	3	1	1	1	2	0	6	2	5	2	4	1	2	0	4	1	3	2			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr17:47688719C>A	uc002ipg.3	-	5	878	c.581G>T	c.(580-582)tGg>tTg	p.W194L	SPOP_uc010dbk.3_Missense_Mutation_p.W194L|SPOP_uc002ipb.3_Missense_Mutation_p.W194L|SPOP_uc002ipc.3_Missense_Mutation_p.W194L|SPOP_uc002ipd.3_Missense_Mutation_p.W194L|SPOP_uc002ipe.3_Missense_Mutation_p.W194L|SPOP_uc002ipf.3_Missense_Mutation_p.W194L	NM_001007228	NP_003554	O43791	SPOP_HUMAN	Homo sapiens speckle-type POZ protein (SPOP), transcript variant 4, mRNA.	194	BTB.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GGAATTCTCCCACAGTCCTCC	0.488										Prostate(2;0.17)			5	320					0.184627	0.206348	0.184627	1	0	A	47688719	C	A	47688719	3	1	22	1	0	0	0	0	1	0	0	0	15083	595	21	5	563	5	SPOP	17	47688719	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	37074358	47688719	33506491	54	927											
SLC39A6	25800	broad.mit.edu	37	chr18	33706819	33706819	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtagatgatattgccgtgtgGaaattgccaagtcaacatta	13	12	10	6	1	1	2	1	1	0	1	1	3	1	3	2	1	3	1	2	1	6	5			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr18:33706819G>C	uc010dmy.3	-	1	442	c.152C>G	c.(151-153)tCc>tGc	p.S51C	SLC39A6_uc002kzj.2_Intron	NM_012319	NP_001092876	Q13433	S39A6_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 6 (SLC39A6), transcript variant 1, mRNA.	51						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TTGCCGTGTGGAAATTGCCAA	0.388													6	175					0	0	0.248553	0	0	C	33706819	G	C	33706819	3	2	22	1	0	0	0	0	1	0	0	0	14622	1174	41	5	2163	5	SLC39A6	18	33706819	Missense_Mutation	SNP	G	TCGA-DB-5275-01A-01D-1468-08		33706819	44370429	55	928											
MUC16	94025	broad.mit.edu	37	chr19	9069716	9069716	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttgccatgacacgcccttAgtacttctgctcatagtagt	8	14	7	12	1	2	1	1	1	1	0	2	1	2	1	2	0	3	3	2	0	4	6			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr19:9069716A>C	uc002mkp.3	-	2	17934	c.17730T>G	c.(17728-17730)acT>acG	p.T5910T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5912	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACACGCCCTTAGTACTTCTGC	0.498													68	125					0	0	0.870114	0	0	C	9069716	A	C	9069716	2	2	22	1	0	0	0	0	0	0	0	1	9973	407	15	5		5	MUC16	19	9069716	Silent	SNP	A	TCGA-DB-5275-01A-01D-1468-08		9069716	50059267	56	929											
RDH8	50700	broad.mit.edu	37	chr19	10127828	10127828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccgtggcccagctggacGtgtgcagtgatgagtcggtg	6	9	16	10	3	1	2	1	2	0	0	2	3	1	3	2	3	2	2	2	3	0	0			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr19:10127828G>A	uc002mmr.3	+	1	448	c.199G>A	c.(199-201)Gtg>Atg	p.V67M		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Homo sapiens retinol dehydrogenase 8 (all-trans) (RDH8), mRNA.	67					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	NADP-retinol dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CCAGCTGGACGTGTGCAGTGA	0.627													25	24					0	0	0.693898	0	0	A	10127828	G	A	10127828	3	1	22	1	0	0	0	0	1	0	0	0	13196	1145	40	1	205	1	RDH8	19	10127828	Missense_Mutation	SNP	G	TCGA-DB-5275-01A-01D-1468-08	1058112	10127828	49001155	57	930											
ILVBL	10994	broad.mit.edu	37	chr19	15228815	15228815	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccataggataggcggaagtCacacacagttcctggtgtgg	10	8	14	9	1	1	0	1	0	0	0	2	2	2	2	2	5	0	1	2	5	3	3			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr19:15228815C>G	uc002nam.3	-	9	1184	c.1063G>C	c.(1063-1065)Gac>Cac	p.D355H		NM_006844	NP_006835	A1L0T0	ILVBL_HUMAN	Homo sapiens ilvB (bacterial acetolactate synthase)-like (ILVBL), mRNA.	355						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						AGGCGGAAGTCACACACAGTT	0.522													6	115					0	0	0.217242	0	0	G	15228815	C	G	15228815	3	3	22	1	0	0	0	0	1	0	0	0	7715	826	29	5	863	5	ILVBL	19	15228815	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	5100987	15228815	43900168	58	931											
RBM39	9584	broad.mit.edu	37	chr20	34320047	34320047	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actacgacttctgctcttgcTttttttcctcctgagaagaa	8	16	6	11	1	2	2	0	1	2	2	4	4	4	2	2	0	3	2	2	0	3	6			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr20:34320047T>C	uc002xeb.3	-	3	521	c.112A>G	c.(112-114)Agc>Ggc	p.S38G	RBM39_uc002xdz.3_Missense_Mutation_p.S14G|RBM39_uc010gfn.3_5'UTR|RBM39_uc002xef.3_5'UTR|RBM39_uc010zvn.2_5'UTR|RBM39_uc002xec.3_Missense_Mutation_p.S38G|RBM39_uc010zvm.2_Missense_Mutation_p.S38G|RBM39_uc002xeg.3_Missense_Mutation_p.S38G|RBM39_uc002xed.3_5'UTR|RBM39_uc002xee.3_5'UTR	NM_184234	NP_909122	Q14498	RBM39_HUMAN	Homo sapiens RNA binding motif protein 39 (RBM39), transcript variant 1, mRNA.	38					RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nuclear speck	RNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					CTGCTCTTGCTTTTTTTCCTC	0.398													3	172					0	0	0.115264	0	0	C	34320047	T	C	34320047	3	2	22	1	0	0	0	0	1	0	0	0	13133	1609	56	4	1536	4	RBM39	20	34320047	Missense_Mutation	SNP	T	TCGA-DB-5275-01A-01D-1468-08		34320047	28705473	59	932											
ATRX	546	broad.mit.edu	37	chrX	76814305	76814305	+	Frame_Shift_Del	DEL	A	A	-																															cctgctttagtagaaatgatAaataatcgtcctctgaaaat																										TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chrX:76814305delA	uc004ecp.4	-	28	6571	c.6339delT	c.(6337-6339)tttfs	p.F2113fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.F2075fs|ATRX_uc004eco.4_Frame_Shift_Del_p.F1898fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2113	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.F2113fs*9(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TAGAAATGATAAATAATCGTC	0.289			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						54	12	---	---	---	---						-	76814305	A	-	76814305	7	5	22	1	0	1	0	1	0	0	0	0	1208	359	13	0	1167	0	ATRX	23	76814305	Frame_Shift_Del	DEL	A	TCGA-DB-5275-01A-01D-1468-08		76814305	78456255	60	933											
WDR3	10885	broad.mit.edu	37	chr1	118483783	118483783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaagctggttccataatgCgggaaggaagagacagagtt	15	7	14	5	1	0	2	0	0	0	2	1	6	1	4	1	3	2	3	1	3	5	3	rs150881258		TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr1:118483783C>T	uc010oxe.1	+	7	892	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	WDR3_uc001ehi.2_Intron|WDR3_uc001ehh.2_Missense_Mutation_p.R105W	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	Homo sapiens WD repeat domain 3 (WDR3), mRNA.	276						nuclear membrane|nucleolus		p.R276W(2)|p.R276L(1)		breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TTCCATAATGCGGGAAGGAAG	0.423													18	102					0	0	0.608945	0	0	T	118483783	C	T	118483783	3	4	23	1	0	0	0	0	1	0	0	0	17282	759	27	1	852	1	WDR3	1	118483783	Missense_Mutation	SNP	C	TCGA-DB-5276-01A-01D-1468-08		118483783	130766838	1	934											
GMCL1	64395	broad.mit.edu	37	chr2	70092031	70092031	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atattttatgtatatttttaGgcctcaagaaatcaataaag	16	16	5	4	0	2	1	2	0	0	1	2	1	2	1	1	1	0	1	1	1	10	9			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr2:70092031G>T	uc002sfu.3	+	11	1350	c.1143_splice	c.e11-1	p.G381_splice		NM_178439	NP_848526	Q96IK5	GMCL1_HUMAN	Homo sapiens germ cell-less homolog 1 (Drosophila) (GMCL1), mRNA.	381					cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						TATATTTTTAGGCCTCAAGAA	0.318													3	61					0.150653	0.15424	0.150653	1	0	T	70092031	G	T	70092031	5	4	23	1	0	0	0	0	0	0	1	0	6485	1014	35	5	1184	5	GMCL1	2	70092031	Splice_Site	SNP	G	TCGA-DB-5276-01A-01D-1468-08		70092031	173107342	2	935											
ALMS1	7840	broad.mit.edu	37	chr2	73800143	73800143	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatcaaattaaaattgaacaGattaaatttgataaatatat	22	14	3	2	0	1	3	1	2	0	1	1	3	1	3	0	0	1	0	0	0	11	7			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr2:73800143G>C	uc002sje.1	+	15	11247	c.11136G>C	c.(11134-11136)caG>caC	p.Q3712H	ALMS1_uc002sjf.1_Missense_Mutation_p.Q3670H|ALMS1_uc002sjg.3_Missense_Mutation_p.Q3100H|ALMS1_uc002sjh.1_Missense_Mutation_p.Q3100H	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	3712					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAATTGAACAGATTAAATTTG	0.373													16	83					0	0	0.520397	0	0	C	73800143	G	C	73800143	3	2	23	1	0	0	0	0	1	0	0	0	535	933	33	5	11198	5	ALMS1	2	73800143	Missense_Mutation	SNP	G	TCGA-DB-5276-01A-01D-1468-08	3708112	73800143	169399230	3	936											
XIRP2	129446	broad.mit.edu	37	chr2	168110545	168110545	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaatttttatttttagaagCtgctgctccaagacaaggaa	14	14	7	6	0	0	2	0	0	0	2	1	3	1	3	1	1	3	3	1	1	8	7			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr2:168110545C>G	uc002udx.3	+	9	10648	c.10559C>G	c.(10558-10560)gCt>gGt	p.A3520G	XIRP2_uc010fpn.3_Missense_Mutation_p.L427V|XIRP2_uc010fpo.3_Missense_Mutation_p.L394V|XIRP2_uc010fpq.3_Missense_Mutation_p.A3298G|XIRP2_uc010fpr.3_Missense_Mutation_p.L172V	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	3345					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTTTTAGAAGCTGCTGCTCCA	0.343													16	97					0	0	0.520397	0	0	G	168110545	C	G	168110545	3	3	23	1	0	0	0	0	1	0	0	0	17427	797	28	5	10593	5	XIRP2	2	168110545	Missense_Mutation	SNP	C	TCGA-DB-5276-01A-01D-1468-08	94310402	168110545	75088828	4	937											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr2:209113113G>A	uc002vcs.3	-	3	640	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_uc002vct.3_Missense_Mutation_p.R132C|IDH1_uc002vcu.3_Missense_Mutation_p.R132C	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								17	68					0	0	0.520397	0	0	A	209113113	G	A	209113113	3	1	23	1	0	0	0	0	1	0	0	0	7494	1058	37	2	878	2	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-DB-5276-01A-01D-1468-08	41002568	209113113	34086260	5	938											
BSN	8927	broad.mit.edu	37	chr3	49691063	49691064	+	Frame_Shift_Del	DEL	CT	CT	-																															gaccccctcaagctgcacagCtctcctgcctcccccagctc																										TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr3:49691063_49691064delCT	uc003cxe.4	+	4	4188_4189	c.4074_4075delCT	c.(4072-4077)agctctfs	p.S1358fs		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1358					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGCTGCACAGCTCTCCTGCCTC	0.629													8	170	---	---	---	---						-	49691064	CT	-	49691063	7	5	23	1	0	1	0	1	0	0	0	0	1530	796	28	0	4092	0	BSN	3	49691063	Frame_Shift_Del	DEL	CT	TCGA-DB-5276-01A-01D-1468-08		49691063	148331367	6	939											
CCDC158	339965	broad.mit.edu	37	chr4	77250102	77250102	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcttccctgtctcctgcGtgtaatgtgactggctctct	4	15	10	12	1	3	1	0	1	3	0	6	2	4	2	2	2	1	2	2	2	1	2	rs138548683	by1000genomes	TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr4:77250102G>A	uc003hkb.4	-	20	3102	c.2949C>T	c.(2947-2949)caC>caT	p.H983H		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	983	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TGTCTCCTGCGTGTAATGTGA	0.433													8	71					0	0	0.27861	0	0	A	77250102	G	A	77250102	2	1	23	1	0	0	0	0	0	0	0	1	2790	1136	40	1		1	CCDC158	4	77250102	Silent	SNP	G	TCGA-DB-5276-01A-01D-1468-08		77250102	113904174	7	940											
CPEB4	80315	broad.mit.edu	37	chr5	173316976	173316977	+	Frame_Shift_Del	DEL	AA	AA	-																															atcttggggtcagaaaaagcAaaaagtcagcaacaggaaca																										TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr5:173316976_173316977delAA	uc003mcs.4	+	0	1646_1647	c.240_241delAA	c.(238-243)gcaaaafs	p.A80fs	CPEB4_uc010jju.2_Frame_Shift_Del_p.A80fs|CPEB4_uc010jjv.3_Frame_Shift_Del_p.A80fs|CPEB4_uc011dfg.2_Frame_Shift_Del_p.A80fs	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 4 (CPEB4), mRNA.	80							RNA binding|nucleotide binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAGAAAAAGCAAAAAGTCAGCA	0.49													39	165	---	---	---	---						-	173316977	AA	-	173316976	7	5	23	1	0	1	0	1	0	0	0	0	3803	117	5	0	242	0	CPEB4	5	173316976	Frame_Shift_Del	DEL	AA	TCGA-DB-5276-01A-01D-1468-08		173316976	7598284	8	941											
TTYH3	80727	broad.mit.edu	37	chr7	2687233	2687234	+	Frame_Shift_Ins	INS	-	-	G																															aacacggcggtgtcgctggaINSggtgctggcggagcaggtgg																										TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr7:2687233_2687234insG	uc003smp.3	+	3	774_775	c.587_588insG	c.(586-588)gagfs	p.E196fs	TTYH3_uc010ksn.3_5'UTR|TTYH3_uc003smq.3_5'Flank	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN	Homo sapiens tweety homolog 3 (Drosophila) (TTYH3), mRNA.	196						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		GTGTCGCTGGAGGTGCTGGCGG	0.673													2	4	---	---	---	---						G	2687234	-	G	2687233	7	5	23	1	0	1	1	0	0	0	0	0	16738	304	11	0	601	0	TTYH3	7	2687233	Frame_Shift_Ins	INS	-	TCGA-DB-5276-01A-01D-1468-08		2687233	156451430	9	942											
SRRT	51593	broad.mit.edu	37	chr7	100482650	100482652	+	In_Frame_Del	DEL	AGG	AGG	-																															cggccaggctgaggaggagaAggaggaggccggtagggttt																										TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr7:100482650_100482652delAGG	uc003uwy.2	+	8	1415_1417	c.1148_1150delAGG	c.(1147-1152)aaggag>aag	p.E385del	SRRT_uc010lhl.1_In_Frame_Del_p.E385del|SRRT_uc003uxa.2_In_Frame_Del_p.E385del|SRRT_uc003uwz.2_In_Frame_Del_p.E385del	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	385	Glu-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GAGGAGGAGAAGGAGGAGGCCGG	0.581													15	342	---	---	---	---						-	100482652	AGG	-	100482650	7	5	23	1	0	1	0	1	0	0	0	0	15171	72	3	0	1178	0	SRRT	7	100482650	In_Frame_Del	DEL	AGG	TCGA-DB-5276-01A-01D-1468-08	97795417	100482650	58656013	10	943											
RBP3	5949	broad.mit.edu	37	chr10	48390167	48390167	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcgatgtcctcggccacGcccctggtctggctgctggt	2	10	14	15	4	1	0	0	0	1	0	3	1	2	0	4	4	2	2	4	4	0	0			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr10:48390167G>A	uc001jez.3	-	0	825	c.711C>T	c.(709-711)ggC>ggT	p.G237G		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	237	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.G237G(2)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCTCGGCCACGCCCCTGGTCT	0.657													25	64					0	0	0.639603	0	0	A	48390167	G	A	48390167	2	1	23	1	0	0	0	0	0	0	0	1	13157	1074	38	1		1	RBP3	10	48390167	Silent	SNP	G	TCGA-DB-5276-01A-01D-1468-08		48390167	87144580	11	944											
TNNT3	7140	broad.mit.edu	37	chr11	1956135	1956135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtttggggagaagctgaaaCgccagaaatatgacgtgagt	14	8	14	5	2	0	5	0	3	0	2	0	6	0	5	1	2	2	2	1	2	4	2			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr11:1956135C>T	uc001luu.4	+	13	879	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C	TNNT3_uc001lun.2_Missense_Mutation_p.R119C|TNNT3_uc001luw.4_Missense_Mutation_p.R215C|TNNT3_uc001luo.4_Missense_Mutation_p.R215C|TNNT3_uc001lup.4_Missense_Mutation_p.R221C|TNNT3_uc001luq.4_Missense_Mutation_p.R215C|TNNT3_uc001lur.3_Missense_Mutation_p.R215C|TNNT3_uc010qxf.2_Missense_Mutation_p.R221C|TNNT3_uc010qxg.2_Missense_Mutation_p.R155C	NM_006757	NP_006748	P45378	TNNT3_HUMAN	Homo sapiens troponin T type 3 (skeletal, fast) (TNNT3), transcript variant 1, mRNA.	234					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding	p.R223C(2)		breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		GAAGCTGAAACGCCAGAAATA	0.612													5	185					0	0	0.184627	0	0	T	1956135	C	T	1956135	3	4	23	1	0	0	0	0	1	0	0	0	16329	536	19	1	758	1	TNNT3	11	1956135	Missense_Mutation	SNP	C	TCGA-DB-5276-01A-01D-1468-08		1956135	133050381	12	945											
OR51V1	283111	broad.mit.edu	37	chr11	5221701	5221701	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccatgcacaggtcagtgAgggccagcatggacaggaag	11	4	15	11	0	1	1	1	1	0	0	1	3	1	3	3	4	2	2	3	4	1	0			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr11:5221701A>G	uc010qyz.2	-	0	230	c.230T>C	c.(229-231)cTc>cCc	p.L77P		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L77V(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGTCAGTGAGGGCCAGCAT	0.537													6	66					0	0	0.27861	0	0	G	5221701	A	G	5221701	3	3	23	1	0	0	0	0	1	0	0	0	11107	304	11	4	738	4	OR51V1	11	5221701	Missense_Mutation	SNP	A	TCGA-DB-5276-01A-01D-1468-08	3265566	5221701	129784815	13	946											
PRDM11	56981	broad.mit.edu	37	chr11	45245878	45245878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggcaaaagtccctacaagCgtggctttgatgagggggat	11	8	15	7	1	0	2	0	2	0	0	1	3	1	3	1	4	2	2	1	4	4	2			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr11:45245878C>T	uc001myo.3	+	7	1204	c.955C>T	c.(955-957)Cgt>Tgt	p.R319C		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	Homo sapiens PR domain containing 11 (PRDM11), mRNA.	319										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						TCCCTACAAGCGTGGCTTTGA	0.507													17	274					0	0	0.520397	0	0	T	45245878	C	T	45245878	3	4	23	1	0	0	0	0	1	0	0	0	12452	768	27	1	981	1	PRDM11	11	45245878	Missense_Mutation	SNP	C	TCGA-DB-5276-01A-01D-1468-08	40024177	45245878	89760638	14	947											
C11orf68	83638	broad.mit.edu	37	chr11	65685203	65685203	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaccctccttggcacgtggGctcaccttggccacctgaag	6	8	10	17	1	1	1	1	1	0	0	2	1	2	1	6	3	0	2	6	3	1	2			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr11:65685203G>T	uc001ogi.3	-	1	638	c.609C>A	c.(607-609)agC>agA	p.S203R	C11orf68_uc009yqv.3_Missense_Mutation_p.S202R|DRAP1_uc001ogj.2_5'Flank	NM_001135635	NP_001129107	Q9H3H3	CK068_HUMAN	Homo sapiens chromosome 11 open reading frame 68 (C11orf68), transcript variant 1, mRNA.	161										large_intestine(1)|lung(3)	4				READ - Rectum adenocarcinoma(159;0.166)		TGGCACGTGGGCTCACCTTGG	0.632													4	65					0.150653	0.15424	0.150653	1	0	T	65685203	G	T	65685203	3	4	23	1	0	0	0	0	1	0	0	0	1658	1194	42	5	276	5	C11orf68	11	65685203	Missense_Mutation	SNP	G	TCGA-DB-5276-01A-01D-1468-08	20439325	65685203	69321313	15	948											
C12orf40	283461	broad.mit.edu	37	chr12	40114882	40114885	+	Frame_Shift_Del	DEL	ACAA	ACAA	-																															gcaaggtgtgatgcagggatAcaaacagagagtgaatctgt																										TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr12:40114882_40114885delACAA	uc001rmc.3	+	12	1955_1958	c.1788_1791delACAA	c.(1786-1791)atacaafs	p.I596fs	C12orf40_uc009zjv.1_Intron	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	596										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ATGCAGGGATACAAACAGAGAGTG	0.402													23	110	---	---	---	---						-	40114885	ACAA	-	40114882	7	5	23	1	0	1	0	1	0	0	0	0	1686	381	14	0	1838	0	C12orf40	12	40114882	Frame_Shift_Del	DEL	ACAA	TCGA-DB-5276-01A-01D-1468-08		40114882	93737013	16	949											
ACTR10	55860	broad.mit.edu	37	chr14	58675824	58675824	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcttttcaaatattttgAggtacctgtctttatatcaa	10	20	5	6	0	4	1	2	1	2	0	4	1	4	1	1	1	1	2	1	1	6	10			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr14:58675824A>G	uc001xdf.3	+	4	445	c.342_splice	c.e4+1	p.E114_splice	C14orf37_uc010tro.2_Intron	NM_018477	NP_060947	Q9NZ32	ARP10_HUMAN	Homo sapiens actin-related protein 10 homolog (S. cerevisiae) (ACTR10), mRNA.	114						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						AAATATTTTGAGGTACCTGTC	0.333													5	113					0	0	0.184627	0	0	G	58675824	A	G	58675824	5	3	23	1	0	0	0	0	0	0	1	0	208	318	11	4	355	4	ACTR10	14	58675824	Splice_Site	SNP	A	TCGA-DB-5276-01A-01D-1468-08		58675824	48673716	17	950											
HEATR4	399671	broad.mit.edu	37	chr14	73989793	73989793	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcatgccccatcccagtcGtgggggcagtgactgataga	10	8	12	11	1	1	3	1	2	0	1	3	3	2	3	3	2	1	1	3	2	2	1			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr14:73989793G>A	uc021rwe.1	-	2	412	c.64C>T	c.(64-66)Cga>Tga	p.R22*	HEATR4_uc021rwf.1_5'UTR|HEATR4_uc010tub.1_Nonsense_Mutation_p.R22*	NM_001220484	NP_001207413			Homo sapiens HEAT repeat containing 4 (HEATR4), transcript variant 1, mRNA.											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CATCCCAGTCGTGGGGGCAGT	0.517													10	51					0	0	0.335167	0	0	A	73989793	G	A	73989793	4	1	23	1	0	0	0	0	0	1	0	0	7030	1160	40	1		1	HEATR4	14	73989793	Nonsense_Mutation	SNP	G	TCGA-DB-5276-01A-01D-1468-08	15313969	73989793	33359747	18	951											
BAIAP3	8938	broad.mit.edu	37	chr16	1397309	1397310	+	Frame_Shift_Ins	INS	-	-	T																															ctgccccaggccctggtcagINSttttttccacgcagagggtc																										TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr16:1397309_1397310insT	uc002clk.2	+	28	3025_3026	c.2867_2868insT	c.(2866-2868)agtfs	p.S956fs	BAIAP3_uc010uuz.2_Frame_Shift_Ins_p.S921fs|BAIAP3_uc010uva.2_Frame_Shift_Ins_p.S893fs|BAIAP3_uc021tag.1_Frame_Shift_Ins_p.S898fs|BAIAP3_uc002clj.3_Frame_Shift_Ins_p.S938fs|BAIAP3_uc010uvc.1_Frame_Shift_Ins_p.S885fs	NM_003933	NP_001186026	O94812	BAIP3_HUMAN	Homo sapiens BAI1-associated protein 3 (BAIAP3), transcript variant 1, mRNA.	956	MHD2.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GCCCTGGTCAGTTTTTTCCACG	0.639													12	60	---	---	---	---						T	1397310	-	T	1397309	7	5	23	1	0	1	1	0	0	0	0	0	1304	1029	36	0	2981	0	BAIAP3	16	1397309	Frame_Shift_Ins	INS	-	TCGA-DB-5276-01A-01D-1468-08		1397309	88957444	19	952											
ICT1	3396	broad.mit.edu	37	chr17	73016725	73016727	+	In_Frame_Del	DEL	AAG	AAG	-																															gacaccgaaggagccaacaaAagaagatgttaaacttcata																										TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr17:73016725_73016727delAAG	uc002jmm.3	+	4	511_513	c.509_511delAAG	c.(508-513)aaagaa>aaa	p.E171del		NM_001545	NP_001536	Q14197	ICT1_HUMAN	Homo sapiens immature colon carcinoma transcript 1 (ICT1), mRNA.	171					mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					GAGCCAACAAAAGAAGATGTTAA	0.473													18	60	---	---	---	---						-	73016727	AAG	-	73016725	7	5	23	1	0	1	0	1	0	0	0	0	7488	14	1	0	527	0	ICT1	17	73016725	In_Frame_Del	DEL	AAG	TCGA-DB-5276-01A-01D-1468-08		73016725	8178485	20	953											
LGALS13	29124	broad.mit.edu	37	chr19	40095291	40095291	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttggttcctgcgtgataaTcaaagggacaccaatccact	11	11	9	10	1	1	1	1	1	0	0	3	2	3	2	3	2	1	2	3	2	3	3			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr19:40095291T>A	uc002omb.3	+	1	105	c.65T>A	c.(64-66)aTc>aAc	p.I22N		NM_013268	NP_037400	Q9UHV8	PP13_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 13 (LGALS13), mRNA.	22	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			TGCGTGATAATCAAAGGGACA	0.473													6	138					0	0	0.248553	0	0	A	40095291	T	A	40095291	3	1	23	1	0	0	0	0	1	0	0	0	8740	1435	50	5	71	5	LGALS13	19	40095291	Missense_Mutation	SNP	T	TCGA-DB-5276-01A-01D-1468-08		40095291	19033692	21	954											
ZNF582	147948	broad.mit.edu	37	chr19	56901871	56901871	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgaacaattctgacccCtggaatgacaggcatgtatg	11	10	9	11	0	1	3	0	3	1	0	2	4	2	4	3	2	1	2	3	2	4	2			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr19:56901871C>T	uc002qmy.3	-	3	396	c.103_splice	c.e3-1	p.G35_splice	ZNF582_uc002qmz.1_Splice_Site_p.G4_splice	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	Homo sapiens zinc finger protein 582 (ZNF582), mRNA.	4	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		ATTCTGACCCCTGGAATGACA	0.488													4	110					0	0	0.150653	0	0	T	56901871	C	T	56901871	5	4	23	1	0	0	0	0	0	0	1	0	18011	695	24	3	1556	3	ZNF582	19	56901871	Splice_Site	SNP	C	TCGA-DB-5276-01A-01D-1468-08	16806580	56901871	2227112	22	955											
AURKC	6795	broad.mit.edu	37	chr19	57744018	57744018	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacaaggagctgcagaaaagCgagaaattagatgaacagcg	18	5	12	6	2	0	4	0	1	0	3	0	6	0	5	0	1	6	2	0	1	7	2	rs141028635		TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr19:57744018C>T	uc002qoe.3	+	3	594	c.405C>T	c.(403-405)agC>agT	p.S135S	AURKC_uc002qoc.3_Silent_p.S116S|AURKC_uc002qod.3_Silent_p.S101S|AURKC_uc010etv.3_Silent_p.S132S	NM_001015878	NP_003151	Q9UQB9	AURKC_HUMAN	Homo sapiens aurora kinase C (AURKC), transcript variant 1, mRNA.	135	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		TGCAGAAAAGCGAGAAATTAG	0.537													7	83					0	0	0.27861	0	0	T	57744018	C	T	57744018	2	4	23	1	0	0	0	0	0	0	0	1	1224	767	27	1		1	AURKC	19	57744018	Silent	SNP	C	TCGA-DB-5276-01A-01D-1468-08	842147	57744018	1384965	23	956											
TRMT6	51605	broad.mit.edu	37	chr20	5925533	5925533	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccatcatcaactatatttCgattatcagtgcccgcttct	9	15	4	13	2	4	0	3	0	1	0	6	1	5	0	2	0	2	1	2	0	4	5			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr20:5925533C>A	uc002wmh.1	-	2	406	c.284G>T	c.(283-285)cGa>cTa	p.R95L	TRMT6_uc010zra.1_Intron|TRMT6_uc010gbn.1_Intron|TRMT6_uc010gbo.1_Non-coding_Transcript	NM_015939	NP_057023	Q9UJA5	TRM6_HUMAN	Homo sapiens tRNA methyltransferase 6 homolog (S. cerevisiae) (TRMT6), mRNA.	95					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						AACTATATTTCGATTATCAGT	0.333													3	114					0.115264	0.123909	0.115264	1	0	A	5925533	C	A	5925533	3	1	23	1	0	0	0	0	1	0	0	0	16565	884	31	5	1245	5	TRMT6	20	5925533	Missense_Mutation	SNP	C	TCGA-DB-5276-01A-01D-1468-08		5925533	57099987	24	957											
BCOR	54880	broad.mit.edu	37	chrX	39922031	39922032	+	Frame_Shift_Del	DEL	CT	CT	-																															attctccacgtagtattcccCtgtcagtggcaatccccgcc																										TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chrX:39922031_39922032delCT	uc004den.4	-	8	4432_4433	c.4140_4141delAG	c.(4138-4143)acagggfs	p.T1380fs	BCOR_uc004dep.4_Frame_Shift_Del_p.T1346fs|BCOR_uc004deo.4_Frame_Shift_Del_p.T1328fs|BCOR_uc010nhb.3_Frame_Shift_Del_p.T88fs|BCOR_uc004dem.4_Frame_Shift_Del_p.T1346fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1380					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						TAGTATTCCCCTGTCAGTGGCA	0.579			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						14	27	---	---	---	---						-	39922032	CT	-	39922031	7	5	23	1	0	1	0	1	0	0	0	0	1386	681	24	0	1154	0	BCOR	23	39922031	Frame_Shift_Del	DEL	CT	TCGA-DB-5276-01A-01D-1468-08		39922031	115348529	25	958											
ATRX	546	broad.mit.edu	37	chrX	76939181	76939184	+	Frame_Shift_Del	DEL	AGGA	AGGA	-																															aaaaatgtcttctggaactgAggaaggaacagacacaatat																										TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chrX:76939181_76939184delAGGA	uc004ecp.4	-	8	1796_1799	c.1564_1567delTCCT	c.(1564-1569)tcctcafs	p.S522fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.S484fs|ATRX_uc004eco.4_Frame_Shift_Del_p.S307fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.S483fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.S522fs|ATRX_uc010nly.1_Frame_Shift_Del_p.S467fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	522					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCTGGAACTGAGGAAGGAACAGAC	0.407			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						72	204	---	---	---	---						-	76939184	AGGA	-	76939181	7	5	23	1	0	1	0	1	0	0	0	0	1208	304	11	0	6019	0	ATRX	23	76939181	Frame_Shift_Del	DEL	AGGA	TCGA-DB-5276-01A-01D-1468-08	37017150	76939181	78331379	26	959											
TBX22	50945	broad.mit.edu	37	chrX	79279563	79279563	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttattttctttcttacaggCggatgttcccctctgttcgg	4	18	8	11	2	3	0	0	0	3	0	5	1	4	1	2	3	1	2	2	3	2	7			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chrX:79279563C>T	uc010nmg.1	+	4	491	c.357_splice	c.e4-1	p.R119_splice	TBX22_uc004edi.1_Splice_Site|TBX22_uc004edj.1_Splice_Site_p.R119_splice	NM_001109878	NP_001103349	Q9Y458	TBX22_HUMAN	Homo sapiens T-box 22 (TBX22), transcript variant 1, mRNA.	119					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTCTTACAGGCGGATGTTCCC	0.483													21	24					0	0	0.592651	0	0	T	79279563	C	T	79279563	5	4	23	1	0	0	0	0	0	0	1	0	15655	782	27	1	368	1	TBX22	23	79279563	Splice_Site	SNP	C	TCGA-DB-5276-01A-01D-1468-08	2340382	79279563	75990997	27	960											
CHD5	26038	broad.mit.edu	37	chr1	6202211	6202212	+	Frame_Shift_Ins	INS	-	-	A																															atacggaataccttcttcccINSactccgaatggcgttgtcct																										TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr1:6202211_6202212insA	uc001amb.2	-	14	2523_2524	c.2412_2413insT	c.(2410-2415)agtgggfs	p.S804fs	CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	804	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ACCTTCTTCCCACTCCGAATGG	0.599													115	202	---	---	---	---						A	6202212	-	A	6202211	7	5	24	1	0	1	1	0	0	0	0	0	3328	594	21	0	3559	0	CHD5	1	6202211	Frame_Shift_Ins	INS	-	TCGA-DB-5277-01A-01D-1468-08		6202211	243048410	1	961											
HSPG2	3339	broad.mit.edu	37	chr1	22166420	22166420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccatggcgcccgtgtccaCgatcacctccacctgcttct	5	9	9	18	3	2	0	1	0	1	0	4	1	4	0	6	2	1	1	6	2	0	1			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr1:22166420C>T	uc009vqd.3	-	71	9647	c.9607G>A	c.(9607-9609)Gtg>Atg	p.V3203M	HSPG2_uc001bfj.3_Missense_Mutation_p.V3202M	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	3202	Ig-like C2-type 17.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCCGTGTCCACGATCACCTCC	0.587													112	181					0	0	1	0	0	T	22166420	C	T	22166420	3	4	24	1	0	0	0	0	1	0	0	0	7430	536	19	1	3675	1	HSPG2	1	22166420	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	15964209	22166420	227084201	2	962											
NLRP3	114548	broad.mit.edu	37	chr1	247582222	247582222	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagggctgcatccccctcccGaggggtcagacagagaaggc	10	4	14	13	1	1	2	1	0	0	2	3	4	3	2	3	4	1	2	3	4	2	0			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr1:247582222G>A	uc001icr.3	+	2	264	c.126G>A	c.(124-126)ccG>ccA	p.P42P	NLRP3_uc001ics.3_Silent_p.P42P|NLRP3_uc001icu.3_Silent_p.P42P|NLRP3_uc001icw.3_Silent_p.P42P|NLRP3_uc001icv.3_Silent_p.P42P|NLRP3_uc010pyw.2_Silent_p.P40P|NLRP3_uc001ict.1_Silent_p.P40P	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	42	DAPIN.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.P42Q(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCCCCCTCCCGAGGGGTCAGA	0.562													34	52					0	0	1	0	0	A	247582222	G	A	247582222	2	1	24	1	0	0	0	0	0	0	0	1	10478	1045	37	2		2	NLRP3	1	247582222	Silent	SNP	G	TCGA-DB-5277-01A-01D-1468-08	225415802	247582222	1668399	3	963											
NBAS	51594	broad.mit.edu	37	chr2	15555741	15555741	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctaaagttactaaatattCttttaatagctcattagcca	15	15	4	7	0	2	0	1	0	1	0	2	0	2	0	1	0	4	3	1	0	9	9			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr2:15555741C>G	uc002rcc.1	-	24	2892	c.2866G>C	c.(2866-2868)Gaa>Caa	p.E956Q	NBAS_uc010exl.1_Intron|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	956								p.K955N(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACTAAATATTCTTTTAATAGC	0.368													87	108					0	0	1	0	0	G	15555741	C	G	15555741	3	3	24	1	0	0	0	0	1	0	0	0	10186	922	32	5	4361	5	NBAS	2	15555741	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08		15555741	227643632	4	964											
VIT	5212	broad.mit.edu	37	chr2	37035632	37035632	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taggccgtgtgcagaacaaaCggcttctactcgctccacgt	9	9	10	13	4	1	1	0	0	1	1	3	1	2	1	2	2	4	3	2	2	4	3			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr2:37035632C>T	uc002rpl.3	+	14	1709	c.1407C>T	c.(1405-1407)aaC>aaT	p.N469N	VIT_uc002rpm.3_Silent_p.N454N|VIT_uc010ezv.3_Silent_p.N432N|VIT_uc010ezw.3_Silent_p.N433N	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	454	VWFA 1.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GCAGAACAAACGGCTTCTACT	0.622													24	51					0	0	1	0	0	T	37035632	C	T	37035632	2	4	24	1	0	0	0	0	0	0	0	1	17168	535	19	1		1	VIT	2	37035632	Silent	SNP	C	TCGA-DB-5277-01A-01D-1468-08	21479891	37035632	206163741	5	965											
KIAA1841	84542	broad.mit.edu	37	chr2	61315601	61315601	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatattgtctatattcacatAaggtgtcgtgaagataaaat	16	14	7	4	1	2	2	1	1	1	1	3	2	2	2	0	1	0	0	0	1	8	7			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr2:61315601A>C	uc002saw.4	+	9	1389	c.1086A>C	c.(1084-1086)atA>atC	p.I362I	KIAA1841_uc002sax.4_Silent_p.I216I|KIAA1841_uc002say.3_Silent_p.I362I|KIAA1841_uc002sav.4_Silent_p.I362I	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	Homo sapiens KIAA1841 (KIAA1841), transcript variant 1, mRNA.	362										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			ATATTCACATAAGGTGTCGTG	0.328													35	26					0	0	1	0	0	C	61315601	A	C	61315601	2	2	24	1	0	0	0	0	0	0	0	1	8261	352	13	5		5	KIAA1841	2	61315601	Silent	SNP	A	TCGA-DB-5277-01A-01D-1468-08	24279969	61315601	181883772	6	966											
ADAM23	8745	broad.mit.edu	37	chr2	207310230	207310230	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgacacaaaggcaagacaCcagcaaaaacataataaggt	20	5	7	9	0	0	2	0	1	0	1	0	2	0	2	1	2	2	2	1	2	6	3			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr2:207310230C>G	uc002vbq.3	+	1	637	c.414C>G	c.(412-414)caC>caG	p.H138Q	ADAM23_uc010ziv.2_Non-coding_Transcript	NM_003812	NP_003803	O75077	ADA23_HUMAN	Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA.	138					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGGCAAGACACCAGCAAAAAC	0.398													44	100					0	0	1	0	0	G	207310230	C	G	207310230	3	3	24	1	0	0	0	0	1	0	0	0	245	506	18	5	420	5	ADAM23	2	207310230	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	145994629	207310230	35889143	7	967											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								21	60					0	0	1	0	0	T	209113112	C	T	209113112	3	4	24	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	1802882	209113112	34086261	8	968											
SP100	6672	broad.mit.edu	37	chr2	231314895	231314895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttatctccagagtcctgcGaacaaattgctgtccaagtg	10	12	9	10	1	1	1	0	0	1	1	4	2	3	1	3	0	3	2	3	0	4	3			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr2:231314895G>A	uc002vqt.3	+	7	886	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	SP100_uc002vqs.3_Missense_Mutation_p.E249K|SP100_uc002vqu.1_Missense_Mutation_p.E249K|SP100_uc010zmb.2_Missense_Mutation_p.E249K|SP100_uc002vqq.2_Missense_Mutation_p.E249K|SP100_uc010zmc.2_Missense_Mutation_p.E224K|SP100_uc002vqv.2_Missense_Mutation_p.E214K	NM_003113	NP_003104	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA.	249					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of cellular component movement|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	PML body|cytoplasm|nuclear periphery|nucleolus	DNA binding|chromo shadow domain binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGAGTCCTGCGAACAAATTGC	0.473													75	59					0	0	1	0	0	A	231314895	G	A	231314895	3	1	24	1	0	0	0	0	1	0	0	0	14960	1059	37	2	775	2	SP100	2	231314895	Missense_Mutation	SNP	G	TCGA-DB-5277-01A-01D-1468-08	22201783	231314895	11884478	9	969											
GPR149	344758	broad.mit.edu	37	chr3	154145322	154145322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactttttttcccatcggacGccactgcatatgcgttctgc	6	15	7	13	3	1	0	0	0	1	0	3	1	2	1	2	1	4	2	2	1	2	6			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr3:154145322G>A	uc003faa.3	-	1	1257	c.1157C>T	c.(1156-1158)gCg>gTg	p.A386V		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	386						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CCCATCGGACGCCACTGCATA	0.488													37	6					0	0	1	0	0	A	154145322	G	A	154145322	3	1	24	1	0	0	0	0	1	0	0	0	6654	1087	38	1	1050	1	GPR149	3	154145322	Missense_Mutation	SNP	G	TCGA-DB-5277-01A-01D-1468-08		154145322	43877108	10	970											
SPEF2	79925	broad.mit.edu	37	chr5	35709170	35709170	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaagagaaggaaattcAtcaaagccatgtggcttcaa	19	7	9	6	0	3	2	3	0	0	2	3	4	3	3	1	2	1	1	1	2	6	2			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr5:35709170A>G	uc003jjo.3	+	18	2897	c.2786A>G	c.(2785-2787)cAt>cGt	p.H929R	SPEF2_uc003jjq.4_Missense_Mutation_p.H924R|SPEF2_uc003jjp.1_Missense_Mutation_p.H415R	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	929					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGGAAATTCATCAAAGCCAT	0.418													21	145					0	0	1	0	0	G	35709170	A	G	35709170	3	3	24	1	0	0	0	0	1	0	0	0	15034	217	8	3	2881	3	SPEF2	5	35709170	Missense_Mutation	SNP	A	TCGA-DB-5277-01A-01D-1468-08		35709170	145206090	11	971											
HEATR7B2	133558	broad.mit.edu	37	chr5	41045922	41045922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgaatggtccaggccaCatcactgatcttccataagg	11	9	9	12	0	2	2	1	2	1	0	4	2	4	2	3	3	1	1	3	3	2	2			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr5:41045922C>T	uc003jmj.4	-	17	2252	c.1762G>A	c.(1762-1764)Gtg>Atg	p.V588M	HEATR7B2_uc003jmi.4_Missense_Mutation_p.V143M	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	588							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						GTCCAGGCCACATCACTGATC	0.433													35	235					0	0	1	0	0	T	41045922	C	T	41045922	3	4	24	1	0	0	0	0	1	0	0	0	7035	478	17	3	3095	3	HEATR7B2	5	41045922	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	5336752	41045922	139869338	12	972											
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	chr5	139917069	139917069	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaacagagagactggccCgaattcggcaaggagggtct	11	7	15	8	2	1	2	0	0	1	2	2	6	1	4	1	5	1	1	1	5	3	2			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr5:139917069C>T	uc003lfs.2	+	30	7277	c.7123C>T	c.(7123-7125)Cga>Tga	p.R2375*	ANKHD1-EIF4EBP3_uc003lfr.3_Nonsense_Mutation_p.R2375*|ANKHD1-EIF4EBP3_uc011czh.1_Nonsense_Mutation_p.R1131*|ANKHD1-EIF4EBP3_uc003lfw.3_Nonsense_Mutation_p.R1030*|ANKHD1-EIF4EBP3_uc010jfl.3_Nonsense_Mutation_p.R751*|ANKHD1-EIF4EBP3_uc003lfx.1_Nonsense_Mutation_p.R529*	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	2375						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGACTGGCCCGAATTCGGCA	0.552													54	7					0	0	1	0	0	T	139917069	C	T	139917069	4	4	24	1	0	0	0	0	0	1	0	0	629	644	23	2	7245	2	ANKHD1-EIF4EBP3	5	139917069	Nonsense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	98871147	139917069	40998191	13	973											
CAPN11	11131	broad.mit.edu	37	chr6	44143869	44143869	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtgagagggcacgcttactCtgtgactggccttcaggatg	7	10	15	9	1	2	2	1	2	1	1	2	4	2	3	1	4	1	2	1	4	1	2			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr6:44143869C>G	uc003owt.1	+	7	934	c.896C>G	c.(895-897)tCt>tGt	p.S299C	CAPN11_uc011dvn.2_5'Flank	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	299	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACGCTTACTCTGTGACTGGC	0.542													17	31					0	0	1	0	0	G	44143869	C	G	44143869	3	3	24	1	0	0	0	0	1	0	0	0	2624	913	32	5	926	5	CAPN11	6	44143869	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08		44143869	126971198	14	974											
HTR1B	3351	broad.mit.edu	37	chr6	78172156	78172156	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtagccaacacacaataaagGctcccaaaatgatccctagg	16	6	7	12	0	0	1	0	1	0	0	2	1	2	1	3	2	2	2	3	2	8	3			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr6:78172156G>T	uc003pil.1	-	0	965	c.965C>A	c.(964-966)gCc>gAc	p.A322D		NM_000863	NP_000854	P28222	5HT1B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1B (HTR1B), mRNA.	322					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	CACAATAAAGGCTCCCAAAAT	0.507													103	119					1.22879e-52	1.26975e-52	1	1	0	T	78172156	G	T	78172156	3	4	24	1	0	0	0	0	1	0	0	0	7437	1203	42	5	211	5	HTR1B	6	78172156	Missense_Mutation	SNP	G	TCGA-DB-5277-01A-01D-1468-08	34028287	78172156	92942911	15	975											
TPBG	7162	broad.mit.edu	37	chr6	83075656	83075656	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggctcacctgtgcatatccGgaaaaaatgaggaatcgggt	12	8	12	9	3	1	1	1	1	0	0	3	3	2	3	2	4	1	2	2	4	5	1			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr6:83075656G>A	uc003pjn.4	+	2	1914	c.978G>A	c.(976-978)ccG>ccA	p.P326P	TPBG_uc003pjo.3_Silent_p.P326P|TPBG_uc021zcc.1_Silent_p.P326P	NM_006670	NP_006661	Q13641	TPBG_HUMAN	Homo sapiens trophoblast glycoprotein (TPBG), transcript variant 1, mRNA.	326	LRRCT.				cell adhesion	integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		GTGCATATCCGGAAAAAATGA	0.542													47	105					0	0	1	0	0	A	83075656	G	A	83075656	2	1	24	1	0	0	0	0	0	0	0	1	16391	1103	39	2		2	TPBG	6	83075656	Silent	SNP	G	TCGA-DB-5277-01A-01D-1468-08	4903500	83075656	88039411	16	976											
TRPV5	56302	broad.mit.edu	37	chr7	142626123	142626123	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccagctcttacccagggAgtcctgggccctgatgtcag	7	9	11	14	0	2	1	1	1	1	0	4	2	4	2	4	2	2	1	4	2	1	1			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr7:142626123A>G	uc003wby.1	-	4	844	c.580T>C	c.(580-582)Tcc>Ccc	p.S194P	TRPV5_uc003wbz.3_Missense_Mutation_p.S194P	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	194					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TTACCCAGGGAGTCCTGGGCC	0.612													9	42					0	0	1	0	0	G	142626123	A	G	142626123	3	3	24	1	0	0	0	0	1	0	0	0	16596	304	11	4	1653	4	TRPV5	7	142626123	Missense_Mutation	SNP	A	TCGA-DB-5277-01A-01D-1468-08		142626123	16512540	17	977											
CDH17	1015	broad.mit.edu	37	chr8	95142932	95142932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtctggtgacctgctggccGgaaacaacttccttccacac	9	9	9	14	1	1	1	0	1	1	0	3	2	3	2	4	3	3	1	4	3	2	2			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr8:95142932G>A	uc003ygh.2	-	16	2445	c.2320C>T	c.(2320-2322)Cgg>Tgg	p.R774W	CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Missense_Mutation_p.R774W	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	774	Cadherin 7.					integral to membrane	calcium ion binding	p.R774W(2)|p.R774Q(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CCTGCTGGCCGGAAACAACTT	0.448													30	119					0	0	1	0	0	A	95142932	G	A	95142932	3	1	24	1	0	0	0	0	1	0	0	0	3102	1115	39	2	186	2	CDH17	8	95142932	Missense_Mutation	SNP	G	TCGA-DB-5277-01A-01D-1468-08		95142932	51221090	18	978											
RNF139	11236	broad.mit.edu	37	chr8	125498877	125498880	+	Frame_Shift_Del	DEL	TTTA	TTTA	-																															cttggctttgttgcacctgtTttattttttattttggctct																										TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr8:125498877_125498880delTTTA	uc003yrc.3	+	1	1330_1333	c.987_990delTTTA	c.(985-990)gttttafs	p.V329fs		NM_007218	NP_009149	Q8WU17	RN139_HUMAN	Homo sapiens ring finger protein 139 (RNF139), mRNA.	329					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTGCACCTGTTTTATTTTTTATTT	0.412													53	506	---	---	---	---						-	125498880	TTTA	-	125498877	7	5	24	1	0	1	0	1	0	0	0	0	13442	1828	64	0	993	0	RNF139	8	125498877	Frame_Shift_Del	DEL	TTTA	TCGA-DB-5277-01A-01D-1468-08	30355945	125498877	20865145	19	979											
ZNF438	220929	broad.mit.edu	37	chr10	31138346	31138346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaagccttctgtggtggaggGtatcttatcacagtcggcct	8	12	12	9	1	3	0	1	0	2	0	4	1	3	1	2	4	1	1	2	4	3	3			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr10:31138346G>A	uc010qdz.2	-	6	1423	c.988C>T	c.(988-990)Ccc>Tcc	p.P330S	ZNF438_uc001ivn.3_Missense_Mutation_p.P281S|ZNF438_uc010qdy.2_Missense_Mutation_p.P320S|ZNF438_uc001ivo.4_5'UTR|ZNF438_uc009xlg.3_Missense_Mutation_p.P330S|ZNF438_uc001ivp.4_Missense_Mutation_p.P320S|ZNF438_uc010qea.2_Missense_Mutation_p.P330S|ZNF438_uc010qeb.2_Missense_Mutation_p.P330S|ZNF438_uc010qec.1_5'UTR	NM_182755	NP_001137241	Q7Z4V0	ZN438_HUMAN	Homo sapiens zinc finger protein 438 (ZNF438), transcript variant 2, mRNA.	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GTGGTGGAGGGTATCTTATCA	0.463													24	226					0	0	1	0	0	A	31138346	G	A	31138346	3	1	24	1	0	0	0	0	1	0	0	0	17907	1261	44	3	1506	3	ZNF438	10	31138346	Missense_Mutation	SNP	G	TCGA-DB-5277-01A-01D-1468-08		31138346	104396401	20	980											
TRIM68	55128	broad.mit.edu	37	chr11	4626616	4626616	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatctcccagagtccagagAgacagctgtggcagaagctg	11	6	14	10	0	1	4	0	0	1	4	3	6	2	5	2	2	2	3	2	2	1	0			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr11:4626616A>G	uc001lzf.2	-	1	409	c.119T>C	c.(118-120)cTc>cCc	p.L40P	TRIM68_uc010qyj.2_Intron|TRIM68_uc009yek.2_Missense_Mutation_p.L40P	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN	Homo sapiens tripartite motif containing 68 (TRIM68), mRNA.	40					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		GAGTCCAGAGAGACAGCTGTG	0.572													46	21					0	0	1	0	0	G	4626616	A	G	4626616	3	3	24	1	0	0	0	0	1	0	0	0	16538	304	11	4	1362	4	TRIM68	11	4626616	Missense_Mutation	SNP	A	TCGA-DB-5277-01A-01D-1468-08		4626616	130379900	21	981											
MS4A7	58475	broad.mit.edu	37	chr11	60150653	60150653	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accatgggggtttctcacagCtttacaccaaagggcatcac	11	9	9	12	0	2	0	2	0	1	0	3	0	2	0	2	3	2	3	2	3	2	3			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr11:60150653C>T	uc001npe.3	+	1	184	c.39C>T	c.(37-39)agC>agT	p.S13S	MS4A7_uc001npf.3_Silent_p.S13S|MS4A7_uc001npg.3_Silent_p.S13S|MS4A7_uc001nph.3_Silent_p.S13S|MS4A14_uc001npi.3_Intron|MS4A7_uc009ymx.1_Silent_p.S13S	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 7 (MS4A7), transcript variant 3, mRNA.	13						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						TTTCTCACAGCTTTACACCAA	0.463													5	79					0	0	1	0	0	T	60150653	C	T	60150653	2	4	24	1	0	0	0	0	0	0	0	1	9866	796	28	3		3	MS4A7	11	60150653	Silent	SNP	C	TCGA-DB-5277-01A-01D-1468-08	55524037	60150653	74855863	22	982											
NUMA1	4926	broad.mit.edu	37	chr11	71720101	71720101	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagcctgctgtagctcaTggcccagccgttcagcttca	6	9	10	16	1	3	0	3	0	0	0	3	0	3	0	4	1	5	5	4	1	1	3			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr11:71720101T>C	uc001orl.1	-	18	5142	c.4970A>G	c.(4969-4971)cAt>cGt	p.H1657R	NUMA1_uc001orj.2_5'Flank|NUMA1_uc009ysw.1_Missense_Mutation_p.H1206R|NUMA1_uc001ork.1_Missense_Mutation_p.H521R|NUMA1_uc001orm.1_Missense_Mutation_p.H1643R|NUMA1_uc001orn.2_Missense_Mutation_p.H1220R	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	1657					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTGTAGCTCATGGCCCAGCCG	0.592			T	RARA	APL								26	43					0	0	1	0	0	C	71720101	T	C	71720101	3	2	24	1	0	0	0	0	1	0	0	0	10750	1464	51	3	1413	3	NUMA1	11	71720101	Missense_Mutation	SNP	T	TCGA-DB-5277-01A-01D-1468-08	11569448	71720101	63286415	23	983											
RPAP3	79657	broad.mit.edu	37	chr12	48096531	48096531	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttttgtttaatgtctttttcCcagttttctaaatcccgcat	7	21	4	9	1	2	0	0	0	2	0	4	0	4	0	2	0	0	3	2	0	3	9			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr12:48096531C>T	uc001rpr.3	-	1	209	c.93G>A	c.(91-93)tgG>tgA	p.W31*	RPAP3_uc010slk.2_Intron|RPAP3_uc001rps.3_Nonsense_Mutation_p.W31*	NM_024604	NP_001139548	Q9H6T3	RPAP3_HUMAN	Homo sapiens RNA polymerase II associated protein 3 (RPAP3), transcript variant 1, mRNA.	31							binding			endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					TGTCTTTTTCCCAGTTTTCTA	0.323													8	41					0	0	1	0	0	T	48096531	C	T	48096531	4	4	24	1	0	0	0	0	0	1	0	0	13543	624	22	3	1968	3	RPAP3	12	48096531	Nonsense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08		48096531	85755364	24	984											
MBD6	114785	broad.mit.edu	37	chr12	57919602	57919602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccccgcccaccctggtcCtgcctctcagccaccagtgt	4	9	7	21	1	2	0	1	0	2	0	5	0	3	0	8	1	2	0	8	1	0	0			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr12:57919602C>T	uc001soj.1	+	5	1075	c.851C>T	c.(850-852)cCt>cTt	p.P284L	MBD6_uc001sok.1_Missense_Mutation_p.P151L|MBD6_uc001sol.1_5'Flank	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	284	Pro-rich.					chromosome|nucleus	DNA binding|chromatin binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CACCCTGGTCCTGCCTCTCAG	0.672													7	22					0	0	1	0	0	T	57919602	C	T	57919602	3	4	24	1	0	0	0	0	1	0	0	0	9348	681	24	3	865	3	MBD6	12	57919602	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	9823071	57919602	75932293	25	985											
SRGAP1	57522	broad.mit.edu	37	chr12	64437269	64437269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ataagctaaaatcaattaagGcacggaacgaatatctccta	18	9	6	8	2	2	0	1	0	1	0	3	2	2	1	1	2	2	2	1	2	9	5			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr12:64437269G>A	uc010ssp.1	+	5	771	c.715G>A	c.(715-717)Gca>Aca	p.A239T	SRGAP1_uc001srt.3_Missense_Mutation_p.A239T|SRGAP1_uc001srv.2_Missense_Mutation_p.A199T	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	239					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ATCAATTAAGGCACGGAACGA	0.348													42	9					0	0	1	0	0	A	64437269	G	A	64437269	3	1	24	1	0	0	0	0	1	0	0	0	15144	1203	42	3	737	3	SRGAP1	12	64437269	Missense_Mutation	SNP	G	TCGA-DB-5277-01A-01D-1468-08	6517667	64437269	69414626	26	986											
NAP1L1	4673	broad.mit.edu	37	chr12	76453623	76453623	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccattcacattcttcttcCgtaggttcataaattgcatt	9	18	4	10	1	4	0	2	0	2	0	6	0	6	0	2	1	1	3	2	1	3	10			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr12:76453623C>T	uc001sxw.2	-	5	796	c.384G>A	c.(382-384)acG>acA	p.T128T	NAP1L1_uc001sxz.2_Intron|NAP1L1_uc010stz.1_5'UTR|NAP1L1_uc001sxx.2_Silent_p.T128T|NAP1L1_uc010sty.1_Silent_p.T86T|NAP1L1_uc010sua.1_Silent_p.T128T|NAP1L1_uc001syb.3_Silent_p.T128T	NM_139207	NP_631946	P55209	NP1L1_HUMAN	Homo sapiens nucleosome assembly protein 1-like 1 (NAP1L1), transcript variant 1, mRNA.	128					DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding	p.T128M(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				ATTCTTCTTCCGTAGGTTCAT	0.308													41	19					0	0	1	0	0	T	76453623	C	T	76453623	2	4	24	1	0	0	0	0	0	0	0	1	10156	639	23	2		2	NAP1L1	12	76453623	Silent	SNP	C	TCGA-DB-5277-01A-01D-1468-08	12016354	76453623	57398272	27	987											
TTLL5	23093	broad.mit.edu	37	chr14	76241856	76241856	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcgtttcctcaagcgagcAtcaaataacctccagcattc	11	11	6	13	2	2	0	2	0	0	0	6	1	4	0	3	0	4	4	3	0	3	4			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr14:76241856A>G	uc010ask.2	+	22	2483	c.2208A>G	c.(2206-2208)gcA>gcG	p.A736A	TTLL5_uc001xrx.3_Silent_p.A722A|TTLL5_uc001xrz.3_Silent_p.A297A|TTLL5_uc001xry.1_Non-coding_Transcript	NM_015072	NP_055887	Q6EMB2	TTLL5_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA.	722					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TCAAGCGAGCATCAAATAACC	0.463													130	175					0	0	1	0	0	G	76241856	A	G	76241856	2	3	24	1	0	0	0	0	0	0	0	1	16727	204	8	3		3	TTLL5	14	76241856	Silent	SNP	A	TCGA-DB-5277-01A-01D-1468-08		76241856	31107684	28	988											
ELL3	80237	broad.mit.edu	37	chr15	44068328	44068328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagaggcaggaccaacCagggcctgggagtctcagat	12	4	16	9	0	1	3	1	0	1	3	2	6	1	5	3	5	1	1	3	5	2	0			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr15:44068328C>T	uc001zsw.1	-	2	593	c.190G>A	c.(190-192)Ggt>Agt	p.G64S	ELL3_uc001zsv.1_Missense_Mutation_p.G18S|ELL3_uc001zsx.1_5'UTR|SERF2_uc001zsy.3_5'Flank|SERF2_uc001zsz.4_5'Flank	NM_025165	NP_079441	Q9HB65	ELL3_HUMAN	Homo sapiens elongation factor RNA polymerase II-like 3 (ELL3), mRNA.	64					positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		CAGGACCAACCAGGGCCTGGG	0.632													31	42					0	0	1	0	0	T	44068328	C	T	44068328	3	4	24	1	0	0	0	0	1	0	0	0	5064	594	21	3	1039	3	ELL3	15	44068328	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08		44068328	58463064	29	989											
FBN1	2200	broad.mit.edu	37	chr15	48729544	48729544	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaatcatcaggtcccacGatgatcccacttccataagg	11	9	8	13	1	2	2	2	2	0	0	5	3	5	2	3	2	0	1	3	2	2	2	rs112989722		TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr15:48729544G>T	uc001zwx.2	-	51	6749	c.6354C>A	c.(6352-6354)atC>atA	p.I2118I	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	2118					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CAGGTCCCACGATGATCCCAC	0.423													32	9					4.3181e-19	4.38889e-19	1	1	0	T	48729544	G	T	48729544	2	4	24	1	0	0	0	0	0	0	0	1	5702	1048	37	5		5	FBN1	15	48729544	Silent	SNP	G	TCGA-DB-5277-01A-01D-1468-08	4661216	48729544	53801848	30	990											
PELP1	27043	broad.mit.edu	37	chr17	4578457	4578457	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggggaagcaggcggccgatCaggatcccaaagcgcaagag	12	3	16	10	3	1	1	1	0	0	1	2	4	2	3	2	5	2	2	2	5	3	0			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:4578457C>G	uc002fyi.4	-	10	1417	c.1191G>C	c.(1189-1191)ctG>ctC	p.L397L	PELP1_uc010vsf.2_Silent_p.L250L	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	Homo sapiens proline, glutamate and leucine rich protein 1 (PELP1), mRNA.	397					transcription, DNA-dependent	MLL1 complex|cytoplasm	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GGCGGCCGATCAGGATCCCAA	0.607													7	22					0	0	1	0	0	G	4578457	C	G	4578457	2	3	24	1	0	0	0	0	0	0	0	1	11725	813	29	5		5	PELP1	17	4578457	Silent	SNP	C	TCGA-DB-5277-01A-01D-1468-08		4578457	76616753	31	991											
TP53	7157	broad.mit.edu	37	chr17	7577574	7577574	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcaggaactgttacacatgTagttgtagtggatggtggta	10	13	14	4	0	0	0	0	0	0	0	0	2	0	2	0	4	3	6	0	4	5	5			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:7577574T>C	uc002gim.2	-	6	901	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	TP53_uc002gig.1_Missense_Mutation_p.Y236C|TP53_uc002gih.3_Missense_Mutation_p.Y236C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y104C|TP53_uc010cnf.1_Missense_Mutation_p.Y104C|TP53_uc002gii.1_Missense_Mutation_p.Y104C|TP53_uc010cni.1_Missense_Mutation_p.Y236C|TP53_uc010cnh.1_Missense_Mutation_p.Y236C|TP53_uc002gij.2_Missense_Mutation_p.Y236C|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.Y143C|TP53_uc002gio.2_Missense_Mutation_p.Y104C|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	236	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y236C(113)|p.N235S(14)|p.Y236N(12)|p.Y236*(10)|p.Y236H(9)|p.Y236del(8)|p.0?(8)|p.Y236D(7)|p.N235D(7)|p.Y236S(6)|p.?(5)|p.Y143C(5)|p.N235I(4)|p.Y236fs*4(3)|p.N235T(3)|p.N235fs*5(2)|p.Y236_M243delYMCNSSCM(2)|p.N235Y(2)|p.N235fs*12(2)|p.Y236Y(2)|p.Y236_M237delYM(2)|p.I232_Y236delIHYNY(2)|p.H233_C242del10(2)|p.N235_Y236delNY(2)|p.N235del(2)|p.N235fs*6(1)|p.V225fs*23(1)|p.Y236_M237>*L(1)|p.Y236_M237insXX(1)|p.N235>XX(1)|p.N235M(1)|p.H233fs*6(1)|p.N235H(1)|p.Y234_N235insX(1)|p.Y236fs*5(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)		GTTACACATGTAGTTGTAGTG	0.572		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)			86	10					0	0	1	0	0	C	7577574	T	C	7577574	3	2	24	1	0	0	0	0	1	0	0	0	16378	1638	57	3	583	3	TP53	17	7577574	Missense_Mutation	SNP	T	TCGA-DB-5277-01A-01D-1468-08	2999117	7577574	73617636	32	992											
MYH13	8735	broad.mit.edu	37	chr17	10213033	10213033	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcccgctggctgtttctttTtagctgctcgatttcttcat	3	19	8	11	2	3	0	1	0	2	0	4	1	3	0	1	1	3	5	1	1	1	6			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:10213033T>C	uc002gmk.1	-	33	4861	c.4771A>G	c.(4771-4773)Aaa>Gaa	p.K1591E		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1591					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTGTTTCTTTTTAGCTGCTCG	0.562													3	16					0	0	1	0	0	C	10213033	T	C	10213033	3	2	24	1	0	0	0	0	1	0	0	0	10032	1850	64	3	1077	3	MYH13	17	10213033	Missense_Mutation	SNP	T	TCGA-DB-5277-01A-01D-1468-08	2635459	10213033	70982177	33	993											
NCOR1	9611	broad.mit.edu	37	chr17	15974805	15974805	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgagttaaaatatctTgccttggaatctcatgaatg	11	16	7	7	0	2	2	1	2	2	0	4	3	3	3	2	1	1	1	2	1	5	5			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:15974805T>C	uc002gpo.3	-	29	4339	c.4070A>G	c.(4069-4071)cAa>cGa	p.Q1357R	NCOR1_uc002gpn.3_Missense_Mutation_p.Q1373R|NCOR1_uc002gpp.1_Missense_Mutation_p.Q1264R|NCOR1_uc010vwb.2_Intron|NCOR1_uc010coy.3_Missense_Mutation_p.Q265R|NCOR1_uc010vwc.2_Missense_Mutation_p.Q168R	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	1357	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TAAAATATCTTGCCTTGGAAT	0.453													253	49					0	0	1	0	0	C	15974805	T	C	15974805	3	2	24	1	0	0	0	0	1	0	0	0	10235	1812	63	3	3320	3	NCOR1	17	15974805	Missense_Mutation	SNP	T	TCGA-DB-5277-01A-01D-1468-08	5761772	15974805	65220405	34	994											
ACLY	47	broad.mit.edu	37	chr17	40030158	40030158	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgcgtagatgagctcctGtcctcgctcatcgcagatgc	6	9	11	15	4	1	3	1	1	0	2	5	3	3	3	3	0	2	4	3	0	1	1			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:40030158G>A	uc002hyg.3	-	22	2711	c.2548C>T	c.(2548-2550)Cag>Tag	p.Q850*	ACLY_uc002hyh.3_Nonsense_Mutation_p.Q840*|ACLY_uc002hyi.3_Nonsense_Mutation_p.Q904*|ACLY_uc010wfx.2_Nonsense_Mutation_p.Q894*|ACLY_uc010wfy.2_Nonsense_Mutation_p.Q579*	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	850					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				ATGAGCTCCTGTCCTCGCTCA	0.592													22	89					0	0	1	0	0	A	40030158	G	A	40030158	4	1	24	1	0	0	0	0	0	1	0	0	143	1386	48	3	785	3	ACLY	17	40030158	Nonsense_Mutation	SNP	G	TCGA-DB-5277-01A-01D-1468-08	24055353	40030158	41165052	35	995											
LPO	4025	broad.mit.edu	37	chr17	56344812	56344812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctggccaagaagttactggGtctctacgggacccctgaca	9	8	12	12	1	1	2	0	1	1	1	2	3	1	3	3	3	2	2	3	3	4	2			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:56344812G>A	uc002ivt.3	+	11	2112	c.1796G>A	c.(1795-1797)gGt>gAt	p.G599D	LPO_uc010wns.2_Missense_Mutation_p.G540D|LPO_uc010dcp.3_Missense_Mutation_p.G516D|LPO_uc010dcq.3_Missense_Mutation_p.G270D|LPO_uc010dcr.3_Missense_Mutation_p.G162D	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	599					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						AAGTTACTGGGTCTCTACGGG	0.572													65	65					0	0	1	0	0	A	56344812	G	A	56344812	3	1	24	1	0	0	0	0	1	0	0	0	8922	1261	44	3	1838	3	LPO	17	56344812	Missense_Mutation	SNP	G	TCGA-DB-5277-01A-01D-1468-08	16314654	56344812	24850398	36	996											
MPO	4353	broad.mit.edu	37	chr17	56355208	56355208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgccaggaagcaggggatgCgcgctgagcggttggtgagg	7	6	20	8	3	0	2	0	2	0	0	0	4	0	4	1	6	4	3	1	6	1	1			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:56355208C>T	uc002ivu.1	-	6	1361	c.1184G>A	c.(1183-1185)cGc>cAc	p.R395H		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	395					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)	GCAGGGGATGCGCGCTGAGCG	0.617													5	90					0	0	1	0	0	T	56355208	C	T	56355208	3	4	24	1	0	0	0	0	1	0	0	0	9732	768	27	1	1077	1	MPO	17	56355208	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	10396	56355208	24840002	37	997											
ZNF750	79755	broad.mit.edu	37	chr17	80789719	80789719	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccggctttccaggggtaGccaggagtgtggaaggccga	8	6	18	9	2	0	0	0	0	0	0	1	4	1	2	4	6	2	2	4	6	2	2			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:80789719G>C	uc002kga.3	-	1	923	c.612C>G	c.(610-612)ggC>ggG	p.G204G	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.3_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	Homo sapiens zinc finger protein 750 (ZNF750), mRNA.	204						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TCCAGGGGTAGCCAGGAGTGT	0.577													11	99					0	0	1	0	0	C	80789719	G	C	80789719	2	2	24	1	0	0	0	0	0	0	0	1	18129	958	34	5		5	ZNF750	17	80789719	Silent	SNP	G	TCGA-DB-5277-01A-01D-1468-08	24434511	80789719	405491	38	998											
MATK	4145	broad.mit.edu	37	chr19	3784173	3784173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcctcccgctcccgcagcGccccagctgccagcagcccc	4	3	11	23	3	0	0	0	0	0	0	2	0	2	0	8	1	5	4	8	1	0	0			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr19:3784173G>A	uc002lyt.3	-	4	711	c.311C>T	c.(310-312)gCg>gTg	p.A104V	MATK_uc002lyv.3_Missense_Mutation_p.A105V|MATK_uc002lyu.3_Missense_Mutation_p.A63V|MATK_uc010dtq.3_Missense_Mutation_p.A104V	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	104	SH3.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCGCAGCGCCCCAGCTGC	0.682													21	21					0	0	1	0	0	A	3784173	G	A	3784173	3	1	24	1	0	0	0	0	1	0	0	0	9332	1087	38	1	1252	1	MATK	19	3784173	Missense_Mutation	SNP	G	TCGA-DB-5277-01A-01D-1468-08		3784173	55344810	39	999											
CIB3	117286	broad.mit.edu	37	chr19	16280488	16280488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcgtagggcaccttcacatCggggcaggtggtatagtcga	8	9	14	10	3	1	0	1	0	0	0	4	1	1	0	1	5	0	4	1	5	3	4			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr19:16280488C>T	uc002nds.3	-	2	151	c.151G>A	c.(151-153)Gat>Aat	p.D51N	CIB3_uc010eae.3_5'UTR|CIB3_uc010eaf.3_Intron|CIB3_uc010eag.3_Intron	NM_054113	NP_473454	Q96Q77	CIB3_HUMAN	Homo sapiens calcium and integrin binding family member 3 (CIB3), mRNA.	51							calcium ion binding	p.D51N(2)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						ACCTTCACATCGGGGCAGGTG	0.562													5	83					0	0	1	0	0	T	16280488	C	T	16280488	3	4	24	1	0	0	0	0	1	0	0	0	3422	884	31	2	428	2	CIB3	19	16280488	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	12496315	16280488	42848495	40	1000											
SBSN	374897	broad.mit.edu	37	chr19	36015811	36015811	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgatggctggaagatcCgctttgatggttgccctgtg	5	14	13	9	1	0	3	0	2	0	1	2	4	2	4	3	3	1	3	3	3	1	3			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr19:36015811C>T	uc002oad.2	-	1	1724	c.1654G>A	c.(1654-1656)Gga>Aga	p.G552R	SBSN_uc002oae.2_Missense_Mutation_p.G209R|SBSN_uc021usp.1_Missense_Mutation_p.G131R	NM_001166034	NP_001159506	Q6UWP8	SBSN_HUMAN	Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA.	209						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CTGGAAGATCCGCTTTGATGG	0.612													8	24					0	0	1	0	0	T	36015811	C	T	36015811	3	4	24	1	0	0	0	0	1	0	0	0	13864	661	23	2	130	2	SBSN	19	36015811	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	19735323	36015811	23113172	41	1001											
ZNF343	79175	broad.mit.edu	37	chr20	2464637	2464637	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acactccctgcacaaataagGcttctcttctgaatgtgttc	10	13	6	12	0	2	1	0	1	2	0	5	1	3	1	1	1	1	3	1	1	3	4			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr20:2464637G>C	uc002wge.1	-	5	1458	c.970C>G	c.(970-972)Cct>Gct	p.P324A	ZNF343_uc010gao.1_Missense_Mutation_p.P324A|ZNF343_uc002wgd.1_Missense_Mutation_p.P234A	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	Homo sapiens zinc finger protein 343 (ZNF343), mRNA.	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CACAAATAAGGCTTCTCTTCT	0.493													16	51					0	0	1	0	0	C	2464637	G	C	2464637	3	2	24	1	0	0	0	0	1	0	0	0	17855	1203	42	5	833	5	ZNF343	20	2464637	Missense_Mutation	SNP	G	TCGA-DB-5277-01A-01D-1468-08		2464637	60560883	42	1002											
SNRPB2	6629	broad.mit.edu	37	chr20	16712312	16712312	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actccttcctttttataacaGattttttactgtctcctgaa	9	19	3	10	0	1	2	0	1	1	1	4	2	3	2	3	0	2	0	3	0	4	8			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr20:16712312G>C	uc002wph.2	+	2	202	c.-34_splice	c.e2-1		SNRPB2_uc002wpi.2_Splice_Site	NM_003092	NP_937863	P08579	RU2B_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide B (SNRPB2), transcript variant 1, mRNA.							U2 snRNP|catalytic step 2 spliceosome|nucleoplasm	RNA binding|nucleotide binding|protein binding			large_intestine(2)|lung(2)|urinary_tract(1)	5						TTTTATAACAGATTTTTTACT	0.303													19	104					0	0	1	0	0	C	16712312	G	C	16712312	5	2	24	1	0	0	0	0	0	0	1	0	14862	956	33	5		5	SNRPB2	20	16712312	Splice_Site	SNP	G	TCGA-DB-5277-01A-01D-1468-08	14247675	16712312	46313208	43	1003											
LIPI	149998	broad.mit.edu	37	chr21	15561431	15561431	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctctattataaataaaaGttgtagcaccccggctccag	12	11	7	11	1	1	0	0	0	1	0	2	0	2	0	3	1	2	5	3	1	7	6			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr21:15561431G>C	uc002yjm.3	-	1	429	c.419C>G	c.(418-420)aCt>aGt	p.T140S	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Missense_Mutation_p.T119S|LIPI_uc021whh.1_Missense_Mutation_p.T119S|LIPI_uc021whi.1_Intron|LIPI_uc021whj.1_Missense_Mutation_p.T119S|LIPI_uc021whe.1_Missense_Mutation_p.T119S|LIPI_uc021whf.1_Missense_Mutation_p.T119S	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	119					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		ATAAATAAAAGTTGTAGCACC	0.363													52	66					0	0	1	0	0	C	15561431	G	C	15561431	3	2	24	1	0	0	0	0	1	0	0	0	8825	1029	36	5	1062	5	LIPI	21	15561431	Missense_Mutation	SNP	G	TCGA-DB-5277-01A-01D-1468-08		15561431	32568464	44	1004											
DIP2A	23181	broad.mit.edu	37	chr21	47978201	47978201	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgaggagcggcccaggatTgcgctgacccagtccttctc	6	7	13	15	3	1	1	0	1	1	0	3	4	2	3	4	3	2	1	4	3	0	2			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr21:47978201T>C	uc002zjo.2	+	31	4047	c.3864T>C	c.(3862-3864)atT>atC	p.I1288I	DIP2A_uc011afz.1_Silent_p.I1284I|DIP2A_uc002zjr.3_Silent_p.I255I|DIP2A_uc002zjs.2_5'Flank	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	1288					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGCCCAGGATTGCGCTGACCC	0.667													6	22					0	0	1	0	0	C	47978201	T	C	47978201	2	2	24	1	0	0	0	0	0	0	0	1	4527	1800	63	3		3	DIP2A	21	47978201	Silent	SNP	T	TCGA-DB-5277-01A-01D-1468-08	32416770	47978201	151694	45	1005											
COL4A6	1288	broad.mit.edu	37	chrX	107454952	107454952	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagggtcaccttttgatcCtttctgaccaggaagcccct	8	11	9	13	0	2	2	1	2	1	0	3	4	3	3	5	2	1	0	5	2	1	3			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chrX:107454952C>T	uc004enw.4	-	6	566	c.463G>A	c.(463-465)Gga>Aga	p.G155R	COL4A6_uc004env.4_Missense_Mutation_p.G154R|COL4A6_uc011msn.2_Missense_Mutation_p.G154R|COL4A6_uc010npk.3_Missense_Mutation_p.G154R	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	155	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCTTTTGATCCTTTCTGACCA	0.403									Alport syndrome with Diffuse Leiomyomatosis				4	97					0	0	1	0	0	T	107454952	C	T	107454952	3	4	24	1	0	0	0	0	1	0	0	0	3695	690	24	3	4768	3	COL4A6	23	107454952	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08		107454952	47815608	46	1006											
VANGL2	57216	broad.mit.edu	37	chr1	160389291	160389291	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgcccttcttttcgtgcactAcctggccgtggtcctgctgg	2	13	11	15	3	1	0	0	0	1	0	3	0	2	0	4	3	3	2	4	3	1	4			TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr1:160389291A>G	uc001fwb.2	+	4	991	c.692A>G	c.(691-693)tAc>tGc	p.Y231C	VANGL2_uc001fwc.2_Missense_Mutation_p.Y231C	NM_020335	NP_065068	Q9ULK5	VANG2_HUMAN	Homo sapiens vang-like 2 (van gogh, Drosophila) (VANGL2), mRNA.	231					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTCGTGCACTACCTGGCCGTG	0.647													3	77					0	0	0.115264	0	0	G	160389291	A	G	160389291	3	3	25	1	0	0	0	0	1	0	0	0	17117	391	14	3	702	3	VANGL2	1	160389291	Missense_Mutation	SNP	A	TCGA-DB-5278-01A-01D-1468-08		160389291	88861330	1	1007											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220387224	220387224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaatacagctttttgctctCgagctatcaccataagatca	13	12	6	10	1	3	1	2	0	1	1	4	3	3	1	1	0	4	3	1	0	4	5			TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr1:220387224C>T	uc010puk.1	-	2	442	c.278G>A	c.(277-279)cGa>cAa	p.R93Q	RAB3GAP2_uc021pjf.1_Missense_Mutation_p.R93Q|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_5'UTR|RAB3GAP2_uc010pum.1_Missense_Mutation_p.R93Q	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	93					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TTTTTGCTCTCGAGCTATCAC	0.363													23	58					0	0	0.667858	0	0	T	220387224	C	T	220387224	3	4	25	1	0	0	0	0	1	0	0	0	12936	884	31	2	4035	2	RAB3GAP2	1	220387224	Missense_Mutation	SNP	C	TCGA-DB-5278-01A-01D-1468-08	59997933	220387224	28863397	2	1008											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								46	72					0	0	0.870114	0	0	T	209113112	C	T	209113112	3	4	25	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-5278-01A-01D-1468-08		209113112	34086261	3	1009											
ARPC1B	10095	broad.mit.edu	37	chr7	98987611	98987611	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caacaatgtgctgctggctgCcggctcctgtgacttcaagt	7	11	11	12	1	1	1	1	1	0	0	2	1	2	1	2	2	4	4	2	2	3	1			TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr7:98987611C>T	uc003upz.3	+	4	596	c.476C>T	c.(475-477)gCc>gTc	p.A159V		NM_005720	NP_005711	O15143	ARC1B_HUMAN	Homo sapiens actin related protein 2/3 complex, subunit 1B, 41kDa (ARPC1B), mRNA.	159					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CTGCTGGCTGCCGGCTCCTGT	0.632													4	168					0	0	0.184627	0	0	T	98987611	C	T	98987611	3	4	25	1	0	0	0	0	1	0	0	0	970	739	26	3	490	3	ARPC1B	7	98987611	Missense_Mutation	SNP	C	TCGA-DB-5278-01A-01D-1468-08		98987611	60151052	4	1010											
GIMAP6	474344	broad.mit.edu	37	chr7	150325310	150325310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttgtgtcaccaggagcaCggcgtggggccctggggcgg	5	6	19	11	3	1	0	1	0	0	0	1	1	1	1	2	7	1	2	2	7	0	1	rs138521615	byFrequency	TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr7:150325310C>T	uc022apv.1	-	2	1066	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	GIMAP6_uc003whn.3_Missense_Mutation_p.V126M|GIMAP6_uc003whm.3_Missense_Mutation_p.R51H	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	126							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCAGGAGCACGGCGTGGGGC	0.622													40	81					0	0	0.847076	0	0	T	150325310	C	T	150325310	3	4	25	1	0	0	0	0	1	0	0	0	6383	536	19	1	506	1	GIMAP6	7	150325310	Missense_Mutation	SNP	C	TCGA-DB-5278-01A-01D-1468-08	51337699	150325310	8813353	5	1011											
SVIL	6840	broad.mit.edu	37	chr10	29770516	29770516	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggtcgccggaataccttGtgctgggcaagttccccggg	5	10	14	12	3	0	0	0	0	0	0	2	1	1	1	4	4	2	3	4	4	3	4			TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr10:29770516G>T	uc001iut.1	-	27	5850	c.5097C>A	c.(5095-5097)caC>caA	p.H1699Q	LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Missense_Mutation_p.H613Q|SVIL_uc001iuu.1_Missense_Mutation_p.H1273Q|SVIL_uc009xlc.2_Missense_Mutation_p.H491Q	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1699					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	p.Q1698K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGAATACCTTGTGCTGGGCAA	0.463													189	365					1.35662e-99	1.92782e-99	0.870114	1	0	T	29770516	G	T	29770516	3	4	25	1	0	0	0	0	1	0	0	0	15418	1368	48	5	1591	5	SVIL	10	29770516	Missense_Mutation	SNP	G	TCGA-DB-5278-01A-01D-1468-08		29770516	105764231	6	1012											
GTSF1	121355	broad.mit.edu	37	chr12	54857017	54857017	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgatgactaatttcagctCgaggaacctggtggcgagca	11	10	12	8	2	1	2	1	2	0	0	2	5	1	3	1	3	3	2	1	3	3	3			TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr12:54857017C>A	uc001sgb.3	-	3	268	c.182G>T	c.(181-183)cGa>cTa	p.R61L		NM_144594	NP_653195	Q8WW33	GTSF1_HUMAN	Homo sapiens gametocyte specific factor 1 (GTSF1), mRNA.	61							metal ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				AATTTCAGCTCGAGGAACCTG	0.413													4	98					0.184627	0.237378	0.184627	1	0	A	54857017	C	A	54857017	3	1	25	1	0	0	0	0	1	0	0	0	6886	884	31	5	341	5	GTSF1	12	54857017	Missense_Mutation	SNP	C	TCGA-DB-5278-01A-01D-1468-08		54857017	78994878	7	1013											
KIAA0317	9870	broad.mit.edu	37	chr14	75139816	75139816	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagcggataaaagtggctgCtagaatgttcctctccttac	10	11	11	9	1	1	1	0	0	1	1	3	3	2	3	2	3	3	3	2	3	5	4			TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr14:75139816C>G	uc001xqb.3	-	9	1769	c.1264G>C	c.(1264-1266)Gca>Cca	p.A422P	KIAA0317_uc010tut.1_Missense_Mutation_p.A261P	NM_001039479	NP_001034568	O15033	K0317_HUMAN	Homo sapiens KIAA0317 (KIAA0317), mRNA.	422					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.00404)		AAAGTGGCTGCTAGAATGTTC	0.512													6	72					0	0	0.681144	0	0	G	75139816	C	G	75139816	3	3	25	1	0	0	0	0	1	0	0	0	8167	797	28	5	1251	5	KIAA0317	14	75139816	Missense_Mutation	SNP	C	TCGA-DB-5278-01A-01D-1468-08		75139816	32209724	8	1014											
PARN	5073	broad.mit.edu	37	chr16	14680201	14680201	+	Frame_Shift_Del	DEL	T	T	-																															aaaacacatgttgtcatctcTttaaactcacttaagtccta																										TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr16:14680201delT	uc010uzd.2	-	13	1082	c.936delA	c.(934-936)aaafs	p.K312fs	PARN_uc010uzc.2_Frame_Shift_Del_p.K251fs|PARN_uc010uze.2_Frame_Shift_Del_p.K266fs|PARN_uc010uzf.2_Frame_Shift_Del_p.K137fs	NM_002582	NP_001127949	O95453	PARN_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN), transcript variant 1, mRNA.	312					RNA modification|female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleolus	mRNA 3'-UTR binding|metal ion binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						TTGTCATCTCTTTAAACTCAC	0.373													2	4	---	---	---	---						-	14680201	T	-	14680201	7	5	25	1	0	1	0	1	0	0	0	0	11453	1606	56	0	1027	0	PARN	16	14680201	Frame_Shift_Del	DEL	T	TCGA-DB-5278-01A-01D-1468-08		14680201	75674552	9	1015											
SLC7A9	11136	broad.mit.edu	37	chr19	33355655	33355655	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaatgatggtgcccacgaTgatggagatgccactgatga	11	8	13	9	1	0	5	0	4	0	1	0	7	0	5	3	2	2	0	3	2	1	0			TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr19:33355655T>G	uc002ntv.4	-	2	232	c.115A>C	c.(115-117)Atc>Ctc	p.I39L	SLC7A9_uc002ntt.4_Intron|SLC7A9_uc002ntu.4_Missense_Mutation_p.I39L|SLC7A9_uc021usa.1_Missense_Mutation_p.I39L|SLC7A9_uc002ntw.4_Intron	NM_001126335	NP_055085	P82251	BAT1_HUMAN	Homo sapiens solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 (SLC7A9), transcript variant 2, mRNA.	39					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GTGCCCACGATGATGGAGATG	0.622													75	60					0	0	0.870114	0	0	G	33355655	T	G	33355655	3	3	25	1	0	0	0	0	1	0	0	0	14705	1464	51	5	1392	5	SLC7A9	19	33355655	Missense_Mutation	SNP	T	TCGA-DB-5278-01A-01D-1468-08		33355655	25773328	10	1016											
CIC	23152	broad.mit.edu	37	chr19	42791743	42791743	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaatgccttcatgatctTcagcaagcggcaccgggccc	9	8	10	14	2	3	2	2	2	1	0	3	2	3	2	3	2	3	2	3	2	2	2			TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr19:42791743T>G	uc002otf.1	+	4	669	c.629T>G	c.(628-630)tTc>tGc	p.F210C		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.I209S(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TTCATGATCTTCAGCAAGCGG	0.627			"Mis, F, S"		oligodendroglioma								39	38					0	0	0.859065	0	0	G	42791743	T	G	42791743	3	3	25	1	0	0	0	0	1	0	0	0	3424	1783	62	5	647	5	CIC	19	42791743	Missense_Mutation	SNP	T	TCGA-DB-5278-01A-01D-1468-08	9436088	42791743	16337240	11	1017											
CIC	23152	broad.mit.edu	37	chr19	42799060	42799060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaagatccgtgaggtgcGccagaagatcatgcaggctg	10	8	15	8	2	1	5	1	2	0	3	2	5	2	5	2	2	2	3	2	2	2	1			TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr19:42799060G>A	uc002otf.1	+	19	4584	c.4544G>A	c.(4543-4545)cGc>cAc	p.R1515H		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R1515L(2)|p.R1515H(2)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CGTGAGGTGCGCCAGAAGATC	0.632			"Mis, F, S"		oligodendroglioma								4	46					0	0	0.150653	0	0	A	42799060	G	A	42799060	3	1	25	1	0	0	0	0	1	0	0	0	3424	1087	38	1	4622	1	CIC	19	42799060	Missense_Mutation	SNP	G	TCGA-DB-5278-01A-01D-1468-08	7317	42799060	16329923	12	1018											
LRRC7	57554	broad.mit.edu	37	chr1	70504174	70504174	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaccagaacccctagtccGtttgaagacaggaccgcttt	10	9	10	12	2	0	3	0	1	0	2	1	5	1	5	5	2	1	2	5	2	3	3			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr1:70504174G>A	uc001dep.3	+	18	2583	c.2553G>A	c.(2551-2553)ccG>ccA	p.P851P	LRRC7_uc009wbg.3_Silent_p.P135P|LRRC7_uc001deq.3_Silent_p.P92P	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	851						centrosome|focal adhesion|nucleolus	protein binding	p.S850C(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCCCTAGTCCGTTTGAAGACA	0.478													75	11					0	0	1	0	0	A	70504174	G	A	70504174	2	1	26	1	0	0	0	0	0	0	0	1	9020	1132	40	1		1	LRRC7	1	70504174	Silent	SNP	G	TCGA-DB-5279-01A-01D-1468-08		70504174	178746447	1	1019											
NEGR1	257194	broad.mit.edu	37	chr1	72748110	72748110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtagcaggcagcacaggCtgaggagcaccgccgccagc	10	2	16	13	2	0	1	0	1	0	0	0	2	0	2	3	4	4	6	3	4	1	1			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr1:72748110C>T	uc001dfw.3	-	0	296	c.68G>A	c.(67-69)aGc>aAc	p.S23N	NEGR1_uc010oqs.2_Missense_Mutation_p.S23N	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	Homo sapiens neuronal growth regulator 1 (NEGR1), mRNA.	23					cell adhesion	anchored to membrane|plasma membrane		p.S23N(2)		endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GCAGCACAGGCTGAGGAGCAC	0.627													6	14					0	0	1	0	0	T	72748110	C	T	72748110	3	4	26	1	0	0	0	0	1	0	0	0	10317	797	28	3	1024	3	NEGR1	1	72748110	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	2243936	72748110	176502511	2	1020											
ENSA	2029	broad.mit.edu	37	chr1	150599964	150599964	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctttctggagtctcttcatGaggaagtcggagcctccagg	7	11	12	11	1	3	1	1	1	2	0	6	4	4	4	3	4	1	0	3	4	1	2			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr1:150599964G>A	uc009wly.3	-	1	314	c.162C>T	c.(160-162)ctC>ctT	p.L54L	ENSA_uc001evd.3_Silent_p.L54L|ENSA_uc001eve.3_Silent_p.L54L|ENSA_uc001evg.3_Silent_p.L54L|ENSA_uc001evh.3_Silent_p.L54L|ENSA_uc009wlz.1_Silent_p.L54L|ENSA_uc001evi.3_Silent_p.L54L|ENSA_uc001evb.3_Silent_p.L50L|ENSA_uc001evc.3_Silent_p.L50L|ENSA_uc001evf.3_Silent_p.L50L	NM_207043	NP_997051	O43768	ENSA_HUMAN	Homo sapiens endosulfine alpha (ENSA), transcript variant 2, mRNA.	54					G2/M transition of mitotic cell cycle|cell division|mitosis|response to nutrient|transport	cytoplasm	ion channel inhibitor activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)	4	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171)			GTCTCTTCATGAGGAAGTCGG	0.493													89	81					0	0	1	0	0	A	150599964	G	A	150599964	2	1	26	1	0	0	0	0	0	0	0	1	5136	1277	45	3		3	ENSA	1	150599964	Silent	SNP	G	TCGA-DB-5279-01A-01D-1468-08	77851854	150599964	98650657	3	1021											
FCRL5	83416	broad.mit.edu	37	chr1	157491079	157491079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaggaccgggcgagacaccGgaactgaaagagaacaaaaa	18	2	13	8	3	0	4	0	2	0	2	0	8	0	6	2	3	2	0	2	3	5	0	rs142943534		TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr1:157491079G>A	uc009wsm.3	-	10	2401	c.2243C>T	c.(2242-2244)cCg>cTg	p.P748L	FCRL5_uc001fqu.3_Missense_Mutation_p.P748L	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	748						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GCGAGACACCGGAACTGAAAG	0.498													12	53					0	0	1	0	0	A	157491079	G	A	157491079	3	1	26	1	0	0	0	0	1	0	0	0	5798	1116	39	2	718	2	FCRL5	1	157491079	Missense_Mutation	SNP	G	TCGA-DB-5279-01A-01D-1468-08	6891115	157491079	91759542	4	1022											
ATP1A2	477	broad.mit.edu	37	chr1	160093040	160093040	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcaggacgttctggctcGagatgggcccaacgccctca	7	7	13	14	3	3	1	2	0	1	1	4	3	3	2	2	4	1	3	2	4	1	1			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr1:160093040G>T	uc001fvc.3	+	3	347	c.215G>T	c.(214-216)cGa>cTa	p.R72L	ATP1A2_uc001fvb.2_Missense_Mutation_p.R72L|ATP1A2_uc010piz.1_5'Flank	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	72					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.R72L(2)|p.A71S(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GTTCTGGCTCGAGATGGGCCC	0.642													16	101					4.7546e-09	4.92441e-09	1	1	0	T	160093040	G	T	160093040	3	4	26	1	0	0	0	0	1	0	0	0	1129	1058	37	5	229	5	ATP1A2	1	160093040	Missense_Mutation	SNP	G	TCGA-DB-5279-01A-01D-1468-08	2601961	160093040	89157581	5	1023											
XPR1	9213	broad.mit.edu	37	chr1	180804077	180804077	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggctggcggatcagctgaAcagcctgtcagtgatactga	9	9	13	10	1	2	3	2	3	0	0	2	4	2	4	1	3	4	2	1	3	2	1			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr1:180804077A>C	uc001goi.3	+	9	1394	c.1202A>C	c.(1201-1203)aAc>aCc	p.N401T	XPR1_uc009wxm.2_Missense_Mutation_p.N401T|XPR1_uc009wxn.3_Missense_Mutation_p.N401T	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 1, mRNA.	401						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GATCAGCTGAACAGCCTGTCA	0.418													7	45					0	0	1	0	0	C	180804077	A	C	180804077	3	2	26	1	0	0	0	0	1	0	0	0	17448	43	2	5	1240	5	XPR1	1	180804077	Missense_Mutation	SNP	A	TCGA-DB-5279-01A-01D-1468-08	20711037	180804077	68446544	6	1024											
NCF2	4688	broad.mit.edu	37	chr1	183543623	183543623	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcaccaatacgcttaccCagacacactccatcgccttg	11	8	5	17	2	1	1	1	0	0	1	3	1	2	1	4	0	2	2	4	0	3	3			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr1:183543623C>T	uc001gqj.4	-	4	776	c.501_splice	c.e4+1	p.W167_splice	NCF2_uc010pod.2_Intron|NCF2_uc010poe.2_Intron|NCF2_uc001gqk.4_Splice_Site_p.W167_splice	NM_000433	NP_001121123	P19878	NCF2_HUMAN	Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.	167					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						TACGCTTACCCAGACACACTC	0.463													138	157					0	0	1	0	0	T	183543623	C	T	183543623	5	4	26	1	0	0	0	0	0	0	1	0	10217	608	21	3	1128	3	NCF2	1	183543623	Splice_Site	SNP	C	TCGA-DB-5279-01A-01D-1468-08	2739546	183543623	65706998	7	1025											
ESRRG	2104	broad.mit.edu	37	chr1	216824353	216824353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttttaaacacttcatgaagCggcaagcctggcaggattta	12	11	9	9	1	1	1	1	1	0	0	1	2	1	2	1	3	3	2	1	3	5	5			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr1:216824353C>T	uc001hkw.2	-	2	724	c.551G>A	c.(550-552)cGc>cAc	p.R184H	ESRRG_uc009xdp.1_Missense_Mutation_p.R161H|ESRRG_uc001hky.1_Missense_Mutation_p.R161H|ESRRG_uc001hkz.2_Intron|ESRRG_uc010puc.2_Missense_Mutation_p.R161H|ESRRG_uc001hla.2_Missense_Mutation_p.R161H|ESRRG_uc001hlb.2_Missense_Mutation_p.R161H|ESRRG_uc010pud.2_5'UTR|ESRRG_uc021pja.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.R161H|ESRRG_uc001hld.1_Missense_Mutation_p.R161H|ESRRG_uc001hkx.2_Missense_Mutation_p.R189H|ESRRG_uc009xdo.2_Missense_Mutation_p.R161H|ESRRG_uc001hle.2_Missense_Mutation_p.R161H|ESRRG_uc021piz.1_Missense_Mutation_p.R161H|Mir_598_uc021pjb.1_5'Flank	NM_001438	NP_001230435	P62508	ERR3_HUMAN	Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA.	184					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.R184S(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CTTCATGAAGCGGCAAGCCTG	0.448													26	152					0	0	1	0	0	T	216824353	C	T	216824353	3	4	26	1	0	0	0	0	1	0	0	0	5262	768	27	1	845	1	ESRRG	1	216824353	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	33280730	216824353	32426268	8	1026											
MARK1	4139	broad.mit.edu	37	chr1	220831178	220831178	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaaccgacacctcaaggTgaggagccactattaatact	14	7	9	11	1	1	2	1	1	0	1	1	4	1	3	3	2	3	1	3	2	5	3			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr1:220831178T>G	uc009xdw.3	+	17	2633	c.2036_splice	c.e17+2	p.R679_splice	MARK1_uc001hmn.4_Splice_Site_p.R678_splice|MARK1_uc010pun.2_Intron|MARK1_uc001hmm.4_Intron	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA.	678					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CACCTCAAGGTGAGGAGCCAC	0.378													4	14					0	0	1	0	0	G	220831178	T	G	220831178	5	3	26	1	0	0	0	0	0	0	1	0	9312	1710	59	5	2101	5	MARK1	1	220831178	Splice_Site	SNP	T	TCGA-DB-5279-01A-01D-1468-08	4006825	220831178	28419443	9	1027											
REG3G	130120	broad.mit.edu	37	chr2	79253917	79253917	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcctatggctccccctgctAtgccttgtttttgtcaccaa	5	14	8	14	0	1	0	1	0	0	0	2	0	2	0	5	2	2	3	5	2	3	5			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr2:79253917A>G	uc002snw.3	+	2	240	c.155A>G	c.(154-156)tAt>tGt	p.Y52C	REG3G_uc002snx.3_Missense_Mutation_p.Y52C|REG3G_uc010ffu.3_Missense_Mutation_p.Y52C	NM_198448	NP_940850	Q6UW15	REG3G_HUMAN	Homo sapiens regenerating islet-derived 3 gamma (REG3G), transcript variant 2, mRNA.	52	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCCCCTGCTATGCCTTGTTT	0.542													13	23					0	0	1	0	0	G	79253917	A	G	79253917	3	3	26	1	0	0	0	0	1	0	0	0	13213	449	16	3	161	3	REG3G	2	79253917	Missense_Mutation	SNP	A	TCGA-DB-5279-01A-01D-1468-08		79253917	163945456	10	1028											
NCKAP5	344148	broad.mit.edu	37	chr2	133486435	133486436	+	Frame_Shift_Ins	INS	-	-	G																															cccccagtctggaagcggctINSggcttgccattgggtcttca																										TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr2:133486435_133486436insG	uc002ttp.3	-	17	5907_5908	c.5533_5534insC	c.(5533-5535)cagfs	p.Q1845fs	NCKAP5_uc002ttq.3_Frame_Shift_Ins_p.Q526fs	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1845							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGGAAGCGGCTGGCTTGCCATT	0.545													9	355	---	---	---	---						G	133486436	-	G	133486435	7	5	26	1	0	1	1	0	0	0	0	0	10223	1580	55	0	207	0	NCKAP5	2	133486435	Frame_Shift_Ins	INS	-	TCGA-DB-5279-01A-01D-1468-08	54232518	133486435	109712938	11	1029											
SPOPL	339745	broad.mit.edu	37	chr2	139308482	139308482	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttttattttaggtgcctgagGgtaaacccaaagggattaga	12	13	11	5	0	0	2	0	1	0	1	0	3	0	3	2	3	2	1	2	3	6	6			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr2:139308482G>A	uc002tvh.3	+	3	610	c.210G>A	c.(208-210)agG>agA	p.R70R		NM_001001664	NP_001001664	Q6IQ16	SPOPL_HUMAN	Homo sapiens speckle-type POZ protein-like (SPOPL), mRNA.	70	MATH.					nucleus		p.L69L(2)		breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GGTGCCTGAGGGTAAACCCAA	0.378													35	153					0	0	1	0	0	A	139308482	G	A	139308482	2	1	26	1	0	0	0	0	0	0	0	1	15084	1223	43	3		3	SPOPL	2	139308482	Silent	SNP	G	TCGA-DB-5279-01A-01D-1468-08	5822047	139308482	103890891	12	1030											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								60	67					0	0	1	0	0	T	209113112	C	T	209113112	3	4	26	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	69804630	209113112	34086261	13	1031											
SUMF1	285362	broad.mit.edu	37	chr3	4491010	4491010	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcaaagacaaaggagtcGccaaacttctcagcctataa	15	8	6	12	1	2	1	2	0	1	1	4	2	2	2	3	1	2	0	3	1	5	4	rs148557574		TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr3:4491010G>A	uc003bpz.2	-	2	496	c.459C>T	c.(457-459)ggC>ggT	p.G153G	SUMF1_uc003bps.2_Non-coding_Transcript|SUMF1_uc011ass.2_Intron|SUMF1_uc010hby.2_Silent_p.G153G|SUMF1_uc011ast.2_Intron	NM_182760	NP_877437	Q8NBK3	SUMF1_HUMAN	Homo sapiens sulfatase modifying factor 1 (SUMF1), transcript variant 1, mRNA.	153						endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		CAAAGGAGTCGCCAAACTTCT	0.403													104	145					0	0	1	0	0	A	4491010	G	A	4491010	2	1	26	1	0	0	0	0	0	0	0	1	15382	1074	38	1		1	SUMF1	3	4491010	Silent	SNP	G	TCGA-DB-5279-01A-01D-1468-08		4491010	193531420	14	1032											
RBM6	10180	broad.mit.edu	37	chr3	50099412	50099412	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcaagaagtctatgtgccCcaggatcctggattacctga	11	9	10	11	0	1	2	0	1	1	1	2	4	2	4	4	2	3	1	4	2	4	2			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr3:50099412C>T	uc003cyc.3	+	14	2705	c.2457C>T	c.(2455-2457)ccC>ccT	p.P819P	RBM6_uc010hlc.2_Silent_p.P338P|RBM6_uc003cyd.3_Silent_p.P297P|RBM6_uc011bdi.2_Silent_p.P161P|RBM6_uc003cye.3_Silent_p.P297P|RBM6_uc010hlf.2_Non-coding_Transcript|RBM6_uc010hld.2_Non-coding_Transcript|RBM6_uc010hle.2_Non-coding_Transcript	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	819					RNA processing	nucleus	DNA binding|RNA binding|nucleotide binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TCTATGTGCCCCAGGATCCTG	0.438													20	41					0	0	1	0	0	T	50099412	C	T	50099412	2	4	26	1	0	0	0	0	0	0	0	1	13144	610	22	3		3	RBM6	3	50099412	Silent	SNP	C	TCGA-DB-5279-01A-01D-1468-08	45608402	50099412	147923018	15	1033											
FXR1	8087	broad.mit.edu	37	chr3	180679280	180679280	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggttccatttgtatttgttGgcactaaagaaagcattgga	11	15	10	5	0	0	1	0	0	0	1	1	2	1	2	1	3	1	5	1	3	4	7			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr3:180679280G>T	uc003fkq.3	+	10	1255	c.1015G>T	c.(1015-1017)Ggc>Tgc	p.G339C	FXR1_uc003fkp.3_Missense_Mutation_p.G254C|FXR1_uc003fkr.3_Missense_Mutation_p.G339C|FXR1_uc011bqj.2_Missense_Mutation_p.G253C|FXR1_uc003fks.3_Missense_Mutation_p.G253C|FXR1_uc011bqk.2_Missense_Mutation_p.G290C|FXR1_uc011bql.2_Missense_Mutation_p.G326C	NM_005087	NP_001013457	P51114	FXR1_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 1 (FXR1), transcript variant 1, mRNA.	339					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TGTATTTGTTGGCACTAAAGA	0.308													4	123					0.150653	0.152405	1	1	0	T	180679280	G	T	180679280	3	4	26	1	0	0	0	0	1	0	0	0	6115	1348	47	5	1057	5	FXR1	3	180679280	Missense_Mutation	SNP	G	TCGA-DB-5279-01A-01D-1468-08	130579868	180679280	17343150	16	1034											
MCCC1	56922	broad.mit.edu	37	chr3	182759530	182759530	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaaggaatcttctctccTgctgcaatctggcaatagaa	12	11	7	11	0	4	1	1	0	3	1	6	2	5	2	1	2	2	3	1	2	6	2			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr3:182759530T>C	uc003fle.3	-	10	1229	c.1092A>G	c.(1090-1092)gcA>gcG	p.A364A	MCCC1_uc010hxi.3_Non-coding_Transcript|MCCC1_uc011bqo.2_Non-coding_Transcript|MCCC1_uc003flf.3_Silent_p.A247A|MCCC1_uc003flg.3_Silent_p.A255A|MCCC1_uc011bqp.1_Silent_p.A317A	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 1 (alpha) (MCCC1), nuclear gene encoding mitochondrial protein, mRNA.	364	ATP-grasp.|Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	TCTTCTCTCCTGCTGCAATCT	0.403													82	120					0	0	1	0	0	C	182759530	T	C	182759530	2	2	26	1	0	0	0	0	0	0	0	1	9374	1567	55	4		4	MCCC1	3	182759530	Silent	SNP	T	TCGA-DB-5279-01A-01D-1468-08	2080250	182759530	15262900	17	1035											
LRCH3	84859	broad.mit.edu	37	chr3	197559180	197559180	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggcagtttggtagtaacaaAcggcggaggtaaacataatt	14	9	12	6	3	0	0	0	0	0	0	0	1	0	1	0	5	3	5	0	5	6	6			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr3:197559180A>G	uc011bul.1	+	7	1099	c.1094A>G	c.(1093-1095)aAc>aGc	p.N365S	LRCH3_uc003fyj.1_Missense_Mutation_p.N365S|LRCH3_uc011bum.1_Missense_Mutation_p.N365S|LRCH3_uc011bun.1_Missense_Mutation_p.N239S|LRCH3_uc003fyk.2_5'UTR	NM_032773	NP_116162	Q96II8	LRCH3_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 3 (LRCH3), mRNA.	365						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		GTAGTAACAAACGGCGGAGGT	0.408													17	57					0	0	1	0	0	G	197559180	A	G	197559180	3	3	26	1	0	0	0	0	1	0	0	0	8934	43	2	3	1124	3	LRCH3	3	197559180	Missense_Mutation	SNP	A	TCGA-DB-5279-01A-01D-1468-08	14799650	197559180	463250	18	1036											
KIAA1109	84162	broad.mit.edu	37	chr4	123192264	123192264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgtaatggaaaagtccGtgtgcacccctcagaactct	10	11	9	11	1	2	1	1	0	1	1	3	2	3	2	3	1	2	3	3	1	4	2			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr4:123192264G>A	uc003ieh.3	+	44	7630	c.7585G>A	c.(7585-7587)Gtg>Atg	p.V2529M	KIAA1109_uc003iel.1_Missense_Mutation_p.V464M|KIAA1109_uc003iek.2_Missense_Mutation_p.V1148M	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	2529					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGAAAAGTCCGTGTGCACCCC	0.438													52	143					0	0	1	0	0	A	123192264	G	A	123192264	3	1	26	1	0	0	0	0	1	0	0	0	8208	1145	40	1	7763	1	KIAA1109	4	123192264	Missense_Mutation	SNP	G	TCGA-DB-5279-01A-01D-1468-08		123192264	67962012	19	1037											
PIK3R1	5295	broad.mit.edu	37	chr5	67589138	67589138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attgtttttacaggaaagggGgaaataacaaattaatcaaa	19	11	8	3	0	1	0	1	0	0	0	1	2	1	2	0	3	2	1	0	3	7	6			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr5:67589138G>A	uc003jva.3	+	9	1706	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	PIK3R1_uc003jvc.3_Missense_Mutation_p.G76R|PIK3R1_uc003jvd.3_Missense_Mutation_p.G106R|PIK3R1_uc003jve.3_Missense_Mutation_p.G55R|PIK3R1_uc021xzn.1_Missense_Mutation_p.G13R|PIK3R1_uc011crb.2_Missense_Mutation_p.G46R	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	376	SH2 1.				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.G376R(11)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAGGAAAGGGGGAAATAACAA	0.308			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			40	70					0	0	1	0	0	A	67589138	G	A	67589138	3	1	26	1	0	0	0	0	1	0	0	0	11918	1233	43	3	1290	3	PIK3R1	5	67589138	Missense_Mutation	SNP	G	TCGA-DB-5279-01A-01D-1468-08		67589138	113326122	20	1038											
ZCCHC9	84240	broad.mit.edu	37	chr5	80607067	80607070	+	Frame_Shift_Del	DEL	AAAG	AAAG	-																															tgtggctctgtggaacatttAaagaaagattgccctgaaag																										TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr5:80607067_80607070delAAAG	uc003khk.4	+	4	1156_1159	c.666_669delAAAG	c.(664-669)ttaaagfs	p.L222fs	RNU5E-1_uc011cto.1_Intron|ZCCHC9_uc003khi.3_Frame_Shift_Del_p.L222fs|ZCCHC9_uc003khj.3_Frame_Shift_Del_p.L222fs	NM_032280	NP_115656	Q8N567	ZCHC9_HUMAN	Homo sapiens zinc finger, CCHC domain containing 9 (ZCCHC9), transcript variant 1, mRNA.	222							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		TGGAACATTTAAAGAAAGATTGCC	0.417													190	349	---	---	---	---						-	80607070	AAAG	-	80607067	7	5	26	1	0	1	0	1	0	0	0	0	17592	359	13	0	680	0	ZCCHC9	5	80607067	Frame_Shift_Del	DEL	AAAG	TCGA-DB-5279-01A-01D-1468-08	13017929	80607067	100308193	21	1039											
TMCO6	55374	broad.mit.edu	37	chr5	140024213	140024214	+	Frame_Shift_Ins	INS	-	-	G																															cctgcttactgccagcggctINSgtggccagggcccctgcttc																								rs4147626		TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr5:140024213_140024214insG	uc003lgm.3	+	10	1375_1376	c.1274_1275insG	c.(1273-1275)ctgfs	p.L425fs	TMCO6_uc003lgl.3_Frame_Shift_Ins_p.L419fs|TMCO6_uc010jft.3_Frame_Shift_Ins_p.L179fs|TMCO6_uc003lgn.3_Frame_Shift_Ins_p.L310fs|TMCO6_uc003lgo.3_Frame_Shift_Ins_p.L179fs	NM_018502	NP_060972	Q96DC7	TMCO6_HUMAN	Homo sapiens transmembrane and coiled-coil domains 6 (TMCO6), mRNA.	419					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCAGCGGCTGTGGCCAGGGC	0.51													9	426	---	---	---	---						G	140024214	-	G	140024213	7	5	26	1	0	1	1	0	0	0	0	0	15997	1580	55	0	1298	0	TMCO6	5	140024213	Frame_Shift_Ins	INS	-	TCGA-DB-5279-01A-01D-1468-08	59417146	140024213	40891047	22	1040											
PCDHB3	56132	broad.mit.edu	37	chr5	140481839	140481839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcgtgggcgccacagacCgtggctccccggctttgagc	4	7	14	16	5	0	2	0	1	0	1	2	2	2	2	5	3	1	2	5	3	0	1			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr5:140481839C>T	uc003lio.3	+	0	1606	c.1606C>T	c.(1606-1608)Cgt>Tgt	p.R536C	BC016751_uc003lin.3_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	536	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCACAGACCGTGGCTCCCC	0.672													17	55					0	0	1	0	0	T	140481839	C	T	140481839	3	4	26	1	0	0	0	0	1	0	0	0	11543	652	23	2	1608	2	PCDHB3	5	140481839	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	457626	140481839	40433421	23	1041											
PCDHGC5	56097	broad.mit.edu	37	chr5	140711827	140711827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcgactatgagcagttcCgggacatgcaactgaaagtg	11	9	11	10	2	0	2	0	2	0	0	2	4	1	3	2	1	3	3	2	1	3	3			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr5:140711827C>T	uc003lji.2	+	0	1576	c.1576C>T	c.(1576-1578)Cgg>Tgg	p.R526W	PCDHGC5_uc011dan.2_Missense_Mutation_p.R526W	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	528	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCAGTTCCGGGACATGCA	0.587													72	255					0	0	1	0	0	T	140711827	C	T	140711827	3	4	26	1	0	0	0	0	1	0	0	0	11571	643	23	2		2	PCDHGC5	5	140711827	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	229988	140711827	40203433	24	1042											
GRPEL2	134266	broad.mit.edu	37	chr5	148727842	148727842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcctgttttaggggatggCcgcttccattcagcactgcc	5	13	10	13	1	1	0	1	0	0	0	3	1	3	1	4	3	2	3	4	3	1	5			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr5:148727842C>T	uc003lqj.3	+	1	211	c.85C>T	c.(85-87)Ccg>Tcg	p.P29S	GRPEL2_uc011dca.2_Missense_Mutation_p.P29S	NM_152407	NP_689620	Q8TAA5	GRPE2_HUMAN	Homo sapiens GrpE-like 2, mitochondrial (E. coli) (GRPEL2), nuclear gene encoding mitochondrial protein, mRNA.	29					protein folding	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGGGGATGGCCGCTTCCATT	0.517													28	105					0	0	1	0	0	T	148727842	C	T	148727842	3	4	26	1	0	0	0	0	1	0	0	0	6807	739	26	3	91	3	GRPEL2	5	148727842	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	8016015	148727842	32187418	25	1043											
NEDD9	4739	broad.mit.edu	37	chr6	11190997	11190997	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcctgtactggagaaagAcaatcggttgatcccatcca	11	9	10	11	1	0	3	0	1	0	2	3	4	2	3	3	2	2	3	3	2	3	2			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr6:11190997A>G	uc003mzv.2	-	4	1272	c.1105T>C	c.(1105-1107)Tct>Cct	p.S369P	NEDD9_uc010joz.2_Missense_Mutation_p.S369P|NEDD9_uc003mzw.3_Missense_Mutation_p.S223P	NM_006403	NP_006394	Q14511	CASL_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 9 (NEDD9), transcript variant 1, mRNA.	369					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	Golgi apparatus|cell cortex|focal adhesion|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			CTGGAGAAAGACAATCGGTTG	0.547													55	49					0	0	1	0	0	G	11190997	A	G	11190997	3	3	26	1	0	0	0	0	1	0	0	0	10313	275	10	3	1411	3	NEDD9	6	11190997	Missense_Mutation	SNP	A	TCGA-DB-5279-01A-01D-1468-08		11190997	159924070	26	1044											
GPX6	257202	broad.mit.edu	37	chr6	28472105	28472105	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttaggtactccaggatGtctgacttgactgtgctgac	7	14	11	9	0	1	3	0	3	1	0	2	4	2	4	1	2	3	3	1	2	2	4			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr6:28472105G>A	uc021yrx.1	-	4	680	c.630C>T	c.(628-630)gaC>gaT	p.D210D	GPX6_uc010jrg.1_Non-coding_Transcript	NM_182701	NP_874360	P59796	GPX6_HUMAN	Homo sapiens glutathione peroxidase 6 (olfactory) (GPX6), mRNA.	210					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	ACTCCAGGATGTCTGACTTGA	0.502													59	71					0	0	1	0	0	A	28472105	G	A	28472105	2	1	26	1	0	0	0	0	0	0	0	1	6744	1368	48	3		3	GPX6	6	28472105	Silent	SNP	G	TCGA-DB-5279-01A-01D-1468-08	17281108	28472105	142642962	27	1045											
ABCC10	89845	broad.mit.edu	37	chr6	43400462	43400462	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggcagcctcaggacatttgCcgcctcccccacagactgca	8	6	9	18	2	1	1	1	0	0	1	2	2	2	2	5	2	3	2	5	2	0	1			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr6:43400462C>T	uc003ouy.1	+	2	959	c.744C>T	c.(742-744)tgC>tgT	p.C248C	ABCC10_uc003ouz.1_Silent_p.C205C	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	248						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.C205C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AGGACATTTGCCGCCTCCCCC	0.642													3	35					0	0	1	0	0	T	43400462	C	T	43400462	2	4	26	1	0	0	0	0	0	0	0	1	50	747	26	3		3	ABCC10	6	43400462	Silent	SNP	C	TCGA-DB-5279-01A-01D-1468-08	14928357	43400462	127714605	28	1046											
PAQR8	85315	broad.mit.edu	37	chr6	52268301	52268301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttgcgattctgggcctttgCcgaggctgaggccttgccat	4	12	13	12	2	1	1	0	1	1	0	1	3	1	1	4	3	3	1	4	3	0	4			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr6:52268301C>T	uc003pao.4	+	1	464	c.290C>T	c.(289-291)gCc>gTc	p.A97V	PAQR8_uc021zal.1_Missense_Mutation_p.A97V	NM_133367	NP_588608	Q8TEZ7	MPRB_HUMAN	Homo sapiens progestin and adipoQ receptor family member VIII (PAQR8), mRNA.	97					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	p.A97A(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					TGGGCCTTTGCCGAGGCTGAG	0.572													15	66					0	0	1	0	0	T	52268301	C	T	52268301	3	4	26	1	0	0	0	0	1	0	0	0	11441	739	26	3	292	3	PAQR8	6	52268301	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	8867839	52268301	118846766	29	1047											
SIM1	6492	broad.mit.edu	37	chr6	100841631	100841631	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccgaaaactgtctgtaggcGcacgatgcgtcgtgctggga	8	9	14	10	5	1	0	0	0	1	0	3	3	2	1	1	2	3	3	1	2	3	1			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr6:100841631G>A	uc003pqj.4	-	9	1769	c.1302C>T	c.(1300-1302)tgC>tgT	p.C434C	SIM1_uc021zdg.1_Silent_p.C434C|SIM1_uc010kcu.3_Silent_p.C434C	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	434	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTCTGTAGGCGCACGATGCGT	0.617													19	65					0	0	1	0	0	A	100841631	G	A	100841631	2	1	26	1	0	0	0	0	0	0	0	1	14323	1079	38	1		1	SIM1	6	100841631	Silent	SNP	G	TCGA-DB-5279-01A-01D-1468-08	48573330	100841631	70273436	30	1048											
SLA	6503	broad.mit.edu	37	chr8	134050855	134050855	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagatgcttttcttctttcGatcaaaggaggtgttgtcct	7	16	11	7	1	3	1	1	0	2	1	5	4	4	2	1	3	1	2	1	3	1	5			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr8:134050855G>A	uc011ljd.2	-	6	943	c.865C>T	c.(865-867)Cga>Tga	p.R289*	TG_uc003ytw.3_Intron|TG_uc010mdw.3_Intron|TG_uc011ljb.2_Intron|TG_uc011ljc.2_Intron|SLA_uc003ytz.3_Nonsense_Mutation_p.R249*|SLA_uc011lje.2_Nonsense_Mutation_p.R266*|SLA_uc011ljf.2_Nonsense_Mutation_p.R141*|SLA_uc011ljg.2_Nonsense_Mutation_p.R222*	NM_006748	NP_006739	Q13239	SLAP1_HUMAN	Homo sapiens Src-like-adaptor (SLA), transcript variant 3, mRNA.	249						endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			TTCTTCTTTCGATCAAAGGAG	0.498													61	196					0	0	1	0	0	A	134050855	G	A	134050855	4	1	26	1	0	0	0	0	0	1	0	0	14363	1066	37	2	89	2	SLA	8	134050855	Nonsense_Mutation	SNP	G	TCGA-DB-5279-01A-01D-1468-08		134050855	12313167	31	1049											
JAK2	3717	broad.mit.edu	37	chr9	5090496	5090496	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttaccatatggaagtttaCgagactatcttcaaaaacat	16	13	5	7	1	2	1	1	0	1	1	2	3	2	2	1	1	3	1	1	1	7	7			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr9:5090496C>T	uc010mhm.3	+	19	2925	c.2812C>T	c.(2812-2814)Cga>Tga	p.R938*	JAK2_uc003ziw.3_Nonsense_Mutation_p.R938*	NM_004972	NP_004963	O60674	JAK2_HUMAN	Homo sapiens Janus kinase 2 (JAK2), mRNA.	938	Protein kinase 2.				JAK-STAT cascade involved in growth hormone signaling pathway|STAT protein import into nucleus|actin filament polymerization|activation of JAK2 kinase activity|activation of caspase activity by protein phosphorylation|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of DNA binding|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|SH2 domain binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TGGAAGTTTACGAGACTATCT	0.313		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial				103	21					0	0	1	0	0	T	5090496	C	T	5090496	4	4	26	1	0	0	0	0	0	1	0	0	7938	528	19	1	2886	1	JAK2	9	5090496	Nonsense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08		5090496	136122935	32	1050											
CKS2	1164	broad.mit.edu	37	chr9	91926227	91926227	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatggcccacaagcagatctActactcggacaagtacttcg	12	8	9	12	2	1	1	0	0	1	1	3	3	1	2	1	2	4	2	1	2	5	4			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr9:91926227A>G	uc004aqh.3	+	0	115	c.20A>G	c.(19-21)tAc>tGc	p.Y7C	MIR3153_uc022bjn.1_5'Flank	NM_001827	NP_001818	P33552	CKS2_HUMAN	Homo sapiens CDC28 protein kinase regulatory subunit 2 (CKS2), mRNA.	7					cell division|cell proliferation|phosphatidylinositol-mediated signaling|regulation of cyclin-dependent protein kinase activity|spindle organization		cyclin-dependent protein kinase regulator activity			kidney(1)|large_intestine(1)	2						AAGCAGATCTACTACTCGGAC	0.642													14	17					0	0	1	0	0	G	91926227	A	G	91926227	3	3	26	1	0	0	0	0	1	0	0	0	3453	391	14	3	22	3	CKS2	9	91926227	Missense_Mutation	SNP	A	TCGA-DB-5279-01A-01D-1468-08	86835731	91926227	49287204	33	1051											
RPL7A	6130	broad.mit.edu	37	chr9	136217156	136217156	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctggtggtgattgcacaCgacgtggatcccatcgaggt	8	9	14	10	3	0	1	0	1	0	0	2	4	1	2	1	4	2	2	1	4	0	1	rs142456845	by1000genomes	TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr9:136217156C>T	uc004cde.1	+	4	507	c.477C>T	c.(475-477)caC>caT	p.H159H	MED22_uc004cdc.3_5'Flank|MED22_uc004cdd.3_5'Flank|SNORD36A_uc010naj.3_5'Flank|RPL7A_uc022boy.1_5'Flank|SNORD36C_uc010nak.3_5'Flank	NM_000972	NP_000963	P62424	RL7A_HUMAN	Homo sapiens ribosomal protein L7a (RPL7A), mRNA.	159					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		TGATTGCACACGACGTGGATC	0.522													9	35					0	0	1	0	0	T	136217156	C	T	136217156	2	4	26	1	0	0	0	0	0	0	0	1	13600	535	19	1		1	RPL7A	9	136217156	Silent	SNP	C	TCGA-DB-5279-01A-01D-1468-08	44290929	136217156	4996275	34	1052											
SHOC2	8036	broad.mit.edu	37	chr10	112745430	112745430	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggatgtagctcacaatcaaCttgaacaccttccaaaggag	14	9	8	10	0	2	1	2	1	0	0	3	3	3	3	2	2	3	2	2	2	5	3			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr10:112745430C>A	uc001kzl.4	+	2	1097	c.748C>A	c.(748-750)Ctt>Att	p.L250I	SHOC2_uc009xxx.3_Missense_Mutation_p.L250I|SHOC2_uc010qrg.2_5'UTR|SHOC2_uc001kzn.3_Intron	NM_007373	NP_031399	Q9UQ13	SHOC2_HUMAN	Homo sapiens soc-2 suppressor of clear homolog (C. elegans) (SHOC2), mRNA.	250					Ras protein signal transduction|fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		TCACAATCAACTTGAACACCT	0.368													9	91					0.000442599	0.000453013	1	1	0	A	112745430	C	A	112745430	3	1	26	1	0	0	0	0	1	0	0	0	14287	565	20	5	754	5	SHOC2	10	112745430	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08		112745430	22789317	35	1053											
MRVI1	10335	broad.mit.edu	37	chr11	10615122	10615122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaacttaggaaccacagcaaCgctgaccctccggcgaggca	13	4	10	14	3	0	1	0	1	0	0	1	3	1	2	3	3	4	3	3	3	4	1			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr11:10615122C>T	uc010rcc.1	-	16	2478	c.2092G>A	c.(2092-2094)Gtt>Att	p.V698I	MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|MRVI1_uc010rcb.1_Missense_Mutation_p.V690I|MRVI1_uc001miw.2_Missense_Mutation_p.V689I|MRVI1_uc001mix.3_Missense_Mutation_p.V383I|MRVI1_uc001miz.2_Missense_Mutation_p.V607I|MRVI1_uc010rcd.1_Missense_Mutation_p.V492I|MRVI1_uc009ygd.1_Missense_Mutation_p.V383I|MRVI1_uc010rce.1_Non-coding_Transcript	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	671					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		ACCACAGCAACGCTGACCCTC	0.517													30	29					0	0	1	0	0	T	10615122	C	T	10615122	3	4	26	1	0	0	0	0	1	0	0	0	9853	536	19	1	666	1	MRVI1	11	10615122	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08		10615122	124391394	36	1054											
SART1	9092	broad.mit.edu	37	chr11	65733982	65733982	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggctcagtccctgagcacAgtggggccccggctggcctc	5	6	14	16	1	1	1	1	1	0	0	3	1	2	1	4	5	1	3	4	5	0	0			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr11:65733982A>G	uc001ogl.3	+	8	1235	c.1143A>G	c.(1141-1143)acA>acG	p.T381T	SART1_uc010rot.1_3'UTR	NM_005146	NP_005137	O43290	SNUT1_HUMAN	Homo sapiens squamous cell carcinoma antigen recognized by T cells (SART1), mRNA.	381					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCTGAGCACAGTGGGGCCCC	0.677													5	15					0	0	1	0	0	G	65733982	A	G	65733982	2	3	26	1	0	0	0	0	0	0	0	1	13846	175	7	4		4	SART1	11	65733982	Silent	SNP	A	TCGA-DB-5279-01A-01D-1468-08	55118860	65733982	69272534	37	1055											
DLG2	1740	broad.mit.edu	37	chr11	84996386	84996386	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttgagaatttagcaatgTcacctcataaaattcttgga	13	16	6	6	0	3	1	2	1	1	1	3	3	3	2	1	1	1	1	1	1	5	7			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr11:84996386T>G	uc001pak.2	-	3	376	c.64A>C	c.(64-66)Aca>Cca	p.T22P		NM_001142699	NP_001136171	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 1, mRNA.	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TTTAGCAATGTCACCTCATAA	0.348													7	166					0	0	1	0	0	G	84996386	T	G	84996386	3	3	26	1	0	0	0	0	1	0	0	0	4555	1667	58	5	3168	5	DLG2	11	84996386	Missense_Mutation	SNP	T	TCGA-DB-5279-01A-01D-1468-08	19262404	84996386	50010130	38	1056											
HTR3A	3359	broad.mit.edu	37	chr11	113852031	113852031	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggacattctcatcaatgAgttgtgagtaccgttatcca	10	12	8	11	2	2	2	2	2	1	0	4	3	3	3	3	1	1	3	3	1	3	4			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr11:113852031A>T	uc010rxb.2	+	3	622	c.389A>T	c.(388-390)gAg>gTg	p.E130V	HTR3A_uc010rxa.2_Missense_Mutation_p.E130V|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Missense_Mutation_p.E109V	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	124					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	p.G129W(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CTCATCAATGAGTTGTGAGTA	0.512													23	32					0	0	1	0	0	T	113852031	A	T	113852031	3	4	26	1	0	0	0	0	1	0	0	0	7444	304	11	5	429	5	HTR3A	11	113852031	Missense_Mutation	SNP	A	TCGA-DB-5279-01A-01D-1468-08	28855645	113852031	21154485	39	1057											
MIPEP	4285	broad.mit.edu	37	chr13	24411745	24411745	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaatgcatggcatgtcccaTttcatggaaaagattttcca	12	13	8	8	0	1	2	1	1	0	1	3	3	3	3	2	2	1	2	2	2	3	3			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr13:24411745T>C	uc001uox.4	-	12	1617	c.1489A>G	c.(1489-1491)Atg>Gtg	p.M497V		NM_005932	NP_005923	Q99797	MIPEP_HUMAN	Homo sapiens mitochondrial intermediate peptidase (MIPEP), nuclear gene encoding mitochondrial protein, mRNA.	497					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	p.M497I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		GCATGTCCCATTTCATGGAAA	0.438													57	202					0	0	1	0	0	C	24411745	T	C	24411745	3	2	26	1	0	0	0	0	1	0	0	0	9592	1493	52	3	680	3	MIPEP	13	24411745	Missense_Mutation	SNP	T	TCGA-DB-5279-01A-01D-1468-08		24411745	90758133	40	1058											
FRY	10129	broad.mit.edu	37	chr13	32811758	32811758	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acaaggcctctcctcaaaaaCcagaagctcatcctccttga	13	8	5	15	0	3	2	2	1	1	1	6	2	5	2	5	1	2	1	5	1	4	1			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr13:32811758C>G	uc001utx.3	+	43	6549	c.6053C>G	c.(6052-6054)aCc>aGc	p.T2018S	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2018					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCCTCAAAAACCAGAAGCTCA	0.537													16	34					0	0	1	0	0	G	32811758	C	G	32811758	3	3	26	1	0	0	0	0	1	0	0	0	6063	507	18	5	6227	5	FRY	13	32811758	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	8400013	32811758	82358120	41	1059											
NBEA	26960	broad.mit.edu	37	chr13	35923243	35923243	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaaaggtatttttctttttAgattactgtgccatgctatg	9	19	7	6	0	1	1	0	0	1	1	1	1	1	1	1	1	3	2	1	1	6	9			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr13:35923243A>G	uc021rid.1	+	37	6438	c.5904_splice	c.e37-2	p.R1968_splice	NBEA_uc021ric.1_Splice_Site_p.R1965_splice|NBEA_uc010abi.3_Splice_Site_p.R624_splice	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	1968						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTTTCTTTTTAGATTACTGTG	0.313													16	40					0	0	1	0	0	G	35923243	A	G	35923243	5	3	26	1	0	0	0	0	0	0	1	0	10187	434	15	4	6048	4	NBEA	13	35923243	Splice_Site	SNP	A	TCGA-DB-5279-01A-01D-1468-08	3111485	35923243	79246635	42	1060											
TRPC4	7223	broad.mit.edu	37	chr13	38320234	38320234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcaaattgtttgcactgcCgtgacagctcttcatactcc	9	13	7	12	1	2	1	1	1	1	0	3	1	3	1	2	0	5	4	2	0	3	5			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr13:38320234C>T	uc010abx.3	-	2	972	c.737G>A	c.(736-738)cGg>cAg	p.R246Q	TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Missense_Mutation_p.R246Q|TRPC4_uc001uws.3_Missense_Mutation_p.R246Q|TRPC4_uc010tey.2_Missense_Mutation_p.R246Q|TRPC4_uc010abw.3_Intron|TRPC4_uc010aby.3_Missense_Mutation_p.R246Q	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	246					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTTGCACTGCCGTGACAGCTC	0.423													18	284					0	0	1	0	0	T	38320234	C	T	38320234	3	4	26	1	0	0	0	0	1	0	0	0	16577	652	23	2	2247	2	TRPC4	13	38320234	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	2396991	38320234	76849644	43	1061											
MYH7	4625	broad.mit.edu	37	chr14	23884933	23884933	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgctccaccacggcacgcaActcctccagctcagcctgca	8	6	7	20	2	1	0	1	0	0	0	4	0	4	0	5	1	5	5	5	1	1	0			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr14:23884933A>G	uc001wjx.3	-	34	5168	c.5062T>C	c.(5062-5064)Ttg>Ctg	p.L1688L		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1688					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ACGGCACGCAACTCCTCCAGC	0.622													3	55					0	0	1	0	0	G	23884933	A	G	23884933	2	3	26	1	0	0	0	0	0	0	0	1	10039	40	2	3		3	MYH7	14	23884933	Silent	SNP	A	TCGA-DB-5279-01A-01D-1468-08		23884933	83464607	44	1062											
MDGA2	161357	broad.mit.edu	37	chr14	47311142	47311142	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggataaggtcaccttcGaggacttaagatagagatga	14	8	12	7	1	1	3	1	1	0	2	2	7	1	5	2	3	0	0	2	3	3	4			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr14:47311142G>T	uc001wwj.4	-	16	3228	c.3070C>A	c.(3070-3072)Cga>Aga	p.R1024R	MDGA2_uc001wwh.4_Silent_p.R157R|MDGA2_uc001wwi.4_Silent_p.R726R	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	955					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GGTCACCTTCGAGGACTTAAG	0.388													3	53					1	1	1	1	0	T	47311142	G	T	47311142	2	4	26	1	0	0	0	0	0	0	0	1	9407	1066	37	5		5	MDGA2	14	47311142	Silent	SNP	G	TCGA-DB-5279-01A-01D-1468-08	23426209	47311142	60038398	45	1063											
TJP1	7082	broad.mit.edu	37	chr15	30024898	30024898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aacaggctgagcggacaaatCctctctgctttttcgaagat	11	11	9	10	2	1	2	0	1	1	1	4	4	2	3	1	2	3	2	1	2	3	2			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr15:30024898C>T	uc001zcr.3	-	13	2333	c.1858G>A	c.(1858-1860)Gat>Aat	p.D620N	TJP1_uc010azl.3_Missense_Mutation_p.D608N|TJP1_uc001zcq.3_Missense_Mutation_p.D624N|TJP1_uc001zcs.3_Missense_Mutation_p.D620N	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	620	Guanylate kinase-like.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GCGGACAAATCCTCTCTGCTT	0.433													46	95					0	0	1	0	0	T	30024898	C	T	30024898	3	4	26	1	0	0	0	0	1	0	0	0	15926	855	30	3	3448	3	TJP1	15	30024898	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08		30024898	72506494	46	1064											
FSIP1	161835	broad.mit.edu	37	chr15	39910063	39910063	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcccaatgccaagagtcttCgacataaaatagtcttttgt	12	13	6	10	1	2	1	0	0	2	1	4	2	3	1	2	0	1	0	2	0	5	5	rs144527032	byFrequency	TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr15:39910063C>T	uc001zki.3	-	10	1790	c.1572G>A	c.(1570-1572)tcG>tcA	p.S524S		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	Homo sapiens fibrous sheath interacting protein 1 (FSIP1), mRNA.	524										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		CAAGAGTCTTCGACATAAAAT	0.398													84	51					0	0	1	0	0	T	39910063	C	T	39910063	2	4	26	1	0	0	0	0	0	0	0	1	6074	871	31	2		2	FSIP1	15	39910063	Silent	SNP	C	TCGA-DB-5279-01A-01D-1468-08	9885165	39910063	62621329	47	1065											
ZNF592	9640	broad.mit.edu	37	chr15	85326612	85326612	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaaggatccggatgccactCgattcttcggggaagctttg	9	10	12	10	3	1	0	0	0	1	0	4	4	2	3	2	4	2	1	2	4	2	3			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr15:85326612C>T	uc002bld.3	+	3	1042	c.706C>T	c.(706-708)Cga>Tga	p.R236*	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	236					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGATGCCACTCGATTCTTCGG	0.567													26	99					0	0	1	0	0	T	85326612	C	T	85326612	4	4	26	1	0	0	0	0	0	1	0	0	18019	876	31	2	708	2	ZNF592	15	85326612	Nonsense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	45416549	85326612	17204780	48	1066											
CIITA	4261	broad.mit.edu	37	chr16	10997737	10997737	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacctgccctgacctccCgagcaaacatgacaggtaag	12	6	9	14	1	0	3	0	3	0	0	1	4	1	3	4	1	4	2	4	1	3	1			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr16:10997737C>T	uc002daj.4	+	8	1058	c.925C>T	c.(925-927)Cga>Tga	p.R309*	CIITA_uc002dai.4_Nonsense_Mutation_p.R308*|CIITA_uc002dak.4_Nonsense_Mutation_p.R259*|CIITA_uc002dag.2_Nonsense_Mutation_p.R308*|CIITA_uc002dah.2_Nonsense_Mutation_p.R260*|CIITA_uc010bup.1_Nonsense_Mutation_p.R308*	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	308					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCTGACCTCCCGAGCAAACAT	0.592			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "								30	99					0	0	1	0	0	T	10997737	C	T	10997737	4	4	26	1	0	0	0	0	0	1	0	0	3428	644	23	2	956	2	CIITA	16	10997737	Nonsense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08		10997737	79357016	49	1067											
ITGAL	3683	broad.mit.edu	37	chr16	30530025	30530025	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccacctctatggcagcaaCgcctccctggcccaggtatc	7	9	8	17	1	1	0	0	0	1	0	4	0	3	0	5	3	2	3	5	3	3	3			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr16:30530025C>T	uc002dyi.4	+	28	3389	c.3213C>T	c.(3211-3213)aaC>aaT	p.N1071N	ITGAL_uc002dyj.4_Silent_p.N987N|ITGAL_uc010vev.2_Silent_p.N305N	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	1071					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	ATGGCAGCAACGCCTCCCTGG	0.612													12	45					0	0	1	0	0	T	30530025	C	T	30530025	2	4	26	1	0	0	0	0	0	0	0	1	7886	535	19	1		1	ITGAL	16	30530025	Silent	SNP	C	TCGA-DB-5279-01A-01D-1468-08	19532288	30530025	59824728	50	1068											
TRPV3	162514	broad.mit.edu	37	chr17	3458040	3458040	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acccacctcttctttgtgggGgtgatctccgccggcctctt	3	13	10	15	2	4	1	0	1	4	0	5	1	4	1	5	3	0	0	5	3	0	3			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr17:3458040G>A	uc002fvr.2	-	1	427	c.105C>T	c.(103-105)acC>acT	p.T35T	TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Silent_p.T35T|TRPV3_uc010vrj.1_5'UTR|TRPV3_uc002fvu.3_Silent_p.T35T	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA.	35						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TCTTTGTGGGGGTGATCTCCG	0.657													25	25					0	0	1	0	0	A	3458040	G	A	3458040	2	1	26	1	0	0	0	0	0	0	0	1	16594	1219	43	3		3	TRPV3	17	3458040	Silent	SNP	G	TCGA-DB-5279-01A-01D-1468-08		3458040	77737170	51	1069											
ABHD15	116236	broad.mit.edu	37	chr17	27893210	27893210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgggcgagatgcaggcggCgcctgtcacgtagctggagg	7	5	18	11	5	1	1	1	0	0	1	1	3	1	2	1	5	2	3	1	5	1	1			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr17:27893210C>T	uc002hed.2	-	0	833	c.775G>A	c.(775-777)Gcc>Acc	p.A259T	TP53I13_uc002hee.3_5'Flank	NM_198147	NP_937790	Q6UXT9	ABH15_HUMAN	Homo sapiens abhydrolase domain containing 15 (ABHD15), mRNA.	259						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						ATGCAGGCGGCGCCTGTCACG	0.711													9	3					0	0	1	0	0	T	27893210	C	T	27893210	3	4	26	1	0	0	0	0	1	0	0	0	81	768	27	1	639	1	ABHD15	17	27893210	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	24435170	27893210	53302000	52	1070											
ABCC3	8714	broad.mit.edu	37	chr17	48741328	48741328	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggctctggttatcaccaaCtcagtcaaacgtgcgtccac	10	9	8	14	2	4	0	3	0	1	0	5	0	5	0	2	2	3	2	2	2	3	1			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr17:48741328C>G	uc002isl.3	+	9	1274	c.1194C>G	c.(1192-1194)aaC>aaG	p.N398K	ABCC3_uc002isk.4_Missense_Mutation_p.N398K|ABCC3_uc002ism.3_Missense_Mutation_p.L111V	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	398	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TTATCACCAACTCAGTCAAAC	0.587													8	90					0	0	1	0	0	G	48741328	C	G	48741328	3	3	26	1	0	0	0	0	1	0	0	0	54	564	20	5	1232	5	ABCC3	17	48741328	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	20848118	48741328	32453882	53	1071											
ATP8B3	148229	broad.mit.edu	37	chr19	1785266	1785266	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggatggtcgccacgcacaGggcggtccagtacttgatga	9	7	15	10	3	0	2	0	2	0	0	2	4	1	3	2	4	1	2	2	4	1	2			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr19:1785266G>A	uc002ltw.3	-	26	3658	c.3424C>T	c.(3424-3426)Ctg>Ttg	p.L1142L	ATP8B3_uc002ltv.3_Silent_p.L1105L|ATP8B3_uc002ltx.3_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	1142					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.E1141D(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		GCCACGCACAGGGCGGTCCAG	0.607													3	14					0	0	1	0	0	A	1785266	G	A	1785266	2	1	26	1	0	0	0	0	0	0	0	1	1196	991	35	3		3	ATP8B3	19	1785266	Silent	SNP	G	TCGA-DB-5279-01A-01D-1468-08		1785266	57343717	54	1072											
SAFB2	9667	broad.mit.edu	37	chr19	5587939	5587939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggcaccctgccaggcgcGtgcctggtgctcctctagcc	4	8	12	17	2	1	0	0	0	1	0	2	0	2	0	5	3	4	2	5	3	1	1			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr19:5587939G>A	uc002mcd.3	-	18	2790	c.2578C>T	c.(2578-2580)Cgc>Tgc	p.R860C		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	Homo sapiens scaffold attachment factor B2 (SAFB2), mRNA.	860	Gly-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein binding	p.R860L(1)		endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TGCCAGGCGCGTGCCTGGTGC	0.662													4	12					0	0	1	0	0	A	5587939	G	A	5587939	3	1	26	1	0	0	0	0	1	0	0	0	13807	1145	40	1	295	1	SAFB2	19	5587939	Missense_Mutation	SNP	G	TCGA-DB-5279-01A-01D-1468-08	3802673	5587939	53541044	55	1073											
MAG	4099	broad.mit.edu	37	chr19	35802842	35802842	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaacgtgacagagagcccCagcttctcggcaggggacaa	13	4	13	11	2	1	3	0	1	1	2	2	5	1	4	2	3	3	2	2	3	3	1			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr19:35802842C>T	uc002nyy.2	+	9	1836	c.1638C>T	c.(1636-1638)ccC>ccT	p.P546P	MAG_uc002nyx.2_Silent_p.P546P|MAG_uc010eds.2_Silent_p.P521P|MAG_uc002nyz.2_Silent_p.P546P	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	546					blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	p.S545R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CAGAGAGCCCCAGCTTCTCGG	0.607													11	1					0	0	1	0	0	T	35802842	C	T	35802842	2	4	26	1	0	0	0	0	0	0	0	1	9162	581	21	3		3	MAG	19	35802842	Silent	SNP	C	TCGA-DB-5279-01A-01D-1468-08	30214903	35802842	23326141	56	1074											
ZNF546	339327	broad.mit.edu	37	chr19	40520711	40520711	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttcagtagtcgctatcatCtcactcaacactacagaatt	12	12	4	13	1	4	1	4	0	1	1	6	1	4	1	1	0	2	2	1	0	5	5			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr19:40520711C>G	uc002oms.2	+	6	1790	c.1534C>G	c.(1534-1536)Ctc>Gtc	p.L512V	ZNF546_uc002omt.2_Missense_Mutation_p.L486V	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	Homo sapiens zinc finger protein 546 (ZNF546), mRNA.	512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCGCTATCATCTCACTCAACA	0.403													41	16					0	0	1	0	0	G	40520711	C	G	40520711	3	3	26	1	0	0	0	0	1	0	0	0	17975	913	32	5	1552	5	ZNF546	19	40520711	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	4717869	40520711	18608272	57	1075											
SLC17A7	57030	broad.mit.edu	37	chr19	49933845	49933845	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtggccccataggagggCgggggtgcagggggtgcccc	4	6	21	10	1	0	0	0	0	0	0	0	1	0	1	4	7	2	1	4	7	1	1			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr19:49933845C>T	uc002pnp.3	-	11	1786	c.1614G>A	c.(1612-1614)ccG>ccA	p.P538P	SLC17A7_uc002pno.3_Silent_p.P200P	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 (SLC17A7), mRNA.	538	Pro-rich.				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CATAGGAGGGCGGGGGTGCAG	0.647													9	8					0	0	1	0	0	T	49933845	C	T	49933845	2	4	26	1	0	0	0	0	0	0	0	1	14422	755	27	1		1	SLC17A7	19	49933845	Silent	SNP	C	TCGA-DB-5279-01A-01D-1468-08	9413134	49933845	9195138	58	1076											
CYP24A1	1591	broad.mit.edu	37	chr20	52779339	52779339	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctggtgataaatgtcacAaaggaaatctgcactaggct	14	11	9	7	0	3	1	1	1	2	0	3	2	3	2	0	3	1	2	0	3	5	3			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr20:52779339A>T	uc002xwv.2	-	6	1305	c.907T>A	c.(907-909)Tgt>Agt	p.C303S	CYP24A1_uc002xwu.1_Missense_Mutation_p.C161S|CYP24A1_uc002xww.2_Missense_Mutation_p.C303S	NM_000782	NP_000773	Q07973	CP24A_HUMAN	Homo sapiens cytochrome P450, family 24, subfamily A, polypeptide 1 (CYP24A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	303					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TAAATGTCACAAAGGAAATCT	0.463													52	55					0	0	1	0	0	T	52779339	A	T	52779339	3	4	26	1	0	0	0	0	1	0	0	0	4154	130	5	5	657	5	CYP24A1	20	52779339	Missense_Mutation	SNP	A	TCGA-DB-5279-01A-01D-1468-08		52779339	10246181	59	1077											
STMN3	50861	broad.mit.edu	37	chr20	62272736	62272736	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttgttcctgcgcacctcGgccgcgtgcagctcctgcag	3	10	11	17	4	0	0	0	0	0	0	4	0	3	0	5	1	4	5	5	1	0	2			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr20:62272736G>A	uc002yfr.1	-	4	580	c.498C>T	c.(496-498)gcC>gcT	p.A166A	STMN3_uc021wgd.1_Non-coding_Transcript	NM_015894	NP_056978	Q9NZ72	STMN3_HUMAN	Homo sapiens stathmin-like 3 (STMN3), mRNA.	166					cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of Rac GTPase activity|regulation of cytoskeleton organization	cytoplasm	protein domain specific binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			TGCGCACCTCGGCCGCGTGCA	0.716													5	3					0	0	1	0	0	A	62272736	G	A	62272736	2	1	26	1	0	0	0	0	0	0	0	1	15309	1103	39	2		2	STMN3	20	62272736	Silent	SNP	G	TCGA-DB-5279-01A-01D-1468-08	9493397	62272736	752784	60	1078											
TPST2	8459	broad.mit.edu	37	chr22	26937282	26937282	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggcgcatggccagcacGcgcgggatgatgcgggtctc	5	6	17	13	5	1	1	0	1	1	0	2	2	1	2	2	4	2	2	2	4	0	0	rs146078388	byFrequency	TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr22:26937282G>A	uc003acw.3	-	2	656	c.315C>T	c.(313-315)cgC>cgT	p.R105R	TPST2_uc003acx.3_Silent_p.R105R|TPST2_uc011akf.1_Silent_p.R105R	NM_001008566	NP_003586	O60704	TPST2_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 2 (TPST2), transcript variant 1, mRNA.	105					peptidyl-tyrosine sulfation	Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						TGGCCAGCACGCGCGGGATGA	0.706													7	25					0	0	1	0	0	A	26937282	G	A	26937282	2	1	26	1	0	0	0	0	0	0	0	1	16425	1074	38	1		1	TPST2	22	26937282	Silent	SNP	G	TCGA-DB-5279-01A-01D-1468-08		26937282	24367284	61	1079											
MICALL1	85377	broad.mit.edu	37	chr22	38323452	38323452	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctctcgcactcggagccGccctcggccacaccatcgcc	5	5	9	22	6	1	0	0	0	1	0	5	1	1	1	6	2	1	1	6	2	0	0			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr22:38323452G>A	uc003aui.3	+	8	1775	c.1500G>A	c.(1498-1500)ccG>ccA	p.P500P		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	Homo sapiens MICAL-like 1 (MICALL1), mRNA.	500	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					ACTCGGAGCCGCCCTCGGCCA	0.687													11	15					0	0	1	0	0	A	38323452	G	A	38323452	2	1	26	1	0	0	0	0	0	0	0	1	9573	1074	38	1		1	MICALL1	22	38323452	Silent	SNP	G	TCGA-DB-5279-01A-01D-1468-08	11386170	38323452	12981114	62	1080											
MAGEC1	9947	broad.mit.edu	37	chrX	140995929	140995929	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactggatgaaaaggtggaCgagttggcgcggtttcttct	9	11	14	7	3	2	1	0	1	2	0	2	4	2	3	0	5	0	2	0	5	2	3			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chrX:140995929C>T	uc004fbt.3	+	3	3063	c.2739C>T	c.(2737-2739)gaC>gaT	p.D913D	MAGEC1_uc010nsl.2_5'UTR|MAGEC1_uc022cfi.1_Silent_p.D572D	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	913	MAGE.						protein binding	p.V912L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AAAAGGTGGACGAGTTGGCGC	0.488										HNSCC(15;0.026)			12	182					0	0	1	0	0	T	140995929	C	T	140995929	2	4	26	1	0	0	0	0	0	0	0	1	9180	535	19	1		1	MAGEC1	23	140995929	Silent	SNP	C	TCGA-DB-5279-01A-01D-1468-08		140995929	14274631	63	1081											
MYOM3	127294	broad.mit.edu	37	chr1	24419503	24419503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcacccggaccatgtagaGcccctcgtcctccttgtagg	6	8	12	15	2	0	1	0	0	0	1	3	2	2	2	6	3	1	3	6	3	2	3			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr1:24419503G>A	uc001bin.4	-	9	1187	c.1024C>T	c.(1024-1026)Ctc>Ttc	p.L342F	MYOM3_uc001bim.4_5'UTR|MYOM3_uc001bio.3_Missense_Mutation_p.L342F|MYOM3_uc001bip.1_5'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	342	Ig-like C2-type 2.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		ACCATGTAGAGCCCCTCGTCC	0.637													19	20					0	0	0.575678	0	0	A	24419503	G	A	24419503	3	1	27	1	0	0	0	0	1	0	0	0	10093	971	34	3	3401	3	MYOM3	1	24419503	Missense_Mutation	SNP	G	TCGA-DB-5280-01A-01D-1468-08		24419503	224831118	1	1082											
ZCCHC11	23318	broad.mit.edu	37	chr1	52889613	52889613	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatggactcgcattactcCgacacgtttcctcttggtgg	9	12	9	11	3	1	0	0	0	1	0	4	2	3	1	2	3	1	2	2	3	3	3			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr1:52889613C>T	uc001cty.2	-	29	5185	c.4932G>A	c.(4930-4932)tcG>tcA	p.S1644S	ZCCHC11_uc001ctx.2_Silent_p.S1643S	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA.	1643					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance	cytoplasm|nucleolus	RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CGCATTACTCCGACACGTTTC	0.507													16	19					0	0	0.539581	0	0	T	52889613	C	T	52889613	2	4	27	1	0	0	0	0	0	0	0	1	17577	639	23	2		2	ZCCHC11	1	52889613	Silent	SNP	C	TCGA-DB-5280-01A-01D-1468-08	28470110	52889613	196361008	2	1083											
LCE2C	353140	broad.mit.edu	37	chr1	152648675	152648675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgtggtcccagctctgggGgctgctgcagctctggggct	2	10	17	12	0	2	0	0	0	2	0	3	0	3	0	1	5	4	7	1	5	0	0			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr1:152648675G>A	uc021ozc.1	+	0	184	c.184G>A	c.(184-186)Ggc>Agc	p.G62S	LCE2C_uc001fah.3_Missense_Mutation_p.G62S	NM_178429	NP_848516	Q5TA81	LCE2C_HUMAN	Homo sapiens late cornified envelope 2C (LCE2C), mRNA.	62	Cys-rich.				keratinization			p.G61V(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCTCTGGGGGCTGCTGCAG	0.662													5	155					0	0	0.217242	0	0	A	152648675	G	A	152648675	3	1	27	1	0	0	0	0	1	0	0	0	8667	1232	43	3	186	3	LCE2C	1	152648675	Missense_Mutation	SNP	G	TCGA-DB-5280-01A-01D-1468-08	99759062	152648675	96601946	3	1084											
FCRL3	115352	broad.mit.edu	37	chr1	157665373	157665373	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggccctgggagccctgaagGtgaggacagggtgagatacc	9	5	18	9	0	0	3	0	3	0	1	0	6	0	5	3	5	2	0	3	5	2	1			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr1:157665373G>T	uc001fqz.4	-	7	1449	c.1157C>A	c.(1156-1158)aCc>aAc	p.T386N	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Missense_Mutation_p.T112N|FCRL3_uc001frb.3_Missense_Mutation_p.T386N|FCRL3_uc001frc.1_Missense_Mutation_p.T386N	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	386	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AGCCCTGAAGGTGAGGACAGG	0.557													24	47					3.28513e-13	3.76588e-13	0.667858	1	0	T	157665373	G	T	157665373	3	4	27	1	0	0	0	0	1	0	0	0	5796	1261	44	5	1079	5	FCRL3	1	157665373	Missense_Mutation	SNP	G	TCGA-DB-5280-01A-01D-1468-08	5016698	157665373	91585248	4	1085											
FMO1	2326	broad.mit.edu	37	chr1	171254528	171254528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgactggcccaggaaaatggGaaggagccagaaatgccatc	14	5	13	9	0	0	2	0	1	0	1	1	5	0	5	3	4	2	0	3	4	4	0			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr1:171254528G>A	uc009wvz.3	+	8	1580	c.1444G>A	c.(1444-1446)Gaa>Aaa	p.E482K	FMO1_uc010pme.2_Missense_Mutation_p.E419K|FMO1_uc001ghl.3_Missense_Mutation_p.E482K|FMO1_uc001ghm.3_Missense_Mutation_p.E482K	NM_002021	NP_002012	Q01740	FMO1_HUMAN	Homo sapiens flavin containing monooxygenase 1 (FMO1), mRNA.	482					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGGAAAATGGGAAGGAGCCAG	0.502													41	69					0	0	0.840704	0	0	A	171254528	G	A	171254528	3	1	27	1	0	0	0	0	1	0	0	0	5954	1175	41	3	1474	3	FMO1	1	171254528	Missense_Mutation	SNP	G	TCGA-DB-5280-01A-01D-1468-08	13589155	171254528	77996093	5	1086											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								40	66					0	0	0.859065	0	0	T	209113112	C	T	209113112	3	4	27	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-5280-01A-01D-1468-08		209113112	34086261	6	1087											
FAM124B	79843	broad.mit.edu	37	chr2	225266432	225266432	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaagggagccgtgcccAgagttggcaagaagatggac	12	5	16	8	1	0	4	0	0	0	4	0	6	0	6	2	3	3	3	2	3	3	1			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr2:225266432A>G	uc002vnx.3	-	0	280	c.54T>C	c.(52-54)tcT>tcC	p.S18S	FAM124B_uc002vnw.3_Silent_p.S18S	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN	Homo sapiens family with sequence similarity 124B (FAM124B), transcript variant 1, mRNA.	18							protein binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		AGCCGTGCCCAGAGTTGGCAA	0.582													4	75					0	0	0.150653	0	0	G	225266432	A	G	225266432	2	3	27	1	0	0	0	0	0	0	0	1	5426	175	7	4		4	FAM124B	2	225266432	Silent	SNP	A	TCGA-DB-5280-01A-01D-1468-08	16153320	225266432	17932941	7	1088											
IL17RC	84818	broad.mit.edu	37	chr3	9959040	9959040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgtccttggcactgggccGaagcccagtggtcctttctc	4	11	12	14	1	1	0	0	0	1	0	4	1	3	0	4	3	1	2	4	3	1	2	rs112532783	byFrequency	TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr3:9959040G>A	uc003bua.3	+	0	259	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	CIDEC_uc003bto.3_Intron|IL17RC_uc010hcr.3_Non-coding_Transcript|IL17RC_uc011ato.2_Non-coding_Transcript|IL17RC_uc010hcs.3_Missense_Mutation_p.R14Q|IL17RC_uc003btz.3_Missense_Mutation_p.R14Q|IL17RC_uc011atp.2_5'UTR|IL17RC_uc003bud.3_5'UTR|IL17RC_uc010hct.3_Missense_Mutation_p.R14Q|IL17RC_uc010hcu.3_Missense_Mutation_p.R14Q|IL17RC_uc003bub.3_Missense_Mutation_p.R14Q|IL17RC_uc010hcv.3_Missense_Mutation_p.R14Q|IL17RC_uc003buc.3_5'UTR|IL17RC_uc011atq.2_Missense_Mutation_p.R14Q	NM_153461	NP_703191	Q8NAC3	I17RC_HUMAN	Homo sapiens interleukin 17 receptor C (IL17RC), transcript variant 2, mRNA.	14						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCACTGGGCCGAAGCCCAGTG	0.657													5	73					0	0	0.248553	0	0	A	9959040	G	A	9959040	3	1	27	1	0	0	0	0	1	0	0	0	7641	1058	37	2	43	2	IL17RC	3	9959040	Missense_Mutation	SNP	G	TCGA-DB-5280-01A-01D-1468-08		9959040	188063390	8	1089											
IQCF1	132141	broad.mit.edu	37	chr3	51929062	51929062	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cggcacctccagtaagcctgGatgatgcgaacagcattgag	11	7	12	11	2	0	2	0	2	0	0	1	4	1	3	3	2	4	3	3	2	2	2			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr3:51929062G>A	uc003dbv.3	-	3	560	c.462C>T	c.(460-462)atC>atT	p.I154I	IQCF1_uc003dbq.4_Intron	NM_152397	NP_689610	Q8N6M8	IQCF1_HUMAN	Homo sapiens IQ motif containing F1 (IQCF1), mRNA.	154										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGTAAGCCTGGATGATGCGAA	0.607													10	280					0	0	0.38729	0	0	A	51929062	G	A	51929062	2	1	27	1	0	0	0	0	0	0	0	1	7807	1164	41	3		3	IQCF1	3	51929062	Silent	SNP	G	TCGA-DB-5280-01A-01D-1468-08	41970022	51929062	146093368	9	1090											
ADH1B	125	broad.mit.edu	37	chr4	100235204	100235204	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagataggccgacccctcccAggccaaacacagcacaggta	13	3	9	16	1	0	1	0	0	0	1	1	2	1	1	5	3	2	2	5	3	3	2			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr4:100235204A>T	uc003hus.4	-	5	686	c.602T>A	c.(601-603)cTg>cAg	p.L201Q	ADH1B_uc003hut.4_Missense_Mutation_p.L161Q|ADH1B_uc011ceh.2_Missense_Mutation_p.L46Q|ADH1B_uc011cei.1_Missense_Mutation_p.L161Q	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	201					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	p.G200G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GACCCCTCCCAGGCCAAACAC	0.463													13	364					0	0	0.411799	0	0	T	100235204	A	T	100235204	3	4	27	1	0	0	0	0	1	0	0	0	308	188	7	5	541	5	ADH1B	4	100235204	Missense_Mutation	SNP	A	TCGA-DB-5280-01A-01D-1468-08		100235204	90919072	10	1091											
MYO10	4651	broad.mit.edu	37	chr5	16694555	16694555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtacatcagcttggactggCggaggacaaaccagcgcttc	11	7	12	11	2	1	0	1	0	0	0	2	3	1	3	1	4	4	3	1	4	2	3			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr5:16694555C>T	uc003jft.4	-	26	4193	c.3725G>A	c.(3724-3726)cGc>cAc	p.R1242H	MYO10_uc011cnc.2_Missense_Mutation_p.R121H|MYO10_uc011cnd.2_Missense_Mutation_p.R599H|MYO10_uc011cne.2_Missense_Mutation_p.R599H|MYO10_uc010itx.3_Missense_Mutation_p.R865H	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1242	PH 1.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CTTGGACTGGCGGAGGACAAA	0.567													24	186					0	0	0.681144	0	0	T	16694555	C	T	16694555	3	4	27	1	0	0	0	0	1	0	0	0	10062	768	27	1	2511	1	MYO10	5	16694555	Missense_Mutation	SNP	C	TCGA-DB-5280-01A-01D-1468-08		16694555	164220705	11	1092											
VNN1	8876	broad.mit.edu	37	chr6	133015129	133015129	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttgcaaattaattttacCttatggtagcgtgccaccag	11	15	7	8	1	0	0	0	0	0	0	0	0	0	0	3	1	4	2	3	1	6	7			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr6:133015129C>G	uc003qdo.3	-	3	554	c.534_splice	c.e3+1	p.K178_splice		NM_004666	NP_004657	O95497	VNN1_HUMAN	Homo sapiens vanin 1 (VNN1), mRNA.	178	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		TTAATTTTACCTTATGGTAGC	0.373													4	85					0	0	0.184627	0	0	G	133015129	C	G	133015129	5	3	27	1	0	0	0	0	0	0	1	0	17179	695	24	5	1027	5	VNN1	6	133015129	Splice_Site	SNP	C	TCGA-DB-5280-01A-01D-1468-08		133015129	38099938	12	1093											
FOXP2	93986	broad.mit.edu	37	chr7	114269949	114269949	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacagcagcagcagcaacaAcagcagcaacaacagcagca	19	0	8	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	8	0	0	5	0			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr7:114269949A>G	uc003vhb.3	+	4	860	c.486A>G	c.(484-486)caA>caG	p.Q162Q	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Silent_p.Q187Q|FOXP2_uc003vha.3_Silent_p.Q70Q|FOXP2_uc011kmv.2_Silent_p.Q162Q|FOXP2_uc011kmu.2_Silent_p.Q179Q|FOXP2_uc010ljz.2_Silent_p.Q70Q|FOXP2_uc003vgt.2_Non-coding_Transcript|FOXP2_uc003vgv.1_Silent_p.Q162Q|FOXP2_uc003vgx.2_Silent_p.Q162Q|FOXP2_uc003vhc.3_Silent_p.Q187Q|FOXP2_uc003vhd.3_Silent_p.Q162Q	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	162	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcaacaacagcagcaac	0.488													2	7					0	0	0.248553	0	0	G	114269949	A	G	114269949	2	3	27	1	0	0	0	0	0	0	0	1	6027	40	2	3		3	FOXP2	7	114269949	Silent	SNP	A	TCGA-DB-5280-01A-01D-1468-08		114269949	44868714	13	1094											
LINGO2	158038	broad.mit.edu	37	chr9	27950110	27950110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggtactgctgttaagttgCatttctccagggtgagctgc	6	15	12	8	0	1	1	0	1	1	0	2	1	1	1	1	2	5	6	1	2	2	5			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr9:27950110C>T	uc003zqv.1	-	6	1210	c.560G>A	c.(559-561)tGc>tAc	p.C187Y	LINGO2_uc010mjf.1_Missense_Mutation_p.C187Y|LINGO2_uc003zqu.1_Missense_Mutation_p.C187Y|LINGO2_uc022bfc.1_Missense_Mutation_p.C187Y	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	187						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TGTTAAGTTGCATTTCTCCAG	0.483													45	65					0	0	0.840704	0	0	T	27950110	C	T	27950110	3	4	27	1	0	0	0	0	1	0	0	0	8815	710	25	3	1264	3	LINGO2	9	27950110	Missense_Mutation	SNP	C	TCGA-DB-5280-01A-01D-1468-08		27950110	113263321	14	1095											
CASP1	834	broad.mit.edu	37	chr11	104915359	104915359	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccatggaatggataaacaGctttctcttctccttcagga	11	12	7	11	0	3	0	1	0	2	0	5	3	3	3	2	3	2	1	2	3	3	4			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr11:104915359G>A	uc001pip.1	-	1	61	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L	CASP1_uc021qpt.1_Intron|CASP1_uc010rve.2_Intron|CASP1_uc010rvf.2_Intron|CASP1_uc010rvg.2_Intron|CASP1_uc010rvh.2_Intron|CASP1_uc010rvi.2_Intron|CASP1_uc001pio.1_Silent_p.L12L	NM_001017534	NP_001017534	P29466	CASP1_HUMAN	Homo sapiens caspase recruitment domain family, member 16 (CARD16), transcript variant 1, mRNA.	12	CARD.				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	TGGATAAACAGCTTTCTCTTC	0.418													23	389					0	0	0.693898	0	0	A	104915359	G	A	104915359	2	1	27	1	0	0	0	0	0	0	0	1	2668	962	34	3		3	CASP1	11	104915359	Silent	SNP	G	TCGA-DB-5280-01A-01D-1468-08		104915359	30091157	15	1096											
FAM186B	84070	broad.mit.edu	37	chr12	49992644	49992644	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagactctgcaggcggtcaAtgttttccaggaagatgtag	10	11	13	7	1	2	2	1	1	1	2	3	4	3	3	1	3	1	3	1	3	3	3	rs140386687	byFrequency	TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr12:49992644A>G	uc001ruo.3	-	4	2431	c.2258T>C	c.(2257-2259)aTt>aCt	p.I753T	FAM186B_uc010smk.2_Missense_Mutation_p.I663T	NM_032130	NP_115506	Q8IYM0	F186B_HUMAN	Homo sapiens family with sequence similarity 186, member B (FAM186B), transcript variant 1, mRNA.	753						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAGGCGGTCAATGTTTTCCAG	0.537													66	78					0	0	0.870114	0	0	G	49992644	A	G	49992644	3	3	27	1	0	0	0	0	1	0	0	0	5512	101	4	3	435	3	FAM186B	12	49992644	Missense_Mutation	SNP	A	TCGA-DB-5280-01A-01D-1468-08		49992644	83859251	16	1097											
VRK1	7443	broad.mit.edu	37	chr14	97321577	97321577	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataggtgtacttggtagattAtggccttgcttatcggtact	8	16	11	6	1	0	1	0	0	0	1	1	1	0	1	1	4	3	4	1	4	6	8			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr14:97321577A>G	uc001yft.3	+	7	699	c.593A>G	c.(592-594)tAt>tGt	p.Y198C		NM_003384	NP_003375	Q99986	VRK1_HUMAN	Homo sapiens vaccinia related kinase 1 (VRK1), mRNA.	198	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		TTGGTAGATTATGGCCTTGCT	0.393													78	106					0	0	0.870114	0	0	G	97321577	A	G	97321577	3	3	27	1	0	0	0	0	1	0	0	0	17216	449	16	3	619	3	VRK1	14	97321577	Missense_Mutation	SNP	A	TCGA-DB-5280-01A-01D-1468-08		97321577	10027963	17	1098											
TNFAIP2	7127	broad.mit.edu	37	chr14	103599762	103599762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccaactcagcaaggggCgcctggtcctcaagacggcc	9	6	11	15	2	3	1	3	0	0	1	5	1	5	1	4	4	2	1	4	4	3	0			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr14:103599762C>T	uc001ymm.1	+	8	1740	c.1609C>T	c.(1609-1611)Cgc>Tgc	p.R537C	TNFAIP2_uc010awo.1_Intron|TNFAIP2_uc010txz.1_Missense_Mutation_p.R206C|TNFAIP2_uc010tya.1_Missense_Mutation_p.R20C	NM_006291	NP_006282	Q03169	TNAP2_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 2 (TNFAIP2), mRNA.	537					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			CAGCAAGGGGCGCCTGGTCCT	0.622													40	53					0	0	0.870114	0	0	T	103599762	C	T	103599762	3	4	27	1	0	0	0	0	1	0	0	0	16270	768	27	1	1643	1	TNFAIP2	14	103599762	Missense_Mutation	SNP	C	TCGA-DB-5280-01A-01D-1468-08	6278185	103599762	3749778	18	1099											
CSNK1G1	53944	broad.mit.edu	37	chr15	64506110	64506110	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgccaagatgcgtgttgaTagacatatatcttgcagttc	10	15	9	7	1	1	3	0	1	1	2	2	3	1	3	1	0	3	3	1	0	4	7			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr15:64506110T>C	uc002anf.3	-	5	1138	c.658A>G	c.(658-660)Atc>Gtc	p.I220V	CSNK1G1_uc002ane.3_Non-coding_Transcript|CSNK1G1_uc002ang.1_Missense_Mutation_p.I220V|CSNK1G1_uc002anh.1_Missense_Mutation_p.I220V|CSNK1G1_uc002anj.3_Missense_Mutation_p.I202V	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN	Homo sapiens casein kinase 1, gamma 1 (CSNK1G1), mRNA.	220	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						TGCGTGTTGATAGACATATAT	0.383													8	218					0	0	0.27861	0	0	C	64506110	T	C	64506110	3	2	27	1	0	0	0	0	1	0	0	0	3954	1406	49	3	638	3	CSNK1G1	15	64506110	Missense_Mutation	SNP	T	TCGA-DB-5280-01A-01D-1468-08		64506110	38025282	19	1100											
TAT	6898	broad.mit.edu	37	chr16	71602180	71602180	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggatgaaattcgggtacTcaaagcactgcaaaaagaag	16	7	10	8	2	1	2	1	1	0	1	3	3	1	3	0	2	3	3	0	2	6	2			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr16:71602180T>C	uc002fap.2	-	11	1331	c.1232A>G	c.(1231-1233)gAg>gGg	p.E411G		NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	411					2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	ATTCGGGTACTCAAAGCACTG	0.502													3	58					0	0	0.150653	0	0	C	71602180	T	C	71602180	3	2	27	1	0	0	0	0	1	0	0	0	15587	1551	54	4	136	4	TAT	16	71602180	Missense_Mutation	SNP	T	TCGA-DB-5280-01A-01D-1468-08		71602180	18752573	20	1101											
CAMTA2	23125	broad.mit.edu	37	chr17	4876949	4876949	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaggtgcagaaggctcatgCcccggaaggggcttccatgg	8	6	15	12	1	1	1	1	0	0	1	2	2	2	2	4	6	2	3	4	6	2	1			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr17:4876949C>T	uc010cku.2	-	12	2613	c.2201G>A	c.(2200-2202)gGc>gAc	p.G734D	CAMTA2_uc002gag.2_Missense_Mutation_p.G710D|CAMTA2_uc002gah.2_Missense_Mutation_p.G711D|CAMTA2_uc002gai.2_Missense_Mutation_p.G713D|CAMTA2_uc010ckv.1_Missense_Mutation_p.G358D	NM_001171167	NP_001164638	O94983	CMTA2_HUMAN	Homo sapiens calmodulin binding transcription activator 2 (CAMTA2), transcript variant 4, mRNA.	711					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AAGGCTCATGCCCCGGAAGGG	0.647													4	68					0	0	0.150653	0	0	T	4876949	C	T	4876949	3	4	27	1	0	0	0	0	1	0	0	0	2614	739	26	3	1570	3	CAMTA2	17	4876949	Missense_Mutation	SNP	C	TCGA-DB-5280-01A-01D-1468-08		4876949	76318261	21	1102											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr17:7577120C>T	uc002gim.2	-	7	1012	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			30	31					0	0	0.729181	0	0	T	7577120	C	T	7577120	3	4	27	1	0	0	0	0	1	0	0	0	16378	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-DB-5280-01A-01D-1468-08	2700171	7577120	73618090	22	1103											
TP53	7157	broad.mit.edu	37	chr17	7578466	7578466	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggccatggcgcggacgcggGtgccgggcgggggtgtggaa	4	5	23	9	6	0	0	0	0	0	0	0	2	0	2	2	8	1	0	2	8	1	0			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr17:7578466G>T	uc002gim.2	-	4	658	c.464C>A	c.(463-465)aCc>aAc	p.T155N	TP53_uc002gig.1_Missense_Mutation_p.T155N|TP53_uc002gih.3_Missense_Mutation_p.T155N|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.T23N|TP53_uc010cnf.1_Missense_Mutation_p.T23N|TP53_uc002gii.1_Missense_Mutation_p.T23N|TP53_uc010cni.1_Missense_Mutation_p.T155N|TP53_uc010cnh.1_Missense_Mutation_p.T155N|TP53_uc002gij.2_Missense_Mutation_p.T155N|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.T62N|TP53_uc002gio.2_Missense_Mutation_p.T23N|TP53_uc010vug.2_Missense_Mutation_p.T116N	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	155	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.T155N(42)|p.G154V(41)|p.T155I(26)|p.T155P(16)|p.G154G(12)|p.G154S(9)|p.T155A(8)|p.0?(8)|p.G154D(6)|p.?(5)|p.T155T(5)|p.G154fs*14(4)|p.T155fs*23(4)|p.P152fs*14(4)|p.G154I(3)|p.G154fs*27(3)|p.T155S(3)|p.P151_V173del23(2)|p.G154fs*16(2)|p.G154_R156delGTR(2)|p.G154C(2)|p.T155fs*25(2)|p.D148_T155delDSTPPPGT(2)|p.P153fs*22(2)|p.T155_A161delTRVRAMA(2)|p.G154fs*22(2)|p.T155_R156delTR(2)|p.T155fs*26(1)|p.R156_A161del(1)|p.G154A(1)|p.D148fs*23(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.T23N(1)|p.T62N(1)|p.T62I(1)|p.T23I(1)|p.T155_R156insDSTPPPGT(1)|p.T155fs*15(1)|p.R156fs*25(1)|p.P153_G154insX(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)		GCGGACGCGGGTGCCGGGCGG	0.612		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)			49	44					5.57489e-27	6.5505e-27	0.870114	1	0	T	7578466	G	T	7578466	3	4	27	1	0	0	0	0	1	0	0	0	16378	1261	44	5	834	5	TP53	17	7578466	Missense_Mutation	SNP	G	TCGA-DB-5280-01A-01D-1468-08	1346	7578466	73616744	23	1104											
POTEC	388468	broad.mit.edu	37	chr18	14543057	14543057	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgcagcaggggaagcggTggtgaaaccacttgcccatc	9	7	13	12	1	0	1	0	1	0	0	1	2	0	2	3	4	5	2	3	4	2	2	rs9807633	by1000genomes	TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr18:14543057T>G	uc010dln.3	-	0	543	c.89A>C	c.(88-90)cAc>cCc	p.H30P	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	30			H -> P (in dbSNP:rs9807633).							NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GGGGAAGCGGTGGTGAAACCA	0.537													6	150					0	0	0.248553	0	0	G	14543057	T	G	14543057	3	3	27	1	0	0	0	0	1	0	0	0	12262	1696	59	5	1583	5	POTEC	18	14543057	Missense_Mutation	SNP	T	TCGA-DB-5280-01A-01D-1468-08		14543057	63534191	24	1105											
DSG4	147409	broad.mit.edu	37	chr18	28983444	28983444	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgatatcaatgattattgtCcaaacatttttcctgaaaga	14	15	5	7	0	1	4	1	3	0	1	3	4	3	4	2	0	1	0	2	0	5	5			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr18:28983444C>T	uc002kwr.2	+	10	1618	c.1483C>T	c.(1483-1485)Cca>Tca	p.P495S	DSG4_uc002kwq.2_Missense_Mutation_p.P495S	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	495	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGATTATTGTCCAAACATTTT	0.383													27	34					0	0	0.693898	0	0	T	28983444	C	T	28983444	3	4	27	1	0	0	0	0	1	0	0	0	4779	855	30	3	1525	3	DSG4	18	28983444	Missense_Mutation	SNP	C	TCGA-DB-5280-01A-01D-1468-08	14440387	28983444	49093804	25	1106											
NUMBL	9253	broad.mit.edu	37	chr19	41183289	41183289	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttttcgctccaggcaggcgGcaaaagcacagcccacagcg	10	5	12	14	3	0	0	0	0	0	0	2	0	1	0	2	3	3	5	2	3	2	2			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr19:41183289G>C	uc002oon.3	-	6	746	c.578C>G	c.(577-579)gCc>gGc	p.A193G	NUMBL_uc010xvq.2_Missense_Mutation_p.A152G|NUMBL_uc010xvr.2_Missense_Mutation_p.A152G|NUMBL_uc002ooo.3_Missense_Mutation_p.A193G	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	Homo sapiens numb homolog (Drosophila)-like (NUMBL), mRNA.	193	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			CAGGCAGGCGGCAAAAGCACA	0.697													17	23					0	0	0.575678	0	0	C	41183289	G	C	41183289	3	2	27	1	0	0	0	0	1	0	0	0	10752	1203	42	5	1267	5	NUMBL	19	41183289	Missense_Mutation	SNP	G	TCGA-DB-5280-01A-01D-1468-08		41183289	17945694	26	1107											
ITPKC	80271	broad.mit.edu	37	chr19	41223412	41223412	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccagcctccggacgcatctAgaatggagctggtcagagct	9	8	12	12	2	2	2	1	0	1	2	4	4	4	4	3	3	3	3	3	3	2	1			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr19:41223412A>C	uc002oot.3	+	0	405	c.372A>C	c.(370-372)ctA>ctC	p.L124L	ADCK4_uc002ooq.2_5'Flank|ADCK4_uc002oor.2_5'Flank|ADCK4_uc002oos.2_5'Flank	NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase C (ITPKC), mRNA.	124						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGACGCATCTAGAATGGAGCT	0.607													42	80					0	0	0.840704	0	0	C	41223412	A	C	41223412	2	2	27	1	0	0	0	0	0	0	0	1	7919	407	15	5		5	ITPKC	19	41223412	Silent	SNP	A	TCGA-DB-5280-01A-01D-1468-08	40123	41223412	17905571	27	1108											
LILRA1	11024	broad.mit.edu	37	chr19	55086405	55086405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgtgggccccgtgagccCgagtcgcaggtggtcgtaca	5	7	15	14	5	0	1	0	1	0	0	3	2	1	1	4	3	2	2	4	3	1	1	rs74454618		TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr19:55086405C>T	uc010ern.3	+	4	1029	c.560C>T	c.(559-561)cCg>cTg	p.P187L	LILRA1_uc002qgg.4_Missense_Mutation_p.P187L|LILRA1_uc002qgf.3_Missense_Mutation_p.P187L|LILRA1_uc010yfe.1_Missense_Mutation_p.P187L|LILRA1_uc010yff.1_Missense_Mutation_p.P175L|LILRA1_uc010ero.3_Missense_Mutation_p.P175L|LILRA1_uc010yfg.1_Missense_Mutation_p.P187L			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	189	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCCGTGAGCCCGAGTCGCAGG	0.587													99	109					0	0	0.870114	0	0	T	55086405	C	T	55086405	3	4	27	1	0	0	0	0	1	0	0	0	8784	652	23	2		2	LILRA1	19	55086405	Missense_Mutation	SNP	C	TCGA-DB-5280-01A-01D-1468-08	13862993	55086405	4042578	28	1109											
NLRP8	126205	broad.mit.edu	37	chr19	56466833	56466833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcacaggaaatgggtgttagGtaaagaagatcttgaggaag	15	8	15	3	0	1	3	0	1	1	2	1	5	1	5	0	4	0	3	0	4	6	3			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr19:56466833G>A	uc002qmh.3	+	2	1480	c.1409G>A	c.(1408-1410)gGt>gAt	p.G470D	NLRP8_uc010etg.3_Missense_Mutation_p.G470D	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	470	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGGGTGTTAGGTAAAGAAGAT	0.502													7	182					0	0	0.248553	0	0	A	56466833	G	A	56466833	3	1	27	1	0	0	0	0	1	0	0	0	10483	1261	44	3	1419	3	NLRP8	19	56466833	Missense_Mutation	SNP	G	TCGA-DB-5280-01A-01D-1468-08	1380428	56466833	2662150	29	1110											
CST8	10047	broad.mit.edu	37	chr20	23472506	23472506	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggacaagtatgtcttcctgGtggtcaagacactgcaagcc	11	9	11	10	0	2	1	1	0	1	1	3	2	3	2	2	3	2	2	2	3	4	2			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr20:23472506G>C	uc002wth.1	+	1	559	c.202G>C	c.(202-204)Gtg>Ctg	p.V68L		NM_005492	NP_005483	O60676	CST8_HUMAN	Homo sapiens cystatin 8 (cystatin-related epididymal specific) (CST8), mRNA.	68						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TGTCTTCCTGGTGGTCAAGAC	0.468													6	114					0	0	0.217242	0	0	C	23472506	G	C	23472506	3	2	27	1	0	0	0	0	1	0	0	0	3978	1261	44	5	204	5	CST8	20	23472506	Missense_Mutation	SNP	G	TCGA-DB-5280-01A-01D-1468-08		23472506	39553014	30	1111											
ATRX	546	broad.mit.edu	37	chrX	76938749	76938765	+	Frame_Shift_Del	DEL	GTCGCCTCAAGGGTGTA	GTCGCCTCAAGGGTGTA	-																															tacagggttagtttctgtcgGtcgcctcaagggtgtagtct																										TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chrX:76938749_76938765delGTCGCCTCAAGGGTGTA	uc004ecp.4	-	8	2215_2231	c.1983_1999delTACACCCTTGAGGCGAC	c.(1981-2001)actacacccttgaggcgaccgfs	p.T661fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.T623fs|ATRX_uc004eco.4_Frame_Shift_Del_p.T446fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.T593fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.T632fs|ATRX_uc010nly.1_Frame_Shift_Del_p.T606fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	661					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GTTTCTGTCGGTCGCCTCAAGGGTGTAGTCTTTACAC	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						90	92	---	---	---	---						-	76938765	GTCGCCTCAAGGGTGTA	-	76938749	7	5	27	1	0	1	0	1	0	0	0	0	1208	1261	44	0	5587	0	ATRX	23	76938749	Frame_Shift_Del	DEL	GTCGCCTCAAGGGTGTA	TCGA-DB-5280-01A-01D-1468-08		76938749	78331811	31	1112											
DACH2	117154	broad.mit.edu	37	chrX	85994757	85994758	+	Frame_Shift_Ins	INS	-	-	C																															cttttgtgtcaggagcggatINScccagagagtccttctcctg																										TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chrX:85994757_85994758insC	uc004eew.2	+	6	1282_1283	c.1112_1113insC	c.(1111-1113)atcfs	p.I371fs	DACH2_uc004eex.2_Frame_Shift_Ins_p.I358fs|DACH2_uc010nmq.2_Frame_Shift_Ins_p.I237fs|DACH2_uc011mra.1_Frame_Shift_Ins_p.I204fs|DACH2_uc010nmr.2_Frame_Shift_Ins_p.I152fs|DACH2_uc004eey.3_Frame_Shift_Ins_p.I54fs|DACH2_uc004eez.3_Frame_Shift_Ins_p.I54fs	NM_053281	NP_001132987	Q96NX9	DACH2_HUMAN	Homo sapiens dachshund homolog 2 (Drosophila) (DACH2), transcript variant 1, mRNA.	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.R370W(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CAGGAGCGGATCCCAGAGAGTC	0.485													2	4	---	---	---	---						C	85994758	-	C	85994757	7	5	27	1	0	1	1	0	0	0	0	0	4221	1435	50	0	1138	0	DACH2	23	85994757	Frame_Shift_Ins	INS	-	TCGA-DB-5280-01A-01D-1468-08	9056008	85994757	69275803	32	1113											
TFDP3	51270	broad.mit.edu	37	chrX	132351780	132351780	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatattcatggccatcagcaCgtttaaggcatcgtaggtgc	10	11	11	9	2	2	0	2	0	0	0	3	1	2	0	1	3	2	4	1	3	3	5			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chrX:132351780C>A	uc004exb.1	-	0	597	c.508G>T	c.(508-510)Gtg>Ttg	p.V170L		NM_016521	NP_057605	Q5H9I0	TFDP3_HUMAN	Homo sapiens transcription factor Dp family, member 3 (TFDP3), mRNA.	170						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					GCCATCAGCACGTTTAAGGCA	0.502													3	53					0.115264	0.123123	0.115264	1	0	A	132351780	C	A	132351780	3	1	27	1	0	0	0	0	1	0	0	0	15796	536	19	5	713	5	TFDP3	23	132351780	Missense_Mutation	SNP	C	TCGA-DB-5280-01A-01D-1468-08	46357023	132351780	22918780	33	1114											
MAGEA12	4111	broad.mit.edu	37	chrX	151896589	151896589	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggtgggtggttgttggaCaatgggctggaggctcgtgg	4	12	21	4	1	0	0	0	0	0	0	1	2	0	2	0	8	0	5	0	8	1	3			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chrX:151896589C>A	uc004fgb.3	-	2		c.400G>T						P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.									p.L11F(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGTTGTTGGACAATGGGCTGG	0.557													5	108					0.00116845	0.00127714	0.217242	1	0	A	151896589	C	A	151896589	1	1	27	0	1	0	0	0	0	0	0	0	9166	493	17	5		5	MAGEA12	23	151896589	RNA	SNP	C	TCGA-DB-5280-01A-01D-1468-08	19544809	151896589	3373971	34	1115											
CHD5	26038	broad.mit.edu	37	chr1	6186737	6186737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgctcatagtggtgccGcagcagcttctcccagtagt	6	11	11	13	1	2	0	1	0	1	0	3	0	2	0	2	1	5	6	2	1	2	3			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr1:6186737G>A	uc001amb.2	-	25	4084	c.3973C>T	c.(3973-3975)Cgg>Tgg	p.R1325W	CHD5_uc001alz.2_Missense_Mutation_p.R182W|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1325					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	p.L1324fs*78(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TAGTGGTGCCGCAGCAGCTTC	0.627													15	57					0	0	1	0	0	A	6186737	G	A	6186737	3	1	28	1	0	0	0	0	1	0	0	0	3328	1086	38	1	1955	1	CHD5	1	6186737	Missense_Mutation	SNP	G	TCGA-DB-5281-01A-01D-1468-08		6186737	243063884	1	1116											
TESK2	10420	broad.mit.edu	37	chr1	45887455	45887455	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacttctttcagcatgtttgCccggttactgctcaatgtgt	6	17	8	10	1	3	0	2	0	1	0	3	0	3	0	1	1	5	4	1	1	3	5			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr1:45887455C>T	uc001cns.1	-	2	689	c.286G>A	c.(286-288)Gca>Aca	p.A96T	TESK2_uc009vxr.1_Missense_Mutation_p.A96T|TESK2_uc010olo.1_Missense_Mutation_p.A13T|TESK2_uc009vxs.1_5'UTR|TESK2_uc010olp.1_Missense_Mutation_p.A96T	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	Homo sapiens testis-specific kinase 2 (TESK2), mRNA.	96	Protein kinase.				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					AGCATGTTTGCCCGGTTACTG	0.423													71	95					0	0	1	0	0	T	45887455	C	T	45887455	3	4	28	1	0	0	0	0	1	0	0	0	15765	739	26	3	1465	3	TESK2	1	45887455	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08	39700718	45887455	203363166	2	1117											
EFEMP1	2202	broad.mit.edu	37	chr2	56145171	56145171	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaagcgtctgggacaatgTcacattcatcaatatctgtg	12	12	8	9	1	5	0	3	0	2	0	5	1	5	1	0	1	2	0	0	1	5	3	rs55849640	byFrequency	TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr2:56145171T>C	uc002rzi.3	-	4	647	c.146A>G	c.(145-147)gAc>gGc	p.D49G	EFEMP1_uc002rzj.3_Missense_Mutation_p.D49G|EFEMP1_uc010ypc.2_5'UTR	NM_001039348	NP_001034438	Q12805	FBLN3_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA.	49	EGF-like 1; atypical.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGGGACAATGTCACATTCATC	0.373													32	76					0	0	1	0	0	C	56145171	T	C	56145171	3	2	28	1	0	0	0	0	1	0	0	0	4941	1667	58	3	1367	3	EFEMP1	2	56145171	Missense_Mutation	SNP	T	TCGA-DB-5281-01A-01D-1468-08		56145171	187054202	3	1118											
DCTN1	1639	broad.mit.edu	37	chr2	74595916	74595916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcatggtccccacctggcCgaaggaagctgtcaggcatg	9	7	13	12	1	2	0	2	0	0	0	3	2	3	1	4	4	1	2	4	4	2	0			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr2:74595916C>T	uc002skx.3	-	15	2111	c.1793G>A	c.(1792-1794)cGg>cAg	p.R598Q	DCTN1_uc002skv.3_Missense_Mutation_p.R464Q|DCTN1_uc002sku.3_Missense_Mutation_p.R464Q|DCTN1_uc002skw.2_Missense_Mutation_p.R591Q|DCTN1_uc010ffd.3_Missense_Mutation_p.R578Q|DCTN1_uc002sky.3_Missense_Mutation_p.R561Q	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	598					G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCCACCTGGCCGAAGGAAGCT	0.532													17	103					0	0	1	0	0	T	74595916	C	T	74595916	3	4	28	1	0	0	0	0	1	0	0	0	4306	652	23	2	2111	2	DCTN1	2	74595916	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08	18450745	74595916	168603457	4	1119											
VWA3B	200403	broad.mit.edu	37	chr2	98928738	98928738	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcattgccacacctccacctCgagcagccctgccctgtact	7	9	6	19	1	1	0	1	0	0	0	3	1	2	0	6	0	5	2	6	0	1	2			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr2:98928738C>T	uc002syo.3	+	27	4075	c.3811C>T	c.(3811-3813)Cga>Tga	p.R1271*	VWA3B_uc002syr.1_3'UTR|VWA3B_uc002sys.3_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	1271										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ACCTCCACCTCGAGCAGCCCT	0.607													21	76					0	0	1	0	0	T	98928738	C	T	98928738	4	4	28	1	0	0	0	0	0	1	0	0	17238	876	31	2	3917	2	VWA3B	2	98928738	Nonsense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08	24332822	98928738	144270635	5	1120											
R3HDM1	23518	broad.mit.edu	37	chr2	136389572	136389575	+	Splice_Site	DEL	GTAA	GTAA	-																															aaaactagcaatacaagaatGtaagtgtcaagagatgtaac																										TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr2:136389572_136389575delGTAA	uc002tuo.3	+	9	1068	c.698_splice	c.e9+1	p.I233_splice	R3HDM1_uc010fni.3_Splice_Site_p.I231_splice|R3HDM1_uc002tup.3_Splice_Site_p.I177_splice|R3HDM1_uc010zbh.2_Splice_Site_p.I65_splice	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	Homo sapiens R3H domain containing 1 (R3HDM1), mRNA.	233							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		ATACAAGAATGTAAGTGTCAAGAG	0.324													29	106	---	---	---	---						-	136389575	GTAA	-	136389572	8	5	28	1	0	1	0	1	0	0	1	0	12887	1391	48	0	725	0	R3HDM1	2	136389572	Splice_Site	DEL	GTAA	TCGA-DB-5281-01A-01D-1468-08	37460834	136389572	106809801	6	1121											
SCN3A	6328	broad.mit.edu	37	chr2	165970378	165970378	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caatgaaagtctcaaaccagTtgtgctcaacaatactgtag	15	10	7	9	0	2	1	2	1	1	0	3	1	2	1	1	0	4	3	1	0	7	3			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr2:165970378T>C	uc002ucx.3	-	19	4109	c.3617A>G	c.(3616-3618)aAc>aGc	p.N1206S	SCN3A_uc002ucy.3_Missense_Mutation_p.N1157S|SCN3A_uc002ucz.3_Missense_Mutation_p.N1157S|SCN3A_uc002uda.1_Missense_Mutation_p.N1026S|SCN3A_uc002udb.1_Missense_Mutation_p.N1026S	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1206						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CTCAAACCAGTTGTGCTCAAC	0.378													40	135					0	0	1	0	0	C	165970378	T	C	165970378	3	2	28	1	0	0	0	0	1	0	0	0	13918	1725	60	3	2421	3	SCN3A	2	165970378	Missense_Mutation	SNP	T	TCGA-DB-5281-01A-01D-1468-08	29580806	165970378	77228995	7	1122											
KBTBD10	10324	broad.mit.edu	37	chr2	170374777	170374777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctccaatgaaaattcctcGttccatgtttggagtagcag	10	12	10	9	1	0	1	0	1	0	0	4	2	3	2	3	2	1	5	3	2	4	4			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr2:170374777G>A	uc002ueu.1	+	3	1531	c.1454G>A	c.(1453-1455)cGt>cAt	p.R485H	KBTBD10_uc010zdh.1_Missense_Mutation_p.R423H	NM_006063	NP_006054	O60662	KBTBA_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 10 (KBTBD10), mRNA.	485					striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|urinary_tract(1)	19						AAAATTCCTCGTTCCATGTTT	0.388													9	77					0	0	1	0	0	A	170374777	G	A	170374777	3	1	28	1	0	0	0	0	1	0	0	0	7990	1145	40	1	1468	1	KBTBD10	2	170374777	Missense_Mutation	SNP	G	TCGA-DB-5281-01A-01D-1468-08	4404399	170374777	72824596	8	1123											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								27	36					0	0	1	0	0	T	209113112	C	T	209113112	3	4	28	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08	38738335	209113112	34086261	9	1124											
C3orf18	51161	broad.mit.edu	37	chr3	50598380	50598380	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcctgcacagaagtagcagCctgtacagaggcggcgtccc	9	5	14	13	2	0	2	0	0	0	2	1	2	1	2	3	3	4	4	3	3	3	2			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr3:50598380C>A	uc003dar.3	-	4	957	c.376G>T	c.(376-378)Gct>Tct	p.A126S	C3orf18_uc010hlo.3_Missense_Mutation_p.A106S|C3orf18_uc003das.3_Missense_Mutation_p.A126S|C3orf18_uc011bdr.2_Non-coding_Transcript|C3orf18_uc010hlp.3_Intron|C3orf18_uc003dat.3_Missense_Mutation_p.A126S	NM_016210	NP_057294	Q9UK00	CC018_HUMAN	Homo sapiens chromosome 3 open reading frame 18 (C3orf18), transcript variant 1, mRNA.	126						integral to membrane				lung(1)|pancreas(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.0175)|Kidney(197;0.0207)		GAAGTAGCAGCCTGTACAGAG	0.637													24	56					3.28513e-13	3.42592e-13	1	1	0	A	50598380	C	A	50598380	3	1	28	1	0	0	0	0	1	0	0	0	2211	739	26	5	120	5	C3orf18	3	50598380	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08		50598380	147424050	10	1125											
ANKRD17	26057	broad.mit.edu	37	chr4	73957066	73957066	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaagaactgctgctgttTggaggtctagtgtttgttgt	7	15	13	6	0	1	2	0	0	1	2	1	3	1	3	1	2	3	5	1	2	3	4			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr4:73957066T>A	uc003hgp.3	-	28	6396	c.6279A>T	c.(6277-6279)ccA>ccT	p.P2093P	ANKRD17_uc003hgo.3_Silent_p.P1980P|ANKRD17_uc003hgq.3_Silent_p.P1842P|ANKRD17_uc003hgr.3_Silent_p.P2092P	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	2093	Ser-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCTGCTGTTTGGAGGTCTAG	0.473													48	141					0	0	1	0	0	A	73957066	T	A	73957066	2	1	28	1	0	0	0	0	0	0	0	1	646	1799	63	5		5	ANKRD17	4	73957066	Silent	SNP	T	TCGA-DB-5281-01A-01D-1468-08		73957066	117197210	11	1126											
SPOCK3	50859	broad.mit.edu	37	chr4	167810286	167810287	+	Frame_Shift_Del	DEL	TT	TT	-																															atttttgtcacttacctctcTtaacatttctgcttgtactg																										TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr4:167810286_167810287delTT	uc011cjq.1	-	4	676_677	c.619_620delAA	c.(619-621)aagfs	p.K207fs	SPOCK3_uc021xuf.1_Frame_Shift_Del_p.K198fs|SPOCK3_uc011cjr.1_Frame_Shift_Del_p.K78fs|SPOCK3_uc003iri.1_Frame_Shift_Del_p.K198fs|SPOCK3_uc011cjs.1_Frame_Shift_Del_p.K147fs|SPOCK3_uc003irj.1_Frame_Shift_Del_p.K195fs|SPOCK3_uc011cjt.1_Frame_Shift_Del_p.K106fs|SPOCK3_uc011cjp.2_Frame_Shift_Del_p.K195fs|SPOCK3_uc011cju.1_Frame_Shift_Del_p.K102fs|SPOCK3_uc011cjv.1_Frame_Shift_Del_p.K100fs|SPOCK3_uc003irk.4_Frame_Shift_Del_p.K195fs|SPOCK3_uc011cjw.1_Non-coding_Transcript	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	198					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CTTACCTCTCTTAACATTTCTG	0.337													33	80	---	---	---	---						-	167810287	TT	-	167810286	7	5	28	1	0	1	0	1	0	0	0	0	15080	1609	56	0	741	0	SPOCK3	4	167810286	Frame_Shift_Del	DEL	TT	TCGA-DB-5281-01A-01D-1468-08	93853220	167810286	23343990	12	1127											
PRDM9	56979	broad.mit.edu	37	chr5	23527687	23527687	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacacacacaggggagaaGccctatgtctgcagggagtg	12	5	15	9	0	1	1	0	0	1	1	1	4	1	3	1	4	2	1	1	4	2	1			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr5:23527687G>A	uc003jgo.3	+	10	2672	c.2490G>A	c.(2488-2490)aaG>aaA	p.K830K		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	830					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.E829*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CAGGGGAGAAGCCCTATGTCT	0.587										HNSCC(3;0.000094)			28	95					0	0	1	0	0	A	23527687	G	A	23527687	2	1	28	1	0	0	0	0	0	0	0	1	12463	962	34	3		3	PRDM9	5	23527687	Silent	SNP	G	TCGA-DB-5281-01A-01D-1468-08		23527687	157387573	13	1128											
FAM174A	345757	broad.mit.edu	37	chr5	99897847	99897847	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacctttagaacaggatgAtgaggatgatgacaacacgt	15	8	11	7	1	0	5	0	4	0	1	0	8	0	7	1	2	2	0	1	2	3	2			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr5:99897847A>T	uc003knj.1	+	1	635	c.524A>T	c.(523-525)gAt>gTt	p.D175V		NM_198507	NP_940909	Q8TBP5	F174A_HUMAN	Homo sapiens family with sequence similarity 174, member A (FAM174A), mRNA.	175						integral to membrane				breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GAACAGGATGATGAGGATGAT	0.383													29	61					0	0	1	0	0	T	99897847	A	T	99897847	3	4	28	1	0	0	0	0	1	0	0	0	5495	333	12	5	530	5	FAM174A	5	99897847	Missense_Mutation	SNP	A	TCGA-DB-5281-01A-01D-1468-08	76370160	99897847	81017413	14	1129											
GFPT2	9945	broad.mit.edu	37	chr5	179744060	179744061	+	Splice_Site	DEL	TG	TG	-																															ataaacgcactgaagttaccTggtcaaataaacgtctggtc																										TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr5:179744060_179744061delTG	uc003mlw.1	-	11	1057	c.959_splice	c.e11-1	p.G320_splice		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	320					UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TGAAGTTACCTGGTCAAATAAA	0.391													27	103	---	---	---	---						-	179744061	TG	-	179744060	8	5	28	1	0	1	0	1	0	0	1	0	6346	1594	55	0	1127	0	GFPT2	5	179744060	Splice_Site	DEL	TG	TCGA-DB-5281-01A-01D-1468-08	79846213	179744060	1171200	15	1130											
ZFP57	346171	broad.mit.edu	37	chr6	29641322	29641322	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaactggtggctatagaggTaggagcgcctgctgaaacat	12	8	13	8	1	0	2	0	1	0	1	0	3	0	3	1	4	4	3	1	4	5	3			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr6:29641322T>A	uc011dlw.2	-	3	717	c.566A>T	c.(565-567)tAc>tTc	p.Y189F		NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA.	105					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						GCTATAGAGGTAGGAGCGCCT	0.542													24	95					0	0	1	0	0	A	29641322	T	A	29641322	3	1	28	1	0	0	0	0	1	0	0	0	17648	1638	57	5	1048	5	ZFP57	6	29641322	Missense_Mutation	SNP	T	TCGA-DB-5281-01A-01D-1468-08		29641322	141473745	16	1131											
RSPH9	221421	broad.mit.edu	37	chr6	43612865	43612865	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacagcctcctgctgtctctGgagctggcgtccggcagtgg	4	9	15	13	2	1	0	0	0	1	0	4	2	3	1	3	4	3	3	3	4	0	0			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr6:43612865G>A	uc003ovx.2	+	0	99	c.30G>A	c.(28-30)ctG>ctA	p.L10L	RSPH9_uc003ovw.2_Silent_p.L10L	NM_001193341	NP_001180270	Q9H1X1	RSPH9_HUMAN	Homo sapiens radial spoke head 9 homolog (Chlamydomonas) (RSPH9), transcript variant 2, mRNA.	10					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TGCTGTCTCTGGAGCTGGCGT	0.657									Kartagener syndrome				7	53					0	0	1	0	0	A	43612865	G	A	43612865	2	1	28	1	0	0	0	0	0	0	0	1	13708	1335	47	3		3	RSPH9	6	43612865	Silent	SNP	G	TCGA-DB-5281-01A-01D-1468-08	13971543	43612865	127502202	17	1132											
GJA1	2697	broad.mit.edu	37	chr6	121769068	121769068	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattacagccactagccattGtggaccagcgaccttcaagc	12	8	8	13	1	1	0	1	0	0	0	1	2	1	1	4	1	5	0	4	1	4	4			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr6:121769068G>T	uc003pyr.3	+	1	1325	c.1075G>T	c.(1075-1077)Gtg>Ttg	p.V359L	GJA1_uc011ebo.1_Missense_Mutation_p.V260L|GJA1_uc011ebp.1_Missense_Mutation_p.V147L|GJA1_uc021zel.1_Missense_Mutation_p.V359L	NM_000165	NP_000156	P17302	CXA1_HUMAN	Homo sapiens gap junction protein, alpha 1, 43kDa (GJA1), mRNA.	359					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|connexon complex|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	ACTAGCCATTGTGGACCAGCG	0.493													29	119					4.65686e-17	4.92683e-17	1	1	0	T	121769068	G	T	121769068	3	4	28	1	0	0	0	0	1	0	0	0	6400	1377	48	5	1077	5	GJA1	6	121769068	Missense_Mutation	SNP	G	TCGA-DB-5281-01A-01D-1468-08	78156203	121769068	49345999	18	1133											
MAP7	9053	broad.mit.edu	37	chr6	136683671	136683671	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgcctcttctcagctagaagCcttgtggcctcctctgggtc	4	12	10	15	1	3	1	1	0	3	1	6	1	4	1	4	2	2	1	4	2	2	3			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr6:136683671C>A	uc011edg.2	-	10	1782	c.1533G>T	c.(1531-1533)agG>agT	p.R511S	MAP7_uc011edf.2_Missense_Mutation_p.R466S|MAP7_uc010kgu.3_Missense_Mutation_p.R503S|MAP7_uc011edh.2_Missense_Mutation_p.R466S|MAP7_uc010kgv.3_Missense_Mutation_p.R503S|MAP7_uc010kgs.3_Missense_Mutation_p.R335S|MAP7_uc011edi.2_Missense_Mutation_p.R335S|MAP7_uc010kgq.2_Missense_Mutation_p.R387S|MAP7_uc003qgz.3_Missense_Mutation_p.R481S|MAP7_uc003qha.2_Missense_Mutation_p.R444S	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN	Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.	481					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity	p.Q510H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CAGCTAGAAGCCTTGTGGCCT	0.567													17	57					3.51602e-12	3.61506e-12	1	1	0	A	136683671	C	A	136683671	3	1	28	1	0	0	0	0	1	0	0	0	9266	738	26	5	838	5	MAP7	6	136683671	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08	14914603	136683671	34431396	19	1134											
REPS1	85021	broad.mit.edu	37	chr6	139247539	139247539	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctaagtgattgacttacaGgatcagctggtgcaatgtta	12	12	11	6	0	1	2	1	2	0	0	1	3	1	3	0	2	4	4	0	2	4	4			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr6:139247539G>C	uc003qii.3	-	10	1917	c.1338_splice	c.e10+1	p.P446_splice	REPS1_uc003qig.4_Intron|REPS1_uc011edr.2_Splice_Site_p.P446_splice|REPS1_uc003qij.3_Intron|REPS1_uc003qik.3_Intron	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA.	446						coated pit|plasma membrane	SH3 domain binding|calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TTGACTTACAGGATCAGCTGG	0.393													12	12					0	0	1	0	0	C	139247539	G	C	139247539	5	2	28	1	0	0	0	0	0	0	1	0	13228	1014	35	5	1097	5	REPS1	6	139247539	Splice_Site	SNP	G	TCGA-DB-5281-01A-01D-1468-08	2563868	139247539	31867528	20	1135											
MLXIPL	51085	broad.mit.edu	37	chr7	73011230	73011230	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccggaggagggtgctggataCaagtggtggctccagggctt	7	8	18	8	1	0	0	0	0	0	0	1	3	1	3	2	7	2	3	2	7	2	2			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr7:73011230C>G	uc003tyn.1	-	9	1684	c.1636G>C	c.(1636-1638)Gta>Cta	p.V546L	MLXIPL_uc003tyj.1_5'UTR|MLXIPL_uc003tyk.1_Missense_Mutation_p.V546L|MLXIPL_uc003tym.1_Missense_Mutation_p.V546L|MLXIPL_uc003tyl.1_Missense_Mutation_p.V546L|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Missense_Mutation_p.V453L|MLXIPL_uc003tyq.1_Missense_Mutation_p.V288L	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	546					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.L545P(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GTGCTGGATACAAGTGGTGGC	0.672													2	23					0	0	1	0	0	G	73011230	C	G	73011230	3	3	28	1	0	0	0	0	1	0	0	0	9637	478	17	5	954	5	MLXIPL	7	73011230	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08		73011230	86127433	21	1136											
C8orf74	203076	broad.mit.edu	37	chr8	10557893	10557893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caacgcccccacccctatccCgccccccatcaccagccacg	8	3	4	26	3	1	0	1	0	0	0	2	0	2	0	10	0	2	0	10	0	2	1			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr8:10557893C>T	uc003wtd.1	+	3	826	c.797C>T	c.(796-798)cCg>cTg	p.P266L	C8orf74_uc003wte.1_Non-coding_Transcript	NM_001040032	NP_001035121	Q6P047	CH074_HUMAN	Homo sapiens chromosome 8 open reading frame 74 (C8orf74), mRNA.	266										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		ACCCCTATCCCGCCCCCCATC	0.587													19	19					0	0	1	0	0	T	10557893	C	T	10557893	3	4	28	1	0	0	0	0	1	0	0	0	2436	652	23	2	811	2	C8orf74	8	10557893	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08		10557893	135806129	22	1137											
TGFBR1	7046	broad.mit.edu	37	chr9	101907133	101907133	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgattcagccacagataccAttgatattgctccaaaccac	14	10	5	12	0	1	3	1	2	0	1	2	3	2	3	4	0	4	1	4	0	3	5			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr9:101907133A>G	uc004azc.3	+	5	1169	c.1093A>G	c.(1093-1095)Att>Gtt	p.I365V	TGFBR1_uc004azd.3_Missense_Mutation_p.I288V|TGFBR1_uc004aze.3_Missense_Mutation_p.I369V|TGFBR1_uc011lvc.2_Missense_Mutation_p.I296V	NM_004612	NP_004603	P36897	TGFR1_HUMAN	Homo sapiens transforming growth factor, beta receptor 1 (TGFBR1), transcript variant 1, mRNA.	365	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of SMAD protein import into nucleus|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				CACAGATACCATTGATATTGC	0.348													5	94					0	0	1	0	0	G	101907133	A	G	101907133	3	3	28	1	0	0	0	0	1	0	0	0	15818	217	8	3	1115	3	TGFBR1	9	101907133	Missense_Mutation	SNP	A	TCGA-DB-5281-01A-01D-1468-08		101907133	39306298	23	1138											
C9orf96	169436	broad.mit.edu	37	chr9	136256485	136256485	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccctccaacatcatcctcAtcagcagtgaccactgcaaa	14	7	4	16	0	3	1	3	1	0	0	5	1	5	1	4	0	4	2	4	0	3	0			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr9:136256485A>T	uc004cdk.3	+	6	557	c.496A>T	c.(496-498)Atc>Ttc	p.I166F	C9orf96_uc004cdl.3_Intron	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	Homo sapiens chromosome 9 open reading frame 96 (C9orf96), mRNA.	166	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CATCATCCTCATCAGCAGTGA	0.552													78	316					0	0	1	0	0	T	136256485	A	T	136256485	3	4	28	1	0	0	0	0	1	0	0	0	2508	217	8	5	522	5	C9orf96	9	136256485	Missense_Mutation	SNP	A	TCGA-DB-5281-01A-01D-1468-08	34349352	136256485	4956946	24	1139											
ADAMTS14	140766	broad.mit.edu	37	chr10	72493665	72493665	+	Frame_Shift_Del	DEL	G	G	-																															ggcatggagcatgacggtcaGgggaatggctgtgcagatga																										TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr10:72493665delG	uc001jrg.3	+	7	1242	c.1242delG	c.(1240-1242)cagfs	p.Q414fs	ADAMTS14_uc001jrh.3_Frame_Shift_Del_p.Q411fs|ADAMTS14_uc001jri.1_5'Flank	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	411	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G413C(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						ATGACGGTCAGGGGAATGGCT	0.652													19	93	---	---	---	---						-	72493665	G	-	72493665	7	5	28	1	0	1	0	1	0	0	0	0	259	991	35	0	1272	0	ADAMTS14	10	72493665	Frame_Shift_Del	DEL	G	TCGA-DB-5281-01A-01D-1468-08		72493665	63041082	25	1140											
GALNTL4	374378	broad.mit.edu	37	chr11	11470398	11470398	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggccacgcgccggccttcGgggctgagctcctggcccca	4	5	15	17	4	0	1	0	1	0	0	2	1	1	1	6	5	1	2	6	5	0	1			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr11:11470398G>T	uc001mjo.2	-	1	742	c.321C>A	c.(319-321)ccC>ccA	p.P107P		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA.	107						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		GCCGGCCTTCGGGGCTGAGCT	0.647													3	20					1	1	1	1	0	T	11470398	G	T	11470398	2	4	28	1	0	0	0	0	0	0	0	1	6223	1103	39	5		5	GALNTL4	11	11470398	Silent	SNP	G	TCGA-DB-5281-01A-01D-1468-08		11470398	123536118	26	1141											
CD44	960	broad.mit.edu	37	chr11	35231542	35231542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctcagagcttctctacatCacatgaaggcttggaagaag	12	11	9	9	0	3	3	2	1	2	2	5	4	3	4	0	2	2	2	0	2	4	4			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr11:35231542C>T	uc001mvu.3	+	12	1981	c.1547C>T	c.(1546-1548)tCa>tTa	p.S516L	CD44_uc021qfw.1_Intron|CD44_uc001mvv.3_Missense_Mutation_p.S473L|CD44_uc001mvw.3_Missense_Mutation_p.S267L|CD44_uc001mwc.4_Intron|CD44_uc001mvx.3_Intron|CD44_uc010rer.2_Intron|CD44_uc001mvy.3_Intron|CD44_uc009ykh.3_Intron|CD44_uc010reu.2_Missense_Mutation_p.S44L|CD44_uc010res.2_Missense_Mutation_p.S80L|CD44_uc010ret.2_Non-coding_Transcript	NM_000610	NP_000601	P16070	CD44_HUMAN	Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA.	516	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	Golgi apparatus|cell surface|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	TTCTCTACATCACATGAAGGC	0.388													34	135					0	0	1	0	0	T	35231542	C	T	35231542	3	4	28	1	0	0	0	0	1	0	0	0	3017	838	29	3	1597	3	CD44	11	35231542	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08	23761144	35231542	99774974	27	1142											
TMEM132A	54972	broad.mit.edu	37	chr11	60703701	60703701	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtaaacggcaggtggcAggcagtgtcgggggcaacac	9	5	19	8	2	0	0	0	0	0	0	1	0	0	0	0	8	2	5	0	8	3	1			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr11:60703701A>T	uc001nqi.3	+	10	2590	c.2397A>T	c.(2395-2397)gcA>gcT	p.A799A	TMEM132A_uc001nqj.3_Silent_p.A798A	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	798	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).					Golgi membrane|endoplasmic reticulum membrane|integral to membrane		p.V798G(1)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GGCAGGTGGCAGGCAGTGTCG	0.662													11	60					0	0	1	0	0	T	60703701	A	T	60703701	2	4	28	1	0	0	0	0	0	0	0	1	16042	175	7	5		5	TMEM132A	11	60703701	Silent	SNP	A	TCGA-DB-5281-01A-01D-1468-08	25472159	60703701	74302815	28	1143											
MTL5	9633	broad.mit.edu	37	chr11	68480850	68480850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccaatttttggctggaaaGcttctggatttctaccaaga	10	14	8	9	0	2	1	0	0	2	1	3	3	3	3	2	3	2	2	2	3	4	5			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr11:68480850G>A	uc001ooc.3	-	7	1186	c.1046C>T	c.(1045-1047)gCt>gTt	p.A349V		NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	Homo sapiens metallothionein-like 5, testis-specific (tesmin) (MTL5), transcript variant 1, mRNA.	349					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			TGGCTGGAAAGCTTCTGGATT	0.468													55	261					0	0	1	0	0	A	68480850	G	A	68480850	3	1	28	1	0	0	0	0	1	0	0	0	9936	971	34	3	492	3	MTL5	11	68480850	Missense_Mutation	SNP	G	TCGA-DB-5281-01A-01D-1468-08	7777149	68480850	66525666	29	1144											
LRRC32	2615	broad.mit.edu	37	chr11	76371899	76371899	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctcccgcaggtcaagccaGgtgagctggaactcagcctg	8	8	12	13	1	3	1	2	1	1	0	4	2	3	2	3	3	4	2	3	3	2	1			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr11:76371899G>C	uc001oxq.4	-	2	981	c.738C>G	c.(736-738)acC>acG	p.T246T	LRRC32_uc001oxr.4_Silent_p.T246T|LRRC32_uc010rsf.2_Silent_p.T246T	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	246						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GGTCAAGCCAGGTGAGCTGGA	0.617													19	90					0	0	1	0	0	C	76371899	G	C	76371899	2	2	28	1	0	0	0	0	0	0	0	1	8987	987	35	5		5	LRRC32	11	76371899	Silent	SNP	G	TCGA-DB-5281-01A-01D-1468-08	7891049	76371899	58634617	30	1145											
MAML2	84441	broad.mit.edu	37	chr11	95826019	95826019	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagagggcagagttggccatGgagaatgcggggccagctga	10	5	19	7	1	0	4	0	1	0	3	0	6	0	4	2	5	2	3	2	5	1	1			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr11:95826019G>A	uc001pfw.1	-	1	2461	c.1176C>T	c.(1174-1176)tcC>tcT	p.S392S		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA.	392					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				AGTTGGCCATGGAGAATGCGG	0.597			T	"MECT1, CRTC3"	salivary gland mucoepidermoid								22	11					0	0	1	0	0	A	95826019	G	A	95826019	2	1	28	1	0	0	0	0	0	0	0	1	9206	1335	47	3		3	MAML2	11	95826019	Silent	SNP	G	TCGA-DB-5281-01A-01D-1468-08	19454120	95826019	39180497	31	1146											
AICDA	57379	broad.mit.edu	37	chr12	8757943	8757943	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgaggttggggttccctcGcagaaagtcggccacatgtc	8	9	13	11	2	0	2	0	1	0	1	4	2	1	2	2	4	0	3	2	4	1	2			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr12:8757943G>A	uc001qur.2	-	2	374	c.295C>T	c.(295-297)Cga>Tga	p.R99*	AICDA_uc001qup.1_Nonsense_Mutation_p.R94*|AICDA_uc001quq.1_Nonsense_Mutation_p.R94*|AICDA_uc009zgd.1_Intron	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA.	99					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GGGTTCCCTCGCAGAAAGTCG	0.667													15	56					0	0	1	0	0	A	8757943	G	A	8757943	4	1	28	1	0	0	0	0	0	1	0	0	422	1095	38	1	313	1	AICDA	12	8757943	Nonsense_Mutation	SNP	G	TCGA-DB-5281-01A-01D-1468-08		8757943	125093952	32	1147											
RARG	5916	broad.mit.edu	37	chr12	53609147	53609147	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcgattcctggtcaccttGttgatgatacagtttttgtc	7	16	9	9	1	1	2	1	2	0	0	3	3	2	2	2	1	2	2	2	1	1	6			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr12:53609147G>A	uc001scf.3	-	4	897	c.405C>T	c.(403-405)aaC>aaT	p.N135N	RARG_uc001scd.3_Silent_p.N124N|RARG_uc010sob.2_Silent_p.N113N|RARG_uc001scg.3_Silent_p.N63N|RARG_uc010soc.2_Silent_p.N14N|RARG_uc001sce.3_Silent_p.N135N|RARG_uc010sod.2_Silent_p.N172N	NM_000966	NP_001230660	P13631	RARG_HUMAN	Homo sapiens retinoic acid receptor, gamma (RARG), transcript variant 1, mRNA.	135					canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TGGTCACCTTGTTGATGATAC	0.547													27	113					0	0	1	0	0	A	53609147	G	A	53609147	2	1	28	1	0	0	0	0	0	0	0	1	13054	1368	48	3		3	RARG	12	53609147	Silent	SNP	G	TCGA-DB-5281-01A-01D-1468-08	44851204	53609147	80242748	33	1148											
ACSS3	79611	broad.mit.edu	37	chr12	81647382	81647382	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtgtttgtcaaacagctacCcaaaaccagatctggcaaga	15	8	8	10	0	2	2	1	0	1	2	2	2	2	2	2	1	4	3	2	1	5	2			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr12:81647382C>T	uc001szl.1	+	14	2019	c.1928C>T	c.(1927-1929)cCc>cTc	p.P643L	ACSS3_uc001szm.1_Missense_Mutation_p.P642L|ACSS3_uc001szn.1_Missense_Mutation_p.P325L	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	643						mitochondrion	ATP binding|acetate-CoA ligase activity	p.L642L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						AAACAGCTACCCAAAACCAGA	0.428													21	108					0	0	1	0	0	T	81647382	C	T	81647382	3	4	28	1	0	0	0	0	1	0	0	0	190	623	22	3	1986	3	ACSS3	12	81647382	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08	28038235	81647382	52204513	34	1149											
C12orf51	283450	broad.mit.edu	37	chr12	112674788	112674788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactaaggacatcctggagcGcgtcattcccagcagcctgg	9	7	12	13	2	1	0	1	0	0	0	3	3	3	2	3	3	3	1	3	3	1	2			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr12:112674788G>A	uc021reb.1	-	34	5399	c.5003C>T	c.(5002-5004)gCg>gTg	p.A1668V		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						ATCCTGGAGCGCGTCATTCCC	0.572													6	26					0	0	1	0	0	A	112674788	G	A	112674788	3	1	28	1	0	0	0	0	1	0	0	0	1696	1087	38	1	8019	1	C12orf51	12	112674788	Missense_Mutation	SNP	G	TCGA-DB-5281-01A-01D-1468-08	31027406	112674788	21177107	35	1150											
RNF17	56163	broad.mit.edu	37	chr13	25425618	25425618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acaacacaacatggccattaCctgtgaaaattttctgcaga	15	10	6	10	0	1	2	0	1	1	1	1	2	1	2	2	1	4	1	2	1	5	3			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr13:25425618C>T	uc001upr.3	+	23	3270	c.3229C>T	c.(3229-3231)Cct>Tct	p.P1077S	RNF17_uc010tdd.1_Missense_Mutation_p.P936S|RNF17_uc010tde.2_Missense_Mutation_p.P1073S|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.P1016S|RNF17_uc010aac.3_Missense_Mutation_p.P275S|RNF17_uc010aad.3_Missense_Mutation_p.P129S	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	1077					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ATGGCCATTACCTGTGAAAAT	0.343													11	60					0	0	1	0	0	T	25425618	C	T	25425618	3	4	28	1	0	0	0	0	1	0	0	0	13461	507	18	3	3323	3	RNF17	13	25425618	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08		25425618	89744260	36	1151											
CCNA1	8900	broad.mit.edu	37	chr13	37015366	37015366	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactgtgaacaagcactttTgggtaagattctaacttctt	12	15	7	7	0	2	2	0	1	2	1	2	2	2	2	0	1	4	2	0	1	5	8			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr13:37015366T>C	uc001uvr.4	+	6	1560	c.1210T>C	c.(1210-1212)Tgg>Cgg	p.W404R	CCNA1_uc010teo.2_Missense_Mutation_p.W360R|CCNA1_uc010abq.3_Missense_Mutation_p.W360R|CCNA1_uc010abp.3_Missense_Mutation_p.W360R|CCNA1_uc001uvs.4_Missense_Mutation_p.W403R|CCNA1_uc010abr.3_Non-coding_Transcript	NM_003914	NP_001104517	P78396	CCNA1_HUMAN	Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA.	404					G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CAAGCACTTTTGGGTAAGATT	0.398													39	73					0	0	1	0	0	C	37015366	T	C	37015366	3	2	28	1	0	0	0	0	1	0	0	0	2909	1812	63	3	1236	3	CCNA1	13	37015366	Missense_Mutation	SNP	T	TCGA-DB-5281-01A-01D-1468-08	11589748	37015366	78154512	37	1152											
SMAD9	4093	broad.mit.edu	37	chr13	37427768	37427768	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagatgctgctgtcactcaCgcactcggcatacacctctc	10	9	7	15	2	3	1	2	0	1	1	5	1	3	1	1	1	3	4	1	1	2	1			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr13:37427768C>T	uc001uvw.3	-	5	1391	c.1048G>A	c.(1048-1050)Gtg>Atg	p.V350M	SMAD9_uc001uvx.3_Missense_Mutation_p.V313M|SMAD9_uc010tep.2_Missense_Mutation_p.V143M	NM_001127217	NP_001120689	O15198	SMAD9_HUMAN	Homo sapiens SMAD family member 9 (SMAD9), transcript variant a, mRNA.	350	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		CTGTCACTCACGCACTCGGCA	0.562													6	43					0	0	1	0	0	T	37427768	C	T	37427768	3	4	28	1	0	0	0	0	1	0	0	0	14764	536	19	1	363	1	SMAD9	13	37427768	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08	412402	37427768	77742110	38	1153											
MYCBP2	23077	broad.mit.edu	37	chr13	77714188	77714188	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttatcaattacctcatcAataaaagtgatagttccatt	14	15	3	9	0	3	1	3	1	0	0	4	1	4	1	3	0	1	1	3	0	7	7			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr13:77714188A>C	uc021rks.1	-	50	7779	c.7512T>G	c.(7510-7512)atT>atG	p.I2504M	MYCBP2_uc010aev.3_Missense_Mutation_p.I1870M	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	2466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTACCTCATCAATAAAAGTGA	0.398													4	78					0	0	1	0	0	C	77714188	A	C	77714188	3	2	28	1	0	0	0	0	1	0	0	0	10018	126	5	5	6656	5	MYCBP2	13	77714188	Missense_Mutation	SNP	A	TCGA-DB-5281-01A-01D-1468-08	40286420	77714188	37455690	39	1154											
TC2N	123036	broad.mit.edu	37	chr14	92268745	92268745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttctacctttcgatctcCaaaagatgctctggcagatc	11	12	7	11	1	3	2	0	0	3	2	6	3	3	2	2	1	2	3	2	1	4	3			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr14:92268745C>T	uc001xzu.4	-	3	513	c.322G>A	c.(322-324)Gga>Aga	p.G108R	TC2N_uc001xzt.4_Missense_Mutation_p.G108R|TC2N_uc010auc.3_Missense_Mutation_p.G108R|TC2N_uc001xzv.4_Missense_Mutation_p.G108R	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	108						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TTTCGATCTCCAAAAGATGCT	0.403													15	61					0	0	1	0	0	T	92268745	C	T	92268745	3	4	28	1	0	0	0	0	1	0	0	0	15662	603	21	3	1186	3	TC2N	14	92268745	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08		92268745	15080795	40	1155											
DYX1C1	161582	broad.mit.edu	37	chr15	55742505	55742505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttaatactgccaacagagCgaggagcaggaatactgtct	13	10	10	8	1	1	1	0	0	1	1	1	4	1	3	1	2	6	1	1	2	5	4			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr15:55742505C>T	uc002adc.3	-	5	1066	c.698G>A	c.(697-699)cGc>cAc	p.R233H	CCPG1_uc002acy.3_5'UTR|CCPG1_uc010ugh.1_Non-coding_Transcript|CCPG1_uc010ugi.2_Non-coding_Transcript|DYX1C1_uc002adb.3_Missense_Mutation_p.R233H|DYX1C1_uc002add.3_Missense_Mutation_p.R233H	NM_130810	NP_570722	Q8WXU2	DYXC1_HUMAN	Homo sapiens dyslexia susceptibility 1 candidate 1 (DYX1C1), transcript variant 1, mRNA.	233					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		GCCAACAGAGCGAGGAGCAGG	0.378													32	62					0	0	1	0	0	T	55742505	C	T	55742505	3	4	28	1	0	0	0	0	1	0	0	0	4862	768	27	1	687	1	DYX1C1	15	55742505	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08		55742505	46788887	41	1156											
ALDH1A3	220	broad.mit.edu	37	chr15	101447398	101447398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taaaaagagcgaatagcaccGactatggactcacagcagcc	16	5	9	11	2	1	1	1	0	0	1	1	4	1	2	2	1	4	2	2	1	6	3	rs145630728	byFrequency	TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr15:101447398G>A	uc002bwn.4	+	10	1410	c.1306G>A	c.(1306-1308)Gac>Aac	p.D436N	ALDH1A3_uc010bpb.3_Missense_Mutation_p.D329N|BC073817_uc002bwo.1_Intron|AF198444_uc021sxs.1_5'Flank	NM_000693	NP_000684	P47895	AL1A3_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A3 (ALDH1A3), mRNA.	436					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity	p.T435T(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	GAATAGCACCGACTATGGACT	0.438													68	40					0	0	1	0	0	A	101447398	G	A	101447398	3	1	28	1	0	0	0	0	1	0	0	0	492	1058	37	2	1348	2	ALDH1A3	15	101447398	Missense_Mutation	SNP	G	TCGA-DB-5281-01A-01D-1468-08	45704893	101447398	1083994	42	1157											
TNRC6A	27327	broad.mit.edu	37	chr16	24802981	24802981	+	Silent	SNP	A	A	C																															gagattgatgatggaacttcAgcttggggagatccaagcaa																										TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr16:24802981A>C	uc002dmm.3	+	5	3132	c.3018A>C	c.(3016-3018)tcA>tcC	p.S1006S	TNRC6A_uc010bxs.3_Silent_p.S753S|TNRC6A_uc010vcc.1_Silent_p.S753S|TNRC6A_uc002dmn.3_Silent_p.S753S|TNRC6A_uc002dmo.3_Silent_p.S753S	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	1006	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ATGGAACTTCAGCTTGGGGAG	0.473													23	57					0	0	1	0	0	C	24802981	A	C	24802981	2	2	28	1	0	0	0	0	0	0	0	1	16337	175	7	5		5	TNRC6A	16	24802981	Silent	SNP	A	TCGA-DB-5281-01A-01D-1468-08		24802981	65551772	43	1158	2	2									
TNRC6A	27327	broad.mit.edu	37	chr16	24802982	24802982	+	Missense_Mutation	SNP	G	G	C																															agattgatgatggaacttcaGcttggggagatccaagcaaa																										TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr16:24802982G>C	uc002dmm.3	+	5	3133	c.3019G>C	c.(3019-3021)Gct>Cct	p.A1007P	TNRC6A_uc010bxs.3_Missense_Mutation_p.A754P|TNRC6A_uc010vcc.1_Missense_Mutation_p.A754P|TNRC6A_uc002dmn.3_Missense_Mutation_p.A754P|TNRC6A_uc002dmo.3_Missense_Mutation_p.A754P	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	1007	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGGAACTTCAGCTTGGGGAGA	0.468													24	55					0	0	1	0	0	C	24802982	G	C	24802982	3	2	28	1	0	0	0	0	1	0	0	0	16337	971	34	5	3041	5	TNRC6A	16	24802982	Missense_Mutation	SNP	G	TCGA-DB-5281-01A-01D-1468-08	1	24802982	65551771	44	1159	2	2									
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr17:7577538C>T	uc002gim.2	-	6	937	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.3_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q|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.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			39	45					0	0	1	0	0	T	7577538	C	T	7577538	3	4	28	1	0	0	0	0	1	0	0	0	16378	652	23	2	547	2	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08		7577538	73617672	45	1160											
TP53	7157	broad.mit.edu	37	chr17	7579694	7579699	+	Splice_Site	DEL	CCTTAC	CCTTAC	-																															gtccccagcccaacccttgtCcttaccagaacgttgttttc																										TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr17:7579694_7579699delCCTTAC	uc002gim.2	-	3	290	c.96_splice	c.e3+1	p.L32_splice	TP53_uc002gig.1_Splice_Site_p.L32_splice|TP53_uc002gih.3_Splice_Site_p.L32_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Splice_Site_p.L32_splice|TP53_uc010cnh.1_Splice_Site_p.L32_splice|TP53_uc002gij.2_Splice_Site_p.L32_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Splice_Site_p.L32_splice|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Splice_Site|TP53_uc010cnk.1_Splice_Site_p.L47_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	32	Interaction with HRMT1L2.|Transcription activation (acidic).				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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(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)		cAACCCTTGTCCTTACCAGAACGTTG	0.587		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)			8	46	---	---	---	---						-	7579699	CCTTAC	-	7579694	8	5	28	1	0	1	0	1	0	0	1	0	16378	870	30	0		0	TP53	17	7579694	Splice_Site	DEL	CCTTAC	TCGA-DB-5281-01A-01D-1468-08	2156	7579694	73615516	46	1161											
NEK8	284086	broad.mit.edu	37	chr17	27068158	27068158	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgggcaccaatactcgcCgaggcagtcgggcaccctgt	8	7	13	13	3	0	0	0	0	0	0	2	1	0	0	3	3	1	4	3	3	2	2			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr17:27068158C>T	uc002hcp.3	+	12	1795	c.1795C>T	c.(1795-1797)Cga>Tga	p.R599*	TRAF4_uc002hcq.1_5'Flank|TRAF4_uc002hcs.3_5'Flank	NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 8 (NEK8), mRNA.	599						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CAATACTCGCCGAGGCAGTCG	0.572													24	109					0	0	1	0	0	T	27068158	C	T	27068158	4	4	28	1	0	0	0	0	0	1	0	0	10330	644	23	2	1845	2	NEK8	17	27068158	Nonsense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08	19488464	27068158	54127052	47	1162											
MUC16	94025	broad.mit.edu	37	chr19	9082521	9082521	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcttcttctgcaatggtCtggcttgaggttaactcagg	6	14	10	11	0	5	1	1	1	4	0	5	1	5	1	1	4	2	3	1	4	2	4			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:9082521C>A	uc002mkp.3	-	0	9498	c.9294G>T	c.(9292-9294)caG>caT	p.Q3098H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3099	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGCAATGGTCTGGCTTGAGG	0.478													44	248					3.40343e-31	3.65368e-31	1	1	0	A	9082521	C	A	9082521	3	1	28	1	0	0	0	0	1	0	0	0	9973	912	32	5	34565	5	MUC16	19	9082521	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08		9082521	50046462	48	1163											
KANK2	25959	broad.mit.edu	37	chr19	11303539	11303539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcagcttcgctctgtgatgCtaatcttcttcaccatatgg	7	14	8	12	2	4	1	1	1	3	0	5	1	4	1	1	1	2	4	1	1	2	5			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:11303539C>T	uc002mqm.3	-	1	1296	c.1217G>A	c.(1216-1218)aGc>aAc	p.S406N	KANK2_uc021upe.1_Missense_Mutation_p.S406N|KANK2_uc002mqo.4_Missense_Mutation_p.S406N|KANK2_uc002mqp.1_Missense_Mutation_p.S215N|KANK2_uc002mqq.3_Missense_Mutation_p.S406N	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA.	406										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTCTGTGATGCTAATCTTCTT	0.612													18	88					0	0	1	0	0	T	11303539	C	T	11303539	3	4	28	1	0	0	0	0	1	0	0	0	7977	797	28	3	1402	3	KANK2	19	11303539	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08	2221018	11303539	47825444	49	1164											
ZNF20	7568	broad.mit.edu	37	chr19	12244606	12244606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catattcctgatactcagatGacttgtgtccagtgtcagct	9	14	8	10	0	2	3	2	2	0	1	4	3	4	3	2	0	2	1	2	0	2	4			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:12244606G>A	uc002mtg.2	-	7	977	c.395C>T	c.(394-396)tCa>tTa	p.S132L	ZNF20_uc002mte.2_Missense_Mutation_p.S97L|ZNF20_uc002mtf.2_Missense_Mutation_p.S132L|ZNF20_uc021upm.1_Missense_Mutation_p.S129L	NM_021143	NP_066966	P17024	ZNF20_HUMAN	Homo sapiens zinc finger protein 20 (ZNF20), transcript variant 1, mRNA.	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						ATACTCAGATGACTTGTGTCC	0.408													59	231					0	0	1	0	0	A	12244606	G	A	12244606	3	1	28	1	0	0	0	0	1	0	0	0	17758	1294	45	3	1207	3	ZNF20	19	12244606	Missense_Mutation	SNP	G	TCGA-DB-5281-01A-01D-1468-08	941067	12244606	46884377	50	1165											
SLC1A6	6511	broad.mit.edu	37	chr19	15073101	15073101	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggcacccggctcagacccGttctctgtcctcaccatggt	6	9	10	16	2	3	1	2	0	1	1	5	2	4	1	4	3	0	3	4	3	0	1	rs150916469	byFrequency	TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:15073101G>A	uc002naa.1	-	4	655	c.648C>T	c.(646-648)aaC>aaT	p.N216N	SLC1A6_uc010dzu.1_Silent_p.N216N|SLC1A6_uc010xod.1_Silent_p.N152N|SLC1A6_uc002nab.3_Silent_p.N216N|SLC1A6_uc002nac.3_Silent_p.N216N	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	216					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GCTCAGACCCGTTCTCTGTCC	0.557													41	139					0	0	1	0	0	A	15073101	G	A	15073101	2	1	28	1	0	0	0	0	0	0	0	1	14436	1136	40	1		1	SLC1A6	19	15073101	Silent	SNP	G	TCGA-DB-5281-01A-01D-1468-08	2828495	15073101	44055882	51	1166											
HNRNPL	3191	broad.mit.edu	37	chr19	39328114	39328114	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagtccagaggagctgcGctcacctgattgcaaaccaa	12	6	10	13	1	1	2	1	1	0	1	2	3	2	3	3	1	5	4	3	1	2	1			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:39328114G>A	uc021uuh.1	-	11	1632	c.1621C>T	c.(1621-1623)Cgc>Tgc	p.R541C	HNRNPL_uc002ojj.1_Missense_Mutation_p.R197C|HNRNPL_uc010ege.1_Missense_Mutation_p.R89C|HNRNPL_uc002ojk.3_Missense_Mutation_p.R197C|HNRNPL_uc002ojl.3_Missense_Mutation_p.R197C|HNRNPL_uc021uui.1_Missense_Mutation_p.R408C|HNRNPL_uc002ojo.1_Missense_Mutation_p.R119C	NM_001533	NP_001005335	P14866	HNRPL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein L (HNRNPL), transcript variant 1, mRNA.	541					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GAGGAGCTGCGCTCACCTGAT	0.512													42	78					0	0	1	0	0	A	39328114	G	A	39328114	3	1	28	1	0	0	0	0	1	0	0	0	7270	1087	38	1	156	1	HNRNPL	19	39328114	Missense_Mutation	SNP	G	TCGA-DB-5281-01A-01D-1468-08	24255013	39328114	19800869	52	1167											
ZNF845	91664	broad.mit.edu	37	chr19	53854880	53854880	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcagcccttgtaattcatAaggcaattcatactggagag	13	12	8	8	0	3	1	3	0	0	1	3	2	3	1	1	2	2	2	1	2	4	7			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:53854880A>G	uc010ydv.1	+	3	1069	c.952A>G	c.(952-954)Aag>Gag	p.K318E	ZNF845_uc010ydw.1_Missense_Mutation_p.K318E	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TGTAATTCATAAGGCAATTCA	0.413													41	67					0	0	1	0	0	G	53854880	A	G	53854880	3	3	28	1	0	0	0	0	1	0	0	0	18188	363	13	3	962	3	ZNF845	19	53854880	Missense_Mutation	SNP	A	TCGA-DB-5281-01A-01D-1468-08	14526766	53854880	5274103	53	1168											
LILRB5	10990	broad.mit.edu	37	chr19	54754843	54754843	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacgtggtgggggtggggAggcctgggggcctggagagg	5	5	26	5	1	0	1	0	0	0	1	0	4	0	3	2	11	1	0	2	11	1	0			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:54754843A>G	uc010yer.1	-	12	1903	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Intron|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Intron|LILRB5_uc002qfa.1_3'UTR			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	423					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607													4	40					0	0	1	0	0	G	54754843	A	G	54754843	3	3	28	1	0	0	0	0	1	0	0	0	8794	319	11	4		4	LILRB5	19	54754843	Missense_Mutation	SNP	A	TCGA-DB-5281-01A-01D-1468-08	899963	54754843	4374140	54	1169											
NLRP4	147945	broad.mit.edu	37	chr19	56369610	56369610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctatcaaacccgtgtgccCgaaggagctccgggatcagg	9	6	13	13	4	2	0	2	0	0	0	3	3	3	2	3	3	3	2	3	3	3	1			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:56369610C>T	uc002qmd.4	+	2	1273	c.851C>T	c.(850-852)cCg>cTg	p.P284L	NLRP4_uc002qmf.3_Missense_Mutation_p.P209L|NLRP4_uc010etf.3_Missense_Mutation_p.P115L	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	284	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCCGTGTGCCCGAAGGAGCTC	0.537													29	142					0	0	1	0	0	T	56369610	C	T	56369610	3	4	28	1	0	0	0	0	1	0	0	0	10479	652	23	2	857	2	NLRP4	19	56369610	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08	1614767	56369610	2759373	55	1170											
ZNF71	58491	broad.mit.edu	37	chr19	57132875	57132875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttagggggctcagtacccGcatgtcatgaactgaaggca	10	9	12	10	1	3	2	2	2	1	0	3	2	3	2	1	3	2	4	1	3	4	2	rs141566979	byFrequency	TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:57132875G>A	uc002qnm.4	+	2	458	c.220G>A	c.(220-222)Gca>Aca	p.A74T	ZNF71_uc021vcg.1_Missense_Mutation_p.A74T	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	74						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A74T(2)		endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CTCAGTACCCGCATGTCATGA	0.617													11	68					0	0	1	0	0	A	57132875	G	A	57132875	3	1	28	1	0	0	0	0	1	0	0	0	18111	1087	38	1	222	1	ZNF71	19	57132875	Missense_Mutation	SNP	G	TCGA-DB-5281-01A-01D-1468-08	763265	57132875	1996108	56	1171											
NSFL1C	55968	broad.mit.edu	37	chr20	1426390	1426390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttgtggtaggctctgattCgtcgattaagatggaagagc	9	13	14	5	2	1	3	0	1	1	2	3	5	1	4	0	3	1	3	0	3	3	4			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr20:1426390C>T	uc002wfc.3	-	7	1739	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	NSFL1C_uc021vzq.1_Missense_Mutation_p.E177K|NSFL1C_uc002wfe.3_Missense_Mutation_p.E260K	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN	Homo sapiens NSFL1 (p97) cofactor (p47) (NSFL1C), transcript variant 1, mRNA.	291	UBX.					Golgi stack|chromosome|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						GGCTCTGATTCGTCGATTAAG	0.532													17	257					0	0	1	0	0	T	1426390	C	T	1426390	3	4	28	1	0	0	0	0	1	0	0	0	10672	893	31	2	249	2	NSFL1C	20	1426390	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08		1426390	61599130	57	1172											
DONSON	29980	broad.mit.edu	37	chr21	35288047	35288047	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctgccgggagagcccGgacactgctggggcagccat	7	5	14	15	2	1	1	1	0	0	1	1	3	1	2	4	4	4	2	4	4	0	0			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr21:35288047G>A	uc002ytl.3	-	0	112	c.21C>T	c.(19-21)tcC>tcT	p.S7S	DONSON_uc002ytm.1_5'Flank	NM_001697	NP_001688	Q9NYP3	DONS_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit (ATP5O), nuclear gene encoding mitochondrial protein, mRNA.	0					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						GGGAGAGCCCGGACACTGCTG	0.652													5	4					0	0	1	0	0	A	35288047	G	A	35288047	2	1	28	1	0	0	0	0	0	0	0	1	4706	1103	39	2		2	DONSON	21	35288047	Silent	SNP	G	TCGA-DB-5281-01A-01D-1468-08		35288047	12841848	58	1173											
BEND2	139105	broad.mit.edu	37	chrX	18234679	18234679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacggtgatggccatcattgCcgcctggaaaatttggttgt	8	12	13	8	2	1	1	1	1	0	0	1	3	1	2	3	4	1	1	3	4	2	3			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chrX:18234679C>T	uc004cyj.4	-	1	354	c.200G>A	c.(199-201)gGc>gAc	p.G67D	BEND2_uc010nfb.2_Missense_Mutation_p.G67D	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	67								p.G66V(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GCCATCATTGCCGCCTGGAAA	0.408													38	6					0	0	1	0	0	T	18234679	C	T	18234679	3	4	28	1	0	0	0	0	1	0	0	0	1398	739	26	3	2277	3	BEND2	23	18234679	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08		18234679	137035881	59	1174											
ATRX	546	broad.mit.edu	37	chrX	76940083	76940083	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttccaccttccgcacacCacctgaaatgttttaaagat	12	12	5	12	1	0	2	0	1	0	1	2	2	2	2	5	0	0	3	5	0	3	4			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chrX:76940083C>T	uc004ecp.4	-	8	897	c.665G>A	c.(664-666)tGg>tAg	p.W222*	ATRX_uc004ecq.4_Nonsense_Mutation_p.W184*|ATRX_uc004eco.4_Nonsense_Mutation_p.W7*|ATRX_uc004ecr.2_Nonsense_Mutation_p.W183*|ATRX_uc010nlx.1_Nonsense_Mutation_p.W222*|ATRX_uc010nly.1_Nonsense_Mutation_p.W167*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	222	ADD.		W -> S (in ATRX).		DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTCCGCACACCACCTGAAATG	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						81	13					0	0	1	0	0	T	76940083	C	T	76940083	4	4	28	1	0	0	0	0	0	1	0	0	1208	595	21	3	6921	3	ATRX	23	76940083	Nonsense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08	58705404	76940083	78330477	60	1175											
CYP4A11	1579	broad.mit.edu	37	chr1	47395834	47395834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttagggagcctcctgagacGcaggtggattccatttttgg	7	12	14	8	1	0	1	0	1	0	1	2	4	2	3	3	4	1	2	3	4	1	4			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr1:47395834G>A	uc001cqp.4	-	11	1564	c.1513C>T	c.(1513-1515)Cgt>Tgt	p.R505C		NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	505			NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V).		long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	CTCCTGAGACGCAGGTGGATT	0.587													18	25					0	0	1	0	0	A	47395834	G	A	47395834	3	1	29	1	0	0	0	0	1	0	0	0	4183	1087	38	1	50	1	CYP4A11	1	47395834	Missense_Mutation	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08		47395834	201854787	1	1176											
GNG12	55970	broad.mit.edu	37	chr1	68171150	68171151	+	Frame_Shift_Ins	INS	-	-	T																															ccactataagatgatgcaagINStttttttatccttgaaaggg																										TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr1:68171150_68171151insT	uc001dea.2	-	3	407_408	c.202_203insA	c.(202-204)actfs	p.T68fs		NM_018841	NP_061329	Q9UBI6	GBG12_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 12 (GNG12), mRNA.	68					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			lung(3)	3						GATGATGCAAGTTTTTTTATCC	0.436													23	38	---	---	---	---						T	68171151	-	T	68171150	7	5	29	1	0	1	1	0	0	0	0	0	6525	1029	36	0	19	0	GNG12	1	68171150	Frame_Shift_Ins	INS	-	TCGA-DB-A4X9-01A-11D-A26M-08	20775316	68171150	181079471	2	1177											
DCLRE1B	64858	broad.mit.edu	37	chr1	114453833	114453833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtggtattgagtcctcggCgcctggagttggtacagcta	6	11	16	8	2	0	1	0	1	0	0	2	2	1	2	2	5	2	4	2	5	3	5			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr1:114453833C>T	uc001eeg.3	+	3	913	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C	DCLRE1B_uc001eeh.3_Missense_Mutation_p.R81C|DCLRE1B_uc001eei.3_Missense_Mutation_p.R81C	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA.	207					DNA repair|cell cycle checkpoint|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGTCCTCGGCGCCTGGAGTT	0.532								Other identified genes with known or suspected DNA repair function					19	19					0	0	1	0	0	T	114453833	C	T	114453833	3	4	29	1	0	0	0	0	1	0	0	0	4295	768	27	1	633	1	DCLRE1B	1	114453833	Missense_Mutation	SNP	C	TCGA-DB-A4X9-01A-11D-A26M-08	46282683	114453833	134796788	3	1178											
NUP210L	91181	broad.mit.edu	37	chr1	153995731	153995731	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttccttgggctgtgtataGcttgggttggctgctcactc	3	15	12	11	0	1	0	1	0	0	0	3	0	2	0	2	3	2	6	2	3	2	6			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr1:153995731G>A	uc001fdw.3	-	30	4237	c.4165C>T	c.(4165-4167)Cta>Tta	p.L1389L	NUP210L_uc009woq.3_Silent_p.L298L|NUP210L_uc010peh.2_Silent_p.L1389L	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	1389						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GCTGTGTATAGCTTGGGTTGG	0.493													4	53					0	0	1	0	0	A	153995731	G	A	153995731	2	1	29	1	0	0	0	0	0	0	0	1	10761	962	34	3		3	NUP210L	1	153995731	Silent	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08	39541898	153995731	95254890	4	1179											
TOR1AIP2	163590	broad.mit.edu	37	chr1	179819995	179819995	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacctggggccagcagtcGcctcctcagtgtatcctcac	6	10	9	16	1	2	0	2	0	0	0	5	0	4	0	5	2	2	2	5	2	2	2			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr1:179819995G>A	uc001gnl.3	-	4	1352	c.538C>T	c.(538-540)Cga>Tga	p.R180*	TOR1AIP2_uc001gnk.3_Nonsense_Mutation_p.R180*	NM_001199260	NP_001186189	Q8NFQ8	TOIP2_HUMAN	Homo sapiens torsin A interacting protein 2 (TOR1AIP2), transcript variant 3, mRNA.	180						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						GCCAGCAGTCGCCTCCTCAGT	0.542													24	34					0	0	1	0	0	A	179819995	G	A	179819995	4	1	29	1	0	0	0	0	0	1	0	0	16370	1095	38	1	886	1	TOR1AIP2	1	179819995	Nonsense_Mutation	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08	25824264	179819995	69430626	5	1180											
OR2T2	401992	broad.mit.edu	37	chr1	248616320	248616320	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccatcatggataccatctaCatctgtatcactgtccccaa	11	12	4	14	0	4	0	2	0	2	0	6	1	6	1	4	1	2	1	4	1	4	3			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr1:248616320C>T	uc001iek.1	+	0	222	c.222C>T	c.(220-222)taC>taT	p.Y74Y		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATACCATCTACATCTGTATCA	0.527													15	76					0	0	1	0	0	T	248616320	C	T	248616320	2	4	29	1	0	0	0	0	0	0	0	1	11020	489	17	3		3	OR2T2	1	248616320	Silent	SNP	C	TCGA-DB-A4X9-01A-11D-A26M-08	68796325	248616320	634301	6	1181											
TLK1	9874	broad.mit.edu	37	chr2	171871388	171871388	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatcttcattgtttattcttTtcagctcacgtatgtgaaga	9	19	6	7	1	5	2	3	1	2	1	5	2	5	2	0	0	1	3	0	0	4	9			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr2:171871388T>C	uc002ugo.2	-	13	1842	c.1370A>G	c.(1369-1371)aAa>aGa	p.K457R	TLK1_uc002ugn.2_Missense_Mutation_p.K436R|TLK1_uc002ugp.2_Missense_Mutation_p.K388R|TLK1_uc002ugq.2_Non-coding_Transcript|TLK1_uc010zdn.1_Missense_Mutation_p.K340R	NM_001136554	NP_036422	Q9UKI8	TLK1_HUMAN	Homo sapiens tousled-like kinase 1 (TLK1), transcript variant 2, mRNA.	436	Protein kinase.				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						GTTTATTCTTTTCAGCTCACG	0.378													6	35					0	0	1	0	0	C	171871388	T	C	171871388	3	2	29	1	0	0	0	0	1	0	0	0	15940	1841	64	3	1029	3	TLK1	2	171871388	Missense_Mutation	SNP	T	TCGA-DB-A4X9-01A-11D-A26M-08		171871388	71327985	7	1182											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								12	20					0	0	1	0	0	T	209113112	C	T	209113112	3	4	29	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A4X9-01A-11D-A26M-08	37241724	209113112	34086261	8	1183											
ERBB4	2066	broad.mit.edu	37	chr2	212587211	212587211	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggattgtagacaaaggtttGgggacactgagtaacacatg	13	10	13	5	0	0	2	0	1	0	1	0	4	0	4	0	4	1	3	0	4	3	4			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr2:212587211G>C	uc002veg.1	-	6	888	c.790C>G	c.(790-792)Caa>Gaa	p.Q264E	ERBB4_uc002veh.1_Missense_Mutation_p.Q264E|ERBB4_uc010zji.1_Missense_Mutation_p.Q264E|ERBB4_uc010zjj.1_Missense_Mutation_p.Q264E|ERBB4_uc010fut.1_Missense_Mutation_p.Q264E	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	264	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ACAAAGGTTTGGGGACACTGA	0.383										TSP Lung(8;0.080)			13	12					0	0	1	0	0	C	212587211	G	C	212587211	3	2	29	1	0	0	0	0	1	0	0	0	5209	1357	47	5	3224	5	ERBB4	2	212587211	Missense_Mutation	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08	3474099	212587211	30612162	9	1184											
FEZF2	55079	broad.mit.edu	37	chr3	62355877	62355877	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaaccctttgccgcaagTggcgcacgtgaaaggcttct	10	8	11	12	3	1	1	0	1	1	0	1	1	1	1	2	2	2	4	2	2	4	2			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr3:62355877T>C	uc003dlh.2	-	3	1468	c.1261A>G	c.(1261-1263)Act>Gct	p.T421A	FEZF2_uc003dli.2_Missense_Mutation_p.T421A	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN	Homo sapiens FEZ family zinc finger 2 (FEZF2), mRNA.	421					transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		TTGCCGCAAGTGGCGCACGTG	0.527													38	55					0	0	1	0	0	C	62355877	T	C	62355877	3	2	29	1	0	0	0	0	1	0	0	0	5826	1696	59	3	122	3	FEZF2	3	62355877	Missense_Mutation	SNP	T	TCGA-DB-A4X9-01A-11D-A26M-08		62355877	135666553	10	1185											
SLC9A3	6550	broad.mit.edu	37	chr5	491957	491957	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccacacggtacccacgacGgcgtacaacaggatggtccc	10	6	10	15	4	0	0	0	0	0	0	2	2	2	1	3	4	3	2	3	4	3	3			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr5:491957G>A	uc003jbe.2	-	1	553	c.441C>T	c.(439-441)gcC>gcT	p.A147A	SLC9A3_uc011clx.1_Silent_p.A147A	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA.	147						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TACCCACGACGGCGTACAACA	0.642													4	9					0	0	1	0	0	A	491957	G	A	491957	2	1	29	1	0	0	0	0	0	0	0	1	14713	1103	39	2		2	SLC9A3	5	491957	Silent	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08		491957	180423303	11	1186											
RBM27	54439	broad.mit.edu	37	chr5	145608531	145608531	+	Frame_Shift_Del	DEL	A	A	-																															atttcaggagccagcagaggAagaacgagatggcagaaaaa																										TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr5:145608531delA	uc003lnz.4	+	3	492	c.326delA	c.(325-327)gaafs	p.E109fs	RBM27_uc003lny.2_Frame_Shift_Del_p.E109fs	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	Homo sapiens RNA binding motif protein 27 (RBM27), mRNA.	109					mRNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGCAGAGGAAGAACGAGAT	0.418													27	41	---	---	---	---						-	145608531	A	-	145608531	7	5	29	1	0	1	0	1	0	0	0	0	13127	246	9	0	340	0	RBM27	5	145608531	Frame_Shift_Del	DEL	A	TCGA-DB-A4X9-01A-11D-A26M-08	145116574	145608531	35306729	12	1187											
FARS2	10667	broad.mit.edu	37	chr6	5369186	5369186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctggcagaactttgacaGcctgctcatcccagctgatc	9	9	9	14	0	1	3	1	2	0	1	3	4	2	3	3	1	4	3	3	1	1	1			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr6:5369186G>A	uc010jnv.1	+	1	719	c.383G>A	c.(382-384)aGc>aAc	p.S128N	FARS2_uc003mwr.2_Missense_Mutation_p.S128N	NM_006567	NP_006558	O95363	SYFM_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2), nuclear gene encoding mitochondrial protein, mRNA.	128					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	AACTTTGACAGCCTGCTCATC	0.557													15	18					0	0	1	0	0	A	5369186	G	A	5369186	3	1	29	1	0	0	0	0	1	0	0	0	5678	971	34	3	385	3	FARS2	6	5369186	Missense_Mutation	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08		5369186	165745881	13	1188											
SYNJ2	8871	broad.mit.edu	37	chr6	158516963	158516963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtcctgcagagcaacaGccagcttctccagggcctca	9	6	11	15	0	2	1	1	0	1	1	4	1	3	1	4	2	5	4	4	2	1	1			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr6:158516963G>A	uc003qqx.2	+	26	4164	c.4058G>A	c.(4057-4059)aGc>aAc	p.S1353N	SYNJ2_uc003qqy.2_Missense_Mutation_p.S1116N|SYNJ2_uc003qqz.2_Missense_Mutation_p.S970N|SYNJ2_uc003qra.2_Missense_Mutation_p.S696N	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	1353							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CAGAGCAACAGCCAGCTTCTC	0.642													9	10					0	0	1	0	0	A	158516963	G	A	158516963	3	1	29	1	0	0	0	0	1	0	0	0	15450	971	34	3	4164	3	SYNJ2	6	158516963	Missense_Mutation	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08	153147777	158516963	12598104	14	1189											
FGL2	10875	broad.mit.edu	37	chr7	76826042	76826042	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catttccttactcttggtcaGaagatgaattttatcgttcc	9	17	6	9	1	2	3	1	1	1	2	5	3	4	3	2	1	1	1	2	1	4	6			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr7:76826042G>A	uc003ugb.3	-	1	914	c.874C>T	c.(874-876)Ctg>Ttg	p.L292L	CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.3_Intron	NM_006682	NP_006673	Q14314	FGL2_HUMAN	Homo sapiens fibrinogen-like 2 (FGL2), mRNA.	292	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						CTCTTGGTCAGAAGATGAATT	0.408													5	71					0	0	1	0	0	A	76826042	G	A	76826042	2	1	29	1	0	0	0	0	0	0	0	1	5873	933	33	3		3	FGL2	7	76826042	Silent	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08		76826042	82312621	15	1190											
COL1A2	1278	broad.mit.edu	37	chr7	94056997	94056997	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaagcggtggtggttatgActttggttacgatggagact	8	14	15	4	2	0	2	0	1	0	1	0	4	0	2	0	5	2	3	0	5	3	4			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr7:94056997A>G	uc003ung.1	+	48	3797	c.3326A>G	c.(3325-3327)gAc>gGc	p.D1109G	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	1109					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGTGGTTATGACTTTGGTTAC	0.532										HNSCC(75;0.22)			32	57					0	0	1	0	0	G	94056997	A	G	94056997	3	3	29	1	0	0	0	0	1	0	0	0	3678	275	10	3	3520	3	COL1A2	7	94056997	Missense_Mutation	SNP	A	TCGA-DB-A4X9-01A-11D-A26M-08	17230955	94056997	65081666	16	1191											
SFMBT2	57713	broad.mit.edu	37	chr10	7213994	7213994	+	Frame_Shift_Del	DEL	C	C	-																															gccgctccgcagggtgacggCcctccggggccgggccgagg																										TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr10:7213994delC	uc009xio.2	-	18	2369	c.2278delG	c.(2278-2280)gccfs	p.A760fs	SFMBT2_uc001ijn.2_Frame_Shift_Del_p.A760fs|SFMBT2_uc010qay.2_Frame_Shift_Del_p.A595fs	NM_001018039	NP_001018049	Q5VUG0	SMBT2_HUMAN	Homo sapiens Scm-like with four mbt domains 2 (SFMBT2), transcript variant 2, mRNA.	760					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						AGGGTGACGGCCCTCCGGGGC	0.741													2	4	---	---	---	---						-	7213994	C	-	7213994	7	5	29	1	0	1	0	1	0	0	0	0	14158	739	26	0	418	0	SFMBT2	10	7213994	Frame_Shift_Del	DEL	C	TCGA-DB-A4X9-01A-11D-A26M-08		7213994	128320753	17	1192											
CDH23	64072	broad.mit.edu	37	chr10	73569736	73569736	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagcgcgtcaagatcgtcaTtaacgagatccccgaccgtg	10	7	10	14	6	2	2	2	0	0	2	4	4	3	2	4	0	2	0	4	0	2	1			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr10:73569736T>C	uc001jrx.4	+	58	9263	c.8873T>C	c.(8872-8874)aTt>aCt	p.I2958T	CDH23_uc001jsg.4_Missense_Mutation_p.I721T|CDH23_uc001jsh.4_Missense_Mutation_p.I721T|CDH23_uc001jsi.4_Missense_Mutation_p.I721T|CDH23_uc001jsj.4_5'Flank|CDH23_uc010qjr.2_5'Flank	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	2961	Cadherin 27.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						AAGATCGTCATTAACGAGATC	0.577													4	113					0	0	1	0	0	C	73569736	T	C	73569736	3	2	29	1	0	0	0	0	1	0	0	0	3108	1493	52	3	9465	3	CDH23	10	73569736	Missense_Mutation	SNP	T	TCGA-DB-A4X9-01A-11D-A26M-08	66355742	73569736	61965011	18	1193											
OR10G7	390265	broad.mit.edu	37	chr11	123909445	123909445	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggaaggagatagtcctGccgcttggggacaccaaggt	9	8	15	9	1	0	1	0	0	0	1	1	4	1	3	3	5	1	1	3	5	3	2			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr11:123909445G>C	uc001pzq.1	-	0	264	c.264C>G	c.(262-264)ggC>ggG	p.G88G		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGATAGTCCTGCCGCTTGGGG	0.527													12	129					0	0	1	0	0	C	123909445	G	C	123909445	2	2	29	1	0	0	0	0	0	0	0	1	10902	1306	46	5		5	OR10G7	11	123909445	Silent	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08		123909445	11097071	19	1194											
VPS13C	54832	broad.mit.edu	37	chr15	62256122	62256122	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaaatagcctgaaatcaatAatgtcactatctctggagga	15	10	8	8	0	3	1	2	1	1	0	4	3	3	3	1	2	1	1	1	2	6	3			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr15:62256122A>C	uc002agz.3	-	31	3334	c.3243T>G	c.(3241-3243)atT>atG	p.I1081M	VPS13C_uc002aha.3_Missense_Mutation_p.I1038M|VPS13C_uc002ahb.2_Missense_Mutation_p.I1081M|VPS13C_uc002ahc.2_Missense_Mutation_p.I1038M	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	1081					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGAAATCAATAATGTCACTAT	0.353													7	35					0	0	1	0	0	C	62256122	A	C	62256122	3	2	29	1	0	0	0	0	1	0	0	0	17188	358	13	5	8262	5	VPS13C	15	62256122	Missense_Mutation	SNP	A	TCGA-DB-A4X9-01A-11D-A26M-08		62256122	40275270	20	1195											
SMAD3	4088	broad.mit.edu	37	chr15	67457635	67457635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccacacagagatcccggccGagttccccccactggacgac	9	4	10	18	3	0	1	0	0	0	1	2	5	2	2	6	2	0	1	6	2	0	1			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr15:67457635G>A	uc002aqj.3	+	2	743	c.445G>A	c.(445-447)Gag>Aag	p.E149K	SMAD3_uc010ujr.2_Missense_Mutation_p.E44K|SMAD3_uc010ujs.2_Missense_Mutation_p.E105K|SMAD3_uc010ujt.2_5'Flank	NM_005902	NP_001138576	P84022	SMAD3_HUMAN	Homo sapiens SMAD family member 3 (SMAD3), transcript variant 1, mRNA.	149	Linker.				SMAD protein complex assembly|activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	R-SMAD binding|RNA polymerase II activating transcription factor binding|beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		GATCCCGGCCGAGTTCCCCCC	0.602													54	71					0	0	1	0	0	A	67457635	G	A	67457635	3	1	29	1	0	0	0	0	1	0	0	0	14759	1059	37	2	533	2	SMAD3	15	67457635	Missense_Mutation	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08	5201513	67457635	35073757	21	1196											
CES3	23491	broad.mit.edu	37	chr16	67006756	67006756	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcattcattcctcccacccaGggaccccaatagcaaggctc	10	8	6	17	0	2	0	2	0	0	0	5	1	4	1	5	2	1	2	5	2	3	3			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr16:67006756G>A	uc002eqt.3	+	13	1600	c.1521_splice	c.e13-1	p.G507_splice	CES3_uc010cdz.3_Splice_Site_p.G504_splice|CES3_uc010viw.2_Splice_Site_p.G146_splice	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA.	507						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		CTCCCACCCAGGGACCCCAAT	0.602													26	37					0	0	1	0	0	A	67006756	G	A	67006756	5	1	29	1	0	0	0	0	0	0	1	0	3271	1014	35	3	1570	3	CES3	16	67006756	Splice_Site	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08		67006756	23347997	22	1197											
THAP11	57215	broad.mit.edu	37	chr16	67876787	67876787	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcaacagcagcaGcagcagcaacagcagcaaca	17	0	10	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	10	0	0	3	0			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr16:67876787G>A	uc002euo.3	+	0	575	c.330G>A	c.(328-330)caG>caA	p.Q110Q	CENPT_uc002eun.4_Intron	NM_020457	NP_065190	Q96EK4	THA11_HUMAN	Homo sapiens THAP domain containing 11 (THAP11), mRNA.	110	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		aacagcagcagcagcagcaac	0.682													6	32					0	0	1	0	0	A	67876787	G	A	67876787	2	1	29	1	0	0	0	0	0	0	0	1	15840	962	34	3		3	THAP11	16	67876787	Silent	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08	870031	67876787	22477966	23	1198											
TP53	7157	broad.mit.edu	37	chr17	7577141	7577141	+	Missense_Mutation	SNP	C	C	T																															gcacctcaaagctgttccgtCccagtagattaccactactc																										TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr17:7577141C>T	uc002gim.2	-	7	991	c.797G>A	c.(796-798)gGa>gAa	p.G266E	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.G266E|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G134E|TP53_uc010cnf.1_Missense_Mutation_p.G134E|TP53_uc002gii.1_Missense_Mutation_p.G134E|TP53_uc010cni.1_Missense_Mutation_p.G266E|TP53_uc010cnh.1_Missense_Mutation_p.G266E|TP53_uc002gij.2_Missense_Mutation_p.G266E|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.	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G266E(99)|p.G266V(78)|p.G266R(45)|p.L265P(15)|p.G266*(13)|p.G266fs*79(8)|p.0?(8)|p.G262_F270delGNLLGRNSF(4)|p.G266A(4)|p.L265R(4)|p.G262_S269delGNLLGRNS(4)|p.G266_E271delGRNSFE(4)|p.L265M(4)|p.L265fs*80(3)|p.?(3)|p.L265L(3)|p.G266T(2)|p.G266_N268delGRN(2)|p.G266G(2)|p.L265_R267delLGR(2)|p.L265_K305del41(2)|p.G266fs*4(2)|p.L265del(2)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265fs*81(1)|p.264_265insSSGNL(1)|p.G262fs*2(1)|p.L265Q(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)		GCTGTTCCGTCCCAGTAGATT	0.517		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)			3	0					0	0	1	0	0	T	7577141	C	T	7577141	3	4	29	1	0	0	0	0	1	0	0	0	16378	855	30	3	489	3	TP53	17	7577141	Missense_Mutation	SNP	C	TCGA-DB-A4X9-01A-11D-A26M-08		7577141	73618069	24	1199	3	3									
TP53	7157	broad.mit.edu	37	chr17	7577142	7577142	+	Missense_Mutation	SNP	C	C	T																															cacctcaaagctgttccgtcCcagtagattaccactactca																										TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr17:7577142C>T	uc002gim.2	-	7	990	c.796G>A	c.(796-798)Gga>Aga	p.G266R	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.G266R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G134R|TP53_uc010cnf.1_Missense_Mutation_p.G134R|TP53_uc002gii.1_Missense_Mutation_p.G134R|TP53_uc010cni.1_Missense_Mutation_p.G266R|TP53_uc010cnh.1_Missense_Mutation_p.G266R|TP53_uc002gij.2_Missense_Mutation_p.G266R|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.	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G266R(91)|p.G266E(49)|p.G266V(36)|p.G266*(27)|p.L265P(15)|p.0?(8)|p.G266fs*79(7)|p.G262_F270delGNLLGRNSF(4)|p.G262_S269delGNLLGRNS(4)|p.L265R(4)|p.L265M(4)|p.L265fs*80(3)|p.?(3)|p.G266_E271delGRNSFE(3)|p.L265L(3)|p.G266T(2)|p.G266_N268delGRN(2)|p.G266G(2)|p.G266fs*9(2)|p.G266A(2)|p.L265_R267delLGR(2)|p.L265_K305del41(2)|p.L265del(2)|p.E258fs*71(1)|p.L265fs*81(1)|p.264_265insSSGNL(1)|p.G262fs*2(1)|p.G266fs*4(1)|p.N263fs*5(1)|p.L265Q(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)		CTGTTCCGTCCCAGTAGATTA	0.517		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)			3	0					0	0	1	0	0	T	7577142	C	T	7577142	3	4	29	1	0	0	0	0	1	0	0	0	16378	632	22	3	490	3	TP53	17	7577142	Missense_Mutation	SNP	C	TCGA-DB-A4X9-01A-11D-A26M-08	1	7577142	73618068	25	1200	3	3									
TP53	7157	broad.mit.edu	37	chr17	7577143	7577143	+	Silent	SNP	C	C	T																															acctcaaagctgttccgtccCagtagattaccactactcag																										TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr17:7577143C>T	uc002gim.2	-	7	989	c.795G>A	c.(793-795)ctG>ctA	p.L265L	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Silent_p.L265L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Silent_p.L133L|TP53_uc010cnf.1_Silent_p.L133L|TP53_uc002gii.1_Silent_p.L133L|TP53_uc010cni.1_Silent_p.L265L|TP53_uc010cnh.1_Silent_p.L265L|TP53_uc002gij.2_Silent_p.L265L|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.	265	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		L -> M (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.L265P(16)|p.0?(8)|p.L264L(5)|p.L265L(5)|p.G262_F270delGNLLGRNSF(4)|p.L264fs*81(4)|p.L264del(4)|p.G262_S269delGNLLGRNS(4)|p.L265R(4)|p.L265M(4)|p.L265fs*80(3)|p.L264I(3)|p.?(3)|p.L265_R267delLGR(2)|p.L265_K305del41(2)|p.L265del(2)|p.264_265insSSGNL(1)|p.E258fs*71(1)|p.L265fs*81(1)|p.G262fs*2(1)|p.L264V(1)|p.L264P(1)|p.L264R(1)|p.S261_L264>R(1)|p.N263fs*5(1)|p.L265Q(1)|p.G266fs*9(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)		TGTTCCGTCCCAGTAGATTAC	0.522		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)			3	0					0	0	1	0	0	T	7577143	C	T	7577143	2	4	29	1	0	0	0	0	0	0	0	1	16378	581	21	3		3	TP53	17	7577143	Silent	SNP	C	TCGA-DB-A4X9-01A-11D-A26M-08	1	7577143	73618067	26	1201	3	3									
KRT34	3885	broad.mit.edu	37	chr17	39535942	39535942	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggcagtgtccacctccacGttgaggcggtctccaagctg	6	8	14	13	2	1	1	0	1	1	0	4	1	3	1	4	4	1	3	4	4	1	1	rs144246640	byFrequency	TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr17:39535942G>A	uc002hwm.3	-	3	768	c.756C>T	c.(754-756)aaC>aaT	p.N252N		NM_021013	NP_066293	O76011	KRT34_HUMAN	Homo sapiens keratin 34 (KRT34), mRNA.	252	Linker 12.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CCACCTCCACGTTGAGGCGGT	0.557													11	16					0	0	1	0	0	A	39535942	G	A	39535942	2	1	29	1	0	0	0	0	0	0	0	1	8471	1136	40	1		1	KRT34	17	39535942	Silent	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08	31958799	39535942	41659268	27	1202											
NETO1	81832	broad.mit.edu	37	chr18	70526115	70526116	+	Frame_Shift_Ins	INS	-	-	A																															gattccagctctccatcagcINSaaaaaatttaatccatagaa																										TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr18:70526115_70526116insA	uc002lkw.3	-	3	698_699	c.414_415insT	c.(412-417)tttgctfs	p.F138fs	NETO1_uc002lky.2_Frame_Shift_Ins_p.F138fs|NETO1_uc002lkz.3_Frame_Shift_Ins_p.F137fs	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	138	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.A139D(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TCTCCATCAGCAAAAAATTTAA	0.342													14	21	---	---	---	---						A	70526116	-	A	70526115	7	5	29	1	0	1	1	0	0	0	0	0	10339	710	25	0	1223	0	NETO1	18	70526115	Frame_Shift_Ins	INS	-	TCGA-DB-A4X9-01A-11D-A26M-08		70526115	7551133	28	1203											
REXO1	57455	broad.mit.edu	37	chr19	1828027	1828027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggggccgcttggcggccCgctcatcccgggagctggcc	2	5	16	18	5	1	0	1	0	0	0	2	1	2	1	5	6	1	3	5	6	0	1			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr19:1828027C>T	uc002lua.4	-	1	856	c.761G>A	c.(760-762)cGg>cAg	p.R254Q	REXO1_uc010dsr.1_Missense_Mutation_p.R208Q	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	254						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		CTTGGCGGCCCGCTCATCCCG	0.652													9	14					0	0	1	0	0	T	1828027	C	T	1828027	3	4	29	1	0	0	0	0	1	0	0	0	13241	652	23	2	2964	2	REXO1	19	1828027	Missense_Mutation	SNP	C	TCGA-DB-A4X9-01A-11D-A26M-08		1828027	57300956	29	1204											
ZNF414	84330	broad.mit.edu	37	chr19	8576741	8576741	+	Frame_Shift_Del	DEL	C	C	-																															gggcggctctcggtccagggCcgggggtggcggcggggctg																										TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr19:8576741delC	uc002mke.4	-	4	752	c.634delG	c.(634-636)gccfs	p.A212fs	ZNF414_uc010dwf.3_Frame_Shift_Del_p.A201fs|ZNF414_uc002mkf.3_Frame_Shift_Del_p.A212fs	NM_001146175	NP_001139647	Q96IQ9	ZN414_HUMAN	Homo sapiens zinc finger protein 414 (ZNF414), transcript variant 1, mRNA.	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(2)	2						CGGTCCAGGGCCGGGGGTGGC	0.731													2	4	---	---	---	---						-	8576741	C	-	8576741	7	5	29	1	0	1	0	1	0	0	0	0	17888	739	26	0	568	0	ZNF414	19	8576741	Frame_Shift_Del	DEL	C	TCGA-DB-A4X9-01A-11D-A26M-08	6748714	8576741	50552242	30	1205											
RHPN2	85415	broad.mit.edu	37	chr19	33535237	33535237	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctctttgattctgcaattTactccggccggtttgtgcaa	7	15	9	10	2	2	1	0	1	2	0	3	1	3	1	2	2	4	4	2	2	3	5			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr19:33535237T>C	uc002nuf.3	-	1	169	c.103A>G	c.(103-105)Aaa>Gaa	p.K35E	RHPN2_uc010xro.2_5'UTR	NM_033103	NP_149094	Q8IUC4	RHPN2_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 2 (RHPN2), mRNA.	35					signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TTCTGCAATTTACTCCGGCCG	0.483													16	25					0	0	1	0	0	C	33535237	T	C	33535237	3	2	29	1	0	0	0	0	1	0	0	0	13351	1763	61	3	2013	3	RHPN2	19	33535237	Missense_Mutation	SNP	T	TCGA-DB-A4X9-01A-11D-A26M-08	24958496	33535237	25593746	31	1206											
FAM9B	171483	broad.mit.edu	37	chrX	8993591	8993591	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgtcttcatcggaaaaaaCtctgtcacaaaggtcttcaa	14	11	6	10	1	6	0	3	0	3	0	7	1	6	1	0	2	1	0	0	2	5	2			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chrX:8993591C>A	uc004csh.3	-	6	835	c.646G>T	c.(646-648)Gtt>Ttt	p.V216F	FAM9B_uc011mhu.2_Missense_Mutation_p.V176F			Q8IZU0	FAM9B_HUMAN	Homo sapiens family with sequence similarity 9, member B (FAM9B), mRNA.	176						nucleus				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				TCGGAAAAAACTCTGTCACAA	0.328													11	16					5.16669e-11	5.41872e-11	1	1	0	A	8993591	C	A	8993591	3	1	29	1	0	0	0	0	1	0	0	0	5660	565	20	5	38	5	FAM9B	23	8993591	Missense_Mutation	SNP	C	TCGA-DB-A4X9-01A-11D-A26M-08		8993591	146276969	32	1207											
MORC4	79710	broad.mit.edu	37	chrX	106185949	106185949	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgggttccaggattcaacTgcttttcgtctctcagcaag	8	13	9	11	1	3	0	2	0	1	0	6	1	4	1	1	2	3	3	1	2	2	4			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chrX:106185949T>A	uc004emu.4	-	14	2447	c.2172A>T	c.(2170-2172)gcA>gcT	p.A724A	MORC4_uc004emp.4_Intron|MORC4_uc004emv.4_Silent_p.A724A|MORC4_uc004emw.4_Silent_p.A472A	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	Homo sapiens MORC family CW-type zinc finger 4 (MORC4), transcript variant 1, mRNA.	724							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						AGGATTCAACTGCTTTTCGTC	0.512													41	58					0	0	1	0	0	A	106185949	T	A	106185949	2	1	29	1	0	0	0	0	0	0	0	1	9704	1567	55	5		5	MORC4	23	106185949	Silent	SNP	T	TCGA-DB-A4X9-01A-11D-A26M-08	97192358	106185949	49084611	33	1208											
SASH3	54440	broad.mit.edu	37	chrX	128926408	128926408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgggcacgagtccacaccGacttcactcccagcccctat	8	6	8	19	3	1	0	1	0	0	0	3	2	3	0	6	1	1	1	6	1	1	2			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chrX:128926408G>A	uc004euu.3	+	4	729	c.547G>A	c.(547-549)Gac>Aac	p.D183N	SASH3_uc011muo.1_Missense_Mutation_p.D100N	NM_018990	NP_061863	O75995	SASH3_HUMAN	Homo sapiens SAM and SH3 domain containing 3 (SASH3), mRNA.	183	SH3.									breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						AGTCCACACCGACTTCACTCC	0.622													24	145					0	0	1	0	0	A	128926408	G	A	128926408	3	1	29	1	0	0	0	0	1	0	0	0	13849	1058	37	2	565	2	SASH3	23	128926408	Missense_Mutation	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08	22740459	128926408	26344152	34	1209											
ARID1A	8289	broad.mit.edu	37	chr1	27057668	27057668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccttatggacaacaaggccCcagcgggtatggtcaacagg	11	7	12	11	1	1	0	1	0	0	0	2	1	2	1	3	5	3	1	3	5	5	2			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr1:27057668C>T	uc001bmv.1	+	2	1749	c.1376C>T	c.(1375-1377)cCc>cTc	p.P459L	ARID1A_uc001bmt.1_Missense_Mutation_p.P459L|ARID1A_uc001bmu.1_Missense_Mutation_p.P459L|ARID1A_uc001bmw.1_Missense_Mutation_p.P76L	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	459					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAACAAGGCCCCAGCGGGTAT	0.502			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								56	49					0	0	1	0	0	T	27057668	C	T	27057668	3	4	30	1	0	0	0	0	1	0	0	0	913	623	22	3	1386	3	ARID1A	1	27057668	Missense_Mutation	SNP	C	TCGA-DB-A4XA-01A-11D-A26M-08		27057668	222192953	1	1210											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								12	31					0	0	1	0	0	T	209113112	C	T	209113112	3	4	30	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A4XA-01A-11D-A26M-08		209113112	34086261	2	1211											
COL6A6	131873	broad.mit.edu	37	chr3	130287370	130287371	+	Frame_Shift_Ins	INS	-	-	T																															cagtgggaggcccgagatggINSttttttatgttgagaatttt																										TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr3:130287370_130287371insT	uc010htl.3	+	4	2354_2355	c.2323_2324insT	c.(2323-2325)gttfs	p.V775fs		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	775	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCCCGAGATGGTTTTTTATGTT	0.47													9	39	---	---	---	---						T	130287371	-	T	130287370	7	5	30	1	0	1	1	0	0	0	0	0	3703	1261	44	0	2341	0	COL6A6	3	130287370	Frame_Shift_Ins	INS	-	TCGA-DB-A4XA-01A-11D-A26M-08		130287370	67735060	3	1212											
ANXA3	306	broad.mit.edu	37	chr4	79531254	79531254	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacactcttaaaaatctgTggtggagatgactgaaccaa	15	10	8	8	0	3	3	1	2	2	1	3	4	3	3	1	2	1	0	1	2	5	1			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr4:79531254T>C	uc003hld.3	+	12	1267	c.957T>C	c.(955-957)tgT>tgC	p.C319C		NM_005139	NP_005130	P12429	ANXA3_HUMAN	Homo sapiens annexin A3 (ANXA3), mRNA.	319					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TAAAAATCTGTGGTGGAGATG	0.378													3	20					0	0	1	0	0	C	79531254	T	C	79531254	2	2	30	1	0	0	0	0	0	0	0	1	719	1702	59	3		3	ANXA3	4	79531254	Silent	SNP	T	TCGA-DB-A4XA-01A-11D-A26M-08		79531254	111623022	4	1213											
OSMR	9180	broad.mit.edu	37	chr5	38932056	38932056	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggtcatgtgctacttgAaaagtcagtggtaagtgtgt	10	14	12	5	0	3	1	3	1	0	0	3	1	3	1	0	2	2	2	0	2	4	3			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr5:38932056A>G	uc003jln.2	+	15	2686	c.2284A>G	c.(2284-2286)Aaa>Gaa	p.K762E	OSMR_uc011cpj.2_Intron	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	762					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity	p.L761L(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GTGCTACTTGAAAAGTCAGTG	0.388													4	45					0	0	1	0	0	G	38932056	A	G	38932056	3	3	30	1	0	0	0	0	1	0	0	0	11292	247	9	3	2380	3	OSMR	5	38932056	Missense_Mutation	SNP	A	TCGA-DB-A4XA-01A-11D-A26M-08		38932056	141983204	5	1214											
RNF44	22838	broad.mit.edu	37	chr5	175957618	175957618	+	Frame_Shift_Del	DEL	G	G	-																															ctcctggtgcagcggatcgtGgggcaggtagtgcaggggca																										TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr5:175957618delG	uc003mek.1	-	5	1291	c.766delC	c.(766-768)cacfs	p.H256fs	RNF44_uc011dfo.1_Frame_Shift_Del_p.H164fs|RNF44_uc003mel.1_5'Flank	NM_014901	NP_055716	Q7L0R7	RNF44_HUMAN	Homo sapiens ring finger protein 44 (RNF44), mRNA.	256	Pro-rich.						zinc ion binding			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCGGATCGTGGGGCAGGTAG	0.706													2	4	---	---	---	---						-	175957618	G	-	175957618	7	5	30	1	0	1	0	1	0	0	0	0	13496	1348	47	0	556	0	RNF44	5	175957618	Frame_Shift_Del	DEL	G	TCGA-DB-A4XA-01A-11D-A26M-08	137025562	175957618	4957642	6	1215											
SYNJ2	8871	broad.mit.edu	37	chr6	158507947	158507947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtcggggagttccgccaccGttctccgagcaggtctctgt	4	10	13	14	5	2	0	0	0	2	0	6	2	3	1	4	3	1	3	4	3	0	2	rs141300011		TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr6:158507947G>A	uc003qqx.2	+	22	3375	c.3269G>A	c.(3268-3270)cGt>cAt	p.R1090H	SYNJ2_uc003qqw.2_Missense_Mutation_p.R1090H|SYNJ2_uc003qqy.2_Missense_Mutation_p.R853H|SYNJ2_uc003qqz.2_Missense_Mutation_p.R707H|SYNJ2_uc003qra.2_Missense_Mutation_p.R433H	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	1090							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TTCCGCCACCGTTCTCCGAGC	0.642													9	34					0	0	1	0	0	A	158507947	G	A	158507947	3	1	30	1	0	0	0	0	1	0	0	0	15450	1145	40	1	3359	1	SYNJ2	6	158507947	Missense_Mutation	SNP	G	TCGA-DB-A4XA-01A-11D-A26M-08		158507947	12607120	7	1216											
HMX3	340784	broad.mit.edu	37	chr10	124895618	124895620	+	In_Frame_Del	DEL	CCG	CCG	-																															ccgccagcgcacagccccaaCcgccgccgccccccccaccc																										TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr10:124895618_124895620delCCG	uc010quc.2	+	0	52_54	c.52_54delCCG	c.(52-54)ccgdel	p.P24del		NM_001105574	NP_001099044	A6NHT5	HMX3_HUMAN	Homo sapiens H6 family homeobox 3 (HMX3), mRNA.	24	Pro-rich.				cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		ACAGCCCCAACCGCCGCCGCCCC	0.754													2	4	---	---	---	---						-	124895620	CCG	-	124895618	7	5	30	1	0	1	0	1	0	0	0	0	7248	507	18	0	54	0	HMX3	10	124895618	In_Frame_Del	DEL	CCG	TCGA-DB-A4XA-01A-11D-A26M-08		124895618	10639129	8	1217											
DDB2	1643	broad.mit.edu	37	chr11	47256422	47256422	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtgaaaatttgggacctgCgccaggttagagggaaagcc	12	7	14	8	1	0	2	0	1	0	1	0	4	0	4	3	3	2	1	3	3	4	2			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr11:47256422C>T	uc001neb.2	+	5	1012	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	DDB2_uc001nec.2_Intron|DDB2_uc009yli.1_Missense_Mutation_p.R209C|DDB2_uc001ned.2_Intron|DDB2_uc001nee.2_Intron|DDB2_uc001nef.2_Intron	NM_000107	NP_000098	Q92466	DDB2_HUMAN	Homo sapiens damage-specific DNA binding protein 2, 48kDa (DDB2), mRNA.	273			R -> H (in XP-E; impairs interaction with DDB1 and CUL4A).		nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						TTGGGACCTGCGCCAGGTTAG	0.537			"Mis, N"			"skin basal cell, skin squamous cell, melanoma"		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum				10	23					0	0	1	0	0	T	47256422	C	T	47256422	3	4	30	1	0	0	0	0	1	0	0	0	4324	768	27	1	839	1	DDB2	11	47256422	Missense_Mutation	SNP	C	TCGA-DB-A4XA-01A-11D-A26M-08		47256422	87750094	9	1218											
KCNJ1	3758	broad.mit.edu	37	chr11	128709265	128709265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgggacataggatgtccGgacttggcaggtagcactgg	8	9	15	9	1	1	0	0	0	1	0	2	3	2	3	1	6	1	3	1	6	2	3			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr11:128709265G>A	uc001qeo.1	-	1	982	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W	KCNJ1_uc001qep.1_Missense_Mutation_p.R292W|KCNJ1_uc001qeq.1_Missense_Mutation_p.R292W|KCNJ1_uc001qer.1_Missense_Mutation_p.R292W|KCNJ1_uc001qes.1_Missense_Mutation_p.R292W|KCNJ1_uc021qsb.1_Missense_Mutation_p.R292W	NM_000220	NP_000211	P48048	IRK1_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1 (KCNJ1), transcript variant rom-k1, mRNA.	311					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	TAGGATGTCCGGACTTGGCAG	0.498													4	40					0	0	1	0	0	A	128709265	G	A	128709265	3	1	30	1	0	0	0	0	1	0	0	0	8043	1115	39	2	248	2	KCNJ1	11	128709265	Missense_Mutation	SNP	G	TCGA-DB-A4XA-01A-11D-A26M-08	81452843	128709265	6297251	10	1219											
AGBL1	123624	broad.mit.edu	37	chr15	87097705	87097705	+	Frame_Shift_Del	DEL	G	G	-																															gtggtggtgtggagagagatGggggtgtccagaagctacac																										TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr15:87097705delG	uc002blz.1	+	19	2873	c.2793delG	c.(2791-2793)atgfs	p.M931fs		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	931					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.M931T(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GGAGAGAGATGGGGGTGTCCA	0.547													2	4	---	---	---	---						-	87097705	G	-	87097705	7	5	30	1	0	1	0	1	0	0	0	0	375	1348	47	0	2867	0	AGBL1	15	87097705	Frame_Shift_Del	DEL	G	TCGA-DB-A4XA-01A-11D-A26M-08		87097705	15433687	11	1220											
GRIN2A	2903	broad.mit.edu	37	chr16	9857512	9857512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctagctccctaggtttgtCgacaatgttatcgtaggaat	9	14	10	8	2	1	0	0	0	1	0	4	2	2	1	1	2	1	4	1	2	6	5			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr16:9857512C>T	uc010uym.2	-	13	4199	c.3889G>A	c.(3889-3891)Gac>Aac	p.D1297N	GRIN2A_uc002czo.4_Missense_Mutation_p.D1297N|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1297					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTAGGTTTGTCGACAATGTTA	0.507													9	58					0	0	1	0	0	T	9857512	C	T	9857512	3	4	30	1	0	0	0	0	1	0	0	0	6779	884	31	2	509	2	GRIN2A	16	9857512	Missense_Mutation	SNP	C	TCGA-DB-A4XA-01A-11D-A26M-08		9857512	80497241	12	1221											
EFCAB3	146779	broad.mit.edu	37	chr17	60484520	60484520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agatgctaagaataaaggagCctttgcatttctttgaggat	13	13	10	5	0	1	3	0	1	1	2	1	5	1	5	1	2	3	2	1	2	4	5	rs115042128	byFrequency	TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr17:60484520C>T	uc010wpc.2	+	9	1041	c.970C>T	c.(970-972)Cct>Tct	p.P324S	EFCAB3_uc002izu.2_Missense_Mutation_p.P272S	NM_001144933	NP_001138405	Q8N7B9	EFCB3_HUMAN	Homo sapiens EF-hand calcium binding domain 3 (EFCAB3), transcript variant 1, mRNA.	272							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			AATAAAGGAGCCTTTGCATTT	0.348													9	37					0	0	1	0	0	T	60484520	C	T	60484520	3	4	30	1	0	0	0	0	1	0	0	0	4935	739	26	3	1008	3	EFCAB3	17	60484520	Missense_Mutation	SNP	C	TCGA-DB-A4XA-01A-11D-A26M-08		60484520	20710690	13	1222											
AATK	9625	broad.mit.edu	37	chr17	79094025	79094025	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagaggtagacggtgacGtcgtcgaagaaggacacggc	13	5	15	8	5	1	4	1	1	0	3	3	6	1	5	0	4	0	1	0	4	4	1			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr17:79094025G>A	uc010dia.3	-	10	3791	c.3711C>T	c.(3709-3711)gaC>gaT	p.D1237D	AATK_uc010dhz.3_Non-coding_Transcript|AATK_uc021ueu.1_Silent_p.D1134D	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	Homo sapiens apoptosis-associated tyrosine kinase (AATK), transcript variant 1, mRNA.	1237						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AGACGGTGACGTCGTCGAAGA	0.697													16	36					0	0	1	0	0	A	79094025	G	A	79094025	2	1	30	1	0	0	0	0	0	0	0	1	26	1136	40	1		1	AATK	17	79094025	Silent	SNP	G	TCGA-DB-A4XA-01A-11D-A26M-08	18609505	79094025	2101185	14	1223											
MUC16	94025	broad.mit.edu	37	chr19	9082732	9082732	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataggcttatgggagaggaaCtagaaccagaccttgctgct	12	9	12	8	0	0	3	0	0	0	3	0	5	0	4	2	3	4	3	2	3	5	4	rs139519759	by1000genomes	TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr19:9082732C>A	uc002mkp.3	-	0	9287	c.9083G>T	c.(9082-9084)aGt>aTt	p.S3028I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3029	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGAGAGGAACTAGAACCAGA	0.488													22	30					5.26018e-13	5.84464e-13	1	1	0	A	9082732	C	A	9082732	3	1	30	1	0	0	0	0	1	0	0	0	9973	565	20	5	34776	5	MUC16	19	9082732	Missense_Mutation	SNP	C	TCGA-DB-A4XA-01A-11D-A26M-08		9082732	50046251	15	1224											
CIC	23152	broad.mit.edu	37	chr19	42791822	42791824	+	In_Frame_Del	DEL	GTG	GTG	-																															gtcagcaagatcctgggcgaGtggtggtatgccctggggcc																										TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr19:42791822_42791824delGTG	uc002otf.1	+	4	748_750	c.708_710delGTG	c.(706-711)gagtgg>gag	p.W238del		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TCCTGGGCGAGTGGTGGTATGCC	0.611			"Mis, F, S"		oligodendroglioma								12	47	---	---	---	---						-	42791824	GTG	-	42791822	7	5	30	1	0	1	0	1	0	0	0	0	3424	1020	36	0	726	0	CIC	19	42791822	In_Frame_Del	DEL	GTG	TCGA-DB-A4XA-01A-11D-A26M-08	33709090	42791822	16337161	16	1225											
CSMD2	114784	broad.mit.edu	37	chr1	34034977	34034977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagaggtcacttaccaaGgcagcggacttcagagccac	11	6	11	13	1	2	2	2	0	0	2	2	3	2	3	2	3	4	2	2	3	2	2	rs143459383		TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr1:34034977G>A	uc001bxm.1	-	51	8305	c.8128C>T	c.(8128-8130)Ctt>Ttt	p.L2710F	CSMD2_uc001bxn.1_Missense_Mutation_p.L2712F	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2712	Sushi 17.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACTTACCAAGGCAGCGGACT	0.502													17	36					0	0	1	0	0	A	34034977	G	A	34034977	3	1	31	1	0	0	0	0	1	0	0	0	3945	1000	35	3	2397	3	CSMD2	1	34034977	Missense_Mutation	SNP	G	TCGA-DB-A4XB-01A-11D-A26M-08		34034977	215215644	1	1226											
OR2M3	127062	broad.mit.edu	37	chr1	248366912	248366912	+	Frame_Shift_Del	DEL	C	C	-																															gcccacttcttctgtgacttCccctccctactaatcctctc																										TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr1:248366912delC	uc010pzg.2	+	0	543	c.543delC	c.(541-543)ttcfs	p.F181fs		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTGTGACTTCCCCTCCCTAC	0.423													42	144	---	---	---	---						-	248366912	C	-	248366912	7	5	31	1	0	1	0	1	0	0	0	0	11011	854	30	0	545	0	OR2M3	1	248366912	Frame_Shift_Del	DEL	C	TCGA-DB-A4XB-01A-11D-A26M-08	214331935	248366912	883709	2	1227											
HADHA	3030	broad.mit.edu	37	chr2	26437420	26437420	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatggaatagtcatggcataCgctgtcaattctgtaaaata	15	12	8	6	1	3	0	2	0	1	0	3	1	3	1	0	2	1	3	0	2	8	5			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr2:26437420C>T	uc002rgy.3	-	8	940	c.810G>A	c.(808-810)gcG>gcA	p.A270A	HADHA_uc010yks.2_Silent_p.A183A|HADHA_uc010ykt.1_Silent_p.A183A	NM_000182	NP_000173	P40939	ECHA_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit (HADHA), nuclear gene encoding mitochondrial protein, mRNA.	270					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	TCATGGCATACGCTGTCAATT	0.338													5	10					0	0	1	0	0	T	26437420	C	T	26437420	2	4	31	1	0	0	0	0	0	0	0	1	6943	523	19	1		1	HADHA	2	26437420	Silent	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08		26437420	216761953	3	1228											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								8	17					0	0	1	0	0	T	209113112	C	T	209113112	3	4	31	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08	182675692	209113112	34086261	4	1229											
SLC19A3	80704	broad.mit.edu	37	chr2	228563995	228563995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtaggcggccagcgtgaCgctcctgcagtagccgctca	6	8	14	13	4	1	1	1	1	0	0	2	1	2	1	3	2	3	5	3	2	2	2	rs147502239	byFrequency	TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr2:228563995C>T	uc002vpi.3	-	2	525	c.436G>A	c.(436-438)Gtc>Atc	p.V146I	SLC19A3_uc002vpj.3_Non-coding_Transcript|SLC19A3_uc010zlv.1_Missense_Mutation_p.V142I	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN	Homo sapiens solute carrier family 19, member 3 (SLC19A3), mRNA.	146					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	GCCAGCGTGACGCTCCTGCAG	0.592													57	86					0	0	1	0	0	T	228563995	C	T	228563995	3	4	31	1	0	0	0	0	1	0	0	0	14430	536	19	1	1070	1	SLC19A3	2	228563995	Missense_Mutation	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08	19450883	228563995	14635378	5	1230											
SCLY	51540	broad.mit.edu	37	chr2	239002577	239002577	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcgactacctggaagagAggctggaagtgagcgcagcg	10	5	16	10	4	0	2	0	1	0	1	1	6	1	4	2	3	3	2	2	3	3	1			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr2:239002577A>G	uc010fyv.3	+	8	1128	c.997A>G	c.(997-999)Agg>Ggg	p.R333G	SCLY_uc002vxm.4_Missense_Mutation_p.R300G|SCLY_uc010znr.2_Missense_Mutation_p.R239G|SCLY_uc010znq.2_Missense_Mutation_p.R127G	NM_016510	NP_057594	Q96I15	SCLY_HUMAN	Homo sapiens selenocysteine lyase (SCLY), mRNA.	333					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		CCTGGAAGAGAGGCTGGAAGT	0.672													11	10					0	0	1	0	0	G	239002577	A	G	239002577	3	3	31	1	0	0	0	0	1	0	0	0	13907	295	11	4	1031	4	SCLY	2	239002577	Missense_Mutation	SNP	A	TCGA-DB-A4XB-01A-11D-A26M-08	10438582	239002577	4196796	6	1231											
CNTN4	152330	broad.mit.edu	37	chr3	2924865	2924865	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcccaaaatagaagtgcAgttcccagaaacagttccga	15	7	9	10	1	0	3	0	1	0	2	2	4	2	3	3	0	3	3	3	0	5	3			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr3:2924865A>G	uc003bpc.3	+	8	1028	c.689A>G	c.(688-690)cAg>cGg	p.Q230R	CNTN4_uc003bpb.1_Intron|CNTN4_uc021wsg.1_Missense_Mutation_p.Q230R|CNTN4_uc003bpd.1_Missense_Mutation_p.Q230R	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	230	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATAGAAGTGCAGTTCCCAGAA	0.408													13	17					0	0	1	0	0	G	2924865	A	G	2924865	3	3	31	1	0	0	0	0	1	0	0	0	3643	188	7	4	711	4	CNTN4	3	2924865	Missense_Mutation	SNP	A	TCGA-DB-A4XB-01A-11D-A26M-08		2924865	195097565	7	1232											
ECT2	1894	broad.mit.edu	37	chr3	172472415	172472415	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttactgagatttccaaggAaaacttacttattggatcta	14	14	7	6	0	1	1	0	1	1	1	2	4	2	3	1	2	3	1	1	2	7	6			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr3:172472415A>T	uc003fii.2	+	1	233	c.95A>T	c.(94-96)gAa>gTa	p.E32V	ECT2_uc010hwv.1_Missense_Mutation_p.E32V|ECT2_uc003fih.2_Missense_Mutation_p.E32V|ECT2_uc003fij.1_Missense_Mutation_p.E32V|ECT2_uc003fik.1_Missense_Mutation_p.E32V|ECT2_uc003fil.1_Missense_Mutation_p.E32V	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene (ECT2), mRNA.	32					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			ATTTCCAAGGAAAACTTACTT	0.323													3	11					0	0	1	0	0	T	172472415	A	T	172472415	3	4	31	1	0	0	0	0	1	0	0	0	4901	246	9	5	97	5	ECT2	3	172472415	Missense_Mutation	SNP	A	TCGA-DB-A4XB-01A-11D-A26M-08	169547550	172472415	25550015	8	1233											
SDHA	6389	broad.mit.edu	37	chr5	218471	218471	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcggcggcaacagcagacAtgtcgggggtccggggcctg	6	4	19	12	5	0	1	0	0	0	1	2	1	1	1	2	6	2	2	2	6	1	0	rs1061517		TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr5:218471A>G	uc011clv.1	+	0	116	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	CCDC127_uc003jam.1_5'Flank|SDHA_uc003jao.4_Missense_Mutation_p.M1V|SDHA_uc011clw.2_Missense_Mutation_p.M1V	NM_004168	NP_004159	P31040	DHSA_HUMAN	Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (SDHA), nuclear gene encoding mitochondrial protein, mRNA.	1					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	AACAGCAGACATGTCGGGGGT	0.776									Familial Paragangliomas				10	16					0	0	1	0	0	G	218471	A	G	218471	3	3	31	1	0	0	0	0	1	0	0	0	13963	217	8	3	3	3	SDHA	5	218471	Missense_Mutation	SNP	A	TCGA-DB-A4XB-01A-11D-A26M-08		218471	180696789	9	1234											
LIFR	3977	broad.mit.edu	37	chr5	38523540	38523540	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaattttacgagctccataCtctctttacgtagaacttta	11	16	4	10	2	1	1	0	0	1	1	3	2	2	1	1	0	5	2	1	0	7	9			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr5:38523540C>G	uc010ive.1	-	4	874	c.542G>C	c.(541-543)aGt>aCt	p.S181T	LIFR_uc003jli.2_Missense_Mutation_p.S181T	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	181					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	p.S181T(3)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GAGCTCCATACTCTCTTTACG	0.343			T	PLAG1	salivary adenoma								15	31					0	0	1	0	0	G	38523540	C	G	38523540	3	3	31	1	0	0	0	0	1	0	0	0	8780	565	20	5	2815	5	LIFR	5	38523540	Missense_Mutation	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08	38305069	38523540	142391720	10	1235											
HDGFL1	154150	broad.mit.edu	37	chr6	22570347	22570349	+	In_Frame_Del	DEL	GGC	GGC	-																															agggcggcggaagcggagagGgcggcggcggcggcggcggc																										TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr6:22570347_22570349delGGC	uc003nds.3	+	0	670_672	c.543_545delGGC	c.(541-546)agggcg>agg	p.A188del		NM_138574	NP_612641	Q5TGJ6	HDGL1_HUMAN	Homo sapiens hepatoma derived growth factor-like 1 (HDGFL1), mRNA.	188	Ala-rich.|Glu-rich.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					aagcggagagggcggcggcggcg	0.768													3	5	---	---	---	---						-	22570349	GGC	-	22570347	7	5	31	1	0	1	0	1	0	0	0	0	7019	1223	43	0	545	0	HDGFL1	6	22570347	In_Frame_Del	DEL	GGC	TCGA-DB-A4XB-01A-11D-A26M-08		22570347	148544720	11	1236											
ANKS1A	23294	broad.mit.edu	37	chr6	35048910	35048910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccatgaccctgcggcaccctCccgagcggagcgcttcagga	7	5	12	17	4	1	1	1	1	0	0	2	4	2	3	4	3	3	2	4	3	0	1			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr6:35048910C>T	uc003ojx.4	+	16	2826	c.2684C>T	c.(2683-2685)tCc>tTc	p.S895F	ANKS1A_uc011dst.2_Missense_Mutation_p.S435F|ANKS1A_uc010jvp.2_Missense_Mutation_p.S269F	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	895						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GCGGCACCCTCCCGAGCGGAG	0.657													11	26					0	0	1	0	0	T	35048910	C	T	35048910	3	4	31	1	0	0	0	0	1	0	0	0	688	855	30	3	2750	3	ANKS1A	6	35048910	Missense_Mutation	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08	12478563	35048910	136066157	12	1237											
RAB23	51715	broad.mit.edu	37	chr6	57058690	57058690	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatcctcagctatttgtTgtttgagtttctgaaggtat	7	18	10	6	0	2	2	1	2	1	0	3	3	3	3	1	2	1	5	1	2	3	6			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr6:57058690T>A	uc003pds.3	-	5	730	c.524A>T	c.(523-525)cAa>cTa	p.Q175L	RAB23_uc003pdt.3_Missense_Mutation_p.Q175L|RAB23_uc010kac.3_Missense_Mutation_p.Q175L|RAB23_uc010kad.3_Non-coding_Transcript	NM_183227	NP_899050	Q9ULC3	RAB23_HUMAN	Homo sapiens RAB23, member RAS oncogene family (RAB23), transcript variant 2, mRNA.	175					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	8	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AGCTATTTGTTGTTTGAGTTT	0.318													9	5					0	0	1	0	0	A	57058690	T	A	57058690	3	1	31	1	0	0	0	0	1	0	0	0	12910	1812	63	5	197	5	RAB23	6	57058690	Missense_Mutation	SNP	T	TCGA-DB-A4XB-01A-11D-A26M-08	22009780	57058690	114056377	13	1238											
KIAA1009	22832	broad.mit.edu	37	chr6	84913701	84913701	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tataattgatatatatacctGtttgggcacacttatttttt	11	20	5	5	0	0	1	0	1	0	0	0	1	0	1	1	1	1	2	1	1	7	12			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr6:84913701G>C	uc010kbp.3	-	6	782	c.685C>G	c.(685-687)Cag>Gag	p.Q229E	KIAA1009_uc003pkj.4_Missense_Mutation_p.Q153E|KIAA1009_uc003pkk.2_Missense_Mutation_p.Q229E	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	229					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		ATATATACCTGTTTGGGCACA	0.343													3	16					0	0	1	0	0	C	84913701	G	C	84913701	3	2	31	1	0	0	0	0	1	0	0	0	8203	1386	48	5	3610	5	KIAA1009	6	84913701	Missense_Mutation	SNP	G	TCGA-DB-A4XB-01A-11D-A26M-08	27855011	84913701	86201366	14	1239											
PLG	5340	broad.mit.edu	37	chr6	161173247	161173247	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggaagagtccaatccacCgaactctgtgctgggcattt	11	10	10	10	1	1	1	0	0	1	1	3	3	3	2	3	2	2	2	3	2	4	1			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr6:161173247C>T	uc003qtm.4	+	17	2338	c.2226C>T	c.(2224-2226)acC>acT	p.T742T		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	742	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCCAATCCACCGAACTCTGTG	0.488													21	28					0	0	1	0	0	T	161173247	C	T	161173247	2	4	31	1	0	0	0	0	0	0	0	1	12086	639	23	2		2	PLG	6	161173247	Silent	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08	76259546	161173247	9941820	15	1240											
TRRAP	8295	broad.mit.edu	37	chr7	98497374	98497374	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaacaccattgccattcagGtgtctgcacaagcgaggtga	11	9	11	10	1	2	2	1	2	1	0	2	3	2	2	2	2	4	1	2	2	2	2			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr7:98497374G>T	uc003upp.3	+	9	993	c.784G>T	c.(784-786)Gtg>Ttg	p.V262L	TRRAP_uc011kis.2_Missense_Mutation_p.V262L|TRRAP_uc003upr.3_5'Flank	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	262					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCCATTCAGGTGTCTGCACA	0.438													11	23					6.81908e-15	7.53688e-15	1	1	0	T	98497374	G	T	98497374	3	4	31	1	0	0	0	0	1	0	0	0	16598	1261	44	5	818	5	TRRAP	7	98497374	Missense_Mutation	SNP	G	TCGA-DB-A4XB-01A-11D-A26M-08		98497374	60641289	16	1241											
FLNC	2318	broad.mit.edu	37	chr7	128482972	128482972	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtacacgccaccaggggcGggccgctacaccatcatggt	10	5	12	14	3	1	0	1	0	0	0	1	0	1	0	4	4	2	2	4	4	3	2			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr7:128482972G>A	uc003vnz.4	+	15	2723	c.2514G>A	c.(2512-2514)gcG>gcA	p.A838A	FLNC_uc003voa.4_Silent_p.A838A	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	838					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CACCAGGGGCGGGCCGCTACA	0.592													18	29					0	0	1	0	0	A	128482972	G	A	128482972	2	1	31	1	0	0	0	0	0	0	0	1	5935	1103	39	2		2	FLNC	7	128482972	Silent	SNP	G	TCGA-DB-A4XB-01A-11D-A26M-08	29985598	128482972	30655691	17	1242											
PTPRD	5789	broad.mit.edu	37	chr9	8633423	8633423	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccgtaagggttgtattctGagaactgatccagacccatc	10	11	10	10	1	1	3	0	2	1	2	4	4	3	3	3	1	1	3	3	1	3	4			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr9:8633423G>A	uc003zkk.3	-	13	989	c.246C>T	c.(244-246)ctC>ctT	p.L82L	PTPRD_uc003zkp.3_Silent_p.L82L|PTPRD_uc003zkq.3_Silent_p.L82L|PTPRD_uc003zkr.3_Silent_p.L82L|PTPRD_uc003zks.3_Silent_p.L82L|PTPRD_uc022bdj.1_Silent_p.L82L|PTPRD_uc003zkt.1_Silent_p.L82L	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	82	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTTGTATTCTGAGAACTGATC	0.428										TSP Lung(15;0.13)			20	13					0	0	1	0	0	A	8633423	G	A	8633423	2	1	31	1	0	0	0	0	0	0	0	1	12799	1277	45	3		3	PTPRD	9	8633423	Silent	SNP	G	TCGA-DB-A4XB-01A-11D-A26M-08		8633423	132580008	18	1243											
KIF24	347240	broad.mit.edu	37	chr9	34256165	34256165	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctctcctaggtctgccTccctgctgggcagcttgtca	4	11	11	15	0	3	0	1	0	2	0	5	0	4	0	4	3	3	3	4	3	1	2	rs36062910		TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr9:34256165T>C	uc003zua.4	-	10	3560	c.3440A>G	c.(3439-3441)gAg>gGg	p.E1147G	KIF24_uc010mkb.3_Intron	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	Homo sapiens kinesin family member 24 (KIF24), mRNA.	1147					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TAGGTCTGCCTCCCTGCTGGG	0.572													15	23					0	0	1	0	0	C	34256165	T	C	34256165	3	2	31	1	0	0	0	0	1	0	0	0	8292	1551	54	4	678	4	KIF24	9	34256165	Missense_Mutation	SNP	T	TCGA-DB-A4XB-01A-11D-A26M-08	25622742	34256165	106957266	19	1244											
TPM2	7169	broad.mit.edu	37	chr9	35685321	35685321	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagctctccttccaggatcaCcagcttcctggccacctgtg	6	10	8	17	0	2	0	1	0	1	0	5	1	4	1	6	2	2	2	6	2	0	2			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr9:35685321C>A	uc003zxq.3	-	4	747	c.508G>T	c.(508-510)Gtg>Ttg	p.V170L	TPM2_uc003zxs.3_Missense_Mutation_p.V170L|TPM2_uc010mkz.3_Missense_Mutation_p.V170L|TPM2_uc011lpa.2_Missense_Mutation_p.V170L	NM_213674	NP_998839	P07951	TPM2_HUMAN	Homo sapiens tropomyosin 2 (beta) (TPM2), transcript variant 2, mRNA.	170					muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCCAGGATCACCAGCTTCCTG	0.627													11	26					5.50884e-06	5.50884e-06	1	1	0	A	35685321	C	A	35685321	3	1	31	1	0	0	0	0	1	0	0	0	16403	507	18	5	533	5	TPM2	9	35685321	Missense_Mutation	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08	1429156	35685321	105528110	20	1245											
HKDC1	80201	broad.mit.edu	37	chr10	71010063	71010063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagaaaggaaagtttctcGccctggatcttgggggaacc	11	8	13	9	1	2	1	0	0	2	1	3	5	2	4	2	4	1	1	2	4	3	2	rs148336562	by1000genomes	TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr10:71010063G>A	uc001jpf.4	+	10	1721	c.1588G>A	c.(1588-1590)Gcc>Acc	p.A530T	HKDC1_uc010qje.2_Missense_Mutation_p.A393T	NM_025130	NP_079406	Q2TB90	HKDC1_HUMAN	Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA.	530					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AAAGTTTCTCGCCCTGGATCT	0.547													20	180					0	0	1	0	0	A	71010063	G	A	71010063	3	1	31	1	0	0	0	0	1	0	0	0	7193	1087	38	1	1630	1	HKDC1	10	71010063	Missense_Mutation	SNP	G	TCGA-DB-A4XB-01A-11D-A26M-08		71010063	64524684	21	1246											
OR8J3	81168	broad.mit.edu	37	chr11	55904857	55904857	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccatcacagccagcatcAttacctccgatacaataaag	15	7	6	13	1	2	0	2	0	0	0	3	1	3	0	4	1	4	1	4	1	5	3			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr11:55904857A>G	uc010riz.2	-	0	338	c.338T>C	c.(337-339)aTg>aCg	p.M113T		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					AGCCAGCATCATTACCTCCGA	0.478													11	79					0	0	1	0	0	G	55904857	A	G	55904857	3	3	31	1	0	0	0	0	1	0	0	0	11242	217	8	3	611	3	OR8J3	11	55904857	Missense_Mutation	SNP	A	TCGA-DB-A4XB-01A-11D-A26M-08		55904857	79101659	22	1247											
FTH1	2495	broad.mit.edu	37	chr11	61732945	61732945	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgaagaaagtatttggCaaagttcttcaaagccacat	14	12	9	6	0	2	2	1	1	1	1	2	2	2	2	1	2	1	3	1	2	5	5			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr11:61732945C>G	uc001nsu.3	-	1	392	c.157G>C	c.(157-159)Gcc>Ccc	p.A53P		NM_002032	NP_002023	P02794	FRIH_HUMAN	Homo sapiens ferritin, heavy polypeptide 1 (FTH1), mRNA.	53	Ferritin-like diiron.				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	AAGTATTTGGCAAAGTTCTTC	0.458													29	29					0	0	1	0	0	G	61732945	C	G	61732945	3	3	31	1	0	0	0	0	1	0	0	0	6082	710	25	5	406	5	FTH1	11	61732945	Missense_Mutation	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08	5828088	61732945	73273571	23	1248											
PTPRCAP	5790	broad.mit.edu	37	chr11	67203469	67203469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgcaggccaccatccGcgacgtggtcatagtctgtg	7	8	12	14	3	2	0	1	0	1	0	3	1	3	0	4	2	2	1	4	2	1	1			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr11:67203469G>A	uc001oli.1	-	1	419	c.356C>T	c.(355-357)gCg>gTg	p.A119V		NM_005608	NP_005599	Q14761	PTCA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C-associated protein (PTPRCAP), mRNA.	119					defense response	integral to membrane|plasma membrane		p.A119T(1)		skin(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GCCACCATCCGCGACGTGGTC	0.657													10	44					0	0	1	0	0	A	67203469	G	A	67203469	3	1	31	1	0	0	0	0	1	0	0	0	12798	1087	38	1	268	1	PTPRCAP	11	67203469	Missense_Mutation	SNP	G	TCGA-DB-A4XB-01A-11D-A26M-08	5470524	67203469	67803047	24	1249											
AEBP2	121536	broad.mit.edu	37	chr12	19592913	19592913	+	Frame_Shift_Del	DEL	G	G	-																															ccgagagcgccagccaggccGgggaggacgaagacgaggag																										TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr12:19592913delG	uc001ref.2	+	0	306	c.280delG	c.(280-282)gggfs	p.G94fs	AEBP2_uc001ree.2_Frame_Shift_Del_p.G94fs|AEBP2_uc001reg.1_5'Flank	NM_001114176	NP_001107648	Q6ZN18	AEBP2_HUMAN	Homo sapiens AE binding protein 2 (AEBP2), transcript variant 2, mRNA.	94	Glu-rich.|Gly-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					CAGCCAGGCCGGggaggacga	0.741													2	4	---	---	---	---						-	19592913	G	-	19592913	7	5	31	1	0	1	0	1	0	0	0	0	350	1116	39	0	282	0	AEBP2	12	19592913	Frame_Shift_Del	DEL	G	TCGA-DB-A4XB-01A-11D-A26M-08		19592913	114258982	25	1250											
NOS1	4842	broad.mit.edu	37	chr12	117768538	117768538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttgggggtcccatcacCtgtaaaggtggtctccaggt	6	11	14	10	0	3	0	1	0	2	0	5	0	4	0	3	6	0	1	3	6	2	2			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr12:117768538C>T	uc001twn.2	-	1	1048	c.337G>A	c.(337-339)Ggt>Agt	p.G113S	NOS1_uc001twm.2_Missense_Mutation_p.G113S	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	113	Interaction with NOSIP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GTCCCATCACCTGTAAAGGTG	0.632													15	24					0	0	1	0	0	T	117768538	C	T	117768538	3	4	31	1	0	0	0	0	1	0	0	0	10541	681	24	3	4079	3	NOS1	12	117768538	Missense_Mutation	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08	98175625	117768538	16083357	26	1251											
FAM155A	728215	broad.mit.edu	37	chr13	108518709	108518709	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgctgctgctgctgcTgctgccgctgctgctgctgg	0	12	15	14	1	0	0	0	0	0	0	0	0	0	0	1	1	11	12	1	1	0	0			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr13:108518709T>C	uc001vql.3	-	0	752	c.236A>G	c.(235-237)cAg>cGg	p.Q79R		NM_001080396	NP_001073865	B1AL88	F155A_HUMAN	Homo sapiens family with sequence similarity 155, member A (FAM155A), mRNA.	79	Poly-Gln.					integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ctgctgctgctgctgccgctg	0.677													21	29					0	0	1	0	0	C	108518709	T	C	108518709	3	2	31	1	0	0	0	0	1	0	0	0	5465	1580	55	4	1152	4	FAM155A	13	108518709	Missense_Mutation	SNP	T	TCGA-DB-A4XB-01A-11D-A26M-08		108518709	6651169	27	1252											
FERMT2	10979	broad.mit.edu	37	chr14	53385874	53385874	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgtcagaaacagctttgaAgactctatcagagaaattca	16	10	8	7	0	4	4	3	1	1	3	4	6	4	4	0	0	2	1	0	0	4	3			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr14:53385874A>G	uc001xac.3	-	2	544	c.358T>C	c.(358-360)Ttc>Ctc	p.F120L	FERMT2_uc001xad.3_Missense_Mutation_p.F120L|FERMT2_uc001xae.3_Missense_Mutation_p.F120L|FERMT2_uc001xaf.3_Missense_Mutation_p.F120L	NM_001134999	NP_001128471	Q96AC1	FERM2_HUMAN	Homo sapiens fermitin family member 2 (FERMT2), transcript variant 2, mRNA.	120					actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					ACAGCTTTGAAGACTCTATCA	0.393													25	31					0	0	1	0	0	G	53385874	A	G	53385874	3	3	31	1	0	0	0	0	1	0	0	0	5818	72	3	4	1773	4	FERMT2	14	53385874	Missense_Mutation	SNP	A	TCGA-DB-A4XB-01A-11D-A26M-08		53385874	53963666	28	1253											
DIO2	1734	broad.mit.edu	37	chr14	80669148	80669148	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagataagcaattttctGtctctgcacaatgcacacac	12	11	5	13	0	2	1	0	0	2	1	4	1	3	1	1	0	3	3	1	0	3	3			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr14:80669148G>C	uc021rxa.1	-	2	867	c.814C>G	c.(814-816)Cag>Gag	p.Q272E	DIO2_uc001xut.3_3'UTR|DIO2_uc010asx.3_3'UTR|DIO2_uc021rxb.1_Missense_Mutation_p.Q236E|DIO2_uc010asy.3_Missense_Mutation_p.Q236E	NM_001007023		Q92813	IOD2_HUMAN	Homo sapiens deiodinase, iodothyronine, type II (DIO2), transcript variant 3, mRNA.	236					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		GCAATTTTCTGTCTCTGCACA	0.507													23	24					0	0	1	0	0	C	80669148	G	C	80669148	3	2	31	1	0	0	0	0	1	0	0	0	4525	1386	48	5	119	5	DIO2	14	80669148	Missense_Mutation	SNP	G	TCGA-DB-A4XB-01A-11D-A26M-08	27283274	80669148	26680392	29	1254											
CATSPERB	79820	broad.mit.edu	37	chr14	92076966	92076966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagtgttggcaccattgtcGtaacaaagcactcagtagag	12	10	10	9	1	2	1	2	0	0	1	3	1	2	1	1	1	2	5	1	1	3	4			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr14:92076966G>A	uc001xzs.1	-	20	2596	c.2456C>T	c.(2455-2457)aCg>aTg	p.T819M	CATSPERB_uc010aub.1_Missense_Mutation_p.T341M	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	819					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CACCATTGTCGTAACAAAGCA	0.373													7	25					0	0	1	0	0	A	92076966	G	A	92076966	3	1	31	1	0	0	0	0	1	0	0	0	2691	1145	40	1	922	1	CATSPERB	14	92076966	Missense_Mutation	SNP	G	TCGA-DB-A4XB-01A-11D-A26M-08	11407818	92076966	15272574	30	1255											
ACAN	176	broad.mit.edu	37	chr15	89382124	89382124	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcgggtcaacagtgcctatCaggacaaggtctcactgccc	9	8	11	13	1	3	0	3	0	1	0	4	1	3	1	2	3	4	0	2	3	3	1			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr15:89382124C>G	uc010upo.1	+	2	675	c.301C>G	c.(301-303)Cag>Gag	p.Q101E	ACAN_uc002bmx.3_Missense_Mutation_p.Q101E|ACAN_uc010upp.1_Missense_Mutation_p.Q101E|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	101					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CAGTGCCTATCAGGACAAGGT	0.617													30	103					0	0	1	0	0	G	89382124	C	G	89382124	3	3	31	1	0	0	0	0	1	0	0	0	117	827	29	5	307	5	ACAN	15	89382124	Missense_Mutation	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08		89382124	13149268	31	1256			1	2		2	2	19	C		2.209509e-05
ACAN	176	broad.mit.edu	37	chr15	89382142	89382142	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcaggacaaggtctcactgCccaactacccggccatcccc	10	6	7	18	1	2	0	2	0	1	0	4	1	3	1	5	3	3	0	5	3	3	1			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr15:89382142C>A	uc010upo.1	+	2	693	c.319C>A	c.(319-321)Ccc>Acc	p.P107T	ACAN_uc002bmx.3_Missense_Mutation_p.P107T|ACAN_uc010upp.1_Missense_Mutation_p.P107T|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	107					cell adhesion		hyaluronic acid binding|sugar binding	p.P107P(1)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGTCTCACTGCCCAACTACCC	0.612													34	105					2.66277e-13	2.86759e-13	1	1	0	A	89382142	C	A	89382142	3	1	31	1	0	0	0	0	1	0	0	0	117	739	26	5	325	5	ACAN	15	89382142	Missense_Mutation	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08	18	89382142	13149250	32	1257			1	2		2	2	19	C		2.209509e-05
CLCN7	1186	broad.mit.edu	37	chr16	1506159	1506159	+	Frame_Shift_Del	DEL	C	C	-																															cactccggccgcagcccctgCggagacgaagtcccgcttct																										TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr16:1506159delC	uc002clv.2	-	9	981	c.871delG	c.(871-873)gcafs	p.A291fs	CLCN7_uc002clw.2_Frame_Shift_Del_p.A267fs	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	291						integral to membrane|lysosomal membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GCAGCCCCTGCGGAGACGAAG	0.652													2	4	---	---	---	---						-	1506159	C	-	1506159	7	5	31	1	0	1	0	1	0	0	0	0	3468	768	27	0	1610	0	CLCN7	16	1506159	Frame_Shift_Del	DEL	C	TCGA-DB-A4XB-01A-11D-A26M-08		1506159	88848594	33	1258											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr17:7577538C>T	uc002gim.2	-	6	937	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.3_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q|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.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			45	7					0	0	1	0	0	T	7577538	C	T	7577538	3	4	31	1	0	0	0	0	1	0	0	0	16378	652	23	2	547	2	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08		7577538	73617672	34	1259											
ALPK2	115701	broad.mit.edu	37	chr18	56203630	56203630	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaattatgagaccaccGtctgatgccttgctctcaga	10	11	9	11	1	3	3	2	2	2	2	4	5	3	4	3	1	2	1	3	1	2	2	rs76266246	byFrequency	TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr18:56203630G>A	uc002lhj.4	-	4	4003	c.3789C>T	c.(3787-3789)gaC>gaT	p.D1263D	ALPK2_uc002lhk.1_Silent_p.D594D	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1263							ATP binding|protein serine/threonine kinase activity	p.D624D(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGAGACCACCGTCTGATGCCT	0.498													53	65					0	0	1	0	0	A	56203630	G	A	56203630	2	1	31	1	0	0	0	0	0	0	0	1	545	1136	40	1		1	ALPK2	18	56203630	Silent	SNP	G	TCGA-DB-A4XB-01A-11D-A26M-08		56203630	21873618	35	1260											
CPXM1	56265	broad.mit.edu	37	chr20	2775986	2775986	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggggcaattcattctcGtgagggaacttgtcacagga	9	11	12	9	1	3	1	2	1	1	0	5	3	4	3	1	4	1	1	1	4	2	3			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr20:2775986G>A	uc002wgu.3	-	11	1871	c.1797C>T	c.(1795-1797)caC>caT	p.H599H	CPXM1_uc010gas.3_Silent_p.H525H	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA.	599					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ATTCATTCTCGTGAGGGAACT	0.567													19	20					0	0	1	0	0	A	2775986	G	A	2775986	2	1	31	1	0	0	0	0	0	0	0	1	3837	1136	40	1		1	CPXM1	20	2775986	Silent	SNP	G	TCGA-DB-A4XB-01A-11D-A26M-08		2775986	60249534	36	1261											
EIF1AX	1964	broad.mit.edu	37	chrX	20156713	20156713	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagattcattctcattcttaCccctgcgtctgtttttacct	6	18	4	13	1	4	1	2	0	3	1	5	1	4	1	3	0	3	1	3	0	2	7			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chrX:20156713C>A	uc004czt.3	-	1	252	c.44G>T	c.(43-45)gGt>gTt	p.G15V	SCARNA9L_uc010nfp.3_5'Flank	NM_001412	NP_001403	P47813	IF1AX_HUMAN	Homo sapiens eukaryotic translation initiation factor 1A, X-linked (EIF1AX), mRNA.	15						cytosol	translation initiation factor activity	p.R14W(1)		endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CTCATTCTTACCCCTGCGTCT	0.308													13	2					7.03913e-09	7.39108e-09	1	1	0	A	20156713	C	A	20156713	3	1	31	1	0	0	0	0	1	0	0	0	4992	507	18	5	414	5	EIF1AX	23	20156713	Missense_Mutation	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08		20156713	135113847	37	1262											
ATRX	546	broad.mit.edu	37	chrX	76855199	76855199	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacgaaaaagtattcgatttActttgtataatcatcggagc	14	13	7	7	3	1	0	1	0	0	0	3	3	1	1	0	1	2	2	0	1	6	7			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chrX:76855199A>G	uc004ecp.4	-	24	6018	c.5786_splice	c.e24+1	p.K1929_splice	ATRX_uc004ecq.4_Splice_Site_p.K1891_splice|ATRX_uc004eco.4_Splice_Site_p.K1714_splice	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1929	Poly-Lys.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TATTCGATTTACTTTGTATAA	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						6	1					0	0	1	0	0	G	76855199	A	G	76855199	5	3	31	1	0	0	0	0	0	0	1	0	1208	405	14	3	1738	3	ATRX	23	76855199	Splice_Site	SNP	A	TCGA-DB-A4XB-01A-11D-A26M-08	56698486	76855199	78415361	38	1263											
TIE1	7075	broad.mit.edu	37	chr1	43784936	43784936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacctggctgcccggaatGtgctggtcggagagaaccta	8	7	16	10	2	0	1	0	0	0	1	1	5	0	4	3	5	3	2	3	5	3	1	rs45475401	byFrequency	TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr1:43784936G>A	uc001ciu.3	+	17	3130	c.2953G>A	c.(2953-2955)Gtg>Atg	p.V985M	TIE1_uc010oke.2_Missense_Mutation_p.V940M|TIE1_uc009vwq.3_Missense_Mutation_p.V941M|TIE1_uc010okg.2_Missense_Mutation_p.V630M|TIE1_uc021omo.1_5'Flank	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	985	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGCCCGGAATGTGCTGGTCGG	0.562													7	44					0	0	1	0	0	A	43784936	G	A	43784936	3	1	32	1	0	0	0	0	1	0	0	0	15890	1377	48	3	3023	3	TIE1	1	43784936	Missense_Mutation	SNP	G	TCGA-DB-A4XC-01A-11D-A26M-08		43784936	205465685	1	1264											
S100A9	6280	broad.mit.edu	37	chr1	153333307	153333307	+	Frame_Shift_Del	DEL	C	C	-																															gccaggcctcggggagggcaCcccctaagaccacagtggcc																										TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr1:153333307delC	uc001fbq.3	+	2	381	c.338delC	c.(337-339)accfs	p.T113fs		NM_002965	NP_002956	P06702	S10A9_HUMAN	Homo sapiens S100 calcium binding protein A9 (S100A9), mRNA.	113					cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGGAGGGCACCCCCTAAGAC	0.652													2	4	---	---	---	---						-	153333307	C	-	153333307	7	5	32	1	0	1	0	1	0	0	0	0	13787	507	18	0	344	0	S100A9	1	153333307	Frame_Shift_Del	DEL	C	TCGA-DB-A4XC-01A-11D-A26M-08	109548371	153333307	95917314	2	1265											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								5	19					0	0	1	0	0	T	209113112	C	T	209113112	3	4	32	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A4XC-01A-11D-A26M-08		209113112	34086261	3	1266											
TMEM161B	153396	broad.mit.edu	37	chr5	87502987	87502987	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atagtgtgtagttaatgaaaAtagaactttgctgcagaagg	15	12	11	3	0	0	3	0	1	0	2	0	3	0	3	0	1	3	4	0	1	8	5			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr5:87502987A>G	uc003kjc.3	-	5	582	c.457T>C	c.(457-459)Ttt>Ctt	p.F153L	TMEM161B_uc011cty.2_Missense_Mutation_p.F142L|TMEM161B_uc010jax.3_Non-coding_Transcript|TMEM161B_uc011ctz.1_Missense_Mutation_p.F20L|TMEM161B_uc011ctx.2_Intron	NM_153354	NP_699185	Q8NDZ6	T161B_HUMAN	Homo sapiens transmembrane protein 161B (TMEM161B), mRNA.	153						integral to membrane		p.L152I(1)		endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		GTTAATGAAAATAGAACTTTG	0.318													6	13					0	0	1	0	0	G	87502987	A	G	87502987	3	3	32	1	0	0	0	0	1	0	0	0	16074	101	4	3	1034	3	TMEM161B	5	87502987	Missense_Mutation	SNP	A	TCGA-DB-A4XC-01A-11D-A26M-08		87502987	93412273	4	1267											
ERAP1	51752	broad.mit.edu	37	chr5	96116772	96116775	+	Frame_Shift_Del	DEL	GTTT	GTTT	-																															caccacttacttttgtacaaGtttgttccagtttttcctca																										TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr5:96116772_96116775delGTTT	uc003kmm.3	-	16	2922_2925	c.2575_2578delAAAC	c.(2575-2580)aaacttfs	p.K859fs	ERAP1_uc003kml.3_Frame_Shift_Del_p.K859fs|ERAP1_uc010jbm.2_Frame_Shift_Del_p.K671fs|ERAP1_uc003kmn.3_Frame_Shift_Del_p.K859fs	NM_001040458	NP_001185470	Q9NZ08	ERAP1_HUMAN	Homo sapiens endoplasmic reticulum aminopeptidase 1 (ERAP1), transcript variant 2, mRNA.	859					angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		TTTTGTACAAGTTTGTTCCAGTTT	0.387													10	22	---	---	---	---						-	96116775	GTTT	-	96116772	7	5	32	1	0	1	0	1	0	0	0	0	5203	1029	36	0	292	0	ERAP1	5	96116772	Frame_Shift_Del	DEL	GTTT	TCGA-DB-A4XC-01A-11D-A26M-08	8613785	96116772	84798488	5	1268											
PCDHGC5	56097	broad.mit.edu	37	chr5	140710809	140710809	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatgtgcaacagggagcCgatgggcctcaacatccaga	11	6	13	11	1	1	1	1	0	0	1	2	4	2	3	3	3	4	1	3	3	2	0			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr5:140710809C>T	uc003lji.2	+	0	558	c.558C>T	c.(556-558)gcC>gcT	p.A186A	PCDHGC5_uc011dan.2_Silent_p.A186A	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	186	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACAGGGAGCCGATGGGCCTC	0.527													10	43					0	0	1	0	0	T	140710809	C	T	140710809	2	4	32	1	0	0	0	0	0	0	0	1	11571	639	23	2		2	PCDHGC5	5	140710809	Silent	SNP	C	TCGA-DB-A4XC-01A-11D-A26M-08	44594037	140710809	40204451	6	1269											
TFAP2B	7021	broad.mit.edu	37	chr6	50811003	50811003	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccgaggcgctcaaaggCatggacaagatgttcttgaa	12	8	11	10	2	3	2	2	1	1	1	3	4	3	3	1	3	0	3	1	3	3	2			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr6:50811003C>G	uc003pag.3	+	6	1447	c.1281C>G	c.(1279-1281)ggC>ggG	p.G427G		NM_003221	NP_003212	Q92481	AP2B_HUMAN	Homo sapiens transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (TFAP2B), mRNA.	427				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).	nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					CGCTCAAAGGCATGGACAAGA	0.582													12	27					0	0	1	0	0	G	50811003	C	G	50811003	2	3	32	1	0	0	0	0	0	0	0	1	15785	697	25	5		5	TFAP2B	6	50811003	Silent	SNP	C	TCGA-DB-A4XC-01A-11D-A26M-08		50811003	120304064	7	1270											
IL17F	112744	broad.mit.edu	37	chr6	52109195	52109195	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgattgctgctactcacCatggctgggccatgcagggt	8	10	13	10	0	1	1	1	1	0	0	1	2	1	1	2	3	4	4	2	3	2	2			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr6:52109195C>A	uc003pam.1	-	1	104	c.33_splice	c.e1+1	p.M11_splice		NM_052872	NP_443104	Q96PD4	IL17F_HUMAN	Homo sapiens interleukin 17F (IL17F), mRNA.	11					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					TGCTACTCACCATGGCTGGGC	0.453													8	41					0.0692343	0.0721191	1	1	0	A	52109195	C	A	52109195	5	1	32	1	0	0	0	0	0	0	1	0	7638	608	21	5	470	5	IL17F	6	52109195	Splice_Site	SNP	C	TCGA-DB-A4XC-01A-11D-A26M-08	1298192	52109195	119005872	8	1271											
TNRC18	84629	broad.mit.edu	37	chr7	5352461	5352461	+	Frame_Shift_Del	DEL	G	G	-																															gaagggccagccgtgggggcGggggctgcctcatcgtccga																										TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr7:5352461delG	uc003soi.4	-	26	8410	c.8061delC	c.(8059-8061)cccfs	p.P2687fs		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	2687							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCGTGGGGGCGGGGGCTGCCT	0.687													2	4	---	---	---	---						-	5352461	G	-	5352461	7	5	32	1	0	1	0	1	0	0	0	0	16336	1103	39	0	861	0	TNRC18	7	5352461	Frame_Shift_Del	DEL	G	TCGA-DB-A4XC-01A-11D-A26M-08		5352461	153786202	9	1272											
FAM166B	730112	broad.mit.edu	37	chr9	35563239	35563241	+	In_Frame_Del	DEL	AGG	AGG	-																															agactctccctgggaacctcAggagatcttggaggccgaat																										TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr9:35563239_35563241delAGG	uc011low.2	-	1	279_281	c.208_210delCCT	c.(208-210)cctdel	p.P70del	FAM166B_uc003zwy.3_In_Frame_Del_p.P70del|FAM166B_uc010mkr.3_In_Frame_Del_p.P70del|FAM166B_uc011lov.2_In_Frame_Del_p.P70del			A8MTA8	F166B_HUMAN	Homo sapiens family with sequence similarity 166, member B (FAM166B), transcript variant 2, mRNA.	70										kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						TGGGAACCTCAGGAGATCTTGGA	0.601													17	139	---	---	---	---						-	35563241	AGG	-	35563239	7	5	32	1	0	1	0	1	0	0	0	0	5482	175	7	0	456	0	FAM166B	9	35563239	In_Frame_Del	DEL	AGG	TCGA-DB-A4XC-01A-11D-A26M-08		35563239	105650192	10	1273											
C11orf30	56946	broad.mit.edu	37	chr11	76174901	76174901	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaagatgaaaaacccagaaAacgaaggcgaacaaactctt	20	5	8	8	2	1	4	0	2	1	2	1	6	1	4	1	1	4	0	1	1	8	1			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr11:76174901A>G	uc001oxl.3	+	6	751	c.608A>G	c.(607-609)aAa>aGa	p.K203R	C11orf30_uc009yuj.1_Missense_Mutation_p.K218R|C11orf30_uc010rsa.1_Missense_Mutation_p.K153R|C11orf30_uc001oxm.3_Missense_Mutation_p.K204R|C11orf30_uc010rsb.2_Missense_Mutation_p.K218R|C11orf30_uc010rsc.2_Missense_Mutation_p.K218R|C11orf30_uc001oxn.3_Missense_Mutation_p.K204R|C11orf30_uc010rsd.2_Missense_Mutation_p.K217R	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	Homo sapiens chromosome 11 open reading frame 30 (C11orf30), mRNA.	203	Interaction with BRCA2.				DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						AAACCCAGAAAACGAAGGCGA	0.413													25	71					0	0	1	0	0	G	76174901	A	G	76174901	3	3	32	1	0	0	0	0	1	0	0	0	1636	14	1	3	630	3	C11orf30	11	76174901	Missense_Mutation	SNP	A	TCGA-DB-A4XC-01A-11D-A26M-08		76174901	58831615	11	1274											
DTX1	1840	broad.mit.edu	37	chr12	113515358	113515358	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatctgcatcaccatccAgaacgcctacgagaagcagc	13	5	9	14	2	2	2	1	0	1	2	3	4	3	3	3	1	5	2	3	1	3	1			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr12:113515358A>G	uc001tuk.1	+	1	725	c.389A>G	c.(388-390)cAg>cGg	p.Q130R		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.	130	WWE 2.				Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						ATCACCATCCAGAACGCCTAC	0.607													10	52					0	0	1	0	0	G	113515358	A	G	113515358	3	3	32	1	0	0	0	0	1	0	0	0	4793	188	7	4	395	4	DTX1	12	113515358	Missense_Mutation	SNP	A	TCGA-DB-A4XC-01A-11D-A26M-08		113515358	20336537	12	1275											
KIAA0586	9786	broad.mit.edu	37	chr14	58899174	58899177	+	Splice_Site	DEL	AAGT	AAGT	-																															taagaacagttttaaagcaaAagtaagtttcatttacagaa																										TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr14:58899174_58899177delAAGT	uc010trr.2	+	5	690	c.446_splice	c.e5+1	p.N149_splice	KIAA0586_uc001xdu.4_Splice_Site_p.K122_splice|KIAA0586_uc010trs.2_Splice_Site_p.K52_splice|KIAA0586_uc001xdt.4_Splice_Site_p.N52_splice|KIAA0586_uc001xdv.4_Splice_Site_p.K137_splice	NM_001244189	NP_001231118	E9PGW8	E9PGW8_HUMAN	Homo sapiens KIAA0586 (KIAA0586), transcript variant 1, mRNA.	136										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTTAAAGCAAAAGTAAGTTTCATT	0.279													4	5	---	---	---	---						-	58899177	AAGT	-	58899174	8	5	32	1	0	1	0	1	0	0	1	0	8186	28	1	0	423	0	KIAA0586	14	58899174	Splice_Site	DEL	AAGT	TCGA-DB-A4XC-01A-11D-A26M-08		58899174	48450366	13	1276											
RPS6KL1	83694	broad.mit.edu	37	chr14	75386664	75386664	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctcacgtcgctccttgtTggggtcaactgtgggagaca	7	10	13	11	2	2	1	2	0	0	1	4	2	3	1	2	3	2	2	2	3	1	2			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr14:75386664T>G	uc010tux.2	-	2	802	c.274A>C	c.(274-276)Aac>Cac	p.N92H	RPS6KL1_uc010asd.2_Non-coding_Transcript|RPS6KL1_uc021rwp.1_Missense_Mutation_p.N92H|RPS6KL1_uc001xqy.1_Missense_Mutation_p.N92H	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	Homo sapiens ribosomal protein S6 kinase-like 1 (RPS6KL1), mRNA.	92	MIT.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CGCTCCTTGTTGGGGTCAACT	0.607													9	24					0	0	1	0	0	G	75386664	T	G	75386664	3	3	32	1	0	0	0	0	1	0	0	0	13659	1812	63	5	1387	5	RPS6KL1	14	75386664	Missense_Mutation	SNP	T	TCGA-DB-A4XC-01A-11D-A26M-08	16487490	75386664	31962876	14	1277											
ADAMTS7	11173	broad.mit.edu	37	chr15	79059040	79059040	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taggacagatcctcgtggaaAttgatgaaattgtagtcgta	13	12	11	5	2	0	3	0	2	0	1	3	5	1	5	1	2	0	2	1	2	5	5	rs144043775	by1000genomes	TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr15:79059040A>G	uc002bej.4	-	18	3424	c.3213T>C	c.(3211-3213)aaT>aaC	p.N1071N	ADAMTS7_uc010und.1_3'UTR	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1071					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N1071S(6)|p.N1071N(4)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCTCGTGGAAATTGATGAAAT	0.617													4	36					0	0	1	0	0	G	79059040	A	G	79059040	2	3	32	1	0	0	0	0	0	0	0	1	271	98	4	3		3	ADAMTS7	15	79059040	Silent	SNP	A	TCGA-DB-A4XC-01A-11D-A26M-08		79059040	23472352	15	1278											
MMP25	64386	broad.mit.edu	37	chr16	3108981	3108981	+	Frame_Shift_Del	DEL	C	C	-																															ccccaggccccccaaagcgaCccccgtgtccgaaacctgcg																										TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr16:3108981delC	uc002cth.3	+	9	1808	c.1571delC	c.(1570-1572)accfs	p.T524fs	BC045731_uc002ctj.1_Intron	NM_022468	NP_071913	Q9NPA2	MMP25_HUMAN	Homo sapiens matrix metallopeptidase 25 (MMP25), mRNA.	524					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						CCCAAAGCGACCCCCGTGTCC	0.711													2	4	---	---	---	---						-	3108981	C	-	3108981	7	5	32	1	0	1	0	1	0	0	0	0	9662	507	18	0	1609	0	MMP25	16	3108981	Frame_Shift_Del	DEL	C	TCGA-DB-A4XC-01A-11D-A26M-08		3108981	87245772	16	1279											
CNOT1	23019	broad.mit.edu	37	chr16	58589320	58589323	+	Frame_Shift_Del	DEL	TCTT	TCTT	-																															ggcaggctgttatatgtaacTctttatcaggatactgggga																										TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr16:58589320_58589323delTCTT	uc002env.3	-	20	3016_3019	c.2723_2726delAAGA	c.(2722-2727)aaagagfs	p.K908fs	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Frame_Shift_Del_p.K903fs|CNOT1_uc002enx.3_Frame_Shift_Del_p.K908fs|CNOT1_uc002enz.1_Frame_Shift_Del_p.K337fs	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	908					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TATATGTAACTCTTTATCAGGATA	0.373													15	71	---	---	---	---						-	58589323	TCTT	-	58589320	7	5	32	1	0	1	0	1	0	0	0	0	3617	1551	54	0	4742	0	CNOT1	16	58589320	Frame_Shift_Del	DEL	TCTT	TCGA-DB-A4XC-01A-11D-A26M-08	55480339	58589320	31765433	17	1280											
TP53	7157	broad.mit.edu	37	chr17	7579406	7579406	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgggaagggacagaagatGacaggggccaggagggggct	11	4	20	6	0	1	3	0	1	1	2	1	6	1	6	1	7	0	1	1	7	2	0			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr17:7579406G>C	uc002gim.2	-	3	475	c.281C>G	c.(280-282)tCa>tGa	p.S94*	TP53_uc002gig.1_Nonsense_Mutation_p.S94*|TP53_uc002gih.3_Nonsense_Mutation_p.S94*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Nonsense_Mutation_p.S94*|TP53_uc010cnh.1_Nonsense_Mutation_p.S94*|TP53_uc002gij.2_Nonsense_Mutation_p.S94*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Nonsense_Mutation_p.S55*|TP53_uc010cnk.1_Nonsense_Mutation_p.S109*	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	94	Interaction with WWOX.		S -> L (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.S94*(6)|p.L93fs*30(3)|p.G59fs*23(3)|p.S94T(2)|p.V73fs*9(1)|p.S94fs*29(1)|p.S94fs*54(1)|p.A88fs*52(1)|p.L93M(1)|p.W91fs*13(1)|p.P13fs*18(1)|p.S33fs*23(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)		GACAGAAGATGACAGGGGCCA	0.627		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)			51	26					0	0	1	0	0	C	7579406	G	C	7579406	4	2	32	1	0	0	0	0	0	1	0	0	16378	1294	45	5	1021	5	TP53	17	7579406	Nonsense_Mutation	SNP	G	TCGA-DB-A4XC-01A-11D-A26M-08		7579406	73615804	18	1281											
MYH13	8735	broad.mit.edu	37	chr17	10210260	10210260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaacagagctcacatccGtgatggccttcttggccttc	9	10	10	12	1	2	3	1	1	1	2	4	4	3	3	3	2	2	1	3	2	2	3			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr17:10210260G>A	uc002gmk.1	-	35	5381	c.5291C>T	c.(5290-5292)aCg>aTg	p.T1764M		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1764					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCTCACATCCGTGATGGCCTT	0.517													10	55					0	0	1	0	0	A	10210260	G	A	10210260	3	1	32	1	0	0	0	0	1	0	0	0	10032	1145	40	1	549	1	MYH13	17	10210260	Missense_Mutation	SNP	G	TCGA-DB-A4XC-01A-11D-A26M-08	2630854	10210260	70984950	19	1282											
TADA2A	6871	broad.mit.edu	37	chr17	35783699	35783699	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaatgtgggccacctccttTtttcctctgcttgcaggtaa	6	15	9	11	0	1	1	0	1	1	0	3	1	3	1	4	2	2	3	4	2	2	5			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr17:35783699T>C	uc002hnv.3	+	2	485	c.116T>C	c.(115-117)tTt>tCt	p.F39S	TADA2A_uc002hnt.3_Missense_Mutation_p.F39S|TADA2A_uc002hnu.1_Missense_Mutation_p.F39S|TADA2A_uc002hnw.3_5'UTR	NM_001488	NP_001479	O75478	TAD2A_HUMAN	Homo sapiens transcriptional adaptor 2A (TADA2A), transcript variant 1, mRNA.	39	Cys-rich.				histone H3 acetylation|transcription from RNA polymerase II promoter	PCAF complex|chromosome	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						CCACCTCCTTTTTTCCTCTGC	0.443													9	53					0	0	1	0	0	C	35783699	T	C	35783699	3	2	32	1	0	0	0	0	1	0	0	0	15507	1841	64	3	122	3	TADA2A	17	35783699	Missense_Mutation	SNP	T	TCGA-DB-A4XC-01A-11D-A26M-08	25573439	35783699	45411511	20	1283											
GRIN2C	2905	broad.mit.edu	37	chr17	72843447	72843449	+	Splice_Site	DEL	CTT	CTT	-																															agcagctatggccccacaacCttcttgtcactgaggcccga																										TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr17:72843447_72843449delCTT	uc002jlt.1	-	9	2157	c.2001_splice	c.e9+1	p.K667_splice	GRIN2C_uc010wrh.1_Splice_Site|GRIN2C_uc002jlu.1_Splice_Site_p.K667_splice	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C (GRIN2C), mRNA.	667					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GCCCCACAACCTTCTTGTCACTG	0.611													9	66	---	---	---	---						-	72843449	CTT	-	72843447	8	5	32	1	0	1	0	1	0	0	1	0	6781	695	24	0	1720	0	GRIN2C	17	72843447	Splice_Site	DEL	CTT	TCGA-DB-A4XC-01A-11D-A26M-08	37059748	72843447	8351763	21	1284											
SLC25A10	1468	broad.mit.edu	37	chr17	79674051	79674051	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatcaagaactacatccAaggcatcaacctcgtccagg	15	6	8	12	1	2	1	2	0	0	1	5	2	4	2	3	3	3	1	3	3	6	1			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr17:79674051A>G	uc010wut.2	+	3	593	c.461A>G	c.(460-462)cAa>cGa	p.Q154R	SLC25A10_uc002kbh.2_Missense_Mutation_p.Q154R	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 (SLC25A10), nuclear gene encoding mitochondrial protein, mRNA.	0					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	AACTACATCCAAGGCATCAAC	0.587													8	46					0	0	1	0	0	G	79674051	A	G	79674051	3	3	32	1	0	0	0	0	1	0	0	0	14472	130	5	3		3	SLC25A10	17	79674051	Missense_Mutation	SNP	A	TCGA-DB-A4XC-01A-11D-A26M-08	6830604	79674051	1521159	22	1285											
RASGRP4	115727	broad.mit.edu	37	chr19	38909083	38909083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgcacgctgtaggggcccgGgacggctcagcaccatcacc	7	5	14	15	3	2	0	2	0	0	0	2	1	2	1	3	4	2	5	3	4	1	1			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr19:38909083G>A	uc021uub.1	-	6	999	c.785C>T	c.(784-786)cCc>cTc	p.P262L	RASGRP4_uc010efz.2_Non-coding_Transcript|RASGRP4_uc010ega.2_Non-coding_Transcript|RASGRP4_uc021utz.1_Missense_Mutation_p.P262L|RASGRP4_uc021uua.1_Missense_Mutation_p.P228L|RASGRP4_uc021uuc.1_Missense_Mutation_p.P262L|RASGRP4_uc021uud.1_Intron|RASGRP4_uc021uue.1_Intron|RASGRP4_uc021uuf.1_Missense_Mutation_p.P248L	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Homo sapiens RAS guanyl releasing protein 4 (RASGRP4), transcript variant a, mRNA.	262	Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	GTP-dependent protein binding|Ras guanyl-nucleotide exchange factor activity|diacylglycerol binding|metal ion binding			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TAGGGGCCCGGGACGGCTCAG	0.662													3	12					0	0	1	0	0	A	38909083	G	A	38909083	3	1	32	1	0	0	0	0	1	0	0	0	13077	1232	43	3	1280	3	RASGRP4	19	38909083	Missense_Mutation	SNP	G	TCGA-DB-A4XC-01A-11D-A26M-08		38909083	20219900	23	1286											
SSTR4	6754	broad.mit.edu	37	chr20	23016513	23016513	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcgacggcctcaacatgttCaccagcgtcttctgtctcac	7	11	8	15	3	5	0	3	0	3	0	7	1	5	0	2	1	2	1	2	1	1	2			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr20:23016513C>G	uc002wsr.2	+	0	457	c.393C>G	c.(391-393)ttC>ttG	p.F131L		NM_001052	NP_001043	P31391	SSR4_HUMAN	Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.	131					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCAACATGTTCACCAGCGTCT	0.711													34	60					0	0	1	0	0	G	23016513	C	G	23016513	3	3	32	1	0	0	0	0	1	0	0	0	15199	825	29	5	395	5	SSTR4	20	23016513	Missense_Mutation	SNP	C	TCGA-DB-A4XC-01A-11D-A26M-08		23016513	40009007	24	1287											
ATRX	546	broad.mit.edu	37	chrX	76938089	76938092	+	Frame_Shift_Del	DEL	TCTC	TCTC	-																															gccttctgctgaagagaaagTctctctctcttgttttcttt																								rs141180098		TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chrX:76938089_76938092delTCTC	uc004ecp.4	-	8	2888_2891	c.2656_2659delGAGA	c.(2656-2661)gagactfs	p.E886fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.E848fs|ATRX_uc004eco.4_Frame_Shift_Del_p.E671fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.E818fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.E857fs|ATRX_uc010nly.1_Frame_Shift_Del_p.E831fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	886					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.E886fs*18(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GAAGAGAAAGTCTCTCTCTCTTGT	0.412			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						46	26	---	---	---	---						-	76938092	TCTC	-	76938089	7	5	32	1	0	1	0	1	0	0	0	0	1208	1667	58	0	4927	0	ATRX	23	76938089	Frame_Shift_Del	DEL	TCTC	TCGA-DB-A4XC-01A-11D-A26M-08		76938089	78332471	25	1288											
ABCG8	64241	broad.mit.edu	37	chr2	44099378	44099378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagcagcgtgaccccactaGacaccaactgcctcccgagt	10	5	8	18	2	0	2	0	1	0	1	1	3	1	2	6	0	4	1	6	0	2	1			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr2:44099378G>A	uc002rtq.3	+	7	1234	c.1144G>A	c.(1144-1146)Gac>Aac	p.D382N	ABCG8_uc010yoa.2_Missense_Mutation_p.D381N	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	382					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GACCCCACTAGACACCAACTG	0.582													11	57					0	0	1	0	0	A	44099378	G	A	44099378	3	1	33	1	0	0	0	0	1	0	0	0	72	942	33	3	1174	3	ABCG8	2	44099378	Missense_Mutation	SNP	G	TCGA-DB-A4XD-01A-11D-A27K-08		44099378	199099995	1	1289											
LONRF2	164832	broad.mit.edu	37	chr2	100915722	100915722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acactcaaagtcagttacatCaagcgagagcccctgacttt	13	9	7	12	1	3	2	3	1	0	1	3	3	3	2	2	0	3	1	2	0	3	2			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr2:100915722C>T	uc002tal.4	-	5	1967	c.1327G>A	c.(1327-1329)Gat>Aat	p.D443N	LONRF2_uc010yvs.2_Intron	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 2 (LONRF2), mRNA.	443					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TCAGTTACATCAAGCGAGAGC	0.418													6	32					0	0	1	0	0	T	100915722	C	T	100915722	3	4	33	1	0	0	0	0	1	0	0	0	8895	826	29	3	965	3	LONRF2	2	100915722	Missense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08	56816344	100915722	142283651	2	1290											
TTN	7273	broad.mit.edu	37	chr2	179587270	179587270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaagaaggtgggagttggCgctctgtagggagacatgta	12	8	16	5	1	1	2	0	0	1	2	1	4	1	3	0	4	0	4	0	4	5	3			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr2:179587270C>T	uc021vsy.1	-	73	18737	c.18512G>A	c.(18511-18513)cGc>cAc	p.R6171H	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R2832H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7098	Ig-like 43.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGGAGTTGGCGCTCTGTAGG	0.378													4	135					0	0	1	0	0	T	179587270	C	T	179587270	3	4	33	1	0	0	0	0	1	0	0	0	16732	768	27	1	82429	1	TTN	2	179587270	Missense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08	78671548	179587270	63612103	3	1291											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr2:209113113G>A	uc002vcs.3	-	3	640	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_uc002vct.3_Missense_Mutation_p.R132C|IDH1_uc002vcu.3_Missense_Mutation_p.R132C	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								25	36					0	0	1	0	0	A	209113113	G	A	209113113	3	1	33	1	0	0	0	0	1	0	0	0	7494	1058	37	2	878	2	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-DB-A4XD-01A-11D-A27K-08	29525843	209113113	34086260	4	1292											
TBL1XR1	79718	broad.mit.edu	37	chr3	176782756	176782756	+	Frame_Shift_Del	DEL	T	T	-																															gaagttgacctcatcactgcTtatactcatctttattccca																										TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr3:176782756delT	uc003fiw.4	-	2	270	c.10delA	c.(10-12)agcfs	p.S4fs	TBL1XR1_uc003fix.4_Frame_Shift_Del_p.S4fs|TBL1XR1_uc011bpz.2_Intron|TBL1XR1_uc003fiy.2_Frame_Shift_Del_p.S4fs	NM_024665	NP_078941	Q9BZK7	TBL1R_HUMAN	Homo sapiens transducin (beta)-like 1 X-linked receptor 1 (TBL1XR1), mRNA.	4	LisH.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TCATCACTGCTTATACTCATC	0.289													2	4	---	---	---	---						-	176782756	T	-	176782756	7	5	33	1	0	1	0	1	0	0	0	0	15637	1609	56	0	1590	0	TBL1XR1	3	176782756	Frame_Shift_Del	DEL	T	TCGA-DB-A4XD-01A-11D-A27K-08		176782756	21239674	5	1293											
ANK2	287	broad.mit.edu	37	chr4	114278387	114278387	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatctgccacatcttctatTcaaaaaacagaggtcacaaa	17	10	4	10	0	5	1	2	0	3	1	5	1	5	1	1	1	2	0	1	1	6	4			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr4:114278387T>C	uc003ibe.4	+	37	8713	c.8613T>C	c.(8611-8613)atT>atC	p.I2871I	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Silent_p.I2886I	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2838					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CATCTTCTATTCAAAAAACAG	0.373													4	164					0	0	1	0	0	C	114278387	T	C	114278387	2	2	33	1	0	0	0	0	0	0	0	1	621	1771	62	3		3	ANK2	4	114278387	Silent	SNP	T	TCGA-DB-A4XD-01A-11D-A27K-08		114278387	76875889	6	1294											
SLC6A3	6531	broad.mit.edu	37	chr5	1416304	1416304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcacacctgggtggccgCgtcaatccaaacctgcagag	11	5	12	13	2	1	1	1	0	0	1	2	2	2	1	4	2	3	2	4	2	3	0			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr5:1416304C>T	uc003jck.3	-	6	1066	c.940G>A	c.(940-942)Gcg>Acg	p.A314T		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	314					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		p.A314V(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TGGGTGGCCGCGTCAATCCAA	0.627													9	67					0	0	1	0	0	T	1416304	C	T	1416304	3	4	33	1	0	0	0	0	1	0	0	0	14685	768	27	1	958	1	SLC6A3	5	1416304	Missense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08		1416304	179498956	7	1295											
KLHL3	26249	broad.mit.edu	37	chr5	136993906	136993906	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaggagatggtatttcaTggcctcaatgaggaagtctt	11	11	14	5	0	3	2	2	1	1	1	3	5	3	4	1	5	0	1	1	5	3	3			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr5:136993906T>C	uc010jek.3	-	7	1261	c.817A>G	c.(817-819)Atg>Gtg	p.M273V	KLHL3_uc011cyc.2_Missense_Mutation_p.M42V|KLHL3_uc003lbr.4_Missense_Mutation_p.M191V|KLHL3_uc011cyd.2_Non-coding_Transcript|KLHL3_uc010jel.1_Missense_Mutation_p.M42V|KLHL3_uc010jem.1_Missense_Mutation_p.M233V|KLHL3_uc010jen.1_Non-coding_Transcript	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	Homo sapiens kelch-like 3 (Drosophila) (KLHL3), mRNA.	273						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		TGGTATTTCATGGCCTCAATG	0.473													44	66					0	0	1	0	0	C	136993906	T	C	136993906	3	2	33	1	0	0	0	0	1	0	0	0	8383	1464	51	3	978	3	KLHL3	5	136993906	Missense_Mutation	SNP	T	TCGA-DB-A4XD-01A-11D-A27K-08	135577602	136993906	43921354	8	1296											
PCDHAC2	56134	broad.mit.edu	37	chr5	140237074	140237074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacggtgtctgcgtgggacGcggacgcgcaggagaacgcc	7	5	17	12	7	2	1	1	0	1	1	2	4	2	3	1	4	2	1	1	4	1	0			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr5:140237074G>A	uc003lhx.2	+	0	1441	c.1441G>A	c.(1441-1443)Gcg>Acg	p.A481T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Missense_Mutation_p.A481T|PCDHAC2_uc011dad.2_Missense_Mutation_p.A481T	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	496	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A481S(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGTGGGACGCGGACGCGCA	0.662													5	280					0	0	1	0	0	A	140237074	G	A	140237074	3	1	33	1	0	0	0	0	1	0	0	0	11533	1087	38	1		1	PCDHAC2	5	140237074	Missense_Mutation	SNP	G	TCGA-DB-A4XD-01A-11D-A27K-08	3243168	140237074	40678186	9	1297											
PCDHB3	56132	broad.mit.edu	37	chr5	140480514	140480514	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaaattggaccgggaggAgctatgcggccccacagaac	12	5	14	10	2	0	2	0	1	0	2	0	6	0	5	3	4	3	1	3	4	3	2			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr5:140480514A>G	uc003lio.3	+	0	281	c.281A>G	c.(280-282)gAg>gGg	p.E94G	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	94	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACCGGGAGGAGCTATGCGGC	0.463													10	153					0	0	1	0	0	G	140480514	A	G	140480514	3	3	33	1	0	0	0	0	1	0	0	0	11543	304	11	4	283	4	PCDHB3	5	140480514	Missense_Mutation	SNP	A	TCGA-DB-A4XD-01A-11D-A27K-08	243440	140480514	40434746	10	1298											
SERPINB9	5272	broad.mit.edu	37	chr6	2892078	2892078	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gggtcttaccgtgctgagctCcacgccgtcgtcaggcagca	6	8	13	14	4	2	1	1	1	1	0	4	1	3	1	3	2	4	4	3	2	1	1			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr6:2892078C>G	uc003mug.3	-	5	833	c.712G>C	c.(712-714)Gag>Cag	p.E238Q	AY927512_uc003mue.3_Intron|SERPINB9_uc003muf.3_Missense_Mutation_p.E41Q	NM_004155	NP_004146	P50453	SPB9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 9 (SERPINB9), mRNA.	238					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GTGCTGAGCTCCACGCCGTCG	0.642													4	142					0	0	1	0	0	G	2892078	C	G	2892078	3	3	33	1	0	0	0	0	1	0	0	0	14108	864	30	5	426	5	SERPINB9	6	2892078	Missense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08		2892078	168222989	11	1299											
DEK	7913	broad.mit.edu	37	chr6	18236804	18236804	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttttaattaaaggttcaTcatctgaactatcctcagac	13	15	4	9	0	4	2	3	1	1	1	5	2	5	2	1	1	1	1	1	1	5	6			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr6:18236804T>G	uc003ncr.1	-	8	1119	c.926A>C	c.(925-927)gAt>gCt	p.D309A	DEK_uc011djf.1_Missense_Mutation_p.D275A|DEK_uc011djg.1_Non-coding_Transcript	NM_003472	NP_003463	P35659	DEK_HUMAN	Homo sapiens DEK oncogene (DEK), transcript variant 1, mRNA.	309	Asp/Glu-rich (acidic).				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			TAAAGGTTCATCATCTGAACT	0.294			T	NUP214	AML								6	59					0	0	1	0	0	G	18236804	T	G	18236804	3	3	33	1	0	0	0	0	1	0	0	0	4424	1435	50	5	213	5	DEK	6	18236804	Missense_Mutation	SNP	T	TCGA-DB-A4XD-01A-11D-A27K-08	15344726	18236804	152878263	12	1300											
BCLAF1	9774	broad.mit.edu	37	chr6	136588241	136588241	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggtctcttttgaaaagtagTatttgagttgtttggaccag	9	16	11	5	1	1	2	0	2	1	0	2	3	1	3	1	2	0	4	1	2	4	7			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr6:136588241T>G	uc003qgx.1	-	10	2723	c.2470A>C	c.(2470-2472)Act>Cct	p.T824P	BCLAF1_uc011edb.1_Intron|BCLAF1_uc003qgy.1_Intron|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.T822P|BCLAF1_uc003qgw.1_Missense_Mutation_p.T651P	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	824					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGAAAAGTAGTATTTGAGTTG	0.393													7	83					0	0	1	0	0	G	136588241	T	G	136588241	3	3	33	1	0	0	0	0	1	0	0	0	1383	1638	57	5	304	5	BCLAF1	6	136588241	Missense_Mutation	SNP	T	TCGA-DB-A4XD-01A-11D-A27K-08	118351437	136588241	34526826	13	1301											
SYNE1	23345	broad.mit.edu	37	chr6	152763234	152763234	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgcggcgttcctgcctctcCcggctgcgctccaggccatc	3	9	11	18	4	1	0	0	0	1	0	5	0	3	0	5	3	3	3	5	3	0	1			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr6:152763234C>A	uc021zhb.1	-	28	4207	c.3984G>T	c.(3982-3984)cgG>cgT	p.R1328R	SYNE1_uc003qot.4_Silent_p.R1335R|SYNE1_uc003qou.4_Silent_p.R1328R|SYNE1_uc010kjb.1_Silent_p.R1311R|SYNE1_uc003qow.3_Silent_p.R623R|SYNE1_uc003qox.1_Silent_p.R844R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1328					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		CCTGCCTCTCCCGGCTGCGCT	0.632										HNSCC(10;0.0054)			4	148					0.184627	0.187342	1	1	0	A	152763234	C	A	152763234	2	1	33	1	0	0	0	0	0	0	0	1	15442	610	22	5		5	SYNE1	6	152763234	Silent	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08	16174993	152763234	18351833	14	1302											
TTLL2	83887	broad.mit.edu	37	chr6	167752140	167752140	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctttgttcacagatcttTgagaaccaccaccccagcct	9	11	6	15	0	2	2	1	1	1	2	2	3	2	2	5	0	3	2	5	0	1	3			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr6:167752140T>C	uc003qvs.1	+	1	141	c.53T>C	c.(52-54)tTg>tCg	p.L18S		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.	18					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CACAGATCTTTGAGAACCACC	0.488													31	48					0	0	1	0	0	C	167752140	T	C	167752140	3	2	33	1	0	0	0	0	1	0	0	0	16724	1821	63	3	59	3	TTLL2	6	167752140	Missense_Mutation	SNP	T	TCGA-DB-A4XD-01A-11D-A27K-08	14988906	167752140	3362927	15	1303											
WBSCR17	64409	broad.mit.edu	37	chr7	70800596	70800596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggggtaaagggggccttcCggctactctttccccggctg	4	9	15	13	3	1	0	0	0	1	0	3	0	3	0	4	6	1	3	4	6	3	4	rs140476927		TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr7:70800596C>T	uc003tvy.3	+	1	299	c.299C>T	c.(298-300)cCg>cTg	p.P100L	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	100						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGGGGCCTTCCGGCTACTCTT	0.463													7	86					0	0	1	0	0	T	70800596	C	T	70800596	3	4	33	1	0	0	0	0	1	0	0	0	17261	652	23	2	305	2	WBSCR17	7	70800596	Missense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08		70800596	88338067	16	1304											
LMTK2	22853	broad.mit.edu	37	chr7	97736519	97736521	+	In_Frame_Del	DEL	GCT	GCT	-																															ccgccggcgttgcggcggagGctgctgctgctgctgctggt																										TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr7:97736519_97736521delGCT	uc003upd.2	+	0	323_325	c.30_32delGCT	c.(28-33)aggctg>agg	p.L16del		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	16					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGCGGCGGAGGCTGCTGCTGCTG	0.764													2	4	---	---	---	---						-	97736521	GCT	-	97736519	7	5	33	1	0	1	0	1	0	0	0	0	8859	1194	42	0	32	0	LMTK2	7	97736519	In_Frame_Del	DEL	GCT	TCGA-DB-A4XD-01A-11D-A27K-08	26935923	97736519	61402144	17	1305											
CPA1	1357	broad.mit.edu	37	chr7	130023308	130023308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgggagtgggtcacccaggCcagtggggtctggtttgcaa	6	8	17	10	1	2	0	1	0	1	0	2	1	2	1	3	6	1	2	3	6	1	1			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr7:130023308C>T	uc003vpx.3	+	4	632	c.560C>T	c.(559-561)gCc>gTc	p.A187V	CPA1_uc011kpf.1_Missense_Mutation_p.A99V|CPA1_uc003vpw.2_Intron	NM_001868	NP_001859	P15085	CBPA1_HUMAN	Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA.	187					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GTCACCCAGGCCAGTGGGGTC	0.642													18	47					0	0	1	0	0	T	130023308	C	T	130023308	3	4	33	1	0	0	0	0	1	0	0	0	3789	739	26	3	578	3	CPA1	7	130023308	Missense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08	32286789	130023308	29115355	18	1306											
MFHAS1	9258	broad.mit.edu	37	chr8	8750372	8750372	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttccccaggttcagtgccTcaatgtccccgaggttggcc	5	11	11	14	1	2	0	2	0	0	0	4	1	4	0	6	3	1	3	6	3	1	3			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr8:8750372T>G	uc003wsj.1	-	0	760	c.197A>C	c.(196-198)gAg>gCg	p.E66A		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	Homo sapiens malignant fibrous histiocytoma amplified sequence 1 (MFHAS1), mRNA.	66										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GTTCAGTGCCTCAATGTCCCC	0.746													4	19					0	0	1	0	0	G	8750372	T	G	8750372	3	3	33	1	0	0	0	0	1	0	0	0	9521	1551	54	5	2973	5	MFHAS1	8	8750372	Missense_Mutation	SNP	T	TCGA-DB-A4XD-01A-11D-A27K-08		8750372	137613650	19	1307											
KIAA1429	25962	broad.mit.edu	37	chr8	95503832	95503832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcaggtggtgtgaaaaacCtattctgactgtggaaagca	14	9	12	6	0	1	2	0	2	1	0	1	3	1	3	1	3	3	2	1	3	5	2			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr8:95503832C>T	uc003ygo.2	-	21	5185	c.5114G>A	c.(5113-5115)aGg>aAg	p.R1705K	KIAA1429_uc010maz.2_Intron	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	1705					RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TGTGAAAAACCTATTCTGACT	0.393													6	118					0	0	1	0	0	T	95503832	C	T	95503832	3	4	33	1	0	0	0	0	1	0	0	0	8231	681	24	3	336	3	KIAA1429	8	95503832	Missense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08	86753460	95503832	50860190	20	1308											
COL22A1	169044	broad.mit.edu	37	chr8	139768055	139768055	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtacaccaggtggcccCgcaggtcccacgtcaccctg	6	6	11	18	2	1	0	1	0	0	0	2	0	2	0	6	4	1	2	6	4	1	1			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr8:139768055C>T	uc003yvd.3	-	18	2367	c.1920G>A	c.(1918-1920)gcG>gcA	p.A640A	COL22A1_uc011ljo.2_5'UTR	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	640	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CAGGTGGCCCCGCAGGTCCCA	0.547										HNSCC(7;0.00092)			11	156					0	0	1	0	0	T	139768055	C	T	139768055	2	4	33	1	0	0	0	0	0	0	0	1	3681	639	23	2		2	COL22A1	8	139768055	Silent	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08	44264223	139768055	6595967	21	1309											
KANK1	23189	broad.mit.edu	37	chr9	713193	713193	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgtaggggaatctctggaGaacccccagcctcaagctcc	9	7	10	15	0	2	1	1	0	1	1	4	3	3	2	5	3	3	2	5	3	4	1			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr9:713193G>A	uc003zgl.1	+	6	3076	c.2427G>A	c.(2425-2427)gaG>gaA	p.E809E	KANK1_uc003zgm.3_Silent_p.E809E|KANK1_uc003zgn.1_Silent_p.E809E|KANK1_uc003zgo.1_Silent_p.E809E|KANK1_uc003zgp.1_Silent_p.E809E|KANK1_uc003zgq.2_Silent_p.E651E|KANK1_uc003zgr.1_Silent_p.E651E|KANK1_uc003zgs.1_Silent_p.E651E	NM_015158	NP_055973	Q14678	KANK1_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 1 (KANK1), transcript variant 1, mRNA.	809					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		AATCTCTGGAGAACCCCCAGC	0.572													17	167					0	0	1	0	0	A	713193	G	A	713193	2	1	33	1	0	0	0	0	0	0	0	1	7976	933	33	3		3	KANK1	9	713193	Silent	SNP	G	TCGA-DB-A4XD-01A-11D-A27K-08		713193	140500238	22	1310											
SNAPC4	6621	broad.mit.edu	37	chr9	139291430	139291430	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatcaggccaacagttaccGagatcgggggatcggcagga	12	5	15	9	3	1	2	1	0	0	2	3	5	1	4	2	5	2	2	2	5	2	1			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr9:139291430G>A	uc004chh.3	-	2	186	c.177_splice	c.e2+1	p.S59_splice		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	59					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		AACAGTTACCGAGATCGGGGG	0.567													51	108					0	0	1	0	0	A	139291430	G	A	139291430	5	1	33	1	0	0	0	0	0	0	1	0	14837	1072	37	2	4317	2	SNAPC4	9	139291430	Splice_Site	SNP	G	TCGA-DB-A4XD-01A-11D-A27K-08	138578237	139291430	1922001	23	1311											
NUDT13	25961	broad.mit.edu	37	chr10	74879835	74879835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaagcccagcaaacaggagCgttttacctctttcatagtc	13	10	7	11	1	2	0	1	0	1	0	3	1	2	1	2	1	5	2	2	1	5	4	rs145352986	byFrequency	TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr10:74879835C>T	uc001jtj.3	+	2	268	c.143C>T	c.(142-144)gCg>gTg	p.A48V	NUDT13_uc010qkc.2_5'UTR|NUDT13_uc010qkd.2_5'UTR|NUDT13_uc009xqw.3_Non-coding_Transcript|NUDT13_uc001jtk.3_Missense_Mutation_p.A48V|NUDT13_uc010qke.2_5'UTR|NUDT13_uc001jtl.3_Missense_Mutation_p.A48V	NM_015901	NP_056985	Q86X67	NUD13_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 13 (NUDT13), mRNA.	48							hydrolase activity|metal ion binding			large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					CAAACAGGAGCGTTTTACCTC	0.448													25	106					0	0	1	0	0	T	74879835	C	T	74879835	3	4	33	1	0	0	0	0	1	0	0	0	10729	768	27	1	149	1	NUDT13	10	74879835	Missense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08		74879835	60654912	24	1312											
TBX10	347853	broad.mit.edu	37	chr11	67400532	67400532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgggtccacgaagaccaCgtggaaacggggctggtagc	9	5	17	10	4	0	1	0	0	0	1	1	3	1	2	2	5	2	2	2	5	3	1			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr11:67400532C>T	uc001omp.3	-	4	680	c.592G>A	c.(592-594)Gtg>Atg	p.V198M		NM_005995	NP_005986	O75333	TBX10_HUMAN	Homo sapiens T-box 10 (TBX10), mRNA.	198					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						ACGAAGACCACGTGGAAACGG	0.567													24	344					0	0	1	0	0	T	67400532	C	T	67400532	3	4	33	1	0	0	0	0	1	0	0	0	15648	536	19	1	581	1	TBX10	11	67400532	Missense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08		67400532	67605984	25	1313											
SERPINH1	871	broad.mit.edu	37	chr11	75282973	75282973	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatggcaacccctttgacCaggacatctacgggcgcgag	10	6	12	13	3	1	2	0	1	1	1	1	4	1	3	3	3	2	1	3	3	2	2			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr11:75282973C>T	uc001owr.3	+	4	1400	c.1102C>T	c.(1102-1104)Cag>Tag	p.Q368*	SERPINH1_uc009yug.3_Nonsense_Mutation_p.Q368*|SERPINH1_uc001ows.3_Nonsense_Mutation_p.Q368*|SERPINH1_uc001owt.3_Nonsense_Mutation_p.Q151*	NM_001235	NP_001226	P50454	SERPH_HUMAN	Homo sapiens serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) (SERPINH1), transcript variant 2, mRNA.	368					regulation of proteolysis|response to unfolded protein	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					CCCCTTTGACCAGGACATCTA	0.617													21	62					0	0	1	0	0	T	75282973	C	T	75282973	4	4	33	1	0	0	0	0	0	1	0	0	14117	595	21	3	1116	3	SERPINH1	11	75282973	Nonsense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08	7882441	75282973	59723543	26	1314											
SLCO1B1	10599	broad.mit.edu	37	chr12	21327629	21327629	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttttgactgctttgccacaTttcttcatgggatagtaagt	8	17	9	7	0	2	1	1	1	1	0	2	2	2	2	1	1	2	3	1	1	2	7			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr12:21327629T>A	uc001req.4	+	3	449	c.345T>A	c.(343-345)caT>caA	p.H115Q		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	115					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CTTTGCCACATTTCTTCATGG	0.323													21	32					0	0	1	0	0	A	21327629	T	A	21327629	3	1	33	1	0	0	0	0	1	0	0	0	14723	1490	52	5	355	5	SLCO1B1	12	21327629	Missense_Mutation	SNP	T	TCGA-DB-A4XD-01A-11D-A27K-08		21327629	112524266	27	1315											
USP44	84101	broad.mit.edu	37	chr12	95926723	95926723	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccagttgtctctaattcaCgttgtattttatctaaaagt	11	18	5	7	1	3	0	1	0	2	0	4	0	3	0	1	0	1	3	1	0	6	9			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr12:95926723C>T	uc001teg.3	-	1	1454	c.1310G>A	c.(1309-1311)cGt>cAt	p.R437H	USP44_uc001teh.3_Missense_Mutation_p.R437H|USP44_uc009zte.3_Missense_Mutation_p.R434H	NM_001042403	NP_115523	Q9H0E7	UBP44_HUMAN	Homo sapiens ubiquitin specific peptidase 44 (USP44), transcript variant 2, mRNA.	437					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						CTCTAATTCACGTTGTATTTT	0.393													11	76					0	0	1	0	0	T	95926723	C	T	95926723	3	4	33	1	0	0	0	0	1	0	0	0	17072	536	19	1	848	1	USP44	12	95926723	Missense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08	74599094	95926723	37925172	28	1316											
STAB2	55576	broad.mit.edu	37	chr12	104033987	104033987	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgtaaatcagataacccGtgtcataggaatgcaaattg	16	11	8	6	1	2	1	2	0	0	1	2	2	2	2	1	1	2	2	1	1	7	5			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr12:104033987G>A	uc001tjw.3	+	8	1179	c.993G>A	c.(991-993)ccG>ccA	p.P331P		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	331	EGF-like 5.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAGATAACCCGTGTCATAGGA	0.463													32	80					0	0	1	0	0	A	104033987	G	A	104033987	2	1	33	1	0	0	0	0	0	0	0	1	15237	1132	40	1		1	STAB2	12	104033987	Silent	SNP	G	TCGA-DB-A4XD-01A-11D-A27K-08	8107264	104033987	29817908	29	1317											
FBXW8	26259	broad.mit.edu	37	chr12	117448196	117448196	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgttctccgtgacttcacGtgtgtcaacctcagcgacag	9	10	9	13	4	4	1	3	1	1	0	5	2	4	1	2	0	3	1	2	0	2	2	rs146667375	byFrequency	TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr12:117448196G>A	uc001twg.1	+	7	1390	c.1308G>A	c.(1306-1308)acG>acA	p.T436T	FBXW8_uc001twf.1_Silent_p.T370T	NM_153348	NP_699179	Q8N3Y1	FBXW8_HUMAN	Homo sapiens F-box and WD repeat domain containing 8 (FBXW8), transcript variant 1, mRNA.	436							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		GTGACTTCACGTGTGTCAACC	0.572													14	146					0	0	1	0	0	A	117448196	G	A	117448196	2	1	33	1	0	0	0	0	0	0	0	1	5770	1132	40	1		1	FBXW8	12	117448196	Silent	SNP	G	TCGA-DB-A4XD-01A-11D-A27K-08	13414209	117448196	16403699	30	1318											
ATP11A	23250	broad.mit.edu	37	chr13	113487270	113487270	+	Frame_Shift_Del	DEL	G	G	-																															gccccaggaaatcgccggacGgggggaaatcctgtgtgtac																										TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr13:113487270delG	uc001vsj.4	+	13	1580	c.1492delG	c.(1492-1494)gggfs	p.G498fs	ATP11A_uc001vsi.4_Frame_Shift_Del_p.G498fs|ATP11A_uc001vsm.1_Frame_Shift_Del_p.G374fs	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	498					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ATCGCCGGACGGGGGGAAATC	0.622													7	497	---	---	---	---						-	113487270	G	-	113487270	7	5	33	1	0	1	0	1	0	0	0	0	1119	1116	39	0	1546	0	ATP11A	13	113487270	Frame_Shift_Del	DEL	G	TCGA-DB-A4XD-01A-11D-A27K-08		113487270	1682608	31	1319											
GPX2	2877	broad.mit.edu	37	chr14	65409342	65409342	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcagagcgaagccacatTctcaatcagcacggccctgc	10	6	9	16	2	3	1	3	0	1	1	4	2	3	1	3	1	4	1	3	1	2	1			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr14:65409342T>G	uc021ruq.1	-	0	190	c.103A>C	c.(103-105)Aat>Cat	p.N35H	CHURC1-FNTB_uc010tsk.2_Intron|CHURC1-FNTB_uc010tsj.2_Intron|CHURC1-FNTB_uc010tsl.2_Intron|CHURC1-FNTB_uc010tsm.2_Intron|GPX2_uc001xhy.1_Non-coding_Transcript	NM_002083	NP_002074	P18283	GPX2_HUMAN	Homo sapiens glutathione peroxidase 2 (gastrointestinal) (GPX2), mRNA.	35					response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity			large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	GAAGCCACATTCTCAATCAGC	0.577													5	113					0	0	1	0	0	G	65409342	T	G	65409342	3	3	33	1	0	0	0	0	1	0	0	0	6740	1783	62	5	477	5	GPX2	14	65409342	Missense_Mutation	SNP	T	TCGA-DB-A4XD-01A-11D-A27K-08		65409342	41940198	32	1320											
MCTP2	55784	broad.mit.edu	37	chr15	94927307	94927307	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgaccgacttcagacgcatAccgtctacaaaaacctcaac	15	7	5	14	3	3	2	2	1	1	1	3	3	3	2	3	0	4	1	3	0	5	3			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr15:94927307A>G	uc002btj.3	+	11	1704	c.1639A>G	c.(1639-1641)Acc>Gcc	p.T547A	MCTP2_uc002bti.2_Missense_Mutation_p.T547A|MCTP2_uc010boj.3_Missense_Mutation_p.T276A|MCTP2_uc010bok.3_Missense_Mutation_p.T547A|MCTP2_uc002btk.4_Missense_Mutation_p.T135A|MCTP2_uc002btl.3_Missense_Mutation_p.T135A	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	547	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TCAGACGCATACCGTCTACAA	0.433													5	49					0	0	1	0	0	G	94927307	A	G	94927307	3	3	33	1	0	0	0	0	1	0	0	0	9401	391	14	3	1685	3	MCTP2	15	94927307	Missense_Mutation	SNP	A	TCGA-DB-A4XD-01A-11D-A27K-08		94927307	7604085	33	1321											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	11	6	9	15	1	2	1	2	0	0	1	2	1	2	1	4	3	0	2	4	3	2	2	rs121912666		TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr17:7578190T>C	uc002gim.2	-	5	853	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.3_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.2_Missense_Mutation_p.Y181C|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(516)|p.Y127C(24)|p.Y220S(22)|p.Y220N(12)|p.Y220H(11)|p.?(11)|p.0?(8)|p.P219S(4)|p.P219P(4)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(3)|p.P219L(3)|p.Y220_P223delYEPP(2)|p.V218_Y220delVPY(2)|p.V216_Y220delVVVPY(2)|p.P219T(2)|p.Y220fs*25(2)|p.V218_E221delVPYE(2)|p.Y220fs*2(2)|p.V218_E224delVPYEPPE(2)|p.K164_P219del(1)|p.Y220L(1)|p.Y220fs*1(1)|p.Y127S(1)|p.V218_P219insX(1)|p.D208fs*1(1)|p.P219R(1)|p.P219C(1)|p.P219H(1)|p.V218fs*26(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)		AGGCGGCTCATAGGGCACCAC	0.557		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)			33	5					0	0	1	0	0	C	7578190	T	C	7578190	3	2	33	1	0	0	0	0	1	0	0	0	16378	1406	49	3	635	3	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-DB-A4XD-01A-11D-A27K-08		7578190	73617020	34	1322											
TP53	7157	broad.mit.edu	37	chr17	7578508	7578508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacccacagctgcacagggCaggtcttggccagttggcaa	10	6	12	13	0	1	0	0	0	1	0	1	0	1	0	2	4	3	5	2	4	2	2			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr17:7578508C>T	uc002gim.2	-	4	616	c.422G>A	c.(421-423)tGc>tAc	p.C141Y	TP53_uc002gig.1_Missense_Mutation_p.C141Y|TP53_uc002gih.3_Missense_Mutation_p.C141Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C9Y|TP53_uc010cnf.1_Missense_Mutation_p.C9Y|TP53_uc002gii.1_Missense_Mutation_p.C9Y|TP53_uc010cni.1_Missense_Mutation_p.C141Y|TP53_uc010cnh.1_Missense_Mutation_p.C141Y|TP53_uc002gij.2_Missense_Mutation_p.C141Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C48Y|TP53_uc002gio.2_Missense_Mutation_p.C9Y|TP53_uc010vug.2_Missense_Mutation_p.C102Y	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	141	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C141Y(149)|p.C141*(12)|p.T140I(12)|p.C141R(12)|p.C141W(11)|p.C141F(8)|p.0?(8)|p.T140T(6)|p.A138_P142delAKTCP(6)|p.C141S(6)|p.C9Y(5)|p.C48Y(5)|p.C141C(4)|p.C141fs*29(3)|p.L137_W146del10(2)|p.A138_V143delAKTCPV(2)|p.N131fs*27(2)|p.C141A(2)|p.C141G(2)|p.K139_C141>N(2)|p.T140fs*28(2)|p.C141fs*8(2)|p.C141fs*5(2)|p.K139fs*4(1)|p.F134_T140>S(1)|p.A45_P49delAKTCP(1)|p.T140fs*9(1)|p.K139_T140delKT(1)|p.C141fs*34(1)|p.C141fs*30(1)|p.C9S(1)|p.A6_P10delAKTCP(1)|p.T140N(1)|p.C48S(1)|p.T140fs*30(1)|p.C141_P142insXX(1)|p.C135_T140delCQLAKT(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)		CTGCACAGGGCAGGTCTTGGC	0.572		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)			5	78					0	0	1	0	0	T	7578508	C	T	7578508	3	4	33	1	0	0	0	0	1	0	0	0	16378	710	25	3	876	3	TP53	17	7578508	Missense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08	318	7578508	73616702	35	1323											
FLOT2	2319	broad.mit.edu	37	chr17	27208913	27208913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagcgatgagctccttgtccGtacgcaggatctcctgtgcc	6	11	11	13	3	1	1	0	1	1	0	4	3	3	2	4	1	4	3	4	1	2	3			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr17:27208913G>A	uc002hdc.3	-	7	956	c.833C>T	c.(832-834)aCg>aTg	p.T278M		NM_004475	NP_004466	Q14254	FLOT2_HUMAN	Homo sapiens flotillin 2 (FLOT2), mRNA.	278					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CTCCTTGTCCGTACGCAGGAT	0.617													4	146					0	0	1	0	0	A	27208913	G	A	27208913	3	1	33	1	0	0	0	0	1	0	0	0	5937	1145	40	1	469	1	FLOT2	17	27208913	Missense_Mutation	SNP	G	TCGA-DB-A4XD-01A-11D-A27K-08	19630405	27208913	53986297	36	1324											
SF3A2	8175	broad.mit.edu	37	chr19	2247981	2247981	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcagggcccccgggaccAccccagctacccccgccagc	6	2	9	24	2	1	0	1	0	0	0	1	1	1	1	9	2	3	1	9	2	1	1			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr19:2247981A>C	uc002lvg.3	+	8	953	c.831A>C	c.(829-831)ccA>ccC	p.P277P	AMH_uc002lvh.2_5'Flank|AMH_uc021umr.1_5'Flank	NM_007165	NP_009096	Q15428	SF3A2_HUMAN	Homo sapiens splicing factor 3a, subunit 2, 66kDa (SF3A2), mRNA.	277	Pro-rich.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		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)		CCCCGGGACCACCCCAGCTAC	0.756													4	5					0	0	1	0	0	C	2247981	A	C	2247981	2	2	33	1	0	0	0	0	0	0	0	1	14147	146	6	5		5	SF3A2	19	2247981	Silent	SNP	A	TCGA-DB-A4XD-01A-11D-A27K-08		2247981	56881002	37	1325											
ACSBG2	81616	broad.mit.edu	37	chr19	6187326	6187326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgctggtggtgaaaatgtgCcccccattcctgttgagacc	7	11	11	12	0	0	2	0	2	0	1	1	3	1	2	5	2	2	2	5	2	2	2			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr19:6187326C>T	uc002mef.1	+	11	1800	c.1573C>T	c.(1573-1575)Ccc>Tcc	p.P525S	ACSBG2_uc002mee.1_Missense_Mutation_p.P338S|ACSBG2_uc002meg.1_Missense_Mutation_p.P525S|ACSBG2_uc002meh.1_Missense_Mutation_p.P525S|ACSBG2_uc002mei.1_Missense_Mutation_p.P475S|ACSBG2_uc010xiz.1_Missense_Mutation_p.P525S	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	525					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGAAAATGTGCCCCCCATTCC	0.483													14	164					0	0	1	0	0	T	6187326	C	T	6187326	3	4	33	1	0	0	0	0	1	0	0	0	174	739	26	3	1615	3	ACSBG2	19	6187326	Missense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08	3939345	6187326	52941657	38	1326											
MEGF8	1954	broad.mit.edu	37	chr19	42873066	42873066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggacgagtgtgcaaacGggcaccacgactgcaacgag	12	4	14	11	4	0	1	0	1	0	0	0	5	0	2	1	2	4	3	1	2	2	0			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr19:42873066G>A	uc002otl.4	+	35	6987	c.6352G>A	c.(6352-6354)Ggg>Agg	p.G2118R	MEGF8_uc002otm.4_Missense_Mutation_p.G1726R|MEGF8_uc002otn.4_5'Flank	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	2185	PSI 6.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GTGTGCAAACGGGCACCACGA	0.622													51	54					0	0	1	0	0	A	42873066	G	A	42873066	3	1	33	1	0	0	0	0	1	0	0	0	9463	1116	39	2	6494	2	MEGF8	19	42873066	Missense_Mutation	SNP	G	TCGA-DB-A4XD-01A-11D-A27K-08	36685740	42873066	16255917	39	1327											
NLRP12	91662	broad.mit.edu	37	chr19	54314482	54314482	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacattcccctaggcgcgcaTtgcggtcttccatgagccgg	6	9	11	15	4	1	1	0	1	1	0	3	1	3	1	4	3	2	1	4	3	1	4			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr19:54314482T>A	uc002qcj.4	-	2	651	c.431A>T	c.(430-432)aAt>aTt	p.N144I	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.N144I|NLRP12_uc002qci.4_Missense_Mutation_p.N144I|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.N144I	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	144					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TAGGCGCGCATTGCGGTCTTC	0.567													46	136					0	0	1	0	0	A	54314482	T	A	54314482	3	1	33	1	0	0	0	0	1	0	0	0	10474	1493	52	5	2882	5	NLRP12	19	54314482	Missense_Mutation	SNP	T	TCGA-DB-A4XD-01A-11D-A27K-08	11441416	54314482	4814501	40	1328											
FIZ1	84922	broad.mit.edu	37	chr19	56104856	56104856	+	Frame_Shift_Del	DEL	A	A	-																															cacattgcagcagacggagcAgggcgcactcaaggcgggca																										TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr19:56104856delA	uc002qli.4	-	2	541	c.451delT	c.(451-453)tgcfs	p.C151fs	FIZ1_uc002qlj.4_Frame_Shift_Del_p.C151fs	NM_032836	NP_116225	Q96SL8	FIZ1_HUMAN	Homo sapiens FLT3-interacting zinc finger 1 (FIZ1), mRNA.	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding	p.C151C(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CAGACGGAGCAGGGCGCACTC	0.761													2	4	---	---	---	---						-	56104856	A	-	56104856	7	5	33	1	0	1	0	1	0	0	0	0	5900	188	7	0	1043	0	FIZ1	19	56104856	Frame_Shift_Del	DEL	A	TCGA-DB-A4XD-01A-11D-A27K-08	1790374	56104856	3024127	41	1329											
GAB4	128954	broad.mit.edu	37	chr22	17444666	17444666	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tggatgttaccagtgctcctCggcggggctgaactgctggt	5	11	15	10	2	0	1	0	1	0	0	2	2	1	2	2	5	4	4	2	5	2	1			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr22:17444666C>G	uc002zlw.3	-	8	1638	c.1530G>C	c.(1528-1530)ccG>ccC	p.P510P		NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	510										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CAGTGCTCCTCGGCGGGGCTG	0.612													3	55					0	0	1	0	0	G	17444666	C	G	17444666	2	3	33	1	0	0	0	0	0	0	0	1	6151	871	31	5		5	GAB4	22	17444666	Silent	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08		17444666	33859900	42	1330											
USP9X	8239	broad.mit.edu	37	chrX	41084138	41084138	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgcagtaattcagaggaaAccgtcaaattgcttcgtttt	12	13	8	8	2	2	1	2	0	0	1	3	2	2	2	1	1	3	4	1	1	3	6			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:41084138A>G	uc004dfb.3	+	39	7528	c.6895A>G	c.(6895-6897)Acc>Gcc	p.T2299A	USP9X_uc004dfc.3_Missense_Mutation_p.T2299A	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	2299					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTCAGAGGAAACCGTCAAATT	0.383													4	52					0	0	1	0	0	G	41084138	A	G	41084138	3	3	33	1	0	0	0	0	1	0	0	0	17087	43	2	3	7049	3	USP9X	23	41084138	Missense_Mutation	SNP	A	TCGA-DB-A4XD-01A-11D-A27K-08		41084138	114186422	43	1331											
ATRX	546	broad.mit.edu	37	chrX	76814303	76814306	+	Frame_Shift_Del	DEL	ATAA	ATAA	-																															atcctgctttagtagaaatgAtaaataatcgtcctctgaaa																										TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:76814303_76814306delATAA	uc004ecp.4	-	28	6570_6573	c.6338_6341delTTAT	c.(6337-6342)tttatcfs	p.F2113fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.F2075fs|ATRX_uc004eco.4_Frame_Shift_Del_p.F1898fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2113	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.F2113fs*9(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AGTAGAAATGATAAATAATCGTCC	0.289			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						8	12	---	---	---	---						-	76814306	ATAA	-	76814303	7	5	33	1	0	1	0	1	0	0	0	0	1208	333	12	0	1165	0	ATRX	23	76814303	Frame_Shift_Del	DEL	ATAA	TCGA-DB-A4XD-01A-11D-A27K-08	35730165	76814303	78456257	44	1332											
ATRX	546	broad.mit.edu	37	chrX	76909677	76909680	+	Frame_Shift_Del	DEL	CTTT	CTTT	-																															ctgattttcttccaactctgCtttctttgcagacctgacga																										TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:76909677_76909680delCTTT	uc004ecp.4	-	13	4457_4460	c.4225_4228delAAAG	c.(4225-4230)aaagcafs	p.K1409fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K1371fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K1194fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K1341fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1409					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.K1409fs*80(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCCAACTCTGCTTTCTTTGCAGAC	0.319			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						8	48	---	---	---	---						-	76909680	CTTT	-	76909677	7	5	33	1	0	1	0	1	0	0	0	0	1208	797	28	0	3338	0	ATRX	23	76909677	Frame_Shift_Del	DEL	CTTT	TCGA-DB-A4XD-01A-11D-A27K-08	95374	76909677	78360883	45	1333											
ATRX	546	broad.mit.edu	37	chrX	76937770	76937770	+	Frame_Shift_Del	DEL	T	T	-																															tcttaaagtctgaaggtttcTttttttcttcagttcccttt																										TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:76937770delT	uc004ecp.4	-	8	3210	c.2978delA	c.(2977-2979)aagfs	p.K993fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K955fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K778fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K925fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K964fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K938fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	993					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TGAAGGTTTCTTTTTTTCTTC	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						11	74	---	---	---	---						-	76937770	T	-	76937770	7	5	33	1	0	1	0	1	0	0	0	0	1208	1609	56	0	4608	0	ATRX	23	76937770	Frame_Shift_Del	DEL	T	TCGA-DB-A4XD-01A-11D-A27K-08	28093	76937770	78332790	46	1334											
ATRX	546	broad.mit.edu	37	chrX	76940500	76940500	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtaatacttaaagcaattcTattaaaagaaaagaggaagg	20	10	8	3	0	1	2	0	0	1	2	1	3	1	3	0	2	2	2	0	2	11	6			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:76940500T>C	uc004ecp.4	-	8	827	c.595_splice	c.e8-1	p.N199_splice	ATRX_uc004ecq.4_Splice_Site_p.N161_splice|ATRX_uc004eco.4_Splice_Site|ATRX_uc004ecr.2_Splice_Site_p.N160_splice|ATRX_uc010nlx.1_Splice_Site_p.N199_splice|ATRX_uc010nly.1_Splice_Site_p.N144_splice	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	199	ADD.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AAAGCAATTCTATTAAAAGAA	0.294			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						5	31					0	0	1	0	0	C	76940500	T	C	76940500	5	2	33	1	0	0	0	0	0	0	1	0	1208	1536	53	4	6997	4	ATRX	23	76940500	Splice_Site	SNP	T	TCGA-DB-A4XD-01A-11D-A27K-08	2730	76940500	78330060	47	1335											
IRS4	8471	broad.mit.edu	37	chrX	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C																															tcccacttcctgagcctttgINSccccccccagagttcttgcc																										TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:107977802_107977803insC	uc004eoc.2	-	0	1805_1806	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	591						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545													7	260	---	---	---	---						C	107977803	-	C	107977802	7	5	33	1	0	1	1	0	0	0	0	0	7842	1306	46	0	2004	0	IRS4	23	107977802	Frame_Shift_Ins	INS	-	TCGA-DB-A4XD-01A-11D-A27K-08	31037302	107977802	47292758	48	1336											
ATP2B3	492	broad.mit.edu	37	chrX	152813393	152813393	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagaaagccaacgcaccCaaaaaggagaagtctgtcct	18	4	9	10	1	1	3	0	0	1	3	2	4	2	3	3	1	2	1	3	1	7	0			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:152813393C>T	uc004fht.1	+	6	1185	c.1059C>T	c.(1057-1059)ccC>ccT	p.P353P	ATP2B3_uc004fhs.1_Silent_p.P353P	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	353					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAACGCACCCAAAAAGGAGA	0.592													18	85					0	0	1	0	0	T	152813393	C	T	152813393	2	4	33	1	0	0	0	0	0	0	0	1	1141	581	21	3		3	ATP2B3	23	152813393	Silent	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08	44835591	152813393	2457167	49	1337											
RNF186	54546	broad.mit.edu	37	chr1	20141126	20141126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagcaggagtaggtgcgCggccaggcgccgggctgcca	6	3	19	13	4	0	0	0	0	0	0	0	1	0	1	4	6	3	3	4	6	1	1	rs41264109		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr1:20141126C>T	uc001bcr.3	-	0	646	c.469G>A	c.(469-471)Gcg>Acg	p.A157T		NM_019062	NP_061935	Q9NXI6	RN186_HUMAN	Homo sapiens ring finger protein 186 (RNF186), mRNA.	157						integral to membrane	zinc ion binding			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGTAGGTGCGCGGCCAGGCGC	0.612													5	200					0	0	1	0	0	T	20141126	C	T	20141126	3	4	34	1	0	0	0	0	1	0	0	0	13469	768	27	1	218	1	RNF186	1	20141126	Missense_Mutation	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08		20141126	229109495	1	1338											
HIPK1	204851	broad.mit.edu	37	chr1	114510515	114510515	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccatgttgtcagacaacaaCaatccagttccctcccttcg	10	10	5	16	1	1	1	1	0	0	1	5	1	4	1	4	0	2	2	4	0	3	3			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr1:114510515C>A	uc001eem.3	+	11	2670	c.2509C>A	c.(2509-2511)Caa>Aaa	p.Q837K	HIPK1_uc001eel.3_Missense_Mutation_p.Q837K|HIPK1_uc001een.3_Missense_Mutation_p.Q837K|HIPK1_uc001eeo.3_Missense_Mutation_p.Q463K|HIPK1_uc001eep.3_Missense_Mutation_p.Q443K|HIPK1_uc001eeq.3_Missense_Mutation_p.Q129K	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	837					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGACAACAACAATCCAGTTC	0.478													18	56					4.63292e-17	5.20022e-17	1	1	0	A	114510515	C	A	114510515	3	1	34	1	0	0	0	0	1	0	0	0	7116	479	17	5	2569	5	HIPK1	1	114510515	Missense_Mutation	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08	94369389	114510515	134740106	2	1339											
PIK3C2B	5287	broad.mit.edu	37	chr1	204425080	204425080	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctggaccaggtcatgcttgCggctcccgggcactgccgtc	4	8	13	16	3	1	0	1	0	0	0	3	1	2	1	4	4	3	3	4	4	0	1			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr1:204425080C>T	uc001haw.3	-	11	2326	c.1847G>A	c.(1846-1848)cGc>cAc	p.R616H	PIK3C2B_uc010pqv.2_Missense_Mutation_p.R616H|PIK3C2B_uc001hax.1_Missense_Mutation_p.R616H|PIK3C2B_uc009xbd.1_Non-coding_Transcript	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	616					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GTCATGCTTGCGGCTCCCGGG	0.612													4	104					0	0	1	0	0	T	204425080	C	T	204425080	3	4	34	1	0	0	0	0	1	0	0	0	11910	768	27	1	3149	1	PIK3C2B	1	204425080	Missense_Mutation	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08	89914565	204425080	44825541	3	1340											
ABCB10	23456	broad.mit.edu	37	chr1	229683292	229683292	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccccggccctgagcccaTctgagaggttttcagtcact	6	9	12	14	1	3	2	2	2	1	1	3	3	3	2	4	3	1	1	4	3	0	2			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr1:229683292T>C	uc001htp.4	-	2	918	c.875A>G	c.(874-876)gAt>gGt	p.D292G		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 10 (ABCB10), nuclear gene encoding mitochondrial protein, mRNA.	292	ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CCTGAGCCCATCTGAGAGGTT	0.567													27	58					0	0	1	0	0	C	229683292	T	C	229683292	3	2	34	1	0	0	0	0	1	0	0	0	41	1435	50	3	1385	3	ABCB10	1	229683292	Missense_Mutation	SNP	T	TCGA-DB-A4XE-01A-11D-A27K-08	25258212	229683292	19567329	4	1341											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								35	32					0	0	1	0	0	T	209113112	C	T	209113112	3	4	34	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08		209113112	34086261	5	1342											
FYCO1	79443	broad.mit.edu	37	chr3	46009087	46009087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccccaggcctcttgcagaCtggagttcacagggaccagg	8	7	12	14	0	2	1	1	0	1	1	3	3	3	3	4	4	1	2	4	4	0	2			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr3:46009087C>T	uc011bal.1	-	6	1851	c.1739G>A	c.(1738-1740)aGt>aAt	p.S580N	FYCO1_uc003cpb.4_Missense_Mutation_p.S580N	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	580					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTCTTGCAGACTGGAGTTCAC	0.632													6	165					0	0	1	0	0	T	46009087	C	T	46009087	3	4	34	1	0	0	0	0	1	0	0	0	6125	565	20	3	2741	3	FYCO1	3	46009087	Missense_Mutation	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08		46009087	152013343	6	1343											
ROBO2	6092	broad.mit.edu	37	chr3	77617553	77617553	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcttcataatccagttgtgCtgactcccaccacggttcag	8	12	8	13	1	3	1	2	1	1	0	5	1	5	1	3	1	1	3	3	1	1	4			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr3:77617553C>T	uc011bgk.2	+	13	2594	c.1951C>T	c.(1951-1953)Ctg>Ttg	p.L651L	ROBO2_uc021xat.1_Silent_p.L663L|ROBO2_uc003dpy.4_Silent_p.L647L|ROBO2_uc003dpz.3_Silent_p.L651L|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	647	Fibronectin type-III 2.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCCAGTTGTGCTGACTCCCAC	0.468													34	67					0	0	1	0	0	T	77617553	C	T	77617553	2	4	34	1	0	0	0	0	0	0	0	1	13514	796	28	3		3	ROBO2	3	77617553	Silent	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08	31608466	77617553	120404877	7	1344											
ARHGAP31	57514	broad.mit.edu	37	chr3	119132892	119132892	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggagcttgccttgtggcTccttccctgctccagtctcc	2	13	10	16	0	1	0	0	0	1	0	5	1	4	1	5	2	3	3	5	2	0	3			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr3:119132892T>G	uc003ecj.4	+	11	2648	c.2116T>G	c.(2116-2118)Tcc>Gcc	p.S706A		NM_020754	NP_065805	Q2M1Z3	RHG31_HUMAN	Homo sapiens Rho GTPase activating protein 31 (ARHGAP31), mRNA.	706	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GCCTTGTGGCTCCTTCCCTGC	0.602													49	149					0	0	1	0	0	G	119132892	T	G	119132892	3	3	34	1	0	0	0	0	1	0	0	0	880	1551	54	5	2162	5	ARHGAP31	3	119132892	Missense_Mutation	SNP	T	TCGA-DB-A4XE-01A-11D-A27K-08	41515339	119132892	78889538	8	1345											
GPRIN3	285513	broad.mit.edu	37	chr4	90170303	90170303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgccactgcctgcacctccGcatcttgccaagccctgctg	5	9	8	19	2	1	0	0	0	1	0	3	0	2	0	6	0	5	3	6	0	1	1			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr4:90170303G>A	uc003hsm.1	-	1	1478	c.959C>T	c.(958-960)gCg>gTg	p.A320V	GPRIN3_uc021xqb.1_Missense_Mutation_p.A320V	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.	320								p.A320V(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CTGCACCTCCGCATCTTGCCA	0.537													5	113					0	0	1	0	0	A	90170303	G	A	90170303	3	1	34	1	0	0	0	0	1	0	0	0	6731	1087	38	1	1375	1	GPRIN3	4	90170303	Missense_Mutation	SNP	G	TCGA-DB-A4XE-01A-11D-A27K-08		90170303	100983973	9	1346											
F2RL1	2150	broad.mit.edu	37	chr5	76129526	76129526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcctttgccgaagtgtccGcactgtaaagcagatgcaag	10	10	10	11	2	1	1	0	0	1	1	3	2	2	1	3	0	3	4	3	0	4	2	rs149001132		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr5:76129526G>A	uc003keo.3	+	1	1269	c.1094G>A	c.(1093-1095)cGc>cAc	p.R365H		NM_005242	NP_005233	P55085	PAR2_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA.	365					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	p.R365H(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CGAAGTGTCCGCACTGTAAAG	0.448													5	306					0	0	1	0	0	A	76129526	G	A	76129526	3	1	34	1	0	0	0	0	1	0	0	0	5344	1087	38	1	1100	1	F2RL1	5	76129526	Missense_Mutation	SNP	G	TCGA-DB-A4XE-01A-11D-A27K-08		76129526	104785734	10	1347											
GABRA6	2559	broad.mit.edu	37	chr5	161119014	161119014	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctttgccaaaagtgtcAtatgccactgccatggattg	10	12	8	11	0	2	0	1	0	1	0	2	1	2	1	3	1	3	0	3	1	3	3			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr5:161119014A>T	uc003lyu.2	+	7	1232	c.894A>T	c.(892-894)tcA>tcT	p.S298S	GABRA6_uc003lyv.2_Silent_p.S69S	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	298					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CAAAAGTGTCATATGCCACTG	0.408										TCGA Ovarian(5;0.080)			8	97					0	0	1	0	0	T	161119014	A	T	161119014	2	4	34	1	0	0	0	0	0	0	0	1	6165	204	8	5		5	GABRA6	5	161119014	Silent	SNP	A	TCGA-DB-A4XE-01A-11D-A27K-08	84989488	161119014	19796246	11	1348											
PDLIM7	9260	broad.mit.edu	37	chr5	176918075	176918075	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactggcctgtccccggccgCggccgccagtcctctgtgtt	2	9	13	17	4	1	0	0	0	1	0	3	1	3	0	7	3	0	1	7	3	0	1	rs145886743		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr5:176918075C>T	uc003mhc.1	-	5	556	c.471G>A	c.(469-471)ccG>ccA	p.P157P	PDLIM7_uc003mha.1_5'UTR|PDLIM7_uc003mhd.1_Silent_p.P9P|PDLIM7_uc003mhe.1_Non-coding_Transcript|PDLIM7_uc003mhb.1_Silent_p.P123P|PDLIM7_uc003mhf.3_Silent_p.P157P|PDLIM7_uc003mhg.1_Silent_p.P157P	NM_005451	NP_005442	Q9NR12	PDLI7_HUMAN	Homo sapiens PDZ and LIM domain 7 (enigma) (PDLIM7), transcript variant 1, mRNA.	157					cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCCCGGCCGCGGCCGCCAGT	0.667													9	16					0	0	1	0	0	T	176918075	C	T	176918075	2	4	34	1	0	0	0	0	0	0	0	1	11684	755	27	1		1	PDLIM7	5	176918075	Silent	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08	15799061	176918075	3997185	12	1349											
GLI3	2737	broad.mit.edu	37	chr7	42007295	42007295	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagcctttctagttttacgTgctccatccatttggtccct	5	18	6	12	1	1	0	0	0	1	0	4	0	4	0	4	1	3	2	4	1	3	6			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr7:42007295T>C	uc011kbh.2	-	13	2421	c.2330A>G	c.(2329-2331)cAc>cGc	p.H777R	GLI3_uc011kbg.2_Missense_Mutation_p.H718R	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	777					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H777D(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TAGTTTTACGTGCTCCATCCA	0.498									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				85	247					0	0	1	0	0	C	42007295	T	C	42007295	3	2	34	1	0	0	0	0	1	0	0	0	6439	1696	59	3	2420	3	GLI3	7	42007295	Missense_Mutation	SNP	T	TCGA-DB-A4XE-01A-11D-A27K-08		42007295	117131368	13	1350											
GNB2	2783	broad.mit.edu	37	chr7	100276231	100276231	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatgccatgaagggcgacCgtgcaggtgacagctggggc	8	5	19	9	2	0	2	0	2	0	0	0	4	0	3	2	5	3	2	2	5	1	0			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr7:100276231C>A	uc003uwb.3	+	8	1183	c.910C>A	c.(910-912)Cgt>Agt	p.R304S	GNB2_uc003uwf.3_Missense_Mutation_p.R204S	NM_005273	NP_005264	P62879	GBB2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 2 (GNB2), mRNA.	304					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				GAAGGGCGACCGTGCAGGTGA	0.632													5	135					1	1	1	1	0	A	100276231	C	A	100276231	3	1	34	1	0	0	0	0	1	0	0	0	6517	652	23	5	940	5	GNB2	7	100276231	Missense_Mutation	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08	58268936	100276231	58862432	14	1351											
SLC7A2	6542	broad.mit.edu	37	chr8	17409358	17409358	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatggcctattttggggtCtctgcagctttaacacttat	7	18	8	8	0	1	0	0	0	1	0	2	0	1	0	1	3	3	2	1	3	4	8			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr8:17409358C>A	uc011kye.2	+	5	1086	c.1038C>A	c.(1036-1038)gtC>gtA	p.V346V	SLC7A2_uc011kyc.2_Silent_p.V306V|SLC7A2_uc011kyd.2_Silent_p.V346V	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	306					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	p.S345C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	ATTTTGGGGTCTCTGCAGCTT	0.438													39	86					8.16277e-20	9.55218e-20	1	1	0	A	17409358	C	A	17409358	2	1	34	1	0	0	0	0	0	0	0	1	14697	900	32	5		5	SLC7A2	8	17409358	Silent	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08		17409358	128954664	15	1352											
GDAP1	54332	broad.mit.edu	37	chr8	75272416	75272416	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ataaagaaagcatgtattacCcacgggtacaacattaccga	17	8	7	9	2	0	1	0	0	0	1	0	2	0	1	2	1	5	3	2	1	8	5			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr8:75272416C>G	uc003yah.3	+	2	434	c.355C>G	c.(355-357)Cca>Gca	p.P119A	GDAP1_uc011lfj.2_Missense_Mutation_p.P4A|GDAP1_uc003yai.3_Missense_Mutation_p.P51A	NM_018972	NP_001035808	Q8TB36	GDAP1_HUMAN	Homo sapiens ganglioside-induced differentiation-associated protein 1 (GDAP1), transcript variant 1, mRNA.	119						cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			CATGTATTACCCACGGGTACA	0.403													53	32					0	0	1	0	0	G	75272416	C	G	75272416	3	3	34	1	0	0	0	0	1	0	0	0	6307	623	22	5	365	5	GDAP1	8	75272416	Missense_Mutation	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08	57863058	75272416	71091606	16	1353											
ZNF707	286075	broad.mit.edu	37	chr8	144776021	144776021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggacagacgccaagcccaCggctttcccgtgtcaggtgc	9	6	12	14	3	1	1	1	0	0	1	2	2	2	2	3	3	2	1	3	3	2	1			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr8:144776021C>T	uc003yze.4	+	6	752	c.437C>T	c.(436-438)aCg>aTg	p.T146M	ZNF707_uc010mfh.3_Missense_Mutation_p.T146M|ZNF707_uc010mfi.3_Missense_Mutation_p.T146M|ZNF707_uc003yzf.4_Missense_Mutation_p.T146M|ZNF707_uc003yzh.4_Missense_Mutation_p.T73M|ZNF707_uc011lkq.1_Non-coding_Transcript	NM_173831	NP_776192	Q96C28	ZN707_HUMAN	Homo sapiens zinc finger protein 707 (ZNF707), transcript variant 1, mRNA.	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCCAAGCCCACGGCTTTCCCG	0.647													7	85					0	0	1	0	0	T	144776021	C	T	144776021	3	4	34	1	0	0	0	0	1	0	0	0	18108	536	19	1	451	1	ZNF707	8	144776021	Missense_Mutation	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08	69503605	144776021	1588001	17	1354											
SPAG8	26206	broad.mit.edu	37	chr9	35811217	35811217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaggaggcactggccccgcgGcaaagtttcatagcaaacca	12	5	12	12	2	1	0	1	0	0	0	1	2	1	1	3	4	2	4	3	4	3	2			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr9:35811217G>A	uc003zye.3	-	1	941	c.826C>T	c.(826-828)Ccg>Tcg	p.P276S	SPAG8_uc003zyg.3_Missense_Mutation_p.P276S	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	Homo sapiens sperm associated antigen 8 (SPAG8), transcript variant 2, mRNA.	276						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			TGGCCCCGCGGCAAAGTTTCA	0.507													6	363					0	0	1	0	0	A	35811217	G	A	35811217	3	1	34	1	0	0	0	0	1	0	0	0	14984	1203	42	3	906	3	SPAG8	9	35811217	Missense_Mutation	SNP	G	TCGA-DB-A4XE-01A-11D-A27K-08		35811217	105402214	18	1355											
MAPK8	5599	broad.mit.edu	37	chr10	49618135	49618135	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcagatggagctagatcAtgaaagaatgtcctaccttc	13	11	9	8	0	2	4	2	1	0	3	4	6	3	5	2	1	2	1	2	1	4	4			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr10:49618135A>G	uc001jgp.3	+	3	423	c.374A>G	c.(373-375)cAt>cGt	p.H125R	MAPK8_uc001jgn.3_Missense_Mutation_p.H125R|MAPK8_uc001jgm.3_Missense_Mutation_p.H125R|MAPK8_uc001jgo.3_Missense_Mutation_p.H125R|MAPK8_uc001jgq.3_Missense_Mutation_p.H125R|MAPK8_uc009xoa.3_Missense_Mutation_p.H125R|MAPK8_uc021ppy.1_Missense_Mutation_p.H125R|MAPK8_uc010qgk.2_Missense_Mutation_p.H125R	NM_139049	NP_620637	P45983	MK08_HUMAN	Homo sapiens mitogen-activated protein kinase 8 (MAPK8), transcript variant JNK1-a2, mRNA.	125	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|histone deacetylase binding|histone deacetylase regulator activity|protein binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		GAGCTAGATCATGAAAGAATG	0.398													17	137					0	0	1	0	0	G	49618135	A	G	49618135	3	3	34	1	0	0	0	0	1	0	0	0	9283	217	8	3	388	3	MAPK8	10	49618135	Missense_Mutation	SNP	A	TCGA-DB-A4XE-01A-11D-A27K-08		49618135	85916612	19	1356											
PNLIPRP1	5407	broad.mit.edu	37	chr10	118357417	118357417	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgatgctgactttgttGatgtgattcacacggatgca	8	14	10	9	1	2	4	1	4	1	0	2	5	2	5	1	1	2	3	1	1	0	3			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr10:118357417G>T	uc001lco.1	+	6	670	c.652G>T	c.(652-654)Gat>Tat	p.D218Y	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.D218Y|PNLIPRP1_uc009xys.1_Non-coding_Transcript	NM_006229	NP_006220	P54315	LIPR1_HUMAN	Homo sapiens pancreatic lipase-related protein 1 (PNLIPRP1), mRNA.	218					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		TGACTTTGTTGATGTGATTCA	0.483													24	64					1.64293e-13	1.73772e-13	1	1	0	T	118357417	G	T	118357417	3	4	34	1	0	0	0	0	1	0	0	0	12150	1290	45	5	674	5	PNLIPRP1	10	118357417	Missense_Mutation	SNP	G	TCGA-DB-A4XE-01A-11D-A27K-08	68739282	118357417	17177330	20	1357											
MARK2	2011	broad.mit.edu	37	chr11	63672397	63672397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcagctccgacaggtgCgggaccagcagaatttgccc	8	6	14	13	2	0	1	0	0	0	1	1	3	1	2	3	3	4	3	3	3	1	1			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr11:63672397C>T	uc001nxw.3	+	15	2395	c.1816C>T	c.(1816-1818)Cgg>Tgg	p.R606W	MARK2_uc001nxv.4_Missense_Mutation_p.R551W|MARK2_uc001nxx.3_Missense_Mutation_p.R552W|MARK2_uc001nxy.3_Missense_Mutation_p.R551W|MARK2_uc001nxz.4_Missense_Mutation_p.R572W|MARK2_uc009yoy.3_Missense_Mutation_p.R526W	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.	606					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CCGACAGGTGCGGGACCAGCA	0.647													5	163					0	0	1	0	0	T	63672397	C	T	63672397	3	4	34	1	0	0	0	0	1	0	0	0	9313	759	27	1	1878	1	MARK2	11	63672397	Missense_Mutation	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08		63672397	71334119	21	1358											
MAML2	84441	broad.mit.edu	37	chr11	95724824	95724824	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtaaccacttccagtgtttgGatttgagcaggggttaggac	9	12	13	7	0	0	1	0	1	0	0	1	3	1	3	2	4	2	4	2	4	2	5			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr11:95724824G>C	uc001pfw.1	-	2	3488	c.2203C>G	c.(2203-2205)Cca>Gca	p.P735A		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA.	735					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CCAGTGTTTGGATTTGAGCAG	0.478			T	"MECT1, CRTC3"	salivary gland mucoepidermoid								5	96					0	0	1	0	0	C	95724824	G	C	95724824	3	2	34	1	0	0	0	0	1	0	0	0	9206	1174	41	5	1279	5	MAML2	11	95724824	Missense_Mutation	SNP	G	TCGA-DB-A4XE-01A-11D-A27K-08	32052427	95724824	39281692	22	1359											
LRP6	4040	broad.mit.edu	37	chr12	12291381	12291381	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcaatcatttgctgctgtTtatcaatccaatagagccag	11	15	6	9	0	3	1	3	0	0	1	4	1	4	1	2	0	3	3	2	0	5	5			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr12:12291381T>A	uc001rah.4	-	15	3627	c.3485A>T	c.(3484-3486)aAa>aTa	p.K1162I	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.K1162I	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	1162	Beta-propeller 4.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TTGCTGCTGTTTATCAATCCA	0.423													73	135					0	0	1	0	0	A	12291381	T	A	12291381	3	1	34	1	0	0	0	0	1	0	0	0	8962	1841	64	5	1388	5	LRP6	12	12291381	Missense_Mutation	SNP	T	TCGA-DB-A4XE-01A-11D-A27K-08		12291381	121560514	23	1360											
TUBA3C	7278	broad.mit.edu	37	chr13	19752464	19752464	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctggcgtaattattggcCgcatcttccttcccggtgat	5	14	9	13	3	2	1	0	1	2	0	4	1	4	1	4	3	0	2	4	3	2	5	rs142499533		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr13:19752464C>T	uc009zzj.3	-	2	402	c.297G>A	c.(295-297)gcG>gcA	p.A99A		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	99					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		AATTATTGGCCGCATCTTCCT	0.522													9	115					0	0	1	0	0	T	19752464	C	T	19752464	2	4	34	1	0	0	0	0	0	0	0	1	16743	639	23	2		2	TUBA3C	13	19752464	Silent	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08		19752464	95417414	24	1361											
TDP1	55775	broad.mit.edu	37	chr14	90455299	90455299	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacgcagagtcctggcctgtCgtaggtcagttttcaagcgt	8	11	12	10	3	2	1	2	0	0	1	4	1	3	1	2	2	2	3	2	2	3	3			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr14:90455299C>T	uc001xxy.3	+	10	1481	c.1182C>T	c.(1180-1182)gtC>gtT	p.V394V	TDP1_uc010atm.3_Non-coding_Transcript|TDP1_uc001xxz.3_Silent_p.V394V|TDP1_uc010atn.3_Silent_p.V394V|TDP1_uc001xya.3_Silent_p.V155V|TDP1_uc001xyb.3_Non-coding_Transcript|TDP1_uc001xyd.1_Silent_p.V9V	NM_018319	NP_060789	Q9NUW8	TYDP1_HUMAN	Homo sapiens tyrosyl-DNA phosphodiesterase 1 (TDP1), transcript variant 1, mRNA.	394					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding	p.V394F(1)|p.P393S(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		CCTGGCCTGTCGTAGGTCAGT	0.448								Repair of DNA-protein crosslinks					4	50					0	0	1	0	0	T	90455299	C	T	90455299	2	4	34	1	0	0	0	0	0	0	0	1	15725	871	31	2		2	TDP1	14	90455299	Silent	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08		90455299	16894241	25	1362											
RPS2	6187	broad.mit.edu	37	chr16	2014319	2014319	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagatctcctccagggacttGatcttcatgtccttgaccaa	9	13	7	12	0	3	3	1	2	2	1	6	4	5	4	4	1	0	0	4	1	2	4			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr16:2014319G>C	uc002cnn.2	-	1	413	c.225C>G	c.(223-225)atC>atG	p.I75M	TCRBV20S1_uc021tak.1_Intron|RPS2_uc002cnm.2_Non-coding_Transcript|RPS2_uc002cno.2_Missense_Mutation_p.I75M|SNORA10_uc002cnp.1_5'Flank|SNORA64_uc002cnq.2_5'Flank|SNHG9_uc002cnr.3_5'Flank|SNORA78_uc002cns.1_5'Flank|RNF151_uc002cnt.1_5'Flank	NM_002952	NP_002943	P15880	RS2_HUMAN	Homo sapiens ribosomal protein S2 (RPS2), mRNA.	75					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	RNA binding|fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						CCAGGGACTTGATCTTCATGT	0.602													26	55					0	0	1	0	0	C	2014319	G	C	2014319	3	2	34	1	0	0	0	0	1	0	0	0	13631	1280	45	5	676	5	RPS2	16	2014319	Missense_Mutation	SNP	G	TCGA-DB-A4XE-01A-11D-A27K-08		2014319	88340434	26	1363											
C16orf45	89927	broad.mit.edu	37	chr16	15661873	15661873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctctgcaaggacatcatGgacttgaagcaggagctgca	12	7	12	10	0	2	1	1	1	1	0	2	4	2	4	0	3	5	5	0	3	2	1			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr16:15661873G>A	uc002ddo.3	+	2	450	c.264G>A	c.(262-264)atG>atA	p.M88I	C16orf45_uc002ddp.3_Missense_Mutation_p.M71I	NM_033201	NP_149978	Q96MC5	CP045_HUMAN	Homo sapiens chromosome 16 open reading frame 45 (C16orf45), transcript variant 1, mRNA.	88								p.I87I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						AGGACATCATGGACTTGAAGC	0.557													15	18					0	0	1	0	0	A	15661873	G	A	15661873	3	1	34	1	0	0	0	0	1	0	0	0	1814	1348	47	3	333	3	C16orf45	16	15661873	Missense_Mutation	SNP	G	TCGA-DB-A4XE-01A-11D-A27K-08	13647554	15661873	74692880	27	1364											
IL27	246778	broad.mit.edu	37	chr16	28510981	28510981	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagccaccgatcagggctgGgggctcaatgttgggaaccc	9	6	15	11	1	2	0	2	0	0	0	2	3	2	1	3	4	2	3	3	4	3	1			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr16:28510981G>A	uc002dqc.3	-	4	746	c.723C>T	c.(721-723)ccC>ccT	p.P241P	NPIPL1_uc010vct.2_Intron	NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN	Homo sapiens interleukin 27 (IL27), mRNA.	241					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation|regulation of defense response to virus	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						ATCAGGGCTGGGGGCTCAATG	0.607													3	23					0	0	1	0	0	A	28510981	G	A	28510981	2	1	34	1	0	0	0	0	0	0	0	1	7680	1219	43	3		3	IL27	16	28510981	Silent	SNP	G	TCGA-DB-A4XE-01A-11D-A27K-08	12849108	28510981	61843772	28	1365											
SGSM2	9905	broad.mit.edu	37	chr17	2282481	2282481	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatggacttcactgacatCatcaagtttttcaatggtac	13	13	6	9	0	4	1	4	1	0	0	4	2	4	2	0	2	2	2	0	2	4	4			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr17:2282481C>A	uc002fum.4	+	22	3228	c.3051C>A	c.(3049-3051)atC>atA	p.I1017I	SGSM2_uc002fun.4_Silent_p.I972I|SGSM2_uc010vqw.2_Silent_p.I972I|SGSM2_uc002fuq.3_Silent_p.I134I	NM_014853	NP_055668	O43147	SGSM2_HUMAN	Homo sapiens small G protein signaling modulator 2 (SGSM2), transcript variant 1, mRNA.	972						intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		TCACTGACATCATCAAGTTTT	0.582													26	71					7.26314e-15	7.8328e-15	1	1	0	A	2282481	C	A	2282481	2	1	34	1	0	0	0	0	0	0	0	1	14223	816	29	5		5	SGSM2	17	2282481	Silent	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08		2282481	78912729	29	1366											
TP53	7157	broad.mit.edu	37	chr17	7577559	7577559	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggttcatgccgcccatgcagGaactgttacacatgtagttg	9	11	11	10	1	1	0	1	0	0	0	1	1	1	1	2	2	4	5	2	2	3	4	rs28934573		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr17:7577559G>T	uc002gim.2	-	6	916	c.722C>A	c.(721-723)tCc>tAc	p.S241Y	TP53_uc002gig.1_Missense_Mutation_p.S241Y|TP53_uc002gih.3_Missense_Mutation_p.S241Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.S109Y|TP53_uc010cnf.1_Missense_Mutation_p.S109Y|TP53_uc002gii.1_Missense_Mutation_p.S109Y|TP53_uc010cni.1_Missense_Mutation_p.S241Y|TP53_uc010cnh.1_Missense_Mutation_p.S241Y|TP53_uc002gij.2_Missense_Mutation_p.S241Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.S148Y|TP53_uc002gio.2_Missense_Mutation_p.S109Y|DL476309_uc021tpg.1_Splice_Site|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	241	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S241F(163)|p.S241C(50)|p.S241Y(16)|p.S240G(14)|p.S241del(10)|p.S241A(9)|p.S240R(9)|p.S241fs*6(9)|p.0?(8)|p.N239_C242delNSSC(6)|p.S240I(6)|p.S241T(6)|p.C242fs*5(6)|p.?(5)|p.S148F(4)|p.S240C(3)|p.S241S(3)|p.S241P(3)|p.S241fs*22(3)|p.N239_S240insX(2)|p.Y236_M243delYMCNSSCM(2)|p.C238_M246delCNSSCMGGM(2)|p.S240S(2)|p.S240T(2)|p.S240fs*7(2)|p.H233_C242del10(2)|p.N239_C242>S(2)|p.N239_S240delNS(2)|p.S241_G245delSCMGG(2)|p.N239_C242del(2)|p.N239_S240insN(1)|p.S148C(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.S240P(1)|p.S241_C242insX(1)|p.S240fs*23(1)|p.C238fs*21(1)|p.S241fs*7(1)|p.S240fs*26(1)|p.S241fs*23(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)		GCCCATGCAGGAACTGTTACA	0.572		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)			31	43					6.00712e-18	6.88316e-18	1	1	0	T	7577559	G	T	7577559	3	4	34	1	0	0	0	0	1	0	0	0	16378	1174	41	5	568	5	TP53	17	7577559	Missense_Mutation	SNP	G	TCGA-DB-A4XE-01A-11D-A27K-08	5295078	7577559	73617651	30	1367											
TP53	7157	broad.mit.edu	37	chr17	7579592	7579592	+	Splice_Site	DEL	T	T	-																															cttgggacggcaagggggacTgtagatgggtgaaaagagca																										TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr17:7579592delT	uc002gim.2	-	4	291	c.97_splice	c.e4-1	p.S33_splice	TP53_uc002gig.1_Splice_Site_p.S33_splice|TP53_uc002gih.3_Splice_Site_p.S33_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Splice_Site_p.S33_splice|TP53_uc010cnh.1_Splice_Site_p.S33_splice|TP53_uc002gij.2_Splice_Site_p.S33_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Splice_Site|TP53_uc010cnk.1_Intron	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	33	Interaction with HRMT1L2.|Transcription activation (acidic).		S -> T (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(15)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(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)		CAAGGGGGACTGTAGATGGGT	0.597		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)			170	212	---	---	---	---						-	7579592	T	-	7579592	8	5	34	1	0	1	0	1	0	0	1	0	16378	1594	55	0	1207	0	TP53	17	7579592	Splice_Site	DEL	T	TCGA-DB-A4XE-01A-11D-A27K-08	2033	7579592	73615618	31	1368											
BZRAP1	9256	broad.mit.edu	37	chr17	56393488	56393488	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattgggaccctcaaaggggTtgtagctgttaggggaggca	9	9	16	7	0	1	0	1	0	0	0	1	2	1	2	1	6	1	5	1	6	3	4			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr17:56393488T>C	uc002ivx.4	-	15	2865	c.1994A>G	c.(1993-1995)aAc>aGc	p.N665S	BZRAP1_uc010dcs.3_Missense_Mutation_p.N605S|BZRAP1_uc010wnt.2_Missense_Mutation_p.N665S	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	665	SH3 1.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCAAAGGGGTTGTAGCTGTT	0.522													6	71					0	0	1	0	0	C	56393488	T	C	56393488	3	2	34	1	0	0	0	0	1	0	0	0	1577	1725	60	3	3643	3	BZRAP1	17	56393488	Missense_Mutation	SNP	T	TCGA-DB-A4XE-01A-11D-A27K-08	48813896	56393488	24801722	32	1369											
EMILIN2	84034	broad.mit.edu	37	chr18	2891077	2891077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaactctaccaagcctatGtggacagtaagatcgacgcc	13	7	9	12	3	1	1	0	0	1	1	2	4	1	2	3	1	3	1	3	1	5	3			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr18:2891077G>A	uc002kln.3	+	3	1111	c.952G>A	c.(952-954)Gtg>Atg	p.V318M		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	318					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	p.Y317N(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CCAAGCCTATGTGGACAGTAA	0.547													96	100					0	0	1	0	0	A	2891077	G	A	2891077	3	1	34	1	0	0	0	0	1	0	0	0	5094	1377	48	3	966	3	EMILIN2	18	2891077	Missense_Mutation	SNP	G	TCGA-DB-A4XE-01A-11D-A27K-08		2891077	75186171	33	1370											
TTR	7276	broad.mit.edu	37	chr18	29172888	29172888	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatccaagtgtcctctgatGgtcaaagttctagatgctgt	10	13	10	8	0	3	2	1	1	2	1	5	3	5	2	2	1	1	2	2	1	4	2			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr18:29172888G>A	uc002kwx.4	+	1	235	c.99G>A	c.(97-99)atG>atA	p.M33I		NM_000371	NP_000362	P02766	TTHY_HUMAN	Homo sapiens transthyretin (TTR), mRNA.	33			M -> I.		transport	cytoplasm	hormone activity			cervix(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	13			OV - Ovarian serous cystadenocarcinoma(10;0.00523)		Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279)	GTCCTCTGATGGTCAAAGTTC	0.483													7	73					0	0	1	0	0	A	29172888	G	A	29172888	3	1	34	1	0	0	0	0	1	0	0	0	16735	1348	47	3	105	3	TTR	18	29172888	Missense_Mutation	SNP	G	TCGA-DB-A4XE-01A-11D-A27K-08	26281811	29172888	48904360	34	1371											
ZNF600	162966	broad.mit.edu	37	chr19	53269553	53269553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgaattctagtatgttttgCcagataggaatgacacgcaa	14	12	9	6	1	1	3	0	2	1	1	1	4	1	4	1	1	1	3	1	1	6	6			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr19:53269553C>T	uc002qab.4	-	2	1742	c.1456G>A	c.(1456-1458)Gca>Aca	p.A486T	ZNF600_uc021uyz.1_Missense_Mutation_p.A486T	NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	Homo sapiens zinc finger protein 600 (ZNF600), mRNA.	486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A486S(2)		breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		GTATGTTTTGCCAGATAGGAA	0.428													4	182					0	0	1	0	0	T	53269553	C	T	53269553	3	4	34	1	0	0	0	0	1	0	0	0	18027	739	26	3	716	3	ZNF600	19	53269553	Missense_Mutation	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08		53269553	5859430	35	1372											
NLGN3	54413	broad.mit.edu	37	chrX	70367670	70367670	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttggcaggagcctgtgccTcaccctgtggttcctcagtt	4	12	13	12	0	2	0	2	0	0	0	3	1	3	1	4	4	2	4	4	4	0	3			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chrX:70367670T>A	uc004dzd.2	+	1	405	c.71T>A	c.(70-72)cTc>cAc	p.L24H	NLGN3_uc004dzb.3_Missense_Mutation_p.L24H|NLGN3_uc011mps.2_Missense_Mutation_p.L24H|NLGN3_uc004dzc.3_Intron|NLGN3_uc011mpr.1_Missense_Mutation_p.L24H	NM_181303	NP_851820	Q9NZ94	NLGN3_HUMAN	Homo sapiens neuroligin 3 (NLGN3), transcript variant 1, mRNA.	24					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					AGCCTGTGCCTCACCCTGTGG	0.662													15	18					0	0	1	0	0	A	70367670	T	A	70367670	3	1	34	1	0	0	0	0	1	0	0	0	10463	1551	54	5	73	5	NLGN3	23	70367670	Missense_Mutation	SNP	T	TCGA-DB-A4XE-01A-11D-A27K-08		70367670	84902890	36	1373											
ATRX	546	broad.mit.edu	37	chrX	76944338	76944339	+	Frame_Shift_Del	DEL	GT	GT	-																															ataagaacttgcaatgaaggGtgtctataaatggaatcttt																										TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chrX:76944338_76944339delGT	uc004ecp.4	-	6	798_799	c.566_567delAC	c.(565-567)cacfs	p.H189fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.H151fs|ATRX_uc004eco.4_5'UTR|ATRX_uc004ecr.2_Frame_Shift_Del_p.H150fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.H189fs|ATRX_uc010nly.1_Frame_Shift_Del_p.H134fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	189	ADD.		Missing (in ATRX).		DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GCAATGAAGGGTGTCTATAAAT	0.391			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						31	90	---	---	---	---						-	76944339	GT	-	76944338	7	5	34	1	0	1	0	1	0	0	0	0	1208	1252	44	0	7027	0	ATRX	23	76944338	Frame_Shift_Del	DEL	GT	TCGA-DB-A4XE-01A-11D-A27K-08	6576668	76944338	78326222	37	1374											
NRK	203447	broad.mit.edu	37	chrX	105178375	105178375	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcagatttttctgccaaTcactcatctccttccaaagg	11	13	4	13	0	5	1	3	0	2	1	7	1	6	1	3	1	1	0	3	1	3	3			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chrX:105178375T>A	uc004emd.3	+	19	3741	c.3438T>A	c.(3436-3438)aaT>aaA	p.N1146K	NRK_uc010npc.1_Missense_Mutation_p.N814K	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1146							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTTCTGCCAATCACTCATCTC	0.433										HNSCC(51;0.14)			44	61					0	0	1	0	0	A	105178375	T	A	105178375	3	1	34	1	0	0	0	0	1	0	0	0	10655	1432	50	5	3516	5	NRK	23	105178375	Missense_Mutation	SNP	T	TCGA-DB-A4XE-01A-11D-A27K-08	28234037	105178375	50092185	38	1375											
IDS	3423	broad.mit.edu	37	chrX	148568542	148568542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccggaagtgaagccgtccttCcaggaacatagaatatcagg	13	7	11	10	2	1	2	1	1	0	1	3	4	3	4	4	3	2	0	4	3	6	3			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chrX:148568542C>T	uc011mxe.2	-	7	1311	c.1094G>A	c.(1093-1095)gGa>gAa	p.G365E	IDS_uc011mxd.2_Intron|IDS_uc011mxf.2_Missense_Mutation_p.G275E|IDS_uc011mxg.2_Missense_Mutation_p.G154E|IDS_uc010nsu.2_5'UTR|IDS_uc004fcw.4_Missense_Mutation_p.G154E	NM_000202	NP_000193	P22304	IDS_HUMAN	Homo sapiens iduronate 2-sulfatase (IDS), transcript variant 1, mRNA.	365						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AGCCGTCCTTCCAGGAACATA	0.473													4	69					0	0	1	0	0	T	148568542	C	T	148568542	3	4	34	1	0	0	0	0	1	0	0	0	7503	855	30	3	566	3	IDS	23	148568542	Missense_Mutation	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08	43390167	148568542	6702018	39	1376											
MAGEA12	4111	broad.mit.edu	37	chrX	151900225	151900225	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttgggcacgatctgattGtcgcccagcaggccatcgta	7	10	12	12	3	2	1	0	1	2	0	4	2	2	1	2	2	1	3	2	2	1	3			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chrX:151900225G>T	uc022chj.1	-	0	576	c.576C>A	c.(574-576)gaC>gaA	p.D192E	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Missense_Mutation_p.D192E|MAGEA12_uc022chi.1_Missense_Mutation_p.D192E|MAGEA12_uc004fgc.3_Missense_Mutation_p.D192E	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	192	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CGATCTGATTGTCGCCCAGCA	0.577													15	225					1.37285e-15	1.51014e-15	1	1	0	T	151900225	G	T	151900225	3	4	34	1	0	0	0	0	1	0	0	0	9166	1368	48	5	372	5	MAGEA12	23	151900225	Missense_Mutation	SNP	G	TCGA-DB-A4XE-01A-11D-A27K-08	3331683	151900225	3370335	40	1377											
EIF3I	8668	broad.mit.edu	37	chr1	32688225	32688225	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctttactgtggccaaGgaccctgtgagtgttggctg	5	13	12	11	0	1	1	0	1	1	0	2	2	2	2	3	3	1	2	3	3	2	3			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr1:32688225G>A	uc001bur.4	+	2	623	c.90G>A	c.(88-90)aaG>aaA	p.K30K	TMEM234_uc001buo.3_5'Flank|TMEM234_uc001bup.3_5'Flank|TMEM234_uc009vub.1_5'Flank|TMEM234_uc010oha.2_5'Flank|TMEM234_uc001buq.4_5'Flank|EIF3I_uc009vuc.3_Silent_p.K30K	NM_003757	NP_003748	Q13347	EIF3I_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit I (EIF3I), mRNA.	30						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				CTGTGGCCAAGGACCCTGTGA	0.587													39	73					0	0	1	0	0	A	32688225	G	A	32688225	2	1	35	1	0	0	0	0	0	0	0	1	5019	991	35	3		3	EIF3I	1	32688225	Silent	SNP	G	TCGA-DB-A4XF-01A-11D-A27K-08		32688225	216562396	1	1378											
ARHGAP29	9411	broad.mit.edu	37	chr1	94655635	94655635	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatgtggaagaggttaactGttacctatggacccagagac	12	9	12	8	0	0	2	0	0	0	2	0	5	0	4	2	3	2	3	2	3	4	3			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr1:94655635G>C	uc001dqj.4	-	12	1655	c.1286C>G	c.(1285-1287)aCa>aGa	p.T429R	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_5'UTR	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	429					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GAGGTTAACTGTTACCTATGG	0.423													5	29					0	0	1	0	0	C	94655635	G	C	94655635	3	2	35	1	0	0	0	0	1	0	0	0	878	1377	48	5	2543	5	ARHGAP29	1	94655635	Missense_Mutation	SNP	G	TCGA-DB-A4XF-01A-11D-A27K-08	61967410	94655635	154594986	2	1379											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220344243	220344245	+	In_Frame_Del	DEL	CTT	CTT	-																															cttcagcttaccttttcctcCttctaataactttttaacag																										TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr1:220344243_220344245delCTT	uc010puk.1	-	23	2959_2961	c.2795_2797delAAG	c.(2794-2799)gaagga>gga	p.E932del	RAB3GAP2_uc021pjf.1_In_Frame_Del_p.E932del|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_In_Frame_Del_p.E512del	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	932					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CCTTTTCCTCCTTCTAATAACTT	0.389													20	41	---	---	---	---						-	220344245	CTT	-	220344243	7	5	35	1	0	1	0	1	0	0	0	0	12936	690	24	0	1432	0	RAB3GAP2	1	220344243	In_Frame_Del	DEL	CTT	TCGA-DB-A4XF-01A-11D-A27K-08	125688608	220344243	28906378	3	1380											
TTC7A	57217	broad.mit.edu	37	chr2	47233147	47233149	+	In_Frame_Del	DEL	CCT	CCT	-																															aatgccgcagccatctatgaCctcctgagcatcacgttggg																										TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr2:47233147_47233149delCCT	uc010fbb.3	+	8	1520_1522	c.1152_1154delCCT	c.(1150-1155)gacctc>gac	p.L386del	TTC7A_uc002rvm.3_In_Frame_Del_p.L352del|TTC7A_uc002rvn.1_In_Frame_Del_p.L267del|TTC7A_uc002rvo.3_In_Frame_Del_p.L386del|TTC7A_uc010fbc.3_In_Frame_Del_p.L32del|TTC7A_uc002rvp.3_In_Frame_Del_p.L267del|TTC7A_uc002rvq.3_In_Frame_Del_p.L126del|TTC7A_uc002rvr.3_5'UTR	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA.	386							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CCATCTATGACCTCCTGAGCATC	0.626													8	74	---	---	---	---						-	47233149	CCT	-	47233147	7	5	35	1	0	1	0	1	0	0	0	0	16709	506	18	0	1186	0	TTC7A	2	47233147	In_Frame_Del	DEL	CCT	TCGA-DB-A4XF-01A-11D-A27K-08		47233147	195966226	4	1381											
TANK	10010	broad.mit.edu	37	chr2	162036208	162036208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcgagcaactcaataaagCgtatgaagccttccggcagg	12	7	12	10	3	1	1	1	1	0	0	2	2	2	1	2	3	4	3	2	3	6	3			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr2:162036208C>T	uc002ubs.3	+	1	143	c.35C>T	c.(34-36)gCg>gTg	p.A12V	TANK_uc002ubq.1_Missense_Mutation_p.A12V|TANK_uc002ubr.2_Missense_Mutation_p.A12V	NM_001199135	NP_001186064	Q92844	TANK_HUMAN	Homo sapiens TRAF family member-associated NFKB activator (TANK), transcript variant 3, mRNA.	12						cytosol	metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						CTCAATAAAGCGTATGAAGCC	0.393													30	36					0	0	1	0	0	T	162036208	C	T	162036208	3	4	35	1	0	0	0	0	1	0	0	0	15543	768	27	1	37	1	TANK	2	162036208	Missense_Mutation	SNP	C	TCGA-DB-A4XF-01A-11D-A27K-08	114803061	162036208	81163165	5	1382											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr2:209113113G>A	uc002vcs.3	-	3	640	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_uc002vct.3_Missense_Mutation_p.R132C|IDH1_uc002vcu.3_Missense_Mutation_p.R132C	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								30	46					0	0	1	0	0	A	209113113	G	A	209113113	3	1	35	1	0	0	0	0	1	0	0	0	7494	1058	37	2	878	2	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-DB-A4XF-01A-11D-A27K-08	47076905	209113113	34086260	6	1383											
SRPRB	58477	broad.mit.edu	37	chr3	133525498	133525500	+	In_Frame_Del	DEL	TTC	TTC	-																															aaggagcagtcagagagctgTtcttcttgttggcctttgtg																										TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr3:133525498_133525500delTTC	uc003epx.2	+	2	485_487	c.200_202delTTC	c.(199-204)gttctt>gtt	p.L69del		NM_021203	NP_067026	Q9Y5M8	SRPRB_HUMAN	Homo sapiens signal recognition particle receptor, B subunit (SRPRB), mRNA.	69						endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity			breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						CAGAGAGCTGTTCTTCTTGTTGG	0.399													20	53	---	---	---	---						-	133525500	TTC	-	133525498	7	5	35	1	0	1	0	1	0	0	0	0	15162	1725	60	0	206	0	SRPRB	3	133525498	In_Frame_Del	DEL	TTC	TCGA-DB-A4XF-01A-11D-A27K-08		133525498	64496932	7	1384											
PRMT10	90826	broad.mit.edu	37	chr4	148575687	148575687	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgacaagatacttccatcAtcacatggtctccaggcttt	10	13	6	12	0	3	2	2	1	1	1	5	2	4	2	2	2	1	1	2	2	2	4			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr4:148575687A>G	uc003ilc.3	-	8	1503	c.1361T>C	c.(1360-1362)aTg>aCg	p.M454T	PRMT10_uc003ilb.3_Missense_Mutation_p.M98T|PRMT10_uc003ild.3_Missense_Mutation_p.M341T	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	Homo sapiens protein arginine methyltransferase 10 (putative) (PRMT10), mRNA.	454						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TACTTCCATCATCACATGGTC	0.358													19	46					0	0	1	0	0	G	148575687	A	G	148575687	3	3	35	1	0	0	0	0	1	0	0	0	12536	217	8	3	1192	3	PRMT10	4	148575687	Missense_Mutation	SNP	A	TCGA-DB-A4XF-01A-11D-A27K-08		148575687	42578589	8	1385											
GIN1	54826	broad.mit.edu	37	chr5	102440512	102440513	+	Frame_Shift_Del	DEL	TG	TG	-																															tgtttcggtgctacaataacTgtattttttgccacttggca																										TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr5:102440512_102440513delTG	uc003koa.1	-	3	453_454	c.371_372delCA	c.(370-372)acafs	p.T124fs	GIN1_uc003kob.1_5'UTR|GIN1_uc003koc.1_Frame_Shift_Del_p.T124fs	NM_017676	NP_060146	Q9NXP7	GIN1_HUMAN	Homo sapiens gypsy retrotransposon integrase 1 (GIN1), mRNA.	124					DNA integration		DNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		CTACAATAACTGTATTTTTTGC	0.386													9	60	---	---	---	---						-	102440513	TG	-	102440512	7	5	35	1	0	1	0	1	0	0	0	0	6386	1567	55	0	1216	0	GIN1	5	102440512	Frame_Shift_Del	DEL	TG	TCGA-DB-A4XF-01A-11D-A27K-08		102440512	78474748	9	1386											
MAML1	9794	broad.mit.edu	37	chr5	179201423	179201423	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttcactgcagcctccagtTtccacatgcagcagcaggcc	8	8	8	17	0	1	0	1	0	0	0	3	0	3	0	5	1	5	5	5	1	0	2			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr5:179201423T>C	uc003mkm.3	+	4	2859	c.2596T>C	c.(2596-2598)Ttc>Ctc	p.F866L	MAML1_uc003mkn.1_Intron	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.	866					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCCTCCAGTTTCCACATGCA	0.607													28	53					0	0	1	0	0	C	179201423	T	C	179201423	3	2	35	1	0	0	0	0	1	0	0	0	9205	1841	64	3	2614	3	MAML1	5	179201423	Missense_Mutation	SNP	T	TCGA-DB-A4XF-01A-11D-A27K-08	76760911	179201423	1713837	10	1387											
HLA-F	3134	broad.mit.edu	37	chr6	29694761	29694761	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctgcctccggagtcacAgtgtcttgggccgccggaag	5	8	16	12	3	2	0	1	0	1	0	3	2	3	2	4	4	1	1	4	4	1	1			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr6:29694761A>G	uc003nno.4	+	6	1262	c.1138A>G	c.(1138-1140)Agt>Ggt	p.S380G	HLA-F_uc011dlx.1_Missense_Mutation_p.S380G|HLA-F_uc011dly.1_Non-coding_Transcript|HLA-F-AS1_uc003nnp.2_Non-coding_Transcript|HLA-F-AS1_uc011dlz.1_Non-coding_Transcript	NM_001098479	NP_001091949	P30511	HLAF_HUMAN	Homo sapiens major histocompatibility complex, class I, F (HLA-F), transcript variant 1, mRNA.	0					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CCGGAGTCACAGTGTCTTGGG	0.512													71	98					0	0	1	0	0	G	29694761	A	G	29694761	3	3	35	1	0	0	0	0	1	0	0	0	7211	188	7	4	1173	4	HLA-F	6	29694761	Missense_Mutation	SNP	A	TCGA-DB-A4XF-01A-11D-A27K-08		29694761	141420306	11	1388											
TRIM55	84675	broad.mit.edu	37	chr8	67086746	67086746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctccagggacaggctgcagCtccagcgagtggcagtggag	8	5	16	12	1	0	0	0	0	0	0	2	3	2	2	3	4	3	4	3	4	0	0			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr8:67086746C>T	uc003xvv.3	+	9	1791	c.1565C>T	c.(1564-1566)gCt>gTt	p.A522V	TRIM55_uc003xvu.3_3'UTR|TRIM55_uc003xvw.3_Missense_Mutation_p.A426V|TRIM55_uc003xvx.3_Missense_Mutation_p.A215V	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	522						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CAGGCTGCAGCTCCAGCGAGT	0.478													39	96					0	0	1	0	0	T	67086746	C	T	67086746	3	4	35	1	0	0	0	0	1	0	0	0	16526	797	28	3	1695	3	TRIM55	8	67086746	Missense_Mutation	SNP	C	TCGA-DB-A4XF-01A-11D-A27K-08		67086746	79277276	12	1389											
KIAA1161	57462	broad.mit.edu	37	chr9	34371509	34371509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctggggtccggcagcggcCggtaggtgctgaagtcccgc	4	6	18	13	5	0	1	0	1	0	0	2	1	2	1	3	6	2	4	3	6	2	1			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr9:34371509C>T	uc003zue.4	-	2	1597	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	Homo sapiens KIAA1161 (KIAA1161), mRNA.	478					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CGGCAGCGGCCGGTAGGTGCT	0.677													10	23					0	0	1	0	0	T	34371509	C	T	34371509	3	4	35	1	0	0	0	0	1	0	0	0	8211	652	23	2	715	2	KIAA1161	9	34371509	Missense_Mutation	SNP	C	TCGA-DB-A4XF-01A-11D-A27K-08		34371509	106841922	13	1390											
CCIN	881	broad.mit.edu	37	chr9	36170045	36170045	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacctgttatctttggccgCctgctccgtgatgaaaacct	7	12	8	14	2	1	2	0	2	1	0	2	2	2	2	6	1	2	2	6	1	3	2			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr9:36170045C>A	uc003zzb.4	+	0	657	c.546C>A	c.(544-546)cgC>cgA	p.R182R		NM_005893	NP_005884	Q13939	CALI_HUMAN	Homo sapiens calicin (CCIN), mRNA.	182	BACK.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TCTTTGGCCGCCTGCTCCGTG	0.542													23	41					2.39556e-15	2.39556e-15	1	1	0	A	36170045	C	A	36170045	2	1	35	1	0	0	0	0	0	0	0	1	2878	726	26	5		5	CCIN	9	36170045	Silent	SNP	C	TCGA-DB-A4XF-01A-11D-A27K-08	1798536	36170045	105043386	14	1391											
LDLRAD3	143458	broad.mit.edu	37	chr11	36057651	36057652	+	Splice_Site	DEL	AG	AG	-																															acctgtcccctctctctgacAgagagccagctgctccccgg																										TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr11:36057651_36057652delAG	uc001mwk.1	+	2	84	c.47_splice	c.e2-1	p.E16_splice	LDLRAD3_uc010rey.1_Intron|LDLRAD3_uc010rez.1_Intron	NM_174902	NP_777562	Q86YD5	LRAD3_HUMAN	Homo sapiens low density lipoprotein receptor class A domain containing 3 (LDLRAD3), mRNA.	16						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				TCTCTCTGACAGAGAGCCAGCT	0.574													10	72	---	---	---	---						-	36057652	AG	-	36057651	8	5	35	1	0	1	0	1	0	0	1	0	8707	202	7	0	51	0	LDLRAD3	11	36057651	Splice_Site	DEL	AG	TCGA-DB-A4XF-01A-11D-A27K-08		36057651	98948865	15	1392											
SCN4B	6330	broad.mit.edu	37	chr11	118014578	118014578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttggaggaagatggtggCgtggtgctggagattattct	8	12	17	4	1	1	2	0	0	1	2	1	6	1	4	0	6	1	1	0	6	2	3			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr11:118014578C>T	uc001pse.3	-	2	675	c.433G>A	c.(433-435)Gcc>Acc	p.A145T	SCN4B_uc010rxu.2_Missense_Mutation_p.A35T|SCN4B_uc010rxv.2_Intron	NM_174934	NP_001135821	Q8IWT1	SCN4B_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, beta (SCN4B), transcript variant 1, mRNA.	145	Ig-like C2-type.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)		AAGATGGTGGCGTGGTGCTGG	0.547													25	35					0	0	1	0	0	T	118014578	C	T	118014578	3	4	35	1	0	0	0	0	1	0	0	0	13921	768	27	1	265	1	SCN4B	11	118014578	Missense_Mutation	SNP	C	TCGA-DB-A4XF-01A-11D-A27K-08	81956927	118014578	16991938	16	1393											
DUSP16	80824	broad.mit.edu	37	chr12	12673837	12673840	+	Frame_Shift_Del	DEL	TAAT	TAAT	-																															tgaatgctggatgagctctgTaattaacactttgtcctgtt																										TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr12:12673837_12673840delTAAT	uc001rao.2	-	1	956_959	c.193_196delATTA	c.(193-198)attacafs	p.I65fs	DUSP16_uc001ran.2_5'UTR	NM_030640	NP_085143	Q9BY84	DUS16_HUMAN	Homo sapiens dual specificity phosphatase 16 (DUSP16), mRNA.	65	Rhodanese.				MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive|inactivation of MAPK activity	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		ATGAGCTCTGTAATTAACACTTTG	0.377													7	101	---	---	---	---						-	12673840	TAAT	-	12673837	7	5	35	1	0	1	0	1	0	0	0	0	4816	1638	57	0	1825	0	DUSP16	12	12673837	Frame_Shift_Del	DEL	TAAT	TCGA-DB-A4XF-01A-11D-A27K-08		12673837	121178058	17	1394											
CAND1	55832	broad.mit.edu	37	chr12	67704094	67704094	+	Frame_Shift_Del	DEL	A	A	-																															tgaaggaccattatgatattAaggtaagatgtttgtgccta																										TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr12:67704094delA	uc001stn.2	+	12	3795	c.3358delA	c.(3358-3360)aagfs	p.K1120fs	CAND1_uc001sto.2_Frame_Shift_Del_p.K630fs	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.	1120					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TTATGATATTAAGGTAAGATG	0.328													21	26	---	---	---	---						-	67704094	A	-	67704094	7	5	35	1	0	1	0	1	0	0	0	0	2615	363	13	0	3408	0	CAND1	12	67704094	Frame_Shift_Del	DEL	A	TCGA-DB-A4XF-01A-11D-A27K-08	55030257	67704094	66147801	18	1395											
DEPDC4	120863	broad.mit.edu	37	chr12	100656178	100656178	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggatttgaaatcatttcAtatcctggtctgttaaaaaa	15	14	7	5	0	3	2	2	1	1	1	4	3	4	3	1	2	0	1	1	2	5	4			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr12:100656178A>C	uc009ztv.1	-	2	567	c.564T>G	c.(562-564)taT>taG	p.Y188*	DEPDC4_uc001thh.1_Non-coding_Transcript|DEPDC4_uc001thi.3_Nonsense_Mutation_p.Y188*|DEPDC4_uc001thj.1_Nonsense_Mutation_p.Y121*|DEPDC4_uc001thk.1_5'UTR|DEPDC4_uc001thl.1_Non-coding_Transcript	NM_152317	NP_689530	Q8N2C3	DEPD4_HUMAN	Homo sapiens DEP domain containing 4 (DEPDC4), mRNA.	188					intracellular signal transduction					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						AAATCATTTCATATCCTGGTC	0.279													16	49					0	0	1	0	0	C	100656178	A	C	100656178	4	2	35	1	0	0	0	0	0	1	0	0	4441	224	8	5	332	5	DEPDC4	12	100656178	Nonsense_Mutation	SNP	A	TCGA-DB-A4XF-01A-11D-A27K-08	32952084	100656178	33195717	19	1396											
CCDC135	84229	broad.mit.edu	37	chr16	57732851	57732851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacacctgctgcaggtggCagacaacttctcccgccagt	9	7	11	14	1	1	1	0	0	1	1	2	2	1	2	3	3	4	3	3	3	2	1			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr16:57732851C>T	uc002emi.3	+	2	382	c.293C>T	c.(292-294)gCa>gTa	p.A98V	CCDC135_uc002emj.3_Missense_Mutation_p.A98V|CCDC135_uc002emk.3_Missense_Mutation_p.A98V	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	98						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CTGCAGGTGGCAGACAACTTC	0.572													78	156					0	0	1	0	0	T	57732851	C	T	57732851	3	4	35	1	0	0	0	0	1	0	0	0	2769	710	25	3	299	3	CCDC135	16	57732851	Missense_Mutation	SNP	C	TCGA-DB-A4XF-01A-11D-A27K-08		57732851	32621902	20	1397											
CHMP1A	5119	broad.mit.edu	37	chr16	89713000	89713000	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggcagaggcgccctcgggCagctggctgagctggtccag	6	5	17	13	3	0	2	0	1	0	1	2	2	1	2	2	5	2	5	2	5	0	0			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr16:89713000C>T	uc002fnu.3	-	5	637	c.504G>A	c.(502-504)ctG>ctA	p.L168L	CHMP1A_uc002fnt.3_Missense_Mutation_p.A57T|CHMP1A_uc002fnv.3_Missense_Mutation_p.A162T	NM_002768	NP_002759	Q9HD42	CHM1A_HUMAN	Homo sapiens charged multivesicular body protein 1A (CHMP1A), transcript variant 2, mRNA.	168					cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		CGCCCTCGGGCAGCTGGCTGA	0.677													8	11					0	0	1	0	0	T	89713000	C	T	89713000	2	4	35	1	0	0	0	0	0	0	0	1	3352	710	25	3		3	CHMP1A	16	89713000	Silent	SNP	C	TCGA-DB-A4XF-01A-11D-A27K-08	31980149	89713000	641753	21	1398											
ARRB2	409	broad.mit.edu	37	chr17	4619841	4619841	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacccaccccggccccccAcccgcctgcaggaccggctg	6	2	9	24	3	0	0	0	0	0	0	0	1	0	1	10	3	2	2	10	3	1	0			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr17:4619841A>C	uc010vsg.2	+	4	523	c.295A>C	c.(295-297)Acc>Ccc	p.T99P	ARRB2_uc002fyj.3_Missense_Mutation_p.T99P|ARRB2_uc002fyk.3_Missense_Mutation_p.T84P|ARRB2_uc002fyl.3_Missense_Mutation_p.T99P|ARRB2_uc002fym.3_Missense_Mutation_p.T84P|ARRB2_uc002fyn.3_5'UTR	NM_004313	NP_004304	P32121	ARRB2_HUMAN	Homo sapiens arrestin, beta 2 (ARRB2), transcript variant 1, mRNA.	99					G-protein coupled receptor internalization|cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|negative regulation of NF-kappaB transcription factor activity|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CCGGCCCCCCACCCGCCTGCA	0.682													7	13					0	0	1	0	0	C	4619841	A	C	4619841	3	2	35	1	0	0	0	0	1	0	0	0	981	159	6	5	313	5	ARRB2	17	4619841	Missense_Mutation	SNP	A	TCGA-DB-A4XF-01A-11D-A27K-08		4619841	76575369	22	1399											
TP53	7157	broad.mit.edu	37	chr17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttccactcggataagaTgctgaggaggggccagacct	9	9	12	11	1	0	3	0	1	0	2	3	5	2	5	4	4	1	1	4	4	1	3			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr17:7578271T>C	uc002gim.2	-	5	772	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_uc002gig.1_Missense_Mutation_p.H193R|TP53_uc002gih.3_Missense_Mutation_p.H193R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H61R|TP53_uc010cnf.1_Missense_Mutation_p.H61R|TP53_uc002gii.1_Missense_Mutation_p.H61R|TP53_uc010cni.1_Missense_Mutation_p.H193R|TP53_uc010cnh.1_Missense_Mutation_p.H193R|TP53_uc002gij.2_Missense_Mutation_p.H193R|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H100R|TP53_uc002gio.2_Missense_Mutation_p.H61R|TP53_uc010vug.2_Missense_Mutation_p.H154R	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H193R(152)|p.H193L(77)|p.Q192*(71)|p.H193P(32)|p.H193Y(27)|p.H193D(9)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.H193fs*16(6)|p.?(6)|p.Q192R(5)|p.P191_E198>Q(4)|p.H193N(4)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.Q192H(3)|p.H193_I195delHLI(2)|p.P191fs*53(2)|p.H193H(2)|p.Q192Q(2)|p.Q192K(2)|p.H61P(2)|p.H100P(2)|p.H193_I195>AP(2)|p.A189fs*53(1)|p.K164_P219del(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192>XXXXXXXXX(1)|p.P98_E105>Q(1)|p.Q192del(1)|p.Q192fs*56(1)|p.Q192fs*16(1)|p.Q192fs*30(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)		TCGGATAAGATGCTGAGGAGG	0.562		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)			55	12					0	0	1	0	0	C	7578271	T	C	7578271	3	2	35	1	0	0	0	0	1	0	0	0	16378	1464	51	3	716	3	TP53	17	7578271	Missense_Mutation	SNP	T	TCGA-DB-A4XF-01A-11D-A27K-08	2958430	7578271	73616939	23	1400											
KRTAP17-1	83902	broad.mit.edu	37	chr17	39471743	39471743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatccacagcaagacgatcCgcagcagctgcccccgcagc	11	3	10	17	3	0	2	0	0	0	2	2	3	2	2	4	0	5	5	4	0	1	0			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr17:39471743C>T	uc002hwj.3	-	0	205	c.160G>A	c.(160-162)Gga>Aga	p.G54R		NM_031964	NP_114170	Q9BYP8	KR171_HUMAN	Homo sapiens keratin associated protein 17-1 (KRTAP17-1), mRNA.	54						intermediate filament				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			caagacgatccgcagcagctg	0.697													11	9					0	0	1	0	0	T	39471743	C	T	39471743	3	4	35	1	0	0	0	0	1	0	0	0	8527	661	23	2	161	2	KRTAP17-1	17	39471743	Missense_Mutation	SNP	C	TCGA-DB-A4XF-01A-11D-A27K-08	31893472	39471743	41723467	24	1401											
VSIG4	11326	broad.mit.edu	37	chrX	65253352	65253352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtaatcttatctctcaCgacttggttgccatcaggag	9	13	8	11	1	5	0	3	0	2	0	6	2	5	1	1	2	1	2	1	2	2	4	rs141882052	byFrequency	TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chrX:65253352C>T	uc004dwh.2	-	1	503	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	VSIG4_uc004dwi.2_Missense_Mutation_p.V126M|VSIG4_uc004dwj.3_Missense_Mutation_p.V126M|VSIG4_uc011moy.2_Missense_Mutation_p.V126M	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 4 (VSIG4), transcript variant 1, mRNA.	126	Ig-like 1.				complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTATCTCTCACGACTTGGTTG	0.483													83	131					0	0	1	0	0	T	65253352	C	T	65253352	3	4	35	1	0	0	0	0	1	0	0	0	17222	536	19	1	855	1	VSIG4	23	65253352	Missense_Mutation	SNP	C	TCGA-DB-A4XF-01A-11D-A27K-08		65253352	90017208	25	1402											
F8	2157	broad.mit.edu	37	chrX	154194745	154194745	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcatagtcccagtcctcCtcttcagcagcaatgtaatg	10	10	9	12	0	2	0	1	0	1	0	5	1	5	1	3	1	3	4	3	1	3	3			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chrX:154194745C>T	uc004fmt.3	-	7	1398	c.1227G>A	c.(1225-1227)gaG>gaA	p.E409E		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	409	F5/8 type A 2.|Plastocyanin-like 3.		E -> G (in HEMA; severe/moderate; dbSNP:rs28933671).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CCCAGTCCTCCTCTTCAGCAG	0.453													22	45					0	0	1	0	0	T	154194745	C	T	154194745	2	4	35	1	0	0	0	0	0	0	0	1	5350	680	24	3		3	F8	23	154194745	Silent	SNP	C	TCGA-DB-A4XF-01A-11D-A27K-08	88941393	154194745	1075815	26	1403											
EML4	27436	broad.mit.edu	37	chr2	42553330	42553330	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaaactaatcaggaatcGatcggattgtaaggacattg	14	10	10	7	2	1	0	1	0	0	0	3	4	1	3	0	3	2	2	0	3	4	4			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr2:42553330G>T	uc002rsi.3	+	20	2541	c.2279G>T	c.(2278-2280)cGa>cTa	p.R760L	EML4_uc010fap.3_Missense_Mutation_p.R702L|EML4_uc002rsj.3_Missense_Mutation_p.R449L|EML4_uc010faq.3_Missense_Mutation_p.R105L|EML4_uc010ynv.2_Missense_Mutation_p.R24L	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN	Homo sapiens echinoderm microtubule associated protein like 4 (EML4), transcript variant 1, mRNA.	760					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						ATCAGGAATCGATCGGATTGT	0.368			T	ALK	NSCLC								26	118					1.13719e-10	1.29965e-10	1	1	0	T	42553330	G	T	42553330	3	4	36	1	0	0	0	0	1	0	0	0	5099	1058	37	5	2361	5	EML4	2	42553330	Missense_Mutation	SNP	G	TCGA-DB-A4XG-01A-11D-A27K-08		42553330	200646043	1	1404											
LRP2	4036	broad.mit.edu	37	chr2	170112638	170112638	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaagatggcaagtccaaaCggatgtgtcatctgctctat	12	10	9	10	1	3	1	1	0	2	1	4	2	4	2	2	2	2	2	2	2	4	1			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr2:170112638C>T	uc002ues.3	-	18	2961	c.2748G>A	c.(2746-2748)ccG>ccA	p.P916P	LRP2_uc010zdf.1_Silent_p.P779P	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	916					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity	p.P916Q(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAAGTCCAAACGGATGTGTCA	0.373													6	51					0	0	1	0	0	T	170112638	C	T	170112638	2	4	36	1	0	0	0	0	0	0	0	1	8956	523	19	1		1	LRP2	2	170112638	Silent	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08	127559308	170112638	73086735	2	1405											
FGD5	152273	broad.mit.edu	37	chr3	14922122	14922122	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtcatcgcacaggaactgcTatcttcagagaaagcgtgag	12	9	11	9	2	3	2	2	1	1	1	4	4	3	3	0	1	3	2	0	1	3	2			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr3:14922122T>C	uc003bzc.3	+	2	2812	c.2702T>C	c.(2701-2703)cTa>cCa	p.L901P	FGD5_uc011avk.2_Missense_Mutation_p.L901P|FGD5_uc003bzd.3_5'Flank	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	901	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CAGGAACTGCTATCTTCAGAG	0.532													34	36					0	0	1	0	0	C	14922122	T	C	14922122	3	2	36	1	0	0	0	0	1	0	0	0	5836	1522	53	4	2712	4	FGD5	3	14922122	Missense_Mutation	SNP	T	TCGA-DB-A4XG-01A-11D-A27K-08		14922122	183100308	3	1406											
PAICS	10606	broad.mit.edu	37	chr4	57316856	57316857	+	Frame_Shift_Del	DEL	AG	AG	-																															aaaaactttgagtgggttgcAgagagagtagaggtaaacct																										TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr4:57316856_57316857delAG	uc010ihd.1	+	5	843_844	c.762_763delAG	c.(760-765)gcagagfs	p.A254fs	PAICS_uc003hbs.1_Frame_Shift_Del_p.A253fs|PAICS_uc011cac.1_Frame_Shift_Del_p.A253fs|PAICS_uc003hbt.1_Frame_Shift_Del_p.A260fs|PAICS_uc003hbu.1_Frame_Shift_Del_p.A253fs	NM_006452	NP_006443	P22234	PUR6_HUMAN	Homo sapiens phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase (PAICS), transcript variant 2, mRNA.	253	SAICAR synthetase.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|identical protein binding|phosphoribosylaminoimidazole carboxylase activity|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity			endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	AGTGGGTTGCAGAGAGAGTAGA	0.327													3	5	---	---	---	---						-	57316857	AG	-	57316856	7	5	36	1	0	1	0	1	0	0	0	0	11395	175	7	0	806	0	PAICS	4	57316856	Frame_Shift_Del	DEL	AG	TCGA-DB-A4XG-01A-11D-A27K-08		57316856	133837420	4	1407											
UGT2B10	7365	broad.mit.edu	37	chr4	69870824	69870824	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggttgatcatgatgaattCttgatgatttcataatattc	11	18	7	5	0	3	5	2	5	1	0	4	5	3	5	0	1	0	1	0	1	3	7			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr4:69870824C>A	uc011cao.1	-	7	1331	c.1205G>T	c.(1204-1206)aGa>aTa	p.R402I	UGT2B10_uc011can.1_Missense_Mutation_p.R318I			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	446					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						ATGATGAATTCTTGATGATTT	0.373													41	73					6.5261e-18	7.83132e-18	1	1	0	A	69870824	C	A	69870824	3	1	36	1	0	0	0	0	1	0	0	0	16953	913	32	5	1864	5	UGT2B10	4	69870824	Missense_Mutation	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08	12553968	69870824	121283452	5	1408											
NIPBL	25836	broad.mit.edu	37	chr5	37022199	37022199	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aattgctgttcgaacaaaagCcatgaagtgtttgtctgagg	12	12	11	6	1	1	2	0	2	1	0	2	3	1	2	1	1	3	3	1	1	5	3			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr5:37022199C>A	uc003jkl.4	+	27	5874	c.5375C>A	c.(5374-5376)gCc>gAc	p.A1792D	NIPBL_uc003jkk.4_Missense_Mutation_p.A1792D	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	1792					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CGAACAAAAGCCATGAAGTGT	0.343													13	35					6.31663e-08	6.59126e-08	1	1	0	A	37022199	C	A	37022199	3	1	36	1	0	0	0	0	1	0	0	0	10428	739	26	5	5481	5	NIPBL	5	37022199	Missense_Mutation	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08		37022199	143893061	6	1409											
SIM1	6492	broad.mit.edu	37	chr6	100868815	100868815	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatccagggagagctgcaGccctttgtattctgtgtctc	6	13	11	11	0	2	2	0	1	2	1	4	3	3	2	2	1	3	3	2	1	1	3			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr6:100868815G>A	uc003pqj.4	-	8	1485	c.1018C>T	c.(1018-1020)Ctg>Ttg	p.L340L	SIM1_uc021zdg.1_Silent_p.L340L|SIM1_uc010kcu.3_Silent_p.L340L	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	340	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GAGAGCTGCAGCCCTTTGTAT	0.507													11	22					0	0	1	0	0	A	100868815	G	A	100868815	2	1	36	1	0	0	0	0	0	0	0	1	14323	962	34	3		3	SIM1	6	100868815	Silent	SNP	G	TCGA-DB-A4XG-01A-11D-A27K-08		100868815	70246252	7	1410											
ANKIB1	54467	broad.mit.edu	37	chr7	91981897	91981897	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatctggatctgatacactCagcttcccattgctgagagc	10	11	8	12	0	3	2	1	2	2	1	4	4	4	3	1	1	4	2	1	1	1	3			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr7:91981897C>T	uc003ulw.2	+	8	1714	c.1338C>T	c.(1336-1338)ctC>ctT	p.L446L		NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	Homo sapiens ankyrin repeat and IBR domain containing 1 (ANKIB1), mRNA.	446							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTGATACACTCAGCTTCCCAT	0.433													147	166					0	0	1	0	0	T	91981897	C	T	91981897	2	4	36	1	0	0	0	0	0	0	0	1	630	813	29	3		3	ANKIB1	7	91981897	Silent	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08		91981897	67156766	8	1411											
ZCWPW1	55063	broad.mit.edu	37	chr7	100014771	100014773	+	In_Frame_Del	DEL	AAG	AAG	-																															agatactacgggctgggcacAagaagtctctgcaaaatcaa																										TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr7:100014771_100014773delAAG	uc003uut.3	-	5	643_645	c.395_397delCTT	c.(394-399)tcttgt>tgt	p.S132del	ZCWPW1_uc011kjq.2_In_Frame_Del_p.S11del|ZCWPW1_uc003uur.3_In_Frame_Del_p.S11del|ZCWPW1_uc003uus.3_In_Frame_Del_p.S11del|ZCWPW1_uc011kjr.2_In_Frame_Del_p.S131del|ZCWPW1_uc003uuu.1_In_Frame_Del_p.S131del	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	132							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCTGGGCACAAGAAGTCTCTGC	0.419													22	80	---	---	---	---						-	100014773	AAG	-	100014771	7	5	36	1	0	1	0	1	0	0	0	0	17594	130	5	0	1601	0	ZCWPW1	7	100014771	In_Frame_Del	DEL	AAG	TCGA-DB-A4XG-01A-11D-A27K-08	8032874	100014771	59123892	9	1412											
EPHB6	2051	broad.mit.edu	37	chr7	142562309	142562309	+	Frame_Shift_Del	DEL	G	G	-																															agacgcaggccagtggggctGggggggcctccctggtggca																										TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr7:142562309delG	uc011kst.2	+	6	1538	c.751delG	c.(751-753)gggfs	p.G251fs	EPHB6_uc011ksu.2_Frame_Shift_Del_p.G251fs|EPHB6_uc003wbs.3_5'UTR|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_5'UTR|EPHB6_uc003wbv.3_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	251	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CAGTGGGGCTGGGGGGGCCTC	0.682													7	251	---	---	---	---						-	142562309	G	-	142562309	7	5	36	1	0	1	0	1	0	0	0	0	5178	1348	47	0	761	0	EPHB6	7	142562309	Frame_Shift_Del	DEL	G	TCGA-DB-A4XG-01A-11D-A27K-08	42547538	142562309	16576354	10	1413											
MATN2	4147	broad.mit.edu	37	chr8	99045826	99045826	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacacgatcaatgcaaatgTgaaaaccttataatgttcca	18	10	5	8	1	1	1	1	1	0	0	2	2	2	1	2	0	3	2	2	0	7	3			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr8:99045826T>G	uc003yic.3	+	17	2985	c.2754T>G	c.(2752-2754)tgT>tgG	p.C918W	MATN2_uc010mbh.1_Missense_Mutation_p.C877W|MATN2_uc003yid.3_Missense_Mutation_p.C899W|MATN2_uc003yie.1_Missense_Mutation_p.C918W|MATN2_uc010mbi.1_Missense_Mutation_p.C732W|RPL30_uc010mbk.2_Intron	NM_002380	NP_002371	O00339	MATN2_HUMAN	Homo sapiens matrilin 2 (MATN2), transcript variant 1, mRNA.	918						proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			AATGCAAATGTGAAAACCTTA	0.388													8	9					0	0	1	0	0	G	99045826	T	G	99045826	3	3	36	1	0	0	0	0	1	0	0	0	9334	1702	59	5	2820	5	MATN2	8	99045826	Missense_Mutation	SNP	T	TCGA-DB-A4XG-01A-11D-A27K-08		99045826	47318196	11	1414											
WISP1	8840	broad.mit.edu	37	chr8	134225313	134225313	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactgcacggaggctgccatCtgtgacccccaccggggcct	7	6	12	16	2	1	1	0	1	1	0	1	2	1	2	5	4	3	2	5	4	1	0			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr8:134225313C>T	uc003yub.3	+	1	382	c.276C>T	c.(274-276)atC>atT	p.I92I	WISP1_uc003yuc.3_Silent_p.I92I|WISP1_uc010meb.3_Intron|WISP1_uc010mec.3_Silent_p.I92I|WISP1_uc010med.3_Intron|WISP1_uc003yud.3_Non-coding_Transcript	NM_003882	NP_003873	O95388	WISP1_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA.	92	IGFBP N-terminal.				Wnt receptor signaling pathway|cell adhesion|cell-cell signaling|regulation of cell growth	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			AGGCTGCCATCTGTGACCCCC	0.617													49	75					0	0	1	0	0	T	134225313	C	T	134225313	2	4	36	1	0	0	0	0	0	0	0	1	17369	903	32	3		3	WISP1	8	134225313	Silent	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08	35179487	134225313	12138709	12	1415											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123342218	123342218	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagccgctgagcgtcccAgggacggtgacgtcctcttc	5	8	13	15	4	1	2	0	2	1	0	4	3	3	3	3	2	3	2	3	2	0	1			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr9:123342218A>G	uc004bkf.3	-	0	220	c.39T>C	c.(37-39)ccT>ccC	p.P13P	CDK5RAP2_uc004bkg.3_Silent_p.P13P|CDK5RAP2_uc011lxw.2_5'UTR|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_5'UTR|CDK5RAP2_uc011lya.2_5'UTR|CDK5RAP2_uc004bkh.1_Silent_p.P13P	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	13					G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	p.P13S(1)		breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TGAGCGTCCCAGGGACGGTGA	0.662													16	46					0	0	1	0	0	G	123342218	A	G	123342218	2	3	36	1	0	0	0	0	0	0	0	1	3146	175	7	4		4	CDK5RAP2	9	123342218	Silent	SNP	A	TCGA-DB-A4XG-01A-11D-A27K-08		123342218	17871213	13	1416											
NOTCH1	4851	broad.mit.edu	37	chr9	139412278	139412278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcacgggttcgagacgCactcgttgacgtcgatctcg	6	10	13	12	7	2	2	0	1	2	1	6	4	2	2	0	2	0	4	0	2	0	2			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr9:139412278C>T	uc004chz.3	-	7	1367	c.1367G>A	c.(1366-1368)tGc>tAc	p.C456Y		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	456	EGF-like 12; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.C456R(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTTCGAGACGCACTCGTTGAC	0.662			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			67	37					0	0	1	0	0	T	139412278	C	T	139412278	3	4	36	1	0	0	0	0	1	0	0	0	10547	710	25	3	6408	3	NOTCH1	9	139412278	Missense_Mutation	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08	16070060	139412278	1801153	14	1417											
ZNF503	84858	broad.mit.edu	37	chr10	77161101	77161106	+	In_Frame_Del	DEL	CCGCCT	CCGCCT	-																															tccaggcagggtctgcaccgCcgcctccgcctccgccgccg																								rs72126859		TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr10:77161101_77161106delCCGCCT	uc001jxg.3	-	0	408_413	c.72_77delAGGCGG	c.(70-78)ggaggcggc>ggc	p.24_26GGG>G	ZNF503-AS2_uc010qlf.2_5'Flank|ZNF503-AS2_uc010qlg.2_5'Flank	NM_032772	NP_116161	Q96F45	ZN503_HUMAN	Homo sapiens zinc finger protein 503 (ZNF503), mRNA.	24	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GTCTGCAccgccgcctccgcctccgc	0.718													2	4	---	---	---	---						-	77161106	CCGCCT	-	77161101	7	5	36	1	0	1	0	1	0	0	0	0	17948	739	26	0	1871	0	ZNF503	10	77161101	In_Frame_Del	DEL	CCGCCT	TCGA-DB-A4XG-01A-11D-A27K-08		77161101	58373646	15	1418											
MUC5B	727897	broad.mit.edu	37	chr11	1270406	1270406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctccaggaccacggccaCggccacacccagcaagaccc	11	1	8	21	2	0	1	0	0	0	1	1	2	1	2	7	3	1	1	7	3	1	0			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr11:1270406C>T	uc001lta.3	+	30	12355	c.12296C>T	c.(12295-12297)aCg>aTg	p.T4099M		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4099	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCACGGCCACGGCCACACCC	0.701													100	102					0	0	1	0	0	T	1270406	C	T	1270406	3	4	36	1	0	0	0	0	1	0	0	0	9979	536	19	1	12427	1	MUC5B	11	1270406	Missense_Mutation	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08		1270406	133736110	16	1419											
C12orf69	440087	broad.mit.edu	37	chr12	14959571	14959571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagacgatttacttcttccCgcctttttgggttctctggg	5	16	10	10	2	2	1	0	0	2	1	4	3	3	1	2	2	1	1	2	2	2	7			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr12:14959571C>T	uc001rck.1	-	1	117	c.44G>A	c.(43-45)cGg>cAg	p.R15Q	C12orf60_uc001rcj.4_Intron|C12orf69_uc021qvp.1_Missense_Mutation_p.R15Q	NM_001013698	NP_001013720	A2RU48	CL069_HUMAN	Homo sapiens chromosome 12 open reading frame 69 (C12orf69), mRNA.	15						integral to membrane		p.R15L(2)		large_intestine(1)|lung(1)|skin(1)	3						TACTTCTTCCCGCCTTTTTGG	0.393													61	75					0	0	1	0	0	T	14959571	C	T	14959571	3	4	36	1	0	0	0	0	1	0	0	0	1711	652	23	2	637	2	C12orf69	12	14959571	Missense_Mutation	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08		14959571	118892324	17	1420											
VPS13C	54832	broad.mit.edu	37	chr15	62214622	62214622	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtcacgtcagcaacagcagCcattagagaagtccaatttt	13	10	8	10	1	2	1	2	0	0	1	3	2	3	1	2	0	4	2	2	0	4	3	rs115472982	by1000genomes	TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr15:62214622C>A	uc002agz.3	-	53	7040	c.6949G>T	c.(6949-6951)Gct>Tct	p.A2317S	VPS13C_uc002aha.3_Missense_Mutation_p.A2274S|VPS13C_uc002ahb.2_Missense_Mutation_p.A2317S|VPS13C_uc002ahc.2_Missense_Mutation_p.A2274S	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	2317					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GCAACAGCAGCCATTAGAGAA	0.378													17	89					3.41278e-10	3.72304e-10	1	1	0	A	62214622	C	A	62214622	3	1	36	1	0	0	0	0	1	0	0	0	17188	739	26	5	4468	5	VPS13C	15	62214622	Missense_Mutation	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08		62214622	40316770	18	1421											
HERC1	8925	broad.mit.edu	37	chr15	63966612	63966612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttatagatcatggcttgcGctcgttccagatcagctaat	10	14	8	9	2	2	2	2	0	0	2	4	2	3	2	1	1	2	4	1	1	3	6			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr15:63966612G>A	uc002amp.3	-	37	7923	c.7775C>T	c.(7774-7776)gCg>gTg	p.A2592V		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.	2592					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase 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						CATGGCTTGCGCTCGTTCCAG	0.448													17	50					0	0	1	0	0	A	63966612	G	A	63966612	3	1	36	1	0	0	0	0	1	0	0	0	7057	1087	38	1	6974	1	HERC1	15	63966612	Missense_Mutation	SNP	G	TCGA-DB-A4XG-01A-11D-A27K-08	1751990	63966612	38564780	19	1422											
IDH2	3418	broad.mit.edu	37	chr15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcgccatgggcgtgcCtgccaatggtgatgggcttg	4	10	16	11	2	0	1	0	1	0	0	1	1	0	1	4	4	2	1	4	4	1	1	rs121913503		TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr15:90631838C>T	uc002box.3	-	3	601	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_uc010uqb.2_Missense_Mutation_p.R120K|IDH2_uc010uqc.2_Missense_Mutation_p.R42K	NM_002168	NP_002159	P48735	IDHP_HUMAN	Homo sapiens isocitrate dehydrogenase 2 (NADP+), mitochondrial (IDH2), nuclear gene encoding mitochondrial protein, mRNA.	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding	p.R172K(358)|p.R172M(44)|p.R172S(18)|p.R172W(16)|p.R172?(13)|p.R172G(5)|p.G171D(4)|p.R172N(2)|p.R172L(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								51	56					0	0	1	0	0	T	90631838	C	T	90631838	3	4	36	1	0	0	0	0	1	0	0	0	7495	681	24	3	875	3	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08	26665226	90631838	11899554	20	1423											
CDH16	1014	broad.mit.edu	37	chr16	66950296	66950296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgagtcccctgacagcaCgatctggccttcagccccct	6	8	9	18	1	2	2	1	2	1	0	3	3	3	2	6	1	2	1	6	1	0	1			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr16:66950296C>T	uc002eql.3	-	3	360	c.166G>A	c.(166-168)Gtg>Atg	p.V56M	CDH16_uc010cdy.3_Missense_Mutation_p.V56M|CDH16_uc021tjx.1_Missense_Mutation_p.V56M|CDH16_uc002eqm.3_Missense_Mutation_p.V56M	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	56	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCTGACAGCACGATCTGGCCT	0.622													15	23					0	0	1	0	0	T	66950296	C	T	66950296	3	4	36	1	0	0	0	0	1	0	0	0	3101	536	19	1	2383	1	CDH16	16	66950296	Missense_Mutation	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08		66950296	23404457	21	1424											
NF1	4763	broad.mit.edu	37	chr17	29665752	29665755	+	Frame_Shift_Del	DEL	ACTT	ACTT	-																															gttgcttaaaaggacctgacActtacaacagtcaagttctg																										TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr17:29665752_29665755delACTT	uc002hgg.3	+	45	7233_7236	c.6850_6853delACTT	c.(6850-6855)acttacfs	p.T2284fs	NF1_uc002hgh.3_Frame_Shift_Del_p.T2263fs|NF1_uc010cso.3_Frame_Shift_Del_p.T472fs|NF1_uc010wbt.1_Intron|NF1_uc010wbu.1_Non-coding_Transcript	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2284					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.Y2285fs*5(12)|p.0?(8)|p.Y2285*(3)|p.?(3)|p.Y2285fs*16(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGGACCTGACACTTACAACAGTCA	0.319			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			67	19	---	---	---	---						-	29665755	ACTT	-	29665752	7	5	36	1	0	1	0	1	0	0	0	0	10356	159	6	0	7093	0	NF1	17	29665752	Frame_Shift_Del	DEL	ACTT	TCGA-DB-A4XG-01A-11D-A27K-08		29665752	51529458	22	1425											
SYNRG	11276	broad.mit.edu	37	chr17	35902548	35902549	+	Frame_Shift_Del	DEL	GA	GA	-																															tcctgctgagaggacaaatgGagagagttttctgccctgag																										TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr17:35902548_35902549delGA	uc002hoa.3	-	14	2810_2811	c.2727_2728delTC	c.(2725-2730)tctccafs	p.S909fs	SYNRG_uc010wde.2_Frame_Shift_Del_p.S831fs|SYNRG_uc010wdf.2_Frame_Shift_Del_p.S831fs|SYNRG_uc002hoc.3_Frame_Shift_Del_p.S830fs|SYNRG_uc002hoe.3_Frame_Shift_Del_p.S831fs|SYNRG_uc002hod.3_Intron|SYNRG_uc010wdg.2_Intron|SYNRG_uc002hob.3_Frame_Shift_Del_p.S909fs|SYNRG_uc002hof.3_Intron	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	Homo sapiens synergin, gamma (SYNRG), transcript variant 1, mRNA.	909					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGACAAATGGAGAGAGTTTTC	0.455													21	98	---	---	---	---						-	35902549	GA	-	35902548	7	5	36	1	0	1	0	1	0	0	0	0	15457	1174	41	0	1321	0	SYNRG	17	35902548	Frame_Shift_Del	DEL	GA	TCGA-DB-A4XG-01A-11D-A27K-08	6236796	35902548	45292662	23	1426											
C3	718	broad.mit.edu	37	chr19	6707823	6707823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctcacctgccctctgggCggtctgctggccactgctgc	3	9	12	17	1	3	0	1	0	2	0	3	1	3	0	4	3	4	2	4	3	0	0			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr19:6707823C>T	uc002mfm.3	-	14	2025	c.1963G>A	c.(1963-1965)Gcc>Acc	p.A655T		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	655					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	p.T654I(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GCCCTCTGGGCGGTCTGCTGG	0.672													73	82					0	0	1	0	0	T	6707823	C	T	6707823	3	4	36	1	0	0	0	0	1	0	0	0	2204	768	27	1	3136	1	C3	19	6707823	Missense_Mutation	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08		6707823	52421160	24	1427											
CD209	30835	broad.mit.edu	37	chr19	7809893	7809893	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaggcggtgatggagtcGtgccagttccgctgggagtt	5	11	17	8	3	0	1	0	1	0	0	2	3	1	3	2	4	2	4	2	4	0	3	rs61742035		TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr19:7809893G>A	uc002mht.2	-	4	901	c.834C>T	c.(832-834)caC>caT	p.H278H	CD209_uc010xju.1_Silent_p.H117H|CD209_uc010dvp.2_Silent_p.H254H|CD209_uc002mhr.2_Silent_p.H254H|CD209_uc002mhs.2_Silent_p.H208H|CD209_uc002mhu.2_Silent_p.H186H|CD209_uc010dvq.2_Silent_p.H278H|CD209_uc002mhq.2_Silent_p.H278H|CD209_uc002mhv.2_Silent_p.H254H|CD209_uc002mhx.2_Silent_p.H234H|CD209_uc002mhw.2_Silent_p.H142H|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	278	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGATGGAGTCGTGCCAGTTCC	0.587													45	60					0	0	1	0	0	A	7809893	G	A	7809893	2	1	36	1	0	0	0	0	0	0	0	1	2984	1136	40	1		1	CD209	19	7809893	Silent	SNP	G	TCGA-DB-A4XG-01A-11D-A27K-08	1102070	7809893	51319090	25	1428											
MAP3K15	389840	broad.mit.edu	37	chrX	19380935	19380938	+	Frame_Shift_Del	DEL	CTCT	CTCT	-																															tgccgcagaagattctggtaCtctctctctttttcaactag																										TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chrX:19380935_19380938delCTCT	uc022btq.1	-	25	3597_3600	c.3597_3600delAGAG	c.(3595-3600)agagagfs	p.R1199fs	MAP3K15_uc004czj.2_Frame_Shift_Del_p.R634fs|MAP3K15_uc004czk.2_Frame_Shift_Del_p.R674fs|MAP3K15_uc004czi.2_Frame_Shift_Del_p.R133fs	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	1199							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GATTCTGGTACTCTCTCTCTTTTT	0.328													26	58	---	---	---	---						-	19380938	CTCT	-	19380935	7	5	36	1	0	1	0	1	0	0	0	0	9249	564	20	0	357	0	MAP3K15	23	19380935	Frame_Shift_Del	DEL	CTCT	TCGA-DB-A4XG-01A-11D-A27K-08		19380935	135889625	26	1429											
POF1B	79983	broad.mit.edu	37	chrX	84586012	84586012	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatatagatccgtattcttaCggctcagatcagcaagcaac	13	10	8	10	2	3	2	2	0	1	2	4	3	4	2	1	1	4	4	1	1	6	5			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chrX:84586012C>T	uc004eer.2	-	6	943	c.797G>A	c.(796-798)cGt>cAt	p.R266H	POF1B_uc004ees.3_Missense_Mutation_p.R266H	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	266							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CGTATTCTTACGGCTCAGATC	0.383													26	5					0	0	1	0	0	T	84586012	C	T	84586012	3	4	36	1	0	0	0	0	1	0	0	0	12182	536	19	1	1016	1	POF1B	23	84586012	Missense_Mutation	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08	65205077	84586012	70684548	27	1430											
COL4A5	1287	broad.mit.edu	37	chrX	107823773	107823773	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tactgcatagggacttcctgGtgaccgagggcctcctggac	7	9	13	12	1	0	1	0	1	0	0	2	4	2	3	4	4	2	1	4	4	2	3	rs104886070		TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chrX:107823773G>T	uc022ccg.1	+	13	993	c.791G>T	c.(790-792)gGt>gTt	p.G264V	COL4A5_uc004enz.1_Missense_Mutation_p.G264V|COL4A5_uc004eob.1_5'Flank	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	264	Triple-helical region.		G -> R (in APSX; adult type).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGACTTCCTGGTGACCGAGGG	0.428									Alport syndrome with Diffuse Leiomyomatosis				64	5					5.61366e-43	7.09094e-43	1	1	0	T	107823773	G	T	107823773	3	4	36	1	0	0	0	0	1	0	0	0	3694	1261	44	5	845	5	COL4A5	23	107823773	Missense_Mutation	SNP	G	TCGA-DB-A4XG-01A-11D-A27K-08	23237761	107823773	47446787	28	1431											
TAS1R2	80834	broad.mit.edu	37	chr1	19168269	19168269	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaaggcagtcgatgcactcGaagcagcagacgtggatgcc	11	5	15	10	3	0	1	0	0	0	1	2	5	0	3	1	3	4	4	1	3	2	0			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr1:19168269G>A	uc001bba.1	-	4	1546	c.1545C>T	c.(1543-1545)ttC>ttT	p.F515F		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	515					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CGATGCACTCGAAGCAGCAGA	0.597													24	40					0	0	1	0	0	A	19168269	G	A	19168269	2	1	37	1	0	0	0	0	0	0	0	1	15560	1049	37	2		2	TAS1R2	1	19168269	Silent	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08		19168269	230082352	1	1432											
MAP7D1	55700	broad.mit.edu	37	chr1	36645154	36645154	+	Frame_Shift_Del	DEL	C	C	-																															gccaacgccaacggttccagCccaggtaaagcccccattcc																										TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr1:36645154delC	uc001bzz.3	+	13	2442	c.2226delC	c.(2224-2226)agcfs	p.S742fs	MAP7D1_uc001caa.3_Frame_Shift_Del_p.S709fs|MAP7D1_uc001cab.3_Frame_Shift_Del_p.S704fs|MAP7D1_uc001cac.3_Frame_Shift_Del_p.S441fs|MAP7D1_uc001cad.3_Frame_Shift_Del_p.S278fs	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	Homo sapiens MAP7 domain containing 1 (MAP7D1), mRNA.	742						cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				ACGGTTCCAGCCCAGGTAAAG	0.617													2	4	---	---	---	---						-	36645154	C	-	36645154	7	5	37	1	0	1	0	1	0	0	0	0	9267	738	26	0	2280	0	MAP7D1	1	36645154	Frame_Shift_Del	DEL	C	TCGA-DB-A4XH-01A-11D-A27K-08	17476885	36645154	212605467	2	1433											
SDHC	6391	broad.mit.edu	37	chr1	161326623	161326623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatacctggaatgggatccGacacttggtaagttaattcg	11	12	10	8	2	1	0	1	0	0	0	3	3	2	2	2	3	1	2	2	3	4	5			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr1:161326623G>A	uc001gag.3	+	4	428	c.398G>A	c.(397-399)cGa>cAa	p.R133Q	SDHC_uc001gah.3_Missense_Mutation_p.R99Q|SDHC_uc001gai.3_Intron|SDHC_uc001gaj.3_Missense_Mutation_p.R80Q|SDHC_uc001gak.3_Intron	NM_003001	NP_002992	Q99643	C560_HUMAN	Homo sapiens succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa (SDHC), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	133					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	AATGGGATCCGACACTTGGTA	0.473			"Mis, N, F"			"paraganglioma, pheochromocytoma"			Familial Paragangliomas;Carney-Stratakis syndrome				4	92					0	0	1	0	0	A	161326623	G	A	161326623	3	1	37	1	0	0	0	0	1	0	0	0	13966	1058	37	2	416	2	SDHC	1	161326623	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	124681469	161326623	87923998	3	1434											
PARP1	142	broad.mit.edu	37	chr1	226553702	226553702	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtggttgcatgagtgtTcttaacatacttcctgatga	8	16	11	6	0	1	3	0	3	1	0	2	3	2	3	1	1	3	3	1	1	2	5			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr1:226553702T>C	uc001hqd.4	-	17	2629	c.2458A>G	c.(2458-2460)Aac>Gac	p.N820D		NM_001618	NP_001609	P09874	PARP1_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.	820	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|NAD+ ADP-ribosyltransferase activity|identical protein binding|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GCATGAGTGTTCTTAACATAC	0.468								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					5	36					0	0	1	0	0	C	226553702	T	C	226553702	3	2	37	1	0	0	0	0	1	0	0	0	11454	1783	62	3	610	3	PARP1	1	226553702	Missense_Mutation	SNP	T	TCGA-DB-A4XH-01A-11D-A27K-08	65227079	226553702	22696919	4	1435											
ZP4	57829	broad.mit.edu	37	chr1	238048465	238048465	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catggaagggaacatcctacCggtcccctgagggcctgttt	8	9	12	12	1	0	1	0	1	0	0	2	3	2	3	5	4	2	1	5	4	3	2			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr1:238048465C>T	uc001hym.3	-	9	1598	c.1311_splice	c.e9+1	p.P437_splice	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	437	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of T cell proliferation|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AACATCCTACCGGTCCCCTGA	0.522													22	42					0	0	1	0	0	T	238048465	C	T	238048465	5	4	37	1	0	0	0	0	0	0	1	0	18215	666	23	2	327	2	ZP4	1	238048465	Splice_Site	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	11494763	238048465	11202156	5	1436											
SRBD1	55133	broad.mit.edu	37	chr2	45774700	45774700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctttattttctccgcctctCggaagccttgtccacaatgc	6	15	6	14	2	3	0	0	0	3	0	6	1	4	1	4	1	2	0	4	1	3	5			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr2:45774700C>T	uc002rus.3	-	12	1803	c.1727G>A	c.(1726-1728)cGa>cAa	p.R576Q	SRBD1_uc010yoc.2_Missense_Mutation_p.R95Q	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	576					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		RNA binding|hydrolase activity, acting on ester bonds	p.R576fs*6(1)|p.R576*(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			CTCCGCCTCTCGGAAGCCTTG	0.333													21	27					0	0	1	0	0	T	45774700	C	T	45774700	3	4	37	1	0	0	0	0	1	0	0	0	15132	884	31	2	1296	2	SRBD1	2	45774700	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08		45774700	197424673	6	1437											
VAMP5	10791	broad.mit.edu	37	chr2	85818866	85818866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcaggaatagagttggagCggtgccagcagcaggcgaac	12	4	17	8	2	0	1	0	0	0	1	0	4	0	3	1	5	5	4	1	5	3	2			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr2:85818866C>T	uc002spu.1	+	1	105	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_006634	NP_006625	O95183	VAMP5_HUMAN	Homo sapiens vesicle-associated membrane protein 5 (myobrevin) (VAMP5), mRNA.	8	v-SNARE coiled-coil homology.				cell differentiation|vesicle-mediated transport	endomembrane system		p.R8W(2)		NS(1)|large_intestine(3)|lung(1)	5						AGAGTTGGAGCGGTGCCAGCA	0.602													10	85					0	0	1	0	0	T	85818866	C	T	85818866	3	4	37	1	0	0	0	0	1	0	0	0	17113	759	27	1	28	1	VAMP5	2	85818866	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	40044166	85818866	157380507	7	1438											
SLC9A2	6549	broad.mit.edu	37	chr2	103281660	103281660	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttgttgtgggaatcggtggGgtgctgattggcatcttctt	4	17	15	5	1	2	1	0	1	2	0	3	2	2	2	0	5	1	3	0	5	1	5			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr2:103281660G>A	uc002tca.3	+	2	997	c.855G>A	c.(853-855)ggG>ggA	p.G285G		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	285						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GAATCGGTGGGGTGCTGATTG	0.443													61	69					0	0	1	0	0	A	103281660	G	A	103281660	2	1	37	1	0	0	0	0	0	0	0	1	14712	1219	43	3		3	SLC9A2	2	103281660	Silent	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	17462794	103281660	139917713	8	1439											
CHRNA1	1134	broad.mit.edu	37	chr2	175613522	175613522	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgtggagaaaaacatgAtatttgggatagtgtcgata	14	13	11	3	1	1	2	1	1	0	1	2	5	1	3	0	2	1	0	0	2	5	5			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr2:175613522A>G	uc002ujd.2	-	8	1181	c.1103T>C	c.(1102-1104)aTc>aCc	p.I368T	BC046497_uc002uiw.3_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.I343T	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 1 (muscle) (CHRNA1), transcript variant 1, mRNA.	368					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						GAAAAACATGATATTTGGGAT	0.348											OREG0015079	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	30					0	0	1	0	0	G	175613522	A	G	175613522	3	3	37	1	0	0	0	0	1	0	0	0	3381	333	12	3	353	3	CHRNA1	2	175613522	Missense_Mutation	SNP	A	TCGA-DB-A4XH-01A-11D-A27K-08	72331862	175613522	67585851	9	1440											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								26	36					0	0	1	0	0	T	209113112	C	T	209113112	3	4	37	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	33499590	209113112	34086261	10	1441											
PIKFYVE	200576	broad.mit.edu	37	chr2	209200822	209200823	+	In_Frame_Ins	INS	-	-	GTCTTC																															aagatgcaagcaaggctcatINSgtcttcctctgtagataccc																										TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr2:209200822_209200823insGTCTTC	uc002vcz.3	+	26	4576_4577	c.4418_4419insGTCTTC	c.(4417-4419)atg>atGTCTTCg	p.1475_1476insSS		NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	1475					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GCAAGGCTCATGTCTTCCTCTG	0.441													21	86	---	---	---	---						GTCTTC	209200823	-	GTCTTC	209200822	7	5	37	1	0	1	1	0	0	0	0	0	11924	1464	51	0	4531	0	PIKFYVE	2	209200822	In_Frame_Ins	INS	-	TCGA-DB-A4XH-01A-11D-A27K-08	87710	209200822	33998551	11	1442											
C2orf54	79919	broad.mit.edu	37	chr2	241828002	241828002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagcaggcggtacacggCgccctgcagttctgcccagt	7	6	12	16	3	1	0	0	0	1	0	1	0	1	0	3	3	4	4	3	3	1	2			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr2:241828002C>T	uc002wae.4	-	3	1117	c.958G>A	c.(958-960)Gcc>Acc	p.A320T	C2orf54_uc002wac.3_Missense_Mutation_p.A152T|C2orf54_uc002wad.3_Missense_Mutation_p.A171T	NM_001085437	NP_001078906	Q08AI8	CB054_HUMAN	Homo sapiens chromosome 2 open reading frame 54 (C2orf54), transcript variant 1, mRNA.	320										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CGGTACACGGCGCCCTGCAGT	0.697													3	27					0	0	1	0	0	T	241828002	C	T	241828002	3	4	37	1	0	0	0	0	1	0	0	0	2175	768	27	1	393	1	C2orf54	2	241828002	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	32627180	241828002	1371371	12	1443											
TRANK1	9881	broad.mit.edu	37	chr3	36874112	36874112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggattcccggcggttgCgtgcgctttcattttcaaac	5	14	11	11	4	2	0	2	0	0	0	3	1	3	1	1	3	3	2	1	3	1	5			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr3:36874112C>T	uc003cgj.3	-	20	7078	c.6830G>A	c.(6829-6831)cGc>cAc	p.R2277H		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2277					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCGGCGGTTGCGTGCGCTTTC	0.478													19	36					0	0	1	0	0	T	36874112	C	T	36874112	3	4	37	1	0	0	0	0	1	0	0	0	16451	768	27	1	1959	1	TRANK1	3	36874112	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08		36874112	161148318	13	1444											
KLHL18	23276	broad.mit.edu	37	chr3	47384261	47384261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgctgctggggttacaGtctttgagggcaggatatat	8	12	15	6	0	1	1	0	1	1	0	1	2	1	2	0	4	3	5	0	4	3	4			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr3:47384261G>A	uc003crd.3	+	8	1405	c.1279G>A	c.(1279-1281)Gtc>Atc	p.V427I	KLHL18_uc011bav.2_Missense_Mutation_p.V315I	NM_025010	NP_079286	O94889	KLH18_HUMAN	Homo sapiens kelch-like 18 (Drosophila) (KLHL18), mRNA.	427										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		TGGGGTTACAGTCTTTGAGGG	0.522													24	50					0	0	1	0	0	A	47384261	G	A	47384261	3	1	37	1	0	0	0	0	1	0	0	0	8373	1029	36	3	1313	3	KLHL18	3	47384261	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	10510149	47384261	150638169	14	1445											
UQCRC1	7384	broad.mit.edu	37	chr3	48636583	48636583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaagcgcagccagaacatgCcgctacggatccggttgtag	11	6	13	11	4	0	2	0	0	0	2	1	3	1	3	3	2	5	4	3	2	4	3			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr3:48636583C>T	uc003cub.1	-	12	1466	c.1421G>A	c.(1420-1422)gGc>gAc	p.G474D		NM_003365	NP_003356	P31930	QCR1_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase core protein I (UQCRC1), mRNA.	474					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	CCAGAACATGCCGCTACGGAT	0.637													4	185					0	0	1	0	0	T	48636583	C	T	48636583	3	4	37	1	0	0	0	0	1	0	0	0	17016	739	26	3	25	3	UQCRC1	3	48636583	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	1252322	48636583	149385847	15	1446											
CELSR3	1951	broad.mit.edu	37	chr3	48690585	48690585	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgggaagcacggcccgagccCctggtcactgtcacagacag	9	5	13	14	2	2	1	2	0	0	1	2	3	2	2	3	3	2	1	3	3	1	0			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr3:48690585C>T	uc003cuf.1	-	11	5694	c.5694G>A	c.(5692-5694)agG>agA	p.R1898R	CELSR3_uc010hkg.3_5'Flank|CELSR3_uc003cul.3_Silent_p.R1828R	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	1828	Laminin G-like 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGCCCGAGCCCCTGGTCACTG	0.617													6	118					0	0	1	0	0	T	48690585	C	T	48690585	2	4	37	1	0	0	0	0	0	0	0	1	3223	622	22	3		3	CELSR3	3	48690585	Silent	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	54002	48690585	149331845	16	1447											
OR5H2	79310	broad.mit.edu	37	chr3	98001915	98001915	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatgacccacaacttcacAtccccatgtacttttttctt	10	14	4	13	0	2	1	1	1	1	0	3	2	3	2	3	1	2	1	3	1	3	6			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr3:98001915A>G	uc003dsj.1	+	0	184	c.184A>G	c.(184-186)Atc>Gtc	p.I62V		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						ACAACTTCACATCCCCATGTA	0.413													108	196					0	0	1	0	0	G	98001915	A	G	98001915	3	3	37	1	0	0	0	0	1	0	0	0	11162	217	8	3	186	3	OR5H2	3	98001915	Missense_Mutation	SNP	A	TCGA-DB-A4XH-01A-11D-A27K-08	49311330	98001915	100020515	17	1448											
ZBTB20	26137	broad.mit.edu	37	chr3	114058129	114058129	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtggaggcgcatgtgcacgTtgagggagctcttctgggtg	5	10	19	7	2	2	1	0	1	2	0	2	3	2	3	0	5	2	4	0	5	0	2			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr3:114058129T>C	uc003ebi.3	-	4	2129	c.1949A>G	c.(1948-1950)aAc>aGc	p.N650S	ZBTB20_uc003ebj.3_Missense_Mutation_p.N577S|ZBTB20_uc010hqp.3_Missense_Mutation_p.N577S|ZBTB20_uc003ebk.3_Missense_Mutation_p.N577S|ZBTB20_uc003ebl.3_Missense_Mutation_p.N577S|ZBTB20_uc003ebm.3_Missense_Mutation_p.N577S|ZBTB20_uc003ebn.3_Missense_Mutation_p.N577S	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	650					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CATGTGCACGTTGAGGGAGCT	0.527													101	122					0	0	1	0	0	C	114058129	T	C	114058129	3	2	37	1	0	0	0	0	1	0	0	0	17526	1725	60	3	280	3	ZBTB20	3	114058129	Missense_Mutation	SNP	T	TCGA-DB-A4XH-01A-11D-A27K-08	16056214	114058129	83964301	18	1449											
BCL6	604	broad.mit.edu	37	chr3	187447676	187447676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctctgctctcacacccagGggcgctcctcagtggcaggt	5	8	13	15	1	3	0	2	0	2	0	5	0	4	0	2	5	1	4	2	5	0	0			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr3:187447676G>A	uc003frp.3	-	4	974	c.517C>T	c.(517-519)Cct>Tct	p.P173S	LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Missense_Mutation_p.P173S|BCL6_uc010hza.2_Missense_Mutation_p.P71S|BCL6_uc003frq.2_Missense_Mutation_p.P173S	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	173					negative regulation of B cell apoptosis|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TCACACCCAGGGGCGCTCCTC	0.602			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"								6	139					0	0	1	0	0	A	187447676	G	A	187447676	3	1	37	1	0	0	0	0	1	0	0	0	1376	1232	43	3	1627	3	BCL6	3	187447676	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	73389547	187447676	10574754	19	1450											
NAT8L	339983	broad.mit.edu	37	chr4	2065803	2065803	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctcgctggctgagcgcctCttcttccaggtccgctacca	4	11	9	17	3	3	1	0	1	3	0	6	1	5	1	4	2	2	3	4	2	1	3			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr4:2065803C>G	uc003geq.2	+	2	858	c.858C>G	c.(856-858)ctC>ctG	p.L286L		NM_178557	NP_848652	Q8N9F0	NAT8L_HUMAN	Homo sapiens N-acetyltransferase 8-like (GCN5-related, putative) (NAT8L), mRNA.	286						integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane	aspartate N-acetyltransferase activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			CTGAGCGCCTCTTCTTCCAGG	0.711													13	20					0	0	1	0	0	G	2065803	C	G	2065803	2	3	37	1	0	0	0	0	0	0	0	1	10181	900	32	5		5	NAT8L	4	2065803	Silent	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08		2065803	189088473	20	1451											
OTOP1	133060	broad.mit.edu	37	chr4	4199453	4199453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtctatcctgtaaatccGgattccagccagccccgcag	8	9	8	16	3	1	0	0	0	1	0	5	1	4	1	6	1	2	2	6	1	3	3			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr4:4199453G>A	uc003ghp.1	-	4	1138	c.1108C>T	c.(1108-1110)Cgg>Tgg	p.R370W		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	370					biomineral tissue development	extracellular space|integral to membrane		p.R370Q(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTGTAAATCCGGATTCCAGCC	0.582													6	83					0	0	1	0	0	A	4199453	G	A	4199453	3	1	37	1	0	0	0	0	1	0	0	0	11305	1115	39	2	738	2	OTOP1	4	4199453	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	2133650	4199453	186954823	21	1452											
SLC10A4	201780	broad.mit.edu	37	chr4	48485844	48485844	+	Frame_Shift_Del	DEL	G	G	-																															ttccccgttccctcggccctGggcgccccacgcgctcccgt																										TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr4:48485844delG	uc003gyc.2	+	0	485	c.266delG	c.(265-267)tggfs	p.W89fs		NM_152679	NP_689892	Q96EP9	NTCP4_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 4 (SLC10A4), mRNA.	89						integral to membrane	bile acid:sodium symporter activity	p.P88L(1)		central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						CCTCGGCCCTGGGCGCCCCAC	0.756													2	4	---	---	---	---						-	48485844	G	-	48485844	7	5	37	1	0	1	0	1	0	0	0	0	14376	1357	47	0	268	0	SLC10A4	4	48485844	Frame_Shift_Del	DEL	G	TCGA-DB-A4XH-01A-11D-A27K-08	44286391	48485844	142668432	22	1453											
SLC12A7	10723	broad.mit.edu	37	chr5	1081825	1081825	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacctttcttctccacaaaCgcccccgcgtgcgcgtacgt	7	9	7	18	6	2	0	0	0	2	0	3	0	2	0	4	0	3	1	4	0	2	3	rs138705098		TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr5:1081825C>T	uc003jbu.3	-	8	1230	c.1164G>A	c.(1162-1164)gcG>gcA	p.A388A		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	388					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TCTCCACAAACGCCCCCGCGT	0.662													8	68					0	0	1	0	0	T	1081825	C	T	1081825	2	4	37	1	0	0	0	0	0	0	0	1	14388	523	19	1		1	SLC12A7	5	1081825	Silent	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08		1081825	179833435	23	1454											
CDH6	1004	broad.mit.edu	37	chr5	31323107	31323107	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatagaggacaacaaattaCgaagggacattgtgcccgaa	16	6	10	9	2	0	1	0	0	0	1	0	5	0	3	2	2	3	0	2	2	6	3			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr5:31323107C>T	uc003jhe.2	+	11	2425	c.2065C>T	c.(2065-2067)Cga>Tga	p.R689*		NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	689					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	p.R689Q(1)		NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAACAAATTACGAAGGGACAT	0.502													6	56					0	0	1	0	0	T	31323107	C	T	31323107	4	4	37	1	0	0	0	0	0	1	0	0	3114	528	19	1	2107	1	CDH6	5	31323107	Nonsense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	30241282	31323107	149592153	24	1455											
CDC5L	988	broad.mit.edu	37	chr6	44387260	44387260	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttaataccccattgcatgaGagtgacttctcaggtgtaac	11	12	8	10	0	1	2	1	2	1	1	2	3	1	2	2	1	3	2	2	1	3	5			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr6:44387260G>C	uc003oxl.3	+	8	1477	c.1167G>C	c.(1165-1167)gaG>gaC	p.E389D		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA.	389	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CATTGCATGAGAGTGACTTCT	0.438													17	62					0	0	1	0	0	C	44387260	G	C	44387260	3	2	37	1	0	0	0	0	1	0	0	0	3082	933	33	5	1201	5	CDC5L	6	44387260	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08		44387260	126727807	25	1456											
TPST1	8460	broad.mit.edu	37	chr7	65705779	65705779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaagtaaagagaagatcCgcctggatgaggctggtgtt	11	9	15	6	1	1	3	1	1	0	2	2	5	2	4	2	4	0	3	2	4	4	2			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr7:65705779C>T	uc003tuw.3	+	1	719	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C	TPST1_uc010kzy.2_Intron	NM_003596	NP_003587	O60507	TPST1_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 1 (TPST1), mRNA.	123					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						AGAGAAGATCCGCCTGGATGA	0.512													29	42					0	0	1	0	0	T	65705779	C	T	65705779	3	4	37	1	0	0	0	0	1	0	0	0	16424	652	23	2	369	2	TPST1	7	65705779	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08		65705779	93432884	26	1457											
SNX31	169166	broad.mit.edu	37	chr8	101589305	101589308	+	Splice_Site	DEL	TAGA	TAGA	-																															gttccggaacttcaatctgcTagatagattagtgaaatgtc																										TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr8:101589305_101589308delTAGA	uc003yjr.3	-	13	1322	c.1171_splice	c.e13-1	p.Q391_splice	SNX31_uc011lha.2_Splice_Site_p.Q186_splice|SNX31_uc011lhb.2_Splice_Site_p.Q292_splice	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Homo sapiens sorting nexin 31 (SNX31), mRNA.	391					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TTCAATCTGCTAGATAGATTAGTG	0.363													43	94	---	---	---	---						-	101589308	TAGA	-	101589305	8	5	37	1	0	1	0	1	0	0	1	0	14901	1536	53	0	161	0	SNX31	8	101589305	Splice_Site	DEL	TAGA	TCGA-DB-A4XH-01A-11D-A27K-08		101589305	44774717	27	1458											
AQP3	360	broad.mit.edu	37	chr9	33442299	33442299	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgggggctgtactcacGtgaagactgcagagccccag	8	7	16	10	1	1	3	1	1	0	2	1	3	1	3	2	3	3	3	2	3	2	1			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr9:33442299G>A	uc003zsx.3	-	5	813	c.710_splice	c.e5+1	p.T237_splice	AQP3_uc010mju.3_Intron|AQP3_uc003zsv.2_3'UTR	NM_004925	NP_004916	Q92482	AQP3_HUMAN	Homo sapiens aquaporin 3 (Gill blood group) (AQP3), mRNA.	237					excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		CTGTACTCACGTGAAGACTGC	0.657													3	28					0	0	1	0	0	A	33442299	G	A	33442299	5	1	37	1	0	0	0	0	0	0	1	0	827	1159	40	1	176	1	AQP3	9	33442299	Splice_Site	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08		33442299	107771132	28	1459											
COL27A1	85301	broad.mit.edu	37	chr9	116931263	116931263	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccggcctctgcccgcacCagcacccacaaacctccccc	9	3	6	23	2	1	0	0	0	1	0	2	0	2	0	8	1	4	2	8	1	2	0			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr9:116931263C>T	uc011lxl.2	+	2	1428	c.1428C>T	c.(1426-1428)acC>acT	p.T476T	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc010mvd.2_Silent_p.T326T	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	476	Pro-rich.				cell adhesion		extracellular matrix structural constituent	p.R475H(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CTGCCCGCACCAGCACCCACA	0.567													134	191					0	0	1	0	0	T	116931263	C	T	116931263	2	4	37	1	0	0	0	0	0	0	0	1	3685	581	21	3		3	COL27A1	9	116931263	Silent	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	83488964	116931263	24282168	29	1460											
MYO3A	53904	broad.mit.edu	37	chr10	26500781	26500781	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcacttgcaggtgctgggcGgcggagagccccgagaagga	8	6	17	10	3	1	2	1	0	0	2	1	5	1	3	2	5	3	2	2	5	1	2			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr10:26500781G>A	uc001isn.2	+	34	5100	c.4740G>A	c.(4738-4740)gcG>gcA	p.A1580A	MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.G596S	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1580					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GGTGCTGGGCGGCGGAGAGCC	0.662													13	43					0	0	1	0	0	A	26500781	G	A	26500781	2	1	37	1	0	0	0	0	0	0	0	1	10076	1103	39	2		2	MYO3A	10	26500781	Silent	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08		26500781	109033966	30	1461											
ANKRD30A	91074	broad.mit.edu	37	chr10	37430910	37430910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaacacctagggaaattaCgagtcctgcaaaagaaacat	19	6	8	8	1	0	2	0	0	0	2	1	4	1	3	2	1	4	1	2	1	7	2			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr10:37430910C>T	uc021ppc.1	+	6	1016	c.917C>T	c.(916-918)aCg>aTg	p.T306M	ANKRD30A_uc001iza.1_Missense_Mutation_p.T306M	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	362						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGGGAAATTACGAGTCCTGCA	0.433													65	86					0	0	1	0	0	T	37430910	C	T	37430910	3	4	37	1	0	0	0	0	1	0	0	0	658	536	19	1	943	1	ANKRD30A	10	37430910	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	10930129	37430910	98103837	31	1462											
F2	2147	broad.mit.edu	37	chr11	46747678	46747678	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggcgtgtggtgctatgtgGccgggaagcctggcgacttt	5	10	18	8	3	0	0	0	0	0	0	0	2	0	1	2	5	2	1	2	5	2	2			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr11:46747678G>C	uc001ndf.4	+	6	872	c.829G>C	c.(829-831)Gcc>Ccc	p.A277P		NM_000506	NP_000497	P00734	THRB_HUMAN	Homo sapiens coagulation factor II (thrombin) (F2), mRNA.	277	Kringle 2.				STAT protein import into nucleus|activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|tyrosine phosphorylation of STAT protein	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular space|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GTGCTATGTGGCCGGGAAGCC	0.597													7	125					0	0	1	0	0	C	46747678	G	C	46747678	3	2	37	1	0	0	0	0	1	0	0	0	5342	1203	42	5	855	5	F2	11	46747678	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08		46747678	88258838	32	1463											
ITPR2	3709	broad.mit.edu	37	chr12	26639240	26639240	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttggatgttgctgaagaagCttctgttaattgccctttca	8	17	9	7	0	2	2	1	1	1	1	2	3	2	3	1	1	3	4	1	1	3	6			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr12:26639240C>G	uc001rhg.3	-	40	6025	c.5608G>C	c.(5608-5610)Gct>Cct	p.A1870P	ITPR2_uc009zjg.1_Missense_Mutation_p.A21P	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	1870					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GCTGAAGAAGCTTCTGTTAAT	0.363													12	45					0	0	1	0	0	G	26639240	C	G	26639240	3	3	37	1	0	0	0	0	1	0	0	0	7921	797	28	5	2565	5	ITPR2	12	26639240	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08		26639240	107212655	33	1464											
ABCD2	225	broad.mit.edu	37	chr12	39947886	39947886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtatccaattgttcaaagCgccaacctccttcaccatca	12	10	4	15	1	3	0	3	0	0	0	5	0	5	0	5	0	2	2	5	0	4	4			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr12:39947886C>T	uc001rmb.2	-	9	2477	c.2051G>A	c.(2050-2052)cGc>cAc	p.R684H		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	684	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	p.R684H(4)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TTGTTCAAAGCGCCAACCTCC	0.348													3	38					0	0	1	0	0	T	39947886	C	T	39947886	3	4	37	1	0	0	0	0	1	0	0	0	61	768	27	1	175	1	ABCD2	12	39947886	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	13308646	39947886	93904009	34	1465											
DCN	1634	broad.mit.edu	37	chr12	91546926	91546926	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatcaactctgctgattttGttgccatcaagatgtaattc	10	15	7	9	0	3	2	2	1	1	1	4	2	3	2	1	0	3	4	1	0	3	5			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr12:91546926G>A	uc001tbt.3	-	5	947	c.693C>T	c.(691-693)aaC>aaT	p.N231N	DCN_uc001tbo.3_Silent_p.N122N|DCN_uc001tbp.3_Silent_p.N84N|DCN_uc001tbq.3_Intron|DCN_uc001tbr.3_Intron|DCN_uc001tbu.3_Silent_p.N231N	NM_133503	NP_598010	P07585	PGS2_HUMAN	Homo sapiens decorin (DCN), transcript variant A2, mRNA.	231					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TGCTGATTTTGTTGCCATCAA	0.358													8	77					0	0	1	0	0	A	91546926	G	A	91546926	2	1	37	1	0	0	0	0	0	0	0	1	4297	1368	48	3		3	DCN	12	91546926	Silent	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	51599040	91546926	42304969	35	1466											
LATS2	26524	broad.mit.edu	37	chr13	21563346	21563346	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgccgaagcttgggccctcGtagggggtaccgctcagctg	5	7	16	13	4	1	0	1	0	0	0	2	1	1	0	3	3	3	5	3	3	3	3			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr13:21563346G>A	uc009zzs.3	-	3	938	c.573C>T	c.(571-573)taC>taT	p.Y191Y	LATS2_uc001unr.4_Silent_p.Y191Y	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA.	191					G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TTGGGCCCTCGTAGGGGGTAC	0.687													11	103					0	0	1	0	0	A	21563346	G	A	21563346	2	1	37	1	0	0	0	0	0	0	0	1	8647	1140	40	1		1	LATS2	13	21563346	Silent	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08		21563346	93606532	36	1467											
PAN3	255967	broad.mit.edu	37	chr13	28713125	28713125	+	Frame_Shift_Del	DEL	C	C	-																															cgggcgggggagctgggccgCcccccgggcccaagaagccg																										TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr13:28713125delC	uc001urz.3	+	0	483	c.331delC	c.(331-333)cccfs	p.P111fs	PAN3_uc010tdo.1_Frame_Shift_Del_p.P111fs|PAN3-AS1_uc021rhn.1_5'UTR	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.	111	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		AGCTGGGCCGCCCCCCGGGCC	0.771													2	4	---	---	---	---						-	28713125	C	-	28713125	7	5	37	1	0	1	0	1	0	0	0	0	11415	739	26	0	333	0	PAN3	13	28713125	Frame_Shift_Del	DEL	C	TCGA-DB-A4XH-01A-11D-A27K-08	7149779	28713125	86456753	37	1468											
RNF31	55072	broad.mit.edu	37	chr14	24619440	24619440	+	Missense_Mutation	SNP	G	G	T																															tgtggcctgtgatcggccccGaggctgtaaggggttggggt																										TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr14:24619440G>T	uc001wmn.1	+	6	1229	c.980G>T	c.(979-981)cGa>cTa	p.R327L	RNF31_uc001wml.1_Missense_Mutation_p.R176L|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.R142L|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.3_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	327	Polyubiquitin-binding.				CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GATCGGCCCCGAGGCTGTAAG	0.607													31	47					1.88708e-17	1.99975e-17	1	1	0	T	24619440	G	T	24619440	3	4	37	1	0	0	0	0	1	0	0	0	13487	1058	37	5	1006	5	RNF31	14	24619440	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08		24619440	82730100	38	1469	4	2									
RNF31	55072	broad.mit.edu	37	chr14	24619441	24619441	+	Silent	SNP	A	A	T																															gtggcctgtgatcggccccgAggctgtaaggggttggggtt																										TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr14:24619441A>T	uc001wmn.1	+	6	1230	c.981A>T	c.(979-981)cgA>cgT	p.R327R	RNF31_uc001wml.1_Silent_p.R176R|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Silent_p.R142R|RNF31_uc001wmo.1_5'Flank|RNF31_uc001wmp.3_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	327	Polyubiquitin-binding.				CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		ATCGGCCCCGAGGCTGTAAGG	0.607													31	48					0	0	1	0	0	T	24619441	A	T	24619441	2	4	37	1	0	0	0	0	0	0	0	1	13487	291	11	5		5	RNF31	14	24619441	Silent	SNP	A	TCGA-DB-A4XH-01A-11D-A27K-08	1	24619441	82730099	39	1470	4	2									
TBPL2	387332	broad.mit.edu	37	chr14	55907119	55907119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcggcagcctcacctgagCggcgcactggtccaggtaga	7	6	15	13	3	1	2	1	1	0	1	2	2	2	2	3	5	2	3	3	5	1	1			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr14:55907119C>T	uc001xby.3	-	0	145	c.145G>A	c.(145-147)Gct>Act	p.A49T		NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	Homo sapiens TATA box binding protein like 2 (TBPL2), mRNA.	49					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						CTCACCTGAGCGGCGCACTGG	0.622													6	116					0	0	1	0	0	T	55907119	C	T	55907119	3	4	37	1	0	0	0	0	1	0	0	0	15643	768	27	1	1010	1	TBPL2	14	55907119	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	31287678	55907119	51442421	40	1471											
SPTB	6710	broad.mit.edu	37	chr14	65260496	65260496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctccagttgggccttccGcccagctgccatgttgctca	4	11	10	16	1	1	0	1	0	0	0	3	0	3	0	5	1	4	5	5	1	0	3			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr14:65260496G>A	uc001xht.3	-	12	1936	c.1885C>T	c.(1885-1887)Cgg>Tgg	p.R629W	SPTB_uc001xhr.3_Missense_Mutation_p.R629W|SPTB_uc001xhs.3_Missense_Mutation_p.R629W|SPTB_uc001xhu.3_Missense_Mutation_p.R629W	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	629				RKA -> ART (in Ref. 1; AAA60578/ AAA60579).	actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGGGCCTTCCGCCCAGCTGCC	0.552													4	74					0	0	1	0	0	A	65260496	G	A	65260496	3	1	37	1	0	0	0	0	1	0	0	0	15117	1086	38	1	5262	1	SPTB	14	65260496	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	9353377	65260496	42089044	41	1472											
SETD3	84193	broad.mit.edu	37	chr14	99865139	99865139	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttagggatagagttttcaccGtttacaagcccgttttctgt	8	16	9	8	2	2	1	1	0	1	1	2	2	2	2	2	1	2	3	2	1	4	8			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr14:99865139G>A	uc001ygc.3	-	12	1832	c.1662C>T	c.(1660-1662)aaC>aaT	p.N554N		NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	Homo sapiens SET domain containing 3 (SETD3), transcript variant 1, mRNA.	554					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				AGTTTTCACCGTTTACAAGCC	0.468													4	145					0	0	1	0	0	A	99865139	G	A	99865139	2	1	37	1	0	0	0	0	0	0	0	1	14132	1136	40	1		1	SETD3	14	99865139	Silent	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	34604643	99865139	7484401	42	1473											
C15orf55	256646	broad.mit.edu	37	chr15	34640764	34640764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccttccctaggtgaccgctCcaaaatttccaaggacgttt	9	11	8	13	2	0	1	0	1	0	0	3	2	3	2	5	2	0	2	5	2	4	4			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr15:34640764C>T	uc010ucc.2	+	2	1077	c.695C>T	c.(694-696)tCc>tTc	p.S232F	C15orf55_uc010ucd.2_Missense_Mutation_p.S222F|C15orf55_uc001zif.3_Missense_Mutation_p.S204F	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	204						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		GGTGACCGCTCCAAAATTTCC	0.562			T	"BRD3, BRD4"	lethal midline carcinoma								5	66					0	0	1	0	0	T	34640764	C	T	34640764	3	4	37	1	0	0	0	0	1	0	0	0	1803	855	30	3	617	3	C15orf55	15	34640764	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08		34640764	67890628	43	1474											
SMAD6	4091	broad.mit.edu	37	chr15	67073541	67073541	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggcgaacgcgcagcaagAtcggcttcggcatcctgctc	7	7	13	14	6	0	1	0	0	0	1	4	2	1	1	1	3	4	5	1	3	2	1			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr15:67073541A>T	uc002aqf.3	+	3	2082	c.1159A>T	c.(1159-1161)Atc>Ttc	p.I387F	SMAD6_uc010bhx.3_Non-coding_Transcript|SMAD6_uc002aqg.3_Missense_Mutation_p.I126F	NM_005585	NP_005576	O43541	SMAD6_HUMAN	Homo sapiens SMAD family member 6 (SMAD6), transcript variant 1, mRNA.	387	MH2.				BMP signaling pathway|immune response|negative regulation of BMP signaling pathway|negative regulation of SMAD protein complex assembly|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	I-SMAD binding|R-SMAD binding|co-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						GCGCAGCAAGATCGGCTTCGG	0.672													4	36					0	0	1	0	0	T	67073541	A	T	67073541	3	4	37	1	0	0	0	0	1	0	0	0	14762	333	12	5	1211	5	SMAD6	15	67073541	Missense_Mutation	SNP	A	TCGA-DB-A4XH-01A-11D-A27K-08	32432777	67073541	35457851	44	1475											
ADCY9	115	broad.mit.edu	37	chr16	4016491	4016491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgttcagccctgacgccGccatgtacgtggctccgatg	5	9	13	14	5	1	1	1	1	0	0	2	2	2	1	4	2	2	3	4	2	1	2			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr16:4016491G>A	uc002cvx.3	-	10	3886	c.3347C>T	c.(3346-3348)gCg>gTg	p.A1116V		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	1116	Guanylate cyclase 2.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCCTGACGCCGCCATGTACGT	0.622													8	118					0	0	1	0	0	A	4016491	G	A	4016491	3	1	37	1	0	0	0	0	1	0	0	0	301	1087	38	1	718	1	ADCY9	16	4016491	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08		4016491	86338262	45	1476											
PHKB	5257	broad.mit.edu	37	chr16	47730353	47730353	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctccttgttgaagacaCgttgggaaatattgaccagc	10	12	9	10	1	1	3	0	2	1	1	3	4	2	4	2	1	1	2	2	1	3	5			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr16:47730353C>A	uc002eev.4	+	28	3009	c.2957C>A	c.(2956-2958)aCg>aAg	p.T986K	PHKB_uc002eeu.4_Missense_Mutation_p.T979K|PHKB_uc002eew.4_Missense_Mutation_p.T227K	NM_000293	NP_000284	Q93100	KPBB_HUMAN	Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.	986					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GTTGAAGACACGTTGGGAAAT	0.408													14	53					2.61681e-11	2.69266e-11	1	1	0	A	47730353	C	A	47730353	3	1	37	1	0	0	0	0	1	0	0	0	11845	536	19	5	3225	5	PHKB	16	47730353	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	43713862	47730353	42624400	46	1477											
CCDC135	84229	broad.mit.edu	37	chr16	57731885	57731887	+	In_Frame_Del	DEL	GGA	GGA	-																															gaggtcctgagggagaaggtGgaggaggaggaggaggccga																										TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr16:57731885_57731887delGGA	uc002emi.3	+	1	113_115	c.24_26delGGA	c.(22-27)gtggag>gtg	p.E13del	CCDC135_uc002emj.3_In_Frame_Del_p.E13del|CCDC135_uc002emk.3_In_Frame_Del_p.E13del	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	13						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						Gggagaaggtggaggaggaggag	0.591													8	167	---	---	---	---						-	57731887	GGA	-	57731885	7	5	37	1	0	1	0	1	0	0	0	0	2769	1335	47	0	26	0	CCDC135	16	57731885	In_Frame_Del	DEL	GGA	TCGA-DB-A4XH-01A-11D-A27K-08	10001532	57731885	32622868	47	1478											
CES2	8824	broad.mit.edu	37	chr16	66977769	66977770	+	Frame_Shift_Ins	INS	-	-	T																															atggcgagggtctgccacacINStggccgctgttcgaccagga																										TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr16:66977769_66977770insT	uc002eqr.3	+	11	2713_2714	c.1713_1714insT	c.(1711-1716)cactggfs	p.H571fs	CES2_uc002eqq.3_Frame_Shift_Ins_p.H555fs|CES2_uc002eqs.3_Frame_Shift_Ins_p.H414fs	NM_003869	NP_003860	O00748	EST2_HUMAN	Homo sapiens carboxylesterase 2 (CES2), transcript variant 1, mRNA.	507					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		GTCTGCCACACTGGCCGCTGTT	0.634													7	112	---	---	---	---						T	66977770	-	T	66977769	7	5	37	1	0	1	1	0	0	0	0	0	3270	564	20	0	1759	0	CES2	16	66977769	Frame_Shift_Ins	INS	-	TCGA-DB-A4XH-01A-11D-A27K-08	9245884	66977769	23376984	48	1479											
WDR7	23335	broad.mit.edu	37	chr18	54446754	54446754	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttctggagatgctggccCgaagatggcaagatcgatgc	9	8	13	11	2	1	3	0	0	1	3	2	6	1	3	2	3	2	2	2	3	2	1			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr18:54446754C>T	uc002lgk.1	+	17	3251	c.3040C>T	c.(3040-3042)Cga>Tga	p.R1014*	WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Nonsense_Mutation_p.R981*	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	1014								p.R1014R(2)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GATGCTGGCCCGAAGATGGCA	0.413													6	42					0	0	1	0	0	T	54446754	C	T	54446754	4	4	37	1	0	0	0	0	0	1	0	0	17317	644	23	2	3106	2	WDR7	18	54446754	Nonsense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08		54446754	23630494	49	1480											
OR1M1	125963	broad.mit.edu	37	chr19	9204546	9204546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagggatggtgatagccaCgccctttgtctgcatcctgg	6	10	14	11	1	1	1	0	1	1	0	2	2	2	2	3	4	2	2	3	4	1	2			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr19:9204546C>T	uc010xkj.2	+	0	626	c.626C>T	c.(625-627)aCg>aTg	p.T209M		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GTGATAGCCACGCCCTTTGTC	0.567													52	74					0	0	1	0	0	T	9204546	C	T	9204546	3	4	37	1	0	0	0	0	1	0	0	0	10968	536	19	1	628	1	OR1M1	19	9204546	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08		9204546	49924437	50	1481											
CYP4F12	66002	broad.mit.edu	37	chr19	15791259	15791259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccaccgtcggatgctgaCgcccgccttccatttcaaca	7	8	8	18	5	1	1	1	1	0	0	3	2	2	2	6	1	2	1	6	1	1	2			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr19:15791259C>T	uc002nbl.3	+	4	574	c.455C>T	c.(454-456)aCg>aTg	p.T152M	CYP4F12_uc010xoo.2_Missense_Mutation_p.T152M|CYP4F12_uc010xop.2_3'UTR	NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.									p.T152M(4)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CGGATGCTGACGCCCGCCTTC	0.542													4	36					0	0	1	0	0	T	15791259	C	T	15791259	3	4	37	1	0	0	0	0	1	0	0	0	4187	536	19	1	469	1	CYP4F12	19	15791259	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	6586713	15791259	43337724	51	1482											
HIPK4	147746	broad.mit.edu	37	chr19	40895408	40895408	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcaggcttgagatcagcGtggatgatagccagctcctt	8	12	11	10	1	2	2	2	2	1	1	4	4	3	3	2	2	3	2	2	2	1	4			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr19:40895408G>A	uc002onp.3	-	0	687	c.402C>T	c.(400-402)caC>caT	p.H134H		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Homo sapiens homeodomain interacting protein kinase 4 (HIPK4), mRNA.	134	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TGAGATCAGCGTGGATGATAG	0.627													4	30					0	0	1	0	0	A	40895408	G	A	40895408	2	1	37	1	0	0	0	0	0	0	0	1	7119	1136	40	1		1	HIPK4	19	40895408	Silent	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	25104149	40895408	18233575	52	1483											
NDUFA3	4696	broad.mit.edu	37	chr19	54610132	54610135	+	Frame_Shift_Del	DEL	GATG	GATG	-																															ccacagtgcccgtccgtgatGatgggaacatgcccgacgtg																										TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr19:54610132_54610135delGATG	uc002qde.3	+	3	205_208	c.178_181delGATG	c.(178-183)gatgggfs	p.D60fs	NDUFA3_uc002qdf.3_Non-coding_Transcript	NM_004542	NP_004533	O95167	NDUA3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa (NDUFA3), mRNA.	60					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)	2	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)				NADH(DB00157)	CGTCCGTGATGATGGGAACATGCC	0.642													11	6	---	---	---	---						-	54610135	GATG	-	54610132	7	5	37	1	0	1	0	1	0	0	0	0	10265	1290	45	0	192	0	NDUFA3	19	54610132	Frame_Shift_Del	DEL	GATG	TCGA-DB-A4XH-01A-11D-A27K-08	13714724	54610132	4518851	53	1484											
PAK7	57144	broad.mit.edu	37	chr20	9561502	9561502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tagggagttggagcgagtcaCcgagatgttgtcaaaatcct	11	10	13	7	2	2	1	2	0	0	1	3	5	3	3	2	2	1	2	2	2	3	3			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr20:9561502C>T	uc002wnl.2	-	4	825	c.280G>A	c.(280-282)Gtg>Atg	p.V94M	PAK7_uc002wnk.2_Missense_Mutation_p.V94M|PAK7_uc002wnj.2_Missense_Mutation_p.V94M|PAK7_uc010gby.1_Missense_Mutation_p.V94M	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	94	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GAGCGAGTCACCGAGATGTTG	0.517													82	132					0	0	1	0	0	T	9561502	C	T	9561502	3	4	37	1	0	0	0	0	1	0	0	0	11405	507	18	3	1907	3	PAK7	20	9561502	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08		9561502	53464018	54	1485											
SSTR4	6754	broad.mit.edu	37	chr20	23016949	23016949	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctggatgcctttctacGtggtgcagctgctgaacctc	5	13	11	12	1	2	1	0	1	2	0	3	2	2	2	2	2	7	4	2	2	2	2			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr20:23016949G>A	uc002wsr.2	+	0	893	c.829G>A	c.(829-831)Gtg>Atg	p.V277M		NM_001052	NP_001043	P31391	SSR4_HUMAN	Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.	277					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	p.Y276Y(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCCTTTCTACGTGGTGCAGCT	0.587													5	114					0	0	1	0	0	A	23016949	G	A	23016949	3	1	37	1	0	0	0	0	1	0	0	0	15199	1145	40	1	831	1	SSTR4	20	23016949	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	13455447	23016949	40008571	55	1486											
TUBB1	81027	broad.mit.edu	37	chr20	57597953	57597953	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttggctgggagcgaccgCggggcctcggccttgcagct	4	7	17	13	4	0	0	0	0	0	0	1	3	0	1	3	5	3	3	3	5	0	2	rs150453159	byFrequency	TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr20:57597953C>T	uc002yak.3	+	1	380	c.111C>T	c.(109-111)cgC>cgT	p.R37R		NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	Homo sapiens tubulin, beta 1 class VI (TUBB1), mRNA.	37					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GGAGCGACCGCGGGGCCTCGG	0.597													26	36					0	0	1	0	0	T	57597953	C	T	57597953	2	4	37	1	0	0	0	0	0	0	0	1	16750	755	27	1		1	TUBB1	20	57597953	Silent	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	34581004	57597953	5427567	56	1487											
ASPHD2	57168	broad.mit.edu	37	chr22	26830386	26830386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacaatgtttttgggaacGcgtgcatctctgtgctgagc	8	12	13	8	2	1	1	0	1	1	0	2	3	1	3	0	2	5	3	0	2	3	2			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr22:26830386G>A	uc003acg.2	+	1	1202	c.805G>A	c.(805-807)Gcg>Acg	p.A269T		NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN	Homo sapiens aspartate beta-hydroxylase domain containing 2 (ASPHD2), mRNA.	269					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	p.A243T(1)		endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						TTTTGGGAACGCGTGCATCTC	0.547													6	199					0	0	1	0	0	A	26830386	G	A	26830386	3	1	37	1	0	0	0	0	1	0	0	0	1055	1087	38	1	807	1	ASPHD2	22	26830386	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08		26830386	24474180	57	1488											
PDHA1	5160	broad.mit.edu	37	chrX	19368154	19368154	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgatgcagactgtacgcCgaatggagttgaaagcagat	13	8	14	6	2	0	4	0	2	0	2	0	7	0	6	1	2	3	4	1	2	3	2			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:19368154C>T	uc004czg.4	+	2	362	c.217C>T	c.(217-219)Cga>Tga	p.R73*	PDHA1_uc004czh.4_Nonsense_Mutation_p.R111*|PDHA1_uc011mjc.2_Nonsense_Mutation_p.R73*|PDHA1_uc011mjd.2_Nonsense_Mutation_p.R73*	NM_000284	NP_000275	P08559	ODPA_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	73					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	GACTGTACGCCGAATGGAGTT	0.483													7	145					0	0	1	0	0	T	19368154	C	T	19368154	4	4	37	1	0	0	0	0	0	1	0	0	11664	644	23	2	345	2	PDHA1	23	19368154	Nonsense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08		19368154	135902406	58	1489											
FAM48B1	100130302	broad.mit.edu	37	chrX	24380951	24380951	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaacagagacctcctaGaaggagatactcacctaggg	13	6	10	12	0	1	3	1	0	0	3	2	5	2	3	4	2	3	0	4	2	5	3			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:24380951G>T	uc011mjx.2	+	0	74	c.74G>T	c.(73-75)aGa>aTa	p.R25I		NM_001136234	NP_001129706			Homo sapiens family with sequence similarity 48, member B1 (FAM48B1), mRNA.											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(1)|skin(1)	26						AGACCTCCTAGAAGGAGATAC	0.443													35	75					1.90571e-15	1.98978e-15	1	1	0	T	24380951	G	T	24380951	3	4	37	1	0	0	0	0	1	0	0	0	5573	942	33	5	76	5	FAM48B1	23	24380951	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	5012797	24380951	130889609	59	1490											
PPP1R3F	89801	broad.mit.edu	37	chrX	49126932	49126932	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccagcgcgctacgtcccGcgcagcccgccgtgggcagg	5	3	14	19	7	0	0	0	0	0	0	1	0	1	0	4	2	3	3	4	2	1	1			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:49126932G>A	uc004dnh.2	+	0	627	c.600G>A	c.(598-600)ccG>ccA	p.P200P	PPP1R3F_uc004dni.3_Intron|PPP1R3F_uc011mnd.2_Intron	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3F (PPP1R3F), transcript variant 1, mRNA.	200	CBM21.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					GCTACGTCCCGCGCAGCCCGC	0.706													21	21					0	0	1	0	0	A	49126932	G	A	49126932	2	1	37	1	0	0	0	0	0	0	0	1	12375	1074	38	1		1	PPP1R3F	23	49126932	Silent	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	24745981	49126932	106143628	60	1491											
ZC3H12B	340554	broad.mit.edu	37	chrX	64721964	64721964	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagcctgaggctagttctgtCccctcgcttgtgactgccct	5	12	10	14	1	1	2	0	2	1	0	3	2	2	2	4	1	2	3	4	1	2	3			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:64721964C>A	uc010nko.3	+	4	1453	c.1386C>A	c.(1384-1386)gtC>gtA	p.V462V		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.	451							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTAGTTCTGTCCCCTCGCTTG	0.607													12	116					0.38729	0.38729	1	1	0	A	64721964	C	A	64721964	2	1	37	1	0	0	0	0	0	0	0	1	17559	842	30	5		5	ZC3H12B	23	64721964	Silent	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	15595032	64721964	90548596	61	1492											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299120	125299120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggccagggcccgtaccttgCggttgctggggttggtgctg	3	10	18	10	2	0	0	0	0	0	0	0	0	0	0	3	6	4	5	3	6	1	4			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:125299120C>T	uc004euk.2	-	0	961	c.788G>A	c.(787-789)cGc>cAc	p.R263H		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	263										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCGTACCTTGCGGTTGCTGGG	0.637													5	91					0	0	1	0	0	T	125299120	C	T	125299120	3	4	37	1	0	0	0	0	1	0	0	0	4265	768	27	1	607	1	DCAF12L2	23	125299120	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	60577156	125299120	29971440	62	1493											
ZNF280C	55609	broad.mit.edu	37	chrX	129354412	129354412	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctttctccttgctggtcaAaaattgtagtctgcattttg	8	17	8	8	0	3	0	1	0	2	0	4	0	3	0	1	1	3	4	1	1	3	6			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:129354412A>G	uc004evm.3	-	12	1641	c.1438T>C	c.(1438-1440)Ttg>Ctg	p.L480L	ZNF280C_uc010nrf.2_Silent_p.L431L	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	Homo sapiens zinc finger protein 280C (ZNF280C), mRNA.	480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TTGCTGGTCAAAAATTGTAGT	0.393													9	156					0	0	1	0	0	G	129354412	A	G	129354412	2	3	37	1	0	0	0	0	0	0	0	1	17813	11	1	3		3	ZNF280C	23	129354412	Silent	SNP	A	TCGA-DB-A4XH-01A-11D-A27K-08	4055292	129354412	25916148	63	1494											
PLAC1	10761	broad.mit.edu	37	chrX	133700590	133700590	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatcgttgtttagcatgaaGgggtgcactgtgaccatgaa	11	11	12	7	1	0	3	0	3	0	0	1	3	0	3	1	2	2	4	1	2	3	3			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:133700590G>C	uc004exo.1	-	2	409	c.123C>G	c.(121-123)ccC>ccG	p.P41P	PLAC1_uc004exp.1_Silent_p.P41P|PLAC1_uc022cei.1_Silent_p.P41P	NM_021796	NP_068568	Q9HBJ0	PLAC1_HUMAN	Homo sapiens placenta-specific 1 (PLAC1), mRNA.	41					placenta development	extracellular region				large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					TTAGCATGAAGGGGTGCACTG	0.517													129	172					0	0	1	0	0	C	133700590	G	C	133700590	2	2	37	1	0	0	0	0	0	0	0	1	12012	987	35	5		5	PLAC1	23	133700590	Silent	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	4346178	133700590	21569970	64	1495											
SPANXE	171489	broad.mit.edu	37	chrX	140785691	140785691	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttggagggggttgattctGttctttcgggcgtggtcatt	4	17	15	5	2	3	1	1	1	2	0	4	2	3	2	0	5	0	2	0	5	0	6			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:140785691G>T	uc004fbq.3	-	1	318	c.225C>A	c.(223-225)aaC>aaA	p.N75K		NM_145665	NP_663698	Q8TAD1	SPNXE_HUMAN	Homo sapiens SPANX family, member E (SPANXE), mRNA.	75						cytoplasm|nucleus						Acute lymphoblastic leukemia(192;7.65e-05)					GGTTGATTCTGTTCTTTCGGG	0.443													22	335					2.27525e-19	2.44762e-19	1	1	0	T	140785691	G	T	140785691	3	4	37	1	0	0	0	0	1	0	0	0	14989	1368	48	5	72	5	SPANXE	23	140785691	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	7085101	140785691	14484869	65	1496											
PNMA3	29944	broad.mit.edu	37	chrX	152226071	152226071	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccaggtggtcagtgggcTccgggccagcaatgcttcca	6	9	13	13	1	2	0	1	0	1	0	5	0	4	0	4	4	2	3	4	4	1	1			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:152226071T>C	uc022cho.1	+	0	659	c.659T>C	c.(658-660)cTc>cCc	p.L220P	PNMA3_uc004fhc.2_Missense_Mutation_p.L220P|PNMA3_uc004fhd.3_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	Homo sapiens paraneoplastic antigen MA3 (PNMA3), mRNA.	220					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					gtcagtgggctccgggccagc	0.592													8	219					0	0	1	0	0	C	152226071	T	C	152226071	3	2	37	1	0	0	0	0	1	0	0	0	12155	1551	54	4	661	4	PNMA3	23	152226071	Missense_Mutation	SNP	T	TCGA-DB-A4XH-01A-11D-A27K-08	11440380	152226071	3044489	66	1497											
C1orf38	9473	broad.mit.edu	37	chr1	28208811	28208811	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaccaaggcaagctgcggCggcggccaagggagttcccc	8	4	15	14	3	0	0	0	0	0	0	1	1	1	1	4	5	3	4	4	5	4	2			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:28208811C>T	uc001bpc.4	+	3	1004	c.976C>T	c.(976-978)Cgg>Tgg	p.R326W	C1orf38_uc001bpa.3_Intron|C1orf38_uc001boz.3_Intron|C1orf38_uc010ofn.2_Intron|C1orf38_uc010ofo.2_Intron	NM_001105556	NP_001099026	Q5TEJ8	THMS2_HUMAN	Homo sapiens chromosome 1 open reading frame 38 (C1orf38), transcript variant 3, mRNA.	326	CABIT 2.				cell adhesion|inflammatory response					endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;2.52e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGCTGCGGCGGCGGCCAAG	0.677													6	18					0	0	1	0	0	T	28208811	C	T	28208811	3	4	38	1	0	0	0	0	1	0	0	0	2039	759	27	1	990	1	C1orf38	1	28208811	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08		28208811	221041810	1	1498											
PTCH2	8643	broad.mit.edu	37	chr1	45291949	45291949	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtggactgtgaactcaacGccaatgcctacagaggccac	12	6	10	13	2	1	2	1	1	0	1	1	3	1	3	3	2	4	0	3	2	4	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:45291949G>A	uc010olf.2	-	18	3099	c.3087C>T	c.(3085-3087)ggC>ggT	p.G1029G	PTCH2_uc021omv.1_Silent_p.G1029G|PTCH2_uc010olg.2_Silent_p.G727G	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	1029					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TGAACTCAACGCCAATGCCTA	0.542									Basal Cell Nevus syndrome				20	20					0	0	1	0	0	A	45291949	G	A	45291949	2	1	38	1	0	0	0	0	0	0	0	1	12731	1074	38	1		1	PTCH2	1	45291949	Silent	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	17083138	45291949	203958672	2	1499											
FUBP1	8880	broad.mit.edu	37	chr1	78432436	78432436	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctggaaggccaccactgtCtacaatttaaaacaaacaga	16	9	6	10	0	2	1	0	0	2	1	2	2	2	2	2	2	3	0	2	2	6	4			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:78432436C>T	uc001dii.3	-	7	505	c.416_splice	c.e7-1	p.D139_splice	FUBP1_uc001dih.4_Splice_Site|FUBP1_uc010orm.2_Splice_Site_p.D160_splice	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	139	KH 1.				transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CCACCACTGTCTACAATTTAA	0.318			"F, N"		oligodendroglioma								9	14					0	0	1	0	0	T	78432436	C	T	78432436	5	4	38	1	0	0	0	0	0	0	1	0	6092	927	32	3	1575	3	FUBP1	1	78432436	Splice_Site	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	33140487	78432436	170818185	3	1500											
FLG	2312	broad.mit.edu	37	chr1	152280318	152280318	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcagatgaagcttgtccGtgcccaatgcctgagtgtct	8	11	11	11	1	1	3	0	2	1	1	2	3	2	3	3	0	4	2	3	0	2	1	rs147071702	byFrequency	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:152280318G>A	uc001ezu.1	-	2	7080	c.7044C>T	c.(7042-7044)caC>caT	p.H2348H		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2348	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGCTTGTCCGTGCCCAATGC	0.552									Ichthyosis				6	636					0	0	1	0	0	A	152280318	G	A	152280318	2	1	38	1	0	0	0	0	0	0	0	1	5922	1136	40	1		1	FLG	1	152280318	Silent	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	73847882	152280318	96970303	4	1501											
FLG	2312	broad.mit.edu	37	chr1	152285513	152285513	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggctaacactggatccctGgttcctacttgtcctgggcc	5	12	10	14	0	0	0	0	0	0	0	3	1	3	1	4	4	2	2	4	4	2	4			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:152285513G>C	uc001ezu.1	-	2	1885	c.1849C>G	c.(1849-1851)Cag>Gag	p.Q617E	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	617	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGATCCCTGGTTCCTACTT	0.552									Ichthyosis				13	492					0	0	1	0	0	C	152285513	G	C	152285513	3	2	38	1	0	0	0	0	1	0	0	0	5922	1357	47	5	10340	5	FLG	1	152285513	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	5195	152285513	96965108	5	1502											
OR10J1	26476	broad.mit.edu	37	chr1	159409585	159409586	+	Frame_Shift_Del	DEL	AA	AA	-																															gatttgggaaccaatccatgAaaagagagaactttactctc																										TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:159409585_159409586delAA	uc010piv.2	+	0	74_75	c.37_38delAA	c.(37-39)aaafs	p.K13fs	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	13					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CCAATCCATGAAAAGAGAGAAC	0.386													13	85	---	---	---	---						-	159409586	AA	-	159409585	7	5	38	1	0	1	0	1	0	0	0	0	10910	247	9	0	39	0	OR10J1	1	159409585	Frame_Shift_Del	DEL	AA	TCGA-DB-A64L-01A-11D-A29Q-08	7124072	159409585	89841036	6	1503											
IGSF8	93185	broad.mit.edu	37	chr1	160062140	160062140	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctggtaccagctgtagtcgGcatgctgcacccaggcgctg	6	8	13	14	2	0	0	0	0	0	0	1	0	0	0	3	3	4	7	3	3	2	2			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:160062140G>A	uc001fva.3	-	4	1703	c.1658C>T	c.(1657-1659)gCc>gTc	p.A553V	IGSF8_uc001fuz.3_Missense_Mutation_p.A553V|IGSF8_uc009wtf.3_Missense_Mutation_p.A553V	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	Homo sapiens immunoglobulin superfamily, member 8 (IGSF8), transcript variant 1, mRNA.	553	Ig-like C2-type 4.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	p.A553V(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCTGTAGTCGGCATGCTGCAC	0.647													4	165					0	0	1	0	0	A	160062140	G	A	160062140	3	1	38	1	0	0	0	0	1	0	0	0	7604	1203	42	3	191	3	IGSF8	1	160062140	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	652555	160062140	89188481	7	1504											
ATP1A4	480	broad.mit.edu	37	chr1	160136482	160136482	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatgtggtttgatatgacCgtgtatgaggccgacaccac	10	10	11	10	2	0	3	0	3	0	0	0	4	0	3	3	2	0	2	3	2	2	3			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:160136482C>T	uc001fve.4	+	7	1691	c.1212C>T	c.(1210-1212)acC>acT	p.T404T	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_5'UTR	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	404					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTGATATGACCGTGTATGAGG	0.562													7	139					0	0	1	0	0	T	160136482	C	T	160136482	2	4	38	1	0	0	0	0	0	0	0	1	1131	639	23	2		2	ATP1A4	1	160136482	Silent	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	74342	160136482	89114139	8	1505											
FCRLA	84824	broad.mit.edu	37	chr1	161681131	161681131	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcagctctgggtcccccCgggcctaacagggaattctc	6	8	12	15	1	3	0	1	0	2	0	5	1	4	1	4	4	2	2	4	4	2	2			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:161681131C>T	uc001gbe.3	+	3	677	c.435C>T	c.(433-435)ccC>ccT	p.P145P	FCRLA_uc001gbg.3_Intron|FCRLA_uc009wup.3_Intron|FCRLA_uc009wuq.3_Intron|FCRLA_uc001gbd.3_Silent_p.P139P|FCRLA_uc001gbf.3_Intron|FCRLA_uc009wuo.3_Intron	NM_001184866	NP_001171795	Q7L513	FCRLA_HUMAN	Homo sapiens Fc receptor-like A (FCRLA), transcript variant 1, mRNA.	122	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TGGGTCCCCCCGGGCCTAACA	0.602													31	72					0	0	1	0	0	T	161681131	C	T	161681131	2	4	38	1	0	0	0	0	0	0	0	1	5800	639	23	2		2	FCRLA	1	161681131	Silent	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	1544649	161681131	87569490	9	1506											
KLHL20	27252	broad.mit.edu	37	chr1	173726268	173726268	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgcagtaggaggccatgAtggatcctcttatctcaata	12	12	9	8	0	2	1	1	1	2	0	4	3	3	3	2	3	1	2	2	3	5	4			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:173726268A>T	uc001gjc.3	+	6	1300	c.1121A>T	c.(1120-1122)gAt>gTt	p.D374V	KLHL20_uc010pmr.2_Missense_Mutation_p.D185V|KLHL20_uc009wwf.3_Missense_Mutation_p.D356V	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	Homo sapiens kelch-like 20 (Drosophila) (KLHL20), mRNA.	374					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	Cul3-RING ubiquitin ligase complex|Golgi apparatus|PML body|actin cytoskeleton|cell surface|perinuclear region of cytoplasm	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						GGAGGCCATGATGGATCCTCT	0.383													4	121					0	0	1	0	0	T	173726268	A	T	173726268	3	4	38	1	0	0	0	0	1	0	0	0	8375	333	12	5	1143	5	KLHL20	1	173726268	Missense_Mutation	SNP	A	TCGA-DB-A64L-01A-11D-A29Q-08	12045137	173726268	75524353	10	1507											
HMCN1	83872	broad.mit.edu	37	chr1	186092329	186092329	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagcaggatcaagcagcaCaagcaccaagctcaccgtcc	13	5	9	14	1	2	0	2	0	0	0	3	1	3	1	3	1	5	6	3	1	4	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:186092329C>G	uc001grq.1	+	80	12705	c.12476C>G	c.(12475-12477)aCa>aGa	p.T4159R	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4159	Ig-like C2-type 40.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCAAGCAGCACAAGCACCAAG	0.493													7	25					0	0	1	0	0	G	186092329	C	G	186092329	3	3	38	1	0	0	0	0	1	0	0	0	7220	478	17	5	12798	5	HMCN1	1	186092329	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	12366061	186092329	63158292	11	1508											
USH2A	7399	broad.mit.edu	37	chr1	215972309	215972309	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactctaaatcgttgctcaCaatctgtctgccacagcact	11	11	5	14	1	4	0	1	0	3	0	5	0	4	0	1	0	3	3	1	0	3	2			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:215972309C>A	uc001hku.1	-	49	10285	c.9898G>T	c.(9898-9900)Gtg>Ttg	p.V3300L		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3300					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCGTTGCTCACAATCTGTCTG	0.527										HNSCC(13;0.011)			5	115					0.000602214	0.000634394	1	1	0	A	215972309	C	A	215972309	3	1	38	1	0	0	0	0	1	0	0	0	17033	478	17	5	5802	5	USH2A	1	215972309	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	29879980	215972309	33278312	12	1509											
ABCB10	23456	broad.mit.edu	37	chr1	229666080	229666080	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatatgggcacctctgggCgagctggataggcaaaatgc	12	7	14	8	1	1	0	0	0	1	0	1	3	1	1	1	4	2	3	1	4	5	2			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:229666080C>T	uc001htp.4	-	7	1554	c.1511G>A	c.(1510-1512)cGc>cAc	p.R504H		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 10 (ABCB10), nuclear gene encoding mitochondrial protein, mRNA.	504	ABC transporter.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CACCTCTGGGCGAGCTGGATA	0.458													51	174					0	0	1	0	0	T	229666080	C	T	229666080	3	4	38	1	0	0	0	0	1	0	0	0	41	768	27	1	729	1	ABCB10	1	229666080	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	13693771	229666080	19584541	13	1510											
PROKR1	10887	broad.mit.edu	37	chr2	68873234	68873234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtccgctacaagaaactgcGcaacctcaccaacctgctca	12	6	7	16	2	2	1	2	0	0	1	3	1	3	1	4	1	6	3	4	1	5	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr2:68873234G>A	uc010yqj.2	+	0	441	c.281G>A	c.(280-282)cGc>cAc	p.R94H	PROKR1_uc002ses.3_Non-coding_Transcript	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	Homo sapiens prokineticin receptor 1 (PROKR1), mRNA.	94						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.R94C(1)		endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AAGAAACTGCGCAACCTCACC	0.557													18	212					0	0	1	0	0	A	68873234	G	A	68873234	3	1	38	1	0	0	0	0	1	0	0	0	12552	1087	38	1	283	1	PROKR1	2	68873234	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08		68873234	174326139	14	1511											
ADRA2B	151	broad.mit.edu	37	chr2	96781415	96781415	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcactgggggcgcccgcgCggctgggggccctggtcgcc	1	6	19	15	5	0	0	0	0	0	0	1	0	0	0	3	6	1	2	3	6	0	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr2:96781415C>T	uc021vlh.1	-	0	474	c.474G>A	c.(472-474)ccG>ccA	p.P158P		NM_000682	NP_000673	P18089	ADA2B_HUMAN	Homo sapiens adrenergic, alpha-2B-, receptor (ADRA2B), mRNA.	158					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding	p.P158L(1)|p.P158Q(1)		endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GGCGCCCGCGCGGCTGGGGGC	0.637													10	52					0	0	1	0	0	T	96781415	C	T	96781415	2	4	38	1	0	0	0	0	0	0	0	1	338	755	27	1		1	ADRA2B	2	96781415	Silent	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	27908181	96781415	146417958	15	1512											
SLC5A7	60482	broad.mit.edu	37	chr2	108604713	108604713	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaccaaaaacagtggcagCgcagaagagcgcagcgaagc	17	1	13	10	3	0	3	0	0	0	3	0	4	0	3	1	1	6	3	1	1	5	0			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr2:108604713C>T	uc002tdv.3	+	1	378	c.102C>T	c.(100-102)agC>agT	p.S34S	SLC5A7_uc010ywm.2_5'UTR|SLC5A7_uc010fjj.3_Silent_p.S34S|SLC5A7_uc010ywn.2_Intron	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	34					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	ACAGTGGCAGCGCAGAAGAGC	0.502													30	75					0	0	1	0	0	T	108604713	C	T	108604713	2	4	38	1	0	0	0	0	0	0	0	1	14670	767	27	1		1	SLC5A7	2	108604713	Silent	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	11823298	108604713	134594660	16	1513											
SP3	6670	broad.mit.edu	37	chr2	174777827	174777827	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctgtgcctctgtaatTcatcacttcgagtaaatctt	8	18	5	10	1	6	0	2	0	4	0	7	1	6	0	1	0	1	2	1	0	3	7			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr2:174777827T>C	uc002uig.3	-	5	2531	c.2000A>G	c.(1999-2001)gAa>gGa	p.E667G	SP3_uc002uie.3_Missense_Mutation_p.E599G|SP3_uc002uif.3_Missense_Mutation_p.E614G|SP3_uc010zel.2_Missense_Mutation_p.E664G	NM_003111	NP_003102	Q02447	SP3_HUMAN	Homo sapiens Sp3 transcription factor (SP3), transcript variant 1, mRNA.	667					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			CCTCTGTAATTCATCACTTCG	0.378													11	44					0	0	1	0	0	C	174777827	T	C	174777827	3	2	38	1	0	0	0	0	1	0	0	0	14965	1783	62	3	353	3	SP3	2	174777827	Missense_Mutation	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08	66173114	174777827	68421546	17	1514											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								21	42					0	0	1	0	0	T	209113112	C	T	209113112	3	4	38	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	34335285	209113112	34086261	18	1515											
TIMP4	7079	broad.mit.edu	37	chr3	12195065	12195065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgagaggcaggtggccccGgtaccagctgcaggtgccgt	6	6	16	13	2	0	1	0	1	0	1	0	2	0	1	5	5	4	4	5	5	1	1	rs144326666	byFrequency	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr3:12195065G>A	uc003bwo.3	-	4	1136	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	SYN2_uc003bwl.1_Intron|SYN2_uc003bwm.3_Intron|SYN2_uc003bwn.3_Intron	NM_003256	NP_003247	Q99727	TIMP4_HUMAN	Homo sapiens TIMP metallopeptidase inhibitor 4 (TIMP4), mRNA.	209							metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						AGGTGGCCCCGGTACCAGCTG	0.532													5	181					0	0	1	0	0	A	12195065	G	A	12195065	3	1	38	1	0	0	0	0	1	0	0	0	15917	1115	39	2	53	2	TIMP4	3	12195065	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08		12195065	185827365	19	1516											
TRIM71	131405	broad.mit.edu	37	chr3	32932670	32932670	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttcgaccgaccagccggCgtggcctgtgacgcctcacg	6	6	13	16	6	1	1	1	1	0	0	2	3	1	1	5	2	1	1	5	2	0	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr3:32932670C>T	uc003cff.3	+	3	2037	c.1974C>T	c.(1972-1974)ggC>ggT	p.G658G		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	658					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GACCAGCCGGCGTGGCCTGTG	0.622													26	62					0	0	1	0	0	T	32932670	C	T	32932670	2	4	38	1	0	0	0	0	0	0	0	1	16541	755	27	1		1	TRIM71	3	32932670	Silent	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	20737605	32932670	165089760	20	1517											
GTPBP8	29083	broad.mit.edu	37	chr3	112709901	112709901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gactctttgaaatgcctgcgGtgctagagcgactgagccgc	8	9	13	11	3	1	3	0	2	1	1	1	5	1	3	2	1	5	1	2	1	2	2			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr3:112709901G>A	uc003dzn.3	+	0	102	c.55G>A	c.(55-57)Gtg>Atg	p.V19M	GTPBP8_uc003dzp.2_Non-coding_Transcript|GTPBP8_uc003dzo.3_Missense_Mutation_p.V19M	NM_014170	NP_054889	Q8N3Z3	GTPB8_HUMAN	Homo sapiens GTP-binding protein 8 (putative) (GTPBP8), transcript variant 1, mRNA.	19					barrier septum formation		GTP binding			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						AATGCCTGCGGTGCTAGAGCG	0.607													38	37					0	0	1	0	0	A	112709901	G	A	112709901	3	1	38	1	0	0	0	0	1	0	0	0	6884	1261	44	3	57	3	GTPBP8	3	112709901	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	79777231	112709901	85312529	21	1518											
RABL3	285282	broad.mit.edu	37	chr3	120417392	120417392	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taccaacagtggtatttggtTatcagcaaactgttcttgat	11	15	8	7	0	2	1	1	1	1	0	2	1	2	1	1	2	4	4	1	2	5	6			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr3:120417392T>A	uc003edx.3	-	4	442	c.412A>T	c.(412-414)Aac>Tac	p.N138Y		NM_173825	NP_776186	Q5HYI8	RABL3_HUMAN	Homo sapiens RAB, member of RAS oncogene family-like 3 (RABL3), mRNA.	138	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		GGTATTTGGTTATCAGCAAAC	0.363													73	157					0	0	1	0	0	A	120417392	T	A	120417392	3	1	38	1	0	0	0	0	1	0	0	0	12972	1754	61	5	314	5	RABL3	3	120417392	Missense_Mutation	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08	7707491	120417392	77605038	22	1519											
KALRN	8997	broad.mit.edu	37	chr3	124385314	124385314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggcactctgactgctcagGggaagctgctgcagcaggac	9	6	15	11	0	2	1	1	1	1	0	2	3	2	3	0	4	5	6	0	4	1	0			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr3:124385314G>A	uc003ehg.3	+	45	6488	c.6361G>A	c.(6361-6363)Ggg>Agg	p.G2121R	KALRN_uc003ehi.3_Missense_Mutation_p.G462R|KALRN_uc003ehk.3_Missense_Mutation_p.G424R|KALRN_uc011bjz.2_Missense_Mutation_p.G213R	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2120	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GACTGCTCAGGGGAAGCTGCT	0.572													4	50					0	0	1	0	0	A	124385314	G	A	124385314	3	1	38	1	0	0	0	0	1	0	0	0	7975	1232	43	3	6699	3	KALRN	3	124385314	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	3967922	124385314	73637116	23	1520											
PLD1	5337	broad.mit.edu	37	chr3	171455769	171455769	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgtgtccagattttctaTgatattactcatgtcagcag	9	14	8	10	2	3	2	2	1	1	1	4	2	4	2	2	0	2	1	2	0	3	5			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr3:171455769T>A	uc003fhs.3	-	1	420	c.73A>T	c.(73-75)Ata>Tta	p.I25L	PLD1_uc003fht.3_Missense_Mutation_p.I25L	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	25					Ras protein signal transduction|cell communication|chemotaxis	Golgi membrane|endoplasmic reticulum membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	AGATTTTCTATGATATTACTC	0.458													23	66					0	0	1	0	0	A	171455769	T	A	171455769	3	1	38	1	0	0	0	0	1	0	0	0	12045	1464	51	5	3255	5	PLD1	3	171455769	Missense_Mutation	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08	47070455	171455769	26566661	24	1521											
EPHA5	2044	broad.mit.edu	37	chr4	66361141	66361141	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtggatcagactctctcCtgaaataatccttttcacag	10	13	8	10	0	3	2	2	1	1	1	6	3	5	3	2	2	0	0	2	2	2	3			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr4:66361141C>A	uc003hcy.3	-	3	1224	c.1031G>T	c.(1030-1032)aGg>aTg	p.R344M	EPHA5_uc003hcx.3_Missense_Mutation_p.R275M|EPHA5_uc003hcz.3_Missense_Mutation_p.R344M|EPHA5_uc011cah.2_Missense_Mutation_p.R344M|EPHA5_uc011cai.2_Missense_Mutation_p.R344M|EPHA5_uc003hda.2_Missense_Mutation_p.R344M	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	344	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AGACTCTCTCCTGAAATAATC	0.463										TSP Lung(17;0.13)			15	140					5.3912e-06	5.72297e-06	1	1	0	A	66361141	C	A	66361141	3	1	38	1	0	0	0	0	1	0	0	0	5170	681	24	5	2142	5	EPHA5	4	66361141	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08		66361141	124793135	25	1522											
ADH1B	125	broad.mit.edu	37	chr4	100235199	100235199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagcagataggccgacccCtcccaggccaaacacagcac	14	2	8	17	1	0	1	0	0	0	1	1	2	1	1	5	2	4	2	5	2	3	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr4:100235199C>T	uc003hus.4	-	5	691	c.607G>A	c.(607-609)Ggg>Agg	p.G203R	ADH1B_uc003hut.4_Missense_Mutation_p.G163R|ADH1B_uc011ceh.2_Missense_Mutation_p.G48R|ADH1B_uc011cei.1_Missense_Mutation_p.G163R	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	203					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	AGGCCGACCCCTCCCAGGCCA	0.468													6	309					0	0	1	0	0	T	100235199	C	T	100235199	3	4	38	1	0	0	0	0	1	0	0	0	308	681	24	3	536	3	ADH1B	4	100235199	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	33874058	100235199	90919077	26	1523											
OSMR	9180	broad.mit.edu	37	chr5	38923283	38923283	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaggagttcgatatgacttCagaatttatgggttatctac	11	14	9	7	1	2	2	1	1	1	1	3	4	2	3	1	2	1	2	1	2	5	7			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr5:38923283C>T	uc003jln.2	+	12	2199	c.1797C>T	c.(1795-1797)ttC>ttT	p.F599F	OSMR_uc011cpj.2_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	599	Fibronectin type-III 3.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GATATGACTTCAGAATTTATG	0.328													22	42					0	0	1	0	0	T	38923283	C	T	38923283	2	4	38	1	0	0	0	0	0	0	0	1	11292	825	29	3		3	OSMR	5	38923283	Silent	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08		38923283	141991977	27	1524											
PCDHGC5	56097	broad.mit.edu	37	chr5	140710720	140710720	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagagtctcattgccttttGggcaagaccttgatgtgggt	7	13	12	9	0	1	3	1	1	1	2	2	3	1	3	3	2	1	1	3	2	1	4			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr5:140710720G>T	uc003lji.2	+	0	469	c.469G>T	c.(469-471)Ggg>Tgg	p.G157W	PCDHGC5_uc011dan.2_Missense_Mutation_p.G157W	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	157	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGCCTTTTGGGCAAGACCT	0.458													23	134					1.55795e-14	1.70632e-14	1	1	0	T	140710720	G	T	140710720	3	4	38	1	0	0	0	0	1	0	0	0	11571	1348	47	5		5	PCDHGC5	5	140710720	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	101787437	140710720	40204540	28	1525											
KIF4B	285643	broad.mit.edu	37	chr5	154395932	154395932	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcagattgctgacctacAgcagaagctgctggatgcag	10	9	12	10	0	1	3	1	1	0	2	1	4	1	4	1	1	7	6	1	1	2	2			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr5:154395932A>T	uc010jih.1	+	0	2673	c.2513A>T	c.(2512-2514)cAg>cTg	p.Q838L		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	838	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCTGACCTACAGCAGAAGCTG	0.433													4	59					0	0	1	0	0	T	154395932	A	T	154395932	3	4	38	1	0	0	0	0	1	0	0	0	8304	188	7	5	2515	5	KIF4B	5	154395932	Missense_Mutation	SNP	A	TCGA-DB-A64L-01A-11D-A29Q-08	13685212	154395932	26519328	29	1526											
GCNT2	2651	broad.mit.edu	37	chr6	10529180	10529180	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcactgtctttttagcgcGtctcttatctctgccctgat	6	16	7	12	2	3	1	0	1	3	0	5	1	3	1	1	0	3	1	1	0	3	4	rs142352495	by1000genomes	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr6:10529180G>A	uc010joo.3	+	2	587	c.36G>A	c.(34-36)gcG>gcA	p.A12A	GCNT2_uc010jol.3_Intron|GCNT2_uc010jom.3_Intron|GCNT2_uc010jop.3_Intron|GCNT2_uc003mza.3_Intron|GCNT2_uc003mzc.4_Silent_p.A11A	NM_145649	NP_663624	Q8N0V5	GNT2A_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) (GCNT2), transcript variant 1, mRNA.	12						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TTTTTAGCGCGTCTCTTATCT	0.388													11	90					0	0	1	0	0	A	10529180	G	A	10529180	2	1	38	1	0	0	0	0	0	0	0	1	6301	1132	40	1		1	GCNT2	6	10529180	Silent	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08		10529180	160585887	30	1527											
HLA-F	3134	broad.mit.edu	37	chr6	29692052	29692052	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgacggcaaggattacatctCcctgaacgaggacctgcgct	10	7	11	13	4	1	1	0	1	1	0	2	5	1	3	2	3	3	2	2	3	3	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr6:29692052C>G	uc003nno.4	+	2	561	c.437C>G	c.(436-438)tCc>tGc	p.S146C	HLA-F_uc010jrl.3_Missense_Mutation_p.S146C|HLA-F_uc003nnm.4_Missense_Mutation_p.S146C|HLA-F_uc011dlx.1_Missense_Mutation_p.S146C|HLA-F_uc011dly.1_Non-coding_Transcript	NM_001098479	NP_001091949	P30511	HLAF_HUMAN	Homo sapiens major histocompatibility complex, class I, F (HLA-F), transcript variant 1, mRNA.	146	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GATTACATCTCCCTGAACGAG	0.622													8	178					0	0	1	0	0	G	29692052	C	G	29692052	3	3	38	1	0	0	0	0	1	0	0	0	7211	855	30	5	447	5	HLA-F	6	29692052	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	19162872	29692052	141423015	31	1528											
TINAG	27283	broad.mit.edu	37	chr6	54173456	54173456	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacctagaggcttatttcacTaggaatcacaccgttttgca	11	12	8	10	1	2	1	2	0	0	1	2	3	2	2	2	2	1	3	2	2	4	6			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr6:54173456T>C	uc003pcj.2	+	0	254	c.108T>C	c.(106-108)acT>acC	p.T36T	TINAG_uc003pci.3_Silent_p.T36T|TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	36					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CTTATTTCACTAGGAATCACA	0.393													14	107					0	0	1	0	0	C	54173456	T	C	54173456	2	2	38	1	0	0	0	0	0	0	0	1	15918	1509	53	4		4	TINAG	6	54173456	Silent	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08	24481404	54173456	116941611	32	1529											
ICA1	3382	broad.mit.edu	37	chr7	8167703	8167703	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagcattgaagatctcaCtcaacagcagcaggtcatct	14	8	9	10	0	4	2	3	1	2	1	5	3	4	3	0	2	4	3	0	2	3	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr7:8167703C>T	uc003sro.4	-	12	1266	c.1130G>A	c.(1129-1131)aGt>aAt	p.S377N	ICA1_uc010ktr.3_Missense_Mutation_p.S406N|ICA1_uc003srm.3_Missense_Mutation_p.S377N|ICA1_uc003srn.4_Missense_Mutation_p.S303N|ICA1_uc003srq.3_Missense_Mutation_p.S377N|ICA1_uc003srr.3_Missense_Mutation_p.S376N|ICA1_uc010kts.3_Non-coding_Transcript	NM_001136020	NP_071682	Q05084	ICA69_HUMAN	Homo sapiens islet cell autoantigen 1, 69kDa (ICA1), mRNA.	377					neurotransmitter transport	Golgi membrane|cell junction|cytosol|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		GAAGATCTCACTCAACAGCAG	0.542													5	221					0	0	1	0	0	T	8167703	C	T	8167703	3	4	38	1	0	0	0	0	1	0	0	0	7477	565	20	3	329	3	ICA1	7	8167703	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08		8167703	150970960	33	1530											
HOXA11	3207	broad.mit.edu	37	chr7	27224590	27224590	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactctctgaaggtcacttcGcgcacgggttggacctgggg	6	10	14	11	3	2	1	1	1	1	0	4	2	2	2	1	5	1	2	1	5	2	3			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr7:27224590G>A	uc003syx.3	-	0	246	c.174C>T	c.(172-174)cgC>cgT	p.R58R	HOXA11_uc003syy.3_Non-coding_Transcript|HOXA11-AS_uc003syz.1_5'Flank	NM_005523	NP_005514	P31270	HXA11_HUMAN	Homo sapiens homeobox A11 (HOXA11), mRNA.	58					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						AGGTCACTTCGCGCACGGGTT	0.612			T	NUP98	CML						OREG0003747	type=REGULATORY REGION|Gene=BC025338|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	21	141					0	0	1	0	0	A	27224590	G	A	27224590	2	1	38	1	0	0	0	0	0	0	0	1	7290	1074	38	1		1	HOXA11	7	27224590	Silent	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	19056887	27224590	131914073	34	1531											
MUC17	140453	broad.mit.edu	37	chr7	100677937	100677937	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accacttattctcaagccagTtcatcttctacaactgctga	11	13	4	13	0	4	1	2	1	3	0	5	1	4	1	2	0	4	2	2	0	4	5			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr7:100677937T>C	uc003uxp.1	+	2	3293	c.3240T>C	c.(3238-3240)agT>agC	p.S1080S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1080	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.A1079T(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTCAAGCCAGTTCATCTTCTA	0.512													7	1238					0	0	1	0	0	C	100677937	T	C	100677937	2	2	38	1	0	0	0	0	0	0	0	1	9974	1722	60	3		3	MUC17	7	100677937	Silent	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08	73453347	100677937	58460726	35	1532											
MUC17	140453	broad.mit.edu	37	chr7	100678887	100678887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctagtgaaggaaccactcCgttaacaagtatacctgtca	13	10	7	11	1	1	1	1	1	0	0	3	2	3	2	4	1	3	2	4	1	7	4	rs141608296		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr7:100678887C>T	uc003uxp.1	+	2	4243	c.4190C>T	c.(4189-4191)cCg>cTg	p.P1397L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1397	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGAACCACTCCGTTAACAAGT	0.507													48	495					0	0	1	0	0	T	100678887	C	T	100678887	3	4	38	1	0	0	0	0	1	0	0	0	9974	652	23	2	4200	2	MUC17	7	100678887	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	950	100678887	58459776	36	1533											
RINT1	60561	broad.mit.edu	37	chr7	105187664	105187664	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attttagcacagcttcattgGccattcatcgcaccccctca	9	12	5	15	1	3	0	3	0	0	0	4	0	3	0	3	1	2	3	3	1	1	5			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr7:105187664G>A	uc003vda.1	+	5	954	c.723G>A	c.(721-723)tgG>tgA	p.W241*	RINT1_uc010ljj.1_Intron	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	Homo sapiens RAD50 interactor 1 (RINT1), mRNA.	241	RINT1/TIP20.				G2/M transition DNA damage checkpoint|cell cycle|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGCTTCATTGGCCATTCATCG	0.433													5	151					0	0	1	0	0	A	105187664	G	A	105187664	4	1	38	1	0	0	0	0	0	1	0	0	13376	1212	42	3	745	3	RINT1	7	105187664	Nonsense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	4508777	105187664	53950999	37	1534											
RP1	6101	broad.mit.edu	37	chr8	55533908	55533908	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcggcgcccgcggccctggCtcagcagccgggccattagc	4	5	15	17	5	1	0	1	0	0	0	2	0	1	0	4	4	3	2	4	4	1	1	rs147116231	byFrequency	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr8:55533908C>G	uc003xsd.1	+	1	530	c.382C>G	c.(382-384)Ctc>Gtc	p.L128V	RP1_uc011ldy.1_Missense_Mutation_p.L128V	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	128					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCGGCCCTGGCTCAGCAGCCG	0.697													6	184					0	0	1	0	0	G	55533908	C	G	55533908	3	3	38	1	0	0	0	0	1	0	0	0	13532	797	28	5	384	5	RP1	8	55533908	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08		55533908	90830114	38	1535											
KCNB2	9312	broad.mit.edu	37	chr8	73480218	73480218	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgacgactataatctgaaCgagaacgagtatttctttga	13	12	9	7	4	2	3	0	2	2	1	2	7	2	3	0	0	3	1	0	0	5	5			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr8:73480218C>T	uc003xzb.3	+	1	837	c.249C>T	c.(247-249)aaC>aaT	p.N83N		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	83					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ATAATCTGAACGAGAACGAGT	0.517													33	66					0	0	1	0	0	T	73480218	C	T	73480218	2	4	38	1	0	0	0	0	0	0	0	1	8013	535	19	1		1	KCNB2	8	73480218	Silent	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	17946310	73480218	72883804	39	1536											
FZD6	8323	broad.mit.edu	37	chr8	104337523	104337523	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttatttccttaaatcatgttCgacaagtcatacaacatgat	14	15	4	8	1	2	1	2	1	0	0	4	2	3	1	1	0	2	1	1	0	6	5			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr8:104337523C>T	uc003ylh.3	+	3	1479	c.1189C>T	c.(1189-1191)Cga>Tga	p.R397*	FZD6_uc011lhn.2_Nonsense_Mutation_p.R365*|FZD6_uc003ylj.3_Nonsense_Mutation_p.R397*|FZD6_uc011lho.2_Nonsense_Mutation_p.R92*|FZD6_uc011lhp.2_Nonsense_Mutation_p.R342*	NM_001164615	NP_001158088	O60353	FZD6_HUMAN	Homo sapiens frizzled family receptor 6 (FZD6), transcript variant 2, mRNA.	397					G-protein signaling, coupled to cGMP nucleotide second messenger|angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.R397Q(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AAATCATGTTCGACAAGTCAT	0.418													5	202					0	0	1	0	0	T	104337523	C	T	104337523	4	4	38	1	0	0	0	0	0	1	0	0	6134	876	31	2	1199	2	FZD6	8	104337523	Nonsense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	30857305	104337523	42026499	40	1537											
GLIS3	169792	broad.mit.edu	37	chr9	3898784	3898784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccggctgcagggactgcaCggtgaggcaatctgtgagca	8	6	17	10	2	1	2	0	2	1	0	1	3	1	3	1	5	3	5	1	5	1	0			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr9:3898784C>T	uc003zhx.1	-	6	2748	c.2035G>A	c.(2035-2037)Gtg>Atg	p.V679M	GLIS3_uc010mhf.1_Missense_Mutation_p.V73M|GLIS3_uc003zhv.1_Non-coding_Transcript|GLIS3_uc003zhw.1_Missense_Mutation_p.V524M|GLIS3_uc003zhy.1_Missense_Mutation_p.V457M|GLIS3_uc003zhz.1_Missense_Mutation_p.V457M|GLIS3-AS1_uc003zia.3_Non-coding_Transcript	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	524					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		AGGGACTGCACGGTGAGGCAA	0.592													10	63					0	0	1	0	0	T	3898784	C	T	3898784	3	4	38	1	0	0	0	0	1	0	0	0	6447	536	19	1	777	1	GLIS3	9	3898784	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08		3898784	137314647	41	1538											
TAF1L	138474	broad.mit.edu	37	chr9	32631823	32631823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctggttccgcttaagcCgcctcagttgctcttgaatc	5	15	8	13	2	2	1	1	1	1	0	5	1	4	1	4	1	2	4	4	1	2	5			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr9:32631823C>T	uc003zrg.1	-	0	3845	c.3755G>A	c.(3754-3756)cGg>cAg	p.R1252Q	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1252					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity	p.R1252W(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCGCTTAAGCCGCCTCAGTTG	0.448													15	74					0	0	1	0	0	T	32631823	C	T	32631823	3	4	38	1	0	0	0	0	1	0	0	0	15520	652	23	2	1729	2	TAF1L	9	32631823	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	28733039	32631823	108581608	42	1539											
KIAA1045	23349	broad.mit.edu	37	chr9	34971620	34971620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgttcatccgccccaccCggaagctggatgatgacaaa	10	7	10	14	3	1	2	1	2	0	0	2	4	2	4	4	2	2	2	4	2	2	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr9:34971620C>T	uc003zvq.3	+	1	503	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	KIAA1045_uc003zvr.3_Missense_Mutation_p.R109W	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	Homo sapiens KIAA1045 (KIAA1045), mRNA.	109							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			CCGCCCCACCCGGAAGCTGGA	0.602													5	354					0	0	1	0	0	T	34971620	C	T	34971620	3	4	38	1	0	0	0	0	1	0	0	0	8207	643	23	2	327	2	KIAA1045	9	34971620	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	2339797	34971620	106241811	43	1540											
TMC1	117531	broad.mit.edu	37	chr9	75441910	75441910	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtcattttggtgatggTgtatgtgcttttcctcctca	4	19	10	8	0	2	1	2	1	0	0	4	1	4	1	2	2	2	3	2	2	1	5			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr9:75441910T>C	uc004aiz.1	+	21	2669	c.2129_splice	c.e21+1	p.V710_splice	TMC1_uc010moz.1_Splice_Site_p.V668_splice|TMC1_uc004aja.1_Splice_Site|TMC1_uc004ajb.1_Splice_Site|TMC1_uc004ajc.1_Splice_Site_p.V564_splice|TMC1_uc010mpa.1_Splice_Site_p.V564_splice	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	710					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TTGGTGATGGTGTATGTGCTT	0.473													35	230					0	0	1	0	0	C	75441910	T	C	75441910	5	2	38	1	0	0	0	0	0	0	1	0	15981	1710	59	3	2195	3	TMC1	9	75441910	Splice_Site	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08	40470290	75441910	65771521	44	1541											
MRPL50	54534	broad.mit.edu	37	chr9	104160861	104160861	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctggtaatgcccgacacaGatcgcgccgccatcttcgat	8	10	9	14	5	2	1	0	0	2	1	4	3	2	1	3	1	1	1	3	1	1	3			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr9:104160861G>C	uc004bbe.2	-	0	59	c.14C>G	c.(13-15)tCt>tGt	p.S5C	MRPL50_uc011lvj.2_Missense_Mutation_p.S5C|ZNF189_uc022bld.1_5'Flank|ZNF189_uc004bbg.1_5'Flank|ZNF189_uc004bbh.1_5'Flank|ZNF189_uc004bbi.1_5'Flank|ZNF189_uc011lvk.1_5'Flank	NM_019051	NP_061924	Q8N5N7	RM50_HUMAN	Homo sapiens mitochondrial ribosomal protein L50 (MRPL50), nuclear gene encoding mitochondrial protein, mRNA.	5						mitochondrion|ribosome				large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				GCCCGACACAGATCGCGCCGC	0.547													14	97					0	0	1	0	0	C	104160861	G	C	104160861	3	2	38	1	0	0	0	0	1	0	0	0	9814	942	33	5	470	5	MRPL50	9	104160861	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	28718951	104160861	37052570	45	1542											
FUBP3	8939	broad.mit.edu	37	chr9	133470894	133470894	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgctaaaattgattcaattCctcacttgaataattccaca	14	14	3	10	0	2	2	2	2	0	0	4	2	4	2	2	0	1	1	2	0	5	7			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr9:133470894C>A	uc004bzr.1	+	1	217	c.109C>A	c.(109-111)Cct>Act	p.P37T	FUBP3_uc010mzd.1_5'UTR	NM_003934	NP_003925	Q96I24	FUBP3_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 3 (FUBP3), mRNA.	37					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		TGATTCAATTCCTCACTTGAA	0.413													7	75					0.00198382	0.00207399	1	1	0	A	133470894	C	A	133470894	3	1	38	1	0	0	0	0	1	0	0	0	6093	855	30	5	115	5	FUBP3	9	133470894	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	29310033	133470894	7742537	46	1543											
NOTCH1	4851	broad.mit.edu	37	chr9	139404348	139404348	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaaagtgccccggaagcCgggcaggcagtcgcagaagg	12	2	16	11	3	0	2	0	0	0	2	1	3	0	3	3	4	2	3	3	4	3	0			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr9:139404348C>A	uc004chz.3	-	17	2806	c.2806G>T	c.(2806-2808)Ggc>Tgc	p.G936C	NOTCH1_uc004cia.1_Missense_Mutation_p.G166C	NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	936	EGF-like 24.				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCCCGGAAGCCGGGCAGGCAG	0.647			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			70	93					5.96624e-29	6.63985e-29	1	1	0	A	139404348	C	A	139404348	3	1	38	1	0	0	0	0	1	0	0	0	10547	652	23	5	4929	5	NOTCH1	9	139404348	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	5933454	139404348	1809083	47	1544											
KIF20B	9585	broad.mit.edu	37	chr10	91503566	91503566	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tataaacattattttgtaggTatctgtaatgcgtgatgagg	12	16	10	3	1	1	2	0	2	1	0	1	2	1	2	0	2	2	3	0	2	7	8			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr10:91503566T>C	uc001kgs.1	+	22	3988	c.3916_splice	c.e22-1	p.V1306_splice	KIF20B_uc001kgr.1_Splice_Site_p.V1266_splice|KIF20B_uc001kgt.1_Splice_Site_p.V517_splice|KIF20B_uc009xtw.1_Splice_Site	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	1306					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|WW domain binding|microtubule motor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ATTTTGTAGGTATCTGTAATG	0.284													3	38					0	0	1	0	0	C	91503566	T	C	91503566	5	2	38	1	0	0	0	0	0	0	1	0	8287	1652	57	3	3879	3	KIF20B	10	91503566	Splice_Site	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08		91503566	44031181	48	1545											
ABLIM1	3983	broad.mit.edu	37	chr10	116199848	116199848	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgttccatacctggtaaTctgaaaaggaaaggaaaaga	18	8	10	5	0	1	2	0	1	1	1	2	4	2	4	2	3	1	2	2	3	8	3			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr10:116199848T>C	uc021pyx.1	-	20	2159	c.2060_splice	c.e20-1	p.D687_splice	ABLIM1_uc021pyw.1_Intron|ABLIM1_uc021pyy.1_Intron|ABLIM1_uc021pyz.1_Intron|ABLIM1_uc021pza.1_Splice_Site_p.D627_splice|ABLIM1_uc021pyv.1_Intron|ABLIM1_uc021pyu.1_Splice_Site_p.D364_splice	NM_002313	NP_002304	O14639	ABLM1_HUMAN	Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA.	687					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TACCTGGTAATCTGAAAAGGA	0.403													9	13					0	0	1	0	0	C	116199848	T	C	116199848	5	2	38	1	0	0	0	0	0	0	1	0	94	1450	50	3		3	ABLIM1	10	116199848	Splice_Site	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08	24696282	116199848	19334899	49	1546											
NELL1	4745	broad.mit.edu	37	chr11	20907004	20907004	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacaggatttatgagcgtgTgatagaccctccagatacca	12	11	9	9	1	0	4	0	2	0	2	1	5	1	5	3	1	3	0	3	1	4	5			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr11:20907004T>C	uc009yid.3	+	5	758	c.605T>C	c.(604-606)gTg>gCg	p.V202A	NELL1_uc010rdp.2_Intron|NELL1_uc001mqe.3_Missense_Mutation_p.V174A|NELL1_uc001mqf.3_Missense_Mutation_p.V174A|NELL1_uc010rdo.2_Missense_Mutation_p.V117A	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	174	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TATGAGCGTGTGATAGACCCT	0.433													20	32					0	0	1	0	0	C	20907004	T	C	20907004	3	2	38	1	0	0	0	0	1	0	0	0	10333	1696	59	3	539	3	NELL1	11	20907004	Missense_Mutation	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08		20907004	114099512	50	1547											
CD44	960	broad.mit.edu	37	chr11	35198139	35198139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatttgaatataacctgcCgctttgcaggtgtattccac	10	14	8	9	1	0	2	0	1	0	1	1	2	1	2	3	1	3	3	3	1	5	7			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr11:35198139C>T	uc001mvu.3	+	1	519	c.85C>T	c.(85-87)Cgc>Tgc	p.R29C	CD44_uc021qfw.1_Missense_Mutation_p.R29C|CD44_uc001mvv.3_Missense_Mutation_p.R29C|CD44_uc001mvw.3_Missense_Mutation_p.R29C|CD44_uc001mwc.4_Missense_Mutation_p.R29C|CD44_uc001mvx.3_Missense_Mutation_p.R29C|CD44_uc010rer.2_Missense_Mutation_p.R29C|CD44_uc001mvy.3_Missense_Mutation_p.R29C|CD44_uc009ykh.3_Non-coding_Transcript	NM_000610	NP_000601	P16070	CD44_HUMAN	Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA.	29					cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	Golgi apparatus|cell surface|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	TATAACCTGCCGCTTTGCAGG	0.433													19	29					0	0	1	0	0	T	35198139	C	T	35198139	3	4	38	1	0	0	0	0	1	0	0	0	3017	652	23	2	91	2	CD44	11	35198139	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	14291135	35198139	99808377	51	1548											
RTN3	10313	broad.mit.edu	37	chr11	63487943	63487943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagaggacctgatagcaGcctttacagaaaccagagat	14	6	9	12	0	0	4	0	1	0	3	0	6	0	5	5	1	4	1	5	1	3	3			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr11:63487943G>A	uc001nxq.3	+	2	2156	c.1969G>A	c.(1969-1971)Gcc>Acc	p.A657T	RTN3_uc001nxp.3_Intron|RTN3_uc009yov.3_Missense_Mutation_p.A545T|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Intron|RTN3_uc001nxn.3_Missense_Mutation_p.A638T|RTN3_uc001nxo.3_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	657					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CCTGATAGCAGCCTTTACAGA	0.358													5	76					0	0	1	0	0	A	63487943	G	A	63487943	3	1	38	1	0	0	0	0	1	0	0	0	13727	971	34	3	1979	3	RTN3	11	63487943	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	28289804	63487943	71518573	52	1549											
FERMT3	83706	broad.mit.edu	37	chr11	63987951	63987951	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggctggctgccgcctggcctCcaaaggccgcaccatggccg	5	5	14	17	3	0	0	0	0	0	0	1	0	1	0	7	5	1	3	7	5	1	0			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr11:63987951C>T	uc001nyl.2	+	11	1516	c.1367C>T	c.(1366-1368)tCc>tTc	p.S456F	FERMT3_uc001nym.2_Missense_Mutation_p.S452F	NM_178443	NP_848537	Q86UX7	URP2_HUMAN	Homo sapiens fermitin family member 3 (FERMT3), transcript variant URP2LF, mRNA.	456	FERM.|PH.				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CGCCTGGCCTCCAAAGGCCGC	0.682													8	27					0	0	1	0	0	T	63987951	C	T	63987951	3	4	38	1	0	0	0	0	1	0	0	0	5819	855	30	3	1409	3	FERMT3	11	63987951	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	500008	63987951	71018565	53	1550											
PITPNM1	9600	broad.mit.edu	37	chr11	67266176	67266176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggtgacggcctcgaaggCggagctcagcgtctgcacat	7	6	16	12	5	2	1	1	1	1	0	3	3	2	2	1	4	3	2	1	4	1	0	rs151117956	by1000genomes	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr11:67266176C>T	uc001olx.3	-	8	1564	c.1375G>A	c.(1375-1377)Gcc>Acc	p.A459T	PITPNM1_uc001olw.3_5'Flank|PITPNM1_uc001oly.3_Missense_Mutation_p.A459T|PITPNM1_uc001olz.3_Missense_Mutation_p.A459T	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	459					brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	p.S458P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GCCTCGAAGGCGGAGCTCAGC	0.662													56	92					0	0	1	0	0	T	67266176	C	T	67266176	3	4	38	1	0	0	0	0	1	0	0	0	11950	768	27	1	2419	1	PITPNM1	11	67266176	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	3278225	67266176	67740340	54	1551											
INTS4	92105	broad.mit.edu	37	chr11	77672047	77672047	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgggtcttggtcactgaaGtaatcccctataatcttctg	8	14	9	10	1	4	1	1	1	3	0	5	1	5	1	2	2	0	1	2	2	4	5			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr11:77672047G>A	uc001oys.3	-	4	637	c.609C>T	c.(607-609)taC>taT	p.Y203Y	INTS4_uc001oyt.3_Non-coding_Transcript|INTS4_uc001oyu.1_Silent_p.Y203Y	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	Homo sapiens integrator complex subunit 4 (INTS4), mRNA.	203					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			GGTCACTGAAGTAATCCCCTA	0.428													64	128					0	0	1	0	0	A	77672047	G	A	77672047	2	1	38	1	0	0	0	0	0	0	0	1	7780	1024	36	3		3	INTS4	11	77672047	Silent	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	10405871	77672047	57334469	55	1552											
ROBO3	64221	broad.mit.edu	37	chr11	124740574	124740574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaacgtacacctgtgtggCggagaacagtgtgggccgcg	8	6	18	9	4	0	1	0	0	0	1	0	3	0	2	2	4	3	1	2	4	3	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr11:124740574C>T	uc001qbc.3	+	5	1152	c.983C>T	c.(982-984)gCg>gTg	p.A328V		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	328	Ig-like C2-type 3.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		ACCTGTGTGGCGGAGAACAGT	0.602													3	35					0	0	1	0	0	T	124740574	C	T	124740574	3	4	38	1	0	0	0	0	1	0	0	0	13515	768	27	1	1005	1	ROBO3	11	124740574	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	47068527	124740574	10265942	56	1553											
CHD4	1108	broad.mit.edu	37	chr12	6701875	6701875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tacttactggaacctctcggGggtgagaaagttgagcagat	11	10	13	7	1	1	3	0	2	1	2	2	5	1	4	1	3	4	2	1	3	4	3			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr12:6701875G>A	uc001qpo.3	-	17	2925	c.2761C>T	c.(2761-2763)Ccc>Tcc	p.P921S	CHD4_uc001qpn.3_Missense_Mutation_p.P914S|CHD4_uc001qpp.3_Missense_Mutation_p.P918S	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	921	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						AACCTCTCGGGGGTGAGAAAG	0.433													9	84					0	0	1	0	0	A	6701875	G	A	6701875	3	1	38	1	0	0	0	0	1	0	0	0	3327	1232	43	3	3069	3	CHD4	12	6701875	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08		6701875	127150020	57	1554											
NAV3	89795	broad.mit.edu	37	chr12	78513090	78513090	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatctctacaaagatctccTtcagatgcaggaaaaagcag	15	9	7	10	0	4	2	2	0	2	2	6	3	4	3	1	1	3	2	1	1	4	2			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr12:78513090T>G	uc001syp.3	+	14	3287	c.3114T>G	c.(3112-3114)ccT>ccG	p.P1038P	NAV3_uc001syo.3_Silent_p.P1038P|NAV3_uc010sub.2_Silent_p.P538P|NAV3_uc009zsf.3_Silent_p.P46P	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1038	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAAGATCTCCTTCAGATGCAG	0.438										HNSCC(70;0.22)			4	164					0	0	1	0	0	G	78513090	T	G	78513090	2	3	38	1	0	0	0	0	0	0	0	1	10185	1596	56	5		5	NAV3	12	78513090	Silent	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08	71811215	78513090	55338805	58	1555											
GCN1L1	10985	broad.mit.edu	37	chr12	120594273	120594273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcacacacccggagcaCggtttcccgcacgctggcac	8	5	11	17	4	0	1	0	1	0	0	1	2	1	2	2	3	2	6	2	3	0	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr12:120594273C>T	uc001txo.3	-	27	3317	c.3304G>A	c.(3304-3306)Gtg>Atg	p.V1102M	MIR4498_uc021res.1_5'Flank	NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1102					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCCGGAGCACGGTTTCCCGC	0.577													13	60					0	0	1	0	0	T	120594273	C	T	120594273	3	4	38	1	0	0	0	0	1	0	0	0	6299	536	19	1	4835	1	GCN1L1	12	120594273	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	42081183	120594273	13257622	59	1556											
B3GNT4	79369	broad.mit.edu	37	chr12	122691360	122691360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctccagtgggacttcactGaggacttcttcaacctgacg	8	11	9	13	1	3	2	2	2	1	0	5	4	5	4	3	2	1	0	3	2	1	3			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr12:122691360G>A	uc001ubx.3	+	2	780	c.562G>A	c.(562-564)Gag>Aag	p.E188K	B3GNT4_uc001uby.3_Missense_Mutation_p.E163K	NM_030765	NP_110392	Q9C0J1	B3GN4_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4 (B3GNT4), mRNA.	188					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		GGACTTCACTGAGGACTTCTT	0.597													31	58					0	0	1	0	0	A	122691360	G	A	122691360	3	1	38	1	0	0	0	0	1	0	0	0	1259	1291	45	3	568	3	B3GNT4	12	122691360	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	2097087	122691360	11160535	60	1557											
NCOR2	9612	broad.mit.edu	37	chr12	124824906	124824906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatggacttttcccgctcccGatcccggtcccgctctcgat	4	11	9	17	5	1	0	0	0	1	0	6	4	5	1	4	2	0	2	4	2	0	2			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr12:124824906G>A	uc021rga.1	-	35	5560	c.5443C>T	c.(5443-5445)Cgg>Tgg	p.R1815W	NCOR2_uc021rgb.1_Missense_Mutation_p.R1799W|NCOR2_uc010tbb.2_Missense_Mutation_p.R1808W|NCOR2_uc010tbc.2_Missense_Mutation_p.R1798W|NCOR2_uc021rgc.1_Missense_Mutation_p.R1798W|NCOR2_uc010tba.2_Missense_Mutation_p.R1816W|NCOR2_uc010tax.2_5'Flank	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	1816					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCCCGCTCCCGATCCCGGTCC	0.647													25	43					0	0	1	0	0	A	124824906	G	A	124824906	3	1	38	1	0	0	0	0	1	0	0	0	10236	1057	37	2	2170	2	NCOR2	12	124824906	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	2133546	124824906	9026989	61	1558											
GJB6	10804	broad.mit.edu	37	chr13	20797370	20797370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcgctggggtggagaCgaagatcagctggagggccc	9	4	18	10	2	1	2	1	0	0	2	1	5	1	3	1	5	3	3	1	5	1	0			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr13:20797370C>T	uc001und.4	-	2	637	c.250G>A	c.(250-252)Gtc>Atc	p.V84I	GJB6_uc001umz.4_Missense_Mutation_p.V84I|GJB6_uc001unb.4_Missense_Mutation_p.V84I|GJB6_uc001unc.4_Missense_Mutation_p.V84I|GJB6_uc001una.4_Missense_Mutation_p.V84I|GJB6_uc021rhb.1_Missense_Mutation_p.V84I	NM_001110221	NP_006774	O95452	CXB6_HUMAN	Homo sapiens gap junction protein, beta 6, 30kDa (GJB6), transcript variant 4, mRNA.	84					cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		GGGGTGGAGACGAAGATCAGC	0.552													8	43					0	0	1	0	0	T	20797370	C	T	20797370	3	4	38	1	0	0	0	0	1	0	0	0	6412	536	19	1	539	1	GJB6	13	20797370	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08		20797370	94372508	62	1559											
CCNB1IP1	57820	broad.mit.edu	37	chr14	20779890	20779890	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgaacaggtgtattatccAaaggaaacttggagttgtta	13	13	10	5	1	0	0	0	0	0	0	2	3	1	2	1	3	2	3	1	3	6	6			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr14:20779890A>G	uc021rnp.1	-	6	1264	c.653T>C	c.(652-654)tTg>tCg	p.L218S	CCNB1IP1_uc001vwv.3_Missense_Mutation_p.L218S|CCNB1IP1_uc001vwx.3_Missense_Mutation_p.L218S|CCNB1IP1_uc001vwy.3_Missense_Mutation_p.L218S|CCNB1IP1_uc001vwz.3_Missense_Mutation_p.L218S	NM_182852	NP_878272	Q9NPC3	CIP1_HUMAN	Homo sapiens cyclin B1 interacting protein 1, E3 ubiquitin protein ligase (CCNB1IP1), transcript variant 4, mRNA.	218						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		TGTATTATCCAAAGGAAACTT	0.388			T	HMGA2	leiomyoma								37	42					0	0	1	0	0	G	20779890	A	G	20779890	3	3	38	1	0	0	0	0	1	0	0	0	2912	131	5	3	184	3	CCNB1IP1	14	20779890	Missense_Mutation	SNP	A	TCGA-DB-A64L-01A-11D-A29Q-08		20779890	86569650	63	1560											
RNASE8	122665	broad.mit.edu	37	chr14	21526423	21526423	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcaggtacaaagagaagcaCctgaacacaccttacatagt	16	7	8	10	0	0	2	0	1	0	1	0	3	0	2	2	1	5	3	2	1	6	3			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr14:21526423C>G	uc010tlm.2	+	0	372	c.372C>G	c.(370-372)caC>caG	p.H124Q	NDRG2_uc010tll.2_Intron	NM_138331	NP_612204	Q8TDE3	RNAS8_HUMAN	Homo sapiens ribonuclease, RNase A family, 8 (RNASE8), mRNA.	124						extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.K123K(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0188)		AAGAGAAGCACCTGAACACAC	0.537													26	166					0	0	1	0	0	G	21526423	C	G	21526423	3	3	38	1	0	0	0	0	1	0	0	0	13409	506	18	5	374	5	RNASE8	14	21526423	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	746533	21526423	85823117	64	1561											
METTL3	56339	broad.mit.edu	37	chr14	21971990	21971990	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgggctgtcactacggaaGgttggagacaatgctgcctc	9	9	13	10	1	1	1	1	0	0	1	2	3	1	2	1	4	3	3	1	4	3	2			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr14:21971990G>A	uc001wbc.3	-	1	227	c.135C>T	c.(133-135)acC>acT	p.T45T	METTL3_uc001wbb.3_5'Flank|METTL3_uc010tlw.1_Non-coding_Transcript|METTL3_uc010tlx.2_Silent_p.T45T|METTL3_uc021rox.1_Silent_p.T45T|METTL3_uc021roy.1_5'Flank	NM_019852	NP_062826	Q86U44	MTA70_HUMAN	Homo sapiens methyltransferase like 3 (METTL3), mRNA.	45					gene expression	nuclear speck	RNA binding|mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		CACTACGGAAGGTTGGAGACA	0.473													12	101					0	0	1	0	0	A	21971990	G	A	21971990	2	1	38	1	0	0	0	0	0	0	0	1	9501	987	35	3		3	METTL3	14	21971990	Silent	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	445567	21971990	85377550	65	1562											
ADCY4	196883	broad.mit.edu	37	chr14	24791275	24791275	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggggtcaggagtcacctcGttgcgccggttctggccaat	6	9	15	11	3	3	0	2	0	1	0	4	1	3	1	3	5	1	2	3	5	1	2	rs79119787		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr14:24791275G>A	uc001wow.3	-	19	3002	c.2583C>T	c.(2581-2583)aaC>aaT	p.N861N	ADCY4_uc010toh.2_Silent_p.N547N|ADCY4_uc001wox.3_Silent_p.N861N|ADCY4_uc001woy.3_Silent_p.N861N	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	861					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GAGTCACCTCGTTGCGCCGGT	0.587													6	164					0	0	1	0	0	A	24791275	G	A	24791275	2	1	38	1	0	0	0	0	0	0	0	1	296	1136	40	1		1	ADCY4	14	24791275	Silent	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	2819285	24791275	82558265	66	1563											
TRMT5	57570	broad.mit.edu	37	chr14	61446302	61446302	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcgcatcaatttactgactAtttctttcctcactttaagc	10	17	3	11	1	3	1	2	1	1	0	5	1	4	1	1	0	2	1	1	0	4	7			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr14:61446302A>C	uc001xff.4	-	1	405	c.314T>G	c.(313-315)aTa>aGa	p.I105R	SLC38A6_uc001xfg.2_5'Flank|SLC38A6_uc001xfh.2_5'Flank|SLC38A6_uc001xfi.3_5'Flank|SLC38A6_uc001xfj.1_5'Flank|SLC38A6_uc001xfk.3_5'Flank|SLC38A6_uc010trz.2_5'Flank	NM_020810	NP_065861	Q32P41	TRMT5_HUMAN	Homo sapiens TRM5 tRNA methyltransferase 5 homolog (S. cerevisiae) (TRMT5), mRNA.	105						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		TTTACTGACTATTTCTTTCCT	0.408													19	136					0	0	1	0	0	C	61446302	A	C	61446302	3	2	38	1	0	0	0	0	1	0	0	0	16564	449	16	5	1231	5	TRMT5	14	61446302	Missense_Mutation	SNP	A	TCGA-DB-A64L-01A-11D-A29Q-08	36655027	61446302	45903238	67	1564											
TRPM1	4308	broad.mit.edu	37	chr15	31318363	31318363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcagaagtgacccggatgCgctcgtcgctggacgactgc	7	9	13	12	5	1	2	1	1	0	1	3	5	1	4	1	2	2	2	1	2	1	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr15:31318363C>T	uc021sia.1	-	25	3973	c.3659G>A	c.(3658-3660)cGc>cAc	p.R1220H	TRPM1_uc010azy.3_Missense_Mutation_p.R1088H|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.R1203H|TRPM1_uc001zfm.3_Missense_Mutation_p.R1181H	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	1181					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GACCCGGATGCGCTCGTCGCT	0.632													7	61					0	0	1	0	0	T	31318363	C	T	31318363	3	4	38	1	0	0	0	0	1	0	0	0	16582	768	27	1	1277	1	TRPM1	15	31318363	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08		31318363	71213029	68	1565											
CHAC1	79094	broad.mit.edu	37	chr15	41247728	41247728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaaccactgaaggcattggCctatgtggccaccccacaga	11	6	9	15	0	0	2	0	1	0	1	0	2	0	2	6	3	1	1	6	3	3	2			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr15:41247728C>T	uc001znh.2	+	2	571	c.551C>T	c.(550-552)gCc>gTc	p.A184V	CHAC1_uc010uct.1_Intron	NM_024111	NP_077016	Q9BUX1	CHAC1_HUMAN	Homo sapiens ChaC, cation transport regulator homolog 1 (E. coli) (CHAC1), transcript variant 1, mRNA.	184					apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding	p.A183T(1)		endometrium(1)|large_intestine(1)|skin(1)	3		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		AAGGCATTGGCCTATGTGGCC	0.597													22	246					0	0	1	0	0	T	41247728	C	T	41247728	3	4	38	1	0	0	0	0	1	0	0	0	3308	739	26	3	561	3	CHAC1	15	41247728	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	9929365	41247728	61283664	69	1566											
SEMA6D	80031	broad.mit.edu	37	chr15	48063381	48063381	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcaccggcgttctgttgAttccagaaataccctcaatg	11	11	8	11	2	3	3	2	1	1	2	4	3	4	3	3	1	1	2	3	1	3	4			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr15:48063381A>G	uc010bek.3	+	18	2981	c.2621A>G	c.(2620-2622)gAt>gGt	p.D874G	SEMA6D_uc001zvw.3_Missense_Mutation_p.D812G|SEMA6D_uc001zvy.3_Missense_Mutation_p.D874G|SEMA6D_uc001zvz.3_Missense_Mutation_p.D818G|SEMA6D_uc001zwa.3_3'UTR|SEMA6D_uc001zwb.3_Missense_Mutation_p.D812G|SEMA6D_uc001zwc.3_Missense_Mutation_p.D799G	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA.	874					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CGTTCTGTTGATTCCAGAAAT	0.438													9	122					0	0	1	0	0	G	48063381	A	G	48063381	3	3	38	1	0	0	0	0	1	0	0	0	14042	333	12	3	2734	3	SEMA6D	15	48063381	Missense_Mutation	SNP	A	TCGA-DB-A64L-01A-11D-A29Q-08	6815653	48063381	54468011	70	1567											
CA12	771	broad.mit.edu	37	chr15	63637713	63637713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccgctgacggtgtgctcaGagccgtgcgggtcattcggg	4	9	17	11	5	2	2	2	1	0	1	4	2	3	2	2	3	3	2	2	3	0	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr15:63637713G>A	uc002amc.3	-	3	548	c.392C>T	c.(391-393)tCt>tTt	p.S131F	CA12_uc002amd.3_Missense_Mutation_p.S131F|CA12_uc002ame.3_Missense_Mutation_p.S71F	NM_001218	NP_001209	O43570	CAH12_HUMAN	Homo sapiens carbonic anhydrase XII (CA12), transcript variant 1, mRNA.	131					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Acetazolamide(DB00819)	GGTGTGCTCAGAGCCGTGCGG	0.647													19	42					0	0	1	0	0	A	63637713	G	A	63637713	3	1	38	1	0	0	0	0	1	0	0	0	2513	942	33	3	704	3	CA12	15	63637713	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	15574332	63637713	38893679	71	1568											
CYP11A1	1583	broad.mit.edu	37	chr15	74630950	74630950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctctagctcagcgatccGccgtcccagacactgccgca	8	7	8	18	4	2	1	1	0	1	1	5	2	4	1	4	0	3	2	4	0	1	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr15:74630950G>A	uc002axt.2	-	7	1551	c.1396C>T	c.(1396-1398)Cgg>Tgg	p.R466W	CYP11A1_uc002axs.2_Missense_Mutation_p.R308W|CYP11A1_uc010bjm.1_Missense_Mutation_p.R308W|CYP11A1_uc010bjn.1_Non-coding_Transcript	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	466					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	TCAGCGATCCGCCGTCCCAGA	0.557													4	156					0	0	1	0	0	A	74630950	G	A	74630950	3	1	38	1	0	0	0	0	1	0	0	0	4144	1086	38	1	177	1	CYP11A1	15	74630950	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	10993237	74630950	27900442	72	1569											
LRRK1	79705	broad.mit.edu	37	chr15	101598285	101598285	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgtgggaagcagacagccTtcttctcatcccagggccag	8	8	12	13	0	2	1	1	0	2	1	4	2	3	2	3	2	2	2	3	2	1	2			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr15:101598285T>A	uc002bwr.3	+	28	4937	c.4618T>A	c.(4618-4620)Ttc>Atc	p.F1540I	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	1540					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCAGACAGCCTTCTTCTCATC	0.577													4	87					0	0	1	0	0	A	101598285	T	A	101598285	3	1	38	1	0	0	0	0	1	0	0	0	9032	1609	56	5	4728	5	LRRK1	15	101598285	Missense_Mutation	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08	26967335	101598285	933107	73	1570											
ZNF263	10127	broad.mit.edu	37	chr16	3339765	3339765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatctttggtgggaacccacGtttcctgtcactacacagag	10	11	9	11	1	2	1	1	0	1	1	3	2	3	2	2	2	2	1	2	2	3	3	rs149007034		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr16:3339765G>A	uc002cuq.3	+	5	1591	c.1259G>A	c.(1258-1260)cGt>cAt	p.R420H	ZNF263_uc010uww.2_Missense_Mutation_p.R68H|ZNF263_uc002cur.2_Missense_Mutation_p.R68H	NM_005741	NP_005732	O14978	ZN263_HUMAN	Homo sapiens zinc finger protein 263 (ZNF263), mRNA.	420					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						GGGAACCCACGTTTCCTGTCA	0.493													53	93					0	0	1	0	0	A	3339765	G	A	3339765	3	1	38	1	0	0	0	0	1	0	0	0	17800	1145	40	1	1281	1	ZNF263	16	3339765	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08		3339765	87014988	74	1571											
FBRS	64319	broad.mit.edu	37	chr16	30680745	30680745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggagctaactggacccGgggccgtggccgctgcccgc	5	5	17	14	4	0	1	0	1	0	0	0	3	0	3	4	5	3	2	4	5	1	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr16:30680745G>A	uc002dzd.4	+	11	1425	c.1162G>A	c.(1162-1164)Ggg>Agg	p.G388R	FBRS_uc002dzc.4_Missense_Mutation_p.G300R	NM_001105079	NP_001098549	Q9HAH7	FBRS_HUMAN	Homo sapiens fibrosin (FBRS), mRNA.	388	Pro-rich.									ovary(1)	1			Colorectal(24;0.103)			AACTGGACCCGGGGCCGTGGC	0.687													78	98					0	0	1	0	0	A	30680745	G	A	30680745	3	1	38	1	0	0	0	0	1	0	0	0	5707	1116	39	2	1204	2	FBRS	16	30680745	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	27340980	30680745	59674008	75	1572											
CES2	8824	broad.mit.edu	37	chr16	66974478	66974478	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcgagtctgcgggtggcacGagtgtgtcttcgcttgttgt	3	13	17	8	4	2	0	0	0	2	0	3	2	2	0	0	3	1	3	0	3	0	3			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr16:66974478G>A	uc002eqr.3	+	4	1888	c.888G>A	c.(886-888)acG>acA	p.T296T	CES2_uc002eqq.3_Silent_p.T296T|CES2_uc002eqs.3_Silent_p.T139T	NM_003869	NP_003860	O00748	EST2_HUMAN	Homo sapiens carboxylesterase 2 (CES2), transcript variant 1, mRNA.	232					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		CGGGTGGCACGAGTGTGTCTT	0.597													54	78					0	0	1	0	0	A	66974478	G	A	66974478	2	1	38	1	0	0	0	0	0	0	0	1	3270	1045	37	2		2	CES2	16	66974478	Silent	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	36293733	66974478	23380275	76	1573											
KCTD19	146212	broad.mit.edu	37	chr16	67327780	67327781	+	Frame_Shift_Ins	INS	-	-	G																															agtttttgcatgggagtggcINSgggagggtctttggtttcag																										TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr16:67327780_67327781insG	uc002esu.2	-	11	1935_1936	c.1884_1885insC	c.(1882-1887)cccgccfs	p.P628fs	KCTD19_uc002est.2_Frame_Shift_Ins_p.P400fs|KCTD19_uc010vjj.1_Frame_Shift_Ins_p.P371fs	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	628						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		ATGGGAGTGGCGGGAGGGTCTT	0.54													7	334	---	---	---	---						G	67327781	-	G	67327780	7	5	38	1	0	1	1	0	0	0	0	0	8106	768	27	0	915	0	KCTD19	16	67327780	Frame_Shift_Ins	INS	-	TCGA-DB-A64L-01A-11D-A29Q-08	353302	67327780	23026973	77	1574											
IRF8	3394	broad.mit.edu	37	chr16	85952327	85952327	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcgtgttctgcagcggcaaCgccgtggtgtgcaaaggcag	7	7	16	11	5	1	0	0	0	1	0	1	0	1	0	1	3	4	5	1	3	2	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr16:85952327C>T	uc002fjh.3	+	6	963	c.906C>T	c.(904-906)aaC>aaT	p.N302N		NM_002163	NP_002154	Q02556	IRF8_HUMAN	Homo sapiens interferon regulatory factor 8 (IRF8), mRNA.	302					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GCAGCGGCAACGCCGTGGTGT	0.657													8	45					0	0	1	0	0	T	85952327	C	T	85952327	2	4	38	1	0	0	0	0	0	0	0	1	7836	535	19	1		1	IRF8	16	85952327	Silent	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	18624547	85952327	4402426	78	1575											
PRPF8	10594	broad.mit.edu	37	chr17	1578465	1578465	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttatagttgatgacgacgTtgttcttggctgtcatgtag	7	16	11	7	2	2	2	1	2	1	0	2	3	2	2	1	1	0	5	1	1	3	7			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:1578465T>C	uc002fte.3	-	19	3155	c.3041A>G	c.(3040-3042)aAc>aGc	p.N1014S		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1014						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GATGACGACGTTGTTCTTGGC	0.507													17	39					0	0	1	0	0	C	1578465	T	C	1578465	3	2	38	1	0	0	0	0	1	0	0	0	12575	1725	60	3	4062	3	PRPF8	17	1578465	Missense_Mutation	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08		1578465	79616745	79	1576											
RPA1	6117	broad.mit.edu	37	chr17	1798390	1798390	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaaagtggagacctacaacGtaagtaagggcctgggcagc	13	6	13	9	1	1	1	1	0	0	1	1	2	1	1	2	3	3	3	2	3	5	3			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:1798390G>A	uc002fto.2	+	16	1861	c.1746_splice	c.e16+1	p.N582_splice		NM_002945	NP_002936	P27694	RFA1_HUMAN	Homo sapiens replication protein A1, 70kDa (RPA1), mRNA.	582					DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body|actin cytoskeleton|cytoplasm	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						GACCTACAACGTAAGTAAGGG	0.493								Nucleotide excision repair (NER)					40	64					0	0	1	0	0	A	1798390	G	A	1798390	5	1	38	1	0	0	0	0	0	0	1	0	13536	1159	40	1	1809	1	RPA1	17	1798390	Splice_Site	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	219925	1798390	79396820	80	1577											
NLRP1	22861	broad.mit.edu	37	chr17	5437298	5437298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctcagtaggggtcatcaCacttggtttcctggacaaag	9	10	11	11	0	3	0	3	0	0	0	4	1	4	1	2	4	0	2	2	4	2	3			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:5437298C>T	uc002gci.3	-	8	3526	c.2971G>A	c.(2971-2973)Gtg>Atg	p.V991M	NLRP1_uc002gcg.1_Missense_Mutation_p.V991M|NLRP1_uc002gch.4_Missense_Mutation_p.V991M|NLRP1_uc002gck.3_Missense_Mutation_p.V991M|NLRP1_uc002gcj.3_Missense_Mutation_p.V961M|NLRP1_uc002gcl.3_Missense_Mutation_p.V961M|NLRP1_uc010clh.3_Missense_Mutation_p.V991M	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	991					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GGGGTCATCACACTTGGTTTC	0.498													14	303					0	0	1	0	0	T	5437298	C	T	5437298	3	4	38	1	0	0	0	0	1	0	0	0	10471	478	17	3	1561	3	NLRP1	17	5437298	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	3638908	5437298	75757912	81	1578											
MYH4	4622	broad.mit.edu	37	chr17	10368903	10368903	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgacggtgacacagaagaGgcccgagtaggtctgtggga	10	7	17	7	2	1	4	0	2	1	2	1	6	1	5	1	4	0	2	1	4	2	2			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:10368903G>T	uc002gmn.3	-	4	472	c.361C>A	c.(361-363)Ctc>Atc	p.L121I	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	121	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ACACAGAAGAGGCCCGAGTAG	0.552													17	138					1.99824e-07	2.15435e-07	1	1	0	T	10368903	G	T	10368903	3	4	38	1	0	0	0	0	1	0	0	0	10037	1000	35	5	5602	5	MYH4	17	10368903	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	4931605	10368903	70826307	82	1579											
DNAH9	1770	broad.mit.edu	37	chr17	11593161	11593161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagtgcaaacagtttgcccGgcatatccgaaacctggaca	12	7	11	11	2	0	0	0	0	0	0	1	3	1	2	3	3	4	3	3	3	3	2			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:11593161G>A	uc002gne.3	+	19	4090	c.4022G>A	c.(4021-4023)cGg>cAg	p.R1341Q	DNAH9_uc010coo.3_Missense_Mutation_p.R635Q	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1341	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGTTTGCCCGGCATATCCGA	0.562													13	19					0	0	1	0	0	A	11593161	G	A	11593161	3	1	38	1	0	0	0	0	1	0	0	0	4608	1116	39	2	4100	2	DNAH9	17	11593161	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	1224258	11593161	69602049	83	1580											
KSR1	8844	broad.mit.edu	37	chr17	25932758	25932758	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcaagaaagaggtgatgaActaccggcagacgcggcatg	13	6	13	9	3	1	5	1	2	0	3	1	5	1	5	1	3	2	2	1	3	4	2			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:25932758A>G	uc010crg.3	+	14	2010	c.1565A>G	c.(1564-1566)aAc>aGc	p.N522S	KSR1_uc002gzj.1_Non-coding_Transcript|KSR1_uc002gzm.3_Missense_Mutation_p.N302S	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA.	658					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GAGGTGATGAACTACCGGCAG	0.617													4	39					0	0	1	0	0	G	25932758	A	G	25932758	3	3	38	1	0	0	0	0	1	0	0	0	8581	43	2	3	1614	3	KSR1	17	25932758	Missense_Mutation	SNP	A	TCGA-DB-A64L-01A-11D-A29Q-08	14339597	25932758	55262452	84	1581											
CSH2	1443	broad.mit.edu	37	chr17	61949673	61949673	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagtccggcggctgccgTcttccagcctctgcaaagtg	5	8	12	16	3	2	0	0	0	2	0	4	0	4	0	5	2	3	2	5	2	1	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:61949673T>A	uc002jch.3	-	4	582	c.467A>T	c.(466-468)gAc>gTc	p.D156V	CSH2_uc002jci.3_3'UTR|CSH2_uc002jcg.3_Missense_Mutation_p.D61V	NM_020991	NP_066271	P01243	CSH_HUMAN	Homo sapiens chorionic somatomammotropin hormone 2 (CSH2), transcript variant 1, mRNA.	156					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						GCGGCTGCCGTCTTCCAGCCT	0.557													17	146					0	0	1	0	0	A	61949673	T	A	61949673	3	1	38	1	0	0	0	0	1	0	0	0	3941	1667	58	5	190	5	CSH2	17	61949673	Missense_Mutation	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08	36016915	61949673	19245537	85	1582											
CD300E	342510	broad.mit.edu	37	chr17	72613294	72613294	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaccaggtccgagggatcGcgtgaccatgaatccaggac	11	6	12	12	3	0	2	0	2	0	0	3	5	2	4	4	3	1	0	4	3	2	1	rs77873791	by1000genomes	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:72613294G>A	uc002jlb.2	-	1	488	c.351C>T	c.(349-351)cgC>cgT	p.R117R		NM_181449	NP_852114	Q496F6	CLM2_HUMAN	Homo sapiens CD300e molecule (CD300E), mRNA.	117	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity	p.R117H(1)		breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CCGAGGGATCGCGTGACCATG	0.537													5	102					0	0	1	0	0	A	72613294	G	A	72613294	2	1	38	1	0	0	0	0	0	0	0	1	2998	1074	38	1		1	CD300E	17	72613294	Silent	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	10663621	72613294	8581916	86	1583											
MC5R	4161	broad.mit.edu	37	chr18	13826500	13826500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcaccatgctgctgggcGtgtttaccgtgtgctgggcc	3	11	14	13	3	1	0	1	0	0	0	1	0	1	0	4	2	4	4	4	2	1	2			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr18:13826500G>A	uc010xaf.2	+	0	958	c.736G>A	c.(736-738)Gtg>Atg	p.V246M		NM_005913	NP_005904	P33032	MC5R_HUMAN	Homo sapiens melanocortin 5 receptor (MC5R), mRNA.	246					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GCTGCTGGGCGTGTTTACCGT	0.597													9	169					0	0	1	0	0	A	13826500	G	A	13826500	3	1	38	1	0	0	0	0	1	0	0	0	9367	1145	40	1	738	1	MC5R	18	13826500	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08		13826500	64250748	87	1584											
SETBP1	26040	broad.mit.edu	37	chr18	42531834	42531834	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactccccttcacacctgtgCgagattggctccctaaagga	10	9	8	14	1	1	1	1	0	0	1	3	3	3	2	4	2	2	1	4	2	3	3			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr18:42531834C>T	uc010dni.3	+	3	2825	c.2529C>T	c.(2527-2529)tgC>tgT	p.C843C		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	843						nucleus	DNA binding	p.C843C(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CACACCTGTGCGAGATTGGCT	0.552									Schinzel-Giedion syndrome				6	68					0	0	1	0	0	T	42531834	C	T	42531834	2	4	38	1	0	0	0	0	0	0	0	1	14129	776	27	1		1	SETBP1	18	42531834	Silent	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	28705334	42531834	35545414	88	1585											
MBD1	4152	broad.mit.edu	37	chr18	47800597	47800597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgccaacgacacttctggcGcttctggttgctgcccccga	5	9	11	16	4	2	0	0	0	2	0	2	2	2	0	3	2	3	3	3	2	1	3			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr18:47800597G>A	uc002lem.4	-	10	1542	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	MBD1_uc002lef.3_Intron|MBD1_uc002leg.3_Missense_Mutation_p.R319C|MBD1_uc010dow.2_Missense_Mutation_p.R369C|MBD1_uc010xdi.2_Missense_Mutation_p.R420C|MBD1_uc010xdj.2_Intron|MBD1_uc002lel.4_Missense_Mutation_p.R346C|MBD1_uc002len.3_Missense_Mutation_p.R369C|MBD1_uc002leh.4_Intron|MBD1_uc002lei.4_Missense_Mutation_p.R369C|MBD1_uc002lej.4_Intron|MBD1_uc002lek.4_Missense_Mutation_p.R320C|MBD1_uc021ukd.1_Missense_Mutation_p.R394C|MBD1_uc021uke.1_Intron|MBD1_uc010xdk.2_Missense_Mutation_p.R394C|MBD1_uc010dox.1_Missense_Mutation_p.R346C|MBD1_uc002leo.2_Missense_Mutation_p.R369C	NM_001204136	NP_001191065	Q9UIS9	MBD1_HUMAN	Homo sapiens methyl-CpG binding domain protein 1 (MBD1), transcript variant 6, mRNA.	369					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CACTTCTGGCGCTTCTGGTTG	0.662													25	175					0	0	1	0	0	A	47800597	G	A	47800597	3	1	38	1	0	0	0	0	1	0	0	0	9342	1087	38	1	930	1	MBD1	18	47800597	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	5268763	47800597	30276651	89	1586											
MRO	83876	broad.mit.edu	37	chr18	48327796	48327796	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttaacctgactggtgaaaaAttttttccatttcctcccgg	9	15	6	11	1	0	2	0	2	0	0	3	2	3	2	4	2	1	0	4	2	3	5	rs141296827		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr18:48327796A>T	uc010dpa.3	-	4	699	c.550T>A	c.(550-552)Ttt>Att	p.F184I	MRO_uc010xdn.2_Intron|MRO_uc002lew.4_Missense_Mutation_p.F170I|MRO_uc010dpb.3_Intron|MRO_uc010dpc.3_Intron|MRO_uc002lex.4_Missense_Mutation_p.F170I	NM_001127176	NP_001120648	Q9BYG7	MSTRO_HUMAN	Homo sapiens maestro (MRO), transcript variant 4, mRNA.	170						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		CTGGTGAAAAATTTTTTCCAT	0.483													80	101					0	0	1	0	0	T	48327796	A	T	48327796	3	4	38	1	0	0	0	0	1	0	0	0	9772	101	4	5	250	5	MRO	18	48327796	Missense_Mutation	SNP	A	TCGA-DB-A64L-01A-11D-A29Q-08	527199	48327796	29749452	90	1587											
BSG	682	broad.mit.edu	37	chr19	579583	579583	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacagcgccacagaggtcAcagggcaccgctggctgaag	11	4	14	12	2	1	3	1	2	0	1	1	3	1	3	2	3	1	3	2	3	1	0			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:579583A>T	uc002loz.3	+	2	597	c.499A>T	c.(499-501)Aca>Tca	p.T167S	BSG_uc002loy.3_Intron|BSG_uc021ulx.1_5'UTR|BSG_uc002lpa.3_Missense_Mutation_p.T51S|BSG_uc002lpc.3_Missense_Mutation_p.T214S	NM_001728	NP_001719	P35613	BASI_HUMAN	Homo sapiens basigin (Ok blood group) (BSG), transcript variant 1, mRNA.	167	Ig-like C2-type.				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CACAGAGGTCACAGGGCACCG	0.632													8	85					0	0	1	0	0	T	579583	A	T	579583	3	4	38	1	0	0	0	0	1	0	0	0	1529	159	6	5	545	5	BSG	19	579583	Missense_Mutation	SNP	A	TCGA-DB-A64L-01A-11D-A29Q-08		579583	58549400	91	1588											
UQCR11	10975	broad.mit.edu	37	chr19	1605408	1605408	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggaaccgggtcaccaTcgcggcggagtcgcaccctc	7	4	13	17	5	1	0	1	0	0	0	4	2	1	2	4	4	1	1	4	4	1	0			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:1605408T>C	uc002ltm.3	-	0	76	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_006830	NP_006821	O14957	QCR10_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase, complex III subunit XI (UQCR11), nuclear gene encoding mitochondrial protein, mRNA.	1					respiratory electron transport chain	integral to membrane|mitochondrial inner membrane|respiratory chain	electron carrier activity			breast(1)|lung(2)|ovary(1)|prostate(1)	5						CGGGTCACCATCGCGGCGGAG	0.766													4	12					0	0	1	0	0	C	1605408	T	C	1605408	3	2	38	1	0	0	0	0	1	0	0	0	17014	1435	50	3	177	3	UQCR11	19	1605408	Missense_Mutation	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08	1025825	1605408	57523575	92	1589											
MAN2B1	4125	broad.mit.edu	37	chr19	12763077	12763077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgttgtcacctatactggCgttgtacctggagttggggc	5	14	13	9	2	1	0	1	0	0	0	2	1	1	1	2	4	2	4	2	4	3	7	rs148661421		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:12763077C>T	uc002mub.2	-	15	2012	c.1936G>A	c.(1936-1938)Gcc>Acc	p.A646T	MAN2B1_uc010dyv.1_Missense_Mutation_p.A645T	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	646					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCTATACTGGCGTTGTACCTG	0.592													7	105					0	0	1	0	0	T	12763077	C	T	12763077	3	4	38	1	0	0	0	0	1	0	0	0	9216	768	27	1	1135	1	MAN2B1	19	12763077	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	11157669	12763077	46365906	93	1590											
ZNF208	7757	broad.mit.edu	37	chr19	22155989	22155989	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgagaccttactaaaggttTtgccacattcttcacatttg	10	16	6	9	0	2	1	1	1	1	1	2	2	2	1	2	1	2	1	2	1	3	8			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:22155989T>C	uc021urr.1	-	3	1996	c.1847A>G	c.(1846-1848)aAa>aGa	p.K616R	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACTAAAGGTTTTGCCACATTC	0.368													6	60					0	0	1	0	0	C	22155989	T	C	22155989	3	2	38	1	0	0	0	0	1	0	0	0	17763	1841	64	3	1999	3	ZNF208	19	22155989	Missense_Mutation	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08	9392912	22155989	36972994	94	1591											
CIC	23152	broad.mit.edu	37	chr19	42793215	42793218	+	Frame_Shift_Del	DEL	CAGT	CAGT	-																															ctggacggcggagaagtagaCagtcaggcgctacaggaact																										TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:42793215_42793218delCAGT	uc002otf.1	+	6	1147_1150	c.1107_1110delCAGT	c.(1105-1110)gacagtfs	p.D369fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GAGAAGTAGACAGTCAGGCGCTAC	0.667			"Mis, F, S"		oligodendroglioma								69	61	---	---	---	---						-	42793218	CAGT	-	42793215	7	5	38	1	0	1	0	1	0	0	0	0	3424	477	17	0	1133	0	CIC	19	42793215	Frame_Shift_Del	DEL	CAGT	TCGA-DB-A64L-01A-11D-A29Q-08	20637226	42793215	16335768	95	1592											
LMTK3	114783	broad.mit.edu	37	chr19	48994758	48994758	+	Frame_Shift_Del	DEL	G	G	-																															gacgggtccgtgtccccctcGgggggggcctggacgctcag																										TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:48994758delG	uc002pjk.3	-	13	4218	c.4218delC	c.(4216-4218)cccfs	p.P1406fs		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		TGTCCCCCTCGGGGGGGGCCT	0.662													2	4	---	---	---	---						-	48994758	G	-	48994758	7	5	38	1	0	1	0	1	0	0	0	0	8860	1103	39	0	263	0	LMTK3	19	48994758	Frame_Shift_Del	DEL	G	TCGA-DB-A64L-01A-11D-A29Q-08	6201543	48994758	10134225	96	1593											
KLK15	55554	broad.mit.edu	37	chr19	51330971	51330971	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggggagatgagggaagcGccacagttaaagcgtccacg	11	6	16	8	3	0	2	0	1	0	1	1	4	1	3	2	3	2	1	2	3	3	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:51330971G>A	uc002ptl.3	-	1	175	c.144C>T	c.(142-144)ggC>ggT	p.G48G	KLK15_uc002ptm.3_Silent_p.G48G|KLK15_uc002ptn.3_Silent_p.G48G|KLK15_uc002pto.3_Silent_p.G47G|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_Silent_p.G47G|KLK15_uc010eod.3_Non-coding_Transcript	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.	48	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		TGAGGGAAGCGCCACAGTTAA	0.632													3	34					0	0	1	0	0	A	51330971	G	A	51330971	2	1	38	1	0	0	0	0	0	0	0	1	8403	1074	38	1		1	KLK15	19	51330971	Silent	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	2336213	51330971	7798012	97	1594											
NLRP5	126206	broad.mit.edu	37	chr19	56515215	56515215	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttttccagctacgggctgCaatggtgtctctatgagcta	7	13	10	11	1	1	1	0	1	1	0	3	1	2	1	2	2	4	4	2	2	4	5			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:56515215C>A	uc002qmj.3	+	1	196	c.196C>A	c.(196-198)Caa>Aaa	p.Q66K	NLRP5_uc002qmi.3_Missense_Mutation_p.Q66K	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	66	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTACGGGCTGCAATGGTGTCT	0.418													9	56					0.0692343	0.0702525	1	1	0	A	56515215	C	A	56515215	3	1	38	1	0	0	0	0	1	0	0	0	10480	711	25	5	202	5	NLRP5	19	56515215	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	5184244	56515215	2613768	98	1595											
ZBTB45	84878	broad.mit.edu	37	chr19	59028371	59028371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcgcctgggccgccaccttCgccatcctcgccatcggtct	3	9	9	20	5	1	0	0	0	1	0	6	0	2	0	7	2	0	0	7	2	0	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:59028371C>T	uc002qtd.3	-	1	962	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	ZBTB45_uc002qtf.3_Missense_Mutation_p.E224K	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	Homo sapiens zinc finger and BTB domain containing 45 (ZBTB45), mRNA.	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E224V(1)		breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		CCGCCACCTTCGCCATCCTCG	0.662											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	332					0	0	1	0	0	T	59028371	C	T	59028371	3	4	38	1	0	0	0	0	1	0	0	0	17543	893	31	2	873	2	ZBTB45	19	59028371	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	2513156	59028371	100612	99	1596											
SIGLEC1	6614	broad.mit.edu	37	chr20	3674159	3674159	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggggggcccacaccgcagCggtaggaggtggcatccctg	7	4	17	13	2	0	0	0	0	0	0	1	1	1	1	3	7	1	3	3	7	1	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr20:3674159C>A	uc002wja.3	-	12	3443	c.3443G>T	c.(3442-3444)cGc>cTc	p.R1148L	SIGLEC1_uc002wiz.4_Missense_Mutation_p.R1148L|SIGLEC1_uc002wjb.1_5'Flank	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	1148	Ig-like C2-type 11.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	p.Y1147*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CACACCGCAGCGGTAGGAGGT	0.657													3	40					0.115264	0.116105	1	1	0	A	3674159	C	A	3674159	3	1	38	1	0	0	0	0	1	0	0	0	14305	768	27	5	1722	5	SIGLEC1	20	3674159	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08		3674159	59351361	100	1597											
CD93	22918	broad.mit.edu	37	chr20	23065099	23065099	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataaaagcagcttttgcccGtcagtgccatcgttgttttg	9	14	9	9	2	1	0	1	0	0	0	2	0	1	0	2	0	4	4	2	0	3	6			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr20:23065099G>A	uc002wsv.3	-	0	1879	c.1731C>T	c.(1729-1731)gaC>gaT	p.D577D		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	577					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCTTTTGCCCGTCAGTGCCAT	0.617													45	104					0	0	1	0	0	A	23065099	G	A	23065099	2	1	38	1	0	0	0	0	0	0	0	1	3047	1136	40	1		1	CD93	20	23065099	Silent	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	19390940	23065099	39960421	101	1598											
GSS	2937	broad.mit.edu	37	chr20	33533879	33533879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccagtgaggggaagagcGtgaatggggcatagctcacc	11	5	17	8	1	1	3	1	2	0	1	1	5	1	5	2	5	2	2	2	5	3	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr20:33533879G>A	uc002xbg.3	-	2	232	c.152C>T	c.(151-153)aCg>aTg	p.T51M	GSS_uc010zun.2_5'UTR|GSS_uc010zuo.2_Missense_Mutation_p.T51M|GSS_uc010zup.2_Intron|GSS_uc010gez.1_5'UTR	NM_000178	NP_000169	P48637	GSHB_HUMAN	Homo sapiens glutathione synthetase (GSS), mRNA.	51					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GGGGAAGAGCGTGAATGGGGC	0.567													4	169					0	0	1	0	0	A	33533879	G	A	33533879	3	1	38	1	0	0	0	0	1	0	0	0	6829	1145	40	1	1316	1	GSS	20	33533879	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	10468780	33533879	29491641	102	1599											
VSTM2L	128434	broad.mit.edu	37	chr20	36560093	36560093	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgggcgaggacgtggagAtggcctgctccttccgcggc	5	6	18	12	5	0	1	0	0	0	1	2	5	2	3	3	6	1	1	3	6	0	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr20:36560093A>G	uc002xhk.4	+	1	432	c.178A>G	c.(178-180)Atg>Gtg	p.M60V		NM_080607	NP_542174	Q96N03	VTM2L_HUMAN	Homo sapiens V-set and transmembrane domain containing 2 like (VSTM2L), mRNA.	60	Ig-like.									central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				GGACGTGGAGATGGCCTGCTC	0.632													41	210					0	0	1	0	0	G	36560093	A	G	36560093	3	3	38	1	0	0	0	0	1	0	0	0	17227	333	12	3	184	3	VSTM2L	20	36560093	Missense_Mutation	SNP	A	TCGA-DB-A64L-01A-11D-A29Q-08	3026214	36560093	26465427	103	1600											
KCNJ15	3772	broad.mit.edu	37	chr21	39671497	39671497	+	Frame_Shift_Del	DEL	C	C	-																															tgagcccatttcaaatcataCcccctgcatcatgaaagtgg																								rs148451839	byFrequency	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr21:39671497delC	uc021wjc.1	+	0	314	c.314delC	c.(313-315)accfs	p.T105fs	KCNJ15_uc002ywv.3_Frame_Shift_Del_p.T105fs|KCNJ15_uc002yww.3_Frame_Shift_Del_p.T105fs|KCNJ15_uc002ywx.3_Frame_Shift_Del_p.T105fs	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	105					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						TCAAATCATACCCCCTGCATC	0.488													15	135	---	---	---	---						-	39671497	C	-	39671497	7	5	38	1	0	1	0	1	0	0	0	0	8049	507	18	0	316	0	KCNJ15	21	39671497	Frame_Shift_Del	DEL	C	TCGA-DB-A64L-01A-11D-A29Q-08		39671497	8458398	104	1601											
FTCD	10841	broad.mit.edu	37	chr21	47571515	47571515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgcaggttgagcgcgatgCggtgggcttgctcctttgtg	3	11	16	11	4	0	1	0	1	0	0	1	2	1	1	2	3	3	4	2	3	0	3	rs142358848		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr21:47571515C>T	uc002zig.3	-	4	637	c.593G>A	c.(592-594)cGc>cAc	p.R198H	FTCD_uc002zif.3_Missense_Mutation_p.R198H|FTCD_uc002zih.3_Missense_Mutation_p.R198H|FTCD_uc010gqf.3_Missense_Mutation_p.R198H|FTCD_uc010gqg.1_Missense_Mutation_p.R67H			O95954	FTCD_HUMAN	Homo sapiens formiminotransferase cyclodeaminase (FTCD), transcript variant B, mRNA.	198	Formiminotransferase C-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	Golgi apparatus|centriole|cytosol	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GAGCGCGATGCGGTGGGCTTG	0.642													4	129					0	0	1	0	0	T	47571515	C	T	47571515	3	4	38	1	0	0	0	0	1	0	0	0	6081	768	27	1	1072	1	FTCD	21	47571515	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	7900018	47571515	558380	105	1602											
SHROOM2	357	broad.mit.edu	37	chrX	9900279	9900279	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcacccaccgagtcagaagGcaccgaacccacccacattc	13	3	7	18	2	1	1	1	0	0	1	2	3	1	1	5	1	2	2	5	1	2	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:9900279G>C	uc004csu.1	+	5	3046	c.2956G>C	c.(2956-2958)Gca>Cca	p.A986P	SHROOM2_uc004csv.2_5'UTR|SHROOM2_uc011mic.1_5'UTR|SHROOM2_uc004csw.1_5'UTR	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	986					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GAGTCAGAAGGCACCGAACCC	0.587													8	168					0	0	1	0	0	C	9900279	G	C	9900279	3	2	38	1	0	0	0	0	1	0	0	0	14294	1203	42	5	2978	5	SHROOM2	23	9900279	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08		9900279	145370281	106	1603											
GPM6B	2824	broad.mit.edu	37	chrX	13795537	13795537	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggggaaagcattccaaggAatgatacctgtaaaatgaac	16	7	10	8	1	0	2	0	2	0	0	1	4	1	4	3	3	3	2	3	3	7	3			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:13795537A>G	uc004cvw.3	-	5	996	c.705T>C	c.(703-705)atT>atC	p.I235I	GPM6B_uc004cvx.3_Silent_p.I176I|GPM6B_uc011min.1_Silent_p.I109I|GPM6B_uc004cwa.2_Silent_p.I176I|GPM6B_uc011mim.2_Silent_p.I209I|GPM6B_uc004cvy.2_Silent_p.I235I|GPM6B_uc004cvz.2_Silent_p.I195I	NM_001001995	NP_001001995	Q13491	GPM6B_HUMAN	Homo sapiens glycoprotein M6B (GPM6B), transcript variant 1, mRNA.	195					cell differentiation|nervous system development	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						CATTCCAAGGAATGATACCTG	0.438													3	37					0	0	1	0	0	G	13795537	A	G	13795537	2	3	38	1	0	0	0	0	0	0	0	1	6616	242	9	3		3	GPM6B	23	13795537	Silent	SNP	A	TCGA-DB-A64L-01A-11D-A29Q-08	3895258	13795537	141475023	107	1604											
REPS2	9185	broad.mit.edu	37	chrX	17065569	17065569	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtactatgtcaatcagttcCgatcccttcagccagaccca	11	10	6	14	1	3	1	3	0	0	1	5	2	5	1	4	0	2	2	4	0	3	4			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:17065569C>T	uc004cxv.1	+	5	1042	c.871C>T	c.(871-873)Cga>Tga	p.R291*	REPS2_uc004cxw.1_Nonsense_Mutation_p.R290*|REPS2_uc011miw.1_Nonsense_Mutation_p.R150*	NM_004726	NP_004717	Q8NFH8	REPS2_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 2 (REPS2), transcript variant 1, mRNA.	291	EH 2.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					CAATCAGTTCCGATCCCTTCA	0.488													72	137					0	0	1	0	0	T	17065569	C	T	17065569	4	4	38	1	0	0	0	0	0	1	0	0	13229	644	23	2	893	2	REPS2	23	17065569	Nonsense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	3270032	17065569	138204991	108	1605											
NHS	4810	broad.mit.edu	37	chrX	17394316	17394316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcggacgtggcccggcacGcttgcagcctcttccaggag	5	8	13	15	4	2	0	0	0	2	0	4	2	3	2	3	4	2	3	3	4	0	2			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:17394316G>A	uc011mix.2	+	0	774	c.436G>A	c.(436-438)Gct>Act	p.A146T	NHS_uc004cxx.3_Missense_Mutation_p.A146T	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	146						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GGCCCGGCACGCTTGCAGCCT	0.726													10	13					0	0	1	0	0	A	17394316	G	A	17394316	3	1	38	1	0	0	0	0	1	0	0	0	10411	1087	38	1	438	1	NHS	23	17394316	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	328747	17394316	137876244	109	1606											
FAM47A	158724	broad.mit.edu	37	chrX	34150160	34150160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacctctgagagatattttgGggagtaaaaactcgtcacgg	12	10	12	7	2	2	2	1	1	1	1	3	5	2	3	1	3	1	1	1	3	4	4			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:34150160G>A	uc004ddg.3	-	0	288	c.236C>T	c.(235-237)cCc>cTc	p.P79L		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	79								p.L78L(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGATATTTTGGGGAGTAAAAA	0.532													45	100					0	0	1	0	0	A	34150160	G	A	34150160	3	1	38	1	0	0	0	0	1	0	0	0	5569	1232	43	3	2143	3	FAM47A	23	34150160	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	16755844	34150160	121120400	110	1607											
USP9X	8239	broad.mit.edu	37	chrX	41075260	41075260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgtgcaatcaagttcaatGattattttgaatttcctcga	13	16	6	6	1	2	2	2	2	0	0	4	3	3	2	1	0	1	2	1	0	6	5			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:41075260G>A	uc004dfb.3	+	34	6073	c.5440G>A	c.(5440-5442)Gat>Aat	p.D1814N	USP9X_uc004dfc.3_Missense_Mutation_p.D1814N	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1814					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CAAGTTCAATGATTATTTTGA	0.408													16	91					0	0	1	0	0	A	41075260	G	A	41075260	3	1	38	1	0	0	0	0	1	0	0	0	17087	1290	45	3	5574	3	USP9X	23	41075260	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	6925100	41075260	114195300	111	1608											
AKAP4	8852	broad.mit.edu	37	chrX	49957836	49957836	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatgagtttccttgcttttGgttccagatggttaggccct	5	16	11	9	0	0	2	0	1	0	1	2	2	2	2	3	3	1	5	3	3	1	6			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:49957836G>T	uc004dow.1	-	4	1652	c.1528C>A	c.(1528-1530)Caa>Aaa	p.Q510K	AKAP4_uc004dou.1_Missense_Mutation_p.Q501K|AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.Q332K	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	510					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CCTTGCTTTTGGTTCCAGATG	0.453													7	147					0.00307968	0.00319546	1	1	0	T	49957836	G	T	49957836	3	4	38	1	0	0	0	0	1	0	0	0	453	1357	47	5	1044	5	AKAP4	23	49957836	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	8882576	49957836	105312724	112	1609											
MORC4	79710	broad.mit.edu	37	chrX	106224616	106224616	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtagctcagaggtaacacCgccagtcattttttcttctg	8	14	9	10	1	4	1	2	0	2	1	4	1	4	1	2	2	2	3	2	2	2	6			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:106224616C>A	uc004emu.4	-	5	1041	c.766G>T	c.(766-768)Ggt>Tgt	p.G256C	MORC4_uc004emp.4_Intron|MORC4_uc004emv.4_Missense_Mutation_p.G256C|MORC4_uc004emw.4_Missense_Mutation_p.G4C	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	Homo sapiens MORC family CW-type zinc finger 4 (MORC4), transcript variant 1, mRNA.	256							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GAGGTAACACCGCCAGTCATT	0.353													12	117					1.08611e-07	1.18018e-07	1	1	0	A	106224616	C	A	106224616	3	1	38	1	0	0	0	0	1	0	0	0	9704	652	23	5	2095	5	MORC4	23	106224616	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	56266780	106224616	49045944	113	1610											
IRS4	8471	broad.mit.edu	37	chrX	107978515	107978515	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcctcctagcggacagcaGggttaacaggtgggcgccga	8	6	16	11	3	0	0	0	0	0	0	1	2	1	1	3	4	4	2	3	4	2	2			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:107978515G>T	uc004eoc.2	-	0	1093	c.1060C>A	c.(1060-1062)Ctg>Atg	p.L354M		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	354						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GCGGACAGCAGGGTTAACAGG	0.612													5	415					0.014758	0.0150859	1	1	0	T	107978515	G	T	107978515	3	4	38	1	0	0	0	0	1	0	0	0	7842	991	35	5	2717	5	IRS4	23	107978515	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	1753899	107978515	47292045	114	1611											
PNMA3	29944	broad.mit.edu	37	chrX	152226308	152226308	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcctgaaacgagtcttaaGtggggccacccttcctgaca	9	9	10	13	2	1	2	0	2	1	0	3	3	2	2	4	2	1	0	4	2	2	2			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:152226308G>T	uc022cho.1	+	0	896	c.896G>T	c.(895-897)aGt>aTt	p.S299I	PNMA3_uc004fhc.2_Missense_Mutation_p.S299I|PNMA3_uc004fhd.3_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	Homo sapiens paraneoplastic antigen MA3 (PNMA3), mRNA.	299					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					cgagtcttaagtggggccacc	0.502													12	77					2.27111e-07	2.42956e-07	1	1	0	T	152226308	G	T	152226308	3	4	38	1	0	0	0	0	1	0	0	0	12155	1029	36	5	898	5	PNMA3	23	152226308	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	44247793	152226308	3044252	115	1612											
NEGR1	257194	broad.mit.edu	37	chr1	72748064	72748065	+	Frame_Shift_Del	DEL	CA	CA	-																															acggccgcccaggggaagtcCacactctgtccagccgggag																										TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr1:72748064_72748065delCA	uc001dfw.3	-	0	341_342	c.113_114delTG	c.(112-114)gtgfs	p.V38fs	NEGR1_uc010oqs.2_Frame_Shift_Del_p.V38fs	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	Homo sapiens neuronal growth regulator 1 (NEGR1), mRNA.	38	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		AGGGGAAGTCCACACTCTGTCC	0.614													27	91	---	---	---	---						-	72748065	CA	-	72748064	7	5	39	1	0	1	0	1	0	0	0	0	10317	581	21	0	978	0	NEGR1	1	72748064	Frame_Shift_Del	DEL	CA	TCGA-DB-A64O-01A-11D-A29Q-08		72748064	176502557	1	1613											
NLRP3	114548	broad.mit.edu	37	chr1	247587695	247587695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgacgagcacataggacCgctctgcactgactggcaga	10	8	11	12	2	1	3	0	2	1	1	1	5	1	4	1	2	2	4	1	2	1	2			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr1:247587695C>T	uc001icr.3	+	4	1088	c.950C>T	c.(949-951)cCg>cTg	p.P317L	NLRP3_uc001ics.3_Missense_Mutation_p.P317L|NLRP3_uc001icu.3_Missense_Mutation_p.P317L|NLRP3_uc001icw.3_Missense_Mutation_p.P317L|NLRP3_uc001icv.3_Missense_Mutation_p.P317L|NLRP3_uc010pyw.2_Missense_Mutation_p.P315L|NLRP3_uc001ict.1_Missense_Mutation_p.P315L	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	317	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.P317P(1)|p.G316V(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CACATAGGACCGCTCTGCACT	0.567													39	110					0	0	1	0	0	T	247587695	C	T	247587695	3	4	39	1	0	0	0	0	1	0	0	0	10478	652	23	2	960	2	NLRP3	1	247587695	Missense_Mutation	SNP	C	TCGA-DB-A64O-01A-11D-A29Q-08	174839631	247587695	1662926	2	1614											
BIRC6	57448	broad.mit.edu	37	chr2	32724735	32724735	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgccgtgatagaatcggttAcatttttagtgcaccactat	10	14	8	9	2	0	2	0	1	0	1	1	2	0	2	2	1	3	2	2	1	5	6			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr2:32724735A>T	uc010ezu.3	+	45	8724	c.8590A>T	c.(8590-8592)Aca>Tca	p.T2864S		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	2864					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGAATCGGTTACATTTTTAGT	0.443													9	183					0	0	1	0	0	T	32724735	A	T	32724735	3	4	39	1	0	0	0	0	1	0	0	0	1438	391	14	5	8772	5	BIRC6	2	32724735	Missense_Mutation	SNP	A	TCGA-DB-A64O-01A-11D-A29Q-08		32724735	210474638	3	1615											
FANCD2	2177	broad.mit.edu	37	chr3	10085520	10085520	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgttttttcaggcaattgAaaacactgcctcagtatctg	10	14	7	10	0	3	1	2	1	1	0	3	1	3	1	2	1	2	3	2	1	4	5			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr3:10085520A>G	uc003buw.3	+	13	1184	c.1106A>G	c.(1105-1107)gAa>gGa	p.E369G	FANCD2_uc003bux.1_Missense_Mutation_p.E369G|FANCD2_uc003buy.1_Missense_Mutation_p.E369G	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	369					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CAGGCAATTGAAAACACTGCC	0.388			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	17					0	0	1	0	0	G	10085520	A	G	10085520	3	3	39	1	0	0	0	0	1	0	0	0	5665	246	9	3	1156	3	FANCD2	3	10085520	Missense_Mutation	SNP	A	TCGA-DB-A64O-01A-11D-A29Q-08		10085520	187936910	4	1616											
CPN2	1370	broad.mit.edu	37	chr3	194062520	194062520	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgggcaaaggtgccctcagcGacagtctccagctggttatg	8	9	13	11	1	2	0	1	0	1	0	3	1	2	0	2	3	3	3	2	3	2	1			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr3:194062520G>C	uc003fts.3	-	1	1002	c.912C>G	c.(910-912)gtC>gtG	p.V304V	CPN2_uc021xix.1_Silent_p.V304V	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	304					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		TGCCCTCAGCGACAGTCTCCA	0.602													18	72					0	0	1	0	0	C	194062520	G	C	194062520	2	2	39	1	0	0	0	0	0	0	0	1	3810	1045	37	5		5	CPN2	3	194062520	Silent	SNP	G	TCGA-DB-A64O-01A-11D-A29Q-08	183977000	194062520	3959910	5	1617											
SLC12A2	6558	broad.mit.edu	37	chr5	127448571	127448571	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accagagatgctgtggtcacGtatactgcagaaagtaaagg	14	8	12	7	1	1	2	1	0	0	2	1	3	1	2	1	2	3	4	1	2	5	3			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr5:127448571G>A	uc003kus.3	+	1	986	c.822G>A	c.(820-822)acG>acA	p.T274T	SLC12A2_uc010jdf.3_Non-coding_Transcript|SLC12A2_uc010jdg.3_Silent_p.T274T	NM_001046	NP_001037	P55011	S12A2_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 2 (SLC12A2), transcript variant 1, mRNA.	274					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGTGGTCACGTATACTGCAG	0.368													4	90					0	0	1	0	0	A	127448571	G	A	127448571	2	1	39	1	0	0	0	0	0	0	0	1	14383	1132	40	1		1	SLC12A2	5	127448571	Silent	SNP	G	TCGA-DB-A64O-01A-11D-A29Q-08		127448571	53466689	6	1618											
GABRB2	2561	broad.mit.edu	37	chr5	160721230	160721230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggcgcgtctcctcaggCgacttttcttttgcgccaca	5	11	12	13	4	3	0	1	0	2	0	4	2	3	1	2	3	1	0	2	3	0	4			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr5:160721230C>T	uc003lys.1	-	10	1615	c.1397G>A	c.(1396-1398)cGc>cAc	p.R466H	GABRB2_uc011deh.1_Missense_Mutation_p.R267H|GABRB2_uc003lyr.1_Missense_Mutation_p.R428H|GABRB2_uc003lyt.1_Missense_Mutation_p.R428H	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	466					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCTCCTCAGGCGACTTTTCTT	0.517													22	77					0	0	1	0	0	T	160721230	C	T	160721230	3	4	39	1	0	0	0	0	1	0	0	0	6167	768	27	1	145	1	GABRB2	5	160721230	Missense_Mutation	SNP	C	TCGA-DB-A64O-01A-11D-A29Q-08	33272659	160721230	20194030	7	1619											
TULP1	7287	broad.mit.edu	37	chr6	35474051	35474051	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccggcaggacaactcacCgctttctgtgtgcggagaga	9	7	13	12	3	2	1	1	0	1	1	2	4	2	3	2	3	3	2	2	3	1	1			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr6:35474051C>T	uc003okv.4	-	9	840	c.828_splice	c.e9+1	p.A276_splice	TULP1_uc003okw.4_Splice_Site_p.A223_splice|TULP1_uc021yyx.1_Splice_Site_p.A276_splice|TULP1_uc021yyy.1_Splice_Site_p.A276_splice	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	276					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GACAACTCACCGCTTTCTGTG	0.687													5	7					0	0	1	0	0	T	35474051	C	T	35474051	5	4	39	1	0	0	0	0	0	0	1	0	16770	666	23	2	828	2	TULP1	6	35474051	Splice_Site	SNP	C	TCGA-DB-A64O-01A-11D-A29Q-08		35474051	135641016	8	1620											
PHF3	23469	broad.mit.edu	37	chr6	64422286	64422286	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacagcttcaggaagatcAagagaataatttgcaagata	19	8	9	5	0	2	4	2	0	0	4	2	6	2	5	0	1	2	2	0	1	7	4			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr6:64422286A>G	uc003pep.1	+	14	4827	c.4802A>G	c.(4801-4803)cAa>cGa	p.Q1601R	PHF3_uc003pen.2_Missense_Mutation_p.Q1513R|PHF3_uc011dxs.1_Missense_Mutation_p.Q870R	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	1601					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CAGGAAGATCAAGAGAATAAT	0.333													16	33					0	0	1	0	0	G	64422286	A	G	64422286	3	3	39	1	0	0	0	0	1	0	0	0	11836	130	5	3	4860	3	PHF3	6	64422286	Missense_Mutation	SNP	A	TCGA-DB-A64O-01A-11D-A29Q-08	28948235	64422286	106692781	9	1621											
PEG10	23089	broad.mit.edu	37	chr7	94293706	94293706	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggtgggaggtgcccgcatgCgcctgacgcaggaagaaaaa	11	4	16	10	4	0	2	0	1	0	1	0	4	0	4	2	4	2	2	2	4	3	0			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr7:94293706C>T	uc003uno.3	+	1	1317	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C	PEG10_uc011kie.2_Missense_Mutation_p.R356C|PEG10_uc022ahn.1_Missense_Mutation_p.R280C	NM_015068	NP_055883	Q86TG7	PEG10_HUMAN	Homo sapiens paternally expressed 10 (PEG10), transcript variant 1, mRNA.	280					apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TGCCCGCATGCGCCTGACGCA	0.602													3	25					0	0	1	0	0	T	94293706	C	T	94293706	3	4	39	1	0	0	0	0	1	0	0	0	11719	768	27	1	1072	1	PEG10	7	94293706	Missense_Mutation	SNP	C	TCGA-DB-A64O-01A-11D-A29Q-08		94293706	64844957	10	1622											
GRIN1	2902	broad.mit.edu	37	chr9	140061869	140061869	+	Frame_Shift_Del	DEL	G	G	-																															gttcttatttatagagcaccGggggtggacgcggcgctttg																										TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr9:140061869delG	uc004clk.3	+	19	3037	c.2707delG	c.(2707-2709)gggfs	p.G903fs	GRIN1_uc004cln.3_Intron|GRIN1_uc004clo.3_Intron|GRIN1_uc004clm.3_Intron|GRIN1_uc004cll.3_Frame_Shift_Del_p.G866fs	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 1 (GRIN1), transcript variant NR1-3, mRNA.	903					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	ATAGAGCACCGGGGGTGGACG	0.647													2	4	---	---	---	---						-	140061869	G	-	140061869	7	5	39	1	0	1	0	1	0	0	0	0	6778	1116	39	0	2852	0	GRIN1	9	140061869	Frame_Shift_Del	DEL	G	TCGA-DB-A64O-01A-11D-A29Q-08		140061869	1151562	11	1623											
HPS6	79803	broad.mit.edu	37	chr10	103827403	103827403	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccaaccccattccctgaGcctggagcagagccccctct	7	6	7	21	0	1	2	0	1	1	1	2	3	2	3	8	1	4	1	8	1	1	1			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr10:103827403G>T	uc001kuj.3	+	0	2280	c.2172G>T	c.(2170-2172)gaG>gaT	p.E724D		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA.	724						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		CATTCCCTGAGCCTGGAGCAG	0.617									Hermansky-Pudlak syndrome				32	46					2.85442e-18	2.92953e-18	1	1	0	T	103827403	G	T	103827403	3	4	39	1	0	0	0	0	1	0	0	0	7343	962	34	5	2174	5	HPS6	10	103827403	Missense_Mutation	SNP	G	TCGA-DB-A64O-01A-11D-A29Q-08		103827403	31707344	12	1624											
AMOTL1	154810	broad.mit.edu	37	chr11	94554782	94554782	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgccagcgggccactgcActctgtctccctgccgcttc	3	10	9	19	3	2	0	0	0	2	0	5	0	3	0	5	1	3	2	5	1	0	2			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr11:94554782A>G	uc001pfb.3	+	3	1378	c.1208A>G	c.(1207-1209)cAc>cGc	p.H403R	AMOTL1_uc001pfc.3_Missense_Mutation_p.H353R	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	Homo sapiens angiomotin like 1 (AMOTL1), mRNA.	403						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GGGCCACTGCACTCTGTCTCC	0.667													10	28					0	0	1	0	0	G	94554782	A	G	94554782	3	3	39	1	0	0	0	0	1	0	0	0	583	159	6	3	1222	3	AMOTL1	11	94554782	Missense_Mutation	SNP	A	TCGA-DB-A64O-01A-11D-A29Q-08		94554782	40451734	13	1625											
TMEM133	83935	broad.mit.edu	37	chr11	100863216	100863216	+	Frame_Shift_Del	DEL	C	C	-																															tttttgttaccttccaaaatCaagacacttttaagaaacaa																										TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr11:100863216delC	uc001pgf.3	+	0	406	c.177delC	c.(175-177)atcfs	p.I59fs		NM_032021	NP_114410	Q9H2Q1	TM133_HUMAN	Homo sapiens transmembrane protein 133 (TMEM133), mRNA.	59						integral to membrane				kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)		BRCA - Breast invasive adenocarcinoma(274;0.0675)		CTTCCAAAATCAAGACACTTT	0.388													26	104	---	---	---	---						-	100863216	C	-	100863216	7	5	39	1	0	1	0	1	0	0	0	0	16046	816	29	0	179	0	TMEM133	11	100863216	Frame_Shift_Del	DEL	C	TCGA-DB-A64O-01A-11D-A29Q-08	6308434	100863216	34143300	14	1626											
ABR	29	broad.mit.edu	37	chr17	1028592	1028592	+	Missense_Mutation	SNP	G	G	C																															gctgcgggcgctgagctgcgGggacatggtgggcgactcat																										TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:1028592G>C	uc002fsd.3	-	1	282	c.172C>G	c.(172-174)Ccg>Gcg	p.P58A	ABR_uc002fse.3_Missense_Mutation_p.P12A|ABR_uc010cjq.1_Missense_Mutation_p.P70A	NM_021962	NP_001153218	Q12979	ABR_HUMAN	Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.	58					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CTGAGCTGCGGGGACATGGTG	0.672													43	143					0	0	1	0	0	C	1028592	G	C	1028592	3	2	39	1	0	0	0	0	1	0	0	0	99	1232	43	5	2634	5	ABR	17	1028592	Missense_Mutation	SNP	G	TCGA-DB-A64O-01A-11D-A29Q-08		1028592	80166618	15	1627	5	3									
ABR	29	broad.mit.edu	37	chr17	1028596	1028596	+	Missense_Mutation	SNP	C	C	A																															cgggcgctgagctgcggggaCatggtgggcgactcatcgat																										TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:1028596C>A	uc002fsd.3	-	1	278	c.168G>T	c.(166-168)atG>atT	p.M56I	ABR_uc002fse.3_Missense_Mutation_p.M10I|ABR_uc010cjq.1_Missense_Mutation_p.M68I	NM_021962	NP_001153218	Q12979	ABR_HUMAN	Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.	56					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GCTGCGGGGACATGGTGGGCG	0.667													46	148					1.86633e-21	1.96722e-21	1	1	0	A	1028596	C	A	1028596	3	1	39	1	0	0	0	0	1	0	0	0	99	478	17	5	2638	5	ABR	17	1028596	Missense_Mutation	SNP	C	TCGA-DB-A64O-01A-11D-A29Q-08	4	1028596	80166614	16	1628	5	3									
ABR	29	broad.mit.edu	37	chr17	1028598	1028598	+	Missense_Mutation	SNP	T	T	A																															ggcgctgagctgcggggacaTggtgggcgactcatcgatgt																										TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:1028598T>A	uc002fsd.3	-	1	276	c.166A>T	c.(166-168)Atg>Ttg	p.M56L	ABR_uc002fse.3_Missense_Mutation_p.M10L|ABR_uc010cjq.1_Missense_Mutation_p.M68L	NM_021962	NP_001153218	Q12979	ABR_HUMAN	Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.	56					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TGCGGGGACATGGTGGGCGAC	0.672													45	153					0	0	1	0	0	A	1028598	T	A	1028598	3	1	39	1	0	0	0	0	1	0	0	0	99	1464	51	5	2640	5	ABR	17	1028598	Missense_Mutation	SNP	T	TCGA-DB-A64O-01A-11D-A29Q-08	2	1028598	80166612	17	1629	5	3									
MYH4	4622	broad.mit.edu	37	chr17	10348604	10348604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcattgcgggcttcctggaCgatgtcctccatctctccct	4	13	9	15	2	1	0	0	0	1	0	6	2	5	1	4	2	2	2	4	2	0	2	rs144889690	byFrequency	TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:10348604C>T	uc002gmn.3	-	35	5356	c.5245G>A	c.(5245-5247)Gtc>Atc	p.V1749I	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1749					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTTCCTGGACGATGTCCTCC	0.468													50	95					0	0	1	0	0	T	10348604	C	T	10348604	3	4	39	1	0	0	0	0	1	0	0	0	10037	536	19	1	594	1	MYH4	17	10348604	Missense_Mutation	SNP	C	TCGA-DB-A64O-01A-11D-A29Q-08	9320006	10348604	70846606	18	1630											
MYH2	4620	broad.mit.edu	37	chr17	10436665	10436665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctgcacctggcctgggttCgggtaatcagctgggccagc	5	9	14	13	1	2	0	1	0	1	0	3	0	2	0	3	4	3	4	3	4	1	2			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:10436665C>T	uc010coi.3	-	20	2506	c.2378G>A	c.(2377-2379)cGa>cAa	p.R793Q	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R793Q|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	793	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GGCCTGGGTTCGGGTAATCAG	0.473													19	59					0	0	1	0	0	T	10436665	C	T	10436665	3	4	39	1	0	0	0	0	1	0	0	0	10035	884	31	2	3527	2	MYH2	17	10436665	Missense_Mutation	SNP	C	TCGA-DB-A64O-01A-11D-A29Q-08	88061	10436665	70758545	19	1631											
MED9	55090	broad.mit.edu	37	chr17	17394705	17394707	+	In_Frame_Del	DEL	CAG	CAG	-																															gcatccacctgagccccgaaCagcagcagcagcagctgcag																										TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:17394705_17394707delCAG	uc002grh.1	+	1	393_395	c.337_339delCAG	c.(337-339)cagdel	p.Q117del		NM_018019	NP_060489	Q9NWA0	MED9_HUMAN	Homo sapiens mediator complex subunit 9 (MED9), mRNA.	117					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGCCCCGAACAGCAGCAGCAGC	0.581													7	230	---	---	---	---						-	17394707	CAG	-	17394705	7	5	39	1	0	1	0	1	0	0	0	0	9454	479	17	0	343	0	MED9	17	17394705	In_Frame_Del	DEL	CAG	TCGA-DB-A64O-01A-11D-A29Q-08	6958040	17394705	63800505	20	1632											
NF1	4763	broad.mit.edu	37	chr17	29552216	29552216	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtccatggatcatgaagaatTactacgtactcctggagcct	11	11	9	10	1	1	2	1	1	0	1	3	4	3	4	3	2	4	1	3	2	5	3			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:29552216T>A	uc002hgg.3	+	16	2332	c.1949T>A	c.(1948-1950)tTa>tAa	p.L650*	NF1_uc002hgh.3_Nonsense_Mutation_p.L650*|NF1_uc010csn.2_Nonsense_Mutation_p.L510*|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	650					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CATGAAGAATTACTACGTACT	0.423			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			38	119					0	0	1	0	0	A	29552216	T	A	29552216	4	1	39	1	0	0	0	0	0	1	0	0	10356	1764	61	5	2076	5	NF1	17	29552216	Nonsense_Mutation	SNP	T	TCGA-DB-A64O-01A-11D-A29Q-08	12157511	29552216	51642994	21	1633											
NF1	4763	broad.mit.edu	37	chr17	29562657	29562660	+	Frame_Shift_Del	DEL	TGTT	TGTT	-																															agctcgagttctggttactcTgtttgattctcggcatttac																										TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:29562657_29562660delTGTT	uc002hgg.3	+	27	4120_4123	c.3737_3740delTGTT	c.(3736-3741)ctgtttfs	p.L1246fs	NF1_uc002hgh.3_Frame_Shift_Del_p.L1246fs|NF1_uc010csn.2_Frame_Shift_Del_p.L1106fs|NF1_uc002hgi.1_Frame_Shift_Del_p.L279fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1246	Ras-GAP.				MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)|p.F1247fs*16(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGGTTACTCTGTTTGATTCTCGG	0.412			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			62	192	---	---	---	---						-	29562660	TGTT	-	29562657	7	5	39	1	0	1	0	1	0	0	0	0	10356	1580	55	0	3908	0	NF1	17	29562657	Frame_Shift_Del	DEL	TGTT	TCGA-DB-A64O-01A-11D-A29Q-08	10441	29562657	51632553	22	1634											
ATP9B	374868	broad.mit.edu	37	chr18	77134067	77134067	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcagcttaggctgctaCgtgtcctcactcgcttttct	4	16	7	14	2	3	0	2	0	1	0	6	0	5	0	2	1	3	4	2	1	2	5			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr18:77134067C>T	uc002lmx.3	+	27	3254	c.3240C>T	c.(3238-3240)taC>taT	p.Y1080Y	ATP9B_uc002lmw.1_Silent_p.Y1080Y|ATP9B_uc002lna.3_Silent_p.Y106Y|ATP9B_uc002lnb.1_3'UTR|ATP9B_uc010drb.3_Non-coding_Transcript	NM_198531	NP_940933	O43861	ATP9B_HUMAN	Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.	1080					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TAGGCTGCTACGTGTCCTCAC	0.478													17	47					0	0	1	0	0	T	77134067	C	T	77134067	2	4	39	1	0	0	0	0	0	0	0	1	1199	547	19	1		1	ATP9B	18	77134067	Silent	SNP	C	TCGA-DB-A64O-01A-11D-A29Q-08		77134067	943181	23	1635											
SLC9A7	84679	broad.mit.edu	37	chrX	46510652	46510652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccaggaaatgtaacacctCaaagagctgcacagagaagg	16	5	11	9	0	1	2	1	0	0	2	1	4	1	3	2	2	4	3	2	2	4	1			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chrX:46510652C>T	uc004dgu.1	-	9	1248	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K		NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 7 (SLC9A7), mRNA.	414					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						TGTAACACCTCAAAGAGCTGC	0.498													19	22					0	0	1	0	0	T	46510652	C	T	46510652	3	4	39	1	0	0	0	0	1	0	0	0	14719	835	29	3	969	3	SLC9A7	23	46510652	Missense_Mutation	SNP	C	TCGA-DB-A64O-01A-11D-A29Q-08		46510652	108759908	24	1636											
NR5A2	2494	broad.mit.edu	37	chr1	200017321	200017321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaagggccgaccgaatgcGtggaggaaggaataagtttg	12	8	16	5	3	0	0	0	0	0	0	0	5	0	3	2	4	1	2	2	4	5	3			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr1:200017321G>A	uc001gvb.3	+	4	691	c.485G>A	c.(484-486)cGt>cAt	p.R162H	NR5A2_uc001gvc.3_Missense_Mutation_p.R116H|NR5A2_uc009wzh.3_Missense_Mutation_p.R122H|NR5A2_uc010pph.2_Missense_Mutation_p.R90H	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	162					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					GACCGAATGCGTGGAGGAAGG	0.478													14	108					0	0	1	0	0	A	200017321	G	A	200017321	3	1	40	1	0	0	0	0	1	0	0	0	10636	1145	40	1	503	1	NR5A2	1	200017321	Missense_Mutation	SNP	G	TCGA-DB-A64P-01A-11D-A29Q-08		200017321	49233300	1	1637											
KDM5B	10765	broad.mit.edu	37	chr1	202719900	202719900	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagcacactgattagttcGgtaaacctaaagagacagaa	16	7	8	10	1	0	3	0	1	0	2	1	4	0	3	2	1	2	3	2	1	6	4			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr1:202719900G>A	uc009xag.3	-	13	1932	c.1816C>T	c.(1816-1818)Cga>Tga	p.R606*	KDM5B_uc001gyf.3_Nonsense_Mutation_p.R570*|KDM5B_uc001gyg.1_Nonsense_Mutation_p.R412*	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	570	JmjC.				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TGATTAGTTCGGTAAACCTAA	0.358													40	40					0	0	1	0	0	A	202719900	G	A	202719900	4	1	40	1	0	0	0	0	0	1	0	0	8134	1124	39	2	2986	2	KDM5B	1	202719900	Nonsense_Mutation	SNP	G	TCGA-DB-A64P-01A-11D-A29Q-08	2702579	202719900	46530721	2	1638											
OR2G6	391211	broad.mit.edu	37	chr1	248685210	248685210	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctggttaccatgaataagaAagacaaaaccatgagctacg	17	7	9	8	1	0	4	0	2	0	2	0	4	0	4	2	1	4	3	2	1	7	3			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr1:248685210A>T	uc001ien.1	+	0	263	c.263A>T	c.(262-264)aAa>aTa	p.K88I		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGAATAAGAAAGACAAAACC	0.517													39	90					0	0	1	0	0	T	248685210	A	T	248685210	3	4	40	1	0	0	0	0	1	0	0	0	11000	14	1	5	265	5	OR2G6	1	248685210	Missense_Mutation	SNP	A	TCGA-DB-A64P-01A-11D-A29Q-08	45965310	248685210	565411	3	1639											
STON1-GTF2A1L	286749	broad.mit.edu	37	chr2	48809142	48809142	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaacctggaatgctttttaaCcttgaatgaccttgagttgc	10	14	9	8	0	0	3	0	3	0	0	0	5	0	4	3	1	4	2	3	1	4	6			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr2:48809142C>A	uc002rwp.2	+	1	1484	c.1370C>A	c.(1369-1371)aCc>aAc	p.T457N	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.T457N|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.T457N|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.T457N|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.T457N	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	457					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGCTTTTTAACCTTGAATGAC	0.373													52	76					6.3008e-33	6.91552e-33	1	1	0	A	48809142	C	A	48809142	3	1	40	1	0	0	0	0	1	0	0	0	15316	507	18	5	1372	5	STON1-GTF2A1L	2	48809142	Missense_Mutation	SNP	C	TCGA-DB-A64P-01A-11D-A29Q-08		48809142	194390231	4	1640											
PLEK	5341	broad.mit.edu	37	chr2	68607922	68607922	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcagccttcctggaggagaGagatgcctgggttcgggata	8	8	17	8	1	0	2	0	0	0	2	2	6	1	4	3	5	2	2	3	5	1	3			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr2:68607922G>C	uc002sen.4	+	2	428	c.266G>C	c.(265-267)aGa>aCa	p.R89T	PLEK_uc010fde.3_Missense_Mutation_p.R89T	NM_002664	NP_002655	P08567	PLEK_HUMAN	Homo sapiens pleckstrin (PLEK), mRNA.	89	PH 1.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		CTGGAGGAGAGAGATGCCTGG	0.468													9	162					0	0	1	0	0	C	68607922	G	C	68607922	3	2	40	1	0	0	0	0	1	0	0	0	12053	942	33	5	276	5	PLEK	2	68607922	Missense_Mutation	SNP	G	TCGA-DB-A64P-01A-11D-A29Q-08	19798780	68607922	174591451	5	1641											
ARHGEF4	50649	broad.mit.edu	37	chr2	131797917	131797917	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgggaacatcgaggacatCtaccgctgccagaaggcctt	10	8	11	12	3	1	1	0	0	1	1	3	4	1	3	3	3	3	1	3	3	3	3			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr2:131797917C>A	uc002tsa.1	+	7	1527	c.1008C>A	c.(1006-1008)atC>atA	p.I336I	ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Silent_p.I336I|ARHGEF4_uc010fmx.1_Intron|ARHGEF4_uc002tsc.1_5'UTR	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 4 (ARHGEF4), transcript variant 1, mRNA.	336	DH.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein domain specific binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		TCGAGGACATCTACCGCTGCC	0.642													12	25					0.0931896	0.0953075	1	1	0	A	131797917	C	A	131797917	2	1	40	1	0	0	0	0	0	0	0	1	908	903	32	5		5	ARHGEF4	2	131797917	Silent	SNP	C	TCGA-DB-A64P-01A-11D-A29Q-08	63189995	131797917	111401456	6	1642											
NEB	4703	broad.mit.edu	37	chr2	152497171	152497171	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttacgatagccttcttTgtacttgaactaaaagaaga	13	13	7	8	1	1	3	0	1	1	2	1	4	1	3	1	0	5	2	1	0	7	7			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr2:152497171T>C	uc021vrb.1	-	58	8412	c.8383A>G	c.(8383-8385)Aaa>Gaa	p.K2795E	NEB_uc002txu.3_Missense_Mutation_p.K2795E|NEB_uc021vrc.1_Missense_Mutation_p.K2795E|NEB_uc010fnx.3_Missense_Mutation_p.K2795E|NEB_uc021vrd.1_Missense_Mutation_p.K2795E	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2795					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAGCCTTCTTTGTACTTGAAC	0.403													73	83					0	0	1	0	0	C	152497171	T	C	152497171	3	2	40	1	0	0	0	0	1	0	0	0	10302	1821	63	3	17791	3	NEB	2	152497171	Missense_Mutation	SNP	T	TCGA-DB-A64P-01A-11D-A29Q-08	20699254	152497171	90702202	7	1643											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								29	26					0	0	1	0	0	T	209113112	C	T	209113112	3	4	40	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A64P-01A-11D-A29Q-08	56615941	209113112	34086261	8	1644											
IRS1	3667	broad.mit.edu	37	chr2	227662776	227662776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggccccgtcacggcagaacGgcccacctcgatgaagaaga	11	3	13	14	4	1	4	1	1	0	3	2	5	1	4	4	3	1	1	4	3	3	0			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr2:227662776G>A	uc021vxn.1	-	0	679	c.679C>T	c.(679-681)Cgt>Tgt	p.R227C	IRS1_uc002voh.4_Missense_Mutation_p.R227C	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	227	IRS-type PTB.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		ACGGCAGAACGGCCCACCTCG	0.617											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	135					0	0	1	0	0	A	227662776	G	A	227662776	3	1	40	1	0	0	0	0	1	0	0	0	7840	1116	39	2	3053	2	IRS1	2	227662776	Missense_Mutation	SNP	G	TCGA-DB-A64P-01A-11D-A29Q-08	18549664	227662776	15536597	9	1645											
FBXW12	285231	broad.mit.edu	37	chr3	48420003	48420003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcctatcttacaaaggatgGcccattcctgatggtaagtg	11	11	10	9	0	1	1	0	1	1	0	2	2	2	2	3	3	2	1	3	3	4	4			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr3:48420003G>A	uc003csr.3	+	5	788	c.602G>A	c.(601-603)gGc>gAc	p.G201D	FBXW12_uc010hjv.3_Missense_Mutation_p.G182D|FBXW12_uc003css.3_Intron|FBXW12_uc010hjw.3_Missense_Mutation_p.G100D|Metazoa_SRP_uc021wxm.1_5'Flank	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN	Homo sapiens F-box and WD repeat domain containing 12 (FBXW12), transcript variant 1, mRNA.	201										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACAAAGGATGGCCCATTCCTG	0.483													3	23					0	0	1	0	0	A	48420003	G	A	48420003	3	1	40	1	0	0	0	0	1	0	0	0	5765	1203	42	3	657	3	FBXW12	3	48420003	Missense_Mutation	SNP	G	TCGA-DB-A64P-01A-11D-A29Q-08		48420003	149602427	10	1646											
TLR9	54106	broad.mit.edu	37	chr3	52257400	52257400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcactcaggtccagcactCggaggtttcccagcccacgg	7	8	10	16	2	2	0	2	0	1	0	6	1	4	1	3	4	2	2	3	4	0	1	rs141692865	byFrequency	TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr3:52257400C>T	uc003ddb.3	-	4	1433	c.1223G>A	c.(1222-1224)cGa>cAa	p.R408Q	TLR9_uc003dda.2_Missense_Mutation_p.R311Q	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	Homo sapiens toll-like receptor 9 (TLR9), mRNA.	311					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GTCCAGCACTCGGAGGTTTCC	0.532													22	79					0	0	1	0	0	T	52257400	C	T	52257400	3	4	40	1	0	0	0	0	1	0	0	0	15955	884	31	2	2170	2	TLR9	3	52257400	Missense_Mutation	SNP	C	TCGA-DB-A64P-01A-11D-A29Q-08	3837397	52257400	145765030	11	1647											
CXCL13	10563	broad.mit.edu	37	chr4	78528958	78528958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgaattcaaatcttgcccCgtgggaatggttgtccaaga	11	11	10	9	2	2	1	1	0	1	1	4	3	3	2	3	2	1	1	3	2	4	3	rs150188610	by1000genomes	TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr4:78528958C>T	uc003hkr.3	+	2	244	c.166C>T	c.(166-168)Cgt>Tgt	p.R56C		NM_006419	NP_006410	O43927	CXL13_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 13 (CXCL13), mRNA.	56					B cell chemotaxis|activation of Rap GTPase activity|cell-cell signaling|chronic inflammatory response|defense response to bacterium|elevation of cytosolic calcium ion concentration|endothelial cell chemotaxis to fibroblast growth factor|germinal center formation|lymphocyte chemotaxis across high endothelial venule|negative regulation of apoptosis|positive regulation of T cell chemotaxis|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of integrin activation|regulation of angiogenesis|regulation of humoral immune response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|CXCR3 chemokine receptor binding|CXCR5 chemokine receptor binding|chemokine activity|fibroblast growth factor 2 binding|heparin binding|protein heterodimerization activity|receptor agonist activity			large_intestine(1)|ovary(1)|skin(1)|urinary_tract(1)	4						AATCTTGCCCCGTGGGAATGG	0.383													13	58					0	0	1	0	0	T	78528958	C	T	78528958	3	4	40	1	0	0	0	0	1	0	0	0	4081	652	23	2	172	2	CXCL13	4	78528958	Missense_Mutation	SNP	C	TCGA-DB-A64P-01A-11D-A29Q-08		78528958	112625318	12	1648											
KIAA1109	84162	broad.mit.edu	37	chr4	123166209	123166209	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttcattgtgctagtaccCgacatccagctgcaattgta	9	13	9	10	1	1	0	1	0	0	0	2	1	2	0	2	1	4	6	2	1	4	6			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr4:123166209C>T	uc003ieh.3	+	29	4996	c.4951C>T	c.(4951-4953)Cga>Tga	p.R1651*	KIAA1109_uc003iek.2_Nonsense_Mutation_p.R270*	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	1651					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGCTAGTACCCGACATCCAGC	0.343													20	57					0	0	1	0	0	T	123166209	C	T	123166209	4	4	40	1	0	0	0	0	0	1	0	0	8208	644	23	2	5069	2	KIAA1109	4	123166209	Nonsense_Mutation	SNP	C	TCGA-DB-A64P-01A-11D-A29Q-08	44637251	123166209	67988067	13	1649											
WNT8A	7478	broad.mit.edu	37	chr5	137424684	137424685	+	Frame_Shift_Del	DEL	TT	TT	-																															gggaaaggatctccaaactcTttgtggacagtttggagaag																										TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr5:137424684_137424685delTT	uc011cyk.1	+	3	726_727	c.490_491delTT	c.(490-492)tttfs	p.F164fs	WNT8A_uc011cyj.1_Frame_Shift_Del_p.F164fs|WNT8A_uc003lcd.1_Frame_Shift_Del_p.F146fs			Q9H1J5	WNT8A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 8A (WNT8A), mRNA.	146					Wnt receptor signaling pathway, calcium modulating pathway|brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTCCAAACTCTTTGTGGACAGT	0.51													19	175	---	---	---	---						-	137424685	TT	-	137424684	7	5	40	1	0	1	0	1	0	0	0	0	17393	1609	56	0	454	0	WNT8A	5	137424684	Frame_Shift_Del	DEL	TT	TCGA-DB-A64P-01A-11D-A29Q-08		137424684	43490576	14	1650											
PCDHAC2	56134	broad.mit.edu	37	chr5	140201485	140201485	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaggaagccaaacacggaaCcttcgttggccgcatcgcgc	10	5	13	13	5	0	0	0	0	0	0	2	3	0	3	3	4	3	2	3	4	3	2			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr5:140201485C>A	uc003lhl.2	+	0	125	c.125C>A	c.(124-126)aCc>aAc	p.T42N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.T42N|PCDHAC2_uc003lhj.1_Missense_Mutation_p.T42N	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	56					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACACGGAACCTTCGTTGGC	0.677													24	101					1.22574e-08	1.31329e-08	1	1	0	A	140201485	C	A	140201485	3	1	40	1	0	0	0	0	1	0	0	0	11533	507	18	5		5	PCDHAC2	5	140201485	Missense_Mutation	SNP	C	TCGA-DB-A64P-01A-11D-A29Q-08	2776801	140201485	40713775	15	1651											
FAT2	2196	broad.mit.edu	37	chr5	150946296	150946296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctgctaggcgggccaaggGggtgttgatagggacactct	7	8	18	8	1	1	1	0	1	1	0	1	2	1	2	1	6	1	3	1	6	3	3			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr5:150946296G>A	uc003lue.4	-	0	2210	c.2197C>T	c.(2197-2199)Ccc>Tcc	p.P733S	FAT2_uc010jhx.1_Missense_Mutation_p.P733S	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	733	Cadherin 6.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGGCCAAGGGGGTGTTGATA	0.483													62	84					0	0	1	0	0	A	150946296	G	A	150946296	3	1	40	1	0	0	0	0	1	0	0	0	5690	1232	43	3	10944	3	FAT2	5	150946296	Missense_Mutation	SNP	G	TCGA-DB-A64P-01A-11D-A29Q-08	10744811	150946296	29968964	16	1652											
STEAP1	26872	broad.mit.edu	37	chr7	89790617	89790617	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagatacaagttgctaaacTgggcatatcaacaggtaaga	17	8	9	7	0	1	2	1	0	0	2	1	2	1	2	0	2	4	4	0	2	7	5			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr7:89790617T>A	uc003ujx.3	+	2	783	c.583T>A	c.(583-585)Tgg>Agg	p.W195R	STEAP1_uc010lem.3_Missense_Mutation_p.W195R	NM_012449	NP_036581	Q9UHE8	STEA1_HUMAN	Homo sapiens six transmembrane epithelial antigen of the prostate 1 (STEAP1), mRNA.	195	Ferric oxidoreductase.				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					GTTGCTAAACTGGGCATATCA	0.363													5	34					0	0	1	0	0	A	89790617	T	A	89790617	3	1	40	1	0	0	0	0	1	0	0	0	15276	1580	55	5	589	5	STEAP1	7	89790617	Missense_Mutation	SNP	T	TCGA-DB-A64P-01A-11D-A29Q-08		89790617	69348046	17	1653											
KLF14	136259	broad.mit.edu	37	chr7	130418098	130418098	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggcagagggggcaggagaAgcgcttctcgcccgtgtgcg	6	5	20	10	4	1	2	0	0	1	2	2	3	1	2	1	5	2	3	1	5	1	1			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr7:130418098A>C	uc003vqk.2	-	0	791	c.763T>G	c.(763-765)Ttc>Gtc	p.F255V		NM_138693	NP_619638	Q8TD94	KLF14_HUMAN	Homo sapiens Kruppel-like factor 14 (KLF14), mRNA.	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					GGGCAGGAGAAGCGCTTCTCG	0.622													8	17					0	0	1	0	0	C	130418098	A	C	130418098	3	2	40	1	0	0	0	0	1	0	0	0	8342	72	3	5	212	5	KLF14	7	130418098	Missense_Mutation	SNP	A	TCGA-DB-A64P-01A-11D-A29Q-08	40627481	130418098	28720565	18	1654											
ZNF33B	7582	broad.mit.edu	37	chr10	43089024	43089024	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgtgtgagttctctggtgTactgtaaggtgtgaattcat	7	16	12	6	0	2	2	1	2	1	0	3	2	2	2	1	2	1	3	1	2	3	4	rs140001885		TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr10:43089024T>C	uc001jaf.1	-	4	1489	c.1374A>G	c.(1372-1374)gtA>gtG	p.V458V	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Silent_p.V346V|ZNF33B_uc001jad.3_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	Homo sapiens zinc finger protein 33B (ZNF33B), mRNA.	458						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TTCTCTGGTGTACTGTAAGGT	0.403													3	66					0	0	1	0	0	C	43089024	T	C	43089024	2	2	40	1	0	0	0	0	0	0	0	1	17852	1625	57	3		3	ZNF33B	10	43089024	Silent	SNP	T	TCGA-DB-A64P-01A-11D-A29Q-08		43089024	92445723	19	1655											
SYT7	9066	broad.mit.edu	37	chr11	61295549	61295549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggccttcatgatcttcaCggtgagcgtggactcctgga	6	11	13	11	2	3	2	2	2	1	0	4	4	4	4	2	4	1	0	2	4	0	2	rs382505		TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr11:61295549C>T	uc001nrv.3	-	4	512	c.460G>A	c.(460-462)Gtg>Atg	p.V154M	SYT7_uc009ynr.3_Missense_Mutation_p.V229M	NM_004200	NP_004191	O43581	SYT7_HUMAN	Homo sapiens synaptotagmin VII (SYT7), transcript variant 2, mRNA.	154	C2 1.			V -> L (in Ref. 1; AAB92667).		cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ATGATCTTCACGGTGAGCGTG	0.612													23	116					0	0	1	0	0	T	61295549	C	T	61295549	3	4	40	1	0	0	0	0	1	0	0	0	15476	536	19	1	771	1	SYT7	11	61295549	Missense_Mutation	SNP	C	TCGA-DB-A64P-01A-11D-A29Q-08		61295549	73710967	20	1656											
RAD52	5893	broad.mit.edu	37	chr12	1023182	1023182	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatctggttgttcaaggctAatgtgtcagaggtctgggct	7	13	13	8	0	4	1	2	0	2	1	4	1	4	1	1	4	0	4	1	4	2	3			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr12:1023182A>T	uc001qis.1	-	10	1187	c.1073T>A	c.(1072-1074)tTa>tAa	p.L358*	RAD52_uc001qit.1_Non-coding_Transcript|RAD52_uc010sdt.1_Nonsense_Mutation_p.L281*|RAD52_uc001qiu.1_Nonsense_Mutation_p.L358*|RAD52_uc001qiv.1_Non-coding_Transcript|RAD52_uc001qiw.1_Non-coding_Transcript	NM_134424	NP_602296	P43351	RAD52_HUMAN	Homo sapiens RAD52 homolog (S. cerevisiae) (RAD52), mRNA.	358					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			GTTCAAGGCTAATGTGTCAGA	0.522								Homologous recombination					15	100					0	0	1	0	0	T	1023182	A	T	1023182	4	4	40	1	0	0	0	0	0	1	0	0	12991	372	13	5	191	5	RAD52	12	1023182	Nonsense_Mutation	SNP	A	TCGA-DB-A64P-01A-11D-A29Q-08		1023182	132828713	21	1657											
TMEM132B	114795	broad.mit.edu	37	chr12	125900205	125900205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcacctgcatgggccatcGcccggacacgcagagcaggt	8	5	12	16	3	1	1	1	0	0	1	2	2	1	2	4	3	2	3	4	3	0	0			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr12:125900205G>A	uc001uhe.1	+	2	1081	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H	TMEM132B_uc021rgl.1_Missense_Mutation_p.R248H	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	358						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ATGGGCCATCGCCCGGACACG	0.592													16	69					0	0	1	0	0	A	125900205	G	A	125900205	3	1	40	1	0	0	0	0	1	0	0	0	16043	1087	38	1	1083	1	TMEM132B	12	125900205	Missense_Mutation	SNP	G	TCGA-DB-A64P-01A-11D-A29Q-08	124877023	125900205	7951690	22	1658											
PARP16	54956	broad.mit.edu	37	chr15	65551839	65551839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatacagggatatcatgacgGtaaaccaatggctggaaaac	16	7	11	7	1	1	1	1	1	0	0	1	4	1	3	1	4	3	2	1	4	7	3			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr15:65551839G>A	uc002aoq.3	-	5	1132	c.878C>T	c.(877-879)aCc>aTc	p.T293I	PARP16_uc002aoo.3_Missense_Mutation_p.T292I|PARP16_uc002aop.3_Missense_Mutation_p.T177I	NM_017851	NP_060321	Q8N5Y8	PAR16_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 16 (PARP16), mRNA.	292						integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						TATCATGACGGTAAACCAATG	0.428													4	161					0	0	1	0	0	A	65551839	G	A	65551839	3	1	40	1	0	0	0	0	1	0	0	0	11460	1261	44	3	97	3	PARP16	15	65551839	Missense_Mutation	SNP	G	TCGA-DB-A64P-01A-11D-A29Q-08		65551839	36979553	23	1659											
CASKIN1	57524	broad.mit.edu	37	chr16	2246363	2246364	+	Frame_Shift_Del	DEL	TG	TG	-																															ccttcccgggccgcggcctcTgcagcagcctctgcgcggtc																										TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr16:2246363_2246364delTG	uc010bsg.1	-	0	102_103	c.70_71delCA	c.(70-72)cagfs	p.Q24fs		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	Homo sapiens CASK interacting protein 1 (CASKIN1), mRNA.	24					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CCGCGGCCTCTGCAGCAGCCTC	0.812													2	4	---	---	---	---						-	2246364	TG	-	2246363	7	5	40	1	0	1	0	1	0	0	0	0	2666	1580	55	0	4304	0	CASKIN1	16	2246363	Frame_Shift_Del	DEL	TG	TCGA-DB-A64P-01A-11D-A29Q-08		2246363	88108390	24	1660											
ITGAX	3687	broad.mit.edu	37	chr16	31374553	31374553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctggggtcgctttggggCggctctgacagtgctggggg	2	9	19	11	2	1	1	0	1	1	0	2	1	1	1	2	7	1	3	2	7	0	1			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr16:31374553C>T	uc002ebt.3	+	13	1635	c.1568C>T	c.(1567-1569)gCg>gTg	p.A523V	ITGAX_uc002ebu.1_Missense_Mutation_p.A523V|ITGAX_uc010vfk.1_Missense_Mutation_p.A173V	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	523					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CGCTTTGGGGCGGCTCTGACA	0.617													43	208					0	0	1	0	0	T	31374553	C	T	31374553	3	4	40	1	0	0	0	0	1	0	0	0	7889	768	27	1	1622	1	ITGAX	16	31374553	Missense_Mutation	SNP	C	TCGA-DB-A64P-01A-11D-A29Q-08	29128190	31374553	58980200	25	1661											
THRA	7067	broad.mit.edu	37	chr17	38240101	38240101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accccagggcttctttcgccGcacaatccagaagaacctcc	10	7	7	17	2	1	2	0	0	1	2	4	2	3	2	6	1	1	2	6	1	3	2			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr17:38240101G>A	uc021twy.1	+	4	792	c.236G>A	c.(235-237)cGc>cAc	p.R79H	THRA_uc010cwp.1_Missense_Mutation_p.R79H|THRA_uc002htv.3_Missense_Mutation_p.R79H|THRA_uc002htw.3_Missense_Mutation_p.R79H|THRA_uc002htx.3_Missense_Mutation_p.R79H	NM_001190919	NP_003241	P10827	THA_HUMAN	Homo sapiens thyroid hormone receptor, alpha (THRA), transcript variant 4, mRNA.	79					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	TBP-class protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.R79H(3)		endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	TTCTTTCGCCGCACAATCCAG	0.547													4	128					0	0	1	0	0	A	38240101	G	A	38240101	3	1	40	1	0	0	0	0	1	0	0	0	15870	1087	38	1	250	1	THRA	17	38240101	Missense_Mutation	SNP	G	TCGA-DB-A64P-01A-11D-A29Q-08		38240101	42955109	26	1662											
JUP	3728	broad.mit.edu	37	chr17	39914694	39914694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagccggaagatctccatgCggttcatggggtcccgggcg	6	8	16	11	4	2	2	1	1	1	1	4	3	3	3	3	5	2	1	3	5	1	1			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr17:39914694C>T	uc002hxq.2	-	9	2007	c.1730G>A	c.(1729-1731)cGc>cAc	p.R577H	JUP_uc010wfs.2_Intron|JUP_uc002hxr.2_Missense_Mutation_p.R577H|JUP_uc002hxs.2_Missense_Mutation_p.R577H	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	577					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of Wnt receptor signaling pathway involved in heart development|negative regulation of heart induction by canonical Wnt receptor signaling pathway|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	Axin-APC-beta-catenin-GSK3B complex|Z disc|actin cytoskeleton|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|zonula adherens	RPTP-like protein binding|alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GATCTCCATGCGGTTCATGGG	0.622													35	61					0	0	1	0	0	T	39914694	C	T	39914694	3	4	40	1	0	0	0	0	1	0	0	0	7972	768	27	1	527	1	JUP	17	39914694	Missense_Mutation	SNP	C	TCGA-DB-A64P-01A-11D-A29Q-08	1674593	39914694	41280516	27	1663											
LRRC37A2	474170	broad.mit.edu	37	chr17	44630803	44630812	+	Frame_Shift_Del	DEL	AAGGATTCTC	AAGGATTCTC	-																															gtcattacaagaagatgaagAaggattctcaaggtaaatat																										TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr17:44630803_44630812delAAGGATTCTC	uc002ikn.1	+	10	4850_4859	c.4847_4856delAAGGATTCTC	c.(4846-4857)gaaggattctcafs	p.E1616fs	ARL17A_uc002iko.4_Intron|LRRC37A2_uc002ikq.1_Frame_Shift_Del_p.E577fs|ARL17A_uc002iks.2_3'UTR	NM_001006607	NP_001006608	A6NM11	L37A2_HUMAN	Homo sapiens leucine rich repeat containing 37, member A2 (LRRC37A2), mRNA.	1616						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		GAAGATGAAGAAGGATTCTCAAGGTAAATA	0.395													22	76	---	---	---	---						-	44630812	AAGGATTCTC	-	44630803	7	5	40	1	0	1	0	1	0	0	0	0	8992	246	9	0	4889	0	LRRC37A2	17	44630803	Frame_Shift_Del	DEL	AAGGATTCTC	TCGA-DB-A64P-01A-11D-A29Q-08	4716109	44630803	36564407	28	1664											
MUC16	94025	broad.mit.edu	37	chr19	9082770	9082770	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgacctgtgctgaagagAgttgtgagttttgatgcaag	9	13	14	5	0	0	5	0	4	0	1	0	6	0	5	1	0	2	5	1	0	2	4			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr19:9082770A>G	uc002mkp.3	-	0	9249	c.9045T>C	c.(9043-9045)acT>acC	p.T3015T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3016	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCTGAAGAGAGTTGTGAGTT	0.493													24	92					0	0	1	0	0	G	9082770	A	G	9082770	2	3	40	1	0	0	0	0	0	0	0	1	9973	291	11	4		4	MUC16	19	9082770	Silent	SNP	A	TCGA-DB-A64P-01A-11D-A29Q-08		9082770	50046213	29	1665											
ZNF266	10781	broad.mit.edu	37	chr19	9526349	9526349	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccatttgaatcccactggagGttggctcccccaaaacatcc	10	9	7	15	0	0	1	0	1	0	0	3	2	3	2	5	3	1	2	5	3	3	2			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr19:9526349G>A	uc010dwq.3	-	7	1393	c.185C>T	c.(184-186)aCc>aTc	p.T62I	ZNF266_uc002mll.3_Missense_Mutation_p.T62I|ZNF266_uc002mlm.3_Missense_Mutation_p.T62I|ZNF266_uc002mln.3_Missense_Mutation_p.T62I|ZNF266_uc002mlo.3_Missense_Mutation_p.T62I	NM_198058	NP_932175	Q14584	ZN266_HUMAN	Homo sapiens zinc finger protein 266 (ZNF266), mRNA.	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						CCCACTGGAGGTTGGCTCCCC	0.388													6	44					0	0	1	0	0	A	9526349	G	A	9526349	3	1	40	1	0	0	0	0	1	0	0	0	17802	1261	44	3	1472	3	ZNF266	19	9526349	Missense_Mutation	SNP	G	TCGA-DB-A64P-01A-11D-A29Q-08	443579	9526349	49602634	30	1666											
CIC	23152	broad.mit.edu	37	chr19	42791719	42791719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaggaccacatccggcGgcccatgaatgccttcatga	11	6	12	12	2	1	3	1	2	0	1	2	5	2	4	4	4	1	0	4	4	2	1			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr19:42791719G>A	uc002otf.1	+	4	645	c.605G>A	c.(604-606)cGg>cAg	p.R202Q		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R202W(1)|p.R201W(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CACATCCGGCGGCCCATGAAT	0.627			"Mis, F, S"		oligodendroglioma								27	63					0	0	1	0	0	A	42791719	G	A	42791719	3	1	40	1	0	0	0	0	1	0	0	0	3424	1116	39	2	623	2	CIC	19	42791719	Missense_Mutation	SNP	G	TCGA-DB-A64P-01A-11D-A29Q-08	33265370	42791719	16337264	31	1667											
TPTE	7179	broad.mit.edu	37	chr21	10941933	10941933	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggatttctatagaaagacTgccttccagaagatggaaat	14	12	9	6	0	1	4	0	0	1	4	2	6	2	6	2	2	1	0	2	2	5	5			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr21:10941933T>C	uc002yip.1	-	13	1138	c.770A>G	c.(769-771)cAg>cGg	p.Q257R	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.Q239R|TPTE_uc002yir.1_Missense_Mutation_p.Q219R|TPTE_uc010gkv.1_Missense_Mutation_p.Q119R	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	257	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATAGAAAGACTGCCTTCCAGA	0.308													28	108					0	0	1	0	0	C	10941933	T	C	10941933	3	2	40	1	0	0	0	0	1	0	0	0	16427	1580	55	4	929	4	TPTE	21	10941933	Missense_Mutation	SNP	T	TCGA-DB-A64P-01A-11D-A29Q-08		10941933	37187962	32	1668											
ARSE	415	broad.mit.edu	37	chrX	2853194	2853194	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccggctccctctggctggaaCacaggcgtcacaaagtggac	9	6	12	14	2	2	0	1	0	1	0	3	2	3	2	2	5	1	2	2	5	2	0			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chrX:2853194C>A	uc011mhh.2	-	11	1985	c.1524G>T	c.(1522-1524)gtG>gtT	p.V508V	ARSE_uc011mhi.2_Silent_p.V429V|ARSE_uc004crc.4_Silent_p.V483V			P51690	ARSE_HUMAN	Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA.	483					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGGCTGGAACACAGGCGTCA	0.507													3	20					0.115264	0.115264	1	1	0	A	2853194	C	A	2853194	2	1	40	1	0	0	0	0	0	0	0	1	990	465	17	5		5	ARSE	23	2853194	Silent	SNP	C	TCGA-DB-A64P-01A-11D-A29Q-08		2853194	152417366	33	1669											
FUBP1	8880	broad.mit.edu	37	chr1	78429937	78429937	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagattattatatgtactcAcctggcttaaactgaatgcg	13	13	7	8	1	1	2	1	1	0	1	1	2	1	2	1	1	3	2	1	1	8	5			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr1:78429937A>C	uc001dii.3	-	11	1029	c.940_splice	c.e11+1	p.D314_splice	FUBP1_uc001dih.4_Splice_Site|FUBP1_uc010orm.2_Splice_Site_p.D335_splice	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	314	KH 3.				transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						ATATGTACTCACCTGGCTTAA	0.333			"F, N"		oligodendroglioma								18	13					0	0	1	0	0	C	78429937	A	C	78429937	5	2	41	1	0	0	0	0	0	0	1	0	6092	173	6	5	1032	5	FUBP1	1	78429937	Splice_Site	SNP	A	TCGA-DB-A64Q-01A-11D-A29Q-08		78429937	170820684	1	1670											
DCAF6	55827	broad.mit.edu	37	chr1	167956741	167956741	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcatcttcagattatgacTgtacccaatgacccttacac	11	14	4	12	0	3	3	2	2	1	1	3	3	3	3	2	0	2	1	2	0	4	5			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr1:167956741T>C	uc001gew.3	+	4	800	c.447T>C	c.(445-447)acT>acC	p.T149T	DCAF6_uc001gex.3_Silent_p.T149T|DCAF6_uc010plk.2_Silent_p.T118T|DCAF6_uc001gev.3_Silent_p.T149T|DCAF6_uc001gey.3_Silent_p.T2T	NM_001017977	NP_001017977	Q58WW2	DCAF6_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 6 (DCAF6), transcript variant 2, mRNA.	149					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AGATTATGACTGTACCCAATG	0.358													7	36					0	0	1	0	0	C	167956741	T	C	167956741	2	2	41	1	0	0	0	0	0	0	0	1	4274	1567	55	4		4	DCAF6	1	167956741	Silent	SNP	T	TCGA-DB-A64Q-01A-11D-A29Q-08	89526804	167956741	81293880	2	1671											
TLR5	7100	broad.mit.edu	37	chr1	223285526	223285526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaacttctggccaggccaGcaaatgtgttctggtcagga	9	10	12	10	0	3	1	1	1	2	0	3	2	3	2	2	4	2	2	2	4	2	2			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr1:223285526G>A	uc021pjl.1	-	0	848	c.848C>T	c.(847-849)gCt>gTt	p.A283V	TLR5_uc001hnv.2_Missense_Mutation_p.A283V|TLR5_uc001hnw.2_Missense_Mutation_p.A283V	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	283					MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		GGCCAGGCCAGCAAATGTGTT	0.483													4	93					0	0	1	0	0	A	223285526	G	A	223285526	3	1	41	1	0	0	0	0	1	0	0	0	15951	971	34	3	1732	3	TLR5	1	223285526	Missense_Mutation	SNP	G	TCGA-DB-A64Q-01A-11D-A29Q-08	55328785	223285526	25965095	3	1672											
KIDINS220	57498	broad.mit.edu	37	chr2	8872066	8872066	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaatttcaatactggaaTcctgggaattgagactcgaa	14	12	9	6	1	1	2	1	2	0	1	3	6	2	4	1	2	1	0	1	2	6	4			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr2:8872066T>C	uc002qzc.2	-	29	4282	c.4100A>G	c.(4099-4101)gAt>gGt	p.D1367G	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.D1268G|KIDINS220_uc002qzb.2_Missense_Mutation_p.D221G	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	1367					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AATACTGGAATCCTGGGAATT	0.388													43	62					0	0	1	0	0	C	8872066	T	C	8872066	3	2	41	1	0	0	0	0	1	0	0	0	8271	1435	50	3	1219	3	KIDINS220	2	8872066	Missense_Mutation	SNP	T	TCGA-DB-A64Q-01A-11D-A29Q-08		8872066	234327307	4	1673											
COL3A1	1281	broad.mit.edu	37	chr2	189855755	189855755	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgatggacgaaatggagaaaAgggtgaaacaggtgctcctg	14	6	15	6	2	0	2	0	1	0	1	1	6	1	3	1	4	2	1	1	4	4	0			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr2:189855755A>G	uc002uqj.1	+	10	941	c.824A>G	c.(823-825)aAg>aGg	p.K275R	COL3A1_uc010frw.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	275	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AATGGAGAAAAGGGTGAAACA	0.284													4	142					0	0	1	0	0	G	189855755	A	G	189855755	3	3	41	1	0	0	0	0	1	0	0	0	3688	72	3	4	866	4	COL3A1	2	189855755	Missense_Mutation	SNP	A	TCGA-DB-A64Q-01A-11D-A29Q-08	180983689	189855755	53343618	5	1674											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								23	34					0	0	1	0	0	T	209113112	C	T	209113112	3	4	41	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A64Q-01A-11D-A29Q-08	19257357	209113112	34086261	6	1675											
POLQ	10721	broad.mit.edu	37	chr3	121186388	121186388	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaaggcacaaaggcatgTcgcatgctaattgaaaatgg	15	7	13	6	1	0	1	0	1	0	0	1	2	0	2	0	4	1	4	0	4	5	2			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr3:121186388T>A	uc003eee.4	-	23	7074	c.6945A>T	c.(6943-6945)cgA>cgT	p.R2315R	POLQ_uc003eed.3_Silent_p.R1487R	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	2315					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CAAAGGCATGTCGCATGCTAA	0.443								DNA polymerases (catalytic subunits)					15	20					0	0	1	0	0	A	121186388	T	A	121186388	2	1	41	1	0	0	0	0	0	0	0	1	12208	1654	58	5		5	POLQ	3	121186388	Silent	SNP	T	TCGA-DB-A64Q-01A-11D-A29Q-08		121186388	76836042	7	1676											
XRN1	54464	broad.mit.edu	37	chr3	142136035	142136035	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaaatccactgtattgcCtgaacataacatgcagcttg	13	11	7	10	0	0	1	0	1	0	0	1	1	1	1	2	0	6	4	2	0	5	4			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr3:142136035C>T	uc003eus.3	-	12	1450	c.1383G>A	c.(1381-1383)caG>caA	p.Q461Q	XRN1_uc003eut.3_Silent_p.Q461Q|XRN1_uc003euu.3_Silent_p.Q461Q|XRN1_uc003euv.1_Silent_p.Q322Q	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.	461					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ACTGTATTGCCTGAACATAAC	0.348													26	46					0	0	1	0	0	T	142136035	C	T	142136035	2	4	41	1	0	0	0	0	0	0	0	1	17456	680	24	3		3	XRN1	3	142136035	Silent	SNP	C	TCGA-DB-A64Q-01A-11D-A29Q-08	20949647	142136035	55886395	8	1677											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr3:178936091G>A	uc003fjk.3	+	9	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(1952)|p.E545A(96)|p.E545G(79)|p.E545Q(39)|p.E545D(23)|p.E545?(19)|p.E545V(6)|p.(542_545)E>K(4)|p.T544N(3)|p.T544I(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			8	23					0	0	1	0	0	A	178936091	G	A	178936091	3	1	41	1	0	0	0	0	1	0	0	0	11913	1291	45	3	1667	3	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-DB-A64Q-01A-11D-A29Q-08	36800056	178936091	19086339	9	1678											
HSPA4L	22824	broad.mit.edu	37	chr4	128739562	128739562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agaggaaattgatcatacagGagccaaaacaaaggtttggt	17	8	11	5	0	1	2	1	1	0	1	1	4	1	4	1	4	3	1	1	4	5	3			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr4:128739562G>A	uc003ifm.3	+	12	1914	c.1661G>A	c.(1660-1662)gGa>gAa	p.G554E	HSPA4L_uc010iny.1_Missense_Mutation_p.G513E|HSPA4L_uc011cgr.2_Missense_Mutation_p.G521E	NM_014278	NP_055093	O95757	HS74L_HUMAN	Homo sapiens heat shock 70kDa protein 4-like (HSPA4L), mRNA.	554					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GATCATACAGGAGCCAAAACA	0.313													28	41					0	0	1	0	0	A	128739562	G	A	128739562	3	1	41	1	0	0	0	0	1	0	0	0	7413	1174	41	3	1711	3	HSPA4L	4	128739562	Missense_Mutation	SNP	G	TCGA-DB-A64Q-01A-11D-A29Q-08		128739562	62414714	10	1679											
TREML2	79865	broad.mit.edu	37	chr6	41165879	41165879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagctggaagcccatcaagGggtacaggatcccagaggtg	11	5	14	11	0	1	1	1	0	0	1	2	3	2	3	3	5	3	2	3	5	3	1			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr6:41165879G>A	uc010jxm.1	-	1	523	c.344C>T	c.(343-345)cCc>cTc	p.P115L		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	115	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCCCATCAAGGGGTACAGGAT	0.612													6	51					0	0	1	0	0	A	41165879	G	A	41165879	3	1	41	1	0	0	0	0	1	0	0	0	16470	1232	43	3	637	3	TREML2	6	41165879	Missense_Mutation	SNP	G	TCGA-DB-A64Q-01A-11D-A29Q-08		41165879	129949188	11	1680											
FRS3	10817	broad.mit.edu	37	chr6	41738833	41738833	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctcccagctgctgggcttGgctttcccacacagggggca	5	8	12	16	0	0	0	0	0	0	0	2	0	2	0	3	4	2	5	3	4	0	2			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr6:41738833G>A	uc003orc.1	-	6	1247	c.1003C>T	c.(1003-1005)Caa>Taa	p.Q335*		NM_006653	NP_006644	O43559	FRS3_HUMAN	Homo sapiens fibroblast growth factor receptor substrate 3 (FRS3), mRNA.	335					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGCTGGGCTTGGCTTTCCCAC	0.662													4	86					0	0	1	0	0	A	41738833	G	A	41738833	4	1	41	1	0	0	0	0	0	1	0	0	6062	1357	47	3	479	3	FRS3	6	41738833	Nonsense_Mutation	SNP	G	TCGA-DB-A64Q-01A-11D-A29Q-08	572954	41738833	129376234	12	1681											
ENPP1	5167	broad.mit.edu	37	chr6	132198210	132198210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctaaagaatcctgtttataCgccaaagcatcccaaagaag	16	9	6	10	1	1	2	0	0	1	2	3	2	3	2	3	0	2	2	3	0	8	4			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr6:132198210C>T	uc011ecf.2	+	17	1822	c.1802C>T	c.(1801-1803)aCg>aTg	p.T601M	ENPP1_uc003qcy.3_Missense_Mutation_p.T231M	NM_006208	NP_006199	P22413	ENPP1_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA.	601					3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CCTGTTTATACGCCAAAGCAT	0.448													15	14					0	0	1	0	0	T	132198210	C	T	132198210	3	4	41	1	0	0	0	0	1	0	0	0	5129	536	19	1	1872	1	ENPP1	6	132198210	Missense_Mutation	SNP	C	TCGA-DB-A64Q-01A-11D-A29Q-08	90459377	132198210	38916857	13	1682											
MLLT3	4300	broad.mit.edu	37	chr9	20414126	20414126	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctcttctttcagtggttTattttctttgggtttcttag	3	25	7	6	0	5	0	1	0	4	0	6	0	5	0	0	2	0	2	0	2	2	10			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr9:20414126T>C	uc003zoe.2	-	4	977	c.718A>G	c.(718-720)Aaa>Gaa	p.K240E	MLLT3_uc011lne.1_Missense_Mutation_p.K208E|MLLT3_uc011lnf.1_Missense_Mutation_p.K237E|MLLT3_uc003zof.3_Missense_Mutation_p.K41E|MIR4473_uc022bdy.1_5'Flank	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	240					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TTCAGTGGTTTATTTTCTTTG	0.388			T	MLL	ALL								96	134					0	0	1	0	0	C	20414126	T	C	20414126	3	2	41	1	0	0	0	0	1	0	0	0	9628	1763	61	3	1016	3	MLLT3	9	20414126	Missense_Mutation	SNP	T	TCGA-DB-A64Q-01A-11D-A29Q-08		20414126	120799305	14	1683											
GLT6D1	360203	broad.mit.edu	37	chr9	138516117	138516117	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagaaatctccctgtccaaaCgggatgcaagctgctgaggt	11	9	11	10	1	1	2	0	1	1	1	3	3	2	3	2	2	4	3	2	2	4	1			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr9:138516117C>T	uc010nbd.1	-	4	911	c.657G>A	c.(655-657)ccG>ccA	p.P219P		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	219			P -> S (in dbSNP:rs17040344).		carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	p.P219P(2)		endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		CCTGTCCAAACGGGATGCAAG	0.493													45	82					0	0	1	0	0	T	138516117	C	T	138516117	2	4	41	1	0	0	0	0	0	0	0	1	6468	523	19	1		1	GLT6D1	9	138516117	Silent	SNP	C	TCGA-DB-A64Q-01A-11D-A29Q-08	118101991	138516117	2697314	15	1684											
TEAD1	7003	broad.mit.edu	37	chr11	12901386	12901386	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgaccttcccaggggcgccGggggtaagtcatgagctcag	7	6	15	13	3	2	1	2	1	0	0	3	2	3	1	4	4	1	2	4	4	1	2			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr11:12901386G>A	uc021qdx.1	+	5	1082	c.462G>A	c.(460-462)ccG>ccA	p.P154P	TEAD1_uc001mkk.4_Silent_p.P58P|TEAD1_uc009ygl.3_Silent_p.P33P	NM_021961	NP_068780	P28347	TEAD1_HUMAN	Homo sapiens TEA domain family member 1 (SV40 transcriptional enhancer factor) (TEAD1), mRNA.	154	Pro-rich.				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.P139P(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CAGGGGCGCCGGGGGTAAGTC	0.597													48	73					0	0	1	0	0	A	12901386	G	A	12901386	2	1	41	1	0	0	0	0	0	0	0	1	15735	1103	39	2		2	TEAD1	11	12901386	Silent	SNP	G	TCGA-DB-A64Q-01A-11D-A29Q-08		12901386	122105130	16	1685											
EML1	2009	broad.mit.edu	37	chr14	100367314	100367314	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attctgtgacattgaatactCtccacgtcattggaataggt	11	14	8	8	1	3	2	1	2	2	0	4	3	3	3	1	2	1	0	1	2	4	5			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr14:100367314C>G	uc001ygr.3	+	9	1072	c.1003C>G	c.(1003-1005)Ctc>Gtc	p.L335V	EML1_uc010avt.1_Missense_Mutation_p.L303V|EML1_uc010tww.2_Missense_Mutation_p.L304V|EML1_uc001ygq.3_Missense_Mutation_p.L335V|EML1_uc001ygs.3_Missense_Mutation_p.L316V	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	316						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				ATTGAATACTCTCCACGTCAT	0.433													40	64					0	0	1	0	0	G	100367314	C	G	100367314	3	3	41	1	0	0	0	0	1	0	0	0	5096	913	32	5	1041	5	EML1	14	100367314	Missense_Mutation	SNP	C	TCGA-DB-A64Q-01A-11D-A29Q-08		100367314	6982226	17	1686											
KRTAP9-9	81870	broad.mit.edu	37	chr17	39412064	39412064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagccctgctgccgccccGcctgctgtgagaccacctgc	4	6	11	20	2	0	1	0	1	0	1	0	2	0	1	8	0	5	2	8	0	0	0			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr17:39412064G>A	uc021txh.1	+	0	429	c.427G>A	c.(427-429)Gcc>Acc	p.A143T		NM_030975	NP_112237	B5MDD6	B5MDD6_HUMAN	Homo sapiens keratin associated protein 9-9 (KRTAP9-9), mRNA.	143						keratin filament				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CTGCCGCCCCGCCTGCTGTGA	0.612													7	413					0	0	1	0	0	A	39412064	G	A	39412064	3	1	41	1	0	0	0	0	1	0	0	0	8577	1087	38	1	429	1	KRTAP9-9	17	39412064	Missense_Mutation	SNP	G	TCGA-DB-A64Q-01A-11D-A29Q-08		39412064	41783146	18	1687											
C17orf77	146723	broad.mit.edu	37	chr17	72588190	72588190	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaatatgggcatggatggAtgaattggcgctgtcatttt	10	14	13	4	1	1	2	1	2	0	0	1	4	1	4	0	4	0	2	0	4	3	4			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr17:72588190A>T	uc002jla.1	+	2	367	c.5A>T	c.(4-6)gAt>gTt	p.D2V	CD300LD_uc002jkz.2_Intron|C17orf77_uc021ucq.1_Missense_Mutation_p.D2V	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN	Homo sapiens chromosome 17 open reading frame 77 (C17orf77), mRNA.	2						extracellular region		p.M1I(1)		breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						GCATGGATGGATGAATTGGCG	0.438													45	124					0	0	1	0	0	T	72588190	A	T	72588190	3	4	41	1	0	0	0	0	1	0	0	0	1882	333	12	5	7	5	C17orf77	17	72588190	Missense_Mutation	SNP	A	TCGA-DB-A64Q-01A-11D-A29Q-08	33176126	72588190	8607020	19	1688											
LLGL2	3993	broad.mit.edu	37	chr17	73570548	73570548	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcaggagtcctgaaggaaAtccagagcacactggaggga	13	5	14	9	0	0	2	0	1	0	1	2	6	2	6	2	4	2	2	2	4	2	0			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr17:73570548A>G	uc002joh.3	+	23	3122	c.2968A>G	c.(2968-2970)Atc>Gtc	p.I990V	LLGL2_uc002joi.3_Intron|LLGL2_uc010dgg.2_Missense_Mutation_p.I990V|LLGL2_uc002joj.3_Intron|LLGL2_uc010wsd.2_Missense_Mutation_p.I617V	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	990					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	p.E989K(1)		NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCTGAAGGAAATCCAGAGCAC	0.697													4	6					0	0	1	0	0	G	73570548	A	G	73570548	3	3	41	1	0	0	0	0	1	0	0	0	8834	101	4	3	3093	3	LLGL2	17	73570548	Missense_Mutation	SNP	A	TCGA-DB-A64Q-01A-11D-A29Q-08	982358	73570548	7624662	20	1689											
LRRC30	339291	broad.mit.edu	37	chr18	7231991	7231991	+	Frame_Shift_Del	DEL	G	G	-																															cctctgccggagctggtggaGgggggcctggagatgctctt																										TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr18:7231991delG	uc010wzk.2	+	0	855	c.855delG	c.(853-855)gagfs	p.E285fs		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	285										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						AGCTGGTGGAGGGGGGCCTGG	0.582													7	402	---	---	---	---						-	7231991	G	-	7231991	7	5	41	1	0	1	0	1	0	0	0	0	8985	991	35	0	857	0	LRRC30	18	7231991	Frame_Shift_Del	DEL	G	TCGA-DB-A64Q-01A-11D-A29Q-08		7231991	70845257	21	1690											
PALM	5064	broad.mit.edu	37	chr19	746735	746735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagggaagagaatcaggCggggcccgaggccaccacca	11	2	14	14	2	1	1	1	0	0	1	2	4	2	2	5	5	0	0	5	5	2	0			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr19:746735C>T	uc002lpm.1	+	8	1279	c.1085C>T	c.(1084-1086)gCg>gTg	p.A362V	PALM_uc002lpn.1_Missense_Mutation_p.A318V|PALM_uc010xfu.1_Missense_Mutation_p.A227V	NM_002579	NP_002570	O75781	PALM_HUMAN	Homo sapiens paralemmin (PALM), transcript variant 1, mRNA.	362					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)|Lung(535;0.201)		GAGAATCAGGCGGGGCCCGAG	0.672													13	10					0	0	1	0	0	T	746735	C	T	746735	3	4	41	1	0	0	0	0	1	0	0	0	11408	768	27	1	1119	1	PALM	19	746735	Missense_Mutation	SNP	C	TCGA-DB-A64Q-01A-11D-A29Q-08		746735	58382248	22	1691											
CIC	23152	broad.mit.edu	37	chr19	42799051	42799051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctgcagttgaagatccGtgaggtgcgccagaagatca	10	10	13	8	2	2	5	1	2	1	3	3	5	3	5	2	1	2	2	2	1	2	2			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr19:42799051G>A	uc002otf.1	+	19	4575	c.4535G>A	c.(4534-4536)cGt>cAt	p.R1512H		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TTGAAGATCCGTGAGGTGCGC	0.627			"Mis, F, S"		oligodendroglioma								53	24					0	0	1	0	0	A	42799051	G	A	42799051	3	1	41	1	0	0	0	0	1	0	0	0	3424	1145	40	1	4613	1	CIC	19	42799051	Missense_Mutation	SNP	G	TCGA-DB-A64Q-01A-11D-A29Q-08	42052316	42799051	16329932	23	1692											
KRTAP19-1	337882	broad.mit.edu	37	chr21	31852407	31852407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctccattgtacgatgggCggcagcagccatatccatag	10	9	10	12	2	0	0	0	0	0	0	3	1	3	0	4	2	3	3	4	2	3	4			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr21:31852407C>T	uc011acx.2	-	0	230	c.230G>A	c.(229-231)cGc>cAc	p.R77H		NM_181607	NP_853638	Q8IUB9	KR191_HUMAN	Homo sapiens keratin associated protein 19-1 (KRTAP19-1), mRNA.	77	26 X 2 AA repeats of G-[YCGS].					intermediate filament		p.R77H(2)		cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GTACGATGGGCGGCAGCAGCC	0.488													16	428					0	0	1	0	0	T	31852407	C	T	31852407	3	4	41	1	0	0	0	0	1	0	0	0	8528	768	27	1	44	1	KRTAP19-1	21	31852407	Missense_Mutation	SNP	C	TCGA-DB-A64Q-01A-11D-A29Q-08		31852407	16277488	24	1693											
SYNJ1	8867	broad.mit.edu	37	chr21	34053835	34053835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttcaagagctccagttcCtgcatatatcttactgattg	9	14	6	12	0	2	2	1	1	1	1	4	2	4	2	3	0	3	3	3	0	4	6			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr21:34053835C>T	uc002yqh.2	-	10	1441	c.1441G>A	c.(1441-1443)Gga>Aga	p.G481R	SYNJ1_uc011ads.1_Missense_Mutation_p.G442R|SYNJ1_uc002yqf.2_Missense_Mutation_p.G442R|SYNJ1_uc002yqg.2_Missense_Mutation_p.G442R|SYNJ1_uc002yqi.2_Missense_Mutation_p.G481R	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	442							RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GCTCCAGTTCCTGCATATATC	0.393													6	129					0	0	1	0	0	T	34053835	C	T	34053835	3	4	41	1	0	0	0	0	1	0	0	0	15449	690	24	3	3519	3	SYNJ1	21	34053835	Missense_Mutation	SNP	C	TCGA-DB-A64Q-01A-11D-A29Q-08	2201428	34053835	14076060	25	1694											
DEPDC5	9681	broad.mit.edu	37	chr22	32211066	32211066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccctaccaagccgcacactgCccactgaggaagtgaggagc	11	4	11	15	1	0	2	0	2	0	0	0	4	0	4	4	2	4	1	4	2	3	1			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr22:32211066C>T	uc011alu.2	+	20	1736	c.1534C>T	c.(1534-1536)Ccc>Tcc	p.P512S	DEPDC5_uc011als.2_Missense_Mutation_p.P512S|DEPDC5_uc003als.3_Missense_Mutation_p.P512S|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Missense_Mutation_p.P512S|DEPDC5_uc003alr.2_Missense_Mutation_p.P512S|DEPDC5_uc011alt.2_Missense_Mutation_p.P484S	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	512					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCGCACACTGCCCACTGAGGA	0.572													4	159					0	0	1	0	0	T	32211066	C	T	32211066	3	4	41	1	0	0	0	0	1	0	0	0	4442	739	26	3	1612	3	DEPDC5	22	32211066	Missense_Mutation	SNP	C	TCGA-DB-A64Q-01A-11D-A29Q-08		32211066	19093500	26	1695											
RGAG4	340526	broad.mit.edu	37	chrX	71351107	71351107	+	Frame_Shift_Del	DEL	T	T	-																															catccgagatacagtcgggcTccgcgcgtgggggaggccgg																										TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chrX:71351107delT	uc010nlh.2	-	0	284	c.284delA	c.(283-285)gagfs	p.E95fs	NHSL2_uc011mqa.2_Intron|RGAG4_uc004eaj.2_Frame_Shift_Del_p.E95fs|NHSL2_uc004eak.1_5'Flank|NHSL2_uc010nli.2_5'Flank	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	Homo sapiens retrotransposon gag domain containing 4 (RGAG4), mRNA.	95										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					ACAGTCGGGCTCCGCGCGTGG	0.647													28	25	---	---	---	---						-	71351107	T	-	71351107	7	5	41	1	0	1	0	1	0	0	0	0	13275	1551	54	0	1429	0	RGAG4	23	71351107	Frame_Shift_Del	DEL	T	TCGA-DB-A64Q-01A-11D-A29Q-08		71351107	83919453	27	1696											
FLNA	2316	broad.mit.edu	37	chrX	153595807	153595807	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcgggttcagtttgggccGcaagggagcccctggcttca	5	10	14	12	2	2	0	2	0	0	0	3	1	2	1	3	4	1	4	3	4	1	4			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chrX:153595807G>A	uc004fkk.2	-	4	1075	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	FLNA_uc010nuu.1_Missense_Mutation_p.R276W	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	276					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGTTTGGGCCGCAAGGGAGCC	0.632													4	123					0	0	1	0	0	A	153595807	G	A	153595807	3	1	41	1	0	0	0	0	1	0	0	0	5933	1086	38	1	7293	1	FLNA	23	153595807	Missense_Mutation	SNP	G	TCGA-DB-A64Q-01A-11D-A29Q-08	82244700	153595807	1674753	28	1697											
NBAS	51594	broad.mit.edu	37	chr2	15564503	15564503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtccataaccttctccaccGtaagctgggtcatcctgaac	10	10	7	14	1	2	1	1	1	1	0	5	1	4	1	5	1	3	2	5	1	3	3	rs144830164		TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr2:15564503G>A	uc002rcc.1	-	22	2539	c.2513C>T	c.(2512-2514)aCg>aTg	p.T838M	NBAS_uc010exl.1_Missense_Mutation_p.T30M|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	838								p.T838T(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CTTCTCCACCGTAAGCTGGGT	0.478													25	26					0	0	1	0	0	A	15564503	G	A	15564503	3	1	42	1	0	0	0	0	1	0	0	0	10186	1145	40	1	4722	1	NBAS	2	15564503	Missense_Mutation	SNP	G	TCGA-DB-A64R-01A-11D-A29Q-08		15564503	227634870	1	1698											
NEB	4703	broad.mit.edu	37	chr2	152483595	152483595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtaaatttcagcttgtccGgaggctggcggtagatgtta	8	13	14	6	2	1	1	1	0	0	1	2	2	2	2	1	5	1	5	1	5	4	5			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr2:152483595G>A	uc021vrb.1	-	64	9568	c.9539C>T	c.(9538-9540)cCg>cTg	p.P3180L	NEB_uc002txu.3_Missense_Mutation_p.P3423L|NEB_uc021vrc.1_Missense_Mutation_p.P3423L|NEB_uc010fnx.3_Missense_Mutation_p.P3168L|NEB_uc021vrd.1_Missense_Mutation_p.P3180L	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3180					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAGCTTGTCCGGAGGCTGGCG	0.502													4	103					0	0	1	0	0	A	152483595	G	A	152483595	3	1	42	1	0	0	0	0	1	0	0	0	10302	1116	39	2	15870	2	NEB	2	152483595	Missense_Mutation	SNP	G	TCGA-DB-A64R-01A-11D-A29Q-08	136919092	152483595	90715778	2	1699											
EVX2	344191	broad.mit.edu	37	chr2	176948214	176948214	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcccggcttcttgcggctCtcggcggcggaggagatttc	3	10	16	12	5	2	1	0	0	2	1	4	3	2	2	1	7	1	2	1	7	0	3			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr2:176948214C>G	uc010zeu.2	-	0	477	c.291G>C	c.(289-291)gaG>gaC	p.E97D		NM_001080458	NP_001073927	Q03828	EVX2_HUMAN	Homo sapiens even-skipped homeobox 2 (EVX2), mRNA.	97						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		TCTTGCGGCTCTCGGCGGCGG	0.642													17	47					0	0	1	0	0	G	176948214	C	G	176948214	3	3	42	1	0	0	0	0	1	0	0	0	5295	912	32	5	1149	5	EVX2	2	176948214	Missense_Mutation	SNP	C	TCGA-DB-A64R-01A-11D-A29Q-08	24464619	176948214	66251159	3	1700											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								18	27					0	0	1	0	0	T	209113112	C	T	209113112	3	4	42	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A64R-01A-11D-A29Q-08	32164898	209113112	34086261	4	1701											
MST1	4485	broad.mit.edu	37	chr3	49723525	49723525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgtcgtctgtacaacgccGgatctggtagcaaaaggccg	10	7	12	12	5	2	0	0	0	2	0	3	1	2	1	2	3	3	3	2	3	5	2			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr3:49723525G>A	uc003cxg.3	-	8	1189	c.1117C>T	c.(1117-1119)Cgg>Tgg	p.R373W	MST1_uc011bcs.1_Silent_p.S411S|MST1_uc010hkx.2_3'UTR|MST1_uc011bct.1_3'UTR	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	359	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTACAACGCCGGATCTGGTAG	0.687													3	31					0	0	1	0	0	A	49723525	G	A	49723525	3	1	42	1	0	0	0	0	1	0	0	0	9890	1115	39	2	1100	2	MST1	3	49723525	Missense_Mutation	SNP	G	TCGA-DB-A64R-01A-11D-A29Q-08		49723525	148298905	5	1702											
ATXN7	6314	broad.mit.edu	37	chr3	63982294	63982295	+	Splice_Site	DEL	AA	AA	-																															cagcttcatggtgtcttcttAaaaaaaaaaaaaaaaaaaaa																								rs71883415		TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr3:63982294_63982295delAA	uc003dlv.3	+	12	3350	c.2797_splice	c.e12+1		ATXN7_uc003dlw.4_Intron|ATXN7_uc021wzy.1_Intron|ATXN7_uc011bfn.2_Intron	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.						cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		GTGTCTTCTTaaaaaaaaaaaa	0.371													3	5	---	---	---	---						-	63982295	AA	-	63982294	8	5	42	1	0	1	0	1	0	0	1	0	1215	377	13	0		0	ATXN7	3	63982294	Splice_Site	DEL	AA	TCGA-DB-A64R-01A-11D-A29Q-08	14258769	63982294	134040136	6	1703											
C5orf34	375444	broad.mit.edu	37	chr5	43506078	43506078	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcactgcttgacccatgtgTatacacatgtgtgctttgta	9	14	9	9	0	0	1	0	1	0	0	0	1	0	1	1	0	4	5	1	0	3	5			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr5:43506078T>C	uc003jnz.2	-	3	1106	c.704A>G	c.(703-705)tAc>tGc	p.Y235C	C5orf34_uc011cpx.2_Missense_Mutation_p.Y121C	NM_198566	NP_940968	Q96MH7	CE034_HUMAN	Homo sapiens chromosome 5 open reading frame 34 (C5orf34), mRNA.	235										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					GACCCATGTGTATACACATGT	0.413													54	70					0	0	1	0	0	C	43506078	T	C	43506078	3	2	42	1	0	0	0	0	1	0	0	0	2293	1638	57	3	1252	3	C5orf34	5	43506078	Missense_Mutation	SNP	T	TCGA-DB-A64R-01A-11D-A29Q-08		43506078	137409182	7	1704											
FARS2	10667	broad.mit.edu	37	chr6	5771549	5771549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagaccagccactgctacCgcatcacgtaccgccacatg	12	5	7	17	3	1	1	1	0	0	1	1	1	1	1	5	0	4	3	5	0	3	2			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr6:5771549C>T	uc010jnv.1	+	6	1579	c.1243C>T	c.(1243-1245)Cgc>Tgc	p.R415C	FARS2_uc003mwr.2_Missense_Mutation_p.R415C	NM_006567	NP_006558	O95363	SYFM_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2), nuclear gene encoding mitochondrial protein, mRNA.	415	FDX-ACB.				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	CCACTGCTACCGCATCACGTA	0.592													28	36					0	0	1	0	0	T	5771549	C	T	5771549	3	4	42	1	0	0	0	0	1	0	0	0	5678	652	23	2	1265	2	FARS2	6	5771549	Missense_Mutation	SNP	C	TCGA-DB-A64R-01A-11D-A29Q-08		5771549	165343518	8	1705											
PNPLA1	285848	broad.mit.edu	37	chr6	36260899	36260899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catccccccgacttaccgcgGtgtggtgagtgcttcggcat	5	10	12	14	4	0	1	0	1	0	0	2	2	1	1	4	3	2	2	4	3	1	2			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr6:36260899G>A	uc010jwf.2	+	2	500	c.500G>A	c.(499-501)gGt>gAt	p.G167D	PNPLA1_uc010jwe.1_Missense_Mutation_p.G72D|PNPLA1_uc003olw.1_Missense_Mutation_p.G72D	NM_001145717	NP_775947	Q8N8W4	PLPL1_HUMAN	Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA.	167	Patatin.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						ACTTACCGCGGTGTGGTGAGT	0.637													4	87					0	0	1	0	0	A	36260899	G	A	36260899	3	1	42	1	0	0	0	0	1	0	0	0	12164	1261	44	3	510	3	PNPLA1	6	36260899	Missense_Mutation	SNP	G	TCGA-DB-A64R-01A-11D-A29Q-08	30489350	36260899	134854168	9	1706											
KHDC1	80759	broad.mit.edu	37	chr6	73951385	73951385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagtgtatggtggcacaCtaatggaggtgaccaggtca	10	9	13	9	0	1	1	1	1	0	0	2	2	2	2	2	5	0	2	2	5	2	2			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr6:73951385C>T	uc003pgo.3	-	4	1082	c.581G>A	c.(580-582)aGt>aAt	p.S194N	KHDC1_uc011dyl.1_Intron|KHDC1_uc003pgn.4_Missense_Mutation_p.S121N	NM_001251874	NP_001238803	Q4VXA5	KHDC1_HUMAN	Homo sapiens KH homology domain containing 1 (KHDC1), transcript variant 1, mRNA.	194						integral to membrane	RNA binding			large_intestine(1)|lung(4)|skin(1)	6						TGGTGGCACACTAATGGAGGT	0.537													4	101					0	0	1	0	0	T	73951385	C	T	73951385	3	4	42	1	0	0	0	0	1	0	0	0	8144	565	20	3	136	3	KHDC1	6	73951385	Missense_Mutation	SNP	C	TCGA-DB-A64R-01A-11D-A29Q-08	37690486	73951385	97163682	10	1707											
ORAI2	80228	broad.mit.edu	37	chr7	102087148	102087148	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactccatcagcgagtccccGcatgagcgcatgcaccccta	10	6	8	17	3	1	1	1	1	0	0	3	2	3	1	5	0	4	3	5	0	2	1	rs140584655		TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr7:102087148G>A	uc010lhz.1	+	3	649	c.414G>A	c.(412-414)ccG>ccA	p.P138P	ORAI2_uc003uzj.2_Silent_p.P138P|ORAI2_uc003uzk.2_Silent_p.P138P|ORAI2_uc011kks.1_Silent_p.P61P	NM_001126340	NP_116220	Q96SN7	ORAI2_HUMAN	Homo sapiens ORAI calcium release-activated calcium modulator 2 (ORAI2), transcript variant 1, mRNA.	138						integral to membrane	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						GCGAGTCCCCGCATGAGCGCA	0.617													5	157					0	0	1	0	0	A	102087148	G	A	102087148	2	1	42	1	0	0	0	0	0	0	0	1	11258	1074	38	1		1	ORAI2	7	102087148	Silent	SNP	G	TCGA-DB-A64R-01A-11D-A29Q-08		102087148	57051515	11	1708											
SLC7A13	157724	broad.mit.edu	37	chr8	87229764	87229764	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattcctatcattaataataTagaccataatgaacccgtga	16	13	4	8	1	1	3	1	2	0	1	2	3	2	3	3	0	1	0	3	0	8	8			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr8:87229764T>G	uc003ydq.1	-	2	1212	c.1114A>C	c.(1114-1116)Ata>Cta	p.I372L	SLC7A13_uc003ydr.1_Missense_Mutation_p.I363L	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	372						integral to membrane	amino acid transmembrane transporter activity	p.I372T(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ATTAATAATATAGACCATAAT	0.323													16	20					0	0	1	0	0	G	87229764	T	G	87229764	3	3	42	1	0	0	0	0	1	0	0	0	14695	1406	49	5	306	5	SLC7A13	8	87229764	Missense_Mutation	SNP	T	TCGA-DB-A64R-01A-11D-A29Q-08		87229764	59134258	12	1709											
CSMD3	114788	broad.mit.edu	37	chr8	113364708	113364708	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaccatatatctgtctccAattttaattccactgctagg	11	14	4	12	0	2	0	0	0	2	0	4	0	3	0	4	1	2	1	4	1	6	6			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr8:113364708A>G	uc003ynu.3	-	38	6351	c.6192T>C	c.(6190-6192)atT>atC	p.I2064I	CSMD3_uc003yns.3_Silent_p.I1266I|CSMD3_uc003ynt.3_Silent_p.I2024I|CSMD3_uc011lhx.2_Silent_p.I1960I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2064	Sushi 11.					integral to membrane|plasma membrane		p.K2063T(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCTGTCTCCAATTTTAATTC	0.328										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			14	32					0	0	1	0	0	G	113364708	A	G	113364708	2	3	42	1	0	0	0	0	0	0	0	1	3946	126	5	3		3	CSMD3	8	113364708	Silent	SNP	A	TCGA-DB-A64R-01A-11D-A29Q-08	26134944	113364708	32999314	13	1710											
KDM4C	23081	broad.mit.edu	37	chr9	6805637	6805637	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagccaagacagtgctaTgatgacattgataatttgct	13	12	10	6	0	0	4	0	3	0	1	0	5	0	5	1	1	3	2	1	1	4	4			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr9:6805637T>G	uc003zkh.3	+	2	763	c.183T>G	c.(181-183)taT>taG	p.Y61*	KDM4C_uc010mhu.2_Nonsense_Mutation_p.Y83*|KDM4C_uc010mhw.3_Nonsense_Mutation_p.Y61*|KDM4C_uc011lmi.1_Nonsense_Mutation_p.Y61*|KDM4C_uc011lmj.1_Non-coding_Transcript|KDM4C_uc003zkg.3_Nonsense_Mutation_p.Y61*|KDM4C_uc011lmk.2_Intron|KDM4C_uc010mhv.3_Nonsense_Mutation_p.Y61*	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	Homo sapiens lysine (K)-specific demethylase 4C (KDM4C), transcript variant 1, mRNA.	61					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						GACAGTGCTATGATGACATTG	0.368													30	34					0	0	1	0	0	G	6805637	T	G	6805637	4	3	42	1	0	0	0	0	0	1	0	0	8130	1471	51	5	259	5	KDM4C	9	6805637	Nonsense_Mutation	SNP	T	TCGA-DB-A64R-01A-11D-A29Q-08		6805637	134407794	14	1711											
UNC13B	10497	broad.mit.edu	37	chr9	35399692	35399692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatctcactccaaagcagtGtgcagtccttgacctcgccc	9	9	8	15	1	1	1	1	1	1	0	5	2	3	1	4	0	2	2	4	0	2	1			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr9:35399692G>A	uc003zwr.3	+	34	4347	c.4055G>A	c.(4054-4056)tGt>tAt	p.C1352Y	UNC13B_uc003zwq.3_Missense_Mutation_p.C1352Y	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	1352	MHD2.				excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CCAAAGCAGTGTGCAGTCCTT	0.522													6	243					0	0	1	0	0	A	35399692	G	A	35399692	3	1	42	1	0	0	0	0	1	0	0	0	16982	1377	48	3	4193	3	UNC13B	9	35399692	Missense_Mutation	SNP	G	TCGA-DB-A64R-01A-11D-A29Q-08	28594055	35399692	105813739	15	1712											
LCN1	3933	broad.mit.edu	37	chr9	138415819	138415819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgcacgggaagccggtccGaggggtgaagctcgtgggtg	6	6	20	9	4	0	1	0	1	0	0	2	3	1	2	2	5	3	3	2	5	2	0			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr9:138415819G>A	uc022bpk.1	+	3	446	c.386G>A	c.(385-387)cGa>cAa	p.R129Q	LCN1_uc022bpj.1_Missense_Mutation_p.R129Q|LCN1_uc004cfz.2_Missense_Mutation_p.R129Q|LCN1_uc004cga.2_Missense_Mutation_p.R129Q	NM_001252618	NP_001239547	P31025	LCN1_HUMAN	Homo sapiens lipocalin 1 (LCN1), transcript variant 3, mRNA.	129					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		AAGCCGGTCCGAGGGGTGAAG	0.642													29	32					0	0	1	0	0	A	138415819	G	A	138415819	3	1	42	1	0	0	0	0	1	0	0	0	8680	1058	37	2	400	2	LCN1	9	138415819	Missense_Mutation	SNP	G	TCGA-DB-A64R-01A-11D-A29Q-08	103016127	138415819	2797612	16	1713											
SLC26A10	65012	broad.mit.edu	37	chr12	58014090	58014090	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggttggacaaggccccctcCccacagcacacctttccatc	9	7	7	18	0	0	0	0	0	0	0	3	1	2	1	6	3	1	2	6	3	1	2			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr12:58014090C>T	uc001spe.3	+	0	398	c.87C>T	c.(85-87)tcC>tcT	p.S29S	BC073932_uc001spc.3_5'Flank|SLC26A10_uc001spf.3_Non-coding_Transcript	NM_133489	NP_597996	Q8NG04	S2610_HUMAN	Homo sapiens solute carrier family 26, member 10 (SLC26A10), mRNA.	29						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					AGGCCCCCTCCCCACAGCACA	0.547													8	518					0	0	1	0	0	T	58014090	C	T	58014090	2	4	42	1	0	0	0	0	0	0	0	1	14515	610	22	3		3	SLC26A10	12	58014090	Silent	SNP	C	TCGA-DB-A64R-01A-11D-A29Q-08		58014090	75837805	17	1714											
CIB2	10518	broad.mit.edu	37	chr15	78401696	78401696	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatcctcggaaaacgccGccacgatcctttctttgaag	10	9	7	15	4	1	1	0	1	1	0	4	3	3	2	5	1	1	0	5	1	3	2	rs147498144		TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr15:78401696G>A	uc010ums.1	-	3	548	c.227C>T	c.(226-228)gCg>gTg	p.A76V	CIB2_uc002bdb.1_Missense_Mutation_p.A76V|CIB2_uc002bdc.1_Missense_Mutation_p.A33V	NM_006383	NP_006374	O75838	CIB2_HUMAN	Homo sapiens calcium and integrin binding family member 2 (CIB2), mRNA.	76	EF-hand 1.						calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						GGAAAACGCCGCCACGATCCT	0.552													12	59					0	0	1	0	0	A	78401696	G	A	78401696	3	1	42	1	0	0	0	0	1	0	0	0	3421	1087	38	1	348	1	CIB2	15	78401696	Missense_Mutation	SNP	G	TCGA-DB-A64R-01A-11D-A29Q-08		78401696	24129696	18	1715											
LOC100132247	100132247	broad.mit.edu	37	chr16	22545540	22545558	+	Frame_Shift_Del	DEL	CGAGCGTCTGCGGGGGCCG	CGAGCGTCTGCGGGGGCCG	-																															gataatatcaagacacctgcCgagcgtctgcgggggccgct																										TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr16:22545540_22545558delCGAGCGTCTGCGGGGGCCG	uc010bxg.3	+	8	1418_1436	c.1236_1254delCGAGCGTCTGCGGGGGCCG	c.(1234-1254)gccgagcgtctgcgggggccgfs	p.A412fs	LOC100132247_uc010vbv.2_Frame_Shift_Del_p.A412fs|LOC100132247_uc021tew.1_Frame_Shift_Del_p.A412fs|LOC100132247_uc010bxi.3_Frame_Shift_Del_p.A393fs|LOC100132247_uc010bxk.3_Frame_Shift_Del_p.A229fs	NM_001135865	NP_001129337			Homo sapiens nuclear pore complex interacting protein related gene (LOC100132247), mRNA.																		AGACACCTGCCGAGCGTCTGCGGGGGCCGCTTCCACCCT	0.562													3	4	---	---	---	---						-	22545558	CGAGCGTCTGCGGGGGCCG	-	22545540	7	5	42	1	0	1	0	1	0	0	0	0	8868	639	23	0	1262	0	LOC100132247	16	22545540	Frame_Shift_Del	DEL	CGAGCGTCTGCGGGGGCCG	TCGA-DB-A64R-01A-11D-A29Q-08		22545540	67809213	19	1716											
OR1A1	8383	broad.mit.edu	37	chr17	3119151	3119151	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctcatcggtaaccatcccTaagatgctggccaaccatct	10	11	6	14	1	2	1	1	0	2	1	5	1	3	1	4	2	3	2	4	2	3	3			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr17:3119151T>C	uc010vrc.2	+	0	237	c.237T>C	c.(235-237)ccT>ccC	p.P79P		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TAACCATCCCTAAGATGCTGG	0.478													4	133					0	0	1	0	0	C	3119151	T	C	3119151	2	2	42	1	0	0	0	0	0	0	0	1	10949	1509	53	4		4	OR1A1	17	3119151	Silent	SNP	T	TCGA-DB-A64R-01A-11D-A29Q-08		3119151	78076059	20	1717											
ACTG1	71	broad.mit.edu	37	chr17	79478017	79478017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatcctgtcggcaatgcccGggtacatggtggtgccgccc	5	8	14	14	3	0	0	0	0	0	0	2	0	1	0	4	4	3	3	4	4	2	1			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr17:79478017G>A	uc002kak.2	-	4	1178	c.920C>T	c.(919-921)cCg>cTg	p.P307L	ACTG1_uc002kag.3_Non-coding_Transcript|ACTG1_uc002kal.2_Missense_Mutation_p.P307L|ACTG1_uc021ufb.1_5'Flank	NM_001199954	NP_001186883	P63261	ACTG_HUMAN	Homo sapiens actin, gamma 1 (ACTG1), transcript variant 1, mRNA.	307					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			GGCAATGCCCGGGTACATGGT	0.607													4	124					0	0	1	0	0	A	79478017	G	A	79478017	3	1	42	1	0	0	0	0	1	0	0	0	196	1116	39	2	215	2	ACTG1	17	79478017	Missense_Mutation	SNP	G	TCGA-DB-A64R-01A-11D-A29Q-08	76358866	79478017	1717193	21	1718											
MYOM1	8736	broad.mit.edu	37	chr18	3134811	3134811	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgggatgattttgccaggagCcttggggatatctgagaaag	10	11	15	5	0	1	2	0	2	1	1	1	6	1	5	2	4	2	0	2	4	2	4			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr18:3134811C>G	uc002klp.3	-	15	2555	c.2221G>C	c.(2221-2223)Gct>Cct	p.A741P	MYOM1_uc002klq.3_Missense_Mutation_p.A741P	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	741	Fibronectin type-III 3.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTGCCAGGAGCCTTGGGGATA	0.428													31	20					0	0	1	0	0	G	3134811	C	G	3134811	3	3	42	1	0	0	0	0	1	0	0	0	10091	739	26	5	2928	5	MYOM1	18	3134811	Missense_Mutation	SNP	C	TCGA-DB-A64R-01A-11D-A29Q-08		3134811	74942437	22	1719											
CNN2	1265	broad.mit.edu	37	chr19	1026680	1026681	+	Frame_Shift_Del	DEL	AC	AC	-																															catgagctccacgcagttcaAcaagggcccctcgtacgggc																										TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr19:1026680_1026681delAC	uc002lqu.3	+	0	383_384	c.20_21delAC	c.(19-21)aacfs	p.N7fs	CNN2_uc002lqt.1_Frame_Shift_Del_p.N7fs|CNN2_uc010drz.1_Frame_Shift_Del_p.N7fs|CNN2_uc002lqv.3_Frame_Shift_Del_p.N7fs|CNN2_uc010xgb.2_Frame_Shift_Del_p.N7fs|CNN2_uc010xgc.2_Frame_Shift_Del_p.N7fs	NM_004368	NP_004359	Q99439	CNN2_HUMAN	Homo sapiens calponin 2 (CNN2), transcript variant 1, mRNA.	7					actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		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)		ACGCAGTTCAACAAGGGCCCCT	0.762													2	4	---	---	---	---						-	1026681	AC	-	1026680	7	5	42	1	0	1	0	1	0	0	0	0	3610	43	2	0	22	0	CNN2	19	1026680	Frame_Shift_Del	DEL	AC	TCGA-DB-A64R-01A-11D-A29Q-08		1026680	58102303	23	1720											
CIC	23152	broad.mit.edu	37	chr19	42799059	42799059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttgaagatccgtgaggtgCgccagaagatcatgcaggct	11	8	14	8	2	1	5	1	2	0	3	2	5	2	5	2	2	2	3	2	2	2	1			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr19:42799059C>T	uc002otf.1	+	19	4583	c.4543C>T	c.(4543-4545)Cgc>Tgc	p.R1515C		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R1515L(1)|p.R1515H(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCGTGAGGTGCGCCAGAAGAT	0.632			"Mis, F, S"		oligodendroglioma								39	7					0	0	1	0	0	T	42799059	C	T	42799059	3	4	42	1	0	0	0	0	1	0	0	0	3424	768	27	1	4621	1	CIC	19	42799059	Missense_Mutation	SNP	C	TCGA-DB-A64R-01A-11D-A29Q-08	41772379	42799059	16329924	24	1721											
DIDO1	11083	broad.mit.edu	37	chr20	61527924	61527924	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaggagcgtctgatattttgCcgaatttgtgaatttggctg	9	15	12	5	2	1	2	0	2	1	0	1	4	1	3	1	2	2	1	1	2	4	5			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr20:61527924C>T	uc002ydr.2	-	6	2325	c.2013G>A	c.(2011-2013)cgG>cgA	p.R671R	DIDO1_uc002yds.2_Silent_p.R671R|DIDO1_uc002ydt.2_Silent_p.R671R|DIDO1_uc002ydu.2_Silent_p.R671R	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	671	TFIIS central.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGATATTTTGCCGAATTTGTG	0.478													4	167					0	0	1	0	0	T	61527924	C	T	61527924	2	4	42	1	0	0	0	0	0	0	0	1	4522	726	26	3		3	DIDO1	20	61527924	Silent	SNP	C	TCGA-DB-A64R-01A-11D-A29Q-08		61527924	1497596	25	1722											
KRTAP10-5	386680	broad.mit.edu	37	chr21	45999779	45999779	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgggcctgcatatggggCggcagaggagggacacggag	9	3	21	8	3	0	1	0	0	0	1	0	4	0	4	1	8	1	2	1	8	1	1			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr21:45999779C>A	uc002zfl.1	-	0	703	c.677G>T	c.(676-678)cGc>cTc	p.R226L	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198694	NP_941967	P60370	KR105_HUMAN	Homo sapiens keratin associated protein 10-5 (KRTAP10-5), mRNA.	226	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GCATATGGGGCGGCAGAGGAG	0.682													7	150					3.09899e-07	3.19583e-07	1	1	0	A	45999779	C	A	45999779	3	1	42	1	0	0	0	0	1	0	0	0	8512	768	27	5	142	5	KRTAP10-5	21	45999779	Missense_Mutation	SNP	C	TCGA-DB-A64R-01A-11D-A29Q-08		45999779	2130116	26	1723											
YY2	404281	broad.mit.edu	37	chrX	21875533	21875533	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccacaccggcgagaagcccTttcagtgcacattcgaaggc	10	7	10	14	3	1	1	1	0	0	1	3	3	2	1	3	2	2	1	3	2	2	2			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chrX:21875533T>C	uc011mjp.2	+	0	1429	c.931T>C	c.(931-933)Ttt>Ctt	p.F311L	MBTPS2_uc004dae.3_Intron|MBTPS2_uc010nfr.3_Intron|MBTPS2_uc004dab.2_Intron	NM_206923	NP_996806	O15391	TYY2_HUMAN	Homo sapiens YY2 transcription factor (YY2), mRNA.	311	Mediates transcriptional repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						CGAGAAGCCCTTTCAGTGCAC	0.557													6	497					0	0	1	0	0	C	21875533	T	C	21875533	3	2	42	1	0	0	0	0	1	0	0	0	17506	1609	56	4	933	4	YY2	23	21875533	Missense_Mutation	SNP	T	TCGA-DB-A64R-01A-11D-A29Q-08		21875533	133395027	27	1724											
SLC35A2	7355	broad.mit.edu	37	chrX	48763802	48763802	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcctcatggaggaagagaAccaggtgcttcacgttacct	11	8	11	11	1	2	1	2	0	0	1	2	4	2	3	3	3	4	2	3	3	3	2			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chrX:48763802A>T	uc011mmm.1	-	3	699	c.377T>A	c.(376-378)gTt>gAt	p.V126D	SLC35A2_uc004dlo.1_Missense_Mutation_p.V98D|SLC35A2_uc011mml.1_Missense_Mutation_p.V111D|SLC35A2_uc004dlp.1_Missense_Mutation_p.V98D|SLC35A2_uc011mmn.1_Missense_Mutation_p.V37D|SLC35A2_uc004dlq.3_Missense_Mutation_p.V98D|SLC35A2_uc004dlr.1_Missense_Mutation_p.V26D|SLC35A2_uc011mmo.1_Missense_Mutation_p.V111D	NM_001042498	NP_001035963	P78381	S35A2_HUMAN	Homo sapiens solute carrier family 35 (UDP-galactose transporter), member A2 (SLC35A2), transcript variant 3, mRNA.	98					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	UDP-galactose transmembrane transporter activity|sugar:hydrogen symporter activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						GAGGAAGAGAACCAGGTGCTT	0.552													18	31					0	0	1	0	0	T	48763802	A	T	48763802	3	4	42	1	0	0	0	0	1	0	0	0	14571	43	2	5	1065	5	SLC35A2	23	48763802	Missense_Mutation	SNP	A	TCGA-DB-A64R-01A-11D-A29Q-08	26888269	48763802	106506758	28	1725											
RENBP	5973	broad.mit.edu	37	chrX	153209006	153209006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctctcacacacctggtaccGcacttcccctgtggctctcc	5	10	6	20	1	2	0	1	0	2	0	5	0	3	0	6	2	1	3	6	2	1	2			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chrX:153209006G>A	uc004fjo.2	-	4	624	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	RENBP_uc011mzh.1_Missense_Mutation_p.R152W	NM_002910	NP_002901	P51606	RENBP_HUMAN	Homo sapiens renin binding protein (RENBP), mRNA.	152					mannose metabolic process|regulation of blood pressure		N-acylglucosamine 2-epimerase activity|endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	ACCTGGTACCGCACTTCCCCT	0.622													35	32					0	0	1	0	0	A	153209006	G	A	153209006	3	1	42	1	0	0	0	0	1	0	0	0	13225	1086	38	1	857	1	RENBP	23	153209006	Missense_Mutation	SNP	G	TCGA-DB-A64R-01A-11D-A29Q-08	104445204	153209006	2061554	29	1726											
TRIT1	54802	broad.mit.edu	37	chr1	40309802	40309802	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgatccccaatgatgattCgatcacagaggtcacacagg	12	7	10	12	3	2	3	2	2	0	1	4	5	3	3	2	2	0	0	2	2	1	1			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr1:40309802C>A	uc021olz.1	-	9	1219	c.1205G>T	c.(1204-1206)cGa>cTa	p.R402L	TRIT1_uc001ced.4_Missense_Mutation_p.R98L|TRIT1_uc001cee.4_Non-coding_Transcript|TRIT1_uc001cef.4_Non-coding_Transcript|TRIT1_uc001ceg.4_Missense_Mutation_p.R156L|TRIT1_uc001ceh.4_Missense_Mutation_p.R156L|TRIT1_uc009vvv.3_Missense_Mutation_p.R235L|TRIT1_uc001cei.4_Missense_Mutation_p.R156L|TRIT1_uc001cec.4_Non-coding_Transcript|TRIT1_uc001ceq.3_Missense_Mutation_p.R98L|TRIT1_uc001cek.3_Missense_Mutation_p.R98L|TRIT1_uc009vvx.3_Non-coding_Transcript|TRIT1_uc001cel.3_Intron|TRIT1_uc001cem.3_Missense_Mutation_p.R320L|TRIT1_uc001cen.3_Missense_Mutation_p.R156L|TRIT1_uc001ceo.3_Missense_Mutation_p.R156L|TRIT1_uc001cep.3_Missense_Mutation_p.R156L	NM_017646	NP_060116	Q9H3H1	MOD5_HUMAN	Homo sapiens tRNA isopentenyltransferase 1 (TRIT1), mRNA.	402					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AATGATGATTCGATCACAGAG	0.448													3	45					0.004672	0.00507826	1	1	0	A	40309802	C	A	40309802	3	1	43	1	0	0	0	0	1	0	0	0	16557	884	31	5	206	5	TRIT1	1	40309802	Missense_Mutation	SNP	C	TCGA-DB-A64S-01A-11D-A29Q-08		40309802	208940819	1	1727											
SCYL3	57147	broad.mit.edu	37	chr1	169845150	169845150	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgagaaactttacaaacaGtttccattcctcctagcttc	11	13	4	13	0	0	1	0	1	0	1	4	2	3	1	4	0	4	2	4	0	4	6			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr1:169845150G>C	uc001ggs.2	-	3	632	c.434C>G	c.(433-435)aCt>aGt	p.T145S	SCYL3_uc001ggt.2_Missense_Mutation_p.T145S	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	Homo sapiens SCY1-like 3 (S. cerevisiae) (SCYL3), transcript variant 2, mRNA.	145	Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTTACAAACAGTTTCCATTCC	0.438													3	50					0	0	1	0	0	C	169845150	G	C	169845150	3	2	43	1	0	0	0	0	1	0	0	0	13949	1029	36	5	1838	5	SCYL3	1	169845150	Missense_Mutation	SNP	G	TCGA-DB-A64S-01A-11D-A29Q-08	129535348	169845150	79405471	2	1728											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr2:209113113G>A	uc002vcs.3	-	3	640	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_uc002vct.3_Missense_Mutation_p.R132C|IDH1_uc002vcu.3_Missense_Mutation_p.R132C	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								16	30					0	0	1	0	0	A	209113113	G	A	209113113	3	1	43	1	0	0	0	0	1	0	0	0	7494	1058	37	2	878	2	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-DB-A64S-01A-11D-A29Q-08		209113113	34086260	3	1729											
EMCN	51705	broad.mit.edu	37	chr4	101331483	101331483	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattcctcaagctgtcagtTcttggtttttccttgtgcag	6	17	9	9	0	3	0	2	0	1	0	5	1	5	0	2	1	2	4	2	1	2	6			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr4:101331483T>C	uc003hvr.3	-	10	960	c.781A>G	c.(781-783)Aac>Gac	p.N261D	EMCN_uc011cel.2_Missense_Mutation_p.N248D|EMCN_uc011cem.2_Missense_Mutation_p.N178D	NM_016242	NP_057326	Q9ULC0	MUCEN_HUMAN	Homo sapiens endomucin (EMCN), transcript variant 1, mRNA.	261						extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		AGCTGTCAGTTCTTGGTTTTT	0.388													18	36					0	0	1	0	0	C	101331483	T	C	101331483	3	2	43	1	0	0	0	0	1	0	0	0	5086	1783	62	3	8	3	EMCN	4	101331483	Missense_Mutation	SNP	T	TCGA-DB-A64S-01A-11D-A29Q-08		101331483	89822793	4	1730											
SLC6A19	340024	broad.mit.edu	37	chr5	1214087	1214087	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcacggagctggcccagcCggacacctggctggacgcgg	6	4	17	14	4	1	0	1	0	0	0	1	3	1	3	3	7	2	2	3	7	0	0	rs148139045	by1000genomes	TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr5:1214087C>A	uc003jbw.4	+	5	850	c.794C>A	c.(793-795)cCg>cAg	p.P265Q		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	265					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTGGCCCAGCCGGACACCTGG	0.657													4	96					0.000602214	0.000684335	1	1	0	A	1214087	C	A	1214087	3	1	43	1	0	0	0	0	1	0	0	0	14682	652	23	5	816	5	SLC6A19	5	1214087	Missense_Mutation	SNP	C	TCGA-DB-A64S-01A-11D-A29Q-08		1214087	179701173	5	1731											
HCN1	348980	broad.mit.edu	37	chr5	45262043	45262043	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcataaatttgaagcaaatcGtggcttttctgcgtctgggt	9	15	10	7	2	3	1	1	1	2	0	4	1	3	1	0	2	2	2	0	2	4	4			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr5:45262043G>A	uc003jok.3	-	7	2678	c.2653C>T	c.(2653-2655)Cga>Tga	p.R885*		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	885						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GAAGCAAATCGTGGCTTTTCT	0.453													37	61					0	0	1	0	0	A	45262043	G	A	45262043	4	1	43	1	0	0	0	0	0	1	0	0	6996	1153	40	1	23	1	HCN1	5	45262043	Nonsense_Mutation	SNP	G	TCGA-DB-A64S-01A-11D-A29Q-08	44047956	45262043	135653217	6	1732											
HTR1B	3351	broad.mit.edu	37	chr6	78172192	78172192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctagggtcttggtggctttgCgctccctagcggccatgagt	4	12	14	11	2	1	1	0	1	1	0	2	1	2	1	2	4	2	2	2	4	2	4			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr6:78172192C>T	uc003pil.1	-	0	929	c.929G>A	c.(928-930)cGc>cAc	p.R310H		NM_000863	NP_000854	P28222	5HT1B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1B (HTR1B), mRNA.	310					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	GGTGGCTTTGCGCTCCCTAGC	0.522													4	169					0	0	1	0	0	T	78172192	C	T	78172192	3	4	43	1	0	0	0	0	1	0	0	0	7437	768	27	1	247	1	HTR1B	6	78172192	Missense_Mutation	SNP	C	TCGA-DB-A64S-01A-11D-A29Q-08		78172192	92942875	7	1733											
INTS1	26173	broad.mit.edu	37	chr7	1510251	1510252	+	Frame_Shift_Del	DEL	CG	CG	-																															atgcaggatcctcagggcctCggagatctgcgcgctggggt																										TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr7:1510251_1510252delCG	uc003skn.2	-	47	6635_6636	c.6534_6535delCG	c.(6532-6537)tccgagfs	p.S2178fs		NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	2178					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTCAGGGCCTCGGAGATCTGCG	0.703													2	4	---	---	---	---						-	1510252	CG	-	1510251	7	5	43	1	0	1	0	1	0	0	0	0	7775	893	31	0	41	0	INTS1	7	1510251	Frame_Shift_Del	DEL	CG	TCGA-DB-A64S-01A-11D-A29Q-08		1510251	157628412	8	1734											
ELN	2006	broad.mit.edu	37	chr7	73474792	73474792	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagttggtgctggtgttcctGgacttggagttggtgctggt	3	15	18	5	0	0	0	0	0	0	0	1	3	1	2	1	6	2	5	1	6	0	4			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr7:73474792G>C	uc003tzw.3	+	24	1817	c.1726G>C	c.(1726-1728)Gga>Cga	p.G576R	ELN_uc003tzn.3_Missense_Mutation_p.G570R|ELN_uc003tzy.3_Missense_Mutation_p.G546R|ELN_uc003tzz.3_Missense_Mutation_p.G489R|ELN_uc003tzo.3_Missense_Mutation_p.G522R|ELN_uc003tzp.3_Missense_Mutation_p.G481R|ELN_uc003tzq.3_Missense_Mutation_p.G434R|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Missense_Mutation_p.G551R|ELN_uc003tzt.3_Missense_Mutation_p.G575R|ELN_uc003tzu.3_Missense_Mutation_p.G556R|ELN_uc003tzv.3_Missense_Mutation_p.G541R|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.G560R|ELN_uc011kff.2_Missense_Mutation_p.G570R	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	599	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TGGTGTTCCTGGACTTGGAGT	0.622			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						4	77					0	0	1	0	0	C	73474792	G	C	73474792	3	2	43	1	0	0	0	0	1	0	0	0	5071	1349	47	5	1821	5	ELN	7	73474792	Missense_Mutation	SNP	G	TCGA-DB-A64S-01A-11D-A29Q-08	71964541	73474792	85663871	9	1735											
MLL5	55904	broad.mit.edu	37	chr7	104730554	104730573	+	Frame_Shift_Del	DEL	AGACCAGACGGAAAAAAGGA	AGACCAGACGGAAAAAAGGA	-																															aaatatcaatagtggttatgAgaccagacggaaaaaaggaa																								rs61743286		TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr7:104730554_104730573delAGACCAGACGGAAAAAAGGA	uc003vcm.3	+	13	1991_2010	c.1457_1476delAGACCAGACGGAAAAAAGGA	c.(1456-1476)gagaccagacggaaaaaaggafs	p.E486fs	MLL5_uc010lja.1_Frame_Shift_Del_p.E340fs|MLL5_uc010ljb.1_Frame_Shift_Del_p.E486fs|MLL5_uc003vcl.3_Frame_Shift_Del_p.E486fs|MLL5_uc010ljc.3_Frame_Shift_Del_p.E486fs|MLL5_uc003vco.1_Non-coding_Transcript|MLL5_uc010ljd.1_3'UTR	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	486					DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						AGTGGTTATGAGACCAGACGGAAAAAAGGAAAAAAAGACA	0.364													12	90	---	---	---	---						-	104730573	AGACCAGACGGAAAAAAGGA	-	104730554	7	5	43	1	0	1	0	1	0	0	0	0	9624	304	11	0	1503	0	MLL5	7	104730554	Frame_Shift_Del	DEL	AGACCAGACGGAAAAAAGGA	TCGA-DB-A64S-01A-11D-A29Q-08	31255762	104730554	54408109	10	1736											
CDHR5	53841	broad.mit.edu	37	chr11	618812	618812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctggttcccatactgggggGcatcggctgagaggttcctg	5	10	16	10	1	0	1	0	1	0	1	3	2	2	1	2	6	1	5	2	6	1	3			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr11:618812G>A	uc001lql.3	-	12	2014	c.1747C>T	c.(1747-1749)Ccc>Tcc	p.P583S	IRF7_uc001lqh.3_5'Flank|IRF7_uc001lqi.3_5'Flank|IRF7_uc010qwh.2_5'Flank|CDHR5_uc001lqj.3_Missense_Mutation_p.P583S|CDHR5_uc009ycd.3_Missense_Mutation_p.P577S|CDHR5_uc001lqk.3_Intron|CDHR5_uc009ycc.3_Missense_Mutation_p.P417S	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA.	583	4 X 31 AA approximate tandem repeats.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						ATACTGGGGGGCATCGGCTGA	0.687													5	164					0	0	1	0	0	A	618812	G	A	618812	3	1	43	1	0	0	0	0	1	0	0	0	3122	1203	42	3	802	3	CDHR5	11	618812	Missense_Mutation	SNP	G	TCGA-DB-A64S-01A-11D-A29Q-08		618812	134387704	11	1737											
RIMBP2	23504	broad.mit.edu	37	chr12	130919389	130919389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggcggcgtactgccccgCgctgcttctctctaggaaga	6	9	13	13	4	2	2	0	1	2	1	3	3	2	3	2	3	3	3	2	3	3	3			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr12:130919389C>T	uc001uil.2	-	10	2308	c.2092G>A	c.(2092-2094)Gcg>Acg	p.A698T	RIMBP2_uc001uim.3_Missense_Mutation_p.A606T	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	698						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TACTGCCCCGCGCTGCTTCTC	0.592													16	65					0	0	1	0	0	T	130919389	C	T	130919389	3	4	43	1	0	0	0	0	1	0	0	0	13363	768	27	1	1102	1	RIMBP2	12	130919389	Missense_Mutation	SNP	C	TCGA-DB-A64S-01A-11D-A29Q-08		130919389	2932506	12	1738											
TP53	7157	broad.mit.edu	37	chr17	7578268	7578268	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatttccttccactcggataAgatgctgaggaggggccaga	11	9	12	9	1	0	3	0	1	0	2	3	5	2	5	3	4	1	1	3	4	2	3			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr17:7578268A>C	uc002gim.2	-	5	775	c.581T>G	c.(580-582)cTt>cGt	p.L194R	TP53_uc002gig.1_Missense_Mutation_p.L194R|TP53_uc002gih.3_Missense_Mutation_p.L194R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.L62R|TP53_uc010cnf.1_Missense_Mutation_p.L62R|TP53_uc002gii.1_Missense_Mutation_p.L62R|TP53_uc010cni.1_Missense_Mutation_p.L194R|TP53_uc010cnh.1_Missense_Mutation_p.L194R|TP53_uc002gij.2_Missense_Mutation_p.L194R|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.L101R|TP53_uc002gio.2_Missense_Mutation_p.L62R|TP53_uc010vug.2_Missense_Mutation_p.L155R	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	194	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.L194R(84)|p.H193R(72)|p.H193L(35)|p.H193Y(27)|p.L194F(18)|p.L194P(16)|p.L194H(14)|p.H193P(14)|p.H193D(9)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.L194L(4)|p.H193N(4)|p.P191_E198>Q(4)|p.H193fs*16(3)|p.L194fs*15(3)|p.H193_I195delHLI(2)|p.P191fs*53(2)|p.L194fs*14(2)|p.L194fs*52(2)|p.H193H(2)|p.H193_I195>AP(2)|p.K164_P219del(1)|p.L194V(1)|p.P191fs*6(1)|p.P59_E66>Q(1)|p.L101H(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.L194I(1)|p.I195fs*52(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)		CACTCGGATAAGATGCTGAGG	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	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)			16	24					0	0	1	0	0	C	7578268	A	C	7578268	3	2	43	1	0	0	0	0	1	0	0	0	16378	72	3	5	713	5	TP53	17	7578268	Missense_Mutation	SNP	A	TCGA-DB-A64S-01A-11D-A29Q-08		7578268	73616942	13	1739											
CD300LB	124599	broad.mit.edu	37	chr17	72522000	72522000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccatggtcacagtgaacGtgcggtctttctgattgtcc	6	13	10	12	2	3	2	1	2	2	0	5	2	5	2	3	2	2	0	3	2	1	2			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr17:72522000G>A	uc002jkx.2	-	1	381	c.368C>T	c.(367-369)aCg>aTg	p.T123M	CD300LB_uc010wqz.1_Missense_Mutation_p.T123M	NM_174892	NP_777552	A8K4G0	CLM7_HUMAN	Homo sapiens CD300 molecule-like family member b (CD300LB), mRNA.	86						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						CACAGTGAACGTGCGGTCTTT	0.522													8	120					0	0	1	0	0	A	72522000	G	A	72522000	3	1	43	1	0	0	0	0	1	0	0	0	2999	1145	40	1	360	1	CD300LB	17	72522000	Missense_Mutation	SNP	G	TCGA-DB-A64S-01A-11D-A29Q-08	64943732	72522000	8673210	14	1740											
FAM47A	158724	broad.mit.edu	37	chrX	34148780	34148780	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgggcggagactggacactCgacgagtcttgggaggctcc	7	6	16	12	4	1	1	0	0	1	1	3	6	2	3	2	5	0	1	2	5	0	1			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chrX:34148780C>T	uc004ddg.3	-	0	1668	c.1616G>A	c.(1615-1617)cGa>cAa	p.R539Q		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	539										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACTGGACACTCGACGAGTCTT	0.642													32	10					0	0	1	0	0	T	34148780	C	T	34148780	3	4	43	1	0	0	0	0	1	0	0	0	5569	884	31	2	763	2	FAM47A	23	34148780	Missense_Mutation	SNP	C	TCGA-DB-A64S-01A-11D-A29Q-08		34148780	121121780	15	1741											
ATRX	546	broad.mit.edu	37	chrX	76888813	76888813	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ataacaccaccatcttcttgCcacctctgcagcatgtagct	10	11	5	15	0	3	0	0	0	3	0	3	0	3	0	4	0	5	4	4	0	2	4			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chrX:76888813C>T	uc004ecp.4	-	18	5248	c.5016G>A	c.(5014-5016)tgG>tgA	p.W1672*	ATRX_uc004ecq.4_Nonsense_Mutation_p.W1634*|ATRX_uc004eco.4_Nonsense_Mutation_p.W1457*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1672	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CATCTTCTTGCCACCTCTGCA	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						57	54					0	0	1	0	0	T	76888813	C	T	76888813	4	4	43	1	0	0	0	0	0	1	0	0	1208	740	26	3	2530	3	ATRX	23	76888813	Nonsense_Mutation	SNP	C	TCGA-DB-A64S-01A-11D-A29Q-08	42740033	76888813	78381747	16	1742											
ATRX	546	broad.mit.edu	37	chrX	76939874	76939874	+	Nonsense_Mutation	SNP	G	G	A																															tatcttcttcttattttgctGcaacaactgttctaaattct																										TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chrX:76939874G>A	uc004ecp.4	-	8	1106	c.874C>T	c.(874-876)Cag>Tag	p.Q292*	ATRX_uc004ecq.4_Nonsense_Mutation_p.Q254*|ATRX_uc004eco.4_Nonsense_Mutation_p.Q77*|ATRX_uc004ecr.2_Nonsense_Mutation_p.Q253*|ATRX_uc010nlx.1_Nonsense_Mutation_p.Q292*|ATRX_uc010nly.1_Nonsense_Mutation_p.Q237*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	292	ADD.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTATTTTGCTGCAACAACTGT	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						8	31					0	0	1	0	0	A	76939874	G	A	76939874	4	1	43	1	0	0	0	0	0	1	0	0	1208	1328	46	3	6712	3	ATRX	23	76939874	Nonsense_Mutation	SNP	G	TCGA-DB-A64S-01A-11D-A29Q-08	51061	76939874	78330686	17	1743	6	2									
ATRX	546	broad.mit.edu	37	chrX	76939882	76939890	+	In_Frame_Del	DEL	TGTTCTAAA	TGTTCTAAA	-																															tcttattttgctgcaacaacTgttctaaattctcaaatacg																										TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chrX:76939882_76939890delTGTTCTAAA	uc004ecp.4	-	8	1090_1098	c.858_866delTTTAGAACA	c.(856-867)aatttagaacag>aag	p.286_289NLEQ>K	ATRX_uc004ecq.4_In_Frame_Del_p.248_251NLEQ>K|ATRX_uc004eco.4_In_Frame_Del_p.71_74NLEQ>K|ATRX_uc004ecr.2_In_Frame_Del_p.247_250NLEQ>K|ATRX_uc010nlx.1_In_Frame_Del_p.286_289NLEQ>K|ATRX_uc010nly.1_In_Frame_Del_p.231_234NLEQ>K	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	286	ADD.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTGCAACAACTGTTCTAAATTCTCAAATA	0.354			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						14	45	---	---	---	---						-	76939890	TGTTCTAAA	-	76939882	7	5	43	1	0	1	0	1	0	0	0	0	1208	1580	55	0	6720	0	ATRX	23	76939882	In_Frame_Del	DEL	TGTTCTAAA	TCGA-DB-A64S-01A-11D-A29Q-08	8	76939882	78330678	18	1744	6	2									
EMILIN1	11117	broad.mit.edu	37	chr2	27305238	27305238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctcaacaaccatcatggcGgcagcagcagcagtgggggc	11	4	13	13	1	2	0	2	0	0	0	2	0	2	0	2	4	5	4	2	4	2	0			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr2:27305238G>A	uc002rii.4	+	3	1298	c.799G>A	c.(799-801)Ggc>Agc	p.G267S	EMILIN1_uc010eyq.2_Missense_Mutation_p.G267S|EMILIN1_uc002rik.4_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	Homo sapiens elastin microfibril interfacer 1 (EMILIN1), mRNA.	267					cell adhesion	collagen		p.G267D(1)		breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATCATGGCGGCAGCAGCAG	0.672													18	42					0	0	1	0	0	A	27305238	G	A	27305238	3	1	44	1	0	0	0	0	1	0	0	0	5093	1116	39	2	813	2	EMILIN1	2	27305238	Missense_Mutation	SNP	G	TCGA-DB-A64U-01A-11D-A29Q-08		27305238	215894135	1	1745											
FBXO11	80204	broad.mit.edu	37	chr2	48035296	48035297	+	Frame_Shift_Del	DEL	AG	AG	-																															ttagattctataggtggagcAgagtcatatagtgtatctgt																										TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr2:48035296_48035297delAG	uc002rwe.3	-	22	2817_2818	c.2744_2745delCT	c.(2743-2745)tctfs	p.S915fs	FBXO11_uc010fbl.3_Frame_Shift_Del_p.S831fs|FBXO11_uc010fbk.3_Frame_Shift_Del_p.S339fs	NM_001190274	NP_001177203	Q86XK2	FBX11_HUMAN	Homo sapiens F-box protein 11 (FBXO11), transcript variant 4, mRNA.	915					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TAGGTGGAGCAGAGTCATATAG	0.381			"Mis, F, D"		DLBCL								12	139	---	---	---	---						-	48035297	AG	-	48035296	7	5	44	1	0	1	0	1	0	0	0	0	5727	175	7	0	42	0	FBXO11	2	48035296	Frame_Shift_Del	DEL	AG	TCGA-DB-A64U-01A-11D-A29Q-08	20730058	48035296	195164077	2	1746											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								8	38					0	0	1	0	0	T	209113112	C	T	209113112	3	4	44	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A64U-01A-11D-A29Q-08	161077816	209113112	34086261	3	1747											
PDE6B	5158	broad.mit.edu	37	chr4	663881	663881	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcacccaagtcttcaacCtgctgtatcctgtgagcact	9	10	7	15	0	2	1	1	1	1	0	3	1	3	1	4	0	4	4	4	0	3	2			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr4:663881C>A	uc003gap.3	+	21	2603	c.2550C>A	c.(2548-2550)acC>acA	p.T850T	PDE6B_uc003gao.4_Silent_p.T849T|PDE6B_uc011buy.2_Silent_p.T571T|PDE6B_uc011buz.2_Silent_p.T281T	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	850					GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						AGTCTTCAACCTGCTGTATCC	0.532													38	112					4.92203e-23	5.35003e-23	1	1	0	A	663881	C	A	663881	2	1	44	1	0	0	0	0	0	0	0	1	11646	668	24	5		5	PDE6B	4	663881	Silent	SNP	C	TCGA-DB-A64U-01A-11D-A29Q-08		663881	190490395	4	1748											
C6orf136	221545	broad.mit.edu	37	chr6	30618837	30618837	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgtggaattcatcaatGagatcctcaacatacgtacc	13	11	8	9	1	3	1	3	1	0	1	4	4	4	3	2	2	3	1	2	2	5	3			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr6:30618837G>T	uc003nqx.4	+	2	1277	c.1084G>T	c.(1084-1086)Gag>Tag	p.E362*	C6orf136_uc003nqw.4_Nonsense_Mutation_p.E181*|C6orf136_uc011dmn.2_Nonsense_Mutation_p.E47*	NM_001161376	NP_001154848	Q5SQH8	CF136_HUMAN	Homo sapiens chromosome 6 open reading frame 136 (C6orf136), transcript variant 3, mRNA.	181										endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						ATTCATCAATGAGATCCTCAA	0.488													4	93					1	1	1	1	0	T	30618837	G	T	30618837	4	4	44	1	0	0	0	0	0	1	0	0	2331	1291	45	5	1094	5	C6orf136	6	30618837	Nonsense_Mutation	SNP	G	TCGA-DB-A64U-01A-11D-A29Q-08		30618837	140496230	5	1749											
EHMT2	10919	broad.mit.edu	37	chr6	31848860	31848860	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagcatcagagatcagctcCccgacatacctgtgggacag	11	7	10	13	1	3	1	3	0	0	1	4	4	4	2	3	1	3	2	3	1	1	1			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr6:31848860C>T	uc003nxz.1	-	25	3217	c.3207G>A	c.(3205-3207)ggG>ggA	p.G1069G	EHMT2_uc003nxx.1_Silent_p.G267G|EHMT2_uc003nxy.1_Silent_p.G867G|EHMT2_uc011don.1_Silent_p.G1092G|EHMT2_uc003nya.1_Silent_p.G1035G|SLC44A4_uc010jti.3_5'Flank|SLC44A4_uc011dom.2_5'Flank	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	1069	SET.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						AGATCAGCTCCCCGACATACC	0.532													21	60					0	0	1	0	0	T	31848860	C	T	31848860	2	4	44	1	0	0	0	0	0	0	0	1	4984	610	22	3		3	EHMT2	6	31848860	Silent	SNP	C	TCGA-DB-A64U-01A-11D-A29Q-08	1230023	31848860	139266207	6	1750											
SNX14	57231	broad.mit.edu	37	chr6	86237978	86237978	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attaatacagttgatgttatAcctgtagatattcttggaac	13	16	7	5	0	1	2	0	1	1	1	1	3	1	3	1	1	3	3	1	1	7	9			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr6:86237978A>G	uc003pkr.3	-	20	2188	c.1995_splice	c.e20+1	p.Q665_splice	SNX14_uc003pkp.3_Splice_Site_p.Q528_splice|SNX14_uc003pkq.3_Splice_Site_p.Q271_splice|SNX14_uc011dzg.2_Splice_Site_p.Q613_splice|SNX14_uc003pks.3_Splice_Site_p.Q612_splice|SNX14_uc003pkt.3_Splice_Site_p.Q656_splice	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	Homo sapiens sorting nexin 14 (SNX14), transcript variant 1, mRNA.	665	PX.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TTGATGTTATACCTGTAGATA	0.343													7	70					0	0	1	0	0	G	86237978	A	G	86237978	5	3	44	1	0	0	0	0	0	0	1	0	14885	405	14	3	883	3	SNX14	6	86237978	Splice_Site	SNP	A	TCGA-DB-A64U-01A-11D-A29Q-08	54389118	86237978	84877089	7	1751											
SERAC1	84947	broad.mit.edu	37	chr6	158537270	158537270	+	Frame_Shift_Del	DEL	C	C	-																															tatccccaacaccagcagctCtgagcttcctaagaagttcg																										TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr6:158537270delC	uc003qrc.2	-	13	1590	c.1448delG	c.(1447-1449)agafs	p.R483fs	SERAC1_uc003qrb.2_Frame_Shift_Del_p.R211fs	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN	Homo sapiens serine active site containing 1 (SERAC1), mRNA.	483					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		ACCAGCAGCTCTGAGCTTCCT	0.448													25	39	---	---	---	---						-	158537270	C	-	158537270	7	5	44	1	0	1	0	1	0	0	0	0	14074	913	32	0	532	0	SERAC1	6	158537270	Frame_Shift_Del	DEL	C	TCGA-DB-A64U-01A-11D-A29Q-08	72299292	158537270	12577797	8	1752											
C11orf41	25758	broad.mit.edu	37	chr11	33628229	33628229	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggagcggttctatttgacaActccagcaaggtggccgctg	8	9	14	10	2	1	1	0	1	1	0	2	2	2	2	2	4	3	3	2	4	3	3			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr11:33628229A>G	uc021qfs.1	+	12	4155	c.4031A>G	c.(4030-4032)aAc>aGc	p.N1344S		NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	1344						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						CTATTTGACAACTCCAGCAAG	0.542													15	34					0	0	1	0	0	G	33628229	A	G	33628229	3	3	44	1	0	0	0	0	1	0	0	0	1640	43	2	3	4099	3	C11orf41	11	33628229	Missense_Mutation	SNP	A	TCGA-DB-A64U-01A-11D-A29Q-08		33628229	101378287	9	1753											
ZW10	9183	broad.mit.edu	37	chr11	113608372	113608372	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagccttgcaatatatattCactggcaggacatcctgcca	12	11	7	11	0	1	0	1	0	0	0	2	1	2	1	3	2	3	2	3	2	5	6			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr11:113608372C>A	uc001poe.3	-	13	2035	c.1938G>T	c.(1936-1938)gtG>gtT	p.V646V	ZW10_uc009yyv.3_Non-coding_Transcript	NM_004724	NP_004715	O43264	ZW10_HUMAN	Homo sapiens ZW10, kinetochore associated, homolog (Drosophila) (ZW10), mRNA.	646					ER to Golgi vesicle-mediated transport|cell division|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	p.V646V(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		AATATATATTCACTGGCAGGA	0.418													72	33					1.49723e-40	1.7014e-40	1	1	0	A	113608372	C	A	113608372	2	1	44	1	0	0	0	0	0	0	0	1	18244	813	29	5		5	ZW10	11	113608372	Silent	SNP	C	TCGA-DB-A64U-01A-11D-A29Q-08	79980143	113608372	21398144	10	1754											
EFCAB4B	84766	broad.mit.edu	37	chr12	3788091	3788091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccacttactcttccaacaCcttttgggctccaagtctgt	8	13	5	15	0	2	0	0	0	2	0	4	0	4	0	4	1	2	1	4	1	3	4			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr12:3788091C>T	uc010sen.1	-	5	1086	c.514G>A	c.(514-516)Gtg>Atg	p.V172M	EFCAB4B_uc001qmj.2_Missense_Mutation_p.V172M	NM_001144958	NP_001138430	Q9BSW2	EFC4B_HUMAN	Homo sapiens EF-hand calcium binding domain 4B (EFCAB4B), transcript variant 1, mRNA.	172					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TCTTCCAACACCTTTTGGGCT	0.498													6	109					0	0	1	0	0	T	3788091	C	T	3788091	3	4	44	1	0	0	0	0	1	0	0	0	4937	507	18	3	1933	3	EFCAB4B	12	3788091	Missense_Mutation	SNP	C	TCGA-DB-A64U-01A-11D-A29Q-08		3788091	130063804	11	1755											
PDE3A	5139	broad.mit.edu	37	chr12	20786709	20786709	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccactcggacaccaagtagaAcaggtaattcattgttttgg	12	11	9	9	1	1	1	1	0	0	1	2	2	1	2	2	3	1	3	2	3	4	6	rs113434458		TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr12:20786709A>G	uc001reh.2	+	6	1883	c.1843A>G	c.(1843-1845)Aca>Gca	p.T615A	PDE3A_uc021qwa.1_Missense_Mutation_p.T293A	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	615					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	ACCAAGTAGAACAGGTAATTC	0.413													12	28					0	0	1	0	0	G	20786709	A	G	20786709	3	3	44	1	0	0	0	0	1	0	0	0	11637	43	2	3	1869	3	PDE3A	12	20786709	Missense_Mutation	SNP	A	TCGA-DB-A64U-01A-11D-A29Q-08	16998618	20786709	113065186	12	1756											
HSPB8	26353	broad.mit.edu	37	chr12	119617317	119617317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccaggcaccctaaggtcggGcatggtgccccggggcccca	6	4	15	16	2	0	0	0	0	0	0	1	0	0	0	6	6	1	2	6	6	1	1			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr12:119617317G>A	uc001txb.3	+	0	723	c.200G>A	c.(199-201)gGc>gAc	p.G67D		NM_014365	NP_055180	Q9UJY1	HSPB8_HUMAN	Homo sapiens heat shock 22kDa protein 8 (HSPB8), mRNA.	67			G -> S (in a glioblastoma multiforme sample; somatic mutation).		cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity	p.G67S(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTAAGGTCGGGCATGGTGCCC	0.692													4	121					0	0	1	0	0	A	119617317	G	A	119617317	3	1	44	1	0	0	0	0	1	0	0	0	7423	1203	42	3	202	3	HSPB8	12	119617317	Missense_Mutation	SNP	G	TCGA-DB-A64U-01A-11D-A29Q-08	98830608	119617317	14234578	13	1757											
KRTAP4-2	85291	broad.mit.edu	37	chr17	39334308	39334308	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacacacagcagctggggcGgcagcaggtggtcctgcagc	8	4	17	12	1	0	0	0	0	0	0	1	1	1	1	1	6	5	5	1	6	0	0			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr17:39334308G>A	uc002hwd.3	-	0	153	c.109C>T	c.(109-111)Cgc>Tgc	p.R37C		NM_033062	NP_149051	Q9BYR5	KRA42_HUMAN	Homo sapiens keratin associated protein 4-2 (KRTAP4-2), mRNA.	37	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CAGCTGGGGCGGCAGCAGGTG	0.657													5	208					0	0	1	0	0	A	39334308	G	A	39334308	3	1	44	1	0	0	0	0	1	0	0	0	8551	1116	39	2	305	2	KRTAP4-2	17	39334308	Missense_Mutation	SNP	G	TCGA-DB-A64U-01A-11D-A29Q-08		39334308	41860902	14	1758											
SEC14L1	6397	broad.mit.edu	37	chr17	75190803	75190803	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcgccaattagaagaagaAggcataacctttgtgccccg	12	9	9	11	2	0	3	0	0	0	3	1	3	0	3	4	1	2	1	4	1	6	4			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr17:75190803A>G	uc010dhc.3	+	6	839	c.519A>G	c.(517-519)gaA>gaG	p.E173E	SEC14L1_uc021udv.1_Silent_p.E173E|SEC14L1_uc021udw.1_Silent_p.E173E|SEC14L1_uc021udx.1_Silent_p.E173E|SEC14L1_uc002jto.3_Silent_p.E173E|SEC14L1_uc010wth.2_Silent_p.E173E|SEC14L1_uc002jtm.3_Silent_p.E173E|SEC14L1_uc010wti.2_Silent_p.E139E	NM_001039573	NP_001191337	Q92503	S14L1_HUMAN	Homo sapiens SEC14-like 1 (S. cerevisiae) (SEC14L1), transcript variant 2, mRNA.	173	PRELI/MSF1.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TAGAAGAAGAAGGCATAACCT	0.423													15	105					0	0	1	0	0	G	75190803	A	G	75190803	2	3	44	1	0	0	0	0	0	0	0	1	13981	69	3	4		4	SEC14L1	17	75190803	Silent	SNP	A	TCGA-DB-A64U-01A-11D-A29Q-08	35856495	75190803	6004407	15	1759											
FSD1	79187	broad.mit.edu	37	chr19	4310577	4310577	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcggcagatgctacaggcActcaagttcctgcctggtga	9	8	13	11	1	1	2	1	1	0	1	2	3	2	2	2	3	4	4	2	3	2	2			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr19:4310577A>G	uc002lzy.2	+	5	627	c.474A>G	c.(472-474)gcA>gcG	p.A158A	FSD1_uc010xie.2_Silent_p.A145A|FSD1_uc010xif.2_3'UTR|FSD1_uc002maa.2_5'Flank	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 1 (FSD1), mRNA.	158	COS.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTACAGGCACTCAAGTTCC	0.587													37	74					0	0	1	0	0	G	4310577	A	G	4310577	2	3	44	1	0	0	0	0	0	0	0	1	6070	146	6	3		3	FSD1	19	4310577	Silent	SNP	A	TCGA-DB-A64U-01A-11D-A29Q-08		4310577	54818406	16	1760											
CIC	23152	broad.mit.edu	37	chr19	42799051	42799051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctgcagttgaagatccGtgaggtgcgccagaagatca	10	10	13	8	2	2	5	1	2	1	3	3	5	3	5	2	1	2	2	2	1	2	2			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr19:42799051G>A	uc002otf.1	+	19	4575	c.4535G>A	c.(4534-4536)cGt>cAt	p.R1512H		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TTGAAGATCCGTGAGGTGCGC	0.627			"Mis, F, S"		oligodendroglioma								34	38					0	0	1	0	0	A	42799051	G	A	42799051	3	1	44	1	0	0	0	0	1	0	0	0	3424	1145	40	1	4613	1	CIC	19	42799051	Missense_Mutation	SNP	G	TCGA-DB-A64U-01A-11D-A29Q-08	38488474	42799051	16329932	17	1761											
CTPS2	56474	broad.mit.edu	37	chrX	16608918	16608918	+	Nonstop_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagtcatgtattcatttcAgcttatttccaactcagcta	10	15	4	12	0	4	0	4	0	0	0	5	0	5	0	2	0	3	3	2	0	4	6			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chrX:16608918A>T	uc004cxk.3	-	17	2503	c.1759T>A	c.(1759-1761)Tga>Aga	p.*587R	CTPS2_uc004cxl.3_Nonstop_Mutation_p.*587R|CTPS2_uc004cxm.3_Nonstop_Mutation_p.*587R	NM_001144002	NP_787055	Q9NRF8	PYRG2_HUMAN	Homo sapiens CTP synthase II (CTPS2), transcript variant 3, mRNA.	0					glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					TATTCATTTCAGCTTATTTCC	0.413													15	36					0	0	1	0	0	T	16608918	A	T	16608918	4	4	44	1	0	0	0	0	0	0	0	0	4023	201	7	5	5	5	CTPS2	23	16608918	Nonstop_Mutation	SNP	A	TCGA-DB-A64U-01A-11D-A29Q-08		16608918	138661642	18	1762											
HIVEP3	59269	broad.mit.edu	37	chr1	42046935	42046935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagggaggaagtgggggCatggagtatggtgaggacag	12	5	22	2	0	0	1	0	1	0	0	0	6	0	6	0	8	0	2	0	8	3	1			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr1:42046935C>T	uc001cgz.4	-	3	4747	c.3534G>A	c.(3532-3534)atG>atA	p.M1178I	HIVEP3_uc001cha.4_Missense_Mutation_p.M1178I|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1178					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GAAGTGGGGGCATGGAGTATG	0.577													7	118					0	0	1	0	0	T	42046935	C	T	42046935	3	4	45	1	0	0	0	0	1	0	0	0	7188	710	25	3	3710	3	HIVEP3	1	42046935	Missense_Mutation	SNP	C	TCGA-DB-A64V-01A-11D-A29Q-08		42046935	207203686	1	1763											
FUBP1	8880	broad.mit.edu	37	chr1	78430553	78430553	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaagtataaagttaagtttActtgaactttatatgggtct	14	17	7	3	0	1	1	0	1	1	0	1	1	1	1	0	1	2	3	0	1	10	10			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr1:78430553A>G	uc001dii.3	-	9	824	c.735_splice	c.e9+1	p.Q245_splice	FUBP1_uc001dih.4_Splice_Site|FUBP1_uc010orm.2_Splice_Site_p.Q266_splice	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	245	KH 2.				transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AGTTAAGTTTACTTGAACTTT	0.368			"F, N"		oligodendroglioma								5	46					0	0	1	0	0	G	78430553	A	G	78430553	5	3	45	1	0	0	0	0	0	0	1	0	6092	405	14	3	1245	3	FUBP1	1	78430553	Splice_Site	SNP	A	TCGA-DB-A64V-01A-11D-A29Q-08	36383618	78430553	170820068	2	1764											
FDPS	2224	broad.mit.edu	37	chr1	155279639	155279639	+	Frame_Shift_Del	DEL	G	G	-																															cctgctgccagccccctactGggcaccccgggagaggtggc																										TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr1:155279639delG	uc001fkc.2	+	1	278	c.59delG	c.(58-60)tggfs	p.W20fs	FDPS_uc021paw.1_Intron|FDPS_uc001fkd.2_Intron|FDPS_uc021pax.1_Intron|FDPS_uc001fke.2_Frame_Shift_Del_p.W20fs	NM_002004	NP_001229754	P14324	FPPS_HUMAN	Homo sapiens farnesyl diphosphate synthase (FDPS), transcript variant 1, mRNA.	20					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	GCCCCCTACTGGGCACCCCGG	0.687													2	4	---	---	---	---						-	155279639	G	-	155279639	7	5	45	1	0	1	0	1	0	0	0	0	5803	1357	47	0	61	0	FDPS	1	155279639	Frame_Shift_Del	DEL	G	TCGA-DB-A64V-01A-11D-A29Q-08	76849086	155279639	93970982	3	1765											
OR10X1	128367	broad.mit.edu	37	chr1	158548933	158548933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaggcacaggtggtgaaggCcttctgcttgccctcagctg	6	9	15	11	0	2	1	1	1	1	0	2	2	2	2	2	5	3	3	2	5	1	2			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr1:158548933C>T	uc010pin.2	-	0	757	c.757G>A	c.(757-759)Gcc>Acc	p.A253T		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GTGGTGAAGGCCTTCTGCTTG	0.483													19	123					0	0	1	0	0	T	158548933	C	T	158548933	3	4	45	1	0	0	0	0	1	0	0	0	10922	739	26	3	218	3	OR10X1	1	158548933	Missense_Mutation	SNP	C	TCGA-DB-A64V-01A-11D-A29Q-08	3269294	158548933	90701688	4	1766											
POLR1A	25885	broad.mit.edu	37	chr2	86302160	86302160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccttactcacaatttttGtcccctggggcttaggtgcc	5	14	9	13	0	1	0	1	0	0	0	2	0	2	0	4	3	3	1	4	3	3	4			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr2:86302160G>A	uc002sqs.3	-	11	1983	c.1604C>T	c.(1603-1605)aCa>aTa	p.T535I		NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	535					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CACAATTTTTGTCCCCTGGGG	0.632													3	12					0	0	1	0	0	A	86302160	G	A	86302160	3	1	45	1	0	0	0	0	1	0	0	0	12209	1377	48	3	3650	3	POLR1A	2	86302160	Missense_Mutation	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08		86302160	156897213	5	1767											
SNRNP200	23020	broad.mit.edu	37	chr2	96956065	96956065	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaagcagtcctcccctaccTtggcattctggacatttcct	8	12	6	15	0	1	0	0	0	1	0	4	1	4	1	5	2	2	2	5	2	2	4			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr2:96956065T>C	uc002svu.3	-	20	2874	c.2742_splice	c.e20+1	p.K914_splice		NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	914	Helicase C-terminal 1.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CTCCCCTACCTTGGCATTCTG	0.532													18	128					0	0	1	0	0	C	96956065	T	C	96956065	5	2	45	1	0	0	0	0	0	0	1	0	14852	1623	56	4	3773	4	SNRNP200	2	96956065	Splice_Site	SNP	T	TCGA-DB-A64V-01A-11D-A29Q-08	10653905	96956065	146243308	6	1768											
TANC1	85461	broad.mit.edu	37	chr2	160075851	160075851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagggcacttgagcaccGtggaattcctcctttcaaaa	11	10	10	10	1	1	2	1	2	0	0	3	3	3	3	3	2	1	2	3	2	4	3			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr2:160075851G>A	uc002uag.3	+	20	3755	c.3481G>A	c.(3481-3483)Gtg>Atg	p.V1161M	TANC1_uc010zcm.2_Missense_Mutation_p.V1153M|TANC1_uc010fom.1_Missense_Mutation_p.V967M|TANC1_uc010fon.3_5'UTR	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	1161						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CTTGAGCACCGTGGAATTCCT	0.522													4	114					0	0	1	0	0	A	160075851	G	A	160075851	3	1	45	1	0	0	0	0	1	0	0	0	15541	1145	40	1	3555	1	TANC1	2	160075851	Missense_Mutation	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08	63119786	160075851	83123522	7	1769											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								16	39					0	0	1	0	0	T	209113112	C	T	209113112	3	4	45	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A64V-01A-11D-A29Q-08	49037261	209113112	34086261	8	1770											
PIKFYVE	200576	broad.mit.edu	37	chr2	209169012	209169012	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacagtgacacagaacagAtagctgaagaaggtgacgat	17	6	12	6	1	0	7	0	4	0	3	0	8	0	7	0	1	2	1	0	1	4	1			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr2:209169012A>G	uc002vcz.3	+	10	1596	c.1438A>G	c.(1438-1440)Ata>Gta	p.I480V	PIKFYVE_uc010fun.1_Missense_Mutation_p.I161V|PIKFYVE_uc002vcy.1_Missense_Mutation_p.I480V|PIKFYVE_uc002vcw.3_Missense_Mutation_p.I480V|PIKFYVE_uc002vcv.3_Missense_Mutation_p.I383V|PIKFYVE_uc002vcx.3_Missense_Mutation_p.I394V	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	480					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CACAGAACAGATAGCTGAAGA	0.403													18	52					0	0	1	0	0	G	209169012	A	G	209169012	3	3	45	1	0	0	0	0	1	0	0	0	11924	333	12	3	1476	3	PIKFYVE	2	209169012	Missense_Mutation	SNP	A	TCGA-DB-A64V-01A-11D-A29Q-08	55900	209169012	34030361	9	1771											
ZNF445	353274	broad.mit.edu	37	chr3	44496823	44496823	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagagttcccggagccggctCagagtttctaggggccctga	7	8	14	12	2	2	3	1	1	1	2	3	4	3	4	3	4	1	3	3	4	1	3			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr3:44496823C>T	uc003cnf.2	-	2	567	c.219G>A	c.(217-219)ctG>ctA	p.L73L	ZNF445_uc011azv.1_Silent_p.L73L|ZNF445_uc011azw.1_Silent_p.L73L|ZNF445_uc021wwo.1_Silent_p.L73L	NM_181489	NP_852466	P59923	ZN445_HUMAN	Homo sapiens zinc finger protein 445 (ZNF445), mRNA.	73	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GGAGCCGGCTCAGAGTTTCTA	0.607													6	115					0	0	1	0	0	T	44496823	C	T	44496823	2	4	45	1	0	0	0	0	0	0	0	1	17915	813	29	3		3	ZNF445	3	44496823	Silent	SNP	C	TCGA-DB-A64V-01A-11D-A29Q-08		44496823	153525607	10	1772											
FLNB	2317	broad.mit.edu	37	chr3	58111408	58111408	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagccatctagggtgcaagcCcaaggacctggattgaaaga	13	6	12	10	0	1	2	0	1	1	1	1	4	1	4	3	3	3	1	3	3	4	2			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr3:58111408C>T	uc003djj.2	+	22	4164	c.3999C>T	c.(3997-3999)gcC>gcT	p.A1333A	FLNB_uc010hne.2_Silent_p.A1333A|FLNB_uc003djk.2_Silent_p.A1333A|FLNB_uc010hnf.2_Silent_p.A1333A|FLNB_uc003djl.2_Silent_p.A1164A|FLNB_uc003djm.2_Silent_p.A1164A	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1333	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGGTGCAAGCCCAAGGACCTG	0.522													6	109					0	0	1	0	0	T	58111408	C	T	58111408	2	4	45	1	0	0	0	0	0	0	0	1	5934	610	22	3		3	FLNB	3	58111408	Silent	SNP	C	TCGA-DB-A64V-01A-11D-A29Q-08	13614585	58111408	139911022	11	1773											
ZBTB20	26137	broad.mit.edu	37	chr3	114058203	114058203	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcactcctgtgtgtgtcacCatgtgcttgataaggtaatc	8	14	9	10	0	2	1	2	1	0	0	4	1	3	1	2	1	1	2	2	1	2	3			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr3:114058203C>G	uc003ebi.3	-	4	2055	c.1875G>C	c.(1873-1875)atG>atC	p.M625I	ZBTB20_uc003ebj.3_Missense_Mutation_p.M552I|ZBTB20_uc010hqp.3_Missense_Mutation_p.M552I|ZBTB20_uc003ebk.3_Missense_Mutation_p.M552I|ZBTB20_uc003ebl.3_Missense_Mutation_p.M552I|ZBTB20_uc003ebm.3_Missense_Mutation_p.M552I|ZBTB20_uc003ebn.3_Missense_Mutation_p.M552I	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	625					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGTGTCACCATGTGCTTGA	0.537													27	78					0	0	1	0	0	G	114058203	C	G	114058203	3	3	45	1	0	0	0	0	1	0	0	0	17526	594	21	5	354	5	ZBTB20	3	114058203	Missense_Mutation	SNP	C	TCGA-DB-A64V-01A-11D-A29Q-08	55946795	114058203	83964227	12	1774											
PIK3CA	5290	broad.mit.edu	37	chr3	178928079	178928079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccagtacctcatggattaGaagatttgctgaaccctatt	11	12	9	9	0	1	3	1	1	0	2	1	4	1	4	3	2	3	2	3	2	5	5			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr3:178928079G>A	uc003fjk.3	+	7	1514	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	453	C2 PI3K-type.		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E453K(20)|p.E453Q(8)|p.P449_L455del(2)|p.G451_L456>V(2)|p.H450fs*9(1)|p.E453A(1)|p.E453del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCATGGATTAGAAGATTTGCT	0.348		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			7	64					0	0	1	0	0	A	178928079	G	A	178928079	3	1	45	1	0	0	0	0	1	0	0	0	11913	943	33	3	1383	3	PIK3CA	3	178928079	Missense_Mutation	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08	64869876	178928079	19094351	13	1775											
USP53	54532	broad.mit.edu	37	chr4	120192691	120192691	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacaatggcactggatatgAcacagacagcagccaagatt	15	7	10	9	0	0	4	0	2	0	2	0	5	0	5	1	2	2	2	1	2	3	2			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr4:120192691A>G	uc003ics.4	+	14	2742	c.1676A>G	c.(1675-1677)gAc>gGc	p.D559G	USP53_uc003icr.4_Missense_Mutation_p.D559G|USP53_uc003icu.4_Missense_Mutation_p.D182G|USP53_uc003ict.3_Missense_Mutation_p.D182G	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	Homo sapiens ubiquitin specific peptidase 53 (USP53), mRNA.	559					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ACTGGATATGACACAGACAGC	0.423													11	73					0	0	1	0	0	G	120192691	A	G	120192691	3	3	45	1	0	0	0	0	1	0	0	0	17081	275	10	3	1722	3	USP53	4	120192691	Missense_Mutation	SNP	A	TCGA-DB-A64V-01A-11D-A29Q-08		120192691	70961585	14	1776											
TAS2R1	50834	broad.mit.edu	37	chr5	9630017	9630017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaaagaaggagatccagcGgagccatttttctgtgcttg	12	10	12	7	1	1	3	0	0	1	3	2	5	2	4	2	2	3	1	2	2	3	3	rs2234231	byFrequency	TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr5:9630017G>A	uc003jem.1	-	0	447	c.128C>T	c.(127-129)cCg>cTg	p.P43L		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA.	43					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	p.A42V(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GAGATCCAGCGGAGCCATTTT	0.378													20	67					0	0	1	0	0	A	9630017	G	A	9630017	3	1	45	1	0	0	0	0	1	0	0	0	15562	1116	39	2	775	2	TAS2R1	5	9630017	Missense_Mutation	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08		9630017	171285243	15	1777											
PCDHGC5	56097	broad.mit.edu	37	chr5	140871058	140871058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtccagccccaacctgcagGtgagctcggacggcacgctc	8	5	12	16	3	0	1	0	1	0	0	3	2	1	2	4	3	4	4	4	3	1	0			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr5:140871058G>A	uc003lla.2	+	0	2251	c.2251G>A	c.(2251-2253)Gtg>Atg	p.V751M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc003lky.2_Intron|PCDHGC5_uc011dbc.2_Missense_Mutation_p.V751M	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 5 (PCDHGC5), transcript variant 1, mRNA.	751					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V751V(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACCTGCAGGTGAGCTCGGA	0.652													7	60					0	0	1	0	0	A	140871058	G	A	140871058	3	1	45	1	0	0	0	0	1	0	0	0	11571	1261	44	3	2253	3	PCDHGC5	5	140871058	Missense_Mutation	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08	131241041	140871058	40044202	16	1778											
DOCK2	1794	broad.mit.edu	37	chr5	169435568	169435568	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctgcagctggagcagtTctcacacgccaaatacaaca	12	9	7	13	1	2	0	1	0	2	0	4	1	2	1	1	1	5	4	1	1	3	3	rs145444170	byFrequency	TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr5:169435568T>C	uc003maf.3	+	30	3220	c.3140T>C	c.(3139-3141)tTc>tCc	p.F1047S	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.F539S	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1047	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGGAGCAGTTCTCACACGCC	0.448													6	59					0	0	1	0	0	C	169435568	T	C	169435568	3	2	45	1	0	0	0	0	1	0	0	0	4687	1783	62	3	3262	3	DOCK2	5	169435568	Missense_Mutation	SNP	T	TCGA-DB-A64V-01A-11D-A29Q-08	28564510	169435568	11479692	17	1779											
NKAPL	222698	broad.mit.edu	37	chr6	28228314	28228314	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaagattttagccagtttcCgagagatggtgcacaaaaag	14	10	11	6	1	0	2	0	0	0	2	1	4	1	2	2	1	2	3	2	1	4	4			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr6:28228314C>T	uc003nkt.3	+	0	1217	c.1165C>T	c.(1165-1167)Cga>Tga	p.R389*	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	Homo sapiens NFKB activating protein-like (NKAPL), mRNA.	389										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AGCCAGTTTCCGAGAGATGGT	0.378													3	33					0	0	1	0	0	T	28228314	C	T	28228314	4	4	45	1	0	0	0	0	0	1	0	0	10440	644	23	2	1167	2	NKAPL	6	28228314	Nonsense_Mutation	SNP	C	TCGA-DB-A64V-01A-11D-A29Q-08		28228314	142886753	18	1780											
ABCC10	89845	broad.mit.edu	37	chr6	43400788	43400788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtaacacttcaggcacgggGggctgtgctgaacatcctgt	8	9	14	10	1	1	1	1	1	0	0	2	1	2	1	1	5	3	4	1	5	2	2			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr6:43400788G>A	uc003ouy.1	+	2	1285	c.1070G>A	c.(1069-1071)gGg>gAg	p.G357E	ABCC10_uc003ouz.1_Missense_Mutation_p.G314E|ABCC10_uc010jyo.1_5'Flank	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	357	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CAGGCACGGGGGGCTGTGCTG	0.587													4	94					0	0	1	0	0	A	43400788	G	A	43400788	3	1	45	1	0	0	0	0	1	0	0	0	50	1232	43	3	943	3	ABCC10	6	43400788	Missense_Mutation	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08	15172474	43400788	127714279	19	1781											
MIOS	54468	broad.mit.edu	37	chr7	7625428	7625428	+	Frame_Shift_Del	DEL	G	G	-																															gtgaaacaggatcttacgatGgagttttggtaagctaactt																										TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr7:7625428delG	uc003srf.3	+	6	2118	c.1810delG	c.(1810-1812)ggafs	p.G604fs	MIOS_uc003srg.3_Frame_Shift_Del_p.G139fs|MIOS_uc010ktq.3_Frame_Shift_Del_p.M1fs	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	Homo sapiens missing oocyte, meiosis regulator, homolog (Drosophila) (MIOS), mRNA.	604										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATCTTACGATGGAGTTTTGGT	0.328													11	80	---	---	---	---						-	7625428	G	-	7625428	7	5	45	1	0	1	0	1	0	0	0	0	9589	1349	47	0	1824	0	MIOS	7	7625428	Frame_Shift_Del	DEL	G	TCGA-DB-A64V-01A-11D-A29Q-08		7625428	151513235	20	1782											
SAMD9L	219285	broad.mit.edu	37	chr7	92763622	92763638	+	Frame_Shift_Del	DEL	TTTCCACTGAAGAGAGT	TTTCCACTGAAGAGAGT	-																															aatgagtggatctcctgggcTttccactgaagagagtaata																								rs137896260		TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr7:92763622_92763638delTTTCCACTGAAGAGAGT	uc003umh.1	-	4	2863_2879	c.1647_1663delACTCTCTTCAGTGGAAA	c.(1645-1665)ttactctcttcagtggaaagcfs	p.L549fs	SAMD9L_uc003umj.1_Frame_Shift_Del_p.L549fs|SAMD9L_uc003umi.1_Frame_Shift_Del_p.L549fs|SAMD9L_uc010lfb.1_Frame_Shift_Del_p.L549fs|SAMD9L_uc003umk.1_Frame_Shift_Del_p.L549fs|SAMD9L_uc010lfc.1_Frame_Shift_Del_p.L549fs|SAMD9L_uc010lfd.1_Frame_Shift_Del_p.L549fs|SAMD9L_uc022ahh.1_Frame_Shift_Del_p.L549fs	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	549								p.V553fs*10(2)|p.L548I(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTCCTGGGCTTTCCACTGAAGAGAGTAATAGAAACA	0.35													9	17	---	---	---	---						-	92763638	TTTCCACTGAAGAGAGT	-	92763622	7	5	45	1	0	1	0	1	0	0	0	0	13827	1609	56	0	3095	0	SAMD9L	7	92763622	Frame_Shift_Del	DEL	TTTCCACTGAAGAGAGT	TCGA-DB-A64V-01A-11D-A29Q-08	85138194	92763622	66375041	21	1783											
CNGB3	54714	broad.mit.edu	37	chr8	87656896	87656896	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agactctaggtgatgattaaAttcaaaaaatgaagtgtact	17	12	8	4	0	2	4	1	3	1	1	2	4	2	4	0	1	1	1	0	1	8	4			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr8:87656896A>G	uc003ydx.3	-	8	1057	c.1009T>C	c.(1009-1011)Ttt>Ctt	p.F337L	CNGB3_uc010maj.3_Missense_Mutation_p.F199L	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	337					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TGATGATTAAATTCAAAAAAT	0.274													6	13					0	0	1	0	0	G	87656896	A	G	87656896	3	3	45	1	0	0	0	0	1	0	0	0	3601	101	4	3	1460	3	CNGB3	8	87656896	Missense_Mutation	SNP	A	TCGA-DB-A64V-01A-11D-A29Q-08		87656896	58707126	22	1784											
BICD2	23299	broad.mit.edu	37	chr9	95481529	95481529	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcccttctcctcggcgtgCtgggcctcacgagcctcgtg	2	9	13	17	5	2	0	1	0	1	0	5	1	2	0	4	3	2	1	4	3	0	1			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr9:95481529C>T	uc004asp.1	-	4	1455	c.1398G>A	c.(1396-1398)caG>caA	p.Q466Q	BICD2_uc004aso.1_Silent_p.Q466Q	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN	Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA.	466					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	Golgi apparatus|cytoplasmic vesicle|cytoskeleton|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CCTCGGCGTGCTGGGCCTCAC	0.667													20	36					0	0	1	0	0	T	95481529	C	T	95481529	2	4	45	1	0	0	0	0	0	0	0	1	1429	796	28	3		3	BICD2	9	95481529	Silent	SNP	C	TCGA-DB-A64V-01A-11D-A29Q-08		95481529	45731902	23	1785											
TACR2	6865	broad.mit.edu	37	chr10	71175890	71175890	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagttggtgactgtgcgcaTcctccgatgggccaggatga	7	10	15	9	2	0	2	0	2	0	0	2	4	2	3	3	3	1	3	3	3	1	2			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr10:71175890T>A	uc001jpn.2	-	0	785	c.190A>T	c.(190-192)Atg>Ttg	p.M64L		NM_001057	NP_001048	P21452	NK2R_HUMAN	Homo sapiens tachykinin receptor 2 (TACR2), mRNA.	64					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	ACTGTGCGCATCCTCCGATGG	0.587													4	56					0	0	1	0	0	A	71175890	T	A	71175890	3	1	45	1	0	0	0	0	1	0	0	0	15503	1435	50	5	1026	5	TACR2	10	71175890	Missense_Mutation	SNP	T	TCGA-DB-A64V-01A-11D-A29Q-08		71175890	64358857	24	1786											
NEUROG3	50674	broad.mit.edu	37	chr10	71332578	71332578	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctgcttgctcagtgccaaCtcgctcttaggccggctgcg	4	10	12	15	4	2	0	1	0	1	0	3	0	2	0	2	2	5	5	2	2	2	2			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr10:71332578C>G	uc001jpp.3	-	1	468	c.222G>C	c.(220-222)gaG>gaC	p.E74D	NEUROG3_uc021pry.1_Missense_Mutation_p.E74D	NM_020999	NP_066279	Q9Y4Z2	NGN3_HUMAN	Homo sapiens neurogenin 3 (NEUROG3), mRNA.	74					central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						TCAGTGCCAACTCGCTCTTAG	0.692													3	18					0	0	1	0	0	G	71332578	C	G	71332578	3	3	45	1	0	0	0	0	1	0	0	0	10354	564	20	5	426	5	NEUROG3	10	71332578	Missense_Mutation	SNP	C	TCGA-DB-A64V-01A-11D-A29Q-08	156688	71332578	64202169	25	1787											
MUC6	4588	broad.mit.edu	37	chr11	1024966	1024966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctcacgtccccgcacagcgGgctctccttccacgagttca	6	8	9	18	4	3	0	2	0	1	0	6	1	5	0	4	1	1	4	4	1	0	2			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr11:1024966G>A	uc001lsw.2	-	23	3154	c.3103C>T	c.(3103-3105)Ccg>Tcg	p.P1035S		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1035	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCGCACAGCGGGCTCTCCTTC	0.617													3	34					0	0	1	0	0	A	1024966	G	A	1024966	3	1	45	1	0	0	0	0	1	0	0	0	9980	1232	43	3	4256	3	MUC6	11	1024966	Missense_Mutation	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08		1024966	133981550	26	1788											
ABCC9	10060	broad.mit.edu	37	chr12	22012589	22012589	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcctctgtcccccactCaggttgatgccctagagaag	7	10	9	15	0	3	2	1	1	2	1	4	3	4	2	4	1	2	1	4	1	2	2			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr12:22012589C>A	uc001rfh.3	-	19	2456	c.2436G>T	c.(2434-2436)ctG>ctT	p.L812L	ABCC9_uc001rfi.1_Silent_p.L812L	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	812	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GTCCCCCACTCAGGTTGATGC	0.383													16	139					9.7654e-05	9.98241e-05	1	1	0	A	22012589	C	A	22012589	2	1	45	1	0	0	0	0	0	0	0	1	59	813	29	5		5	ABCC9	12	22012589	Silent	SNP	C	TCGA-DB-A64V-01A-11D-A29Q-08		22012589	111839306	27	1789											
SART3	9733	broad.mit.edu	37	chr12	108938934	108938934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgagcagcttccacaatcGcactttcaaactctcggtaa	11	9	6	15	3	2	0	1	0	1	0	5	1	3	0	2	1	3	4	2	1	3	3			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr12:108938934G>A	uc001tmz.1	-	3	945	c.710C>T	c.(709-711)gCg>gTg	p.A237V	SART3_uc009zux.1_5'UTR|SART3_uc010swx.1_Missense_Mutation_p.A237V|SART3_uc010swy.1_Missense_Mutation_p.A105V|SART3_uc010swz.1_Missense_Mutation_p.A237V|SART3_uc001tna.1_Non-coding_Transcript	NM_014706	NP_055521	Q15020	SART3_HUMAN	Homo sapiens squamous cell carcinoma antigen recognized by T cells 3 (SART3), mRNA.	237					RNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|protein binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						TTCCACAATCGCACTTTCAAA	0.493									Porokeratosis				53	195					0	0	1	0	0	A	108938934	G	A	108938934	3	1	45	1	0	0	0	0	1	0	0	0	13847	1087	38	1	2245	1	SART3	12	108938934	Missense_Mutation	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08	86926345	108938934	24912961	28	1790											
LTBP2	4053	broad.mit.edu	37	chr14	74988686	74988686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcaggagtaggaccccaCgcggttgatgcagcgccctt	9	6	14	12	3	0	1	0	1	0	0	0	4	0	3	3	3	3	4	3	3	2	3			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr14:74988686C>T	uc001xqa.3	-	16	3103	c.2716G>A	c.(2716-2718)Gtg>Atg	p.V906M		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	906	Cys-rich.|EGF-like 5; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TAGGACCCCACGCGGTTGATG	0.632													4	45					0	0	1	0	0	T	74988686	C	T	74988686	3	4	45	1	0	0	0	0	1	0	0	0	9074	536	19	1	2829	1	LTBP2	14	74988686	Missense_Mutation	SNP	C	TCGA-DB-A64V-01A-11D-A29Q-08		74988686	32360854	29	1791											
ACTC1	70	broad.mit.edu	37	chr15	35086923	35086923	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atggacgggaagacagcgcgGggcgcgtcatcgcccgcaaa	10	3	16	12	7	1	1	1	0	0	1	2	3	1	3	1	4	1	1	1	4	2	0			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr15:35086923G>A	uc001ziu.1	-	1	330	c.87C>T	c.(85-87)ccC>ccT	p.P29P	AK092087_uc001zit.1_Intron	NM_005159	NP_005150	P68032	ACTC_HUMAN	Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA.	29					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	I band|actomyosin, actin part|cytosol	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AGACAGCGCGGGGCGCGTCAT	0.682													4	83					0	0	1	0	0	A	35086923	G	A	35086923	2	1	45	1	0	0	0	0	0	0	0	1	195	1219	43	3		3	ACTC1	15	35086923	Silent	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08		35086923	67444469	30	1792											
ADAMTS7	11173	broad.mit.edu	37	chr15	79092723	79092723	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggttgaagcgcagctcGcgcccgcggtattgtagctc	6	9	14	12	5	1	1	1	1	0	0	3	1	1	1	1	2	3	6	1	2	3	4			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr15:79092723G>A	uc002bej.4	-	1	478	c.267C>T	c.(265-267)cgC>cgT	p.R89R	ADAMTS7_uc010und.1_Silent_p.R89R|ADAMTS7_uc002bek.1_Silent_p.R89R	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	89					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGCGCAGCTCGCGCCCGCGGT	0.706													3	23					0	0	1	0	0	A	79092723	G	A	79092723	2	1	45	1	0	0	0	0	0	0	0	1	271	1074	38	1		1	ADAMTS7	15	79092723	Silent	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08	44005800	79092723	23438669	31	1793											
C16orf11	146325	broad.mit.edu	37	chr16	614024	614024	+	Frame_Shift_Del	DEL	C	C	-																															cctcggccagccccctgctgCccccggccacggccttccca																										TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr16:614024delC	uc002chk.3	+	1	1009	c.730delC	c.(730-732)cccfs	p.P244fs		NM_145270	NP_660313	P0CG20	CP011_HUMAN	Homo sapiens chromosome 16 open reading frame 11 (C16orf11), mRNA.	244	Pro-rich.									central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CCCCCTGCTGCCCCCGGCCAC	0.731													3	6	---	---	---	---						-	614024	C	-	614024	7	5	45	1	0	1	0	1	0	0	0	0	1810	739	26	0	732	0	C16orf11	16	614024	Frame_Shift_Del	DEL	C	TCGA-DB-A64V-01A-11D-A29Q-08		614024	89740729	32	1794											
SNX20	124460	broad.mit.edu	37	chr16	50707432	50707432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacgaagtccttgcccagcGcgtaggccaggcggaccatg	8	6	13	14	4	1	0	1	0	0	0	2	2	2	1	4	3	2	1	4	3	2	2			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr16:50707432G>A	uc002egk.2	-	3	1009	c.836C>T	c.(835-837)gCg>gTg	p.A279V	SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron|SNX20_uc021thz.1_Intron	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	Homo sapiens sorting nexin 20 (SNX20), transcript variant 1, mRNA.	279					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CTTGCCCAGCGCGTAGGCCAG	0.697													5	78					0	0	1	0	0	A	50707432	G	A	50707432	3	1	45	1	0	0	0	0	1	0	0	0	14892	1087	38	1	261	1	SNX20	16	50707432	Missense_Mutation	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08	50093408	50707432	39647321	33	1795											
GJC1	10052	broad.mit.edu	37	chr17	42882004	42882004	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccgccaggattaaatccaGacggaggtcttcccatcccc	9	7	9	16	2	1	1	0	0	1	1	4	3	4	3	6	3	0	0	6	3	2	2			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr17:42882004G>A	uc002ihj.3	-	1	1693	c.1182C>T	c.(1180-1182)gtC>gtT	p.V394V	GJC1_uc002ihk.3_Silent_p.V394V|GJC1_uc002ihl.3_Silent_p.V394V|GJC1_uc021tyf.1_Silent_p.V394V	NM_005497	NP_005488	P36383	CXG1_HUMAN	Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA.	394					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				ATTAAATCCAGACGGAGGTCT	0.488													16	122					0	0	1	0	0	A	42882004	G	A	42882004	2	1	45	1	0	0	0	0	0	0	0	1	6414	929	33	3		3	GJC1	17	42882004	Silent	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08		42882004	38313206	34	1796											
HAUS1	115106	broad.mit.edu	37	chr18	43700024	43700024	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtattagaaaaatgtctacaAgagtaagtaattgagttcag	17	12	9	3	0	2	3	1	1	1	2	2	3	2	3	0	0	1	4	0	0	8	7			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr18:43700024A>G	uc002lbu.3	+	3	554	c.474A>G	c.(472-474)caA>caG	p.Q158Q	HAUS1_uc002lbv.3_Silent_p.Q82Q	NM_138443	NP_612452	Q96CS2	HAUS1_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 1 (HAUS1), transcript variant 1, mRNA.	158					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle pole				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						AATGTCTACAAGAGTAAGTAA	0.294													7	16					0	0	1	0	0	G	43700024	A	G	43700024	2	3	45	1	0	0	0	0	0	0	0	1	6965	69	3	4		4	HAUS1	18	43700024	Silent	SNP	A	TCGA-DB-A64V-01A-11D-A29Q-08		43700024	34377224	35	1797											
NACC1	112939	broad.mit.edu	37	chr19	13248162	13248162	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcggcacaaggtcctactgCggcggctcctggcctccttc	4	8	12	17	4	0	0	0	0	0	0	4	0	3	0	4	5	2	2	4	5	2	2			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr19:13248162C>G	uc002mwm.3	+	3	1366	c.1198C>G	c.(1198-1200)Cgg>Ggg	p.R400G		NM_052876	NP_443108	Q96RE7	NACC1_HUMAN	Homo sapiens nucleus accumbens associated 1, BEN and BTB (POZ) domain containing (NACC1), mRNA.	400	BEN.				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						GGTCCTACTGCGGCGGCTCCT	0.647													8	85					0	0	1	0	0	G	13248162	C	G	13248162	3	3	45	1	0	0	0	0	1	0	0	0	10135	759	27	5	1208	5	NACC1	19	13248162	Missense_Mutation	SNP	C	TCGA-DB-A64V-01A-11D-A29Q-08		13248162	45880821	36	1798											
CIC	23152	broad.mit.edu	37	chr19	42791802	42791802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaccaggacaaccggaccGtcagcaagatcctgggcgag	12	3	12	14	3	1	1	1	0	0	1	2	4	2	3	5	3	3	1	5	3	3	0			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr19:42791802G>A	uc002otf.1	+	4	728	c.688G>A	c.(688-690)Gtc>Atc	p.V230I		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.V230I(2)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAACCGGACCGTCAGCAAGAT	0.617			"Mis, F, S"		oligodendroglioma								10	64					0	0	1	0	0	A	42791802	G	A	42791802	3	1	45	1	0	0	0	0	1	0	0	0	3424	1145	40	1	706	1	CIC	19	42791802	Missense_Mutation	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08	29543640	42791802	16337181	37	1799											
SLC24A3	57419	broad.mit.edu	37	chr20	19193520	19193522	+	In_Frame_Del	DEL	CGC	CGC	-																															gcgacgaggaccgcgcgcgtCgccgccgccgccgccgccgc																										TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr20:19193520_19193522delCGC	uc002wrl.3	+	0	231_233	c.34_36delCGC	c.(34-36)cgcdel	p.R20del		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	20						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCGCGCGcgtcgccgccgccgcc	0.813													2	4	---	---	---	---						-	19193522	CGC	-	19193520	7	5	45	1	0	1	0	1	0	0	0	0	14467	884	31	0	36	0	SLC24A3	20	19193520	In_Frame_Del	DEL	CGC	TCGA-DB-A64V-01A-11D-A29Q-08		19193520	43832000	38	1800											
ATP9A	10079	broad.mit.edu	37	chr20	50312662	50312662	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtcctcaggaagatcaTgtcggcagggacccgctggt	8	9	14	10	2	2	2	2	1	0	1	4	4	3	4	2	4	0	2	2	4	1	0			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr20:50312662T>C	uc002xwg.1	-	5	517	c.517A>G	c.(517-519)Atg>Gtg	p.M173V	ATP9A_uc010gih.1_Intron|ATP9A_uc002xwf.1_5'UTR	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	173					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AGGAAGATCATGTCGGCAGGG	0.448													7	43					0	0	1	0	0	C	50312662	T	C	50312662	3	2	45	1	0	0	0	0	1	0	0	0	1198	1464	51	3	2718	3	ATP9A	20	50312662	Missense_Mutation	SNP	T	TCGA-DB-A64V-01A-11D-A29Q-08	31119142	50312662	12712858	39	1801											
UBASH3A	53347	broad.mit.edu	37	chr21	43833168	43833168	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggaatgcctgtacgaggcGctgaagagagctggagacag	11	6	17	7	2	0	3	0	1	0	2	0	7	0	4	1	3	3	3	1	3	3	1	rs141710800		TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr21:43833168G>A	uc002zbe.3	+	3	474	c.390G>A	c.(388-390)gcG>gcA	p.A130A	UBASH3A_uc002zbf.3_Silent_p.A130A|UBASH3A_uc010gpe.3_Silent_p.A130A|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	130						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TGTACGAGGCGCTGAAGAGAG	0.547													21	177					0	0	1	0	0	A	43833168	G	A	43833168	2	1	45	1	0	0	0	0	0	0	0	1	16836	1074	38	1		1	UBASH3A	21	43833168	Silent	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08		43833168	4296727	40	1802											
EP300	2033	broad.mit.edu	37	chr22	41566476	41566476	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattatatcttccattgccaTcctcctgaccagaagatacc	11	12	5	13	0	1	3	0	1	1	2	4	4	4	3	6	0	2	0	6	0	4	5			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr22:41566476T>C	uc003azl.4	+	26	4748	c.4353T>C	c.(4351-4353)caT>caC	p.H1451H		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	1451					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding	p.H1451L(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TCCATTGCCATCCTCCTGACC	0.428			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				9	64					0	0	1	0	0	C	41566476	T	C	41566476	2	2	45	1	0	0	0	0	0	0	0	1	5148	1432	50	3		3	EP300	22	41566476	Silent	SNP	T	TCGA-DB-A64V-01A-11D-A29Q-08		41566476	9738090	41	1803											
BEND2	139105	broad.mit.edu	37	chrX	18183208	18183208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggggtcactgctggaagcGactgagacctggcttcagcc	8	7	15	11	1	2	1	2	1	0	1	2	5	2	2	2	4	3	2	2	4	1	1			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chrX:18183208G>A	uc004cyj.4	-	13	2475	c.2321C>T	c.(2320-2322)tCg>tTg	p.S774L		NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	774								p.S774L(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TGCTGGAAGCGACTGAGACCT	0.557													14	87					0	0	1	0	0	A	18183208	G	A	18183208	3	1	45	1	0	0	0	0	1	0	0	0	1398	1059	37	2	82	2	BEND2	23	18183208	Missense_Mutation	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08		18183208	137087352	42	1804											
RBMXL1	494115	broad.mit.edu	37	chr1	89448560	89448560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttccaccatatccatcaCgtgagctgctataatcatca	12	11	5	13	1	3	1	3	1	0	0	5	2	5	1	3	0	2	2	3	0	3	4			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr1:89448560C>T	uc021opo.1	-	0	950	c.950G>A	c.(949-951)cGt>cAt	p.R317H	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc009wcx.3_Missense_Mutation_p.R317H|RBMXL1_uc001dms.3_Missense_Mutation_p.R317H	NM_019610	NP_062556	Q96E39	RBMXL_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 1 (RBMXL1), transcript variant 2, mRNA.	317	Ser-rich.						RNA binding|nucleotide binding										ATATCCATCACGTGAGCTGCT	0.498													113	42					0	0	1	0	0	T	89448560	C	T	89448560	3	4	46	1	0	0	0	0	1	0	0	0	13153	536	19	1	226	1	RBMXL1	1	89448560	Missense_Mutation	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08		89448560	159802061	1	1805											
DENND2D	79961	broad.mit.edu	37	chr1	111738675	111738675	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcttctccacttcatccaGgatctgcagggaaaagaacc	11	10	7	13	0	4	1	1	0	3	1	7	3	5	3	3	2	2	1	3	2	3	2			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr1:111738675G>C	uc001eak.1	-	5	708	c.508C>G	c.(508-510)Ctg>Gtg	p.L170V	DENND2D_uc001eal.1_Missense_Mutation_p.L167V	NM_024901	NP_079177	Q9H6A0	DEN2D_HUMAN	Homo sapiens DENN/MADD domain containing 2D (DENND2D), mRNA.	170	DENN.									breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		ACTTCATCCAGGATCTGCAGG	0.552													30	7					0	0	1	0	0	C	111738675	G	C	111738675	3	2	46	1	0	0	0	0	1	0	0	0	4431	991	35	5	935	5	DENND2D	1	111738675	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08	22290115	111738675	137511946	2	1806											
OR6N2	81442	broad.mit.edu	37	chr1	158746704	158746704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagcaagatgtgaggcaCaggtagaaaaggccttcttt	13	8	11	9	0	1	3	0	1	1	2	1	3	1	3	2	3	1	3	2	3	4	3			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr1:158746704C>T	uc010pir.2	-	0	722	c.722G>A	c.(721-723)tGt>tAt	p.C241Y		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					ATGTGAGGCACAGGTAGAAAA	0.433													22	25					0	0	1	0	0	T	158746704	C	T	158746704	3	4	46	1	0	0	0	0	1	0	0	0	11207	478	17	3	234	3	OR6N2	1	158746704	Missense_Mutation	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08	47008029	158746704	90503917	3	1807											
EPRS	2058	broad.mit.edu	37	chr1	220142262	220142262	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatgcaaaggcttttagcTcccatggatggagcaccagg	10	8	14	9	0	0	0	0	0	0	0	1	3	1	3	2	5	3	4	2	5	2	2			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr1:220142262T>A	uc001hly.1	-	31	4695	c.4425A>T	c.(4423-4425)ggA>ggT	p.G1475G	RNU5F-1_uc021pjd.1_Intron	NM_004446	NP_004437	P07814	SYEP_HUMAN	Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	1475	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|RNA binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	GGCTTTTAGCTCCCATGGATG	0.433													32	42					0	0	1	0	0	A	220142262	T	A	220142262	2	1	46	1	0	0	0	0	0	0	0	1	5191	1538	54	5		5	EPRS	1	220142262	Silent	SNP	T	TCGA-DB-A64W-01A-11D-A29Q-08	61395558	220142262	29108359	4	1808											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								24	30					0	0	1	0	0	T	209113112	C	T	209113112	3	4	46	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08		209113112	34086261	5	1809											
ALS2CL	259173	broad.mit.edu	37	chr3	46722851	46722851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggaccccaaatccgtgccGcaggccctcctggaagtagc	10	5	11	15	2	0	0	0	0	0	0	2	2	2	2	6	3	2	2	6	3	4	1			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr3:46722851G>A	uc003cqa.2	-	12	1514	c.1321C>T	c.(1321-1323)Cgg>Tgg	p.R441W	ALS2CL_uc003cpz.2_5'UTR|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Missense_Mutation_p.R441W	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	441					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|identical protein binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AATCCGTGCCGCAGGCCCTCC	0.637													5	190					0	0	1	0	0	A	46722851	G	A	46722851	3	1	46	1	0	0	0	0	1	0	0	0	551	1086	38	1	1596	1	ALS2CL	3	46722851	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08		46722851	151299579	6	1810											
COL8A1	1295	broad.mit.edu	37	chr3	99513494	99513494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcttcgggatgccaggtgCgccaggtgtaaaggggcctc	6	7	18	10	2	0	0	0	0	0	0	2	1	0	1	3	6	2	2	3	6	2	2			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr3:99513494C>T	uc003dti.1	+	2	880	c.752C>T	c.(751-753)gCg>gTg	p.A251V	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.A250V|COL8A1_uc003dth.1_Missense_Mutation_p.A250V	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	250	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						ATGCCAGGTGCGCCAGGTGTA	0.642													66	121					0	0	1	0	0	T	99513494	C	T	99513494	3	4	46	1	0	0	0	0	1	0	0	0	3705	768	27	1	755	1	COL8A1	3	99513494	Missense_Mutation	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08	52790643	99513494	98508936	7	1811											
ZBTB11	27107	broad.mit.edu	37	chr3	101373567	101373567	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgagtacaatgatagcctcGaacctcaggctttggttggt	9	12	11	9	1	1	2	1	2	0	0	2	3	1	2	2	3	3	3	2	3	4	4			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr3:101373567G>A	uc003dve.4	-	7	2520	c.2290C>T	c.(2290-2292)Cga>Tga	p.R764*		NM_014415	NP_055230	O95625	ZBT11_HUMAN	Homo sapiens zinc finger and BTB domain containing 11 (ZBTB11), mRNA.	764					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGATAGCCTCGAACCTCAGGC	0.363													28	38					0	0	1	0	0	A	101373567	G	A	101373567	4	1	46	1	0	0	0	0	0	1	0	0	17521	1066	37	2	887	2	ZBTB11	3	101373567	Nonsense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08	1860073	101373567	96648863	8	1812											
ZBTB20	26137	broad.mit.edu	37	chr3	114058129	114058129	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtggaggcgcatgtgcacgTtgagggagctcttctgggtg	5	10	19	7	2	2	1	0	1	2	0	2	3	2	3	0	5	2	4	0	5	0	2			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr3:114058129T>C	uc003ebi.3	-	4	2129	c.1949A>G	c.(1948-1950)aAc>aGc	p.N650S	ZBTB20_uc003ebj.3_Missense_Mutation_p.N577S|ZBTB20_uc010hqp.3_Missense_Mutation_p.N577S|ZBTB20_uc003ebk.3_Missense_Mutation_p.N577S|ZBTB20_uc003ebl.3_Missense_Mutation_p.N577S|ZBTB20_uc003ebm.3_Missense_Mutation_p.N577S|ZBTB20_uc003ebn.3_Missense_Mutation_p.N577S	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	650					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CATGTGCACGTTGAGGGAGCT	0.527													75	134					0	0	1	0	0	C	114058129	T	C	114058129	3	2	46	1	0	0	0	0	1	0	0	0	17526	1725	60	3	280	3	ZBTB20	3	114058129	Missense_Mutation	SNP	T	TCGA-DB-A64W-01A-11D-A29Q-08	12684562	114058129	83964301	9	1813											
IGSF10	285313	broad.mit.edu	37	chr3	151162901	151162901	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgcttcttgaactggtttcTtatcaaagtcactcttcttt	7	20	5	9	0	6	1	2	1	4	0	6	1	6	1	0	1	2	2	0	1	3	7			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr3:151162901T>C	uc011bod.2	-	3	4868	c.4868A>G	c.(4867-4869)aAg>aGg	p.K1623R		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1623					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AACTGGTTTCTTATCAAAGTC	0.438													51	63					0	0	1	0	0	C	151162901	T	C	151162901	3	2	46	1	0	0	0	0	1	0	0	0	7597	1609	56	4	3063	4	IGSF10	3	151162901	Missense_Mutation	SNP	T	TCGA-DB-A64W-01A-11D-A29Q-08	37104772	151162901	46859529	10	1814											
PIK3CA	5290	broad.mit.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacacgagatcctctctctGaaatcactgagcaggagaaa	14	8	8	11	1	3	4	1	2	2	2	5	6	4	4	1	1	2	1	1	1	3	1	rs121913273		TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr3:178936082G>A	uc003fjk.3	+	9	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(1231)|p.E542Q(18)|p.E542V(8)|p.(542_545)E>K(4)|p.E542G(2)|p.E542A(2)|p.S541T(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			17	22					0	0	1	0	0	A	178936082	G	A	178936082	3	1	46	1	0	0	0	0	1	0	0	0	11913	1291	45	3	1658	3	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08	27773181	178936082	19086348	11	1815											
GPR98	84059	broad.mit.edu	37	chr5	89971261	89971261	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcagtcctgaggattaccAggtaatttactcagtccttt	10	15	7	9	0	2	1	2	1	0	0	4	2	4	2	3	2	2	1	3	2	3	6			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr5:89971261A>G	uc003kju.3	+	24	5409	c.5313_splice	c.e24+1	p.Q1771_splice	GPR98_uc003kjt.3_Splice_Site|GPR98_uc010jba.2_Splice_Site	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1771	Calx-beta 12.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAGGATTACCAGGTAATTTAC	0.433													8	16					0	0	1	0	0	G	89971261	A	G	89971261	5	3	46	1	0	0	0	0	0	0	1	0	6721	202	7	4	5406	4	GPR98	5	89971261	Splice_Site	SNP	A	TCGA-DB-A64W-01A-11D-A29Q-08		89971261	90943999	12	1816											
ZCCHC10	54819	broad.mit.edu	37	chr5	132334445	132334446	+	Frame_Shift_Ins	INS	-	-	T																															tcatcagtgtcactgtcctcINStgaggaggaagaggtagatg																										TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr5:132334445_132334446insT	uc003kyh.3	-	4	419_420	c.408_409insA	c.(406-411)tcagagfs	p.S136fs	ZCCHC10_uc003kyg.3_Frame_Shift_Ins_p.S114fs|ZCCHC10_uc011cxl.2_Frame_Shift_Ins_p.S100fs	NM_017665	NP_060135	Q8TBK6	ZCH10_HUMAN	Homo sapiens zinc finger, CCHC domain containing 10 (ZCCHC10), mRNA.	136	Ser-rich.						nucleic acid binding|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCACTGTCCTCTGAGGAGGAAG	0.48													12	22	---	---	---	---						T	132334446	-	T	132334445	7	5	46	1	0	1	1	0	0	0	0	0	17576	922	32	0	173	0	ZCCHC10	5	132334445	Frame_Shift_Ins	INS	-	TCGA-DB-A64W-01A-11D-A29Q-08	42363184	132334445	48580815	13	1817											
PCDHGC5	56097	broad.mit.edu	37	chr5	140857769	140857769	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcaccttttatctacttCtttctctaatcctggtttct	6	21	2	12	0	5	0	1	0	5	0	8	0	6	0	2	1	1	1	2	1	3	7			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr5:140857769C>A	uc003lkv.2	+	0	2201	c.2086C>A	c.(2086-2088)Ctt>Att	p.L696I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lku.1_Missense_Mutation_p.L696I|PCDHGC5_uc003lkw.2_Intron	NM_002588	NP_002579	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), transcript variant 1, mRNA.	696					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I695N(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTATCTACTTCTTTCTCTAAT	0.488											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	198	260					1.98392e-77	2.07839e-77	1	1	0	A	140857769	C	A	140857769	3	1	46	1	0	0	0	0	1	0	0	0	11571	913	32	5		5	PCDHGC5	5	140857769	Missense_Mutation	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08	8523324	140857769	40057491	14	1818											
ZNF292	23036	broad.mit.edu	37	chr6	87964502	87964503	+	Frame_Shift_Ins	INS	-	-	A																															tgcctgatgatctggaagttINSaaacgtgcttgtcaactgag																										TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr6:87964502_87964503insA	uc003plm.4	+	7	1196_1197	c.1155_1156insA	c.(1153-1158)gttaaafs	p.V385fs		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ATCTGGAAGTTAAACGTGCTTG	0.376													19	39	---	---	---	---						A	87964503	-	A	87964502	7	5	46	1	0	1	1	0	0	0	0	0	17823	1741	61	0	1185	0	ZNF292	6	87964502	Frame_Shift_Ins	INS	-	TCGA-DB-A64W-01A-11D-A29Q-08		87964502	83150565	15	1819											
EZR	7430	broad.mit.edu	37	chr6	159188410	159188410	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagcccgtgggctctgcGccctcatcctgcaagctctc	4	10	10	17	2	3	0	1	0	2	0	5	0	4	0	3	1	4	4	3	1	2	1			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr6:159188410G>A	uc003qrt.4	-	11	1694	c.1479C>T	c.(1477-1479)ggC>ggT	p.G493G	MIR3918_uc021zho.1_5'Flank|EZR_uc011efr.2_Silent_p.G100G|EZR_uc011efs.2_Silent_p.G461G|EZR_uc003qru.4_Silent_p.G493G	NM_003379	NP_003370	P15311	EZRI_HUMAN	Homo sapiens ezrin (EZR), transcript variant 1, mRNA.	493	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TGGGCTCTGCGCCCTCATCCT	0.642			T	ROS1	NSCLC								43	93					0	0	1	0	0	A	159188410	G	A	159188410	2	1	46	1	0	0	0	0	0	0	0	1	5335	1074	38	1		1	EZR	6	159188410	Silent	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08	71223908	159188410	11926657	16	1820											
TNRC18	84629	broad.mit.edu	37	chr7	5428871	5428871	+	Frame_Shift_Del	DEL	G	G	-																															gcgacgacgagcctttggccGgggcgcccgaggagtggccg																										TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr7:5428871delG	uc003soi.4	-	4	933	c.584delC	c.(583-585)ccgfs	p.P195fs	TNRC18_uc010ksx.1_Frame_Shift_Del_p.P121fs	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	195							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GCCTTTGGCCGGGGCGCCCGA	0.776													2	4	---	---	---	---						-	5428871	G	-	5428871	7	5	46	1	0	1	0	1	0	0	0	0	16336	1116	39	0	8426	0	TNRC18	7	5428871	Frame_Shift_Del	DEL	G	TCGA-DB-A64W-01A-11D-A29Q-08		5428871	153709792	17	1821											
AGR3	155465	broad.mit.edu	37	chr7	16918142	16918142	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattacagcacctcttgagAgtgtctgaggaggcctcttt	9	12	11	9	0	3	3	0	2	3	2	3	5	3	4	2	2	2	1	2	2	1	3			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr7:16918142A>G	uc003sts.3	-	1	174	c.101T>C	c.(100-102)cTc>cCc	p.L34P		NM_176813	NP_789783	Q8TD06	AGR3_HUMAN	Homo sapiens anterior gradient 3 homolog (Xenopus laevis) (AGR3), mRNA.	34						extracellular region				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		ACCTCTTGAGAGTGTCTGAGG	0.383													19	29					0	0	1	0	0	G	16918142	A	G	16918142	3	3	46	1	0	0	0	0	1	0	0	0	396	304	11	4	427	4	AGR3	7	16918142	Missense_Mutation	SNP	A	TCGA-DB-A64W-01A-11D-A29Q-08	11489271	16918142	142220521	18	1822											
SKAP2	8935	broad.mit.edu	37	chr7	26729921	26729921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgaggtgtgatggacaCtatcctgactcatcttcctt	8	14	8	11	0	2	3	1	3	1	0	4	4	4	4	3	2	1	0	3	2	2	4			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr7:26729921C>T	uc003syc.3	-	9	1150	c.857G>A	c.(856-858)aGt>aAt	p.S286N	SKAP2_uc011jzi.2_Missense_Mutation_p.S114N|SKAP2_uc011jzj.2_Missense_Mutation_p.S271N	NM_003930	NP_003921	O75563	SKAP2_HUMAN	Homo sapiens src kinase associated phosphoprotein 2 (SKAP2), mRNA.	286					B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						GTGATGGACACTATCCTGACT	0.378													20	43					0	0	1	0	0	T	26729921	C	T	26729921	3	4	46	1	0	0	0	0	1	0	0	0	14356	565	20	3	234	3	SKAP2	7	26729921	Missense_Mutation	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08	9811779	26729921	132408742	19	1823											
HECW1	23072	broad.mit.edu	37	chr7	43483866	43483866	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgagtcagcccaaattcaGgacagccccatgaacaacct	13	6	7	15	0	2	2	2	2	0	0	2	3	2	3	5	1	4	0	5	1	3	1			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr7:43483866G>A	uc003tid.1	+	10	1700	c.1095G>A	c.(1093-1095)caG>caA	p.Q365Q	HECW1_uc011kbi.1_Silent_p.Q365Q	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	365					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			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						CCCAAATTCAGGACAGCCCCA	0.532													22	45					0	0	1	0	0	A	43483866	G	A	43483866	2	1	46	1	0	0	0	0	0	0	0	1	7042	991	35	3		3	HECW1	7	43483866	Silent	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08	16753945	43483866	115654797	20	1824											
DOCK4	9732	broad.mit.edu	37	chr7	111512564	111512564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatttcttttaatttagagaGacagccagtgatcttgtctg	11	16	8	6	0	3	3	0	1	3	2	3	4	3	3	1	0	1	0	1	0	3	6			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr7:111512564G>A	uc003vfy.3	-	17	2070	c.1801C>T	c.(1801-1803)Ctc>Ttc	p.L601F	DOCK4_uc003vfw.3_Missense_Mutation_p.L42F|DOCK4_uc003vfx.3_Missense_Mutation_p.L601F|DOCK4_uc003vga.1_Missense_Mutation_p.L206F	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	601	DHR-1.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AATTTAGAGAGACAGCCAGTG	0.328													3	6					0	0	1	0	0	A	111512564	G	A	111512564	3	1	46	1	0	0	0	0	1	0	0	0	4689	942	33	3	4239	3	DOCK4	7	111512564	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08	68028698	111512564	47626099	21	1825											
MCPH1	79648	broad.mit.edu	37	chr8	6301937	6301937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatactttgctggtggcttaCactcatcttttgatgatctt	8	18	7	8	0	3	2	1	2	2	0	3	2	3	2	0	2	3	2	0	2	3	6			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr8:6301937C>T	uc003wqi.3	+	7	770	c.694C>T	c.(694-696)Cac>Tac	p.H232Y	MCPH1_uc003wqh.3_Missense_Mutation_p.H232Y|MCPH1_uc011kwl.2_Missense_Mutation_p.H184Y	NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	Homo sapiens microcephalin 1 (MCPH1), transcript variant 1, mRNA.	232						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		TGGTGGCTTACACTCATCTTT	0.338													20	36					0	0	1	0	0	T	6301937	C	T	6301937	3	4	46	1	0	0	0	0	1	0	0	0	9398	478	17	3	724	3	MCPH1	8	6301937	Missense_Mutation	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08		6301937	140062085	22	1826											
WNK2	65268	broad.mit.edu	37	chr9	96018613	96018613	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggctctgtcccggccccCgcctgccctccgtccctcca	1	8	10	22	3	1	0	0	0	1	0	5	0	5	0	8	2	1	1	8	2	0	0			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr9:96018613C>T	uc004ati.1	+	8	2067	c.2067C>T	c.(2065-2067)ccC>ccT	p.P689P	WNK2_uc011lud.1_Silent_p.P689P|WNK2_uc004atj.3_Silent_p.P689P|WNK2_uc004atk.3_Silent_p.P326P|WNK2_uc010mrc.1_Intron	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	689					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TCCCGGCCCCCGCCTGCCCTC	0.751													7	10					0	0	1	0	0	T	96018613	C	T	96018613	2	4	46	1	0	0	0	0	0	0	0	1	17375	639	23	2		2	WNK2	9	96018613	Silent	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08		96018613	45194818	23	1827											
AGPAT2	10555	broad.mit.edu	37	chr9	139571516	139571516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccgaggtacatgatgaggCccacgggccccaggaagagc	10	3	14	14	2	0	3	0	2	0	1	0	5	0	4	5	4	2	1	5	4	2	1			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr9:139571516C>T	uc004cii.1	-	2	491	c.389G>A	c.(388-390)gGc>gAc	p.G130D	AGPAT2_uc004cij.1_Missense_Mutation_p.G130D	NM_006412	NP_006403	O15120	PLCB_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta) (AGPAT2), transcript variant 1, mRNA.	130					phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		CATGATGAGGCCCACGGGCCC	0.637													73	113					0	0	1	0	0	T	139571516	C	T	139571516	3	4	46	1	0	0	0	0	1	0	0	0	387	739	26	3	463	3	AGPAT2	9	139571516	Missense_Mutation	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08	43552903	139571516	1641915	24	1828											
ADARB2	105	broad.mit.edu	37	chr10	1405304	1405304	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctcctgcagtgcggcctgCgcggcctgaccccgggccag	4	5	15	17	4	0	1	0	1	0	0	1	1	1	1	6	3	4	2	6	3	0	0			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr10:1405304C>T	uc009xhq.3	-	2	1322	c.996G>A	c.(994-996)gcG>gcA	p.A332A		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	332	DRBM 2.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GTGCGGCCTGCGCGGCCTGAC	0.746													9	6					0	0	1	0	0	T	1405304	C	T	1405304	2	4	46	1	0	0	0	0	0	0	0	1	283	755	27	1		1	ADARB2	10	1405304	Silent	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08		1405304	134129443	25	1829											
PRF1	5551	broad.mit.edu	37	chr10	72358832	72358832	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggtgccgtagttggagatAagcctgaggtaggcgggctg	7	9	19	6	2	0	2	0	1	0	1	0	3	0	2	2	5	2	4	2	5	3	4			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr10:72358832A>C	uc009xqg.3	-	2	806	c.645T>G	c.(643-645)ctT>ctG	p.L215L	PRF1_uc001jrf.4_Silent_p.L215L	NM_001083116	NP_005032	P14222	PERF_HUMAN	Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA.	215	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						AGTTGGAGATAAGCCTGAGGT	0.662			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				30	40					0	0	1	0	0	C	72358832	A	C	72358832	2	2	46	1	0	0	0	0	0	0	0	1	12478	349	13	5		5	PRF1	10	72358832	Silent	SNP	A	TCGA-DB-A64W-01A-11D-A29Q-08	70953528	72358832	63175915	26	1830											
PDE6C	5146	broad.mit.edu	37	chr10	95425134	95425134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagctgctgaagattcaggaGgtggtgatgacaaaaagtcc	13	9	13	6	0	1	4	1	3	0	1	2	5	2	5	1	3	2	2	1	3	4	2			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr10:95425134G>A	uc001kiu.4	+	21	2674	c.2536G>A	c.(2536-2538)Ggt>Agt	p.G846S		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	846					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				AGATTCAGGAGGTGGTGATGA	0.313													9	28					0	0	1	0	0	A	95425134	G	A	95425134	3	1	46	1	0	0	0	0	1	0	0	0	11647	1000	35	3	2622	3	PDE6C	10	95425134	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08	23066302	95425134	40109613	27	1831											
OR52B4	143496	broad.mit.edu	37	chr11	4388941	4388941	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacccataccaaatgtttatTcgaatgtcattacatgcata	15	13	4	9	1	1	0	1	0	0	0	2	1	1	0	2	0	4	2	2	0	7	6			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr11:4388941T>C	uc010qye.2	-	0	676	c.585A>G	c.(583-585)cgA>cgG	p.R195R		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R195*(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAATGTTTATTCGAATGTCAT	0.343													27	47					0	0	1	0	0	C	4388941	T	C	4388941	2	2	46	1	0	0	0	0	0	0	0	1	11112	1770	62	3		3	OR52B4	11	4388941	Silent	SNP	T	TCGA-DB-A64W-01A-11D-A29Q-08		4388941	130617575	28	1832											
USP35	57558	broad.mit.edu	37	chr11	77907849	77907849	+	Frame_Shift_Del	DEL	G	G	-																															gaaggcgaggagggcgccgtGgagttcctagagcaggccca																										TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr11:77907849delG	uc021qny.1	+	1	914	c.558delG	c.(556-558)gtgfs	p.V186fs	USP35_uc001oze.2_Intron|USP35_uc001ozc.3_Intron|USP35_uc010rsp.2_Intron|USP35_uc001ozd.3_5'UTR|USP35_uc001ozf.3_5'Flank	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	Homo sapiens ubiquitin specific peptidase 35 (USP35), mRNA.	186					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			AGGGCGCCGTGGAGTTCCTAG	0.711													2	4	---	---	---	---						-	77907849	G	-	77907849	7	5	46	1	0	1	0	1	0	0	0	0	17063	1335	47	0	560	0	USP35	11	77907849	Frame_Shift_Del	DEL	G	TCGA-DB-A64W-01A-11D-A29Q-08	73518908	77907849	57098667	29	1833											
C12orf40	283461	broad.mit.edu	37	chr12	40041653	40041653	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcagcaaaatagagaactgCagtttcactccatcatcttt	13	13	5	10	0	4	1	3	0	1	1	5	2	5	1	1	0	3	3	1	0	4	4			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr12:40041653C>A	uc001rmc.3	+	5	611	c.444C>A	c.(442-444)tgC>tgA	p.C148*	C12orf40_uc009zjv.1_Non-coding_Transcript	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	148								p.C148Y(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TAGAGAACTGCAGTTTCACTC	0.353													3	20					0.115264	0.115264	1	1	0	A	40041653	C	A	40041653	4	1	46	1	0	0	0	0	0	1	0	0	1686	718	25	5	466	5	C12orf40	12	40041653	Nonsense_Mutation	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08		40041653	93810242	30	1834											
SDS	10993	broad.mit.edu	37	chr12	113830761	113830761	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtcctcacttgggcaacctAtttgtcatgcccagctgttc	6	13	8	14	1	2	0	2	0	0	0	4	0	3	0	3	1	3	3	3	1	2	4			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr12:113830761A>G	uc001tvg.3	-	7	1094	c.972T>C	c.(970-972)aaT>aaC	p.N324N		NM_006843	NP_006834	P20132	SDHL_HUMAN	Homo sapiens serine dehydratase (SDS), mRNA.	324					L-serine catabolic process|gluconeogenesis|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TGGGCAACCTATTTGTCATGC	0.617													138	190					0	0	1	0	0	G	113830761	A	G	113830761	2	3	46	1	0	0	0	0	0	0	0	1	13975	446	16	3		3	SDS	12	113830761	Silent	SNP	A	TCGA-DB-A64W-01A-11D-A29Q-08	73789108	113830761	20021134	31	1835											
KLF5	688	broad.mit.edu	37	chr13	73636332	73636332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tattcagctcacaccagaccGcagctccagaggtgaacaat	13	7	8	13	1	2	3	2	1	0	2	3	3	3	3	3	1	3	3	3	1	3	2			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr13:73636332G>A	uc001vje.3	+	1	919	c.595G>A	c.(595-597)Gca>Aca	p.A199T	KLF5_uc001vjd.3_Missense_Mutation_p.A108T	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Homo sapiens Kruppel-like factor 5 (intestinal) (KLF5), mRNA.	199					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		ACACCAGACCGCAGCTCCAGA	0.532													46	42					0	0	1	0	0	A	73636332	G	A	73636332	3	1	46	1	0	0	0	0	1	0	0	0	8349	1087	38	1	601	1	KLF5	13	73636332	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08		73636332	41533546	32	1836											
CLEC14A	161198	broad.mit.edu	37	chr14	38723787	38723787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agagccaagaggggactccgCcagcaaggcaccctctgctc	10	4	12	15	1	1	2	0	0	1	2	3	3	2	3	4	3	3	3	4	3	2	0			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr14:38723787C>T	uc001wum.1	-	0	1788	c.1441G>A	c.(1441-1443)Gcg>Acg	p.A481T		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	481						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GGGGACTCCGCCAGCAAGGCA	0.547													47	103					0	0	1	0	0	T	38723787	C	T	38723787	3	4	46	1	0	0	0	0	1	0	0	0	3499	739	26	3	35	3	CLEC14A	14	38723787	Missense_Mutation	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08		38723787	68625753	33	1837											
TELO2	9894	broad.mit.edu	37	chr16	1557703	1557703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacgagctgctggaagcccGgtcctggctggcgggtgagt	5	7	19	10	3	0	1	0	1	0	0	1	4	1	3	2	6	3	3	2	6	1	0			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr16:1557703G>A	uc002cly.3	+	19	2684	c.2393G>A	c.(2392-2394)cGg>cAg	p.R798Q		NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae) (TELO2), mRNA.	798						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CTGGAAGCCCGGTCCTGGCTG	0.647													13	22					0	0	1	0	0	A	1557703	G	A	1557703	3	1	46	1	0	0	0	0	1	0	0	0	15754	1116	39	2	2467	2	TELO2	16	1557703	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08		1557703	88797050	34	1838											
PDILT	204474	broad.mit.edu	37	chr16	20387485	20387485	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttctggctaatttgtcGtctcaaccaaacgactaagg	10	13	8	10	2	2	0	1	0	2	0	4	1	2	0	1	2	3	2	1	2	4	4	rs139247719		TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr16:20387485G>A	uc002dhc.1	-	3	671	c.448C>T	c.(448-450)Cga>Tga	p.R150*		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	150					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CTAATTTGTCGTCTCAACCAA	0.463													30	34					0	0	1	0	0	A	20387485	G	A	20387485	4	1	46	1	0	0	0	0	0	1	0	0	11674	1153	40	1	1342	1	PDILT	16	20387485	Nonsense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08	18829782	20387485	69967268	35	1839											
ATXN2L	11273	broad.mit.edu	37	chr16	28847394	28847394	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagagtggggtgcctgcActctcagcttccacaccctc	6	8	9	18	0	1	1	1	0	1	1	4	1	2	1	5	2	3	2	5	2	0	1			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr16:28847394A>G	uc002dqy.3	+	21	3203	c.3036A>G	c.(3034-3036)gcA>gcG	p.A1012A	NPIPL1_uc010vct.2_Intron|ATXN2L_uc002dqz.3_Silent_p.A1012A|ATXN2L_uc002dra.3_Silent_p.A1012A|ATXN2L_uc002drb.3_Silent_p.A1012A|ATXN2L_uc002drc.3_Silent_p.A1012A|ATXN2L_uc010vdb.2_Silent_p.A1018A|ATXN2L_uc002dre.3_Silent_p.A1012A|ATXN2L_uc002drf.3_Silent_p.A421A|ATXN2L_uc002drg.3_Silent_p.A295A	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	1012						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GGGTGCCTGCACTCTCAGCTT	0.687													61	99					0	0	1	0	0	G	28847394	A	G	28847394	2	3	46	1	0	0	0	0	0	0	0	1	1212	146	6	3		3	ATXN2L	16	28847394	Silent	SNP	A	TCGA-DB-A64W-01A-11D-A29Q-08	8459909	28847394	61507359	36	1840											
SEZ6L2	26470	broad.mit.edu	37	chr16	29888271	29888271	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgtcgttcctcgggaccTctgcaggggagggaaggcga	7	7	17	10	4	1	0	0	0	1	0	4	4	2	3	2	5	1	2	2	5	1	1			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr16:29888271T>G	uc010vec.2	-	12	2155	c.1910_splice	c.e12-1	p.E637_splice	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Splice_Site_p.E567_splice|SEZ6L2_uc002dur.4_Splice_Site_p.E567_splice|SEZ6L2_uc002duq.4_Splice_Site_p.E637_splice|SEZ6L2_uc010ved.2_Splice_Site_p.E593_splice|SEZ6L2_uc002dus.4_Splice_Site_p.E523_splice	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	637	CUB 3.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCGGGACCTCTGCAGGGGA	0.667													16	33					0	0	1	0	0	G	29888271	T	G	29888271	5	3	46	1	0	0	0	0	0	0	1	0	14144	1565	54	5	889	5	SEZ6L2	16	29888271	Splice_Site	SNP	T	TCGA-DB-A64W-01A-11D-A29Q-08	1040877	29888271	60466482	37	1841											
TSNAXIP1	55815	broad.mit.edu	37	chr16	67859118	67859118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcctgtaagatcctcatcGcagacctgaatgagctgcgg	10	9	11	11	2	1	4	1	2	0	2	3	4	2	4	3	1	3	3	3	1	2	1			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr16:67859118G>A	uc010vka.2	+	6	833	c.757G>A	c.(757-759)Gca>Aca	p.A253T	TSNAXIP1_uc010cep.2_Missense_Mutation_p.A63T|TSNAXIP1_uc010vjz.1_Missense_Mutation_p.A76T|TSNAXIP1_uc002euf.4_5'UTR|TSNAXIP1_uc010vkb.2_Missense_Mutation_p.A184T|TSNAXIP1_uc002eug.4_5'UTR|TSNAXIP1_uc002euh.4_5'UTR|TSNAXIP1_uc002eui.4_5'UTR|TSNAXIP1_uc002euj.3_Missense_Mutation_p.A199T|TSNAXIP1_uc002euk.3_5'UTR	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	Homo sapiens translin-associated factor X interacting protein 1 (TSNAXIP1), mRNA.	199					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		GATCCTCATCGCAGACCTGAA	0.542													43	57					0	0	1	0	0	A	67859118	G	A	67859118	3	1	46	1	0	0	0	0	1	0	0	0	16629	1087	38	1	613	1	TSNAXIP1	16	67859118	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08	37970847	67859118	22495635	38	1842											
GPS2	2874	broad.mit.edu	37	chr17	7231068	7231068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactcctccaacacagagcGtccatctctcagcacagagc	12	7	6	16	1	2	2	1	0	1	2	6	2	5	2	3	0	5	1	3	0	2	1			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr17:7231068G>A	uc002gga.1	-	1	425	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	GPS2_uc002ggb.1_Missense_Mutation_p.R140C|GPS2_uc002ggc.1_5'Flank	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				AACACAGAGCGTCCATCTCTC	0.642													68	90					0	0	1	0	0	A	7231068	G	A	7231068	3	1	46	1	0	0	0	0	1	0	0	0	6733	1145	40	1		1	GPS2	17	7231068	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08		7231068	73964142	39	1843											
PRKAR1A	5573	broad.mit.edu	37	chr17	66526499	66526499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagtgcgttaagctggaccGacctagatttgaacgtgttc	10	11	12	8	3	0	2	0	1	0	1	1	5	0	3	2	1	3	3	2	1	4	4			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr17:66526499G>A	uc002jhg.3	+	10	1235	c.1055G>A	c.(1054-1056)cGa>cAa	p.R352Q	PRKAR1A_uc002jhh.3_Missense_Mutation_p.R352Q|PRKAR1A_uc002jhi.3_Missense_Mutation_p.R352Q|PRKAR1A_uc002jhj.3_Missense_Mutation_p.R352Q|PRKAR1A_uc002jhk.3_Missense_Mutation_p.R228Q|PRKAR1A_uc002jhl.3_Missense_Mutation_p.R352Q	NM_212471	NP_997637	P10644	KAP0_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) (PRKAR1A), transcript variant 2, mRNA.	352					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					AAGCTGGACCGACCTAGATTT	0.488			"T, Mis, N, F, S"	RET	papillary thyroid	"myxoma, endocrine, papillary thyroid"			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				55	69					0	0	1	0	0	A	66526499	G	A	66526499	3	1	46	1	0	0	0	0	1	0	0	0	12503	1058	37	2	1093	2	PRKAR1A	17	66526499	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08	59295431	66526499	14668711	40	1844											
SMCHD1	23347	broad.mit.edu	37	chr18	2732375	2732375	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggcaattcagatcaaacAtcaggatgaggttaattgga	17	9	10	5	0	3	2	3	1	0	1	3	4	3	4	0	4	1	2	0	4	4	3			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr18:2732375A>G	uc002klm.4	+	24	3350	c.3161A>G	c.(3160-3162)cAt>cGt	p.H1054R	SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_Non-coding_Transcript	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	1054					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CAGATCAAACATCAGGATGAG	0.363													33	50					0	0	1	0	0	G	2732375	A	G	2732375	3	3	46	1	0	0	0	0	1	0	0	0	14788	217	8	3	3259	3	SMCHD1	18	2732375	Missense_Mutation	SNP	A	TCGA-DB-A64W-01A-11D-A29Q-08		2732375	75344873	41	1845											
CIC	23152	broad.mit.edu	37	chr19	42791817	42791817	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaccgtcagcaagatcctgGgcgagtggtggtatgccctg	7	8	16	10	2	1	1	1	0	0	1	2	3	2	2	3	4	2	2	3	4	2	1			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr19:42791817G>T	uc002otf.1	+	4	743	c.703G>T	c.(703-705)Ggc>Tgc	p.G235C		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.I233_L234>M(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGATCCTGGGCGAGTGGTG	0.612			"Mis, F, S"		oligodendroglioma								41	23					2.45108e-15	2.48879e-15	1	1	0	T	42791817	G	T	42791817	3	4	46	1	0	0	0	0	1	0	0	0	3424	1232	43	5	721	5	CIC	19	42791817	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08		42791817	16337166	42	1846											
MMP9	4318	broad.mit.edu	37	chr20	44641108	44641108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcatgagttcggccacgCgctgggcttagatcattcct	6	10	13	12	4	1	2	1	1	0	1	3	2	2	2	2	3	0	4	2	3	1	3			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr20:44641108C>T	uc002xqz.3	+	7	1236	c.1217C>T	c.(1216-1218)gCg>gTg	p.A406V		NM_004994	NP_004985	P14780	MMP9_HUMAN	Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA.	406					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TTCGGCCACGCGCTGGGCTTA	0.637													37	53					0	0	1	0	0	T	44641108	C	T	44641108	3	4	46	1	0	0	0	0	1	0	0	0	9669	768	27	1	1247	1	MMP9	20	44641108	Missense_Mutation	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08		44641108	18384412	43	1847											
ASMTL	8623	broad.mit.edu	37	chrX	1551213	1551213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagctcctcggacagctccGagaacttcaccttcgtttcc	7	10	8	16	3	1	1	1	0	0	1	6	3	4	2	4	1	3	4	4	1	1	3			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chrX:1551213G>A	uc004cpx.2	-	5	595	c.458C>T	c.(457-459)tCg>tTg	p.S153L	CRLF2_uc022brt.1_Intron|ASMTL_uc004cpy.2_Missense_Mutation_p.S137L|ASMTL_uc011mhe.2_Missense_Mutation_p.S77L|ASMTL_uc011mhf.2_Missense_Mutation_p.S95L	NM_004192	NP_001166944	O95671	ASML_HUMAN	Homo sapiens acetylserotonin O-methyltransferase-like (ASMTL), transcript variant 1, mRNA.	153	MAF-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGACAGCTCCGAGAACTTCAC	0.637													27	18					0	0	1	0	0	A	1551213	G	A	1551213	3	1	46	1	0	0	0	0	1	0	0	0	1046	1059	37	2	1439	2	ASMTL	23	1551213	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08		1551213	153719347	44	1848											
NHS	4810	broad.mit.edu	37	chrX	17744930	17744930	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaacacgccttctcgaatgGaaaacgccaatcttcccacc	12	7	5	17	3	2	0	0	0	2	0	4	2	3	1	5	1	2	0	5	1	5	2			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chrX:17744930G>T	uc011mix.2	+	6	3042	c.2704G>T	c.(2704-2706)Gaa>Taa	p.E902*	NHS_uc004cxx.3_Nonsense_Mutation_p.E881*|NHS_uc004cxy.3_Nonsense_Mutation_p.E725*|NHS_uc004cxz.3_Nonsense_Mutation_p.E704*|NHS_uc004cya.3_Nonsense_Mutation_p.E604*	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	881						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TTCTCGAATGGAAAACGCCAA	0.468													68	78					1.34159e-35	1.38352e-35	1	1	0	T	17744930	G	T	17744930	4	4	46	1	0	0	0	0	0	1	0	0	10411	1175	41	5	2768	5	NHS	23	17744930	Nonsense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08	16193717	17744930	137525630	45	1849											
GK	2710	broad.mit.edu	37	chrX	30739086	30739086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctgccgtcacgatggagcGgtttgaacctcagattaatg	9	11	12	9	3	3	2	2	1	1	1	3	4	3	3	2	2	3	1	2	2	2	2			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chrX:30739086G>A	uc022buj.1	+	17	1654	c.1475G>A	c.(1474-1476)cGg>cAg	p.R492Q	GK_uc004dch.4_Missense_Mutation_p.R492Q|GK_uc010ngj.3_Missense_Mutation_p.R486Q|GK_uc004dci.4_Missense_Mutation_p.R486Q|GK_uc011mjz.2_Missense_Mutation_p.R287Q|GK_uc011mka.2_Missense_Mutation_p.R329Q|GK_uc010ngk.3_Missense_Mutation_p.R281Q	NM_001205019	NP_001191948	P32189	GLPK_HUMAN	Homo sapiens glycerol kinase (GK), transcript variant 4, mRNA.	492					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity	p.R492W(1)		central_nervous_system(1)|large_intestine(3)	4						ACGATGGAGCGGTTTGAACCT	0.502													21	25					0	0	1	0	0	A	30739086	G	A	30739086	3	1	46	1	0	0	0	0	1	0	0	0	6420	1116	39	2	1545	2	GK	23	30739086	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08	12994156	30739086	124531474	46	1850											
BCOR	54880	broad.mit.edu	37	chrX	39930292	39930292	+	Frame_Shift_Del	DEL	G	G	-																															cgactttggctttttgtcctGatttcctttcaacctttccc																										TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chrX:39930292delG	uc004den.4	-	5	3464	c.3172delC	c.(3172-3174)cagfs	p.Q1058fs	BCOR_uc004dep.4_Frame_Shift_Del_p.Q1058fs|BCOR_uc004deo.4_Frame_Shift_Del_p.Q1040fs|BCOR_uc004dem.4_Frame_Shift_Del_p.Q1058fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1058					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						TTTTTGTCCTGATTTCCTTTC	0.493			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						40	58	---	---	---	---						-	39930292	G	-	39930292	7	5	46	1	0	1	0	1	0	0	0	0	1386	1299	45	0	2135	0	BCOR	23	39930292	Frame_Shift_Del	DEL	G	TCGA-DB-A64W-01A-11D-A29Q-08	9191206	39930292	115340268	47	1851											
TRO	7216	broad.mit.edu	37	chrX	54957391	54957391	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttggtggtggaccgagcAccagtgctggctttggcagt	5	11	16	9	1	0	0	0	0	0	0	0	2	0	1	2	5	2	5	2	5	0	2			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chrX:54957391A>T	uc004dtq.3	+	11	4341	c.4234A>T	c.(4234-4236)Acc>Tcc	p.T1412S	TRO_uc004dts.3_Intron|TRO_uc004dtr.3_Intron|TRO_uc004dtt.3_Non-coding_Transcript|TRO_uc004dtu.3_Non-coding_Transcript|TRO_uc004dtv.3_Intron|TRO_uc011mok.2_Missense_Mutation_p.T943S|TRO_uc004dtw.3_Missense_Mutation_p.T1015S|TRO_uc004dtx.3_Missense_Mutation_p.T795S	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	Homo sapiens trophinin (TRO), transcript variant 6, mRNA.	1412	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TGGACCGAGCACCAGTGCTGG	0.587													23	26					0	0	1	0	0	T	54957391	A	T	54957391	3	4	46	1	0	0	0	0	1	0	0	0	16571	159	6	5	4276	5	TRO	23	54957391	Missense_Mutation	SNP	A	TCGA-DB-A64W-01A-11D-A29Q-08	15027099	54957391	100313169	48	1852											
CXorf26	51260	broad.mit.edu	37	chrX	75397598	75397598	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgacagtggagaagaagagaAcaccaagaatggaggagaga	19	3	15	4	0	0	6	0	1	0	5	0	11	0	8	1	3	1	0	1	3	5	0			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chrX:75397598A>T	uc004ecl.1	+	5	760	c.557A>T	c.(556-558)aAc>aTc	p.N186I		NM_016500	NP_057584	Q9BVG4	CX026_HUMAN	Homo sapiens chromosome X open reading frame 26 (CXorf26), mRNA.	186										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)	14						gaagaagagaacaccaagaat	0.413													11	16					0	0	1	0	0	T	75397598	A	T	75397598	3	4	46	1	0	0	0	0	1	0	0	0	4104	43	2	5	579	5	CXorf26	23	75397598	Missense_Mutation	SNP	A	TCGA-DB-A64W-01A-11D-A29Q-08	20440207	75397598	79872962	49	1853											
USP26	83844	broad.mit.edu	37	chrX	132159579	132159579	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttctcttttcaacatctcTtcaaagatctcattatgcat	10	18	2	11	0	6	1	3	0	4	1	9	1	6	1	0	0	2	1	0	0	3	5			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chrX:132159579T>C	uc011mvf.2	-	0	2722	c.2670A>G	c.(2668-2670)gaA>gaG	p.E890E	USP26_uc010nrm.1_Silent_p.E890E	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	890					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TCAACATCTCTTCAAAGATCT	0.458													29	38					0	0	1	0	0	C	132159579	T	C	132159579	2	2	46	1	0	0	0	0	0	0	0	1	17054	1606	56	4		4	USP26	23	132159579	Silent	SNP	T	TCGA-DB-A64W-01A-11D-A29Q-08	56761981	132159579	23110981	50	1854											
GPR112	139378	broad.mit.edu	37	chrX	135405392	135405392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgaggttaaaagcatgatgCgtagctttcctggcagcttg	9	11	13	8	2	0	1	0	1	0	0	1	2	1	1	1	2	4	6	1	2	3	4			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chrX:135405392C>T	uc004ezu.1	+	4	817	c.526C>T	c.(526-528)Cgt>Tgt	p.R176C	GPR112_uc010nsb.1_Intron	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	176					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R176S(4)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AAGCATGATGCGTAGCTTTCC	0.448													79	85					0	0	1	0	0	T	135405392	C	T	135405392	3	4	46	1	0	0	0	0	1	0	0	0	6629	768	27	1	532	1	GPR112	23	135405392	Missense_Mutation	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08	3245813	135405392	19865168	51	1855											
AFF2	2334	broad.mit.edu	37	chrX	148068962	148068962	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgcaatggggaactgtaacaAtggcccagtcaccattcccc	11	7	9	14	1	1	0	1	0	0	0	2	1	2	1	4	3	2	2	4	3	4	2			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chrX:148068962A>G	uc004fcp.3	+	19	4168	c.3689A>G	c.(3688-3690)aAt>aGt	p.N1230S	AFF2_uc004fcq.3_Missense_Mutation_p.N1220S|AFF2_uc004fcr.3_Missense_Mutation_p.N1191S|AFF2_uc011mxb.2_Missense_Mutation_p.N1195S|AFF2_uc004fcs.3_Missense_Mutation_p.N1195S|AFF2_uc011mxc.2_Missense_Mutation_p.N871S	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	1230					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AACTGTAACAATGGCCCAGTC	0.532													67	86					0	0	1	0	0	G	148068962	A	G	148068962	3	3	46	1	0	0	0	0	1	0	0	0	357	101	4	3	3822	3	AFF2	23	148068962	Missense_Mutation	SNP	A	TCGA-DB-A64W-01A-11D-A29Q-08	12663570	148068962	7201598	52	1856											
PRDM2	7799	broad.mit.edu	37	chr1	14107261	14107261	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctccgccccctcccctccttCctaccgtacctcttccagcc	3	10	3	25	2	1	0	0	0	1	0	6	0	6	0	11	0	3	1	11	0	2	4			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:14107261C>G	uc001avi.3	+	7	3827	c.2971C>G	c.(2971-2973)Cct>Gct	p.P991A	PRDM2_uc001avg.3_Intron|PRDM2_uc001avh.3_Missense_Mutation_p.P991A|PRDM2_uc021ogk.1_Missense_Mutation_p.P754A|PRDM2_uc001avk.3_Missense_Mutation_p.P790A|PRDM2_uc009voe.3_Intron|PRDM2_uc009vof.3_Intron	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.	991	Pro-rich.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TCCCCTCCTTCCTACCGTACC	0.602													8	114					0	0	1	0	0	G	14107261	C	G	14107261	3	3	47	1	0	0	0	0	1	0	0	0	12458	855	30	5	2997	5	PRDM2	1	14107261	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08		14107261	235143360	1	1857											
EIF4G3	8672	broad.mit.edu	37	chr1	21306934	21306934	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacataaggagggccactaTgacggtactagaaaagagaa	18	5	11	7	1	0	3	0	1	0	2	0	5	0	4	1	3	2	1	1	3	8	4			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:21306934T>C	uc001bec.3	-	4	474	c.218A>G	c.(217-219)cAt>cGt	p.H73R	EIF4G3_uc010odj.2_Missense_Mutation_p.H73R|EIF4G3_uc009vpz.3_Missense_Mutation_p.H73R|EIF4G3_uc001bef.3_Missense_Mutation_p.H73R|EIF4G3_uc001bee.3_Missense_Mutation_p.H80R|EIF4G3_uc001beg.3_Missense_Mutation_p.H73R|EIF4G3_uc010odk.2_Missense_Mutation_p.H73R|EIF4G3_uc001beh.3_Missense_Mutation_p.H84R	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	73					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AGGGCCACTATGACGGTACTA	0.423													4	14					0	0	1	0	0	C	21306934	T	C	21306934	3	2	47	1	0	0	0	0	1	0	0	0	5038	1464	51	3	4651	3	EIF4G3	1	21306934	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	7199673	21306934	227943687	2	1858											
HSPG2	3339	broad.mit.edu	37	chr1	22159014	22159014	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgggccttccccccacgagGccgaaggagatgaagtcggg	8	5	15	13	4	0	2	0	1	0	1	3	5	1	2	5	4	0	0	5	4	2	1			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:22159014G>A	uc009vqd.3	-	80	11224	c.11184C>T	c.(11182-11184)ggC>ggT	p.G3728G	HSPG2_uc001bfi.3_5'Flank|HSPG2_uc001bfj.3_Silent_p.G3727G	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	3727	Laminin G-like 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCCCCACGAGGCCGAAGGAGA	0.662													46	33					0	0	1	0	0	A	22159014	G	A	22159014	2	1	47	1	0	0	0	0	0	0	0	1	7430	1190	42	3		3	HSPG2	1	22159014	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	852080	22159014	227091607	3	1859											
EPHA8	2046	broad.mit.edu	37	chr1	22913059	22913059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccactccgcagctccagccGcccaagcctgccactgtgac	7	5	9	20	2	0	1	0	1	0	0	2	1	2	1	7	0	4	2	7	0	1	0			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:22913059G>A	uc001bfx.1	+	3	1035	c.910G>A	c.(910-912)Gcc>Acc	p.A304T	EPHA8_uc001bfw.3_Missense_Mutation_p.A304T	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	304	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.A304T(3)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGCTCCAGCCGCCCAAGCCTG	0.657													9	66					0	0	1	0	0	A	22913059	G	A	22913059	3	1	47	1	0	0	0	0	1	0	0	0	5173	1087	38	1	924	1	EPHA8	1	22913059	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	754045	22913059	226337562	4	1860											
SYTL1	84958	broad.mit.edu	37	chr1	27674019	27674019	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgcccacttcggctctgAccttgtccgagcgtctatgc	6	11	9	15	3	2	1	0	1	2	0	4	2	3	1	3	1	3	1	3	1	2	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:27674019A>T	uc001bnw.2	+	2	496	c.299A>T	c.(298-300)gAc>gTc	p.D100V	SYTL1_uc001bnv.2_Missense_Mutation_p.D100V|SYTL1_uc001bnx.2_Missense_Mutation_p.D100V|SYTL1_uc009vsv.2_Missense_Mutation_p.D100V	NM_001193308	NP_001180237	Q8IYJ3	SYTL1_HUMAN	Homo sapiens synaptotagmin-like 1 (SYTL1), transcript variant 1, mRNA.	100					exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	Rab GTPase binding|neurexin binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TTCGGCTCTGACCTTGTCCGA	0.642													5	70					0	0	1	0	0	T	27674019	A	T	27674019	3	4	47	1	0	0	0	0	1	0	0	0	15479	275	10	5	305	5	SYTL1	1	27674019	Missense_Mutation	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	4760960	27674019	221576602	5	1861											
EPHA10	284656	broad.mit.edu	37	chr1	38184352	38184352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcagtcatctcggccaCggcctccaggctcccatagc	6	7	11	17	2	2	0	1	0	1	0	5	0	4	0	4	4	1	2	4	4	1	1			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:38184352C>T	uc009vvi.3	-	15	2979	c.2893G>A	c.(2893-2895)Gtg>Atg	p.V965M	EPHA10_uc001cbt.3_Non-coding_Transcript|EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	965	SAM.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ATCTCGGCCACGGCCTCCAGG	0.667													5	48					0	0	1	0	0	T	38184352	C	T	38184352	3	4	47	1	0	0	0	0	1	0	0	0	5166	536	19	1	141	1	EPHA10	1	38184352	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	10510333	38184352	211066269	6	1862											
ZMYND12	84217	broad.mit.edu	37	chr1	42915623	42915623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgcaggccatgctgcCgttcttcctctgaattgtag	5	13	11	12	1	2	1	0	1	2	0	3	1	3	1	3	1	4	6	3	1	2	4			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:42915623C>T	uc001chj.3	-	1	488	c.218G>A	c.(217-219)cGg>cAg	p.R73Q	ZMYND12_uc010ojt.2_Silent_p.T20T	NM_032257	NP_115633	Q9H0C1	ZMY12_HUMAN	Homo sapiens zinc finger, MYND-type containing 12 (ZMYND12), transcript variant 1, mRNA.	73						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCCATGCTGCCGTTCTTCCTC	0.547													4	61					0	0	1	0	0	T	42915623	C	T	42915623	3	4	47	1	0	0	0	0	1	0	0	0	17704	652	23	2	907	2	ZMYND12	1	42915623	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	4731271	42915623	206334998	7	1863											
KDM4A	9682	broad.mit.edu	37	chr1	44132737	44132737	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttgctacccgtcggtggaTtgagtacggcaagcaagctg	8	11	13	9	3	0	1	0	1	0	0	1	2	0	2	1	3	5	5	1	3	4	5			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:44132737T>C	uc001cjx.3	+	7	1056	c.890T>C	c.(889-891)aTt>aCt	p.I297T	KDM4A_uc010oki.2_Missense_Mutation_p.I297T	NM_014663	NP_055478	O75164	KDM4A_HUMAN	Homo sapiens lysine (K)-specific demethylase 4A (KDM4A), mRNA.	297	JmjC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						CGTCGGTGGATTGAGTACGGC	0.443													4	79					0	0	1	0	0	C	44132737	T	C	44132737	3	2	47	1	0	0	0	0	1	0	0	0	8128	1493	52	3	916	3	KDM4A	1	44132737	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	1217114	44132737	205117884	8	1864											
CYP4A22	284541	broad.mit.edu	37	chr1	47607808	47607808	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgctcctgttgaatgggcaGacatggttccagcatcgacg	8	11	12	10	2	0	2	0	1	0	1	3	3	2	2	2	2	2	5	2	2	1	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:47607808G>C	uc001cqv.1	+	3	462	c.411G>C	c.(409-411)caG>caC	p.Q137H	CYP4A22_uc009vyo.3_Missense_Mutation_p.Q137H|CYP4A22_uc009vyp.3_Missense_Mutation_p.Q137H	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	137						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGAATGGGCAGACATGGTTCC	0.532													33	49					0	0	1	0	0	C	47607808	G	C	47607808	3	2	47	1	0	0	0	0	1	0	0	0	4184	933	33	5	425	5	CYP4A22	1	47607808	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	3475071	47607808	201642813	9	1865											
NEGR1	257194	broad.mit.edu	37	chr1	72163701	72163701	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacacttacagttgacaacAacttttactttcctcacatc	12	14	3	12	0	1	2	1	2	0	0	3	2	2	2	1	0	4	1	1	0	4	5			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:72163701A>G	uc001dfw.3	-	3	885	c.657T>C	c.(655-657)gtT>gtC	p.V219V	NEGR1_uc001dfv.3_Silent_p.V91V|NEGR1_uc010oqs.2_Intron	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	Homo sapiens neuronal growth regulator 1 (NEGR1), mRNA.	219	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		AGTTGACAACAACTTTTACTT	0.348													16	16					0	0	1	0	0	G	72163701	A	G	72163701	2	3	47	1	0	0	0	0	0	0	0	1	10317	117	5	3		3	NEGR1	1	72163701	Silent	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	24555893	72163701	177086920	10	1866											
ZNF644	84146	broad.mit.edu	37	chr1	91406264	91406264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctacttgatttattaaagtgCcatctgactttatattactc	11	18	4	8	0	1	2	0	2	1	0	2	2	1	2	1	0	3	0	1	0	7	9			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:91406264C>T	uc001dnw.3	-	2	930	c.647G>A	c.(646-648)gGc>gAc	p.G216D	ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron|ZNF644_uc001dny.2_Missense_Mutation_p.G216D	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TATTAAAGTGCCATCTGACTT	0.388													4	140					0	0	1	0	0	T	91406264	C	T	91406264	3	4	47	1	0	0	0	0	1	0	0	0	18057	739	26	3	3352	3	ZNF644	1	91406264	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	19242563	91406264	157844357	11	1867											
SLC30A7	148867	broad.mit.edu	37	chr1	101377773	101377773	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgttttcaaacatggaggtCatggacattctcatggctct	9	15	9	8	0	4	0	3	0	2	0	5	2	4	2	0	4	1	2	0	4	1	4			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:101377773C>T	uc001dtn.2	+	4	677	c.490C>T	c.(490-492)Cat>Tat	p.H164Y	SLC30A7_uc001dto.2_Missense_Mutation_p.H164Y	NM_001144884	NP_598003	Q8NEW0	ZNT7_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 7 (SLC30A7), transcript variant 2, mRNA.	164	His-rich loop.				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding	p.G163C(1)		endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		ACATGGAGGTCATGGACATTC	0.373													5	128					0	0	1	0	0	T	101377773	C	T	101377773	3	4	47	1	0	0	0	0	1	0	0	0	14560	826	29	3	508	3	SLC30A7	1	101377773	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	9971509	101377773	147872848	12	1868											
AHCYL1	10768	broad.mit.edu	37	chr1	110551714	110551714	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attccccaccaaaactggccGaagatctttgtctcgctcga	10	10	7	14	3	2	1	0	0	2	1	5	3	3	1	4	1	1	1	4	1	3	2			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:110551714G>A	uc001dyx.3	+	1	467	c.179G>A	c.(178-180)cGa>cAa	p.R60Q	AHCYL1_uc010ovw.2_Missense_Mutation_p.R13Q|AHCYL1_uc021ork.1_Missense_Mutation_p.R13Q|AHCYL1_uc010ovx.2_Missense_Mutation_p.R13Q|AHCYL1_uc001dyy.3_Missense_Mutation_p.R13Q	NM_006621	NP_001229605	O43865	SAHH2_HUMAN	Homo sapiens adenosylhomocysteinase-like 1 (AHCYL1), transcript variant 1, mRNA.	60					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		AAAACTGGCCGAAGATCTTTG	0.433													24	57					0	0	1	0	0	A	110551714	G	A	110551714	3	1	47	1	0	0	0	0	1	0	0	0	410	1058	37	2	185	2	AHCYL1	1	110551714	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	9173941	110551714	138698907	13	1869											
ARHGEF11	9826	broad.mit.edu	37	chr1	156916463	156916463	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaggacgcacctgcatgaaGagctggaatcgactctcctt	11	8	10	12	2	1	2	0	1	1	1	3	5	1	4	2	2	2	3	2	2	3	1			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:156916463G>C	uc001fqo.3	-	26	3605	c.2565C>G	c.(2563-2565)ctC>ctG	p.L855L	ARHGEF11_uc010phu.2_Silent_p.L271L|ARHGEF11_uc001fqn.3_Silent_p.L895L	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	855	DH.				G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTGCATGAAGAGCTGGAATC	0.522													4	210					0	0	1	0	0	C	156916463	G	C	156916463	2	2	47	1	0	0	0	0	0	0	0	1	896	929	33	5		5	ARHGEF11	1	156916463	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	46364749	156916463	92334158	14	1870											
FMO4	2329	broad.mit.edu	37	chr1	171300885	171300885	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttgggaacactggaggAgacattgctgtggaactcag	10	9	15	7	0	2	1	1	0	1	1	2	5	2	4	0	5	3	1	0	5	2	2			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:171300885A>G	uc001gho.3	+	5	808	c.591A>G	c.(589-591)ggA>ggG	p.G197G		NM_002022	NP_002013	P31512	FMO4_HUMAN	Homo sapiens flavin containing monooxygenase 4 (FMO4), mRNA.	197					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					ACACTGGAGGAGACATTGCTG	0.458													5	136					0	0	1	0	0	G	171300885	A	G	171300885	2	3	47	1	0	0	0	0	0	0	0	1	5957	291	11	4		4	FMO4	1	171300885	Silent	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	14384422	171300885	77949736	15	1871											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220364615	220364615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaatccatccaatttgtgCgtcgcggtacccttagagac	9	12	9	11	3	0	2	0	1	0	1	3	3	2	2	3	1	2	1	3	1	4	4			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:220364615C>T	uc010puk.1	-	13	1446	c.1282G>A	c.(1282-1284)Gca>Aca	p.A428T	RAB3GAP2_uc021pjf.1_Missense_Mutation_p.A428T|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.A8T	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	428					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	p.A428T(4)|p.D427N(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CCAATTTGTGCGTCGCGGTAC	0.468													9	13					0	0	1	0	0	T	220364615	C	T	220364615	3	4	47	1	0	0	0	0	1	0	0	0	12936	768	27	1	2987	1	RAB3GAP2	1	220364615	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	49063730	220364615	28886006	16	1872											
MIA3	375056	broad.mit.edu	37	chr1	222801580	222801580	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacagatggggaagatatgAaaactccagcaaagtctggc	15	8	11	7	0	1	3	0	1	1	2	2	4	2	4	1	3	3	1	1	3	6	2			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:222801580A>G	uc001hnl.3	+	3	1027	c.1018A>G	c.(1018-1020)Aaa>Gaa	p.K340E	MIA3_uc009xea.1_Missense_Mutation_p.K176E	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	340					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GGAAGATATGAAAACTCCAGC	0.413													33	41					0	0	1	0	0	G	222801580	A	G	222801580	3	3	47	1	0	0	0	0	1	0	0	0	9565	247	9	3	1032	3	MIA3	1	222801580	Missense_Mutation	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	2436965	222801580	26449041	17	1873											
OR2T2	401992	broad.mit.edu	37	chr1	248616334	248616334	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctacatctgtatcactgTccccaagatgctccaggacc	10	10	6	15	0	3	1	1	0	2	1	5	2	5	2	4	1	2	2	4	1	3	2			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:248616334T>C	uc001iek.1	+	0	236	c.236T>C	c.(235-237)gTc>gCc	p.V79A		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTATCACTGTCCCCAAGATG	0.522													8	187					0	0	1	0	0	C	248616334	T	C	248616334	3	2	47	1	0	0	0	0	1	0	0	0	11020	1667	58	3	238	3	OR2T2	1	248616334	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	25814754	248616334	634287	18	1874											
TTN	7273	broad.mit.edu	37	chr2	179395863	179395863	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctttacgcagccaggtcAcagttggtaccggctcacca	8	9	10	14	2	2	0	2	0	0	0	3	0	3	0	4	3	3	4	4	3	2	4			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr2:179395863A>G	uc021vsy.1	-	306	98000	c.97775T>C	c.(97774-97776)gTg>gCg	p.V32592A	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V26287A|TTN_uc021vta.1_Missense_Mutation_p.V26220A|TTN_uc021vtb.1_Missense_Mutation_p.V26095A|TTN_uc002umq.3_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33519							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCCAGGTCACAGTTGGTAC	0.512													89	132					0	0	1	0	0	G	179395863	A	G	179395863	3	3	47	1	0	0	0	0	1	0	0	0	16732	159	6	3	2520	3	TTN	2	179395863	Missense_Mutation	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08		179395863	63803510	19	1875											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								13	19					0	0	1	0	0	T	209113112	C	T	209113112	3	4	47	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	29717249	209113112	34086261	20	1876											
FANCD2	2177	broad.mit.edu	37	chr3	10123119	10123119	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttcctgctatcagaggctGctgcagatttttcatgggct	6	15	10	10	0	3	2	2	0	1	2	4	2	4	2	1	2	3	5	1	2	1	4			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr3:10123119G>A	uc003buw.3	+	31	3273	c.3195G>A	c.(3193-3195)ctG>ctA	p.L1065L	FANCD2_uc003bux.1_Silent_p.L1065L|FANCD2_uc003buy.1_Silent_p.L1065L|FANCD2_uc010hcw.1_Non-coding_Transcript|C3orf24_uc003buz.3_3'UTR	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	1065					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		ATCAGAGGCTGCTGCAGATTT	0.418			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	153					0	0	1	0	0	A	10123119	G	A	10123119	2	1	47	1	0	0	0	0	0	0	0	1	5665	1306	46	3		3	FANCD2	3	10123119	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08		10123119	187899311	21	1877											
STAB1	23166	broad.mit.edu	37	chr3	52554824	52554824	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcctttggcccagggcaGccctgaggcctgctggcgct	4	8	14	15	1	0	1	0	1	0	0	1	2	1	1	4	4	2	3	4	4	0	1			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr3:52554824G>T	uc003dej.3	+	54	5785	c.5711G>T	c.(5710-5712)aGc>aTc	p.S1904I	STAB1_uc003dek.1_5'UTR|STAB1_uc003del.3_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1904					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)		GCCCAGGGCAGCCCTGAGGCC	0.652													19	353					2.4624e-09	2.56331e-09	1	1	0	T	52554824	G	T	52554824	3	4	47	1	0	0	0	0	1	0	0	0	15236	971	34	5	5929	5	STAB1	3	52554824	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	42431705	52554824	145467606	22	1878											
POLQ	10721	broad.mit.edu	37	chr3	121206245	121206245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaatcgctttttgcaccGccactccttaatgaatgttt	10	14	7	10	2	0	1	0	1	0	0	2	2	1	2	3	1	1	3	3	1	4	4			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr3:121206245G>A	uc003eee.4	-	15	5662	c.5533C>T	c.(5533-5535)Cgg>Tgg	p.R1845W	POLQ_uc003eed.3_Missense_Mutation_p.R1017W	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	1845					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTTTTGCACCGCCACTCCTTA	0.383								DNA polymerases (catalytic subunits)					4	47					0	0	1	0	0	A	121206245	G	A	121206245	3	1	47	1	0	0	0	0	1	0	0	0	12208	1086	38	1	2299	1	POLQ	3	121206245	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	68651421	121206245	76816185	23	1879											
RYK	6259	broad.mit.edu	37	chr3	133878164	133878164	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgaaggggtcaatgtccacGtagggagtctggcccagagt	9	8	15	9	2	2	1	1	0	1	1	4	3	3	2	2	4	0	1	2	4	3	1			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr3:133878164G>A	uc003eqc.1	-	14	1724	c.1626C>T	c.(1624-1626)taC>taT	p.Y542Y	RYK_uc003eqd.1_Silent_p.Y539Y	NM_001005861	NP_001005861	P34925	RYK_HUMAN	Homo sapiens RYK receptor-like tyrosine kinase (RYK), transcript variant 1, mRNA.	540	Protein kinase.				Wnt receptor signaling pathway|corpus callosum development|positive regulation of MAPKKK cascade	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						CAATGTCCACGTAGGGAGTCT	0.488													6	26					0	0	1	0	0	A	133878164	G	A	133878164	2	1	47	1	0	0	0	0	0	0	0	1	13767	1140	40	1		1	RYK	3	133878164	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	12671919	133878164	64144266	24	1880											
LPHN3	23284	broad.mit.edu	37	chr4	62800561	62800561	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttcatcctcttgtaggcaAtggtcgagacagttaacaac	11	13	8	9	1	2	1	1	0	1	1	4	2	3	1	1	2	2	3	1	2	4	5			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:62800561A>G	uc010ihh.3	+	10	2085	c.1912A>G	c.(1912-1914)Atg>Gtg	p.M638V	LPHN3_uc003hcq.4_Missense_Mutation_p.M638V|LPHN3_uc003hct.3_Missense_Mutation_p.M31V|LPHN3_uc003hcs.1_Missense_Mutation_p.M454V	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	625					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTTGTAGGCAATGGTCGAGAC	0.493													3	24					0	0	1	0	0	G	62800561	A	G	62800561	3	3	47	1	0	0	0	0	1	0	0	0	8917	101	4	3	1954	3	LPHN3	4	62800561	Missense_Mutation	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08		62800561	128353715	25	1881											
TMPRSS11F	389208	broad.mit.edu	37	chr4	68930540	68930540	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctgaaccaaagcaatgTcattttcatttgtttctcta	12	15	6	8	0	3	2	2	1	1	1	4	2	3	2	1	0	3	3	1	0	4	5	rs145412545		TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:68930540T>C	uc003hdt.1	-	7	927	c.878A>G	c.(877-879)gAc>gGc	p.D293G	LOC550112_uc003hdl.4_Intron|BC041902_uc011cak.2_Intron|SYT14L_uc010ihn.3_5'Flank|SYT14L_uc021xou.1_5'Flank	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	Homo sapiens transmembrane protease, serine 11F (TMPRSS11F), mRNA.	293	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						CAAAGCAATGTCATTTTCATT	0.378													5	28					0	0	1	0	0	C	68930540	T	C	68930540	3	2	47	1	0	0	0	0	1	0	0	0	16240	1667	58	3	450	3	TMPRSS11F	4	68930540	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	6129979	68930540	122223736	26	1882											
ENAM	10117	broad.mit.edu	37	chr4	71510353	71510353	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcatcactcttccaccacCggaactccatctagcgatgg	11	8	7	15	2	3	0	1	0	2	0	5	2	5	1	4	2	3	1	4	2	3	2			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:71510353C>T	uc011caw.1	+	8	3491	c.3210C>T	c.(3208-3210)acC>acT	p.T1070T		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	1070					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CTTCCACCACCGGAACTCCAT	0.448													5	83					0	0	1	0	0	T	71510353	C	T	71510353	2	4	47	1	0	0	0	0	0	0	0	1	5112	639	23	2		2	ENAM	4	71510353	Silent	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	2579813	71510353	119643923	27	1883											
CXCL5	6374	broad.mit.edu	37	chr4	74863731	74863731	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcaaagtgacaagtacccGtccaaaattttctggatgac	14	10	8	9	1	2	2	1	2	1	0	3	4	3	3	2	1	1	1	2	1	5	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:74863731G>A	uc003hhk.3	-	2	442	c.324C>T	c.(322-324)gaC>gaT	p.D108D		NM_002994	NP_002985	P42830	CXCL5_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 5 (CXCL5), mRNA.	108					cell-cell signaling|chemotaxis|immune response|positive regulation of cell proliferation|signal transduction	extracellular space	chemokine activity	p.D108D(2)		endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			ACAAGTACCCGTCCAAAATTT	0.388													35	45					0	0	1	0	0	A	74863731	G	A	74863731	2	1	47	1	0	0	0	0	0	0	0	1	4087	1136	40	1		1	CXCL5	4	74863731	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	3353378	74863731	116290545	28	1884											
SEPT11	55752	broad.mit.edu	37	chr4	77941664	77941664	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcttgtagttgagaatgAaaatcattgcgattttgtga	11	16	9	5	1	2	3	1	3	1	1	3	5	2	3	0	0	1	2	0	0	4	6			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:77941664A>G	uc011cca.2	+	8	1176	c.824A>G	c.(823-825)gAa>gGa	p.E275G	SEPT11_uc010ijh.1_Missense_Mutation_p.E257G|SEPT11_uc003hkj.3_Missense_Mutation_p.E265G|SEPT11_uc003hkk.1_Missense_Mutation_p.E65G			Q9NVA2	SEP11_HUMAN	Homo sapiens septin 11 (SEPT11), mRNA.	265					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding	p.R274*(1)		endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						GTTGAGAATGAAAATCATTGC	0.453													8	75					0	0	1	0	0	G	77941664	A	G	77941664	3	3	47	1	0	0	0	0	1	0	0	0	14061	246	9	3	820	3	SEPT11	4	77941664	Missense_Mutation	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	3077933	77941664	113212612	29	1885											
BMP2K	55589	broad.mit.edu	37	chr4	79792136	79792136	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagcagcagcaacagcaAcagcagcagcagcagcagca	16	0	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	0			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:79792136A>G	uc003hlk.3	+	10	1597	c.1431A>G	c.(1429-1431)caA>caG	p.Q477Q	BMP2K_uc010ijl.1_Non-coding_Transcript|BMP2K_uc003hlj.3_Silent_p.Q477Q|BMP2K_uc003hll.3_5'Flank	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	Homo sapiens BMP2 inducible kinase (BMP2K), transcript variant 1, mRNA.	477	Gln/His-rich.			Missing (in Ref. 2; CAB70863).		nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						agcaacagcaacagcagcagc	0.507													5	62					0	0	1	0	0	G	79792136	A	G	79792136	2	3	47	1	0	0	0	0	0	0	0	1	1460	40	2	3		3	BMP2K	4	79792136	Silent	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	1850472	79792136	111362140	30	1886											
MMRN1	22915	broad.mit.edu	37	chr4	90816198	90816198	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttaacaacagtaagcatTcttggactatacctgaggat	13	11	9	8	0	1	1	0	1	1	0	1	3	1	3	1	3	4	3	1	3	5	6			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:90816198T>C	uc003hst.3	+	0	147	c.76T>C	c.(76-78)Tct>Cct	p.S26P	MMRN1_uc010iku.3_Missense_Mutation_p.S26P	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	26					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CAGTAAGCATTCTTGGACTAT	0.428													25	93					0	0	1	0	0	C	90816198	T	C	90816198	3	2	47	1	0	0	0	0	1	0	0	0	9670	1783	62	3	78	3	MMRN1	4	90816198	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	11024062	90816198	100338078	31	1887											
MMRN1	22915	broad.mit.edu	37	chr4	90833188	90833188	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctggatacagtgggccgaaAtgtcaactaagaggtacact	13	8	11	9	1	1	1	1	0	0	1	1	3	1	2	2	3	3	1	2	3	5	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:90833188A>G	uc003hst.3	+	2	908	c.837A>G	c.(835-837)aaA>aaG	p.K279K	MMRN1_uc010iku.3_Silent_p.K245K|MMRN1_uc011cds.2_Silent_p.K21K	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	279	EMI.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GTGGGCCGAAATGTCAACTAA	0.368													13	10					0	0	1	0	0	G	90833188	A	G	90833188	2	3	47	1	0	0	0	0	0	0	0	1	9670	98	4	3		3	MMRN1	4	90833188	Silent	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	16990	90833188	100321088	32	1888											
FAT1	2195	broad.mit.edu	37	chr4	187629810	187629810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatgggaataagcaggaatgGcctttaccatgaccacaggt	14	8	11	8	0	0	1	0	1	0	0	0	3	0	3	3	4	2	1	3	4	5	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:187629810G>A	uc003izf.3	-	1	1360	c.1172C>T	c.(1171-1173)gCc>gTc	p.A391V	FAT1_uc010iso.1_Missense_Mutation_p.A391V	NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	391	Cadherin 3.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGCAGGAATGGCCTTTACCAT	0.388										HNSCC(5;0.00058)			12	78					0	0	1	0	0	A	187629810	G	A	187629810	3	1	47	1	0	0	0	0	1	0	0	0	5689	1203	42	3	12698	3	FAT1	4	187629810	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	96796622	187629810	3524466	33	1889											
TRIML1	339976	broad.mit.edu	37	chr4	189065196	189065196	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctctcttgcaggagcgaGccactcttgcttcagtgtcc	5	12	10	14	1	3	0	1	0	2	0	5	2	4	1	2	1	5	3	2	1	0	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:189065196G>A	uc003izm.1	+	4	880	c.765G>A	c.(763-765)gaG>gaA	p.E255E	TRIML1_uc003izn.1_5'UTR	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	255					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GCAGGAGCGAGCCACTCTTGC	0.567													5	28					0	0	1	0	0	A	189065196	G	A	189065196	2	1	47	1	0	0	0	0	0	0	0	1	16547	962	34	3		3	TRIML1	4	189065196	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	1435386	189065196	2089080	34	1890											
CDH6	1004	broad.mit.edu	37	chr5	31297444	31297444	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatgcagatgatccaacatAtgggaacagtgctaaagttg	14	9	12	6	0	0	2	0	1	0	1	1	4	1	4	1	2	4	3	1	2	5	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr5:31297444A>T	uc003jhe.2	+	3	932	c.572A>T	c.(571-573)tAt>tTt	p.Y191F	CDH6_uc003jhd.2_Missense_Mutation_p.Y191F	NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	191	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GATCCAACATATGGGAACAGT	0.363													8	66					0	0	1	0	0	T	31297444	A	T	31297444	3	4	47	1	0	0	0	0	1	0	0	0	3114	449	16	5	582	5	CDH6	5	31297444	Missense_Mutation	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08		31297444	149617816	35	1891											
DAB2	1601	broad.mit.edu	37	chr5	39383207	39383207	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattaggggtgggaaagaagTtgagattggcagaaaaggca	15	7	17	2	0	0	3	0	1	0	3	0	6	0	4	0	5	0	3	0	5	5	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr5:39383207T>G	uc003jlx.3	-	9	1385	c.854A>C	c.(853-855)aAc>aCc	p.N285T	DAB2_uc003jlw.3_Missense_Mutation_p.N264T	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	285					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GGGAAAGAAGTTGAGATTGGC	0.468													6	110					0	0	1	0	0	G	39383207	T	G	39383207	3	3	47	1	0	0	0	0	1	0	0	0	4218	1725	60	5	1478	5	DAB2	5	39383207	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	8085763	39383207	141532053	36	1892											
RASGRF2	5924	broad.mit.edu	37	chr5	80382767	80382767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagccaaacgttcatccGccaaggtaagtccctgtgaa	12	7	8	14	2	1	1	1	1	0	0	3	1	3	1	5	1	2	2	5	1	4	2			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr5:80382767G>A	uc003kha.2	+	8	1435	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H	RASGRF2_uc011ctn.2_Non-coding_Transcript|RASGRF2_uc003khb.1_Missense_Mutation_p.R290H	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	462					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding	p.R462C(1)		biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ACGTTCATCCGCCAAGGTAAG	0.547													34	51					0	0	1	0	0	A	80382767	G	A	80382767	3	1	47	1	0	0	0	0	1	0	0	0	13073	1087	38	1	1419	1	RASGRF2	5	80382767	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	40999560	80382767	100532493	37	1893											
RGMB	285704	broad.mit.edu	37	chr5	98129390	98129390	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcagtggcaatgggactcCccgtggaggcagtgatttgt	8	9	15	9	1	0	1	0	1	0	0	1	3	1	3	2	4	1	3	2	4	1	1			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr5:98129390C>G	uc003knc.3	+	4	1772	c.1370C>G	c.(1369-1371)cCc>cGc	p.P457R		NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN	Homo sapiens RGM domain family, member B (RGMB), mRNA.	416					BMP signaling pathway|axon guidance|cell adhesion|positive regulation of transcription, DNA-dependent	ER-Golgi intermediate compartment|anchored to plasma membrane|membrane raft	identical protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		AATGGGACTCCCCGTGGAGGC	0.502													13	11					0	0	1	0	0	G	98129390	C	G	98129390	3	3	47	1	0	0	0	0	1	0	0	0	13281	623	22	5	1384	5	RGMB	5	98129390	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	17746623	98129390	82785870	38	1894											
NEUROG1	4762	broad.mit.edu	37	chr5	134871191	134871191	+	Frame_Shift_Del	DEL	C	C	-																															ctcctgctcgtcgtcctgtgCccctggaacctcagacgccc																										TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr5:134871191delC	uc003lax.3	-	0	449	c.190delG	c.(190-192)gcafs	p.A64fs		NM_006161	NP_006152	Q92886	NGN1_HUMAN	Homo sapiens neurogenin 1 (NEUROG1), mRNA.	64					positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|chromatin binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			endometrium(1)|liver(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCGTCCTGTGCCCCTGGAACC	0.756													2	4	---	---	---	---						-	134871191	C	-	134871191	7	5	47	1	0	1	0	1	0	0	0	0	10352	739	26	0	527	0	NEUROG1	5	134871191	Frame_Shift_Del	DEL	C	TCGA-DB-A64X-01A-11D-A29Q-08	36741801	134871191	46044069	39	1895											
CDKAL1	54901	broad.mit.edu	37	chr6	20846359	20846359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acacgccagaggaaatttggCcagttatccaattgatgaac	14	9	9	9	1	0	3	0	2	0	1	1	4	1	4	3	2	1	1	3	2	4	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr6:20846359C>T	uc003ndd.2	+	8	859	c.692C>T	c.(691-693)gCc>gTc	p.A231V	CDKAL1_uc003nde.2_Missense_Mutation_p.A161V|CDKAL1_uc021ymk.1_Missense_Mutation_p.A231V	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), mRNA.	231					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			GGAAATTTGGCCAGTTATCCA	0.318													3	39					0	0	1	0	0	T	20846359	C	T	20846359	3	4	47	1	0	0	0	0	1	0	0	0	3152	739	26	3	718	3	CDKAL1	6	20846359	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08		20846359	150268708	40	1896											
ATF6B	1388	broad.mit.edu	37	chr6	32088575	32088575	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggctggacgagggactgcaGaaggactgtggtgctgggag	8	7	20	6	1	0	1	0	0	0	1	0	6	0	5	0	6	2	3	0	6	1	0			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr6:32088575G>A	uc003nzn.3	-	7	838	c.805C>T	c.(805-807)Ctg>Ttg	p.L269L	ATF6B_uc003nzm.1_5'Flank|ATF6B_uc003nzo.3_Silent_p.L266L|ATF6B_uc003nzp.1_5'Flank|ATF6B_uc011dpg.2_Silent_p.L203L|ATF6B_uc011dph.2_Silent_p.L269L	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA.	269					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						AGGGACTGCAGAAGGACTGTG	0.627													6	215					0	0	1	0	0	A	32088575	G	A	32088575	2	1	47	1	0	0	0	0	0	0	0	1	1085	933	33	3		3	ATF6B	6	32088575	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	11242216	32088575	139026492	41	1897											
BTNL2	56244	broad.mit.edu	37	chr6	32362767	32362767	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatttctccatcttcttGcccctccacagtgatcagtg	6	14	6	15	0	4	1	1	1	3	0	6	1	5	1	4	0	2	1	4	0	0	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr6:32362767G>A	uc003obg.1	-	5	1114	c.1114C>T	c.(1114-1116)Caa>Taa	p.Q372*	BTNL2_uc010jty.1_Nonsense_Mutation_p.Q95*|BTNL2_uc010jtz.1_Non-coding_Transcript|BTNL2_uc010jua.1_Nonsense_Mutation_p.Q162*	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN	Homo sapiens butyrophilin-like 2 (MHC class II associated) (BTNL2), mRNA.	372						integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CCATCTTCTTGCCCCTCCACA	0.547													23	151					0	0	1	0	0	A	32362767	G	A	32362767	4	1	47	1	0	0	0	0	0	1	0	0	1565	1328	46	3	257	3	BTNL2	6	32362767	Nonsense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	274192	32362767	138752300	42	1898											
ITPR3	3710	broad.mit.edu	37	chr6	33626884	33626884	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgagctcagcgacaacgcCggctgcaaggaggtgagggg	10	4	17	10	4	1	1	1	1	0	0	1	4	1	2	1	5	5	3	1	5	3	1			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr6:33626884C>T	uc021ywr.1	+	5	839	c.615C>T	c.(613-615)gcC>gcT	p.A205A		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	205	MIR 2.				G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GCGACAACGCCGGCTGCAAGG	0.632													55	63					0	0	1	0	0	T	33626884	C	T	33626884	2	4	47	1	0	0	0	0	0	0	0	1	7922	639	23	2		2	ITPR3	6	33626884	Silent	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	1264117	33626884	137488183	43	1899											
LGSN	51557	broad.mit.edu	37	chr6	63995539	63995539	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacctggacacgccgtggaGgtctgttgcttcaaatcgta	9	10	12	10	3	2	1	1	0	1	1	3	3	2	3	2	3	1	3	2	3	2	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr6:63995539G>T	uc003peh.3	-	2	317	c.283C>A	c.(283-285)Ctc>Atc	p.L95I	LGSN_uc003pei.3_Missense_Mutation_p.L95I|LGSN_uc003pej.1_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	95					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	ACGCCGTGGAGGTCTGTTGCT	0.418													15	24					9.16793e-09	9.46607e-09	1	1	0	T	63995539	G	T	63995539	3	4	47	1	0	0	0	0	1	0	0	0	8759	1000	35	5	1254	5	LGSN	6	63995539	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	30368655	63995539	107119528	44	1900											
RFX6	222546	broad.mit.edu	37	chr6	117245848	117245848	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggttcttttcatttgatTcgaatgcttctcgatgaata	10	17	7	7	2	3	2	1	2	2	0	5	4	3	2	0	1	1	2	0	1	4	7			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr6:117245848T>C	uc003pxm.3	+	14	1635	c.1572T>C	c.(1570-1572)atT>atC	p.I524I		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	524					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTCATTTGATTCGAATGCTTC	0.388													5	70					0	0	1	0	0	C	117245848	T	C	117245848	2	2	47	1	0	0	0	0	0	0	0	1	13267	1771	62	3		3	RFX6	6	117245848	Silent	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	53250309	117245848	53869219	45	1901											
LTV1	84946	broad.mit.edu	37	chr6	144171327	144171327	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtttgaggaagatgttggAttgttaaataaagcagctcc	13	12	12	4	0	0	2	0	1	0	1	1	5	1	4	1	2	2	5	1	2	5	5			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr6:144171327A>C	uc003qjs.3	+	3	476	c.369A>C	c.(367-369)ggA>ggC	p.G123G		NM_032860	NP_116249	Q96GA3	LTV1_HUMAN	Homo sapiens LTV1 homolog (S. cerevisiae) (LTV1), mRNA.	123										breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		AAGATGTTGGATTGTTAAATA	0.313													4	62					0	0	1	0	0	C	144171327	A	C	144171327	2	2	47	1	0	0	0	0	0	0	0	1	9081	320	12	5		5	LTV1	6	144171327	Silent	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	26925479	144171327	26943740	46	1902											
PMS2	5395	broad.mit.edu	37	chr7	6045580	6045580	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taactcctttaccgcagtgcTtagactcagtaccacctgcc	9	11	6	15	1	1	1	1	0	0	1	2	1	2	1	5	0	5	3	5	0	4	5			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr7:6045580T>G	uc003spl.3	-	1	193	c.106A>C	c.(106-108)Agc>Cgc	p.S36R	PMS2_uc003spj.3_5'Flank|PMS2_uc003spk.3_5'UTR|PMS2_uc011jwl.2_Intron|PMS2_uc010ktg.3_5'UTR|PMS2_uc010kte.3_Missense_Mutation_p.S36R|PMS2_uc010ktf.2_Missense_Mutation_p.S36R	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	36					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		ACCGCAGTGCTTAGACTCAGT	0.433			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				63	210					0	0	1	0	0	G	6045580	T	G	6045580	3	3	47	1	0	0	0	0	1	0	0	0	12143	1609	56	5	2538	5	PMS2	7	6045580	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08		6045580	153093083	47	1903											
THSD7A	221981	broad.mit.edu	37	chr7	11485796	11485796	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatgtctccttgtacttTcattcccagcaacacttcca	8	15	4	14	0	2	1	1	1	1	0	5	1	4	1	3	0	3	2	3	0	2	6			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr7:11485796T>C	uc021zzo.1	-	12	3208	c.2956A>G	c.(2956-2958)Aaa>Gaa	p.K986E	THSD7A_uc021zzn.1_Missense_Mutation_p.K986E	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	986	TSP type-1 10.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCTTGTACTTTCATTCCCAGC	0.433										HNSCC(18;0.044)			19	121					0	0	1	0	0	C	11485796	T	C	11485796	3	2	47	1	0	0	0	0	1	0	0	0	15876	1792	62	3	2077	3	THSD7A	7	11485796	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	5440216	11485796	147652867	48	1904											
PUS7	54517	broad.mit.edu	37	chr7	105098346	105098346	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaagggggtagagaaaaaTccattttcagagccctgtat	14	10	11	6	0	1	3	1	0	0	3	2	4	2	3	2	2	1	2	2	2	6	5			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr7:105098346T>A	uc010lji.3	-	15	1903	c.1895A>T	c.(1894-1896)gAt>gTt	p.D632V	PUS7_uc003vcx.3_Missense_Mutation_p.D626V|PUS7_uc003vcy.3_Missense_Mutation_p.D626V|PUS7_uc003vcz.1_Missense_Mutation_p.D626V	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae) (PUS7), mRNA.	626					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TAGAGAAAAATCCATTTTCAG	0.458													43	53					0	0	1	0	0	A	105098346	T	A	105098346	3	1	47	1	0	0	0	0	1	0	0	0	12833	1435	50	5	112	5	PUS7	7	105098346	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	93612550	105098346	54040317	49	1905											
TRPV5	56302	broad.mit.edu	37	chr7	142609806	142609806	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtccacgtcgtagttggcagGtgcatcaataacagtgagaa	12	9	12	8	2	1	1	1	1	0	1	3	2	2	1	1	2	2	4	1	2	4	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr7:142609806G>A	uc003wby.1	-	12	1894	c.1630C>T	c.(1630-1632)Cct>Tct	p.P544S		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	544					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TAGTTGGCAGGTGCATCAATA	0.493													54	55					0	0	1	0	0	A	142609806	G	A	142609806	3	1	47	1	0	0	0	0	1	0	0	0	16596	1261	44	3	571	3	TRPV5	7	142609806	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	37511460	142609806	16528857	50	1906											
TEX15	56154	broad.mit.edu	37	chr8	30694848	30694848	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttgattcacattaagggtTatatgcccagatgctccaaa	12	12	7	10	0	1	2	1	1	0	1	2	2	2	2	3	1	2	2	3	1	4	5			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr8:30694848T>G	uc003xil.3	-	2	7803	c.7803A>C	c.(7801-7803)atA>atC	p.I2601I		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2601										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CATTAAGGGTTATATGCCCAG	0.383													25	37					0	0	1	0	0	G	30694848	T	G	30694848	2	3	47	1	0	0	0	0	0	0	0	1	15776	1744	61	5		5	TEX15	8	30694848	Silent	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08		30694848	115669174	51	1907											
TRPA1	8989	broad.mit.edu	37	chr8	72967828	72967828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgacaggtattgatacGcccataacttggaaaaaatt	14	11	7	9	1	1	2	0	2	1	0	1	3	1	3	2	2	2	1	2	2	6	6			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr8:72967828G>A	uc003xza.3	-	11	1547	c.1372C>T	c.(1372-1374)Cgt>Tgt	p.R458C	LOC100132891_uc011lff.2_Non-coding_Transcript|LOC100132891_uc022avt.1_Non-coding_Transcript|LOC100132891_uc003xyy.3_Non-coding_Transcript	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	458						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GTATTGATACGCCCATAACTT	0.413													20	24					0	0	1	0	0	A	72967828	G	A	72967828	3	1	47	1	0	0	0	0	1	0	0	0	16574	1087	38	1	2051	1	TRPA1	8	72967828	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	42272980	72967828	73396194	52	1908											
CSMD3	114788	broad.mit.edu	37	chr8	113395856	113395856	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcataaaagtccagagaatCccaattatgttctgtagcaa	16	11	6	8	0	2	1	1	0	1	1	4	2	4	1	2	0	1	3	2	0	7	4			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr8:113395856C>A	uc003ynu.3	-	36	6130	c.5971G>T	c.(5971-5973)Gat>Tat	p.D1991Y	CSMD3_uc003yns.3_Missense_Mutation_p.D1193Y|CSMD3_uc003ynt.3_Missense_Mutation_p.D1951Y|CSMD3_uc011lhx.2_Missense_Mutation_p.D1887Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1991	CUB 11.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCAGAGAATCCCAATTATGT	0.348										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			12	48					0.0167234	0.0168561	1	1	0	A	113395856	C	A	113395856	3	1	47	1	0	0	0	0	1	0	0	0	3946	855	30	5	5292	5	CSMD3	8	113395856	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	40428028	113395856	32968166	53	1909											
FOXH1	8928	broad.mit.edu	37	chr8	145701110	145701110	+	Frame_Shift_Del	DEL	C	C	-																															ggcgactctgcctctgggggCcccaggcgggagccgctgca																										TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr8:145701110delC	uc003zdc.3	-	0	609	c.30delG	c.(28-30)gggfs	p.G10fs		NM_003923	NP_003914	O75593	FOXH1_HUMAN	Homo sapiens forkhead box H1 (FOXH1), mRNA.	10					axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|R-SMAD binding|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CCTCTGGGGGCCCCAGGCGGG	0.687													2	4	---	---	---	---						-	145701110	C	-	145701110	7	5	47	1	0	1	0	1	0	0	0	0	6008	726	26	0	1079	0	FOXH1	8	145701110	Frame_Shift_Del	DEL	C	TCGA-DB-A64X-01A-11D-A29Q-08	32305254	145701110	662912	54	1910											
TEK	7010	broad.mit.edu	37	chr9	27190616	27190616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctctgagccttactttgggGatggaccaatcaaatccaag	11	10	10	10	0	2	1	1	1	1	0	3	3	3	3	3	3	2	1	3	3	4	2			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr9:27190616G>A	uc011lno.2	+	8	1730	c.1288G>A	c.(1288-1290)Gat>Aat	p.D430N	TEK_uc003zqi.4_Missense_Mutation_p.D473N|TEK_uc011lnp.2_Missense_Mutation_p.D326N|TEK_uc003zqj.1_Missense_Mutation_p.D407N	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	473	Ig-like C2-type 2.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TTACTTTGGGGATGGACCAAT	0.433													5	119					0	0	1	0	0	A	27190616	G	A	27190616	3	1	47	1	0	0	0	0	1	0	0	0	15748	1174	41	3	1455	3	TEK	9	27190616	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08		27190616	114022815	55	1911											
NFX1	4799	broad.mit.edu	37	chr9	33311160	33311160	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttatgacaaaaacatgtgAatgtggacgaaccaggtaaa	17	9	9	6	1	0	2	0	2	0	0	0	4	0	3	1	2	2	1	1	2	7	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr9:33311160A>G	uc003zsr.3	+	5	1586	c.1433A>G	c.(1432-1434)gAa>gGa	p.E478G	NFX1_uc011lnw.2_Missense_Mutation_p.E478G|NFX1_uc003zso.3_Missense_Mutation_p.E478G|NFX1_uc003zsp.2_Missense_Mutation_p.E478G|NFX1_uc010mjr.2_Missense_Mutation_p.E478G|NFX1_uc003zsq.3_Missense_Mutation_p.E478G	NM_002504	NP_002495	Q12986	NFX1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.	478					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		AAAACATGTGAATGTGGACGA	0.413													31	83					0	0	1	0	0	G	33311160	A	G	33311160	3	3	47	1	0	0	0	0	1	0	0	0	10387	246	9	3	1455	3	NFX1	9	33311160	Missense_Mutation	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	6120544	33311160	107902271	56	1912											
ANK3	288	broad.mit.edu	37	chr10	61834572	61834572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttataatccttttcggaggCggcttttgcttttacttgca	6	18	9	8	2	0	0	0	0	0	0	2	1	1	1	1	3	3	4	1	3	3	9	rs146929899	byFrequency	TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr10:61834572C>T	uc001jky.3	-	36	6405	c.6067G>A	c.(6067-6069)Gcc>Acc	p.A2023T	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2023					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTTCGGAGGCGGCTTTTGCT	0.418													9	80					0	0	1	0	0	T	61834572	C	T	61834572	3	4	47	1	0	0	0	0	1	0	0	0	622	768	27	1	7407	1	ANK3	10	61834572	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08		61834572	73700175	57	1913											
POLR3A	11128	broad.mit.edu	37	chr10	79785474	79785474	+	Frame_Shift_Del	DEL	T	T	-																															ggcctagacagtcagccaagTttttcccacaggtttcacat																										TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr10:79785474delT	uc001jzn.3	-	2	357	c.224delA	c.(223-225)aacfs	p.N75fs		NM_007055	NP_008986	O14802	RPC1_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA.	75					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	p.N75Y(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GTCAGCCAAGTTTTTCCCACA	0.483													25	93	---	---	---	---						-	79785474	T	-	79785474	7	5	47	1	0	1	0	1	0	0	0	0	12228	1725	60	0	4064	0	POLR3A	10	79785474	Frame_Shift_Del	DEL	T	TCGA-DB-A64X-01A-11D-A29Q-08	17950902	79785474	55749273	58	1914											
AGAP11	119385	broad.mit.edu	37	chr10	88769304	88769304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagaaggaacggtggatccGttccaaatatgagcataagc	15	7	12	7	2	0	2	0	1	0	1	2	5	2	4	2	3	3	2	2	3	5	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr10:88769304G>A	uc001kee.2	+	11	2499	c.1295G>A	c.(1294-1296)cGt>cAt	p.R432H	AGAP11_uc001kef.3_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.	432	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CGGTGGATCCGTTCCAAATAT	0.582													8	162					0	0	1	0	0	A	88769304	G	A	88769304	3	1	47	1	0	0	0	0	1	0	0	0	367	1145	40	1	1309	1	AGAP11	10	88769304	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	8983830	88769304	46765443	59	1915											
C11orf35	256329	broad.mit.edu	37	chr11	557018	557018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagggagccccactccaCggtcttgtgatgccgctcgg	5	7	15	14	3	1	1	0	1	1	0	3	2	2	2	4	4	2	2	4	4	0	1			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr11:557018C>T	uc001lpx.3	-	7	856	c.793G>A	c.(793-795)Gtg>Atg	p.V265M	AX748330_uc001lpy.3_5'Flank|BC031953_uc001lpz.3_5'Flank	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN	Homo sapiens chromosome 11 open reading frame 35 (C11orf35), mRNA.	265										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCCACTCCACGGTCTTGTGA	0.672													9	4					0	0	1	0	0	T	557018	C	T	557018	3	4	47	1	0	0	0	0	1	0	0	0	1638	536	19	1	1139	1	C11orf35	11	557018	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08		557018	134449498	60	1916											
MUC5B	727897	broad.mit.edu	37	chr11	1271146	1271146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacagaccaccacacccgtgGccaccatgtccacaatccac	13	4	5	19	1	0	1	0	0	0	1	2	1	2	1	7	1	1	0	7	1	2	0			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr11:1271146G>A	uc001lta.3	+	30	13095	c.13036G>A	c.(13036-13038)Gcc>Acc	p.A4346T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4346	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACACCCGTGGCCACCATGTC	0.627													22	160					0	0	1	0	0	A	1271146	G	A	1271146	3	1	47	1	0	0	0	0	1	0	0	0	9979	1203	42	3	13167	3	MUC5B	11	1271146	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	714128	1271146	133735370	61	1917											
TMEM132A	54972	broad.mit.edu	37	chr11	60698058	60698058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggactgccaagctggacCgcttcaagggctccaggcac	8	7	12	14	1	2	0	1	0	1	0	3	2	3	2	3	4	2	4	3	4	2	1			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr11:60698058C>T	uc001nqi.3	+	4	1136	c.943C>T	c.(943-945)Cgc>Tgc	p.R315C	TMEM132A_uc001nqj.3_Missense_Mutation_p.R315C|TMEM132A_uc001nqk.3_Missense_Mutation_p.R328C|TMEM132A_uc001nql.1_Missense_Mutation_p.R328C	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	315						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CAAGCTGGACCGCTTCAAGGG	0.637													78	93					0	0	1	0	0	T	60698058	C	T	60698058	3	4	47	1	0	0	0	0	1	0	0	0	16042	652	23	2	961	2	TMEM132A	11	60698058	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	59426912	60698058	74308458	62	1918											
SLC22A12	116085	broad.mit.edu	37	chr11	64360337	64360337	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgggagctgctgcgtgCggccctgcctcagacaggtg	4	8	17	12	2	1	1	1	0	0	1	1	2	1	2	2	4	5	2	2	4	0	0			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr11:64360337C>T	uc001oam.1	+	1	1236	c.489C>T	c.(487-489)tgC>tgT	p.C163C	SLC22A12_uc009ypr.1_Silent_p.C163C|SLC22A12_uc001oal.1_5'UTR|SLC22A12_uc009yps.1_Silent_p.C163C|SLC22A12_uc001oan.1_Silent_p.C163C|SLC22A12_uc009ypt.3_5'Flank	NM_144585	NP_700357	Q96S37	S22AC_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 12 (SLC22A12), transcript variant 1, mRNA.	163					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity	p.A162T(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						CTGCTGCGTGCGGCCCTGCCT	0.627													5	100					0	0	1	0	0	T	64360337	C	T	64360337	2	4	47	1	0	0	0	0	0	0	0	1	14443	776	27	1		1	SLC22A12	11	64360337	Silent	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	3662279	64360337	70646179	63	1919											
RELA	5970	broad.mit.edu	37	chr11	65429217	65429217	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccatcccggcagtccttTcctacaagctcgtgggggtg	7	9	12	13	2	0	0	0	0	0	0	4	0	3	0	4	3	3	2	4	3	3	2			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr11:65429217T>C	uc010ron.2	-	3	449	c.309A>G	c.(307-309)ggA>ggG	p.G103G	RELA_uc001off.3_Silent_p.G92G|RELA_uc001ofh.3_Silent_p.G92G|RELA_uc001ofg.3_Silent_p.G92G|RELA_uc021qlq.1_Silent_p.G92G|RELA_uc009yqr.3_Silent_p.G39G|RELA_uc001ofe.2_Silent_p.G92G|RELA_uc009yqs.1_5'Flank	NM_021975	NP_068810	Q04206	TF65_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog A (avian) (RELA), transcript variant 1, mRNA.	92	RHD.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to UV-B|response to interleukin-1|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	NF-kappaB binding|activating transcription factor binding|chromatin binding|identical protein binding|phosphate binding|protein N-terminus binding|protein kinase binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GGCAGTCCTTTCCTACAAGCT	0.617													14	78					0	0	1	0	0	C	65429217	T	C	65429217	2	2	47	1	0	0	0	0	0	0	0	1	13216	1770	62	3		3	RELA	11	65429217	Silent	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	1068880	65429217	69577299	64	1920											
ALDH3B2	222	broad.mit.edu	37	chr11	67430801	67430801	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggccggagggggcgagcAggcaggtgcggtggtgggag	6	3	24	8	3	0	0	0	0	0	0	0	3	0	2	2	9	2	2	2	9	0	0			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr11:67430801A>G	uc001omr.3	-	9	1482	c.1043T>C	c.(1042-1044)cTg>cCg	p.L348P	ALDH3B2_uc001oms.3_Missense_Mutation_p.L348P	NM_000695	NP_001026786	P48448	AL3B2_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA.	348					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	GGGGGCGAGCAGGCAGGTGCG	0.617													26	34					0	0	1	0	0	G	67430801	A	G	67430801	3	3	47	1	0	0	0	0	1	0	0	0	500	188	7	4	118	4	ALDH3B2	11	67430801	Missense_Mutation	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	2001584	67430801	67575715	65	1921											
SLC2A14	144195	broad.mit.edu	37	chr12	7982600	7982600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacaatcagcattgaattgCgcctgtaaggttaatcaaag	14	11	9	7	1	2	2	2	2	0	0	2	2	2	2	1	1	2	3	1	1	5	4			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr12:7982600C>T	uc010sgh.2	-	3	410	c.389G>A	c.(388-390)cGc>cAc	p.R130H	SLC2A14_uc001qtk.3_Missense_Mutation_p.R115H|SLC2A14_uc001qtl.3_Missense_Mutation_p.R92H|SLC2A14_uc001qtm.3_Missense_Mutation_p.R92H|SLC2A14_uc010sgg.2_Missense_Mutation_p.R6H|SLC2A14_uc001qtn.3_Missense_Mutation_p.R115H|SLC2A14_uc001qto.3_Intron	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	115					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	p.R115H(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CATTGAATTGCGCCTGTAAGG	0.458													11	38					0	0	1	0	0	T	7982600	C	T	7982600	3	4	47	1	0	0	0	0	1	0	0	0	14543	768	27	1	1246	1	SLC2A14	12	7982600	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08		7982600	125869295	66	1922											
GRIN2B	2904	broad.mit.edu	37	chr12	13764768	13764768	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaacatcatcacccatacGtcagcgctgaatggctctga	13	8	7	13	2	4	2	3	2	1	0	4	2	4	2	1	1	3	2	1	1	3	1			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr12:13764768G>A	uc001rbt.2	-	7	1850	c.1671C>T	c.(1669-1671)gaC>gaT	p.D557D		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	557					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCACCCATACGTCAGCGCTGA	0.448													4	128					0	0	1	0	0	A	13764768	G	A	13764768	2	1	47	1	0	0	0	0	0	0	0	1	6780	1136	40	1		1	GRIN2B	12	13764768	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	5782168	13764768	120087127	67	1923											
DGKA	1606	broad.mit.edu	37	chr12	56330861	56330861	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatggcgagatggctaaatAtgtccaaggagatgtgagtg	12	9	16	4	1	0	3	0	1	0	2	1	6	1	4	1	4	0	1	1	4	4	2			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr12:56330861A>G	uc001sij.3	+	2	389	c.125A>G	c.(124-126)tAt>tGt	p.Y42C	DGKA_uc009zoc.1_Missense_Mutation_p.Y42C|DGKA_uc001sih.1_5'UTR|DGKA_uc001sii.1_5'UTR|DGKA_uc009zod.1_Intron|DGKA_uc009zoe.1_Missense_Mutation_p.Y42C|DGKA_uc001sik.3_Missense_Mutation_p.Y42C|DGKA_uc001sil.3_Missense_Mutation_p.Y42C|DGKA_uc001sim.3_Missense_Mutation_p.Y42C|DGKA_uc001sin.3_Missense_Mutation_p.Y42C|DGKA_uc009zof.3_5'UTR|DGKA_uc001sio.3_5'UTR	NM_001345	NP_963848	P23743	DGKA_HUMAN	Homo sapiens diacylglycerol kinase, alpha 80kDa (DGKA), transcript variant 3, mRNA.	42					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	ATGGCTAAATATGTCCAAGGA	0.448													5	82					0	0	1	0	0	G	56330861	A	G	56330861	3	3	47	1	0	0	0	0	1	0	0	0	4465	449	16	3	131	3	DGKA	12	56330861	Missense_Mutation	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	42566093	56330861	77521034	68	1924											
COL4A1	1282	broad.mit.edu	37	chr13	110804777	110804777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgacactcgatgaatggcGcacttctaaactcctccagg	10	9	9	13	3	1	2	0	2	1	0	4	3	3	2	2	2	1	1	2	2	3	2			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr13:110804777G>A	uc001vqw.4	-	50	4954	c.4832C>T	c.(4831-4833)gCg>gTg	p.A1611V		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1611	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GATGAATGGCGCACTTCTAAA	0.582													8	19					0	0	1	0	0	A	110804777	G	A	110804777	3	1	47	1	0	0	0	0	1	0	0	0	3689	1087	38	1	185	1	COL4A1	13	110804777	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08		110804777	4365101	69	1925											
LRRC16B	90668	broad.mit.edu	37	chr14	24531941	24531941	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cggcacctgacccagctaagGacgctgtcagatccaccagg	10	5	11	15	2	1	2	1	1	0	1	2	3	2	3	4	3	1	3	4	3	1	1			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr14:24531941G>C	uc001wlj.2	+	28	2749	c.2592G>C	c.(2590-2592)agG>agC	p.R864S	LRRC16B_uc001wlk.2_5'UTR	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	864										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CCCAGCTAAGGACGCTGTCAG	0.627													37	38					0	0	1	0	0	C	24531941	G	C	24531941	3	2	47	1	0	0	0	0	1	0	0	0	8972	1165	41	5	2706	5	LRRC16B	14	24531941	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08		24531941	82817599	70	1926											
KLHL28	54813	broad.mit.edu	37	chr14	45403686	45403686	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttggtctaaaacgcatatTccaaattcatagcgaggaat	14	13	7	7	2	2	0	1	0	1	0	3	2	3	1	1	2	2	1	1	2	6	7			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr14:45403686T>C	uc001wvq.3	-	2	1221	c.975A>G	c.(973-975)ggA>ggG	p.G325G	KLHL28_uc001wvr.3_Silent_p.G325G	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	Homo sapiens kelch-like 28 (Drosophila) (KLHL28), mRNA.	325										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AAACGCATATTCCAAATTCAT	0.373													4	50					0	0	1	0	0	C	45403686	T	C	45403686	2	2	47	1	0	0	0	0	0	0	0	1	8382	1770	62	3		3	KLHL28	14	45403686	Silent	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	20871745	45403686	61945854	71	1927											
FANCM	57697	broad.mit.edu	37	chr14	45645432	45645432	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaacagtaaaagcgaatctTtacctgtgtcagacaaaact	16	10	7	8	1	2	2	1	1	1	1	2	3	2	2	1	0	4	1	1	0	7	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr14:45645432T>G	uc001wwd.4	+	13	3574	c.3475T>G	c.(3475-3477)Tta>Gta	p.L1159V	FANCM_uc010anf.3_Missense_Mutation_p.L1133V|FANCM_uc001wwe.4_Missense_Mutation_p.L695V|FANCM_uc010ang.3_Missense_Mutation_p.L373V	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	1159					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAGCGAATCTTTACCTGTGTC	0.373								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	106					0	0	1	0	0	G	45645432	T	G	45645432	3	3	47	1	0	0	0	0	1	0	0	0	5671	1838	64	5	3529	5	FANCM	14	45645432	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	241746	45645432	61704108	72	1928											
HERC2	8924	broad.mit.edu	37	chr15	28491947	28491947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgccgccagctggtagaaGcaatgctggcggccacaggc	9	5	15	12	2	0	1	0	0	0	1	0	1	0	1	3	4	4	4	3	4	3	1			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr15:28491947G>A	uc001zbj.3	-	21	3438	c.3332C>T	c.(3331-3333)gCt>gTt	p.A1111V		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	1111					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCTGGTAGAAGCAATGCTGGC	0.507													35	46					0	0	1	0	0	A	28491947	G	A	28491947	3	1	47	1	0	0	0	0	1	0	0	0	7058	971	34	3	11460	3	HERC2	15	28491947	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08		28491947	74039445	73	1929											
MCTP2	55784	broad.mit.edu	37	chr15	95013576	95013576	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacagcacatttaactggaCggtccccttcctttcatctc	8	13	5	15	1	2	0	1	0	1	0	5	1	4	1	3	2	3	1	3	2	2	5			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr15:95013576C>T	uc002btj.3	+	19	2440	c.2375C>T	c.(2374-2376)aCg>aTg	p.T792M	MCTP2_uc010boj.3_Missense_Mutation_p.T521M|MCTP2_uc010bok.3_Missense_Mutation_p.T737M|MCTP2_uc002btl.3_Missense_Mutation_p.T380M	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	792					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.T792S(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TTTAACTGGACGGTCCCCTTC	0.403													41	45					0	0	1	0	0	T	95013576	C	T	95013576	3	4	47	1	0	0	0	0	1	0	0	0	9401	536	19	1	2529	1	MCTP2	15	95013576	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	66521629	95013576	7517816	74	1930											
PCSK6	5046	broad.mit.edu	37	chr15	101971660	101971660	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcagcgactgttcttgtcGccacaatgctgtaagcacga	9	9	11	12	4	1	0	0	0	1	0	2	2	1	0	1	1	3	5	1	1	2	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr15:101971660G>A	uc002bxa.2	-	4	833	c.519C>T	c.(517-519)ggC>ggT	p.G173G	PCSK6_uc010bpd.3_Silent_p.G44G|PCSK6_uc002bwy.3_Silent_p.G173G|PCSK6_uc010bpe.3_Silent_p.G170G|PCSK6_uc002bxb.2_Silent_p.G173G|PCSK6_uc002bxc.1_Silent_p.G173G|PCSK6_uc002bxd.1_Silent_p.G173G|PCSK6_uc002bxe.3_Silent_p.G173G|PCSK6_uc002bxg.1_Silent_p.G173G	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	174	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTTCTTGTCGCCACAATGCT	0.552													6	27					0	0	1	0	0	A	101971660	G	A	101971660	2	1	47	1	0	0	0	0	0	0	0	1	11604	1074	38	1		1	PCSK6	15	101971660	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	6958084	101971660	559732	75	1931											
IL4R	3566	broad.mit.edu	37	chr16	27372137	27372137	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggaaccagccaagtgcccGtatgtatctgaacttaggtc	11	9	10	11	1	1	1	0	1	1	0	2	2	1	2	3	2	4	2	3	2	6	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr16:27372137G>A	uc002don.3	+	10	1141	c.899_splice	c.e10+1	p.P300_splice	IL4R_uc002dop.4_Splice_Site_p.P285_splice|IL4R_uc010bxy.3_Splice_Site_p.P300_splice|IL4R_uc002doo.3_Splice_Site_p.P140_splice	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	300					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CCAAGTGCCCGTATGTATCTG	0.547													5	148					0	0	1	0	0	A	27372137	G	A	27372137	5	1	47	1	0	0	0	0	0	0	1	0	7698	1159	40	1	948	1	IL4R	16	27372137	Splice_Site	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08		27372137	62982616	76	1932											
RSPRY1	89970	broad.mit.edu	37	chr16	57238805	57238805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acacaaggagccaaccacggGaccctgttcggccaccaagg	12	3	11	15	2	0	0	0	0	0	0	1	2	0	2	5	4	2	1	5	4	3	1			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr16:57238805G>A	uc002elb.3	+	1	513	c.235G>A	c.(235-237)Gac>Aac	p.D79N	RSPRY1_uc002elc.3_Missense_Mutation_p.D79N|RSPRY1_uc002eld.3_Missense_Mutation_p.D79N|RSPRY1_uc002ele.1_Missense_Mutation_p.D79N	NM_133368	NP_588609	Q96DX4	RSPRY_HUMAN	Homo sapiens ring finger and SPRY domain containing 1 (RSPRY1), mRNA.	79						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CCAACCACGGGACCCTGTTCG	0.552													5	99					0	0	1	0	0	A	57238805	G	A	57238805	3	1	47	1	0	0	0	0	1	0	0	0	13713	1174	41	3	237	3	RSPRY1	16	57238805	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	29866668	57238805	33115948	77	1933											
YWHAE	7531	broad.mit.edu	37	chr17	1268267	1268267	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttctagctccaatcacattCttatatgcaacagataggag	13	12	6	10	0	3	1	1	0	2	1	4	2	4	2	1	1	3	2	1	1	6	6			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr17:1268267C>G	uc002fsj.3	-	1	302	c.150G>C	c.(148-150)aaG>aaC	p.K50N	YWHAE_uc002fsk.3_Missense_Mutation_p.K28N|YWHAE_uc010vqh.2_Non-coding_Transcript|YWHAE_uc010vqi.2_Non-coding_Transcript	NM_006761	NP_006752	P62258	1433E_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (YWHAE), transcript variant 1, mRNA.	50					G2/M transition of mitotic cell cycle|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding	p.Y49C(1)		kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		CAATCACATTCTTATATGCAA	0.423			T	"FAM22a, FAM22B"	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome						4	84					0	0	1	0	0	G	1268267	C	G	1268267	3	3	47	1	0	0	0	0	1	0	0	0	17499	912	32	5	637	5	YWHAE	17	1268267	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08		1268267	79926943	78	1934											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			12	18					0	0	1	0	0	A	7577121	G	A	7577121	3	1	47	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	6308854	7577121	73618089	79	1935											
TP53	7157	broad.mit.edu	37	chr17	7578191	7578191	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagacctcaggcggctcatAgggcaccaccacactatgtc	10	6	9	16	1	2	1	2	0	0	1	3	1	2	1	4	3	0	2	4	3	2	2			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr17:7578191A>G	uc002gim.2	-	5	852	c.658T>C	c.(658-660)Tat>Cat	p.Y220H	TP53_uc002gig.1_Missense_Mutation_p.Y220H|TP53_uc002gih.3_Missense_Mutation_p.Y220H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y88H|TP53_uc010cnf.1_Missense_Mutation_p.Y88H|TP53_uc002gii.1_Missense_Mutation_p.Y88H|TP53_uc010cni.1_Missense_Mutation_p.Y220H|TP53_uc010cnh.1_Missense_Mutation_p.Y220H|TP53_uc002gij.2_Missense_Mutation_p.Y220H|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127H|TP53_uc002gio.2_Missense_Mutation_p.Y88H|TP53_uc010vug.2_Missense_Mutation_p.Y181H|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(238)|p.Y220N(24)|p.Y220H(19)|p.?(11)|p.Y220S(10)|p.0?(8)|p.Y220D(5)|p.P219S(4)|p.P219P(4)|p.Y220fs*27(4)|p.Y220*(3)|p.P219L(3)|p.Y220_P223delYEPP(2)|p.V218_Y220delVPY(2)|p.V216_Y220delVVVPY(2)|p.P219T(2)|p.Y220fs*25(2)|p.V218_E221delVPYE(2)|p.Y220fs*2(2)|p.V218_E224delVPYEPPE(2)|p.K164_P219del(1)|p.Y220L(1)|p.S215fs*27(1)|p.Y220fs*1(1)|p.V218_P219insX(1)|p.D208fs*1(1)|p.P219R(1)|p.P219C(1)|p.P219H(1)|p.V218fs*26(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)		GGCGGCTCATAGGGCACCACC	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	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)			16	27					0	0	1	0	0	G	7578191	A	G	7578191	3	3	47	1	0	0	0	0	1	0	0	0	16378	420	15	4	636	4	TP53	17	7578191	Missense_Mutation	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	1070	7578191	73617019	80	1936											
TAOK1	57551	broad.mit.edu	37	chr17	27778575	27778578	+	Frame_Shift_Del	DEL	AACT	AACT	-																															ctgctcagcaggatgccatcAactaacagagcaggcagcct																										TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr17:27778575_27778578delAACT	uc002hdz.2	+	1	203_206	c.9_12delAACT	c.(7-12)tcaactfs	p.S3fs	TAOK1_uc010wbe.2_Frame_Shift_Del_p.S3fs	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Homo sapiens TAO kinase 1 (TAOK1), transcript variant 1, mRNA.	3					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			GGATGCCATCAACTAACAGAGCAG	0.446													16	28	---	---	---	---						-	27778578	AACT	-	27778575	7	5	47	1	0	1	0	1	0	0	0	0	15544	117	5	0	11	0	TAOK1	17	27778575	Frame_Shift_Del	DEL	AACT	TCGA-DB-A64X-01A-11D-A29Q-08	20200384	27778575	53416635	81	1937											
KRT28	162605	broad.mit.edu	37	chr17	38954585	38954585	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcagctcgtccaggactcGccgtaatccgttgatgtcgg	6	10	12	13	6	1	1	1	1	0	0	6	2	3	2	3	2	1	3	3	2	1	2			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr17:38954585G>A	uc002hvh.1	-	2	658	c.592C>T	c.(592-594)Cga>Tga	p.R198*		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	Homo sapiens keratin 28 (KRT28), mRNA.	198	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.R198Q(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TCCAGGACTCGCCGTAATCCG	0.498													9	70					0	0	1	0	0	A	38954585	G	A	38954585	4	1	47	1	0	0	0	0	0	1	0	0	8465	1095	38	1	826	1	KRT28	17	38954585	Nonsense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	11176010	38954585	42240625	82	1938											
KRT31	3881	broad.mit.edu	37	chr17	39553720	39553720	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggtgcagctgtggcagctGgggggcacgcagggccggga	6	4	22	9	2	0	0	0	0	0	0	0	1	0	1	1	7	3	6	1	7	0	0			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr17:39553720G>C	uc002hwn.3	-	0	125	c.72C>G	c.(70-72)ccC>ccG	p.P24P	KRT31_uc010cxn.3_Silent_p.P24P	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	24	Head.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TGTGGCAGCTGGGGGGCACGC	0.662													32	47					0	0	1	0	0	C	39553720	G	C	39553720	2	2	47	1	0	0	0	0	0	0	0	1	8467	1335	47	5		5	KRT31	17	39553720	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	599135	39553720	41641490	83	1939											
MUC16	94025	broad.mit.edu	37	chr19	9089904	9089904	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggccagagtcaaatctgcGgatgtctcagatgatgctgt	9	11	13	8	1	3	3	2	1	2	2	4	4	3	4	1	2	2	1	1	2	1	0			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr19:9089904G>A	uc002mkp.3	-	0	2115	c.1911C>T	c.(1909-1911)tcC>tcT	p.S637S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	637	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S637S(3)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCAAATCTGCGGATGTCTCAG	0.582													5	120					0	0	1	0	0	A	9089904	G	A	9089904	2	1	47	1	0	0	0	0	0	0	0	1	9973	1103	39	2		2	MUC16	19	9089904	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08		9089904	50039079	84	1940											
NANOS3	342977	broad.mit.edu	37	chr19	13988120	13988120	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcacacctggttagggctCtgagtgggaaagagggtcct	8	9	16	8	0	1	2	0	1	1	1	2	3	2	3	2	5	0	3	2	5	2	1			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr19:13988120C>G	uc002mxj.4	+	0	58	c.58C>G	c.(58-60)Ctg>Gtg	p.L20V		NM_001098622	NP_001092092	P60323	NANO3_HUMAN	Homo sapiens nanos homolog 3 (Drosophila) (NANOS3), mRNA.	20					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGTTAGGGCTCTGAGTGGGAA	0.617													4	267					0	0	1	0	0	G	13988120	C	G	13988120	3	3	47	1	0	0	0	0	1	0	0	0	10153	912	32	5	60	5	NANOS3	19	13988120	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	4898216	13988120	45140863	85	1941											
MED26	9441	broad.mit.edu	37	chr19	16689204	16689204	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagatgacttccagcaccGccaccatgttccggatctgt	8	10	10	13	2	1	2	0	1	1	1	3	4	3	3	5	2	1	2	5	2	0	2			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr19:16689204G>A	uc002nen.1	-	1	350	c.89C>T	c.(88-90)gCg>gTg	p.A30V	MED26_uc002nee.2_Non-coding_Transcript	NM_004831	NP_004822	O95402	MED26_HUMAN	Homo sapiens mediator complex subunit 26 (MED26), mRNA.	30	TFIIS N-terminal.				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						TTCCAGCACCGCCACCATGTT	0.557													30	42					0	0	1	0	0	A	16689204	G	A	16689204	3	1	47	1	0	0	0	0	1	0	0	0	9444	1087	38	1	1721	1	MED26	19	16689204	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	2701084	16689204	42439779	86	1942											
GMIP	51291	broad.mit.edu	37	chr19	19745858	19745858	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatccagggcacggtgttcTatctcagccgtgcacttcgt	7	11	10	13	3	2	0	1	0	2	0	5	0	3	0	2	2	2	3	2	2	1	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr19:19745858T>G	uc002nnd.3	-	15	1842	c.1725A>C	c.(1723-1725)atA>atC	p.I575I	GMIP_uc010xrb.2_Silent_p.I549I|GMIP_uc010xrc.2_Silent_p.I546I	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	Homo sapiens GEM interacting protein (GMIP), mRNA.	575	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity|metal ion binding|protein binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CACGGTGTTCTATCTCAGCCG	0.582													58	76					0	0	1	0	0	G	19745858	T	G	19745858	2	3	47	1	0	0	0	0	0	0	0	1	6491	1512	53	5		5	GMIP	19	19745858	Silent	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	3056654	19745858	39383125	87	1943											
EML2	24139	broad.mit.edu	37	chr19	46124545	46124545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccacgtacagtgtgtctcCgtggccctctgccacggtgc	4	9	11	17	3	2	0	0	0	2	0	3	0	2	0	5	2	3	1	5	2	1	1			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr19:46124545C>T	uc010xxm.2	-	13	1718	c.1645G>A	c.(1645-1647)Gga>Aga	p.G549R	EML2_uc002pcn.3_Missense_Mutation_p.G348R|EML2_uc002pcp.3_Missense_Mutation_p.G232R|EML2_uc002pco.3_Non-coding_Transcript|EML2_uc010xxl.2_Missense_Mutation_p.G495R|EML2_uc010xxn.1_Non-coding_Transcript|EML2_uc010xxo.2_Missense_Mutation_p.G348R|EML2_uc010ekj.3_Silent_p.T314T	NM_001193268	NP_001180197	O95834	EMAL2_HUMAN	Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA.	348					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		AGTGTGTCTCCGTGGCCCTCT	0.627													35	63					0	0	1	0	0	T	46124545	C	T	46124545	3	4	47	1	0	0	0	0	1	0	0	0	5097	661	23	2	943	2	EML2	19	46124545	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	26378687	46124545	13004438	88	1944											
HRC	3270	broad.mit.edu	37	chr19	49656971	49656971	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccggctgccatgatgggtGcctttctctccctgctctga	3	13	10	15	1	2	2	0	2	2	0	5	2	4	2	4	2	3	2	4	2	0	1			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr19:49656971G>A	uc002pmv.3	-	0	1711	c.1524C>T	c.(1522-1524)ggC>ggT	p.G508G		NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	508					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CATGATGGGTGCCTTTCTCTC	0.552													12	36					0	0	1	0	0	A	49656971	G	A	49656971	2	1	47	1	0	0	0	0	0	0	0	1	7352	1306	46	3		3	HRC	19	49656971	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	3532426	49656971	9472012	89	1945											
SIGLEC1	6614	broad.mit.edu	37	chr20	3670829	3670829	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcaggctggcgagcggctcGctgtccactcggcaatccag	6	7	14	14	4	1	0	1	0	0	0	5	1	3	0	2	4	1	4	2	4	1	0			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr20:3670829G>A	uc002wja.3	-	17	4674	c.4674C>T	c.(4672-4674)agC>agT	p.S1558S	SIGLEC1_uc002wiz.4_Silent_p.S1558S|SIGLEC1_uc002wjb.1_Silent_p.S197S	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	1558	Ig-like C2-type 16.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CGAGCGGCTCGCTGTCCACTC	0.652													4	6					0	0	1	0	0	A	3670829	G	A	3670829	2	1	47	1	0	0	0	0	0	0	0	1	14305	1078	38	1		1	SIGLEC1	20	3670829	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08		3670829	59354691	90	1946											
LIPI	149998	broad.mit.edu	37	chr21	15554174	15554174	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaccttggcccagcagggTcaagacctggaaagcaagaa	15	4	12	10	0	1	3	1	0	0	3	1	4	1	4	3	3	3	2	3	3	5	1			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr21:15554174T>C	uc002yjm.3	-	3	621	c.611A>G	c.(610-612)gAc>gGc	p.D204G	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Missense_Mutation_p.D183G|LIPI_uc021whh.1_Missense_Mutation_p.D183G|LIPI_uc021whi.1_Missense_Mutation_p.D18G|LIPI_uc021whj.1_Missense_Mutation_p.D183G|LIPI_uc021whe.1_Missense_Mutation_p.D183G|LIPI_uc021whf.1_Missense_Mutation_p.D183G	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	183					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		CCCAGCAGGGTCAAGACCTGG	0.403													3	20					0	0	1	0	0	C	15554174	T	C	15554174	3	2	47	1	0	0	0	0	1	0	0	0	8825	1667	58	3	862	3	LIPI	21	15554174	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08		15554174	32575721	91	1947											
KRTAP13-1	140258	broad.mit.edu	37	chr21	31768649	31768649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccagacctcctgctaccGtcccagaacctccttgctct	6	10	6	19	1	1	2	0	0	1	2	4	2	4	2	7	0	5	2	7	0	2	2			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr21:31768649G>A	uc002yoa.3	+	0	258	c.245G>A	c.(244-246)cGt>cAt	p.R82H		NM_181599	NP_853630	Q8IUC0	KR131_HUMAN	Homo sapiens keratin associated protein 13-1 (KRTAP13-1), mRNA.	82	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCCTGCTACCGTCCCAGAACC	0.607													13	114					0	0	1	0	0	A	31768649	G	A	31768649	3	1	47	1	0	0	0	0	1	0	0	0	8522	1145	40	1	247	1	KRTAP13-1	21	31768649	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	16214475	31768649	16361246	92	1948											
KRTAP10-3	386682	broad.mit.edu	37	chr21	45978112	45978112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggacctgcacacggggcGgcagaggagggacacggagg	9	2	21	9	3	0	1	0	0	0	1	0	5	0	5	1	9	1	2	1	9	0	0			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr21:45978112G>A	uc002zfj.1	-	0	532	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198696	NP_941969	P60369	KR103_HUMAN	Homo sapiens keratin associated protein 10-3 (KRTAP10-3), mRNA.	163	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						CACACGGGGCGGCAGAGGAGG	0.697													22	193					0	0	1	0	0	A	45978112	G	A	45978112	3	1	47	1	0	0	0	0	1	0	0	0	8510	1116	39	2	182	2	KRTAP10-3	21	45978112	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	14209463	45978112	2151783	93	1949											
KRTAP10-12	386685	broad.mit.edu	37	chr21	46117612	46117612	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctgctgtgtgcctgtcTgctctggggcctcctctctg	1	14	11	15	0	4	0	0	0	4	0	6	0	5	0	4	2	3	2	4	2	0	0			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr21:46117612T>C	uc002zfw.1	+	0	526	c.496T>C	c.(496-498)Tgc>Cgc	p.C166R	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198699	NP_941972	P60413	KR10C_HUMAN	Homo sapiens keratin associated protein 10-12 (KRTAP10-12), mRNA.	166	19 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(8)	9						TGTGCCTGTCTGCTCTGGGGC	0.637													156	220					0	0	1	0	0	C	46117612	T	C	46117612	3	2	47	1	0	0	0	0	1	0	0	0	8508	1580	55	4	498	4	KRTAP10-12	21	46117612	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	139500	46117612	2012283	94	1950											
CCDC116	164592	broad.mit.edu	37	chr22	21988388	21988388	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtgccacacccaccatcCacatgtggcagctcagcact	9	7	8	17	1	1	0	1	0	0	0	2	0	2	0	4	1	3	3	4	1	0	0			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr22:21988388C>T	uc002zve.3	+	2	243	c.150C>T	c.(148-150)tcC>tcT	p.S50S	CCDC116_uc011aih.1_Silent_p.S50S	NM_152612	NP_689825	Q8IYX3	CC116_HUMAN	Homo sapiens coiled-coil domain containing 116 (CCDC116), mRNA.	50										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					ACCCACCATCCACATGTGGCA	0.607													11	150					0	0	1	0	0	T	21988388	C	T	21988388	2	4	47	1	0	0	0	0	0	0	0	1	2753	581	21	3		3	CCDC116	22	21988388	Silent	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08		21988388	29316178	95	1951											
MAPK1	5594	broad.mit.edu	37	chr22	22142614	22142614	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgtggaagagaaagcaaaTagttcctagcttttaaattt	14	14	9	4	0	0	1	0	0	0	1	1	3	1	2	1	1	2	3	1	1	7	6			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr22:22142614T>C	uc002zvn.3	-	5	1028	c.788A>G	c.(787-789)tAt>tGt	p.Y263C	MAPK1_uc002zvo.3_Missense_Mutation_p.Y263C|MAPK1_uc010gtk.1_Intron	NM_002745	NP_620407	P28482	MK01_HUMAN	Homo sapiens mitogen-activated protein kinase 1 (MAPK1), transcript variant 1, mRNA.	263	Protein kinase.				ERK1 and ERK2 cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|RNA polymerase II carboxy-terminal domain kinase activity|phosphatase binding	p.N262T(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	AGAAAGCAAATAGTTCCTAGC	0.338													30	37					0	0	1	0	0	C	22142614	T	C	22142614	3	2	47	1	0	0	0	0	1	0	0	0	9271	1406	49	3	306	3	MAPK1	22	22142614	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	154226	22142614	29161952	96	1952											
MCM5	4174	broad.mit.edu	37	chr22	35811941	35811941	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcctggccgatggtggggtCgtctgtattgacgagtttga	5	13	16	7	3	1	2	0	2	1	0	3	4	2	2	2	4	0	2	2	4	1	3	rs143122195		TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr22:35811941C>T	uc003anu.4	+	9	1417	c.1323C>T	c.(1321-1323)gtC>gtT	p.V441V	MCM5_uc003anv.4_Silent_p.V398V|MCM5_uc010gws.2_Non-coding_Transcript|MCM5_uc003anw.1_Silent_p.V225V	NM_006739	NP_006730	P33992	MCM5_HUMAN	Homo sapiens minichromosome maintenance complex component 5 (MCM5), mRNA.	441	MCM.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						ATGGTGGGGTCGTCTGTATTG	0.587													7	349					0	0	1	0	0	T	35811941	C	T	35811941	2	4	47	1	0	0	0	0	0	0	0	1	9390	871	31	2		2	MCM5	22	35811941	Silent	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	13669327	35811941	15492625	97	1953											
FAM47C	442444	broad.mit.edu	37	chrX	37027824	37027824	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacctcctgagactggagtGtcccatctccgcccagagcc	8	7	10	16	1	1	2	0	1	1	2	4	5	3	3	6	1	2	0	6	1	1	0			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:37027824G>T	uc004ddl.2	+	0	1393	c.1341G>T	c.(1339-1341)gtG>gtT	p.V447V		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	447										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGACTGGAGTGTCCCATCTCC	0.632													55	74					5.57489e-27	5.85133e-27	1	1	0	T	37027824	G	T	37027824	2	4	47	1	0	0	0	0	0	0	0	1	5571	1364	48	5		5	FAM47C	23	37027824	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08		37027824	118242736	98	1954											
BCOR	54880	broad.mit.edu	37	chrX	39922291	39922291	+	Frame_Shift_Del	DEL	T	T	-																															cactggtggatgaaagactcTtcatgggcggagagccggag																										TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:39922291delT	uc004den.4	-	8	4173	c.3881delA	c.(3880-3882)aagfs	p.K1294fs	BCOR_uc004dep.4_Frame_Shift_Del_p.K1260fs|BCOR_uc004deo.4_Frame_Shift_Del_p.K1242fs|BCOR_uc010nhb.3_Frame_Shift_Del_p.K2fs|BCOR_uc004dem.4_Frame_Shift_Del_p.K1260fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1294					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						TGAAAGACTCTTCATGGGCGG	0.592			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						4	5	---	---	---	---						-	39922291	T	-	39922291	7	5	47	1	0	1	0	1	0	0	0	0	1386	1609	56	0	1414	0	BCOR	23	39922291	Frame_Shift_Del	DEL	T	TCGA-DB-A64X-01A-11D-A29Q-08	2894467	39922291	115348269	99	1955											
TBC1D25	4943	broad.mit.edu	37	chrX	48418191	48418191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgcgcactgaccgggccCacccctactatgcggggcct	6	7	11	17	3	0	1	0	1	0	0	0	1	0	1	5	3	4	1	5	3	3	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:48418191C>T	uc011mmb.1	+	5	993	c.907C>T	c.(907-909)Cac>Tac	p.H303Y	TBC1D25_uc004dka.1_Missense_Mutation_p.H299Y|TBC1D25_uc011mly.1_Missense_Mutation_p.H241Y|TBC1D25_uc004dkb.1_Missense_Mutation_p.H45Y|TBC1D25_uc011mlz.1_Missense_Mutation_p.H45Y|TBC1D25_uc011mma.1_Missense_Mutation_p.H45Y|TBC1D25_uc004dkc.1_Missense_Mutation_p.H45Y|TBC1D25_uc011mmd.1_Missense_Mutation_p.H45Y|TBC1D25_uc011mmc.1_Missense_Mutation_p.H45Y	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	Homo sapiens TBC1 domain family, member 25 (TBC1D25), mRNA.	299	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TGACCGGGCCCACCCCTACTA	0.632													11	47					0	0	1	0	0	T	48418191	C	T	48418191	3	4	47	1	0	0	0	0	1	0	0	0	15612	594	21	3	917	3	TBC1D25	23	48418191	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	8495900	48418191	106852369	100	1956											
RLIM	51132	broad.mit.edu	37	chrX	73812349	73812349	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctgcctcaatgtcacatgGtgccgggttctagaacttcc	7	12	10	12	1	3	1	2	0	1	1	4	1	4	1	3	2	4	2	3	2	3	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:73812349G>A	uc004ebu.3	-	4	1091	c.801C>T	c.(799-801)caC>caT	p.H267H	RLIM_uc004ebw.3_Silent_p.H267H	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	Homo sapiens ring finger protein, LIM domain interacting (RLIM), transcript variant 2, mRNA.	267					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATGTCACATGGTGCCGGGTTC	0.438													7	106					0	0	1	0	0	A	73812349	G	A	73812349	2	1	47	1	0	0	0	0	0	0	0	1	13390	1252	44	3		3	RLIM	23	73812349	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	25394158	73812349	81458211	101	1957											
ARMCX2	9823	broad.mit.edu	37	chrX	100910839	100910839	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacttctgctctgagattgTcatagataatctcaaataga	14	13	6	8	0	4	3	2	1	3	3	5	4	4	3	0	0	1	1	0	0	4	5			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:100910839T>A	uc010nnt.2	-	4	2545	c.1736A>T	c.(1735-1737)gAc>gTc	p.D579V	ARMCX2_uc004eid.2_Missense_Mutation_p.D579V|ARMCX2_uc004eie.3_Missense_Mutation_p.D579V|ARMCX2_uc004eif.3_Missense_Mutation_p.D579V|ARMCX2_uc004eig.3_Missense_Mutation_p.D579V|ARMCX2_uc022caq.1_Missense_Mutation_p.D579V	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	Homo sapiens armadillo repeat containing, X-linked 2 (ARMCX2), mRNA.	579						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TCTGAGATTGTCATAGATAAT	0.358													26	44					0	0	1	0	0	A	100910839	T	A	100910839	3	1	47	1	0	0	0	0	1	0	0	0	960	1667	58	5	166	5	ARMCX2	23	100910839	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	27098490	100910839	54359721	102	1958											
ARMCX5	64860	broad.mit.edu	37	chrX	101857471	101857471	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgtcattgaggcaaatatTaggtcctatgccaagtcaca	12	11	9	9	0	2	1	2	1	0	0	3	1	3	1	2	2	1	2	2	2	5	4			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:101857471T>A	uc022cbb.1	+	0	402	c.402T>A	c.(400-402)atT>atA	p.I134I	ARMCX5_uc004ejg.3_Silent_p.I134I|ARMCX5_uc022caw.1_Silent_p.I134I|ARMCX5_uc022cax.1_Silent_p.I134I|ARMCX5-GPRASP2_uc022cay.1_Intron|ARMCX5_uc022caz.1_Silent_p.I134I|ARMCX5_uc022cba.1_Silent_p.I134I|ARMCX5_uc004ejh.3_Silent_p.I134I	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN	Homo sapiens armadillo repeat containing, X-linked 5 (ARMCX5), transcript variant 2, mRNA.	134							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						AGGCAAATATTAGGTCCTATG	0.463													19	236					0	0	1	0	0	A	101857471	T	A	101857471	2	1	47	1	0	0	0	0	0	0	0	1	962	1742	61	5		5	ARMCX5	23	101857471	Silent	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	946632	101857471	53413089	103	1959											
TBC1D8B	54885	broad.mit.edu	37	chrX	106109197	106109197	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagactcactagctttatggAcattcagattgttagatgaa	14	13	8	6	0	2	4	2	1	0	3	2	5	2	5	0	1	1	2	0	1	5	6			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:106109197A>G	uc004emo.3	+	15	2761	c.2596A>G	c.(2596-2598)Aca>Gca	p.T866A	MORC4_uc004emp.4_Intron	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	866	EF-hand.					intracellular	Rab GTPase activator activity|calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGCTTTATGGACATTCAGATT	0.368													4	87					0	0	1	0	0	G	106109197	A	G	106109197	3	3	47	1	0	0	0	0	1	0	0	0	15623	275	10	3	2724	3	TBC1D8B	23	106109197	Missense_Mutation	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	4251726	106109197	49161363	104	1960											
NKAP	79576	broad.mit.edu	37	chrX	119077534	119077534	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccgagcccgaggcctccCtatccgggctgcgtgagccg	4	5	13	19	5	0	1	0	1	0	0	2	3	2	1	7	2	3	1	7	2	1	1			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:119077534C>A	uc004esh.3	-	0	202	c.35G>T	c.(34-36)aGg>aTg	p.R12M		NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN	Homo sapiens NFKB activating protein (NKAP), mRNA.	12	Ser-rich.				Notch signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						CGAGGCCTCCCTATCCGGGCT	0.706													3	45					0.115264	0.115264	1	1	0	A	119077534	C	A	119077534	3	1	47	1	0	0	0	0	1	0	0	0	10439	681	24	5	1248	5	NKAP	23	119077534	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	12968337	119077534	36193026	105	1961											
L1CAM	3897	broad.mit.edu	37	chrX	153130307	153130307	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtgcctccttcccgtacGatggcttcaccagggccctc	6	10	9	16	2	1	0	1	0	0	0	4	1	3	0	5	2	2	2	5	2	2	4			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:153130307G>T	uc004fjb.3	-	21	3123	c.3015C>A	c.(3013-3015)atC>atA	p.I1005I	L1CAM_uc004fjc.3_Silent_p.I1005I|L1CAM_uc010nuo.3_Silent_p.I1000I	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	1005	Fibronectin type-III 4.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTCCCGTACGATGGCTTCAC	0.632													59	165					1.45723e-30	1.54223e-30	1	1	0	T	153130307	G	T	153130307	2	4	47	1	0	0	0	0	0	0	0	1	8588	1048	37	5		5	L1CAM	23	153130307	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	34052773	153130307	2140253	106	1962											
LPHN2	23266	broad.mit.edu	37	chr1	82456736	82456736	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taccagatcagcaggggcaaTagtgatggttatataatccc	13	10	10	8	0	1	2	1	1	0	1	2	2	2	2	2	3	2	3	2	3	6	5			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr1:82456736T>C	uc001dit.4	+	20	4300	c.4119T>C	c.(4117-4119)aaT>aaC	p.N1373N	LPHN2_uc001dis.3_Silent_p.N353N|LPHN2_uc001diu.3_Silent_p.N1373N|LPHN2_uc001div.3_3'UTR|LPHN2_uc009wcd.3_3'UTR|LPHN2_uc001diw.3_Silent_p.N1000N	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	1429					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding	p.G1372C(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		gcaggggcaatagtgatggtt	0.428													48	68					0	0	0.048971	0	0	C	82456736	T	C	82456736	2	2	48	1	0	0	0	0	0	0	0	1	8916	1403	49	3		3	LPHN2	1	82456736	Silent	SNP	T	TCGA-DH-5140-01A-01D-1468-08		82456736	166793885	1	1963											
RFWD2	64326	broad.mit.edu	37	chr1	176132075	176132075	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattggccaaatcaaggttaTcttggtcagttcccaaccaa	12	11	7	11	0	3	0	2	0	1	0	4	0	4	0	3	3	1	2	3	3	5	4			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr1:176132075T>C	uc001gku.1	-	4	948	c.692A>G	c.(691-693)gAt>gGt	p.D231G	RFWD2_uc001gkv.1_Missense_Mutation_p.D227G|RFWD2_uc001gkw.1_Intron|RFWD2_uc009wwv.2_5'UTR|RFWD2_uc001gkt.1_Missense_Mutation_p.D90G	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	Homo sapiens ring finger and WD repeat domain 2 (RFWD2), transcript variant 1, mRNA.	231					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ATCAAGGTTATCTTGGTCAGT	0.358													80	97					0	0	0.048971	0	0	C	176132075	T	C	176132075	3	2	48	1	0	0	0	0	1	0	0	0	13260	1435	50	3	1567	3	RFWD2	1	176132075	Missense_Mutation	SNP	T	TCGA-DH-5140-01A-01D-1468-08	93675339	176132075	73118546	2	1964											
KISS1	3814	broad.mit.edu	37	chr1	204159803	204159803	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctgggggctcccggagctctCggggggcggggacagcgagg	4	4	22	11	4	1	0	0	0	1	0	3	3	2	2	1	9	2	2	1	9	0	0			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr1:204159803C>G	uc001har.3	-	2	380	c.226G>C	c.(226-228)Gag>Cag	p.E76Q		NM_002256	NP_002247	Q15726	KISS1_HUMAN	Homo sapiens KiSS-1 metastasis-suppressor (KISS1), mRNA.	76					cytoskeleton organization	extracellular region	protein binding			large_intestine(1)|lung(1)|ovary(1)	3	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)		CCGGAGCTCTCGGGGGGCGGG	0.756													2	10					0	0	0.004672	0	0	G	204159803	C	G	204159803	3	3	48	1	0	0	0	0	1	0	0	0	8327	893	31	5	194	5	KISS1	1	204159803	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08	28027728	204159803	45090818	3	1965											
APOB	338	broad.mit.edu	37	chr2	21228172	21228172	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaatggtctgctcaggcacGatgatggtgggcaactcaaa	11	9	12	9	1	4	1	3	1	1	0	4	2	4	1	0	4	2	3	0	4	3	0			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr2:21228172G>A	uc002red.3	-	25	11696	c.11568C>T	c.(11566-11568)atC>atT	p.I3856I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3856					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCTCAGGCACGATGATGGTGG	0.473													110	119					0	0	0.048971	0	0	A	21228172	G	A	21228172	2	1	48	1	0	0	0	0	0	0	0	1	785	1048	37	2		2	APOB	2	21228172	Silent	SNP	G	TCGA-DH-5140-01A-01D-1468-08		21228172	221971201	4	1966											
IL1R2	7850	broad.mit.edu	37	chr2	102626194	102626194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actctgctaggacggtcccaGgagaagaagagacacggatg	13	5	14	9	2	1	3	0	0	1	3	2	7	2	5	1	4	1	1	1	4	3	1			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr2:102626194G>A	uc002tbm.3	+	2	467	c.238G>A	c.(238-240)Gga>Aga	p.G80R	IL1R2_uc002tbn.3_Missense_Mutation_p.G80R|IL1R2_uc002tbo.1_Missense_Mutation_p.G80R	NM_004633	NP_775465	P27930	IL1R2_HUMAN	Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA.	80	Ig-like C2-type 1.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	GACGGTCCCAGGAGAAGAAGA	0.592													13	546					0	0	0.105934	0	0	A	102626194	G	A	102626194	3	1	48	1	0	0	0	0	1	0	0	0	7659	1001	35	3	244	3	IL1R2	2	102626194	Missense_Mutation	SNP	G	TCGA-DH-5140-01A-01D-1468-08	81398022	102626194	140573179	5	1967											
ACOXL	55289	broad.mit.edu	37	chr2	111562956	111562956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attagctgtggctttccaagCtatgggtgccatgaaggtaa	10	12	12	7	0	0	1	0	1	0	0	1	1	1	1	2	3	3	4	2	3	5	4			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr2:111562956C>T	uc010yxk.1	+	8	961	c.737C>T	c.(736-738)gCt>gTt	p.A246V	ACOXL_uc021vmm.1_Missense_Mutation_p.A69V|ACOXL_uc021vmn.1_Missense_Mutation_p.A69V	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	246					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GCTTTCCAAGCTATGGGTGCC	0.453													75	116					0	0	0.048971	0	0	T	111562956	C	T	111562956	3	4	48	1	0	0	0	0	1	0	0	0	161	797	28	3	767	3	ACOXL	2	111562956	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08	8936762	111562956	131636417	6	1968											
UGGT1	56886	broad.mit.edu	37	chr2	128938471	128938471	+	Frame_Shift_Del	DEL	T	T	-																															tgtctaaaaataggagtttaTaccttacatggcaaatgaat																										TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr2:128938471delT	uc002tps.3	+	35	4086	c.3908delT	c.(3907-3909)atafs	p.I1303fs	UGGT1_uc002tpr.3_Frame_Shift_Del_p.I1279fs	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	1303	Glucosyltransferase (By similarity).				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TAGGAGTTTATACCTTACATG	0.373													54	75	---	---	---	---						-	128938471	T	-	128938471	7	5	48	1	0	1	0	1	0	0	0	0	16938	1406	49	0	4050	0	UGGT1	2	128938471	Frame_Shift_Del	DEL	T	TCGA-DH-5140-01A-01D-1468-08	17375515	128938471	114260902	7	1969											
ITGB6	3694	broad.mit.edu	37	chr2	160998543	160998543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttccggagtccttctgaaGtagacctactgtagctccag	8	12	10	11	1	1	2	0	1	1	1	4	3	4	3	4	1	2	4	4	1	4	5			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr2:160998543G>A	uc002ubh.2	-	7	1072	c.1057C>T	c.(1057-1059)Ctt>Ttt	p.L353F	ITGB6_uc010fow.1_Non-coding_Transcript|ITGB6_uc010fou.2_Missense_Mutation_p.L353F|ITGB6_uc010zcq.1_Missense_Mutation_p.L311F|ITGB6_uc010fov.1_Missense_Mutation_p.L353F	NM_000888	NP_000879	P18564	ITB6_HUMAN	Homo sapiens integrin, beta 6 (ITGB6), mRNA.	353	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TCCTTCTGAAGTAGACCTACT	0.373													5	112					0	0	0.014758	0	0	A	160998543	G	A	160998543	3	1	48	1	0	0	0	0	1	0	0	0	7899	1029	36	3	1341	3	ITGB6	2	160998543	Missense_Mutation	SNP	G	TCGA-DH-5140-01A-01D-1468-08	32060072	160998543	82200830	8	1970											
SETD2	29072	broad.mit.edu	37	chr3	47103668	47103705	+	Frame_Shift_Del	DEL	TTTGTTCCCCGCTCATAGGCAGAAGAGGGTGGTGAGAG	TTTGTTCCCCGCTCATAGGCAGAAGAGGGTGGTGAGAG	-																															cttacctgtcatctggccttTttgttccccgctcataggca																								rs149758106		TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr3:47103668_47103705delTTTGTTCCCCGCTCATAGGCAGAAGAGGGTGGTGAGAG	uc003cqv.3	-	14	6528_6565	c.6442_6479delCTCTCACCACCCTCTTCTGCCTATGAGCGGGGAACAAA	c.(6442-6480)ctctcaccaccctcttctgcctatgagcggggaacaaaafs	p.L2148fs	SETD2_uc003cqs.3_Frame_Shift_Del_p.L2081fs|SETD2_uc003cqt.1_Non-coding_Transcript	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	2081	Low charge region.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATCTGGCCTTTTTGTTCCCCGCTCATAGGCAGAAGAGGGTGGTGAGAGGGAGCTTCTT	0.429			"N, F, S, Mis"		clear cell renal carcinoma								38	490	---	---	---	---						-	47103705	TTTGTTCCCCGCTCATAGGCAGAAGAGGGTGGTGAGAG	-	47103668	7	5	48	1	0	1	0	1	0	0	0	0	14131	1841	64	0	1448	0	SETD2	3	47103668	Frame_Shift_Del	DEL	TTTGTTCCCCGCTCATAGGCAGAAGAGGGTGGTGAGAG	TCGA-DH-5140-01A-01D-1468-08		47103668	150918762	9	1971											
NDUFAF3	25915	broad.mit.edu	37	chr3	49059582	49059582	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcgcgttggtcagccatggCcaccgctctcgcgctacgta	5	8	12	16	7	2	0	1	0	1	0	3	0	2	0	3	2	2	4	3	2	2	3			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr3:49059582C>G	uc003cvq.3	+	0	509	c.5C>G	c.(4-6)gCc>gGc	p.A2G	DALRD3_uc003cvm.1_5'Flank|DALRD3_uc010hko.1_5'Flank|MIR425_uc011bcb.1_5'Flank|NDUFAF3_uc003cvn.3_Intron|MIR191_uc003cvo.1_5'Flank|NDUFAF3_uc003cvp.3_Intron|NDUFAF3_uc003cvr.3_Intron	NM_199069	NP_951056	Q9BU61	NDUF3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3 (NDUFAF3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	2					mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						TCAGCCATGGCCACCGCTCTC	0.716											OREG0015566	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	22					0	0	0.09319	0	0	G	49059582	C	G	49059582	3	3	48	1	0	0	0	0	1	0	0	0	10276	739	26	5	7	5	NDUFAF3	3	49059582	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08	1955914	49059582	148962848	10	1972											
TP63	8626	broad.mit.edu	37	chr3	189612149	189612149	+	Frame_Shift_Del	DEL	G	G	-																															tgtgggctccagtgagacccGgggtgagcgtgttattgatg																										TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr3:189612149delG	uc003fry.2	+	13	1990	c.1901delG	c.(1900-1902)cggfs	p.R634fs	TP63_uc003frz.2_3'UTR|TP63_uc010hzc.1_3'UTR|TP63_uc003fsc.2_Frame_Shift_Del_p.R540fs|TP63_uc003fsd.2_3'UTR|TP63_uc021xir.1_3'UTR|TP63_uc010hzd.1_Frame_Shift_Del_p.R455fs	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	634	Transactivation inhibition.				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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AGTGAGACCCGGGGTGAGCGT	0.567										HNSCC(45;0.13)			107	156	---	---	---	---						-	189612149	G	-	189612149	7	5	48	1	0	1	0	1	0	0	0	0	16389	1116	39	0	2120	0	TP63	3	189612149	Frame_Shift_Del	DEL	G	TCGA-DH-5140-01A-01D-1468-08	140552567	189612149	8410281	11	1973											
UBXN7	26043	broad.mit.edu	37	chr3	196094958	196094958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atccagttgtccatgttcacCcagaaatcccgtcacttggt	9	12	7	13	1	2	1	2	0	0	1	5	1	5	1	4	1	0	2	4	1	1	3			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr3:196094958C>T	uc003fwm.4	-	7	850	c.775G>A	c.(775-777)Ggt>Agt	p.G259S	UBXN7_uc003fwn.4_Missense_Mutation_p.G111S|UBXN7_uc010iae.3_Missense_Mutation_p.G97S	NM_015562	NP_056377	O94888	UBXN7_HUMAN	Homo sapiens UBX domain protein 7 (UBXN7), mRNA.	259							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CCATGTTCACCCAGAAATCCC	0.398													19	232					0	0	0.043863	0	0	T	196094958	C	T	196094958	3	4	48	1	0	0	0	0	1	0	0	0	16915	623	22	3	710	3	UBXN7	3	196094958	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08	6482809	196094958	1927472	12	1974											
HIST1H4G	8369	broad.mit.edu	37	chr6	26247163	26247163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcgatggcacttggcacCgcctttcccaaggccttttc	5	12	9	15	2	0	0	0	0	0	0	2	1	1	0	4	3	1	2	4	3	1	5			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr6:26247163C>T	uc003nhf.3	-	0	43	c.43G>A	c.(43-45)Ggt>Agt	p.G15S		NM_003547	NP_003538	Q99525	H4G_HUMAN	Homo sapiens histone cluster 1, H4g (HIST1H4G), mRNA.	15					nucleosome assembly	nucleosome|nucleus	DNA binding	p.G15S(2)		breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CACTTGGCACCGCCTTTCCCA	0.517													20	93					0	0	0.049695	0	0	T	26247163	C	T	26247163	3	4	48	1	0	0	0	0	1	0	0	0	7171	652	23	2	257	2	HIST1H4G	6	26247163	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08		26247163	144867904	13	1975											
HLA-DQA2	3118	broad.mit.edu	37	chr6	32713607	32713607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttccaagtttcctgtgaCgctgggtcagcccaacaccc	7	11	9	14	1	1	1	1	1	0	0	3	1	3	1	4	1	2	3	4	1	2	3	rs144060347		TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr6:32713607C>T	uc003obx.3	+	2	429	c.371C>T	c.(370-372)aCg>aTg	p.T124M		NM_020056	NP_064440	P01906	DQA2_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 2 (HLA-DQA2), mRNA.	124	Alpha-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTCCTGTGACGCTGGGTCAG	0.507													121	120					0	0	0.048971	0	0	T	32713607	C	T	32713607	3	4	48	1	0	0	0	0	1	0	0	0	7205	536	19	1	381	1	HLA-DQA2	6	32713607	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08	6466444	32713607	138401460	14	1976											
SLC25A40	55972	broad.mit.edu	37	chr7	87466058	87466058	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttacctgaaaataatccGgaaaatccatttttagcaac	15	14	4	8	1	0	1	0	1	0	0	2	2	2	2	3	1	3	1	3	1	8	7			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr7:87466058G>A	uc003uje.3	-	10	1266	c.891C>T	c.(889-891)tcC>tcT	p.S297S		NM_018843	NP_061331	Q8TBP6	S2540_HUMAN	Homo sapiens solute carrier family 25, member 40 (SLC25A40), nuclear gene encoding mitochondrial protein, mRNA.	297					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					AAAATAATCCGGAAAATCCAT	0.259													28	58					0	0	0.099896	0	0	A	87466058	G	A	87466058	2	1	48	1	0	0	0	0	0	0	0	1	14505	1103	39	2		2	SLC25A40	7	87466058	Silent	SNP	G	TCGA-DH-5140-01A-01D-1468-08		87466058	71672605	15	1977											
CPA1	1357	broad.mit.edu	37	chr7	130024455	130024455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accccaacaggaactgggacGctggctttgggtgtaaggcc	9	7	14	11	1	0	0	0	0	0	0	0	2	0	2	3	5	2	3	3	5	3	2			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr7:130024455G>A	uc003vpx.3	+	6	847	c.775G>A	c.(775-777)Gct>Act	p.A259T	CPA1_uc003vpw.2_Missense_Mutation_p.A93T	NM_001868	NP_001859	P15085	CBPA1_HUMAN	Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA.	259					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GAACTGGGACGCTGGCTTTGG	0.602													11	140					0	0	0.105934	0	0	A	130024455	G	A	130024455	3	1	48	1	0	0	0	0	1	0	0	0	3789	1087	38	1	801	1	CPA1	7	130024455	Missense_Mutation	SNP	G	TCGA-DH-5140-01A-01D-1468-08	42558397	130024455	29114208	16	1978											
PHF20L1	51105	broad.mit.edu	37	chr8	133837542	133837542	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagataaggaaagaagagAgaagagagacaaagatcact	24	3	11	3	0	1	7	1	0	0	7	1	10	1	8	0	1	0	0	0	1	7	1			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr8:133837542A>C	uc003ytt.3	+	13	1995	c.1670A>C	c.(1669-1671)gAg>gCg	p.E557A	PHF20L1_uc003yts.3_3'UTR|PHF20L1_uc011lja.2_Missense_Mutation_p.E531A|PHF20L1_uc003ytu.1_Non-coding_Transcript	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	557	Lys-rich.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			gaaagaagagagaagagagac	0.338													3	37					0	0	0.004672	0	0	C	133837542	A	C	133837542	3	2	48	1	0	0	0	0	1	0	0	0	11832	304	11	5	1816	5	PHF20L1	8	133837542	Missense_Mutation	SNP	A	TCGA-DH-5140-01A-01D-1468-08		133837542	12526480	17	1979											
PELI3	246330	broad.mit.edu	37	chr11	66243277	66243277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagcccgtggccgcacagCgcccgacaaacagcagccct	9	2	10	20	4	0	0	0	0	0	0	0	1	0	0	5	1	5	2	5	1	1	0			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr11:66243277C>T	uc001oic.4	+	7	1213	c.1049C>T	c.(1048-1050)gCg>gTg	p.A350V	PELI3_uc021qlx.1_Missense_Mutation_p.A326V|PELI3_uc001oid.4_Missense_Mutation_p.A326V|PELI3_uc021qly.1_Missense_Mutation_p.A243V	NM_145065	NP_001230065	Q8N2H9	PELI3_HUMAN	Homo sapiens pellino homolog 3 (Drosophila) (PELI3), transcript variant 1, mRNA.	350						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						GGCCGCACAGCGCCCGACAAA	0.736													3	14					0	0	0.014758	0	0	T	66243277	C	T	66243277	3	4	48	1	0	0	0	0	1	0	0	0	11723	768	27	1	1075	1	PELI3	11	66243277	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08		66243277	68763239	18	1980											
INTS4	92105	broad.mit.edu	37	chr11	77639508	77639508	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcatcgttgaacatgtcAactaggaaatcaaggcactt	14	12	7	8	1	3	1	3	1	0	0	4	2	3	2	0	2	2	2	0	2	5	4			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr11:77639508A>T	uc001oys.3	-	10	1279	c.1251T>A	c.(1249-1251)gtT>gtA	p.V417V	INTS4_uc001oyt.3_Non-coding_Transcript|INTS4_uc001oyu.1_Silent_p.V417V	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	Homo sapiens integrator complex subunit 4 (INTS4), mRNA.	417					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TGAACATGTCAACTAGGAAAT	0.443													47	24					0	0	0.039052	0	0	T	77639508	A	T	77639508	2	4	48	1	0	0	0	0	0	0	0	1	7780	117	5	5		5	INTS4	11	77639508	Silent	SNP	A	TCGA-DH-5140-01A-01D-1468-08	11396231	77639508	57367008	19	1981											
MAML2	84441	broad.mit.edu	37	chr11	95712904	95712904	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacaattgctttgggtttctCtgttgggtcaattgattcat	8	18	9	6	0	3	1	2	1	1	0	4	1	3	1	0	2	2	3	0	2	3	6			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr11:95712904C>G	uc001pfw.1	-	4	3964	c.2679G>C	c.(2677-2679)caG>caC	p.Q893H		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA.	893					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TTGGGTTTCTCTGTTGGGTCA	0.408			T	"MECT1, CRTC3"	salivary gland mucoepidermoid								112	90					0	0	0.048971	0	0	G	95712904	C	G	95712904	3	3	48	1	0	0	0	0	1	0	0	0	9206	912	32	5	795	5	MAML2	11	95712904	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08	18073396	95712904	39293612	20	1982											
ATN1	1822	broad.mit.edu	37	chr12	7046127	7046127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcaggccccaatggccCtccagtctcttcctcttcca	7	9	6	19	0	2	0	0	0	2	0	6	0	5	0	7	2	1	1	7	2	2	2			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr12:7046127C>T	uc001qrw.1	+	4	1934	c.1697C>T	c.(1696-1698)cCt>cTt	p.P566L	ATN1_uc001qrx.1_Missense_Mutation_p.P566L	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	566	Involved in binding BAIAP2.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CCCAATGGCCCTCCAGTCTCT	0.637													17	196					0	0	0.038395	0	0	T	7046127	C	T	7046127	3	4	48	1	0	0	0	0	1	0	0	0	1111	681	24	3	1711	3	ATN1	12	7046127	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08		7046127	126805768	21	1983											
ZCRB1	85437	broad.mit.edu	37	chr12	42711595	42711595	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgaatagcttacctgtttGttgtttattgccctggtaca	8	17	9	7	0	0	1	0	1	0	0	0	2	0	1	2	1	4	5	2	1	5	8			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr12:42711595G>T	uc001rmz.3	-	3	428	c.219C>A	c.(217-219)aaC>aaA	p.N73K		NM_033114	NP_149105	Q8TBF4	ZCRB1_HUMAN	Homo sapiens zinc finger CCHC-type and RNA binding motif 1 (ZCRB1), mRNA.	73	RRM.				mRNA processing	U12-type spliceosomal complex|nucleoplasm	RNA binding|nucleotide binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		TTACCTGTTTGTTGTTTATTG	0.393													91	130					1.31458e-49	1.49801e-49	0.048971	1	0	T	42711595	G	T	42711595	3	4	48	1	0	0	0	0	1	0	0	0	17593	1368	48	5	454	5	ZCRB1	12	42711595	Missense_Mutation	SNP	G	TCGA-DH-5140-01A-01D-1468-08	35665468	42711595	91140300	22	1984											
SPTBN5	51332	broad.mit.edu	37	chr15	42172441	42172441	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtctgcttctccagccacaActggagctccccacaggaac	9	8	8	16	0	2	0	0	0	2	0	4	2	3	2	4	2	5	2	4	2	2	1			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr15:42172441A>G	uc001zos.3	-	13	2956	c.2623T>C	c.(2623-2625)Ttg>Ctg	p.L875L		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	910					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCCAGCCACAACTGGAGCTCC	0.632													4	10					0	0	0.047766	0	0	G	42172441	A	G	42172441	2	3	48	1	0	0	0	0	0	0	0	1	15121	40	2	3		3	SPTBN5	15	42172441	Silent	SNP	A	TCGA-DH-5140-01A-01D-1468-08		42172441	60358951	23	1985											
TNFAIP8L3	388121	broad.mit.edu	37	chr15	51397261	51397261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgagtcttgtttgtaacgtgGcatcccttgtgccttgggtc	4	16	12	9	1	1	1	0	1	1	0	3	1	2	1	2	2	2	3	2	2	1	5			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr15:51397261G>A	uc001zyy.3	-	0	213	c.113C>T	c.(112-114)gCc>gTc	p.A38V		NM_207381	NP_997264	Q5GJ75	TP8L3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 8-like 3 (TNFAIP8L3), mRNA.	38			A -> T (in dbSNP:rs17647084).							endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		TTGTAACGTGGCATCCCTTGT	0.522													6	233					0	0	0.021553	0	0	A	51397261	G	A	51397261	3	1	48	1	0	0	0	0	1	0	0	0	16276	1203	42	3	777	3	TNFAIP8L3	15	51397261	Missense_Mutation	SNP	G	TCGA-DH-5140-01A-01D-1468-08	9224820	51397261	51134131	24	1986											
ACAN	176	broad.mit.edu	37	chr15	89398499	89398499	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggacagggcaagtggactgCcctctggagacctggactcc	8	6	15	12	0	1	1	0	0	1	1	2	5	2	4	3	5	1	1	3	5	1	0			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr15:89398499C>T	uc010upo.1	+	11	3057	c.2683C>T	c.(2683-2685)Ccc>Tcc	p.P895S	ACAN_uc010upp.1_Missense_Mutation_p.P895S|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	895					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AAGTGGACTGCCCTCTGGAGA	0.572													40	53					0	0	0.080422	0	0	T	89398499	C	T	89398499	3	4	48	1	0	0	0	0	1	0	0	0	117	739	26	3	2725	3	ACAN	15	89398499	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08	38001238	89398499	13132893	25	1987											
ABCC12	94160	broad.mit.edu	37	chr16	48174762	48174762	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaaaagggctatgcacaGtccaatgccaacccagactt	14	6	9	12	0	0	1	0	0	0	1	1	1	1	1	3	2	3	3	3	2	5	2			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr16:48174762G>A	uc002efc.1	-	3	839	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Silent_p.L165L|ABCC12_uc010vgj.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	165	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GCTATGCACAGTCCAATGCCA	0.537													76	97					0	0	0.048971	0	0	A	48174762	G	A	48174762	2	1	48	1	0	0	0	0	0	0	0	1	52	1020	36	3		3	ABCC12	16	48174762	Silent	SNP	G	TCGA-DH-5140-01A-01D-1468-08		48174762	42179991	26	1988											
TP53	7157	broad.mit.edu	37	chr17	7574025	7574025	+	Frame_Shift_Del	DEL	C	C	-																															aacatctcgaagcgctcacgCccacggatctgcagcaacag																										TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr17:7574025delC	uc002gim.2	-	9	1196	c.1002delG	c.(1000-1002)gggfs	p.G334fs	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Intron|TP53_uc010cne.1_Intron|TP53_uc010cng.1_3'UTR|TP53_uc010cnf.1_3'UTR|TP53_uc002gii.1_Frame_Shift_Del_p.G202fs|TP53_uc010cni.1_3'UTR|TP53_uc010cnh.1_3'UTR|TP53_uc002gij.2_Frame_Shift_Del_p.G334fs|DL476313_uc021tpe.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	334	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		G -> V (in sporadic cancers; somatic mutation).|G -> W (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.G334V(5)|p.R333fs*12(2)|p.?(1)|p.G334W(1)|p.I332fs*5(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)		AGCGCTCACGCCCACGGATCT	0.522		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)			19	38	---	---	---	---						-	7574025	C	-	7574025	7	5	48	1	0	1	0	1	0	0	0	0	16378	726	26	0	187	0	TP53	17	7574025	Frame_Shift_Del	DEL	C	TCGA-DH-5140-01A-01D-1468-08		7574025	73621185	27	1989	7	2									
TP53	7157	broad.mit.edu	37	chr17	7574035	7574035	+	Splice_Site	SNP	T	T	G																															agcgctcacgcccacggatcTgcagcaacagaggaggggga																										TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr17:7574035T>G	uc002gim.2	-	10	1188	c.994_splice	c.e10-1	p.I332_splice	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Intron|TP53_uc010cne.1_Intron|TP53_uc010cng.1_Splice_Site|TP53_uc010cnf.1_Splice_Site|TP53_uc002gii.1_Splice_Site_p.I200_splice|TP53_uc010cni.1_Splice_Site|TP53_uc010cnh.1_Splice_Site|TP53_uc002gij.2_Splice_Site_p.I332_splice|DL476313_uc021tpe.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	332	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		I -> V (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(10)|p.0?(8)|p.I332fs*49(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)		CCCACGGATCTGCAGCAACAG	0.507		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)			14	31					0	0	0.024245	0	0	G	7574035	T	G	7574035	5	3	48	1	0	0	0	0	0	0	1	0	16378	1594	55	5	197	5	TP53	17	7574035	Splice_Site	SNP	T	TCGA-DH-5140-01A-01D-1468-08	10	7574035	73621175	28	1990	7	2									
TP53	7157	broad.mit.edu	37	chr17	7577572	7577572	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcaggaactgttacacaTgtagttgtagtggatggtgg	10	12	14	5	0	0	0	0	0	0	0	0	2	0	2	0	4	3	5	0	4	4	4			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr17:7577572T>C	uc002gim.2	-	6	903	c.709A>G	c.(709-711)Atg>Gtg	p.M237V	TP53_uc002gig.1_Missense_Mutation_p.M237V|TP53_uc002gih.3_Missense_Mutation_p.M237V|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.M105V|TP53_uc010cnf.1_Missense_Mutation_p.M105V|TP53_uc002gii.1_Missense_Mutation_p.M105V|TP53_uc010cni.1_Missense_Mutation_p.M237V|TP53_uc010cnh.1_Missense_Mutation_p.M237V|TP53_uc002gij.2_Missense_Mutation_p.M237V|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.M144V|TP53_uc002gio.2_Missense_Mutation_p.M105V|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	237	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.M237I(109)|p.Y236C(52)|p.Y236N(12)|p.M237V(12)|p.Y236*(10)|p.Y236H(9)|p.M237K(9)|p.0?(8)|p.M237L(8)|p.Y236D(7)|p.M237fs*10(6)|p.?(5)|p.Y236del(4)|p.M237_N239delMCN(3)|p.Y236S(3)|p.M237R(3)|p.Y236_M243delYMCNSSCM(2)|p.Y236fs*4(2)|p.Y236_M237>*L(2)|p.Y236_M237insXX(2)|p.Y236Y(2)|p.M237fs*1(2)|p.Y236_M237delYM(2)|p.H233_C242del10(2)|p.M237T(2)|p.M144L(1)|p.V225fs*23(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.N235_Y236delNY(1)|p.Y236fs*5(1)|p.M237_C238insX(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)		CTGTTACACATGTAGTTGTAG	0.572		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)			41	67					0	0	0.039052	0	0	C	7577572	T	C	7577572	3	2	48	1	0	0	0	0	1	0	0	0	16378	1464	51	3	581	3	TP53	17	7577572	Missense_Mutation	SNP	T	TCGA-DH-5140-01A-01D-1468-08	3537	7577572	73617638	29	1991											
NF1	4763	broad.mit.edu	37	chr17	29556166	29556166	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacatgactggcttccttTgtgcccttgggggagtgtgc	5	13	13	10	0	1	1	1	1	0	0	2	2	2	2	2	3	3	1	2	3	1	3			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr17:29556166T>C	uc002hgg.3	+	20	2916	c.2533T>C	c.(2533-2535)Tgt>Cgt	p.C845R	NF1_uc002hgh.3_Missense_Mutation_p.C845R|NF1_uc010csn.2_Missense_Mutation_p.C705R|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	845					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)|p.C845Y(1)|p.C845_Q853>*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGGCTTCCTTTGTGCCCTTGG	0.512			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			101	12					0	0	0.048971	0	0	C	29556166	T	C	29556166	3	2	48	1	0	0	0	0	1	0	0	0	10356	1812	63	3	2676	3	NF1	17	29556166	Missense_Mutation	SNP	T	TCGA-DH-5140-01A-01D-1468-08	21978594	29556166	51639044	30	1992											
CCDC40	55036	broad.mit.edu	37	chr17	78032380	78032380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatgcgtgacgacatccGcgtgatgacacaagtggtaa	12	7	13	9	4	0	3	0	3	0	0	1	5	1	4	1	2	1	1	1	2	2	1			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr17:78032380G>A	uc010dht.3	+	7	1278	c.1247G>A	c.(1246-1248)cGc>cAc	p.R416H	CCDC40_uc010wub.2_Missense_Mutation_p.R416H|CCDC40_uc021uem.1_Missense_Mutation_p.R416H|CCDC40_uc002jxm.4_Missense_Mutation_p.R199H	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	416					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GACGACATCCGCGTGATGACA	0.537													120	11					0	0	0.048971	0	0	A	78032380	G	A	78032380	3	1	48	1	0	0	0	0	1	0	0	0	2812	1087	38	1	1277	1	CCDC40	17	78032380	Missense_Mutation	SNP	G	TCGA-DH-5140-01A-01D-1468-08	48476214	78032380	3162830	31	1993											
PLIN4	729359	broad.mit.edu	37	chr19	4511095	4511095	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtcactgcatccttagcGccactcagcaccgtcttggc	7	10	9	15	2	3	0	2	0	1	0	4	0	4	0	3	1	3	3	3	1	2	3			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr19:4511095G>A	uc002mar.1	-	2	2835	c.2835C>T	c.(2833-2835)ggC>ggT	p.G945G	PLIN4_uc010dub.1_5'UTR	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	945	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CATCCTTAGCGCCACTCAGCA	0.592													32	82					0	0	0.050027	0	0	A	4511095	G	A	4511095	2	1	48	1	0	0	0	0	0	0	0	1	12092	1074	38	1		1	PLIN4	19	4511095	Silent	SNP	G	TCGA-DH-5140-01A-01D-1468-08		4511095	54617888	32	1994											
NOTCH3	4854	broad.mit.edu	37	chr19	15281250	15281250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagagggtgctgtgctcgCgcttgcgccgggccaccatg	5	7	15	14	4	0	1	0	0	0	1	1	1	0	1	4	2	3	3	4	2	0	1			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr19:15281250C>T	uc002nan.3	-	26	5082	c.5006G>A	c.(5005-5007)cGc>cAc	p.R1669H		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1669					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCTGTGCTCGCGCTTGCGCCG	0.677													44	57					0	0	0.039052	0	0	T	15281250	C	T	15281250	3	4	48	1	0	0	0	0	1	0	0	0	10550	768	27	1	1987	1	NOTCH3	19	15281250	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08	10770155	15281250	43847733	33	1995											
SLC7A9	11136	broad.mit.edu	37	chr19	33350866	33350866	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgataatggccaaaggcaGgtttctgggaggggcaatga	12	8	16	5	0	1	2	0	2	1	0	1	4	1	3	1	6	0	3	1	6	3	2			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr19:33350866G>T	uc002ntv.4	-	7	871	c.754C>A	c.(754-756)Ctg>Atg	p.L252M	SLC7A9_uc002ntt.4_Non-coding_Transcript|SLC7A9_uc002ntu.4_Missense_Mutation_p.L252M|SLC7A9_uc021usa.1_Missense_Mutation_p.L252M|SLC7A9_uc002ntw.4_Missense_Mutation_p.L43M|JA660679_uc021usb.1_5'Flank	NM_001126335	NP_055085	P82251	BAT1_HUMAN	Homo sapiens solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 (SLC7A9), transcript variant 2, mRNA.	252					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GCCAAAGGCAGGTTTCTGGGA	0.602													19	69					2.4624e-09	2.74221e-09	0.049695	1	0	T	33350866	G	T	33350866	3	4	48	1	0	0	0	0	1	0	0	0	14705	991	35	5	733	5	SLC7A9	19	33350866	Missense_Mutation	SNP	G	TCGA-DH-5140-01A-01D-1468-08	18069616	33350866	25778117	34	1996											
RBM11	54033	broad.mit.edu	37	chr21	15599378	15599378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgacctttatcagatgacaGctccacttcctaatagtgca	11	12	6	12	0	1	3	1	2	0	1	3	3	3	3	3	0	2	2	3	0	3	5			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr21:15599378G>A	uc002yjo.4	+	4	652	c.610G>A	c.(610-612)Gct>Act	p.A204T	RBM11_uc002yjn.4_Missense_Mutation_p.A90T|RBM11_uc002yjp.4_Missense_Mutation_p.A90T	NM_144770	NP_658983	P57052	RBM11_HUMAN	Homo sapiens RNA binding motif protein 11 (RBM11), mRNA.	204							RNA binding|nucleotide binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TCAGATGACAGCTCCACTTCC	0.463													99	361					0	0	0.048971	0	0	A	15599378	G	A	15599378	3	1	48	1	0	0	0	0	1	0	0	0	13112	971	34	3	628	3	RBM11	21	15599378	Missense_Mutation	SNP	G	TCGA-DH-5140-01A-01D-1468-08		15599378	32530517	35	1997											
CPXCR1	53336	broad.mit.edu	37	chrX	88009308	88009308	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagacaacattcatgcagctCttctgggaattaaattaaat	16	12	6	7	0	3	1	1	0	2	1	3	2	3	2	0	1	3	2	0	1	7	4			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chrX:88009308C>G	uc022bzq.1	+	0	893	c.893C>G	c.(892-894)tCt>tGt	p.S298C	CPXCR1_uc004efd.4_Missense_Mutation_p.S298C|CPXCR1_uc004efc.4_Missense_Mutation_p.S298C	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN	Homo sapiens CPX chromosome region, candidate 1 (CPXCR1), transcript variant 1, mRNA.	298						intracellular	zinc ion binding	p.S297I(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TCATGCAGCTCTTCTGGGAAT	0.294													4	118					0	0	0.009096	0	0	G	88009308	C	G	88009308	3	3	48	1	0	0	0	0	1	0	0	0	3836	913	32	5	895	5	CPXCR1	23	88009308	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08		88009308	67261252	36	1998											
IGSF1	3547	broad.mit.edu	37	chrX	130416639	130416639	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catccactggtcctcgacacCgtaggctcacattctgaccc	8	9	7	17	2	2	1	1	1	1	0	5	2	4	1	4	2	0	2	4	2	1	2			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chrX:130416639C>G	uc004ewe.4	-	6	1308	c.1025G>C	c.(1024-1026)cGg>cCg	p.R342P	IGSF1_uc004ewd.3_Missense_Mutation_p.R342P|IGSF1_uc022cdv.1_Missense_Mutation_p.R333P|IGSF1_uc004ewf.2_Missense_Mutation_p.R322P	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	342	Ig-like C2-type 4.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCCTCGACACCGTAGGCTCAC	0.498													8	232					0	0	0.047766	0	0	G	130416639	C	G	130416639	3	3	48	1	0	0	0	0	1	0	0	0	7596	652	23	5	3056	5	IGSF1	23	130416639	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08	42407331	130416639	24853921	37	1999											
MIB2	142678	broad.mit.edu	37	chr1	1560729	1560729	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcccttccagcacggggacaAggtcaagtgtctgctggaca	9	7	13	12	1	2	0	1	0	1	0	3	2	3	2	2	4	2	2	2	4	2	1			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr1:1560729A>G	uc001agg.3	+	6	1175	c.1130A>G	c.(1129-1131)aAg>aGg	p.K377R	MIB2_uc001agh.3_Missense_Mutation_p.K363R|MIB2_uc001agi.3_Missense_Mutation_p.K377R|MIB2_uc001agj.3_Missense_Mutation_p.K161R|MIB2_uc001agk.3_Missense_Mutation_p.K312R|MIB2_uc001agl.2_Missense_Mutation_p.K276R|MIB2_uc001agm.3_Missense_Mutation_p.K197R|MIB2_uc010nyq.2_Missense_Mutation_p.K276R|MIB2_uc009vkh.3_Missense_Mutation_p.K161R|MIB2_uc001agn.3_5'UTR	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA.	320					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACGGGGACAAGGTCAAGTGT	0.697													2	6					0	0	1	0	0	G	1560729	A	G	1560729	3	3	49	1	0	0	0	0	1	0	0	0	9567	72	3	4	1156	4	MIB2	1	1560729	Missense_Mutation	SNP	A	TCGA-DH-5141-01A-01D-1468-08		1560729	247689892	1	2000											
GBP5	115362	broad.mit.edu	37	chr1	89728016	89728016	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctctcctgcatcatttgctCgttctgcctttgaatcgccg	4	15	7	15	3	3	1	1	1	2	0	6	1	3	1	4	0	3	3	4	0	1	3			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr1:89728016C>T	uc001dnc.3	-	10	2071	c.1534G>A	c.(1534-1536)Gag>Aag	p.E512K	GBP5_uc001dnd.3_Missense_Mutation_p.E512K	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 1, mRNA.	512						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		ATCATTTGCTCGTTCTGCCTT	0.463													62	78					0	0	1	0	0	T	89728016	C	T	89728016	3	4	49	1	0	0	0	0	1	0	0	0	6277	893	31	2	234	2	GBP5	1	89728016	Missense_Mutation	SNP	C	TCGA-DH-5141-01A-01D-1468-08	88167287	89728016	159522605	2	2001											
PCNXL2	80003	broad.mit.edu	37	chr1	233344354	233344354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggagggtgcctggctttggCccctgtatcaagaagcaaaa	10	8	14	9	0	1	1	1	0	0	1	1	2	1	2	3	4	2	3	3	4	5	2			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr1:233344354C>T	uc001hvl.2	-	12	3008	c.2773G>A	c.(2773-2775)Gcc>Acc	p.A925T	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript|PCNXL2_uc001hvq.1_Missense_Mutation_p.A224T	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	925						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CTGGCTTTGGCCCCTGTATCA	0.423													14	91					0	0	1	0	0	T	233344354	C	T	233344354	3	4	49	1	0	0	0	0	1	0	0	0	11592	739	26	3	3728	3	PCNXL2	1	233344354	Missense_Mutation	SNP	C	TCGA-DH-5141-01A-01D-1468-08	143616338	233344354	15906267	3	2002											
C2orf71	388939	broad.mit.edu	37	chr2	29294007	29294007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcgccgctttgtggtgggtgGgcttagcaccctggggctca	3	11	16	11	2	1	0	1	0	0	0	2	0	1	0	2	5	1	4	2	5	1	2			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr2:29294007G>A	uc002rmt.2	-	0	3121	c.3121C>T	c.(3121-3123)Cca>Tca	p.P1041S		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	1041	Pro-rich.				response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GTGGTGGGTGGGCTTAGCACC	0.687													38	83					0	0	1	0	0	A	29294007	G	A	29294007	3	1	49	1	0	0	0	0	1	0	0	0	2191	1232	43	3	753	3	C2orf71	2	29294007	Missense_Mutation	SNP	G	TCGA-DH-5141-01A-01D-1468-08		29294007	213905366	4	2003											
RIF1	55183	broad.mit.edu	37	chr2	152293371	152293371	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgtacggagccccgggaaCtccccgaatgaacctgagtt	9	6	11	15	4	0	2	0	2	0	0	1	5	1	4	6	2	4	2	6	2	4	2			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr2:152293371C>A	uc002txm.3	+	11	1387	c.1226C>A	c.(1225-1227)aCt>aAt	p.T409N	RIF1_uc010fnv.2_Missense_Mutation_p.T373N|RIF1_uc002txn.3_Missense_Mutation_p.T409N|RIF1_uc002txl.3_Missense_Mutation_p.T409N|RIF1_uc002txo.3_Missense_Mutation_p.T409N|RIF1_uc010zby.1_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	409					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GCCCCGGGAACTCCCCGAATG	0.418													11	114					4.68919e-08	4.83129e-08	1	1	0	A	152293371	C	A	152293371	3	1	49	1	0	0	0	0	1	0	0	0	13359	565	20	5	1268	5	RIF1	2	152293371	Missense_Mutation	SNP	C	TCGA-DH-5141-01A-01D-1468-08	122999364	152293371	90906002	5	2004											
CHRNA1	1134	broad.mit.edu	37	chr2	175614763	175614763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgatggaggcaatgaCgaacaccatggtgaacagca	15	6	13	7	1	0	4	0	4	0	0	0	7	0	5	1	3	3	2	1	3	3	0	rs137852804		TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr2:175614763C>T	uc002ujd.2	-	7	1066	c.988G>A	c.(988-990)Gtc>Atc	p.V330I	BC046497_uc002uiw.3_Intron|CHRNA1_uc002uje.2_Missense_Mutation_p.V305I	NM_001039523	NP_001034612	P02708	ACHA_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 1 (muscle) (CHRNA1), transcript variant 1, mRNA.	330			V -> I (in FCCMS; abnormally slow channel opening and closing resulting in abnormally brief current).		muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						GAGGCAATGACGAACACCATG	0.537													9	139					0	0	1	0	0	T	175614763	C	T	175614763	3	4	49	1	0	0	0	0	1	0	0	0	3381	536	19	1	472	1	CHRNA1	2	175614763	Missense_Mutation	SNP	C	TCGA-DH-5141-01A-01D-1468-08	23321392	175614763	67584610	6	2005											
PLXNB1	5364	broad.mit.edu	37	chr3	48461210	48461210	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacggagcccatggcccctgGgaaagtggtggcaggaacag	10	4	16	11	1	0	0	0	0	0	0	0	3	0	3	3	6	2	1	3	6	2	0			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr3:48461210G>C	uc003csw.2	-	10	2755	c.2485C>G	c.(2485-2487)Cca>Gca	p.P829A	PLXNB1_uc003csu.2_Intron|PLXNB1_uc003csx.2_Missense_Mutation_p.P829A|PLXNB1_uc010hjx.1_Intron	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	829	Pro-rich.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATGGCCCCTGGGAAAGTGGTG	0.701													6	12					0	0	1	0	0	C	48461210	G	C	48461210	3	2	49	1	0	0	0	0	1	0	0	0	12123	1232	43	5	4034	5	PLXNB1	3	48461210	Missense_Mutation	SNP	G	TCGA-DH-5141-01A-01D-1468-08		48461210	149561220	7	2006											
SLC9A9	285195	broad.mit.edu	37	chr3	143100927	143100932	+	In_Frame_Del	DEL	TTCAGA	TTCAGA	-																															gttgtgaggaggggtcctccTtcagattttcatccaggtcc																										TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr3:143100927_143100932delTTCAGA	uc003evn.3	-	12	1703_1708	c.1494_1499delTCTGAA	c.(1492-1500)aatctgaag>aag	p.NL498del		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	498					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GGGGTCCTCCTTCAGATTTTCATCCA	0.442													8	538	---	---	---	---						-	143100932	TTCAGA	-	143100927	7	5	49	1	0	1	0	1	0	0	0	0	14721	1609	56	0	454	0	SLC9A9	3	143100927	In_Frame_Del	DEL	TTCAGA	TCGA-DH-5141-01A-01D-1468-08	94639717	143100927	54921503	8	2007											
NIPBL	25836	broad.mit.edu	37	chr5	37008732	37008732	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattactaaacaggtattctCaagatatgaaaaacataggc	19	10	6	6	0	1	2	1	1	1	1	2	2	1	2	0	2	3	1	0	2	10	6			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr5:37008732C>G	uc003jkl.4	+	19	4827	c.4328C>G	c.(4327-4329)tCa>tGa	p.S1443*	NIPBL_uc003jkk.4_Nonsense_Mutation_p.S1443*	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	1443					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAGGTATTCTCAAGATATGAA	0.274													11	211					0	0	1	0	0	G	37008732	C	G	37008732	4	3	49	1	0	0	0	0	0	1	0	0	10428	838	29	5	4402	5	NIPBL	5	37008732	Nonsense_Mutation	SNP	C	TCGA-DH-5141-01A-01D-1468-08		37008732	143906528	9	2008											
C5orf34	375444	broad.mit.edu	37	chr5	43506030	43506030	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaagacaaaggatatttcCattcctctggacaggcagcc	13	9	8	11	0	1	1	0	0	1	1	3	3	3	3	3	3	1	1	3	3	4	4			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr5:43506030C>T	uc003jnz.2	-	3	1154	c.752G>A	c.(751-753)tGg>tAg	p.W251*	C5orf34_uc011cpx.2_Nonsense_Mutation_p.W137*	NM_198566	NP_940968	Q96MH7	CE034_HUMAN	Homo sapiens chromosome 5 open reading frame 34 (C5orf34), mRNA.	251										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					AGGATATTTCCATTCCTCTGG	0.408													22	243					0	0	1	0	0	T	43506030	C	T	43506030	4	4	49	1	0	0	0	0	0	1	0	0	2293	595	21	3	1204	3	C5orf34	5	43506030	Nonsense_Mutation	SNP	C	TCGA-DH-5141-01A-01D-1468-08	6497298	43506030	137409230	10	2009											
ADRB2	154	broad.mit.edu	37	chr5	148206922	148206922	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatgcactggtaccgggcCacccaccaggaagccatcaa	12	4	10	15	1	1	1	1	0	0	1	1	2	1	2	5	3	3	2	5	3	3	1			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr5:148206922C>T	uc003lpr.2	+	0	767	c.528C>T	c.(526-528)gcC>gcT	p.A176A	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	Homo sapiens adrenergic, beta-2-, receptor, surface (ADRB2), mRNA.	176					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	GGTACCGGGCCACCCACCAGG	0.537													20	275					0	0	1	0	0	T	148206922	C	T	148206922	2	4	49	1	0	0	0	0	0	0	0	1	341	581	21	3		3	ADRB2	5	148206922	Silent	SNP	C	TCGA-DH-5141-01A-01D-1468-08	104700892	148206922	32708338	11	2010											
GRM1	2911	broad.mit.edu	37	chr6	146720659	146720659	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtgtaacagtggctctgggGtgcatgttcactcccaagat	9	11	12	9	0	2	1	1	0	1	1	3	1	3	1	1	3	2	4	1	3	2	2			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr6:146720659G>C	uc010khw.1	+	7	2954	c.2484G>C	c.(2482-2484)ggG>ggC	p.G828G	GRM1_uc010khv.1_Silent_p.G828G|GRM1_uc003qll.2_Silent_p.G828G|GRM1_uc011edz.1_Silent_p.G828G|GRM1_uc011eea.1_Silent_p.G828G	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	828					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TGGCTCTGGGGTGCATGTTCA	0.488													9	116					0	0	1	0	0	C	146720659	G	C	146720659	2	2	49	1	0	0	0	0	0	0	0	1	6796	1248	44	5		5	GRM1	6	146720659	Silent	SNP	G	TCGA-DH-5141-01A-01D-1468-08		146720659	24394408	12	2011											
OSBPL3	26031	broad.mit.edu	37	chr7	24903215	24903215	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaggcatgacagtgcgccAggtctgtgggggaaaagagg	10	6	19	6	1	1	2	0	1	1	1	1	3	1	3	1	6	1	2	1	6	3	1			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr7:24903215A>G	uc003sxf.3	-	7	1082	c.677T>C	c.(676-678)cTg>cCg	p.L226P	OSBPL3_uc003sxd.3_Non-coding_Transcript|OSBPL3_uc003sxe.3_Non-coding_Transcript|OSBPL3_uc003sxg.3_Missense_Mutation_p.L226P|OSBPL3_uc003sxh.3_Missense_Mutation_p.L226P|OSBPL3_uc003sxi.3_Missense_Mutation_p.L226P|OSBPL3_uc003sxj.1_5'UTR|OSBPL3_uc003sxk.1_5'UTR	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	Homo sapiens oxysterol binding protein-like 3 (OSBPL3), transcript variant 1, mRNA.	226					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						ACAGTGCGCCAGGTCTGTGGG	0.532													7	116					0	0	1	0	0	G	24903215	A	G	24903215	3	3	49	1	0	0	0	0	1	0	0	0	11279	188	7	4	2050	4	OSBPL3	7	24903215	Missense_Mutation	SNP	A	TCGA-DH-5141-01A-01D-1468-08		24903215	134235448	13	2012											
RALYL	138046	broad.mit.edu	37	chr8	85774590	85774590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtaattccgctgaagcGtcccagagtggcagtcacaa	11	8	11	11	2	1	2	1	1	0	1	3	2	3	2	2	1	2	4	2	1	3	2			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr8:85774590G>A	uc003yct.4	+	5	646	c.512G>A	c.(511-513)cGt>cAt	p.R171H	RALYL_uc003ycq.4_Missense_Mutation_p.R158H|RALYL_uc003ycr.4_Missense_Mutation_p.R158H|RALYL_uc003ycs.4_Missense_Mutation_p.R158H|RALYL_uc010lzy.3_Missense_Mutation_p.R147H|RALYL_uc003ycu.4_Missense_Mutation_p.R85H	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN	Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.	158							RNA binding|identical protein binding|nucleotide binding	p.G171*(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CCGCTGAAGCGTCCCAGAGTG	0.507													6	43					0	0	1	0	0	A	85774590	G	A	85774590	3	1	49	1	0	0	0	0	1	0	0	0	13020	1145	40	1	534	1	RALYL	8	85774590	Missense_Mutation	SNP	G	TCGA-DH-5141-01A-01D-1468-08		85774590	60589432	14	2013											
DPYS	1807	broad.mit.edu	37	chr8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-																															cctgtgaaacccaccacgccTttttcccatattacggacat																										TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr8:105440214delT	uc003yly.4	-	5	1215	c.1086delA	c.(1084-1086)aaafs	p.K362fs		NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	362					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCACGCCTTTTTCCCATA	0.478													7	513	---	---	---	---						-	105440214	T	-	105440214	7	5	49	1	0	1	0	1	0	0	0	0	4746	1606	56	0	489	0	DPYS	8	105440214	Frame_Shift_Del	DEL	T	TCGA-DH-5141-01A-01D-1468-08	19665624	105440214	40923808	15	2014											
KLF4	9314	broad.mit.edu	37	chr9	110249405	110249405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtggcggtccttttccGgggccacgatcgtcttcccc	2	11	14	14	4	1	0	0	0	1	0	5	1	4	0	5	5	0	0	5	5	0	3			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr9:110249405G>A	uc004bdh.3	-	2	1864	c.1243C>T	c.(1243-1245)Cgg>Tgg	p.R415W	KLF4_uc004bdf.2_Missense_Mutation_p.R340W|KLF4_uc022blk.1_Missense_Mutation_p.R56W|KLF4_uc004bdg.3_Missense_Mutation_p.R390W	NM_004235	NP_004226	O43474	KLF4_HUMAN	Homo sapiens Kruppel-like factor 4 (gut) (KLF4), mRNA.	424	Pro-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GTCCTTTTCCGGGGCCACGAT	0.587													88	161					0	0	1	0	0	A	110249405	G	A	110249405	3	1	49	1	0	0	0	0	1	0	0	0	8348	1115	39	2	279	2	KLF4	9	110249405	Missense_Mutation	SNP	G	TCGA-DH-5141-01A-01D-1468-08		110249405	30964026	16	2015											
NLRP14	338323	broad.mit.edu	37	chr11	7064302	7064302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttttgaagataagaggtggGccatgaaagtattcagttca	13	13	11	4	0	2	4	2	2	0	2	2	4	2	4	1	2	0	2	1	2	4	6			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr11:7064302G>A	uc001mfb.1	+	3	1368	c.1045G>A	c.(1045-1047)Gcc>Acc	p.A349T		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	349	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TAAGAGGTGGGCCATGAAAGT	0.428													26	202					0	0	1	0	0	A	7064302	G	A	7064302	3	1	49	1	0	0	0	0	1	0	0	0	10476	1203	42	3	1055	3	NLRP14	11	7064302	Missense_Mutation	SNP	G	TCGA-DH-5141-01A-01D-1468-08		7064302	127942214	17	2016											
AHNAK	79026	broad.mit.edu	37	chr11	62289982	62289982	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacatctggaacatcaacGtccaccttgggtcctgagac	10	10	8	13	1	3	1	2	1	1	1	5	3	5	2	3	2	2	0	3	2	2	2			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr11:62289982G>A	uc001ntl.3	-	4	12207	c.11907C>T	c.(11905-11907)gaC>gaT	p.D3969D	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	3969					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GAACATCAACGTCCACCTTGG	0.498													45	553					0	0	1	0	0	A	62289982	G	A	62289982	2	1	49	1	0	0	0	0	0	0	0	1	414	1136	40	1		1	AHNAK	11	62289982	Silent	SNP	G	TCGA-DH-5141-01A-01D-1468-08	55225680	62289982	72716534	18	2017											
CATSPER1	117144	broad.mit.edu	37	chr11	65790440	65790440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggttccggatcatttcccGgaagccctgaatgaggaagg	10	8	13	10	2	1	2	1	2	0	0	3	5	3	5	3	5	1	1	3	5	3	2			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr11:65790440G>A	uc001ogt.3	-	1	1447	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	437					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						ATCATTTCCCGGAAGCCCTGA	0.557											OREG0021092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	70	109					0	0	1	0	0	A	65790440	G	A	65790440	3	1	49	1	0	0	0	0	1	0	0	0	2687	1115	39	2	1077	2	CATSPER1	11	65790440	Missense_Mutation	SNP	G	TCGA-DH-5141-01A-01D-1468-08	3500458	65790440	69216076	19	2018											
MYO7A	4647	broad.mit.edu	37	chr11	76922334	76922334	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaagctgctgcgggagctGgtgccccaggaccttatccg	6	7	13	15	2	0	0	0	0	0	0	1	2	1	2	5	3	5	3	5	3	2	1			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr11:76922334G>A	uc001oyb.2	+	44	6461	c.6189G>A	c.(6187-6189)ctG>ctA	p.L2063L	MYO7A_uc001oyc.2_Silent_p.L2025L|MYO7A_uc001oye.2_Non-coding_Transcript	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	2063	FERM 2.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGCGGGAGCTGGTGCCCCAGG	0.652													2	5					0	0	1	0	0	A	76922334	G	A	76922334	2	1	49	1	0	0	0	0	0	0	0	1	10082	1335	47	3		3	MYO7A	11	76922334	Silent	SNP	G	TCGA-DH-5141-01A-01D-1468-08	11131894	76922334	58084182	20	2019											
LGR5	8549	broad.mit.edu	37	chr12	71978453	71978453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagttccgtgccatcacCagcttatccagtgactgaga	9	10	8	14	1	1	2	1	2	0	1	4	3	4	2	5	0	2	2	5	0	1	2			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr12:71978453C>T	uc001swl.3	+	17	2711	c.2663C>T	c.(2662-2664)cCa>cTa	p.P888L	LGR5_uc001swm.3_Missense_Mutation_p.P864L|LGR5_uc021rar.1_Missense_Mutation_p.P816L|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	888						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GTGCCATCACCAGCTTATCCA	0.458													86	177					0	0	1	0	0	T	71978453	C	T	71978453	3	4	49	1	0	0	0	0	1	0	0	0	8757	594	21	3	2733	3	LGR5	12	71978453	Missense_Mutation	SNP	C	TCGA-DH-5141-01A-01D-1468-08		71978453	61873442	21	2020											
NRL	4901	broad.mit.edu	37	chr14	24551825	24551826	+	Frame_Shift_Ins	INS	-	-	G																															agcccccagctgctgctgcaINSgggtagccagccagtacagc																										TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr14:24551825_24551826insG	uc001wlo.3	-	1	363_364	c.232_233insC	c.(232-234)ctgfs	p.L78fs	NRL_uc021rrk.1_5'Flank|NRL_uc001wlp.3_Frame_Shift_Ins_p.L78fs|NRL_uc001wlq.3_Frame_Shift_Ins_p.L78fs	NM_006177	NP_006168	P54845	NRL_HUMAN	Homo sapiens neural retina leucine zipper (NRL), mRNA.	78					response to stimulus|transcription from RNA polymerase II promoter|visual perception	nucleus	leucine zipper domain binding|sequence-specific DNA binding			lung(2)	2				GBM - Glioblastoma multiforme(265;0.0181)		CTGCTGCTGCAGGGTAGCCAGC	0.663													7	53	---	---	---	---						G	24551826	-	G	24551825	7	5	49	1	0	1	1	0	0	0	0	0	10656	188	7	0	488	0	NRL	14	24551825	Frame_Shift_Ins	INS	-	TCGA-DH-5141-01A-01D-1468-08		24551825	82797715	22	2021											
IDH2	3418	broad.mit.edu	37	chr15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcgccatgggcgtgcCtgccaatggtgatgggcttg	4	10	16	11	2	0	1	0	1	0	0	1	1	0	1	4	4	2	1	4	4	1	1	rs121913503		TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr15:90631838C>T	uc002box.3	-	3	601	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_uc010uqb.2_Missense_Mutation_p.R120K|IDH2_uc010uqc.2_Missense_Mutation_p.R42K	NM_002168	NP_002159	P48735	IDHP_HUMAN	Homo sapiens isocitrate dehydrogenase 2 (NADP+), mitochondrial (IDH2), nuclear gene encoding mitochondrial protein, mRNA.	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding	p.R172K(358)|p.R172M(44)|p.R172S(18)|p.R172W(16)|p.R172?(13)|p.R172G(5)|p.G171D(4)|p.R172N(2)|p.R172L(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								51	71					0	0	1	0	0	T	90631838	C	T	90631838	3	4	49	1	0	0	0	0	1	0	0	0	7495	681	24	3	875	3	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-DH-5141-01A-01D-1468-08		90631838	11899554	23	2022											
CTU2	348180	broad.mit.edu	37	chr16	88781785	88781785	+	Splice_Site	DEL	A	A	-																															aaataaaacattttttaattAaaaaaaaaactctacagtac																								rs113700874		TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr16:88781785delA	uc010chz.3	+	15	1936	c.1888_splice	c.e15+1		CTU2_uc002flm.3_Splice_Site|CTU2_uc002fln.3_Splice_Site|CTU2_uc010cia.3_Splice_Site|PIEZO1_uc002flo.4_3'UTR|PIEZO1_uc002flp.4_3'UTR|PIEZO1_uc002flq.4_3'UTR|PIEZO1_uc010cib.3_3'UTR|PIEZO1_uc010vpb.2_3'UTR	NM_001012759	NP_001012777	Q2VPK5	CTU2_HUMAN	Homo sapiens cytosolic thiouridylase subunit 2 homolog (S. pombe) (CTU2), transcript variant 1, mRNA.						tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						ttttttaattaaaaaaaaaaC	0.547													2	4	---	---	---	---						-	88781785	A	-	88781785	8	5	49	1	0	1	0	1	0	0	1	0	4048	377	13	0		0	CTU2	16	88781785	Splice_Site	DEL	A	TCGA-DH-5141-01A-01D-1468-08		88781785	1572968	24	2023											
CHMP1A	5119	broad.mit.edu	37	chr16	89715806	89715806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttggaggccactgcgtctaCgcgggacgccatccgaagcc	7	6	13	15	5	1	0	0	0	1	0	2	3	2	2	4	3	3	0	4	3	2	2			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr16:89715806C>T	uc002fnu.3	-	3	338	c.205G>A	c.(205-207)Gta>Ata	p.V69I	CHMP1A_uc002fnt.3_5'Flank|CHMP1A_uc002fnv.3_Missense_Mutation_p.R62H	NM_002768	NP_002759	Q9HD42	CHM1A_HUMAN	Homo sapiens charged multivesicular body protein 1A (CHMP1A), transcript variant 2, mRNA.	69					cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		ACTGCGTCTACGCGGGACGCC	0.597													67	137					0	0	1	0	0	T	89715806	C	T	89715806	3	4	49	1	0	0	0	0	1	0	0	0	3352	536	19	1	553	1	CHMP1A	16	89715806	Missense_Mutation	SNP	C	TCGA-DH-5141-01A-01D-1468-08	934021	89715806	638947	25	2024											
KRT36	8689	broad.mit.edu	37	chr17	39642800	39642800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taataacaggcttgcatgccGtggcacaaggttggggagga	11	8	15	7	1	0	0	0	0	0	0	0	2	0	2	1	6	3	4	1	6	3	4			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr17:39642800G>A	uc002hwt.3	-	6	1232	c.1232C>T	c.(1231-1233)aCg>aTg	p.T411M		NM_003771	NP_003762	O76013	KRT36_HUMAN	Homo sapiens keratin 36 (KRT36), mRNA.	411	Tail.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CTTGCATGCCGTGGCACAAGG	0.577													4	25					0	0	1	0	0	A	39642800	G	A	39642800	3	1	49	1	0	0	0	0	1	0	0	0	8473	1145	40	1	175	1	KRT36	17	39642800	Missense_Mutation	SNP	G	TCGA-DH-5141-01A-01D-1468-08		39642800	41552410	26	2025											
CDH20	28316	broad.mit.edu	37	chr18	59174700	59174700	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgaaggcatcaatgcagaGatgaaatatactattgtgga	16	10	11	4	0	1	3	1	2	0	1	1	6	1	4	0	2	2	2	0	2	6	4			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr18:59174700G>A	uc010dps.1	+	4	1076	c.924G>A	c.(922-924)gaG>gaA	p.E308E	CDH20_uc002lif.2_Silent_p.E302E	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	308	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TCAATGCAGAGATGAAATATA	0.433													13	133					0	0	1	0	0	A	59174700	G	A	59174700	2	1	49	1	0	0	0	0	0	0	0	1	3106	933	33	3		3	CDH20	18	59174700	Silent	SNP	G	TCGA-DH-5141-01A-01D-1468-08		59174700	18902548	27	2026											
SERPINB3	6317	broad.mit.edu	37	chr18	61323264	61323264	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaaacttgtccattccAtcaatttctcagcagtgagt	10	14	6	11	0	3	1	2	1	2	0	6	1	5	1	2	0	3	2	2	0	2	3			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr18:61323264A>C	uc002lji.3	-	7	944	c.800T>G	c.(799-801)aTg>aGg	p.M267R	SERPINB3_uc002ljg.3_Intron|SERPINB3_uc010dqa.3_Missense_Mutation_p.M215R	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	267					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TGTCCATTCCATCAATTTCTC	0.378													26	115					0	0	1	0	0	C	61323264	A	C	61323264	3	2	49	1	0	0	0	0	1	0	0	0	14102	217	8	5	376	5	SERPINB3	18	61323264	Missense_Mutation	SNP	A	TCGA-DH-5141-01A-01D-1468-08	2148564	61323264	16753984	28	2027											
CIC	23152	broad.mit.edu	37	chr19	42797299	42797300	+	Frame_Shift_Del	DEL	TC	TC	-																															gagagccaactgccccagagTctgagcttgaggggcagccc																										TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr19:42797299_42797300delTC	uc002otf.1	+	14	3701_3702	c.3661_3662delTC	c.(3661-3663)tctfs	p.S1221fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1221	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGCCCCAGAGTCTGAGCTTGAG	0.718			"Mis, F, S"		oligodendroglioma								9	7	---	---	---	---						-	42797300	TC	-	42797299	7	5	49	1	0	1	0	1	0	0	0	0	3424	1667	58	0	3719	0	CIC	19	42797299	Frame_Shift_Del	DEL	TC	TCGA-DH-5141-01A-01D-1468-08		42797299	16331684	29	2028											
PCSK2	5126	broad.mit.edu	37	chr20	17434533	17434533	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggactgccctgtacgaCgagagctgctcttccacctt	7	9	11	14	2	1	1	0	0	1	1	2	4	2	2	3	2	4	4	3	2	1	3			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr20:17434533C>T	uc002wpm.3	+	8	1386	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D	PCSK2_uc002wpl.3_Silent_p.D325D|PCSK2_uc010zrm.2_Silent_p.D309D	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	344	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	p.D344D(2)|p.Y343Y(1)		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)	CCCTGTACGACGAGAGCTGCT	0.597													20	129					0	0	1	0	0	T	17434533	C	T	17434533	2	4	49	1	0	0	0	0	0	0	0	1	11601	535	19	1		1	PCSK2	20	17434533	Silent	SNP	C	TCGA-DH-5141-01A-01D-1468-08		17434533	45590987	30	2029											
PI4KA	5297	broad.mit.edu	37	chr22	21115635	21115635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttatcctcaaagtagcagaaCattacctggaagcgatcagg	14	9	9	9	1	2	1	2	0	0	1	3	3	3	2	2	2	4	2	2	2	6	3			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr22:21115635C>T	uc002zsz.4	-	22	2835	c.2574G>A	c.(2572-2574)atG>atA	p.M858I		NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	858					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AGTAGCAGAACATTACCTGGA	0.368													11	115					0	0	1	0	0	T	21115635	C	T	21115635	3	4	49	1	0	0	0	0	1	0	0	0	11873	478	17	3	3692	3	PI4KA	22	21115635	Missense_Mutation	SNP	C	TCGA-DH-5141-01A-01D-1468-08		21115635	30188931	31	2030											
MAST2	23139	broad.mit.edu	37	chr1	46295226	46295226	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaccagtcccttggacaGtctgcaccttctcttactgc	9	11	7	14	0	2	1	0	0	2	1	4	2	3	2	3	1	4	1	3	1	2	3			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:46295226G>T	uc001cov.3	+	2	724	c.441G>T	c.(439-441)caG>caT	p.Q147H	MAST2_uc001cow.3_Missense_Mutation_p.Q147H	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	147					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CCCTTGGACAGTCTGCACCTT	0.448													3	146					0.00909568	0.0102326	0.009096	1	0	T	46295226	G	T	46295226	3	4	50	1	0	0	0	0	1	0	0	0	9325	1020	36	5	451	5	MAST2	1	46295226	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08		46295226	202955395	1	2031											
C1orf168	199920	broad.mit.edu	37	chr1	57258301	57258301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactggaacagtatggtgtgCgctgcttgtggttggatgag	7	13	16	5	1	0	1	0	1	0	0	0	3	0	3	0	4	4	4	0	4	3	4			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:57258301C>T	uc001cym.4	-	1	591	c.185G>A	c.(184-186)cGc>cAc	p.R62H	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Missense_Mutation_p.R62H	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	62										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GTATGGTGTGCGCTGCTTGTG	0.473													15	322					0	0	0.132662	0	0	T	57258301	C	T	57258301	3	4	50	1	0	0	0	0	1	0	0	0	2012	768	27	1	2077	1	C1orf168	1	57258301	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	10963075	57258301	191992320	2	2032											
KANK4	163782	broad.mit.edu	37	chr1	62739569	62739569	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccctgagtgtctttggCgttctcttggtgaaactgtc	4	15	12	10	1	2	2	0	2	2	0	4	2	2	2	1	3	1	1	1	3	1	3			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:62739569C>T	uc001dah.4	-	2	1584	c.1207G>A	c.(1207-1209)Gcc>Acc	p.A403T	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	403										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GTGTCTTTGGCGTTCTCTTGG	0.517													5	325					0	0	0.021553	0	0	T	62739569	C	T	62739569	3	4	50	1	0	0	0	0	1	0	0	0	7979	768	27	1	1812	1	KANK4	1	62739569	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	5481268	62739569	186511052	3	2033											
AMY2B	280	broad.mit.edu	37	chr1	104115689	104115689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaactttgctttctaggttcGtatttatgtggatgctgtaa	9	18	9	5	1	1	0	0	0	1	0	2	1	1	1	0	2	3	5	0	2	5	8			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:104115689G>A	uc010ouo.2	+	14	2024	c.320G>A	c.(319-321)cGt>cAt	p.R107H	AMY2B_uc001duq.3_Missense_Mutation_p.R107H|AMY2B_uc001dur.3_Missense_Mutation_p.R107H|AMY2B_uc001dus.1_5'Flank	NM_020978	NP_066188	P19961	AMY2B_HUMAN	Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.	107					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TTCTAGGTTCGTATTTATGTG	0.368													146	793					0	0	0.139131	0	0	A	104115689	G	A	104115689	3	1	50	1	0	0	0	0	1	0	0	0	595	1145	40	1	330	1	AMY2B	1	104115689	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08	41376120	104115689	145134932	4	2034											
MUC1	4582	broad.mit.edu	37	chr1	155160204	155160204	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtagcctcaccgctgaCgtctgagatcgtcaggttat	9	10	12	10	3	3	2	2	2	1	1	4	4	3	3	2	2	1	3	2	2	3	2			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:155160204C>T	uc021pap.1	-	5	1174	c.1102G>A	c.(1102-1104)Gtc>Atc	p.V368I	MUC1_uc001fhz.3_Missense_Mutation_p.V64I|MUC1_uc001fhy.3_Missense_Mutation_p.V64I|MUC1_uc010pfb.2_Missense_Mutation_p.V64I|MUC1_uc010pfh.2_Missense_Mutation_p.V210I|MUC1_uc010pff.2_Intron|MUC1_uc010pfi.2_Missense_Mutation_p.V210I|MUC1_uc010pfj.2_Missense_Mutation_p.V234I|MUC1_uc010pfk.2_Non-coding_Transcript|MUC1_uc010pfl.2_Non-coding_Transcript|MUC1_uc010pfc.2_Non-coding_Transcript|MUC1_uc009wph.3_Missense_Mutation_p.V64I|MUC1_uc010pfe.2_Non-coding_Transcript|MUC1_uc009wpi.3_Missense_Mutation_p.V64I|MUC1_uc010pfg.2_Intron|MUC1_uc010pfd.2_Intron|MUC1_uc009wpy.3_Intron|MUC1_uc009wpu.3_Intron|MUC1_uc010pfm.2_Missense_Mutation_p.V64I|MUC1_uc001fiq.3_Missense_Mutation_p.V64I|MUC1_uc009wqa.3_Missense_Mutation_p.V222I|MUC1_uc010pfn.2_Missense_Mutation_p.V139I|MUC1_uc009wpn.3_Missense_Mutation_p.V148I|MUC1_uc010pfo.2_Intron|MUC1_uc009wpw.3_Intron|MUC1_uc001fim.3_Intron|MUC1_uc001fil.3_Intron|MUC1_uc010pfp.2_Intron|MUC1_uc001fij.3_Missense_Mutation_p.V148I|MUC1_uc009wqc.3_Missense_Mutation_p.V136I|MUC1_uc009wqd.3_Missense_Mutation_p.V160I|MUC1_uc001fia.3_Missense_Mutation_p.V139I|MUC1_uc009wqb.3_Missense_Mutation_p.V64I|MUC1_uc009wpx.3_Missense_Mutation_p.V123I|MUC1_uc010pfq.2_Missense_Mutation_p.V136I|MUC1_uc001fid.3_Missense_Mutation_p.V114I|MUC1_uc001fit.3_Missense_Mutation_p.V64I|MUC1_uc009wpz.3_Missense_Mutation_p.V166I|MUC1_uc001fii.3_Intron|MUC1_uc001fik.3_Missense_Mutation_p.V157I|MUC1_uc009wpo.3_Missense_Mutation_p.V101I|MUC1_uc010pfr.2_Intron|MUC1_uc001fih.3_Intron|MUC1_uc001fio.3_Intron|MUC1_uc009wqe.3_Intron|MUC1_uc009wpl.3_Intron|MUC1_uc009wpp.3_Intron|MUC1_uc009wpm.3_Missense_Mutation_p.V157I|MUC1_uc009wpk.3_Missense_Mutation_p.V86I|MUC1_uc010pfs.2_Non-coding_Transcript|MUC1_uc001fip.3_Intron|MUC1_uc021paq.1_Missense_Mutation_p.V359I|MUC1_uc009wqg.3_Missense_Mutation_p.V95I|MUC1_uc009wqf.3_Intron|MUC1_uc001fic.3_Missense_Mutation_p.V113I|MUC1_uc009wps.3_Missense_Mutation_p.V122I|MUC1_uc001fie.3_Intron|MUC1_uc009wpt.3_Missense_Mutation_p.V125I|MUC1_uc009wpq.3_Missense_Mutation_p.V127I|MUC1_uc009wpr.3_Intron|MUC1_uc001fig.3_Intron|MUC1_uc001fif.3_Intron|MUC1_uc001fin.3_Intron|MUC1_uc009wpj.3_Intron|MUC1_uc009wpv.3_Intron|MUC1_uc001fib.3_Intron|MUC1_uc001fis.2_Intron|DM075093_uc021par.1_5'Flank	NM_001204286	NP_001191215	P15941	MUC1_HUMAN	Homo sapiens mucin 1, cell surface associated (MUC1), transcript variant 10, mRNA.	1139	42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCACCGCTGACGTCTGAGATC	0.577			T	IGH@	B-NHL								6	58					0	0	0.038147	0	0	T	155160204	C	T	155160204	3	4	50	1	0	0	0	0	1	0	0	0	9970	536	19	1	368	1	MUC1	1	155160204	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	51044515	155160204	94090417	5	2035											
AIM2	9447	broad.mit.edu	37	chr1	159035847	159035847	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatctaacacacgtgaggcGctatttacctctaagaaacc	13	9	7	12	2	2	2	0	1	2	1	2	2	2	2	2	1	3	2	2	1	5	5	rs148686373		TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:159035847G>A	uc001ftj.1	-	3	914	c.669C>T	c.(667-669)agC>agT	p.S223S		NM_004833	NP_004824	O14862	AIM2_HUMAN	Homo sapiens absent in melanoma 2 (AIM2), mRNA.	223	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					CACGTGAGGCGCTATTTACCT	0.368													32	311					0	0	0.045705	0	0	A	159035847	G	A	159035847	2	1	50	1	0	0	0	0	0	0	0	1	432	1078	38	1		1	AIM2	1	159035847	Silent	SNP	G	TCGA-DH-5142-01A-01D-1468-08	3875643	159035847	90214774	6	2036											
KIAA1614	57710	broad.mit.edu	37	chr1	180904728	180904728	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgtccccaggaccctccaGgagctccaggctgcctgtgg	5	6	12	18	1	0	0	0	0	0	0	3	2	3	2	7	4	2	2	7	4	0	0			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:180904728G>A	uc001gok.2	+	4	1750	c.1683G>A	c.(1681-1683)caG>caA	p.Q561Q	KIAA1614_uc001gol.1_Silent_p.Q182Q|KIAA1614_uc001gom.1_Intron	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	561										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGACCCTCCAGGAGCTCCAGG	0.726													3	32					0	0	0.115264	0	0	A	180904728	G	A	180904728	2	1	50	1	0	0	0	0	0	0	0	1	8248	991	35	3		3	KIAA1614	1	180904728	Silent	SNP	G	TCGA-DH-5142-01A-01D-1468-08	21868881	180904728	68345893	7	2037											
RNASEL	6041	broad.mit.edu	37	chr1	182554707	182554707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaccaagtgactgttctctCggctgctttgcagacaagag	9	11	10	11	1	2	3	1	1	1	2	4	3	2	3	1	1	2	4	1	1	2	2			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:182554707C>T	uc009wxz.2	-	1	1492	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q	RNASEL_uc001gpk.3_Missense_Mutation_p.R412Q|RNASEL_uc009wya.1_Missense_Mutation_p.R412Q	NM_021133	NP_066956	Q05823	RN5A_HUMAN	Homo sapiens ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (RNASEL), mRNA.	412	Protein kinase.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|RNA binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						ACTGTTCTCTCGGCTGCTTTG	0.532													14	175					0	0	0.146539	0	0	T	182554707	C	T	182554707	3	4	50	1	0	0	0	0	1	0	0	0	13416	884	31	2	1014	2	RNASEL	1	182554707	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	1649979	182554707	66695914	8	2038											
FMOD	2331	broad.mit.edu	37	chr1	203316988	203316988	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactggtgatctggttgccGtggagagcaatccagagcag	9	9	14	9	1	2	3	1	1	1	2	3	4	3	3	2	3	3	3	2	3	1	1	rs141206727		TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:203316988G>A	uc001gzr.3	-	1	547	c.411C>T	c.(409-411)caC>caT	p.H137H		NM_002023	NP_002014	Q06828	FMOD_HUMAN	Homo sapiens fibromodulin (FMOD), mRNA.	137					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			TCTGGTTGCCGTGGAGAGCAA	0.557													5	170					0	0	0.021553	0	0	A	203316988	G	A	203316988	2	1	50	1	0	0	0	0	0	0	0	1	5959	1136	40	1		1	FMOD	1	203316988	Silent	SNP	G	TCGA-DH-5142-01A-01D-1468-08	20762281	203316988	45933633	9	2039											
EPRS	2058	broad.mit.edu	37	chr1	220195728	220195728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggatgtggttgaattttgCagcgataaagggttggatct	9	15	14	3	1	1	1	0	1	1	0	1	4	1	3	0	4	2	3	0	4	3	6			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:220195728C>T	uc001hly.1	-	8	1346	c.1076G>A	c.(1075-1077)tGc>tAc	p.C359Y	RNU5F-1_uc021pjd.1_Intron|EPRS_uc010puf.1_Missense_Mutation_p.C110Y|EPRS_uc001hlz.1_Missense_Mutation_p.C359Y|EPRS_uc009xdt.1_Missense_Mutation_p.C160Y	NM_004446	NP_004437	P07814	SYEP_HUMAN	Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	359	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|RNA binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding	p.R358H(2)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TTGAATTTTGCAGCGATAAAG	0.378													7	406					0	0	0.02938	0	0	T	220195728	C	T	220195728	3	4	50	1	0	0	0	0	1	0	0	0	5191	710	25	3	3558	3	EPRS	1	220195728	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	16878740	220195728	29054893	10	2040											
HEATR1	55127	broad.mit.edu	37	chr1	236724539	236724539	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatacctctcttcaaggccTtttaaaatctcaggaccacc	12	11	4	14	0	3	0	2	0	2	0	5	1	3	1	4	2	1	0	4	2	4	4			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:236724539T>C	uc001hyd.2	-	32	4784	c.4632A>G	c.(4630-4632)aaA>aaG	p.K1544K	HEATR1_uc009xgh.2_Silent_p.K706K	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	1544					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTTCAAGGCCTTTTAAAATCT	0.323													3	210					0	0	0.009096	0	0	C	236724539	T	C	236724539	2	2	50	1	0	0	0	0	0	0	0	1	7027	1606	56	4		4	HEATR1	1	236724539	Silent	SNP	T	TCGA-DH-5142-01A-01D-1468-08	16528811	236724539	12526082	11	2041											
NTSR2	23620	broad.mit.edu	37	chr2	11798782	11798782	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagagaagaggagtcacAgctgagctgacgtagaaaag	15	7	14	5	1	1	5	1	2	0	3	1	7	1	6	0	1	2	4	0	1	5	3			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:11798782A>T	uc002rbq.4	-	3	1130	c.1056T>A	c.(1054-1056)gcT>gcA	p.A352A		NM_012344	NP_036476	O95665	NTR2_HUMAN	Homo sapiens neurotensin receptor 2 (NTSR2), mRNA.	352					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	GAGGAGTCACAGCTGAGCTGA	0.532													4	174					0	0	0.014758	0	0	T	11798782	A	T	11798782	2	4	50	1	0	0	0	0	0	0	0	1	10711	175	7	5		5	NTSR2	2	11798782	Silent	SNP	A	TCGA-DH-5142-01A-01D-1468-08		11798782	231400591	12	2042											
SNX17	9784	broad.mit.edu	37	chr2	27599364	27599364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagtcacctgatgccaccCgggagtctatggtcaaactc	10	8	11	12	1	3	1	2	1	1	0	4	3	3	3	3	3	2	0	3	3	2	1			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:27599364C>T	uc002rkg.1	+	13	1498	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W	SNX17_uc010ylj.1_Missense_Mutation_p.R406W|SNX17_uc002rki.1_Non-coding_Transcript|SNX17_uc002rkh.1_Missense_Mutation_p.R212W|SNX17_uc010yll.1_Missense_Mutation_p.R212W|SNX17_uc010ylm.1_Missense_Mutation_p.R212W|SNX17_uc010yln.1_Missense_Mutation_p.R414W|SNX17_uc010ylo.1_Missense_Mutation_p.R344W|SNX17_uc010ylp.1_Missense_Mutation_p.R401W|SNX17_uc010ylk.1_Missense_Mutation_p.R212W|SNX17_uc010eza.1_Missense_Mutation_p.R212W|SNX17_uc010ylq.1_Missense_Mutation_p.R212W	NM_014748	NP_055563	Q15036	SNX17_HUMAN	Homo sapiens sorting nexin 17 (SNX17), mRNA.	426					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	Golgi apparatus|cytoplasmic vesicle membrane|cytosol|early endosome	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATGCCACCCGGGAGTCTAT	0.572													77	258					0	0	0.139131	0	0	T	27599364	C	T	27599364	3	4	50	1	0	0	0	0	1	0	0	0	14888	643	23	2	1330	2	SNX17	2	27599364	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	15800582	27599364	215600009	13	2043											
MGAT4A	11320	broad.mit.edu	37	chr2	99279632	99279632	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcactgtgggaatgcccatGactattgaaactggaaaaaa	15	10	9	7	0	1	2	1	2	0	0	1	4	1	4	1	2	2	0	1	2	6	3			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:99279632G>A	uc002sze.3	-	4	728	c.414C>T	c.(412-414)gtC>gtT	p.V138V	MGAT4A_uc010yvm.2_Silent_p.V10V|MGAT4A_uc010fil.3_5'UTR|MGAT4A_uc010fim.1_Silent_p.V10V	NM_012214	NP_036346	Q9UM21	MGT4A_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A (MGAT4A), transcript variant 1, mRNA.	138					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|extracellular region|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						GAATGCCCATGACTATTGAAA	0.323													6	469					0	0	0.021553	0	0	A	99279632	G	A	99279632	2	1	50	1	0	0	0	0	0	0	0	1	9545	1277	45	3		3	MGAT4A	2	99279632	Silent	SNP	G	TCGA-DH-5142-01A-01D-1468-08	71680268	99279632	143919741	14	2044											
PTPN18	26469	broad.mit.edu	37	chr2	131116491	131116491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacggcgtgtgctccaccGtggccggcagtcggccagag	5	6	16	14	5	0	2	0	1	0	1	2	2	1	2	4	4	1	2	4	4	0	0	rs11892325	byFrequency	TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:131116491G>A	uc002trc.3	+	1	246	c.145G>A	c.(145-147)Gtg>Atg	p.V49M	PTPN18_uc002trb.3_Intron	NM_014369	NP_055184	Q99952	PTN18_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 18 (brain-derived) (PTPN18), transcript variant 1, mRNA.	49	Tyrosine-protein phosphatase.					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					GTGCTCCACCGTGGCCGGCAG	0.627													56	136					0	0	0.139131	0	0	A	131116491	G	A	131116491	3	1	50	1	0	0	0	0	1	0	0	0	12784	1145	40	1	151	1	PTPN18	2	131116491	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08	31836859	131116491	112082882	15	2045											
LRP1B	53353	broad.mit.edu	37	chr2	141528521	141528521	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtccttgtagtttcagatGttggtaaacaaagttgagag	13	13	11	4	0	1	2	1	1	0	2	2	3	2	2	1	1	1	5	1	1	5	6			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:141528521G>T	uc002tvj.1	-	33	6527	c.5555C>A	c.(5554-5556)aCa>aAa	p.T1852K		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1852	EGF-like 4.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTTTCAGATGTTGGTAAACA	0.353										TSP Lung(27;0.18)			13	215					0.00010058	0.000117146	0.09319	1	0	T	141528521	G	T	141528521	3	4	50	1	0	0	0	0	1	0	0	0	8955	1377	48	5	8476	5	LRP1B	2	141528521	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08	10412030	141528521	101670852	16	2046											
NEB	4703	broad.mit.edu	37	chr2	152342397	152342397	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatctccatccttgaaggaCacctcatctgcatcagcagc	10	9	7	15	0	4	1	2	1	2	0	6	2	5	2	3	1	3	3	3	1	1	1			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:152342397C>T	uc021vrb.1	-	147	19916	c.19887G>A	c.(19885-19887)gtG>gtA	p.V6629V	NEB_uc002txr.3_Silent_p.V3002V|NEB_uc002txu.3_Silent_p.V8485V|NEB_uc021vrc.1_Silent_p.V8485V|NEB_uc010fnx.3_Silent_p.V6617V|NEB_uc021vrd.1_Silent_p.V6629V|RIF1_uc002txp.3_Intron|NEB_uc010zbz.2_Silent_p.V398V|NEB_uc002txq.3_Silent_p.V508V|NEB_uc010zca.2_Silent_p.V460V|NEB_uc010zcb.2_Silent_p.V398V	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	6629	SH3.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCTTGAAGGACACCTCATCTG	0.458													67	130					0	0	0.139131	0	0	T	152342397	C	T	152342397	2	4	50	1	0	0	0	0	0	0	0	1	10302	465	17	3		3	NEB	2	152342397	Silent	SNP	C	TCGA-DH-5142-01A-01D-1468-08	10813876	152342397	90856976	17	2047											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								41	66					0	0	0.086207	0	0	T	209113112	C	T	209113112	3	4	50	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	56770715	209113112	34086261	18	2048											
C2orf62	375307	broad.mit.edu	37	chr2	219232561	219232561	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggaggacgtggtcaccttCgccgccgagttcttcggccc	4	8	13	16	6	2	0	1	0	1	0	4	3	2	2	5	4	0	1	5	4	0	3			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:219232561C>T	uc002vhr.3	+	9	1067	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	BC038211_uc002vht.3_5'Flank	NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN	Homo sapiens chromosome 2 open reading frame 62 (C2orf62), mRNA.	346										endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGTCACCTTCGCCGCCGAGT	0.701													6	53					0	0	0.021553	0	0	T	219232561	C	T	219232561	2	4	50	1	0	0	0	0	0	0	0	1	2181	883	31	2		2	C2orf62	2	219232561	Silent	SNP	C	TCGA-DH-5142-01A-01D-1468-08	10119449	219232561	23966812	19	2049											
CCDC158	339965	broad.mit.edu	37	chr4	77244544	77244544	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtttttcctgttgtttctAttggcggagactgtgaatct	6	19	10	6	1	2	2	0	1	2	1	3	3	3	2	1	2	0	3	1	2	2	6			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr4:77244544A>G	uc003hkb.4	-	22	3329	c.3176T>C	c.(3175-3177)aTa>aCa	p.I1059T		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	1059										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TGTTGTTTCTATTGGCGGAGA	0.353													35	343					0	0	0.054565	0	0	G	77244544	A	G	77244544	3	3	50	1	0	0	0	0	1	0	0	0	2790	449	16	3	173	3	CCDC158	4	77244544	Missense_Mutation	SNP	A	TCGA-DH-5142-01A-01D-1468-08		77244544	113909732	20	2050											
CCNG2	901	broad.mit.edu	37	chr4	78081991	78081991	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatccggattagtcagtgtAaatgtactgcttctgacata	11	14	9	7	1	2	2	1	2	1	0	3	3	3	3	1	1	2	3	1	1	5	5			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr4:78081991A>T	uc003hkq.4	+	3	697	c.394A>T	c.(394-396)Aaa>Taa	p.K132*	CCNG2_uc003hkn.4_Nonsense_Mutation_p.K132*|CCNG2_uc011ccc.1_Nonsense_Mutation_p.K132*|CCNG2_uc003hkp.4_Nonsense_Mutation_p.K132*	NM_004354	NP_004345	Q16589	CCNG2_HUMAN	Homo sapiens cyclin G2 (CCNG2), mRNA.	132					cell cycle checkpoint|cell division|mitosis	cytoplasm				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TAGTCAGTGTAAATGTACTGC	0.363													92	148					0	0	0.139131	0	0	T	78081991	A	T	78081991	4	4	50	1	0	0	0	0	0	1	0	0	2924	363	13	5	404	5	CCNG2	4	78081991	Nonsense_Mutation	SNP	A	TCGA-DH-5142-01A-01D-1468-08	837447	78081991	113072285	21	2051											
PDHA2	5161	broad.mit.edu	37	chr4	96761615	96761615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgcgtgggccttgaggccgGcataaacccctcggatcacg	7	8	13	13	4	1	1	1	1	0	0	2	2	1	2	4	4	2	1	4	4	2	3			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr4:96761615G>A	uc003htr.4	+	0	377	c.314G>A	c.(313-315)gGc>gAc	p.G105D		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	105					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			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)	CTTGAGGCCGGCATAAACCCC	0.517													5	228					0	0	0.014758	0	0	A	96761615	G	A	96761615	3	1	50	1	0	0	0	0	1	0	0	0	11665	1203	42	3	316	3	PDHA2	4	96761615	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08	18679624	96761615	94392661	22	2052											
TET2	54790	broad.mit.edu	37	chr4	106156834	106156834	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaccaagcggaatcccatCtaaaacgtaatgaggcatca	15	8	7	11	2	3	1	2	1	1	0	4	2	4	2	2	2	2	2	2	2	5	3			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr4:106156834C>G	uc011cez.2	+	2	2203	c.1798C>G	c.(1798-1800)Cta>Gta	p.L600V	TET2_uc003hxk.3_Missense_Mutation_p.L579V|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.L579V|TET2_uc010ilp.2_Missense_Mutation_p.L579V|TET2_uc021xql.1_Missense_Mutation_p.L579V	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	579	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.M600fs*39(1)|p.Q599fs*1(1)|p.L590_H650del(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GGAATCCCATCTAAAACGTAA	0.453			"Mis N, F"		MDS								5	152					0	0	0.014758	0	0	G	106156834	C	G	106156834	3	3	50	1	0	0	0	0	1	0	0	0	15767	912	32	5	1737	5	TET2	4	106156834	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	9395219	106156834	84997442	23	2053											
ALPK1	80216	broad.mit.edu	37	chr4	113362097	113362097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggtaaccggtaatggaaaagGactcatctacctcacagatc	14	8	9	10	1	3	1	2	0	1	1	4	3	3	3	2	4	2	2	2	4	5	3			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr4:113362097G>A	uc003ian.4	+	14	3790	c.3563G>A	c.(3562-3564)gGa>gAa	p.G1188E	ALPK1_uc003iap.4_Missense_Mutation_p.G1188E|ALPK1_uc011cfx.2_Missense_Mutation_p.G1110E|ALPK1_uc003iao.4_Non-coding_Transcript|ALPK1_uc010imo.3_Missense_Mutation_p.G1016E	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	1188	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AATGGAAAAGGACTCATCTAC	0.363													5	269					0	0	0.014758	0	0	A	113362097	G	A	113362097	3	1	50	1	0	0	0	0	1	0	0	0	544	1174	41	3	3613	3	ALPK1	4	113362097	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08	7205263	113362097	77792179	24	2054											
ZDHHC11	79844	broad.mit.edu	37	chr5	850710	850710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacactggctcccggagcggGtgtccatctgcaggacacag	9	6	13	13	2	1	0	0	0	1	0	3	2	3	2	2	4	3	2	2	4	1	0			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr5:850710G>A	uc011cma.1	-	0	392	c.8C>T	c.(7-9)aCc>aTc	p.T3I		NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	Homo sapiens zinc finger, DHHC-type containing 11 (ZDHHC11), mRNA.	3						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CCCGGAGCGGGTGTCCATCTG	0.617													5	142					0	0	0.014758	0	0	A	850710	G	A	850710	3	1	50	1	0	0	0	0	1	0	0	0	17598	1261	44	3	1278	3	ZDHHC11	5	850710	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08		850710	180064550	25	2055											
MCCC2	64087	broad.mit.edu	37	chr5	70944989	70944989	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggtgccaagatggtggccGctgtggcctgtgcccaagtg	6	9	16	10	1	0	1	0	0	0	1	0	1	0	1	4	4	2	1	4	4	2	0			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr5:70944989G>A	uc003kbs.4	+	13	1420	c.1282G>A	c.(1282-1284)Gct>Act	p.A428T	MCCC2_uc003kbt.4_Non-coding_Transcript	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 2 (beta) (MCCC2), nuclear gene encoding mitochondrial protein, mRNA.	428	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	GATGGTGGCCGCTGTGGCCTG	0.512													5	152					0	0	0.014758	0	0	A	70944989	G	A	70944989	3	1	50	1	0	0	0	0	1	0	0	0	9375	1087	38	1	1336	1	MCCC2	5	70944989	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08	70094279	70944989	109970271	26	2056											
RHAG	6005	broad.mit.edu	37	chr6	49604490	49604490	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaatcatggcaatttcCaggactatagccatgagagg	16	8	9	8	0	1	1	1	1	0	1	2	3	2	2	2	3	2	1	2	3	6	3			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr6:49604490C>A	uc003ozk.4	-	0	98	c.36G>T	c.(34-36)ctG>ctT	p.L12L	RHAG_uc010jzl.3_Silent_p.L12L|RHAG_uc010jzm.3_Silent_p.L12L	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Homo sapiens Rh-associated glycoprotein (RHAG), mRNA.	12					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TGGCAATTTCCAGGACTATAG	0.443													61	140					2.5401e-28	3.18316e-28	0.139131	1	0	A	49604490	C	A	49604490	2	1	50	1	0	0	0	0	0	0	0	1	13315	581	21	5		5	RHAG	6	49604490	Silent	SNP	C	TCGA-DH-5142-01A-01D-1468-08		49604490	121510577	27	2057											
REV3L	5980	broad.mit.edu	37	chr6	111726682	111726682	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attaaccttacttttccttcTtgcttttcggaacttgacag	8	18	5	10	1	1	1	0	1	1	0	3	2	2	2	2	1	4	1	2	1	3	9			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr6:111726682T>G	uc003puy.4	-	3	897	c.556A>C	c.(556-558)Aga>Cga	p.R186R	REV3L_uc003pux.4_Silent_p.R108R|REV3L_uc003puz.4_Silent_p.R108R	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	186					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTTTCCTTCTTGCTTTTCGG	0.299								DNA polymerases (catalytic subunits)					7	203					0	0	0.02938	0	0	G	111726682	T	G	111726682	2	3	50	1	0	0	0	0	0	0	0	1	13240	1617	56	5		5	REV3L	6	111726682	Silent	SNP	T	TCGA-DH-5142-01A-01D-1468-08	62122192	111726682	59388385	28	2058											
BCLAF1	9774	broad.mit.edu	37	chr6	136597607	136597607	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctttatccctggtattaccCctatcaagcaggaatactct	10	14	5	12	0	3	0	1	0	2	0	4	1	4	1	3	2	3	2	3	2	7	6			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr6:136597607C>A	uc003qgx.1	-	4	1309	c.1056G>T	c.(1054-1056)agG>agT	p.R352S	BCLAF1_uc003qgy.1_Missense_Mutation_p.R350S|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.R350S|BCLAF1_uc003qgw.1_Intron	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	352					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGGTATTACCCCTATCAAGCA	0.443													9	523					0.000673444	0.000766333	0.069234	1	0	A	136597607	C	A	136597607	3	1	50	1	0	0	0	0	1	0	0	0	1383	622	22	5	1742	5	BCLAF1	6	136597607	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	24870925	136597607	34517460	29	2059											
DNAH11	8701	broad.mit.edu	37	chr7	21678576	21678576	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctttctctttgtgaaaaaGctctcgctgaatacctggaa	10	13	9	9	1	2	2	0	2	2	0	4	3	2	3	1	2	2	3	1	2	5	3			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:21678576G>T	uc003svc.3	+	27	4883	c.4852G>T	c.(4852-4854)Gct>Tct	p.A1618S		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1618	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTGTGAAAAAGCTCTCGCTGA	0.403									Kartagener syndrome				67	157					9.12251e-31	1.15786e-30	0.139131	1	0	T	21678576	G	T	21678576	3	4	50	1	0	0	0	0	1	0	0	0	4599	971	34	5	4962	5	DNAH11	7	21678576	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08		21678576	137460087	30	2060											
ZNF713	349075	broad.mit.edu	37	chr7	56006946	56006946	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaactgtaatctgaactcAaaccttatgcagcagagaat	17	9	7	8	0	2	2	1	1	1	1	2	4	2	2	1	0	5	3	1	0	7	2			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:56006946A>C	uc003tra.2	+	6	1386	c.579A>C	c.(577-579)tcA>tcC	p.S193S	ZNF713_uc003trc.1_Silent_p.S180S	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	Homo sapiens zinc finger protein 713 (ZNF713), mRNA.	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATCTGAACTCAAACCTTATGC	0.368													32	136					0	0	0.054565	0	0	C	56006946	A	C	56006946	2	2	50	1	0	0	0	0	0	0	0	1	18114	117	5	5		5	ZNF713	7	56006946	Silent	SNP	A	TCGA-DH-5142-01A-01D-1468-08	34328370	56006946	103131717	31	2061											
CACNA2D1	781	broad.mit.edu	37	chr7	81624211	81624211	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagatttaaccagagttctGaatgttttttctccactttc	9	18	6	8	0	2	3	0	2	2	2	4	4	2	3	2	0	1	2	2	0	2	7			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:81624211G>A	uc003uhr.1	-	19	1963	c.1707C>T	c.(1705-1707)ttC>ttT	p.F569F		NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	588						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)	CCAGAGTTCTGAATGTTTTTT	0.299													6	112					0	0	0.021553	0	0	A	81624211	G	A	81624211	2	1	50	1	0	0	0	0	0	0	0	1	2548	1281	45	3		3	CACNA2D1	7	81624211	Silent	SNP	G	TCGA-DH-5142-01A-01D-1468-08	25617265	81624211	77514452	32	2062											
COL1A2	1278	broad.mit.edu	37	chr7	94033881	94033881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacagggcttaatgggacCtagaggcccacctggtgcag	9	9	13	10	0	0	1	0	0	0	1	0	2	0	2	3	4	2	2	3	4	3	4			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:94033881C>T	uc003ung.1	+	6	764	c.293C>T	c.(292-294)cCt>cTt	p.P98L	COL1A2_uc011kib.1_Missense_Mutation_p.P98L|COL1A2_uc022ahm.1_5'Flank|COL1A2_uc010lfh.1_5'Flank	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	98					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TTAATGGGACCTAGAGGCCCA	0.443										HNSCC(75;0.22)			4	163					0	0	0.009096	0	0	T	94033881	C	T	94033881	3	4	50	1	0	0	0	0	1	0	0	0	3678	681	24	3	319	3	COL1A2	7	94033881	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	12409670	94033881	65104782	33	2063											
PEG10	23089	broad.mit.edu	37	chr7	94293346	94293346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatgaagcatgtctttgaaGaccctcagaggcgagaggtt	13	9	12	7	1	2	5	1	2	1	3	2	6	2	5	1	2	1	2	1	2	3	2			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:94293346G>A	uc003uno.3	+	1	957	c.478G>A	c.(478-480)Gac>Aac	p.D160N	PEG10_uc011kie.2_Missense_Mutation_p.D236N|PEG10_uc022ahn.1_Missense_Mutation_p.D160N	NM_015068	NP_055883	Q86TG7	PEG10_HUMAN	Homo sapiens paternally expressed 10 (PEG10), transcript variant 1, mRNA.	160	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TGTCTTTGAAGACCCTCAGAG	0.557													12	353					0	0	0.105934	0	0	A	94293346	G	A	94293346	3	1	50	1	0	0	0	0	1	0	0	0	11719	942	33	3	712	3	PEG10	7	94293346	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08	259465	94293346	64845317	34	2064											
TRIM56	81844	broad.mit.edu	37	chr7	100732260	100732260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgctccccttgcagcgtggCcgccctgcagagcgcggtgg	3	7	15	16	4	0	1	0	0	0	1	1	1	1	1	4	3	5	3	4	3	0	1			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:100732260C>T	uc003uxq.3	+	2	1898	c.1667C>T	c.(1666-1668)gCc>gTc	p.A556V	TRIM56_uc003uxr.3_Intron|TRIM56_uc022aiw.1_Missense_Mutation_p.A556V	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	Homo sapiens tripartite motif containing 56 (TRIM56), mRNA.	556					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding	p.V555L(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					TGCAGCGTGGCCGCCCTGCAG	0.672													5	185					0	0	0.014758	0	0	T	100732260	C	T	100732260	3	4	50	1	0	0	0	0	1	0	0	0	16527	739	26	3	1669	3	TRIM56	7	100732260	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	6438914	100732260	58406403	35	2065											
TRPM6	140803	broad.mit.edu	37	chr9	77435280	77435280	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcttggactgtttaagActaaagttgaaagtgttctg	11	14	12	4	0	1	2	0	1	1	1	1	3	1	3	0	2	1	4	0	2	4	6			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:77435280A>G	uc004ajl.1	-	8	1312	c.1074T>C	c.(1072-1074)agT>agC	p.S358S	TRPM6_uc004ajk.1_Silent_p.S353S|TRPM6_uc022bib.1_Silent_p.S353S|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Silent_p.S358S|TRPM6_uc010mpd.1_Silent_p.S358S|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	358					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ACTGTTTAAGACTAAAGTTGA	0.413													35	108					0	0	0.104719	0	0	G	77435280	A	G	77435280	2	3	50	1	0	0	0	0	0	0	0	1	16587	272	10	3		3	TRPM6	9	77435280	Silent	SNP	A	TCGA-DH-5142-01A-01D-1468-08		77435280	63778151	36	2066											
RMI1	80010	broad.mit.edu	37	chr9	86616940	86616940	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cttttaacagaaatgccgatCgaagtatagagagattttca	15	12	8	6	2	1	3	1	0	0	3	2	6	1	3	1	0	2	1	1	0	5	6			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:86616940C>G	uc022bjb.1	+	0	1039	c.1039C>G	c.(1039-1041)Cga>Gga	p.R347G	RMI1_uc004anq.4_Missense_Mutation_p.R347G|RMI1_uc004anr.4_Missense_Mutation_p.R347G|RMI1_uc004anp.4_Missense_Mutation_p.R347G|RMI1_uc004ans.4_Missense_Mutation_p.R347G	NM_024945	NP_079221	Q9H9A7	RMI1_HUMAN	Homo sapiens RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae) (RMI1), mRNA.	347					DNA replication	nucleus				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						AAATGCCGATCGAAGTATAGA	0.343													16	100					0	0	0.132662	0	0	G	86616940	C	G	86616940	3	3	50	1	0	0	0	0	1	0	0	0	13395	876	31	5	1041	5	RMI1	9	86616940	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	9181660	86616940	54596491	37	2067											
OR13C2	392376	broad.mit.edu	37	chr9	107367614	107367614	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagccgaggaacatctgcaCtgcacagccagaaagggaaa	16	3	11	11	1	1	1	0	0	1	1	1	4	1	3	2	2	5	2	2	2	4	0			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:107367614C>A	uc011lvq.2	-	0	295	c.295G>T	c.(295-297)Gtg>Ttg	p.V99L		NM_001004481	NP_001004481	Q8NGS9	O13C2_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 2 (OR13C2), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AACATCTGCACTGCACAGCCA	0.522													21	232					2.79863e-10	3.42055e-10	0.099896	1	0	A	107367614	C	A	107367614	3	1	50	1	0	0	0	0	1	0	0	0	10934	565	20	5	664	5	OR13C2	9	107367614	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	20750674	107367614	33845817	38	2068											
ZNF618	114991	broad.mit.edu	37	chr9	116811471	116811471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtccgccttctccaaggccgGcatgtgccttcgctgctcag	4	10	11	16	3	2	0	1	0	1	0	5	0	3	0	5	2	2	3	5	2	1	2			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:116811471G>A	uc004bid.3	+	14	1988	c.1889G>A	c.(1888-1890)gGc>gAc	p.G630D	ZNF618_uc004bic.3_Missense_Mutation_p.G537D|ZNF618_uc011lxi.2_Missense_Mutation_p.G597D|ZNF618_uc011lxj.2_Missense_Mutation_p.G598D|ZNF618_uc010mvb.3_Missense_Mutation_p.G220D	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	630					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						TCCAAGGCCGGCATGTGCCTT	0.622													4	223					0	0	0.014758	0	0	A	116811471	G	A	116811471	3	1	50	1	0	0	0	0	1	0	0	0	18039	1203	42	3	1664	3	ZNF618	9	116811471	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08	9443857	116811471	24401960	39	2069											
COL27A1	85301	broad.mit.edu	37	chr9	116931516	116931516	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccccctcagacctgggAaggcagccagggatgtcccc	7	6	12	16	0	1	1	1	0	0	1	3	3	3	3	6	3	1	1	6	3	1	0			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:116931516A>G	uc011lxl.2	+	2	1681	c.1681A>G	c.(1681-1683)Aag>Gag	p.K561E	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc010mvd.2_Missense_Mutation_p.K411E	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	561	Pro-rich.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CAGACCTGGGAAGGCAGCCAG	0.642													9	242					0	0	0.047766	0	0	G	116931516	A	G	116931516	3	3	50	1	0	0	0	0	1	0	0	0	3685	247	9	3	1691	3	COL27A1	9	116931516	Missense_Mutation	SNP	A	TCGA-DH-5142-01A-01D-1468-08	120045	116931516	24281915	40	2070											
SPTAN1	6709	broad.mit.edu	37	chr9	131337005	131337005	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattacttttggagaagatgCgagaaaaaggaatcaaactg	18	9	10	4	1	1	3	1	0	0	3	1	6	1	4	0	2	3	0	0	2	7	3			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:131337005C>T	uc004bvl.4	+	3	557	c.415C>T	c.(415-417)Cga>Tga	p.R139*	SPTAN1_uc011mbg.2_Nonsense_Mutation_p.R139*|SPTAN1_uc011mbh.2_Nonsense_Mutation_p.R151*|SPTAN1_uc004bvm.4_Nonsense_Mutation_p.R139*|SPTAN1_uc004bvn.4_Nonsense_Mutation_p.R139*	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	139					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGAGAAGATGCGAGAAAAAGG	0.468													47	80					0	0	0.139131	0	0	T	131337005	C	T	131337005	4	4	50	1	0	0	0	0	0	1	0	0	15116	760	27	1	425	1	SPTAN1	9	131337005	Nonsense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	14405489	131337005	9876426	41	2071											
CACNA1B	774	broad.mit.edu	37	chr9	140850187	140850187	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagagggtggagaaccgcCgcgccttcctgaagctgcgc	8	5	16	12	4	0	3	0	1	0	2	1	6	1	3	4	2	3	1	4	2	2	1			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:140850187C>T	uc004cog.3	+	7	1253	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	CACNA1B_uc022bqn.1_Missense_Mutation_p.R370C|CACNA1B_uc011mfd.2_5'Flank	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	370					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GGAGAACCGCCGCGCCTTCCT	0.642													10	17					0	0	0.069234	0	0	T	140850187	C	T	140850187	3	4	50	1	0	0	0	0	1	0	0	0	2539	652	23	2	1138	2	CACNA1B	9	140850187	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	9513182	140850187	363244	42	2072											
CUBN	8029	broad.mit.edu	37	chr10	16883005	16883005	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtactgtggaaccacaaaaCgttccagccaagttcgcatt	12	9	9	11	2	0	0	0	0	0	0	2	1	1	1	3	2	4	4	3	2	5	4			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr10:16883005C>T	uc001ioo.3	-	60	9757	c.9705G>A	c.(9703-9705)acG>acA	p.T3235T		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	3235	CUB 24.				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)	AACCACAAAACGTTCCAGCCA	0.363													16	99					0	0	0.146539	0	0	T	16883005	C	T	16883005	2	4	50	1	0	0	0	0	0	0	0	1	4051	523	19	1		1	CUBN	10	16883005	Silent	SNP	C	TCGA-DH-5142-01A-01D-1468-08		16883005	118651742	43	2073											
MYO3A	53904	broad.mit.edu	37	chr10	26243813	26243813	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaactaggatattgacgAagagattgaagcagaatata	18	10	10	3	1	0	5	0	3	0	2	0	8	0	6	0	1	2	1	0	1	8	7			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr10:26243813A>G	uc001isn.2	+	3	539	c.179A>G	c.(178-180)gAa>gGa	p.E60G	MYO3A_uc009xko.1_Missense_Mutation_p.E60G|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.E60G|MYO3A_uc001ism.2_Missense_Mutation_p.E60G	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	60	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GATATTGACGAAGAGATTGAA	0.318													18	260					0	0	0.049695	0	0	G	26243813	A	G	26243813	3	3	50	1	0	0	0	0	1	0	0	0	10076	246	9	3	185	3	MYO3A	10	26243813	Missense_Mutation	SNP	A	TCGA-DH-5142-01A-01D-1468-08	9360808	26243813	109290934	44	2074											
PLCE1	51196	broad.mit.edu	37	chr10	95790842	95790842	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcttctgttctcataccTgtgactcagagaaaagtggt	11	12	9	9	0	3	2	2	1	2	1	4	3	3	2	1	1	2	2	1	1	3	3			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr10:95790842T>C	uc001kjk.3	+	1	673	c.39T>C	c.(37-39)ccT>ccC	p.P13P	PLCE1_uc010qnx.2_Silent_p.P13P	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	13					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTCTCATACCTGTGACTCAGA	0.418													4	197					0	0	0.014758	0	0	C	95790842	T	C	95790842	2	2	50	1	0	0	0	0	0	0	0	1	12034	1567	55	4		4	PLCE1	10	95790842	Silent	SNP	T	TCGA-DH-5142-01A-01D-1468-08	69547029	95790842	39743905	45	2075											
PSD	5662	broad.mit.edu	37	chr10	104173754	104173754	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggttggggaggcagctcaAaggtgaagaaggggctctgg	9	6	21	5	0	2	2	1	1	1	1	2	3	2	3	0	9	1	4	0	9	3	1			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr10:104173754A>C	uc001kvg.1	-	4	1852	c.1325T>G	c.(1324-1326)tTt>tGt	p.F442C	PSD_uc001kvh.1_Missense_Mutation_p.F63C|PSD_uc009xxd.1_Missense_Mutation_p.F442C	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	442	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		AGGCAGCTCAAAGGTGAAGAA	0.652													10	109					0	0	0.069234	0	0	C	104173754	A	C	104173754	3	2	50	1	0	0	0	0	1	0	0	0	12646	14	1	5	1801	5	PSD	10	104173754	Missense_Mutation	SNP	A	TCGA-DH-5142-01A-01D-1468-08	8382912	104173754	31360993	46	2076											
SBF2	81846	broad.mit.edu	37	chr11	9864268	9864268	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatattgccgcccaattgTcattttccctgcccttttgg	7	16	6	12	1	1	0	1	0	0	0	2	0	2	0	4	1	2	0	4	1	4	8			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr11:9864268T>C	uc001mib.2	-	24	3298	c.3160A>G	c.(3160-3162)Aca>Gca	p.T1054A	SBF2_uc001mif.3_Missense_Mutation_p.T810A|U80769_uc001mig.3_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	Homo sapiens SET binding factor 2 (SBF2), mRNA.	1054					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CGCCCAATTGTCATTTTCCCT	0.373													4	111					0	0	0.014758	0	0	C	9864268	T	C	9864268	3	2	50	1	0	0	0	0	1	0	0	0	13859	1667	58	3	2453	3	SBF2	11	9864268	Missense_Mutation	SNP	T	TCGA-DH-5142-01A-01D-1468-08		9864268	125142248	47	2077											
GAS2	2620	broad.mit.edu	37	chr11	22747932	22747932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatttcttatcctggtgccGagatttaggggtggatgaaa	11	13	12	5	1	1	2	0	1	1	1	2	4	2	3	2	4	1	0	2	4	4	4			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr11:22747932G>A	uc009yie.3	+	3	668	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	GAS2_uc001mqm.3_Missense_Mutation_p.R121Q|GAS2_uc001mqn.3_Non-coding_Transcript|GAS2_uc001mqo.3_Missense_Mutation_p.R121Q	NM_001143830	NP_808221	O43903	GAS2_HUMAN	Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 3, mRNA.	121	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TCCTGGTGCCGAGATTTAGGG	0.398													15	138					0	0	0.11911	0	0	A	22747932	G	A	22747932	3	1	50	1	0	0	0	0	1	0	0	0	6245	1058	37	2	372	2	GAS2	11	22747932	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08	12883664	22747932	112258584	48	2078											
OR1S1	219959	broad.mit.edu	37	chr11	57982589	57982589	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtttgtcgtcattgacAatttgctcttggggaccatg	6	17	11	7	1	2	1	1	1	1	0	3	2	2	2	1	2	1	2	1	2	1	5			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr11:57982589A>T	uc010rkc.2	+	0	373	c.373A>T	c.(373-375)Aat>Tat	p.N125Y		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				CGTCATTGACAATTTGCTCTT	0.453													171	246					0	0	0.139131	0	0	T	57982589	A	T	57982589	3	4	50	1	0	0	0	0	1	0	0	0	10972	130	5	5	375	5	OR1S1	11	57982589	Missense_Mutation	SNP	A	TCGA-DH-5142-01A-01D-1468-08	35234657	57982589	77023927	49	2079											
C11orf75	56935	broad.mit.edu	37	chr11	93212240	93212240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgatcaagagcacgaccacgGccagcgtgggcagcaccact	11	3	12	15	4	1	1	1	0	0	1	1	3	1	1	3	2	3	3	3	2	1	0			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr11:93212240G>A	uc021qos.1	-	0	116	c.116C>T	c.(115-117)gCc>gTc	p.A39V	C11orf75_uc001pds.4_Missense_Mutation_p.A39V	NM_020179	NP_064564	Q9NRQ5	CK075_HUMAN	Homo sapiens chromosome 11 open reading frame 75 (C11orf75), mRNA.	39						integral to membrane				endometrium(1)|skin(1)	2		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CACGACCACGGCCAGCGTGGG	0.652													10	92					0	0	0.069234	0	0	A	93212240	G	A	93212240	3	1	50	1	0	0	0	0	1	0	0	0	1663	1203	42	3	67	3	C11orf75	11	93212240	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08	35229651	93212240	41794276	50	2080											
OAF	220323	broad.mit.edu	37	chr11	120097624	120097624	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccagggggccctgctgagcCcccatctccacaacgtgtgt	6	7	12	16	1	1	1	0	1	1	0	2	1	1	1	5	2	3	1	5	2	1	0			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr11:120097624C>G	uc001pxb.3	+	2	707	c.466C>G	c.(466-468)Ccc>Gcc	p.P156A		NM_178507	NP_848602	Q86UD1	OAF_HUMAN	Homo sapiens OAF homolog (Drosophila) (OAF), mRNA.	156										kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		CCTGCTGAGCCCCCATCTCCA	0.642													54	75					0	0	0.139131	0	0	G	120097624	C	G	120097624	3	3	50	1	0	0	0	0	1	0	0	0	10798	623	22	5	476	5	OAF	11	120097624	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	26885384	120097624	14908892	51	2081											
CDKN1B	1027	broad.mit.edu	37	chr12	12871757	12871757	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaaaatttcccctgcgcttAgattcttctactcaaaacaa	14	13	3	11	1	3	1	1	0	2	1	4	1	4	1	2	0	3	1	2	0	8	6			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr12:12871757A>C	uc001rat.2	+	2	948	c.476_splice	c.e2-2	p.D159_splice		NM_004064	NP_004055	P46527	CDN1B_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 1B (p27, Kip1) (CDKN1B), mRNA.	159					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|S phase of mitotic cell cycle|autophagic cell death|cell cycle arrest|cellular response to lithium ion|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		CCCTGCGCTTAGATTCTTCTA	0.433													6	295					0	0	0.02938	0	0	C	12871757	A	C	12871757	5	2	50	1	0	0	0	0	0	0	1	0	3159	434	15	5	480	5	CDKN1B	12	12871757	Splice_Site	SNP	A	TCGA-DH-5142-01A-01D-1468-08		12871757	120980138	52	2082											
ADAMTS20	80070	broad.mit.edu	37	chr12	43925953	43925953	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcccatctgccttcattaTaggttctaagaaatattcac	12	15	4	10	0	4	1	2	0	2	1	5	1	5	1	2	1	1	1	2	1	5	8			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr12:43925953T>C	uc010skx.2	-	2	499	c.499A>G	c.(499-501)Ata>Gta	p.I167V		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	167						proteinaceous extracellular matrix	zinc ion binding	p.P166R(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GCCTTCATTATAGGTTCTAAG	0.343													12	147					0	0	0.09319	0	0	C	43925953	T	C	43925953	3	2	50	1	0	0	0	0	1	0	0	0	266	1406	49	3	5380	3	ADAMTS20	12	43925953	Missense_Mutation	SNP	T	TCGA-DH-5142-01A-01D-1468-08	31054196	43925953	89925942	53	2083											
PTPRR	5801	broad.mit.edu	37	chr12	71286466	71286466	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatactacttaccaccacaAttacatttgctgctgggatt	12	13	5	11	0	0	0	0	0	0	0	0	1	0	1	2	1	6	2	2	1	5	6			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr12:71286466A>G	uc001swi.2	-	1	764	c.350T>C	c.(349-351)aTt>aCt	p.I117T		NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	117					in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TACCACCACAATTACATTTGC	0.413													4	246					0	0	0.009096	0	0	G	71286466	A	G	71286466	3	3	50	1	0	0	0	0	1	0	0	0	12810	101	4	3	1675	3	PTPRR	12	71286466	Missense_Mutation	SNP	A	TCGA-DH-5142-01A-01D-1468-08	27360513	71286466	62565429	54	2084											
C12orf65	91574	broad.mit.edu	37	chr12	123741402	123741402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcagaacagaaagctagctCggaaaatcctacaagagaaa	20	5	8	8	1	1	3	1	0	0	3	3	5	2	4	1	1	4	2	1	1	8	2			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr12:123741402C>T	uc001uen.3	+	2	588	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	C12orf65_uc001ueo.3_Non-coding_Transcript|C12orf65_uc021rft.1_Missense_Mutation_p.R109W|C12orf65_uc010tan.2_Missense_Mutation_p.R109W	NM_152269	NP_689482	Q9H3J6	CL065_HUMAN	Homo sapiens chromosome 12 open reading frame 65 (C12orf65), transcript variant 1, mRNA.	109						mitochondrion	translation release factor activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000595)|Epithelial(86;0.00199)		AAAGCTAGCTCGGAAAATCCT	0.368													6	100					0	0	0.021553	0	0	T	123741402	C	T	123741402	3	4	50	1	0	0	0	0	1	0	0	0	1708	875	31	2	331	2	C12orf65	12	123741402	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	52454936	123741402	10110493	55	2085											
SLC8A3	6547	broad.mit.edu	37	chr14	70633381	70633382	+	Frame_Shift_Ins	INS	-	-	C																															tcatcattcttgaattccaaINSctccccatatgtgtcttcaa																										TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr14:70633381_70633382insC	uc001xly.3	-	1	2512_2513	c.1758_1759insG	c.(1756-1761)gagttgfs	p.E586fs	SLC8A3_uc001xlw.3_Frame_Shift_Ins_p.E586fs|SLC8A3_uc001xlx.3_Frame_Shift_Ins_p.E586fs|SLC8A3_uc001xlz.3_Frame_Shift_Ins_p.E586fs|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	586	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TTGAATTCCAACTCCCCATATG	0.505													14	120	---	---	---	---						C	70633382	-	C	70633381	7	5	50	1	0	1	1	0	0	0	0	0	14708	40	2	0	1163	0	SLC8A3	14	70633381	Frame_Shift_Ins	INS	-	TCGA-DH-5142-01A-01D-1468-08		70633381	36716159	56	2086											
TP53	7157	broad.mit.edu	37	chr17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttccactcggataagaTgctgaggaggggccagacct	9	9	12	11	1	0	3	0	1	0	2	3	5	2	5	4	4	1	1	4	4	1	3			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr17:7578271T>C	uc002gim.2	-	5	772	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_uc002gig.1_Missense_Mutation_p.H193R|TP53_uc002gih.3_Missense_Mutation_p.H193R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H61R|TP53_uc010cnf.1_Missense_Mutation_p.H61R|TP53_uc002gii.1_Missense_Mutation_p.H61R|TP53_uc010cni.1_Missense_Mutation_p.H193R|TP53_uc010cnh.1_Missense_Mutation_p.H193R|TP53_uc002gij.2_Missense_Mutation_p.H193R|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H100R|TP53_uc002gio.2_Missense_Mutation_p.H61R|TP53_uc010vug.2_Missense_Mutation_p.H154R	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H193R(152)|p.H193L(77)|p.Q192*(71)|p.H193P(32)|p.H193Y(27)|p.H193D(9)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.H193fs*16(6)|p.?(6)|p.Q192R(5)|p.P191_E198>Q(4)|p.H193N(4)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.Q192H(3)|p.H193_I195delHLI(2)|p.P191fs*53(2)|p.H193H(2)|p.Q192Q(2)|p.Q192K(2)|p.H61P(2)|p.H100P(2)|p.H193_I195>AP(2)|p.A189fs*53(1)|p.K164_P219del(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192>XXXXXXXXX(1)|p.P98_E105>Q(1)|p.Q192del(1)|p.Q192fs*56(1)|p.Q192fs*16(1)|p.Q192fs*30(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)		TCGGATAAGATGCTGAGGAGG	0.562		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)			74	12					0	0	0.139131	0	0	C	7578271	T	C	7578271	3	2	50	1	0	0	0	0	1	0	0	0	16378	1464	51	3	716	3	TP53	17	7578271	Missense_Mutation	SNP	T	TCGA-DH-5142-01A-01D-1468-08		7578271	73616939	57	2087											
MYH8	4626	broad.mit.edu	37	chr17	10309482	10309482	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaagacccagaagtccagCtttgaagaaaacctggagaa	17	5	10	9	0	0	6	0	1	0	5	1	7	1	6	3	1	2	1	3	1	6	1			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr17:10309482C>G	uc002gmm.2	-	20	2403	c.2308G>C	c.(2308-2310)Gct>Cct	p.A770P	AK097500_uc002gml.1_Non-coding_Transcript	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	770	Actin-binding.|Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGAAGTCCAGCTTTGAAGAAA	0.403									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				48	77					0	0	0.139131	0	0	G	10309482	C	G	10309482	3	3	50	1	0	0	0	0	1	0	0	0	10041	797	28	5	3585	5	MYH8	17	10309482	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	2731211	10309482	70885728	58	2088											
UNC45B	146862	broad.mit.edu	37	chr17	33482401	33482401	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagatgtctctggctgtctgCaacctgctccaagccatcat	8	11	9	13	0	3	1	1	0	2	1	5	2	4	1	3	1	4	3	3	1	2	0			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr17:33482401C>T	uc002hja.3	+	6	823	c.726C>T	c.(724-726)tgC>tgT	p.C242C	UNC45B_uc002hjb.3_Silent_p.C242C|UNC45B_uc002hjc.3_Silent_p.C242C|UNC45B_uc010cto.3_Silent_p.C242C	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	242					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGGCTGTCTGCAACCTGCTCC	0.552													23	200					0	0	0.076483	0	0	T	33482401	C	T	33482401	2	4	50	1	0	0	0	0	0	0	0	1	16986	718	25	3		3	UNC45B	17	33482401	Silent	SNP	C	TCGA-DH-5142-01A-01D-1468-08	23172919	33482401	47712809	59	2089											
GAS2L2	246176	broad.mit.edu	37	chr17	34072135	34072135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggccagtggcctggggattCgtgaaggctgcttctcaggc	6	9	16	10	1	1	1	1	1	1	0	3	2	1	2	2	6	1	2	2	6	1	2			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr17:34072135C>T	uc002hjv.2	-	5	2409	c.2381G>A	c.(2380-2382)cGa>cAa	p.R794Q		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	794					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTGGGGATTCGTGAAGGCTG	0.632													16	261					0	0	0.038395	0	0	T	34072135	C	T	34072135	3	4	50	1	0	0	0	0	1	0	0	0	6247	884	31	2	265	2	GAS2L2	17	34072135	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	589734	34072135	47123075	60	2090											
ZNF99	7652	broad.mit.edu	37	chr19	22941101	22941101	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccacattcttcacatttgTagggtttctttccagtatga	8	17	7	9	0	3	1	1	1	2	0	4	1	4	1	2	1	1	3	2	1	2	7			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr19:22941101T>C	uc021urt.1	-	3	1765	c.1610A>G	c.(1609-1611)tAc>tGc	p.Y537C		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTCACATTTGTAGGGTTTCTT	0.343													5	275					0	0	0.02938	0	0	C	22941101	T	C	22941101	3	2	50	1	0	0	0	0	1	0	0	0	18201	1638	57	3	1787	3	ZNF99	19	22941101	Missense_Mutation	SNP	T	TCGA-DH-5142-01A-01D-1468-08		22941101	36187882	61	2091											
KCNC3	3748	broad.mit.edu	37	chr19	50826645	50826645	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacccccgccagggcacacAgcgccccgaccagcatcccc	8	1	9	23	3	0	0	0	0	0	0	1	1	1	0	8	1	2	3	8	1	0	0			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr19:50826645A>G	uc002pru.1	-	1	1860	c.1565T>C	c.(1564-1566)cTg>cCg	p.L522P	KCNC3_uc002prt.1_Missense_Mutation_p.L158P	NM_004977	NP_004968	Q14003	KCNC3_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 3 (KCNC3), mRNA.	522					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		CAGGGCACACAGCGCCCCGAC	0.602													3	74					0	0	0.115264	0	0	G	50826645	A	G	50826645	3	3	50	1	0	0	0	0	1	0	0	0	8016	188	7	4	720	4	KCNC3	19	50826645	Missense_Mutation	SNP	A	TCGA-DH-5142-01A-01D-1468-08	27885544	50826645	8302338	62	2092											
SIRPD	128646	broad.mit.edu	37	chr20	1517834	1517834	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagccggaggcagcagcaggGttggacgaaatagtttgtgc	10	7	16	8	2	0	0	0	0	0	0	0	3	0	2	1	4	4	5	1	4	2	3			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr20:1517834G>T	uc002wfi.3	-	2	588	c.544C>A	c.(544-546)Ccc>Acc	p.P182T		NM_178460	NP_848555	Q9H106	SIRPD_HUMAN	Homo sapiens signal-regulatory protein delta (SIRPD), mRNA.	182						extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						CAGCAGCAGGGTTGGACGAAA	0.607													43	139					3.77016e-25	4.66557e-25	0.131918	1	0	T	1517834	G	T	1517834	3	4	50	1	0	0	0	0	1	0	0	0	14335	1261	44	5	57	5	SIRPD	20	1517834	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08		1517834	61507686	63	2093											
DNMT3B	1789	broad.mit.edu	37	chr20	31372610	31372610	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agatggggatggctctgacaCcccagtcatgccaaagctct	10	8	11	12	0	3	2	1	1	2	1	3	3	3	3	3	3	2	2	3	3	1	0	rs138276579		TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr20:31372610C>G	uc002wyc.3	+	3	572	c.251C>G	c.(250-252)aCc>aGc	p.T84S	DNMT3B_uc010ztx.1_Non-coding_Transcript|DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.3_Missense_Mutation_p.T84S|DNMT3B_uc002wye.3_Missense_Mutation_p.T84S|DNMT3B_uc010ztz.2_Missense_Mutation_p.T84S|DNMT3B_uc010zua.2_Intron|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Missense_Mutation_p.T96S	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	84	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGCTCTGACACCCCAGTCATG	0.527													3	143					0	0	0.115264	0	0	G	31372610	C	G	31372610	3	3	50	1	0	0	0	0	1	0	0	0	4677	507	18	5	301	5	DNMT3B	20	31372610	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	29854776	31372610	31652910	64	2094											
RTDR1	27156	broad.mit.edu	37	chr22	23401832	23401832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcattcaggcgcgctatggtCatgggggagtgcagcagctc	7	8	16	10	2	2	0	2	0	0	0	3	1	2	1	0	4	3	5	0	4	1	2			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr22:23401832C>T	uc002zwt.3	-	6	1013	c.855G>A	c.(853-855)atG>atA	p.M285I		NM_014433	NP_055248	Q9UHP6	RTDR1_HUMAN	Homo sapiens rhabdoid tumor deletion region gene 1 (RTDR1), mRNA.	285							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		GCGCTATGGTCATGGGGGAGT	0.657													59	190					0	0	0.139131	0	0	T	23401832	C	T	23401832	3	4	50	1	0	0	0	0	1	0	0	0	13719	826	29	3	195	3	RTDR1	22	23401832	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08		23401832	27902734	65	2095											
ATRX	546	broad.mit.edu	37	chrX	76890086	76890086	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catattcttcagctcttaccTgtaaagtcttaccaaggccc	10	13	5	13	0	4	0	1	0	3	0	4	0	4	0	3	1	3	2	3	1	6	6			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chrX:76890086T>C	uc004ecp.4	-	17	5041	c.4809_splice	c.e17+1	p.Q1603_splice	ATRX_uc004ecq.4_Splice_Site_p.Q1565_splice|ATRX_uc004eco.4_Splice_Site_p.Q1388_splice	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1603	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AGCTCTTACCTGTAAAGTCTT	0.393			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						82	23					0	0	0.139131	0	0	C	76890086	T	C	76890086	5	2	50	1	0	0	0	0	0	0	1	0	1208	1594	55	4	2746	4	ATRX	23	76890086	Splice_Site	SNP	T	TCGA-DH-5142-01A-01D-1468-08		76890086	78380474	66	2096											
VSIG1	340547	broad.mit.edu	37	chrX	107310285	107310285	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catatgcagccagcagacagTggaatttacatctgcgatgt	12	10	10	9	1	1	1	0	0	1	1	1	3	1	2	1	1	5	2	1	1	3	3			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chrX:107310285T>C	uc011msk.2	+	3	602	c.441T>C	c.(439-441)agT>agC	p.S147S	VSIG1_uc004eno.3_Silent_p.S111S	NM_001170553	NP_001164024	Q86XK7	VSIG1_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 1 (VSIG1), transcript variant 1, mRNA.	111	Ig-like C2-type 2.		V -> I (in dbSNP:rs17254305).			integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						CAGCAGACAGTGGAATTTACA	0.463													4	166					0	0	0.009096	0	0	C	107310285	T	C	107310285	2	2	50	1	0	0	0	0	0	0	0	1	17219	1693	59	3		3	VSIG1	23	107310285	Silent	SNP	T	TCGA-DH-5142-01A-01D-1468-08	30420199	107310285	47960275	67	2097											
CCDC28B	79140	broad.mit.edu	37	chr1	32670247	32670248	+	Frame_Shift_Del	DEL	TG	TG	-																															ctttccaaggaacccgtctaTgtgtgtgtgttcctgagagg																										TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:32670247_32670248delTG	uc021okt.1	+	4	706_707	c.574_575delTG	c.(574-576)tgtfs	p.C192fs	CCDC28B_uc001bul.1_Intron|IQCC_uc001bum.2_5'Flank|IQCC_uc009vua.2_5'Flank|IQCC_uc010ogz.1_5'Flank	NM_024296	NP_077272	Q9BUN5	CC28B_HUMAN	Homo sapiens coiled-coil domain containing 28B (CCDC28B), mRNA.	0								p.A192V(1)		large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.5													9	533	---	---	---	---						-	32670248	TG	-	32670247	7	5	51	1	0	1	0	1	0	0	0	0	2803	1479	51	0		0	CCDC28B	1	32670247	Frame_Shift_Del	DEL	TG	TCGA-DH-5143-01A-01D-1468-08		32670247	216580374	1	2098											
SPAG17	200162	broad.mit.edu	37	chr1	118523986	118523986	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttggaagactaggcacacTtgaggatttctgttctgaaa	11	14	10	6	0	2	3	0	2	2	1	2	5	2	5	0	3	0	2	0	3	3	6			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:118523986T>C	uc001ehk.2	-	42	5979	c.5911A>G	c.(5911-5913)Agt>Ggt	p.S1971G	SPAG17_uc021osr.1_Missense_Mutation_p.S481G	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1971						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTAGGCACACTTGAGGATTTC	0.343													30	179					0	0	1	0	0	C	118523986	T	C	118523986	3	2	51	1	0	0	0	0	1	0	0	0	14979	1609	56	4	784	4	SPAG17	1	118523986	Missense_Mutation	SNP	T	TCGA-DH-5143-01A-01D-1468-08	85853739	118523986	130726635	2	2099											
TBX15	6913	broad.mit.edu	37	chr1	119428085	119428085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataaaagatgagaagaagccGaaggggatggtgtcccagtg	15	6	15	5	1	0	3	0	1	0	3	1	6	1	4	2	3	1	0	2	3	5	1			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:119428085G>A	uc001ehl.1	-	7	1076	c.761C>T	c.(760-762)tCg>tTg	p.S254L	TBX15_uc009whj.1_Missense_Mutation_p.S78L	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	360						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		AGAAGAAGCCGAAGGGGATGG	0.478													4	30					0	0	1	0	0	A	119428085	G	A	119428085	3	1	51	1	0	0	0	0	1	0	0	0	15649	1059	37	2	733	2	TBX15	1	119428085	Missense_Mutation	SNP	G	TCGA-DH-5143-01A-01D-1468-08	904099	119428085	129822536	3	2100											
F5	2153	broad.mit.edu	37	chr1	169529938	169529938	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactccattcataggtgtatTctcggcctggagccacagcg	8	11	10	12	2	2	0	1	0	1	0	4	1	3	1	3	3	3	1	3	3	3	5			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:169529938T>C	uc001ggg.1	-	3	585	c.440A>G	c.(439-441)gAa>gGa	p.E147G	F5_uc010plr.1_Non-coding_Transcript	NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	147	F5/8 type A 1.|Plastocyanin-like 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.E147K(1)|p.R146Q(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	ATAGGTGTATTCTCGGCCTGG	0.517													43	276					0	0	1	0	0	C	169529938	T	C	169529938	3	2	51	1	0	0	0	0	1	0	0	0	5348	1783	62	3	6322	3	F5	1	169529938	Missense_Mutation	SNP	T	TCGA-DH-5143-01A-01D-1468-08	50101853	169529938	79720683	4	2101											
FAM5B	57795	broad.mit.edu	37	chr1	177226474	177226474	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatcgacagagagagcaCgctgcgacggctgcaccata	11	6	11	13	4	1	2	1	0	0	2	2	5	1	2	1	1	3	4	1	1	1	2			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:177226474C>A	uc001glf.3	+	3	935	c.623C>A	c.(622-624)aCg>aAg	p.T208K	FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.3_Missense_Mutation_p.T103K	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	208						extracellular region		p.T208T(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						AGAGAGAGCACGCTGCGACGG	0.607													3	65					0.00909568	0.0105049	1	1	0	A	177226474	C	A	177226474	3	1	51	1	0	0	0	0	1	0	0	0	5593	536	19	5	633	5	FAM5B	1	177226474	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08	7696536	177226474	72024147	5	2102											
BPNT1	10380	broad.mit.edu	37	chr1	220240686	220240686	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaataactcctgctatggcTtttccttcataagcaattcc	10	16	4	11	0	1	0	1	0	0	0	4	0	4	0	3	1	3	3	3	1	5	8			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:220240686T>C	uc001hma.3	-	5	604	c.432A>G	c.(430-432)aaA>aaG	p.K144K	RNU5F-1_uc021pjd.1_Intron|BPNT1_uc010pug.2_Silent_p.K89K|BPNT1_uc010puh.2_Silent_p.K108K	NM_006085	NP_006076	O95861	BPNT1_HUMAN	Homo sapiens 3'(2'), 5'-bisphosphate nucleotidase 1 (BPNT1), mRNA.	144					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		CTGCTATGGCTTTTCCTTCAT	0.289													3	112					0	0	1	0	0	C	220240686	T	C	220240686	2	2	51	1	0	0	0	0	0	0	0	1	1494	1606	56	4		4	BPNT1	1	220240686	Silent	SNP	T	TCGA-DH-5143-01A-01D-1468-08	43014212	220240686	29009935	6	2103											
PCNXL2	80003	broad.mit.edu	37	chr1	233150467	233150467	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcctccccagggtgcacagGgcgaaggacagagtcaccaa	11	4	12	14	1	1	1	1	0	0	1	3	3	3	2	4	3	1	1	4	3	2	0			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:233150467G>C	uc001hvl.2	-	27	5131	c.4896C>G	c.(4894-4896)gcC>gcG	p.A1632A	PCNXL2_uc001hvk.1_Silent_p.A284A|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1632						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GGGTGCACAGGGCGAAGGACA	0.537													5	169					0	0	1	0	0	C	233150467	G	C	233150467	2	2	51	1	0	0	0	0	0	0	0	1	11592	1219	43	5		5	PCNXL2	1	233150467	Silent	SNP	G	TCGA-DH-5143-01A-01D-1468-08	12909781	233150467	16100154	7	2104											
DUSP11	8446	broad.mit.edu	37	chr2	74002107	74002107	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagttcttcattttgttctCggattttgttaaaaagatcc	10	18	6	7	1	3	1	1	0	2	1	5	2	4	2	1	1	0	3	1	1	4	8			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr2:74002107C>A	uc002sjp.3	-	2	425	c.383G>T	c.(382-384)cGa>cTa	p.R128L	DUSP11_uc002sjq.4_Missense_Mutation_p.R128L	NM_003584	NP_003575	O75319	DUS11_HUMAN	Homo sapiens dual specificity phosphatase 11 (RNA/RNP complex 1-interacting) (DUSP11), mRNA.	81	Tyrosine-protein phosphatase.				RNA processing	nucleus	RNA binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						ATTTTGTTCTCGGATTTTGTT	0.338													3	173					0.115264	0.131273	1	1	0	A	74002107	C	A	74002107	3	1	51	1	0	0	0	0	1	0	0	0	4811	884	31	5	778	5	DUSP11	2	74002107	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08		74002107	169197266	8	2105											
HOXD4	3233	broad.mit.edu	37	chr2	177017514	177017514	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcaagatctggttccagaaCcggaggatgaagtggaaaaa	16	7	12	6	1	2	3	1	1	1	2	3	6	3	6	2	4	1	1	2	4	5	1			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr2:177017514C>A	uc002uks.3	+	1	861	c.612C>A	c.(610-612)aaC>aaA	p.N204K		NM_014621	NP_055436	P09016	HXD4_HUMAN	Homo sapiens homeobox D4 (HOXD4), mRNA.	204						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GGTTCCAGAACCGGAGGATGA	0.502													19	151					5.3912e-06	6.59819e-06	1	1	0	A	177017514	C	A	177017514	3	1	51	1	0	0	0	0	1	0	0	0	7324	506	18	5	618	5	HOXD4	2	177017514	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08	103015407	177017514	66181859	9	2106											
ZDBF2	57683	broad.mit.edu	37	chr2	207169636	207169636	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cataaatctcaggaaggcacGcaggaggtttcagttcgacc	12	8	11	10	2	2	0	2	0	1	0	4	3	2	2	1	4	0	4	1	4	3	3	rs143619911	by1000genomes	TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr2:207169636G>A	uc002vbp.2	+	4	634	c.384G>A	c.(382-384)acG>acA	p.T128T		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	128							nucleic acid binding|zinc ion binding	p.T128T(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGGAAGGCACGCAGGAGGTTT	0.453													12	62					0	0	1	0	0	A	207169636	G	A	207169636	2	1	51	1	0	0	0	0	0	0	0	1	17596	1074	38	1		1	ZDBF2	2	207169636	Silent	SNP	G	TCGA-DH-5143-01A-01D-1468-08	30152122	207169636	36029737	10	2107											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								41	87					0	0	1	0	0	T	209113112	C	T	209113112	3	4	51	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08	1943476	209113112	34086261	11	2108											
EPHA4	2043	broad.mit.edu	37	chr2	222347239	222347239	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgtggggtgtagtggAccccacttccacagggtcgg	5	10	15	11	1	1	0	0	0	1	0	3	1	2	1	3	5	1	2	3	5	1	2			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr2:222347239A>G	uc002vmq.3	-	4	1193	c.1151T>C	c.(1150-1152)gTc>gCc	p.V384A	EPHA4_uc002vmr.2_Missense_Mutation_p.V384A|EPHA4_uc010zlm.1_Missense_Mutation_p.V325A	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	384	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GGTGTAGTGGACCCCACTTCC	0.512													88	518					0	0	1	0	0	G	222347239	A	G	222347239	3	3	51	1	0	0	0	0	1	0	0	0	5169	275	10	3	1861	3	EPHA4	2	222347239	Missense_Mutation	SNP	A	TCGA-DH-5143-01A-01D-1468-08	13234127	222347239	20852134	12	2109											
MLH1	4292	broad.mit.edu	37	chr3	37045902	37045902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttccttaggctttggccaGcataagccatgtggctcatg	7	13	10	11	0	2	0	1	0	1	0	3	0	3	0	3	3	2	3	3	3	2	4			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr3:37045902G>A	uc003cgl.3	+	3	515	c.317G>A	c.(316-318)aGc>aAc	p.S106N	MLH1_uc011aye.2_5'UTR|MLH1_uc011ayb.2_5'UTR|MLH1_uc010hge.3_Missense_Mutation_p.S106N|MLH1_uc011ayc.2_Missense_Mutation_p.S8N|MLH1_uc011ayd.2_5'UTR|MLH1_uc003cgo.3_5'UTR|MLH1_uc003cgn.4_5'UTR	NM_000249	NP_001161091	P40692	MLH1_HUMAN	Homo sapiens mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) (MLH1), transcript variant 1, mRNA.	106			S -> R (in gastric cancer; uncertain pathogenicity).		mismatch repair|somatic hypermutation of immunoglobulin genes	MutLalpha complex|MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						GCTTTGGCCAGCATAAGCCAT	0.408		1	"D, Mis, N, F, S"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				5	246					0	0	1	0	0	A	37045902	G	A	37045902	3	1	51	1	0	0	0	0	1	0	0	0	9617	971	34	3	331	3	MLH1	3	37045902	Missense_Mutation	SNP	G	TCGA-DH-5143-01A-01D-1468-08		37045902	160976528	13	2110											
HIGD1A	25994	broad.mit.edu	37	chr3	42835698	42835698	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcgaatgagttttgatccCtgatcttcctcatatgaagg	9	16	8	8	1	2	4	1	4	1	0	5	5	4	4	2	1	0	1	2	1	3	5			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr3:42835698C>A	uc010hid.3	-	1	341	c.90G>T	c.(88-90)caG>caT	p.Q30H	HIGD1A_uc003cma.4_Missense_Mutation_p.Q16H|HIGD1A_uc003cmb.4_Missense_Mutation_p.Q16H	NM_001099668	NP_054775	Q9Y241	HIG1A_HUMAN	Homo sapiens HIG1 hypoxia inducible domain family, member 1A (HIGD1A), transcript variant 1, mRNA.	16	HIG1.				response to stress	integral to membrane|protein complex	protein binding			lung(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GTTTTGATCCCTGATCTTCCT	0.398													4	160					0.150653	0.164714	1	1	0	A	42835698	C	A	42835698	3	1	51	1	0	0	0	0	1	0	0	0	7106	680	24	5	245	5	HIGD1A	3	42835698	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08	5789796	42835698	155186732	14	2111											
GABRB1	2560	broad.mit.edu	37	chr4	47427893	47427893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggggtacccagcaaggggcGcatccgcaggcgtgcctccc	6	4	15	16	4	0	0	0	0	0	0	2	0	2	0	4	5	3	4	4	5	2	1			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr4:47427893G>A	uc003gxh.3	+	8	1657	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H	GABRB1_uc011bze.2_Missense_Mutation_p.R358H	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	428					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.R428C(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGCAAGGGGCGCATCCGCAGG	0.607													4	174					0	0	1	0	0	A	47427893	G	A	47427893	3	1	51	1	0	0	0	0	1	0	0	0	6166	1087	38	1	1317	1	GABRB1	4	47427893	Missense_Mutation	SNP	G	TCGA-DH-5143-01A-01D-1468-08		47427893	143726383	15	2112											
CEP135	9662	broad.mit.edu	37	chr4	56823426	56823426	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attgctttcaggcgccagcgTatgcaaattgatgaaccggt	10	11	11	9	3	1	2	1	2	0	0	1	2	1	2	2	2	4	3	2	2	3	4			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr4:56823426T>C	uc003hbi.3	+	4	744	c.510T>C	c.(508-510)cgT>cgC	p.R170R	CEP135_uc003hbh.1_Silent_p.R170R|CEP135_uc010igz.1_5'UTR	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	Homo sapiens centrosomal protein 135kDa (CEP135), mRNA.	170					G2/M transition of mitotic cell cycle|centriole replication|centriole-centriole cohesion	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GGCGCCAGCGTATGCAAATTG	0.398													4	271					0	0	1	0	0	C	56823426	T	C	56823426	2	2	51	1	0	0	0	0	0	0	0	1	3247	1625	57	3		3	CEP135	4	56823426	Silent	SNP	T	TCGA-DH-5143-01A-01D-1468-08	9395533	56823426	134330850	16	2113											
MYOT	9499	broad.mit.edu	37	chr5	137222679	137222679	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgtaacacaagattagaCgttacgggtatgtcatacta	15	11	8	7	2	1	2	1	0	0	2	1	2	1	2	0	1	3	3	0	1	7	6	rs147891371		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr5:137222679C>A	uc011cye.2	+	8	1334	c.1317C>A	c.(1315-1317)gaC>gaA	p.D439E	PKD2L2_uc010jep.1_5'Flank|PKD2L2_uc003lbw.1_5'Flank|PKD2L2_uc003lbx.3_5'Flank|PKD2L2_uc003lby.3_5'Flank|MYOT_uc003lbv.3_Missense_Mutation_p.D439E|MYOT_uc011cyg.2_Missense_Mutation_p.D255E|MYOT_uc011cyh.2_Missense_Mutation_p.D324E	NM_001135940	NP_001129412	Q9UBF9	MYOTI_HUMAN	Homo sapiens myotilin (MYOT), transcript variant 2, mRNA.	439	Ig-like C2-type 2.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAAGATTAGACGTTACGGGTA	0.328													3	139					0.150653	0.164714	1	1	0	A	137222679	C	A	137222679	3	1	51	1	0	0	0	0	1	0	0	0	10094	535	19	5	1347	5	MYOT	5	137222679	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08		137222679	43692581	17	2114											
SLIT3	6586	broad.mit.edu	37	chr5	168112756	168112756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttccacgtaggagtctttgCccacgaagttgacagtgatg	9	11	12	9	2	1	2	0	2	1	0	2	4	2	3	2	1	1	3	2	1	2	4			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr5:168112756C>T	uc010jjg.3	-	30	3932	c.3512G>A	c.(3511-3513)gGc>gAc	p.G1171D	SLIT3_uc003mab.3_Missense_Mutation_p.G1164D	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1164	Laminin G-like.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAGTCTTTGCCCACGAAGTT	0.662													4	111					0	0	1	0	0	T	168112756	C	T	168112756	3	4	51	1	0	0	0	0	1	0	0	0	14741	739	26	3	1104	3	SLIT3	5	168112756	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08	30890077	168112756	12802504	18	2115											
EXOC2	55770	broad.mit.edu	37	chr6	572531	572531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatacacacctcactgaagaGgcttccattaacgtaggaga	14	9	8	10	1	1	3	1	1	0	2	2	4	2	3	2	2	2	2	2	2	5	5			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr6:572531G>A	uc003mtd.3	-	12	1566	c.1432C>T	c.(1432-1434)Ctc>Ttc	p.L478F	EXOC2_uc003mte.3_Missense_Mutation_p.L478F|EXOC2_uc011dho.2_Missense_Mutation_p.L73F	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Homo sapiens exocyst complex component 2 (EXOC2), mRNA.	478					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TCACTGAAGAGGCTTCCATTA	0.438													13	69					0	0	1	0	0	A	572531	G	A	572531	3	1	51	1	0	0	0	0	1	0	0	0	5302	1000	35	3	1406	3	EXOC2	6	572531	Missense_Mutation	SNP	G	TCGA-DH-5143-01A-01D-1468-08		572531	170542536	19	2116											
FAM65B	9750	broad.mit.edu	37	chr6	24843453	24843453	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcacctgaggactgtcggcgGcaagcctcagatggggccga	8	5	16	12	3	1	2	1	1	0	1	2	4	1	3	3	5	1	2	3	5	1	0			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr6:24843453G>A	uc003neo.1	-	13	1733	c.1557C>T	c.(1555-1557)tgC>tgT	p.C519C	FAM65B_uc011djs.1_Silent_p.C498C|FAM65B_uc011dju.2_Silent_p.C503C|FAM65B_uc003nep.3_Silent_p.C469C|FAM65B_uc011djt.2_Silent_p.C469C	NM_014722	NP_055537	Q9Y4F9	FA65B_HUMAN	Homo sapiens family with sequence similarity 65, member B (FAM65B), transcript variant 1, mRNA.	519					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						ACTGTCGGCGGCAAGCCTCAG	0.587													4	105					0	0	1	0	0	A	24843453	G	A	24843453	2	1	51	1	0	0	0	0	0	0	0	1	5600	1195	42	3		3	FAM65B	6	24843453	Silent	SNP	G	TCGA-DH-5143-01A-01D-1468-08	24270922	24843453	146271614	20	2117											
PIM1	5292	broad.mit.edu	37	chr6	37138975	37138975	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtttctccggcgtcattagGctcctggactggttcgagag	5	12	14	10	3	2	1	1	0	1	1	5	3	3	2	2	5	0	3	2	5	1	3			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr6:37138975G>C	uc003onk.3	+	3	745	c.315G>C	c.(313-315)agG>agC	p.R105S	PIM1_uc011dtw.2_5'Flank	NM_002648	NP_002639	P11309	PIM1_HUMAN	Homo sapiens pim-1 oncogene (PIM1), transcript variant 1, mRNA.	196					cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	GCGTCATTAGGCTCCTGGACT	0.617			T	BCL6	NHL								5	347					0	0	1	0	0	C	37138975	G	C	37138975	3	2	51	1	0	0	0	0	1	0	0	0	11927	1194	42	5	329	5	PIM1	6	37138975	Missense_Mutation	SNP	G	TCGA-DH-5143-01A-01D-1468-08	12295522	37138975	133976092	21	2118											
TBRG4	9238	broad.mit.edu	37	chr7	45148519	45148519	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcagacagcaagtgagagagCcggataagtaccattgctgc	13	7	12	9	1	1	3	1	1	0	2	1	5	1	4	2	1	5	3	2	1	3	3			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr7:45148519C>T	uc011kcd.2	-	1	400	c.351G>A	c.(349-351)cgG>cgA	p.R117R	TBRG4_uc003tmu.3_5'Flank|TBRG4_uc003tmv.3_Silent_p.R106R|TBRG4_uc003tmw.3_Silent_p.R106R|TBRG4_uc003tmx.3_Silent_p.R106R|TBRG4_uc003tna.4_5'Flank	NM_004749	NP_004740	Q969Z0	TBRG4_HUMAN	Homo sapiens transforming growth factor beta regulator 4 (TBRG4), transcript variant 1, mRNA.	106					G1 phase of mitotic cell cycle|apoptosis|cell cycle arrest|cellular respiration|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						AGTGAGAGAGCCGGATAAGTA	0.517													5	242					0	0	1	0	0	T	45148519	C	T	45148519	2	4	51	1	0	0	0	0	0	0	0	1	15646	726	26	3		3	TBRG4	7	45148519	Silent	SNP	C	TCGA-DH-5143-01A-01D-1468-08		45148519	113990144	22	2119											
RBM33	155435	broad.mit.edu	37	chr7	155530752	155530752	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatgttgtgttacctttcAgtttcaggtgaaccaagatt	10	16	9	6	0	2	3	2	2	0	1	2	3	2	3	2	1	2	3	2	1	3	5			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr7:155530752A>G	uc010lqk.1	+	11	1762	c.1394_splice	c.e11-2	p.V465_splice	RBM33_uc011kvv.1_Splice_Site_p.V274_splice	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	Homo sapiens RNA binding motif protein 33 (RBM33), mRNA.	465	Pro-rich.						RNA binding|nucleotide binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		GTTACCTTTCAGTTTCAGGTG	0.468													38	136					0	0	1	0	0	G	155530752	A	G	155530752	5	3	51	1	0	0	0	0	0	0	1	0	13130	202	7	4	1434	4	RBM33	7	155530752	Splice_Site	SNP	A	TCGA-DH-5143-01A-01D-1468-08	110382233	155530752	3607911	23	2120											
DPYS	1807	broad.mit.edu	37	chr8	105459569	105459569	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctctgcaattaagtctcCattttccgcatggacctggg	8	13	8	12	1	2	0	0	0	2	0	4	1	3	1	4	2	2	2	4	2	3	4			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr8:105459569C>A	uc003yly.4	-	2	715	c.586G>T	c.(586-588)Gga>Tga	p.G196*		NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	196					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATTAAGTCTCCATTTTCCGCA	0.458													3	82					1	1	1	1	0	A	105459569	C	A	105459569	4	1	51	1	0	0	0	0	0	1	0	0	4746	603	21	5	1001	5	DPYS	8	105459569	Nonsense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08		105459569	40904453	24	2121											
ZFAT	57623	broad.mit.edu	37	chr8	135614421	135614421	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccaccagctgtagctggTcccccagagcttcttgctgg	5	11	10	15	0	1	1	0	0	1	1	3	1	3	1	4	2	4	5	4	2	1	4			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr8:135614421T>C	uc003yup.3	-	5	1727	c.1541A>G	c.(1540-1542)gAc>gGc	p.D514G	ZFAT_uc003yun.3_Missense_Mutation_p.D502G|ZFAT_uc003yuo.3_Missense_Mutation_p.D502G|ZFAT_uc010meh.3_Missense_Mutation_p.D502G|ZFAT_uc010mej.3_Missense_Mutation_p.D452G|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.D502G|ZFAT_uc003yur.3_Missense_Mutation_p.D502G	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	p.Q514L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTGTAGCTGGTCCCCCAGAGC	0.617													4	73					0	0	1	0	0	C	135614421	T	C	135614421	3	2	51	1	0	0	0	0	1	0	0	0	17629	1667	58	3	2234	3	ZFAT	8	135614421	Missense_Mutation	SNP	T	TCGA-DH-5143-01A-01D-1468-08	30154852	135614421	10749601	25	2122											
KIF24	347240	broad.mit.edu	37	chr9	34256411	34256411	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgctccgagggaggaGacccttcgttgtctgggttc	5	10	14	12	2	1	1	0	0	1	1	4	4	2	2	3	3	2	4	3	3	0	3			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr9:34256411G>T	uc003zua.4	-	10	3314	c.3194C>A	c.(3193-3195)tCt>tAt	p.S1065Y	KIF24_uc010mkb.3_Intron	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	Homo sapiens kinesin family member 24 (KIF24), mRNA.	1065					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CGAGGGAGGAGACCCTTCGTT	0.592													4	138					0.00909568	0.0105049	1	1	0	T	34256411	G	T	34256411	3	4	51	1	0	0	0	0	1	0	0	0	8292	942	33	5	924	5	KIF24	9	34256411	Missense_Mutation	SNP	G	TCGA-DH-5143-01A-01D-1468-08		34256411	106957020	26	2123											
ODF3	113746	broad.mit.edu	37	chr11	200001	200001	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcggcatcaaacactctgatTacatgactcccctgctggtt	9	12	7	13	1	2	2	1	2	1	0	4	2	3	2	2	2	3	3	2	2	2	2			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr11:200001T>G	uc001lob.3	+	6	1027	c.733T>G	c.(733-735)Tac>Gac	p.Y245D	ODF3_uc010qvk.2_Missense_Mutation_p.Y198D|ODF3_uc001loc.3_3'UTR	NM_053280	NP_444510	Q96PU9	ODF3A_HUMAN	Homo sapiens outer dense fiber of sperm tails 3 (ODF3), mRNA.	245					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm				biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		ACACTCTGATTACATGACTCC	0.607													3	94					0	0	1	0	0	G	200001	T	G	200001	3	3	51	1	0	0	0	0	1	0	0	0	10829	1754	61	5	755	5	ODF3	11	200001	Missense_Mutation	SNP	T	TCGA-DH-5143-01A-01D-1468-08		200001	134806515	27	2124											
NAT10	55226	broad.mit.edu	37	chr11	34152413	34152413	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaattcagcagctccgtcAacagagcgcccagagccagg	11	5	11	14	2	2	2	2	0	0	2	3	2	3	2	3	1	5	3	3	1	2	2	rs147641652		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr11:34152413A>C	uc001mvk.3	+	12	1542	c.1298A>C	c.(1297-1299)cAa>cCa	p.Q433P	NAT10_uc010ren.2_Missense_Mutation_p.Q361P	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	Homo sapiens N-acetyltransferase 10 (GCN5-related) (NAT10), transcript variant 1, mRNA.	433						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CAGCTCCGTCAACAGAGCGCC	0.567													34	127					0	0	1	0	0	C	34152413	A	C	34152413	3	2	51	1	0	0	0	0	1	0	0	0	10174	130	5	5	1344	5	NAT10	11	34152413	Missense_Mutation	SNP	A	TCGA-DH-5143-01A-01D-1468-08	33952412	34152413	100854103	28	2125											
OR5A1	219982	broad.mit.edu	37	chr11	59211549	59211549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaacaaagagatcaaggatgCcctgtggaaggtgttggaaa	15	7	14	5	0	1	1	1	0	0	1	1	6	1	4	1	4	2	1	1	4	5	1			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr11:59211549C>T	uc001nnx.1	+	0	908	c.908C>T	c.(907-909)gCc>gTc	p.A303V		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						ATCAAGGATGCCCTGTGGAAG	0.428													5	306					0	0	1	0	0	T	59211549	C	T	59211549	3	4	51	1	0	0	0	0	1	0	0	0	11139	739	26	3	910	3	OR5A1	11	59211549	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08	25059136	59211549	75794967	29	2126											
ARAP1	116985	broad.mit.edu	37	chr11	72410502	72410502	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgccaggcacacaatctCgctggcccgaatctctccat	9	8	7	17	2	2	0	0	0	2	0	5	1	3	0	3	2	1	2	3	2	2	0			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr11:72410502C>A	uc001osu.3	-	16	2587	c.2398G>T	c.(2398-2400)Gag>Tag	p.E800*	ARAP1_uc001osv.3_Nonsense_Mutation_p.E800*|ARAP1_uc001osr.3_Nonsense_Mutation_p.E560*|ARAP1_uc001oss.3_Nonsense_Mutation_p.E555*|ARAP1_uc009yth.3_Nonsense_Mutation_p.E494*|ARAP1_uc010rre.2_Nonsense_Mutation_p.E555*	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	800	PH 3.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CACACAATCTCGCTGGCCCGA	0.592													3	93					1	1	1	1	0	A	72410502	C	A	72410502	4	1	51	1	0	0	0	0	0	1	0	0	838	893	31	5	2030	5	ARAP1	11	72410502	Nonsense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08	13198953	72410502	62596014	30	2127											
FOXJ2	55810	broad.mit.edu	37	chr12	8200512	8200512	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgggggacatcccaccctcGaacaactactacatgtatca	12	8	7	14	1	1	0	1	0	0	0	3	2	2	1	2	2	4	1	2	2	5	3			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr12:8200512G>A	uc001qtu.3	+	6	1937	c.852G>A	c.(850-852)tcG>tcA	p.S284S	FOXJ2_uc001qtt.1_Silent_p.S284S	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	Homo sapiens forkhead box J2 (FOXJ2), mRNA.	284					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		TCCCACCCTCGAACAACTACT	0.567													9	88					0	0	1	0	0	A	8200512	G	A	8200512	2	1	51	1	0	0	0	0	0	0	0	1	6012	1045	37	2		2	FOXJ2	12	8200512	Silent	SNP	G	TCGA-DH-5143-01A-01D-1468-08		8200512	125651383	31	2128											
A2M	2	broad.mit.edu	37	chr12	9243977	9243977	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggcccctgccttccactcGgtgatggtgtcagggactgt	6	10	13	12	1	1	1	1	1	0	0	3	2	2	2	4	4	1	0	4	4	1	1			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr12:9243977G>A	uc001qvk.1	-	18	2402	c.2289C>T	c.(2287-2289)acC>acT	p.T763T	A2M_uc009zgk.1_Silent_p.T613T	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	763					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CCTTCCACTCGGTGATGGTGT	0.522													19	174					0	0	1	0	0	A	9243977	G	A	9243977	2	1	51	1	0	0	0	0	0	0	0	1	4	1103	39	2		2	A2M	12	9243977	Silent	SNP	G	TCGA-DH-5143-01A-01D-1468-08	1043465	9243977	124607918	32	2129											
PZP	5858	broad.mit.edu	37	chr12	9317915	9317915	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggcccctgccttccactcGgtgatggtgtcagggactgt	6	10	13	12	1	1	1	1	1	0	0	3	2	2	2	4	4	1	0	4	4	1	1			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr12:9317915G>A	uc001qvl.3	-	18	2336	c.2307C>T	c.(2305-2307)acC>acT	p.T769T	PZP_uc009zgl.3_Silent_p.T638T|PZP_uc010sgo.1_Non-coding_Transcript|PZP_uc009zgm.1_Silent_p.T101T	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CCTTCCACTCGGTGATGGTGT	0.537													31	99					0	0	1	0	0	A	9317915	G	A	9317915	2	1	51	1	0	0	0	0	0	0	0	1	12869	1103	39	2		2	PZP	12	9317915	Silent	SNP	G	TCGA-DH-5143-01A-01D-1468-08	73938	9317915	124533980	33	2130											
MANSC1	54682	broad.mit.edu	37	chr12	12483294	12483294	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggttggagatttctgtaaaCggtatggtttctaagctgcc	9	14	12	6	1	2	1	0	0	2	1	2	2	2	1	1	4	3	5	1	4	4	6	rs146158847	byFrequency	TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr12:12483294C>T	uc001rai.1	-	3	1221	c.963G>A	c.(961-963)ccG>ccA	p.P321P	MANSC1_uc010shm.1_Silent_p.P255P|MANSC1_uc001raj.1_Silent_p.P287P	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	Homo sapiens MANSC domain containing 1 (MANSC1), mRNA.	321	Thr-rich.					integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		TTTCTGTAAACGGTATGGTTT	0.458													24	210					0	0	1	0	0	T	12483294	C	T	12483294	2	4	51	1	0	0	0	0	0	0	0	1	9224	523	19	1		1	MANSC1	12	12483294	Silent	SNP	C	TCGA-DH-5143-01A-01D-1468-08	3165379	12483294	121368601	34	2131											
COCH	1690	broad.mit.edu	37	chr14	31348670	31348670	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccacaggacaagcagtgTccacagcacatccaccaaca	15	3	8	15	0	0	0	0	0	0	0	2	1	2	1	4	2	3	2	4	2	2	0			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr14:31348670T>C	uc001wqr.2	+	5	495	c.415T>C	c.(415-417)Tcc>Ccc	p.S139P	COCH_uc001wqp.2_Missense_Mutation_p.S139P|COCH_uc001wqq.4_Missense_Mutation_p.S139P|LOC100506071_uc001wqs.3_Intron|COCH_uc001wqt.1_5'Flank	NM_004086	NP_004077	O43405	COCH_HUMAN	Homo sapiens coagulation factor C homolog, cochlin (Limulus polyphemus) (COCH), transcript variant 2, mRNA.	139					sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		ACAAGCAGTGTCCACAGCACA	0.393													44	129					0	0	1	0	0	C	31348670	T	C	31348670	3	2	51	1	0	0	0	0	1	0	0	0	3656	1667	58	3	433	3	COCH	14	31348670	Missense_Mutation	SNP	T	TCGA-DH-5143-01A-01D-1468-08		31348670	76000870	35	2132											
STRN3	29966	broad.mit.edu	37	chr14	31380280	31380280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggatctacactgggactcgGcatattccaccactggatgg	9	10	11	11	1	1	0	0	0	1	0	3	3	2	3	2	5	1	1	2	5	2	3			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr14:31380280G>A	uc001wqu.2	-	12	1903	c.1687C>T	c.(1687-1689)Ccg>Tcg	p.P563S	STRN3_uc001wqv.2_Missense_Mutation_p.P479S|STRN3_uc010tpj.1_Non-coding_Transcript	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	Homo sapiens striatin, calmodulin binding protein 3 (STRN3), transcript variant 1, mRNA.	563					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	Golgi apparatus|cytoplasm|dendrite|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	p.P479T(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		CTGGGACTCGGCATATTCCAC	0.368													4	181					0	0	1	0	0	A	31380280	G	A	31380280	3	1	51	1	0	0	0	0	1	0	0	0	15329	1203	42	3	730	3	STRN3	14	31380280	Missense_Mutation	SNP	G	TCGA-DH-5143-01A-01D-1468-08	31610	31380280	75969260	36	2133											
YLPM1	56252	broad.mit.edu	37	chr14	75248158	75248159	+	Frame_Shift_Del	DEL	AT	AT	-																															acaactccattcctatcctcAtaaagatcagcttcaggagt																										TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr14:75248158_75248159delAT	uc001xqj.4	+	3	1536_1537	c.1412_1413delAT	c.(1411-1413)catfs	p.H471fs	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TCCTATCCTCATAAAGATCAGC	0.446													7	42	---	---	---	---						-	75248159	AT	-	75248158	7	5	51	1	0	1	0	1	0	0	0	0	17483	217	8	0	1426	0	YLPM1	14	75248158	Frame_Shift_Del	DEL	AT	TCGA-DH-5143-01A-01D-1468-08	43867878	75248158	32101382	37	2134											
GPR132	29933	broad.mit.edu	37	chr14	105518221	105518221	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtacagcagctcgcagagtgCcaggcagagcaggtagacgg	11	4	16	10	2	0	3	0	0	0	3	1	3	0	3	1	3	5	7	1	3	2	2			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr14:105518221C>T	uc001yqd.3	-	3	1152	c.253G>A	c.(253-255)Gca>Aca	p.A85T	GPR132_uc001yqc.3_5'UTR|GPR132_uc001yqe.3_Missense_Mutation_p.A76T	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	Homo sapiens G protein-coupled receptor 132 (GPR132), mRNA.	85					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A85T(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		TCGCAGAGTGCCAGGCAGAGC	0.657													4	176					0	0	1	0	0	T	105518221	C	T	105518221	3	4	51	1	0	0	0	0	1	0	0	0	6642	739	26	3	893	3	GPR132	14	105518221	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08	30270063	105518221	1831319	38	2135											
BRF1	2972	broad.mit.edu	37	chr14	105752650	105752650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccattctgcagggtctgcGctctcgactccttccccaga	6	11	8	16	2	3	1	0	0	3	1	6	2	5	1	4	1	3	2	4	1	1	3			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr14:105752650G>A	uc001yqp.2	-	1	611	c.248C>T	c.(247-249)gCg>gTg	p.A83V	BRF1_uc010tyo.1_5'UTR|BRF1_uc010typ.1_5'UTR|BRF1_uc010axg.1_Intron|BRF1_uc001yqr.3_Missense_Mutation_p.A83V	NM_001519	NP_663718	Q92994	TF3B_HUMAN	Homo sapiens BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae) (BRF1), transcript variant 1, mRNA.	83					positive regulation of transcription, DNA-dependent|rRNA transcription|tRNA transcription|transcription initiation from RNA polymerase III promoter	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		CAGGGTCTGCGCTCTCGACTC	0.587													3	34					0	0	1	0	0	A	105752650	G	A	105752650	3	1	51	1	0	0	0	0	1	0	0	0	1510	1087	38	1	1853	1	BRF1	14	105752650	Missense_Mutation	SNP	G	TCGA-DH-5143-01A-01D-1468-08	234429	105752650	1596890	39	2136											
RYR3	6263	broad.mit.edu	37	chr15	34130251	34130251	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcagaaagtgtgctaaatTacttcgaaccctacctagga	14	9	8	10	1	0	1	0	0	0	1	1	3	0	2	2	1	5	2	2	1	7	5			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr15:34130251T>C	uc001zhi.3	+	88	12140	c.12070T>C	c.(12070-12072)Tac>Cac	p.Y4024H	RYR3_uc010bar.3_Missense_Mutation_p.Y4019H	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	4024					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.F4024F(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGTGCTAAATTACTTCGAACC	0.468													74	198					0	0	1	0	0	C	34130251	T	C	34130251	3	2	51	1	0	0	0	0	1	0	0	0	13770	1754	61	3	12424	3	RYR3	15	34130251	Missense_Mutation	SNP	T	TCGA-DH-5143-01A-01D-1468-08		34130251	68401141	40	2137											
HDC	3067	broad.mit.edu	37	chr15	50555560	50555560	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcgtcacacgtctctcccGcacagtgctcaggtactggc	6	9	11	15	3	3	0	2	0	1	0	5	0	4	0	1	3	2	3	1	3	1	1			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr15:50555560G>A	uc001zxz.3	-	1	418	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	HDC_uc010uff.2_Missense_Mutation_p.R26W|HDC_uc010bet.2_Missense_Mutation_p.R26W|HDC_uc010beu.2_Missense_Mutation_p.R26W	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	26					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CGTCTCTCCCGCACAGTGCTC	0.577													4	168					0	0	1	0	0	A	50555560	G	A	50555560	3	1	51	1	0	0	0	0	1	0	0	0	7015	1086	38	1	1956	1	HDC	15	50555560	Missense_Mutation	SNP	G	TCGA-DH-5143-01A-01D-1468-08	16425309	50555560	51975832	41	2138											
HEXA	3073	broad.mit.edu	37	chr15	72668152	72668152	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggactgagcagccgggctgCgcggccgagctgacatcgta	8	5	16	12	5	0	2	0	2	0	0	1	4	0	3	2	3	4	4	2	3	1	1			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr15:72668152C>T	uc002aun.4	-	0	369	c.162G>A	c.(160-162)gcG>gcA	p.A54A	CELF6_uc002auk.3_Non-coding_Transcript|HEXA_uc010ukn.2_Silent_p.A54A|HEXA_uc010bix.3_Silent_p.A54A|HEXA_uc010biy.2_5'UTR|HEXA_uc010uko.1_5'UTR|C15orf34_uc010ukp.1_5'Flank	NM_000520	NP_000511	P06865	HEXA_HUMAN	Homo sapiens hexosaminidase A (alpha polypeptide) (HEXA), mRNA.	54					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						AGCCGGGCTGCGCGGCCGAGC	0.617													5	336					0	0	1	0	0	T	72668152	C	T	72668152	2	4	51	1	0	0	0	0	0	0	0	1	7073	755	27	1		1	HEXA	15	72668152	Silent	SNP	C	TCGA-DH-5143-01A-01D-1468-08	22112592	72668152	29863240	42	2139											
CHD9	80205	broad.mit.edu	37	chr16	53338156	53338156	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taaaatctgagcctgtaagtCcaaagaatggtgttttacca	14	12	8	7	0	1	2	0	1	1	1	2	2	2	2	3	1	2	2	3	1	6	4			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr16:53338156C>A	uc002ehb.3	+	29	6402	c.6238C>A	c.(6238-6240)Cca>Aca	p.P2080T	CHD9_uc002egy.3_Missense_Mutation_p.P2080T|CHD9_uc002ehc.3_Missense_Mutation_p.P2080T|CHD9_uc002ehf.3_Missense_Mutation_p.P1194T|CHD9_uc002ehg.2_Missense_Mutation_p.P1194T|CHD9_uc010cbw.3_Intron	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	2080					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GCCTGTAAGTCCAAAGAATGG	0.428													3	35					1	1	1	1	0	A	53338156	C	A	53338156	3	1	51	1	0	0	0	0	1	0	0	0	3332	855	30	5	6356	5	CHD9	16	53338156	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08		53338156	37016597	43	2140											
KIFC3	3801	broad.mit.edu	37	chr16	57805333	57805333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgggacagcttgtcaCggagctgggcgctctcctgc	5	8	15	13	2	2	0	1	0	1	0	3	2	2	2	1	3	4	5	1	3	0	1			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr16:57805333C>T	uc002emq.3	-	5	739	c.542G>A	c.(541-543)cGt>cAt	p.R181H	KIFC3_uc010vhw.2_Missense_Mutation_p.R79H|KIFC3_uc002emn.3_Non-coding_Transcript|KIFC3_uc002emm.3_Missense_Mutation_p.R42H|KIFC3_uc010vhx.2_Missense_Mutation_p.R42H|KIFC3_uc010cdf.3_Missense_Mutation_p.R42H|KIFC3_uc002emo.4_Missense_Mutation_p.R42H|KIFC3_uc010vhy.2_Missense_Mutation_p.R123H|KIFC3_uc002emp.3_Missense_Mutation_p.R181H|KIFC3_uc010vhz.2_Missense_Mutation_p.R203H|KIFC3_uc002emr.1_Intron	NM_001130100	NP_001123571	Q9BVG8	KIFC3_HUMAN	Homo sapiens kinesin family member C3 (KIFC3), transcript variant 2, mRNA.	181					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				CAGCTTGTCACGGAGCTGGGC	0.627													6	397					0	0	1	0	0	T	57805333	C	T	57805333	3	4	51	1	0	0	0	0	1	0	0	0	8314	536	19	1	2024	1	KIFC3	16	57805333	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08	4467177	57805333	32549420	44	2141											
TP53	7157	broad.mit.edu	37	chr17	7577144	7577144	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaaagctgttccgtcccAgtagattaccactactcagg	10	10	7	14	1	2	1	2	0	0	1	4	1	4	1	4	1	3	3	4	1	4	4			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr17:7577144A>C	uc002gim.2	-	7	988	c.794T>G	c.(793-795)cTg>cGg	p.L265R	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.L265R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.L133R|TP53_uc010cnf.1_Missense_Mutation_p.L133R|TP53_uc002gii.1_Missense_Mutation_p.L133R|TP53_uc010cni.1_Missense_Mutation_p.L265R|TP53_uc010cnh.1_Missense_Mutation_p.L265R|TP53_uc002gij.2_Missense_Mutation_p.L265R|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.	265	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		L -> M (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.L265P(30)|p.L265R(9)|p.0?(8)|p.L264L(5)|p.G262_F270delGNLLGRNSF(4)|p.L264fs*81(4)|p.L264del(4)|p.G262_S269delGNLLGRNS(4)|p.L265M(4)|p.L265fs*80(3)|p.L264I(3)|p.?(3)|p.L265del(3)|p.L265L(3)|p.L265_R267delLGR(2)|p.L265_K305del41(2)|p.L265Q(2)|p.264_265insSSGNL(1)|p.E258fs*71(1)|p.L265fs*81(1)|p.G262fs*2(1)|p.L264V(1)|p.L264P(1)|p.L264R(1)|p.S261_L264>R(1)|p.N263fs*5(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)		GTTCCGTCCCAGTAGATTACC	0.522		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)			15	36					0	0	1	0	0	C	7577144	A	C	7577144	3	2	51	1	0	0	0	0	1	0	0	0	16378	188	7	5	492	5	TP53	17	7577144	Missense_Mutation	SNP	A	TCGA-DH-5143-01A-01D-1468-08		7577144	73618066	45	2142											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr17:7577538C>T	uc002gim.2	-	6	937	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.3_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q|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.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			44	37					0	0	1	0	0	T	7577538	C	T	7577538	3	4	51	1	0	0	0	0	1	0	0	0	16378	652	23	2	547	2	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08	394	7577538	73617672	46	2143											
ACACA	31	broad.mit.edu	37	chr17	35600456	35600456	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctgagggttttcatcaatCgctctacccagtcttttacc	7	15	6	13	1	5	1	2	1	3	0	6	1	5	1	2	1	2	2	2	1	3	5			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr17:35600456C>T	uc002hnm.3	-	21	2842	c.2651G>A	c.(2650-2652)cGa>cAa	p.R884Q	ACACA_uc002hnk.3_Missense_Mutation_p.R806Q|ACACA_uc002hnl.3_Missense_Mutation_p.R826Q|ACACA_uc002hnn.3_Missense_Mutation_p.R884Q|ACACA_uc002hno.3_Missense_Mutation_p.R921Q|ACACA_uc010cuz.3_Missense_Mutation_p.R884Q	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	884					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTTCATCAATCGCTCTACCCA	0.423													91	273					0	0	1	0	0	T	35600456	C	T	35600456	3	4	51	1	0	0	0	0	1	0	0	0	106	884	31	2	4529	2	ACACA	17	35600456	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08	28022918	35600456	45594754	47	2144											
RGS9	8787	broad.mit.edu	37	chr17	63200387	63200387	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accgctatgtgctggacgccGcacaaacccacatttacatg	11	8	8	14	3	0	0	0	0	0	0	0	1	0	1	3	1	3	3	3	1	3	3			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr17:63200387G>A	uc002jfe.3	+	14	1374	c.1171G>A	c.(1171-1173)Gca>Aca	p.A391T	RGS9_uc021ubw.1_Missense_Mutation_p.A388T|RGS9_uc010dem.3_Missense_Mutation_p.A388T|RGS9_uc002jfd.3_Missense_Mutation_p.A388T|RGS9_uc002jfg.3_Missense_Mutation_p.A162T	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	391	RGS.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GCTGGACGCCGCACAAACCCA	0.562													4	115					0	0	1	0	0	A	63200387	G	A	63200387	3	1	51	1	0	0	0	0	1	0	0	0	13313	1087	38	1	1229	1	RGS9	17	63200387	Missense_Mutation	SNP	G	TCGA-DH-5143-01A-01D-1468-08	27599931	63200387	17994823	48	2145											
FOXK2	3607	broad.mit.edu	37	chr17	80544072	80544072	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatggagaccacagggaagtCaaaggtaggcggaggggaaa	16	3	17	5	1	1	1	1	0	0	1	1	5	1	4	1	7	0	1	1	7	5	1	rs111240743		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr17:80544072C>G	uc002kfn.3	+	6	1743	c.1572C>G	c.(1570-1572)gtC>gtG	p.V524V	FOXK2_uc002kfm.1_Silent_p.V524V|FOXK2_uc010diu.3_Intron	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	Homo sapiens forkhead box K2 (FOXK2), mRNA.	524					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			ACAGGGAAGTCAAAGGTAGGC	0.632													3	42					0	0	1	0	0	G	80544072	C	G	80544072	2	3	51	1	0	0	0	0	0	0	0	1	6015	813	29	5		5	FOXK2	17	80544072	Silent	SNP	C	TCGA-DH-5143-01A-01D-1468-08	17343685	80544072	651138	49	2146											
CETN1	1068	broad.mit.edu	37	chr18	580651	580651	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggtggacagggaaggcacGgggaagatcagcttcaatga	13	5	17	6	1	2	2	2	1	0	1	2	6	2	5	0	6	1	2	0	6	3	1			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr18:580651G>T	uc002kko.1	+	0	283	c.243G>T	c.(241-243)acG>acT	p.T81T		NM_004066	NP_004057	Q12798	CETN1_HUMAN	Homo sapiens centrin, EF-hand protein, 1 (CETN1), mRNA.	81	EF-hand 2.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GGGAAGGCACGGGGAAGATCA	0.537													3	84					1	1	1	1	0	T	580651	G	T	580651	2	4	51	1	0	0	0	0	0	0	0	1	3274	1103	39	5		5	CETN1	18	580651	Silent	SNP	G	TCGA-DH-5143-01A-01D-1468-08		580651	77496597	50	2147											
NDUFV2	4729	broad.mit.edu	37	chr18	9134225	9134241	+	Frame_Shift_Del	DEL	CTTTGACTGAACCACCC	CTTTGACTGAACCACCC	-																															gccagctggaggtcttacctCtttgactgaaccacccaagg																										TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr18:9134225_9134241delCTTTGACTGAACCACCC	uc002knu.3	+	7	812_828	c.698_714delCTTTGACTGAACCACCC	c.(697-714)tctttgactgaaccacccfs	p.S233fs	ANKRD12_uc010wzn.2_5'Flank|ANKRD12_uc002knv.3_5'Flank|ANKRD12_uc002knw.3_5'Flank	NM_021074	NP_066552	P19404	NDUV2_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa (NDUFV2), nuclear gene encoding mitochondrial protein, mRNA.	233					cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding			breast(1)|lung(4)|ovary(1)|stomach(1)	7					NADH(DB00157)	GGTCTTACCTCTTTGACTGAACCACCCAAGGGACCTG	0.346													16	239	---	---	---	---						-	9134241	CTTTGACTGAACCACCC	-	9134225	7	5	51	1	0	1	0	1	0	0	0	0	10300	913	32	0	728	0	NDUFV2	18	9134225	Frame_Shift_Del	DEL	CTTTGACTGAACCACCC	TCGA-DH-5143-01A-01D-1468-08	8553574	9134225	68943023	51	2148											
SPIRE1	56907	broad.mit.edu	37	chr18	12493109	12493109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctctggtgatacaggcCgcagctttctttctgcttta	5	16	8	12	1	4	1	0	1	4	0	5	1	4	1	2	2	3	3	2	2	2	5			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr18:12493109C>T	uc002kre.3	-	7	1198	c.1151G>A	c.(1150-1152)cGg>cAg	p.R384Q	SPIRE1_uc002krc.3_Non-coding_Transcript|SPIRE1_uc010wzw.2_Missense_Mutation_p.R264Q|SPIRE1_uc010wzx.2_Missense_Mutation_p.R187Q|SPIRE1_uc010wzy.2_Missense_Mutation_p.R384Q	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN	Homo sapiens spire homolog 1 (Drosophila) (SPIRE1), transcript variant 1, mRNA.	384	WH2 2.					cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						TGATACAGGCCGCAGCTTTCT	0.458													13	99					0	0	1	0	0	T	12493109	C	T	12493109	3	4	51	1	0	0	0	0	1	0	0	0	15070	652	23	2	1159	2	SPIRE1	18	12493109	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08	3358884	12493109	65584139	52	2149											
CALR	811	broad.mit.edu	37	chr19	13050007	13050007	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagattttggcaaattcgttCtcagttccggcaagttctac	9	14	8	10	2	2	1	1	0	2	1	5	1	3	1	1	2	1	5	1	2	3	7			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr19:13050007C>G	uc002mvu.2	+	1	231	c.151C>G	c.(151-153)Ctc>Gtc	p.L51V		NM_004343	NP_004334	P27797	CALR_HUMAN	Homo sapiens calreticulin (CALR), mRNA.	51	N-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of DNA replication|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of phagocytosis|post-translational protein modification|protein N-linked glycosylation via asparagine|protein export from nucleus|protein maturation by protein folding|protein stabilization|regulation of apoptosis|sequestering of calcium ion	MHC class I peptide loading complex|cytosol|endoplasmic reticulum lumen|extracellular space|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	DNA binding|androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAAATTCGTTCTCAGTTCCGG	0.527											OREG0025278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	21					0	0	1	0	0	G	13050007	C	G	13050007	3	3	51	1	0	0	0	0	1	0	0	0	2592	913	32	5	157	5	CALR	19	13050007	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08		13050007	46078976	53	2150											
ZNF675	171392	broad.mit.edu	37	chr19	23837026	23837026	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggtttgagaattggttaaAagttctgtcacattcttgac	12	15	9	5	0	3	2	1	2	2	1	3	3	3	2	0	2	0	3	0	2	4	6			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr19:23837026A>C	uc002nri.3	-	3	891	c.709T>G	c.(709-711)Ttt>Gtt	p.F237V		NM_138330	NP_612203	Q8TD23	ZN675_HUMAN	Homo sapiens zinc finger protein 675 (ZNF675), mRNA.	237					I-kappaB kinase/NF-kappaB cascade|bone resorption|cytokine-mediated signaling pathway|hemopoiesis|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AATTGGTTAAAAGTTCTGTCA	0.323													5	147					0	0	1	0	0	C	23837026	A	C	23837026	3	2	51	1	0	0	0	0	1	0	0	0	18079	14	1	5	1001	5	ZNF675	19	23837026	Missense_Mutation	SNP	A	TCGA-DH-5143-01A-01D-1468-08	10787019	23837026	35291957	54	2151											
HNRNPL	3191	broad.mit.edu	37	chr19	39334685	39334685	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagagtgcaacagccagaaTagatatcagccccattgaga	15	7	9	10	0	2	4	2	1	0	4	2	5	2	4	3	0	4	1	3	0	4	3			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr19:39334685T>C	uc021uuh.1	-	4	781	c.770A>G	c.(769-771)tAt>tGt	p.Y257C	HNRNPL_uc002ojk.3_5'Flank|HNRNPL_uc002ojl.3_5'Flank|HNRNPL_uc021uui.1_Missense_Mutation_p.Y124C|HNRNPL_uc010xun.2_5'UTR	NM_001533	NP_001005335	P14866	HNRPL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein L (HNRNPL), transcript variant 1, mRNA.	257	RRM 2.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			ACAGCCAGAATAGATATCAGC	0.517													19	190					0	0	1	0	0	C	39334685	T	C	39334685	3	2	51	1	0	0	0	0	1	0	0	0	7270	1406	49	3	1035	3	HNRNPL	19	39334685	Missense_Mutation	SNP	T	TCGA-DH-5143-01A-01D-1468-08	15497659	39334685	19794298	55	2152											
ADAMTS5	11096	broad.mit.edu	37	chr21	28327096	28327096	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggctgcgtggaggccaTcgtcttcaatcacagcacag	10	8	12	11	2	3	1	2	1	1	0	4	2	3	2	1	3	2	2	1	3	2	1			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr21:28327096T>C	uc002ymg.3	-	1	1928	c.1199A>G	c.(1198-1200)gAt>gGt	p.D400G		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	400	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GTGGAGGCCATCGTCTTCAAT	0.517													7	152					0	0	1	0	0	C	28327096	T	C	28327096	3	2	51	1	0	0	0	0	1	0	0	0	269	1435	50	3	1621	3	ADAMTS5	21	28327096	Missense_Mutation	SNP	T	TCGA-DH-5143-01A-01D-1468-08		28327096	19802799	56	2153											
TRABD	80305	broad.mit.edu	37	chr22	50636413	50636413	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgcctcgagctgcctcGggcctctgacggtgacggcc	3	6	16	16	6	1	2	0	2	1	0	3	3	1	2	4	4	2	1	4	4	0	0			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr22:50636413G>A	uc003bjs.1	+	7	938	c.833G>A	c.(832-834)cGg>cAg	p.R278Q	TRABD_uc003bjr.2_Missense_Mutation_p.R162Q|SELO_uc021wry.1_5'Flank	NM_025204	NP_079480	Q9H4I3	TRABD_HUMAN	Homo sapiens TraB domain containing (TRABD), mRNA.	278										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		GAGCTGCCTCGGGCCTCTGAC	0.697													35	58					0	0	1	0	0	A	50636413	G	A	50636413	3	1	51	1	0	0	0	0	1	0	0	0	16432	1116	39	2	859	2	TRABD	22	50636413	Missense_Mutation	SNP	G	TCGA-DH-5143-01A-01D-1468-08		50636413	668153	57	2154											
DIAPH2	1730	broad.mit.edu	37	chrX	96639008	96639008	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagaaaagttagaacgccAgaagaaaaagaaacaactca	24	3	7	7	1	1	5	1	0	0	5	1	5	1	5	1	0	3	1	1	0	10	1			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chrX:96639008A>T	uc004efu.4	+	24	3506	c.3110A>T	c.(3109-3111)cAg>cTg	p.Q1037L	DIAPH2_uc004eft.4_Missense_Mutation_p.Q1037L	NM_006729	NP_006720	O60879	DIAP2_HUMAN	Homo sapiens diaphanous homolog 2 (Drosophila) (DIAPH2), transcript variant 156, mRNA.	1037					cell differentiation|cytokinesis|multicellular organismal development|oogenesis	Golgi apparatus|cytosol|early endosome|mitochondrion|nucleolus	Rho GTPase binding|receptor binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TTAGAACGCCAGAAGAAAAAG	0.313													4	51					0	0	1	0	0	T	96639008	A	T	96639008	3	4	51	1	0	0	0	0	1	0	0	0	4519	188	7	5	3208	5	DIAPH2	23	96639008	Missense_Mutation	SNP	A	TCGA-DH-5143-01A-01D-1468-08		96639008	58631552	58	2155											
MID2	11043	broad.mit.edu	37	chrX	107084365	107084365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaaaaacatgcatcacctGtgaggtctcctactgtgacc	12	10	8	11	0	2	2	1	2	1	0	3	2	2	2	3	1	3	2	3	1	4	2			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chrX:107084365G>A	uc004enl.3	+	1	1043	c.470G>A	c.(469-471)tGt>tAt	p.C157Y	MID2_uc004enk.3_Missense_Mutation_p.C157Y	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.	157						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGCATCACCTGTGAGGTCTCC	0.562													20	26					0	0	1	0	0	A	107084365	G	A	107084365	3	1	51	1	0	0	0	0	1	0	0	0	9578	1377	48	3	476	3	MID2	23	107084365	Missense_Mutation	SNP	G	TCGA-DH-5143-01A-01D-1468-08	10445357	107084365	48186195	59	2156											
HIVEP3	59269	broad.mit.edu	37	chr1	42048832	42048832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggtgctgatagtgcaggcgGcagaaggcattgagtggctt	8	9	18	6	1	0	3	0	2	0	1	0	3	0	3	0	5	2	5	0	5	2	3			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr1:42048832G>A	uc001cgz.4	-	3	2850	c.1637C>T	c.(1636-1638)gCc>gTc	p.A546V	HIVEP3_uc001cha.4_Missense_Mutation_p.A546V|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	546	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGTGCAGGCGGCAGAAGGCAT	0.602													3	33					0	0	0.004672	0	0	A	42048832	G	A	42048832	3	1	52	1	0	0	0	0	1	0	0	0	7188	1203	42	3	5607	3	HIVEP3	1	42048832	Missense_Mutation	SNP	G	TCGA-DH-5144-01A-01D-1468-08		42048832	207201789	1	2157											
FUBP1	8880	broad.mit.edu	37	chr1	78429848	78429848	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcgggtgttgtcccatcatCttcaaaacaaagaaacaaaa	16	10	6	9	1	3	1	2	0	1	1	5	1	4	1	1	1	2	1	1	1	6	3			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr1:78429848C>T	uc001dii.3	-	12	1030	c.941_splice	c.e12-1	p.D314_splice	FUBP1_uc001dih.4_Splice_Site|FUBP1_uc010orm.2_Splice_Site_p.D335_splice	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	314	KH 3.				transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GTCCCATCATCTTCAAAACAA	0.363			"F, N"		oligodendroglioma								136	20					0	0	0.00361	0	0	T	78429848	C	T	78429848	5	4	52	1	0	0	0	0	0	0	1	0	6092	927	32	3	1030	3	FUBP1	1	78429848	Splice_Site	SNP	C	TCGA-DH-5144-01A-01D-1468-08	36381016	78429848	170820773	2	2158											
PREB	10113	broad.mit.edu	37	chr2	27355105	27355105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caatgtctcacacctgacatCgaggcaggagacgacttcat	12	8	9	12	2	2	2	2	1	1	1	4	5	2	2	1	2	0	1	1	2	1	1			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr2:27355105C>T	uc002rix.1	-	5	1172	c.919G>A	c.(919-921)Gat>Aat	p.D307N	PREB_uc002riy.1_Missense_Mutation_p.D235N	NM_013388	NP_037520	Q9HCU5	PREB_HUMAN	Homo sapiens prolactin regulatory element binding (PREB), mRNA.	307					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTGACATCGAGGCAGGAG	0.617													114	177					0	0	0.00361	0	0	T	27355105	C	T	27355105	3	4	52	1	0	0	0	0	1	0	0	0	12470	884	31	2	350	2	PREB	2	27355105	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08		27355105	215844268	3	2159											
TMEM131	23505	broad.mit.edu	37	chr2	98426153	98426153	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgtattaatggtcttactgGaaaggaaggtggaagaacca	14	10	13	4	0	1	1	0	0	1	1	1	4	1	4	1	5	2	1	1	5	7	3			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr2:98426153G>A	uc002syh.4	-	18	2282	c.2053C>T	c.(2053-2055)Cca>Tca	p.P685S		NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	685						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GGTCTTACTGGAAAGGAAGGT	0.423													3	39					0	0	0.004672	0	0	A	98426153	G	A	98426153	3	1	52	1	0	0	0	0	1	0	0	0	16041	1174	41	3	3690	3	TMEM131	2	98426153	Missense_Mutation	SNP	G	TCGA-DH-5144-01A-01D-1468-08	71071048	98426153	144773220	4	2160											
ZSWIM2	151112	broad.mit.edu	37	chr2	187712478	187712478	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttacaaagttcccctcctttCggaaatgtggaacagttaca	12	12	7	10	1	0	0	0	0	0	0	3	2	2	2	3	2	3	2	3	2	5	4			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr2:187712478C>T	uc002upu.1	-	1	250	c.210G>A	c.(208-210)ccG>ccA	p.P70P		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	70					apoptosis		zinc ion binding	p.P70Q(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CCCCTCCTTTCGGAAATGTGG	0.353													6	205					0	0	0.00308	0	0	T	187712478	C	T	187712478	2	4	52	1	0	0	0	0	0	0	0	1	18238	871	31	2		2	ZSWIM2	2	187712478	Silent	SNP	C	TCGA-DH-5144-01A-01D-1468-08	89286325	187712478	55486895	5	2161											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								70	79					0	0	0.00361	0	0	T	209113112	C	T	209113112	3	4	52	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	21400634	209113112	34086261	6	2162											
MKRN2	23609	broad.mit.edu	37	chr3	12613687	12613687	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacctggatgccatcaggAgtggccttgatgacgtggag	8	9	14	10	1	1	2	1	2	0	0	1	5	1	5	4	4	2	0	4	4	1	2			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr3:12613687A>G	uc003bxd.3	+	3	513	c.457A>G	c.(457-459)Agt>Ggt	p.S153G	MKRN2_uc011aus.2_Missense_Mutation_p.S110G	NM_014160	NP_054879	Q9H000	MKRN2_HUMAN	Homo sapiens makorin ring finger protein 2 (MKRN2), mRNA.	153						intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						TGCCATCAGGAGTGGCCTTGA	0.627													54	50					0	0	0.00361	0	0	G	12613687	A	G	12613687	3	3	52	1	0	0	0	0	1	0	0	0	9607	304	11	4	471	4	MKRN2	3	12613687	Missense_Mutation	SNP	A	TCGA-DH-5144-01A-01D-1468-08		12613687	185408743	7	2163											
TTC21A	199223	broad.mit.edu	37	chr3	39170636	39170636	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaagagaaccgcatcaccaTtgccaacgtggacttggtcc	12	7	10	12	2	1	2	1	0	0	2	2	4	2	3	4	2	3	1	4	2	3	2			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr3:39170636T>C	uc003cjc.2	+	14	2168	c.1991T>C	c.(1990-1992)aTt>aCt	p.I664T	TTC21A_uc011ayx.1_Missense_Mutation_p.I616T|TTC21A_uc003cjd.2_Non-coding_Transcript	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	664							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CGCATCACCATTGCCAACGTG	0.522													70	82					0	0	0.00361	0	0	C	39170636	T	C	39170636	3	2	52	1	0	0	0	0	1	0	0	0	16684	1493	52	3	2052	3	TTC21A	3	39170636	Missense_Mutation	SNP	T	TCGA-DH-5144-01A-01D-1468-08	26556949	39170636	158851794	8	2164											
NBEAL2	23218	broad.mit.edu	37	chr3	47041457	47041457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcaagatgtgctgaccCggctatatgtcctggaggct	7	10	14	10	1	0	2	0	1	0	1	1	3	1	3	2	4	1	5	2	4	3	2			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr3:47041457C>T	uc003cqp.3	+	26	4047	c.3868C>T	c.(3868-3870)Cgg>Tgg	p.R1290W	NBEAL2_uc010hjm.2_Intron|NBEAL2_uc010hjn.2_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1290							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TGTGCTGACCCGGCTATATGT	0.637													3	30					0	0	0.004672	0	0	T	47041457	C	T	47041457	3	4	52	1	0	0	0	0	1	0	0	0	10189	643	23	2	3974	2	NBEAL2	3	47041457	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	7870821	47041457	150980973	9	2165											
ALPK1	80216	broad.mit.edu	37	chr4	113356325	113356326	+	Frame_Shift_Ins	INS	-	-	A																															gctcttttgttaaaatattcINSaaaaaaatctgaactgtgga																										TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr4:113356325_113356326insA	uc003ian.4	+	11	3283_3284	c.3056_3057insA	c.(3055-3057)tcafs	p.S1019fs	ALPK1_uc003iap.4_Frame_Shift_Ins_p.S1019fs|ALPK1_uc011cfx.2_Frame_Shift_Ins_p.S941fs|ALPK1_uc003iao.4_Non-coding_Transcript|ALPK1_uc010imo.3_Frame_Shift_Ins_p.S847fs	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	1019	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TTAAAATATTCAAAAAAATCTG	0.356													9	540	---	---	---	---						A	113356326	-	A	113356325	7	5	52	1	0	1	1	0	0	0	0	0	544	838	29	0	3094	0	ALPK1	4	113356325	Frame_Shift_Ins	INS	-	TCGA-DH-5144-01A-01D-1468-08		113356325	77797951	10	2166											
BBS7	55212	broad.mit.edu	37	chr4	122776708	122776708	+	Frame_Shift_Del	DEL	A	A	-																															acttcaactgcatacatcacAtcagatccctgaaggagaag																										TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr4:122776708delA	uc003ied.3	-	5	721	c.537delT	c.(535-537)gatfs	p.D179fs	BBS7_uc003iee.2_Frame_Shift_Del_p.D179fs	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Homo sapiens Bardet-Biedl syndrome 7 (BBS7), transcript variant 1, mRNA.	179					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CATACATCACATCAGATCCCT	0.348									Bardet-Biedl syndrome				15	297	---	---	---	---						-	122776708	A	-	122776708	7	5	52	1	0	1	0	1	0	0	0	0	1341	214	8	0	1671	0	BBS7	4	122776708	Frame_Shift_Del	DEL	A	TCGA-DH-5144-01A-01D-1468-08	9420383	122776708	68377568	11	2167											
FBXL7	23194	broad.mit.edu	37	chr5	15937211	15937211	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgctgaatgtccaggactgCgaggtctccgtggaggccct	7	8	14	12	3	1	1	0	1	1	0	3	4	2	3	3	4	1	1	3	4	1	0			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr5:15937211C>T	uc003jfn.1	+	3	1873	c.1392C>T	c.(1390-1392)tgC>tgT	p.C464C		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA.	464					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TCCAGGACTGCGAGGTCTCCG	0.607													18	46					0	0	0.006122	0	0	T	15937211	C	T	15937211	2	4	52	1	0	0	0	0	0	0	0	1	5724	776	27	1		1	FBXL7	5	15937211	Silent	SNP	C	TCGA-DH-5144-01A-01D-1468-08		15937211	164978049	12	2168											
MTX3	345778	broad.mit.edu	37	chr5	79282781	79282781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccagcttacctccaagaCtaagcctaaaataactgctc	14	8	6	13	0	0	1	0	0	0	1	2	2	1	1	4	0	6	2	4	0	6	4			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr5:79282781C>T	uc010jag.3	-	6	758	c.731G>A	c.(730-732)aGt>aAt	p.S244N	MTX3_uc010jah.3_Missense_Mutation_p.S244N|MTX3_uc003kge.4_Missense_Mutation_p.S183N|MTX3_uc003kgf.1_Non-coding_Transcript	NM_001167741	NP_001161213	Q5HYI7	MTX3_HUMAN	Homo sapiens metaxin 3 (MTX3), transcript variant 1, mRNA.	244					protein targeting to mitochondrion	mitochondrial outer membrane				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		ACCTCCAAGACTAAGCCTAAA	0.363													7	147					0	0	0.004482	0	0	T	79282781	C	T	79282781	3	4	52	1	0	0	0	0	1	0	0	0	9969	565	20	3	219	3	MTX3	5	79282781	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	63345570	79282781	101632479	13	2169											
VPS52	6293	broad.mit.edu	37	chr6	33235064	33235064	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcctagggtgaaaatggtGttcctgctgcggagcgatgg	7	11	16	7	2	0	1	0	1	0	0	2	3	2	2	2	4	3	3	2	4	3	3			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr6:33235064G>A	uc003odm.1	-	10	1236	c.1026C>T	c.(1024-1026)aaC>aaT	p.N342N	VPS52_uc003odn.1_Intron	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	Homo sapiens vacuolar protein sorting 52 homolog (S. cerevisiae) (VPS52), mRNA.	342					protein transport	Golgi apparatus|endosome membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TGAAAATGGTGTTCCTGCTGC	0.562													63	98					0	0	0.00361	0	0	A	33235064	G	A	33235064	2	1	52	1	0	0	0	0	0	0	0	1	17211	1368	48	3		3	VPS52	6	33235064	Silent	SNP	G	TCGA-DH-5144-01A-01D-1468-08		33235064	137880003	14	2170											
TEAD3	7005	broad.mit.edu	37	chr6	35446212	35446212	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgggacccatgtaccCgcgaggaagtggagaagacg	10	5	14	12	3	0	2	0	0	0	2	1	6	1	4	4	3	1	1	4	3	3	1			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr6:35446212C>T	uc003oku.4	-	6	716	c.480_splice	c.e6+1	p.R160_splice	TEAD3_uc003okt.3_Splice_Site_p.R49_splice|TEAD3_uc010jvx.3_Splice_Site_p.R100_splice	NM_003214	NP_003205	Q99594	TEAD3_HUMAN	Homo sapiens TEA domain family member 3 (TEAD3), mRNA.	160	Pro-rich.				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						CCCATGTACCCGCGAGGAAGT	0.617													3	44					0	0	0.000602	0	0	T	35446212	C	T	35446212	5	4	52	1	0	0	0	0	0	0	1	0	15737	666	23	2	860	2	TEAD3	6	35446212	Splice_Site	SNP	C	TCGA-DH-5144-01A-01D-1468-08	2211148	35446212	135668855	15	2171											
MRPL2	51069	broad.mit.edu	37	chr6	43023893	43023893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctgtggcgatgatccagCgtttccggctgcccccagca	5	11	11	14	3	1	1	0	1	1	0	3	2	3	1	4	2	3	3	4	2	0	2			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr6:43023893C>T	uc003ots.1	-	3	569	c.446G>A	c.(445-447)cGc>cAc	p.R149H	CUL7_uc003otq.3_5'Flank|CUL7_uc011dvb.2_5'Flank|KLC4_uc003otr.1_Intron|MRPL2_uc011dvc.2_Missense_Mutation_p.R149H	NM_015950	NP_057034	Q5T653	RM02_HUMAN	Homo sapiens mitochondrial ribosomal protein L2 (MRPL2), nuclear gene encoding mitochondrial protein, mRNA.	149					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		GATGATCCAGCGTTTCCGGCT	0.537													50	75					0	0	0.00361	0	0	T	43023893	C	T	43023893	3	4	52	1	0	0	0	0	1	0	0	0	9785	768	27	1	487	1	MRPL2	6	43023893	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	7577681	43023893	128091174	16	2172											
ZNF425	155054	broad.mit.edu	37	chr7	148801188	148801188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgagctgagactgatgcGtgtaggtcttgtcacactca	8	11	13	9	2	3	3	2	3	1	1	3	4	3	3	0	2	2	2	0	2	1	2			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr7:148801188G>A	uc003wfj.3	-	3	1908	c.1775C>T	c.(1774-1776)aCg>aTg	p.T592M		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	592					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AGACTGATGCGTGTAGGTCTT	0.577													8	165					0	0	0.006214	0	0	A	148801188	G	A	148801188	3	1	52	1	0	0	0	0	1	0	0	0	17896	1145	40	1	487	1	ZNF425	7	148801188	Missense_Mutation	SNP	G	TCGA-DH-5144-01A-01D-1468-08		148801188	10337475	17	2173											
DPYSL2	1808	broad.mit.edu	37	chr8	26484191	26484191	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgcttccagctaacggattgCcaggtaagaaagtcggcttt	10	10	11	10	3	0	1	0	0	0	1	2	2	1	2	2	3	3	4	2	3	3	5			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr8:26484191C>T	uc003xfb.2	+	4	968	c.537C>T	c.(535-537)tgC>tgT	p.C179C	DPYSL2_uc003xfa.3_Silent_p.C284C|DPYSL2_uc011lag.2_Silent_p.C179C|DPYSL2_uc011lah.2_Silent_p.C143C	NM_001386	NP_001377	Q16555	DPYL2_HUMAN	Homo sapiens dihydropyrimidinase-like 2 (DPYSL2), transcript variant 2, mRNA.	179					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	p.C179Y(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		TAACGGATTGCCAGGTAAGAA	0.463													6	236					0	0	0.006214	0	0	T	26484191	C	T	26484191	2	4	52	1	0	0	0	0	0	0	0	1	4747	747	26	3		3	DPYSL2	8	26484191	Silent	SNP	C	TCGA-DH-5144-01A-01D-1468-08		26484191	119879831	18	2174											
NOTCH1	4851	broad.mit.edu	37	chr9	139418369	139418369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcatgtcccggcgttcttgCagggggtgctgaggcacggg	4	8	19	10	3	1	1	0	1	1	0	2	1	2	1	1	6	2	5	1	6	0	2			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr9:139418369C>T	uc004chz.3	-	2	203	c.203G>A	c.(202-204)tGc>tAc	p.C68Y		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	68	EGF-like 2.				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCGTTCTTGCAGGGGGTGCT	0.677			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			3	14					0	0	0.004672	0	0	T	139418369	C	T	139418369	3	4	52	1	0	0	0	0	1	0	0	0	10547	710	25	3	7592	3	NOTCH1	9	139418369	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08		139418369	1795062	19	2175											
ZMYND11	10771	broad.mit.edu	37	chr10	285431	285431	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagttcaaagctgatgcccaAttgcttctccacaataccgt	11	11	7	12	1	2	1	1	1	1	0	3	2	2	1	3	0	4	3	3	0	4	4			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr10:285431A>G	uc010pzu.2	+	6	1004	c.663A>G	c.(661-663)caA>caG	p.Q221Q	ZMYND11_uc001ifk.3_Silent_p.Q221Q|ZMYND11_uc010pzv.2_Silent_p.Q167Q|ZMYND11_uc010pzw.2_Silent_p.Q136Q|ZMYND11_uc001ifm.3_Silent_p.Q167Q|ZMYND11_uc010pzx.2_Silent_p.Q221Q|ZMYND11_uc001ifn.3_Silent_p.Q167Q|ZMYND11_uc009xhg.3_Silent_p.Q204Q|ZMYND11_uc010pzy.2_Intron|ZMYND11_uc009xhh.3_Silent_p.Q121Q	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	Homo sapiens zinc finger, MYND-type containing 11 (ZMYND11), transcript variant 1, mRNA.	181					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTGATGCCCAATTGCTTCTCC	0.348													83	138					0	0	0.00361	0	0	G	285431	A	G	285431	2	3	52	1	0	0	0	0	0	0	0	1	17703	98	4	3		3	ZMYND11	10	285431	Silent	SNP	A	TCGA-DH-5144-01A-01D-1468-08		285431	135249316	20	2176											
LRRC4C	57689	broad.mit.edu	37	chr11	40136683	40136683	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgactgttccatttggagtaAtccaagatacagatgtcagg	12	12	10	7	0	1	3	1	1	0	2	3	4	3	4	2	2	1	2	2	2	3	4			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr11:40136683A>G	uc021qgf.1	-	0	1160	c.1160T>C	c.(1159-1161)aTt>aCt	p.I387T	LRRC4C_uc001mxc.1_Missense_Mutation_p.I383T|LRRC4C_uc001mxd.1_Missense_Mutation_p.I383T|LRRC4C_uc001mxa.1_Missense_Mutation_p.I387T|LRRC4C_uc001mxb.1_Missense_Mutation_p.I383T	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	387	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ATTTGGAGTAATCCAAGATAC	0.493													179	161					0	0	0.00361	0	0	G	40136683	A	G	40136683	3	3	52	1	0	0	0	0	1	0	0	0	9008	101	4	3	766	3	LRRC4C	11	40136683	Missense_Mutation	SNP	A	TCGA-DH-5144-01A-01D-1468-08		40136683	94869833	21	2177											
CFL1	1072	broad.mit.edu	37	chr11	65623202	65623202	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcgcagactcgggggccCtggacagaaacacgcgtcag	9	3	17	12	4	1	2	1	0	0	2	2	3	1	3	1	5	1	1	1	5	1	0			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr11:65623202C>T	uc001ofs.3	-	3	843	c.312_splice	c.e3-1	p.W104_splice	CFL1_uc001oft.3_Splice_Site_p.W104_splice	NM_005507	NP_005498	P23528	COF1_HUMAN	Homo sapiens cofilin 1 (non-muscle) (CFL1), mRNA.	104	ADF-H.				Rho protein signal transduction|actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		CTCGGGGGCCCTGGACAGAAA	0.542													6	84					0	0	0.001168	0	0	T	65623202	C	T	65623202	5	4	52	1	0	0	0	0	0	0	1	0	3290	695	24	3	197	3	CFL1	11	65623202	Splice_Site	SNP	C	TCGA-DH-5144-01A-01D-1468-08	25486519	65623202	69383314	22	2178											
ARNTL2	56938	broad.mit.edu	37	chr12	27542188	27542188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtaaaggaacaactttcttCttttgatatttcaccaagag	14	14	6	7	0	3	2	1	1	2	1	3	3	3	3	1	1	2	1	1	1	6	7			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr12:27542188C>T	uc001rht.2	+	7	953	c.734C>T	c.(733-735)tCt>tTt	p.S245F	ARNTL2_uc001rhu.2_Missense_Mutation_p.S231F|ARNTL2_uc001rhv.2_Missense_Mutation_p.S197F|ARNTL2_uc001rhw.3_Missense_Mutation_p.S208F|ARNTL2_uc010sjp.2_Missense_Mutation_p.S208F|ARNTL2_uc009zji.2_Missense_Mutation_p.S211F	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like 2 (ARNTL2), transcript variant 1, mRNA.	245	PAS 1.				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					CAACTTTCTTCTTTTGATATT	0.323													55	104					0	0	0.00361	0	0	T	27542188	C	T	27542188	3	4	52	1	0	0	0	0	1	0	0	0	968	913	32	3	764	3	ARNTL2	12	27542188	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08		27542188	106309707	23	2179											
KRT86	3892	broad.mit.edu	37	chr12	52698737	52698737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtggactgcgcctacctcCgcaaatcagacctggaggcc	9	7	11	14	2	1	1	1	0	0	1	2	3	2	3	5	3	2	1	5	3	2	1			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr12:52698737C>T	uc010snq.2	+	4	794	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C	KRT86_uc009zmg.3_Missense_Mutation_p.R221C|KRT81_uc001sac.3_Intron|KRT86_uc001sad.3_Missense_Mutation_p.R221C	NM_002284	NP_002275	O43790	KRT86_HUMAN	Homo sapiens keratin 86 (KRT86), mRNA.	221	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		CGCCTACCTCCGCAAATCAGA	0.597													175	213					0	0	0.00361	0	0	T	52698737	C	T	52698737	3	4	52	1	0	0	0	0	1	0	0	0	8500	652	23	2	675	2	KRT86	12	52698737	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	25156549	52698737	81153158	24	2180											
ESPL1	9700	broad.mit.edu	37	chr12	53680351	53680351	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttgggccctcacaaaactAggtggcctcagctgctgtac	9	10	10	12	0	2	0	2	0	0	0	2	0	2	0	2	3	4	3	2	3	4	3			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr12:53680351A>G	uc001sck.2	+	17	3922	c.3831A>G	c.(3829-3831)ctA>ctG	p.L1277L	ESPL1_uc001scj.2_Silent_p.L952L|ESPL1_uc010soe.1_Intron	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	1277					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCACAAAACTAGGTGGCCTCA	0.542													120	121					0	0	0.00361	0	0	G	53680351	A	G	53680351	2	3	52	1	0	0	0	0	0	0	0	1	5253	407	15	4		4	ESPL1	12	53680351	Silent	SNP	A	TCGA-DH-5144-01A-01D-1468-08	981614	53680351	80171544	25	2181											
PXN	5829	broad.mit.edu	37	chr12	120657315	120657315	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctgggaagatggcctgccGgtccactgccactacagctg	8	8	12	13	1	1	1	0	0	1	1	2	2	2	2	4	3	4	1	4	3	2	1			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr12:120657315G>A	uc001tya.3	-	0		c.606C>T			PXN_uc001txu.3_5'Flank|PXN_uc001txx.3_Intron|PXN_uc001txt.3_Intron|PXN_uc001txv.3_Intron|PXN_uc001txy.3_Intron|PXN_uc001txz.3_Non-coding_Transcript			P49023	PAXI_HUMAN	Homo sapiens cDNA: FLJ23042 fis, clone LNG02323.						cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATGGCCTGCCGGTCCACTGCC	0.617													5	2					0	0	0.008291	0	0	A	120657315	G	A	120657315	1	1	52	0	1	0	0	0	0	0	0	0	12852	1131	39	2		2	PXN	12	120657315	RNA	SNP	G	TCGA-DH-5144-01A-01D-1468-08	66976964	120657315	13194580	26	2182											
SETD8	387893	broad.mit.edu	37	chr12	123875277	123875277	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagagaactcagttacacAtcacgaagtcaaatgccagg	16	6	10	9	1	3	1	3	0	0	1	3	4	3	2	1	2	3	1	1	2	5	1			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr12:123875277A>G	uc001uew.3	+	2	275	c.233A>G	c.(232-234)cAt>cGt	p.H78R		NM_020382	NP_065115	Q9NQR1	SETD8_HUMAN	Homo sapiens SET domain containing (lysine methyltransferase) 8 (SETD8), mRNA.	119					cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		TCAGTTACACATCACGAAGTC	0.483													7	180					0	0	0.001984	0	0	G	123875277	A	G	123875277	3	3	52	1	0	0	0	0	1	0	0	0	14137	217	8	3	243	3	SETD8	12	123875277	Missense_Mutation	SNP	A	TCGA-DH-5144-01A-01D-1468-08	3217962	123875277	9976618	27	2183											
CTSG	1511	broad.mit.edu	37	chr14	25043477	25043477	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagccttccgttcccgccGgtcccccacacaaatctgcc	6	7	8	20	3	1	0	0	0	1	0	4	0	4	0	7	2	2	2	7	2	1	2			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr14:25043477G>A	uc001wpq.3	-	3	605	c.568C>T	c.(568-570)Cgg>Tgg	p.R190W		NM_001911	NP_001902	P08311	CATG_HUMAN	Homo sapiens cathepsin G (CTSG), mRNA.	190	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	p.D189G(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CGTTCCCGCCGGTCCCCCACA	0.617													37	44					0	0	0.00623	0	0	A	25043477	G	A	25043477	3	1	52	1	0	0	0	0	1	0	0	0	4035	1115	39	2	207	2	CTSG	14	25043477	Missense_Mutation	SNP	G	TCGA-DH-5144-01A-01D-1468-08		25043477	82306063	28	2184											
EXOC5	10640	broad.mit.edu	37	chr14	57684716	57684716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgcctatcaatgccagtatCcaatttcatctccatttgtt	9	17	4	11	0	3	0	2	0	1	0	5	0	4	0	4	0	2	2	4	0	4	6			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr14:57684716C>T	uc001xct.3	-	14	1848	c.1597G>A	c.(1597-1599)Gat>Aat	p.D533N	EXOC5_uc001xcs.3_Missense_Mutation_p.D212N|EXOC5_uc010trg.2_Missense_Mutation_p.D478N|EXOC5_uc010trh.2_Missense_Mutation_p.D468N	NM_006544	NP_006535	O00471	EXOC5_HUMAN	Homo sapiens exocyst complex component 5 (EXOC5), mRNA.	533					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						ATGCCAGTATCCAATTTCATC	0.294													43	56					0	0	0.002852	0	0	T	57684716	C	T	57684716	3	4	52	1	0	0	0	0	1	0	0	0	5307	855	30	3	545	3	EXOC5	14	57684716	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	32641239	57684716	49664824	29	2185											
MAX	4149	broad.mit.edu	37	chr14	65544747	65544747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtctaggatttgggccCgggatgcctgtggcaatatg	6	13	14	8	1	1	0	0	0	1	0	1	2	1	2	2	4	1	1	2	4	3	4			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr14:65544747C>T	uc001xif.1	-	3	349	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	MAX_uc001xic.1_Intron|MAX_uc001xie.1_Missense_Mutation_p.R60Q|MAX_uc001xig.1_Missense_Mutation_p.R51Q|MAX_uc001xih.1_Non-coding_Transcript|MAX_uc001xii.1_Missense_Mutation_p.R51Q|MAX_uc001xij.1_Missense_Mutation_p.R60Q	NM_002382	NP_002373	P61244	MAX_HUMAN	Homo sapiens MYC associated factor X (MAX), transcript variant 1, mRNA.	60	Helix-loop-helix motif.				transcription from RNA polymerase II promoter	MLL1 complex|cytoplasm	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R60Q(8)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GATTTGGGCCCGGGATGCCTG	0.498													51	66					0	0	0.00361	0	0	T	65544747	C	T	65544747	3	4	52	1	0	0	0	0	1	0	0	0	9339	652	23	2	527	2	MAX	14	65544747	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	7860031	65544747	41804793	30	2186											
ADAM20	8748	broad.mit.edu	37	chr14	70989595	70989595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgtgacagatgaaccataCtggcacacttcttacggatg	11	11	9	10	1	1	3	0	2	1	1	1	4	1	4	1	2	3	1	1	2	3	4			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr14:70989595C>T	uc021rvs.1	-	0	2030	c.2030G>A	c.(2029-2031)aGt>aAt	p.S677N	ADAM20_uc001xme.3_Missense_Mutation_p.S677N	NM_003814	NP_003805	O43506	ADA20_HUMAN	Homo sapiens ADAM metallopeptidase domain 20 (ADAM20), mRNA.	627					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		ATGAACCATACTGGCACACTT	0.463													249	371					0	0	0.00361	0	0	T	70989595	C	T	70989595	3	4	52	1	0	0	0	0	1	0	0	0	242	565	20	3	304	3	ADAM20	14	70989595	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	5444848	70989595	36359945	31	2187											
DYX1C1	161582	broad.mit.edu	37	chr15	55731774	55731774	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtgcctcagcttgtttgtgTagccactagaatgagaaaga	11	11	11	8	1	1	3	1	1	0	3	1	4	1	3	2	0	3	3	2	0	4	4			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr15:55731774T>C	uc002adc.3	-	6	1157	c.789A>G	c.(787-789)ctA>ctG	p.L263L	CCPG1_uc002acy.3_5'UTR|CCPG1_uc010ugh.1_Non-coding_Transcript|CCPG1_uc010ugi.2_Non-coding_Transcript|DYX1C1_uc002adb.3_Silent_p.L263L|DYX1C1_uc002add.3_Silent_p.L263L	NM_130810	NP_570722	Q8WXU2	DYXC1_HUMAN	Homo sapiens dyslexia susceptibility 1 candidate 1 (DYX1C1), transcript variant 1, mRNA.	263					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		CTTGTTTGTGTAGCCACTAGA	0.343													11	71					0	0	0.006122	0	0	C	55731774	T	C	55731774	2	2	52	1	0	0	0	0	0	0	0	1	4862	1625	57	3		3	DYX1C1	15	55731774	Silent	SNP	T	TCGA-DH-5144-01A-01D-1468-08		55731774	46799618	32	2188											
TEX9	374618	broad.mit.edu	37	chr15	56686922	56686922	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaagattttatgagacagCagcgaacaattaatatgcaa	19	9	8	5	1	0	3	0	1	0	3	0	5	0	3	0	0	4	2	0	0	8	4			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr15:56686922C>G	uc002adp.3	+	8	723	c.718C>G	c.(718-720)Cag>Gag	p.Q240E	TEX9_uc010ugl.2_Missense_Mutation_p.Q165E|TEX9_uc002adq.1_Missense_Mutation_p.Q165E	NM_198524	NP_940926	Q8N6V9	TEX9_HUMAN	Homo sapiens testis expressed 9 (TEX9), mRNA.	240										cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		TATGAGACAGCAGCGAACAAT	0.284													12	71					0	0	0.000978	0	0	G	56686922	C	G	56686922	3	3	52	1	0	0	0	0	1	0	0	0	15781	711	25	5	752	5	TEX9	15	56686922	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	955148	56686922	45844470	33	2189											
CNOT1	23019	broad.mit.edu	37	chr16	58622799	58622799	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgtctgcctcaggaccgtgCcgattcacaatctaaaatga	11	10	8	12	2	4	1	2	1	2	0	4	3	4	2	3	1	2	0	3	1	3	2			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr16:58622799C>T	uc002env.3	-	2	407	c.114G>A	c.(112-114)cgG>cgA	p.R38R	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Silent_p.R38R|CNOT1_uc002enx.3_Silent_p.R38R|CNOT1_uc002enz.1_5'UTR	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	38					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.R38R(3)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAGGACCGTGCCGATTCACAA	0.373													3	46					0	0	0.004672	0	0	T	58622799	C	T	58622799	2	4	52	1	0	0	0	0	0	0	0	1	3617	726	26	3		3	CNOT1	16	58622799	Silent	SNP	C	TCGA-DH-5144-01A-01D-1468-08		58622799	31731954	34	2190											
HEATR6	63897	broad.mit.edu	37	chr17	58133572	58133572	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggcttgagtcattgaaaaGtagccccttgccagaagagt	12	10	11	8	0	1	4	1	2	0	2	1	4	1	4	3	1	2	2	3	1	5	5			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr17:58133572G>A	uc002iyk.1	-	12	2123	c.2106C>T	c.(2104-2106)taC>taT	p.Y702Y	HEATR6_uc010ddk.1_Silent_p.Y241Y|HEATR6_uc010wos.1_Intron	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA.	702							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TCATTGAAAAGTAGCCCCTTG	0.453													10	157					0	0	0.006214	0	0	A	58133572	G	A	58133572	2	1	52	1	0	0	0	0	0	0	0	1	7033	1024	36	3		3	HEATR6	17	58133572	Silent	SNP	G	TCGA-DH-5144-01A-01D-1468-08		58133572	23061638	35	2191											
AZU1	566	broad.mit.edu	37	chr19	831737	831737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacgggggcacccccctcGtctgcgagggcctggcccac	4	4	16	17	3	1	0	0	0	1	0	2	2	1	1	5	5	1	1	5	5	0	0			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr19:831737G>A	uc002lpz.1	+	4	632	c.616G>A	c.(616-618)Gtc>Atc	p.V206I		NM_001700	NP_001691	P20160	CAP7_HUMAN	Homo sapiens azurocidin 1 (AZU1), mRNA.	206	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of MHC class II biosynthetic process|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CACCCCCCTCGTCTGCGAGGG	0.706													21	25					0	0	0.001523	0	0	A	831737	G	A	831737	3	1	52	1	0	0	0	0	1	0	0	0	1243	1145	40	1	634	1	AZU1	19	831737	Missense_Mutation	SNP	G	TCGA-DH-5144-01A-01D-1468-08		831737	58297246	36	2192											
CLEC4M	10332	broad.mit.edu	37	chr19	7830088	7830088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtgtcttggccatggcGccctggtgctgcaactcctc	4	10	13	14	1	1	0	0	0	1	0	3	0	2	0	3	4	3	2	3	4	1	1			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr19:7830088G>A	uc010dvt.3	+	2	266	c.148G>A	c.(148-150)Gcc>Acc	p.A50T	CLEC4M_uc010xjv.1_Intron|CLEC4M_uc002mhy.2_Intron|CLEC4M_uc002mih.3_Missense_Mutation_p.A50T|CLEC4M_uc010xjw.2_Intron|CLEC4M_uc010dvs.3_Missense_Mutation_p.A49T|CLEC4M_uc010xjx.2_Missense_Mutation_p.A22T|CLEC4M_uc002mhz.3_Missense_Mutation_p.A50T|CLEC4M_uc002mic.3_Missense_Mutation_p.A22T|CLEC4M_uc002mia.3_Intron	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	50					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	p.A50P(4)|p.G49G(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						TGGCCATGGCGCCCTGGTGCT	0.632													86	108					0	0	0.00361	0	0	A	7830088	G	A	7830088	3	1	52	1	0	0	0	0	1	0	0	0	3518	1087	38	1	158	1	CLEC4M	19	7830088	Missense_Mutation	SNP	G	TCGA-DH-5144-01A-01D-1468-08	6998351	7830088	51298895	37	2193											
ZNF506	440515	broad.mit.edu	37	chr19	19906098	19906098	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acattcttcacatttatagcGtttctctccagcatcaattt	10	17	3	11	1	4	0	2	0	2	0	6	0	5	0	1	0	2	2	1	0	3	7			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr19:19906098G>A	uc010eci.2	-	3	746	c.598C>T	c.(598-600)Cgc>Tgc	p.R200C	ZNF506_uc021urk.1_Non-coding_Transcript|ZNF506_uc002noh.3_Missense_Mutation_p.R168C	NM_001099269	NP_001092739	Q5JVG8	ZN506_HUMAN	Homo sapiens zinc finger protein 506 (ZNF506), transcript variant 1, mRNA.	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	p.R200H(1)		breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						CATTTATAGCGTTTCTCTCCA	0.338													6	109					0	0	0.001168	0	0	A	19906098	G	A	19906098	3	1	52	1	0	0	0	0	1	0	0	0	17949	1145	40	1	740	1	ZNF506	19	19906098	Missense_Mutation	SNP	G	TCGA-DH-5144-01A-01D-1468-08	12076010	19906098	39222885	38	2194											
CIC	23152	broad.mit.edu	37	chr19	42799059	42799059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttgaagatccgtgaggtgCgccagaagatcatgcaggct	11	8	14	8	2	1	5	1	2	0	3	2	5	2	5	2	2	2	3	2	2	2	1			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr19:42799059C>T	uc002otf.1	+	19	4583	c.4543C>T	c.(4543-4545)Cgc>Tgc	p.R1515C		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R1515L(1)|p.R1515H(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCGTGAGGTGCGCCAGAAGAT	0.632			"Mis, F, S"		oligodendroglioma								45	12					0	0	0.003214	0	0	T	42799059	C	T	42799059	3	4	52	1	0	0	0	0	1	0	0	0	3424	768	27	1	4621	1	CIC	19	42799059	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	22892961	42799059	16329924	39	2195											
KIF16B	55614	broad.mit.edu	37	chr20	16360615	16360615	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcctctcctcttcaaattTttccttctccgcaagtaaat	9	15	3	14	1	4	0	1	0	3	0	7	0	5	0	4	0	1	2	4	0	4	5			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr20:16360615T>C	uc002wpg.2	-	18	2191	c.2032A>G	c.(2032-2034)Aaa>Gaa	p.K678E	KIF16B_uc002wpe.1_Missense_Mutation_p.K60E|KIF16B_uc002wpf.1_Missense_Mutation_p.K60E|KIF16B_uc010gch.2_Missense_Mutation_p.K678E|KIF16B_uc010gci.2_Missense_Mutation_p.K678E|KIF16B_uc010gcj.2_Missense_Mutation_p.K689E	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	678	Glu-rich.				Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCTTCAAATTTTTCCTTCTCC	0.498													40	250					0	0	0.005524	0	0	C	16360615	T	C	16360615	3	2	52	1	0	0	0	0	1	0	0	0	8278	1850	64	3	1953	3	KIF16B	20	16360615	Missense_Mutation	SNP	T	TCGA-DH-5144-01A-01D-1468-08		16360615	46664905	40	2196											
SMC1B	27127	broad.mit.edu	37	chr22	45768073	45768073	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttcttcttaatcatctCtagttcattttgtgaatatt	8	21	5	7	0	5	1	2	1	3	0	6	1	5	1	0	0	1	2	0	0	4	9			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr22:45768073C>A	uc003bgc.3	-	12	2210	c.2158G>T	c.(2158-2160)Gag>Tag	p.E720*	SMC1B_uc003bgd.3_Nonsense_Mutation_p.E720*|SMC1B_uc003bge.1_Nonsense_Mutation_p.E503*	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	720					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTAATCATCTCTAGTTCATTT	0.348													5	173					0.00116845	0.00133806	0.001168	1	0	A	45768073	C	A	45768073	4	1	52	1	0	0	0	0	0	1	0	0	14782	922	32	5	1601	5	SMC1B	22	45768073	Nonsense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08		45768073	5536493	41	2197											
SRPX	8406	broad.mit.edu	37	chrX	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-																															gctgcggctgggcgggacgcGcagcagcagcagcagcagca																								rs72445954		TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:38079976_38079978delGCA	uc004ddy.2	-	0	200_202	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	SRPX_uc011mki.2_In_Frame_Del_p.L23del|SRPX_uc004ddz.2_In_Frame_Del_p.L23del|SRPX_uc011mkh.2_In_Frame_Del_p.L23del	NM_006307	NP_006298	P78539	SRPX_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked (SRPX), transcript variant 1, mRNA.	23			Missing.		cell adhesion	cell surface|membrane		p.L23delL(4)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	2	---	---	---	---						-	38079978	GCA	-	38079976	7	5	52	1	0	1	0	1	0	0	0	0	15163	1087	38	0	1364	0	SRPX	23	38079976	In_Frame_Del	DEL	GCA	TCGA-DH-5144-01A-01D-1468-08		38079976	117190584	42	2198											
DLG3	1741	broad.mit.edu	37	chrX	69670626	69670626	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtacgctccccctgactaCgccagcagtacgtactcatc	9	9	7	16	3	1	1	1	1	0	0	3	1	2	1	3	0	5	5	3	0	4	4			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:69670626C>T	uc004dyi.2	+	5	1325	c.978C>T	c.(976-978)taC>taT	p.Y326Y	U4_uc022byp.1_5'Flank|DLG3_uc004dyj.2_5'Flank	NM_021120	NP_066943	Q92796	DLG3_HUMAN	Homo sapiens discs, large homolog 3 (Drosophila) (DLG3), transcript variant 1, mRNA.	326					axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	p.Y326Y(2)		endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					CCCCTGACTACGCCAGCAGTA	0.532													17	104					0	0	0.001882	0	0	T	69670626	C	T	69670626	2	4	52	1	0	0	0	0	0	0	0	1	4556	547	19	1		1	DLG3	23	69670626	Silent	SNP	C	TCGA-DH-5144-01A-01D-1468-08	31590650	69670626	85599934	43	2199											
ATRX	546	broad.mit.edu	37	chrX	76949414	76949414	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagcactggctctggctgtAcaatcactgtacctagaatg	10	11	9	11	0	3	1	2	0	1	1	3	1	3	1	1	2	3	5	1	2	5	3			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:76949414A>G	uc004ecp.4	-	5	615	c.383T>C	c.(382-384)gTa>gCa	p.V128A	ATRX_uc004ecq.4_Intron|ATRX_uc004eco.4_5'UTR|ATRX_uc004ecr.2_Intron|ATRX_uc010nlx.1_Missense_Mutation_p.V128A|ATRX_uc010nly.1_Missense_Mutation_p.V73A	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	128					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTCTGGCTGTACAATCACTGT	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						83	203					0	0	0.00361	0	0	G	76949414	A	G	76949414	3	3	52	1	0	0	0	0	1	0	0	0	1208	391	14	3	7215	3	ATRX	23	76949414	Missense_Mutation	SNP	A	TCGA-DH-5144-01A-01D-1468-08	7278788	76949414	78321146	44	2200											
COL4A5	1287	broad.mit.edu	37	chrX	107930900	107930900	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctgtatgtacaaggaaatAaaagagcccacggtcaagac	16	7	9	9	1	1	2	1	0	0	2	2	3	2	3	2	2	2	2	2	2	7	3			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:107930900A>G	uc022ccg.1	+	48	4706	c.4504A>G	c.(4504-4506)Aaa>Gaa	p.K1502E	COL4A5_uc004enz.1_Missense_Mutation_p.K1496E	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1496	Collagen IV NC1.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ACAAGGAAATAAAAGAGCCCA	0.433									Alport syndrome with Diffuse Leiomyomatosis				20	419					0	0	0.002299	0	0	G	107930900	A	G	107930900	3	3	52	1	0	0	0	0	1	0	0	0	3694	363	13	3	4683	3	COL4A5	23	107930900	Missense_Mutation	SNP	A	TCGA-DH-5144-01A-01D-1468-08	30981486	107930900	47339660	45	2201											
AMMECR1	9949	broad.mit.edu	37	chrX	109444269	109444269	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagtctatggtctgtataTggtcccatcctgtagagaga	10	12	12	7	0	2	2	0	0	2	2	4	4	4	3	2	3	0	2	2	3	4	4			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:109444269T>C	uc004eoo.3	-	4	881	c.800A>G	c.(799-801)cAt>cGt	p.H267R	AMMECR1_uc004eop.3_Missense_Mutation_p.H230R|AMMECR1_uc004eoq.3_Missense_Mutation_p.H144R	NM_015365	NP_001165160	Q9Y4X0	AMER1_HUMAN	Homo sapiens Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 (AMMECR1), transcript variant 1, mRNA.	267	AMMECR1.							p.D266N(1)		large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GGTCTGTATATGGTCCCATCC	0.373													147	168					0	0	0.00361	0	0	C	109444269	T	C	109444269	3	2	52	1	0	0	0	0	1	0	0	0	578	1464	51	3	209	3	AMMECR1	23	109444269	Missense_Mutation	SNP	T	TCGA-DH-5144-01A-01D-1468-08	1513369	109444269	45826291	46	2202											
GPC3	2719	broad.mit.edu	37	chrX	132887716	132887716	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaccacattgcagtaaccGccacagggtttaaccatcat	13	9	7	12	1	1	1	1	1	0	0	1	1	1	1	4	1	3	3	4	1	2	4			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:132887716G>A	uc010nrn.2	-	2	1022	c.825C>T	c.(823-825)ggC>ggT	p.G275G	GPC3_uc004exe.2_Silent_p.G275G|GPC3_uc011mvh.2_Silent_p.G259G|GPC3_uc010nro.2_Silent_p.G221G|GPC3_uc010nrp.2_Silent_p.G147G	NM_001164617	NP_001158089	P51654	GPC3_HUMAN	Homo sapiens glypican 3 (GPC3), transcript variant 1, mRNA.	275						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TGCAGTAACCGCCACAGGGTT	0.483			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome				156	128					0	0	0.00361	0	0	A	132887716	G	A	132887716	2	1	52	1	0	0	0	0	0	0	0	1	6599	1074	38	1		1	GPC3	23	132887716	Silent	SNP	G	TCGA-DH-5144-01A-01D-1468-08	23443447	132887716	22382844	47	2203											
GPR50	9248	broad.mit.edu	37	chrX	150349210	150349210	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccgaccgtgcctctggccaCcctaagccccattccagatc	7	7	7	20	2	1	1	0	0	1	1	3	2	2	1	8	1	2	0	8	1	1	2			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:150349210C>A	uc010ntg.2	+	1	1293	c.1155C>A	c.(1153-1155)caC>caA	p.H385Q		NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	385	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTGGCCACCCTAAGCCCC	0.582													124	157					1.75558e-51	2.07744e-51	0.00361	1	0	A	150349210	C	A	150349210	3	1	52	1	0	0	0	0	1	0	0	0	6697	506	18	5	1161	5	GPR50	23	150349210	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	17461494	150349210	4921350	48	2204											
ARHGAP4	393	broad.mit.edu	37	chrX	153175536	153175536	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggctctccagctgggcGtccctgaggttcagggcaga	6	7	14	14	1	2	2	1	1	1	1	4	2	3	2	3	4	1	4	3	4	0	1			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:153175536G>A	uc004fjk.2	-	17	2218	c.2160C>T	c.(2158-2160)gaC>gaT	p.D720D	ARHGAP4_uc011mzf.2_Silent_p.D697D|ARHGAP4_uc004fjl.2_Silent_p.D760D|ARHGAP4_uc010nup.2_Non-coding_Transcript	NM_001666	NP_001657	P98171	RHG04_HUMAN	Homo sapiens Rho GTPase activating protein 4 (ARHGAP4), transcript variant 2, mRNA.	720					Rho protein signal transduction|apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGCTGGGCGTCCCTGAGGT	0.682													7	94					0	0	0.001984	0	0	A	153175536	G	A	153175536	2	1	52	1	0	0	0	0	0	0	0	1	885	1136	40	1		1	ARHGAP4	23	153175536	Silent	SNP	G	TCGA-DH-5144-01A-01D-1468-08	2826326	153175536	2095024	49	2205											
GDI1	2664	broad.mit.edu	37	chrX	153668416	153668416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcatgcgtgacgtctacCggaagtttgatctgggccag	8	9	13	11	3	2	2	0	2	2	0	2	3	2	3	3	2	3	2	3	2	2	2			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:153668416C>T	uc004fli.4	+	4	859	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	GDI1_uc011mzo.1_Missense_Mutation_p.R173W|GDI1_uc004flj.3_5'Flank	NM_001493	NP_001484	P31150	GDIA_HUMAN	Homo sapiens GDP dissociation inhibitor 1 (GDI1), mRNA.	173					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	p.R173R(2)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGACGTCTACCGGAAGTTTGA	0.577													296	489					0	0	0.00361	0	0	T	153668416	C	T	153668416	3	4	52	1	0	0	0	0	1	0	0	0	6320	643	23	2	535	2	GDI1	23	153668416	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	492880	153668416	1602144	50	2206											
EIF4G3	8672	broad.mit.edu	37	chr1	21183987	21183987	+	Frame_Shift_Del	DEL	A	A	-																															caccttcgtccactctctggAcacctgcagggagaacagag																										TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:21183987delA	uc001bec.3	-	19	3336	c.3080delT	c.(3079-3081)gtcfs	p.V1027fs	EIF4G3_uc010odi.2_Frame_Shift_Del_p.V631fs|EIF4G3_uc010odj.2_Frame_Shift_Del_p.V1026fs|EIF4G3_uc009vpz.3_Frame_Shift_Del_p.V747fs|EIF4G3_uc001bef.3_Frame_Shift_Del_p.V1063fs|EIF4G3_uc001bee.3_Frame_Shift_Del_p.V1033fs	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	1027					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CACTCTCTGGACACCTGCAGG	0.463													51	225	---	---	---	---						-	21183987	A	-	21183987	7	5	53	1	0	1	0	1	0	0	0	0	5038	275	10	0	1729	0	EIF4G3	1	21183987	Frame_Shift_Del	DEL	A	TCGA-DH-A66B-01A-11D-A29Q-08		21183987	228066634	1	2207											
ZNF644	84146	broad.mit.edu	37	chr1	91405999	91405999	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatcactaaagcaatcctcGgtataacgagttatcttgct	13	12	7	9	2	2	0	1	0	1	0	4	2	3	0	1	1	3	4	1	1	7	5	rs144274015	byFrequency	TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:91405999G>T	uc001dnw.3	-	2	1195	c.912C>A	c.(910-912)acC>acA	p.T304T	ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron|ZNF644_uc001dny.2_Silent_p.T304T	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AGCAATCCTCGGTATAACGAG	0.343													9	28					2.17888e-05	2.2124e-05	1	1	0	T	91405999	G	T	91405999	2	4	53	1	0	0	0	0	0	0	0	1	18057	1103	39	5		5	ZNF644	1	91405999	Silent	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08	70222012	91405999	157844622	2	2208											
INSRR	3645	broad.mit.edu	37	chr1	156815851	156815851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgggtcggtggcttccagCgcaccaggaggtgggaggag	6	6	20	9	2	0	0	0	0	0	0	2	3	1	3	2	7	1	3	2	7	0	1			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:156815851C>T	uc010pht.2	-	8	2170	c.1871G>A	c.(1870-1872)cGc>cAc	p.R624H	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	624	Fibronectin type-III 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGCTTCCAGCGCACCAGGAG	0.622													16	69					0	0	1	0	0	T	156815851	C	T	156815851	3	4	53	1	0	0	0	0	1	0	0	0	7774	768	27	1	2077	1	INSRR	1	156815851	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	65409852	156815851	92434770	3	2209											
FCRL2	79368	broad.mit.edu	37	chr1	157738222	157738222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acttctcacagggatattcaCcaccttgctctggataggca	10	11	8	12	0	3	0	2	0	2	0	4	2	3	2	2	3	1	2	2	3	2	5			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:157738222C>T	uc001fre.2	-	4	924	c.865G>A	c.(865-867)Gtg>Atg	p.V289M	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.V289M|FCRL2_uc009wsp.2_Intron	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.	289	Ig-like C2-type 3.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	SH3/SH2 adaptor activity|receptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GGGATATTCACCACCTTGCTC	0.478													19	95					0	0	1	0	0	T	157738222	C	T	157738222	3	4	53	1	0	0	0	0	1	0	0	0	5795	507	18	3	693	3	FCRL2	1	157738222	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	922371	157738222	91512399	4	2210											
ABL2	27	broad.mit.edu	37	chr1	179084144	179084144	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattccataggtagcaattTcccacaacaataccccaaaa	17	8	3	13	0	0	0	0	0	0	0	2	0	2	0	4	1	3	2	4	1	8	5			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:179084144T>A	uc001gmj.4	-	8	1717	c.1430A>T	c.(1429-1431)gAa>gTa	p.E477V	ABL2_uc010pnf.2_Missense_Mutation_p.E477V|ABL2_uc010png.2_Missense_Mutation_p.E456V|ABL2_uc010pnh.2_Missense_Mutation_p.E456V|ABL2_uc009wxe.3_Missense_Mutation_p.E456V|ABL2_uc001gmg.4_Missense_Mutation_p.E462V|ABL2_uc001gmi.4_Missense_Mutation_p.E462V|ABL2_uc010pne.2_Missense_Mutation_p.E441V	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	477	Protein kinase.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.K477E(1)|p.P476fs*7(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GGTAGCAATTTCCCACAACAA	0.378			T	ETV6	AML								18	96					0	0	1	0	0	A	179084144	T	A	179084144	3	1	53	1	0	0	0	0	1	0	0	0	93	1783	62	5	2179	5	ABL2	1	179084144	Missense_Mutation	SNP	T	TCGA-DH-A66B-01A-11D-A29Q-08	21345922	179084144	70166477	5	2211											
SLC26A9	115019	broad.mit.edu	37	chr1	205896383	205896383	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggaccagcatggtgaTcatcaccaccagagacacac	13	4	8	16	0	2	2	2	1	0	1	2	4	2	3	5	2	1	1	5	2	0	0			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:205896383T>G	uc001hdp.3	-	10	1363	c.1249A>C	c.(1249-1251)Atc>Ctc	p.I417L	SLC26A9_uc001hdo.3_Missense_Mutation_p.I85L|SLC26A9_uc001hdq.3_Missense_Mutation_p.I417L	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	417						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AGCATGGTGATCATCACCACC	0.483													5	139					0	0	1	0	0	G	205896383	T	G	205896383	3	3	53	1	0	0	0	0	1	0	0	0	14524	1435	50	5	1466	5	SLC26A9	1	205896383	Missense_Mutation	SNP	T	TCGA-DH-A66B-01A-11D-A29Q-08	26812239	205896383	43354238	6	2212											
RD3	343035	broad.mit.edu	37	chr1	211652456	211652456	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcccgctccacgtcctcGgagatggtcctgatgtcgct	4	11	12	14	4	0	2	0	1	0	1	6	3	4	2	4	2	0	2	4	2	0	0			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:211652456G>A	uc001him.2	-	2	1674	c.510C>T	c.(508-510)tcC>tcT	p.S170S	RD3_uc001hin.2_Silent_p.S170S|RD3_uc009xda.2_Non-coding_Transcript	NM_183059	NP_898882	Q7Z3Z2	RD3_HUMAN	Homo sapiens retinal degeneration 3 (RD3), transcript variant 1, mRNA.	170					response to stimulus|visual perception					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		CCACGTCCTCGGAGATGGTCC	0.716													6	26					0	0	1	0	0	A	211652456	G	A	211652456	2	1	53	1	0	0	0	0	0	0	0	1	13187	1103	39	2		2	RD3	1	211652456	Silent	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08	5756073	211652456	37598165	7	2213											
CHRM3	1131	broad.mit.edu	37	chr1	240071128	240071128	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catttcaatgaatctgtttaCgacctacatcatcatgaatc	13	14	4	10	1	4	2	3	2	1	0	5	3	4	2	1	0	2	1	1	0	5	4			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:240071128C>T	uc021plc.1	+	0	377	c.377C>T	c.(376-378)aCg>aTg	p.T126M	CHRM3_uc001hyp.3_Missense_Mutation_p.T126M	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	126					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.T126M(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	AATCTGTTTACGACCTACATC	0.468													20	37					0	0	1	0	0	T	240071128	C	T	240071128	3	4	53	1	0	0	0	0	1	0	0	0	3378	536	19	1	379	1	CHRM3	1	240071128	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	28418672	240071128	9179493	8	2214											
NLRC4	58484	broad.mit.edu	37	chr2	32449596	32449596	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactgagatcatcatcatcAaattgccacccaacaagcct	15	8	4	14	0	4	1	4	1	0	1	4	2	4	1	3	0	3	0	3	0	3	1			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr2:32449596A>G	uc002roi.3	-	8	3282	c.3021T>C	c.(3019-3021)ttT>ttC	p.F1007F	NLRC4_uc021vfq.1_Silent_p.F1007F|NLRC4_uc002roj.2_Silent_p.F1007F|NLRC4_uc010ezt.2_Silent_p.F342F	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	1007					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CATCATCATCAAATTGCCACC	0.378													45	65					0	0	1	0	0	G	32449596	A	G	32449596	2	3	53	1	0	0	0	0	0	0	0	1	10469	127	5	3		3	NLRC4	2	32449596	Silent	SNP	A	TCGA-DH-A66B-01A-11D-A29Q-08		32449596	210749777	9	2215											
IFIH1	64135	broad.mit.edu	37	chr2	163133214	163133214	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacctgtgtcatgggtttgaActcactgctgtgtccagctc	6	14	10	11	0	2	1	2	1	0	0	4	1	3	1	2	1	4	3	2	1	2	2			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr2:163133214A>C	uc002uce.3	-	10	2509	c.2287T>G	c.(2287-2289)Ttc>Gtc	p.F763V		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	763	Helicase C-terminal.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						ATGGGTTTGAACTCACTGCTG	0.398													12	62					0	0	1	0	0	C	163133214	A	C	163133214	3	2	53	1	0	0	0	0	1	0	0	0	7520	43	2	5	814	5	IFIH1	2	163133214	Missense_Mutation	SNP	A	TCGA-DH-A66B-01A-11D-A29Q-08	130683618	163133214	80066159	10	2216											
ATF2	1386	broad.mit.edu	37	chr2	175957831	175957833	+	In_Frame_Del	DEL	CTC	CTC	-																															ctcaagtcttcagctttcttCtctaaagactgaacccagac																										TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr2:175957831_175957833delCTC	uc002ujl.3	-	11	1403_1405	c.1141_1143delGAG	c.(1141-1143)gagdel	p.E381del	ATF2_uc002ujv.3_In_Frame_Del_p.E128del|ATF2_uc002ujm.3_In_Frame_Del_p.E323del|ATF2_uc002uju.3_Non-coding_Transcript|ATF2_uc002ujn.3_Non-coding_Transcript|ATF2_uc002ujo.3_Intron|ATF2_uc002ujp.3_Non-coding_Transcript|ATF2_uc002ujq.3_In_Frame_Del_p.E381del|ATF2_uc010fqu.3_In_Frame_Del_p.E363del|ATF2_uc002ujr.3_Non-coding_Transcript|ATF2_uc002ujs.3_In_Frame_Del_p.E323del|ATF2_uc002ujt.3_Non-coding_Transcript|ATF2_uc010fqv.3_In_Frame_Del_p.E332del|ATF2_uc002ujw.1_In_Frame_Del_p.E323del|ATF2_uc002ujx.1_Non-coding_Transcript	NM_001880	NP_001871	P15336	ATF2_HUMAN	Homo sapiens activating transcription factor 2 (ATF2), transcript variant 1, mRNA.	381	Leucine-zipper.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			CAGCTTTCTTCTCTAAAGACTGA	0.35													38	95	---	---	---	---						-	175957833	CTC	-	175957831	7	5	53	1	0	1	0	1	0	0	0	0	1080	912	32	0	386	0	ATF2	2	175957831	In_Frame_Del	DEL	CTC	TCGA-DH-A66B-01A-11D-A29Q-08	12824617	175957831	67241542	11	2217											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								22	22					0	0	1	0	0	T	209113112	C	T	209113112	3	4	53	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	33155281	209113112	34086261	12	2218											
CCDC13	152206	broad.mit.edu	37	chr3	42750573	42750573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagtcctcctcctttccccGcagggcactgcccagggcag	6	7	11	17	1	0	0	0	0	0	0	4	1	4	0	6	2	1	3	6	2	1	1			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr3:42750573G>A	uc003cly.4	-	15	2131	c.2047C>T	c.(2047-2049)Cgg>Tgg	p.R683W		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA.	683										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TCCTTTCCCCGCAGGGCACTG	0.592													20	76					0	0	1	0	0	A	42750573	G	A	42750573	3	1	53	1	0	0	0	0	1	0	0	0	2765	1086	38	1	104	1	CCDC13	3	42750573	Missense_Mutation	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08		42750573	155271857	13	2219											
TRAIP	10293	broad.mit.edu	37	chr3	49867117	49867117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcctaggatggcattcCggacaaaaatagggaaggca	13	7	13	8	1	1	0	0	0	1	0	2	3	2	3	2	6	0	2	2	6	5	3			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr3:49867117C>T	uc003cxs.1	-	12	1275	c.1169G>A	c.(1168-1170)cGg>cAg	p.R390Q	TRAIP_uc010hla.1_Missense_Mutation_p.R291Q	NM_005879	NP_005870	Q9BWF2	TRAIP_HUMAN	Homo sapiens TRAF interacting protein (TRAIP), mRNA.	390	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GATGGCATTCCGGACAAAAAT	0.587													27	49					0	0	1	0	0	T	49867117	C	T	49867117	3	4	53	1	0	0	0	0	1	0	0	0	16445	652	23	2	252	2	TRAIP	3	49867117	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	7116544	49867117	148155313	14	2220											
WDR17	116966	broad.mit.edu	37	chr4	177032847	177032847	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcgaccctggctatctataTttatcaggtaaaataataat	14	14	6	7	1	2	0	1	0	1	0	2	1	2	0	1	2	1	2	1	2	8	8			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr4:177032847T>C	uc003iuj.3	+	2	491	c.188T>C	c.(187-189)aTt>aCt	p.I63T	WDR17_uc003ium.4_Missense_Mutation_p.I39T|WDR17_uc003iul.2_Missense_Mutation_p.I39T	NM_170710	NP_733828	Q8IZU2	WDR17_HUMAN	Homo sapiens WD repeat domain 17 (WDR17), transcript variant 1, mRNA.	63										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GCTATCTATATTTATCAGGTA	0.343													15	37					0	0	1	0	0	C	177032847	T	C	177032847	3	2	53	1	0	0	0	0	1	0	0	0	17274	1493	52	3	194	3	WDR17	4	177032847	Missense_Mutation	SNP	T	TCGA-DH-A66B-01A-11D-A29Q-08		177032847	14121429	15	2221											
PCDHB4	56131	broad.mit.edu	37	chr5	140502918	140502918	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctccgacgtcaatgacaaCgcccccgccttcacccaaac	10	6	6	19	4	3	1	2	1	1	0	4	2	3	1	5	0	2	0	5	0	3	1			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr5:140502918C>T	uc003lip.1	+	0	1338	c.1338C>T	c.(1336-1338)aaC>aaT	p.N446N		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	446	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAATGACAACGCCCCCGCCT	0.602													111	112					0	0	1	0	0	T	140502918	C	T	140502918	2	4	53	1	0	0	0	0	0	0	0	1	11544	535	19	1		1	PCDHB4	5	140502918	Silent	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08		140502918	40412342	16	2222											
ITPR3	3710	broad.mit.edu	37	chr6	33632727	33632727	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccattgacatcgaggaggAgcggcccatccggctcatgg	8	6	14	13	3	1	1	1	1	0	0	3	4	2	3	3	5	1	1	3	5	0	1			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr6:33632727A>G	uc021ywr.1	+	11	1453	c.1229A>G	c.(1228-1230)gAg>gGg	p.E410G		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	410	MIR 5.				G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						ATCGAGGAGGAGCGGCCCATC	0.667													25	45					0	0	1	0	0	G	33632727	A	G	33632727	3	3	53	1	0	0	0	0	1	0	0	0	7922	304	11	4	1275	4	ITPR3	6	33632727	Missense_Mutation	SNP	A	TCGA-DH-A66B-01A-11D-A29Q-08		33632727	137482340	17	2223											
PKHD1	5314	broad.mit.edu	37	chr6	51768522	51768522	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatatttccatgtcctgacCagtctaatgtttcaacaaat	12	16	4	9	0	2	1	1	1	1	0	4	1	4	1	3	0	1	1	3	0	5	5			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr6:51768522C>G	uc003pah.1	-	42	7145	c.6869G>C	c.(6868-6870)tGg>tCg	p.W2290S	PKHD1_uc010jzn.1_Missense_Mutation_p.W273S|PKHD1_uc003pai.3_Missense_Mutation_p.W2290S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	2290					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	p.D2289Y(1)|p.D2289G(1)		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)					ATGTCCTGACCAGTCTAATGT	0.393													16	41					0	0	1	0	0	G	51768522	C	G	51768522	3	3	53	1	0	0	0	0	1	0	0	0	11971	595	21	5	5494	5	PKHD1	6	51768522	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	18135795	51768522	119346545	18	2224											
DNAH11	8701	broad.mit.edu	37	chr7	21824082	21824082	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaagtgttccagaaacagaGagaatgtgaagctgacttac	15	9	11	6	0	0	6	0	3	0	3	1	7	1	6	1	0	3	2	1	0	5	2			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr7:21824082G>C	uc003svc.3	+	58	9573	c.9542G>C	c.(9541-9543)aGa>aCa	p.R3181T		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3181	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAGAAACAGAGAGAATGTGAA	0.413									Kartagener syndrome				3	28					0	0	1	0	0	C	21824082	G	C	21824082	3	2	53	1	0	0	0	0	1	0	0	0	4599	942	33	5	9773	5	DNAH11	7	21824082	Missense_Mutation	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08		21824082	137314581	19	2225											
TNS3	64759	broad.mit.edu	37	chr7	47407972	47407972	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagctcaccttgccgcccGgtggccctgctggggccctc	2	7	12	20	2	1	0	1	0	0	0	2	0	1	0	6	4	3	2	6	4	0	1			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr7:47407972G>A	uc003tnw.3	-	16	2629	c.2271C>T	c.(2269-2271)acC>acT	p.T757T	TNS3_uc022acn.1_Silent_p.T314T	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	757						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CTTGCCGCCCGGTGGCCCTGC	0.632													61	219					0	0	1	0	0	A	47407972	G	A	47407972	2	1	53	1	0	0	0	0	0	0	0	1	16341	1103	39	2		2	TNS3	7	47407972	Silent	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08	25583890	47407972	111730691	20	2226											
CYP3A4	1576	broad.mit.edu	37	chr7	99364768	99364768	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttaccttttgtgtatcttCgaggcgactttctttcatcc	5	20	6	10	2	3	0	1	0	2	0	5	2	4	0	2	1	1	1	2	1	2	8			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr7:99364768C>T	uc003urv.2	-	7	891	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	CYP3A4_uc003urw.2_Missense_Mutation_p.E261K|CYP3A4_uc011kiz.2_Missense_Mutation_p.E221K	NM_017460	NP_059488	P08684	CP3A4_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	262					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	TGTGTATCTTCGAGGCGACTT	0.308													14	45					0	0	1	0	0	T	99364768	C	T	99364768	3	4	53	1	0	0	0	0	1	0	0	0	4178	893	31	2	751	2	CYP3A4	7	99364768	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	51956796	99364768	59773895	21	2227											
ING3	54556	broad.mit.edu	37	chr7	120590817	120590817	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtggtttttttttttttcTttttttttttttgccggagt	3	28	7	3	1	1	0	0	0	1	0	1	1	1	1	1	2	1	1	1	2	1	12			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr7:120590817T>C	uc003vjn.3	+	1	1	c.-133_splice	c.e1-1		ING3_uc011knr.1_Splice_Site|ING3_uc003vjl.3_Splice_Site|ING3_uc003vjm.1_Splice_Site|ING3_uc003vjo.3_Splice_Site|ING3_uc003vjp.3_Splice_Site|ING3_uc011kns.2_5'Flank	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN	Homo sapiens inhibitor of growth family, member 3 (ING3), transcript variant 1, mRNA.						histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					tttttttttcttttttttttt	0.542													3	6					0	0	1	0	0	C	120590817	T	C	120590817	5	2	53	1	0	0	0	0	0	0	1	0	7737	1623	56	4		4	ING3	7	120590817	Splice_Site	SNP	T	TCGA-DH-A66B-01A-11D-A29Q-08	21226049	120590817	38547846	22	2228											
PTPRZ1	5803	broad.mit.edu	37	chr7	121693973	121693973	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttttgtagggctattacCagagcaatgaattcatcatt	11	15	9	6	0	2	2	2	1	0	1	2	2	2	2	1	2	2	4	1	2	5	7			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr7:121693973C>T	uc003vjy.3	+	25	6657	c.6262C>T	c.(6262-6264)Cag>Tag	p.Q2088*	PTPRZ1_uc011knt.2_Nonsense_Mutation_p.Q1228*|PTPRZ1_uc003vjz.3_Nonsense_Mutation_p.Q1221*	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	2088	Tyrosine-protein phosphatase 2.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GGGCTATTACCAGAGCAATGA	0.403													47	71					0	0	1	0	0	T	121693973	C	T	121693973	4	4	53	1	0	0	0	0	0	1	0	0	12814	595	21	3	6364	3	PTPRZ1	7	121693973	Nonsense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	1103156	121693973	37444690	23	2229											
ADAM28	10863	broad.mit.edu	37	chr8	24181517	24181517	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatattgctcagttaatcacGtatgtacagattttctccca	11	15	6	9	1	3	1	2	0	1	1	4	2	3	1	1	0	2	4	1	0	4	7	rs138768775		TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr8:24181517G>A	uc003xdy.3	+	9	973	c.890_splice	c.e9+1	p.T297_splice	ADAM28_uc003xdx.3_Splice_Site_p.T297_splice|ADAM28_uc011kzz.2_Splice_Site_p.T64_splice|ADAM28_uc011laa.2_Splice_Site|ADAM28_uc010lua.3_5'Flank	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	297	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AGTTAATCACGTATGTACAGA	0.423													8	25					0	0	1	0	0	A	24181517	G	A	24181517	5	1	53	1	0	0	0	0	0	0	1	0	246	1159	40	1	925	1	ADAM28	8	24181517	Splice_Site	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08		24181517	122182505	24	2230											
CRISPLD1	83690	broad.mit.edu	37	chr8	75932115	75932115	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccttcagcaaatatcagTctgctaattccttcacagtc	11	14	4	12	0	4	0	3	0	1	0	6	0	5	0	2	0	3	2	2	0	4	6			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr8:75932115T>C	uc003yan.3	+	10	1648	c.1138T>C	c.(1138-1140)Tct>Cct	p.S380P	CRISPLD1_uc011lfk.2_Missense_Mutation_p.S192P|CRISPLD1_uc011lfl.2_Missense_Mutation_p.S192P	NM_031461	NP_113649	Q9H336	CRLD1_HUMAN	Homo sapiens cysteine-rich secretory protein LCCL domain containing 1 (CRISPLD1), mRNA.	380	LCCL 1.					extracellular region				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			CAAATATCAGTCTGCTAATTC	0.333													22	22					0	0	1	0	0	C	75932115	T	C	75932115	3	2	53	1	0	0	0	0	1	0	0	0	3882	1667	58	3	1176	3	CRISPLD1	8	75932115	Missense_Mutation	SNP	T	TCGA-DH-A66B-01A-11D-A29Q-08	51750598	75932115	70431907	25	2231											
SCRIB	23513	broad.mit.edu	37	chr8	144886879	144886882	+	Frame_Shift_Del	DEL	GGGA	GGGA	-																															gaggaatgtggcagagggctGggaggaagagggcccccagc																										TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr8:144886879_144886882delGGGA	uc003yzp.1	-	20	2872_2875	c.2865_2868delTCCC	c.(2863-2868)cctcccfs	p.P955fs	SCRIB_uc003yzn.1_5'Flank|SCRIB_uc003yzo.1_Frame_Shift_Del_p.P955fs	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	955	Interaction with ARHGEF7.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCAGAGGGCTGGGAGGAAGAGGGC	0.696													10	31	---	---	---	---						-	144886882	GGGA	-	144886879	7	5	53	1	0	1	0	1	0	0	0	0	13937	1335	47	0	2167	0	SCRIB	8	144886879	Frame_Shift_Del	DEL	GGGA	TCGA-DH-A66B-01A-11D-A29Q-08	68954764	144886879	1477143	26	2232											
FAM75C1	441452	broad.mit.edu	37	chr9	90535986	90535986	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagtagcttgccctgcgtcGcagaataaagtgcaagctct	10	9	12	10	2	1	1	0	0	1	1	2	2	1	2	1	1	5	5	1	1	5	3			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr9:90535986G>A	uc010mqi.3	+	3	1193	c.1164G>A	c.(1162-1164)tcG>tcA	p.S388S	FAM75C1_uc004apq.4_Silent_p.S371S	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		GCCCTGCGTCGCAGAATAAAG	0.517													60	316					0	0	1	0	0	A	90535986	G	A	90535986	2	1	53	1	0	0	0	0	0	0	0	1	5623	1074	38	1		1	FAM75C1	9	90535986	Silent	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08		90535986	50677445	27	2233											
RGS3	5998	broad.mit.edu	37	chr9	116224037	116224037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctttctggatctcaccGtcctgagtgttgtacctgca	5	17	8	11	1	3	1	1	1	3	0	5	2	4	2	3	1	2	3	3	1	1	5			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr9:116224037G>A	uc004bhq.3	+	2	340	c.131G>A	c.(130-132)cGt>cAt	p.R44H	RGS3_uc004bhr.3_5'Flank|RGS3_uc004bhs.3_5'Flank	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	44					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GGATCTCACCGTCCTGAGTGT	0.537													24	112					0	0	1	0	0	A	116224037	G	A	116224037	3	1	53	1	0	0	0	0	1	0	0	0	13306	1145	40	1	137	1	RGS3	9	116224037	Missense_Mutation	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08	25688051	116224037	24989394	28	2234											
RGS3	5998	broad.mit.edu	37	chr9	116246504	116246506	+	In_Frame_Del	DEL	CTT	CTT	-																															gacccggctttccacgagcaCttcttcttgtaagagtctgg																										TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr9:116246504_116246506delCTT	uc004bhq.3	+	6	821_823	c.612_614delCTT	c.(610-615)cacttc>cac	p.F207del	RGS3_uc004bhr.3_In_Frame_Del_p.F95del|RGS3_uc004bhs.3_In_Frame_Del_p.F97del	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	207	C2.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCACGAGCACTTCTTCTTGTAA	0.473													13	88	---	---	---	---						-	116246506	CTT	-	116246504	7	5	53	1	0	1	0	1	0	0	0	0	13306	564	20	0	717	0	RGS3	9	116246504	In_Frame_Del	DEL	CTT	TCGA-DH-A66B-01A-11D-A29Q-08	22467	116246504	24966927	29	2235											
NOTCH1	4851	broad.mit.edu	37	chr9	139412302	139412302	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgacgtcgatctcgcatCgggggcccgtgtagccctgc	4	9	14	14	6	1	1	0	1	1	0	4	2	1	1	2	2	2	3	2	2	1	2			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr9:139412302C>A	uc004chz.3	-	7	1343	c.1343G>T	c.(1342-1344)cGa>cTa	p.R448L		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	448	EGF-like 11; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GATCTCGCATCGGGGGCCCGT	0.647			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			24	80					4.26978e-12	4.69675e-12	1	1	0	A	139412302	C	A	139412302	3	1	53	1	0	0	0	0	1	0	0	0	10547	884	31	5	6432	5	NOTCH1	9	139412302	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	23165798	139412302	1801129	30	2236											
PCDH15	65217	broad.mit.edu	37	chr10	55581631	55581631	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcaacattacagtgaagtaGattgactgtgagattgtttt	13	14	10	4	0	0	4	0	3	0	2	0	5	0	4	0	0	3	3	0	0	4	6			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr10:55581631G>C	uc010qhy.1	-	34	6271	c.5876C>G	c.(5875-5877)tCt>tGt	p.S1959C	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Missense_Mutation_p.S806C|PCDH15_uc021pqy.1_Missense_Mutation_p.S1954C|PCDH15_uc021pqz.1_Missense_Mutation_p.S1929C|PCDH15_uc010qhv.1_Missense_Mutation_p.S1949C|PCDH15_uc010qhw.1_Missense_Mutation_p.S1912C|PCDH15_uc010qhx.1_Missense_Mutation_p.S1883C|PCDH15_uc010qhz.1_Missense_Mutation_p.S1954C|PCDH15_uc010qia.1_Missense_Mutation_p.S1932C|PCDH15_uc001jju.1_Missense_Mutation_p.S1952C|PCDH15_uc010qib.1_Missense_Mutation_p.S1929C	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1952					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAGTGAAGTAGATTGACTGTG	0.363										HNSCC(58;0.16)			21	115					0	0	1	0	0	C	55581631	G	C	55581631	3	2	53	1	0	0	0	0	1	0	0	0	11511	942	33	5	1622	5	PCDH15	10	55581631	Missense_Mutation	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08		55581631	79953116	31	2237											
OR52M1	119772	broad.mit.edu	37	chr11	4567331	4567331	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcaccaagcagatccgagAgagccttctccaaataccaa	14	6	7	14	2	1	2	0	0	1	2	4	4	2	2	5	0	3	2	5	0	4	2			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr11:4567331A>G	uc010qyf.2	+	0	911	c.911A>G	c.(910-912)gAg>gGg	p.E304G		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGATCCGAGAGAGCCTTCTC	0.438													4	75					0	0	1	0	0	G	4567331	A	G	4567331	3	3	53	1	0	0	0	0	1	0	0	0	11126	304	11	4	913	4	OR52M1	11	4567331	Missense_Mutation	SNP	A	TCGA-DH-A66B-01A-11D-A29Q-08		4567331	130439185	32	2238											
APIP	51074	broad.mit.edu	37	chr11	34909891	34909891	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttttatcatctcttgaTgtgtaattttaaactcccgt	8	20	4	9	1	2	1	1	1	1	0	5	1	4	1	2	0	1	1	2	0	4	7			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr11:34909891T>C	uc010reo.1	-	5	613	c.461A>G	c.(460-462)cAt>cGt	p.H154R	APIP_uc001mvs.2_Missense_Mutation_p.H137R			Q96GX9	MTNB_HUMAN	Homo sapiens APAF1 interacting protein (APIP), mRNA.	137					L-methionine salvage|apoptosis	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity			kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			CATCTCTTGATGTGTAATTTT	0.373													22	73					0	0	1	0	0	C	34909891	T	C	34909891	3	2	53	1	0	0	0	0	1	0	0	0	774	1464	51	3	330	3	APIP	11	34909891	Missense_Mutation	SNP	T	TCGA-DH-A66B-01A-11D-A29Q-08	30342560	34909891	100096625	33	2239											
OR6Q1	219952	broad.mit.edu	37	chr11	57798711	57798711	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggatggtggcaagaataTctcttatgctgattgcctat	9	14	12	6	0	1	2	0	1	1	1	2	3	1	3	1	4	2	2	1	4	5	4			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr11:57798711T>C	uc010rjz.2	+	0	287	c.287T>C	c.(286-288)aTc>aCc	p.I96T	OR9Q1_uc001nmj.3_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Q, member 1 (OR6Q1), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I96M(1)		biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				GGCAAGAATATCTCTTATGCT	0.483													10	139					0	0	1	0	0	C	57798711	T	C	57798711	3	2	53	1	0	0	0	0	1	0	0	0	11208	1435	50	3	289	3	OR6Q1	11	57798711	Missense_Mutation	SNP	T	TCGA-DH-A66B-01A-11D-A29Q-08	22888820	57798711	77207805	34	2240											
MLL	4297	broad.mit.edu	37	chr11	118343733	118343735	+	In_Frame_Del	DEL	CTT	CTT	-																															agaaccgacatttaggtggaCttctttaaagcattctaggt																										TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr11:118343733_118343735delCTT	uc001pta.3	+	2	1882_1884	c.1859_1861delCTT	c.(1858-1863)acttct>act	p.S621del	MLL_uc001ptb.3_In_Frame_Del_p.S621del|MLL_uc001psz.1_In_Frame_Del_p.S654del|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	621					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TTTAGGTGGACTTCTTTAAAGCA	0.433			"T, O"	"MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"	"AML, ALL"								13	78	---	---	---	---						-	118343735	CTT	-	118343733	7	5	53	1	0	1	0	1	0	0	0	0	9620	565	20	0	1869	0	MLL	11	118343733	In_Frame_Del	DEL	CTT	TCGA-DH-A66B-01A-11D-A29Q-08	60545022	118343733	16662783	35	2241											
COQ5	84274	broad.mit.edu	37	chr12	120947837	120947837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgatcaatgtgtgtgaCattccggatcccaaaggcaa	12	10	9	10	1	1	2	1	2	0	0	3	3	3	3	3	2	1	1	3	2	4	2			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr12:120947837C>T	uc001tyn.3	-	3	684	c.664G>A	c.(664-666)Gtc>Atc	p.V222I	COQ5_uc010szj.2_Missense_Mutation_p.V148I	NM_032314	NP_115690	Q5HYK3	COQ5_HUMAN	Homo sapiens coenzyme Q5 homolog, methyltransferase (S. cerevisiae) (COQ5), nuclear gene encoding mitochondrial protein, mRNA.	222					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATGTGTGTGACATTCCGGATC	0.433													14	38					0	0	1	0	0	T	120947837	C	T	120947837	3	4	53	1	0	0	0	0	1	0	0	0	3748	478	17	3	335	3	COQ5	12	120947837	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08		120947837	12904058	36	2242											
RXFP2	122042	broad.mit.edu	37	chr13	32371470	32371471	+	Frame_Shift_Del	DEL	TC	TC	-																															ggtggctgttgcaaatcgttTcttttttatagtgttctctg																										TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr13:32371470_32371471delTC	uc001utt.3	+	16	1990_1991	c.1919_1920delTC	c.(1918-1920)ttcfs	p.F640fs	RXFP2_uc010aba.3_Frame_Shift_Del_p.F616fs	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	640						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		GCAAATCGTTTCTTTTTTATAG	0.396													45	53	---	---	---	---						-	32371471	TC	-	32371470	7	5	53	1	0	1	0	1	0	0	0	0	13760	1783	62	0	1985	0	RXFP2	13	32371470	Frame_Shift_Del	DEL	TC	TCGA-DH-A66B-01A-11D-A29Q-08		32371470	82798408	37	2243											
SPRY2	10253	broad.mit.edu	37	chr13	80911693	80911693	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtactcattggtgtttcGgatggctctgatctgatcca	6	16	11	8	1	3	2	1	2	2	0	5	3	4	3	1	3	1	3	1	3	1	3			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr13:80911693G>A	uc001vli.3	-	1	1126	c.148C>T	c.(148-150)Cga>Tga	p.R50*	SPRY2_uc001vlj.3_Nonsense_Mutation_p.R50*|SPRY2_uc021rkz.1_Nonsense_Mutation_p.R50*	NM_005842	NP_005833	O43597	SPY2_HUMAN	Homo sapiens sprouty homolog 2 (Drosophila) (SPRY2), mRNA.	50					epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		TTGGTGTTTCGGATGGCTCTG	0.612													4	145					0	0	1	0	0	A	80911693	G	A	80911693	4	1	53	1	0	0	0	0	0	1	0	0	15105	1124	39	2	803	2	SPRY2	13	80911693	Nonsense_Mutation	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08	48540223	80911693	34258185	38	2244											
CEBPE	1053	broad.mit.edu	37	chr14	23588124	23588124	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctcaggcgctggcttcacGgcaaagagatcggagagaag	11	5	15	10	3	2	2	2	0	0	2	3	5	2	3	1	4	0	3	1	4	2	1	rs141320203		TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr14:23588124G>A	uc001wiv.2	-	0	697	c.177C>T	c.(175-177)gcC>gcT	p.A59A		NM_001805	NP_001796	Q15744	CEBPE_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), epsilon (CEBPE), mRNA.	59						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		CTGGCTTCACGGCAAAGAGAT	0.647													27	147					0	0	1	0	0	A	23588124	G	A	23588124	2	1	53	1	0	0	0	0	0	0	0	1	3202	1103	39	2		2	CEBPE	14	23588124	Silent	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08		23588124	83761416	39	2245											
OTX2	5015	broad.mit.edu	37	chr14	57268721	57268721	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggggtcaaatatgatccaCagtccatgcccccaaagtag	13	8	9	11	0	1	1	1	1	0	0	3	1	3	1	4	2	1	1	4	2	5	3			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr14:57268721C>A	uc001xcq.3	-	4	900	c.626G>T	c.(625-627)tGt>tTt	p.C209F	OTX2_uc001xcp.3_Missense_Mutation_p.C201F|OTX2_uc021rtm.1_Missense_Mutation_p.C31F|OTX2_uc010aou.3_Missense_Mutation_p.C201F	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	201					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					ATATGATCCACAGTCCATGCC	0.522													20	79					1.50039e-11	1.62337e-11	1	1	0	A	57268721	C	A	57268721	3	1	53	1	0	0	0	0	1	0	0	0	11321	478	17	5	271	5	OTX2	14	57268721	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	33680597	57268721	50080819	40	2246											
MAP2K5	5607	broad.mit.edu	37	chr15	67878228	67878228	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttagtcaattactgtttcagCctgcaagcctcctggggaac	9	12	9	11	0	2	0	2	0	0	0	3	1	3	1	3	2	5	2	3	2	5	3			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr15:67878228C>T	uc002aqu.3	+	5	976	c.323_splice	c.e5-1	p.A108_splice	MAP2K5_uc002aqv.3_Splice_Site_p.A108_splice|MAP2K5_uc010ujw.2_Splice_Site_p.A72_splice	NM_145160	NP_660143	Q13163	MP2K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 5 (MAP2K5), transcript variant 1, mRNA.	108					nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						ACTGTTTCAGCCTGCAAGCCT	0.373													8	71					0	0	1	0	0	T	67878228	C	T	67878228	5	4	53	1	0	0	0	0	0	0	1	0	9240	753	26	3	341	3	MAP2K5	15	67878228	Splice_Site	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08		67878228	34653164	41	2247											
PLIN1	5346	broad.mit.edu	37	chr15	90212791	90212791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgctccagggcccgggcCatggtctgcacggtgtatcg	4	8	14	15	3	1	0	0	0	1	0	3	0	2	0	4	4	2	3	4	4	1	1			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr15:90212791C>T	uc010upx.1	-	5	821	c.711G>A	c.(709-711)atG>atA	p.M237I	PLIN1_uc002boh.2_Missense_Mutation_p.M237I	NM_001145311	NP_002657	O60240	PLIN1_HUMAN	Homo sapiens perilipin 1 (PLIN1), transcript variant 2, mRNA.	237					triglyceride catabolic process	lipid particle	lipid binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						GGGCCCGGGCCATGGTCTGCA	0.642													23	69					0	0	1	0	0	T	90212791	C	T	90212791	3	4	53	1	0	0	0	0	1	0	0	0	12089	594	21	3	873	3	PLIN1	15	90212791	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	22334563	90212791	12318601	42	2248											
WDR24	84219	broad.mit.edu	37	chr16	739166	739166	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctgtggcctcacccgagaAggtgctgacagagtcctttc	7	10	11	13	1	2	3	1	1	1	2	4	4	3	3	3	2	1	1	3	2	1	1			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr16:739166A>T	uc002ciz.1	-	0	1235	c.475T>A	c.(475-477)Ttc>Atc	p.F159I		NM_032259	NP_115635	Q96S15	WDR24_HUMAN	Homo sapiens WD repeat domain 24 (WDR24), mRNA.	221										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				TCACCCGAGAAGGTGCTGACA	0.632													40	84					0	0	1	0	0	T	739166	A	T	739166	3	4	53	1	0	0	0	0	1	0	0	0	17278	72	3	5	1933	5	WDR24	16	739166	Missense_Mutation	SNP	A	TCGA-DH-A66B-01A-11D-A29Q-08		739166	89615587	43	2249											
ADCY9	115	broad.mit.edu	37	chr16	4165289	4165291	+	In_Frame_Del	DEL	GAG	GAG	-																															ccccagagctgctgcagctaGaggagatgctgtatttgcag																										TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr16:4165289_4165291delGAG	uc002cvx.3	-	1	692_694	c.153_155delCTC	c.(151-156)tcctct>tct	p.51_52SS>S		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	51					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding	p.S52C(2)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCTGCAGCTAGAGGAGATGCTGT	0.665													9	57	---	---	---	---						-	4165291	GAG	-	4165289	7	5	53	1	0	1	0	1	0	0	0	0	301	942	33	0	3946	0	ADCY9	16	4165289	In_Frame_Del	DEL	GAG	TCGA-DH-A66B-01A-11D-A29Q-08	3426123	4165289	86189464	44	2250											
PPL	5493	broad.mit.edu	37	chr16	4935140	4935142	+	In_Frame_Del	DEL	CTC	CTC	-																															cgcacgatctcccgcaccttCtcctgcaccaccactttggc																										TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr16:4935140_4935142delCTC	uc002cyd.1	-	21	3604_3606	c.3514_3516delGAG	c.(3514-3516)gagdel	p.E1172del		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	1172					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCCGCACCTTCTCCTGCACCACC	0.635													25	230	---	---	---	---						-	4935142	CTC	-	4935140	7	5	53	1	0	1	0	1	0	0	0	0	12334	912	32	0	1758	0	PPL	16	4935140	In_Frame_Del	DEL	CTC	TCGA-DH-A66B-01A-11D-A29Q-08	769851	4935140	85419613	45	2251											
MYH11	4629	broad.mit.edu	37	chr16	15835445	15835445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttcttggccgccagccGcacccgcatctcctcagcct	4	9	8	20	3	3	0	1	0	2	0	4	0	3	0	6	1	3	3	6	1	0	2			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr16:15835445G>A	uc002ddx.3	-	22	2862	c.2755C>T	c.(2755-2757)Cgg>Tgg	p.R919W	MYH11_uc002ddv.3_Missense_Mutation_p.R919W|MYH11_uc002ddw.3_Missense_Mutation_p.R912W|MYH11_uc002ddy.3_Missense_Mutation_p.R912W|MYH11_uc010bvg.3_Missense_Mutation_p.R744W	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	912					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCCGCCAGCCGCACCCGCATC	0.622			T	CBFB	AML								5	254					0	0	1	0	0	A	15835445	G	A	15835445	3	1	53	1	0	0	0	0	1	0	0	0	10031	1086	38	1	3299	1	MYH11	16	15835445	Missense_Mutation	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08	10900305	15835445	74519308	46	2252											
DNAJA2	10294	broad.mit.edu	37	chr16	46991039	46991040	+	Frame_Shift_Del	DEL	CT	CT	-																															cctctgaccacctcctgagcCtcgagtgctatcaaattcct																										TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr16:46991039_46991040delCT	uc002eeo.2	-	8	1282_1283	c.1140_1141delAG	c.(1138-1143)cgaggcfs	p.R380fs		NM_005880	NP_005871	O60884	DNJA2_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 2 (DNAJA2), mRNA.	380					positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	p.R380R(3)|p.R380L(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				CCTCCTGAGCCTCGAGTGCTAT	0.465													156	305	---	---	---	---						-	46991040	CT	-	46991039	7	5	53	1	0	1	0	1	0	0	0	0	4612	681	24	0	101	0	DNAJA2	16	46991039	Frame_Shift_Del	DEL	CT	TCGA-DH-A66B-01A-11D-A29Q-08	31155594	46991039	43363714	47	2253											
TP53	7157	broad.mit.edu	37	chr17	7576886	7576887	+	Frame_Shift_Ins	INS	-	-	T																															attctccatccagtggtttcINSttctttggctggggagagga																										TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr17:7576886_7576887insT	uc002gim.2	-	8	1153_1154	c.959_960insA	c.(958-960)aagfs	p.K320fs	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Frame_Shift_Ins_p.K320fs|TP53_uc010cne.1_Non-coding_Transcript|TP53_uc010cng.1_Frame_Shift_Ins_p.K188fs|TP53_uc010cnf.1_Frame_Shift_Ins_p.K188fs|TP53_uc002gii.1_Frame_Shift_Ins_p.K188fs|TP53_uc010cni.1_Frame_Shift_Ins_p.K320fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.K320fs|TP53_uc002gij.2_Frame_Shift_Ins_p.K320fs|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.	320	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.		K -> N (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.K319*(7)|p.K320N(6)|p.K320fs*26(4)|p.K320*(3)|p.K320fs*25(2)|p.P318fs*15(2)|p.K319N(2)|p.K319E(2)|p.K320K(2)|p.P318fs*21(1)|p.S315fs*22(1)|p.?(1)|p.L308fs*15(1)|p.K320fs*18(1)|p.K319fs*19(1)|p.K319R(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)		CCAGTGGTTTCTTCTTTGGCTG	0.46		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)			83	21	---	---	---	---						T	7576887	-	T	7576886	7	5	53	1	0	1	1	0	0	0	0	0	16378	912	32	0	322	0	TP53	17	7576886	Frame_Shift_Ins	INS	-	TCGA-DH-A66B-01A-11D-A29Q-08		7576886	73618324	48	2254											
RHOT1	55288	broad.mit.edu	37	chr17	30520157	30520157	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttttatgttttttgctagagGatttgtttcaacactccatt	8	21	6	6	0	1	1	1	0	0	1	2	2	2	2	1	1	2	3	1	1	3	9			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr17:30520157G>T	uc002hgw.3	+	9	881	c.642G>T	c.(640-642)agG>agT	p.R214S	RHOT1_uc002hgy.3_Missense_Mutation_p.R214S|RHOT1_uc002hgz.3_Missense_Mutation_p.R214S|RHOT1_uc002hha.3_Missense_Mutation_p.R87S|RHOT1_uc010csv.3_Non-coding_Transcript|RHOT1_uc002hgx.3_Missense_Mutation_p.R87S|RHOT1_uc010wby.2_Missense_Mutation_p.R214S|RHOT1_uc002hhb.3_Missense_Mutation_p.R193S|RHOT1_uc002hgv.3_Missense_Mutation_p.R214S	NM_001033568	NP_001028740	Q8IXI2	MIRO1_HUMAN	Homo sapiens ras homolog gene family, member T1 (RHOT1), transcript variant 1, mRNA.	214	EF-hand 1.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	GTP binding|GTPase activity|calcium ion binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				TTTGCTAGAGGATTTGTTTCA	0.333													11	47					1.58986e-06	1.63955e-06	1	1	0	T	30520157	G	T	30520157	3	4	53	1	0	0	0	0	1	0	0	0	13343	1165	41	5	680	5	RHOT1	17	30520157	Missense_Mutation	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08	22943271	30520157	50675053	49	2255											
KIF2B	84643	broad.mit.edu	37	chr17	51902246	51902246	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagggaagggatctagcCaatggctggaaaacatccag	13	8	12	8	0	2	0	1	0	1	0	3	3	3	3	2	4	2	1	2	4	5	2			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr17:51902246C>A	uc002iua.2	+	0	2008	c.1852C>A	c.(1852-1854)Caa>Aaa	p.Q618K	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	618					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.S617G(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGGATCTAGCCAATGGCTGGA	0.443													22	105					3.7963e-18	4.24671e-18	1	1	0	A	51902246	C	A	51902246	3	1	53	1	0	0	0	0	1	0	0	0	8298	595	21	5	1854	5	KIF2B	17	51902246	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	21382089	51902246	29292964	50	2256											
CACNA1A	773	broad.mit.edu	37	chr19	13318673	13318678	+	In_Frame_Del	DEL	CTGCTG	CTGCTG	-																															cggcccggcctggccaccgcCtgctgctgctgctgctgctg																								rs36208091		TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr19:13318673_13318678delCTGCTG	uc002mwy.3	-	46	7206_7211	c.6970_6975delCAGCAG	c.(6970-6975)cagcagdel	p.QQ2324del	CACNA1A_uc002mwx.3_In_Frame_Del_p.QQ1018del|CACNA1A_uc010dzc.2_In_Frame_Del_p.QQ1850del|CACNA1A_uc010xnd.2_3'UTR|CACNA1A_uc021ups.1_3'UTR|CACNA1A_uc010xne.2_In_Frame_Del_p.QQ2327del|CACNA1A_uc010dze.2_3'UTR|CACNA1A_uc021upt.1_3'UTR|CACNA1A_uc002mwv.3_In_Frame_Del_p.QQ829del	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	2323	Poly-Gln.				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TGGCCACCGCctgctgctgctgctgc	0.767													2	4	---	---	---	---						-	13318678	CTGCTG	-	13318673	7	5	53	1	0	1	0	1	0	0	0	0	2538	680	24	0	549	0	CACNA1A	19	13318673	In_Frame_Del	DEL	CTGCTG	TCGA-DH-A66B-01A-11D-A29Q-08		13318673	45810310	51	2257											
CYP4F12	66002	broad.mit.edu	37	chr19	15807863	15807863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgagggcgggctttggctgCgggtggagcccctgaatgta	5	8	18	10	3	0	1	0	1	0	0	0	3	0	2	3	5	2	3	3	5	2	2			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr19:15807863C>T	uc002nbl.3	+	12	1662	c.1543C>T	c.(1543-1545)Cgg>Tgg	p.R515W		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GCTTTGGCTGCGGGTGGAGCC	0.567													24	101					0	0	1	0	0	T	15807863	C	T	15807863	3	4	53	1	0	0	0	0	1	0	0	0	4187	759	27	1	1589	1	CYP4F12	19	15807863	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	2489190	15807863	43321120	52	2258											
ZNF676	163223	broad.mit.edu	37	chr19	22363763	22363763	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacattcttcacatttgtaGggtttctctccagtatgaat	9	16	6	10	0	3	1	1	1	2	0	5	1	4	1	2	1	0	3	2	1	3	6			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr19:22363763G>A	uc002nqs.1	-	2	1074	c.756C>T	c.(754-756)ccC>ccT	p.P252P		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CACATTTGTAGGGTTTCTCTC	0.373													30	66					0	0	1	0	0	A	22363763	G	A	22363763	2	1	53	1	0	0	0	0	0	0	0	1	18080	987	35	3		3	ZNF676	19	22363763	Silent	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08	6555900	22363763	36765220	53	2259											
LMTK3	114783	broad.mit.edu	37	chr19	49003052	49003052	+	Frame_Shift_Del	DEL	G	G	-																															ggaagggaccgtctcggggtGggggtggcggcggtgggggc																										TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr19:49003052delG	uc002pjk.3	-	11	1361	c.1361delC	c.(1360-1362)ccafs	p.P454fs		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GTCTCGGGGTGGGGGTGGCGG	0.716													2	4	---	---	---	---						-	49003052	G	-	49003052	7	5	53	1	0	1	0	1	0	0	0	0	8860	1348	47	0	3128	0	LMTK3	19	49003052	Frame_Shift_Del	DEL	G	TCGA-DH-A66B-01A-11D-A29Q-08	26639289	49003052	10125931	54	2260											
CHAF1B	8208	broad.mit.edu	37	chr21	37775114	37775114	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctttcttccgtagactgaGtttcactcccgacggatctt	6	15	8	12	3	4	2	1	1	3	1	6	4	6	3	2	1	0	2	2	1	1	5			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr21:37775114G>C	uc002yvj.3	+	7	860	c.722G>C	c.(721-723)aGt>aCt	p.S241T		NM_005441	NP_005432	Q13112	CAF1B_HUMAN	Homo sapiens chromatin assembly factor 1, subunit B (p60) (CHAF1B), mRNA.	241					DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding	p.L240L(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						CGTAGACTGAGTTTCACTCCC	0.443													46	227					0	0	1	0	0	C	37775114	G	C	37775114	3	2	53	1	0	0	0	0	1	0	0	0	3312	1029	36	5	748	5	CHAF1B	21	37775114	Missense_Mutation	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08		37775114	10354781	55	2261											
MORC2	22880	broad.mit.edu	37	chr22	31330834	31330834	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgactttgggagaaggAacctcccgagggctcttgga	9	10	14	8	1	1	3	0	2	1	1	2	7	2	5	2	4	1	1	2	4	2	3			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr22:31330834A>C	uc003aje.1	-	19	3305	c.1941T>G	c.(1939-1941)gtT>gtG	p.V647V		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA.	709							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						TGGGAGAAGGAACCTCCCGAG	0.552													69	214					0	0	1	0	0	C	31330834	A	C	31330834	2	2	53	1	0	0	0	0	0	0	0	1	9702	233	9	5		5	MORC2	22	31330834	Silent	SNP	A	TCGA-DH-A66B-01A-11D-A29Q-08		31330834	19973732	56	2262											
ATRX	546	broad.mit.edu	37	chrX	76938097	76938100	+	Frame_Shift_Del	DEL	TCTT	TCTT	-																															ctgaagagaaagtctctctcTcttgttttctttcagcatca																										TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chrX:76938097_76938100delTCTT	uc004ecp.4	-	8	2880_2883	c.2648_2651delAAGA	c.(2647-2652)caagagfs	p.Q883fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.Q845fs|ATRX_uc004eco.4_Frame_Shift_Del_p.Q668fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.Q815fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.Q854fs|ATRX_uc010nly.1_Frame_Shift_Del_p.Q828fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	883					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AGTCTCTCTCTCTTGTTTTCTTTC	0.407			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						79	28	---	---	---	---						-	76938100	TCTT	-	76938097	7	5	53	1	0	1	0	1	0	0	0	0	1208	1551	54	0	4935	0	ATRX	23	76938097	Frame_Shift_Del	DEL	TCTT	TCGA-DH-A66B-01A-11D-A29Q-08		76938097	78332463	57	2263											
PRG4	10216	broad.mit.edu	37	chr1	186277366	186277366	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggagcctgcacccactaccCccaagaagcctgctccaact	11	5	7	18	0	0	1	0	0	0	1	1	2	1	2	6	1	6	2	6	1	4	1			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr1:186277366C>G	uc001gru.4	+	6	2566	c.2515C>G	c.(2515-2517)Ccc>Gcc	p.P839A	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.P798A|PRG4_uc009wyl.3_Missense_Mutation_p.P746A|PRG4_uc009wym.3_Missense_Mutation_p.P705A|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	839	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACTACCCCCAAGAAGCC	0.562													8	501					0	0	1	0	0	G	186277366	C	G	186277366	3	3	54	1	0	0	0	0	1	0	0	0	12481	623	22	5	2537	5	PRG4	1	186277366	Missense_Mutation	SNP	C	TCGA-DH-A66F-01A-11D-A29Q-08		186277366	62973255	1	2264											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								20	31					0	0	1	0	0	T	209113112	C	T	209113112	3	4	54	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DH-A66F-01A-11D-A29Q-08		209113112	34086261	2	2265											
ITIH3	3699	broad.mit.edu	37	chr3	52840399	52840399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccaggcacagtgctgcGccttattcaggatgcagtca	9	8	11	13	1	2	0	2	0	0	0	2	1	2	1	3	2	4	3	3	2	1	2			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr3:52840399G>A	uc003dfv.2	+	17	2069	c.2033G>A	c.(2032-2034)cGc>cAc	p.R678H	ITIH3_uc011bek.1_Intron	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.	678					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.R678H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACAGTGCTGCGCCTTATTCAG	0.612													13	39					0	0	1	0	0	A	52840399	G	A	52840399	3	1	54	1	0	0	0	0	1	0	0	0	7905	1087	38	1	2103	1	ITIH3	3	52840399	Missense_Mutation	SNP	G	TCGA-DH-A66F-01A-11D-A29Q-08		52840399	145182031	3	2266											
SLC23A1	9963	broad.mit.edu	37	chr5	138713162	138713162	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggtcagcagcacaatcAgaatctgatccacttcaaga	13	8	8	12	1	4	3	3	1	1	2	5	3	5	3	2	1	2	2	2	1	3	1			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr5:138713162A>G	uc003leg.3	-	12	1587	c.1490T>C	c.(1489-1491)cTg>cCg	p.L497P	SLC23A1_uc003leh.3_Missense_Mutation_p.L493P	NM_152685	NP_689898	Q9UHI7	S23A1_HUMAN	Homo sapiens solute carrier family 23 (nucleobase transporters), member 1 (SLC23A1), transcript variant 2, mRNA.	493					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	L-ascorbate:sodium symporter activity|dehydroascorbic acid transporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	CAGCACAATCAGAATCTGATC	0.527													22	26					0	0	1	0	0	G	138713162	A	G	138713162	3	3	54	1	0	0	0	0	1	0	0	0	14462	188	7	4	326	4	SLC23A1	5	138713162	Missense_Mutation	SNP	A	TCGA-DH-A66F-01A-11D-A29Q-08		138713162	42202098	4	2267											
LARS	51520	broad.mit.edu	37	chr5	145512473	145512473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagattacctggcaaaaactCtatcattgaaagtgctggca	14	10	8	9	0	2	2	1	1	1	1	2	2	2	2	1	2	3	3	1	2	5	3			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr5:145512473C>T	uc003lnx.1	-	22	2622	c.2384G>A	c.(2383-2385)aGa>aAa	p.R795K	LARS_uc003lnw.1_5'Flank|LARS_uc011dbq.1_Missense_Mutation_p.R749K|LARS_uc011dbr.1_Missense_Mutation_p.R741K|LARS_uc011dbs.1_Missense_Mutation_p.R768K	NM_020117	NP_064502	Q9P2J5	SYLC_HUMAN	Homo sapiens leucyl-tRNA synthetase (LARS), mRNA.	795					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	GGCAAAAACTCTATCATTGAA	0.403													4	92					0	0	1	0	0	T	145512473	C	T	145512473	3	4	54	1	0	0	0	0	1	0	0	0	8634	913	32	3	1186	3	LARS	5	145512473	Missense_Mutation	SNP	C	TCGA-DH-A66F-01A-11D-A29Q-08	6799311	145512473	35402787	5	2268											
GRIA1	2890	broad.mit.edu	37	chr5	153190685	153190685	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcggcggcagtggagAgaatggtcgggtggtcagcc	8	5	19	9	3	1	1	1	0	0	1	2	3	1	2	1	6	3	2	1	6	1	0			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr5:153190685A>G	uc011dcy.2	+	15	2678	c.2651A>G	c.(2650-2652)gAg>gGg	p.E884G	GRIA1_uc003lva.4_Missense_Mutation_p.E874G|GRIA1_uc003luy.4_Missense_Mutation_p.E874G|GRIA1_uc003luz.4_Missense_Mutation_p.E779G|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.E794G|GRIA1_uc011dcx.2_Missense_Mutation_p.E805G|GRIA1_uc011dcz.2_Missense_Mutation_p.E884G	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	874					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGCAGTGGAGAGAATGGTCGG	0.577													4	110					0	0	1	0	0	G	153190685	A	G	153190685	3	3	54	1	0	0	0	0	1	0	0	0	6767	304	11	4	2802	4	GRIA1	5	153190685	Missense_Mutation	SNP	A	TCGA-DH-A66F-01A-11D-A29Q-08	7678212	153190685	27724575	6	2269											
ARID1B	57492	broad.mit.edu	37	chr6	157495231	157495231	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagaagaaggcactccaCagcccgagagcaagtcaaag	17	2	11	11	1	1	3	1	0	0	3	2	4	2	3	2	1	2	3	2	1	5	0			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr6:157495231C>T	uc003qqp.3	+	9	3076	c.3076C>T	c.(3076-3078)Cag>Tag	p.Q1026*	ARID1B_uc003qqo.3_Nonsense_Mutation_p.Q1039*|ARID1B_uc003qqn.3_Nonsense_Mutation_p.Q1026*	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1026					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGGCACTCCACAGCCCGAGAG	0.522													8	59					0	0	1	0	0	T	157495231	C	T	157495231	4	4	54	1	0	0	0	0	0	1	0	0	914	479	17	3	3157	3	ARID1B	6	157495231	Nonsense_Mutation	SNP	C	TCGA-DH-A66F-01A-11D-A29Q-08		157495231	13619836	7	2270											
FNDC1	84624	broad.mit.edu	37	chr6	159653415	159653415	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctctcctgcccaccacgCgtccacccagggcacctctc	5	6	8	22	2	2	0	0	0	2	0	5	0	3	0	7	2	1	1	7	2	0	0			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr6:159653415C>T	uc010kjv.3	+	10	2071	c.1871C>T	c.(1870-1872)gCg>gTg	p.A624V	FNDC1_uc010kjw.1_Missense_Mutation_p.A509V	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	624						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCCACCACGCGTCCACCCAG	0.667													5	80					0	0	1	0	0	T	159653415	C	T	159653415	3	4	54	1	0	0	0	0	1	0	0	0	5968	768	27	1	1913	1	FNDC1	6	159653415	Missense_Mutation	SNP	C	TCGA-DH-A66F-01A-11D-A29Q-08	2158184	159653415	11461652	8	2271											
C7orf58	79974	broad.mit.edu	37	chr7	120629721	120629721	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtcggcgattttgccccCgacccttcttggtgggctta	3	13	12	13	4	1	0	0	0	1	0	3	2	1	0	3	3	1	1	3	3	1	5			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr7:120629721C>T	uc003vjq.4	+	1	493	c.46C>T	c.(46-48)Cga>Tga	p.R16*	C7orf58_uc003vjr.1_Nonsense_Mutation_p.R16*|C7orf58_uc003vjs.4_Nonsense_Mutation_p.R16*	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	16						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					ATTTTGCCCCCGACCCTTCTT	0.597													5	117					0	0	1	0	0	T	120629721	C	T	120629721	4	4	54	1	0	0	0	0	0	1	0	0	2405	644	23	2	48	2	C7orf58	7	120629721	Nonsense_Mutation	SNP	C	TCGA-DH-A66F-01A-11D-A29Q-08		120629721	38508942	9	2272											
LRRC4	64101	broad.mit.edu	37	chr7	127670472	127670472	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggtaccgggtgttcgaGggaataccctgcgggacctc	7	9	15	10	3	0	1	0	1	0	0	2	4	0	3	3	4	3	2	3	4	3	4			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr7:127670472G>A	uc003vmk.3	-	1	359	c.222C>T	c.(220-222)ccC>ccT	p.P74P	SND1_uc003vmi.3_Intron|SND1_uc010lle.3_Intron|LRRC4_uc022akv.1_Silent_p.P74P	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	Homo sapiens leucine rich repeat containing 4 (LRRC4), mRNA.	74	LRRNT.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GGGTGTTCGAGGGAATACCCT	0.637													4	150					0	0	1	0	0	A	127670472	G	A	127670472	2	1	54	1	0	0	0	0	0	0	0	1	8997	987	35	3		3	LRRC4	7	127670472	Silent	SNP	G	TCGA-DH-A66F-01A-11D-A29Q-08	7040751	127670472	31468191	10	2273											
FAM75C1	441452	broad.mit.edu	37	chr9	90536629	90536629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttgatccccgtgagtgtgCgtcgatcctggcttgctgtc	3	13	13	12	3	0	2	0	2	0	0	4	3	2	2	3	1	2	3	3	1	0	2			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr9:90536629C>T	uc010mqi.3	+	3	1836	c.1807C>T	c.(1807-1809)Cgt>Tgt	p.R603C	FAM75C1_uc004apq.4_Missense_Mutation_p.R586C	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		CGTGAGTGTGCGTCGATCCTG	0.507													5	217					0	0	1	0	0	T	90536629	C	T	90536629	3	4	54	1	0	0	0	0	1	0	0	0	5623	768	27	1	1821	1	FAM75C1	9	90536629	Missense_Mutation	SNP	C	TCGA-DH-A66F-01A-11D-A29Q-08		90536629	50676802	11	2274											
COL15A1	1306	broad.mit.edu	37	chr9	101832036	101832036	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaagcatggcgaaccgcGgacacagcggtcacgggact	10	5	15	11	5	1	1	1	1	0	0	1	4	1	3	1	4	3	1	1	4	2	0			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr9:101832036G>A	uc004azb.1	+	41	4241	c.4035G>A	c.(4033-4035)gcG>gcA	p.A1345A		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	1345	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGCGAACCGCGGACACAGCGG	0.537													70	119					0	0	1	0	0	A	101832036	G	A	101832036	2	1	54	1	0	0	0	0	0	0	0	1	3672	1103	39	2		2	COL15A1	9	101832036	Silent	SNP	G	TCGA-DH-A66F-01A-11D-A29Q-08	11295407	101832036	39381395	12	2275											
YME1L1	10730	broad.mit.edu	37	chr10	27420861	27420861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcaagccctgttgttgtcCggaagcggactaaagggaag	12	8	13	8	2	1	0	1	0	0	0	2	3	2	3	2	3	2	2	2	3	6	3			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr10:27420861C>T	uc001iti.3	-	8	1166	c.956G>A	c.(955-957)cGg>cAg	p.R319Q	YME1L1_uc001itj.3_Missense_Mutation_p.R262Q|YME1L1_uc010qdl.2_Missense_Mutation_p.R229Q	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	Homo sapiens YME1-like 1 (S. cerevisiae) (YME1L1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	319					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	p.R319L(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGTTGTTGTCCGGAAGCGGAC	0.373													20	45					0	0	1	0	0	T	27420861	C	T	27420861	3	4	54	1	0	0	0	0	1	0	0	0	17484	652	23	2	1413	2	YME1L1	10	27420861	Missense_Mutation	SNP	C	TCGA-DH-A66F-01A-11D-A29Q-08		27420861	108113886	13	2276											
ASCC1	51008	broad.mit.edu	37	chr10	73970535	73970535	+	Frame_Shift_Del	DEL	G	G	-																															aagtagaccggaatccttgtGgggtctgctccacctcgtag																										TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr10:73970535delG	uc001jst.2	-	2	435	c.167delC	c.(166-168)ccafs	p.P56fs	ANAPC16_uc021psn.1_Intron|ASCC1_uc001jss.2_Frame_Shift_Del_p.P56fs|ASCC1_uc021pso.1_Frame_Shift_Del_p.P56fs|ASCC1_uc001jsu.2_Frame_Shift_Del_p.P56fs|ASCC1_uc010qju.2_Frame_Shift_Del_p.P77fs	NM_001198799	NP_001185728	Q8N9N2	ASCC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 1 (ASCC1), transcript variant 1, mRNA.	56					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	RNA binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						GAATCCTTGTGGGGTCTGCTC	0.527													18	46	---	---	---	---						-	73970535	G	-	73970535	7	5	54	1	0	1	0	1	0	0	0	0	1031	1348	47	0	938	0	ASCC1	10	73970535	Frame_Shift_Del	DEL	G	TCGA-DH-A66F-01A-11D-A29Q-08	46549674	73970535	61564212	14	2277											
DNMBP	23268	broad.mit.edu	37	chr10	101731881	101731881	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccactgagccagcctccaTgttttataacctggaaagat	13	10	7	11	0	0	2	0	1	0	1	1	3	1	3	5	1	4	1	5	1	4	3			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr10:101731881T>C	uc001kqj.2	-	1	93	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	1					intracellular signal transduction|regulation of Rho protein signal transduction	Golgi stack|cell junction|cytoskeleton|synapse	Rho guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CCAGCCTCCATGTTTTATAAC	0.388													29	46					0	0	1	0	0	C	101731881	T	C	101731881	3	2	54	1	0	0	0	0	1	0	0	0	4674	1464	51	3	4796	3	DNMBP	10	101731881	Missense_Mutation	SNP	T	TCGA-DH-A66F-01A-11D-A29Q-08	27761346	101731881	33802866	15	2278											
HPS5	11234	broad.mit.edu	37	chr11	18339305	18339305	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagaaattcacctttagaCgactggagtccagccgcagg	12	8	10	11	2	2	2	2	0	0	2	3	4	3	3	3	2	1	1	3	2	3	3			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr11:18339305C>T	uc001mod.1	-	1	379	c.101G>A	c.(100-102)cGt>cAt	p.R34H	HPS5_uc001moe.1_Intron|HPS5_uc001mof.1_Intron|HPS5_uc001mog.1_Missense_Mutation_p.R34H	NM_181507	NP_852609	Q9UPZ3	HPS5_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 5 (HPS5), transcript variant 1, mRNA.	34						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CACCTTTAGACGACTGGAGTC	0.463									Hermansky-Pudlak syndrome				8	12					0	0	1	0	0	T	18339305	C	T	18339305	3	4	54	1	0	0	0	0	1	0	0	0	7342	536	19	1	3376	1	HPS5	11	18339305	Missense_Mutation	SNP	C	TCGA-DH-A66F-01A-11D-A29Q-08		18339305	116667211	16	2279											
PLEKHG6	55200	broad.mit.edu	37	chr12	6422805	6422805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcccaggatcccagtcGccgacgcctccagcagtatg	7	7	9	18	3	1	0	0	0	1	0	5	2	3	1	6	1	1	2	6	1	1	1			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr12:6422805G>A	uc001qnr.3	+	2	297	c.149G>A	c.(148-150)cGc>cAc	p.R50H	PLEKHG6_uc001qns.3_Missense_Mutation_p.R50H|PLEKHG6_uc010sew.2_Missense_Mutation_p.R50H|PLEKHG6_uc010sex.2_Missense_Mutation_p.R18H	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.	50					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GATCCCAGTCGCCGACGCCTC	0.637													40	82					0	0	1	0	0	A	6422805	G	A	6422805	3	1	54	1	0	0	0	0	1	0	0	0	12074	1087	38	1	201	1	PLEKHG6	12	6422805	Missense_Mutation	SNP	G	TCGA-DH-A66F-01A-11D-A29Q-08		6422805	127429090	17	2280											
CREBBP	1387	broad.mit.edu	37	chr16	3832889	3832889	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctgtgccaacagaaccaaTtgtgttttgaattccactag	11	12	7	11	0	0	2	0	1	0	1	1	2	1	2	4	0	3	1	4	0	5	5			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr16:3832889T>C	uc002cvv.3	-	5	1573	c.1369A>G	c.(1369-1371)Att>Gtt	p.I457V	CREBBP_uc002cvw.3_Missense_Mutation_p.I419V	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	457					N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACAGAACCAATTGTGTTTTGA	0.488			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						4	68					0	0	1	0	0	C	3832889	T	C	3832889	3	2	54	1	0	0	0	0	1	0	0	0	3861	1493	52	3	6063	3	CREBBP	16	3832889	Missense_Mutation	SNP	T	TCGA-DH-A66F-01A-11D-A29Q-08		3832889	86521864	18	2281											
SLC6A2	6530	broad.mit.edu	37	chr16	55735794	55735794	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagactggcctatggcatcaCgccagagaacgagcaccacc	12	4	11	14	2	1	2	1	0	0	2	1	5	1	2	4	2	2	2	4	2	2	1			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr16:55735794C>T	uc021tio.1	+	12	1829	c.1778C>T	c.(1777-1779)aCg>aTg	p.T593M	SLC6A2_uc002eif.3_Missense_Mutation_p.T593M|SLC6A2_uc002eig.3_Missense_Mutation_p.T593M|SLC6A2_uc002eii.3_Missense_Mutation_p.T488M|SLC6A2_uc002eij.3_Missense_Mutation_p.T307M|SLC6A2_uc021tip.1_Non-coding_Transcript	NM_001172504	NP_001165975	P23975	SC6A2_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2), transcript variant 1, mRNA.	593					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TATGGCATCACGCCAGAGAAC	0.622											OREG0023807	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	36	82					0	0	1	0	0	T	55735794	C	T	55735794	3	4	54	1	0	0	0	0	1	0	0	0	14683	536	19	1	1919	1	SLC6A2	16	55735794	Missense_Mutation	SNP	C	TCGA-DH-A66F-01A-11D-A29Q-08	51902905	55735794	34618959	19	2282											
FXR2	9513	broad.mit.edu	37	chr17	7517826	7517826	+	Frame_Shift_Del	DEL	C	C	-																															gggcagtcccggctccacatCccccccagaggccaggccgc																										TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr17:7517826delC	uc002gia.2	-	0	390	c.25delG	c.(25-27)gatfs	p.D9fs	SHBG_uc010cmu.2_Intron|SHBG_uc010cmo.2_Intron|SHBG_uc010cmp.2_Intron|SHBG_uc010cmq.2_Intron|SHBG_uc010cmr.2_Intron|SHBG_uc010cms.2_Intron|SHBG_uc010cmt.2_Intron	NM_004860	NP_004851	P51116	FXR2_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 2 (FXR2), mRNA.	9						cytosolic large ribosomal subunit	RNA binding|protein binding	p.D9fs*27(2)|p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		GGCTCCACATCCCCCCCAGAG	0.766													2	4	---	---	---	---						-	7517826	C	-	7517826	7	5	54	1	0	1	0	1	0	0	0	0	6116	855	30	0	1964	0	FXR2	17	7517826	Frame_Shift_Del	DEL	C	TCGA-DH-A66F-01A-11D-A29Q-08		7517826	73677384	20	2283											
TRPV2	51393	broad.mit.edu	37	chr17	16321163	16321163	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taagagtcaacctcaactacCgaaagggaacaggtgccagg	15	5	11	10	1	2	1	2	0	0	1	2	3	2	2	3	3	5	0	3	3	6	2			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr17:16321163C>T	uc002gpy.3	+	1	580	c.181C>T	c.(181-183)Cga>Tga	p.R61*	TRPV2_uc002gpz.3_5'UTR	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 2 (TRPV2), mRNA.	61	Required for interaction with SLC50A1 (By similarity).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCTCAACTACCGAAAGGGAAC	0.597													13	43					0	0	1	0	0	T	16321163	C	T	16321163	4	4	54	1	0	0	0	0	0	1	0	0	16593	644	23	2	183	2	TRPV2	17	16321163	Nonsense_Mutation	SNP	C	TCGA-DH-A66F-01A-11D-A29Q-08	8803337	16321163	64874047	21	2284											
UNC13D	201294	broad.mit.edu	37	chr17	73832286	73832286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcccagcccctcacctgcaCcatgggttgatggtgctgct	5	10	11	15	0	1	1	1	1	0	0	1	1	1	1	5	2	5	4	5	2	0	1			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr17:73832286C>T	uc002jpp.3	-	15	1821	c.1441G>A	c.(1441-1443)Gtg>Atg	p.V481M	UNC13D_uc010wsk.1_Missense_Mutation_p.V481M|UNC13D_uc002jpq.1_Missense_Mutation_p.V131M|UNC13D_uc010dgq.1_Missense_Mutation_p.V277M	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.	481	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTCACCTGCACCATGGGTTGA	0.667									Familial Hemophagocytic Lymphohistiocytosis				5	27					0	0	1	0	0	T	73832286	C	T	73832286	3	4	54	1	0	0	0	0	1	0	0	0	16984	507	18	3	1899	3	UNC13D	17	73832286	Missense_Mutation	SNP	C	TCGA-DH-A66F-01A-11D-A29Q-08	57511123	73832286	7362924	22	2285											
UNC13A	23025	broad.mit.edu	37	chr19	17752214	17752214	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtctcacgtcatggcttggTagatggactcgacgccgtag	8	10	13	10	4	2	1	2	0	1	1	4	3	2	2	1	3	0	3	1	3	2	3			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr19:17752214T>C	uc021uqk.1	-	20	2663	c.2621A>G	c.(2620-2622)tAc>tGc	p.Y874C		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	875					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CATGGCTTGGTAGATGGACTC	0.592													24	40					0	0	1	0	0	C	17752214	T	C	17752214	3	2	54	1	0	0	0	0	1	0	0	0	16981	1638	57	3	2579	3	UNC13A	19	17752214	Missense_Mutation	SNP	T	TCGA-DH-A66F-01A-11D-A29Q-08		17752214	41376769	23	2286											
CIC	23152	broad.mit.edu	37	chr19	42792001	42792001	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccacccagattggaagTggtgcaacaaggaccgaaag	14	4	13	10	1	0	1	0	0	0	1	0	4	0	3	3	4	2	1	3	4	4	1			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr19:42792001T>C	uc002otf.1	+	5	845	c.805T>C	c.(805-807)Tgg>Cgg	p.W269R		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGATTGGAAGTGGTGCAACAA	0.632			"Mis, F, S"		oligodendroglioma								6	4					0	0	1	0	0	C	42792001	T	C	42792001	3	2	54	1	0	0	0	0	1	0	0	0	3424	1696	59	3	827	3	CIC	19	42792001	Missense_Mutation	SNP	T	TCGA-DH-A66F-01A-11D-A29Q-08	25039787	42792001	16336982	24	2287											
KIR2DL1	3802	broad.mit.edu	37	chr19	55285048	55285048	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcactccccctatcaggtgTcagctcccagtgaccctctg	6	10	7	18	0	4	1	3	1	1	0	6	1	6	1	4	1	1	1	4	1	1	1			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr19:55285048T>A	uc010erz.1	+	2	372	c.334T>A	c.(334-336)Tca>Aca	p.S112T	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron|GQ422373_uc021vbl.1_5'Flank|KIR2DL1_uc002qhb.1_Missense_Mutation_p.S112T	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	112					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CTATCAGGTGTCAGCTCCCAG	0.522													86	113					0	0	1	0	0	A	55285048	T	A	55285048	3	1	54	1	0	0	0	0	1	0	0	0	8316	1667	58	5	344	5	KIR2DL1	19	55285048	Missense_Mutation	SNP	T	TCGA-DH-A66F-01A-11D-A29Q-08	12493047	55285048	3843935	25	2288											
FOXS1	2307	broad.mit.edu	37	chr20	30432674	30432674	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaaaactctcagcctctgaGaagccggcaggaaagccaaa	15	6	9	11	1	2	1	1	1	2	1	3	3	2	2	3	2	4	1	3	2	5	1			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr20:30432674G>A	uc002wwt.1	-	0	747	c.672C>T	c.(670-672)ttC>ttT	p.F224F		NM_004118	NP_004109	O43638	FOXS1_HUMAN	Homo sapiens forkhead box S1 (FOXS1), mRNA.	224					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CAGCCTCTGAGAAGCCGGCAG	0.587													6	85					0	0	1	0	0	A	30432674	G	A	30432674	2	1	54	1	0	0	0	0	0	0	0	1	6035	933	33	3		3	FOXS1	20	30432674	Silent	SNP	G	TCGA-DH-A66F-01A-11D-A29Q-08		30432674	32592846	26	2289											
ZNF335	63925	broad.mit.edu	37	chr20	44578967	44578967	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttcctcccatcaggactGtgcagccgctggatgtggaa	8	9	12	12	1	1	0	1	0	0	0	3	4	3	3	3	3	2	2	3	3	1	1			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr20:44578967G>C	uc002xqw.3	-	21	3501	c.3378C>G	c.(3376-3378)caC>caG	p.H1126Q	ZNF335_uc002xqv.3_Missense_Mutation_p.H238Q|ZNF335_uc010zxk.2_Missense_Mutation_p.H971Q	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	1126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CATCAGGACTGTGCAGCCGCT	0.582													55	73					0	0	1	0	0	C	44578967	G	C	44578967	3	2	54	1	0	0	0	0	1	0	0	0	17849	1368	48	5	678	5	ZNF335	20	44578967	Missense_Mutation	SNP	G	TCGA-DH-A66F-01A-11D-A29Q-08	14146293	44578967	18446553	27	2290											
SYNJ1	8867	broad.mit.edu	37	chr21	34038343	34038343	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagcaaagtggctacagacGaagcaaaggctggttgtatg	13	7	14	7	1	0	1	0	0	0	1	0	2	0	1	0	3	3	7	0	3	5	3			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr21:34038343G>A	uc002yqh.2	-	16	2172	c.2172C>T	c.(2170-2172)ttC>ttT	p.F724F	SYNJ1_uc011ads.1_Silent_p.F680F|SYNJ1_uc002yqf.2_Silent_p.F685F|SYNJ1_uc002yqg.2_Silent_p.F680F|SYNJ1_uc002yqi.2_Silent_p.F724F	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	685	Catalytic (Potential).						RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GGCTACAGACGAAGCAAAGGC	0.423													11	21					0	0	1	0	0	A	34038343	G	A	34038343	2	1	54	1	0	0	0	0	0	0	0	1	15449	1049	37	2		2	SYNJ1	21	34038343	Silent	SNP	G	TCGA-DH-A66F-01A-11D-A29Q-08		34038343	14091552	28	2291											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	6	9	9	17	2	2	0	0	0	2	0	6	2	4	2	5	2	2	0	5	2	2	1	rs145580328	byFrequency	TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chrX:37028425A>G	uc004ddl.2	+	0	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	648								p.N648D(11)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													6	101					0	0	1	0	0	G	37028425	A	G	37028425	3	3	54	1	0	0	0	0	1	0	0	0	5571	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-DH-A66F-01A-11D-A29Q-08		37028425	118242135	29	2292											
FLG	2312	broad.mit.edu	37	chr1	152278733	152278733	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctggacccctctgattGtccctggactgcctgtgagt	4	13	10	14	0	2	2	0	2	2	0	4	4	3	4	5	2	1	0	5	2	0	1			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr1:152278733G>T	uc001ezu.1	-	2	8665	c.8629C>A	c.(8629-8631)Caa>Aaa	p.Q2877K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2877	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTCTGATTGTCCCTGGACT	0.577									Ichthyosis				63	263					1.07576e-66	1.154e-66	0.048971	1	0	T	152278733	G	T	152278733	3	4	55	1	0	0	0	0	1	0	0	0	5922	1386	48	5	3560	5	FLG	1	152278733	Missense_Mutation	SNP	G	TCGA-DU-5847-01A-11D-1705-08		152278733	96971888	1	2293											
CRNN	49860	broad.mit.edu	37	chr1	152382287	152382287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgcccttctgtcacacagCgccttgggtgagtgctgctc	4	11	11	15	1	2	1	1	1	1	0	3	1	2	1	3	1	4	2	3	1	0	2	rs150002541	by1000genomes	TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr1:152382287C>T	uc001ezx.2	-	2	1345	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	424					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCACACAGCGCCTTGGGTG	0.602													17	37					0	0	0.028581	0	0	T	152382287	C	T	152382287	3	4	55	1	0	0	0	0	1	0	0	0	3892	768	27	1	220	1	CRNN	1	152382287	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08	103554	152382287	96868334	2	2294											
C4BPB	725	broad.mit.edu	37	chr1	207265091	207265091	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtgcaatgaccactacaTcctcaagggcagcaatcgga	13	8	9	11	1	1	1	1	1	0	0	3	2	2	2	2	2	3	3	2	2	5	2			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr1:207265091T>A	uc009xcd.3	+	2	625	c.305T>A	c.(304-306)aTc>aAc	p.I102N	C4BPB_uc001hfi.3_Missense_Mutation_p.I111N|C4BPB_uc001hfj.3_Missense_Mutation_p.I112N|C4BPB_uc001hfl.3_Missense_Mutation_p.I112N|C4BPB_uc001hfk.3_Missense_Mutation_p.I111N|C4BPB_uc001hfm.3_Missense_Mutation_p.I112N|C4BPB_uc010pse.1_Missense_Mutation_p.I102N	NM_001017366	NP_001017366	P20851	C4BPB_HUMAN	Homo sapiens complement component 4 binding protein, beta (C4BPB), transcript variant 4, mRNA.	112	Sushi 2.		K -> Q (in dbSNP:rs56258224).		blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						GACCACTACATCCTCAAGGGC	0.493													7	57					0	0	0.038147	0	0	A	207265091	T	A	207265091	3	1	55	1	0	0	0	0	1	0	0	0	2250	1435	50	5	345	5	C4BPB	1	207265091	Missense_Mutation	SNP	T	TCGA-DU-5847-01A-11D-1705-08	54882804	207265091	41985530	3	2295											
PARP1	142	broad.mit.edu	37	chr1	226553737	226553737	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatgatctcggcttcttcaGaatctctgtcaaccacctgg	8	13	8	12	1	5	3	2	2	3	1	7	3	5	3	2	2	1	1	2	2	2	2			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr1:226553737G>C	uc001hqd.4	-	17	2594	c.2423C>G	c.(2422-2424)tCt>tGt	p.S808C		NM_001618	NP_001609	P09874	PARP1_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.	808	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|NAD+ ADP-ribosyltransferase activity|identical protein binding|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GGCTTCTTCAGAATCTCTGTC	0.448								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					3	45					0	0	0.004672	0	0	C	226553737	G	C	226553737	3	2	55	1	0	0	0	0	1	0	0	0	11454	942	33	5	645	5	PARP1	1	226553737	Missense_Mutation	SNP	G	TCGA-DU-5847-01A-11D-1705-08	19288646	226553737	22696884	4	2296											
APOB	338	broad.mit.edu	37	chr2	21226162	21226162	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctcatcagattcccggacCctcaactcagttttgaatat	10	13	5	13	1	4	2	4	1	0	1	6	3	6	3	3	1	1	1	3	1	3	4			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr2:21226162C>T	uc002red.3	-	28	12260	c.12132G>A	c.(12130-12132)agG>agA	p.R4044R		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4044					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATTCCCGGACCCTCAACTCAG	0.393													105	232					0	0	0.048971	0	0	T	21226162	C	T	21226162	2	4	55	1	0	0	0	0	0	0	0	1	785	622	22	3		3	APOB	2	21226162	Silent	SNP	C	TCGA-DU-5847-01A-11D-1705-08		21226162	221973211	5	2297											
POTEF	728378	broad.mit.edu	37	chr2	130832726	130832726	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagttggtgatgatgccGtgttccatggggtacttcag	6	13	13	9	1	1	2	1	2	0	0	3	2	3	2	3	3	2	3	3	3	1	4			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr2:130832726G>A	uc010fmh.2	-	16	2719	c.2319C>T	c.(2317-2319)caC>caT	p.H773H		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	773	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TGATGATGCCGTGTTCCATGG	0.582													37	89					0	0	0.09836	0	0	A	130832726	G	A	130832726	2	1	55	1	0	0	0	0	0	0	0	1	12265	1136	40	1		1	POTEF	2	130832726	Silent	SNP	G	TCGA-DU-5847-01A-11D-1705-08	109606564	130832726	112366647	6	2298											
MFSD6	54842	broad.mit.edu	37	chr2	191301884	191301884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgtcttcatcgtcttcggcGttctcatgaccatggccttg	4	15	9	13	4	4	1	2	1	3	0	8	1	4	1	2	2	0	1	2	2	0	4			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr2:191301884G>A	uc002urz.2	+	2	1453	c.1129G>A	c.(1129-1131)Gtt>Att	p.V377I		NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	Homo sapiens major facilitator superfamily domain containing 6 (MFSD6), mRNA.	377					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						CGTCTTCGGCGTTCTCATGAC	0.512													19	29					0	0	0.038395	0	0	A	191301884	G	A	191301884	3	1	55	1	0	0	0	0	1	0	0	0	9535	1145	40	1	1131	1	MFSD6	2	191301884	Missense_Mutation	SNP	G	TCGA-DU-5847-01A-11D-1705-08	60469158	191301884	51897489	7	2299											
SLC25A38	54977	broad.mit.edu	37	chr3	39431997	39431997	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttggaaagggatgtcccCtgtaagctgccatctgggtc	7	11	12	11	0	1	0	0	0	1	0	3	2	2	2	4	3	2	2	4	3	2	2			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr3:39431997C>T	uc003cjo.2	+	3	677	c.276_splice	c.e3+1	p.P92_splice		NM_017875	NP_060345	Q96DW6	S2538_HUMAN	Homo sapiens solute carrier family 25, member 38 (SLC25A38), nuclear gene encoding mitochondrial protein, mRNA.	92					erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GGGATGTCCCCTGTAAGCTGC	0.478													13	53					0	0	0.09319	0	0	T	39431997	C	T	39431997	5	4	55	1	0	0	0	0	0	0	1	0	14502	695	24	3	285	3	SLC25A38	3	39431997	Splice_Site	SNP	C	TCGA-DU-5847-01A-11D-1705-08		39431997	158590433	8	2300											
KDR	3791	broad.mit.edu	37	chr4	55956204	55956204	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attttaaccacgttcttctcCgataagaggatatttcgtgc	10	15	7	9	3	2	1	0	0	2	1	4	3	2	2	2	1	2	1	2	1	3	7	rs147630437		TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr4:55956204C>T	uc003has.3	-	22	3413	c.3111G>A	c.(3109-3111)tcG>tcA	p.S1037S	KDR_uc003hat.1_Silent_p.S1037S	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1037	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CGTTCTTCTCCGATAAGAGGA	0.428			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			27	49					0	0	0.108266	0	0	T	55956204	C	T	55956204	2	4	55	1	0	0	0	0	0	0	0	1	8139	639	23	2		2	KDR	4	55956204	Silent	SNP	C	TCGA-DU-5847-01A-11D-1705-08		55956204	135198072	9	2301											
SEC31A	22872	broad.mit.edu	37	chr4	83763471	83763471	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaggtaggtgaagaggcctgGtgctgtgctgcgtacagctg	7	9	18	7	1	0	2	0	1	0	1	0	3	0	2	1	4	5	5	1	4	3	2			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr4:83763471G>C	uc003hnh.3	-	21	2970	c.2790C>G	c.(2788-2790)caC>caG	p.H930Q	SEC31A_uc003hnd.3_Missense_Mutation_p.H86Q|SEC31A_uc003hne.3_Missense_Mutation_p.H694Q|SEC31A_uc011ccl.2_Missense_Mutation_p.H891Q|SEC31A_uc003hnl.3_Intron|SEC31A_uc003hng.3_Missense_Mutation_p.H930Q|SEC31A_uc011ccm.2_Missense_Mutation_p.H925Q|SEC31A_uc003hni.3_Intron|SEC31A_uc003hnk.3_Missense_Mutation_p.H891Q|SEC31A_uc003hnf.3_Missense_Mutation_p.H930Q|SEC31A_uc011ccn.2_Missense_Mutation_p.H930Q|SEC31A_uc003hnm.3_Missense_Mutation_p.H930Q	NM_014933	NP_055748	O94979	SC31A_HUMAN	Homo sapiens SEC31 homolog A (S. cerevisiae) (SEC31A), transcript variant 1, mRNA.	930	Interaction with PDCD6.|Pro-rich.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				AAGAGGCCTGGTGCTGTGCTG	0.552													10	16					0	0	0.058154	0	0	C	83763471	G	C	83763471	3	2	55	1	0	0	0	0	1	0	0	0	13998	1252	44	5	896	5	SEC31A	4	83763471	Missense_Mutation	SNP	G	TCGA-DU-5847-01A-11D-1705-08	27807267	83763471	107390805	10	2302											
RXFP1	59350	broad.mit.edu	37	chr4	159526262	159526262	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaagcttcctcctgattgCttcaagaattatcatgatct	12	14	6	9	0	3	4	2	2	1	2	5	4	5	4	2	0	2	2	2	0	4	4			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr4:159526262C>T	uc003ipz.3	+	4	698	c.435C>T	c.(433-435)tgC>tgT	p.C145C	RXFP1_uc010iqj.2_5'UTR|RXFP1_uc010iqk.3_5'UTR|RXFP1_uc011cja.2_Silent_p.C64C|RXFP1_uc010iqo.3_Silent_p.C145C|RXFP1_uc011cjb.2_Silent_p.C91C|RXFP1_uc011cjc.2_Silent_p.C64C|RXFP1_uc011cjd.2_Silent_p.C64C|RXFP1_uc010iql.3_5'UTR|RXFP1_uc011cje.2_Silent_p.C172C|RXFP1_uc010iqm.3_Silent_p.C112C|RXFP1_uc011cjf.2_Silent_p.C15C|RXFP1_uc010iqn.3_Silent_p.C91C	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	145						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CTCCTGATTGCTTCAAGAATT	0.299													10	24					0	0	0.080935	0	0	T	159526262	C	T	159526262	2	4	55	1	0	0	0	0	0	0	0	1	13759	805	28	3		3	RXFP1	4	159526262	Silent	SNP	C	TCGA-DU-5847-01A-11D-1705-08	75762791	159526262	31628014	11	2303											
ZFP42	132625	broad.mit.edu	37	chr4	188924355	188924355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaggggtaaagaaagagcttCcacaaaagatagttggagag	18	6	13	4	0	0	4	0	0	0	4	1	5	1	4	1	3	1	3	1	3	7	4			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr4:188924355C>T	uc003izh.1	+	3	802	c.394C>T	c.(394-396)Cca>Tca	p.P132S	ZFP42_uc003izi.1_Missense_Mutation_p.P132S|ZFP42_uc021xvm.1_Missense_Mutation_p.P132S	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	132					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAAGAGCTTCCACAAAAGAT	0.418													46	76					0	0	0.045515	0	0	T	188924355	C	T	188924355	3	4	55	1	0	0	0	0	1	0	0	0	17647	855	30	3	396	3	ZFP42	4	188924355	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08	29398093	188924355	2229921	12	2304											
PCDHB13	56123	broad.mit.edu	37	chr5	140594885	140594885	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccttcctcctgaaatccgCggaaaacttttacaccctac	11	10	4	16	2	0	1	0	1	0	0	3	2	3	2	5	1	3	0	5	1	5	4			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr5:140594885C>T	uc003lja.1	+	0	1377	c.1190C>T	c.(1189-1191)gCg>gTg	p.A397V		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	397	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGAAATCCGCGGAAAACTTT	0.453													25	52					0	0	0.083992	0	0	T	140594885	C	T	140594885	3	4	55	1	0	0	0	0	1	0	0	0	11538	768	27	1	1192	1	PCDHB13	5	140594885	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08		140594885	40320375	13	2305											
GRM6	2916	broad.mit.edu	37	chr5	178418950	178418950	+	Missense_Mutation	SNP	C	C	A																															gccagcgtggacacatagttCcatcccagtgccctcacgat																										TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr5:178418950C>A	uc003mjr.3	-	1	818	c.639G>T	c.(637-639)tgG>tgT	p.W213C	GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	213					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		ACACATAGTTCCATCCCAGTG	0.622													9	21					2.74318e-10	2.83943e-10	0.058154	1	0	A	178418950	C	A	178418950	3	1	55	1	0	0	0	0	1	0	0	0	6801	856	30	5	2030	5	GRM6	5	178418950	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08	37824065	178418950	2496310	14	2306	8	2									
GRM6	2916	broad.mit.edu	37	chr5	178418951	178418951	+	Nonsense_Mutation	SNP	C	C	T																															ccagcgtggacacatagttcCatcccagtgccctcacgatg																										TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr5:178418951C>T	uc003mjr.3	-	1	817	c.638G>A	c.(637-639)tGg>tAg	p.W213*	GRM6_uc010jla.1_5'Flank|GRM6_uc003mjs.1_5'Flank	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	213					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CACATAGTTCCATCCCAGTGC	0.627													9	20					0	0	0.058154	0	0	T	178418951	C	T	178418951	4	4	55	1	0	0	0	0	0	1	0	0	6801	595	21	3	2031	3	GRM6	5	178418951	Nonsense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08	1	178418951	2496309	15	2307	8	2									
HIVEP1	3096	broad.mit.edu	37	chr6	12122495	12122495	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctactgaaaaatcaaagcaaGtgtttcttctgtctgtacct	12	14	6	9	0	4	1	1	1	3	0	4	1	4	1	1	0	3	3	1	0	6	4			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr6:12122495G>C	uc003nac.3	+	3	2646	c.2467G>C	c.(2467-2469)Gtg>Ctg	p.V823L	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	823					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ATCAAAGCAAGTGTTTCTTCT	0.403													80	34					0	0	0.048971	0	0	C	12122495	G	C	12122495	3	2	55	1	0	0	0	0	1	0	0	0	7186	1029	36	5	2477	5	HIVEP1	6	12122495	Missense_Mutation	SNP	G	TCGA-DU-5847-01A-11D-1705-08		12122495	158992572	16	2308											
PRDM13	59336	broad.mit.edu	37	chr6	100062566	100062566	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaagagcgacgacagtgaCgtggacgtctgcttcacaga	11	6	12	12	4	2	3	1	1	1	2	2	6	2	4	1	1	2	1	1	1	1	1			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr6:100062566C>G	uc003pqg.1	+	3	2316	c.2055C>G	c.(2053-2055)gaC>gaG	p.D685E		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	Homo sapiens PR domain containing 13 (PRDM13), mRNA.	685					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D685Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		ACGACAGTGACGTGGACGTCT	0.701													21	11					0	0	0.069288	0	0	G	100062566	C	G	100062566	3	3	55	1	0	0	0	0	1	0	0	0	12454	535	19	5	2069	5	PRDM13	6	100062566	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08	87940071	100062566	71052501	17	2309											
COG5	10466	broad.mit.edu	37	chr7	107167729	107167729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgttatctctctacttcccCcttgcagttgtccttggagt	4	18	7	12	0	2	0	0	0	2	0	5	1	4	1	3	1	2	3	3	1	2	7			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr7:107167729C>T	uc003vec.2	-	5	1109	c.584G>A	c.(583-585)gGg>gAg	p.G195E	COG5_uc003ved.2_Missense_Mutation_p.G195E|COG5_uc003vee.2_Missense_Mutation_p.G195E	NM_006348	NP_006339	Q9UP83	COG5_HUMAN	Homo sapiens component of oligomeric golgi complex 5 (COG5), transcript variant 1, mRNA.	195					intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TCTACTTCCCCCTTGCAGTTG	0.338													16	15					0	0	0.038395	0	0	T	107167729	C	T	107167729	3	4	55	1	0	0	0	0	1	0	0	0	3661	623	22	3	2070	3	COG5	7	107167729	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08		107167729	51970934	18	2310											
PTEN	5728	broad.mit.edu	37	chr10	89720803	89720804	+	Frame_Shift_Ins	INS	-	-	A																															acaaggaatatctagtacttINSactttaacaaaaaatgatct																								rs146650273		TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr10:89720803_89720804insA	uc001kfb.3	+	7	1986_1987	c.954_955insA	c.(952-957)cttactfs	p.L318fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	318	C2 tensin-type.				T cell receptor signaling pathway|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 G1/S transition of mitotic cell cycle|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 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	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion 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.T319fs*1(60)|p.L318fs*2(57)|p.0?(37)|p.T319fs*6(12)|p.V317fs*3(8)|p.R55fs*1(5)|p.T319fs*24(4)|p.T319del(4)|p.V317fs*6(4)|p.L318fs*3(2)|p.T319fs*4(2)|p.W274_F341del(2)|p.V317_K322del(2)|p.T319_K332del(2)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T318fs*2(2)|p.L316fs*1(1)|p.T319fs*5(1)|p.L318F(1)|p.G165_K342del(1)|p.G165_*404del(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)		ATCTAGTACTTACTTTAACAAA	0.327		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)			57	23	---	---	---	---						A	89720804	-	A	89720803	7	5	55	1	0	1	1	0	0	0	0	0	12738	1741	61	0	984	0	PTEN	10	89720803	Frame_Shift_Ins	INS	-	TCGA-DU-5847-01A-11D-1705-08		89720803	45813944	19	2311											
ANO9	338440	broad.mit.edu	37	chr11	418583	418583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgagcttgatgcacaaggCcacgtgctagcggcagcaca	11	6	13	11	2	0	2	0	2	0	0	0	3	0	2	1	2	5	5	1	2	2	2			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr11:418583C>T	uc001lpi.2	-	22	2222	c.2137G>A	c.(2137-2139)Gcc>Acc	p.A713T	SIGIRR_uc001lpf.2_5'Flank|SIGIRR_uc001lpe.1_5'Flank|ANO9_uc001lph.2_Missense_Mutation_p.A406T|ANO9_uc010qvv.1_Missense_Mutation_p.A569T	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	Homo sapiens anoctamin 9 (ANO9), mRNA.	713						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						ATGCACAAGGCCACGTGCTAG	0.627													23	36					0	0	0.062417	0	0	T	418583	C	T	418583	3	4	55	1	0	0	0	0	1	0	0	0	704	739	26	3	215	3	ANO9	11	418583	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08		418583	134587933	20	2312											
NCKAP1L	3071	broad.mit.edu	37	chr12	54902315	54902315	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgagatgctgcatgggcatgGgtgagttaaggcgagagtat	10	10	17	4	1	0	3	0	2	0	2	0	5	0	3	0	3	2	5	0	3	2	2			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr12:54902315G>A	uc001sgc.4	+	5	585	c.506_splice	c.e5+1	p.G169_splice	NCKAP1L_uc010sox.2_Splice_Site|NCKAP1L_uc010soy.2_Splice_Site_p.G119_splice	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	169					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CATGGGCATGGGTGAGTTAAG	0.423													67	134					0	0	0.048971	0	0	A	54902315	G	A	54902315	5	1	55	1	0	0	0	0	0	0	1	0	10222	1246	43	3	524	3	NCKAP1L	12	54902315	Splice_Site	SNP	G	TCGA-DU-5847-01A-11D-1705-08		54902315	78949580	21	2313											
RB1	5925	broad.mit.edu	37	chr13	48953728	48953728	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttctttttgtttgtttgtAgcgatacaaacttggagttc	7	21	8	5	1	1	0	0	0	1	0	2	2	1	1	0	1	3	4	0	1	3	10			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr13:48953728A>G	uc001vcb.3	+	14	1499	c.1333_splice	c.e14-2	p.R445_splice		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	445	Domain A.|Pocket; binds T and E1A.				G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(10)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTTTGTTTGTAGCGATACAAA	0.333		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			9	7					0	0	0.058154	0	0	G	48953728	A	G	48953728	5	3	55	1	0	0	0	0	0	0	1	0	13098	434	15	4	1385	4	RB1	13	48953728	Splice_Site	SNP	A	TCGA-DU-5847-01A-11D-1705-08		48953728	66216150	22	2314											
GMPR2	51292	broad.mit.edu	37	chr14	24707610	24707610	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggggcgtggctgagtacAggtatgtgtggaggcccagg	6	8	20	7	1	0	1	0	1	0	0	0	2	0	2	1	7	1	3	1	7	2	2			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr14:24707610A>T	uc001wnr.3	+	9	1239	c.857_splice	c.e9+1	p.R286_splice	GMPR2_uc001wnu.2_Missense_Mutation_p.R250W|GMPR2_uc001wns.3_Splice_Site_p.R286_splice|GMPR2_uc001wnv.3_Splice_Site_p.R123_splice|GMPR2_uc010alk.1_Missense_Mutation_p.R286W|GMPR2_uc001wnw.3_Splice_Site_p.R286_splice|GMPR2_uc001wnx.3_Splice_Site_p.R304_splice|GMPR2_uc010all.3_Splice_Site_p.R258_splice|GMPR2_uc010toe.1_Missense_Mutation_p.R286W	NM_001002001	NP_001002002	Q9P2T1	GMPR2_HUMAN	Homo sapiens guanosine monophosphate reductase 2 (GMPR2), transcript variant 3, mRNA.	286					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		GGCTGAGTACAGGTATGTGTG	0.512													3	40					0	0	0.009096	0	0	T	24707610	A	T	24707610	5	4	55	1	0	0	0	0	0	0	1	0	6497	202	7	5	940	5	GMPR2	14	24707610	Splice_Site	SNP	A	TCGA-DU-5847-01A-11D-1705-08		24707610	82641930	23	2315											
MAGEL2	54551	broad.mit.edu	37	chr15	23889301	23889301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggccaaaaacctcaggaCaagcatcttgctggtttcca	11	10	8	12	0	2	0	1	0	1	0	3	1	3	1	3	3	3	3	3	3	3	3			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr15:23889301C>T	uc001ywj.4	-	0	3693	c.3589G>A	c.(3589-3591)Gtc>Atc	p.V1197I		NM_019066	NP_061939			Homo sapiens MAGE-like 2 (MAGEL2), mRNA.											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AACCTCAGGACAAGCATCTTG	0.522													19	34					0	0	0.043863	0	0	T	23889301	C	T	23889301	3	4	55	1	0	0	0	0	1	0	0	0	9189	478	17	3	164	3	MAGEL2	15	23889301	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08		23889301	78642091	24	2316											
MYO5A	4644	broad.mit.edu	37	chr15	52622645	52622645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctgggaatgttgactggtCggatgggttcatcaatgatc	8	13	13	7	1	2	2	2	2	0	0	5	4	3	4	1	4	0	2	1	4	2	2			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr15:52622645C>T	uc002aby.2	-	33	4629	c.4385G>A	c.(4384-4386)cGa>cAa	p.R1462Q	MYO5A_uc002abx.3_Missense_Mutation_p.R1435Q|MYO5A_uc010ugd.1_Missense_Mutation_p.R184Q|MYO5A_uc002abz.1_Non-coding_Transcript	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.	1462					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.R1462R(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GTTGACTGGTCGGATGGGTTC	0.418													56	96					0	0	0.048971	0	0	T	52622645	C	T	52622645	3	4	55	1	0	0	0	0	1	0	0	0	10078	884	31	2	1214	2	MYO5A	15	52622645	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08	28733344	52622645	49908747	25	2317											
OR3A2	4995	broad.mit.edu	37	chr17	3181629	3181629	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagctcattgagttgggTgctggagcaggagagctgga	9	8	17	7	0	1	2	1	1	0	1	1	5	1	4	0	4	5	6	0	4	0	2			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr17:3181629T>A	uc002fvg.3	-	0	640	c.601A>T	c.(601-603)Acc>Tcc	p.T201S		NM_002551	NP_002542	P47893	OR3A2_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 2 (OR3A2), mRNA.	201					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						TTGAGTTGGGTGCTGGAGCAG	0.552													29	60					0	0	0.050027	0	0	A	3181629	T	A	3181629	3	1	55	1	0	0	0	0	1	0	0	0	11038	1696	59	5	368	5	OR3A2	17	3181629	Missense_Mutation	SNP	T	TCGA-DU-5847-01A-11D-1705-08		3181629	78013581	26	2318											
LGALS9C	654346	broad.mit.edu	37	chr17	18396173	18396173	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccgaggccagagcttctcGgtaaggcgccgcagcctgga	7	6	15	13	4	1	1	0	0	1	1	3	3	2	2	4	4	2	3	4	4	1	2			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr17:18396173G>A	uc002gtw.3	+	10	994	c.924_splice	c.e10+1	p.S308_splice	LGALS9C_uc010vyb.2_Splice_Site_p.S220_splice	NM_001040078	NP_001035167	Q6DKI2	LEG9C_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9C (LGALS9C), mRNA.	308	Galectin 2.						sugar binding			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						AGAGCTTCTCGGTAAGGCGCC	0.592													8	19					0	0	0.020292	0	0	A	18396173	G	A	18396173	5	1	55	1	0	0	0	0	0	0	1	0	8750	1130	39	2	962	2	LGALS9C	17	18396173	Splice_Site	SNP	G	TCGA-DU-5847-01A-11D-1705-08	15214544	18396173	62799037	27	2319											
NF1	4763	broad.mit.edu	37	chr17	29497016	29497016	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attaaaacgactcctgaaggGtaagtttaaatgtataatat	17	13	7	4	1	0	1	0	1	0	0	1	2	1	1	1	1	1	3	1	1	9	7			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr17:29497016G>A	uc002hgg.3	+	5	969	c.586_splice	c.e5+1	p.E196_splice	NF1_uc002hge.2_Splice_Site_p.E196_splice|NF1_uc002hgf.2_Splice_Site_p.E196_splice|NF1_uc002hgh.3_Splice_Site_p.E196_splice|NF1_uc010csn.2_Intron	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	196					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTCCTGAAGGGTAAGTTTAAA	0.289			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			14	34					0	0	0.105934	0	0	A	29497016	G	A	29497016	5	1	55	1	0	0	0	0	0	0	1	0	10356	1275	44	3	605	3	NF1	17	29497016	Splice_Site	SNP	G	TCGA-DU-5847-01A-11D-1705-08	11100843	29497016	51698194	28	2320											
NF1	4763	broad.mit.edu	37	chr17	29677227	29677227	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttacagtgtctgaagaagttCgaagtcgctgcagcctaaaa	13	10	10	8	2	1	2	0	1	1	1	3	3	1	2	1	0	3	3	1	0	6	3			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr17:29677227C>T	uc002hgg.3	+	49	7731	c.7348C>T	c.(7348-7350)Cga>Tga	p.R2450*	NF1_uc002hgh.3_Nonsense_Mutation_p.R2429*|NF1_uc010cso.3_Nonsense_Mutation_p.R638*|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_Non-coding_Transcript	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2450					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.R2450*(11)|p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGAAGAAGTTCGAAGTCGCTG	0.363			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			39	72					0	0	0.086207	0	0	T	29677227	C	T	29677227	4	4	55	1	0	0	0	0	0	1	0	0	10356	876	31	2	7607	2	NF1	17	29677227	Nonsense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08	180211	29677227	51517983	29	2321											
SLC16A5	9121	broad.mit.edu	37	chr17	73096729	73096729	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactaacctggtgtgtgcggCatcaggtgacttctgggtgc	6	11	14	10	1	2	1	1	1	1	0	2	1	2	1	1	4	3	1	1	4	1	2			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr17:73096729C>G	uc002jmr.3	+	4	1343	c.971C>G	c.(970-972)gCa>gGa	p.A324G	SLC16A5_uc002jmt.3_Missense_Mutation_p.A324G|SLC16A5_uc002jmu.3_Missense_Mutation_p.A324G|SLC16A5_uc010wrt.2_Missense_Mutation_p.A364G	NM_004695	NP_004686	O15375	MOT6_HUMAN	Homo sapiens solute carrier family 16, member 5 (monocarboxylic acid transporter 6) (SLC16A5), mRNA.	324					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GTGTGTGCGGCATCAGGTGAC	0.617													284	496					0	0	0.048971	0	0	G	73096729	C	G	73096729	3	3	55	1	0	0	0	0	1	0	0	0	14411	710	25	5	981	5	SLC16A5	17	73096729	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08	43419502	73096729	8098481	30	2322											
DSG2	1829	broad.mit.edu	37	chr18	29099849	29099849	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcctggatcaccgccccCgtggctcttcgggagggaga	5	6	15	15	5	2	1	1	0	1	1	3	4	2	3	4	4	0	1	4	4	0	1			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr18:29099849C>T	uc002kwu.4	+	2	353	c.165C>T	c.(163-165)ccC>ccT	p.P55P		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	55	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TCACCGCCCCCGTGGCTCTTC	0.443													31	40					0	0	0.045705	0	0	T	29099849	C	T	29099849	2	4	55	1	0	0	0	0	0	0	0	1	4777	639	23	2		2	DSG2	18	29099849	Silent	SNP	C	TCGA-DU-5847-01A-11D-1705-08		29099849	48977399	31	2323											
CCDC159	126075	broad.mit.edu	37	chr19	11462650	11462650	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatctatcagaagctccGtgagttcctggagcccacag	9	10	9	13	1	3	2	2	1	1	1	5	3	5	3	3	1	2	2	3	1	2	3			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr19:11462650G>A	uc010xlw.1	+	7	818	c.739_splice	c.e7+1	p.Q247_splice	CCDC159_uc010xls.2_Splice_Site_p.Q164_splice|CCDC159_uc010xlt.2_Splice_Site_p.Q164_splice|CCDC159_uc010xlv.2_Splice_Site_p.Q163_splice	NM_001080503	NP_001073972	P0C7I6	CC159_HUMAN	Homo sapiens coiled-coil domain containing 159 (CCDC159), mRNA.	279										endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						CAGAAGCTCCGTGAGTTCCTG	0.612													8	11					0	0	0.047766	0	0	A	11462650	G	A	11462650	5	1	55	1	0	0	0	0	0	0	1	0	2791	1159	40	1	513	1	CCDC159	19	11462650	Splice_Site	SNP	G	TCGA-DU-5847-01A-11D-1705-08		11462650	47666333	32	2324											
ZNF429	353088	broad.mit.edu	37	chr19	21720518	21720518	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcctcaagacttactcaaCataagaaaattcatactgga	16	10	6	9	0	3	2	3	0	0	2	4	3	4	3	1	2	3	0	1	2	7	4			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr19:21720518C>A	uc002nqd.1	+	3	1800	c.1663C>A	c.(1663-1665)Cat>Aat	p.H555N	ZNF429_uc010ecu.2_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	Homo sapiens zinc finger protein 429 (ZNF429), mRNA.	555					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						ACTTACTCAACATAAGAAAAT	0.353													14	42					1.3612e-06	1.38467e-06	0.024245	1	0	A	21720518	C	A	21720518	3	1	55	1	0	0	0	0	1	0	0	0	17899	478	17	5	1677	5	ZNF429	19	21720518	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08	10257868	21720518	37408465	33	2325											
ZNF536	9745	broad.mit.edu	37	chr19	30935048	30935048	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggggcgtgggcgtgtgcgCgaggagaaccgcctgctgca	7	5	19	10	5	0	1	0	0	0	1	0	3	0	1	2	4	4	2	2	4	2	0			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr19:30935048C>T	uc002nsu.1	+	1	717	c.579C>T	c.(577-579)cgC>cgT	p.R193R	ZNF536_uc010edd.1_Silent_p.R193R	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCGTGTGCGCGAGGAGAACC	0.692													4	6					0	0	0.009096	0	0	T	30935048	C	T	30935048	2	4	55	1	0	0	0	0	0	0	0	1	17971	755	27	1		1	ZNF536	19	30935048	Silent	SNP	C	TCGA-DU-5847-01A-11D-1705-08	9214530	30935048	28193935	34	2326											
SPTBN4	57731	broad.mit.edu	37	chr19	40998962	40998962	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtcagatgaagacagctggGtaagcacccccaccaccttc	11	7	9	14	0	1	3	1	1	0	2	2	3	1	3	4	1	2	3	4	1	2	2			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr19:40998962G>A	uc002ony.3	+	5	673	c.587_splice	c.e5+1	p.G196_splice	SPTBN4_uc002onx.3_Splice_Site_p.G196_splice|SPTBN4_uc002onz.3_Splice_Site_p.G196_splice	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	196	Actin-binding.|CH 2.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGACAGCTGGGTAAGCACCCC	0.522													5	18					0	0	0.021553	0	0	A	40998962	G	A	40998962	5	1	55	1	0	0	0	0	0	0	1	0	15120	1275	44	3	602	3	SPTBN4	19	40998962	Splice_Site	SNP	G	TCGA-DU-5847-01A-11D-1705-08	10063914	40998962	18130021	35	2327											
UCKL1	54963	broad.mit.edu	37	chr20	62577859	62577859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcattgtaccagggcggcCgcccggcggtgtagatggta	6	9	16	10	4	1	1	1	0	0	1	1	1	1	1	3	5	1	4	3	5	3	5			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr20:62577859C>T	uc010gkn.3	-	1	326	c.251G>A	c.(250-252)cGg>cAg	p.R84Q	UCKL1_uc011abm.2_Missense_Mutation_p.R69Q|UCKL1_uc011abn.2_Non-coding_Transcript|UCKL1_uc011abo.2_Non-coding_Transcript	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	Homo sapiens uridine-cytidine kinase 1-like 1 (UCKL1), transcript variant 1, mRNA.	84					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCAGGGCGGCCGCCCGGCGGT	0.677													17	14					0	0	0.0333	0	0	T	62577859	C	T	62577859	3	4	55	1	0	0	0	0	1	0	0	0	16922	652	23	2	1451	2	UCKL1	20	62577859	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08		62577859	447661	36	2328											
CXorf22	170063	broad.mit.edu	37	chrX	35985795	35985795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtcaaagacttggcaaaaCgcaagaattatgcacctgta	15	9	9	8	1	1	2	1	0	0	2	1	2	1	2	1	2	2	4	1	2	7	3			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chrX:35985795C>T	uc004ddj.3	+	9	1726	c.1660C>T	c.(1660-1662)Cgc>Tgc	p.R554C	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	554								p.R554R(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CTTGGCAAAACGCAAGAATTA	0.393													16	51					0	0	0.0333	0	0	T	35985795	C	T	35985795	3	4	55	1	0	0	0	0	1	0	0	0	4102	536	19	1	1698	1	CXorf22	23	35985795	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08		35985795	119284765	37	2329											
APEX2	27301	broad.mit.edu	37	chrX	55033526	55033526	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctcccctagctgtccccaAgcctctcctgacatagagct	7	9	6	19	0	1	2	0	1	1	1	4	2	3	2	7	0	3	2	7	0	3	2			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chrX:55033526A>T	uc004dtz.3	+	5	1291	c.1215A>T	c.(1213-1215)caA>caT	p.Q405H	APEX2_uc011mom.2_Missense_Mutation_p.Q234H	NM_014481	NP_055296	Q9UBZ4	APEX2_HUMAN	Homo sapiens APEX nuclease (apurinic/apyrimidinic endonuclease) 2 (APEX2), nuclear gene encoding mitochondrial protein, mRNA.	405					DNA recombination|DNA repair|cell cycle	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						GCTGTCCCCAAGCCTCTCCTG	0.587								Other BER factors					9	18					0	0	0.047766	0	0	T	55033526	A	T	55033526	3	4	55	1	0	0	0	0	1	0	0	0	770	69	3	5	1237	5	APEX2	23	55033526	Missense_Mutation	SNP	A	TCGA-DU-5847-01A-11D-1705-08	19047731	55033526	100237034	38	2330											
OPHN1	4983	broad.mit.edu	37	chrX	67283790	67283790	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggcatgggtccattggtGgcctttggggtgatcttggt	3	14	16	8	0	1	1	0	1	1	0	2	1	2	1	3	7	0	1	3	7	0	3			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chrX:67283790G>T	uc004dww.4	-	20	2358	c.2064C>A	c.(2062-2064)gcC>gcA	p.A688A	OPHN1_uc011mpg.2_Intron	NM_002547	NP_002538	O60890	OPHN1_HUMAN	Homo sapiens oligophrenin 1 (OPHN1), mRNA.	688	Pro-rich.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GTCCATTGGTGGCCTTTGGGG	0.607													13	26					1.5739e-10	1.65821e-10	0.028581	1	0	T	67283790	G	T	67283790	2	4	55	1	0	0	0	0	0	0	0	1	10875	1335	47	5		5	OPHN1	23	67283790	Silent	SNP	G	TCGA-DU-5847-01A-11D-1705-08	12250264	67283790	87986770	39	2331											
ACSL4	2182	broad.mit.edu	37	chrX	108921235	108921235	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctggtcagagagtgtaagCggagaagaatatccaatcct	14	8	11	8	1	1	3	1	0	0	3	3	5	3	3	3	2	1	1	3	2	5	2			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chrX:108921235C>T	uc004eoi.2	-	8	1540	c.1035G>A	c.(1033-1035)ccG>ccA	p.P345P	ACSL4_uc004eoj.2_Silent_p.P304P|ACSL4_uc004eok.2_Silent_p.P304P|ACSL4_uc010npp.1_Silent_p.P345P	NM_022977	NP_004449	O60488	ACSL4_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 4 (ACSL4), transcript variant 2, mRNA.	345					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.P345P(2)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	AGAGTGTAAGCGGAGAAGAAT	0.428													55	83					0	0	0.048971	0	0	T	108921235	C	T	108921235	2	4	55	1	0	0	0	0	0	0	0	1	179	755	27	1		1	ACSL4	23	108921235	Silent	SNP	C	TCGA-DU-5847-01A-11D-1705-08	41637445	108921235	46349325	40	2332											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685930	125685930	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaacttgtccgggtccatcCgccacagcgccacagtgccg	7	6	11	17	5	0	0	0	0	0	0	3	1	3	0	6	1	3	0	6	1	1	1			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chrX:125685930C>T	uc022cds.1	-	0	662	c.662G>A	c.(661-663)cGg>cAg	p.R221Q	DCAF12L1_uc004eul.3_Missense_Mutation_p.R221Q	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	221										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CGGGTCCATCCGCCACAGCGC	0.657													17	25					0	0	0.0333	0	0	T	125685930	C	T	125685930	3	4	55	1	0	0	0	0	1	0	0	0	4264	652	23	2	733	2	DCAF12L1	23	125685930	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08	16764695	125685930	29584630	41	2333											
CXorf40B	541578	broad.mit.edu	37	chrX	149100914	149100914	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttggtcagtgcagcttgatTttctagttccacaacctcat	8	15	8	10	0	3	1	2	1	1	0	4	1	4	1	2	1	3	4	2	1	2	6			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chrX:149100914T>A	uc004fdy.3	-	4	841	c.325A>T	c.(325-327)Aat>Tat	p.N109Y	CXorf40B_uc011mxs.1_Non-coding_Transcript	NM_001013845	NP_001013867	Q96DE9	CX04B_HUMAN	Homo sapiens chromosome X open reading frame 40B (CXorf40B), mRNA.	109										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGCTTGATTTTCTAGTTCC	0.473													39	65					0	0	0.080422	0	0	A	149100914	T	A	149100914	3	1	55	1	0	0	0	0	1	0	0	0	4109	1841	64	5	155	5	CXorf40B	23	149100914	Missense_Mutation	SNP	T	TCGA-DU-5847-01A-11D-1705-08	23414984	149100914	6169646	42	2334											
FUBP1	8880	broad.mit.edu	37	chr1	78444686	78444686	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactgttgaatagtctgcCatggttgcactataagagcc	10	11	11	9	0	1	2	0	1	1	1	1	2	1	2	2	2	3	4	2	2	4	5			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr1:78444686C>A	uc001dii.3	-	0	92	c.3G>T	c.(1-3)atG>atT	p.M1I	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Missense_Mutation_p.M1I|DNAJB4_uc010orn.2_5'Flank	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	1					transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AATAGTCTGCCATGGTTGCAC	0.542			"F, N"		oligodendroglioma								5	21					0.184627	0.187924	0.184627	1	0	A	78444686	C	A	78444686	3	1	56	1	0	0	0	0	1	0	0	0	6092	594	21	5	2011	5	FUBP1	1	78444686	Missense_Mutation	SNP	C	TCGA-DU-5849-01A-11D-1705-08		78444686	170805935	1	2335											
COPA	1314	broad.mit.edu	37	chr1	160268752	160268752	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaataatagactggccaacTagtttggcattcctcaccat	12	11	7	11	0	1	1	1	0	0	1	2	1	2	1	3	2	1	3	3	2	5	5			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr1:160268752T>C	uc001fvv.4	-	18	2281	c.1887A>G	c.(1885-1887)ctA>ctG	p.L629L	COPA_uc009wti.3_Silent_p.L620L	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	620					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACTGGCCAACTAGTTTGGCAT	0.443													16	62					0	0	0.539581	0	0	C	160268752	T	C	160268752	2	2	56	1	0	0	0	0	0	0	0	1	3727	1509	53	4		4	COPA	1	160268752	Silent	SNP	T	TCGA-DU-5849-01A-11D-1705-08	81824066	160268752	88981869	2	2336											
VRK2	7444	broad.mit.edu	37	chr2	58311264	58311264	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaaagatgcaagacatgtAgtaaaagtggtaagtgttgc	16	9	13	3	0	0	3	0	0	0	3	0	4	0	3	0	1	2	5	0	1	6	4			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr2:58311264A>G	uc002rzo.2	+	5	922	c.177A>G	c.(175-177)gtA>gtG	p.V59V	VRK2_uc010fcb.2_Silent_p.V59V|VRK2_uc002rzt.3_5'UTR|VRK2_uc002rzs.3_Silent_p.V59V|VRK2_uc002rzv.3_Silent_p.V59V|VRK2_uc010fcd.3_Silent_p.V36V|VRK2_uc002rzu.3_Silent_p.V59V|VRK2_uc010fcc.3_5'UTR|VRK2_uc002rzp.3_Silent_p.V59V|VRK2_uc010ypg.2_Silent_p.V59V|VRK2_uc010yph.1_5'Flank	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN	Homo sapiens vaccinia related kinase 2 (VRK2), transcript variant 4, mRNA.	59	Protein kinase.					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						CAAGACATGTAGTAAAAGTGG	0.308													12	36					0	0	0.457914	0	0	G	58311264	A	G	58311264	2	3	56	1	0	0	0	0	0	0	0	1	17217	407	15	4		4	VRK2	2	58311264	Silent	SNP	A	TCGA-DU-5849-01A-11D-1705-08		58311264	184888109	3	2337											
GLI2	2736	broad.mit.edu	37	chr2	121684944	121684944	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccccctctgcagtgccgcaGcatctcttgccaccattcca	6	10	6	19	1	2	0	0	0	2	0	5	0	4	0	6	0	4	3	6	0	0	2			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr2:121684944G>A	uc010flp.3	+	1	186	c.156G>A	c.(154-156)caG>caA	p.Q52Q	GLI2_uc010yyu.1_Silent_p.Q52Q|GLI2_uc002tmp.1_Silent_p.Q52Q|GLI2_uc010fln.1_Non-coding_Transcript|GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Intron|GLI2_uc002tmu.4_Intron|GLI2_uc002tmv.1_Silent_p.Q52Q|GLI2_uc010flo.1_Intron|GLI2_uc002tmw.1_Silent_p.Q52Q	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	52					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P51P(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CAGTGCCGCAGCATCTCTTGC	0.502													10	159					0	0	0.361761	0	0	A	121684944	G	A	121684944	2	1	56	1	0	0	0	0	0	0	0	1	6438	962	34	3		3	GLI2	2	121684944	Silent	SNP	G	TCGA-DU-5849-01A-11D-1705-08	63373680	121684944	121514429	4	2338											
PBRM1	55193	broad.mit.edu	37	chr3	52643532	52643532	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcctgatgactcatgacTgacacaaaaagattgtggat	14	11	8	8	0	2	5	2	4	0	1	3	6	3	6	1	1	0	0	1	1	2	1			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr3:52643532T>A	uc003des.2	-	15	2376	c.2364A>T	c.(2362-2364)tcA>tcT	p.S788S	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Silent_p.S788S|PBRM1_uc003der.2_Silent_p.S756S|PBRM1_uc003det.2_Silent_p.S803S|PBRM1_uc003deu.2_Silent_p.S803S|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Silent_p.S788S|PBRM1_uc010hmk.1_Silent_p.S788S|PBRM1_uc003dey.2_Silent_p.S788S|PBRM1_uc003dez.1_Silent_p.S788S|PBRM1_uc003dfb.1_Silent_p.S701S|PBRM1_uc003dfa.1_Silent_p.S134S|PBRM1_uc003dfc.3_Silent_p.S155S	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	788					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding	p.S788*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GACTCATGACTGACACAAAAA	0.453			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								5	70					0	0	0.217242	0	0	A	52643532	T	A	52643532	2	1	56	1	0	0	0	0	0	0	0	1	11491	1567	55	5		5	PBRM1	3	52643532	Silent	SNP	T	TCGA-DU-5849-01A-11D-1705-08		52643532	145378898	5	2339											
ZBTB20	26137	broad.mit.edu	37	chr3	114070194	114070194	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcacgcgtagagtgccgagTagatcctgtccacgctgtgc	8	8	13	12	4	0	2	0	0	0	2	2	3	2	2	3	0	3	4	3	0	2	2			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr3:114070194T>C	uc003ebi.3	-	3	911	c.731A>G	c.(730-732)tAc>tGc	p.Y244C	ZBTB20_uc003ebj.3_Missense_Mutation_p.Y171C|ZBTB20_uc010hqp.3_Missense_Mutation_p.Y171C|ZBTB20_uc003ebk.3_Missense_Mutation_p.Y171C|ZBTB20_uc003ebl.3_Missense_Mutation_p.Y171C|ZBTB20_uc003ebm.3_Missense_Mutation_p.Y171C|ZBTB20_uc003ebn.3_Missense_Mutation_p.Y171C|ZBTB20-AS1_uc003ebo.2_5'Flank	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P244L(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GAGTGCCGAGTAGATCCTGTC	0.667													11	62					0	0	0.361761	0	0	C	114070194	T	C	114070194	3	2	56	1	0	0	0	0	1	0	0	0	17526	1638	57	3	1502	3	ZBTB20	3	114070194	Missense_Mutation	SNP	T	TCGA-DU-5849-01A-11D-1705-08	61426662	114070194	83952236	6	2340											
KY	339855	broad.mit.edu	37	chr3	134369693	134369693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcgctgcagcagcgagctcGggttcgcctgctggtctgag	4	8	16	13	5	1	1	0	1	1	0	3	2	1	1	1	2	5	6	1	2	0	1			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr3:134369693G>A	uc010hty.3	-	0	172	c.110C>T	c.(109-111)cCg>cTg	p.P37L	KY_uc011blw.2_Missense_Mutation_p.P37L|KY_uc011blx.2_Missense_Mutation_p.P37L|KY_uc003eqs.1_Intron	NM_178554	NP_848649	Q8NBH2	KY_HUMAN	Homo sapiens kyphoscoliosis peptidase (KY), mRNA.	37						Z disc|cytoskeleton	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						CAGCGAGCTCGGGTTCGCCTG	0.682													5	13					0	0	0.184627	0	0	A	134369693	G	A	134369693	3	1	56	1	0	0	0	0	1	0	0	0	8586	1116	39	2	1919	2	KY	3	134369693	Missense_Mutation	SNP	G	TCGA-DU-5849-01A-11D-1705-08	20299499	134369693	63652737	7	2341											
SERPINI1	5274	broad.mit.edu	37	chr3	167508323	167508323	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaatgcagcagtaaatcaTgtggacttcagtcaaaatgt	14	13	8	6	0	3	0	3	0	0	0	3	1	3	1	0	1	2	3	0	1	5	4			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr3:167508323T>C	uc003ffa.4	+	2	612	c.414T>C	c.(412-414)caT>caC	p.H138H	SERPINI1_uc003ffb.4_Silent_p.H138H	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	138					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						CAGTAAATCATGTGGACTTCA	0.363													21	34					0	0	0.592651	0	0	C	167508323	T	C	167508323	2	2	56	1	0	0	0	0	0	0	0	1	14118	1461	51	3		3	SERPINI1	3	167508323	Silent	SNP	T	TCGA-DU-5849-01A-11D-1705-08	33138630	167508323	30514107	8	2342											
FAM193A	8603	broad.mit.edu	37	chr4	2702268	2702268	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagacagagtcaacaattcaAttggtaaatacagaatagcg	18	8	9	6	1	2	3	2	0	0	3	2	4	2	3	0	1	3	1	0	1	8	5			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr4:2702268A>G	uc010ick.3	+	17	4097	c.4096A>G	c.(4096-4098)Att>Gtt	p.I1366V	FAM193A_uc003gfd.3_Missense_Mutation_p.I1166V|FAM193A_uc011bvm.2_Missense_Mutation_p.I1188V|FAM193A_uc011bvn.2_Missense_Mutation_p.I1166V|FAM193A_uc010icl.3_Missense_Mutation_p.I1166V|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Missense_Mutation_p.I1020V	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	1166										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CAACAATTCAATTGGTAAATA	0.458													3	30					0	0	0.115264	0	0	G	2702268	A	G	2702268	3	3	56	1	0	0	0	0	1	0	0	0	5524	101	4	3	3554	3	FAM193A	4	2702268	Missense_Mutation	SNP	A	TCGA-DU-5849-01A-11D-1705-08		2702268	188452008	9	2343											
LPHN3	23284	broad.mit.edu	37	chr4	62453140	62453140	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgttatctgccagatgcctAtaagattatgtctcaaaggt	12	14	8	7	0	2	2	1	0	2	2	3	2	2	2	2	1	2	1	2	1	5	4			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr4:62453140A>G	uc010ihh.3	+	1	424	c.251A>G	c.(250-252)tAt>tGt	p.Y84C	LPHN3_uc003hcq.4_Missense_Mutation_p.Y84C|LPHN3_uc010ihg.1_Missense_Mutation_p.Y152C	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	84	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCAGATGCCTATAAGATTATG	0.363													6	18					0	0	0.248553	0	0	G	62453140	A	G	62453140	3	3	56	1	0	0	0	0	1	0	0	0	8917	449	16	3	257	3	LPHN3	4	62453140	Missense_Mutation	SNP	A	TCGA-DU-5849-01A-11D-1705-08	59750872	62453140	128701136	10	2344											
ART3	419	broad.mit.edu	37	chr4	77018807	77018807	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtttcaggactaaaaacCgaaaactgtattgagaacct	15	11	8	7	1	1	1	1	1	0	1	1	4	1	2	2	1	3	2	2	1	7	4			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr4:77018807C>T	uc003hjo.3	+	3	926	c.792C>T	c.(790-792)acC>acT	p.T264T	ART3_uc003hjk.3_Silent_p.T264T|ART3_uc010ija.2_Silent_p.T264T|ART3_uc003hjn.3_Silent_p.T264T|ART3_uc003hjp.3_Non-coding_Transcript|ART3_uc010ijb.3_Intron|ART3_uc003hjq.3_Intron|ART3_uc003hjr.3_Silent_p.T234T|ART3_uc010ijc.3_Intron|ART3_uc010ijd.3_Silent_p.T234T	NM_001130016	NP_001123488	Q13508	NAR3_HUMAN	Homo sapiens ADP-ribosyltransferase 3 (ART3), transcript variant 1, mRNA.	264					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GACTAAAAACCGAAAACTGTA	0.328													21	53					0	0	0.592651	0	0	T	77018807	C	T	77018807	2	4	56	1	0	0	0	0	0	0	0	1	998	639	23	2		2	ART3	4	77018807	Silent	SNP	C	TCGA-DU-5849-01A-11D-1705-08	14565667	77018807	114135469	11	2345											
MTNR1A	4543	broad.mit.edu	37	chr4	187455100	187455100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcctaggcaccatgctggCggggtcagaggccacggcca	8	5	15	13	2	1	1	1	0	0	1	2	2	2	1	4	6	1	2	4	6	1	1	rs148793802		TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr4:187455100C>T	uc003izd.1	-	1	814	c.796G>A	c.(796-798)Gcc>Acc	p.A266T		NM_005958	NP_005949	P48039	MTR1A_HUMAN	Homo sapiens melatonin receptor 1A (MTNR1A), mRNA.	266					G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	ACCATGCTGGCGGGGTCAGAG	0.507													6	83					0	0	0.27861	0	0	T	187455100	C	T	187455100	3	4	56	1	0	0	0	0	1	0	0	0	9951	768	27	1	260	1	MTNR1A	4	187455100	Missense_Mutation	SNP	C	TCGA-DU-5849-01A-11D-1705-08	110436293	187455100	3699176	12	2346											
DNAH5	1767	broad.mit.edu	37	chr5	13736040	13736040	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgctgccccgcgtagcCactggaagacaaagagcaag	13	4	13	11	2	0	2	0	0	0	2	0	4	0	4	3	2	4	3	3	2	4	1			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr5:13736040C>G	uc003jfd.2	-	67	11498	c.11456_splice	c.e67-1	p.V3819_splice	DNAH5_uc003jfc.2_Splice_Site	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3819					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCGCGTAGCCACTGGAAGAC	0.443									Kartagener syndrome				10	47					0	0	0.335167	0	0	G	13736040	C	G	13736040	5	3	56	1	0	0	0	0	0	0	1	0	4604	608	21	5	2469	5	DNAH5	5	13736040	Splice_Site	SNP	C	TCGA-DU-5849-01A-11D-1705-08		13736040	167179220	13	2347											
PCDHB2	56133	broad.mit.edu	37	chr5	140474488	140474488	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaggcactattcagtggcCgaggaaacggagagtggctc	10	7	14	10	2	1	1	1	0	0	1	2	4	1	2	2	5	1	2	2	5	3	3	rs142513918	byFrequency	TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr5:140474488C>T	uc003lil.3	+	0	252	c.114C>T	c.(112-114)gcC>gcT	p.A38A	PCDHB2_uc003lim.1_Intron	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	38	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.A38S(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTCAGTGGCCGAGGAAACGG	0.532													3	51					0	0	0.115264	0	0	T	140474488	C	T	140474488	2	4	56	1	0	0	0	0	0	0	0	1	11542	639	23	2		2	PCDHB2	5	140474488	Silent	SNP	C	TCGA-DU-5849-01A-11D-1705-08	126738448	140474488	40440772	14	2348											
RELL2	285613	broad.mit.edu	37	chr5	141019513	141019513	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgacacacattgagaagcGctatggactgcacgaacacc	13	6	11	11	2	0	2	0	2	0	1	0	5	0	3	1	2	3	2	1	2	3	2	rs143590565	byFrequency	TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr5:141019513G>C	uc003lli.3	+	5	1378	c.530G>C	c.(529-531)cGc>cCc	p.R177P	RELL2_uc003llh.3_Missense_Mutation_p.R177P|FCHSD1_uc010jgg.3_3'UTR|FCHSD1_uc003llj.3_Non-coding_Transcript|FCHSD1_uc003llk.3_3'UTR	NM_001130029	NP_776189	Q8NC24	RELL2_HUMAN	Homo sapiens RELT-like 2 (RELL2), transcript variant 2, mRNA.	177						integral to membrane|plasma membrane				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGAGAAGCGCTATGGACTG	0.647													3	55					0	0	0.115264	0	0	C	141019513	G	C	141019513	3	2	56	1	0	0	0	0	1	0	0	0	13219	1087	38	5	548	5	RELL2	5	141019513	Missense_Mutation	SNP	G	TCGA-DU-5849-01A-11D-1705-08	545025	141019513	39895747	15	2349											
TNXB	7148	broad.mit.edu	37	chr6	32030161	32030161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctgagggagtcaggggtcGcatctgtcacggtcagctcc	6	8	16	11	2	4	1	3	1	1	0	6	2	5	2	1	5	1	3	1	5	0	0			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr6:32030161G>A	uc003nzl.2	-	19	7143	c.6941C>T	c.(6940-6942)gCg>gTg	p.A2314V		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2376	Fibronectin type-III 15.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTCAGGGGTCGCATCTGTCAC	0.612													3	26					0	0	0.115264	0	0	A	32030161	G	A	32030161	3	1	56	1	0	0	0	0	1	0	0	0	16343	1087	38	1	7872	1	TNXB	6	32030161	Missense_Mutation	SNP	G	TCGA-DU-5849-01A-11D-1705-08		32030161	139084906	16	2350											
IMPG1	3617	broad.mit.edu	37	chr6	76657112	76657112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaaaatcctccaagacccCgtgcacagccttggtgaggt	11	7	10	13	2	0	2	0	1	0	1	2	3	2	2	5	2	2	1	5	2	3	1			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr6:76657112C>T	uc003pik.1	-	13	2093	c.1963G>A	c.(1963-1965)Ggg>Agg	p.G655R		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	655	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCCAAGACCCCGTGCACAGCC	0.448													13	47					0	0	0.411799	0	0	T	76657112	C	T	76657112	3	4	56	1	0	0	0	0	1	0	0	0	7728	652	23	2	446	2	IMPG1	6	76657112	Missense_Mutation	SNP	C	TCGA-DU-5849-01A-11D-1705-08	44626951	76657112	94457955	17	2351											
PRKDC	5591	broad.mit.edu	37	chr8	48744441	48744441	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcttctcctggtccctCataaaccgtctgcgcagtcg	6	11	9	15	3	3	1	1	1	2	0	6	1	4	1	3	1	3	2	3	1	2	2			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr8:48744441C>A	uc003xqi.3	-	60	8253	c.8196G>T	c.(8194-8196)atG>atT	p.M2732I	PRKDC_uc003xqj.3_Missense_Mutation_p.M2732I	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2733	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CCTGGTCCCTCATAAACCGTC	0.542								Non-homologous end-joining					26	154					6.07407e-21	6.78867e-21	0.717897	1	0	A	48744441	C	A	48744441	3	1	56	1	0	0	0	0	1	0	0	0	12521	826	29	5	4295	5	PRKDC	8	48744441	Missense_Mutation	SNP	C	TCGA-DU-5849-01A-11D-1705-08		48744441	97619581	18	2352											
EPPK1	83481	broad.mit.edu	37	chr8	144945366	144945366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgtagccagtgacagcgcGctcagccgacagcagcttcg	9	6	13	13	4	1	1	1	1	0	0	2	2	1	1	2	0	5	4	2	0	1	2			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr8:144945366G>A	uc003zaa.1	-	0	2069	c.2056C>T	c.(2056-2058)Cgc>Tgc	p.R686C		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	686						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTGACAGCGCGCTCAGCCGAC	0.617													8	27					0	0	0.307466	0	0	A	144945366	G	A	144945366	3	1	56	1	0	0	0	0	1	0	0	0	5190	1087	38	1	5210	1	EPPK1	8	144945366	Missense_Mutation	SNP	G	TCGA-DU-5849-01A-11D-1705-08	96200925	144945366	1418656	19	2353											
SMC2	10592	broad.mit.edu	37	chr9	106860785	106860785	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtcaatgccaacaacaccaGagtacaggatctcttctgtt	13	10	7	11	0	3	1	1	0	2	1	4	2	3	2	2	1	4	2	2	1	4	3			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr9:106860785G>C	uc004bbv.3	+	3	665	c.377G>C	c.(376-378)aGa>aCa	p.R126T	SMC2_uc004bbu.1_Missense_Mutation_p.R126T|SMC2_uc004bbw.3_Missense_Mutation_p.R126T|SMC2_uc011lvl.2_Missense_Mutation_p.R126T|SMC2_uc010mtg.1_5'UTR|SMC2_uc010mth.1_Missense_Mutation_p.R76T|SMC2_uc004bbx.3_Missense_Mutation_p.R126T	NM_001042551	NP_006435	O95347	SMC2_HUMAN	Homo sapiens structural maintenance of chromosomes 2 (SMC2), transcript variant 2, mRNA.	126					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AACAACACCAGAGTACAGGAT	0.338													6	113					0	0	0.248553	0	0	C	106860785	G	C	106860785	3	2	56	1	0	0	0	0	1	0	0	0	14783	942	33	5	387	5	SMC2	9	106860785	Missense_Mutation	SNP	G	TCGA-DU-5849-01A-11D-1705-08		106860785	34352646	20	2354											
CUBN	8029	broad.mit.edu	37	chr10	16877063	16877063	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctcgatgccaagtgaatGaaaaaagagggaaatggtgt	15	9	13	4	1	1	3	0	2	1	1	2	5	1	4	1	2	1	1	1	2	6	1			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr10:16877063G>T	uc001ioo.3	-	63	10364	c.10312C>A	c.(10312-10314)Cat>Aat	p.H3438N		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	3438	CUB 26.				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)	CCAAGTGAATGAAAAAAGAGG	0.428													16	67					6.31663e-08	6.79335e-08	0.479597	1	0	T	16877063	G	T	16877063	3	4	56	1	0	0	0	0	1	0	0	0	4051	1290	45	5	575	5	CUBN	10	16877063	Missense_Mutation	SNP	G	TCGA-DU-5849-01A-11D-1705-08		16877063	118657684	21	2355											
PCDH15	65217	broad.mit.edu	37	chr10	55569195	55569195	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattctggctctcttccatgTtgtgtatgtaggctcagctg	5	17	10	9	0	3	0	1	0	2	0	5	0	4	0	1	2	1	6	1	2	3	6			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr10:55569195T>C	uc021pqw.1	-	35	5019	c.4624A>G	c.(4624-4626)Aca>Gca	p.T1542A	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_3'UTR|PCDH15_uc010qht.2_Missense_Mutation_p.T1537A|PCDH15_uc021pqx.1_3'UTR	NM_001142769	NP_001136241	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant I, mRNA.	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTCTTCCATGTTGTGTATGTA	0.403										HNSCC(58;0.16)			8	137					0	0	0.335167	0	0	C	55569195	T	C	55569195	3	2	56	1	0	0	0	0	1	0	0	0	11511	1725	60	3	1301	3	PCDH15	10	55569195	Missense_Mutation	SNP	T	TCGA-DU-5849-01A-11D-1705-08	38692132	55569195	79965552	22	2356											
LETMD1	25875	broad.mit.edu	37	chr12	51450230	51450230	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgtgattcaccaactggAcaaggctttggcaaagctgg	12	9	11	9	0	1	1	1	1	0	0	1	2	1	2	1	4	3	3	1	4	4	2			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr12:51450230A>G	uc009zlw.3	+	6	957	c.899A>G	c.(898-900)gAc>gGc	p.D300G	LETMD1_uc010smz.2_Missense_Mutation_p.D237G|LETMD1_uc010sna.2_Silent_p.G124G|LETMD1_uc001rxm.3_Missense_Mutation_p.D287G|LETMD1_uc001rxn.3_Missense_Mutation_p.D130G|LETMD1_uc001rxo.3_Non-coding_Transcript|LETMD1_uc001rxr.3_Non-coding_Transcript|LETMD1_uc001rxl.3_Missense_Mutation_p.D231G|LETMD1_uc001rxt.3_Missense_Mutation_p.D27G	NM_001243689	NP_001230618	Q6P1Q0	LTMD1_HUMAN	Homo sapiens LETM1 domain containing 1 (LETMD1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	287	LETM1.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						CACCAACTGGACAAGGCTTTG	0.498													4	117					0	0	0.184627	0	0	G	51450230	A	G	51450230	3	3	56	1	0	0	0	0	1	0	0	0	8736	275	10	3	886	3	LETMD1	12	51450230	Missense_Mutation	SNP	A	TCGA-DU-5849-01A-11D-1705-08		51450230	82401665	23	2357											
LEMD3	23592	broad.mit.edu	37	chr12	65639990	65639990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actagatagataccaccatcGctttccccaggctctcactt	10	11	5	15	1	1	2	1	0	1	2	4	2	2	2	4	1	1	2	4	1	3	5			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr12:65639990G>A	uc001ssl.2	+	12	2647	c.2621G>A	c.(2620-2622)cGc>cAc	p.R874H	LEMD3_uc009zqo.2_Missense_Mutation_p.R873H	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.	874	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of BMP signaling pathway|negative regulation of activin receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TACCACCATCGCTTTCCCCAG	0.358													4	88					0	0	0.150653	0	0	A	65639990	G	A	65639990	3	1	56	1	0	0	0	0	1	0	0	0	8721	1087	38	1	2671	1	LEMD3	12	65639990	Missense_Mutation	SNP	G	TCGA-DU-5849-01A-11D-1705-08	14189760	65639990	68211905	24	2358											
HAL	3034	broad.mit.edu	37	chr12	96389484	96389484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctagggccacctcgagccGgtcctcgttgtccagcaggc	5	8	12	16	3	1	0	0	0	1	0	5	1	3	0	5	3	2	2	5	3	1	2			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr12:96389484G>A	uc001tem.1	-	1	502	c.205C>T	c.(205-207)Cgg>Tgg	p.R69W	HAL_uc010sux.1_Missense_Mutation_p.R69W|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_5'UTR	NM_002108	NP_002099	P42357	HUTH_HUMAN	Homo sapiens histidine ammonia-lyase (HAL), mRNA.	69					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity	p.R69Q(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	ACCTCGAGCCGGTCCTCGTTG	0.612													6	25					0	0	0.217242	0	0	A	96389484	G	A	96389484	3	1	56	1	0	0	0	0	1	0	0	0	6947	1115	39	2	1848	2	HAL	12	96389484	Missense_Mutation	SNP	G	TCGA-DU-5849-01A-11D-1705-08	30749494	96389484	37462411	25	2359											
TPM1	7168	broad.mit.edu	37	chr15	63354774	63354774	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactcaaataaatcattacaGgctgagactcgggctgagtt	14	10	9	8	1	2	2	2	2	0	1	3	3	2	2	0	2	2	3	0	2	5	3			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr15:63354774G>A	uc002alm.3	+	9	1020	c.829_splice	c.e9-1	p.A277_splice	TPM1_uc002alg.3_Splice_Site_p.A235_splice|TPM1_uc002alh.3_Splice_Site_p.A235_splice|TPM1_uc002ali.3_Splice_Site_p.A235_splice|TPM1_uc002alj.3_Splice_Site_p.A235_splice|TPM1_uc002alk.3_Splice_Site_p.A235_splice|TPM1_uc002all.3_Splice_Site_p.A235_splice|TPM1_uc010uie.2_Splice_Site_p.A235_splice|TPM1_uc002alp.3_Splice_Site_p.A235_splice|TPM1_uc010uif.2_Splice_Site_p.A199_splice|TPM1_uc002alr.3_Splice_Site_p.A199_splice|TPM1_uc002als.3_Splice_Site_p.A199_splice|TPM1_uc010uig.2_Splice_Site_p.A199_splice|TPM1_uc002alt.3_Splice_Site_p.A199_splice	NM_001018008	NP_001018008	P09493	TPM1_HUMAN	Homo sapiens tropomyosin 1 (alpha) (TPM1), transcript variant 6, mRNA.	235					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						AATCATTACAGGCTGAGACTC	0.358													14	56					0	0	0.500413	0	0	A	63354774	G	A	63354774	5	1	56	1	0	0	0	0	0	0	1	0	16402	1014	35	3	1078	3	TPM1	15	63354774	Splice_Site	SNP	G	TCGA-DU-5849-01A-11D-1705-08		63354774	39176618	26	2360											
IDH2	3418	broad.mit.edu	37	chr15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcgccatgggcgtgcCtgccaatggtgatgggcttg	4	10	16	11	2	0	1	0	1	0	0	1	1	0	1	4	4	2	1	4	4	1	1	rs121913503		TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr15:90631838C>T	uc002box.3	-	3	601	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_uc010uqb.2_Missense_Mutation_p.R120K|IDH2_uc010uqc.2_Missense_Mutation_p.R42K	NM_002168	NP_002159	P48735	IDHP_HUMAN	Homo sapiens isocitrate dehydrogenase 2 (NADP+), mitochondrial (IDH2), nuclear gene encoding mitochondrial protein, mRNA.	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding	p.R172K(358)|p.R172M(44)|p.R172S(18)|p.R172W(16)|p.R172?(13)|p.R172G(5)|p.G171D(4)|p.R172N(2)|p.R172L(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								22	36					0	0	0.592651	0	0	T	90631838	C	T	90631838	3	4	56	1	0	0	0	0	1	0	0	0	7495	681	24	3	875	3	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-DU-5849-01A-11D-1705-08	27277064	90631838	11899554	27	2361											
CACNG3	10368	broad.mit.edu	37	chr16	24372780	24372780	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggttggtccttttatttcGgagccttctctttcatcatc	5	19	7	10	1	3	0	2	0	1	0	7	1	4	1	2	3	1	1	2	3	1	6			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr16:24372780G>A	uc002dmf.3	+	3	1746	c.544G>A	c.(544-546)Gga>Aga	p.G182R		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	182					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CTTTTATTTCGGAGCCTTCTC	0.453													26	119					0	0	0.693898	0	0	A	24372780	G	A	24372780	3	1	56	1	0	0	0	0	1	0	0	0	2558	1117	39	2	558	2	CACNG3	16	24372780	Missense_Mutation	SNP	G	TCGA-DU-5849-01A-11D-1705-08		24372780	65981973	28	2362											
CNOT1	23019	broad.mit.edu	37	chr16	58565875	58565875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccacaccttctgctgtggcGtatgtgccagcattcttgca	6	12	10	13	1	2	0	0	0	2	0	2	0	2	0	3	1	4	4	3	1	1	4			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr16:58565875G>A	uc002env.3	-	41	6457	c.6164C>T	c.(6163-6165)aCg>aTg	p.T2055M	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.T2050M|CNOT1_uc002ent.3_5'UTR|CNOT1_uc010vik.2_Missense_Mutation_p.T1012M	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	2055					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CTGCTGTGGCGTATGTGCCAG	0.423													16	95					0	0	0.520397	0	0	A	58565875	G	A	58565875	3	1	56	1	0	0	0	0	1	0	0	0	3617	1145	40	1	998	1	CNOT1	16	58565875	Missense_Mutation	SNP	G	TCGA-DU-5849-01A-11D-1705-08	34193095	58565875	31788878	29	2363											
PER1	5187	broad.mit.edu	37	chr17	8054005	8054005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtcccctcccccatcagccCcttctagggggccactcatg	5	8	9	19	0	3	0	2	0	1	0	5	0	5	0	7	3	1	0	7	3	1	2			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr17:8054005C>T	uc002gkd.3	-	1	258	c.20G>A	c.(19-21)gGg>gAg	p.G7E	PER1_uc010vuq.2_Non-coding_Transcript|PER1_uc010vur.1_Intron|PER1_uc010vus.1_Missense_Mutation_p.G7E	NM_002616	NP_002607	O15534	PER1_HUMAN	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.	7					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCCATCAGCCCCTTCTAGGGG	0.677			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					5	23					0	0	0.184627	0	0	T	8054005	C	T	8054005	3	4	56	1	0	0	0	0	1	0	0	0	11729	623	22	3	3940	3	PER1	17	8054005	Missense_Mutation	SNP	C	TCGA-DU-5849-01A-11D-1705-08		8054005	73141205	30	2364											
TRPV2	51393	broad.mit.edu	37	chr17	16336965	16336965	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcaggtgtgatgctgacCgttggcactaagccagatgg	8	8	16	9	2	0	3	0	2	0	1	0	3	0	3	2	4	2	4	2	4	1	2			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr17:16336965C>T	uc002gpy.3	+	12	2466	c.2067C>T	c.(2065-2067)acC>acT	p.T689T	TRPV2_uc002gpz.3_Silent_p.T259T	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 2 (TRPV2), mRNA.	689					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGATGCTGACCGTTGGCACTA	0.587													17	71					0	0	0.520397	0	0	T	16336965	C	T	16336965	2	4	56	1	0	0	0	0	0	0	0	1	16593	639	23	2		2	TRPV2	17	16336965	Silent	SNP	C	TCGA-DU-5849-01A-11D-1705-08	8282960	16336965	64858245	31	2365											
HDHD2	84064	broad.mit.edu	37	chr18	44656634	44656634	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccggaatgcttgattcagaaTttgataatgaaaatgttctg	13	14	9	5	1	2	4	1	3	1	1	2	5	2	5	1	1	1	2	1	1	5	5			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr18:44656634T>G	uc002lcs.3	-	3	509	c.376A>C	c.(376-378)Att>Ctt	p.I126L	HDHD2_uc002lct.3_Missense_Mutation_p.I36L	NM_032124	NP_115500	Q9H0R4	HDHD2_HUMAN	Homo sapiens haloacid dehalogenase-like hydrolase domain containing 2 (HDHD2), mRNA.	126							hydrolase activity			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						TGATTCAGAATTTGATAATGA	0.353													7	77					0	0	0.27861	0	0	G	44656634	T	G	44656634	3	3	56	1	0	0	0	0	1	0	0	0	7023	1493	52	5	419	5	HDHD2	18	44656634	Missense_Mutation	SNP	T	TCGA-DU-5849-01A-11D-1705-08		44656634	33420614	32	2366											
TICAM1	148022	broad.mit.edu	37	chr19	4817206	4817206	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtggaggatcacaaagttaTagaatttctgttccgatgat	12	13	10	6	2	2	2	1	1	1	1	3	5	3	4	1	2	0	2	1	2	4	4			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr19:4817206T>C	uc002mbi.3	-	1	1435	c.1184A>G	c.(1183-1185)tAt>tGt	p.Y395C	TICAM1_uc021unj.1_Missense_Mutation_p.Y395C	NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	Homo sapiens toll-like receptor adaptor molecule 1 (TICAM1), mRNA.	395	TIR.				I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CACAAAGTTATAGAATTTCTG	0.592													23	25					0	0	0.608945	0	0	C	4817206	T	C	4817206	3	2	56	1	0	0	0	0	1	0	0	0	15889	1406	49	3	958	3	TICAM1	19	4817206	Missense_Mutation	SNP	T	TCGA-DU-5849-01A-11D-1705-08		4817206	54311777	33	2367											
OR10H5	284433	broad.mit.edu	37	chr19	15905003	15905003	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgctcatcatggccactGtctggagcgagcgcagcctc	7	8	11	15	2	3	0	2	0	1	0	4	2	3	1	3	2	4	2	3	2	0	0			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr19:15905003G>C	uc010xos.2	+	0	145	c.145G>C	c.(145-147)Gtc>Ctc	p.V49L		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CATGGCCACTGTCTGGAGCGA	0.597													6	75					0	0	0.248553	0	0	C	15905003	G	C	15905003	3	2	56	1	0	0	0	0	1	0	0	0	10909	1377	48	5	147	5	OR10H5	19	15905003	Missense_Mutation	SNP	G	TCGA-DU-5849-01A-11D-1705-08	11087797	15905003	43223980	34	2368											
DDA1	79016	broad.mit.edu	37	chr19	17425150	17425150	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaaccctcctgcagaacCgacggccctcagtctacctg	8	8	7	18	2	3	1	2	0	2	1	5	2	4	1	5	1	4	1	5	1	3	1			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr19:17425150C>T	uc002ngd.3	+	2	215	c.88C>T	c.(88-90)Cga>Tga	p.R30*		NM_024050	NP_076955	Q9BW61	DDA1_HUMAN	Homo sapiens DET1 and DDB1 associated 1 (DDA1), mRNA.	30										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						CCTGCAGAACCGACGGCCCTC	0.607													5	36					0	0	0.217242	0	0	T	17425150	C	T	17425150	4	4	56	1	0	0	0	0	0	1	0	0	4320	644	23	2	98	2	DDA1	19	17425150	Nonsense_Mutation	SNP	C	TCGA-DU-5849-01A-11D-1705-08	1520147	17425150	41703833	35	2369											
IL12RB1	3594	broad.mit.edu	37	chr19	18191676	18191676	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagggtcacctcaggagaCttctctgtctggttcctggc	5	12	12	12	0	4	1	2	0	2	1	6	2	5	1	2	4	1	2	2	4	0	2			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr19:18191676C>T	uc002nhx.1	-	4	546	c.495G>A	c.(493-495)aaG>aaA	p.K165K	IL12RB1_uc002nhw.1_Silent_p.K125K|IL12RB1_uc010xqb.1_Silent_p.K125K|IL12RB1_uc002nhy.3_Silent_p.K125K	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	125	Fibronectin type-III 2.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CCTCAGGAGACTTCTCTGTCT	0.587													18	45					0	0	0.539581	0	0	T	18191676	C	T	18191676	2	4	56	1	0	0	0	0	0	0	0	1	7626	564	20	3		3	IL12RB1	19	18191676	Silent	SNP	C	TCGA-DU-5849-01A-11D-1705-08	766526	18191676	40937307	36	2370											
RALGAPA2	57186	broad.mit.edu	37	chr20	20616214	20616214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgtaaatgttctcattgtCtcgagtggtagtaatgtaca	11	15	9	6	1	2	0	1	0	2	0	4	1	2	0	0	1	1	5	0	1	5	6			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr20:20616214C>T	uc002wrz.3	-	8	996	c.853G>A	c.(853-855)Gac>Aac	p.D285N	RALGAPA2_uc010zsg.2_5'UTR	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	285					activation of Ral GTPase activity	cytosol|nucleus	Ral GTPase activator activity|protein heterodimerization activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TTCTCATTGTCTCGAGTGGTA	0.343													21	137					0	0	0.608945	0	0	T	20616214	C	T	20616214	3	4	56	1	0	0	0	0	1	0	0	0	13014	913	32	3	4892	3	RALGAPA2	20	20616214	Missense_Mutation	SNP	C	TCGA-DU-5849-01A-11D-1705-08		20616214	42409306	37	2371											
GNAS	2778	broad.mit.edu	37	chr20	57415453	57415453	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaccttgagctgtccctcCccgagtgcctagagtacgag	8	8	11	14	2	0	3	0	1	0	2	2	5	2	3	5	0	3	2	5	0	2	3			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr20:57415453C>A	uc021wfl.1	+	0	659	c.292C>A	c.(292-294)Ccc>Acc	p.P98T	GNAS-AS1_uc002xzs.2_Intron|GNAS_uc002xzt.3_5'UTR|GNAS_uc021wfm.1_Missense_Mutation_p.P98T|GNAS_uc010gjq.3_5'Flank	NM_016592	NP_057676	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 4, mRNA.	100					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	p.N97S(1)		adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCTGTCCCTCCCCGAGTGCCT	0.617			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			22	52					1.10923e-09	1.21589e-09	0.639603	1	0	A	57415453	C	A	57415453	3	1	56	1	0	0	0	0	1	0	0	0	6510	623	22	5	294	5	GNAS	20	57415453	Missense_Mutation	SNP	C	TCGA-DU-5849-01A-11D-1705-08	36799239	57415453	5610067	38	2372											
DONSON	29980	broad.mit.edu	37	chr21	34958408	34958408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaggtgaaaaggagtcgcGttttaatactccagtccaca	14	9	10	8	2	0	2	0	1	0	1	3	3	2	3	2	2	1	1	2	2	5	3			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr21:34958408G>A	uc002ysk.3	-	2	802	c.482C>T	c.(481-483)aCg>aTg	p.T161M	DONSON_uc002ysn.1_Missense_Mutation_p.T44M|DONSON_uc002ysi.1_5'UTR|DONSON_uc002ysj.3_5'UTR|DONSON_uc002ysm.3_Missense_Mutation_p.T161M	NM_017613	NP_060083	Q9NYP3	DONS_HUMAN	Homo sapiens downstream neighbor of SON (DONSON), mRNA.	161					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						AAGGAGTCGCGTTTTAATACT	0.433											OREG0003565	type=REGULATORY REGION|Gene=DONSON|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	58					0	0	0.27861	0	0	A	34958408	G	A	34958408	3	1	56	1	0	0	0	0	1	0	0	0	4706	1145	40	1	1250	1	DONSON	21	34958408	Missense_Mutation	SNP	G	TCGA-DU-5849-01A-11D-1705-08		34958408	13171487	39	2373											
KRTAP10-12	386685	broad.mit.edu	37	chr21	46117735	46117735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgtgtgcagacccgccCgccgcgtgcccgtcccctcc	2	6	11	22	5	0	1	0	0	0	1	2	1	2	1	8	0	2	1	8	0	0	0			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr21:46117735C>T	uc002zfw.1	+	0	649	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198699	NP_941972	P60413	KR10C_HUMAN	Homo sapiens keratin associated protein 10-12 (KRTAP10-12), mRNA.	207	19 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(8)	9						CAGACCCGCCCGCCGCGTGCC	0.716													21	60					0	0	0.654019	0	0	T	46117735	C	T	46117735	3	4	56	1	0	0	0	0	1	0	0	0	8508	652	23	2	621	2	KRTAP10-12	21	46117735	Missense_Mutation	SNP	C	TCGA-DU-5849-01A-11D-1705-08	11159327	46117735	2012160	40	2374											
DNAJB7	150353	broad.mit.edu	37	chr22	41257198	41257198	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaacccaagatatacctccCtcatcattgtccacgaaagt	13	10	5	13	1	2	1	2	0	0	1	4	2	4	1	4	0	2	1	4	0	5	4			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr22:41257198C>T	uc003azj.3	-	0	933	c.801G>A	c.(799-801)gaG>gaA	p.E267E	XPNPEP3_uc011aox.2_Intron|XPNPEP3_uc003azh.3_Intron|XPNPEP3_uc003azi.3_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azf.2_Intron|XPNPEP3_uc003azg.2_Intron|XPNPEP3_uc010gyh.1_5'Flank	NM_145174	NP_660157	Q7Z6W7	DNJB7_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 7 (DNAJB7), mRNA.	267					protein folding		heat shock protein binding|unfolded protein binding	p.D266D(1)		breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						ATATACCTCCCTCATCATTGT	0.423													13	85					0	0	0.435327	0	0	T	41257198	C	T	41257198	2	4	56	1	0	0	0	0	0	0	0	1	4625	680	24	3		3	DNAJB7	22	41257198	Silent	SNP	C	TCGA-DU-5849-01A-11D-1705-08		41257198	10047368	41	2375											
GAGE2B	645037	broad.mit.edu	37	chrX	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT																															gttggcgaggaagatcgaccINStatcggcctagaccaagacg																										TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chrX:49208295_49208296insTAT	uc004dnv.4	+	1	140_141	c.24_25insTAT	c.(22-27)insTAT	p.9_10insY	GAGE2B_uc004dnl.4_Intron|GAGE2B_uc022bwc.1_Intron|GAGE2B_uc011mne.2_Intron|GAGE2B_uc004dnn.4_Intron|GAGE2B_uc011mnf.2_Intron|GAGE2B_uc004dnq.4_Intron|GAGE2B_uc004dnr.4_Intron|GAGE2B_uc004dnk.4_Intron|GAGE2B_uc004dno.4_Intron|GAGE2B_uc004dnp.4_Intron|GAGE2B_uc010njc.3_In_Frame_Ins_p.9_10insY|GAGE2B_uc004dnt.4_In_Frame_Ins_p.9_10insY|GAGE2B_uc004dnu.4_In_Frame_Ins_p.9_10insY	NM_001127212	NP_001091881			Homo sapiens G antigen 2A (GAGE2A), mRNA.																		GAAGATCGACCTATCGGCCTAG	0.465													9	12	---	---	---	---						TAT	49208296	-	TAT	49208295	7	5	56	1	0	1	1	0	0	0	0	0	6191	668	24	0		0	GAGE2B	23	49208295	In_Frame_Ins	INS	-	TCGA-DU-5849-01A-11D-1705-08		49208295	106062265	42	2376											
NXF3	56000	broad.mit.edu	37	chrX	102338548	102338548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcttacctcaactgggaCgaagggtacactgcattcat	10	12	8	11	1	3	0	2	0	1	0	3	2	3	1	1	2	4	2	1	2	4	4			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chrX:102338548C>T	uc004eju.3	-	3	495	c.424G>A	c.(424-426)Gtc>Atc	p.V142I	NXF3_uc010noi.1_5'UTR|NXF3_uc011mrw.1_Missense_Mutation_p.V142I|NXF3_uc011mrx.1_Missense_Mutation_p.V53I	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	142	RRM.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TCAACTGGGACGAAGGGTACA	0.458													35	54					0	0	0.812448	0	0	T	102338548	C	T	102338548	3	4	56	1	0	0	0	0	1	0	0	0	10785	536	19	1	1235	1	NXF3	23	102338548	Missense_Mutation	SNP	C	TCGA-DU-5849-01A-11D-1705-08	53130253	102338548	52932012	43	2377											
ADC	113451	broad.mit.edu	37	chr1	33560160	33560160	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcttcccagttttcacattgGcagtggctgtcctgaccctc	5	14	8	14	0	2	1	1	1	1	0	5	1	4	1	3	2	0	3	3	2	0	4			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr1:33560160G>C	uc009vug.3	+	4	671	c.599G>C	c.(598-600)gGc>gCc	p.G200A	ADC_uc001bwr.3_Missense_Mutation_p.G200A|ADC_uc001bws.3_Missense_Mutation_p.G200A|ADC_uc009vue.3_Missense_Mutation_p.G200A|ADC_uc001bwt.1_Missense_Mutation_p.G105A|ADC_uc001bwu.3_Missense_Mutation_p.G105A|ADC_uc001bwv.3_Missense_Mutation_p.G105A|ADC_uc001bwx.1_Missense_Mutation_p.G177A|ADC_uc009vuf.1_Intron|ADC_uc001bwy.1_Missense_Mutation_p.G49A|ADC_uc001bwz.1_Missense_Mutation_p.G200A	NM_052998	NP_443724	Q96A70	ADC_HUMAN	Homo sapiens arginine decarboxylase (ADC), mRNA.	200					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	TTTCACATTGGCAGTGGCTGT	0.587													24	90					0	0	0.00333	0	0	C	33560160	G	C	33560160	3	2	57	1	0	0	0	0	1	0	0	0	287	1203	42	5	617	5	ADC	1	33560160	Missense_Mutation	SNP	G	TCGA-DU-5851-01A-13D-1893-08		33560160	215690461	1	2378											
COL24A1	255631	broad.mit.edu	37	chr1	86590808	86590808	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttcttgagattagtaattGtatcttgtttaatttgtgga	9	20	8	4	0	2	1	0	1	2	1	2	3	2	2	1	1	0	3	1	1	4	10			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr1:86590808G>T	uc001dlj.3	-	2	1286	c.1211C>A	c.(1210-1212)aCa>aAa	p.T404K	COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_5'UTR|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript|COL24A1_uc009wcq.3_Missense_Mutation_p.T404K	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	404					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATTAGTAATTGTATCTTGTTT	0.348													14	61					2.62699e-14	3.29901e-14	0.003163	1	0	T	86590808	G	T	86590808	3	4	57	1	0	0	0	0	1	0	0	0	3683	1377	48	5	4165	5	COL24A1	1	86590808	Missense_Mutation	SNP	G	TCGA-DU-5851-01A-13D-1893-08	53030648	86590808	162659813	2	2379											
FCGR1A	2209	broad.mit.edu	37	chr1	149755784	149755784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggtctctcagggcgaaGtgaccccatacagctggaaa	12	6	13	10	1	2	2	1	1	1	1	3	5	2	3	2	3	2	1	2	3	3	1			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr1:149755784G>A	uc001esp.4	+	2	328	c.278G>A	c.(277-279)aGt>aAt	p.S93N	HIST2H2BF_uc010pbj.2_Intron|FCGR1A_uc009wlh.1_Non-coding_Transcript	NM_000566	NP_000557	P12314	FCGR1_HUMAN	Homo sapiens Fc fragment of IgG, high affinity Ia, receptor (CD64) (FCGR1A), mRNA.	93	Ig-like C2-type 1.				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCAGGGCGAAGTGACCCCATA	0.547													30	105					0	0	0.004289	0	0	A	149755784	G	A	149755784	3	1	57	1	0	0	0	0	1	0	0	0	5779	1029	36	3	288	3	FCGR1A	1	149755784	Missense_Mutation	SNP	G	TCGA-DU-5851-01A-13D-1893-08	63164976	149755784	99494837	3	2380											
LY9	4063	broad.mit.edu	37	chr1	160783602	160783602	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccattcttaccgtctccCgaacaccatgtgacccagac	9	9	6	17	2	2	2	0	1	2	1	4	3	3	2	5	0	2	1	5	0	2	2			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr1:160783602C>T	uc001fwu.3	+	2	681	c.631C>T	c.(631-633)Cga>Tga	p.R211*	LY9_uc010pjs.1_Nonsense_Mutation_p.R211*|LY9_uc001fwv.3_Nonsense_Mutation_p.R211*|LY9_uc001fww.3_Nonsense_Mutation_p.R211*|LY9_uc001fwy.1_Nonsense_Mutation_p.R113*|LY9_uc001fwz.3_5'Flank	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	211	Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TACCGTCTCCCGAACACCATG	0.572													65	266					0	0	0.00361	0	0	T	160783602	C	T	160783602	4	4	57	1	0	0	0	0	0	1	0	0	9101	644	23	2	773	2	LY9	1	160783602	Nonsense_Mutation	SNP	C	TCGA-DU-5851-01A-13D-1893-08	11027818	160783602	88467019	4	2381											
C1orf65	164127	broad.mit.edu	37	chr1	223568185	223568185	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtccctggaacaaagtttCcagcggtcccaggagataca	11	8	10	12	1	0	1	0	0	0	1	3	3	3	2	3	3	3	1	3	3	3	2			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr1:223568185C>A	uc001hoa.2	+	0	1471	c.1368C>A	c.(1366-1368)ttC>ttA	p.F456L		NM_152610	NP_689823	Q8N715	CA065_HUMAN	Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.	456										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		AACAAAGTTTCCAGCGGTCCC	0.607													15	55					4.7546e-09	5.58149e-09	0.004007	1	0	A	223568185	C	A	223568185	3	1	57	1	0	0	0	0	1	0	0	0	2055	854	30	5	1370	5	C1orf65	1	223568185	Missense_Mutation	SNP	C	TCGA-DU-5851-01A-13D-1893-08	62784583	223568185	25682436	5	2382											
GFPT1	2673	broad.mit.edu	37	chr2	69554110	69554110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagggatcacgctgagaatgCcctgcaagcagtccactgag	12	6	12	11	1	1	2	1	2	0	1	2	4	2	3	2	1	3	3	2	1	3	0			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr2:69554110C>T	uc002sfi.2	-	18	2174	c.1991G>A	c.(1990-1992)gGc>gAc	p.G664D	GFPT1_uc002sfh.3_Missense_Mutation_p.G646D	NM_001244710	NP_001231639	Q06210	GFPT1_HUMAN	Homo sapiens glutamine--fructose-6-phosphate transaminase 1 (GFPT1), transcript variant 1, mRNA.	664	SIS 2.				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						GCTGAGAATGCCCTGCAAGCA	0.488													4	131					0	0	0.000602	0	0	T	69554110	C	T	69554110	3	4	57	1	0	0	0	0	1	0	0	0	6345	739	26	3	116	3	GFPT1	2	69554110	Missense_Mutation	SNP	C	TCGA-DU-5851-01A-13D-1893-08		69554110	173645263	6	2383											
FASTKD1	79675	broad.mit.edu	37	chr2	170428527	170428527	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caatgactctaggaaaacagGtgtttttttcatttatatca	13	16	6	6	0	3	1	2	1	1	0	3	2	3	2	0	2	1	1	0	2	6	7			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr2:170428527G>C	uc002uev.4	-	1	401	c.13C>G	c.(13-15)Cct>Gct	p.P5A	FASTKD1_uc002uew.4_Non-coding_Transcript|FASTKD1_uc002uex.4_5'UTR|FASTKD1_uc002uey.2_5'UTR	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	Homo sapiens FAST kinase domains 1 (FASTKD1), mRNA.	5					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						AGGAAAACAGGTGTTTTTTTC	0.373													10	41					0	0	0.006214	0	0	C	170428527	G	C	170428527	3	2	57	1	0	0	0	0	1	0	0	0	5685	1261	44	5	2586	5	FASTKD1	2	170428527	Missense_Mutation	SNP	G	TCGA-DU-5851-01A-13D-1893-08	100874417	170428527	72770846	7	2384											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								25	71					0	0	0.004656	0	0	T	209113112	C	T	209113112	3	4	57	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-5851-01A-13D-1893-08	38684585	209113112	34086261	8	2385											
IGSF10	285313	broad.mit.edu	37	chr3	151163027	151163027	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctttttcagcaatttctGagtatggtttgtgccaaaat	9	17	8	7	0	2	1	1	1	1	0	2	1	2	1	2	1	3	3	2	1	4	5			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr3:151163027G>T	uc011bod.2	-	3	4742	c.4742C>A	c.(4741-4743)tCa>tAa	p.S1581*		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1581					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCAATTTCTGAGTATGGTTT	0.438													22	187					2.37509e-13	2.91489e-13	0.001523	1	0	T	151163027	G	T	151163027	4	4	57	1	0	0	0	0	0	1	0	0	7597	1294	45	5	3189	5	IGSF10	3	151163027	Nonsense_Mutation	SNP	G	TCGA-DU-5851-01A-13D-1893-08		151163027	46859403	9	2386											
NLGN1	22871	broad.mit.edu	37	chr3	173997002	173997002	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatatagtagatagcgatgAtggtatatcagctagtgatt	15	13	10	3	1	1	3	1	2	0	1	1	4	1	3	0	1	2	3	0	1	8	8			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr3:173997002A>T	uc021xhm.1	+	5	1651	c.1331A>T	c.(1330-1332)gAt>gTt	p.D444V	NLGN1_uc003fio.1_Missense_Mutation_p.D404V|NLGN1_uc010hww.1_Missense_Mutation_p.D444V|NLGN1_uc003fip.1_Missense_Mutation_p.D404V	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	Homo sapiens neuroligin 1 (NLGN1), mRNA.	421					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of N-methyl-D-aspartate selective glutamate receptor activity|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GATAGCGATGATGGTATATCA	0.328													4	115					0	0	0.000602	0	0	T	173997002	A	T	173997002	3	4	57	1	0	0	0	0	1	0	0	0	10461	333	12	5	1225	5	NLGN1	3	173997002	Missense_Mutation	SNP	A	TCGA-DU-5851-01A-13D-1893-08	22833975	173997002	24025428	10	2387											
SLC4A4	8671	broad.mit.edu	37	chr4	72121038	72121038	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaagaaggaaaaggagAgaatctctgagaactactct	20	6	10	5	0	2	4	0	1	2	4	3	8	2	6	0	2	2	0	0	2	9	1			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr4:72121038A>C	uc010iic.3	+	2	292	c.175A>C	c.(175-177)Aga>Cga	p.R59R	SLC4A4_uc003hfy.3_Silent_p.R59R|SLC4A4_uc010iib.3_Silent_p.R59R|SLC4A4_uc003hfz.3_Silent_p.R59R|SLC4A4_uc003hga.2_5'UTR	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	59						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GGAAAAGGAGAGAATCTCTGA	0.448													7	130					0	0	0.001984	0	0	C	72121038	A	C	72121038	2	2	57	1	0	0	0	0	0	0	0	1	14656	296	11	5		5	SLC4A4	4	72121038	Silent	SNP	A	TCGA-DU-5851-01A-13D-1893-08		72121038	119033238	11	2388											
CDH12	1010	broad.mit.edu	37	chr5	21752212	21752212	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttctcagagccccgatgtcGaaagcctgggtatcttcctc	7	12	9	13	2	2	1	1	0	2	1	6	3	3	1	4	1	2	1	4	1	2	3			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr5:21752212G>A	uc010iuc.2	-	11	2477	c.2019C>T	c.(2017-2019)ttC>ttT	p.F673F	CDH12_uc011cno.1_Silent_p.F633F|CDH12_uc003jgk.2_Silent_p.F673F|BC038535_uc003jgj.3_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	673					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A672P(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CCCCGATGTCGAAAGCCTGGG	0.463										HNSCC(59;0.17)			14	83					0	0	0.003163	0	0	A	21752212	G	A	21752212	2	1	57	1	0	0	0	0	0	0	0	1	3098	1049	37	2		2	CDH12	5	21752212	Silent	SNP	G	TCGA-DU-5851-01A-13D-1893-08		21752212	159163048	12	2389											
PLCXD3	345557	broad.mit.edu	37	chr5	41381990	41381990	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accacagtgctagctttgggGgtcagcaccacctgagatat	10	9	11	11	0	1	1	1	1	0	1	1	2	1	1	3	2	3	3	3	2	2	3			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr5:41381990G>T	uc003jmm.1	-	1	852	c.750C>A	c.(748-750)acC>acA	p.T250T		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	250					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.T250N(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TAGCTTTGGGGGTCAGCACCA	0.463													38	130					5.44703e-19	7.00332e-19	0.002222	1	0	T	41381990	G	T	41381990	2	4	57	1	0	0	0	0	0	0	0	1	12043	1219	43	5		5	PLCXD3	5	41381990	Silent	SNP	G	TCGA-DU-5851-01A-13D-1893-08	19629778	41381990	139533270	13	2390											
ERBB2IP	55914	broad.mit.edu	37	chr5	65349867	65349867	+	Frame_Shift_Del	DEL	A	A	-																															atcacatctgctgttgatggAaaaaatatagtcaggagcaa																										TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr5:65349867delA	uc003juk.2	+	20	3031	c.2721delA	c.(2719-2721)ggafs	p.G907fs	ERBB2IP_uc011cqx.2_Frame_Shift_Del_p.G907fs|ERBB2IP_uc003jui.2_Frame_Shift_Del_p.G907fs|ERBB2IP_uc003jul.2_Frame_Shift_Del_p.G903fs|ERBB2IP_uc011cqy.2_Frame_Shift_Del_p.G907fs|ERBB2IP_uc003juj.2_Frame_Shift_Del_p.G907fs|ERBB2IP_uc011cqz.2_Intron|ERBB2IP_uc010iwx.2_Frame_Shift_Del_p.G903fs	NM_001253697	NP_001240626	Q96RT1	LAP2_HUMAN	Homo sapiens erbb2 interacting protein (ERBB2IP), transcript variant 1, mRNA.	907					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CTGTTGATGGAAAAAATATAG	0.378													7	2068	---	---	---	---						-	65349867	A	-	65349867	7	5	57	1	0	1	0	1	0	0	0	0	5207	233	9	0	2795	0	ERBB2IP	5	65349867	Frame_Shift_Del	DEL	A	TCGA-DU-5851-01A-13D-1893-08	23967877	65349867	115565393	14	2391											
WWC1	23286	broad.mit.edu	37	chr5	167858267	167858267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctctaggaatatccgcGtggctgtccttccttgctct	4	14	8	15	2	2	0	0	0	2	0	6	1	6	1	4	2	1	2	4	2	3	4			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr5:167858267G>A	uc003lzu.3	+	14	2191	c.2098G>A	c.(2098-2100)Gtg>Atg	p.V700M	WWC1_uc003lzv.3_Missense_Mutation_p.V700M|WWC1_uc011den.2_Missense_Mutation_p.V700M|WWC1_uc003lzw.3_Missense_Mutation_p.V499M|WWC1_uc010jjf.1_5'UTR	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	700	C2.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	p.R699R(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GAATATCCGCGTGGCTGTCCT	0.532													7	125					0	0	0.001984	0	0	A	167858267	G	A	167858267	3	1	57	1	0	0	0	0	1	0	0	0	17408	1145	40	1	2156	1	WWC1	5	167858267	Missense_Mutation	SNP	G	TCGA-DU-5851-01A-13D-1893-08	102508400	167858267	13056993	15	2392											
BTNL8	79908	broad.mit.edu	37	chr5	180338425	180338425	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctcgggctggttccccCggcccacagcgaagtggaaa	8	6	13	14	3	0	0	0	0	0	0	3	2	2	1	4	4	1	2	4	4	2	1			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr5:180338425C>T	uc003mmp.3	+	2	718	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W	BTNL8_uc003mmq.3_Missense_Mutation_p.R162W|BTNL8_uc010jll.3_Missense_Mutation_p.R162W|BTNL8_uc011dhg.2_Missense_Mutation_p.R37W|BTNL8_uc010jlm.3_Missense_Mutation_p.R46W|BTNL8_uc011dhh.2_5'UTR	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	162	Ig-like V-type 2.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGTTCCCCCGGCCCACAGC	0.527													80	358					0	0	0.00361	0	0	T	180338425	C	T	180338425	3	4	57	1	0	0	0	0	1	0	0	0	1567	643	23	2	520	2	BTNL8	5	180338425	Missense_Mutation	SNP	C	TCGA-DU-5851-01A-13D-1893-08	12480158	180338425	576835	16	2393											
HIST1H1C	3006	broad.mit.edu	37	chr6	26056346	26056346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccttcttgttgagtttaaagGagccagaagcaccggtgcct	9	11	11	10	1	1	2	0	1	1	1	1	3	1	3	4	2	3	3	4	2	3	5			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr6:26056346G>A	uc003nfw.3	-	0	354	c.311C>T	c.(310-312)tCc>tTc	p.S104F		NM_005319	NP_005310	P16403	H12_HUMAN	Homo sapiens histone cluster 1, H1c (HIST1H1C), mRNA.	104	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GAGTTTAAAGGAGCCAGAAGC	0.527													46	164					0	0	0.00361	0	0	A	26056346	G	A	26056346	3	1	57	1	0	0	0	0	1	0	0	0	7124	1174	41	3	334	3	HIST1H1C	6	26056346	Missense_Mutation	SNP	G	TCGA-DU-5851-01A-13D-1893-08		26056346	145058721	17	2394											
SDK1	221935	broad.mit.edu	37	chr7	4259754	4259754	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaggggtgagcaaggtGgtgaccgtggaagtgagagg	9	6	21	5	1	0	3	0	3	0	1	0	5	0	4	1	6	2	3	1	6	2	0			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr7:4259754G>T	uc003smx.3	+	38	5692	c.5553G>T	c.(5551-5553)gtG>gtT	p.V1851V	SDK1_uc010kso.3_Silent_p.V1107V|SDK1_uc003smy.3_Silent_p.V338V	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1851	Fibronectin type-III 12.				cell adhesion	integral to membrane		p.V1851V(2)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGAGCAAGGTGGTGACCGTGG	0.567													22	114					5.26018e-13	6.31221e-13	0.001882	1	0	T	4259754	G	T	4259754	2	4	57	1	0	0	0	0	0	0	0	1	13968	1335	47	5		5	SDK1	7	4259754	Silent	SNP	G	TCGA-DU-5851-01A-13D-1893-08		4259754	154878909	18	2395											
RADIL	55698	broad.mit.edu	37	chr7	4855893	4855893	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggttgagaagcagtgtcccGgagaagaagaagaggtaggc	13	6	17	5	1	0	5	0	1	0	5	1	7	1	5	1	4	1	3	1	4	5	2			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr7:4855893G>A	uc003snj.1	-	7	2105	c.1932C>T	c.(1930-1932)tcC>tcT	p.S644S	RADIL_uc003sng.1_Non-coding_Transcript|RADIL_uc003sni.1_Silent_p.S149S|RADIL_uc011jwc.1_Silent_p.S404S|RADIL_uc011jwd.1_Non-coding_Transcript	NM_018059	NP_060529	Q96JH8	RADIL_HUMAN	Homo sapiens Ras association and DIL domains (RADIL), mRNA.	644	Dilute.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GCAGTGTCCCGGAGAAGAAGA	0.657													16	49					0	0	0.006122	0	0	A	4855893	G	A	4855893	2	1	57	1	0	0	0	0	0	0	0	1	12997	1103	39	2		2	RADIL	7	4855893	Silent	SNP	G	TCGA-DU-5851-01A-13D-1893-08	596139	4855893	154282770	19	2396											
CNGB3	54714	broad.mit.edu	37	chr8	87683282	87683282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggttgtgtagctgggcatcgGcatactcatttataacagga	10	12	12	7	1	1	0	1	0	0	0	2	1	1	1	0	4	3	5	0	4	4	6			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr8:87683282G>A	uc003ydx.3	-	3	431	c.383C>T	c.(382-384)gCc>gTc	p.A128V	CNGB3_uc010maj.3_5'UTR	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	128					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CTGGGCATCGGCATACTCATT	0.453													6	443					0	0	0.001984	0	0	A	87683282	G	A	87683282	3	1	57	1	0	0	0	0	1	0	0	0	3601	1203	42	3	2106	3	CNGB3	8	87683282	Missense_Mutation	SNP	G	TCGA-DU-5851-01A-13D-1893-08		87683282	58680740	20	2397											
GLIS3	169792	broad.mit.edu	37	chr9	3828287	3828287	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcttttagccttcggtgtaGacagaggagagctggctagg	9	10	15	7	1	0	3	0	0	0	3	1	4	0	3	1	4	3	4	1	4	3	5			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr9:3828287G>C	uc003zhx.1	-	10	3491	c.2778C>G	c.(2776-2778)gtC>gtG	p.V926V	GLIS3_uc010mhf.1_Silent_p.V320V|GLIS3_uc003zhv.1_Non-coding_Transcript|GLIS3_uc003zhw.1_Silent_p.V771V	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	771					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CTTCGGTGTAGACAGAGGAGA	0.562													11	29					0	0	0.000978	0	0	C	3828287	G	C	3828287	2	2	57	1	0	0	0	0	0	0	0	1	6447	929	33	5		5	GLIS3	9	3828287	Silent	SNP	G	TCGA-DU-5851-01A-13D-1893-08		3828287	137385144	21	2398											
PPIF	10105	broad.mit.edu	37	chr10	81113478	81113478	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggttggatggcaagcaTgttgtgttcggtcacgtcaa	9	11	13	8	2	2	0	2	0	0	0	3	1	2	1	0	4	1	5	0	4	2	3			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr10:81113478T>C	uc001kai.3	+	5	589	c.504T>C	c.(502-504)caT>caC	p.H168H	PPIF_uc001kaj.3_Missense_Mutation_p.M143T	NM_005729	NP_005720	P30405	PPIF_HUMAN	Homo sapiens peptidylprolyl isomerase F (PPIF), nuclear gene encoding mitochondrial protein, mRNA.	168	PPIase cyclophilin-type.				protein folding	membrane fraction|mitochondrial matrix	peptidyl-prolyl cis-trans isomerase activity			endometrium(2)|lung(2)|skin(2)	6	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		Dimethyl sulfoxide(DB01093)|L-Proline(DB00172)	ATGGCAAGCATGTTGTGTTCG	0.502													37	132					0	0	0.002852	0	0	C	81113478	T	C	81113478	2	2	57	1	0	0	0	0	0	0	0	1	12323	1461	51	3		3	PPIF	10	81113478	Silent	SNP	T	TCGA-DU-5851-01A-13D-1893-08		81113478	54421269	22	2399											
CTR9	9646	broad.mit.edu	37	chr11	10783517	10783517	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gattccattaaaaatggtgtCcagcttctttccagagccta	11	13	7	10	0	1	1	0	0	1	1	4	2	4	1	4	1	2	1	4	1	4	5			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr11:10783517C>T	uc001mja.3	+	6	914	c.765C>T	c.(763-765)gtC>gtT	p.V255V		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA.	255					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AAAATGGTGTCCAGCTTCTTT	0.343													10	55					0	0	0.000978	0	0	T	10783517	C	T	10783517	2	4	57	1	0	0	0	0	0	0	0	1	4024	842	30	3		3	CTR9	11	10783517	Silent	SNP	C	TCGA-DU-5851-01A-13D-1893-08		10783517	124222999	23	2400											
PYGL	5836	broad.mit.edu	37	chr14	51378916	51378916	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagacagttcaagagctgtcGcttgtactcatgtatcctct	9	13	8	11	1	3	2	2	0	1	2	5	2	4	2	1	0	2	5	1	0	3	4			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr14:51378916G>A	uc001wyu.3	-	13	1853	c.1726C>T	c.(1726-1728)Cga>Tga	p.R576*	PYGL_uc010tqq.2_Nonsense_Mutation_p.R542*	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	576					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	AAGAGCTGTCGCTTGTACTCA	0.493													6	238					0	0	0.001168	0	0	A	51378916	G	A	51378916	4	1	57	1	0	0	0	0	0	1	0	0	12861	1095	38	1	845	1	PYGL	14	51378916	Nonsense_Mutation	SNP	G	TCGA-DU-5851-01A-13D-1893-08		51378916	55970624	24	2401											
AHNAK2	113146	broad.mit.edu	37	chr14	105413659	105413659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagtttcacatccacctggCcagcctggacctccagttgg	7	9	11	14	0	1	0	1	0	0	0	3	2	3	2	6	4	1	2	6	4	0	2			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr14:105413659C>T	uc010axc.1	-	6	8249	c.8129G>A	c.(8128-8130)gGc>gAc	p.G2710D	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.G2610D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2710						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATCCACCTGGCCAGCCTGGAC	0.607													88	234					0	0	0.00361	0	0	T	105413659	C	T	105413659	3	4	57	1	0	0	0	0	1	0	0	0	415	739	26	3	9262	3	AHNAK2	14	105413659	Missense_Mutation	SNP	C	TCGA-DU-5851-01A-13D-1893-08	54034743	105413659	1935881	25	2402											
GPR176	11245	broad.mit.edu	37	chr15	40093791	40093791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggagctggctacccgagcGtatgctgggttccaggctgg	6	8	16	11	2	0	0	0	0	0	0	1	2	1	1	2	5	4	6	2	5	2	3			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr15:40093791G>A	uc001zkj.1	-	2	1956	c.1090C>T	c.(1090-1092)Cgc>Tgc	p.R364C	GPR176_uc010uck.1_Missense_Mutation_p.R304C	NM_007223	NP_009154	Q14439	GP176_HUMAN	Homo sapiens G protein-coupled receptor 176 (GPR176), mRNA.	364					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	p.R364H(1)		central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		CTACCCGAGCGTATGCTGGGT	0.567													4	164					0	0	0.000248	0	0	A	40093791	G	A	40093791	3	1	57	1	0	0	0	0	1	0	0	0	6673	1145	40	1	461	1	GPR176	15	40093791	Missense_Mutation	SNP	G	TCGA-DU-5851-01A-13D-1893-08		40093791	62437601	26	2403											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			17	19					0	0	0.004007	0	0	A	7577121	G	A	7577121	3	1	57	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DU-5851-01A-13D-1893-08		7577121	73618089	27	2404											
SERPINB12	89777	broad.mit.edu	37	chr18	61225658	61225658	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgaaaagcaacaaacaaaAagtgctggctgacagctctc	16	7	8	10	0	2	2	0	2	2	0	3	2	2	2	0	1	5	4	0	1	6	0			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr18:61225658A>T	uc010xeo.2	+	1	242	c.242A>T	c.(241-243)aAa>aTa	p.K81I	SERPINB12_uc010xen.2_Splice_Site_p.K81_splice	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	81					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AACAAACAAAAAGTGCTGGCT	0.463													23	76					0	0	0.004656	0	0	T	61225658	A	T	61225658	3	4	57	1	0	0	0	0	1	0	0	0	14099	28	1	5	248	5	SERPINB12	18	61225658	Missense_Mutation	SNP	A	TCGA-DU-5851-01A-13D-1893-08		61225658	16851590	28	2405											
MXRA5	25878	broad.mit.edu	37	chrX	3240116	3240116	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactgtgttatccacccaagCtgtaggaaccagagaactct	13	9	8	11	0	1	1	0	0	1	1	2	3	2	2	3	1	4	3	3	1	6	2			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chrX:3240116C>T	uc004crg.4	-	4	3767	c.3610G>A	c.(3610-3612)Gct>Act	p.A1204T		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1204						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCCACCCAAGCTGTAGGAACC	0.458													5	182					0	0	0.000602	0	0	T	3240116	C	T	3240116	3	4	57	1	0	0	0	0	1	0	0	0	10003	797	28	3	4888	3	MXRA5	23	3240116	Missense_Mutation	SNP	C	TCGA-DU-5851-01A-13D-1893-08		3240116	152030444	29	2406											
ZC3H12B	340554	broad.mit.edu	37	chrX	64719804	64719804	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaggacgccacggcccaaGccttgaaaatttcttaagaa	14	9	8	10	2	1	2	0	1	1	1	1	3	1	3	3	2	1	0	3	2	6	4			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chrX:64719804G>T	uc010nko.3	+	3	1092	c.1025G>T	c.(1024-1026)aGc>aTc	p.S342I		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.	331							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CACGGCCCAAGCCTTGAAAAT	0.443													59	261					1.42676e-28	1.87915e-28	0.00361	1	0	T	64719804	G	T	64719804	3	4	57	1	0	0	0	0	1	0	0	0	17559	971	34	5	1039	5	ZC3H12B	23	64719804	Missense_Mutation	SNP	G	TCGA-DU-5851-01A-13D-1893-08	61479688	64719804	90550756	30	2407											
RLIM	51132	broad.mit.edu	37	chrX	73811938	73811938	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcattatctgccttaacatGgtctgaattgcaacagatgt	11	14	8	8	0	3	2	1	1	2	1	3	2	3	2	1	1	4	1	1	1	4	3	rs61754468	by1000genomes	TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chrX:73811938G>C	uc004ebu.3	-	4	1502	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_uc004ebw.3_Silent_p.T404T	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	Homo sapiens ring finger protein, LIM domain interacting (RLIM), transcript variant 2, mRNA.	404					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	p.T404T(12)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413													4	157					0	0	0.000248	0	0	C	73811938	G	C	73811938	2	2	57	1	0	0	0	0	0	0	0	1	13390	1335	47	5		5	RLIM	23	73811938	Silent	SNP	G	TCGA-DU-5851-01A-13D-1893-08	9092134	73811938	81458622	31	2408											
ATRX	546	broad.mit.edu	37	chrX	76939056	76939060	+	Frame_Shift_Del	DEL	ATTTA	ATTTA	-																															ctgttgtcttttgaagaaatAtttaattttacagatgaact																										TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chrX:76939056_76939060delATTTA	uc004ecp.4	-	8	1920_1924	c.1688_1692delTAAAT	c.(1687-1692)ttaaatfs	p.L563fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.L525fs|ATRX_uc004eco.4_Frame_Shift_Del_p.L348fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.L524fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.L563fs|ATRX_uc010nly.1_Frame_Shift_Del_p.L508fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	563					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTGAAGAAATATTTAATTTTACAGA	0.351			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						75	356	---	---	---	---						-	76939060	ATTTA	-	76939056	7	5	57	1	0	1	0	1	0	0	0	0	1208	446	16	0	5894	0	ATRX	23	76939056	Frame_Shift_Del	DEL	ATTTA	TCGA-DU-5851-01A-13D-1893-08	3127118	76939056	78331504	32	2409											
COL4A5	1287	broad.mit.edu	37	chrX	107840717	107840717	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggagagttgggttccccTggagctccagggcttcctgg	7	9	15	10	0	0	1	0	0	0	1	3	3	3	2	4	5	1	4	4	5	1	3	rs143442986		TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chrX:107840717T>C	uc022ccg.1	+	23	1900	c.1698T>C	c.(1696-1698)ccT>ccC	p.P566P	COL4A5_uc004enz.1_Silent_p.P566P|COL4A5_uc004eob.1_Silent_p.P174P	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	566	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TGGGTTCCCCTGGAGCTCCAG	0.537									Alport syndrome with Diffuse Leiomyomatosis				6	96					0	0	0.001984	0	0	C	107840717	T	C	107840717	2	2	57	1	0	0	0	0	0	0	0	1	3694	1567	55	4		4	COL4A5	23	107840717	Silent	SNP	T	TCGA-DU-5851-01A-13D-1893-08	30901661	107840717	47429843	33	2410											
SAGE1	55511	broad.mit.edu	37	chrX	134988650	134988650	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataacgtgttgttgactcttCgaccacggcgtattaatatg	10	14	9	8	4	1	1	0	1	1	0	2	2	1	1	1	1	1	3	1	1	4	7			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chrX:134988650C>T	uc004ezh.3	+	6	843	c.676C>T	c.(676-678)Cga>Tga	p.R226*	SAGE1_uc010nry.1_Nonsense_Mutation_p.R195*|SAGE1_uc011mvv.2_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	226										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GTTGACTCTTCGACCACGGCG	0.428													11	287					0	0	0.000978	0	0	T	134988650	C	T	134988650	4	4	57	1	0	0	0	0	0	1	0	0	13809	876	31	2	698	2	SAGE1	23	134988650	Nonsense_Mutation	SNP	C	TCGA-DU-5851-01A-13D-1893-08	27147933	134988650	20281910	34	2411											
LOC440563	440563	broad.mit.edu	37	chr1	13183413	13183413	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccacttttgccccttcGtgaggtgtttcctgatatgc	6	14	10	11	1	0	2	0	2	0	0	2	3	1	2	4	1	3	1	4	1	2	5			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:13183413G>A	uc010obg.2	-	1	703	c.460C>T	c.(460-462)Cga>Tga	p.R154*		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	154						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										TTGCCCCTTCGTGAGGTGTTT	0.512													61	220					0	0	1	0	0	A	13183413	G	A	13183413	4	1	58	1	0	0	0	0	0	1	0	0	8879	1153	40	1	425	1	LOC440563	1	13183413	Nonsense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08		13183413	236067208	1	2412											
NRD1	4898	broad.mit.edu	37	chr1	52301821	52301821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actgtgctccaaaaagtgtgCcagccccggcaggtcatctg	9	8	11	13	1	2	0	1	0	1	0	3	0	3	0	4	2	3	2	4	2	2	0			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:52301821C>T	uc001ctc.4	-	4	1220	c.898G>A	c.(898-900)Gca>Aca	p.A300T	NRD1_uc009vzb.3_5'UTR|NRD1_uc001cte.3_Missense_Mutation_p.A168T|NRD1_uc001ctd.4_Missense_Mutation_p.A232T|NRD1_uc001ctf.2_Missense_Mutation_p.A232T|NRD1_uc010ong.1_Non-coding_Transcript|NRD1_uc009vzc.1_Missense_Mutation_p.A100T	NM_002525	NP_001229290	O43847	NRDC_HUMAN	Homo sapiens nardilysin (N-arginine dibasic convertase) (NRD1), transcript variant 1, mRNA.	231					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AAAAAGTGTGCCAGCCCCGGC	0.418													3	32					0	0	1	0	0	T	52301821	C	T	52301821	3	4	58	1	0	0	0	0	1	0	0	0	10645	739	26	3	2877	3	NRD1	1	52301821	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	39118408	52301821	196948800	2	2413											
ABCA4	24	broad.mit.edu	37	chr1	94486867	94486867	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggtgattccatactcctcGgggctcctgtccttaggcag	6	11	11	13	2	0	1	0	1	0	0	5	1	4	1	4	4	1	2	4	4	2	3	rs61750159		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:94486867G>A	uc001dqh.3	-	34	5051	c.4947C>T	c.(4945-4947)ccC>ccT	p.P1649P	ABCA4_uc009wdp.1_5'Flank	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1649					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CATACTCCTCGGGGCTCCTGT	0.557													47	84					0	0	1	0	0	A	94486867	G	A	94486867	2	1	58	1	0	0	0	0	0	0	0	1	34	1103	39	2		2	ABCA4	1	94486867	Silent	SNP	G	TCGA-DU-5852-01A-11D-1705-08	42185046	94486867	154763754	3	2414											
PPM1J	333926	broad.mit.edu	37	chr1	113252867	113252867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcttgttgttggggagaCgccagccacggtctcggggg	5	8	17	11	3	1	1	0	0	1	1	2	2	1	1	3	5	2	3	3	5	0	3	rs113935705	byFrequency	TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:113252867C>T	uc001ect.1	-	9	1463	c.1436G>A	c.(1435-1437)cGt>cAt	p.R479H	RHOC_uc001ecq.1_5'Flank|RHOC_uc001ecr.1_5'Flank|RHOC_uc009wgk.1_5'Flank|PPM1J_uc009wgl.1_Intron|PPM1J_uc001ecs.1_Missense_Mutation_p.R273H	NM_005167	NP_005158	Q5JR12	PPM1J_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1J (PPM1J), mRNA.	479	PP2C-like.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTGGGGAGACGCCAGCCACG	0.622													34	64					0	0	1	0	0	T	113252867	C	T	113252867	3	4	58	1	0	0	0	0	1	0	0	0	12342	536	19	1	85	1	PPM1J	1	113252867	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	18766000	113252867	135997754	4	2415											
AIM2	9447	broad.mit.edu	37	chr1	159032502	159032504	+	In_Frame_Del	DEL	TAA	TAA	-																															ctatgttttttttttggcctTaataacctggatggagaaaa																										TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:159032502_159032504delTAA	uc001ftj.1	-	5	1255_1257	c.1010_1012delTTA	c.(1009-1014)attaag>aag	p.I337del		NM_004833	NP_004824	O14862	AIM2_HUMAN	Homo sapiens absent in melanoma 2 (AIM2), mRNA.	337	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus		p.V336F(1)		breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TTTTTGGCCTTAATAACCTGGAT	0.399													17	54	---	---	---	---						-	159032504	TAA	-	159032502	7	5	58	1	0	1	0	1	0	0	0	0	432	1763	61	0	23	0	AIM2	1	159032502	In_Frame_Del	DEL	TAA	TCGA-DU-5852-01A-11D-1705-08	45779635	159032502	90218119	5	2416											
SLAMF7	57823	broad.mit.edu	37	chr1	160719612	160719612	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttttccttcctctcacagaGcacctgtcaaagcctaaagt	10	12	6	13	0	2	1	2	0	1	1	5	1	4	1	4	0	2	2	4	0	3	4			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:160719612G>A	uc001fwq.3	+	3	392	c.377_splice	c.e3-1	p.E126_splice	SLAMF7_uc010pjn.2_Splice_Site_p.E19_splice|SLAMF7_uc001fws.3_Splice_Site_p.E19_splice|SLAMF7_uc001fwr.3_Splice_Site_p.E126_splice|SLAMF7_uc010pjo.2_Intron|SLAMF7_uc010pjp.2_Splice_Site_p.E19_splice|SLAMF7_uc010pjq.2_Intron|SLAMF7_uc010pjr.2_Splice_Site_p.E19_splice	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	Homo sapiens SLAM family member 7 (SLAMF7), mRNA.	126					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTCTCACAGAGCACCTGTCAA	0.493													51	84					0	0	1	0	0	A	160719612	G	A	160719612	5	1	58	1	0	0	0	0	0	0	1	0	14369	985	34	3	388	3	SLAMF7	1	160719612	Splice_Site	SNP	G	TCGA-DU-5852-01A-11D-1705-08	1687110	160719612	88531009	6	2417											
F5	2153	broad.mit.edu	37	chr1	169512193	169512193	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcatcttcaggttctaaaCgatcatgcattttccgtgta	9	16	6	10	2	5	0	3	0	2	0	6	1	6	0	1	1	2	3	1	1	3	7			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:169512193C>T	uc001ggg.1	-	12	2280	c.2135G>A	c.(2134-2136)cGt>cAt	p.R712H		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	712	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AGGTTCTAAACGATCATGCAT	0.403													75	147					0	0	1	0	0	T	169512193	C	T	169512193	3	4	58	1	0	0	0	0	1	0	0	0	5348	536	19	1	4591	1	F5	1	169512193	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	8792581	169512193	79738428	7	2418											
SLC35F3	148641	broad.mit.edu	37	chr1	234041367	234041367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacttggtggtggacgaggCgattaaggaggatctgaaat	11	10	16	4	2	1	1	0	1	1	0	1	6	1	4	0	6	1	1	0	6	3	3	rs146928346		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:234041367C>T	uc001hvy.1	+	1	291	c.146C>T	c.(145-147)gCg>gTg	p.A49V		NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	0					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GTGGACGAGGCGATTAAGGAG	0.647													18	43					0	0	1	0	0	T	234041367	C	T	234041367	3	4	58	1	0	0	0	0	1	0	0	0	14590	768	27	1	152	1	SLC35F3	1	234041367	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	64529174	234041367	15209254	8	2419											
OR14C36	127066	broad.mit.edu	37	chr1	248512354	248512354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaccaccatttctaaggCgggatgtgtagctcaggtct	9	10	11	11	1	3	0	1	0	2	0	3	1	3	1	2	3	2	3	2	3	2	3	rs145207343		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:248512354C>T	uc010pzl.2	+	0	278	c.278C>T	c.(277-279)gCg>gTg	p.A93V		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A93E(2)|p.A93A(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						ATTTCTAAGGCGGGATGTGTA	0.473													21	29					0	0	1	0	0	T	248512354	C	T	248512354	3	4	58	1	0	0	0	0	1	0	0	0	10946	768	27	1	280	1	OR14C36	1	248512354	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	14470987	248512354	738267	9	2420											
C2orf56	55471	broad.mit.edu	37	chr2	37468832	37468832	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgacactgactaaagagaagGtcccgttagagcgaaatgct	14	8	11	8	2	0	4	0	2	0	2	1	6	1	4	1	1	2	2	1	1	5	2			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr2:37468832G>T	uc002rqa.4	+	4	595	c.520G>T	c.(520-522)Gtc>Ttc	p.V174F	C2orf56_uc010ynj.1_Non-coding_Transcript|C2orf56_uc002rqc.4_Intron|C2orf56_uc010ynk.2_Intron|C2orf56_uc010ynl.2_Missense_Mutation_p.V147F|C2orf56_uc010fah.3_Intron	NM_144736	NP_653337	Q7L592	MIDA_HUMAN	Homo sapiens chromosome 2 open reading frame 56 (C2orf56), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	174					mitochondrial respiratory chain complex I assembly	mitochondrion	enzyme binding|methyltransferase activity			central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13		all_hematologic(82;0.21)				TAAAGAGAAGGTCCCGTTAGA	0.423													13	25					2.62699e-14	2.75576e-14	1	1	0	T	37468832	G	T	37468832	3	4	58	1	0	0	0	0	1	0	0	0	2177	1261	44	5	538	5	C2orf56	2	37468832	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08		37468832	205730541	10	2421											
USP34	9736	broad.mit.edu	37	chr2	61468710	61468710	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatacctctagtaactctgaCgaaacatcaaatttgtattc	14	14	4	9	1	3	1	1	1	2	0	4	2	3	1	1	0	3	2	1	0	7	7			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr2:61468710C>T	uc002sbe.3	-	52	6784	c.6762G>A	c.(6760-6762)tcG>tcA	p.S2254S	USP34_uc002sbf.3_Silent_p.S404S	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	2254					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTAACTCTGACGAAACATCAA	0.328													12	26					0	0	1	0	0	T	61468710	C	T	61468710	2	4	58	1	0	0	0	0	0	0	0	1	17062	523	19	1		1	USP34	2	61468710	Silent	SNP	C	TCGA-DU-5852-01A-11D-1705-08	23999878	61468710	181730663	11	2422											
PAX8	7849	broad.mit.edu	37	chr2	114002201	114002201	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgctgccagtctcgtagtaCctactccaatagagaatccc	11	10	7	13	1	1	1	0	0	1	1	4	2	3	1	4	0	4	3	4	0	6	4			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr2:114002201C>A	uc010yxt.2	-	4	358	c.192_splice	c.e4-1	p.R64_splice	PAX8_uc010yxu.2_Splice_Site_p.R64_splice|PAX8_uc002tjm.3_Splice_Site_p.R64_splice|PAX8_uc002tjn.3_Splice_Site_p.R64_splice|PAX8_uc010fku.1_Splice_Site_p.R64_splice|LOC654433_uc002tjq.4_Intron|LOC654433_uc010fks.3_Intron|LOC654433_uc010fkt.3_Intron|LOC654433_uc002tjr.4_Intron	NM_003466	NP_003457	Q06710	PAX8_HUMAN	Homo sapiens paired box 8 (PAX8), transcript variant PAX8A, mRNA.	64	Paired.				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric S-shaped body morphogenesis|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						TCTCGTAGTACCTACTCCAAT	0.552			T	PPARG	follicular thyroid		Thyroid dysgenesis						29	109					2.08457e-15	2.23049e-15	1	1	0	A	114002201	C	A	114002201	5	1	58	1	0	0	0	0	0	0	1	0	11485	521	18	5	1071	5	PAX8	2	114002201	Splice_Site	SNP	C	TCGA-DU-5852-01A-11D-1705-08	52533491	114002201	129197172	12	2423											
HRH1	3269	broad.mit.edu	37	chr3	11301013	11301013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaagtggtcactgggccGtcctctctgcctcttttggc	3	13	11	14	1	3	0	1	0	2	0	6	0	5	0	4	3	1	0	4	3	1	2	rs139664451	byFrequency	TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr3:11301013G>A	uc010hdr.3	+	1	632	c.290G>A	c.(289-291)cGt>cAt	p.R97H	HRH1_uc010hds.3_Missense_Mutation_p.R97H|HRH1_uc010hdt.3_Missense_Mutation_p.R97H|HRH1_uc003bwb.4_Missense_Mutation_p.R97H|HRH1_uc021wtb.1_Missense_Mutation_p.R97H	NM_001098213	NP_001091683	P35367	HRH1_HUMAN	Homo sapiens histamine receptor H1 (HRH1), transcript variant 1, mRNA.	97					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TCACTGGGCCGTCCTCTCTGC	0.552													88	103					0	0	1	0	0	A	11301013	G	A	11301013	3	1	58	1	0	0	0	0	1	0	0	0	7355	1145	40	1	292	1	HRH1	3	11301013	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08		11301013	186721417	13	2424											
PBRM1	55193	broad.mit.edu	37	chr3	52651430	52651430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gatgattttataataatcagGatagtcctttttggatggtt	11	18	9	3	0	1	1	1	1	0	0	2	4	2	3	1	3	0	1	1	3	4	8			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr3:52651430G>A	uc003des.2	-	13	1678	c.1666C>T	c.(1666-1668)Cct>Tct	p.P556S	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Missense_Mutation_p.P556S|PBRM1_uc003der.2_Missense_Mutation_p.P524S|PBRM1_uc003det.2_Missense_Mutation_p.P571S|PBRM1_uc003deu.2_Missense_Mutation_p.P571S|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Missense_Mutation_p.P556S|PBRM1_uc010hmk.1_Missense_Mutation_p.P556S|PBRM1_uc003dey.2_Missense_Mutation_p.P556S|PBRM1_uc003dez.1_Missense_Mutation_p.P556S|PBRM1_uc003dfb.1_Missense_Mutation_p.P469S|PBRM1_uc003dfc.3_5'Flank	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	556	Bromo 4.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TAATAATCAGGATAGTCCTTT	0.363			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								22	38					0	0	1	0	0	A	52651430	G	A	52651430	3	1	58	1	0	0	0	0	1	0	0	0	11491	1174	41	3	3302	3	PBRM1	3	52651430	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	41350417	52651430	145371000	14	2425											
BRD2	6046	broad.mit.edu	37	chr6	32947789	32947789	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccaagccagggagccctctTtacgtgattcaaacccagaa	12	8	8	13	1	2	2	1	1	1	1	3	3	3	3	4	1	4	0	4	1	4	3			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr6:32947789T>A	uc010juh.3	+	10	3435	c.2131T>A	c.(2131-2133)Tta>Ata	p.L711I	BRD2_uc003ocn.4_Missense_Mutation_p.L676I|BRD2_uc003ocp.4_Missense_Mutation_p.L556I|BRD2_uc003ocq.4_Missense_Mutation_p.L676I|BRD2_uc021ywf.1_Missense_Mutation_p.L629I	NM_001199455	NP_001186384	P25440	BRD2_HUMAN	Homo sapiens bromodomain containing 2 (BRD2), transcript variant 3, mRNA.	676	ET.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						GGAGCCCTCTTTACGTGATTC	0.483													14	33					0	0	1	0	0	A	32947789	T	A	32947789	3	1	58	1	0	0	0	0	1	0	0	0	1502	1838	64	5	2064	5	BRD2	6	32947789	Missense_Mutation	SNP	T	TCGA-DU-5852-01A-11D-1705-08		32947789	138167278	15	2426											
PACSIN1	29993	broad.mit.edu	37	chr6	34498365	34498365	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caggctggggaccgcggcagGtgagtgcctcctgtggagct	5	7	18	11	2	0	1	0	1	0	0	1	3	1	3	3	6	2	3	3	6	0	0			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr6:34498365G>A	uc003ojo.3	+	8	1295	c.1037_splice	c.e8+1	p.S346_splice	PACSIN1_uc003ojp.3_Splice_Site_p.S346_splice	NM_020804	NP_065855	Q9BY11	PACN1_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 1 (PACSIN1), transcript variant 1, mRNA.	346					endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						ACCGCGGCAGGTGAGTGCCTC	0.582													9	10					0	0	1	0	0	A	34498365	G	A	34498365	5	1	58	1	0	0	0	0	0	0	1	0	11374	1275	44	3	1064	3	PACSIN1	6	34498365	Splice_Site	SNP	G	TCGA-DU-5852-01A-11D-1705-08	1550576	34498365	136616702	16	2427											
GPR115	221393	broad.mit.edu	37	chr6	47680159	47680159	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctgcatattctagactttCgagctccagagaccattgag	10	12	8	11	1	2	3	0	1	2	2	4	5	3	3	2	0	2	2	2	0	2	5			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr6:47680159C>T	uc003oyz.1	+	5	538	c.538C>T	c.(538-540)Cga>Tga	p.R180*	GPR115_uc003oza.1_Nonsense_Mutation_p.R123*|GPR115_uc003ozb.1_Nonsense_Mutation_p.R123*|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	123					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R123*(1)|p.R180R(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TCTAGACTTTCGAGCTCCAGA	0.423													50	113					0	0	1	0	0	T	47680159	C	T	47680159	4	4	58	1	0	0	0	0	0	1	0	0	6632	876	31	2	381	2	GPR115	6	47680159	Nonsense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	13181794	47680159	123434908	17	2428											
FILIP1	27145	broad.mit.edu	37	chr6	76024624	76024624	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatgctcttgagaaaacctCgaagccttgtgttcaaagtc	11	12	8	10	1	3	1	2	1	1	1	5	3	3	1	2	0	3	2	2	0	4	3			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr6:76024624C>T	uc010kbe.3	-	5	1463	c.933G>A	c.(931-933)tcG>tcA	p.S311S	FILIP1_uc003phy.1_Silent_p.S308S|FILIP1_uc003phz.3_Silent_p.S209S|FILIP1_uc003pia.3_Silent_p.S308S|FILIP1_uc003pib.1_Silent_p.S60S	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	308										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GAGAAAACCTCGAAGCCTTGT	0.418													57	83					0	0	1	0	0	T	76024624	C	T	76024624	2	4	58	1	0	0	0	0	0	0	0	1	5894	871	31	2		2	FILIP1	6	76024624	Silent	SNP	C	TCGA-DU-5852-01A-11D-1705-08	28344465	76024624	95090443	18	2429											
HACE1	57531	broad.mit.edu	37	chr6	105232863	105232863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccaaaactttcttaccccGgaggcatctgacaagaacag	14	7	8	12	1	2	2	0	1	2	1	2	3	2	3	3	2	4	1	3	2	5	2			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr6:105232863G>A	uc003pqu.1	-	11	1683	c.1406C>T	c.(1405-1407)cCg>cTg	p.P469L	HACE1_uc010kcy.1_5'UTR|HACE1_uc010kcz.1_Missense_Mutation_p.P469L|HACE1_uc010kcx.1_5'UTR|HACE1_uc003pqt.1_Missense_Mutation_p.P122L	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN	Homo sapiens HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 (HACE1), mRNA.	469					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TTCTTACCCCGGAGGCATCTG	0.348													21	36					0	0	1	0	0	A	105232863	G	A	105232863	3	1	58	1	0	0	0	0	1	0	0	0	6940	1116	39	2	1375	2	HACE1	6	105232863	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	29208239	105232863	65882204	19	2430											
SLC35F1	222553	broad.mit.edu	37	chr6	118635328	118635328	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaggacctgttgtggacttAccgaccacagctcaggtgga	9	9	12	11	1	2	0	2	0	0	0	2	4	2	3	3	4	2	2	3	4	1	2			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr6:118635328A>C	uc003pxx.4	+	7	1341	c.1140A>C	c.(1138-1140)ttA>ttC	p.L380F		NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	Homo sapiens solute carrier family 35, member F1 (SLC35F1), mRNA.	380					transport	integral to membrane		p.D379E(1)		breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TTGTGGACTTACCGACCACAG	0.597													30	54					0	0	1	0	0	C	118635328	A	C	118635328	3	2	58	1	0	0	0	0	1	0	0	0	14588	388	14	5	1170	5	SLC35F1	6	118635328	Missense_Mutation	SNP	A	TCGA-DU-5852-01A-11D-1705-08	13402465	118635328	52479739	20	2431											
COBL	23242	broad.mit.edu	37	chr7	51287614	51287614	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcagcctttccaggaggTgggggagcacgagccttcat	7	8	16	10	1	1	0	1	0	0	0	2	3	2	2	3	5	3	2	3	5	0	2	rs145775268	by1000genomes	TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr7:51287614T>G	uc003tps.3	-	1	254	c.69A>C	c.(67-69)ccA>ccC	p.P23P	COBL_uc003tpr.4_Silent_p.P23P|COBL_uc011kcl.2_Silent_p.P23P|COBL_uc010kzc.3_Silent_p.P23P|COBL_uc003tpt.3_Silent_p.P23P	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	23	Poly-Pro.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTCCAGGAGGTGGGGGAGCAC	0.552													6	25					0	0	1	0	0	G	51287614	T	G	51287614	2	3	58	1	0	0	0	0	0	0	0	1	3653	1683	59	5		5	COBL	7	51287614	Silent	SNP	T	TCGA-DU-5852-01A-11D-1705-08		51287614	107851049	21	2432											
EGFR	1956	broad.mit.edu	37	chr7	55221710	55221710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcctccataggtctgcCgcaaattccgagacgaagcc	9	9	8	15	3	2	1	0	0	2	1	6	3	5	1	5	1	2	1	5	1	3	2			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr7:55221710C>T	uc003tqk.3	+	6	1000	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C	EGFR_uc003tqh.3_Missense_Mutation_p.R252C|EGFR_uc003tqi.3_Missense_Mutation_p.R252C|EGFR_uc003tqj.3_Missense_Mutation_p.R252C|EGFR_uc022adm.1_Missense_Mutation_p.R252C|EGFR_uc010kzg.2_Missense_Mutation_p.R207C|EGFR_uc022adn.1_Missense_Mutation_p.R207C|EGFR_uc011kco.2_Missense_Mutation_p.R199C|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	252					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.R252C(2)|p.C251Y(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ATAGGTCTGCCGCAAATTCCG	0.582		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			40	140					0	0	1	0	0	T	55221710	C	T	55221710	3	4	58	1	0	0	0	0	1	0	0	0	4967	652	23	2	780	2	EGFR	7	55221710	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	3934096	55221710	103916953	22	2433											
EGFR	1956	broad.mit.edu	37	chr7	55268101	55268101	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccccagcgctaccttgtcAttcaggtacaaattgcagtc	10	10	7	14	1	2	0	2	0	0	0	3	0	2	0	3	1	4	3	3	1	3	5			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr7:55268101A>T	uc003tqk.3	+	23	3187	c.2941A>T	c.(2941-2943)Att>Ttt	p.I981F	EGFR_uc022adm.1_Missense_Mutation_p.I981F|EGFR_uc010kzg.2_Missense_Mutation_p.I936F|EGFR_uc022adn.1_Missense_Mutation_p.I936F|EGFR_uc011kco.2_Missense_Mutation_p.I928F	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	981					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CTACCTTGTCATTCAGGTACA	0.517		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			25	1274					0	0	1	0	0	T	55268101	A	T	55268101	3	4	58	1	0	0	0	0	1	0	0	0	4967	217	8	5	3299	5	EGFR	7	55268101	Missense_Mutation	SNP	A	TCGA-DU-5852-01A-11D-1705-08	46391	55268101	103870562	23	2434											
AUTS2	26053	broad.mit.edu	37	chr7	70231260	70231260	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacgcaccagcacaccttCacgccgttcccccacgccat	9	5	5	22	4	1	0	1	0	0	0	2	0	2	0	6	0	1	3	6	0	0	2			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr7:70231260C>A	uc003tvw.4	+	8	2364	c.1629C>A	c.(1627-1629)ttC>ttA	p.F543L	AUTS2_uc003tvx.4_Missense_Mutation_p.F543L|AUTS2_uc011keg.2_5'UTR	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	543	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		agcacacCTTCACGCCGTTCC	0.657													15	17					0.000422831	0.000435029	1	1	0	A	70231260	C	A	70231260	3	1	58	1	0	0	0	0	1	0	0	0	1225	825	29	5	1808	5	AUTS2	7	70231260	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	14963159	70231260	88907403	24	2435											
STAG3	10734	broad.mit.edu	37	chr7	99795727	99795727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggaccggatggtttccatGgtcatggacagagagtatga	11	9	14	7	1	1	2	1	1	0	1	2	6	2	5	2	5	0	2	2	5	1	2			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr7:99795727G>A	uc003utx.1	+	11	1337	c.1182G>A	c.(1180-1182)atG>atA	p.M394I	STAG3_uc010lgs.1_Missense_Mutation_p.M182I|STAG3_uc011kjk.1_Missense_Mutation_p.M336I|STAG3_uc003uub.1_5'Flank	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	Homo sapiens stromal antigen 3 (STAG3), mRNA.	394	SCD.				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGTTTCCATGGTCATGGACA	0.463													22	49					0	0	1	0	0	A	99795727	G	A	99795727	3	1	58	1	0	0	0	0	1	0	0	0	15243	1348	47	3	1224	3	STAG3	7	99795727	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	29564467	99795727	59342936	25	2436											
CUL1	8454	broad.mit.edu	37	chr7	148451085	148451085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtcatgtttataactactGtactagtgttcaccagtcaa	13	14	6	8	0	3	0	3	0	0	0	3	0	3	0	1	0	3	3	1	0	7	7			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr7:148451085G>A	uc010lpg.3	+	2	684	c.158G>A	c.(157-159)tGt>tAt	p.C53Y	CUL1_uc003wey.3_Missense_Mutation_p.C53Y|CUL1_uc003wez.3_5'UTR	NM_003592	NP_003583	Q13616	CUL1_HUMAN	Homo sapiens cullin 1 (CUL1), mRNA.	53					G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination	SCF ubiquitin ligase complex|cytosol|nucleoplasm	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TATAACTACTGTACTAGTGTT	0.403													12	22					0	0	1	0	0	A	148451085	G	A	148451085	3	1	58	1	0	0	0	0	1	0	0	0	4054	1377	48	3	164	3	CUL1	7	148451085	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	48655358	148451085	10687578	26	2437											
MLL3	58508	broad.mit.edu	37	chr7	151945288	151945288	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttcacacaaccctcaattGtaggagtcatttcagagtcc	11	12	6	12	0	4	1	4	0	0	1	5	2	5	2	2	1	1	1	2	1	3	4			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr7:151945288G>T	uc003wla.3	-	13	2450	c.2231C>A	c.(2230-2232)aCa>aAa	p.T744K		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	744					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ACCCTCAATTGTAGGAGTCAT	0.383			N		medulloblastoma								5	169					1.23904e-05	1.28716e-05	1	1	0	T	151945288	G	T	151945288	3	4	58	1	0	0	0	0	1	0	0	0	9622	1377	48	5	12688	5	MLL3	7	151945288	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	3494203	151945288	7193375	27	2438											
LETM2	137994	broad.mit.edu	37	chr8	38250441	38250441	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctacttactttggattgaCgccaaagttgctgccagaat	10	14	8	9	1	1	2	0	1	1	1	1	3	1	3	2	1	4	2	2	1	4	6			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr8:38250441C>T	uc003xlm.2	+	2	520	c.288C>T	c.(286-288)gaC>gaT	p.D96D	LETM2_uc003xlk.3_Silent_p.D143D|LETM2_uc011lbn.2_5'UTR|LETM2_uc003xll.2_Silent_p.D96D|LETM2_uc003xln.2_5'UTR|LETM2_uc003xlo.2_5'UTR	NM_001199659	NP_001186588	Q2VYF4	LETM2_HUMAN	Homo sapiens leucine zipper-EF-hand containing transmembrane protein 2 (LETM2), transcript variant 1, mRNA.	143						integral to membrane|mitochondrial inner membrane				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			TTTGGATTGACGCCAAAGTTG	0.393													21	43					0	0	1	0	0	T	38250441	C	T	38250441	2	4	58	1	0	0	0	0	0	0	0	1	8735	535	19	1		1	LETM2	8	38250441	Silent	SNP	C	TCGA-DU-5852-01A-11D-1705-08		38250441	108113581	28	2439											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885200	88885200	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattctcgtgtagcagtcctGgcccacggccgccacgactc	6	8	11	16	4	1	0	0	0	1	0	4	2	2	0	4	2	1	2	4	2	1	2			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr8:88885200G>C	uc003ydz.3	-	0	1097	c.1000C>G	c.(1000-1002)Cag>Gag	p.Q334E		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	334										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TAGCAGTCCTGGCCCACGGCC	0.572													17	35					0	0	1	0	0	C	88885200	G	C	88885200	3	2	58	1	0	0	0	0	1	0	0	0	4272	1357	47	5	191	5	DCAF4L2	8	88885200	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	50634759	88885200	57478822	29	2440											
SLC45A4	57210	broad.mit.edu	37	chr8	142228890	142228890	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccgactgtacctcgtctggGaaggcagggacgccgtgcgg	6	7	16	12	5	1	0	0	0	1	0	3	3	2	2	3	4	2	2	3	4	2	1			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr8:142228890G>A	uc003ywd.1	-	3	1004	c.696C>T	c.(694-696)ttC>ttT	p.F232F	SLC45A4_uc003ywc.1_Silent_p.F232F|SLC45A4_uc010meq.1_Silent_p.F230F	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	283					transport	integral to membrane		p.A231V(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CCTCGTCTGGGAAGGCAGGGA	0.677													26	82					0	0	1	0	0	A	142228890	G	A	142228890	2	1	58	1	0	0	0	0	0	0	0	1	14643	1165	41	3		3	SLC45A4	8	142228890	Silent	SNP	G	TCGA-DU-5852-01A-11D-1705-08	53343690	142228890	4135132	30	2441											
SECISBP2	79048	broad.mit.edu	37	chr9	91954798	91954798	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatgccgaggaatttcccaAcctggcagttgcatctgaaa	11	9	11	10	1	1	1	0	1	1	0	2	4	2	3	3	3	3	3	3	3	3	2			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr9:91954798A>G	uc004aqj.1	+	8	1312	c.1232A>G	c.(1231-1233)aAc>aGc	p.N411S	SECISBP2_uc010mqo.1_Missense_Mutation_p.N116S|SECISBP2_uc004aqk.1_Missense_Mutation_p.N338S|SECISBP2_uc011ltk.1_Missense_Mutation_p.N410S|SECISBP2_uc011ltl.1_Missense_Mutation_p.N343S	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	Homo sapiens SECIS binding protein 2 (SECISBP2), mRNA.	411					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						GAATTTCCCAACCTGGCAGTT	0.398													12	78					0	0	1	0	0	G	91954798	A	G	91954798	3	3	58	1	0	0	0	0	1	0	0	0	14006	43	2	3	1266	3	SECISBP2	9	91954798	Missense_Mutation	SNP	A	TCGA-DU-5852-01A-11D-1705-08		91954798	49258633	31	2442											
YME1L1	10730	broad.mit.edu	37	chr10	27411836	27411836	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcattggagattcaattCtcttcccaccaacagaatct	12	12	6	11	0	3	2	1	0	2	2	5	4	4	2	2	1	2	1	2	1	3	4			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr10:27411836C>A	uc001iti.3	-	11	1550	c.1340G>T	c.(1339-1341)aGa>aTa	p.R447I	YME1L1_uc001itj.3_Missense_Mutation_p.R390I|YME1L1_uc010qdl.2_Missense_Mutation_p.R357I	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	Homo sapiens YME1-like 1 (S. cerevisiae) (YME1L1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	447					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	p.R447I(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						AGATTCAATTCTCTTCCCACC	0.348													29	22					5.77227e-19	6.23872e-19	1	1	0	A	27411836	C	A	27411836	3	1	58	1	0	0	0	0	1	0	0	0	17484	913	32	5	1017	5	YME1L1	10	27411836	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08		27411836	108122911	32	2443											
RET	5979	broad.mit.edu	37	chr10	43595972	43595972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtatgtggaccaggcagccGgcacgcccttgctgtacgtc	6	9	13	13	3	0	0	0	0	0	0	1	1	0	1	3	3	3	5	3	3	2	3			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr10:43595972G>A	uc001jal.3	+	1	329	c.139G>A	c.(139-141)Ggc>Agc	p.G47S	RET_uc001jak.1_Missense_Mutation_p.G47S	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	47					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CCAGGCAGCCGGCACGCCCTT	0.627		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				26	7					0	0	1	0	0	A	43595972	G	A	43595972	3	1	58	1	0	0	0	0	1	0	0	0	13235	1116	39	2	145	2	RET	10	43595972	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	16184136	43595972	91938775	33	2444											
C10orf71	118461	broad.mit.edu	37	chr10	50531225	50531225	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcagaacagctaccagcCaggcaggaagcacggagaac	15	2	11	13	1	1	2	1	0	0	2	1	4	1	3	3	3	6	3	3	3	4	1			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr10:50531225C>T	uc021pqb.1	+	0	635	c.635C>T	c.(634-636)cCa>cTa	p.P212L	C10orf71_uc021pqa.1_Missense_Mutation_p.P211L|C10orf71_uc021pqc.1_Missense_Mutation_p.P212L	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	212										endometrium(1)	1						AGCTACCAGCCAGGCAGGAAG	0.547													5	10					0	0	1	0	0	T	50531225	C	T	50531225	3	4	58	1	0	0	0	0	1	0	0	0	1614	594	21	3	637	3	C10orf71	10	50531225	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	6935253	50531225	85003522	34	2445											
COL17A1	1308	broad.mit.edu	37	chr10	105803313	105803313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggaggtcctggggggcCtgggacagtgagcatcgatg	7	7	18	9	1	0	1	0	1	0	0	3	4	2	3	3	6	1	1	3	6	0	0			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr10:105803313C>T	uc001kxr.3	-	34	2630	c.2461G>A	c.(2461-2463)Ggc>Agc	p.G821S		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	821	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCTGGGGGGCCTGGGACAGTG	0.572													20	7					0	0	1	0	0	T	105803313	C	T	105803313	3	4	58	1	0	0	0	0	1	0	0	0	3674	681	24	3	2120	3	COL17A1	10	105803313	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	55272088	105803313	29731434	35	2446											
MUC5B	727897	broad.mit.edu	37	chr11	1268697	1268697	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttctccagggacgaccacCccgggccacaccaggggcac	8	3	11	19	2	1	0	0	0	1	0	2	2	1	1	7	4	0	1	7	4	0	1			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:1268697C>T	uc001lta.3	+	30	10646	c.10587C>T	c.(10585-10587)acC>acT	p.T3529T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3529	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.T3529P(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGACGACCACCCCGGGCCACA	0.687													22	43					0	0	1	0	0	T	1268697	C	T	1268697	2	4	58	1	0	0	0	0	0	0	0	1	9979	610	22	3		3	MUC5B	11	1268697	Silent	SNP	C	TCGA-DU-5852-01A-11D-1705-08		1268697	133737819	36	2447											
OR51A4	401666	broad.mit.edu	37	chr11	4967723	4967723	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccataaggcagagtgctccaAaaaagccatagataacatca	18	6	7	10	0	1	2	1	0	0	2	2	2	2	2	3	1	3	2	3	1	6	3			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:4967723A>G	uc010qys.2	-	0	608	c.608T>C	c.(607-609)tTt>tCt	p.F203S		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGTGCTCCAAAAAAGCCATA	0.418													23	56					0	0	1	0	0	G	4967723	A	G	4967723	3	3	58	1	0	0	0	0	1	0	0	0	11087	14	1	3	335	3	OR51A4	11	4967723	Missense_Mutation	SNP	A	TCGA-DU-5852-01A-11D-1705-08	3699026	4967723	130038793	37	2448											
POLR2G	5436	broad.mit.edu	37	chr11	62530370	62530370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taattgctgtcaccaccattGacaatattggtgctggtgtg	9	14	10	8	0	1	1	1	1	0	0	1	1	1	1	2	2	2	2	2	2	3	5			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:62530370G>A	uc001nva.3	+	2	264	c.154G>A	c.(154-156)Gac>Aac	p.D52N		NM_002696	NP_002687	P62487	RPB7_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide G (POLR2G), mRNA.	52					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|RNA binding|protein binding			lung(3)	3						CACCACCATTGACAATATTGG	0.468													33	63					0	0	1	0	0	A	62530370	G	A	62530370	3	1	58	1	0	0	0	0	1	0	0	0	12220	1290	45	3	164	3	POLR2G	11	62530370	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	57562647	62530370	72476146	38	2449											
SLC22A10	387775	broad.mit.edu	37	chr11	63064782	63064782	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgtttctcaggtttgggCgaagatttattctcagatgg	7	15	12	7	2	2	2	2	0	2	2	4	3	2	2	0	3	0	3	0	3	2	5	rs111381363		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:63064782C>T	uc009yor.3	+	2	722	c.514C>T	c.(514-516)Cga>Tga	p.R172*	SLC22A10_uc010rmo.1_Non-coding_Transcript|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Intron	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	172						integral to membrane	transmembrane transporter activity	p.G171W(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CAGGTTTGGGCGAAGATTTAT	0.398													38	58					0	0	1	0	0	T	63064782	C	T	63064782	4	4	58	1	0	0	0	0	0	1	0	0	14441	760	27	1	524	1	SLC22A10	11	63064782	Nonsense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	534412	63064782	71941734	39	2450											
GAB2	9846	broad.mit.edu	37	chr11	77931439	77931439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgccggtgctcttcttagGggcaggactgttcgtgccac	4	11	14	12	2	2	0	0	0	2	0	3	1	2	1	2	4	3	4	2	4	1	3			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:77931439G>A	uc001ozh.3	-	8	1915	c.1813C>T	c.(1813-1815)Cct>Tct	p.P605S	GAB2_uc001ozg.3_Missense_Mutation_p.P567S	NM_080491	NP_036428	Q9UQC2	GAB2_HUMAN	Homo sapiens GRB2-associated binding protein 2 (GAB2), transcript variant 1, mRNA.	605					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CTCTTCTTAGGGGCAGGACTG	0.577													26	37					0	0	1	0	0	A	77931439	G	A	77931439	3	1	58	1	0	0	0	0	1	0	0	0	6149	1232	43	3	225	3	GAB2	11	77931439	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	14866657	77931439	57075077	40	2451											
HTR3A	3359	broad.mit.edu	37	chr11	113860240	113860240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccaggacttcgagaagagcCcgagggacagatgtagccct	11	5	13	12	2	0	3	0	0	0	3	1	7	0	5	3	2	2	1	3	2	2	2			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:113860240C>T	uc010rxb.2	+	7	1539	c.1306C>T	c.(1306-1308)Ccg>Tcg	p.P436S	HTR3A_uc010rxa.2_Missense_Mutation_p.P404S|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Missense_Mutation_p.P383S	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	398	HA-stretch.				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	p.S435I(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CGAGAAGAGCCCGAGGGACAG	0.637													38	54					0	0	1	0	0	T	113860240	C	T	113860240	3	4	58	1	0	0	0	0	1	0	0	0	7444	623	22	3	1362	3	HTR3A	11	113860240	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	35928801	113860240	21146276	41	2452											
OR6M1	390261	broad.mit.edu	37	chr11	123676254	123676254	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggacagcggccaccttGtcataatccagtgaggagtt	11	9	12	9	1	1	2	1	2	0	0	2	4	2	4	3	3	1	1	3	3	1	3			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:123676254G>C	uc010rzz.2	-	0	804	c.804C>G	c.(802-804)gaC>gaG	p.D268E		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CGGCCACCTTGTCATAATCCA	0.488													29	54					0	0	1	0	0	C	123676254	G	C	123676254	3	2	58	1	0	0	0	0	1	0	0	0	11205	1368	48	5	140	5	OR6M1	11	123676254	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	9816014	123676254	11330262	42	2453											
GDF3	9573	broad.mit.edu	37	chr12	7843233	7843233	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctttctttgatggcagacagGttaaagtagaggagcttctg	10	13	12	6	0	2	3	0	1	2	2	2	4	2	4	0	3	1	4	0	3	3	5			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr12:7843233G>A	uc001qte.3	-	1	372	c.336C>T	c.(334-336)aaC>aaT	p.N112N		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	Homo sapiens growth differentiation factor 3 (GDF3), mRNA.	112					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TGGCAGACAGGTTAAAGTAGA	0.478													18	42					0	0	1	0	0	A	7843233	G	A	7843233	2	1	58	1	0	0	0	0	0	0	0	1	6315	1252	44	3		3	GDF3	12	7843233	Silent	SNP	G	TCGA-DU-5852-01A-11D-1705-08		7843233	126008662	43	2454											
DPPA3	359787	broad.mit.edu	37	chr12	7867929	7867929	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggaaatcgaagatgagtGgctttacagcaggagaggag	14	6	16	5	1	0	3	0	1	0	2	1	7	0	5	0	4	2	2	0	4	3	2			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr12:7867929G>A	uc001qtf.3	+	1	311	c.233G>A	c.(232-234)tGg>tAg	p.W78*		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	78						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		GAAGATGAGTGGCTTTACAGC	0.478													13	24					0	0	1	0	0	A	7867929	G	A	7867929	4	1	58	1	0	0	0	0	0	1	0	0	4735	1357	47	3	239	3	DPPA3	12	7867929	Nonsense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	24696	7867929	125983966	44	2455											
STAT6	6778	broad.mit.edu	37	chr12	57501513	57501513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagaaggcgtcggagcCgaccaggaactccctgcagg	10	3	15	13	3	0	1	0	0	0	1	2	4	1	3	3	4	4	3	3	4	2	0			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr12:57501513C>T	uc009zpg.3	-	2	279	c.277G>A	c.(277-279)Ggc>Agc	p.G93S	STAT6_uc009zpe.3_Missense_Mutation_p.G44S|STAT6_uc001sna.3_Missense_Mutation_p.G44S|STAT6_uc009zpf.3_Missense_Mutation_p.G44S|STAT6_uc010srb.2_5'UTR|STAT6_uc010src.2_Intron|STAT6_uc010srd.2_Intron	NM_001178081	NP_001171552	P42226	STAT6_HUMAN	Homo sapiens signal transducer and activator of transcription 6, interleukin-4 induced (STAT6), transcript variant 5, mRNA.	44					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	DNA binding|calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.G44S(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GCGTCGGAGCCGACCAGGAAC	0.602													11	29					0	0	1	0	0	T	57501513	C	T	57501513	3	4	58	1	0	0	0	0	1	0	0	0	15269	652	23	2	2493	2	STAT6	12	57501513	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	49633584	57501513	76350382	45	2456											
YLPM1	56252	broad.mit.edu	37	chr14	75230628	75230628	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccaatggagctggaatccCcccctgaatctccccctgtg	7	10	8	16	0	1	1	0	1	1	0	4	3	3	3	6	2	1	1	6	2	3	1			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr14:75230628C>A	uc001xqj.4	+	0	560	c.436C>A	c.(436-438)Ccc>Acc	p.P146T		NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	146	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GCTGGAATCCCCCCCTGAATC	0.612													3	10					1	1	1	1	0	A	75230628	C	A	75230628	3	1	58	1	0	0	0	0	1	0	0	0	17483	623	22	5	438	5	YLPM1	14	75230628	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08		75230628	32118912	46	2457											
UBL7	84993	broad.mit.edu	37	chr15	74751068	74751068	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcctggagtttgccagcAataagctgcttcagaaatga	12	10	10	9	0	1	2	1	1	0	1	2	4	2	3	2	1	4	4	2	1	3	3			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr15:74751068A>G	uc002axw.1	-	1	303	c.141T>C	c.(139-141)atT>atC	p.I47I	UBL7_uc002axx.1_Silent_p.I87I|UBL7_uc002axy.1_Silent_p.I47I|UBL7_uc002axz.1_Silent_p.I47I|LOC440288_uc002ayb.3_5'Flank|LOC440288_uc002aya.3_5'Flank	NM_032907	NP_957717	Q96S82	UBL7_HUMAN	Homo sapiens ubiquitin-like 7 (bone marrow stromal cell-derived) (UBL7), transcript variant 1, mRNA.	47	Ubiquitin-like.						protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GTTTGCCAGCAATAAGCTGCT	0.502													8	125					0	0	1	0	0	G	74751068	A	G	74751068	2	3	58	1	0	0	0	0	0	0	0	1	16887	126	5	3		3	UBL7	15	74751068	Silent	SNP	A	TCGA-DU-5852-01A-11D-1705-08		74751068	27780324	47	2458											
KIAA1199	57214	broad.mit.edu	37	chr15	81181824	81181824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctagacgtggagtggaCggagtggttcgatcatgata	9	10	15	7	3	1	2	1	1	0	1	2	6	1	5	1	4	1	1	1	4	2	3			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr15:81181824C>T	uc002bfw.1	+	8	1237	c.977C>T	c.(976-978)aCg>aTg	p.T326M	KIAA1199_uc010unn.1_Missense_Mutation_p.T326M	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	326								p.T326M(2)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GTGGAGTGGACGGAGTGGTTC	0.483													23	47					0	0	1	0	0	T	81181824	C	T	81181824	3	4	58	1	0	0	0	0	1	0	0	0	8213	536	19	1	1007	1	KIAA1199	15	81181824	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	6430756	81181824	21349568	48	2459											
SLCO3A1	28232	broad.mit.edu	37	chr15	92706193	92706193	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgaggaaaaactataaacGctacatcaaaaaccacgagg	19	5	7	10	2	1	1	1	1	0	0	1	3	1	2	2	2	4	1	2	2	8	3			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr15:92706193G>A	uc002bqx.2	+	9	2162	c.1961G>A	c.(1960-1962)cGc>cAc	p.R654H	SLCO3A1_uc002bqy.2_Missense_Mutation_p.R654H|SLCO3A1_uc002bqz.1_Missense_Mutation_p.R596H	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	654					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	p.R654H(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			AACTATAAACGCTACATCAAA	0.547													26	36					0	0	1	0	0	A	92706193	G	A	92706193	3	1	58	1	0	0	0	0	1	0	0	0	14728	1087	38	1	1999	1	SLCO3A1	15	92706193	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	11524369	92706193	9825199	49	2460											
SLC12A3	6559	broad.mit.edu	37	chr16	56928468	56928468	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accctcctcattccctatctCcttggccgcaagaggaggtg	7	10	9	15	1	2	1	1	0	1	1	5	2	4	2	5	3	0	1	5	3	2	3			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr16:56928468C>T	uc002ekd.4	+	21	2603	c.2574C>T	c.(2572-2574)ctC>ctT	p.L858L	SLC12A3_uc010ccm.3_Silent_p.L849L|SLC12A3_uc010ccn.3_Silent_p.L857L	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	849					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TTCCCTATCTCCTTGGCCGCA	0.557													7	9					0	0	1	0	0	T	56928468	C	T	56928468	2	4	58	1	0	0	0	0	0	0	0	1	14384	842	30	3		3	SLC12A3	16	56928468	Silent	SNP	C	TCGA-DU-5852-01A-11D-1705-08		56928468	33426285	50	2461											
NUDT7	283927	broad.mit.edu	37	chr16	77775636	77775636	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtcacacgtcttggtcaccGttttattaatcatatctttg	8	17	6	10	3	5	0	3	0	2	0	5	0	5	0	1	1	0	1	1	1	3	6	rs35294368		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr16:77775636G>A	uc010chd.3	+	3	597	c.506G>A	c.(505-507)cGt>cAt	p.R169H	NUDT7_uc021tlp.1_3'UTR|NUDT7_uc021tlq.1_Missense_Mutation_p.R154H|NUDT7_uc010vnj.2_Missense_Mutation_p.R116H	NM_001105663	NP_001099133	P0C024	NUDT7_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 7 (NUDT7), transcript variant 1, mRNA.	169	Nudix hydrolase.				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						CTTGGTCACCGTTTTATTAAT	0.473													24	38					0	0	1	0	0	A	77775636	G	A	77775636	3	1	58	1	0	0	0	0	1	0	0	0	10744	1145	40	1	520	1	NUDT7	16	77775636	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	20847168	77775636	12579117	51	2462											
CDH13	1012	broad.mit.edu	37	chr16	83250986	83250986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagaaaggtccaagttcCggctcactggaaagggagtg	11	6	15	9	1	1	1	1	0	0	1	3	3	3	3	3	5	0	2	3	5	3	1			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr16:83250986C>T	uc010vns.2	+	5	925	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	CDH13_uc002fgx.3_Missense_Mutation_p.R174W|CDH13_uc010vnt.2_5'UTR|CDH13_uc010vnu.2_Missense_Mutation_p.R135W	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	174	Cadherin 1.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GTCCAAGTTCCGGCTCACTGG	0.463													23	32					0	0	1	0	0	T	83250986	C	T	83250986	3	4	58	1	0	0	0	0	1	0	0	0	3099	643	23	2	538	2	CDH13	16	83250986	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	5475350	83250986	7103767	52	2463											
OVCA2	124641	broad.mit.edu	37	chr17	1946242	1946242	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccttcgctccatgtttttggGgacactgacaaagtcatccc	8	12	8	13	1	1	1	1	1	0	0	4	2	3	2	3	2	0	2	3	2	1	3			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr17:1946242G>A	uc002ftx.3	+	1	593	c.528G>A	c.(526-528)ggG>ggA	p.G176G	DPH1_uc002fts.3_3'UTR|DPH1_uc002ftt.3_3'UTR|DPH1_uc010cjx.3_3'UTR|DPH1_uc010vqs.2_3'UTR|DPH1_uc002ftv.3_3'UTR|DPH1_uc002ftw.3_3'UTR	NM_080822	NP_543012	Q8WZ82	OVCA2_HUMAN	Homo sapiens ovarian tumor suppressor candidate 2 (OVCA2), mRNA.	176					response to retinoic acid	cytoplasm	hydrolase activity										ATGTTTTTGGGGACACTGACA	0.547											OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	46					0	0	1	0	0	A	1946242	G	A	1946242	2	1	58	1	0	0	0	0	0	0	0	1	11322	1219	43	3		3	OVCA2	17	1946242	Silent	SNP	G	TCGA-DU-5852-01A-11D-1705-08		1946242	79248968	53	2464											
RANGRF	29098	broad.mit.edu	37	chr17	8192897	8192897	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatctcttgcttaccttcaAtcagcccccgtaaggaggaa	10	11	8	12	1	3	1	2	1	1	0	4	3	3	3	3	2	3	2	3	2	4	4			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr17:8192897A>G	uc002gkv.3	+	3	566	c.428A>G	c.(427-429)aAt>aGt	p.N143S	SLC25A35_uc002gkt.3_3'UTR|SLC25A35_uc002gku.1_3'UTR|RANGRF_uc002gky.3_3'UTR|RANGRF_uc002gkx.3_Missense_Mutation_p.N143S|RANGRF_uc002gkw.3_Intron|SLC25A35_uc002gkz.1_Non-coding_Transcript	NM_016492	NP_057576	Q9HD47	MOG1_HUMAN	Homo sapiens RAN guanine nucleotide release factor (RANGRF), transcript variant 1, mRNA.	143					protein transport	cytoplasm|nucleus	guanyl-nucleotide exchange factor activity			endometrium(1)	1						CTTACCTTCAATCAGCCCCCG	0.567													17	36					0	0	1	0	0	G	8192897	A	G	8192897	3	3	58	1	0	0	0	0	1	0	0	0	13034	101	4	3	526	3	RANGRF	17	8192897	Missense_Mutation	SNP	A	TCGA-DU-5852-01A-11D-1705-08	6246655	8192897	73002313	54	2465											
MYOCD	93649	broad.mit.edu	37	chr17	12656007	12656007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcctctgacctgtcagtcGctgggtccctgccggacacc	4	9	10	18	2	2	1	1	1	1	0	5	2	4	2	6	2	1	1	6	2	0	0			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr17:12656007G>A	uc002gno.2	+	9	1701	c.1402G>A	c.(1402-1404)Gct>Act	p.A468T	MYOCD_uc002gnn.2_Missense_Mutation_p.A468T|MYOCD_uc002gnp.1_Missense_Mutation_p.A372T|MYOCD_uc002gnq.2_Missense_Mutation_p.A187T	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	468	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding	p.A468T(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCTGTCAGTCGCTGGGTCCCT	0.627													23	44					0	0	1	0	0	A	12656007	G	A	12656007	3	1	58	1	0	0	0	0	1	0	0	0	10087	1087	38	1	1440	1	MYOCD	17	12656007	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	4463110	12656007	68539203	55	2466											
SREBF1	6720	broad.mit.edu	37	chr17	17721591	17721591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcttttgtggacagcaGtgcgcagacttaggttctcc	7	12	11	11	1	1	1	0	0	1	1	2	2	1	2	1	2	3	4	1	2	1	4			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr17:17721591G>A	uc002gru.2	-	5	1360	c.1166C>T	c.(1165-1167)aCt>aTt	p.T389I	SREBF1_uc002grp.2_5'UTR|SREBF1_uc002grq.2_5'UTR|SREBF1_uc002grr.2_Missense_Mutation_p.T135I|SREBF1_uc002grs.2_Missense_Mutation_p.T365I|SREBF1_uc002grt.2_Missense_Mutation_p.T419I|SREBF1_uc010cpp.1_Missense_Mutation_p.T365I|SREBF1_uc010cpq.1_Missense_Mutation_p.T389I	NM_004176	NP_004167	P36956	SRBP1_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 1 (SREBF1), transcript variant 2, mRNA.	389	Interaction with LMNA (By similarity).|Leucine-zipper.				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GTGGACAGCAGTGCGCAGACT	0.547													13	52					0	0	1	0	0	A	17721591	G	A	17721591	3	1	58	1	0	0	0	0	1	0	0	0	15140	1029	36	3	2333	3	SREBF1	17	17721591	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	5065584	17721591	63473619	56	2467											
FAM83G	644815	broad.mit.edu	37	chr17	18881610	18881610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccacagctggtgctgggCgctggcctgggaggtgtcac	4	9	16	12	1	1	0	1	0	0	0	2	1	2	1	2	5	2	3	2	5	0	1			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr17:18881610C>T	uc002guw.3	-	4	1536	c.1369G>A	c.(1369-1371)Gcc>Acc	p.A457T	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA.	457										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TGGTGCTGGGCGCTGGCCTGG	0.642													7	10					0	0	1	0	0	T	18881610	C	T	18881610	3	4	58	1	0	0	0	0	1	0	0	0	5639	768	27	1	1110	1	FAM83G	17	18881610	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	1160019	18881610	62313600	57	2468											
LAMA3	3909	broad.mit.edu	37	chr18	21402283	21402283	+	Missense_Mutation	SNP	A	A	T																															gtttcgtgttattctgagatAcgttaaccctggaactgaag																										TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr18:21402283A>T	uc002kuq.3	+	19	2458	c.2372A>T	c.(2371-2373)tAc>tTc	p.Y791F	LAMA3_uc002kur.3_Missense_Mutation_p.Y791F	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	791					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATTCTGAGATACGTTAACCCT	0.383													24	59					0	0	1	0	0	T	21402283	A	T	21402283	3	4	58	1	0	0	0	0	1	0	0	0	8607	391	14	5	2450	5	LAMA3	18	21402283	Missense_Mutation	SNP	A	TCGA-DU-5852-01A-11D-1705-08		21402283	56674965	58	2469	9	2									
LAMA3	3909	broad.mit.edu	37	chr18	21402284	21402284	+	Silent	SNP	C	C	T																															tttcgtgttattctgagataCgttaaccctggaactgaagc																										TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr18:21402284C>T	uc002kuq.3	+	19	2459	c.2373C>T	c.(2371-2373)taC>taT	p.Y791Y	LAMA3_uc002kur.3_Silent_p.Y791Y	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	791					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCTGAGATACGTTAACCCTG	0.383													25	59					0	0	1	0	0	T	21402284	C	T	21402284	2	4	58	1	0	0	0	0	0	0	0	1	8607	547	19	1		1	LAMA3	18	21402284	Silent	SNP	C	TCGA-DU-5852-01A-11D-1705-08	1	21402284	56674964	59	2470	9	2									
USE1	55850	broad.mit.edu	37	chr19	17327047	17327047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtgccaaccacagccagaGagcgagtgcccgccacaaag	12	3	12	14	2	0	1	0	0	0	1	0	3	0	1	5	0	5	0	5	0	2	0			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr19:17327047G>A	uc002nfo.2	+	3	361	c.301G>A	c.(301-303)Gag>Aag	p.E101K	USE1_uc002nfn.2_Missense_Mutation_p.E101K|USE1_uc010eal.1_Missense_Mutation_p.E101K	NM_018467	NP_060937	Q9NZ43	USE1_HUMAN	Homo sapiens unconventional SNARE in the ER 1 homolog (S. cerevisiae) (USE1), mRNA.	101					lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|endometrium(1)|lung(3)	6						CACAGCCAGAGAGCGAGTGCC	0.607													16	20					0	0	1	0	0	A	17327047	G	A	17327047	3	1	58	1	0	0	0	0	1	0	0	0	17028	943	33	3	315	3	USE1	19	17327047	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08		17327047	41801936	60	2471											
LRRC4B	94030	broad.mit.edu	37	chr19	51020955	51020955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggttgctgctgtagtgcGccttgaaggcggcagccacg	5	9	17	10	3	0	1	0	1	0	0	0	1	0	1	2	4	4	5	2	4	2	3			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr19:51020955G>A	uc002pss.3	-	2	2152	c.2015C>T	c.(2014-2016)gCg>gTg	p.A672V		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	672						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCTGTAGTGCGCCTTGAAGGC	0.692													6	9					0	0	1	0	0	A	51020955	G	A	51020955	3	1	58	1	0	0	0	0	1	0	0	0	9007	1087	38	1	130	1	LRRC4B	19	51020955	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	33693908	51020955	8108028	61	2472											
KLK1	3816	broad.mit.edu	37	chr19	51323240	51323240	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgggcttttttgcactcaTcattaggcaggattttgagg	7	15	12	7	1	2	1	2	1	0	0	2	2	2	2	0	4	1	3	0	4	1	6			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr19:51323240T>G	uc002ptk.1	-	3	587	c.548A>C	c.(547-549)gAt>gCt	p.D183A	KLK1_uc010ycg.1_Non-coding_Transcript	NM_002257	NP_002248	P06870	KLK1_HUMAN	Homo sapiens kallikrein 1 (KLK1), mRNA.	183	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTGCACTCATCATTAGGCAG	0.547													12	30					0	0	1	0	0	G	51323240	T	G	51323240	3	3	58	1	0	0	0	0	1	0	0	0	8397	1435	50	5	248	5	KLK1	19	51323240	Missense_Mutation	SNP	T	TCGA-DU-5852-01A-11D-1705-08	302285	51323240	7805743	62	2473											
KLK15	55554	broad.mit.edu	37	chr19	51330300	51330300	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcgcagcaacatgatgtcGttgcggtggctgcgcgcttc	6	9	15	11	5	0	1	0	1	0	0	2	1	0	1	0	3	4	5	0	3	1	2			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr19:51330300G>A	uc002ptl.3	-	2	346	c.315C>T	c.(313-315)aaC>aaT	p.N105N	KLK15_uc002ptm.3_Silent_p.N105N|KLK15_uc002ptn.3_Silent_p.N105N|KLK15_uc002pto.3_Silent_p.N104N|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_Silent_p.N104N|KLK15_uc010eod.3_Non-coding_Transcript	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.	105	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		ACATGATGTCGTTGCGGTGGC	0.687													36	43					0	0	1	0	0	A	51330300	G	A	51330300	2	1	58	1	0	0	0	0	0	0	0	1	8403	1136	40	1		1	KLK15	19	51330300	Silent	SNP	G	TCGA-DU-5852-01A-11D-1705-08	7060	51330300	7798683	63	2474											
LILRA1	11024	broad.mit.edu	37	chr19	55086781	55086781	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctatggtggcccccggggaGagcctgaccctccagtgtgt	5	8	14	14	1	0	2	0	1	0	1	1	3	1	2	6	4	1	0	6	4	1	1	rs144206436		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr19:55086781G>A	uc010ern.3	+	5	1183	c.714G>A	c.(712-714)gaG>gaA	p.E238E	LILRA1_uc002qgg.4_Silent_p.E238E|LILRA1_uc002qgf.3_Silent_p.E238E|LILRA1_uc010yfe.1_Silent_p.E238E|LILRA1_uc010yff.1_Silent_p.E226E|LILRA1_uc010ero.3_Silent_p.E226E|LILRA1_uc010yfg.1_Intron			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	240	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCCCCGGGGAGAGCCTGACCC	0.577													33	52					0	0	1	0	0	A	55086781	G	A	55086781	2	1	58	1	0	0	0	0	0	0	0	1	8784	933	33	3		3	LILRA1	19	55086781	Silent	SNP	G	TCGA-DU-5852-01A-11D-1705-08	3756481	55086781	4042202	64	2475											
PTPRH	5794	broad.mit.edu	37	chr19	55713502	55713502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaacacatacaaacaccCgggttcaagtctatccacgg	15	6	8	12	2	2	0	1	0	1	0	3	1	3	1	2	3	3	1	2	3	6	3	rs147691392	byFrequency	TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr19:55713502C>T	uc002qjq.3	-	5	1148	c.1075G>A	c.(1075-1077)Ggg>Agg	p.G359R	PTPRH_uc010esv.3_Missense_Mutation_p.G181R|PTPRH_uc002qjs.2_Missense_Mutation_p.G366R	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	359	Fibronectin type-III 4.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TACAAACACCCGGGTTCAAGT	0.542													45	61					0	0	1	0	0	T	55713502	C	T	55713502	3	4	58	1	0	0	0	0	1	0	0	0	12803	652	23	2	2332	2	PTPRH	19	55713502	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	626721	55713502	3415481	65	2476											
PROKR2	128674	broad.mit.edu	37	chr20	5283062	5283062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcttgcgaatctgctccGtctggaacccagggactgcc	6	8	12	15	3	2	0	0	0	2	0	3	3	3	2	4	2	4	2	4	2	2	1			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr20:5283062G>A	uc010zqw.2	-	1	787	c.779C>T	c.(778-780)aCg>aTg	p.T260M	PROKR2_uc010zqx.2_Missense_Mutation_p.T260M|PROKR2_uc010zqy.2_Missense_Mutation_p.T260M	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	260						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AATCTGCTCCGTCTGGAACCC	0.607										HNSCC(71;0.22)			5	22					0	0	1	0	0	A	5283062	G	A	5283062	3	1	58	1	0	0	0	0	1	0	0	0	12553	1145	40	1	378	1	PROKR2	20	5283062	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08		5283062	57742458	66	2477											
SLC24A3	57419	broad.mit.edu	37	chr20	19701644	19701644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccctgcaggtgttcggcGtccacctgaacaagtggcag	7	8	14	12	2	0	1	0	1	0	0	2	1	1	1	3	3	3	3	3	3	2	1			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr20:19701644G>A	uc002wrl.3	+	16	1992	c.1795G>A	c.(1795-1797)Gtc>Atc	p.V599I		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	599						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.G598G(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGTGTTCGGCGTCCACCTGAA	0.607													4	44					0	0	1	0	0	A	19701644	G	A	19701644	3	1	58	1	0	0	0	0	1	0	0	0	14467	1145	40	1	1861	1	SLC24A3	20	19701644	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	14418582	19701644	43323876	67	2478											
ITCH	83737	broad.mit.edu	37	chr20	33068913	33068913	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttggaaatgtacttctcCgttgacaaagaaattctagg	13	13	9	6	1	2	2	0	1	2	1	3	4	2	3	1	2	1	2	1	2	5	6			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr20:33068913C>T	uc010geu.1	+	20	2310	c.2118C>T	c.(2116-2118)tcC>tcT	p.S706S	ITCH_uc002xak.2_Silent_p.S665S|ITCH_uc010zuj.1_Silent_p.S555S	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	Homo sapiens itchy E3 ubiquitin protein ligase homolog (mouse) (ITCH), mRNA.	706	HECT.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TGTACTTCTCCGTTGACAAAG	0.313													33	68					0	0	1	0	0	T	33068913	C	T	33068913	2	4	58	1	0	0	0	0	0	0	0	1	7868	639	23	2		2	ITCH	20	33068913	Silent	SNP	C	TCGA-DU-5852-01A-11D-1705-08	13367269	33068913	29956607	68	2479											
PLCG1	5335	broad.mit.edu	37	chr20	39802384	39802384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctgcgcttcgtggtgtatGaggaagacatgtttagtgac	8	14	13	6	2	1	3	0	2	1	1	2	4	1	4	0	2	1	3	0	2	3	5			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr20:39802384G>A	uc002xjp.1	+	28	3608	c.3487G>A	c.(3487-3489)Gag>Aag	p.E1163K	PLCG1_uc002xjo.1_Missense_Mutation_p.E1163K|PLCG1_uc010zwe.1_Missense_Mutation_p.E828K	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	1163	C2.				T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CGTGGTGTATGAGGAAGACAT	0.517											OREG0025953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	106					0	0	1	0	0	A	39802384	G	A	39802384	3	1	58	1	0	0	0	0	1	0	0	0	12035	1291	45	3	3601	3	PLCG1	20	39802384	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	6733471	39802384	23223136	69	2480											
TTC3	7267	broad.mit.edu	37	chr21	38536430	38536430	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagaagaattcgaagctcTctatgaccaacacagtaacg	15	9	8	9	2	1	3	0	1	1	2	3	4	1	3	1	0	3	3	1	0	7	4			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr21:38536430T>G	uc002yvz.3	+	31	3353	c.3248T>G	c.(3247-3249)cTc>cGc	p.L1083R	TTC3_uc011aee.1_Missense_Mutation_p.L773R|TTC3_uc002ywa.3_Missense_Mutation_p.L1083R|TTC3_uc002ywb.3_Missense_Mutation_p.L1083R|TTC3_uc010gnf.3_Missense_Mutation_p.L848R|TTC3_uc002ywc.3_Missense_Mutation_p.L773R|TTC3_uc002ywd.1_Missense_Mutation_p.L147R	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	1083					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TTCGAAGCTCTCTATGACCAA	0.398													15	56					0	0	1	0	0	G	38536430	T	G	38536430	3	3	58	1	0	0	0	0	1	0	0	0	16694	1551	54	5	3370	5	TTC3	21	38536430	Missense_Mutation	SNP	T	TCGA-DU-5852-01A-11D-1705-08		38536430	9593465	70	2481											
ACE2	59272	broad.mit.edu	37	chrX	15580079	15580079	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaatcctggattattttcTcctttgctaatatcgatgga	9	17	8	7	1	1	0	0	0	1	0	4	4	2	3	2	3	1	1	2	3	4	6			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:15580079T>C	uc004cxa.1	-	17	2535	c.2367A>G	c.(2365-2367)ggA>ggG	p.G789G	ACE2_uc004cxb.2_Silent_p.G789G	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 (ACE2), mRNA.	789					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	GATTATTTTCTCCTTTGCTAA	0.323													40	66					0	0	1	0	0	C	15580079	T	C	15580079	2	2	58	1	0	0	0	0	0	0	0	1	137	1538	54	4		4	ACE2	23	15580079	Silent	SNP	T	TCGA-DU-5852-01A-11D-1705-08		15580079	139690481	71	2482											
FAM47C	442444	broad.mit.edu	37	chrX	37027911	37027911	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagtgtcccatctctgcccGgagcctccagagaaggacgt	8	7	13	13	2	1	1	0	0	1	1	4	5	3	4	4	3	2	0	4	3	1	0			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:37027911G>A	uc004ddl.2	+	0	1480	c.1428G>A	c.(1426-1428)ccG>ccA	p.P476P		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	476								p.C475Y(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ATCTCTGCCCGGAGCCTCCAG	0.622													19	37					0	0	1	0	0	A	37027911	G	A	37027911	2	1	58	1	0	0	0	0	0	0	0	1	5571	1103	39	2		2	FAM47C	23	37027911	Silent	SNP	G	TCGA-DU-5852-01A-11D-1705-08	21447832	37027911	118242649	72	2483											
CACNA1F	778	broad.mit.edu	37	chrX	49088176	49088176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatgcaggaccgtcgcagaGgattggccagggtgaggcag	9	6	18	8	2	0	3	0	2	0	1	1	5	0	5	2	5	1	3	2	5	0	1			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:49088176G>A	uc004dnb.3	-	1	301	c.239C>T	c.(238-240)cCt>cTt	p.P80L	CACNA1F_uc010nip.3_Missense_Mutation_p.P80L	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	80					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CCGTCGCAGAGGATTGGCCAG	0.602													13	39					0	0	1	0	0	A	49088176	G	A	49088176	3	1	58	1	0	0	0	0	1	0	0	0	2543	1000	35	3	5882	3	CACNA1F	23	49088176	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	12060265	49088176	106182384	73	2484											
NLGN3	54413	broad.mit.edu	37	chrX	70389237	70389237	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggctgaaaccaagggtcCgagatcattaccgggccact	10	7	12	12	3	1	2	1	1	0	1	3	3	2	2	4	3	2	1	4	3	3	1			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:70389237C>T	uc004dzd.2	+	7	2171	c.1837C>T	c.(1837-1839)Cga>Tga	p.R613*	NLGN3_uc004dzb.3_Nonsense_Mutation_p.R593*|NLGN3_uc011mps.2_Nonsense_Mutation_p.R573*|NLGN3_uc004dzc.3_Nonsense_Mutation_p.R476*|NLGN3_uc004dze.3_Nonsense_Mutation_p.R411*	NM_181303	NP_851820	Q9NZ94	NLGN3_HUMAN	Homo sapiens neuroligin 3 (NLGN3), transcript variant 1, mRNA.	613					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					ACCAAGGGTCCGAGATCATTA	0.527													4	9					0	0	1	0	0	T	70389237	C	T	70389237	4	4	58	1	0	0	0	0	0	1	0	0	10463	644	23	2	1863	2	NLGN3	23	70389237	Nonsense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	21301061	70389237	84881323	74	2485											
TGIF2LX	90316	broad.mit.edu	37	chrX	89177201	89177201	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtcgagaaataacgcagaTacaggcagagttcttgcctt	13	10	10	8	2	1	3	0	0	1	3	2	4	1	3	1	1	3	3	1	1	3	5			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:89177201T>A	uc022bzr.1	+	0	117	c.117T>A	c.(115-117)gaT>gaA	p.D39E	TGIF2LX_uc004efe.3_Missense_Mutation_p.D39E	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	Homo sapiens TGFB-induced factor homeobox 2-like, X-linked (TGIF2LX), mRNA.	39						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						ATAACGCAGATACAGGCAGAG	0.547													20	37					0	0	1	0	0	A	89177201	T	A	89177201	3	1	58	1	0	0	0	0	1	0	0	0	15824	1403	49	5	119	5	TGIF2LX	23	89177201	Missense_Mutation	SNP	T	TCGA-DU-5852-01A-11D-1705-08	18787964	89177201	66093359	75	2486											
PCDH11X	27328	broad.mit.edu	37	chrX	91090535	91090535	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccgggacgtacattttcgCggtcctgctagcatgcgtgg	5	11	14	11	5	0	0	0	0	0	0	3	1	2	1	2	3	4	3	2	3	2	4			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:91090535C>T	uc004efk.2	+	0	877	c.32C>T	c.(31-33)gCg>gTg	p.A11V	PCDH11X_uc004efl.2_Missense_Mutation_p.A11V|PCDH11X_uc010nmv.2_Missense_Mutation_p.A11V|PCDH11X_uc004efm.2_Missense_Mutation_p.A11V|PCDH11X_uc004efn.2_Missense_Mutation_p.A11V|PCDH11X_uc004efo.2_Missense_Mutation_p.A11V|PCDH11X_uc004efh.2_Missense_Mutation_p.A11V|PCDH11X_uc004efj.1_Missense_Mutation_p.A11V	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	11					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						TACATTTTCGCGGTCCTGCTA	0.493													4	93					0	0	1	0	0	T	91090535	C	T	91090535	3	4	58	1	0	0	0	0	1	0	0	0	11508	768	27	1	34	1	PCDH11X	23	91090535	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	1913334	91090535	64180025	76	2487											
PCDH11X	27328	broad.mit.edu	37	chrX	91133712	91133712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgctggcaccataactgtcGttgtagttattttcatcact	8	17	7	9	1	2	0	2	0	0	0	3	0	2	0	1	1	2	5	1	1	3	7			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:91133712G>A	uc004efk.2	+	1	3318	c.2473G>A	c.(2473-2475)Gtt>Att	p.V825I	PCDH11X_uc004efl.2_Missense_Mutation_p.V825I|PCDH11X_uc010nmv.2_Missense_Mutation_p.V825I|PCDH11X_uc004efm.2_Missense_Mutation_p.V825I|PCDH11X_uc004efn.2_Missense_Mutation_p.V825I|PCDH11X_uc004efo.2_Missense_Mutation_p.V825I|PCDH11X_uc004efh.2_Missense_Mutation_p.V825I|PCDH11X_uc004efj.1_Missense_Mutation_p.V825I	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	825					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						CATAACTGTCGTTGTAGTTAT	0.463													38	56					0	0	1	0	0	A	91133712	G	A	91133712	3	1	58	1	0	0	0	0	1	0	0	0	11508	1145	40	1	2479	1	PCDH11X	23	91133712	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	43177	91133712	64136848	77	2488											
BTK	695	broad.mit.edu	37	chrX	100613413	100613413	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acaacataatgacgtatcacCccttgagggtccctgaagaa	14	8	8	11	1	1	4	1	3	0	1	2	4	2	4	3	1	1	1	3	1	5	3			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:100613413C>A	uc010nno.2	-	11	1322	c.1089G>T	c.(1087-1089)ggG>ggT	p.G363G	BTK_uc004ehf.2_5'UTR|BTK_uc010nnh.2_Non-coding_Transcript|BTK_uc010nni.2_Non-coding_Transcript|BTK_uc004ehe.2_Non-coding_Transcript|BTK_uc010nnj.2_Non-coding_Transcript|BTK_uc010nnk.2_Non-coding_Transcript|BTK_uc010nnl.2_5'UTR|BTK_uc010nnm.2_5'UTR|BTK_uc004ehg.2_Silent_p.G329G|BTK_uc010nnn.2_Silent_p.G329G|BTK_uc004ehh.1_Non-coding_Transcript|BTK_uc004ehi.3_Silent_p.G329G	NM_000061	NP_000052	Q06187	BTK_HUMAN	Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.	329	SH2.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GACGTATCACCCCTTGAGGGT	0.473									Agammaglobulinemia, X-linked				42	67					1.59361e-14	1.68828e-14	1	1	0	A	100613413	C	A	100613413	2	1	58	1	0	0	0	0	0	0	0	1	1557	610	22	5		5	BTK	23	100613413	Silent	SNP	C	TCGA-DU-5852-01A-11D-1705-08	9479701	100613413	54657147	78	2489											
GPRASP1	9737	broad.mit.edu	37	chrX	101909474	101909474	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggagatgaggtcactgcAaaatttcatcctgggaatag	13	10	12	6	0	2	2	2	1	0	1	3	4	3	3	1	3	1	1	1	3	4	2			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:101909474A>G	uc010nod.3	+	2	1275	c.633A>G	c.(631-633)gcA>gcG	p.A211A	ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Silent_p.A211A|GPRASP1_uc004ejj.4_Silent_p.A211A|GPRASP1_uc004eji.4_Silent_p.A211A|GPRASP1_uc022cbd.1_Silent_p.A211A	NM_001099411	NP_055525	Q5JY77	GASP1_HUMAN	Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA.	211						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGGTCACTGCAAAATTTCATC	0.443													13	254					0	0	1	0	0	G	101909474	A	G	101909474	2	3	58	1	0	0	0	0	0	0	0	1	6722	117	5	3		3	GPRASP1	23	101909474	Silent	SNP	A	TCGA-DU-5852-01A-11D-1705-08	1296061	101909474	53361086	79	2490											
OCRL	4952	broad.mit.edu	37	chrX	128692669	128692669	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacaagaaaataaattcaCaaaatcagcctactgggatt	18	9	7	7	0	2	1	2	0	0	1	2	3	2	3	1	2	2	0	1	2	8	4			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:128692669C>A	uc004euq.3	+	6	664	c.499C>A	c.(499-501)Caa>Aaa	p.Q167K	OCRL_uc004eur.3_Missense_Mutation_p.Q167K	NM_000276	NP_000267	Q01968	OCRL_HUMAN	Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.	167					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi stack|Golgi-associated vesicle|clathrin-coated vesicle|cytosol|early endosome	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						AATAAATTCACAAAATCAGCC	0.393													3	71					0.004672	0.00471608	1	1	0	A	128692669	C	A	128692669	3	1	58	1	0	0	0	0	1	0	0	0	10823	479	17	5	525	5	OCRL	23	128692669	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	26783195	128692669	26577891	80	2491											
SLC9A6	10479	broad.mit.edu	37	chrX	135112296	135112296	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtctttctcctttagggttgGtgttgattcagaccaagaac	8	15	10	8	0	3	3	1	1	2	2	4	3	3	3	2	2	1	2	2	2	3	6			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:135112296G>C	uc004ezk.3	+	12	1698	c.1622G>C	c.(1621-1623)gGt>gCt	p.G541A	SLC9A6_uc011mvx.2_Missense_Mutation_p.G489A|SLC9A6_uc004ezj.3_Missense_Mutation_p.G509A	NM_001042537	NP_001036002	Q92581	SL9A6_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 6 (SLC9A6), transcript variant 1, mRNA.	509					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TTTAGGGTTGGTGTTGATTCA	0.358													22	69					0	0	1	0	0	C	135112296	G	C	135112296	3	2	58	1	0	0	0	0	1	0	0	0	14718	1261	44	5	1672	5	SLC9A6	23	135112296	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	6419627	135112296	20158264	81	2492											
GPR112	139378	broad.mit.edu	37	chrX	135405491	135405491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atggaaatatagttagttggGaagaagacgtctggcttgtc	12	12	13	4	1	1	2	0	0	1	2	2	4	1	4	0	3	0	3	0	3	6	5			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:135405491G>A	uc004ezu.1	+	4	916	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	GPR112_uc010nsb.1_Intron	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	209					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGTTAGTTGGGAAGAAGACGT	0.438													35	123					0	0	1	0	0	A	135405491	G	A	135405491	3	1	58	1	0	0	0	0	1	0	0	0	6629	1175	41	3	631	3	GPR112	23	135405491	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	293195	135405491	19865069	82	2493											
SPANXN1	494118	broad.mit.edu	37	chrX	144337223	144337223	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaacagggacttagccccCgaaccgagtttgaaaaagat	15	6	9	11	2	0	2	0	1	0	1	0	5	0	3	4	1	3	1	4	1	5	2			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:144337223C>T	uc004fcb.2	+	1	108	c.108C>T	c.(106-108)ccC>ccT	p.P36P		NM_001009614	NP_001009614	Q5VSR9	SPXN1_HUMAN	Homo sapiens SPANX family, member N1 (SPANXN1), mRNA.	36								p.P36T(1)		endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					ACTTAGCCCCCGAACCGAGTT	0.403													35	52					0	0	1	0	0	T	144337223	C	T	144337223	2	4	58	1	0	0	0	0	0	0	0	1	14990	639	23	2		2	SPANXN1	23	144337223	Silent	SNP	C	TCGA-DU-5852-01A-11D-1705-08	8931732	144337223	10933337	83	2494											
F8	2157	broad.mit.edu	37	chrX	154065952	154065952	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaactctgggggtgaattcGaaggtagcgagtcagtaacg	11	8	14	8	3	2	1	1	1	1	0	3	3	2	1	1	3	3	2	1	3	5	3	rs137852354		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:154065952G>A	uc004fmt.3	-	25	7147	c.6976C>T	c.(6976-6978)Cga>Tga	p.R2326*	F8_uc004fms.3_Nonsense_Mutation_p.R191*	NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	2326	F5/8 type C 2.		R -> G (in HEMA).|R -> L (in HEMA; severe/moderate; may cause reduced phospholipid binding).|R -> P (in HEMA; severe sporadic).|R -> Q (in HEMA; moderate/mild; may cause reduced phospholipid binding).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGGTGAATTCGAAGGTAGCGA	0.527													7	23					0	0	1	0	0	A	154065952	G	A	154065952	4	1	58	1	0	0	0	0	0	1	0	0	5350	1066	37	2	83	2	F8	23	154065952	Nonsense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	9728729	154065952	1204608	84	2495											
PGM1	5236	broad.mit.edu	37	chr1	64100510	64100510	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtatatagttgtgggaccGtatgtaaagaagatcctctg	11	13	11	6	1	1	2	0	0	1	2	2	3	2	3	2	1	0	4	2	1	7	6			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr1:64100510G>A	uc010ooz.2	+	4	992	c.747G>A	c.(745-747)ccG>ccA	p.P249P	PGM1_uc001dbh.3_Silent_p.P231P|PGM1_uc010ooy.2_Silent_p.P34P	NM_001172818	NP_001166290	P36871	PGM1_HUMAN	Homo sapiens phosphoglucomutase 1 (PGM1), transcript variant 2, mRNA.	231					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TTGTGGGACCGTATGTAAAGA	0.473													4	144					0	0	0.000248	0	0	A	64100510	G	A	64100510	2	1	59	1	0	0	0	0	0	0	0	1	11797	1132	40	1		1	PGM1	1	64100510	Silent	SNP	G	TCGA-DU-5853-01A-11D-1893-08		64100510	185150111	1	2496											
DCST1	149095	broad.mit.edu	37	chr1	155013046	155013046	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagatcaacaacacccgCgcagcttggcgcatctccac	10	6	8	17	3	2	1	1	0	1	1	3	1	2	1	2	1	4	4	2	1	2	1	rs141235792		TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr1:155013046C>T	uc001fgn.2	+	5	591	c.477C>T	c.(475-477)cgC>cgT	p.R159R	DCST1_uc010per.2_Silent_p.R184R|DCST1_uc010pes.2_Silent_p.R134R	NM_152494	NP_689707	Q5T197	DCST1_HUMAN	Homo sapiens DC-STAMP domain containing 1 (DCST1), transcript variant 1, mRNA.	159						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			ACAACACCCGCGCAGCTTGGC	0.617													4	9					0	0	0.000248	0	0	T	155013046	C	T	155013046	2	4	59	1	0	0	0	0	0	0	0	1	4302	755	27	1		1	DCST1	1	155013046	Silent	SNP	C	TCGA-DU-5853-01A-11D-1893-08	90912536	155013046	94237575	2	2497											
SEMA4F	10505	broad.mit.edu	37	chr2	74901749	74901749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaggatgttgctgtgcttcGacctgagcttggggcaggga	6	10	17	8	1	0	1	0	1	0	0	1	4	0	3	1	4	3	6	1	4	0	3			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr2:74901749G>A	uc002sna.1	+	7	1058	c.947G>A	c.(946-948)cGa>cAa	p.R316Q	SEMA4F_uc021vjn.1_Missense_Mutation_p.R316Q|SEMA4F_uc010ffq.1_Missense_Mutation_p.R283Q|SEMA4F_uc010ffr.1_5'UTR|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Missense_Mutation_p.R161Q	NM_004263	NP_004254	O95754	SEM4F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.	316	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GCTGTGCTTCGACCTGAGCTT	0.562													21	224					0	0	0.001882	0	0	A	74901749	G	A	74901749	3	1	59	1	0	0	0	0	1	0	0	0	14035	1058	37	2	977	2	SEMA4F	2	74901749	Missense_Mutation	SNP	G	TCGA-DU-5853-01A-11D-1893-08		74901749	168297624	3	2498											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								38	45					0	0	0.002522	0	0	T	209113112	C	T	209113112	3	4	59	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-5853-01A-11D-1893-08	134211363	209113112	34086261	4	2499											
GIGYF2	26058	broad.mit.edu	37	chr2	233655736	233655736	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaagtacagaaagagcctAttccagaagagcaggagatg	18	5	12	6	0	0	6	0	0	0	6	1	7	1	6	2	1	3	2	2	1	5	3			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr2:233655736A>G	uc002vtj.4	+	12	1282	c.1015A>G	c.(1015-1017)Att>Gtt	p.I339V	GIGYF2_uc010zmj.1_Missense_Mutation_p.I317V|GIGYF2_uc002vtg.2_Missense_Mutation_p.I311V|GIGYF2_uc002vti.4_Missense_Mutation_p.I317V|GIGYF2_uc002vtk.4_Missense_Mutation_p.I317V|GIGYF2_uc002vth.4_Missense_Mutation_p.I311V|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc010zml.1_Missense_Mutation_p.I148V	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	317					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GAAAGAGCCTATTCCAGAAGA	0.443													3	92					0	0	0.004672	0	0	G	233655736	A	G	233655736	3	3	59	1	0	0	0	0	1	0	0	0	6378	449	16	3	1053	3	GIGYF2	2	233655736	Missense_Mutation	SNP	A	TCGA-DU-5853-01A-11D-1893-08	24542624	233655736	9543637	5	2500											
SCN10A	6336	broad.mit.edu	37	chr3	38793869	38793869	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcagcagagagccccgatgGctttcgtggtctccaggaaa	10	7	13	11	2	1	1	0	0	1	1	3	4	1	2	3	3	3	3	3	3	1	1			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr3:38793869G>T	uc003ciq.3	-	10	1596	c.1596C>A	c.(1594-1596)agC>agA	p.S532R		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	532					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGCCCCGATGGCTTTCGTGGT	0.602													7	82					0.00198382	0.00247977	0.001984	1	0	T	38793869	G	T	38793869	3	4	59	1	0	0	0	0	1	0	0	0	13912	1194	42	5	4342	5	SCN10A	3	38793869	Missense_Mutation	SNP	G	TCGA-DU-5853-01A-11D-1893-08		38793869	159228561	6	2501											
CD200	4345	broad.mit.edu	37	chr3	112064083	112064083	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtgttacatgtgtctcttCaatacctttggttttgggaa	7	17	11	6	0	2	0	1	0	1	0	3	1	2	1	1	3	2	2	1	3	4	6			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr3:112064083C>T	uc003dyw.3	+	3	588	c.444C>T	c.(442-444)ttC>ttT	p.F148F	CD200_uc010hqd.1_Missense_Mutation_p.S9L|CD200_uc003dyx.3_Silent_p.F123F|CD200_uc003dyz.3_Silent_p.F49F|CD200_uc003dyy.3_Missense_Mutation_p.S9L	NM_001004196	NP_001004196	P41217	OX2G_HUMAN	Homo sapiens CD200 molecule (CD200), transcript variant 2, mRNA.	123	Ig-like C2-type.				regulation of immune response	integral to plasma membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				TGTGTCTCTTCAATACCTTTG	0.443													4	125					0	0	0.000248	0	0	T	112064083	C	T	112064083	2	4	59	1	0	0	0	0	0	0	0	1	2980	825	29	3		3	CD200	3	112064083	Silent	SNP	C	TCGA-DU-5853-01A-11D-1893-08	73270214	112064083	85958347	7	2502											
KIT	3815	broad.mit.edu	37	chr4	55561801	55561801	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcactgatccgggctttgTcaaatggacttttgagatcc	9	13	10	9	1	1	2	1	2	0	1	3	4	3	3	2	2	1	2	2	2	1	3			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr4:55561801T>G	uc010igr.3	+	1	278	c.191T>G	c.(190-192)gTc>gGc	p.V64G	KIT_uc010igs.3_Missense_Mutation_p.V64G	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	64	Ig-like C2-type 1.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCGGGCTTTGTCAAATGGACT	0.493		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				4	78					0	0	0.000248	0	0	G	55561801	T	G	55561801	3	3	59	1	0	0	0	0	1	0	0	0	8329	1667	58	5	197	5	KIT	4	55561801	Missense_Mutation	SNP	T	TCGA-DU-5853-01A-11D-1893-08		55561801	135592475	8	2503											
PCDHGC5	56097	broad.mit.edu	37	chr5	140730818	140730818	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagctcactgtaatgttcaaAtagaaattgttgacgagaat	15	12	8	6	1	2	3	2	1	0	2	2	4	2	3	0	0	1	4	0	0	5	5			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr5:140730818A>G	uc003ljo.2	+	0	991	c.991A>G	c.(991-993)Ata>Gta	p.I331V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Missense_Mutation_p.I331V	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	338	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAATGTTCAAATAGAAATTGT	0.428													6	76					0	0	0.001984	0	0	G	140730818	A	G	140730818	3	3	59	1	0	0	0	0	1	0	0	0	11571	101	4	3		3	PCDHGC5	5	140730818	Missense_Mutation	SNP	A	TCGA-DU-5853-01A-11D-1893-08		140730818	40184442	9	2504											
GPR31	2853	broad.mit.edu	37	chr6	167570606	167570606	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcaggactctggccaggaaGcagggcagaaagcacagagc	14	3	14	10	0	2	2	1	0	1	2	2	4	2	4	1	4	3	3	1	4	2	0			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr6:167570606G>A	uc011egq.2	-	0	714	c.714C>T	c.(712-714)tgC>tgT	p.C238C		NM_005299	NP_005290	O00270	GPR31_HUMAN	Homo sapiens G protein-coupled receptor 31 (GPR31), mRNA.	238						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		TGGCCAGGAAGCAGGGCAGAA	0.592													11	118					0	0	0.000978	0	0	A	167570606	G	A	167570606	2	1	59	1	0	0	0	0	0	0	0	1	6687	963	34	3		3	GPR31	6	167570606	Silent	SNP	G	TCGA-DU-5853-01A-11D-1893-08		167570606	3544461	10	2505											
UNC93A	54346	broad.mit.edu	37	chr6	167717405	167717405	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctttgctatgtcctttcAgggagtggtgtcctggctgt	4	15	13	9	0	1	0	1	0	0	0	3	1	3	1	3	3	2	2	3	3	1	3			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr6:167717405A>G	uc003qvq.3	+	5	801	c.626_splice	c.e5-2	p.G209_splice	UNC93A_uc003qvr.3_Splice_Site_p.G167_splice	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.	209						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ATGTCCTTTCAGGGAGTGGTG	0.537													27	105					0	0	0.002836	0	0	G	167717405	A	G	167717405	5	3	59	1	0	0	0	0	0	0	1	0	16993	202	7	4	642	4	UNC93A	6	167717405	Splice_Site	SNP	A	TCGA-DU-5853-01A-11D-1893-08	146799	167717405	3397662	11	2506											
NOS3	4846	broad.mit.edu	37	chr7	150693876	150693876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcccaggcccacgaacagCggcttcaagaggtggaagcc	10	4	13	14	2	1	1	1	0	0	1	2	3	2	2	3	4	3	2	3	4	3	1			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr7:150693876C>T	uc003wif.3	+	4	741	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	NOS3_uc011kuy.2_Intron|NOS3_uc011kva.2_Missense_Mutation_p.R149W|NOS3_uc011kuz.2_Missense_Mutation_p.R149W|NOS3_uc011kvb.2_Missense_Mutation_p.R149W	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	149	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.R149R(2)		NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CCACGAACAGCGGCTTCAAGA	0.657													6	23					0	0	0.006214	0	0	T	150693876	C	T	150693876	3	4	59	1	0	0	0	0	1	0	0	0	10544	759	27	1	459	1	NOS3	7	150693876	Missense_Mutation	SNP	C	TCGA-DU-5853-01A-11D-1893-08		150693876	8444787	12	2507											
MLL3	58508	broad.mit.edu	37	chr7	151842271	151842271	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttgacatgggcactcattTtaggttcagaacgggcacaa	11	11	10	9	1	3	2	2	1	1	1	3	2	3	2	0	3	1	3	0	3	3	4			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr7:151842271T>G	uc003wla.3	-	53	14360	c.14141A>C	c.(14140-14142)aAa>aCa	p.K4714T	MLL3_uc003wkz.3_Missense_Mutation_p.K3832T|MLL3_uc003wkx.3_Missense_Mutation_p.K872T|MLL3_uc003wky.3_Missense_Mutation_p.K2278T	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4714					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GGCACTCATTTTAGGTTCAGA	0.448			N		medulloblastoma								16	117					0	0	0.00499	0	0	G	151842271	T	G	151842271	3	3	59	1	0	0	0	0	1	0	0	0	9622	1841	64	5	618	5	MLL3	7	151842271	Missense_Mutation	SNP	T	TCGA-DU-5853-01A-11D-1893-08	1148395	151842271	7296392	13	2508											
KIAA1429	25962	broad.mit.edu	37	chr8	95523837	95523837	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtccccatgttgacatggAgcctccaaggctgagtcaga	10	9	11	11	0	1	3	1	2	0	1	3	4	3	4	4	2	1	2	4	2	2	2			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr8:95523837A>G	uc003ygo.2	-	12	3037	c.2966T>C	c.(2965-2967)cTc>cCc	p.L989P	KIAA1429_uc003ygp.3_Missense_Mutation_p.L989P|KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	989					RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTTGACATGGAGCCTCCAAGG	0.428													3	111					0	0	0.004672	0	0	G	95523837	A	G	95523837	3	3	59	1	0	0	0	0	1	0	0	0	8231	304	11	4	2574	4	KIAA1429	8	95523837	Missense_Mutation	SNP	A	TCGA-DU-5853-01A-11D-1893-08		95523837	50840185	14	2509											
FAM178A	55719	broad.mit.edu	37	chr10	102683830	102683830	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctatgataccaaaagcaagaGagtccttccttgagaagcgt	14	9	9	9	1	0	3	0	2	0	2	2	5	2	3	3	0	3	1	3	0	6	4			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr10:102683830G>C	uc001krs.3	+	4	1614	c.1072G>C	c.(1072-1074)Gag>Cag	p.E358Q	FAM178A_uc001krr.1_Missense_Mutation_p.E358Q|FAM178A_uc001krt.4_Missense_Mutation_p.E358Q|FAM178A_uc001kru.1_Missense_Mutation_p.E293Q	NM_001136123	NP_001129595	Q8IX21	F178A_HUMAN	Homo sapiens family with sequence similarity 178, member A (FAM178A), transcript variant 2, mRNA.	358																	AAAAGCAAGAGAGTCCTTCCT	0.398													5	46					0	0	0.001168	0	0	C	102683830	G	C	102683830	3	2	59	1	0	0	0	0	1	0	0	0	5503	943	33	5	1090	5	FAM178A	10	102683830	Missense_Mutation	SNP	G	TCGA-DU-5853-01A-11D-1893-08		102683830	32850917	15	2510											
UCP3	7352	broad.mit.edu	37	chr11	73714925	73714925	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accatctttatcatacagtcGagggggctgaagtactggcc	10	10	11	10	1	2	1	1	1	1	0	3	2	2	1	2	3	2	2	2	3	4	4			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr11:73714925G>A	uc001our.3	-	5	1126	c.771C>T	c.(769-771)ctC>ctT	p.L257L	UCP3_uc001ous.2_Silent_p.L257L	NM_003356	NP_003347	P55916	UCP3_HUMAN	Homo sapiens uncoupling protein 3 (mitochondrial, proton carrier) (UCP3), nuclear gene encoding mitochondrial protein, transcript variant long, mRNA.	257					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TCATACAGTCGAGGGGGCTGA	0.617													8	194					0	0	0.004482	0	0	A	73714925	G	A	73714925	2	1	59	1	0	0	0	0	0	0	0	1	16929	1045	37	2		2	UCP3	11	73714925	Silent	SNP	G	TCGA-DU-5853-01A-11D-1893-08		73714925	61291591	16	2511											
MLL	4297	broad.mit.edu	37	chr11	118344301	118344301	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgactcagtctggggaatcTgcagagaaaaatcagagacc	14	7	11	9	0	4	3	2	1	2	2	4	6	4	4	1	2	1	1	1	2	3	0			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr11:118344301T>A	uc001pta.3	+	2	2450	c.2427T>A	c.(2425-2427)tcT>tcA	p.S809S	MLL_uc001ptb.3_Silent_p.S809S|MLL_uc001psz.1_Silent_p.S842S|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	809					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CTGGGGAATCTGCAGAGAAAA	0.468			"T, O"	"MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"	"AML, ALL"								7	167					0	0	0.00308	0	0	A	118344301	T	A	118344301	2	1	59	1	0	0	0	0	0	0	0	1	9620	1567	55	5		5	MLL	11	118344301	Silent	SNP	T	TCGA-DU-5853-01A-11D-1893-08	44629376	118344301	16662215	17	2512											
KRT8	3856	broad.mit.edu	37	chr12	53293635	53293635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagagatctcagtctttgtgCgccgcaggtcatccccgtgc	6	10	11	14	3	3	1	2	0	2	1	5	2	4	1	3	1	2	1	3	1	0	1			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr12:53293635C>T	uc009zmk.1	-	5	1009	c.989G>A	c.(988-990)cGc>cAc	p.R330H	KRT8_uc001sbd.2_Missense_Mutation_p.R302H|KRT8_uc009zml.1_Missense_Mutation_p.R302H|KRT8_uc009zmm.1_Missense_Mutation_p.R302H	NM_002273	NP_002264	P05787	K2C8_HUMAN	Homo sapiens keratin 8 (KRT8), transcript variant 2, mRNA.	302	Coil 2.|Necessary for interaction with PNN.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTCTTTGTGCGCCGCAGGTC	0.602													30	35					0	0	0.007291	0	0	T	53293635	C	T	53293635	3	4	59	1	0	0	0	0	1	0	0	0	8493	768	27	1	562	1	KRT8	12	53293635	Missense_Mutation	SNP	C	TCGA-DU-5853-01A-11D-1893-08		53293635	80558260	18	2513											
ATP5B	506	broad.mit.edu	37	chr12	57036472	57036472	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttacctctgaaccagcctgGgtgaagcgaaagatgttatc	11	10	10	10	1	1	3	0	2	1	1	2	4	1	3	3	1	4	1	3	1	5	2			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr12:57036472G>C	uc001slr.3	-	5	1041	c.936C>G	c.(934-936)acC>acG	p.T312T		NM_001686	NP_001677	P06576	ATPB_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide (ATP5B), nuclear gene encoding mitochondrial protein, mRNA.	312					ATP hydrolysis coupled proton transport|angiogenesis|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|MHC class I protein binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AACCAGCCTGGGTGAAGCGAA	0.483													25	67					0	0	0.00632	0	0	C	57036472	G	C	57036472	2	2	59	1	0	0	0	0	0	0	0	1	1148	1219	43	5		5	ATP5B	12	57036472	Silent	SNP	G	TCGA-DU-5853-01A-11D-1893-08	3742837	57036472	76815423	19	2514											
SLC5A8	160728	broad.mit.edu	37	chr12	101577979	101577979	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggataatcttgcagaatgtCcagtaccaaataaggcatga	15	10	9	7	0	1	2	0	1	1	1	2	3	2	3	2	2	2	3	2	2	5	4			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr12:101577979C>A	uc001thz.4	-	7	1375	c.985G>T	c.(985-987)Gac>Tac	p.D329Y		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	329					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	p.D329N(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGCAGAATGTCCAGTACCAAA	0.348													9	48					0.000442599	0.000569056	0.006214	1	0	A	101577979	C	A	101577979	3	1	59	1	0	0	0	0	1	0	0	0	14671	855	30	5	879	5	SLC5A8	12	101577979	Missense_Mutation	SNP	C	TCGA-DU-5853-01A-11D-1893-08	44541507	101577979	32273916	20	2515											
SERPINA9	327657	broad.mit.edu	37	chr14	94929626	94929626	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacatccagcacagccttgTgggttgcctgccaagggaaa	10	8	12	11	0	0	1	0	1	0	0	1	2	1	2	4	2	4	2	4	2	2	2			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr14:94929626T>A	uc001ydf.3	-	4	1273	c.1112A>T	c.(1111-1113)cAc>cTc	p.H371L	SERPINA9_uc001yde.3_Missense_Mutation_p.H271L|SERPINA9_uc010avc.3_Missense_Mutation_p.H222L|SERPINA9_uc001ydg.3_Missense_Mutation_p.H335L	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.	353				T -> A (in Ref. 1; AAO65242).	regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CACAGCCTTGTGGGTTGCCTG	0.502													14	75					0	0	0.003163	0	0	A	94929626	T	A	94929626	3	1	59	1	0	0	0	0	1	0	0	0	14095	1696	59	5	199	5	SERPINA9	14	94929626	Missense_Mutation	SNP	T	TCGA-DU-5853-01A-11D-1893-08		94929626	12419914	21	2516											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			33	4					0	0	0.002096	0	0	A	7577121	G	A	7577121	3	1	59	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DU-5853-01A-11D-1893-08		7577121	73618089	22	2517											
DDX5	1655	broad.mit.edu	37	chr17	62500099	62500102	+	Splice_Site	DEL	ACAG	ACAG	-																															tcaagagttctcccaaacttAcagacaatgttttcccagat																										TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr17:62500099_62500102delACAG	uc010deh.2	-	4	484	c.441_splice	c.e4+1	p.S147_splice	DDX5_uc002jek.2_Splice_Site_p.S147_splice|DDX5_uc002jej.2_Splice_Site_p.S42_splice|DDX5_uc010wqa.1_Intron|MIR5047_uc021ubs.1_5'Flank|DDX5_uc002jel.1_5'Flank	NM_004396	NP_004387	P17844	DDX5_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.	147	Helicase ATP-binding.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|mRNA binding|protein binding|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCCCAAACTTACAGACAATGTTTT	0.397			T	ETV4	prostate								7	202	---	---	---	---						-	62500102	ACAG	-	62500099	8	5	59	1	0	1	0	1	0	0	1	0	4367	405	14	0	1441	0	DDX5	17	62500099	Splice_Site	DEL	ACAG	TCGA-DU-5853-01A-11D-1893-08	54922978	62500099	18695111	23	2518											
MUC16	94025	broad.mit.edu	37	chr19	9046747	9046747	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtgaggtcactaccccTggtatactgggtgggatggt	7	11	14	9	0	1	1	1	1	0	0	1	2	1	2	3	5	2	1	3	5	3	3			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr19:9046747T>A	uc002mkp.3	-	4	35088	c.34884A>T	c.(34882-34884)ccA>ccT	p.P11628P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11630	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCACTACCCCTGGTATACTGG	0.512													16	147					0	0	0.00499	0	0	A	9046747	T	A	9046747	2	1	59	1	0	0	0	0	0	0	0	1	9973	1567	55	5		5	MUC16	19	9046747	Silent	SNP	T	TCGA-DU-5853-01A-11D-1893-08		9046747	50082236	24	2519											
PSG7	5676	broad.mit.edu	37	chr19	43439742	43439742	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatttgaccgtctactatatAtgatgtaacataatggtaga	14	15	7	5	1	1	3	0	2	1	1	1	3	1	3	1	1	2	2	1	1	8	9			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr19:43439742A>G	uc002ovl.4	-	1	346	c.244T>C	c.(244-246)Tat>Cat	p.Y82H	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Intron	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	82	Ig-like V-type.				female pregnancy	extracellular region							Prostate(69;0.00682)				TCTACTATATATGATGTAACA	0.418													23	446					0	0	0.001882	0	0	G	43439742	A	G	43439742	3	3	59	1	0	0	0	0	1	0	0	0	12660	449	16	3	1035	3	PSG7	19	43439742	Missense_Mutation	SNP	A	TCGA-DU-5853-01A-11D-1893-08	34392995	43439742	15689241	25	2520											
SIGLEC9	27180	broad.mit.edu	37	chr19	51628865	51628865	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaccagccttgacccacAggcccaacatcctcatccca	10	7	4	20	0	2	1	2	1	0	0	4	1	4	1	6	1	2	0	6	1	1	2			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr19:51628865A>T	uc010yct.2	+	1	528	c.433A>T	c.(433-435)Agg>Tgg	p.R145W	SIGLEC9_uc002pvu.3_Missense_Mutation_p.R145W	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	145					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CTTGACCCACAGGCCCAACAT	0.642													5	221					0	0	0.001168	0	0	T	51628865	A	T	51628865	3	4	59	1	0	0	0	0	1	0	0	0	14315	179	7	5	439	5	SIGLEC9	19	51628865	Missense_Mutation	SNP	A	TCGA-DU-5853-01A-11D-1893-08	8189123	51628865	7500118	26	2521											
NKX2-2	4821	broad.mit.edu	37	chr20	21492966	21492966	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgccgctccagctcgtaggtCtgcgccttggagaaaagcac	8	7	12	14	4	1	1	0	0	1	1	3	2	2	1	3	2	3	4	3	2	3	2			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr20:21492966C>G	uc002wsi.3	-	1	774	c.417G>C	c.(415-417)caG>caC	p.Q139H		NM_002509	NP_002500	O95096	NKX22_HUMAN	Homo sapiens NK2 homeobox 2 (NKX2-2), mRNA.	139					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GCTCGTAGGTCTGCGCCTTGG	0.692													16	26					0	0	0.006122	0	0	G	21492966	C	G	21492966	3	3	59	1	0	0	0	0	1	0	0	0	10450	912	32	5	408	5	NKX2-2	20	21492966	Missense_Mutation	SNP	C	TCGA-DU-5853-01A-11D-1893-08		21492966	41532554	27	2522											
COL6A1	1291	broad.mit.edu	37	chr21	47409674	47409674	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgggtgtgtagggagaaaaAgggagccgtggggagaaggt	11	6	21	3	1	0	2	0	0	0	2	0	5	0	3	1	6	1	1	1	6	4	1			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr21:47409674A>G	uc002zhu.1	+	10	1014	c.912A>G	c.(910-912)aaA>aaG	p.K304K		NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	304	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AGGGAGAAAAAGGGAGCCGTG	0.637													3	109					0	0	0.004672	0	0	G	47409674	A	G	47409674	2	3	59	1	0	0	0	0	0	0	0	1	3699	69	3	4		4	COL6A1	21	47409674	Silent	SNP	A	TCGA-DU-5853-01A-11D-1893-08		47409674	720221	28	2523											
PATZ1	23598	broad.mit.edu	37	chr22	31740738	31740738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcctgcctccctcaggcccCctggggacccaaacattgag	7	7	10	17	0	1	1	1	1	0	0	2	2	2	2	6	3	3	0	6	3	1	1			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr22:31740738C>T	uc003akq.3	-	0	1512	c.851G>A	c.(850-852)gGg>gAg	p.G284E	PATZ1_uc003akp.3_Missense_Mutation_p.G284E|PATZ1_uc003akr.3_Missense_Mutation_p.G284E|PATZ1_uc003aks.3_Missense_Mutation_p.G284E|Em:AC005003.4_uc003akt.3_5'Flank	NM_014323	NP_055138	Q9HBE1	PATZ1_HUMAN	Homo sapiens POZ (BTB) and AT hook containing zinc finger 1 (PATZ1), transcript variant 1, mRNA.	284					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CCTCAGGCCCCCTGGGGACCC	0.652													6	18					0	0	0.00308	0	0	T	31740738	C	T	31740738	3	4	59	1	0	0	0	0	1	0	0	0	11476	623	22	3	1515	3	PATZ1	22	31740738	Missense_Mutation	SNP	C	TCGA-DU-5853-01A-11D-1893-08		31740738	19563828	29	2524											
ATRX	546	broad.mit.edu	37	chrX	76845411	76845411	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggactggctgaaaacaaggCtaaaaaaacagattagtgtt	17	8	11	5	0	0	2	0	1	0	1	0	3	0	3	0	3	2	3	0	3	8	3			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chrX:76845411C>T	uc004ecp.4	-	27	6343	c.6111_splice	c.e27-1	p.V2037_splice	ATRX_uc004ecq.4_Splice_Site_p.V1999_splice|ATRX_uc004eco.4_Splice_Site_p.V1822_splice	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2037	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GAAAACAAGGCTAAAAAAACA	0.323			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						23	6					0	0	0.001882	0	0	T	76845411	C	T	76845411	5	4	59	1	0	0	0	0	0	0	1	0	1208	811	28	3	1404	3	ATRX	23	76845411	Splice_Site	SNP	C	TCGA-DU-5853-01A-11D-1893-08		76845411	78425149	30	2525											
C1orf158	93190	broad.mit.edu	37	chr1	12820859	12820859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcccggtccctccccatcGcctgcatcctttcccacact	4	10	6	21	2	0	0	0	0	0	0	6	0	5	0	7	2	1	1	7	2	0	1			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr1:12820859G>A	uc001auh.3	+	3	776	c.560G>A	c.(559-561)cGc>cAc	p.R187H		NM_152290	NP_689503	Q8N1D5	CA158_HUMAN	Homo sapiens chromosome 1 open reading frame 158 (C1orf158), mRNA.	187								p.R187P(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|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;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCCCCATCGCCTGCATCCT	0.577													7	35					0	0	0.27861	0	0	A	12820859	G	A	12820859	3	1	60	1	0	0	0	0	1	0	0	0	2007	1087	38	1	574	1	C1orf158	1	12820859	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08		12820859	236429762	1	2526											
EDN2	1907	broad.mit.edu	37	chr1	41948222	41948222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagggagcggcgccggcGtcttggcgggtttcccaggc	3	7	19	12	5	1	0	0	0	1	0	2	1	2	1	2	7	1	2	2	7	0	2			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr1:41948222G>A	uc001cgx.3	-	2	331	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	EDN2_uc001cgu.3_Non-coding_Transcript|EDN2_uc001cgv.3_Non-coding_Transcript|EDN2_uc009vwh.3_5'UTR|EDN2_uc001cgw.3_Non-coding_Transcript|EDN2_uc009vwi.3_Intron|EDN2_uc009vwj.3_Intron	NM_001956	NP_001947	P20800	EDN2_HUMAN	Homo sapiens endothelin 2 (EDN2), mRNA.	87					artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space	endothelin B receptor binding|hormone activity	p.R87L(1)		endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGGCGCCGGCGTCTTGGCGGG	0.642													9	24					0	0	0.307466	0	0	A	41948222	G	A	41948222	3	1	60	1	0	0	0	0	1	0	0	0	4917	1145	40	1	289	1	EDN2	1	41948222	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08	29127363	41948222	207302399	2	2527											
SNX7	51375	broad.mit.edu	37	chr1	99157205	99157205	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accgaattgctgatcatccaActttaacatttaatgaagac	15	12	5	9	1	1	3	1	2	0	1	2	4	2	3	2	0	3	1	2	0	5	5			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr1:99157205A>G	uc010ouc.2	+	3	641	c.589A>G	c.(589-591)Act>Gct	p.T197A	SNX7_uc001dsa.3_Missense_Mutation_p.T133A|SNX7_uc010oud.2_Intron	NM_015976	NP_057060	Q9UNH6	SNX7_HUMAN	Homo sapiens sorting nexin 7 (SNX7), transcript variant 1, mRNA.	133					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		TGATCATCCAACTTTAACATT	0.328													11	43					0	0	0.361761	0	0	G	99157205	A	G	99157205	3	3	60	1	0	0	0	0	1	0	0	0	14907	43	2	3	603	3	SNX7	1	99157205	Missense_Mutation	SNP	A	TCGA-DU-5854-01A-11D-1705-08	57208983	99157205	150093416	3	2528											
OR10J3	441911	broad.mit.edu	37	chr1	159283478	159283478	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattagtacatatttataaaCgcaaaggaaaagccttcaca	19	10	5	7	1	1	0	1	0	0	0	1	1	1	1	1	1	3	2	1	1	10	7			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr1:159283478C>T	uc010piu.2	-	0	972	c.972G>A	c.(970-972)gcG>gcA	p.A324A		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	324					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A324A(2)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TATTTATAAACGCAAAGGAAA	0.398													7	60					0	0	0.248553	0	0	T	159283478	C	T	159283478	2	4	60	1	0	0	0	0	0	0	0	1	10911	523	19	1		1	OR10J3	1	159283478	Silent	SNP	C	TCGA-DU-5854-01A-11D-1705-08	60126273	159283478	89967143	4	2529											
SLC45A3	85414	broad.mit.edu	37	chr1	205628648	205628648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagaggccccgcagagcGcgggtggaggtgggagcagg	8	2	22	9	3	0	2	0	0	0	2	0	4	0	4	2	7	2	3	2	7	0	0	rs140263007	byFrequency	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr1:205628648G>A	uc001hda.1	-	4	1715	c.1376C>T	c.(1375-1377)gCg>gTg	p.A459V	SLC45A3_uc010prn.1_Intron|SLC45A3_uc010pro.1_Intron|SLC45A3_uc010prp.1_Intron|SLC45A3_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	Homo sapiens solute carrier family 45, member 3 (SLC45A3), mRNA.	459					transmembrane transport	integral to membrane		p.A459A(1)	SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CCCGCAGAGCGCGGGTGGAGG	0.677			T	"ETV1, ETV5, ELK4, ERG"	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	8					0	0	0.248553	0	0	A	205628648	G	A	205628648	3	1	60	1	0	0	0	0	1	0	0	0	14642	1087	38	1	289	1	SLC45A3	1	205628648	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08	46345170	205628648	43621973	5	2530											
HEATR1	55127	broad.mit.edu	37	chr1	236766587	236766587	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tttggtctgaacacttcgctCcaaggtttttgctagctgac	7	15	9	10	1	1	2	0	2	1	0	3	2	2	2	1	2	3	4	1	2	3	5			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr1:236766587C>G	uc001hyd.2	-	2	384	c.232G>C	c.(232-234)Gag>Cag	p.E78Q	HEATR1_uc001hye.2_Missense_Mutation_p.E78Q	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	78					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ACACTTCGCTCCAAGGTTTTT	0.418													14	48					0	0	0.479597	0	0	G	236766587	C	G	236766587	3	3	60	1	0	0	0	0	1	0	0	0	7027	864	30	5	6374	5	HEATR1	1	236766587	Missense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08	31137939	236766587	12484034	6	2531											
OR2L8	391190	broad.mit.edu	37	chr1	248112581	248112581	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgagcaaaagagtgtgtgTgctgatgataacagggtctt	12	11	13	5	0	1	4	0	3	1	1	1	4	1	4	0	1	3	2	0	1	3	2			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr1:248112581T>A	uc001idt.1	+	0	422	c.422T>A	c.(421-423)gTg>gAg	p.V141E	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	141					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)			AGAGTGTGTGTGCTGATGATA	0.448													49	133					0	0	0.870114	0	0	A	248112581	T	A	248112581	3	1	60	1	0	0	0	0	1	0	0	0	11009	1696	59	5	424	5	OR2L8	1	248112581	Missense_Mutation	SNP	T	TCGA-DU-5854-01A-11D-1705-08	11345994	248112581	1138040	7	2532											
CCDC108	255101	broad.mit.edu	37	chr2	219868992	219868992	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctctggtctgtcttccttcGgctgcttgcccttcccatcc	1	15	8	17	1	3	0	0	0	3	0	7	0	6	0	4	2	2	3	4	2	0	4			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr2:219868992G>A	uc002vjl.1	-	32	5321	c.5237C>T	c.(5236-5238)cCg>cTg	p.P1746L	MIR375_uc010fvz.1_5'Flank	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1746						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCTTCCTTCGGCTGCTTGCC	0.532													29	66					0	0	0.717897	0	0	A	219868992	G	A	219868992	3	1	60	1	0	0	0	0	1	0	0	0	2743	1116	39	2	552	2	CCDC108	2	219868992	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08		219868992	23330381	8	2533											
STT3B	201595	broad.mit.edu	37	chr3	31641930	31641931	+	Frame_Shift_Ins	INS	-	-	A																															gttgttactgatgcagagatINSacagcaaaagagtctacata																										TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr3:31641930_31641931insA	uc011axe.2	+	4	856_857	c.856_857insA	c.(856-858)tacfs	p.Y286fs	STT3B_uc003cer.1_Frame_Shift_Ins_p.Y286fs|STT3B_uc010hft.1_Frame_Shift_Ins_p.Y286fs	NM_178862	NP_849193	Q8TCJ2	STT3B_HUMAN	Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae) (STT3B), mRNA.	286					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						GATGCAGAGATACAGCAAAAGA	0.322													9	28	---	---	---	---						A	31641931	-	A	31641930	7	5	60	1	0	1	1	0	0	0	0	0	15333	1406	49	0	874	0	STT3B	3	31641930	Frame_Shift_Ins	INS	-	TCGA-DU-5854-01A-11D-1705-08		31641930	166380500	9	2534											
OR5H14	403273	broad.mit.edu	37	chr3	97868995	97868995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttatactatgggcccctcGccttcatgtatatgggctct	6	15	8	12	1	2	0	1	0	1	0	3	0	2	0	3	2	1	2	3	2	5	7	rs148799830		TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr3:97868995G>A	uc003dsg.1	+	0	766	c.766G>A	c.(766-768)Gcc>Acc	p.A256T		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA.	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGGGCCCCTCGCCTTCATGTA	0.413													18	39					0	0	0.520397	0	0	A	97868995	G	A	97868995	3	1	60	1	0	0	0	0	1	0	0	0	11160	1087	38	1	768	1	OR5H14	3	97868995	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08	66227065	97868995	100153435	10	2535											
KALRN	8997	broad.mit.edu	37	chr3	124393414	124393414	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccaggcagcatcctggcGcccctcaccaaagccacagc	9	4	9	19	1	1	0	1	0	0	0	3	0	3	0	6	2	3	2	6	2	1	0			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr3:124393414G>A	uc003ehg.3	+	48	7273	c.7146G>A	c.(7144-7146)gcG>gcA	p.A2382A	KALRN_uc003ehi.3_Silent_p.A722A|KALRN_uc003ehk.3_Silent_p.A685A|KALRN_uc011bjz.2_Silent_p.A473A	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2381	SH3 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCATCCTGGCGCCCCTCACCA	0.592													3	15					0	0	0.150653	0	0	A	124393414	G	A	124393414	2	1	60	1	0	0	0	0	0	0	0	1	7975	1074	38	1		1	KALRN	3	124393414	Silent	SNP	G	TCGA-DU-5854-01A-11D-1705-08	26524419	124393414	73629016	11	2536											
MECOM	2122	broad.mit.edu	37	chr3	168833251	168833251	+	Frame_Shift_Del	DEL	G	G	-																															gcaggtcttgattcgacgttGcttcctttttttcccccaaa																								rs141957464	byFrequency	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr3:168833251delG	uc011bpj.1	-	7	2812	c.2409delC	c.(2407-2409)agcfs	p.S803fs	MECOM_uc010hwk.1_Frame_Shift_Del_p.S638fs|MECOM_uc003ffj.3_Frame_Shift_Del_p.S680fs|MECOM_uc003ffi.3_Frame_Shift_Del_p.S615fs|MECOM_uc011bpi.1_Frame_Shift_Del_p.S616fs|MECOM_uc003ffn.3_Frame_Shift_Del_p.S615fs|MECOM_uc003ffk.2_Frame_Shift_Del_p.S615fs|MECOM_uc003ffl.2_Frame_Shift_Del_p.S775fs|MECOM_uc011bpk.1_Frame_Shift_Del_p.S615fs|MECOM_uc010hwn.2_Frame_Shift_Del_p.S803fs	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	24							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATTCGACGTTGCTTCCTTTTT	0.488													15	35	---	---	---	---						-	168833251	G	-	168833251	7	5	60	1	0	1	0	1	0	0	0	0	9422	1310	46	0	1350	0	MECOM	3	168833251	Frame_Shift_Del	DEL	G	TCGA-DU-5854-01A-11D-1705-08	44439837	168833251	29189179	12	2537											
ZNF518B	85460	broad.mit.edu	37	chr4	10445887	10445887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcctgccctacagagcgaCgatgtgcactatttgaagcc	10	9	10	12	2	0	2	0	1	0	1	0	4	0	2	3	0	6	1	3	0	3	3			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr4:10445887C>T	uc003gmn.3	-	2	2553	c.2066G>A	c.(2065-2067)cGt>cAt	p.R689H	ZNF518B_uc021xme.1_Missense_Mutation_p.R689H	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	689					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TACAGAGCGACGATGTGCACT	0.448													22	94					0	0	0.592651	0	0	T	10445887	C	T	10445887	3	4	60	1	0	0	0	0	1	0	0	0	17960	536	19	1	1162	1	ZNF518B	4	10445887	Missense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08		10445887	180708389	13	2538											
PDGFRA	5156	broad.mit.edu	37	chr4	55139758	55139758	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacaatgtctcaaacatcatCacggagatccactcccgaga	15	7	6	13	2	3	2	3	0	1	2	6	4	5	2	2	1	2	0	2	1	3	0			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr4:55139758C>T	uc003han.4	+	9	1750	c.1419C>T	c.(1417-1419)atC>atT	p.I473I	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Silent_p.I367I|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	473	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CAAACATCATCACGGAGATCC	0.498			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			26	30					0	0	0.706142	0	0	T	55139758	C	T	55139758	2	4	60	1	0	0	0	0	0	0	0	1	11661	816	29	3		3	PDGFRA	4	55139758	Silent	SNP	C	TCGA-DU-5854-01A-11D-1705-08	44693871	55139758	136014518	14	2539											
AGA	175	broad.mit.edu	37	chr4	178361475	178361475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctccaagttcatcaggaCttcctccaaagcctacagag	11	11	6	13	0	3	1	2	0	1	1	6	2	5	2	4	1	2	1	4	1	3	4			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr4:178361475C>T	uc003iuu.2	-	1	361	c.233G>A	c.(232-234)aGt>aAt	p.S78N	AGA_uc003iuw.3_Missense_Mutation_p.S78N|AGA_uc003iuv.2_Non-coding_Transcript	NM_000027	NP_000018	P20933	ASPG_HUMAN	Homo sapiens aspartylglucosaminidase (AGA), transcript variant 1, mRNA.	78					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		TTCATCAGGACTTCCTCCAAA	0.493													27	85					0	0	0.729181	0	0	T	178361475	C	T	178361475	3	4	60	1	0	0	0	0	1	0	0	0	365	565	20	3	839	3	AGA	4	178361475	Missense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08	123221717	178361475	12792801	15	2540											
GABRA1	2554	broad.mit.edu	37	chr5	161324340	161324340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtcaagaatagccttccCgctgctatttggaatcttta	10	14	7	10	1	2	1	1	0	1	1	3	2	3	2	2	1	2	2	2	1	6	6			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr5:161324340C>T	uc010jiw.3	+	10	1751	c.1283C>T	c.(1282-1284)cCg>cTg	p.P428L	GABRA1_uc010jix.3_Missense_Mutation_p.P428L|GABRA1_uc010jiy.3_Missense_Mutation_p.P428L|GABRA1_uc003lyx.4_Missense_Mutation_p.P428L|GABRA1_uc010jiz.3_Missense_Mutation_p.P428L|GABRA1_uc010jja.3_Missense_Mutation_p.P428L|GABRA1_uc010jjb.3_Missense_Mutation_p.P428L	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	428					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	ATAGCCTTCCCGCTGCTATTT	0.423													34	78					0	0	0.750413	0	0	T	161324340	C	T	161324340	3	4	60	1	0	0	0	0	1	0	0	0	6160	652	23	2	1317	2	GABRA1	5	161324340	Missense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08		161324340	19590920	16	2541											
RNF130	55819	broad.mit.edu	37	chr5	179393883	179393883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggtgagatccccgaagttCgaagtggctcaaggccaagg	11	6	15	9	2	1	1	1	1	0	1	3	5	2	1	3	4	0	2	3	4	4	1			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr5:179393883C>T	uc003mll.1	-	6	1480	c.1073G>A	c.(1072-1074)cGa>cAa	p.R358Q	RNF130_uc003mlm.1_Missense_Mutation_p.R358Q	NM_018434	NP_060904	Q86XS8	GOLI_HUMAN	Homo sapiens ring finger protein 130 (RNF130), mRNA.	358					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCCGAAGTTCGAAGTGGCTC	0.562													12	49					0	0	0.411799	0	0	T	179393883	C	T	179393883	3	4	60	1	0	0	0	0	1	0	0	0	13438	884	31	2	198	2	RNF130	5	179393883	Missense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08	18069543	179393883	1521377	17	2542											
FANCE	2178	broad.mit.edu	37	chr6	35427183	35427183	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgtgccaaatatacatacCctgtctgcagcgccctcctt	8	12	6	15	1	2	0	0	0	2	0	3	0	3	0	4	0	5	1	4	0	4	4			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr6:35427183C>A	uc003oko.1	+	5	1374	c.1189C>A	c.(1189-1191)Cct>Act	p.P397T	FANCE_uc010jvw.1_Missense_Mutation_p.P390T	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN	Homo sapiens Fanconi anemia, complementation group E (FANCE), mRNA.	397					DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						ATATACATACCCTGTCTGCAG	0.567			"N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				4	58					0.00909568	0.00949696	0.150653	1	0	A	35427183	C	A	35427183	3	1	60	1	0	0	0	0	1	0	0	0	5666	623	22	5	1211	5	FANCE	6	35427183	Missense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08		35427183	135687884	18	2543											
FAM83B	222584	broad.mit.edu	37	chr6	54735366	54735366	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaaatcttgacttaggcTggccatatgtgatgcccgga	9	11	10	11	1	1	2	0	2	1	0	2	3	2	3	3	3	1	1	3	3	3	3			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr6:54735366T>C	uc003pck.3	+	1	438	c.322T>C	c.(322-324)Tgg>Cgg	p.W108R		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	108										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TGACTTAGGCTGGCCATATGT	0.458													23	83					0	0	0.624587	0	0	C	54735366	T	C	54735366	3	2	60	1	0	0	0	0	1	0	0	0	5634	1580	55	4	324	4	FAM83B	6	54735366	Missense_Mutation	SNP	T	TCGA-DU-5854-01A-11D-1705-08	19308183	54735366	116379701	19	2544											
RFX6	222546	broad.mit.edu	37	chr6	117248565	117248565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatataactcccggccacCgtctagctatggcccatccc	8	9	6	18	2	1	0	0	0	1	0	4	0	4	0	6	2	2	1	6	2	4	4			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr6:117248565C>T	uc003pxm.3	+	16	2324	c.2261C>T	c.(2260-2262)cCg>cTg	p.P754L		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	754					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TCCCGGCCACCGTCTAGCTAT	0.517													7	35					0	0	0.27861	0	0	T	117248565	C	T	117248565	3	4	60	1	0	0	0	0	1	0	0	0	13267	652	23	2	2327	2	RFX6	6	117248565	Missense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08	62513199	117248565	53866502	20	2545											
LPA	4018	broad.mit.edu	37	chr6	161006128	161006128	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaatgtggtgtcatagaCgaccaagactgacatgttct	11	11	10	9	1	2	3	1	1	1	2	2	4	2	3	2	1	1	1	2	1	3	2			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr6:161006128C>T	uc003qtl.3	-	26	4359	c.4239G>A	c.(4237-4239)tcG>tcA	p.S1413S		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3921	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.S1413S(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GTGTCATAGACGACCAAGACT	0.448													31	143					0	0	0.717897	0	0	T	161006128	C	T	161006128	2	4	60	1	0	0	0	0	0	0	0	1	8903	523	19	1		1	LPA	6	161006128	Silent	SNP	C	TCGA-DU-5854-01A-11D-1705-08	43757563	161006128	10108939	21	2546											
ZNF804B	219578	broad.mit.edu	37	chr7	88965634	88965634	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tataaatcatgtagagggaaAtataaactcttactatgaca	18	12	6	5	0	2	2	1	1	1	1	2	3	2	3	0	1	2	1	0	1	10	7			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr7:88965634A>G	uc011khi.2	+	3	3876	c.3338A>G	c.(3337-3339)aAt>aGt	p.N1113S		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	1113						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GTAGAGGGAAATATAAACTCT	0.353										HNSCC(36;0.09)			16	68					0	0	0.479597	0	0	G	88965634	A	G	88965634	3	3	60	1	0	0	0	0	1	0	0	0	18168	101	4	3	3352	3	ZNF804B	7	88965634	Missense_Mutation	SNP	A	TCGA-DU-5854-01A-11D-1705-08		88965634	70173029	22	2547											
COL1A2	1278	broad.mit.edu	37	chr7	94038721	94038721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccaggcctctccggccccGttggacctcctgtaagtagc	5	10	10	16	2	1	0	0	0	1	0	4	1	3	1	7	3	1	3	7	3	2	4	rs145693444	byFrequency	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr7:94038721G>A	uc003ung.1	+	16	1351	c.880G>A	c.(880-882)Gtt>Att	p.V294I	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	294					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTCCGGCCCCGTTGGACCTCC	0.502										HNSCC(75;0.22)			28	76					0	0	0.769981	0	0	A	94038721	G	A	94038721	3	1	60	1	0	0	0	0	1	0	0	0	3678	1145	40	1	946	1	COL1A2	7	94038721	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08	5073087	94038721	65099942	23	2548											
PLXNA4	91584	broad.mit.edu	37	chr7	131859587	131859587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattcctgggaacagcacccGcatggtgtaagttctatagt	11	11	10	9	1	1	0	0	0	1	0	2	1	2	1	2	2	2	4	2	2	5	5			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr7:131859587G>A	uc003vra.4	-	20	4196	c.3967C>T	c.(3967-3969)Cgg>Tgg	p.R1323W		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1323						integral to membrane|intracellular|plasma membrane		p.R1323W(3)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AACAGCACCCGCATGGTGTAA	0.582													34	116					0	0	0.779181	0	0	A	131859587	G	A	131859587	3	1	60	1	0	0	0	0	1	0	0	0	12122	1086	38	1	1765	1	PLXNA4	7	131859587	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08	37820866	131859587	27279076	24	2549											
TRPV6	55503	broad.mit.edu	37	chr7	142573227	142573227	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacaagggtgtcacctgaagTagcttctgctgtaagagggt	10	11	13	7	0	2	2	1	1	1	1	2	2	2	2	1	2	3	4	1	2	5	4			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr7:142573227T>C	uc003wbx.2	-	7	1345	c.1116A>G	c.(1114-1116)ctA>ctG	p.L372L	TRPV6_uc003wbw.1_Silent_p.L158L|TRPV6_uc010lou.1_Silent_p.L243L	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	372					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TCACCTGAAGTAGCTTCTGCT	0.572													15	53					0	0	0.479597	0	0	C	142573227	T	C	142573227	2	2	60	1	0	0	0	0	0	0	0	1	16597	1625	57	3		3	TRPV6	7	142573227	Silent	SNP	T	TCGA-DU-5854-01A-11D-1705-08	10713640	142573227	16565436	25	2550											
ZNF282	8427	broad.mit.edu	37	chr7	148910879	148910879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccacgcgactcaatggacGgagagcttggattagactct	11	8	12	10	3	2	2	1	0	1	2	2	7	2	4	1	3	1	1	1	3	2	2			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr7:148910879G>A	uc003wfm.3	+	6	1258	c.1153G>A	c.(1153-1155)Gga>Aga	p.G385R	ZNF282_uc011kun.1_Missense_Mutation_p.G385R|ZNF282_uc003wfn.3_Missense_Mutation_p.G325R|ZNF282_uc003wfo.3_Intron	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	Homo sapiens zinc finger protein 282 (ZNF282), mRNA.	385					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CTCAATGGACGGAGAGCTTGG	0.542													3	30					0	0	0.115264	0	0	A	148910879	G	A	148910879	3	1	60	1	0	0	0	0	1	0	0	0	17816	1117	39	2	1179	2	ZNF282	7	148910879	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08	6337652	148910879	10227784	26	2551											
RNF32	140545	broad.mit.edu	37	chr7	156437272	156437272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttacatgatcttcaacttcGaaatctttcagttgcagatc	11	16	5	9	1	4	2	2	1	2	1	6	3	4	2	0	0	3	2	0	0	3	6			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr7:156437272G>A	uc003wmo.3	+	2	325	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	RNF32_uc010lql.1_Non-coding_Transcript|RNF32_uc010lqm.3_Missense_Mutation_p.R32Q|RNF32_uc003wmq.3_Missense_Mutation_p.R32Q|RNF32_uc003wmr.3_Missense_Mutation_p.R32Q|RNF32_uc003wms.3_Missense_Mutation_p.R32Q|RNF32_uc003wmu.3_Non-coding_Transcript|RNF32_uc003wmt.3_Missense_Mutation_p.R32Q	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	Homo sapiens ring finger protein 32 (RNF32), transcript variant 3, mRNA.	32						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CTTCAACTTCGAAATCTTTCA	0.328													12	40					0	0	0.38729	0	0	A	156437272	G	A	156437272	3	1	60	1	0	0	0	0	1	0	0	0	13488	1058	37	2	101	2	RNF32	7	156437272	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08	7526393	156437272	2701391	27	2552											
NRG1	3084	broad.mit.edu	37	chr8	32621577	32621577	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaggatgaggagtatgaaaCgacccaagagtacgagccag	15	4	15	7	2	0	3	0	2	0	1	0	8	0	6	2	3	3	2	2	3	4	2			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr8:32621577C>T	uc003xiv.2	+	11	2097	c.1580C>T	c.(1579-1581)aCg>aTg	p.T527M	NRG1_uc022ats.1_Missense_Mutation_p.T477M|NRG1_uc010lvo.2_3'UTR|NRG1_uc003xiu.2_Missense_Mutation_p.T532M|NRG1_uc003xiw.2_Missense_Mutation_p.T524M|NRG1_uc003xit.2_3'UTR|NRG1_uc010lvr.2_Missense_Mutation_p.T269M|NRG1_uc010lvs.2_Missense_Mutation_p.T269M|NRG1_uc010lvp.2_Missense_Mutation_p.T481M|NRG1_uc010lvq.2_Missense_Mutation_p.T457M|NRG1_uc011lbg.1_3'UTR|NRG1_uc011lbh.1_Missense_Mutation_p.T370M|NRG1_uc003xja.2_Missense_Mutation_p.T338M	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	527					Notch signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	ErbB-3 class receptor binding|cytokine activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GAGTATGAAACGACCCAAGAG	0.552													9	19					0	0	0.307466	0	0	T	32621577	C	T	32621577	3	4	60	1	0	0	0	0	1	0	0	0	10647	536	19	1	3351	1	NRG1	8	32621577	Missense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08		32621577	113742445	28	2553											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37729072	37729072	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtgccaggaggcgggcttGgactcccatttcccatcggt	6	10	13	12	2	0	0	0	0	0	0	3	2	2	2	3	5	1	1	3	5	0	2	rs146365728		TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr8:37729072G>T	uc003xkm.2	-	3	3304	c.3248C>A	c.(3247-3249)cCa>cAa	p.P1083Q	RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_Missense_Mutation_p.P412Q|RAB11FIP1_uc003xko.1_Missense_Mutation_p.P412Q|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	1083					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AGGCGGGCTTGGACTCCCATT	0.542											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	60	186					1.34159e-35	1.53634e-35	0.870114	1	0	T	37729072	G	T	37729072	3	4	60	1	0	0	0	0	1	0	0	0	12893	1348	47	5	615	5	RAB11FIP1	8	37729072	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08	5107495	37729072	108634950	29	2554											
RPL7	6129	broad.mit.edu	37	chr8	74205020	74205022	+	In_Frame_Del	DEL	CTT	CTT	-																															tctggcacagcaggaacctcCttcttcttctctctaacgtt																								rs151181576		TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr8:74205020_74205022delCTT	uc003xzg.3	-	1	47_49	c.25_27delAAG	c.(25-27)aagdel	p.K9del	RDH10_uc003xzi.3_5'Flank	NM_000971	NP_000962	P18124	RL7_HUMAN	Homo sapiens ribosomal protein L7 (RPL7), mRNA.	9	4 X 12 AA tandem repeats.				endocrine pancreas development|rRNA processing|ribosomal large subunit biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			CAGGAACCTCCTTCTTCTTCTCT	0.414													11	56	---	---	---	---						-	74205022	CTT	-	74205020	7	5	60	1	0	1	0	1	0	0	0	0	13599	680	24	0	739	0	RPL7	8	74205020	In_Frame_Del	DEL	CTT	TCGA-DU-5854-01A-11D-1705-08	36475948	74205020	72159002	30	2555											
JRK	8629	broad.mit.edu	37	chr8	143746154	143746154	+	Frame_Shift_Del	DEL	C	C	-																															ttctgcctcccttcccgctaCcccccagctggcggcctggc																										TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr8:143746154delC	uc003ywp.3	-	1	1838	c.1324delG	c.(1324-1326)gtafs	p.V442fs	JRK_uc003ywo.3_Frame_Shift_Del_p.V442fs|JRK_uc022bcb.1_Non-coding_Transcript|JRK_uc022bcc.1_5'Flank	NM_003724	NP_003715			Homo sapiens jerky homolog (mouse) (JRK), transcript variant 1, mRNA.													all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				cttcccgctaccccccagctg	0.637													5	6	---	---	---	---						-	143746154	C	-	143746154	7	5	60	1	0	1	0	1	0	0	0	0	7964	507	18	0	482	0	JRK	8	143746154	Frame_Shift_Del	DEL	C	TCGA-DU-5854-01A-11D-1705-08	69541134	143746154	2617868	31	2556											
RECK	8434	broad.mit.edu	37	chr9	36102223	36102223	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtatacctttggatacataCctcagtaagtacttttttgt	10	18	6	7	0	1	0	1	0	0	0	1	1	1	1	2	1	4	3	2	1	6	10			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr9:36102223C>A	uc003zyv.3	+	11	1517	c.1431C>A	c.(1429-1431)taC>taA	p.Y477*	RECK_uc003zyw.3_Nonsense_Mutation_p.Y349*|RECK_uc003zyx.3_Non-coding_Transcript	NM_021111	NP_066934	O95980	RECK_HUMAN	Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA.	477						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TGGATACATACCTCAGTAAGT	0.343													9	50					3.86212e-05	4.21862e-05	0.361761	1	0	A	36102223	C	A	36102223	4	1	60	1	0	0	0	0	0	1	0	0	13200	518	18	5	1477	5	RECK	9	36102223	Nonsense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08		36102223	105111208	32	2557											
C9orf71	169693	broad.mit.edu	37	chr9	71155606	71155606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggcagaagcaaataggccGcaatcaggctcccctgacag	13	4	12	12	1	1	2	1	1	0	1	2	3	2	2	3	3	1	4	3	3	4	1			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr9:71155606G>A	uc004agt.3	-	0	178	c.125C>T	c.(124-126)gCg>gTg	p.A42V		NM_153237	NP_694969	Q8N6L7	CI071_HUMAN	Homo sapiens chromosome 9 open reading frame 71 (C9orf71), mRNA.	42						integral to membrane				endometrium(1)|lung(2)|prostate(1)	4						CAAATAGGCCGCAATCAGGCT	0.537													9	20					0	0	0.335167	0	0	A	71155606	G	A	71155606	3	1	60	1	0	0	0	0	1	0	0	0	2494	1087	38	1	395	1	C9orf71	9	71155606	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08	35053383	71155606	70057825	33	2558											
LMX1B	4010	broad.mit.edu	37	chr9	129453250	129453250	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcagctacgcaagggcgaCgaattcgtgctcaaggaggg	10	5	16	10	5	1	0	1	0	0	0	2	3	1	1	0	4	3	4	0	4	4	2			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr9:129453250C>T	uc011maa.2	+	2	469	c.462C>T	c.(460-462)gaC>gaT	p.D154D	LMX1B_uc004bqi.3_Silent_p.D154D|LMX1B_uc004bqj.3_Silent_p.D154D	NM_001174146	NP_001167617	O60663	LMX1B_HUMAN	Homo sapiens LIM homeobox transcription factor 1, beta (LMX1B), transcript variant 3, mRNA.	131					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GCAAGGGCGACGAATTCGTGC	0.637									Nail-Patella Syndrome				4	23					0	0	0.150653	0	0	T	129453250	C	T	129453250	2	4	60	1	0	0	0	0	0	0	0	1	8862	535	19	1		1	LMX1B	9	129453250	Silent	SNP	C	TCGA-DU-5854-01A-11D-1705-08	58297644	129453250	11760181	34	2559											
RRAS2	22800	broad.mit.edu	37	chr11	14303174	14303174	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acccggacaagttcatggaaAgcttgatctacattcatcct	12	11	7	11	1	3	1	2	1	1	0	4	3	4	3	2	2	2	2	2	2	3	4			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr11:14303174A>C	uc001mlf.4	-	4	815	c.501T>G	c.(499-501)gcT>gcG	p.A167A	RRAS2_uc021qec.1_Silent_p.A90A|RRAS2_uc009ygq.3_Silent_p.A90A|RRAS2_uc010rco.2_Silent_p.A173A|RRAS2_uc021qed.1_Silent_p.A132A	NM_012250	NP_001170786	P62070	RRAS2_HUMAN	Homo sapiens related RAS viral (r-ras) oncogene homolog 2 (RRAS2), transcript variant 1, mRNA.	167						endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		GTTCATGGAAAGCTTGATCTA	0.348													18	64					0	0	0.557998	0	0	C	14303174	A	C	14303174	2	2	60	1	0	0	0	0	0	0	0	1	13677	59	3	5		5	RRAS2	11	14303174	Silent	SNP	A	TCGA-DU-5854-01A-11D-1705-08		14303174	120703342	35	2560											
OR4C6	219432	broad.mit.edu	37	chr11	55433000	55433000	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgtgatggcctatgacCgctacgtggccatctgtaag	8	11	11	11	2	2	2	1	2	1	0	2	2	2	2	3	2	1	2	3	2	3	3	rs146965889	byFrequency	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr11:55433000C>T	uc010rik.2	+	0	358	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GGCCTATGACCGCTACGTGGC	0.552													15	58					0	0	0.457914	0	0	T	55433000	C	T	55433000	3	4	60	1	0	0	0	0	1	0	0	0	11052	652	23	2	360	2	OR4C6	11	55433000	Missense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08	41129826	55433000	79573516	36	2561											
A2ML1	144568	broad.mit.edu	37	chr12	9004550	9004550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcccttactcagtagtccGtggggaatcctttcgtctta	6	15	8	12	2	3	0	1	0	2	0	7	1	5	1	3	2	1	1	3	2	4	4			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr12:9004550G>A	uc001quz.4	+	18	2503	c.2405G>A	c.(2404-2406)cGt>cAt	p.R802H	A2ML1_uc001qva.1_Missense_Mutation_p.R382H|A2ML1_uc010sgm.2_Missense_Mutation_p.R302H	NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	646						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TCAGTAGTCCGTGGGGAATCC	0.502													28	93					0	0	0.769981	0	0	A	9004550	G	A	9004550	3	1	60	1	0	0	0	0	1	0	0	0	5	1145	40	1	2479	1	A2ML1	12	9004550	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08		9004550	124847345	37	2562											
C12orf39	80763	broad.mit.edu	37	chr12	21684077	21684077	+	Frame_Shift_Del	DEL	A	A	-																															tttttttcttacagatgaagAaaaaaactttgatcaaacca																										TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr12:21684077delA	uc001rfa.1	+	5	450	c.299delA	c.(298-300)gaafs	p.E100fs	C12orf39_uc009ziv.1_Non-coding_Transcript|C12orf39_uc009ziw.1_Non-coding_Transcript	NM_030572	NP_085049	Q9BT56	SPXN_HUMAN	Homo sapiens chromosome 12 open reading frame 39 (C12orf39), mRNA.	100						extracellular region|nucleus|transport vesicle				endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						ACAGATGAAGAAAAAAACTTT	0.284													7	14	---	---	---	---						-	21684077	A	-	21684077	7	5	60	1	0	1	0	1	0	0	0	0	1684	246	9	0	321	0	C12orf39	12	21684077	Frame_Shift_Del	DEL	A	TCGA-DU-5854-01A-11D-1705-08	12679527	21684077	112167818	38	2563											
KRT3	3850	broad.mit.edu	37	chr12	53187985	53187985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgttgtccaggtagctcCgcaggtagttgatgtgattc	7	13	14	7	1	0	2	0	2	0	0	3	3	2	3	2	3	1	6	2	3	2	5			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr12:53187985C>T	uc001say.3	-	1	842	c.776G>A	c.(775-777)cGg>cAg	p.R259Q		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	259	Coil 1B.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CAGGTAGCTCCGCAGGTAGTT	0.532													29	111					0	0	0.740014	0	0	T	53187985	C	T	53187985	3	4	60	1	0	0	0	0	1	0	0	0	8466	652	23	2	1142	2	KRT3	12	53187985	Missense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08	31503908	53187985	80663910	39	2564											
MORN3	283385	broad.mit.edu	37	chr12	122091088	122091088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccttcaaacagctggcCgtggtccagatggaagaaac	13	6	12	10	1	1	2	1	0	0	2	2	4	2	3	3	3	4	1	3	3	4	1			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr12:122091088C>T	uc001uax.3	-	3	712	c.541G>A	c.(541-543)Ggc>Agc	p.G181S	MORN3_uc001uay.3_Intron	NM_173855	NP_776254	Q6PF18	MORN3_HUMAN	Homo sapiens MORN repeat containing 3 (MORN3), mRNA.	181										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		AACAGCTGGCCGTGGTCCAGA	0.607													8	33					0	0	0.307466	0	0	T	122091088	C	T	122091088	3	4	60	1	0	0	0	0	1	0	0	0	9709	652	23	2	189	2	MORN3	12	122091088	Missense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08	68903103	122091088	11760807	40	2565											
TMEM132B	114795	broad.mit.edu	37	chr12	126139203	126139203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctgccaagatatggggctgGgggattcacaggactttaga	10	10	14	7	0	2	2	1	0	1	2	2	4	2	4	1	5	1	1	1	5	3	4			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr12:126139203G>A	uc001uhe.1	+	8	3192	c.3184G>A	c.(3184-3186)Ggg>Agg	p.G1062R	TMEM132B_uc001uhf.1_Missense_Mutation_p.G574R|TMEM132B_uc021rgm.1_5'Flank	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	1062						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TATGGGGCTGGGGGATTCACA	0.463													16	54					0	0	0.500413	0	0	A	126139203	G	A	126139203	3	1	60	1	0	0	0	0	1	0	0	0	16043	1232	43	3	3218	3	TMEM132B	12	126139203	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08	4048115	126139203	7712692	41	2566											
LIG4	3981	broad.mit.edu	37	chr13	108863573	108863573	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaacacaaatctgcaaaaGgaacgtgagatgcaacagtt	17	8	9	7	1	1	2	0	2	1	1	1	4	1	3	0	1	5	3	0	1	6	2			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr13:108863573G>C	uc001vqn.3	-	1	317	c.44C>G	c.(43-45)cCt>cGt	p.P15R	LIG4_uc001vqo.3_Missense_Mutation_p.P15R|LIG4_uc010agf.3_Missense_Mutation_p.P15R|LIG4_uc001vqp.3_Missense_Mutation_p.P15R|LIG4_uc010agg.1_Intron|LIG4_uc021rmk.1_Missense_Mutation_p.P15R	NM_002312	NP_996820	P49917	DNLI4_HUMAN	Homo sapiens ligase IV, DNA, ATP-dependent (LIG4), transcript variant 1, mRNA.	15					DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|T cell differentiation in thymus|T cell receptor V(D)J recombination|cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to X-ray|response to gamma radiation|single strand break repair|somatic stem cell maintenance	DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|condensed chromosome|cytoplasm|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ATCTGCAAAAGGAACGTGAGA	0.358								Non-homologous end-joining					12	48					0	0	0.411799	0	0	C	108863573	G	C	108863573	3	2	60	1	0	0	0	0	1	0	0	0	8783	1000	35	5	2695	5	LIG4	13	108863573	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08		108863573	6306305	42	2567											
GABRB3	2562	broad.mit.edu	37	chr15	27184436	27184436	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaatgggaggtctcctcGtgcctcccacacagccaggc	9	7	11	14	1	1	1	0	1	1	0	4	2	2	2	4	3	2	0	4	3	2	0			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr15:27184436G>A	uc001zbb.3	-	0	251	c.148C>T	c.(148-150)Cga>Tga	p.R50*	GABRA5_uc001zbd.2_Intron|GABRA5_uc021sgi.1_Intron	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	0					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGGTCTCCTCGTGCCTCCCAC	0.582													18	41					0	0	0.557998	0	0	A	27184436	G	A	27184436	4	1	60	1	0	0	0	0	0	1	0	0	6168	1160	40	1		1	GABRB3	15	27184436	Nonsense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08		27184436	75346956	43	2568											
TRIM69	140691	broad.mit.edu	37	chr15	45050860	45050860	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacatgtgtccatggagttTctaaagctgcatcagttcct	10	13	8	10	0	2	0	1	0	1	0	4	1	4	1	2	1	3	4	2	1	3	3			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr15:45050860T>C	uc001zuf.2	+	4	1516	c.621T>C	c.(619-621)ttT>ttC	p.F207F	TRIM69_uc001zug.1_Silent_p.F207F|TRIM69_uc001zuh.1_Silent_p.F48F|TRIM69_uc001zui.1_Silent_p.F3F|TRIM69_uc010bdy.1_Silent_p.F3F	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN	Homo sapiens tripartite motif containing 69 (TRIM69), transcript variant a, mRNA.	207					apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		CCATGGAGTTTCTAAAGCTGC	0.463													14	37					0	0	0.479597	0	0	C	45050860	T	C	45050860	2	2	60	1	0	0	0	0	0	0	0	1	16539	1780	62	3		3	TRIM69	15	45050860	Silent	SNP	T	TCGA-DU-5854-01A-11D-1705-08	17866424	45050860	57480532	44	2569											
NCOR1	9611	broad.mit.edu	37	chr17	16029417	16029417	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggagtcttctttttcatctTtttcctcttcatctttcttt	3	25	3	10	0	8	0	2	0	6	0	9	1	9	1	1	1	0	0	1	1	0	8			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr17:16029417T>C	uc002gpo.3	-	14	1882	c.1613A>G	c.(1612-1614)aAa>aGa	p.K538R	NCOR1_uc002gpn.3_Missense_Mutation_p.K538R|NCOR1_uc002gpp.1_Missense_Mutation_p.K429R|NCOR1_uc002gpr.3_Missense_Mutation_p.K429R|NCOR1_uc002gps.2_Missense_Mutation_p.K547R|NCOR1_uc010cpb.2_Missense_Mutation_p.K548R|NCOR1_uc010coz.2_Missense_Mutation_p.K354R|NCOR1_uc010cpa.2_Missense_Mutation_p.K539R	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	538					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		tttttcatctttttcctcttc	0.264													2	7					0	0	0.115264	0	0	C	16029417	T	C	16029417	3	2	60	1	0	0	0	0	1	0	0	0	10235	1841	64	3	5837	3	NCOR1	17	16029417	Missense_Mutation	SNP	T	TCGA-DU-5854-01A-11D-1705-08		16029417	65165793	45	2570											
AP1S2	8905	broad.mit.edu	37	chr17	58179806	58179806	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtaattagttcattgtccTgatcctcaatagcacagcaa	12	12	8	9	0	2	1	2	1	0	0	4	1	4	1	2	1	2	4	2	1	5	5			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr17:58179806T>A	uc010wot.1	-	0	475	c.359A>T	c.(358-360)cAg>cTg	p.Q120L		NM_003916	NP_003907	P56377	AP1S2_HUMAN	Homo sapiens adaptor-related protein complex 1, sigma 2 subunit (AP1S2), mRNA.	73					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	AP-type membrane coat adaptor complex|Golgi membrane|coated pit|cytoplasmic vesicle membrane|cytosol|lysosomal membrane	protein transporter activity			large_intestine(1)	1	Hepatocellular(33;0.183)					TTCATTGTCCTGATCCTCAAT	0.368													11	259					0	0	0.38729	0	0	A	58179806	T	A	58179806	3	1	60	1	0	0	0	0	1	0	0	0	737	1595	55	5		5	AP1S2	17	58179806	Missense_Mutation	SNP	T	TCGA-DU-5854-01A-11D-1705-08	42150389	58179806	23015404	46	2571											
MUC16	94025	broad.mit.edu	37	chr19	9046352	9046352	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccaggagaatgagtcaaaGttggaacagttgtactggtt	13	11	12	5	0	1	2	1	1	0	1	1	4	1	3	1	3	3	4	1	3	5	5			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr19:9046352G>T	uc002mkp.3	-	4	35483	c.35279C>A	c.(35278-35280)aCt>aAt	p.T11760N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11762	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGAGTCAAAGTTGGAACAGT	0.478													14	69					1.5842e-08	1.78537e-08	0.435327	1	0	T	9046352	G	T	9046352	3	4	60	1	0	0	0	0	1	0	0	0	9973	1029	36	5	8564	5	MUC16	19	9046352	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08		9046352	50082631	47	2572											
MUC16	94025	broad.mit.edu	37	chr19	9090675	9090675	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccaaagtcttggctatGtgggtgctgggtatatccat	9	12	13	7	0	1	0	0	0	1	0	2	1	2	0	2	3	2	3	2	3	5	4			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr19:9090675G>T	uc002mkp.3	-	0	1344	c.1140C>A	c.(1138-1140)caC>caA	p.H380Q		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	380	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCTTGGCTATGTGGGTGCTGG	0.507													13	42					2.27111e-07	2.51951e-07	0.411799	1	0	T	9090675	G	T	9090675	3	4	60	1	0	0	0	0	1	0	0	0	9973	1368	48	5	42719	5	MUC16	19	9090675	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08	44323	9090675	50038308	48	2573											
SNPH	9751	broad.mit.edu	37	chr20	1286246	1286246	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgggacagaccctgagtcaGgggacaggtgcccagagctg	9	5	17	10	0	1	3	1	1	0	2	1	5	1	5	2	4	2	1	2	4	0	0	rs140720029		TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr20:1286246G>T	uc002wet.3	+	6	1846	c.1165G>T	c.(1165-1167)Ggg>Tgg	p.G389W	SNPH_uc002wes.3_Missense_Mutation_p.G345W	NM_014723	NP_055538	O15079	SNPH_HUMAN	Homo sapiens syntaphilin (SNPH), mRNA.	345					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CCCTGAGTCAGGGGACAGGTG	0.622													4	91					0.00909568	0.00949696	0.150653	1	0	T	1286246	G	T	1286246	3	4	60	1	0	0	0	0	1	0	0	0	14850	1000	35	5	1047	5	SNPH	20	1286246	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08		1286246	61739274	49	2574											
RIPK4	54101	broad.mit.edu	37	chr21	43161994	43161994	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgagcagcagccacttggcGcactcctcttgcccggcctc	5	9	10	17	2	1	1	0	1	1	0	3	1	2	1	4	2	4	3	4	2	0	3			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr21:43161994G>A	uc002yzn.1	-	7	1407	c.1359C>T	c.(1357-1359)tgC>tgT	p.C453C		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	453						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.C453C(2)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCCACTTGGCGCACTCCTCTT	0.657													31	69					0	0	0.779181	0	0	A	43161994	G	A	43161994	2	1	60	1	0	0	0	0	0	0	0	1	13383	1079	38	1		1	RIPK4	21	43161994	Silent	SNP	G	TCGA-DU-5854-01A-11D-1705-08		43161994	4967901	50	2575											
MXRA5	25878	broad.mit.edu	37	chrX	3228242	3228242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagcgtccaggagaaacGtccctgcccagccccgggag	8	3	16	14	3	0	1	0	0	0	1	2	4	2	3	5	4	4	0	5	4	1	0			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chrX:3228242G>A	uc004crg.4	-	6	8159	c.8002C>T	c.(8002-8004)Cgt>Tgt	p.R2668C		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2668	Ig-like C2-type 11.					extracellular region		p.R2668P(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAGGAGAAACGTCCCTGCCCA	0.592													29	56					0	0	0.750413	0	0	A	3228242	G	A	3228242	3	1	60	1	0	0	0	0	1	0	0	0	10003	1145	40	1	488	1	MXRA5	23	3228242	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08		3228242	152042318	51	2576											
HDX	139324	broad.mit.edu	37	chrX	83724443	83724443	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttattggcagatgtccaagaAgactgctggcttgagggtcg	9	11	14	7	1	0	4	0	1	0	3	2	4	1	4	1	3	1	3	1	3	3	3			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chrX:83724443A>C	uc011mqv.2	-	3	535	c.288T>G	c.(286-288)tcT>tcG	p.S96S	HDX_uc004eel.2_Silent_p.S38S|HDX_uc004eek.2_Silent_p.S96S	NM_001177479	NP_001170949	Q7Z353	HDX_HUMAN	Homo sapiens highly divergent homeobox (HDX), transcript variant 1, mRNA.	96						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ATGTCCAAGAAGACTGCTGGC	0.428													38	84					0	0	0.812448	0	0	C	83724443	A	C	83724443	2	2	60	1	0	0	0	0	0	0	0	1	7026	59	3	5		5	HDX	23	83724443	Silent	SNP	A	TCGA-DU-5854-01A-11D-1705-08	80496201	83724443	71546117	52	2577											
CXorf57	55086	broad.mit.edu	37	chrX	105855370	105855370	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgcagggctagattggccGaaccctgagaggaatcgggc	10	6	15	10	2	0	2	0	1	0	2	1	5	0	3	2	4	2	2	2	4	3	2			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chrX:105855370G>A	uc004emi.4	+	0	211	c.60G>A	c.(58-60)ccG>ccA	p.P20P	CXorf57_uc004emj.4_Silent_p.P20P|CXorf57_uc004emh.2_Silent_p.P20P	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.	20								p.P20P(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TAGATTGGCCGAACCCTGAGA	0.572													27	85					0	0	0.681144	0	0	A	105855370	G	A	105855370	2	1	60	1	0	0	0	0	0	0	0	1	4113	1045	37	2		2	CXorf57	23	105855370	Silent	SNP	G	TCGA-DU-5854-01A-11D-1705-08	22130927	105855370	49415190	53	2578											
SAGE1	55511	broad.mit.edu	37	chrX	134994995	134994995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcagcaactcgagaaggCgcttaaagaaatagattccc	16	8	8	9	2	1	3	1	0	0	3	3	4	2	3	1	1	2	2	1	1	7	4	rs139129211	by1000genomes	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chrX:134994995C>T	uc004ezh.3	+	19	2821	c.2654C>T	c.(2653-2655)gCg>gTg	p.A885V	SAGE1_uc010nry.1_3'UTR|SAGE1_uc011mvv.2_Missense_Mutation_p.A509V	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	885										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CTCGAGAAGGCGCTTAAAGAA	0.368													7	31					0	0	0.248553	0	0	T	134994995	C	T	134994995	3	4	60	1	0	0	0	0	1	0	0	0	13809	768	27	1	2728	1	SAGE1	23	134994995	Missense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08	29139625	134994995	20275565	54	2579											
PNMA5	114824	broad.mit.edu	37	chrX	152159963	152159963	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagactgccttggcattGtcttccctcctgaacattct	8	14	7	12	0	2	3	0	2	2	1	4	3	4	3	3	1	2	1	3	1	2	4			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chrX:152159963G>A	uc022chn.1	-	0	180	c.180C>T	c.(178-180)gaC>gaT	p.D60D	PNMA5_uc010ntx.3_Silent_p.D60D|PNMA5_uc010ntw.3_Silent_p.D60D|PNMA5_uc004fgy.4_Silent_p.D60D|PNMA5_uc022chm.1_Silent_p.D60D	NM_052926	NP_443158	Q96PV4	PNMA5_HUMAN	Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA.	60					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ccttggcattgtcttccctcc	0.522													44	106					0	0	0.840704	0	0	A	152159963	G	A	152159963	2	1	60	1	0	0	0	0	0	0	0	1	12156	1368	48	3		3	PNMA5	23	152159963	Silent	SNP	G	TCGA-DU-5854-01A-11D-1705-08	17164968	152159963	3110597	55	2580											
MTCP1	4515	broad.mit.edu	37	chrX	154293907	154293907	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtaccattaaatgatgcTgtatctgccacaagcgagag	12	11	10	8	1	1	2	0	1	1	1	1	3	1	2	2	0	4	3	2	0	5	3			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chrX:154293907T>C	uc004fmz.2	-	2	889	c.263A>G	c.(262-264)cAg>cGg	p.Q88R	MTCP1NB_uc004fmy.3_Intron	NM_001018025	NP_001018025	P56278	MTCP1_HUMAN	Homo sapiens mature T-cell proliferation 1 (MTCP1), nuclear gene encoding mitochondrial protein, mRNA.	88					cell proliferation					large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	5	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TAAATGATGCTGTATCTGCCA	0.453			T	TRA@	T cell prolymphocytic leukemia								30	74					0	0	0.760397	0	0	C	154293907	T	C	154293907	3	2	60	1	0	0	0	0	1	0	0	0	9915	1580	55	4	68	4	MTCP1	23	154293907	Missense_Mutation	SNP	T	TCGA-DU-5854-01A-11D-1705-08	2133944	154293907	976653	56	2581											
SCMH1	22955	broad.mit.edu	37	chr1	41579187	41579187	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagaagttgtgggaaggCgatggtggctcctagatgag	10	10	17	4	1	0	4	0	2	0	2	1	6	1	5	1	4	0	2	1	4	4	3			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr1:41579187C>T	uc001cgo.3	-	7	852	c.483G>A	c.(481-483)tcG>tcA	p.S161S	SCMH1_uc010ojr.2_Intron|SCMH1_uc001cgp.3_Silent_p.S100S|SCMH1_uc001cgr.3_Silent_p.S100S|SCMH1_uc001cgq.3_Silent_p.S114S|SCMH1_uc001cgs.3_Silent_p.S171S|SCMH1_uc001cgt.3_Silent_p.S100S|SCMH1_uc010ojs.1_Non-coding_Transcript	NM_001031694	NP_001165692	Q96GD3	SCMH1_HUMAN	Homo sapiens sex comb on midleg homolog 1 (Drosophila) (SCMH1), transcript variant 1, mRNA.	161					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				TGTGGGAAGGCGATGGTGGCT	0.443													13	20					0	0	0.435327	0	0	T	41579187	C	T	41579187	2	4	61	1	0	0	0	0	0	0	0	1	13908	755	27	1		1	SCMH1	1	41579187	Silent	SNP	C	TCGA-DU-5855-01A-11D-1705-08		41579187	207671434	1	2582											
PTPRF	5792	broad.mit.edu	37	chr1	44079328	44079328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccccatcaccgacctggCggacaacatcgagcgcctca	10	5	8	18	4	2	0	2	0	0	0	4	3	3	1	5	2	2	0	5	2	1	0			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr1:44079328C>T	uc001cjr.3	+	22	4353	c.4013C>T	c.(4012-4014)gCg>gTg	p.A1338V	PTPRF_uc001cjs.3_Missense_Mutation_p.A1329V|PTPRF_uc001cju.3_Missense_Mutation_p.A727V|PTPRF_uc009vwt.3_Missense_Mutation_p.A898V|PTPRF_uc001cjv.3_Missense_Mutation_p.A809V|PTPRF_uc001cjw.3_Missense_Mutation_p.A564V	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1338					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACCGACCTGGCGGACAACATC	0.597													19	42					0	0	0.539581	0	0	T	44079328	C	T	44079328	3	4	61	1	0	0	0	0	1	0	0	0	12801	768	27	1	4095	1	PTPRF	1	44079328	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	2500141	44079328	205171293	2	2583											
HRNR	388697	broad.mit.edu	37	chr1	152188371	152188371	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgagctagatccgtgttGttcacccctagatgactgtc	8	12	9	12	1	1	4	1	2	0	2	3	4	2	4	4	0	1	3	4	0	2	4			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr1:152188371G>T	uc001ezt.1	-	2	5810	c.5734C>A	c.(5734-5736)Caa>Aaa	p.Q1912K		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	1912					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCGTGTTGTTCACCCCTA	0.557													119	1647					7.65386e-43	8.61059e-43	0.870114	1	0	T	152188371	G	T	152188371	3	4	61	1	0	0	0	0	1	0	0	0	7359	1386	48	5	2822	5	HRNR	1	152188371	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08	108109043	152188371	97062250	3	2584											
CFHR5	81494	broad.mit.edu	37	chr1	196973949	196973949	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacatgcagaaataaacagTggtcagaaccaccaagatgc	18	6	8	9	0	1	3	1	0	0	3	1	3	1	3	2	1	5	1	2	1	6	2			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr1:196973949T>C	uc001gts.4	+	8	1617	c.1489T>C	c.(1489-1491)Tgg>Cgg	p.W497R		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	497	Sushi 8.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AAATAAACAGTGGTCAGAACC	0.378													24	51					0	0	0.667858	0	0	C	196973949	T	C	196973949	3	2	61	1	0	0	0	0	1	0	0	0	3288	1696	59	3	1523	3	CFHR5	1	196973949	Missense_Mutation	SNP	T	TCGA-DU-5855-01A-11D-1705-08	44785578	196973949	52276672	4	2585											
TMEM9	252839	broad.mit.edu	37	chr1	201112999	201112999	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtatatgcatccggctttcgGatcagagggtccaccagcat	9	10	11	11	2	1	1	1	0	0	1	4	2	3	2	3	3	2	4	3	3	2	3			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr1:201112999G>C	uc010ppo.2	-	4	519	c.423C>G	c.(421-423)atC>atG	p.I141M	TMEM9_uc001gvx.3_Missense_Mutation_p.I116M|TMEM9_uc001gvy.3_Missense_Mutation_p.I116M|TMEM9_uc001gvz.3_Missense_Mutation_p.I119M|TMEM9_uc001gwa.3_Missense_Mutation_p.I116M	NM_016456	NP_057540	Q9P0T7	TMEM9_HUMAN	Homo sapiens transmembrane protein 9 (TMEM9), mRNA.	116					transport	integral to membrane|late endosome membrane|lysosomal membrane				liver(1)|lung(1)|stomach(1)	3		Breast(1374;0.000301)				CCGGCTTTCGGATCAGAGGGT	0.572													4	42					0	0	0.184627	0	0	C	201112999	G	C	201112999	3	2	61	1	0	0	0	0	1	0	0	0	16214	1164	41	5	211	5	TMEM9	1	201112999	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08	4139050	201112999	48137622	5	2586											
MDM4	4194	broad.mit.edu	37	chr1	204518349	204518349	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcagattgttcaaagttaAcccattctctctccacgtct	10	15	4	12	1	5	1	2	0	3	1	7	1	5	1	2	0	1	2	2	0	2	5			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr1:204518349A>C	uc001hba.3	+	10	1178	c.1012A>C	c.(1012-1014)Acc>Ccc	p.T338P	MDM4_uc001hbd.2_Non-coding_Transcript|MDM4_uc010pqw.2_Non-coding_Transcript|MDM4_uc010pqx.2_Missense_Mutation_p.T211P|MDM4_uc001hay.2_Missense_Mutation_p.T288P|MDM4_uc021phx.1_Intron|MDM4_uc001hbb.3_Missense_Mutation_p.T211P|MDM4_uc010pqy.2_Intron|MDM4_uc001hbc.3_Non-coding_Transcript|MDM4_uc009xbe.1_Non-coding_Transcript	NM_002393	NP_002384	O15151	MDM4_HUMAN	Homo sapiens Mdm4 p53 binding protein homolog (mouse) (MDM4), transcript variant 1, mRNA.	338					G0 to G1 transition|apoptosis|cell proliferation|cellular response to hypoxia|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TTCAAAGTTAACCCATTCTCT	0.428			A		"GBM, bladder, retinoblastoma"								15	116					0	0	0.539581	0	0	C	204518349	A	C	204518349	3	2	61	1	0	0	0	0	1	0	0	0	9414	43	2	5	1050	5	MDM4	1	204518349	Missense_Mutation	SNP	A	TCGA-DU-5855-01A-11D-1705-08	3405350	204518349	44732272	6	2587											
HHIPL2	79802	broad.mit.edu	37	chr1	222717481	222717481	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgggagattccggagaggCgtctgggtgttttcggcgtc	4	10	17	10	5	1	2	0	0	1	2	4	4	2	2	2	5	0	1	2	5	0	3			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr1:222717481C>T	uc001hnh.1	-	1	430	c.372G>A	c.(370-372)acG>acA	p.T124T		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	124					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TCCGGAGAGGCGTCTGGGTGT	0.597													34	140					0	0	0.804634	0	0	T	222717481	C	T	222717481	2	4	61	1	0	0	0	0	0	0	0	1	7094	755	27	1		1	HHIPL2	1	222717481	Silent	SNP	C	TCGA-DU-5855-01A-11D-1705-08	18199132	222717481	26533140	7	2588											
YSK4	80122	broad.mit.edu	37	chr2	135744754	135744754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttatgctggttttatgcatgGtaggcttaatgggaccttca	8	16	11	6	0	1	0	1	0	0	0	1	1	1	1	1	4	2	5	1	4	4	6			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr2:135744754G>A	uc002tue.1	-	6	1719	c.1688C>T	c.(1687-1689)aCc>aTc	p.T563I	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.T450I|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.T291I|YSK4_uc002tui.4_Missense_Mutation_p.T580I	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	563							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		TTTATGCATGGTAGGCTTAAT	0.423													16	97					0	0	0.479597	0	0	A	135744754	G	A	135744754	3	1	61	1	0	0	0	0	1	0	0	0	17492	1261	44	3	2314	3	YSK4	2	135744754	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08		135744754	107454619	8	2589											
IFIH1	64135	broad.mit.edu	37	chr2	163134056	163134056	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatcatcttctatgactgcaAacttcttatctttctcttca	9	19	2	11	0	7	1	2	1	5	0	8	1	7	1	0	0	2	1	0	0	4	7			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr2:163134056A>C	uc002uce.3	-	9	2135	c.1913T>G	c.(1912-1914)tTt>tGt	p.F638C		NM_022168	NP_071451	Q9BYX4	IFIH1_HUMAN	Homo sapiens interferon induced with helicase C domain 1 (IFIH1), mRNA.	638					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TATGACTGCAAACTTCTTATC	0.353													17	18					0	0	0.520397	0	0	C	163134056	A	C	163134056	3	2	61	1	0	0	0	0	1	0	0	0	7520	14	1	5	1192	5	IFIH1	2	163134056	Missense_Mutation	SNP	A	TCGA-DU-5855-01A-11D-1705-08	27389302	163134056	80065317	9	2590											
TTN	7273	broad.mit.edu	37	chr2	179470362	179470362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggactgccaccattactgCggggctctttccagtcaagt	7	11	11	12	1	2	0	1	0	1	0	3	1	3	1	3	3	3	1	3	3	2	2			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr2:179470362C>T	uc021vsy.1	-	227	46181	c.45956G>A	c.(45955-45957)cGc>cAc	p.R15319H	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R9014H|TTN_uc021vta.1_Missense_Mutation_p.R8947H|TTN_uc021vtb.1_Missense_Mutation_p.R8822H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16246	Ig-like 97.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S15318*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCATTACTGCGGGGCTCTTT	0.473													5	87					0	0	0.184627	0	0	T	179470362	C	T	179470362	3	4	61	1	0	0	0	0	1	0	0	0	16732	768	27	1	54369	1	TTN	2	179470362	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	16336306	179470362	63729011	10	2591											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								22	47					0	0	0.639603	0	0	T	209113112	C	T	209113112	3	4	61	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	29642750	209113112	34086261	11	2592											
FLNB	2317	broad.mit.edu	37	chr3	58094210	58094210	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatacgggccaggtttggAgaaatctggatgcattgtca	11	10	13	7	1	2	1	1	0	1	1	2	3	2	2	1	4	3	3	1	4	2	3			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr3:58094210A>G	uc003djj.2	+	12	2132	c.1967A>G	c.(1966-1968)gAg>gGg	p.E656G	FLNB_uc010hne.2_Missense_Mutation_p.E656G|FLNB_uc003djk.2_Missense_Mutation_p.E656G|FLNB_uc010hnf.2_Missense_Mutation_p.E656G|FLNB_uc003djl.2_Missense_Mutation_p.E487G|FLNB_uc003djm.2_Missense_Mutation_p.E487G	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	656					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCAGGTTTGGAGAAATCTGGA	0.448													12	19					0	0	0.411799	0	0	G	58094210	A	G	58094210	3	3	61	1	0	0	0	0	1	0	0	0	5934	304	11	4	2017	4	FLNB	3	58094210	Missense_Mutation	SNP	A	TCGA-DU-5855-01A-11D-1705-08		58094210	139928220	12	2593											
LEKR1	389170	broad.mit.edu	37	chr3	156763496	156763496	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcaaatgagactagacAgagactggctgccattctta	13	10	9	9	0	2	3	1	1	1	3	2	5	2	3	1	1	2	2	1	1	3	4			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr3:156763496A>G	uc021xgh.1	+	12	2150	c.2036A>G	c.(2035-2037)cAg>cGg	p.Q679R	LEKR1_uc003fba.1_Non-coding_Transcript	NM_001004316	NP_001004316	D3DNK7	D3DNK7_HUMAN	Homo sapiens leucine, glutamate and lysine rich 1 (LEKR1), transcript variant 1, mRNA.	0										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GAGACTAGACAGAGACTGGCT	0.547													30	53					0	0	0.740014	0	0	G	156763496	A	G	156763496	3	3	61	1	0	0	0	0	1	0	0	0	8717	188	7	4	2082	4	LEKR1	3	156763496	Missense_Mutation	SNP	A	TCGA-DU-5855-01A-11D-1705-08	98669286	156763496	41258934	13	2594											
IGF2BP2	10644	broad.mit.edu	37	chr3	185393095	185393095	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggacttacgttaacagccaGcatatcattttcaaaggcct	12	11	8	10	1	2	0	2	0	0	0	2	1	2	1	2	2	4	2	2	2	4	5			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr3:185393095G>A	uc003fpo.3	-	8	1139	c.1060C>T	c.(1060-1062)Ctg>Ttg	p.L354L	IGF2BP2_uc010hyi.3_Silent_p.L297L|IGF2BP2_uc010hyj.3_Silent_p.L291L|IGF2BP2_uc010hyk.3_Silent_p.L218L|IGF2BP2_uc010hyl.3_Silent_p.L291L|IGF2BP2_uc003fpp.3_Silent_p.L354L|IGF2BP2_uc003fpq.3_Silent_p.L359L	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 2 (IGF2BP2), transcript variant 1, mRNA.	354					anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TTAACAGCCAGCATATCATTT	0.463													15	123					0	0	0.500413	0	0	A	185393095	G	A	185393095	2	1	61	1	0	0	0	0	0	0	0	1	7574	962	34	3		3	IGF2BP2	3	185393095	Silent	SNP	G	TCGA-DU-5855-01A-11D-1705-08	28629599	185393095	12629335	14	2595											
ANK2	287	broad.mit.edu	37	chr4	114280346	114280346	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctgccacctgttgagacCgagcactcagttcctgagga	10	9	10	12	1	2	2	1	2	1	1	3	5	3	3	4	1	2	3	4	1	1	2			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr4:114280346C>T	uc003ibe.4	+	37	10672	c.10572C>T	c.(10570-10572)acC>acT	p.T3524T	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Silent_p.T3539T	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3491					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTGTTGAGACCGAGCACTCAG	0.473													16	66					0	0	0.500413	0	0	T	114280346	C	T	114280346	2	4	61	1	0	0	0	0	0	0	0	1	621	639	23	2		2	ANK2	4	114280346	Silent	SNP	C	TCGA-DU-5855-01A-11D-1705-08		114280346	76873930	15	2596											
SEC24D	9871	broad.mit.edu	37	chr4	119649799	119649799	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggtttcccacttcaggcaGcaatgtcttagatttaagaa	11	13	9	8	0	2	2	1	0	1	2	3	2	3	2	1	2	1	3	1	2	4	5			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr4:119649799G>A	uc003ici.4	-	21	3147	c.2875C>T	c.(2875-2877)Ctg>Ttg	p.L959L	SEC24D_uc003ich.4_Non-coding_Transcript|SEC24D_uc003icj.4_Silent_p.L960L	NM_014822	NP_055637	O94855	SC24D_HUMAN	Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA.	959					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						ACTTCAGGCAGCAATGTCTTA	0.303													9	44					0	0	0.335167	0	0	A	119649799	G	A	119649799	2	1	61	1	0	0	0	0	0	0	0	1	13997	962	34	3		3	SEC24D	4	119649799	Silent	SNP	G	TCGA-DU-5855-01A-11D-1705-08	5369453	119649799	71504477	16	2597											
GFM2	84340	broad.mit.edu	37	chr5	74034187	74034187	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgttaccagcagtcaatgAagggatttctacatgttggt	12	13	10	6	0	2	1	1	1	1	0	2	2	2	2	1	2	3	3	1	2	5	4			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr5:74034187A>C	uc010izj.1	-	14	1698	c.1372T>G	c.(1372-1374)Tca>Gca	p.S458A	GFM2_uc003kdh.1_Missense_Mutation_p.S426A|GFM2_uc003kdi.1_Missense_Mutation_p.S379A|GFM2_uc010izk.1_Non-coding_Transcript|GFM2_uc003kdj.1_Missense_Mutation_p.S426A	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	Homo sapiens G elongation factor, mitochondrial 2 (GFM2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	426					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		GCAGTCAATGAAGGGATTTCT	0.333													74	74					0	0	0.870114	0	0	C	74034187	A	C	74034187	3	2	61	1	0	0	0	0	1	0	0	0	6342	246	9	5	1127	5	GFM2	5	74034187	Missense_Mutation	SNP	A	TCGA-DU-5855-01A-11D-1705-08		74034187	106881073	17	2598											
PCDHAC2	56134	broad.mit.edu	37	chr5	140308171	140308171	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcccagaaatggttctgTcccagtggaaattgtgcccc	8	11	10	12	0	1	1	0	0	1	1	2	2	2	2	4	2	2	1	4	2	2	3			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr5:140308171T>C	uc003lih.2	+	0	1870	c.1694T>C	c.(1693-1695)gTc>gCc	p.V565A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.V565A	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	589	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGGTTCTGTCCCAGTGGAA	0.473													7	97					0	0	0.27861	0	0	C	140308171	T	C	140308171	3	2	61	1	0	0	0	0	1	0	0	0	11533	1667	58	3		3	PCDHAC2	5	140308171	Missense_Mutation	SNP	T	TCGA-DU-5855-01A-11D-1705-08	66273984	140308171	40607089	18	2599											
PCDH12	51294	broad.mit.edu	37	chr5	141335138	141335138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcctcttgggctgctggCggtaggtggactcggcctcc	2	9	18	12	2	1	0	0	0	1	0	3	1	2	1	3	8	1	3	3	8	1	2	rs139572685		TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr5:141335138C>T	uc003llx.3	-	0	3490	c.2279G>A	c.(2278-2280)cGc>cAc	p.R760H		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	760					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTGCTGGCGGTAGGTGGA	0.587													3	41					0	0	0.150653	0	0	T	141335138	C	T	141335138	3	4	61	1	0	0	0	0	1	0	0	0	11510	768	27	1	1291	1	PCDH12	5	141335138	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	1026967	141335138	39580122	19	2600											
STK10	6793	broad.mit.edu	37	chr5	171520604	171520604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacccaaggtctccagggCgctgctgttgggccggctct	4	8	13	16	2	2	0	0	0	2	0	3	0	2	0	4	4	1	4	4	4	1	1			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr5:171520604C>T	uc003mbo.1	-	8	1666	c.1366G>A	c.(1366-1368)Gcc>Acc	p.A456T		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	456							ATP binding|protein serine/threonine kinase activity	p.A456A(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTCTCCAGGGCGCTGCTGTTG	0.647													8	46					0	0	0.335167	0	0	T	171520604	C	T	171520604	3	4	61	1	0	0	0	0	1	0	0	0	15285	768	27	1	1584	1	STK10	5	171520604	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	30185466	171520604	9394656	20	2601											
CLDN4	1364	broad.mit.edu	37	chr7	73245693	73245693	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagggcctatggatgaactgCgtggtgcagagcaccggcca	9	6	16	10	2	0	2	0	1	0	1	0	4	0	3	3	4	4	2	3	4	2	1			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr7:73245693C>T	uc003tzi.4	+	0	501	c.162C>T	c.(160-162)tgC>tgT	p.C54C	CLDN4_uc003tzh.1_Non-coding_Transcript	NM_001305	NP_001296	O14493	CLD4_HUMAN	Homo sapiens claudin 4 (CLDN4), mRNA.	54					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				GGATGAACTGCGTGGTGCAGA	0.642													3	40					0	0	0.150653	0	0	T	73245693	C	T	73245693	2	4	61	1	0	0	0	0	0	0	0	1	3487	776	27	1		1	CLDN4	7	73245693	Silent	SNP	C	TCGA-DU-5855-01A-11D-1705-08		73245693	85892970	21	2602											
PCLO	27445	broad.mit.edu	37	chr7	82579784	82579784	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accatcagactgaacggtgtAccatccttggctttgtggta	9	12	10	10	1	1	2	1	1	0	1	2	2	2	2	3	3	2	3	3	3	3	4			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr7:82579784A>G	uc003uhx.2	-	5	10409	c.10120T>C	c.(10120-10122)Tac>Cac	p.Y3374H	PCLO_uc003uhv.2_Missense_Mutation_p.Y3374H|PCLO_uc010lec.3_Missense_Mutation_p.Y339H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3305					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGAACGGTGTACCATCCTTGG	0.463													3	46					0	0	0.115264	0	0	G	82579784	A	G	82579784	3	3	61	1	0	0	0	0	1	0	0	0	11583	391	14	3	5405	3	PCLO	7	82579784	Missense_Mutation	SNP	A	TCGA-DU-5855-01A-11D-1705-08	9334091	82579784	76558879	22	2603											
LMTK2	22853	broad.mit.edu	37	chr7	97823142	97823142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaggtctgaggaggtcccggGaacctccccatccgccttgg	7	7	13	14	2	1	1	0	1	1	0	4	3	4	3	6	5	1	0	6	5	2	1			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr7:97823142G>A	uc003upd.2	+	10	3658	c.3365G>A	c.(3364-3366)gGa>gAa	p.G1122E		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	1122					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GAGGTCCCGGGAACCTCCCCA	0.607													28	37					0	0	0.706142	0	0	A	97823142	G	A	97823142	3	1	61	1	0	0	0	0	1	0	0	0	8859	1174	41	3	3407	3	LMTK2	7	97823142	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08	15243358	97823142	61315521	23	2604											
TAF6	6878	broad.mit.edu	37	chr7	99711904	99711904	+	Frame_Shift_Del	DEL	C	C	-																															cggagaccctggcagaggaaCggggcaggcagaagaaaaag																										TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr7:99711904delC	uc003uth.3	-	0	237	c.100delG	c.(100-102)gttfs	p.V34fs	TAF6_uc003utg.3_5'Flank|TAF6_uc003utm.3_Intron|TAF6_uc003uti.3_Intron|TAF6_uc003utk.3_Intron|TAF6_uc011kji.2_Intron	NM_139315	NP_647476	P49848	TAF6_HUMAN	Homo sapiens TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa (TAF6), transcript variant 2, mRNA.	655					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCAGAGGAACGGGGCAGGCA	0.567													18	14	---	---	---	---						-	99711904	C	-	99711904	7	5	61	1	0	1	0	1	0	0	0	0	15527	551	19	0		0	TAF6	7	99711904	Frame_Shift_Del	DEL	C	TCGA-DU-5855-01A-11D-1705-08	1888762	99711904	59426759	24	2605											
COG5	10466	broad.mit.edu	37	chr7	107204267	107204267	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccgtcctgcagaagttcccgGactgtagctgcagccgctcc	6	8	11	16	3	0	1	0	0	0	1	3	2	3	2	5	1	4	6	5	1	2	2			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr7:107204267G>C	uc003vec.2	-	0	693	c.168C>G	c.(166-168)gtC>gtG	p.V56V	COG5_uc003ved.2_Silent_p.V56V|COG5_uc003vee.2_Silent_p.V56V|DUS4L_uc003veh.3_5'Flank|DUS4L_uc011klw.2_5'Flank|DUS4L_uc011klx.2_5'Flank|DUS4L_uc022ajw.1_5'Flank	NM_006348	NP_006339	Q9UP83	COG5_HUMAN	Homo sapiens component of oligomeric golgi complex 5 (COG5), transcript variant 1, mRNA.	56					intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						GAAGTTCCCGGACTGTAGCTG	0.667													10	20					0	0	0.361761	0	0	C	107204267	G	C	107204267	2	2	61	1	0	0	0	0	0	0	0	1	3661	1161	41	5		5	COG5	7	107204267	Silent	SNP	G	TCGA-DU-5855-01A-11D-1705-08	7492363	107204267	51934396	25	2606											
PLXNA4	91584	broad.mit.edu	37	chr7	131848964	131848964	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaggagtagcgggcctcGcccgtgatggcgtcaatggg	7	7	16	11	4	2	1	2	1	0	0	3	2	2	2	2	4	1	1	2	4	3	1			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr7:131848964G>A	uc003vra.4	-	23	4666	c.4437C>T	c.(4435-4437)ggC>ggT	p.G1479G		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1479						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGCGGGCCTCGCCCGTGATGG	0.592													7	29					0	0	0.27861	0	0	A	131848964	G	A	131848964	2	1	61	1	0	0	0	0	0	0	0	1	12122	1074	38	1		1	PLXNA4	7	131848964	Silent	SNP	G	TCGA-DU-5855-01A-11D-1705-08	24644697	131848964	27289699	26	2607											
SHH	6469	broad.mit.edu	37	chr7	155599004	155599004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttacctgctttcaccgagCagtggatatgtgccttggac	7	12	11	11	1	1	0	1	0	0	0	1	3	1	2	3	2	4	3	3	2	2	4			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr7:155599004C>T	uc003wmk.1	-	1	699	c.548G>A	c.(547-549)tGc>tAc	p.C183Y	SHH_uc003wmh.1_Non-coding_Transcript|SHH_uc003wmi.1_Missense_Mutation_p.C96Y|SHH_uc003wmj.1_Missense_Mutation_p.C96Y	NM_000193	NP_000184	Q15465	SHH_HUMAN	Homo sapiens sonic hedgehog (SHH), mRNA.	183			C -> F (in HPE3).|C -> R (in HPE3).|C -> Y (in HPE3).		CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of T cell differentiation in thymus|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTTCACCGAGCAGTGGATATG	0.622													23	75					0	0	0.654019	0	0	T	155599004	C	T	155599004	3	4	61	1	0	0	0	0	1	0	0	0	14279	710	25	3	848	3	SHH	7	155599004	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	23750040	155599004	3539659	27	2608											
VPS13B	157680	broad.mit.edu	37	chr8	100396486	100396486	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagcagttaatattgacccaAtcttatatacgtggctcatc	12	14	6	9	1	2	1	1	1	1	0	3	1	2	1	1	1	2	3	1	1	7	7			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr8:100396486A>C	uc003yiv.3	+	19	2986	c.2875A>C	c.(2875-2877)Atc>Ctc	p.I959L	VPS13B_uc003yiw.3_Missense_Mutation_p.I959L|VPS13B_uc003yiu.1_Missense_Mutation_p.I959L|VPS13B_uc003yix.1_Missense_Mutation_p.I430L	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	959					protein transport			p.P958Q(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TATTGACCCAATCTTATATAC	0.308													4	86					0	0	0.150653	0	0	C	100396486	A	C	100396486	3	2	61	1	0	0	0	0	1	0	0	0	17187	101	4	5	3072	5	VPS13B	8	100396486	Missense_Mutation	SNP	A	TCGA-DU-5855-01A-11D-1705-08		100396486	45967536	28	2609											
EPPK1	83481	broad.mit.edu	37	chr8	144942235	144942235	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctcgtgcgtgttggggtcGaagaagcccttggtgtcgtc	4	13	15	9	4	1	1	0	0	1	1	5	2	1	1	1	3	2	1	1	3	2	3			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr8:144942235G>A	uc003zaa.1	-	0	5200	c.5187C>T	c.(5185-5187)ttC>ttT	p.F1729F		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1729						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTTGGGGTCGAAGAAGCCCT	0.622													33	47					0	0	0.750413	0	0	A	144942235	G	A	144942235	2	1	61	1	0	0	0	0	0	0	0	1	5190	1049	37	2		2	EPPK1	8	144942235	Silent	SNP	G	TCGA-DU-5855-01A-11D-1705-08	44545749	144942235	1421787	29	2610											
SVEP1	79987	broad.mit.edu	37	chr9	113139596	113139596	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccctctggacaggaacaagCatttgggcgttggcagatgc	9	8	14	10	1	1	1	0	0	1	1	1	3	1	3	1	4	3	3	1	4	2	2			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr9:113139596C>A	uc010mtz.3	-	44	10796	c.10459G>T	c.(10459-10461)Gct>Tct	p.A3487S	SVEP1_uc010mty.3_Missense_Mutation_p.A1413S	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	3487					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAGGAACAAGCATTTGGGCGT	0.507													18	37					2.94398e-08	3.19227e-08	0.557998	1	0	A	113139596	C	A	113139596	3	1	61	1	0	0	0	0	1	0	0	0	15417	710	25	5	272	5	SVEP1	9	113139596	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08		113139596	28073835	30	2611											
ITIH2	3698	broad.mit.edu	37	chr10	7780699	7780699	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaggtgctagagtccacGccacccccacatgtgatgag	9	8	10	14	1	1	3	1	2	1	1	3	3	2	3	4	1	1	1	4	1	1	1			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr10:7780699G>A	uc001ijs.3	+	15	2235	c.2073G>A	c.(2071-2073)acG>acA	p.T691T		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	691					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TAGAGTCCACGCCACCCCCAC	0.562													12	38					0	0	0.38729	0	0	A	7780699	G	A	7780699	2	1	61	1	0	0	0	0	0	0	0	1	7904	1074	38	1		1	ITIH2	10	7780699	Silent	SNP	G	TCGA-DU-5855-01A-11D-1705-08		7780699	127754048	31	2612											
RAG1	5896	broad.mit.edu	37	chr11	36596675	36596675	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgtgatggaatgggagaCgtgagtgagaagcatgggag	11	9	18	3	1	1	4	0	3	1	2	1	8	1	6	0	3	1	1	0	3	2	1			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr11:36596675C>T	uc021qgb.1	+	0	1821	c.1821C>T	c.(1819-1821)gaC>gaT	p.D607D	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Silent_p.D607D	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	607					T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	p.G606G(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GAATGGGAGACGTGAGTGAGA	0.468									Familial Hemophagocytic Lymphohistiocytosis				10	29					0	0	0.361761	0	0	T	36596675	C	T	36596675	2	4	61	1	0	0	0	0	0	0	0	1	13003	535	19	1		1	RAG1	11	36596675	Silent	SNP	C	TCGA-DU-5855-01A-11D-1705-08		36596675	98409841	32	2613											
TRAPPC4	51399	broad.mit.edu	37	chr11	118890880	118890880	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctttgccatcggctcccAgctgtctcctgaacagggaa	7	10	10	14	1	2	1	0	1	2	0	5	2	3	2	3	2	3	3	3	2	2	1	rs78676902		TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr11:118890880A>C	uc010ryo.2	+	2	636	c.371A>C	c.(370-372)cAg>cCg	p.Q124P	RPS25_uc001pun.2_5'Flank|TRAPPC4_uc010ryn.2_Missense_Mutation_p.Q124P|TRAPPC4_uc010ryp.2_Intron|TRAPPC4_uc010ryq.2_Missense_Mutation_p.Q124P	NM_016146	NP_057230	Q9Y296	TPPC4_HUMAN	Homo sapiens trafficking protein particle complex 4 (TRAPPC4), mRNA.	124					ER to Golgi vesicle-mediated transport|dendrite development	Golgi stack|cis-Golgi network|dendrite|endoplasmic reticulum|synaptic vesicle	protein binding			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		ATCGGCTCCCAGCTGTCTCCT	0.498													6	59					0	0	0.335167	0	0	C	118890880	A	C	118890880	3	2	61	1	0	0	0	0	1	0	0	0	16458	188	7	5	381	5	TRAPPC4	11	118890880	Missense_Mutation	SNP	A	TCGA-DU-5855-01A-11D-1705-08	82294205	118890880	16115636	33	2614											
SORL1	6653	broad.mit.edu	37	chr11	121421301	121421301	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggggtgacagctaccggAagatttctggggacacttgt	8	10	16	7	1	1	2	0	1	1	1	1	4	1	4	1	6	2	1	1	6	2	3			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr11:121421301A>G	uc001pxx.3	+	15	2317	c.2188A>G	c.(2188-2190)Aag>Gag	p.K730E		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	730					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CAGCTACCGGAAGATTTCTGG	0.557													7	59					0	0	0.248553	0	0	G	121421301	A	G	121421301	3	3	61	1	0	0	0	0	1	0	0	0	14934	247	9	3	2250	3	SORL1	11	121421301	Missense_Mutation	SNP	A	TCGA-DU-5855-01A-11D-1705-08	2530421	121421301	13585215	34	2615											
WNK1	65125	broad.mit.edu	37	chr12	989896	989896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctgtcacagggcttcccaCctcgactgccaccacagtac	8	9	7	17	1	2	0	1	0	1	0	4	1	3	0	4	1	2	2	4	1	1	3			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr12:989896C>T	uc021qss.1	+	11	4265	c.3622C>T	c.(3622-3624)Cct>Tct	p.P1208S	WNK1_uc001qio.4_Missense_Mutation_p.P948S|WNK1_uc021qst.1_Intron|WNK1_uc001qip.4_Intron|WNK1_uc001qir.4_Intron	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	948					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GGGCTTCCCACCTCGACTGCC	0.468													16	466					0	0	0.520397	0	0	T	989896	C	T	989896	3	4	61	1	0	0	0	0	1	0	0	0	17374	507	18	3	4390	3	WNK1	12	989896	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08		989896	132861999	35	2616											
PRB1	5542	broad.mit.edu	37	chr12	11506690	11506690	+	Missense_Mutation	SNP	C	C	T																															ggggtggtccttgtggctttCctggaggaggtgggggacct																										TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr12:11506690C>T	uc001qzw.1	-	2	384	c.347G>A	c.(346-348)gGa>gAa	p.G116E	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	116	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTGGCTTTCCTGGAGGAGG	0.612													76	590					0	0	0.870114	0	0	T	11506690	C	T	11506690	3	4	61	1	0	0	0	0	1	0	0	0	12442	855	30	3	652	3	PRB1	12	11506690	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	10516794	11506690	122345205	36	2617	10	2									
PRB1	5542	broad.mit.edu	37	chr12	11506691	11506691	+	Missense_Mutation	SNP	C	C	T																															gggtggtccttgtggctttcCtggaggaggtgggggacctt																										TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr12:11506691C>T	uc001qzw.1	-	2	383	c.346G>A	c.(346-348)Gga>Aga	p.G116R	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	116	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGTGGCTTTCCTGGAGGAGGT	0.612													76	593					0	0	0.870114	0	0	T	11506691	C	T	11506691	3	4	61	1	0	0	0	0	1	0	0	0	12442	690	24	3	653	3	PRB1	12	11506691	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	1	11506691	122345204	37	2618	10	2									
ETV6	2120	broad.mit.edu	37	chr12	12022865	12022865	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcatggtctctgtctcccCgcctgaagagcacgccatgc	7	9	9	16	2	3	2	1	1	2	1	5	2	3	2	4	1	2	1	4	1	1	0			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr12:12022865C>A	uc001qzz.3	+	4	1245	c.971C>A	c.(970-972)cCg>cAg	p.P324Q	ETV6_uc001raa.1_Missense_Mutation_p.P117Q	NM_001987	NP_001978	P41212	ETV6_HUMAN	Homo sapiens ets variant 6 (ETV6), mRNA.	324						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				TCTGTCTCCCCGCCTGAAGAG	0.587			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"								3	94					0.150653	0.155848	0.150653	1	0	A	12022865	C	A	12022865	3	1	61	1	0	0	0	0	1	0	0	0	5283	652	23	5	989	5	ETV6	12	12022865	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	516174	12022865	121829030	38	2619											
ARID2	196528	broad.mit.edu	37	chr12	46245951	46245960	+	Frame_Shift_Del	DEL	ATCAAAAGTG	ATCAAAAGTG	-																															aacaaatagacatgcaagatAtcaaaagtgatttgagaaaa																										TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr12:46245951_46245960delATCAAAAGTG	uc001ros.1	+	14	4045_4054	c.4045_4054delATCAAAAGTG	c.(4045-4056)atcaaaagtgatfs	p.I1349fs	ARID2_uc001ror.3_Frame_Shift_Del_p.I1349fs|ARID2_uc009zkg.1_Frame_Shift_Del_p.I805fs|ARID2_uc009zkh.1_Frame_Shift_Del_p.I976fs|ARID2_uc001rou.1_Frame_Shift_Del_p.I683fs	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1349					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CATGCAAGATATCAAAAGTGATTTGAGAAA	0.357			"N, S, F"		hepatocellular carcinoma								19	42	---	---	---	---						-	46245960	ATCAAAAGTG	-	46245951	7	5	61	1	0	1	0	1	0	0	0	0	915	449	16	0	4103	0	ARID2	12	46245951	Frame_Shift_Del	DEL	ATCAAAAGTG	TCGA-DU-5855-01A-11D-1705-08	34223086	46245951	87605944	39	2620											
KRT73	319101	broad.mit.edu	37	chr12	53008406	53008406	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acttgatttctccatccaggGcatccaccttggcctgcagc	7	11	8	15	0	1	1	0	1	1	0	4	1	3	1	5	2	2	2	5	2	0	3			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr12:53008406G>A	uc001sas.3	-	3	811	c.776C>T	c.(775-777)gCc>gTc	p.A259V		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	259	Coil 1B.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCATCCAGGGCATCCACCTT	0.542													5	42					0	0	0.217242	0	0	A	53008406	G	A	53008406	3	1	61	1	0	0	0	0	1	0	0	0	8486	1203	42	3	870	3	KRT73	12	53008406	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08	6762455	53008406	80843489	40	2621											
KCNMB4	27345	broad.mit.edu	37	chr12	70824288	70824288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatgatgtgcttctgcatcGcactcatgatgagattgtcc	9	13	10	9	1	2	4	1	3	1	2	4	5	3	4	1	0	2	3	1	0	0	2			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr12:70824288G>A	uc001svx.3	+	2	941	c.488G>A	c.(487-489)cGc>cAc	p.R163H		NM_014505	NP_055320	Q86W47	KCMB4_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 4 (KCNMB4), mRNA.	163					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			CTTCTGCATCGCACTCATGAT	0.488													16	128					0	0	0.557998	0	0	A	70824288	G	A	70824288	3	1	61	1	0	0	0	0	1	0	0	0	8077	1087	38	1	498	1	KCNMB4	12	70824288	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08	17815882	70824288	63027607	41	2622											
FGD6	55785	broad.mit.edu	37	chr12	95535225	95535225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttgagctcatacagctgagGcaagtagtataggatctgat	12	11	12	6	0	2	3	1	3	1	0	2	4	2	4	0	2	3	6	0	2	5	5			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr12:95535225G>A	uc001tdp.4	-	5	3000	c.2776C>T	c.(2776-2778)Cct>Tct	p.P926S	FGD6_uc009zsx.3_Missense_Mutation_p.P59S	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	926	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TACAGCTGAGGCAAGTAGTAT	0.448													4	76					0	0	0.184627	0	0	A	95535225	G	A	95535225	3	1	61	1	0	0	0	0	1	0	0	0	5837	1203	42	3	1580	3	FGD6	12	95535225	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08	24710937	95535225	38316670	42	2623											
C12orf51	283450	broad.mit.edu	37	chr12	112617095	112617095	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgctaagataaatgtcagaGactctgatgggcttcgctgg	10	12	12	7	1	2	3	1	1	1	2	3	4	2	3	0	2	1	3	0	2	3	4			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr12:112617095G>C	uc021reb.1	-	62	11088	c.10692C>G	c.(10690-10692)gtC>gtG	p.V3564V		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						AAATGTCAGAGACTCTGATGG	0.542													6	13					0	0	0.217242	0	0	C	112617095	G	C	112617095	2	2	61	1	0	0	0	0	0	0	0	1	1696	929	33	5		5	C12orf51	12	112617095	Silent	SNP	G	TCGA-DU-5855-01A-11D-1705-08	17081870	112617095	21234800	43	2624											
FNDC3A	22862	broad.mit.edu	37	chr13	49710555	49710555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaaaaaattgaaggatcGccaaggaacacagaaagata	21	4	10	6	1	0	4	0	1	0	3	1	6	0	6	1	2	1	1	1	2	8	2			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr13:49710555G>A	uc001vcm.3	+	5	883	c.578G>A	c.(577-579)cGc>cAc	p.R193H	FNDC3A_uc001vcl.1_Missense_Mutation_p.R193H|FNDC3A_uc001vcn.3_Missense_Mutation_p.R193H|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcp.1_Missense_Mutation_p.R137H|FNDC3A_uc001vcq.3_Missense_Mutation_p.R137H	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA.	193						Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TTGAAGGATCGCCAAGGAACA	0.388													27	25					0	0	0.667858	0	0	A	49710555	G	A	49710555	3	1	61	1	0	0	0	0	1	0	0	0	5969	1087	38	1	607	1	FNDC3A	13	49710555	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08		49710555	65459323	44	2625											
NGDN	25983	broad.mit.edu	37	chr14	23940135	23940135	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgatggctgtaactgcacaAgtgaaatcactgacacaaaa	16	8	9	8	0	1	3	1	3	0	0	1	3	1	3	0	1	2	3	0	1	5	1			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr14:23940135A>G	uc001wjy.3	+	2	120	c.93A>G	c.(91-93)caA>caG	p.Q31Q	NGDN_uc001wjz.3_Silent_p.Q31Q	NM_001042635	NP_001036100	Q8NEJ9	NGDN_HUMAN	Homo sapiens neuroguidin, EIF4E binding protein (NGDN), transcript variant 1, mRNA.	31					regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		TAACTGCACAAGTGAAATCAC	0.368													5	94					0	0	0.248553	0	0	G	23940135	A	G	23940135	2	3	61	1	0	0	0	0	0	0	0	1	10393	69	3	4		4	NGDN	14	23940135	Silent	SNP	A	TCGA-DU-5855-01A-11D-1705-08		23940135	83409405	45	2626											
CTAGE5	4253	broad.mit.edu	37	chr14	39784908	39784908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttatttcccatgagaaaaaaGcacatgataattgggtaagt	16	12	8	5	0	0	2	0	2	0	1	1	3	1	2	1	1	1	2	1	1	6	5			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr14:39784908G>A	uc001wvi.4	+	15	1729	c.1393G>A	c.(1393-1395)Gca>Aca	p.A465T	CTAGE5_uc010tqe.1_Missense_Mutation_p.A422T|CTAGE5_uc001wuy.4_Missense_Mutation_p.A380T|CTAGE5_uc001wuz.4_Missense_Mutation_p.A448T|CTAGE5_uc001wva.4_Missense_Mutation_p.A431T|CTAGE5_uc001wvb.4_Missense_Mutation_p.A431T|CTAGE5_uc001wvc.4_Missense_Mutation_p.A405T|CTAGE5_uc001wvf.4_Missense_Mutation_p.A385T|CTAGE5_uc001wvg.4_Missense_Mutation_p.A460T|CTAGE5_uc001wvh.4_Missense_Mutation_p.A460T|CTAGE5_uc010amz.3_Missense_Mutation_p.A76T|CTAGE5_uc001wvj.4_Missense_Mutation_p.A431T	NM_001247989	NP_001234918	O15320	CTGE5_HUMAN	Homo sapiens CTAGE family, member 5 (CTAGE5), transcript variant 6, mRNA.	460							enzyme activator activity|protein binding		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TGAGAAAAAAGCACATGATAA	0.254													21	76					0	0	0.667858	0	0	A	39784908	G	A	39784908	3	1	61	1	0	0	0	0	1	0	0	0	3994	971	34	3	1471	3	CTAGE5	14	39784908	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08	15844773	39784908	67564632	46	2627											
CCDC88C	440193	broad.mit.edu	37	chr14	91755473	91755473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccacagacccgttgtgggCgtcgcgctcttctgcacagt	5	9	11	16	4	2	1	0	0	2	1	3	1	2	1	3	1	1	3	3	1	0	2			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr14:91755473C>T	uc010aty.3	-	24	4571	c.4417G>A	c.(4417-4419)Gcc>Acc	p.A1473T		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1473					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CCGTTGTGGGCGTCGCGCTCT	0.701													6	18					0	0	0.217242	0	0	T	91755473	C	T	91755473	3	4	61	1	0	0	0	0	1	0	0	0	2865	768	27	1	1693	1	CCDC88C	14	91755473	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	51970565	91755473	15594067	47	2628											
EIF2AK4	440275	broad.mit.edu	37	chr15	40241413	40241413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagaaatgctggaaaggCgggctcaggaggagcagcag	14	4	17	6	1	1	2	1	1	0	1	1	5	1	5	0	5	3	4	0	5	3	0			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr15:40241413C>T	uc001zkm.1	+	3	507	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W	EIF2AK4_uc001zkl.3_Missense_Mutation_p.R153W	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	153					translation	cytosolic ribosome	ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GCTGGAAAGGCGGGCTCAGGA	0.537													47	73					0	0	0.870114	0	0	T	40241413	C	T	40241413	3	4	61	1	0	0	0	0	1	0	0	0	4999	759	27	1	471	1	EIF2AK4	15	40241413	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08		40241413	62289979	48	2629											
BUB1B	701	broad.mit.edu	37	chr15	40509802	40509802	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggatgtttttaccctcagCggctttcggactgtacagat	7	14	10	10	2	1	1	1	0	0	1	2	3	1	3	1	3	3	3	1	3	2	5	rs139066741	by1000genomes	TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr15:40509802C>T	uc001zkx.4	+	20	2996	c.2784C>T	c.(2782-2784)agC>agT	p.S928S	PAK6_uc010bbl.3_5'UTR|PAK6_uc010bbm.3_5'UTR	NM_001211	NP_001202	O60566	BUB1B_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog beta (yeast) (BUB1B), mRNA.	928	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TTACCCTCAGCGGCTTTCGGA	0.443			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				92	260					0	0	0.870114	0	0	T	40509802	C	T	40509802	2	4	61	1	0	0	0	0	0	0	0	1	1571	767	27	1		1	BUB1B	15	40509802	Silent	SNP	C	TCGA-DU-5855-01A-11D-1705-08	268389	40509802	62021590	49	2630											
NLRP1	22861	broad.mit.edu	37	chr17	5437261	5437261	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggatgtgctattactcAtctctcccgtatccaggccc	7	12	9	13	1	2	1	1	1	1	0	5	2	4	2	3	2	2	2	3	2	3	3			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr17:5437261A>T	uc002gci.3	-	8	3563	c.3008T>A	c.(3007-3009)aTg>aAg	p.M1003K	NLRP1_uc002gcg.1_Missense_Mutation_p.M1003K|NLRP1_uc002gch.4_Missense_Mutation_p.M1003K|NLRP1_uc002gck.3_Missense_Mutation_p.M1003K|NLRP1_uc002gcj.3_Missense_Mutation_p.M973K|NLRP1_uc002gcl.3_Missense_Mutation_p.M973K|NLRP1_uc010clh.3_Missense_Mutation_p.M1003K	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	1003					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	p.M1003I(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCTATTACTCATCTCTCCCGT	0.537													7	325					0	0	0.27861	0	0	T	5437261	A	T	5437261	3	4	61	1	0	0	0	0	1	0	0	0	10471	217	8	5	1524	5	NLRP1	17	5437261	Missense_Mutation	SNP	A	TCGA-DU-5855-01A-11D-1705-08		5437261	75757949	50	2631											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			21	3					0	0	0.608945	0	0	A	7577121	G	A	7577121	3	1	61	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08	2139860	7577121	73618089	51	2632											
PIGS	94005	broad.mit.edu	37	chr17	26890906	26890906	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgataggccttctggaaacgGcatttgattttcattttgtc	8	16	9	8	2	2	1	1	1	1	0	3	3	2	2	1	3	1	1	1	3	2	7			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr17:26890906G>A	uc002hbo.2	-	3	679	c.306C>T	c.(304-306)tgC>tgT	p.C102C	PIGS_uc002hbn.2_Silent_p.C94C|PIGS_uc010wap.1_Silent_p.C41C	NM_033198	NP_149975	Q96S52	PIGS_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class S (PIGS), mRNA.	102					C-terminal protein lipidation|attachment of GPI anchor to protein	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					TCTGGAAACGGCATTTGATTT	0.512													4	109					0	0	0.150653	0	0	A	26890906	G	A	26890906	2	1	61	1	0	0	0	0	0	0	0	1	11898	1195	42	3		3	PIGS	17	26890906	Silent	SNP	G	TCGA-DU-5855-01A-11D-1705-08	19313785	26890906	54304304	52	2633											
AATF	26574	broad.mit.edu	37	chr17	35345964	35345964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttacagtctacaggaaccGcacacttcagaaatggcacg	13	8	8	12	2	2	1	1	0	1	1	2	2	2	2	1	2	3	2	1	2	4	4			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr17:35345964G>A	uc002hni.3	+	5	1345	c.1094G>A	c.(1093-1095)cGc>cAc	p.R365H		NM_012138	NP_036270	Q9NY61	AATF_HUMAN	Homo sapiens apoptosis antagonizing transcription factor (AATF), mRNA.	365	RB1 binding.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				TACAGGAACCGCACACTTCAG	0.507													4	43					0	0	0.150653	0	0	A	35345964	G	A	35345964	3	1	61	1	0	0	0	0	1	0	0	0	25	1087	38	1	1116	1	AATF	17	35345964	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08	8455058	35345964	45849246	53	2634											
PSMD3	5709	broad.mit.edu	37	chr17	38151212	38151212	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcactctgtccaggtgcaCaagcttctcatcgtggtgga	7	12	11	11	1	3	0	2	0	2	0	6	1	4	1	1	3	2	2	1	3	1	1			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr17:38151212C>G	uc002htn.1	+	6	1151	c.987C>G	c.(985-987)caC>caG	p.H329Q	PSMD3_uc010wen.1_Non-coding_Transcript|PSMD3_uc010weo.1_Missense_Mutation_p.H230Q	NM_002809	NP_002800	O43242	PSMD3_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 (PSMD3), mRNA.	329					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					TCCAGGTGCACAAGCTTCTCA	0.572													19	40					0	0	0.539581	0	0	G	38151212	C	G	38151212	3	3	61	1	0	0	0	0	1	0	0	0	12699	477	17	5	1013	5	PSMD3	17	38151212	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	2805248	38151212	43043998	54	2635											
CCR7	1236	broad.mit.edu	37	chr17	38711759	38711759	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcttgcaaaagtggacaccGaagacccaggacttggccgc	12	5	12	12	2	0	1	0	0	0	1	0	4	0	3	3	3	2	2	3	3	3	2			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr17:38711759G>A	uc002huw.3	-	2	447	c.372C>T	c.(370-372)ttC>ttT	p.F124F		NM_001838	NP_001829	P32248	CCR7_HUMAN	Homo sapiens chemokine (C-C motif) receptor 7 (CCR7), mRNA.	124					T cell costimulation|cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				AGTGGACACCGAAGACCCAGG	0.552													19	20					0	0	0.575678	0	0	A	38711759	G	A	38711759	2	1	61	1	0	0	0	0	0	0	0	1	2946	1049	37	2		2	CCR7	17	38711759	Silent	SNP	G	TCGA-DU-5855-01A-11D-1705-08	560547	38711759	42483451	55	2636											
HDAC5	10014	broad.mit.edu	37	chr17	42169818	42169818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aataacagtcccatccttgcGacgcaggaggggactgcttc	10	8	11	12	2	0	0	0	0	0	0	3	3	2	2	2	3	3	2	2	3	2	3	rs138137922		TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr17:42169818G>A	uc002iff.1	-	7	1185	c.853C>T	c.(853-855)Cgc>Tgc	p.R285C	HDAC5_uc002ifd.1_Missense_Mutation_p.R284C|HDAC5_uc002ife.1_Missense_Mutation_p.R284C|HDAC5_uc010czp.1_Missense_Mutation_p.R284C|HDAC5_uc002ifh.2_Missense_Mutation_p.R284C	NM_001015053	NP_001015053	Q9UQL6	HDAC5_HUMAN	Homo sapiens histone deacetylase 5 (HDAC5), transcript variant 3, mRNA.	284					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding	p.R284S(2)		central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CCATCCTTGCGACGCAGGAGG	0.537													9	12					0	0	0.335167	0	0	A	42169818	G	A	42169818	3	1	61	1	0	0	0	0	1	0	0	0	7010	1058	37	2	2598	2	HDAC5	17	42169818	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08	3458059	42169818	39025392	56	2637											
KLHL14	57565	broad.mit.edu	37	chr18	30349844	30349844	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcacggacatctggaagagCgccagctccgactccacggg	10	4	13	14	4	1	1	0	0	1	1	3	4	3	3	3	3	3	2	3	3	1	0			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr18:30349844C>T	uc002kxm.1	-	1	1099	c.711G>A	c.(709-711)gcG>gcA	p.A237A		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	237	BACK.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TCTGGAAGAGCGCCAGCTCCG	0.657													10	28					0	0	0.335167	0	0	T	30349844	C	T	30349844	2	4	61	1	0	0	0	0	0	0	0	1	8370	755	27	1		1	KLHL14	18	30349844	Silent	SNP	C	TCGA-DU-5855-01A-11D-1705-08		30349844	47727404	57	2638											
EEF2	1938	broad.mit.edu	37	chr19	3977234	3977234	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaggactcgttgacgggcaGataggccttgaccacaaaca	14	6	11	10	2	0	3	0	2	0	1	1	4	0	4	2	3	1	2	2	3	3	3			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr19:3977234G>A	uc002lze.3	-	13	2445	c.2362C>T	c.(2362-2364)Ctg>Ttg	p.L788L		NM_001961	NP_001952	P13639	EF2_HUMAN	Homo sapiens eukaryotic translation elongation factor 2 (EEF2), mRNA.	788						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGACGGGCAGATAGGCCTTG	0.617													5	10					0	0	0.184627	0	0	A	3977234	G	A	3977234	2	1	61	1	0	0	0	0	0	0	0	1	4929	933	33	3		3	EEF2	19	3977234	Silent	SNP	G	TCGA-DU-5855-01A-11D-1705-08		3977234	55151749	58	2639											
FCGBP	8857	broad.mit.edu	37	chr19	40408740	40408740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atagtacacaaggtcgtaggCcacacgcaggccgaagtcgg	12	5	13	11	4	0	0	0	0	0	0	2	1	0	0	2	4	1	3	2	4	5	3			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr19:40408740C>T	uc002omp.4	-	7	4107	c.4099G>A	c.(4099-4101)Gcc>Acc	p.A1367T		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1367	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGGTCGTAGGCCACACGCAGG	0.587													16	30					0	0	0.500413	0	0	T	40408740	C	T	40408740	3	4	61	1	0	0	0	0	1	0	0	0	5778	739	26	3	12234	3	FCGBP	19	40408740	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	36431506	40408740	18720243	59	2640											
FOSB	2354	broad.mit.edu	37	chr19	45974181	45974181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccgcccagcccgagccCggcctaggagaccccgagag	7	2	13	19	4	0	2	0	0	0	2	0	5	0	2	7	2	3	0	7	2	1	1			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr19:45974181C>T	uc002pbx.4	+	1	1013	c.421C>T	c.(421-423)Cgg>Tgg	p.R141W	ERCC1_uc002pbu.2_Intron|FOSB_uc002pbw.3_Missense_Mutation_p.R141W|FOSB_uc010eka.1_Missense_Mutation_p.R102W|FOSB_uc010ekb.1_Missense_Mutation_p.R141W|FOSB_uc010ekc.1_Intron|FOSB_uc010ekd.1_Missense_Mutation_p.R141W|FOSB_uc010eke.3_Missense_Mutation_p.R102W|FOSB_uc002pby.4_Missense_Mutation_p.R141W|FOSB_uc010ekf.3_Missense_Mutation_p.R102W|FOSB_uc010ekg.3_Intron|FOSB_uc002pca.4_Missense_Mutation_p.R92W	NM_006732	NP_006723	P53539	FOSB_HUMAN	Homo sapiens FBJ murine osteosarcoma viral oncogene homolog B (FOSB), transcript variant 1, mRNA.	141					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		AGCCCGAGCCCGGCCTAGGAG	0.632													14	26					0	0	0.520397	0	0	T	45974181	C	T	45974181	3	4	61	1	0	0	0	0	1	0	0	0	5986	643	23	2	427	2	FOSB	19	45974181	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	5565441	45974181	13154802	60	2641											
ZNF814	730051	broad.mit.edu	37	chr19	58385268	58385268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgactgaaagatttcccaCattctccacactgataaggt	12	13	6	10	0	1	4	0	3	1	1	3	4	2	4	2	1	0	0	2	1	2	4			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr19:58385268C>T	uc002qqo.2	-	2	1762	c.1490G>A	c.(1489-1491)tGt>tAt	p.C497Y	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	497					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AGATTTCCCACATTCTCCACA	0.448													4	27					0	0	0.150653	0	0	T	58385268	C	T	58385268	3	4	61	1	0	0	0	0	1	0	0	0	18173	478	17	3	1081	3	ZNF814	19	58385268	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	12411087	58385268	743715	61	2642											
PRND	23627	broad.mit.edu	37	chr20	4705632	4705632	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctgctccctcaagcattgCgagttttggttggagagggg	6	12	14	9	1	2	1	1	0	1	1	3	3	3	1	1	4	3	4	1	4	1	4			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr20:4705632C>T	uc021waf.1	+	0	435	c.435C>T	c.(433-435)tgC>tgT	p.C145C	PRND_uc002wkz.3_Silent_p.C145C	NM_012409	NP_036541	Q9UKY0	PRND_HUMAN	Homo sapiens prion protein 2 (dublet) (PRND), mRNA.	145	Globular.				protein homooligomerization	anchored to membrane|plasma membrane				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						TCAAGCATTGCGAGTTTTGGT	0.602													8	33					0	0	0.27861	0	0	T	4705632	C	T	4705632	2	4	61	1	0	0	0	0	0	0	0	1	12543	776	27	1		1	PRND	20	4705632	Silent	SNP	C	TCGA-DU-5855-01A-11D-1705-08		4705632	58319888	62	2643											
UQCC	55245	broad.mit.edu	37	chr20	33969807	33969807	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttctcctcaacaggctgtgGggaatctttggtagtagaaa	10	12	11	8	0	3	1	1	0	2	1	4	2	3	2	1	4	1	3	1	4	5	4			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr20:33969807G>T	uc002xcd.3	-	3	426	c.247C>A	c.(247-249)Cca>Aca	p.P83T	UQCC_uc010zuy.2_5'UTR|UQCC_uc021wcl.1_Missense_Mutation_p.P37T|UQCC_uc010zva.2_Intron|UQCC_uc010gfb.3_Missense_Mutation_p.P83T|UQCC_uc010zvb.2_Intron|UQCC_uc002xcg.3_5'UTR|UQCC_uc002xcf.3_Intron|UQCC_uc010zuz.2_Intron|GDF5_uc010gfc.1_Intron|UQCC_uc002xci.1_Missense_Mutation_p.P37T|UQCC_uc010gfd.2_Missense_Mutation_p.P69T|RN7SK_uc021wcm.1_5'Flank	NM_018244	NP_060714	Q9NVA1	UQCC_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase complex chaperone (UQCC), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	83						cytoplasmic membrane-bounded vesicle		p.P83T(2)		breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.00252)			ACAGGCTGTGGGGAATCTTTG	0.358													5	134					0.184627	0.188823	0.184627	1	0	T	33969807	G	T	33969807	3	4	61	1	0	0	0	0	1	0	0	0	17012	1232	43	5	680	5	UQCC	20	33969807	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08	29264175	33969807	29055713	63	2644											
PLCG1	5335	broad.mit.edu	37	chr20	39795459	39795459	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgcaagatgaagctgcgctAtcccatcaacgaggaggcac	12	5	11	13	3	1	2	1	1	0	1	2	4	2	3	2	2	3	4	2	2	4	1			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr20:39795459A>G	uc002xjp.1	+	18	2382	c.2261A>G	c.(2260-2262)tAt>tGt	p.Y754C	PLCG1_uc002xjo.1_Missense_Mutation_p.Y754C|PLCG1_uc010zwe.1_Missense_Mutation_p.Y380C|PLCG1_uc010ggf.3_Missense_Mutation_p.Y104C	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	754	SH2 2.				T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				AAGCTGCGCTATCCCATCAAC	0.562													31	50					0	0	0.769981	0	0	G	39795459	A	G	39795459	3	3	61	1	0	0	0	0	1	0	0	0	12035	449	16	3	2335	3	PLCG1	20	39795459	Missense_Mutation	SNP	A	TCGA-DU-5855-01A-11D-1705-08	5825652	39795459	23230061	64	2645											
ASB9	140462	broad.mit.edu	37	chrX	15272893	15272893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaataaaatcttcacacaaGagagatgacctccaagacag	18	8	6	9	0	2	4	1	1	1	3	3	5	3	4	2	0	0	0	2	0	5	3			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chrX:15272893G>A	uc004cwl.3	-	2	545	c.248C>T	c.(247-249)tCt>tTt	p.S83F	ASB9_uc004cwm.3_Missense_Mutation_p.S83F|ASB9_uc004cwk.3_Missense_Mutation_p.S83F|ASB9_uc010ner.3_Missense_Mutation_p.S83F|ASB9_uc004cwn.2_Missense_Mutation_p.S83F	NM_001031739	NP_001026909	Q96DX5	ASB9_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 9 (ASB9), transcript variant 1, mRNA.	83					intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					CTTCACACAAGAGAGATGACC	0.443													25	194					0	0	0.667858	0	0	A	15272893	G	A	15272893	3	1	61	1	0	0	0	0	1	0	0	0	1030	942	33	3	685	3	ASB9	23	15272893	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08		15272893	139997667	65	2646											
MAGEB10	139422	broad.mit.edu	37	chrX	27840125	27840125	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacgatggggttatatgaCggaattgagcacttcatgtt	12	12	11	6	2	1	2	1	2	0	0	1	4	1	3	0	3	2	3	0	3	4	5			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chrX:27840125C>T	uc022bud.1	+	0	702	c.702C>T	c.(700-702)gaC>gaT	p.D234D	MAGEB10_uc004dbw.3_Silent_p.D234D	NM_182506	NP_872312	Q96LZ2	MAGBA_HUMAN	Homo sapiens melanoma antigen family B, 10 (MAGEB10), mRNA.	234	MAGE.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						GGTTATATGACGGAATTGAGC	0.468													8	40					0	0	0.27861	0	0	T	27840125	C	T	27840125	2	4	61	1	0	0	0	0	0	0	0	1	9173	535	19	1		1	MAGEB10	23	27840125	Silent	SNP	C	TCGA-DU-5855-01A-11D-1705-08	12567232	27840125	127430435	66	2647											
ATRX	546	broad.mit.edu	37	chrX	76764102	76764102	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtattcgctgaacacagctGattaactatagagaaaaaat	18	10	7	6	1	0	3	0	2	0	1	1	4	0	3	0	0	3	3	0	0	8	5			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chrX:76764102G>T	uc004ecp.4	-	34	7438	c.7206C>A	c.(7204-7206)atC>atA	p.I2402I	ATRX_uc004ecq.4_Silent_p.I2364I|ATRX_uc004eco.4_Silent_p.I2187I	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2402					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GAACACAGCTGATTAACTATA	0.403			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						7	183					0.0381472	0.0399215	0.27861	1	0	T	76764102	G	T	76764102	2	4	61	1	0	0	0	0	0	0	0	1	1208	1280	45	5		5	ATRX	23	76764102	Silent	SNP	G	TCGA-DU-5855-01A-11D-1705-08	48923977	76764102	78506458	67	2648											
ATRX	546	broad.mit.edu	37	chrX	76909629	76909629	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgaaccttaatacgtcGccttttctttttctgtttat	6	22	4	9	2	3	1	0	1	3	0	4	1	3	1	2	0	2	1	2	0	4	10			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chrX:76909629G>A	uc004ecp.4	-	13	4508	c.4276C>T	c.(4276-4278)Cga>Tga	p.R1426*	ATRX_uc004ecq.4_Nonsense_Mutation_p.R1388*|ATRX_uc004eco.4_Nonsense_Mutation_p.R1211*|ATRX_uc004ecr.2_Nonsense_Mutation_p.R1358*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1426					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.R1426*(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTAATACGTCGCCTTTTCTTT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						38	92					0	0	0.840704	0	0	A	76909629	G	A	76909629	4	1	61	1	0	0	0	0	0	1	0	0	1208	1095	38	1	3290	1	ATRX	23	76909629	Nonsense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08	145527	76909629	78360931	68	2649											
ARHGEF6	9459	broad.mit.edu	37	chrX	135825810	135825810	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctcccatttaatgtgccttCccaccagcctccttcttcaa	7	14	3	17	0	3	0	1	0	2	0	6	0	5	0	6	0	2	0	6	0	2	5			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chrX:135825810C>A	uc004fab.3	-	4	1057	c.595G>T	c.(595-597)Gaa>Taa	p.E199*	ARHGEF6_uc011mwd.2_Nonsense_Mutation_p.E45*|ARHGEF6_uc011mwe.2_Nonsense_Mutation_p.E45*	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA.	199	SH3.			E -> G (in Ref. 2; CAD97632).	JNK cascade|apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					AATGTGCCTTCCCACCAGCCT	0.408													13	207					0.00136819	0.00146592	0.411799	1	0	A	135825810	C	A	135825810	4	1	61	1	0	0	0	0	0	1	0	0	910	864	30	5	1807	5	ARHGEF6	23	135825810	Nonsense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	58916181	135825810	19444750	69	2650											
MAGEC3	139081	broad.mit.edu	37	chrX	140969496	140969496	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcatgccccagaaccgcCtcctgattcttattctgagt	8	11	9	13	1	2	3	0	2	2	1	3	3	3	3	5	1	2	1	5	1	2	3			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chrX:140969496C>A	uc011mwp.2	+	3	823	c.823C>A	c.(823-825)Ctc>Atc	p.L275I		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	275	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGAACCGCCTCCTGATTCT	0.502													31	203					2.85442e-18	3.1329e-18	0.750413	1	0	A	140969496	C	A	140969496	3	1	61	1	0	0	0	0	1	0	0	0	9182	681	24	5	837	5	MAGEC3	23	140969496	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	5143686	140969496	14301064	70	2651											
ACTL8	81569	broad.mit.edu	37	chr1	18149709	18149709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttagctaccccatcgagcGgggccgcatcctcaactggg	7	8	11	15	3	1	0	1	0	0	0	3	1	2	0	4	3	4	2	4	3	3	3			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr1:18149709G>A	uc001bat.3	+	1	422	c.206G>A	c.(205-207)cGg>cAg	p.R69Q		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	Homo sapiens actin-like 8 (ACTL8), mRNA.	69						cytoplasm|cytoskeleton		p.R69Q(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CCCATCGAGCGGGGCCGCATC	0.597													27	22					0	0	0.125774	0	0	A	18149709	G	A	18149709	3	1	62	1	0	0	0	0	1	0	0	0	202	1116	39	2	208	2	ACTL8	1	18149709	Missense_Mutation	SNP	G	TCGA-DU-5870-01A-11D-1705-08		18149709	231100912	1	2652											
RAB3B	5865	broad.mit.edu	37	chr1	52442779	52442779	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagttttaccatctgtcActgaagccatctgcaagaga	11	11	7	12	0	3	2	1	1	2	1	4	3	4	2	3	0	3	2	3	0	3	2			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr1:52442779A>G	uc001cth.3	-	1	224	c.11T>C	c.(10-12)gTg>gCg	p.V4A		NM_002867	NP_002858	P20337	RAB3B_HUMAN	Homo sapiens RAB3B, member RAS oncogene family (RAB3B), mRNA.	4					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	p.S3S(1)		large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						ACCATCTGTCACTGAAGCCAT	0.473													12	13					0	0	0.09319	0	0	G	52442779	A	G	52442779	3	3	62	1	0	0	0	0	1	0	0	0	12932	159	6	3	664	3	RAB3B	1	52442779	Missense_Mutation	SNP	A	TCGA-DU-5870-01A-11D-1705-08	34293070	52442779	196807842	2	2653											
TNR	7143	broad.mit.edu	37	chr1	175336428	175336428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccatactcagtgccaggtaCcagatctatcagtggatgga	11	10	10	10	0	3	1	2	0	1	1	4	3	4	3	3	3	3	1	3	3	3	3			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr1:175336428C>T	uc001gkp.1	-	7	2050	c.1969G>A	c.(1969-1971)Gta>Ata	p.V657I	TNR_uc009wwu.1_Missense_Mutation_p.V657I	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	657	Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GTGCCAGGTACCAGATCTATC	0.478													5	25					0	0	0.021553	0	0	T	175336428	C	T	175336428	3	4	62	1	0	0	0	0	1	0	0	0	16335	507	18	3	2163	3	TNR	1	175336428	Missense_Mutation	SNP	C	TCGA-DU-5870-01A-11D-1705-08	122893649	175336428	73914193	3	2654											
SRGAP2	23380	broad.mit.edu	37	chr1	206566948	206566948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgaaggccatcaaagcccGgaatgagtacttgctggctt	10	9	12	10	1	1	2	1	2	0	0	1	3	1	3	2	3	3	4	2	3	4	3	rs2987928		TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr1:206566948G>A	uc001hdy.3	+	3	489	c.488G>A	c.(487-489)cGg>cAg	p.R163Q	SRGAP2_uc009xbt.3_Missense_Mutation_p.R87Q|SRGAP2_uc010prt.1_Missense_Mutation_p.R87Q|SRGAP2_uc001hdx.3_Missense_Mutation_p.R163Q|SRGAP2_uc010pru.2_Missense_Mutation_p.R163Q|SRGAP2_uc010prv.1_Missense_Mutation_p.R87Q	NM_015326	NP_056141	O75044	FNBP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 2 (SRGAP2), transcript variant 1, mRNA.	250					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					ATCAAAGCCCGGAATGAGTAC	0.428													3	57					0	0	0.115264	0	0	A	206566948	G	A	206566948	3	1	62	1	0	0	0	0	1	0	0	0	15145	1116	39	2	503	2	SRGAP2	1	206566948	Missense_Mutation	SNP	G	TCGA-DU-5870-01A-11D-1705-08	31230520	206566948	42683673	4	2655											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								26	45					0	0	0.116897	0	0	T	209113112	C	T	209113112	3	4	62	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-5870-01A-11D-1705-08		209113112	34086261	5	2656											
GPR125	166647	broad.mit.edu	37	chr4	22390382	22390382	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagacattgaatcctgatgaTttatttcgccattttcattg	11	17	6	7	1	1	4	1	3	0	1	3	4	2	4	2	0	0	0	2	0	3	7			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr4:22390382T>C	uc003gqm.1	-	18	3177	c.2912A>G	c.(2911-2913)aAt>aGt	p.N971S	GPR125_uc010ieo.1_Missense_Mutation_p.N827S|GPR125_uc003gql.1_Missense_Mutation_p.N98S	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.	971					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				ATCCTGATGATTTATTTCGCC	0.433													26	60					0	0	0.099896	0	0	C	22390382	T	C	22390382	3	2	62	1	0	0	0	0	1	0	0	0	6639	1493	52	3	1057	3	GPR125	4	22390382	Missense_Mutation	SNP	T	TCGA-DU-5870-01A-11D-1705-08		22390382	168763894	6	2657											
RG9MTD2	93587	broad.mit.edu	37	chr4	100479223	100479223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacctttaataccatcaagtGatcaaaactacagtcaataa	18	11	3	9	0	3	1	3	1	0	0	3	1	3	1	2	0	4	0	2	0	9	6			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr4:100479223G>A	uc003huy.3	-	2	644	c.331C>T	c.(331-333)Cac>Tac	p.H111Y	RG9MTD2_uc003huz.4_Missense_Mutation_p.H111Y|RG9MTD2_uc003hva.4_Missense_Mutation_p.H111Y	NM_152292	NP_689505	Q8TBZ6	RG9D2_HUMAN	Homo sapiens RNA (guanine-9-) methyltransferase domain containing 2 (RG9MTD2), transcript variant 1, mRNA.	111							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|urinary_tract(2)	19				OV - Ovarian serous cystadenocarcinoma(123;1.7e-08)		ACCATCAAGTGATCAAAACTA	0.338													10	19					0	0	0.069234	0	0	A	100479223	G	A	100479223	3	1	62	1	0	0	0	0	1	0	0	0	13272	1290	45	3	712	3	RG9MTD2	4	100479223	Missense_Mutation	SNP	G	TCGA-DU-5870-01A-11D-1705-08	78088841	100479223	90675053	7	2658											
IRX2	153572	broad.mit.edu	37	chr5	2749842	2749842	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacgggtaggccgcgctgccGtacgggtggtagctgatggc	5	8	18	10	5	0	1	0	1	0	0	0	1	0	1	2	5	4	5	2	5	4	4			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr5:2749842G>A	uc003jda.3	-	1	551	c.309C>T	c.(307-309)taC>taT	p.Y103Y	C5orf38_uc003jdc.3_5'Flank|C5orf38_uc011cmg.2_5'Flank|C5orf38_uc011cmh.2_5'Flank|C5orf38_uc011cmi.2_5'Flank|C5orf38_uc011cmj.2_5'Flank|IRX2_uc003jdb.3_Silent_p.Y103Y	NM_001134222	NP_150366	Q9BZI1	IRX2_HUMAN	Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA.	103						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CCGCGCTGCCGTACGGGTGGT	0.672													18	18					0	0	0.204396	0	0	A	2749842	G	A	2749842	2	1	62	1	0	0	0	0	0	0	0	1	7844	1140	40	1		1	IRX2	5	2749842	Silent	SNP	G	TCGA-DU-5870-01A-11D-1705-08		2749842	178165418	8	2659											
PIK3R1	5295	broad.mit.edu	37	chr5	67591097	67591097	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaattgacaaacgtatgAacagcattaaaccagacctt	18	8	7	8	1	0	4	0	2	0	2	0	5	0	4	2	0	4	2	2	0	6	4			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr5:67591097A>G	uc003jva.3	+	12	2270	c.1690A>G	c.(1690-1692)Aac>Gac	p.N564D	PIK3R1_uc003jvc.3_Missense_Mutation_p.N264D|PIK3R1_uc003jvd.3_Missense_Mutation_p.N294D|PIK3R1_uc003jve.3_Missense_Mutation_p.N243D|PIK3R1_uc021xzn.1_Missense_Mutation_p.N201D|PIK3R1_uc011crb.2_Missense_Mutation_p.N234D	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	564					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.N564D(8)|p.D560_S565del(2)|p.N564K(2)|p.R562_M563ins13(1)|p.0?(1)|p.?(1)|p.N564fs*?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAAACGTATGAACAGCATTAA	0.373			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			30	59					0	0	0.134883	0	0	G	67591097	A	G	67591097	3	3	62	1	0	0	0	0	1	0	0	0	11918	246	9	3	1866	3	PIK3R1	5	67591097	Missense_Mutation	SNP	A	TCGA-DU-5870-01A-11D-1705-08	64841255	67591097	113324163	9	2660											
PCDHAC2	56134	broad.mit.edu	37	chr5	140249978	140249978	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgactgcgcgggatgggggTtcgccttctctgtgggccac	3	10	17	11	3	1	1	0	1	1	0	3	2	1	2	2	4	1	1	2	4	0	2			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr5:140249978T>C	uc003lia.2	+	0	2148	c.1290T>C	c.(1288-1290)ggT>ggC	p.G430G	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Silent_p.G430G	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	445	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.R429R(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGATGGGGGTTCGCCTTCTC	0.617													37	90					0	0	0.092188	0	0	C	140249978	T	C	140249978	2	2	62	1	0	0	0	0	0	0	0	1	11533	1712	60	3		3	PCDHAC2	5	140249978	Silent	SNP	T	TCGA-DU-5870-01A-11D-1705-08	72658881	140249978	40665282	10	2661											
FOXK1	221937	broad.mit.edu	37	chr7	4796757	4796757	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcgtggaacaggcattcCggaaacggaggcagaggggt	11	5	17	8	3	0	1	0	0	0	1	2	4	1	4	1	7	3	3	1	7	2	1			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr7:4796757C>G	uc003snc.1	+	4	1193	c.1183C>G	c.(1183-1185)Cgg>Ggg	p.R395G	FOXK1_uc003sna.1_Missense_Mutation_p.R232G	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	Homo sapiens forkhead box K1 (FOXK1), mRNA.	395					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		ACAGGCATTCCGGAAACGGAG	0.577													35	76					0	0	0.092188	0	0	G	4796757	C	G	4796757	3	3	62	1	0	0	0	0	1	0	0	0	6014	643	23	5	1201	5	FOXK1	7	4796757	Missense_Mutation	SNP	C	TCGA-DU-5870-01A-11D-1705-08		4796757	154341906	11	2662											
CASC1	55259	broad.mit.edu	37	chr12	25272177	25272177	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggaaagcattttctgtcTcaaactcttctgtagtttcc	8	16	8	9	0	4	0	1	0	4	0	6	1	5	1	1	1	2	3	1	1	3	5			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr12:25272177T>C	uc001rgk.3	-	11	1380	c.1298A>G	c.(1297-1299)gAg>gGg	p.E433G	CASC1_uc001rgj.3_Missense_Mutation_p.E387G|CASC1_uc001rgm.4_Missense_Mutation_p.E491G|CASC1_uc001rgl.3_Missense_Mutation_p.E427G|CASC1_uc010sje.2_Missense_Mutation_p.E368G|CASC1_uc010sjf.2_Missense_Mutation_p.E315G|CASC1_uc010sjg.1_Missense_Mutation_p.E427G	NM_018272	NP_060742	Q6TDU7	CASC1_HUMAN	Homo sapiens cancer susceptibility candidate 1 (CASC1), transcript variant 1, mRNA.	427										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			ATTTTCTGTCTCAAACTCTTC	0.383													3	98					0	0	0.115264	0	0	C	25272177	T	C	25272177	3	2	62	1	0	0	0	0	1	0	0	0	2660	1551	54	4	890	4	CASC1	12	25272177	Missense_Mutation	SNP	T	TCGA-DU-5870-01A-11D-1705-08		25272177	108579718	12	2663											
TMEM132B	114795	broad.mit.edu	37	chr12	125834002	125834003	+	Frame_Shift_Del	DEL	AG	AG	-																															ttcctttcttgtgcagtgacAgagagtcgagggattgtgga																										TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr12:125834002_125834003delAG	uc001uhe.1	+	1	65_66	c.57_58delAG	c.(55-60)acagagfs	p.T19fs	TMEM132B_uc021rgl.1_5'UTR	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	19						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTGCAGTGACAGAGAGTCGAGG	0.485													33	73	---	---	---	---						-	125834003	AG	-	125834002	7	5	62	1	0	1	0	1	0	0	0	0	16043	175	7	0	63	0	TMEM132B	12	125834002	Frame_Shift_Del	DEL	AG	TCGA-DU-5870-01A-11D-1705-08	100561825	125834002	8017893	13	2664											
THBS1	7057	broad.mit.edu	37	chr15	39882077	39882077	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacgccaagtgcaactacctGggccactatagcgaccccat	12	6	8	15	2	0	0	0	0	0	0	0	1	0	0	5	1	5	1	5	1	6	3			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr15:39882077G>A	uc001zkh.3	+	12	2177	c.1998G>A	c.(1996-1998)ctG>ctA	p.L666L	THBS1_uc010bbi.3_Silent_p.L138L	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	666	EGF-like 3.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GCAACTACCTGGGCCACTATA	0.602													7	24					0	0	0.02938	0	0	A	39882077	G	A	39882077	2	1	62	1	0	0	0	0	0	0	0	1	15850	1335	47	3		3	THBS1	15	39882077	Silent	SNP	G	TCGA-DU-5870-01A-11D-1705-08		39882077	62649315	14	2665											
CIC	23152	broad.mit.edu	37	chr19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcttcagcaagcggcacCgggccctggtccaccagcgt	7	7	12	15	3	2	1	1	1	1	0	3	1	3	1	4	3	3	2	4	3	1	1			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr19:42791757C>T	uc002otf.1	+	4	683	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215W(8)|p.R215Q(2)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612			"Mis, F, S"		oligodendroglioma								10	15					0	0	0.058154	0	0	T	42791757	C	T	42791757	3	4	62	1	0	0	0	0	1	0	0	0	3424	643	23	2	661	2	CIC	19	42791757	Missense_Mutation	SNP	C	TCGA-DU-5870-01A-11D-1705-08		42791757	16337226	15	2666											
NLRP4	147945	broad.mit.edu	37	chr19	56369920	56369920	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acacctgagggtgccgagggCccgactccgcaaacccagca	10	3	12	16	3	0	1	0	1	0	0	1	3	1	1	5	2	3	2	5	2	1	0			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr19:56369920C>T	uc002qmd.4	+	2	1583	c.1161C>T	c.(1159-1161)ggC>ggT	p.G387G	NLRP4_uc002qmf.3_Silent_p.G312G|NLRP4_uc010etf.3_Silent_p.G218G	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	387	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GTGCCGAGGGCCCGACTCCGC	0.562													12	18					0	0	0.09319	0	0	T	56369920	C	T	56369920	2	4	62	1	0	0	0	0	0	0	0	1	10479	726	26	3		3	NLRP4	19	56369920	Silent	SNP	C	TCGA-DU-5870-01A-11D-1705-08	13578163	56369920	2759063	16	2667											
FBLN1	2192	broad.mit.edu	37	chr22	45996261	45996261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggagatgaactatgtggtcGggggcgtggtctcccaccga	7	9	16	9	3	1	2	0	1	1	1	3	4	1	2	2	5	1	0	2	5	2	1			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr22:45996261G>A	uc003bgj.1	+	16	2194	c.2047G>A	c.(2047-2049)Ggg>Agg	p.G683R	FBLN1_uc003bgk.1_Non-coding_Transcript	NM_006486	NP_006477	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant D, mRNA.	683					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	p.G683G(1)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CTATGTGGTCGGGGGCGTGGT	0.612													24	250					0	0	0.069288	0	0	A	45996261	G	A	45996261	3	1	62	1	0	0	0	0	1	0	0	0	5698	1116	39	2	2593	2	FBLN1	22	45996261	Missense_Mutation	SNP	G	TCGA-DU-5870-01A-11D-1705-08		45996261	5308305	17	2668											
IL23R	149233	broad.mit.edu	37	chr1	67672664	67672664	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaagaccataatttatTgggatagtcaaacaacaatt	16	11	6	8	0	1	1	1	0	0	1	1	2	1	2	2	1	3	0	2	1	7	6			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr1:67672664T>C	uc001ddo.3	+	5	809	c.724T>C	c.(724-726)Tgg>Cgg	p.W242R	IL23R_uc009waz.3_Missense_Mutation_p.W39R|IL23R_uc001ddp.2_Non-coding_Transcript|IL23R_uc010opi.2_Non-coding_Transcript|IL23R_uc010opj.2_5'UTR|IL23R_uc010opk.2_Missense_Mutation_p.W199R|IL23R_uc010opl.2_Intron|IL23R_uc010opm.2_Non-coding_Transcript|IL23R_uc001ddq.3_5'UTR|IL23R_uc010opn.2_Missense_Mutation_p.W87R|IL23R_uc001ddr.3_Non-coding_Transcript|IL23R_uc010opo.1_Missense_Mutation_p.W101R|IL23R_uc010opp.1_Intron|IL23R_uc010opq.1_Missense_Mutation_p.W101R|IL23R_uc010opr.1_Non-coding_Transcript|IL23R_uc010oqh.2_Intron|IL23R_uc010oqf.2_5'UTR|IL23R_uc010ops.2_Missense_Mutation_p.W39R|IL23R_uc010opt.2_5'UTR|IL23R_uc010opu.2_Intron|IL23R_uc010opv.2_Intron|IL23R_uc010opw.2_5'UTR|IL23R_uc010opx.2_Intron|IL23R_uc010opy.2_Missense_Mutation_p.W39R|IL23R_uc010opz.2_Intron|IL23R_uc010oqa.2_Intron|IL23R_uc010oqb.2_Missense_Mutation_p.W101R|IL23R_uc010oqc.2_5'UTR|IL23R_uc010oqd.2_Intron|IL23R_uc010oqe.2_5'UTR|IL23R_uc010oqg.2_5'UTR|IL23R_uc001dds.3_5'Flank|IL23R_uc001ddt.3_5'Flank	NM_144701	NP_653302	Q5VWK5	IL23R_HUMAN	Homo sapiens interleukin 23 receptor (IL23R), mRNA.	242	Fibronectin type-III 2.				inflammatory response|negative regulation of interleukin-10 production|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						CATAATTTATTGGGATAGTCA	0.353													10	40					0	0	0.058154	0	0	C	67672664	T	C	67672664	3	2	63	1	0	0	0	0	1	0	0	0	7676	1812	63	3	742	3	IL23R	1	67672664	Missense_Mutation	SNP	T	TCGA-DU-5871-01A-12D-1705-08		67672664	181577957	1	2669											
EPHX4	253152	broad.mit.edu	37	chr1	92495797	92495797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcgcagaccttccggcggcCcgcccgggagcaccctcccg	4	3	14	20	6	0	1	0	0	0	1	2	2	2	2	6	4	1	2	6	4	0	1			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr1:92495797C>T	uc001don.2	+	0	265	c.161C>T	c.(160-162)cCc>cTc	p.P54L		NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN	Homo sapiens epoxide hydrolase 4 (EPHX4), mRNA.	54						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TTCCGGCGGCCCGCCCGGGAG	0.706													3	3					0	0	0.150653	0	0	T	92495797	C	T	92495797	3	4	63	1	0	0	0	0	1	0	0	0	5182	623	22	3	163	3	EPHX4	1	92495797	Missense_Mutation	SNP	C	TCGA-DU-5871-01A-12D-1705-08	24823133	92495797	156754824	2	2670											
HMCN1	83872	broad.mit.edu	37	chr1	186105940	186105940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actctatttcctgggatgacCgggttaacgtgttgtccaac	8	13	10	10	2	1	1	0	1	1	0	3	2	3	2	3	2	2	2	3	2	3	4			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr1:186105940C>T	uc001grq.1	+	86	13682	c.13453C>T	c.(13453-13455)Cgg>Tgg	p.R4485W	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.R54W	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4485	Ig-like C2-type 44.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTGGGATGACCGGGTTAACGT	0.428													11	47					0	0	0.069234	0	0	T	186105940	C	T	186105940	3	4	63	1	0	0	0	0	1	0	0	0	7220	643	23	2	13799	2	HMCN1	1	186105940	Missense_Mutation	SNP	C	TCGA-DU-5871-01A-12D-1705-08	93610143	186105940	63144681	3	2671											
DQX1	165545	broad.mit.edu	37	chr2	74747092	74747092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaactgtggtcaccatccGtgtgttccagggcccgacgc	7	8	13	13	3	1	1	1	0	0	1	3	3	3	1	4	2	1	1	4	2	1	1			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr2:74747092G>A	uc010yrw.2	-	8	1730	c.1565C>T	c.(1564-1566)aCg>aTg	p.T522M	DQX1_uc002smc.3_Missense_Mutation_p.T83M	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	Homo sapiens DEAQ box RNA-dependent ATPase 1 (DQX1), mRNA.	522						nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GTCACCATCCGTGTGTTCCAG	0.512													10	111					0	0	0.080935	0	0	A	74747092	G	A	74747092	3	1	63	1	0	0	0	0	1	0	0	0	4751	1145	40	1	604	1	DQX1	2	74747092	Missense_Mutation	SNP	G	TCGA-DU-5871-01A-12D-1705-08		74747092	168452281	4	2672											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr2:209113113G>C	uc002vcs.3	-	3	640	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_uc002vct.3_Missense_Mutation_p.R132G|IDH1_uc002vcu.3_Missense_Mutation_p.R132G	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								39	50					0	0	0.080422	0	0	C	209113113	G	C	209113113	3	2	63	1	0	0	0	0	1	0	0	0	7494	1058	37	5	878	5	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-DU-5871-01A-12D-1705-08	134366021	209113113	34086260	5	2673											
GPRIN3	285513	broad.mit.edu	37	chr4	90169964	90169964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctcccatcttctttacacGtatgctgggcattactggag	8	13	8	12	1	2	0	0	0	2	0	3	1	3	1	2	2	3	3	2	2	3	5			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr4:90169964G>A	uc003hsm.1	-	1	1817	c.1298C>T	c.(1297-1299)aCg>aTg	p.T433M	GPRIN3_uc021xqb.1_Missense_Mutation_p.T433M	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.	433										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TTCTTTACACGTATGCTGGGC	0.468													17	100					0	0	0.175082	0	0	A	90169964	G	A	90169964	3	1	63	1	0	0	0	0	1	0	0	0	6731	1145	40	1	1036	1	GPRIN3	4	90169964	Missense_Mutation	SNP	G	TCGA-DU-5871-01A-12D-1705-08		90169964	100984312	6	2674											
RXFP1	59350	broad.mit.edu	37	chr4	159533494	159533494	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccaccaacattttatggActaaattctcttattctctt	10	17	2	12	0	2	0	0	0	2	0	5	1	3	1	3	1	1	0	3	1	5	7			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr4:159533494A>C	uc003ipz.3	+	7	923	c.660A>C	c.(658-660)ggA>ggC	p.G220G	RXFP1_uc010iqj.2_Silent_p.G49G|RXFP1_uc010iqk.3_Silent_p.G88G|RXFP1_uc011cja.2_Silent_p.G139G|RXFP1_uc010iqo.3_Silent_p.G220G|RXFP1_uc011cjb.2_Silent_p.G166G|RXFP1_uc011cjc.2_Silent_p.G139G|RXFP1_uc011cjd.2_Silent_p.G139G|RXFP1_uc010iql.3_Silent_p.G88G|RXFP1_uc011cje.2_Silent_p.G247G|RXFP1_uc010iqm.3_Silent_p.G187G|RXFP1_uc011cjf.2_Silent_p.G90G|RXFP1_uc010iqn.3_Silent_p.G166G	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	220						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CATTTTATGGACTAAATTCTC	0.274													8	17					0	0	0.047766	0	0	C	159533494	A	C	159533494	2	2	63	1	0	0	0	0	0	0	0	1	13759	262	10	5		5	RXFP1	4	159533494	Silent	SNP	A	TCGA-DU-5871-01A-12D-1705-08	69363530	159533494	31620782	7	2675											
SLCO4C1	353189	broad.mit.edu	37	chr5	101585438	101585438	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggataataatatgatcgCgaacagttacaattggcatt	16	11	8	6	2	0	1	0	1	0	0	1	3	0	2	0	2	2	2	0	2	6	6			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr5:101585438C>T	uc003knm.3	-	8	1811	c.1524G>A	c.(1522-1524)tcG>tcA	p.S508S		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	508	Kazal-like.				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity	p.S508L(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AATATGATCGCGAACAGTTAC	0.408													33	31					0	0	0.064281	0	0	T	101585438	C	T	101585438	2	4	63	1	0	0	0	0	0	0	0	1	14730	755	27	1		1	SLCO4C1	5	101585438	Silent	SNP	C	TCGA-DU-5871-01A-12D-1705-08		101585438	79329822	8	2676											
ADRB2	154	broad.mit.edu	37	chr5	148207421	148207421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaggagcttctgtgcctgCgcaggtcttctttgaaggcc	5	12	12	12	1	3	1	0	1	3	0	4	2	4	2	3	3	3	2	3	3	1	3			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr5:148207421C>T	uc003lpr.2	+	0	1266	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	Homo sapiens adrenergic, beta-2-, receptor, surface (ADRB2), mRNA.	343					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	TCTGTGCCTGCGCAGGTCTTC	0.493													6	37					0	0	0.021553	0	0	T	148207421	C	T	148207421	3	4	63	1	0	0	0	0	1	0	0	0	341	768	27	1	1029	1	ADRB2	5	148207421	Missense_Mutation	SNP	C	TCGA-DU-5871-01A-12D-1705-08	46621983	148207421	32707839	9	2677											
TSC22D4	81628	broad.mit.edu	37	chr7	100064708	100064708	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctgctccagcgcagcgttCcgctccgccaattcccggat	5	9	9	18	5	0	0	0	0	0	0	5	1	5	1	6	1	3	4	6	1	1	2			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr7:100064708C>A	uc003uva.3	-	4	1817	c.1062G>T	c.(1060-1062)cgG>cgT	p.R354R	C7orf61_uc003uuz.1_5'Flank|TSC22D4_uc011kjv.2_Silent_p.R115R|TSC22D4_uc010lgx.3_Silent_p.R354R	NM_030935	NP_112197	Q9Y3Q8	T22D4_HUMAN	Homo sapiens TSC22 domain family, member 4 (TSC22D4), mRNA.	354	Leucine-zipper.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCGCAGCGTTCCGCTCCGCCA	0.697													10	25					7.48243e-07	7.99259e-07	0.058154	1	0	A	100064708	C	A	100064708	2	1	63	1	0	0	0	0	0	0	0	1	16607	842	30	5		5	TSC22D4	7	100064708	Silent	SNP	C	TCGA-DU-5871-01A-12D-1705-08		100064708	59073955	10	2678											
PCM1	5108	broad.mit.edu	37	chr8	17796415	17796415	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaacgattggatcagcacAgtgtaaagagttgtttgctt	13	12	11	5	1	1	2	1	0	0	2	1	4	1	3	0	1	3	5	0	1	3	5			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr8:17796415A>G	uc022asj.1	+	2	531	c.509A>G	c.(508-510)cAg>cGg	p.Q170R	PCM1_uc003wyi.4_Missense_Mutation_p.Q170R|PCM1_uc011kyh.2_Missense_Mutation_p.Q170R|PCM1_uc003wyj.4_Missense_Mutation_p.Q170R|PCM1_uc003wyg.2_Missense_Mutation_p.Q170R|PCM1_uc003wyh.3_Missense_Mutation_p.Q170R|PCM1_uc010lta.1_Missense_Mutation_p.Q170R	NM_006197	NP_006188	Q15154	PCM1_HUMAN	Homo sapiens pericentriolar material 1 (PCM1), mRNA.	170					G2/M transition of mitotic cell cycle|centrosome organization|cilium assembly|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GGATCAGCACAGTGTAAAGAG	0.438			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								5	45					0	0	0.021553	0	0	G	17796415	A	G	17796415	3	3	63	1	0	0	0	0	1	0	0	0	11584	188	7	4	519	4	PCM1	8	17796415	Missense_Mutation	SNP	A	TCGA-DU-5871-01A-12D-1705-08		17796415	128567607	11	2679											
PIWIL2	55124	broad.mit.edu	37	chr8	22173813	22173813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaccccagtagaggcatgcGctccgtggttggcttcgtgg	5	10	15	11	3	0	2	0	1	0	1	2	2	1	2	3	4	1	5	3	4	1	3			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr8:22173813G>A	uc003xbn.2	+	18	2412	c.2264G>A	c.(2263-2265)cGc>cAc	p.R755H	PIWIL2_uc011kzf.1_Missense_Mutation_p.R755H|PIWIL2_uc010ltv.2_Missense_Mutation_p.R755H	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.	755	Piwi.				DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AGAGGCATGCGCTCCGTGGTT	0.413													18	21					0	0	0.055883	0	0	A	22173813	G	A	22173813	3	1	63	1	0	0	0	0	1	0	0	0	11958	1087	38	1	2334	1	PIWIL2	8	22173813	Missense_Mutation	SNP	G	TCGA-DU-5871-01A-12D-1705-08	4377398	22173813	124190209	12	2680											
CNTFR	1271	broad.mit.edu	37	chr9	34556300	34556300	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggtagcgcagaaagaactTgagaggaaaagactcagggt	15	6	14	6	2	1	4	1	1	0	4	2	6	1	5	0	3	2	2	0	3	5	2			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr9:34556300T>C	uc003zup.2	-	6	1015	c.721A>G	c.(721-723)Aag>Gag	p.K241E	CNTFR_uc003zuq.2_Missense_Mutation_p.K241E|CNTFR_uc022bgg.1_Missense_Mutation_p.K241E	NM_147164	NP_671693	P26992	CNTFR_HUMAN	Homo sapiens ciliary neurotrophic factor receptor (CNTFR), transcript variant 1, mRNA.	241	Fibronectin type-III 2.				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		AGAAAGAACTTGAGAGGAAAA	0.607													9	21					0	0	0.047766	0	0	C	34556300	T	C	34556300	3	2	63	1	0	0	0	0	1	0	0	0	3638	1821	63	3	413	3	CNTFR	9	34556300	Missense_Mutation	SNP	T	TCGA-DU-5871-01A-12D-1705-08		34556300	106657131	13	2681											
RHOBTB1	9886	broad.mit.edu	37	chr10	62648196	62648196	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactggagcagggtccgaaaAgggcctggctggactgaagc	11	5	16	9	1	0	1	0	1	0	0	1	4	1	3	2	5	3	2	2	5	4	0			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr10:62648196A>G	uc001jli.3	-	6	1668	c.1230T>C	c.(1228-1230)ccT>ccC	p.P410P	RHOBTB1_uc009xpe.2_Silent_p.P348P|RHOBTB1_uc001jlh.3_Silent_p.P410P|RHOBTB1_uc001jlj.3_Silent_p.P410P|RHOBTB1_uc001jlk.3_Silent_p.P410P	NM_001242359	NP_001229288	O94844	RHBT1_HUMAN	Homo sapiens Rho-related BTB domain containing 1 (RHOBTB1), transcript variant 4, mRNA.	410	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					GGGTCCGAAAAGGGCCTGGCT	0.537													3	62					0	0	0.115264	0	0	G	62648196	A	G	62648196	2	3	63	1	0	0	0	0	0	0	0	1	13333	59	3	4		4	RHOBTB1	10	62648196	Silent	SNP	A	TCGA-DU-5871-01A-12D-1705-08		62648196	72886551	14	2682											
SLC16A12	387700	broad.mit.edu	37	chr10	91192821	91192821	+	Nonstop_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggctcaaggcctttggTcatgtgaggctgtagccagg	6	10	16	9	0	2	1	2	1	0	0	2	1	2	1	2	6	1	3	2	6	2	2			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr10:91192821T>C	uc001kgm.3	-	7	1852	c.1551A>G	c.(1549-1551)tgA>tgG	p.*517W	SLC16A12_uc001kgl.3_Nonstop_Mutation_p.*159W	NM_213606	NP_998771	Q6ZSM3	MOT12_HUMAN	Homo sapiens solute carrier family 16, member 12 (monocarboxylic acid transporter 12) (SLC16A12), mRNA.	0						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						AGGCCTTTGGTCATGTGAGGC	0.478													22	50					0	0	0.062417	0	0	C	91192821	T	C	91192821	4	2	63	1	0	0	0	0	0	0	0	0	14405	1680	58	3	3	3	SLC16A12	10	91192821	Nonstop_Mutation	SNP	T	TCGA-DU-5871-01A-12D-1705-08	28544625	91192821	44341926	15	2683											
OR5M10	390167	broad.mit.edu	37	chr11	56345128	56345128	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caccccaaacaggatcttctCtagcactgggtcgtctgtca	9	10	8	14	1	4	0	1	0	3	0	6	1	4	1	2	2	2	1	2	2	2	2			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr11:56345128C>G	uc001niz.1	-	0	70	c.70G>C	c.(70-72)Gag>Cag	p.E24Q	OR8U8_uc001nit.2_Intron	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						AGGATCTTCTCTAGCACTGGG	0.463													16	105					0	0	0.160694	0	0	G	56345128	C	G	56345128	3	3	63	1	0	0	0	0	1	0	0	0	11173	922	32	5	881	5	OR5M10	11	56345128	Missense_Mutation	SNP	C	TCGA-DU-5871-01A-12D-1705-08		56345128	78661388	16	2684											
GANAB	23193	broad.mit.edu	37	chr11	62396710	62396710	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccccaagctgagacacataGgaatagagatcttcaaatgg	15	7	10	9	0	2	2	1	1	1	2	2	5	2	3	2	2	1	1	2	2	5	3			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr11:62396710G>C	uc001nua.3	-	16	1991	c.1958C>G	c.(1957-1959)cCt>cGt	p.P653R	GANAB_uc001nub.3_Missense_Mutation_p.P631R|GANAB_uc001nuc.3_Missense_Mutation_p.P534R|GANAB_uc010rma.2_Missense_Mutation_p.P539R|GANAB_uc010rmb.2_Missense_Mutation_p.P517R	NM_198335	NP_938149	Q14697	GANAB_HUMAN	Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.	631					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	Golgi apparatus|endoplasmic reticulum lumen|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						GAGACACATAGGAATAGAGAT	0.537													3	69					0	0	0.115264	0	0	C	62396710	G	C	62396710	3	2	63	1	0	0	0	0	1	0	0	0	6233	1000	35	5	978	5	GANAB	11	62396710	Missense_Mutation	SNP	G	TCGA-DU-5871-01A-12D-1705-08	6051582	62396710	72609806	17	2685											
SNX15	29907	broad.mit.edu	37	chr11	64803113	64803113	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accgaggctgagcttgccctCttcgaccccttctccaagga	7	9	9	16	2	2	1	0	1	2	0	4	4	2	2	5	2	2	2	5	2	1	3			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr11:64803113C>T	uc001oci.4	+	8	1296	c.642C>T	c.(640-642)ctC>ctT	p.L214L	SNX15_uc001ock.3_Silent_p.L214L	NM_013306	NP_037438	Q9NRS6	SNX15_HUMAN	Homo sapiens sorting nexin 15 (SNX15), transcript variant A, mRNA.	214					cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						AGCTTGCCCTCTTCGACCCCT	0.647													4	120					0	0	0.014758	0	0	T	64803113	C	T	64803113	2	4	63	1	0	0	0	0	0	0	0	1	14886	900	32	3		3	SNX15	11	64803113	Silent	SNP	C	TCGA-DU-5871-01A-12D-1705-08	2406403	64803113	70203403	18	2686											
MSI1	4440	broad.mit.edu	37	chr12	120784021	120784021	+	Frame_Shift_Del	DEL	C	C	-																															ccccgagtcctggttggccgCcccgtagagctcggccatgg																										TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr12:120784021delC	uc001tye.1	-	12	1028	c.964delG	c.(964-966)gcgfs	p.A322fs		NM_002442	NP_002433	O43347	MSI1H_HUMAN	Homo sapiens musashi homolog 1 (Drosophila) (MSI1), mRNA.	322					nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGTTGGCCGCCCCGTAGAGC	0.706													2	4	---	---	---	---						-	120784021	C	-	120784021	7	5	63	1	0	1	0	1	0	0	0	0	9875	739	26	0	132	0	MSI1	12	120784021	Frame_Shift_Del	DEL	C	TCGA-DU-5871-01A-12D-1705-08		120784021	13067874	19	2687											
TPTE2	93492	broad.mit.edu	37	chr13	20039401	20039401	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taagtgtcacaaacctgtaaCgtaagtgaggtctaggtcaa	14	10	10	7	1	3	1	2	1	1	0	3	1	3	1	1	2	2	2	1	2	6	4			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr13:20039401C>T	uc001umd.3	-	9	881	c.670G>A	c.(670-672)Gtt>Att	p.V224I	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.V113I|TPTE2_uc001ume.3_Missense_Mutation_p.V147I|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	224	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.F223S(1)|p.T224T(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAACCTGTAACGTAAGTGAGG	0.323													7	192					0	0	0.038147	0	0	T	20039401	C	T	20039401	3	4	63	1	0	0	0	0	1	0	0	0	16428	536	19	1	946	1	TPTE2	13	20039401	Missense_Mutation	SNP	C	TCGA-DU-5871-01A-12D-1705-08		20039401	95130477	20	2688											
NRXN3	9369	broad.mit.edu	37	chr14	79933737	79933737	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacttggtgacttcctccagCttcacatagtgagtacaggg	9	11	11	10	0	1	2	1	2	0	0	3	3	3	2	2	2	2	2	2	2	2	5			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr14:79933737C>G	uc001xun.3	+	12	2808	c.2317C>G	c.(2317-2319)Ctt>Gtt	p.L773V	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc001xup.2_Non-coding_Transcript|NRXN3_uc001xuq.2_Missense_Mutation_p.L141V|NRXN3_uc010asw.3_Missense_Mutation_p.L141V|NRXN3_uc001xur.4_Missense_Mutation_p.L141V	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	141					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTTCCTCCAGCTTCACATAGT	0.522													5	36					0	0	0.014758	0	0	G	79933737	C	G	79933737	3	3	63	1	0	0	0	0	1	0	0	0	10667	797	28	5	2610	5	NRXN3	14	79933737	Missense_Mutation	SNP	C	TCGA-DU-5871-01A-12D-1705-08		79933737	27415803	21	2689											
RIN3	79890	broad.mit.edu	37	chr14	93118181	93118181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attgccctgcacgccctttgCcgcccacctctgatgccacc	5	9	7	20	2	1	1	0	1	1	0	1	1	1	1	7	0	4	1	7	0	0	2			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr14:93118181C>T	uc001yap.3	+	5	939	c.787C>T	c.(787-789)Ccg>Tcg	p.P263S	RIN3_uc010auk.3_5'UTR|RIN3_uc001yaq.3_Missense_Mutation_p.P188S|RIN3_uc001yar.1_5'UTR|RIN3_uc001yas.1_5'UTR	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	263	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				ACGCCCTTTGCCGCCCACCTC	0.667													3	51					0	0	0.115264	0	0	T	93118181	C	T	93118181	3	4	63	1	0	0	0	0	1	0	0	0	13373	739	26	3	809	3	RIN3	14	93118181	Missense_Mutation	SNP	C	TCGA-DU-5871-01A-12D-1705-08	13184444	93118181	14231359	22	2690											
XYLT1	64131	broad.mit.edu	37	chr16	17228396	17228396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaagacccaggcgggcaaagGagtggtacaaggtgagtgtc	12	5	17	7	1	0	2	0	1	0	1	1	4	0	3	1	5	1	2	1	5	4	1			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr16:17228396G>A	uc002dfa.3	-	8	2046	c.1961C>T	c.(1960-1962)tCc>tTc	p.S654F		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	654					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCGGGCAAAGGAGTGGTACAA	0.627													20	53					0	0	0.049695	0	0	A	17228396	G	A	17228396	3	1	63	1	0	0	0	0	1	0	0	0	17460	1174	41	3	934	3	XYLT1	16	17228396	Missense_Mutation	SNP	G	TCGA-DU-5871-01A-12D-1705-08		17228396	73126357	23	2691											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			23	6					0	0	0.069288	0	0	A	7577121	G	A	7577121	3	1	63	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DU-5871-01A-12D-1705-08		7577121	73618089	24	2692											
SLC6A4	6532	broad.mit.edu	37	chr17	28534827	28534827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccgagcatttccttcaCgtccctgcagaactgagtga	10	9	10	12	2	1	3	1	2	0	1	3	5	3	3	3	0	4	2	3	0	2	2			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr17:28534827C>T	uc002hey.4	-	12	2117	c.1573G>A	c.(1573-1575)Gtg>Atg	p.V525M	SLC6A4_uc010csg.3_Non-coding_Transcript	NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	525					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	ATTTCCTTCACGTCCCTGCAG	0.582													3	16					0	0	0.115264	0	0	T	28534827	C	T	28534827	3	4	63	1	0	0	0	0	1	0	0	0	14686	536	19	1	331	1	SLC6A4	17	28534827	Missense_Mutation	SNP	C	TCGA-DU-5871-01A-12D-1705-08	20957706	28534827	52660383	25	2693											
FASN	2194	broad.mit.edu	37	chr17	80043423	80043423	+	Frame_Shift_Del	DEL	G	G	-																															gaaggccacgatgtccccgaGggggtgcccccggagcagtg																										TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr17:80043423delG	uc002kdu.3	-	22	4174	c.4057delC	c.(4057-4059)ctcfs	p.L1353fs	FASN_uc002kdw.1_Frame_Shift_Del_p.L569fs	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	1353				LGDI -> SGH (in Ref. 2; AAA73576).	energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	ATGTCCCCGAGGGGGTGCCCC	0.706													2	4	---	---	---	---						-	80043423	G	-	80043423	7	5	63	1	0	1	0	1	0	0	0	0	5683	1000	35	0	3562	0	FASN	17	80043423	Frame_Shift_Del	DEL	G	TCGA-DU-5871-01A-12D-1705-08	51508596	80043423	1151787	26	2694											
BSG	682	broad.mit.edu	37	chr19	578038	578038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacttacgagtgccgggccaGcaacgacccggatcgcaacc	10	4	11	16	5	0	0	0	0	0	0	1	3	0	1	4	2	5	2	4	2	3	1			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr19:578038G>A	uc002loz.3	+	1	430	c.332G>A	c.(331-333)aGc>aAc	p.S111N	BSG_uc002loy.3_Intron|BSG_uc021ulx.1_Intron|BSG_uc002lpa.3_Intron|BSG_uc002lpc.3_5'Flank	NM_001728	NP_001719	P35613	BASI_HUMAN	Homo sapiens basigin (Ok blood group) (BSG), transcript variant 1, mRNA.	111					blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		TGCCGGGCCAGCAACGACCCG	0.682													12	8					0	0	0.09319	0	0	A	578038	G	A	578038	3	1	63	1	0	0	0	0	1	0	0	0	1529	971	34	3	374	3	BSG	19	578038	Missense_Mutation	SNP	G	TCGA-DU-5871-01A-12D-1705-08		578038	58550945	27	2695											
ZNF77	58492	broad.mit.edu	37	chr19	2933527	2933527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacatgtgcttgaagcgatGcgagatacctgaaggttttc	10	12	11	8	2	1	3	1	2	0	1	2	5	1	3	1	1	4	2	1	1	3	4			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr19:2933527G>A	uc002lws.4	-	3	1729	c.1598C>T	c.(1597-1599)gCa>gTa	p.A533V		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	Homo sapiens zinc finger protein 77 (ZNF77), mRNA.	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGAAGCGATGCGAGATACCT	0.493													18	77					0	0	0.175082	0	0	A	2933527	G	A	2933527	3	1	63	1	0	0	0	0	1	0	0	0	18139	1319	46	3	43	3	ZNF77	19	2933527	Missense_Mutation	SNP	G	TCGA-DU-5871-01A-12D-1705-08	2355489	2933527	56195456	28	2696											
GIPC3	126326	broad.mit.edu	37	chr19	3589856	3589856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtttgaggaggaggcatctCggaaggttgatgacctgctg	9	10	16	6	1	1	3	0	3	1	0	2	6	1	6	1	5	1	4	1	5	1	2			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr19:3589856C>T	uc002lyd.4	+	4	760	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W		NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 3 (GIPC3), mRNA.	245										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGGCATCTCGGAAGGTTGA	0.657													15	86					0	0	0.043863	0	0	T	3589856	C	T	3589856	3	4	63	1	0	0	0	0	1	0	0	0	6394	875	31	2	751	2	GIPC3	19	3589856	Missense_Mutation	SNP	C	TCGA-DU-5871-01A-12D-1705-08	656329	3589856	55539127	29	2697											
NOTCH3	4854	broad.mit.edu	37	chr19	15276774	15276774	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggtcagtccgtgccccaaGctgagccccctggcagatca	8	6	11	16	2	2	2	2	1	0	1	3	2	3	2	5	2	3	2	5	2	1	0			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr19:15276774G>C	uc002nan.3	-	29	5567	c.5491C>G	c.(5491-5493)Ctt>Gtt	p.L1831V		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1831					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.Q1830*(1)		breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CGTGCCCCAAGCTGAGCCCCC	0.612													4	32					0	0	0.014758	0	0	C	15276774	G	C	15276774	3	2	63	1	0	0	0	0	1	0	0	0	10550	971	34	5	1490	5	NOTCH3	19	15276774	Missense_Mutation	SNP	G	TCGA-DU-5871-01A-12D-1705-08	11686918	15276774	43852209	30	2698											
LILRB4	11006	broad.mit.edu	37	chr19	55178179	55178179	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaacacacagcctgaggaCggggtggaaatggacactcg	14	4	14	9	2	0	2	0	1	0	1	1	5	0	5	1	5	2	0	1	5	3	0	rs149652762	byFrequency	TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr19:55178179C>T	uc002qgp.3	+	9	1382	c.1020C>T	c.(1018-1020)gaC>gaT	p.D340D	LILRB4_uc002qgq.3_Silent_p.D340D|LILRB4_uc010ert.3_Silent_p.D382D|LILRB4_uc010eru.3_Silent_p.D370D	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	340						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		AGCCTGAGGACGGGGTGGAAA	0.607													48	51					0	0	0.139131	0	0	T	55178179	C	T	55178179	2	4	63	1	0	0	0	0	0	0	0	1	8793	535	19	1		1	LILRB4	19	55178179	Silent	SNP	C	TCGA-DU-5871-01A-12D-1705-08	39901405	55178179	3950804	31	2699											
LRRN4	164312	broad.mit.edu	37	chr20	6033166	6033166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgctccaggtggccgagctCggaagtgctcagggcgcgca	6	6	16	13	4	1	0	1	0	0	0	3	2	2	1	2	4	3	4	2	4	1	0			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr20:6033166C>T	uc002wmo.2	-	1	504	c.280G>A	c.(280-282)Gag>Aag	p.E94K	LRRN4_uc002wmp.3_Missense_Mutation_p.E94K	NM_152611	NP_689824	Q8WUT4	LRRN4_HUMAN	Homo sapiens leucine rich repeat neuronal 4 (LRRN4), mRNA.	94						integral to membrane		p.E94K(2)		breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						TGGCCGAGCTCGGAAGTGCTC	0.741													3	9					0	0	0.115264	0	0	T	6033166	C	T	6033166	3	4	63	1	0	0	0	0	1	0	0	0	9037	893	31	2	1958	2	LRRN4	20	6033166	Missense_Mutation	SNP	C	TCGA-DU-5871-01A-12D-1705-08		6033166	56992354	32	2700											
RPRD1B	58490	broad.mit.edu	37	chr20	36694642	36694642	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaagatgttttgtcggagaAggagaaaaaactagaggtga	17	8	14	2	1	0	5	0	1	0	4	1	8	0	5	0	3	1	1	0	3	6	3			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr20:36694642A>C	uc002xho.4	+	5	1217	c.815A>C	c.(814-816)aAg>aCg	p.K272T	RPRD1B_uc002xhp.4_Non-coding_Transcript	NM_021215	NP_067038	Q9NQG5	RPR1B_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 1B (RPRD1B), mRNA.	272										endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						TTGTCGGAGAAGGAGAAAAAA	0.488													12	116					0	0	0.146539	0	0	C	36694642	A	C	36694642	3	2	63	1	0	0	0	0	1	0	0	0	13616	72	3	5	837	5	RPRD1B	20	36694642	Missense_Mutation	SNP	A	TCGA-DU-5871-01A-12D-1705-08	30661476	36694642	26330878	33	2701											
LAMA5	3911	broad.mit.edu	37	chr20	60897105	60897105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgctgtggcccacaggccCgcctggaacaggcacctgat	8	6	13	14	1	0	1	0	1	0	0	0	3	0	2	4	4	2	2	4	4	1	0			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr20:60897105C>T	uc002ycq.3	-	47	6533	c.6466G>A	c.(6466-6468)Ggg>Agg	p.G2156R	LAMA5_uc021wfw.1_Missense_Mutation_p.G2156R	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	2156	Laminin EGF-like 22.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCACAGGCCCGCCTGGAACA	0.657													9	31					0	0	0.069234	0	0	T	60897105	C	T	60897105	3	4	63	1	0	0	0	0	1	0	0	0	8609	652	23	2	4753	2	LAMA5	20	60897105	Missense_Mutation	SNP	C	TCGA-DU-5871-01A-12D-1705-08	24202463	60897105	2128415	34	2702											
CBR3	874	broad.mit.edu	37	chr21	37518618	37518618	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggccaggcgtctggatgaGaagaggaaagctgacaggat	12	6	16	7	1	1	3	0	2	1	2	1	7	1	6	1	5	1	1	1	5	2	0			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr21:37518618G>A	uc002yve.3	+	2	870	c.642G>A	c.(640-642)gaG>gaA	p.E214E	CBR3-AS1_uc002yvc.2_Non-coding_Transcript|CBR3-AS1_uc002yvd.2_Non-coding_Transcript|CBR3-AS1_uc002yvf.2_Non-coding_Transcript	NM_001236	NP_001227	O75828	CBR3_HUMAN	Homo sapiens carbonyl reductase 3 (CBR3), mRNA.	214						cytosol|nucleus	NADPH binding|carbonyl reductase (NADPH) activity			kidney(1)|large_intestine(1)|lung(1)	3						GTCTGGATGAGAAGAGGAAAG	0.567													5	18					0	0	0.014758	0	0	A	37518618	G	A	37518618	2	1	63	1	0	0	0	0	0	0	0	1	2709	933	33	3		3	CBR3	21	37518618	Silent	SNP	G	TCGA-DU-5871-01A-12D-1705-08		37518618	10611277	35	2703											
FAM123B	139285	broad.mit.edu	37	chrX	63411822	63411822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaaaagttccccaggggCtaggccaggataagacctaa	14	6	11	10	0	1	1	1	0	0	1	2	2	2	2	4	4	0	2	4	4	5	4			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chrX:63411822C>T	uc022byb.1	-	0	1345	c.1345G>A	c.(1345-1347)Gcc>Acc	p.A449T	FAM123B_uc004dvo.3_Missense_Mutation_p.A449T	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	449					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						TCCCCAGGGGCTAGGCCAGGA	0.537													25	37					0	0	0.083992	0	0	T	63411822	C	T	63411822	3	4	63	1	0	0	0	0	1	0	0	0	5423	797	28	3	2066	3	FAM123B	23	63411822	Missense_Mutation	SNP	C	TCGA-DU-5871-01A-12D-1705-08		63411822	91858738	36	2704											
ATRX	546	broad.mit.edu	37	chrX	76940443	76940447	+	Frame_Shift_Del	DEL	TCCAT	TCCAT	-																															ttacctacctacattgttcaTccattccatctgagtcacgg																								rs45572441		TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chrX:76940443_76940447delTCCAT	uc004ecp.4	-	7	878_882	c.646_650delATGGA	c.(646-651)atggatfs	p.M216fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.M178fs|ATRX_uc004eco.4_Frame_Shift_Del_p.M1fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.M177fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.M216fs|ATRX_uc010nly.1_Frame_Shift_Del_p.M161fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	216	ADD.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ACATTGTTCATCCATTCCATCTGAG	0.317			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						36	74	---	---	---	---						-	76940447	TCCAT	-	76940443	7	5	63	1	0	1	0	1	0	0	0	0	1208	1435	50	0	6940	0	ATRX	23	76940443	Frame_Shift_Del	DEL	TCCAT	TCGA-DU-5871-01A-12D-1705-08	13528621	76940443	78330117	37	2705											
ATP11C	286410	broad.mit.edu	37	chrX	138850563	138850563	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgtggagccatctatgatTaatccatattcctgatgttc	11	15	7	8	0	1	2	0	2	1	0	4	3	3	3	3	1	1	1	3	1	4	5			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chrX:138850563T>A	uc004faz.3	-	19	2355	c.2256A>T	c.(2254-2256)ttA>ttT	p.L752F	ATP11C_uc004fax.3_5'UTR|ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Missense_Mutation_p.L752F	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	752					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CATCTATGATTAATCCATATT	0.313													19	52					0	0	0.055883	0	0	A	138850563	T	A	138850563	3	1	63	1	0	0	0	0	1	0	0	0	1121	1751	61	5	1249	5	ATP11C	23	138850563	Missense_Mutation	SNP	T	TCGA-DU-5871-01A-12D-1705-08	61910120	138850563	16419997	38	2706											
FAM58A	92002	broad.mit.edu	37	chrX	152853848	152853848	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggatctctgtgtccatggtaTaaatctgaatgagatcagac	12	12	10	7	0	3	3	1	2	2	2	5	5	4	4	1	2	0	1	1	2	4	2			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chrX:152853848T>A	uc011myr.2	-	5	821	c.710A>T	c.(709-711)tAt>tTt	p.Y237F	FAM58A_uc011mys.2_Missense_Mutation_p.Y217F	NM_152274	NP_689487	Q8N1B3	FA58A_HUMAN	Homo sapiens family with sequence similarity 58, member A (FAM58A), transcript variant 1, mRNA.	241					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCCATGGTATAAATCTGAAT	0.483													28	125					0	0	0.163468	0	0	A	152853848	T	A	152853848	3	1	63	1	0	0	0	0	1	0	0	0	5590	1406	49	5	28	5	FAM58A	23	152853848	Missense_Mutation	SNP	T	TCGA-DU-5871-01A-12D-1705-08	14003285	152853848	2416712	39	2707											
RERE	473	broad.mit.edu	37	chr1	8421423	8421423	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgtcctgggggctggggAtgctcggggacgtgctgcga	4	9	19	9	3	0	0	0	0	0	0	2	3	1	2	1	6	3	3	1	6	0	1			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr1:8421423A>G	uc001ape.3	-	18	2954	c.2144T>C	c.(2143-2145)aTc>aCc	p.I715T	RERE_uc001apf.3_Missense_Mutation_p.I715T|RERE_uc010nzx.1_Missense_Mutation_p.I447T|RERE_uc001apd.3_Missense_Mutation_p.I161T	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	715					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGGGCTGGGGATGCTCGGGGA	0.627													22	29					0	0	0.654019	0	0	G	8421423	A	G	8421423	3	3	64	1	0	0	0	0	1	0	0	0	13231	333	12	3	2580	3	RERE	1	8421423	Missense_Mutation	SNP	A	TCGA-DU-5872-01A-11D-1705-08		8421423	240829198	1	2708											
TAS1R2	80834	broad.mit.edu	37	chr1	19166820	19166820	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacatggggcccccagccGagcgaactatgggtgtctgg	8	6	15	12	2	1	0	0	0	1	0	1	2	1	0	3	4	4	1	3	4	2	1			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr1:19166820G>T	uc001bba.1	-	5	1794	c.1793C>A	c.(1792-1794)tCg>tAg	p.S598*		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	598					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GCCCCCAGCCGAGCGAACTAT	0.647													26	42					5.61819e-17	6.24243e-17	0.693898	1	0	T	19166820	G	T	19166820	4	4	64	1	0	0	0	0	0	1	0	0	15560	1059	37	5	730	5	TAS1R2	1	19166820	Nonsense_Mutation	SNP	G	TCGA-DU-5872-01A-11D-1705-08	10745397	19166820	230083801	2	2709											
COL11A1	1301	broad.mit.edu	37	chr1	103380351	103380351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcttcccctttctctcctCtttctcctttgggaccctaa	4	16	4	17	0	3	0	0	0	3	0	7	1	5	1	5	1	1	1	5	1	1	5			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr1:103380351C>T	uc001dum.3	-	50	4187	c.3869G>A	c.(3868-3870)aGa>aAa	p.R1290K	COL11A1_uc001duk.3_Missense_Mutation_p.R474K|COL11A1_uc001dul.3_Missense_Mutation_p.R1278K|COL11A1_uc001dun.3_Missense_Mutation_p.R1239K|COL11A1_uc009weh.3_Missense_Mutation_p.R1162K	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1278	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.R1290T(2)|p.R1278T(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTCTCTCCTCTTTCTCCTTT	0.453													12	20					0	0	0.38729	0	0	T	103380351	C	T	103380351	3	4	64	1	0	0	0	0	1	0	0	0	3667	913	32	3	1655	3	COL11A1	1	103380351	Missense_Mutation	SNP	C	TCGA-DU-5872-01A-11D-1705-08	84213531	103380351	145870270	3	2710											
PIAS3	10401	broad.mit.edu	37	chr1	145585437	145585437	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtaccgagggaccccttctCactttctgggcccactggcc	6	9	10	16	1	2	0	1	0	2	0	3	2	2	1	5	3	1	1	5	3	1	3			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr1:145585437C>G	uc001eoc.1	+	13	1793	c.1702C>G	c.(1702-1704)Cac>Gac	p.H568D	PIAS3_uc001eod.1_Missense_Mutation_p.H237D	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA.	568					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GACCCCTTCTCACTTTCTGGG	0.637													49	52					0	0	0.870114	0	0	G	145585437	C	G	145585437	3	3	64	1	0	0	0	0	1	0	0	0	11877	826	29	5	1756	5	PIAS3	1	145585437	Missense_Mutation	SNP	C	TCGA-DU-5872-01A-11D-1705-08	42205086	145585437	103665184	4	2711											
FAM161A	84140	broad.mit.edu	37	chr2	62067511	62067511	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atctttacagcgaatataatCctcaacacaaaagtctgtcc	15	11	4	11	1	3	0	1	0	2	0	5	1	5	0	2	0	3	0	2	0	7	4			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr2:62067511C>A	uc002sbm.4	-	2	730	c.628G>T	c.(628-630)Gat>Tat	p.D210Y	FAM161A_uc002sbn.4_Missense_Mutation_p.D20Y|FAM161A_uc010ypo.2_Missense_Mutation_p.D210Y|FAM161A_uc010fcm.1_Non-coding_Transcript|FAM161A_uc010fcn.1_Missense_Mutation_p.D101Y	NM_001201543	NP_001188472	Q3B820	F161A_HUMAN	Homo sapiens family with sequence similarity 161, member A (FAM161A), transcript variant 1, mRNA.	210					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CGAATATAATCCTCAACACAA	0.408													67	108					4.67498e-28	5.34283e-28	0.870114	1	0	A	62067511	C	A	62067511	3	1	64	1	0	0	0	0	1	0	0	0	5472	855	30	5	1370	5	FAM161A	2	62067511	Missense_Mutation	SNP	C	TCGA-DU-5872-01A-11D-1705-08		62067511	181131862	5	2712											
BUB1	699	broad.mit.edu	37	chr2	111423902	111423902	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaccacctgatgcaactTcttatgaagttcatccattt	10	14	4	13	0	2	2	1	2	1	0	4	2	4	2	4	0	2	2	4	0	3	4			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr2:111423902T>C	uc002tgc.3	-	8	1007	c.895A>G	c.(895-897)Aag>Gag	p.K299E	BUB1_uc010yxh.2_Missense_Mutation_p.K279E|BUB1_uc010fkb.3_Missense_Mutation_p.K299E|BUB1_uc002tgd.2_Missense_Mutation_p.K299E	NM_004336	NP_004327	O43683	BUB1_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog (yeast) (BUB1), mRNA.	299					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGATGCAACTTCTTATGAAGT	0.428													12	24					0	0	0.38729	0	0	C	111423902	T	C	111423902	3	2	64	1	0	0	0	0	1	0	0	0	1570	1792	62	3	2430	3	BUB1	2	111423902	Missense_Mutation	SNP	T	TCGA-DU-5872-01A-11D-1705-08	49356391	111423902	131775471	6	2713											
WDR33	55339	broad.mit.edu	37	chr2	128522748	128522748	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catctggtgattatcattacCtgtaatattgtttcaaaatt	12	18	5	6	0	3	1	2	1	1	0	3	1	3	1	1	1	1	2	1	1	6	7			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr2:128522748C>G	uc002tpg.2	-	5	673	c.474_splice	c.e5+1	p.Q158_splice	WDR33_uc002tph.2_Splice_Site_p.Q158_splice|WDR33_uc002tpi.2_Splice_Site_p.Q158_splice	NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	158					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TTATCATTACCTGTAATATTG	0.398													13	13					0	0	0.411799	0	0	G	128522748	C	G	128522748	5	3	64	1	0	0	0	0	0	0	1	0	17284	695	24	5	4017	5	WDR33	2	128522748	Splice_Site	SNP	C	TCGA-DU-5872-01A-11D-1705-08	17098846	128522748	114676625	7	2714											
CPO	130749	broad.mit.edu	37	chr2	207814342	207814342	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactttcttccctttgcagaTccttagcccaacacagacaa	11	12	4	14	0	1	2	0	0	1	2	3	2	3	2	3	0	4	1	3	0	4	5			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr2:207814342T>C	uc002vby.2	+	2	115	c.69_splice	c.e2-1	p.R23_splice		NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN	Homo sapiens carboxypeptidase O (CPO), mRNA.	23					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CCTTTGCAGATCCTTAGCCCA	0.473													25	39					0	0	0.654019	0	0	C	207814342	T	C	207814342	5	2	64	1	0	0	0	0	0	0	1	0	3820	1449	50	3	76	3	CPO	2	207814342	Splice_Site	SNP	T	TCGA-DU-5872-01A-11D-1705-08	79291594	207814342	35385031	8	2715											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								29	42					0	0	0.729181	0	0	T	209113112	C	T	209113112	3	4	64	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-5872-01A-11D-1705-08	1298770	209113112	34086261	9	2716											
SPP2	6694	broad.mit.edu	37	chr2	234969077	234969077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcagggcgtgcatgctcGctgcagctggtcctcctcca	4	9	14	14	2	0	0	0	0	0	0	4	0	3	0	3	3	5	6	3	3	0	0			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr2:234969077G>A	uc002vvk.1	+	3	483	c.398G>A	c.(397-399)cGc>cAc	p.R133H	SPP2_uc010fyl.1_Missense_Mutation_p.R53H	NM_006944	NP_008875	Q13103	SPP24_HUMAN	Homo sapiens secreted phosphoprotein 2, 24kDa (SPP2), mRNA.	133					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		GTGCATGCTCGCTGCAGCTGG	0.577													19	34					0	0	0.608945	0	0	A	234969077	G	A	234969077	3	1	64	1	0	0	0	0	1	0	0	0	15086	1087	38	1	412	1	SPP2	2	234969077	Missense_Mutation	SNP	G	TCGA-DU-5872-01A-11D-1705-08	25855965	234969077	8230296	10	2717											
HDAC4	9759	broad.mit.edu	37	chr2	239976491	239976491	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacggacagcgtttgcattGggtctttgctgtaaaacctt	9	13	11	8	2	1	0	0	0	1	0	1	2	1	1	1	2	5	4	1	2	3	5			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr2:239976491G>A	uc002vyk.4	-	24	3819	c.3027C>T	c.(3025-3027)ccC>ccT	p.P1009P	HDAC4_uc010fyy.3_Silent_p.P966P	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	1009	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CGTTTGCATTGGGTCTTTGCT	0.507													34	58					0	0	0.788014	0	0	A	239976491	G	A	239976491	2	1	64	1	0	0	0	0	0	0	0	1	7009	1335	47	3		3	HDAC4	2	239976491	Silent	SNP	G	TCGA-DU-5872-01A-11D-1705-08	5007414	239976491	3222882	11	2718											
PROS1	5627	broad.mit.edu	37	chr3	93624931	93624931	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagaagcttttccatcttTgcagctcatatatccatctt	12	15	4	10	0	3	1	1	0	2	1	5	1	5	1	2	0	3	3	2	0	5	6			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr3:93624931T>C	uc003drb.4	-	4	744	c.403A>G	c.(403-405)Aaa>Gaa	p.K135E	PROS1_uc010hoo.3_Missense_Mutation_p.K4E|PROS1_uc003dqz.4_Missense_Mutation_p.K4E	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	135	EGF-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TTTCCATCTTTGCAGCTCATA	0.408													69	95					0	0	0.870114	0	0	C	93624931	T	C	93624931	3	2	64	1	0	0	0	0	1	0	0	0	12558	1821	63	3	1671	3	PROS1	3	93624931	Missense_Mutation	SNP	T	TCGA-DU-5872-01A-11D-1705-08		93624931	104397499	12	2719											
PLCH1	23007	broad.mit.edu	37	chr3	155200741	155200741	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggctggtatctttgtggAgcagagcactggaggaggat	8	11	16	6	0	1	1	0	0	1	1	1	5	1	5	0	6	2	4	0	6	1	3			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr3:155200741A>G	uc021xge.1	-	22	3375	c.3098T>C	c.(3097-3099)cTc>cCc	p.L1033P	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.L995P	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1033					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ATCTTTGTGGAGCAGAGCACT	0.453													28	53					0	0	0.681144	0	0	G	155200741	A	G	155200741	3	3	64	1	0	0	0	0	1	0	0	0	12037	304	11	4	1987	4	PLCH1	3	155200741	Missense_Mutation	SNP	A	TCGA-DU-5872-01A-11D-1705-08	61575810	155200741	42821689	13	2720											
SPATA16	83893	broad.mit.edu	37	chr3	172631478	172631478	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatattccacacacgttcAttattgtttcttcttccttc	8	19	2	12	1	4	0	2	0	2	0	7	0	6	0	2	0	0	2	2	0	2	9			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr3:172631478A>G	uc003fin.4	-	9	1744	c.1560T>C	c.(1558-1560)aaT>aaC	p.N520N		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	520					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding	p.N519D(1)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			ACACACGTTCATTATTGTTTC	0.373													21	36					0	0	0.654019	0	0	G	172631478	A	G	172631478	2	3	64	1	0	0	0	0	0	0	0	1	15000	214	8	3		3	SPATA16	3	172631478	Silent	SNP	A	TCGA-DU-5872-01A-11D-1705-08	17430737	172631478	25390952	14	2721											
SLC12A7	10723	broad.mit.edu	37	chr5	1088447	1088447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacaccgttggtagcgatcGcactcatggaaatggcggtc	9	8	12	12	4	1	0	1	0	0	0	3	2	1	1	2	4	1	3	2	4	2	2			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr5:1088447G>A	uc003jbu.3	-	4	584	c.518C>T	c.(517-519)gCg>gTg	p.A173V		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	173					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GGTAGCGATCGCACTCATGGA	0.592													3	3					0	0	0.150653	0	0	A	1088447	G	A	1088447	3	1	64	1	0	0	0	0	1	0	0	0	14388	1087	38	1	2813	1	SLC12A7	5	1088447	Missense_Mutation	SNP	G	TCGA-DU-5872-01A-11D-1705-08		1088447	179826813	15	2722											
ZNF451	26036	broad.mit.edu	37	chr6	57012701	57012701	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agttctccgaggggtaaatgGcaatgccggatttgtgaaga	11	10	14	6	2	1	2	0	1	1	1	2	4	1	3	2	4	1	3	2	4	4	3			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr6:57012701G>A	uc003pdm.1	+	9	2042	c.1818G>A	c.(1816-1818)tgG>tgA	p.W606*	ZNF451_uc003pdl.3_Nonsense_Mutation_p.W606*|ZNF451_uc003pdn.1_Nonsense_Mutation_p.W606*|BC032020_uc003pdq.1_Intron|ZNF451_uc003pdk.1_Nonsense_Mutation_p.W606*	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GGGGTAAATGGCAATGCCGGA	0.418													40	59					0	0	0.827153	0	0	A	57012701	G	A	57012701	4	1	64	1	0	0	0	0	0	1	0	0	17919	1212	42	3	1856	3	ZNF451	6	57012701	Nonsense_Mutation	SNP	G	TCGA-DU-5872-01A-11D-1705-08		57012701	114102366	16	2723											
ZNRF2	223082	broad.mit.edu	37	chr7	30325442	30325442	+	Splice_Site	DEL	G	G	-																															tctcgccgcacatgtttggaGgtacggacccctctccgcgc																										TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr7:30325442delG	uc003tat.3	+	1	1520	c.469_splice	c.e1+1	p.G157_splice		NM_147128	NP_667339	Q8NHG8	ZNRF2_HUMAN	Homo sapiens zinc and ring finger 2 (ZNRF2), mRNA.	157						cell junction|endosome membrane|lysosomal membrane|presynaptic membrane	ligase activity|zinc ion binding			breast(1)|endometrium(1)|lung(2)|prostate(1)	5						CATGTTTGGAGGTACGGACCC	0.726													2	4	---	---	---	---						-	30325442	G	-	30325442	8	5	64	1	0	1	0	1	0	0	1	0	18209	1014	35	0	471	0	ZNRF2	7	30325442	Splice_Site	DEL	G	TCGA-DU-5872-01A-11D-1705-08		30325442	128813221	17	2724											
COL1A2	1278	broad.mit.edu	37	chr7	94057712	94057712	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcccaacctgaaaacatcCcagccaagaactggtatagg	14	5	10	12	0	0	2	0	1	0	1	1	2	1	2	4	3	4	1	4	3	7	2			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr7:94057712C>T	uc003ung.1	+	49	4105	c.3634C>T	c.(3634-3636)Cca>Tca	p.P1212S	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	1212	Fibrillar collagen NC1.				Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGAAAACATCCCAGCCAAGAA	0.488										HNSCC(75;0.22)			34	98					0	0	0.769981	0	0	T	94057712	C	T	94057712	3	4	64	1	0	0	0	0	1	0	0	0	3678	623	22	3	3832	3	COL1A2	7	94057712	Missense_Mutation	SNP	C	TCGA-DU-5872-01A-11D-1705-08	63732270	94057712	65080951	18	2725											
TRRAP	8295	broad.mit.edu	37	chr7	98545941	98545941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctagaggttgtcatgaaaaCggagcgggcgatgctgatcg	10	8	16	7	4	1	3	1	2	0	1	2	5	1	4	0	3	3	3	0	3	3	2			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr7:98545941C>T	uc003upp.3	+	32	4834	c.4625C>T	c.(4624-4626)aCg>aTg	p.T1542M	TRRAP_uc011kis.2_Missense_Mutation_p.T1524M|TRRAP_uc003upr.3_Missense_Mutation_p.T1241M	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1542					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTCATGAAAACGGAGCGGGCG	0.498													32	77					0	0	0.750413	0	0	T	98545941	C	T	98545941	3	4	64	1	0	0	0	0	1	0	0	0	16598	536	19	1	4693	1	TRRAP	7	98545941	Missense_Mutation	SNP	C	TCGA-DU-5872-01A-11D-1705-08	4488229	98545941	60592722	19	2726											
CRYGN	155051	broad.mit.edu	37	chr7	151135095	151135095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcaccattcctacaggcCgacaggagcccatgtggtca	10	7	9	15	1	2	0	2	0	0	0	3	2	3	1	4	3	2	0	4	3	1	2	rs148445096		TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr7:151135095C>T	uc003wke.3	-	1	353	c.257G>A	c.(256-258)cGg>cAg	p.R86Q	CRYGN_uc003wkf.3_Missense_Mutation_p.R86Q|CRYGN_uc003wkg.3_Non-coding_Transcript|CRYGN_uc010lqd.1_5'Flank	NM_144727	NP_653328	Q8WXF5	CRGN_HUMAN	Homo sapiens crystallin, gamma N (CRYGN), mRNA.	86	Beta/gamma crystallin 'Greek key' 2.									central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCTACAGGCCGACAGGAGCC	0.627													25	28					0	0	0.681144	0	0	T	151135095	C	T	151135095	3	4	64	1	0	0	0	0	1	0	0	0	3918	652	23	2	303	2	CRYGN	7	151135095	Missense_Mutation	SNP	C	TCGA-DU-5872-01A-11D-1705-08	52589154	151135095	8003568	20	2727											
RORB	6096	broad.mit.edu	37	chr9	77257427	77257427	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggaacagcggcagcagcaGagtggggaggcagaagccct	12	2	17	10	1	0	2	0	0	0	2	0	4	0	4	1	5	5	4	1	5	2	0			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr9:77257427G>C	uc004aji.3	+	3	415	c.366G>C	c.(364-366)caG>caC	p.Q122H	RORB_uc004ajh.3_Missense_Mutation_p.Q111H	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	122	Hinge (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						ggcagcagcagAGTGGGGAGG	0.592													11	36					0	0	0.411799	0	0	C	77257427	G	C	77257427	3	2	64	1	0	0	0	0	1	0	0	0	13529	933	33	5	347	5	RORB	9	77257427	Missense_Mutation	SNP	G	TCGA-DU-5872-01A-11D-1705-08		77257427	63956004	21	2728											
SETX	23064	broad.mit.edu	37	chr9	135205145	135205145	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attataagatgcaggagagaTtttacatgcagaagtcagat	16	11	10	4	0	1	4	1	0	0	4	1	6	1	5	0	1	3	2	0	1	4	4			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr9:135205145T>C	uc004cbk.3	-	9	2023	c.1840A>G	c.(1840-1842)Atc>Gtc	p.I614V	SETX_uc004cbj.3_Missense_Mutation_p.I233V|SETX_uc010mzt.3_Missense_Mutation_p.I233V	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	614					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GCAGGAGAGATTTTACATGCA	0.353													28	34					0	0	0.717897	0	0	C	135205145	T	C	135205145	3	2	64	1	0	0	0	0	1	0	0	0	14141	1493	52	3	6261	3	SETX	9	135205145	Missense_Mutation	SNP	T	TCGA-DU-5872-01A-11D-1705-08	57947718	135205145	6008286	22	2729											
PRICKLE1	144165	broad.mit.edu	37	chr12	42858963	42858963	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtttgggaaggaagggAcatcccaacaaagaggcttt	12	8	12	9	0	0	1	0	0	0	1	1	4	1	4	2	4	1	2	2	4	4	2			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr12:42858963A>G	uc010skv.2	-	6	1160	c.873T>C	c.(871-873)tgT>tgC	p.C291C	PRICKLE1_uc001rnl.3_Silent_p.C291C|PRICKLE1_uc010skw.2_Silent_p.C291C|PRICKLE1_uc001rnm.3_Silent_p.C291C	NM_001144881	NP_694571	Q96MT3	PRIC1_HUMAN	Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 2, mRNA.	291	LIM zinc-binding 3.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	p.C291C(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GAAGGAAGGGACATCCCAACA	0.522													19	26					0	0	0.539581	0	0	G	42858963	A	G	42858963	2	3	64	1	0	0	0	0	0	0	0	1	12486	273	10	3		3	PRICKLE1	12	42858963	Silent	SNP	A	TCGA-DU-5872-01A-11D-1705-08		42858963	90992932	23	2730											
MMP17	4326	broad.mit.edu	37	chr12	132329882	132329882	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcgggaccggcacctggtGtccctgcagccggcacagat	7	5	14	15	4	0	1	0	0	0	1	1	2	1	2	4	4	2	3	4	4	0	0			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr12:132329882G>T	uc001ujc.1	+	7	1191	c.1092G>T	c.(1090-1092)gtG>gtT	p.V364V	MMP17_uc001ujd.1_Silent_p.V280V	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	Homo sapiens matrix metallopeptidase 17 (membrane-inserted) (MMP17), mRNA.	364	Hemopexin-like 1.				proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		GGCACCTGGTGTCCCTGCAGC	0.697													3	20					0.115264	0.121331	0.115264	1	0	T	132329882	G	T	132329882	2	4	64	1	0	0	0	0	0	0	0	1	9656	1364	48	5		5	MMP17	12	132329882	Silent	SNP	G	TCGA-DU-5872-01A-11D-1705-08	89470919	132329882	1522013	24	2731											
TP53	7157	broad.mit.edu	37	chr17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctatctgagcagcgctcaTggtgggggcagcgcctcaca	7	7	14	13	3	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	1	1			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr17:7578394T>C	uc002gim.2	-	4	730	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_uc002gig.1_Missense_Mutation_p.H179R|TP53_uc002gih.3_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.2_Missense_Mutation_p.H140R	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(214)|p.H179Y(90)|p.H179L(78)|p.H179Q(19)|p.P177_C182delPHHERC(16)|p.H178fs*69(15)|p.H179N(14)|p.H179D(11)|p.H178Y(8)|p.0?(8)|p.C176_R181delCPHHER(6)|p.H179P(6)|p.H178fs*3(6)|p.H178P(6)|p.R175_E180delRCPHHE(6)|p.H178Q(5)|p.H178D(5)|p.H178_S183delHHERCS(4)|p.H47L(4)|p.H86L(4)|p.H179fs*68(3)|p.R174fs*24(3)|p.H178N(3)|p.P177_H179delPHH(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.H86R(2)|p.H178fs*6(2)|p.P177_E180delPHHE(2)|p.H47R(2)|p.R174fs*1(2)|p.H178H(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.H179fs*?(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.H179del(1)|p.H178L(1)|p.R175_H178>X(1)|p.P177_C182del(1)|p.R81fs*24(1)|p.H178del(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(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)		GCAGCGCTCATGGTGGGGGCA	0.642		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)			40	10					0	0	0.864702	0	0	C	7578394	T	C	7578394	3	2	64	1	0	0	0	0	1	0	0	0	16378	1464	51	3	762	3	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-DU-5872-01A-11D-1705-08		7578394	73616816	25	2732											
MYH1	4619	broad.mit.edu	37	chr17	10419569	10419569	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttgtacagcacagcaggctCgtgtagatgagtcatcatgg	10	10	13	8	1	2	2	2	1	0	1	3	2	2	2	0	2	3	6	0	2	2	3			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr17:10419569C>T	uc002gmo.3	-	3	389	c.295G>A	c.(295-297)Gag>Aag	p.E99K	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	99	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ACAGCAGGCTCGTGTAGATGA	0.473													6	136					0	0	0.248553	0	0	T	10419569	C	T	10419569	3	4	64	1	0	0	0	0	1	0	0	0	10029	893	31	2	5672	2	MYH1	17	10419569	Missense_Mutation	SNP	C	TCGA-DU-5872-01A-11D-1705-08	2841175	10419569	70775641	26	2733											
PSMD12	5718	broad.mit.edu	37	chr17	65341917	65341917	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttattcggtgaaccaaatcTgactgttcattgtcaaaagg	12	13	8	8	1	3	2	2	2	1	0	4	2	3	2	1	2	1	1	1	2	5	4			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr17:65341917T>A	uc002jfy.3	-	7	938	c.852A>T	c.(850-852)tcA>tcT	p.S284S	PSMD12_uc002jga.3_Silent_p.S264S|PSMD12_uc002jfz.3_Silent_p.S225S|PSMD12_uc010det.1_Silent_p.S284S	NM_002816	NP_002807	O00232	PSD12_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 (PSMD12), transcript variant 1, mRNA.	284	PCI.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					GAACCAAATCTGACTGTTCAT	0.358													21	30					0	0	0.667858	0	0	A	65341917	T	A	65341917	2	1	64	1	0	0	0	0	0	0	0	1	12695	1567	55	5		5	PSMD12	17	65341917	Silent	SNP	T	TCGA-DU-5872-01A-11D-1705-08	54922348	65341917	15853293	27	2734											
LAMA3	3909	broad.mit.edu	37	chr18	21425086	21425086	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaaaacagcttttacctTgagtgagtatcactttgtgg	12	13	10	6	0	1	2	1	2	0	0	1	3	1	3	1	2	3	2	1	2	5	5			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr18:21425086T>G	uc002kuq.3	+	29	3803	c.3717T>G	c.(3715-3717)ctT>ctG	p.L1239L	LAMA3_uc002kur.3_Silent_p.L1239L	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1239	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTTTTACCTTGAGTGAGTAT	0.493													16	17					0	0	0.479597	0	0	G	21425086	T	G	21425086	2	3	64	1	0	0	0	0	0	0	0	1	8607	1799	63	5		5	LAMA3	18	21425086	Silent	SNP	T	TCGA-DU-5872-01A-11D-1705-08		21425086	56652162	28	2735											
AKAP4	8852	broad.mit.edu	37	chrX	49957597	49957597	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgctttggcactttggccAcctccacacttttcatattg	7	15	7	12	0	1	0	1	0	0	0	2	0	2	0	3	2	1	2	3	2	1	6			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chrX:49957597A>G	uc004dow.1	-	4	1891	c.1767T>C	c.(1765-1767)ggT>ggC	p.G589G	AKAP4_uc004dou.1_Silent_p.G580G|AKAP4_uc004dov.1_Silent_p.G206G|AKAP4_uc010njp.1_Silent_p.G411G	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	589					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CACTTTGGCCACCTCCACACT	0.488													28	64					0	0	0.769981	0	0	G	49957597	A	G	49957597	2	3	64	1	0	0	0	0	0	0	0	1	453	146	6	3		3	AKAP4	23	49957597	Silent	SNP	A	TCGA-DU-5872-01A-11D-1705-08		49957597	105312963	29	2736											
ATRX	546	broad.mit.edu	37	chrX	76813106	76813106	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgatcataaatcttatctTccatggttccctttgtaaaa	11	15	5	10	1	3	0	1	0	2	0	5	1	5	0	3	1	0	2	3	1	5	6			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chrX:76813106T>G	uc004ecp.4	-	29	6747	c.6515A>C	c.(6514-6516)gAa>gCa	p.E2172A	ATRX_uc004ecq.4_Missense_Mutation_p.E2134A|ATRX_uc004eco.4_Missense_Mutation_p.E1957A	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2172	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AATCTTATCTTCCATGGTTCC	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						34	64					0	0	0.769981	0	0	G	76813106	T	G	76813106	3	3	64	1	0	0	0	0	1	0	0	0	1208	1783	62	5	987	5	ATRX	23	76813106	Missense_Mutation	SNP	T	TCGA-DU-5872-01A-11D-1705-08	26855509	76813106	78457454	30	2737											
CCDC160	347475	broad.mit.edu	37	chrX	133379653	133379653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattagaaatggcaaagatcCgcggagagctcagtgtcatc	14	8	11	8	2	2	3	2	0	0	3	4	4	3	3	1	2	1	2	1	2	4	1			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chrX:133379653C>T	uc011mvj.2	+	1	1144	c.823C>T	c.(823-825)Cgc>Tgc	p.R275C		NM_001101357	NP_001094827	A6NGH7	CC160_HUMAN	Homo sapiens coiled-coil domain containing 160 (CCDC160), mRNA.	275										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						GGCAAAGATCCGCGGAGAGCT	0.383													9	12					0	0	0.307466	0	0	T	133379653	C	T	133379653	3	4	64	1	0	0	0	0	1	0	0	0	2792	652	23	2	825	2	CCDC160	23	133379653	Missense_Mutation	SNP	C	TCGA-DU-5872-01A-11D-1705-08	56566547	133379653	21890907	31	2738											
PLXNA3	55558	broad.mit.edu	37	chrX	153688767	153688767	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgctgctacccgccccccAgcatgcgcgtgtgtgcccac	4	7	10	20	4	0	0	0	0	0	0	1	0	0	0	5	0	5	3	5	0	1	1	rs142949704		TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chrX:153688767A>G	uc004flm.3	+	1	417	c.244A>G	c.(244-246)Agc>Ggc	p.S82G		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	82	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCGCCCCCCAGCATGCGCGT	0.672													9	15					0	0	0.335167	0	0	G	153688767	A	G	153688767	3	3	64	1	0	0	0	0	1	0	0	0	12121	188	7	4	246	4	PLXNA3	23	153688767	Missense_Mutation	SNP	A	TCGA-DU-5872-01A-11D-1705-08	20309114	153688767	1581793	32	2739											
ZMYM6	9204	broad.mit.edu	37	chr1	35496240	35496240	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accatccaaaggttctttcaTtctaattttttacctcaaag	12	16	3	10	0	4	0	2	0	2	0	5	0	5	0	3	1	1	1	3	1	4	7			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr1:35496240T>C	uc001byh.3	-	1	229	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	ZMYM6_uc001byf.1_Missense_Mutation_p.M1V|ZMYM6_uc010oht.2_Intron|ZMYM6_uc009vup.3_Intron|ZMYM6_uc009vuq.1_Missense_Mutation_p.M1V|ZMYM6_uc009vur.1_5'UTR|ZMYM6_uc001byi.2_Missense_Mutation_p.M1V|ZMYM6_uc001byj.2_Missense_Mutation_p.M1V|ZMYM6_uc001byk.2_Missense_Mutation_p.M1V	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	Homo sapiens zinc finger, MYM-type 6 (ZMYM6), mRNA.	1					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GGTTCTTTCATTCTAATTTTT	0.388													39	6					0	0	1	0	0	C	35496240	T	C	35496240	3	2	65	1	0	0	0	0	1	0	0	0	17701	1493	52	3	4036	3	ZMYM6	1	35496240	Missense_Mutation	SNP	T	TCGA-DU-5874-01A-11D-1705-08		35496240	213754381	1	2740											
SH2D2A	9047	broad.mit.edu	37	chr1	156785835	156785835	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcagctcctgcgggtcAtgtctgtgatctggaaggtg	5	12	15	9	1	4	1	1	1	3	0	5	2	5	2	1	4	2	2	1	4	1	0			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr1:156785835A>G	uc009wsh.2	-	1	226	c.86T>C	c.(85-87)aTg>aCg	p.M29T	SH2D2A_uc001fqc.1_Missense_Mutation_p.M1T|SH2D2A_uc001fqd.2_Missense_Mutation_p.M29T|SH2D2A_uc001fqe.2_Missense_Mutation_p.M11T|SH2D2A_uc010phs.1_Missense_Mutation_p.M29T|NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_001161441	NP_001154913	Q9NP31	SH22A_HUMAN	Homo sapiens SH2 domain containing 2A (SH2D2A), transcript variant 1, mRNA.	29					angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTGCGGGTCATGTCTGTGAT	0.612													13	8					0	0	1	0	0	G	156785835	A	G	156785835	3	3	65	1	0	0	0	0	1	0	0	0	14232	217	8	3	1141	3	SH2D2A	1	156785835	Missense_Mutation	SNP	A	TCGA-DU-5874-01A-11D-1705-08	121289595	156785835	92464786	2	2741											
C1orf106	55765	broad.mit.edu	37	chr1	200880752	200880752	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagtggctctgacgtctcCagcatctcccaccccacttc	7	9	7	18	1	3	1	0	1	3	0	6	2	3	1	4	1	1	2	4	1	0	1			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr1:200880752C>T	uc001gvo.3	+	8	1428	c.1386C>T	c.(1384-1386)tcC>tcT	p.S462S	C1orf106_uc010ppm.2_Silent_p.S377S	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	462										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CTGACGTCTCCAGCATCTCCC	0.667													49	72					0	0	1	0	0	T	200880752	C	T	200880752	2	4	65	1	0	0	0	0	0	0	0	1	1980	581	21	3		3	C1orf106	1	200880752	Silent	SNP	C	TCGA-DU-5874-01A-11D-1705-08	44094917	200880752	48369869	3	2742											
SIPA1L2	57568	broad.mit.edu	37	chr1	232626742	232626742	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttgagaggtagtcctcGtgcggtaccatgcctagcag	7	12	12	10	2	1	1	0	1	1	1	3	2	2	1	3	2	4	3	3	2	3	5			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr1:232626742G>A	uc001hvg.3	-	2	1842	c.1684C>T	c.(1684-1686)Cga>Tga	p.R562*		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	562					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGTAGTCCTCGTGCGGTACCA	0.458													10	39					0	0	1	0	0	A	232626742	G	A	232626742	4	1	65	1	0	0	0	0	0	1	0	0	14330	1153	40	1	3560	1	SIPA1L2	1	232626742	Nonsense_Mutation	SNP	G	TCGA-DU-5874-01A-11D-1705-08	31745990	232626742	16623879	4	2743											
OR1C1	26188	broad.mit.edu	37	chr1	247921335	247921335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtaaggggtggcaaatcGccacatatctatcatacgcc	13	9	9	10	2	2	0	1	0	1	0	3	0	2	0	2	3	1	2	2	3	6	4			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr1:247921335G>A	uc010pza.2	-	0	374	c.374C>T	c.(373-375)gCg>gTg	p.A125V		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A125V(2)|p.A125A(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GTGGCAAATCGCCACATATCT	0.502													25	19					0	0	1	0	0	A	247921335	G	A	247921335	3	1	65	1	0	0	0	0	1	0	0	0	10952	1087	38	1	572	1	OR1C1	1	247921335	Missense_Mutation	SNP	G	TCGA-DU-5874-01A-11D-1705-08	15294593	247921335	1329286	5	2744											
CYP26B1	56603	broad.mit.edu	37	chr2	72360210	72360210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaaatgggcgtgaacaggCgcatgacctccttgatgacg	10	7	14	10	4	0	4	0	4	0	0	1	5	1	5	2	3	1	1	2	3	2	1			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr2:72360210C>T	uc002sih.1	-	4	1088	c.1088G>A	c.(1087-1089)cGc>cAc	p.R363H	CYP26B1_uc010yra.1_Missense_Mutation_p.R346H|CYP26B1_uc010yrb.1_Missense_Mutation_p.R288H	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily B, polypeptide 1 (CYP26B1), mRNA.	363					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CGTGAACAGGCGCATGACCTC	0.677													15	20					0	0	1	0	0	T	72360210	C	T	72360210	3	4	65	1	0	0	0	0	1	0	0	0	4156	768	27	1	458	1	CYP26B1	2	72360210	Missense_Mutation	SNP	C	TCGA-DU-5874-01A-11D-1705-08		72360210	170839163	6	2745											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								21	38					0	0	1	0	0	T	209113112	C	T	209113112	3	4	65	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-5874-01A-11D-1705-08	136752902	209113112	34086261	7	2746											
SLC6A6	6533	broad.mit.edu	37	chr3	14508027	14508027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctctcgcccttgcaggtcGtctacttcacagccactttt	5	13	6	17	2	3	0	1	0	2	0	5	0	3	0	3	1	3	1	3	1	1	5			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr3:14508027G>A	uc010heg.3	+	6	1035	c.736G>A	c.(736-738)Gtc>Atc	p.V246I	SLC6A6_uc003byq.3_Missense_Mutation_p.V246I|SLC6A6_uc003byr.3_Non-coding_Transcript	NM_001134367	NP_003034	P31641	SC6A6_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, taurine), member 6 (SLC6A6), transcript variant 2, mRNA.	246					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CTTGCAGGTCGTCTACTTCAC	0.602													27	41					0	0	1	0	0	A	14508027	G	A	14508027	3	1	65	1	0	0	0	0	1	0	0	0	14688	1145	40	1	758	1	SLC6A6	3	14508027	Missense_Mutation	SNP	G	TCGA-DU-5874-01A-11D-1705-08		14508027	183514403	8	2747											
ZNF197	10168	broad.mit.edu	37	chr3	44683423	44683423	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaccgagaatgaggaggtGacatcaaagccaagtagttc	15	7	12	7	1	1	4	1	3	0	1	2	6	1	5	2	2	1	2	2	2	4	2			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr3:44683423G>A	uc003cnm.3	+	5	1007	c.801G>A	c.(799-801)gtG>gtA	p.V267V	ZNF197_uc003cnn.3_Intron|ZNF197_uc003cno.3_Intron|ZNF197_uc003cnp.3_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	Homo sapiens zinc finger protein 197 (ZNF197), transcript variant 1, mRNA.	267	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		ATGAGGAGGTGACATCAAAGC	0.413													4	13					0	0	1	0	0	A	44683423	G	A	44683423	2	1	65	1	0	0	0	0	0	0	0	1	17756	1277	45	3		3	ZNF197	3	44683423	Silent	SNP	G	TCGA-DU-5874-01A-11D-1705-08	30175396	44683423	153339007	9	2748											
KIAA1257	57501	broad.mit.edu	37	chr3	128706646	128706646	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccacgacacccaggctttGtcaccttcgtgccacggctt	6	10	8	17	3	1	0	1	0	0	0	3	1	2	0	4	2	1	2	4	2	0	3			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr3:128706646G>T	uc003elj.4	-	3	676	c.480C>A	c.(478-480)gaC>gaA	p.D160E	KIAA1257_uc003elg.1_Missense_Mutation_p.D160E|KIAA1257_uc003eli.4_Missense_Mutation_p.D48E	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	Homo sapiens KIAA1257 (KIAA1257), mRNA.	160										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CCCAGGCTTTGTCACCTTCGT	0.453													9	10					3.09899e-07	3.1439e-07	1	1	0	T	128706646	G	T	128706646	3	4	65	1	0	0	0	0	1	0	0	0	8218	1368	48	5	769	5	KIAA1257	3	128706646	Missense_Mutation	SNP	G	TCGA-DU-5874-01A-11D-1705-08	84023223	128706646	69315784	10	2749											
ATP10D	57205	broad.mit.edu	37	chr4	47556756	47556756	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttcaggaaacagacgtggTaccagacaccaggcttttag	12	9	10	10	1	2	2	1	0	1	2	2	3	2	3	2	3	2	2	2	3	3	4			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr4:47556756T>C	uc003gxk.1	+	10	1813	c.1649T>C	c.(1648-1650)gTa>gCa	p.V550A	ATP10D_uc003gxl.1_5'UTR	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	550					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ACAGACGTGGTACCAGACACC	0.363													25	33					0	0	1	0	0	C	47556756	T	C	47556756	3	2	65	1	0	0	0	0	1	0	0	0	1118	1638	57	3	1687	3	ATP10D	4	47556756	Missense_Mutation	SNP	T	TCGA-DU-5874-01A-11D-1705-08		47556756	143597520	11	2750											
SLC6A19	340024	broad.mit.edu	37	chr5	1216915	1216915	+	Frame_Shift_Del	DEL	C	C	-																															gacccgcaggaacatcctgaCcctcatcaacgggttcgacc																										TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr5:1216915delC	uc003jbw.4	+	7	1084	c.1028delC	c.(1027-1029)accfs	p.T343fs		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	343					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.T343I(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AACATCCTGACCCTCATCAAC	0.657													48	67	---	---	---	---						-	1216915	C	-	1216915	7	5	65	1	0	1	0	1	0	0	0	0	14682	507	18	0	1058	0	SLC6A19	5	1216915	Frame_Shift_Del	DEL	C	TCGA-DU-5874-01A-11D-1705-08		1216915	179698345	12	2751											
CHD1	1105	broad.mit.edu	37	chr5	98207864	98207864	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcttctttgccccagtctAtatcaaaatgagctgccttt	9	15	5	12	0	4	1	1	1	3	0	4	1	4	1	3	0	3	1	3	0	4	5	rs150956514	by1000genomes	TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr5:98207864A>G	uc003knf.3	-	26	3900	c.3752T>C	c.(3751-3753)aTa>aCa	p.I1251T	CHD1_uc010jbn.3_5'UTR	NM_001270	NP_001261	O14646	CHD1_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA.	1251					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GCCCCAGTCTATATCAAAATG	0.348													5	71					0	0	1	0	0	G	98207864	A	G	98207864	3	3	65	1	0	0	0	0	1	0	0	0	3323	449	16	3	1416	3	CHD1	5	98207864	Missense_Mutation	SNP	A	TCGA-DU-5874-01A-11D-1705-08	96990949	98207864	82707396	13	2752											
PHF15	23338	broad.mit.edu	37	chr5	133914911	133914911	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctctgatggggagatgagCgactcagatgtagaggccga	10	9	15	7	2	2	5	1	2	1	3	3	8	2	5	1	3	1	1	1	3	1	2			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr5:133914911C>T	uc003kzk.2	+	11	2495	c.2457C>T	c.(2455-2457)agC>agT	p.S819S	PHF15_uc011cxt.1_Silent_p.S803S|PHF15_uc003kzm.2_Silent_p.S760S|PHF15_uc003kzn.2_3'UTR|PHF15_uc003kzo.1_Silent_p.S759S	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	Homo sapiens PHD finger protein 15 (PHF15), mRNA.	759					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGAGATGAGCGACTCAGATG	0.617													24	27					0	0	1	0	0	T	133914911	C	T	133914911	2	4	65	1	0	0	0	0	0	0	0	1	11826	767	27	1		1	PHF15	5	133914911	Silent	SNP	C	TCGA-DU-5874-01A-11D-1705-08	35707047	133914911	47000349	14	2753											
PITX1	5307	broad.mit.edu	37	chr5	134364859	134364859	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggcgccaggctcttggcGgcccagttgttgtaggagta	5	10	16	10	2	1	0	0	0	1	0	1	1	1	1	2	5	0	6	2	5	2	5			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr5:134364859G>A	uc010jea.3	-	2	948	c.555C>T	c.(553-555)gcC>gcT	p.A185A		NM_002653	NP_002644	P78337	PITX1_HUMAN	Homo sapiens paired-like homeodomain 1 (PITX1), mRNA.	185	Interacts with PIT-1 (By similarity).					nucleolus	sequence-specific DNA binding			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		GGCTCTTGGCGGCCCAGTTGT	0.632													16	41					0	0	1	0	0	A	134364859	G	A	134364859	2	1	65	1	0	0	0	0	0	0	0	1	11954	1103	39	2		2	PITX1	5	134364859	Silent	SNP	G	TCGA-DU-5874-01A-11D-1705-08	449948	134364859	46550401	15	2754											
CUL7	9820	broad.mit.edu	37	chr6	43010826	43010826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccacctgcttctccaccaCggcccgccaacagcgcgtca	7	5	8	21	4	2	0	1	0	1	0	3	0	2	0	6	1	3	1	6	1	1	1			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr6:43010826C>T	uc003otq.3	-	17	3780	c.3448G>A	c.(3448-3450)Gtg>Atg	p.V1150M	CUL7_uc010jyg.3_Missense_Mutation_p.V429M|CUL7_uc011dvb.2_Missense_Mutation_p.V1234M|KLC4_uc003otr.1_Non-coding_Transcript	NM_014780	NP_055595	Q14999	CUL7_HUMAN	Homo sapiens cullin 7 (CUL7), transcript variant 2, mRNA.	1150					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TTCTCCACCACGGCCCGCCAA	0.602													11	18					0	0	1	0	0	T	43010826	C	T	43010826	3	4	65	1	0	0	0	0	1	0	0	0	4060	536	19	1	1684	1	CUL7	6	43010826	Missense_Mutation	SNP	C	TCGA-DU-5874-01A-11D-1705-08		43010826	128104241	16	2755											
SYNE1	23345	broad.mit.edu	37	chr6	152469200	152469200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgataagccaacagctcccCggaggtagaaatctttgtca	12	9	9	11	1	2	2	1	1	1	1	3	3	3	3	3	2	3	2	3	2	4	3	rs148008634	byFrequency	TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr6:152469200C>T	uc021zhb.1	-	134	25179	c.24956G>A	c.(24955-24957)cGg>cAg	p.R8319Q	SYNE1_uc003qos.4_Missense_Mutation_p.R2843Q|SYNE1_uc003qot.4_Missense_Mutation_p.R8248Q|SYNE1_uc003qou.4_Missense_Mutation_p.R8319Q|SYNE1_uc011eez.2_Missense_Mutation_p.R521Q|SYNE1_uc003qoq.4_Missense_Mutation_p.R521Q|SYNE1_uc003qor.4_Missense_Mutation_p.R1219Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	8319					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		AACAGCTCCCCGGAGGTAGAA	0.493										HNSCC(10;0.0054)			14	24					0	0	1	0	0	T	152469200	C	T	152469200	3	4	65	1	0	0	0	0	1	0	0	0	15442	652	23	2	1550	2	SYNE1	6	152469200	Missense_Mutation	SNP	C	TCGA-DU-5874-01A-11D-1705-08	109458374	152469200	18645867	17	2756											
WIPI2	26100	broad.mit.edu	37	chr7	5256279	5256279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgatcagggagacgcctcCaaaccctgcaggtgagctaa	12	6	11	12	2	1	2	1	1	0	1	2	4	2	2	3	2	4	2	3	2	3	2			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr7:5256279C>T	uc003snv.3	+	4	683	c.467C>T	c.(466-468)cCa>cTa	p.P156L	WIPI2_uc003snw.3_Missense_Mutation_p.P156L|WIPI2_uc003snx.3_Missense_Mutation_p.P138L|WIPI2_uc003sny.3_Missense_Mutation_p.P138L|WIPI2_uc010ksv.3_Missense_Mutation_p.P12L|WIPI2_uc003snz.3_Missense_Mutation_p.P97L|WIPI2_uc003soa.3_Missense_Mutation_p.P97L	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN	Homo sapiens WD repeat domain, phosphoinositide interacting 2 (WIPI2), transcript variant 1, mRNA.	156					autophagic vacuole assembly	PAS complex|cytosol|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		GAGACGCCTCCAAACCCTGCA	0.463													16	21					0	0	1	0	0	T	5256279	C	T	5256279	3	4	65	1	0	0	0	0	1	0	0	0	17368	594	21	3	519	3	WIPI2	7	5256279	Missense_Mutation	SNP	C	TCGA-DU-5874-01A-11D-1705-08		5256279	153882384	18	2757											
NPVF	64111	broad.mit.edu	37	chr7	25266332	25266332	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tggcacatggtgaatgcatgGatccttgacacaaatcactc	12	10	9	10	0	1	2	1	2	0	0	3	3	2	3	1	3	1	2	1	3	2	1			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr7:25266332G>C	uc003sxo.3	-	1	499	c.452C>G	c.(451-453)tCc>tGc	p.S151C		NM_022150	NP_071433	Q9HCQ7	RFRP_HUMAN	Homo sapiens neuropeptide VF precursor (NPVF), mRNA.	151					neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						TGAATGCATGGATCCTTGACA	0.468													62	92					0	0	1	0	0	C	25266332	G	C	25266332	3	2	65	1	0	0	0	0	1	0	0	0	10605	1174	41	5	146	5	NPVF	7	25266332	Missense_Mutation	SNP	G	TCGA-DU-5874-01A-11D-1705-08	20010053	25266332	133872331	19	2758											
HEPACAM2	253012	broad.mit.edu	37	chr7	92825189	92825189	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacaaattcatatattccGaagtcatccagagcatcttc	14	11	5	11	1	3	1	2	0	1	1	6	2	5	1	2	0	2	2	2	0	5	5			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr7:92825189G>T	uc011khy.2	-	8	1319	c.1296C>A	c.(1294-1296)ttC>ttA	p.F432L	HEPACAM2_uc003uml.3_Missense_Mutation_p.F397L|HEPACAM2_uc010lff.3_Nonsense_Mutation_p.S389*|HEPACAM2_uc003umm.3_Missense_Mutation_p.F409L	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	409						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						CATATATTCCGAAGTCATCCA	0.383													28	38					8.58068e-18	8.96489e-18	1	1	0	T	92825189	G	T	92825189	3	4	65	1	0	0	0	0	1	0	0	0	7053	1049	37	5	173	5	HEPACAM2	7	92825189	Missense_Mutation	SNP	G	TCGA-DU-5874-01A-11D-1705-08	67558857	92825189	66313474	20	2759											
OSR2	116039	broad.mit.edu	37	chr8	99962883	99962883	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaccttatattgattttcaGatacatccattccaaagaaa	17	13	3	8	0	1	3	1	1	0	2	3	3	3	3	3	0	2	0	3	0	6	7			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr8:99962883G>A	uc011lgx.2	+	4	1441	c.1020_splice	c.e4-1	p.R340_splice	OSR2_uc010mbn.2_Splice_Site_p.R219_splice|OSR2_uc003yir.3_Splice_Site_p.R219_splice|OSR2_uc003yiq.3_Splice_Site_p.R219_splice	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	Homo sapiens odd-skipped related 2 (Drosophila) (OSR2), transcript variant 1, mRNA.	219					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding	p.?(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			TTGATTTTCAGATACATCCAT	0.358													6	8					0	0	1	0	0	A	99962883	G	A	99962883	5	1	65	1	0	0	0	0	0	0	1	0	11294	956	33	3	662	3	OSR2	8	99962883	Splice_Site	SNP	G	TCGA-DU-5874-01A-11D-1705-08		99962883	46401139	21	2760											
KIAA0020	9933	broad.mit.edu	37	chr9	2829886	2829886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgatgcttccgcatgcCgcagcatcttcctcacgtgg	5	11	11	14	3	2	1	1	1	1	0	4	1	4	1	3	2	3	5	3	2	0	2			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr9:2829886C>T	uc003zhp.1	-	7	836	c.740G>A	c.(739-741)cGg>cAg	p.R247Q	KIAA0020_uc003zhq.1_Missense_Mutation_p.R246Q	NM_014878	NP_055693	Q15397	K0020_HUMAN	Homo sapiens KIAA0020 (KIAA0020), mRNA.	247	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TTCCGCATGCCGCAGCATCTT	0.433													56	124					0	0	1	0	0	T	2829886	C	T	2829886	3	4	65	1	0	0	0	0	1	0	0	0	8152	652	23	2	1250	2	KIAA0020	9	2829886	Missense_Mutation	SNP	C	TCGA-DU-5874-01A-11D-1705-08		2829886	138383545	22	2761											
GLIS3	169792	broad.mit.edu	37	chr9	4286155	4286155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcggcttcccattggtgaGcatttgtctcctggggctta	4	14	12	11	2	1	1	0	1	1	0	4	1	2	1	2	4	1	3	2	4	1	4			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr9:4286155G>A	uc003zhx.1	-	1	984	c.271C>T	c.(271-273)Ctc>Ttc	p.L91F	GLIS3_uc003zic.1_Missense_Mutation_p.L91F|GLIS3_uc003zie.1_Missense_Mutation_p.L91F|GLIS3_uc010mhh.1_Intron|GLIS3_uc003zid.1_5'UTR|GLIS3_uc010mhi.1_Intron|GLIS3_uc003zif.1_5'UTR|GLIS3_uc003zih.1_Intron|GLIS3_uc003zig.1_Intron|GLIS3_uc003zii.1_Missense_Mutation_p.L91F	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	325	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CCATTGGTGAGCATTTGTCTC	0.562													33	50					0	0	1	0	0	A	4286155	G	A	4286155	3	1	65	1	0	0	0	0	1	0	0	0	6447	971	34	3	2561	3	GLIS3	9	4286155	Missense_Mutation	SNP	G	TCGA-DU-5874-01A-11D-1705-08	1456269	4286155	136927276	23	2762											
PTGES2	80142	broad.mit.edu	37	chr9	130885212	130885212	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggatgtgcacacacacttgCctgctcttgagtcgcttgct	6	12	10	13	2	1	1	0	1	1	0	2	2	1	2	1	1	4	4	1	1	0	3			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr9:130885212C>T	uc004bti.3	-	5	1365	c.887_splice	c.e5+1	p.R296_splice	PTGES2_uc004btk.3_Splice_Site_p.R105_splice|PTGES2_uc004btl.3_Splice_Site_p.R105_splice	NM_025072	NP_079348	Q9H7Z7	PGES2_HUMAN	Homo sapiens prostaglandin E synthase 2 (PTGES2), transcript variant 1, mRNA.	296	GST C-terminal.				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(2)	4						CACACACTTGCCTGCTCTTGA	0.642													15	22					0	0	1	0	0	T	130885212	C	T	130885212	5	4	65	1	0	0	0	0	0	0	1	0	12747	753	26	3	257	3	PTGES2	9	130885212	Splice_Site	SNP	C	TCGA-DU-5874-01A-11D-1705-08	126599057	130885212	10328219	24	2763											
AIFM2	84883	broad.mit.edu	37	chr10	71880314	71880314	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccatctccactccagcCgagcctcctcccaccaccac	7	6	5	23	1	1	0	0	0	1	0	5	1	4	0	9	0	3	1	9	0	0	0			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr10:71880314C>T	uc010qjg.2	-	3	472	c.456G>A	c.(454-456)tcG>tcA	p.S152S	AIFM2_uc021psi.1_Silent_p.S152S|AIFM2_uc001jqp.2_Silent_p.S152S	NM_001198696	NP_001185625	Q9BRQ8	AIFM2_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 2 (AIFM2), transcript variant 1, mRNA.	152					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						CCACTCCAGCCGAGCCTCCTC	0.522													39	73					0	0	1	0	0	T	71880314	C	T	71880314	2	4	65	1	0	0	0	0	0	0	0	1	427	639	23	2		2	AIFM2	10	71880314	Silent	SNP	C	TCGA-DU-5874-01A-11D-1705-08		71880314	63654433	25	2764											
GPR123	84435	broad.mit.edu	37	chr10	134898495	134898495	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatcaatgtaaacaggaacgTatcctccgcctctgcatctc	11	11	6	13	2	3	0	1	0	2	0	6	1	5	1	3	1	3	3	3	1	6	3			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr10:134898495T>C	uc001llw.3	+	7	1557	c.1557T>C	c.(1555-1557)cgT>cgC	p.R519R	GPR123_uc001llx.4_5'Flank			Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		AACAGGAACGTATCCTCCGCC	0.532													46	68					0	0	1	0	0	C	134898495	T	C	134898495	2	2	65	1	0	0	0	0	0	0	0	1	6637	1653	57	3		3	GPR123	10	134898495	Silent	SNP	T	TCGA-DU-5874-01A-11D-1705-08	63018181	134898495	636252	26	2765											
TTC17	55761	broad.mit.edu	37	chr11	43465682	43465683	+	In_Frame_Ins	INS	-	-	ACA																															gggaaaaaagtagaaacaggINStcagatagaaaatggacatc																										TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr11:43465682_43465683insACA	uc001mxi.3	+	17	2658_2659	c.2588_2589insACA	c.(2587-2589)ggt>ggACAt	p.863_864insH	TTC17_uc001mxh.3_In_Frame_Ins_p.920_921insH|TTC17_uc010rfj.2_In_Frame_Ins_p.863_864insH|TTC17_uc001mxj.3_In_Frame_Ins_p.690_691insH	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.	863							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GTAGAAACAGGTCAGATAGAAA	0.421													7	55	---	---	---	---						ACA	43465683	-	ACA	43465682	7	5	65	1	0	1	1	0	0	0	0	0	16681	1261	44	0	2658	0	TTC17	11	43465682	In_Frame_Ins	INS	-	TCGA-DU-5874-01A-11D-1705-08		43465682	91540834	27	2766											
NTF3	4908	broad.mit.edu	37	chr12	5603654	5603654	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgattgcaatggacaccgaaCtgctgcgacaacagagacgc	13	6	11	11	3	0	2	0	1	0	1	0	6	0	3	1	1	5	2	1	1	3	1			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr12:5603654C>T	uc001qnl.4	+	0	357	c.274C>T	c.(274-276)Ctg>Ttg	p.L92L	NTF3_uc001qnk.4_Silent_p.L105L	NM_002527	NP_002518	P20783	NTF3_HUMAN	Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA.	92					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						GGACACCGAACTGCTGCGACA	0.632													29	31					0	0	1	0	0	T	5603654	C	T	5603654	2	4	65	1	0	0	0	0	0	0	0	1	10696	564	20	3		3	NTF3	12	5603654	Silent	SNP	C	TCGA-DU-5874-01A-11D-1705-08		5603654	128248241	28	2767											
PA2G4	5036	broad.mit.edu	37	chr12	56504240	56504240	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtatatgctgtggatgttctCgtcagctcaggagagggcaa	9	11	14	7	1	3	1	2	0	1	1	4	3	3	2	0	3	2	5	0	3	3	3			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr12:56504240C>T	uc001sjm.3	+	7	1106	c.687C>T	c.(685-687)ctC>ctT	p.L229L		NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	Homo sapiens proliferation-associated 2G4, 38kDa (PA2G4), mRNA.	229					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|rRNA processing|regulation of translation	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			TGGATGTTCTCGTCAGCTCAG	0.403													28	34					0	0	1	0	0	T	56504240	C	T	56504240	2	4	65	1	0	0	0	0	0	0	0	1	11361	871	31	2		2	PA2G4	12	56504240	Silent	SNP	C	TCGA-DU-5874-01A-11D-1705-08	50900586	56504240	77347655	29	2768											
FGF14	2259	broad.mit.edu	37	chr13	103053948	103053948	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caatccagcagcttagacacCctgagaaagaagagatcctt	15	7	8	11	0	0	4	0	1	0	4	2	6	2	4	3	0	2	2	3	0	4	2			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr13:103053948C>T	uc001vpf.2	-	0	177	c.81G>A	c.(79-81)agG>agA	p.R27R		NM_175929	NP_787125	Q92915	FGF14_HUMAN	Homo sapiens fibroblast growth factor 14 (FGF14), transcript variant 2, mRNA.	0					JNK cascade|cell death|cell-cell signaling|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTTAGACACCCTGAGAAAGA	0.413													22	53					0	0	1	0	0	T	103053948	C	T	103053948	2	4	65	1	0	0	0	0	0	0	0	1	5843	622	22	3		3	FGF14	13	103053948	Silent	SNP	C	TCGA-DU-5874-01A-11D-1705-08		103053948	12115930	30	2769											
OR11G2	390439	broad.mit.edu	37	chr14	20666311	20666311	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccttcagcagctgggagaAgaaaggctttctccacctgt	9	10	10	12	0	2	2	1	0	1	2	4	3	3	2	3	2	2	3	3	2	2	2			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr14:20666311A>T	uc010tlb.2	+	0	817	c.817A>T	c.(817-819)Aga>Tga	p.R273*		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R272K(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		AGCTGGGAGAAGAAAGGCTTT	0.517													10	149					0	0	1	0	0	T	20666311	A	T	20666311	4	4	65	1	0	0	0	0	0	1	0	0	10925	64	3	5	819	5	OR11G2	14	20666311	Nonsense_Mutation	SNP	A	TCGA-DU-5874-01A-11D-1705-08		20666311	86683229	31	2770											
MYH6	4624	broad.mit.edu	37	chr14	23855703	23855703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagcgagtccaccacccGctggtggttgcgcttggcct	4	9	13	15	3	0	0	0	0	0	0	1	1	1	0	4	3	3	4	4	3	0	2			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr14:23855703G>A	uc001wjv.3	-	32	4851	c.4780C>T	c.(4780-4782)Cgg>Tgg	p.R1594W		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1594					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.R1594R(2)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCCACCACCCGCTGGTGGTTG	0.592													50	107					0	0	1	0	0	A	23855703	G	A	23855703	3	1	65	1	0	0	0	0	1	0	0	0	10038	1086	38	1	1067	1	MYH6	14	23855703	Missense_Mutation	SNP	G	TCGA-DU-5874-01A-11D-1705-08	3189392	23855703	83493837	32	2771											
MYH7	4625	broad.mit.edu	37	chr14	23887505	23887505	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctccgagttggccttggaAaggacgcgctgcagctcggc	7	7	14	13	4	0	0	0	0	0	0	2	3	1	2	3	4	2	4	3	4	1	2			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr14:23887505A>C	uc001wjx.3	-	29	4189	c.4083T>G	c.(4081-4083)ctT>ctG	p.L1361L	MIR208B_uc021rqy.1_5'Flank	NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1361					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.L1361L(2)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGGCCTTGGAAAGGACGCGCT	0.652													4	71					0	0	1	0	0	C	23887505	A	C	23887505	2	2	65	1	0	0	0	0	0	0	0	1	10039	1	1	5		5	MYH7	14	23887505	Silent	SNP	A	TCGA-DU-5874-01A-11D-1705-08	31802	23887505	83462035	33	2772											
SEC23A	10484	broad.mit.edu	37	chr14	39502455	39502455	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttagcacttcaagcagcactGgacacagcaagtttcttcaa	13	10	7	11	0	3	0	2	0	1	0	3	1	3	1	0	1	4	5	0	1	4	4			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr14:39502455G>A	uc001wup.1	-	19	2509	c.2286C>T	c.(2284-2286)tcC>tcT	p.S762S	SEC23A_uc010tqa.1_Silent_p.S648S|SEC23A_uc010tqb.1_Silent_p.S733S	NM_006364	NP_006355	Q15436	SC23A_HUMAN	Homo sapiens Sec23 homolog A (S. cerevisiae) (SEC23A), mRNA.	762					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		AAGCAGCACTGGACACAGCAA	0.328													4	76					0	0	1	0	0	A	39502455	G	A	39502455	2	1	65	1	0	0	0	0	0	0	0	1	13991	1335	47	3		3	SEC23A	14	39502455	Silent	SNP	G	TCGA-DU-5874-01A-11D-1705-08	15614950	39502455	67847085	34	2773											
PTPN21	11099	broad.mit.edu	37	chr14	88938593	88938593	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcgttcctctcaccttaaTatgtgatgcgttgatgtaac	9	14	9	9	2	1	2	1	2	1	0	3	2	2	2	2	1	2	3	2	1	3	5			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr14:88938593T>C	uc001xwv.4	-	14	3197	c.2866A>G	c.(2866-2868)Att>Gtt	p.I956V	PTPN21_uc010twc.2_Missense_Mutation_p.I752V	NM_007039	NP_008970	Q16825	PTN21_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 21 (PTPN21), mRNA.	956	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTCACCTTAATATGTGATGCG	0.373													21	19					0	0	1	0	0	C	88938593	T	C	88938593	3	2	65	1	0	0	0	0	1	0	0	0	12786	1406	49	3	678	3	PTPN21	14	88938593	Missense_Mutation	SNP	T	TCGA-DU-5874-01A-11D-1705-08	49436138	88938593	18410947	35	2774											
MYO9A	4649	broad.mit.edu	37	chr15	72122614	72122614	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaactacaacaggagacgaTggacctggatagtttcctcg	12	8	11	10	3	0	1	0	0	0	1	2	6	1	3	2	3	3	1	2	3	4	3			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr15:72122614T>C	uc002atl.4	-	39	7349	c.6876A>G	c.(6874-6876)ccA>ccG	p.P2292P	MYO9A_uc002atk.3_Silent_p.P1087P	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	2292	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity	p.G2291V(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CAGGAGACGATGGACCTGGAT	0.468													42	32					0	0	1	0	0	C	72122614	T	C	72122614	2	2	65	1	0	0	0	0	0	0	0	1	10084	1451	51	3		3	MYO9A	15	72122614	Silent	SNP	T	TCGA-DU-5874-01A-11D-1705-08		72122614	30408778	36	2775											
LRRK1	79705	broad.mit.edu	37	chr15	101555560	101555560	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggactgaaaacgaagcgtaTtgcctttttcaccaccagag	12	10	9	10	2	1	2	1	1	0	1	1	4	1	3	3	1	3	1	3	1	4	4			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr15:101555560T>G	uc002bwr.3	+	11	1881	c.1562T>G	c.(1561-1563)aTt>aGt	p.I521S	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	521					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACGAAGCGTATTGCCTTTTTC	0.517											OREG0023522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	10					0	0	1	0	0	G	101555560	T	G	101555560	3	3	65	1	0	0	0	0	1	0	0	0	9032	1493	52	5	1604	5	LRRK1	15	101555560	Missense_Mutation	SNP	T	TCGA-DU-5874-01A-11D-1705-08	29432946	101555560	975832	37	2776											
PKD1	5310	broad.mit.edu	37	chr16	2161835	2161835	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctgctgcgtcaggttctcGaaggcattagatgccagcac	9	9	11	12	2	2	1	1	0	1	1	3	2	2	1	2	2	4	4	2	2	2	2			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr16:2161835G>A	uc002cos.1	-	14	3542	c.3333C>T	c.(3331-3333)ttC>ttT	p.F1111F	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.F1111F	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	1111	PKD 5.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCAGGTTCTCGAAGGCATTAG	0.706													4	14					0	0	1	0	0	A	2161835	G	A	2161835	2	1	65	1	0	0	0	0	0	0	0	1	11963	1049	37	2		2	PKD1	16	2161835	Silent	SNP	G	TCGA-DU-5874-01A-11D-1705-08		2161835	88192918	38	2777											
FOXF1	2294	broad.mit.edu	37	chr16	86546529	86546529	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgtcgcctcgccttgcAggcatcccgcggtatcactc	4	10	9	18	4	1	0	1	0	0	0	6	0	3	0	4	2	1	3	4	2	1	2			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr16:86546529A>G	uc002fjl.3	+	2	1023	c.980_splice	c.e2-2	p.G327_splice		NM_001451	NP_001442	Q12946	FOXF1_HUMAN	Homo sapiens forkhead box F1 (FOXF1), mRNA.	327					branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						CTCGCCTTGCAGGCATCCCGC	0.627													3	26					0	0	1	0	0	G	86546529	A	G	86546529	5	3	65	1	0	0	0	0	0	0	1	0	6005	202	7	4	984	4	FOXF1	16	86546529	Splice_Site	SNP	A	TCGA-DU-5874-01A-11D-1705-08	84384694	86546529	3808224	39	2778											
SCPEP1	59342	broad.mit.edu	37	chr17	55072877	55072877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgcattccagtctcttctcGaagacaaaggtctggcagag	10	11	10	10	1	3	2	0	0	3	2	6	3	4	2	1	2	1	2	1	2	2	3	rs138036655		TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr17:55072877G>A	uc002iuv.4	+	7	720	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K	SCPEP1_uc010dcl.3_Non-coding_Transcript|SCPEP1_uc010wnk.2_Missense_Mutation_p.E173K	NM_021626	NP_067639	Q9HB40	RISC_HUMAN	Homo sapiens serine carboxypeptidase 1 (SCPEP1), mRNA.	223					proteolysis	extracellular region	serine-type carboxypeptidase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					GTCTCTTCTCGAAGACAAAGG	0.502													5	55					0	0	1	0	0	A	55072877	G	A	55072877	3	1	65	1	0	0	0	0	1	0	0	0	13935	1059	37	2	697	2	SCPEP1	17	55072877	Missense_Mutation	SNP	G	TCGA-DU-5874-01A-11D-1705-08		55072877	26122333	40	2779											
USH1G	124590	broad.mit.edu	37	chr17	72916252	72916252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccttgaaggtgccttcgcCgccctgcttgcgccgctcca	4	9	11	17	4	0	1	0	1	0	0	2	2	1	1	6	1	3	2	6	1	1	3			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr17:72916252C>T	uc002jme.1	-	1	862	c.679G>A	c.(679-681)Ggc>Agc	p.G227S	USH1G_uc010wro.1_Missense_Mutation_p.G124S	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), mRNA.	227					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					GTGCCTTCGCCGCCCTGCTTG	0.692													22	30					0	0	1	0	0	T	72916252	C	T	72916252	3	4	65	1	0	0	0	0	1	0	0	0	17032	652	23	2	714	2	USH1G	17	72916252	Missense_Mutation	SNP	C	TCGA-DU-5874-01A-11D-1705-08	17843375	72916252	8278958	41	2780											
PPP4R1	9989	broad.mit.edu	37	chr18	9549244	9549244	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgcaagcagcactcgcacGttaggaaccctgtcatttgc	9	11	9	12	2	1	0	1	0	0	0	2	1	1	1	1	1	5	5	1	1	3	3			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr18:9549244G>A	uc002koe.1	-	18	2758	c.2640C>T	c.(2638-2640)aaC>aaT	p.N880N	PPP4R1_uc002kof.2_Silent_p.N297N|PPP4R1_uc010wzo.1_Silent_p.N726N|PPP4R1_uc002kod.1_Silent_p.N863N	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 1 (PPP4R1), transcript variant 1, mRNA.	880					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						GCACTCGCACGTTAGGAACCC	0.478													61	65					0	0	1	0	0	A	9549244	G	A	9549244	2	1	65	1	0	0	0	0	0	0	0	1	12403	1136	40	1		1	PPP4R1	18	9549244	Silent	SNP	G	TCGA-DU-5874-01A-11D-1705-08		9549244	68528004	42	2781											
KCNG2	26251	broad.mit.edu	37	chr18	77623899	77623899	+	Frame_Shift_Del	DEL	T	T	-																															tcgaccgcagcccgtgcgccTtccgcgccatcgtggcgctt																										TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr18:77623899delT	uc010xfl.2	+	0	232	c.232delT	c.(232-234)ttcfs	p.F78fs		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.	78					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCCGTGCGCCTTCCGCGCCAT	0.716													2	4	---	---	---	---						-	77623899	T	-	77623899	7	5	65	1	0	1	0	1	0	0	0	0	8028	1609	56	0	234	0	KCNG2	18	77623899	Frame_Shift_Del	DEL	T	TCGA-DU-5874-01A-11D-1705-08	68074655	77623899	453349	43	2782											
FSTL3	10272	broad.mit.edu	37	chr19	681421	681421	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtggtgtgtcgagcggcGccctgccctgtgccctccag	2	9	15	15	4	0	0	0	0	0	0	2	1	1	0	4	2	4	0	4	2	0	0			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr19:681421G>A	uc002lpk.1	+	3	629	c.594G>A	c.(592-594)gcG>gcA	p.A198A	FSTL3_uc010drt.1_Non-coding_Transcript	NM_005860	NP_005851	O95633	FSTL3_HUMAN	Homo sapiens follistatin-like 3 (secreted glycoprotein) (FSTL3), mRNA.	198	Kazal-like 2.				hemopoietic progenitor cell differentiation|negative regulation of BMP signaling pathway|negative regulation of activin receptor signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	extracellular space|nucleus	activin binding|fibronectin binding						all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GTCGAGCGGCGCCCTGCCCTG	0.692			T	CCND1	B-CLL								5	6					0	0	1	0	0	A	681421	G	A	681421	2	1	65	1	0	0	0	0	0	0	0	1	6078	1074	38	1		1	FSTL3	19	681421	Silent	SNP	G	TCGA-DU-5874-01A-11D-1705-08		681421	58447562	44	2783											
CD93	22918	broad.mit.edu	37	chr20	23065004	23065004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctccctcttcgctctcCgcttgcgatagaccagtagc	5	12	7	17	3	3	1	0	0	3	1	7	2	4	1	4	0	2	3	4	0	2	4			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr20:23065004C>T	uc002wsv.3	-	0	1974	c.1826G>A	c.(1825-1827)cGg>cAg	p.R609Q		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	609					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTTCGCTCTCCGCTTGCGATA	0.577													68	86					0	0	1	0	0	T	23065004	C	T	23065004	3	4	65	1	0	0	0	0	1	0	0	0	3047	652	23	2	140	2	CD93	20	23065004	Missense_Mutation	SNP	C	TCGA-DU-5874-01A-11D-1705-08		23065004	39960516	45	2784											
CHMP4B	128866	broad.mit.edu	37	chr20	32439895	32439895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttactaggatgagctcatgGcggaattagaagaactagaa	15	10	11	5	1	1	4	1	1	0	3	1	6	1	6	0	3	3	1	0	3	8	5			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr20:32439895G>A	uc002xaa.3	+	3	661	c.496G>A	c.(496-498)Gcg>Acg	p.A166T		NM_176812	NP_789782	Q9H444	CHM4B_HUMAN	Homo sapiens charged multivesicular body protein 4B (CHMP4B), mRNA.	166					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding	p.A166V(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						TGAGCTCATGGCGGAATTAGA	0.493													11	114					0	0	1	0	0	A	32439895	G	A	32439895	3	1	65	1	0	0	0	0	1	0	0	0	3357	1203	42	3	510	3	CHMP4B	20	32439895	Missense_Mutation	SNP	G	TCGA-DU-5874-01A-11D-1705-08	9374891	32439895	30585625	46	2785											
SON	6651	broad.mit.edu	37	chr21	34921914	34921914	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaagaagaaagaaaaggAaaaaaaatataaaagacagc	29	2	8	2	0	0	4	0	0	0	4	0	6	0	5	0	1	1	0	0	1	13	2			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr21:34921914A>G	uc002yse.1	+	2	426	c.377A>G	c.(376-378)gAa>gGa	p.E126G	SON_uc002ysb.1_Missense_Mutation_p.E126G|SON_uc002ysc.3_Missense_Mutation_p.E126G|SON_uc002ysd.3_5'UTR|SON_uc002ysf.1_Intron|SON_uc021win.1_5'Flank|SON_uc002ysg.3_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	126				E -> K (in Ref. 7; BAB14985).	RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	p.E126D(1)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						aaagaaaaggaaaaaaaaTAT	0.303											OREG0003562	type=REGULATORY REGION|Gene=AK091233|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	13	17					0	0	1	0	0	G	34921914	A	G	34921914	3	3	65	1	0	0	0	0	1	0	0	0	14926	246	9	3	387	3	SON	21	34921914	Missense_Mutation	SNP	A	TCGA-DU-5874-01A-11D-1705-08		34921914	13207981	47	2786											
LZTR1	8216	broad.mit.edu	37	chr22	21348256	21348256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtagccattgtcacagcgcGgagccgctggcttcgcagga	7	7	14	13	5	1	0	1	0	0	0	2	2	1	2	2	3	3	4	2	3	1	3			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr22:21348256G>A	uc002zto.3	+	12	1500	c.1397G>A	c.(1396-1398)cGg>cAg	p.R466Q	LZTR1_uc002ztn.3_Missense_Mutation_p.R425Q|LZTR1_uc011ahy.2_Missense_Mutation_p.R447Q|LZTR1_uc010gsr.1_Missense_Mutation_p.R337Q	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	466	BTB 1.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GTCACAGCGCGGAGCCGCTGG	0.647													12	15					0	0	1	0	0	A	21348256	G	A	21348256	3	1	65	1	0	0	0	0	1	0	0	0	9137	1116	39	2	1447	2	LZTR1	22	21348256	Missense_Mutation	SNP	G	TCGA-DU-5874-01A-11D-1705-08		21348256	29956310	48	2787											
FBLN1	2192	broad.mit.edu	37	chr22	45931164	45931164	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggatccttccgctgccgacCcaagctacagtgcaagagtg	9	7	12	13	2	0	1	0	0	0	1	2	3	2	2	4	1	4	3	4	1	3	2			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr22:45931164C>A	uc010gzz.3	+	8	1130	c.983C>A	c.(982-984)cCc>cAc	p.P328H	FBLN1_uc003bgg.1_Missense_Mutation_p.P290H|FBLN1_uc003bgh.3_Missense_Mutation_p.P290H|FBLN1_uc003bgi.1_Missense_Mutation_p.P290H|FBLN1_uc003bgj.1_Missense_Mutation_p.P290H	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	290	EGF-like 4; calcium-binding (Potential).				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CGCTGCCGACCCAAGCTACAG	0.483													22	38					3.62473e-10	3.73134e-10	1	1	0	A	45931164	C	A	45931164	3	1	65	1	0	0	0	0	1	0	0	0	5698	623	22	5	899	5	FBLN1	22	45931164	Missense_Mutation	SNP	C	TCGA-DU-5874-01A-11D-1705-08	24582908	45931164	5373402	49	2788											
HCCS	3052	broad.mit.edu	37	chrX	11133053	11133053	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctatgagtacgtggagtgtCccattaggggcactgcggct	7	10	14	10	2	0	1	0	1	0	0	1	2	1	2	2	4	2	3	2	4	3	3			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chrX:11133053C>A	uc004cul.2	+	2	379	c.199C>A	c.(199-201)Ccc>Acc	p.P67T	HCCS_uc004cuk.3_Missense_Mutation_p.P67T|HCCS_uc004cuj.3_Missense_Mutation_p.P67T	NM_001171991	NP_005324	P53701	CCHL_HUMAN	Homo sapiens holocytochrome c synthase (HCCS), transcript variant 3, mRNA.	67					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)	7						CGTGGAGTGTCCCATTAGGGG	0.498													43	56					1.41504e-22	1.50079e-22	1	1	0	A	11133053	C	A	11133053	3	1	65	1	0	0	0	0	1	0	0	0	6990	855	30	5	205	5	HCCS	23	11133053	Missense_Mutation	SNP	C	TCGA-DU-5874-01A-11D-1705-08		11133053	144137507	50	2789											
GABRE	2564	broad.mit.edu	37	chrX	151123361	151123361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgcaccactcacagcaggCcagcttggagcagaggctgc	9	6	12	14	0	1	1	1	0	0	1	1	2	1	2	2	3	5	5	2	3	0	2			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chrX:151123361C>T	uc004ffi.3	-	8	1387	c.1333G>A	c.(1333-1335)Gcc>Acc	p.A445T	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_Non-coding_Transcript	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	445					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCACAGCAGGCCAGCTTGGAG	0.617													21	22					0	0	1	0	0	T	151123361	C	T	151123361	3	4	65	1	0	0	0	0	1	0	0	0	6170	739	26	3	191	3	GABRE	23	151123361	Missense_Mutation	SNP	C	TCGA-DU-5874-01A-11D-1705-08	139990308	151123361	4147199	51	2790											
ATP2B3	492	broad.mit.edu	37	chrX	152845601	152845601	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgtggacgagaacgaggagCgcctccgggcccccccgccc	7	2	14	18	6	0	1	0	0	0	1	1	5	1	3	6	3	2	0	6	3	1	0			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chrX:152845601C>T	uc004fht.1	+	19	3634	c.3508C>T	c.(3508-3510)Cgc>Tgc	p.R1170C	ATP2B3_uc004fhs.1_3'UTR|ATP2B3_uc010nuf.1_Missense_Mutation_p.R307C|ATP2B3_uc004fhu.1_Missense_Mutation_p.R122C	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	1170					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	p.R1170C(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAACGAGGAGCGCCTCCGGGC	0.592													67	68					0	0	1	0	0	T	152845601	C	T	152845601	3	4	65	1	0	0	0	0	1	0	0	0	1141	768	27	1	3744	1	ATP2B3	23	152845601	Missense_Mutation	SNP	C	TCGA-DU-5874-01A-11D-1705-08	1722240	152845601	2424959	52	2791											
MTOR	2475	broad.mit.edu	37	chr1	11177096	11177096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatatacccaaccattgaCatgaccgctaaagaacgggt	17	7	7	10	2	0	3	0	2	0	1	0	3	0	3	3	1	3	1	3	1	8	4			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr1:11177096C>T	uc001asd.3	-	49	7102	c.6981G>A	c.(6979-6981)atG>atA	p.M2327I	MTOR_uc001asc.3_Missense_Mutation_p.M532I	NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	2327	PI3K/PI4K.				T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CAACCATTGACATGACCGCTA	0.383													33	11					0	0	0.064281	0	0	T	11177096	C	T	11177096	3	4	66	1	0	0	0	0	1	0	0	0	9954	478	17	3	704	3	MTOR	1	11177096	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08		11177096	238073525	1	2792											
INSL5	10022	broad.mit.edu	37	chr1	67266844	67266844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcacagactccttgctccGcacttctgagatggcaaata	10	11	7	13	1	2	2	1	1	2	2	5	3	4	2	2	1	1	3	2	1	2	3	rs146406445	byFrequency	TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr1:67266844G>A	uc001dcw.3	-	0	99	c.61C>T	c.(61-63)Cgg>Tgg	p.R21W		NM_005478	NP_005469	Q9Y5Q6	INSL5_HUMAN	Homo sapiens insulin-like 5 (INSL5), mRNA.	21						extracellular region	hormone activity			breast(2)|endometrium(1)|lung(5)	8						TCCTTGCTCCGCACTTCTGAG	0.453													12	20					0	0	0.080935	0	0	A	67266844	G	A	67266844	3	1	66	1	0	0	0	0	1	0	0	0	7769	1086	38	1	354	1	INSL5	1	67266844	Missense_Mutation	SNP	G	TCGA-DU-6393-01A-11D-1705-08	56089748	67266844	181983777	2	2793											
ASB17	127247	broad.mit.edu	37	chr1	76387892	76387892	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctcgaagggtagagtactAttgttaagacaatgttgata	13	13	10	5	1	1	3	0	1	1	2	2	4	1	3	0	1	1	4	0	1	7	7			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr1:76387892A>G	uc001dhe.2	-	1	694	c.554T>C	c.(553-555)aTa>aCa	p.I185T	ASB17_uc001dhf.2_Non-coding_Transcript	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 17 (ASB17), transcript variant 1, mRNA.	185					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						GTAGAGTACTATTGTTAAGAC	0.358													23	8					0	0	0.083992	0	0	G	76387892	A	G	76387892	3	3	66	1	0	0	0	0	1	0	0	0	1021	449	16	3	341	3	ASB17	1	76387892	Missense_Mutation	SNP	A	TCGA-DU-6393-01A-11D-1705-08	9121048	76387892	172862729	3	2794											
TCHH	7062	broad.mit.edu	37	chr1	152085364	152085364	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcttgcctgcgatcttgtAacaggctctcctttccgtca	5	15	7	14	2	4	0	1	0	3	0	6	1	5	0	3	1	3	2	3	1	1	5			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr1:152085364A>G	uc009wne.1	-	2	601	c.329T>C	c.(328-330)tTa>tCa	p.L110S	TCHH_uc001ezp.2_Missense_Mutation_p.L110S	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	110					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCGATCTTGTAACAGGCTCTC	0.542													94	73					0	0	0.048971	0	0	G	152085364	A	G	152085364	3	3	66	1	0	0	0	0	1	0	0	0	15697	372	13	3	5506	3	TCHH	1	152085364	Missense_Mutation	SNP	A	TCGA-DU-6393-01A-11D-1705-08	75697472	152085364	97165257	4	2795											
HRNR	388697	broad.mit.edu	37	chr1	152187067	152187067	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagaggactgccatgagctAgactcgtggtgaccaaatcc	11	7	11	12	1	0	4	0	2	0	2	2	5	1	5	4	2	2	1	4	2	2	1			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr1:152187067A>T	uc001ezt.1	-	2	7114	c.7038T>A	c.(7036-7038)tcT>tcA	p.S2346S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2346					keratinization		calcium ion binding|protein binding	p.E2345K(1)|p.E2345*(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCATGAGCTAGACTCGTGGT	0.572													68	911					0	0	0.048971	0	0	T	152187067	A	T	152187067	2	4	66	1	0	0	0	0	0	0	0	1	7359	407	15	5		5	HRNR	1	152187067	Silent	SNP	A	TCGA-DU-6393-01A-11D-1705-08	101703	152187067	97063554	5	2796											
FCRL1	115350	broad.mit.edu	37	chr1	157766909	157766909	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accttgtcctccatatgtgtCcccagggtttctgctgtgga	5	14	10	12	0	1	0	0	0	1	0	4	1	4	1	5	2	1	2	5	2	1	3			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr1:157766909C>T	uc001frg.3	-	9	1313	c.1200G>A	c.(1198-1200)ggG>ggA	p.G400G	FCRL1_uc001frf.3_Non-coding_Transcript|FCRL1_uc001frh.3_Silent_p.G399G|FCRL1_uc001fri.3_Missense_Mutation_p.G358E|FCRL1_uc001frj.3_Non-coding_Transcript	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	400						integral to membrane|plasma membrane	receptor activity	p.G400E(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCATATGTGTCCCCAGGGTTT	0.403													25	68					0	0	0.108266	0	0	T	157766909	C	T	157766909	2	4	66	1	0	0	0	0	0	0	0	1	5794	855	30	3		3	FCRL1	1	157766909	Silent	SNP	C	TCGA-DU-6393-01A-11D-1705-08	5579842	157766909	91483712	6	2797											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								22	39					0	0	0.069288	0	0	T	209113112	C	T	209113112	3	4	66	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08		209113112	34086261	7	2798											
DIS3L2	129563	broad.mit.edu	37	chr2	233028242	233028242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatactaacagagtatggcGtggatttctctgatttctct	10	15	9	7	1	2	2	0	1	2	1	4	4	2	3	0	2	2	1	0	2	4	5			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr2:233028242G>A	uc010fxz.3	+	8	1300	c.1024G>A	c.(1024-1026)Gtg>Atg	p.V342M	DIS3L2_uc002vsm.4_Non-coding_Transcript|DIS3L2_uc002vso.3_Non-coding_Transcript	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like 2 (DIS3L2), mRNA.	342							RNA binding|exonuclease activity|ribonuclease activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		AGAGTATGGCGTGGATTTCTC	0.453													14	37					0	0	0.020292	0	0	A	233028242	G	A	233028242	3	1	66	1	0	0	0	0	1	0	0	0	4537	1145	40	1	1054	1	DIS3L2	2	233028242	Missense_Mutation	SNP	G	TCGA-DU-6393-01A-11D-1705-08	23915130	233028242	10171131	8	2799											
ZBTB20	26137	broad.mit.edu	37	chr3	114069362	114069362	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggctgaagaggaaaggcttGgggccactgcccgcgggctg	8	5	18	10	2	0	2	0	1	0	1	0	3	0	3	2	6	1	3	2	6	2	1			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr3:114069362G>A	uc003ebi.3	-	3	1743	c.1563C>T	c.(1561-1563)ccC>ccT	p.P521P	ZBTB20_uc003ebj.3_Silent_p.P448P|ZBTB20_uc010hqp.3_Silent_p.P448P|ZBTB20_uc003ebk.3_Silent_p.P448P|ZBTB20_uc003ebl.3_Silent_p.P448P|ZBTB20_uc003ebm.3_Silent_p.P448P|ZBTB20_uc003ebn.3_Silent_p.P448P|ZBTB20-AS1_uc003ebo.2_5'Flank	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GGAAAGGCTTGGGGCCACTGC	0.627													28	45					0	0	0.041601	0	0	A	114069362	G	A	114069362	2	1	66	1	0	0	0	0	0	0	0	1	17526	1335	47	3		3	ZBTB20	3	114069362	Silent	SNP	G	TCGA-DU-6393-01A-11D-1705-08		114069362	83953068	9	2800											
BFSP2	8419	broad.mit.edu	37	chr3	133119336	133119336	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggagctggaaacacaactgCggatgcacctggagagcaaa	15	4	13	9	1	0	1	0	0	0	1	0	5	0	4	1	4	6	3	1	4	3	0			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr3:133119336C>T	uc003epn.1	+	0	547	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W		NM_003571	NP_003562	Q13515	BFSP2_HUMAN	Homo sapiens beaded filament structural protein 2, phakinin (BFSP2), mRNA.	137	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						AACACAACTGCGGATGCACCT	0.607													18	28					0	0	0.043863	0	0	T	133119336	C	T	133119336	3	4	66	1	0	0	0	0	1	0	0	0	1416	759	27	1	411	1	BFSP2	3	133119336	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08	19049974	133119336	64903094	10	2801											
GPR98	84059	broad.mit.edu	37	chr5	90000251	90000251	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatttgttggatgacaacAttcctgaggagaaagaagta	14	11	11	5	0	0	4	0	2	0	2	1	6	1	5	1	2	2	3	1	2	4	4			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr5:90000251A>T	uc003kju.3	+	35	8428	c.8332A>T	c.(8332-8334)Att>Ttt	p.I2778F	GPR98_uc003kjt.3_Missense_Mutation_p.I484F|GPR98_uc003kjv.3_Missense_Mutation_p.I378F	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2778	Calx-beta 19.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGATGACAACATTCCTGAGGA	0.333													4	3					0	0	0.014758	0	0	T	90000251	A	T	90000251	3	4	66	1	0	0	0	0	1	0	0	0	6721	217	8	5	8474	5	GPR98	5	90000251	Missense_Mutation	SNP	A	TCGA-DU-6393-01A-11D-1705-08		90000251	90915009	11	2802											
RAPGEF6	51735	broad.mit.edu	37	chr5	131013435	131013435	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttatatggatgagtctttgCcaacatgtccacactctgag	10	13	9	9	0	2	2	0	2	2	0	3	3	3	3	2	1	2	1	2	1	3	3			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr5:131013435C>T	uc003kvs.1	-	12	1622	c.1480G>A	c.(1480-1482)Gca>Aca	p.A494T	RAPGEF6_uc003kvp.2_Intron|RAPGEF6_uc003kvt.1_Missense_Mutation_p.A466T|RAPGEF6_uc010jdm.1_Missense_Mutation_p.A449T|RAPGEF6_uc003kvu.3_Missense_Mutation_p.A494T	NM_133372	NP_588613	Q8TEU7	RPGF6_HUMAN	Homo sapiens folliculin interacting protein 1 (FNIP1), transcript variant 1, mRNA.	0	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TGAGTCTTTGCCAACATGTCC	0.383													33	56					0	0	0.054565	0	0	T	131013435	C	T	131013435	3	4	66	1	0	0	0	0	1	0	0	0	13048	739	26	3		3	RAPGEF6	5	131013435	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08	41013184	131013435	49901825	12	2803											
RELN	5649	broad.mit.edu	37	chr7	103180840	103180840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagaatactgtaggagcacgGgttgactcctggggtcagga	10	8	16	7	1	1	2	1	1	0	1	2	5	2	4	1	5	2	3	1	5	3	3			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr7:103180840G>A	uc022ajr.1	-	43	6894	c.6734C>T	c.(6733-6735)cCc>cTc	p.P2245L	RELN_uc022ajq.1_Missense_Mutation_p.P2245L|RELN_uc010liz.3_Missense_Mutation_p.P2245L	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2245					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TAGGAGCACGGGTTGACTCCT	0.488													52	39					0	0	0.048971	0	0	A	103180840	G	A	103180840	3	1	66	1	0	0	0	0	1	0	0	0	13220	1232	43	3	3736	3	RELN	7	103180840	Missense_Mutation	SNP	G	TCGA-DU-6393-01A-11D-1705-08		103180840	55957823	13	2804											
KLF14	136259	broad.mit.edu	37	chr7	130418291	130418291	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattggtggcgcttggcagcAggtgtgacagacctcctccg	6	9	14	12	2	0	2	0	1	0	1	2	2	2	2	3	4	1	3	3	4	0	2			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr7:130418291A>G	uc003vqk.2	-	0	598	c.570T>C	c.(568-570)ccT>ccC	p.P190P		NM_138693	NP_619638	Q8TD94	KLF14_HUMAN	Homo sapiens Kruppel-like factor 14 (KLF14), mRNA.	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					GCTTGGCAGCAGGTGTGACAG	0.701													7	9					0	0	0.02938	0	0	G	130418291	A	G	130418291	2	3	66	1	0	0	0	0	0	0	0	1	8342	175	7	4		4	KLF14	7	130418291	Silent	SNP	A	TCGA-DU-6393-01A-11D-1705-08	27237451	130418291	28720372	14	2805											
MKRN1	23608	broad.mit.edu	37	chr7	140154990	140154990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaaacagttccctccaaatgGgcagctcccacgtccttcat	11	9	6	15	1	1	0	1	0	0	0	5	0	5	0	4	1	2	3	4	1	3	2			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr7:140154990G>A	uc003vvt.2	-	6	1366	c.1141C>T	c.(1141-1143)Cca>Tca	p.P381S	MKRN1_uc003vvs.2_Missense_Mutation_p.P317S|MKRN1_uc011krd.1_Missense_Mutation_p.P115S	NM_013446	NP_038474	Q9UHC7	MKRN1_HUMAN	Homo sapiens makorin ring finger protein 1 (MKRN1), transcript variant 1, mRNA.	381							ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CCTCCAAATGGGCAGCTCCCA	0.483													8	135					0	0	0.069234	0	0	A	140154990	G	A	140154990	3	1	66	1	0	0	0	0	1	0	0	0	9606	1232	43	3	315	3	MKRN1	7	140154990	Missense_Mutation	SNP	G	TCGA-DU-6393-01A-11D-1705-08	9736699	140154990	18983673	15	2806											
EPHB6	2051	broad.mit.edu	37	chr7	142564303	142564303	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcatcacggtgtcctggccGcagcccgaccagaccaatgg	9	5	12	15	3	1	1	1	0	0	1	2	2	2	1	5	3	2	2	5	3	1	0	rs111424188		TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr7:142564303G>A	uc011kst.2	+	9	2314	c.1527G>A	c.(1525-1527)ccG>ccA	p.P509P	EPHB6_uc011ksu.2_Silent_p.P509P|EPHB6_uc003wbs.3_Silent_p.P217P|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_Silent_p.P217P|EPHB6_uc003wbv.3_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	509	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TGTCCTGGCCGCAGCCCGACC	0.582													3	64					0	0	0.009096	0	0	A	142564303	G	A	142564303	2	1	66	1	0	0	0	0	0	0	0	1	5178	1074	38	1		1	EPHB6	7	142564303	Silent	SNP	G	TCGA-DU-6393-01A-11D-1705-08	2409313	142564303	16574360	16	2807											
PROSC	11212	broad.mit.edu	37	chr8	37623846	37623846	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcacttcattggccacctaCagaaacaaaatgtcaacaaa	17	7	6	11	0	2	1	2	0	0	1	2	1	2	1	2	2	3	1	2	2	6	3			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr8:37623846C>G	uc003xkh.3	+	3	369	c.292C>G	c.(292-294)Cag>Gag	p.Q98E		NM_007198	NP_009129	O94903	PROSC_HUMAN	Homo sapiens proline synthetase co-transcribed homolog (bacterial) (PROSC), mRNA.	98							pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)	TGGCCACCTACAGAAACAAAA	0.358													53	86					0	0	0.048971	0	0	G	37623846	C	G	37623846	3	3	66	1	0	0	0	0	1	0	0	0	12559	479	17	5	306	5	PROSC	8	37623846	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08		37623846	108740176	17	2808											
TNFRSF11B	4982	broad.mit.edu	37	chr8	119945444	119945444	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggtaccaggaggacatttGtcacacaacagctgatgaga	14	8	11	8	0	1	2	1	2	0	1	1	5	1	4	1	3	3	2	1	3	3	3			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr8:119945444G>A	uc003yon.4	-	1	449	c.126C>T	c.(124-126)gaC>gaT	p.D42D	TNFRSF11B_uc010mdc.1_Non-coding_Transcript	NM_002546	NP_002537	O00300	TR11B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11b (TNFRSF11B), mRNA.	42					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GAGGACATTTGTCACACAACA	0.483													91	119					0	0	0.048971	0	0	A	119945444	G	A	119945444	2	1	66	1	0	0	0	0	0	0	0	1	16282	1368	48	3		3	TNFRSF11B	8	119945444	Silent	SNP	G	TCGA-DU-6393-01A-11D-1705-08	82321598	119945444	26418578	18	2809											
GLIS3	169792	broad.mit.edu	37	chr9	3829411	3829411	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaaacgaaggcaccacaCtgcaggagctgacaggcggc	12	3	12	14	2	1	1	1	1	0	0	1	3	1	2	2	4	3	3	2	4	2	0			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr9:3829411C>G	uc003zhx.1	-	9	3268	c.2555G>C	c.(2554-2556)aGt>aCt	p.S852T	GLIS3_uc010mhf.1_Missense_Mutation_p.S246T|GLIS3_uc003zhv.1_Non-coding_Transcript|GLIS3_uc003zhw.1_Missense_Mutation_p.S697T	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	697					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		AGGCACCACACTGCAGGAGCT	0.542													38	1					0	0	0.074837	0	0	G	3829411	C	G	3829411	3	3	66	1	0	0	0	0	1	0	0	0	6447	565	20	5	245	5	GLIS3	9	3829411	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08		3829411	137384020	19	2810											
TAF1L	138474	broad.mit.edu	37	chr9	32630690	32630690	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atccttctcaagttgagtcaAatgctcatcatactcagtaa	13	13	5	10	0	5	1	5	1	1	0	7	1	6	1	1	0	2	3	1	0	4	4			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr9:32630690A>G	uc003zrg.1	-	0	4978	c.4888T>C	c.(4888-4890)Ttg>Ctg	p.L1630L	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1630					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGTTGAGTCAAATGCTCATCA	0.433													149	11					0	0	0.048971	0	0	G	32630690	A	G	32630690	2	3	66	1	0	0	0	0	0	0	0	1	15520	11	1	3		3	TAF1L	9	32630690	Silent	SNP	A	TCGA-DU-6393-01A-11D-1705-08	28801279	32630690	108582741	20	2811											
CRAT	1384	broad.mit.edu	37	chr9	131857756	131857756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtaatgcgccaggcgggCggcgttggtctccgcgcagc	5	6	17	13	6	1	0	0	0	1	0	2	0	1	0	2	5	2	3	2	5	1	2			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr9:131857756C>T	uc004bxh.3	-	13	2083	c.1801G>A	c.(1801-1803)Gcc>Acc	p.A601T	CRAT_uc004bxk.4_Missense_Mutation_p.A580T	NM_000755	NP_000746	P43155	CACP_HUMAN	Homo sapiens carnitine O-acetyltransferase (CRAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	601					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GCCAGGCGGGCGGCGTTGGTC	0.667													15	19					0	0	0.028581	0	0	T	131857756	C	T	131857756	3	4	66	1	0	0	0	0	1	0	0	0	3847	768	27	1	83	1	CRAT	9	131857756	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08	99227066	131857756	9355675	21	2812											
QSER1	79832	broad.mit.edu	37	chr11	32955602	32955603	+	In_Frame_Ins	INS	-	-	ATT																															ctctctgagtcttcaaaaccINSattacaacaacatctaacaa																										TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr11:32955602_32955603insATT	uc001mty.3	+	3	2678_2679	c.2411_2412insATT	c.(2410-2412)cca>ccATTa	p.805_806insL	QSER1_uc001mtz.1_In_Frame_Ins_p.566_567insL|QSER1_uc001mua.3_In_Frame_Ins_p.310_311insL	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	805										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TCTTCAAAACCATTACAACAAC	0.376													39	112	---	---	---	---						ATT	32955603	-	ATT	32955602	7	5	66	1	0	1	1	0	0	0	0	0	12882	594	21	0	2417	0	QSER1	11	32955602	In_Frame_Ins	INS	-	TCGA-DU-6393-01A-11D-1705-08		32955602	102050914	22	2813											
OR10S1	219873	broad.mit.edu	37	chr11	123847515	123847515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatgaatgggttgagcattGgagttacgattgtgtagaag	13	12	14	2	1	0	3	0	2	0	1	0	5	0	4	0	2	2	4	0	2	5	5			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr11:123847515G>A	uc001pzm.1	-	0	884	c.884C>T	c.(883-885)cCa>cTa	p.P295L		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTTGAGCATTGGAGTTACGAT	0.542													87	59					0	0	0.048971	0	0	A	123847515	G	A	123847515	3	1	66	1	0	0	0	0	1	0	0	0	10918	1348	47	3	115	3	OR10S1	11	123847515	Missense_Mutation	SNP	G	TCGA-DU-6393-01A-11D-1705-08	90891913	123847515	11159001	23	2814											
GRIN2B	2904	broad.mit.edu	37	chr12	13716187	13716187	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggctcccatccatgaatcGgcccttgtctttcaggctta	6	12	10	13	1	2	1	1	1	1	0	5	1	4	1	3	4	0	2	3	4	2	3			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr12:13716187G>A	uc001rbt.2	-	12	4164	c.3985C>T	c.(3985-3987)Cga>Tga	p.R1329*		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1329					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCCATGAATCGGCCCTTGTCT	0.597													28	31					0	0	0.034045	0	0	A	13716187	G	A	13716187	4	1	66	1	0	0	0	0	0	1	0	0	6780	1124	39	2	473	2	GRIN2B	12	13716187	Nonsense_Mutation	SNP	G	TCGA-DU-6393-01A-11D-1705-08		13716187	120135708	24	2815											
FRY	10129	broad.mit.edu	37	chr13	32869503	32869503	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccaagctgatggagctgaAcatggagatccgggacatga	13	6	13	9	1	0	4	0	3	0	1	1	7	1	6	2	3	3	2	2	3	2	0			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr13:32869503A>G	uc001utx.3	+	60	9444	c.8948A>G	c.(8947-8949)aAc>aGc	p.N2983S	FRY_uc010tdw.2_Non-coding_Transcript|FRY_uc001utz.3_Missense_Mutation_p.N514S|FRY_uc010tdx.2_Missense_Mutation_p.N353S	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2983					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATGGAGCTGAACATGGAGATC	0.532													3	52					0	0	0.004672	0	0	G	32869503	A	G	32869503	3	3	66	1	0	0	0	0	1	0	0	0	6063	43	2	3	9190	3	FRY	13	32869503	Missense_Mutation	SNP	A	TCGA-DU-6393-01A-11D-1705-08		32869503	82300375	25	2816											
TUBGCP3	10426	broad.mit.edu	37	chr13	113140437	113140437	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgtcagagctggtcgtcAgtaacaccaaaaactgctgc	11	9	9	12	2	3	1	2	0	1	1	5	1	3	1	1	1	5	3	1	1	3	1			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr13:113140437A>G	uc001vse.1	-	21	2781	c.2594T>C	c.(2593-2595)cTg>cCg	p.L865P	TUBGCP3_uc010tjq.1_Missense_Mutation_p.L855P	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA.	865					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GCTGGTCGTCAGTAACACCAA	0.473													2	9					0	0	0.004672	0	0	G	113140437	A	G	113140437	3	3	66	1	0	0	0	0	1	0	0	0	16764	188	7	4	133	4	TUBGCP3	13	113140437	Missense_Mutation	SNP	A	TCGA-DU-6393-01A-11D-1705-08	80270934	113140437	2029441	26	2817											
C15orf2	23742	broad.mit.edu	37	chr15	24921723	24921723	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgagctcctgcttggaaggcCctgccatgcccagcacacac	8	6	10	17	1	0	0	0	0	0	0	1	2	1	1	4	2	5	3	4	2	1	1			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr15:24921723C>T	uc001ywo.3	+	0	1183	c.709C>T	c.(709-711)Cct>Tct	p.P237S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	237					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CTTGGAAGGCCCTGCCATGCC	0.622													11	0					0	0	0.069234	0	0	T	24921723	C	T	24921723	3	4	66	1	0	0	0	0	1	0	0	0	1784	623	22	3	711	3	C15orf2	15	24921723	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08		24921723	77609669	27	2818											
ADAM10	102	broad.mit.edu	37	chr15	58925546	58925546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtttacttttttcacatattCctccagagcttcctaatcca	9	17	3	12	0	1	1	1	0	0	1	5	1	5	1	4	0	2	2	4	0	3	9			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr15:58925546C>T	uc002afd.1	-	8	1469	c.1025G>A	c.(1024-1026)gGa>gAa	p.G342E	ADAM10_uc010bgc.1_Non-coding_Transcript|ADAM10_uc010ugz.1_Missense_Mutation_p.G41E|ADAM10_uc002afe.1_Non-coding_Transcript	NM_001110	NP_001101	O14672	ADA10_HUMAN	Homo sapiens ADAM metallopeptidase domain 10 (ADAM10), mRNA.	342	Peptidase M12B.				Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|positive regulation of T cell chemotaxis|positive regulation of cell growth|positive regulation of cell proliferation|protein phosphorylation|response to tumor necrosis factor	Golgi-associated vesicle|cell surface|endomembrane system|integral to membrane|nucleus|plasma membrane	SH3 domain binding|integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TTCACATATTCCTCCAGAGCT	0.343													16	6					0	0	0.0333	0	0	T	58925546	C	T	58925546	3	4	66	1	0	0	0	0	1	0	0	0	234	855	30	3	1253	3	ADAM10	15	58925546	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08	34003823	58925546	43605846	28	2819											
ISL2	64843	broad.mit.edu	37	chr15	76630688	76630688	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtaccacatcgagtgctTccgctgctccgtgtgcagcc	5	10	11	15	4	0	0	0	0	0	0	3	1	2	0	4	0	5	5	4	0	1	2			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr15:76630688T>C	uc002bbw.1	+	2	422	c.344T>C	c.(343-345)tTc>tCc	p.F115S	ISL2_uc021sqw.1_Non-coding_Transcript	NM_145805	NP_665804	Q96A47	ISL2_HUMAN	Homo sapiens ISL LIM homeobox 2 (ISL2), mRNA.	115	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						ATCGAGTGCTTCCGCTGCTCC	0.682													2	4					0	0	0.004672	0	0	C	76630688	T	C	76630688	3	2	66	1	0	0	0	0	1	0	0	0	7857	1783	62	3	354	3	ISL2	15	76630688	Missense_Mutation	SNP	T	TCGA-DU-6393-01A-11D-1705-08	17705142	76630688	25900704	29	2820											
HEATR3	55027	broad.mit.edu	37	chr16	50136288	50136288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taaagaagccgaaagagcctCgattcaaattaaattattat	18	11	6	6	2	1	2	1	0	0	2	2	4	1	2	2	0	2	0	2	0	9	5			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr16:50136288C>T	uc002efw.3	+	13	2024	c.1862C>T	c.(1861-1863)tCg>tTg	p.S621L	HEATR3_uc002efx.3_Missense_Mutation_p.S535L|HEATR3_uc021thw.1_Missense_Mutation_p.S163L	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	Homo sapiens HEAT repeat containing 3 (HEATR3), mRNA.	621							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GAAAGAGCCTCGATTCAAATT	0.378													32	84					0	0	0.054565	0	0	T	50136288	C	T	50136288	3	4	66	1	0	0	0	0	1	0	0	0	7029	893	31	2	1916	2	HEATR3	16	50136288	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08		50136288	40218465	30	2821											
NOS2	4843	broad.mit.edu	37	chr17	26107803	26107803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcctacttacttgggatgttCcatggccacctcaagcacaa	10	10	8	13	0	1	0	1	0	0	0	2	1	2	1	4	2	3	2	4	2	4	4			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr17:26107803C>T	uc002gzu.3	-	8	1258	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K	NOS2_uc010crh.1_Missense_Mutation_p.E332K|NOS2_uc010wab.1_Missense_Mutation_p.E332K	NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	332					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TTGGGATGTTCCATGGCCACC	0.597													15	26					0	0	0.024245	0	0	T	26107803	C	T	26107803	3	4	66	1	0	0	0	0	1	0	0	0	10543	864	30	3	2543	3	NOS2	17	26107803	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08		26107803	55087407	31	2822											
WNT3	7473	broad.mit.edu	37	chr17	44845704	44845704	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctacttgcaggtgtgcacGtcgtagatgcgaatacactc	9	10	10	12	3	0	1	0	0	0	1	2	2	0	1	1	1	5	3	1	1	4	4			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr17:44845704G>A	uc002ikv.2	-	3	1169	c.1050C>T	c.(1048-1050)gaC>gaT	p.D350D		NM_030753	NP_110380	P56703	WNT3_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3 (WNT3), mRNA.	350					Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			AGGTGTGCACGTCGTAGATGC	0.607													3	49					0	0	0.004672	0	0	A	44845704	G	A	44845704	2	1	66	1	0	0	0	0	0	0	0	1	17385	1136	40	1		1	WNT3	17	44845704	Silent	SNP	G	TCGA-DU-6393-01A-11D-1705-08	18737901	44845704	36349506	32	2823											
LRRC37A2	474170	broad.mit.edu	37	chr17	45127107	45127107	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctacaccaagccttcgttcaCccaagagcataaggcagcag	13	6	8	14	1	1	1	1	0	0	1	2	1	1	1	3	1	4	4	3	1	4	4	rs147409399	by1000genomes	TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr17:45127107C>G	uc010wkj.1	+	1	659	c.305C>G	c.(304-306)aCc>aGc	p.T102S	ARL17_uc021tzb.1_Intron|DQ597730_uc010wkl.2_Non-coding_Transcript			A6NM11	L37A2_HUMAN	Homo sapiens cDNA FLJ42521 fis, clone BRACE3000973.	1238						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		CCTTCGTTCACCCAAGAGCAT	0.592													4	68					0	0	0.009096	0	0	G	45127107	C	G	45127107	3	3	66	1	0	0	0	0	1	0	0	0	8992	522	18	5		5	LRRC37A2	17	45127107	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08	281403	45127107	36068103	33	2824											
CACNA1G	8913	broad.mit.edu	37	chr17	48669423	48669423	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgctcttcaatttgctggtCgccattctggtggagggctt	4	15	13	9	1	3	0	1	0	2	0	4	1	3	1	1	4	2	3	1	4	1	4			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr17:48669423C>T	uc002irk.1	+	12	3252	c.2880C>T	c.(2878-2880)gtC>gtT	p.V960V	CACNA1G_uc002iri.1_Silent_p.V960V|CACNA1G_uc002irj.1_Silent_p.V960V|CACNA1G_uc002irl.1_Silent_p.V960V|CACNA1G_uc002irm.1_Silent_p.V960V|CACNA1G_uc002irn.1_Silent_p.V960V|CACNA1G_uc002iro.1_Silent_p.V960V|CACNA1G_uc002irp.1_Silent_p.V960V|CACNA1G_uc002irq.1_Silent_p.V960V|CACNA1G_uc002irr.1_Silent_p.V960V|CACNA1G_uc002irs.1_Silent_p.V960V|CACNA1G_uc002irt.1_Silent_p.V960V|CACNA1G_uc002iru.1_Silent_p.V960V|CACNA1G_uc002irv.1_Silent_p.V960V|CACNA1G_uc002irw.1_Silent_p.V960V|CACNA1G_uc002irx.1_Silent_p.V873V|CACNA1G_uc002iry.1_Silent_p.V873V|CACNA1G_uc002isg.1_Silent_p.V873V|CACNA1G_uc002ish.1_Silent_p.V873V|CACNA1G_uc002isi.1_Silent_p.V873V|CACNA1G_uc002irz.1_Silent_p.V873V|CACNA1G_uc002isa.1_Silent_p.V873V|CACNA1G_uc002isd.1_Silent_p.V873V|CACNA1G_uc002isb.1_Silent_p.V873V|CACNA1G_uc002isc.1_Silent_p.V873V|CACNA1G_uc002ise.1_Silent_p.V873V|CACNA1G_uc002isf.1_Silent_p.V873V	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	960					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ATTTGCTGGTCGCCATTCTGG	0.572													15	20					0	0	0.038395	0	0	T	48669423	C	T	48669423	2	4	66	1	0	0	0	0	0	0	0	1	2544	871	31	2		2	CACNA1G	17	48669423	Silent	SNP	C	TCGA-DU-6393-01A-11D-1705-08	3542316	48669423	32525787	34	2825											
SDK2	54549	broad.mit.edu	37	chr17	71429886	71429886	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctacctttctgccaagtgaTagctggtcggggcgcccccg	5	10	12	14	3	2	1	0	1	2	0	3	1	2	1	4	3	3	1	4	3	3	3			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr17:71429886T>C	uc010dfm.3	-	9	1297	c.1297A>G	c.(1297-1299)Atc>Gtc	p.I433V	SDK2_uc010dfn.2_Missense_Mutation_p.I112V	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	433	Ig-like C2-type 5.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGCCAAGTGATAGCTGGTCGG	0.577													3	5					0	0	0.004672	0	0	C	71429886	T	C	71429886	3	2	66	1	0	0	0	0	1	0	0	0	13969	1406	49	3	5365	3	SDK2	17	71429886	Missense_Mutation	SNP	T	TCGA-DU-6393-01A-11D-1705-08	22760463	71429886	9765324	35	2826											
CIC	23152	broad.mit.edu	37	chr19	42796321	42796322	+	Frame_Shift_Del	DEL	CT	CT	-																															gccacactccctggacccacCtctcagcctcagaaggtcct																										TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr19:42796321_42796322delCT	uc002otf.1	+	11	3010_3011	c.2970_2971delCT	c.(2968-2973)acctctfs	p.T990fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	990	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CTGGACCCACCTCTCAGCCTCA	0.663			"Mis, F, S"		oligodendroglioma								24	9	---	---	---	---						-	42796322	CT	-	42796321	7	5	66	1	0	1	0	1	0	0	0	0	3424	668	24	0	3016	0	CIC	19	42796321	Frame_Shift_Del	DEL	CT	TCGA-DU-6393-01A-11D-1705-08		42796321	16332662	36	2827											
XRN2	22803	broad.mit.edu	37	chr20	21328891	21328891	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgagaagggtacgaaaccGgtaagcttaattacttaaag	15	11	10	5	2	0	1	0	1	0	1	0	3	0	1	1	2	4	3	1	2	8	6			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr20:21328891G>A	uc002wsf.1	+	18	1868	c.1773_splice	c.e18+1	p.P591_splice	XRN2_uc002wsg.1_Splice_Site_p.P515_splice|XRN2_uc010zsk.1_Splice_Site_p.P537_splice	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	Homo sapiens 5'-3' exoribonuclease 2 (XRN2), mRNA.	591					DNA catabolic process, exonucleolytic|RNA catabolic process|cell growth|mRNA processing|regulation of transcription, DNA-dependent|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						GTACGAAACCGGTAAGCTTAA	0.338													3	73					0	0	0.004672	0	0	A	21328891	G	A	21328891	5	1	66	1	0	0	0	0	0	0	1	0	17457	1130	39	2	1843	2	XRN2	20	21328891	Splice_Site	SNP	G	TCGA-DU-6393-01A-11D-1705-08		21328891	41696629	37	2828											
KRTAP10-10	353333	broad.mit.edu	37	chr21	46057415	46057415	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactgcccagagagctgctgCgagccctgctgctgtgcccc	5	7	13	16	1	0	1	0	0	0	1	0	4	0	1	4	0	8	4	4	0	0	0			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr21:46057415C>T	uc002zfq.3	+	0	143	c.81C>T	c.(79-81)tgC>tgT	p.C27C	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181688	NP_859016	P60014	KR10A_HUMAN	Homo sapiens keratin associated protein 10-10 (KRTAP10-10), mRNA.	27	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						AGAGCTGCTGCGAGCCCTGCT	0.682													50	77					0	0	0.048971	0	0	T	46057415	C	T	46057415	2	4	66	1	0	0	0	0	0	0	0	1	8506	776	27	1		1	KRTAP10-10	21	46057415	Silent	SNP	C	TCGA-DU-6393-01A-11D-1705-08		46057415	2072480	38	2829											
CABIN1	23523	broad.mit.edu	37	chr22	24567940	24567940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acacaggcctgaagctacccCcagcatggcctctctgggcc	8	6	10	17	0	1	1	0	1	1	0	2	1	1	1	5	3	3	2	5	3	2	1			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr22:24567940C>T	uc002zzi.1	+	33	6144	c.6017C>T	c.(6016-6018)cCc>cTc	p.P2006L	CABIN1_uc021wnc.1_Missense_Mutation_p.P1956L|CABIN1_uc002zzj.1_Missense_Mutation_p.P1927L|CABIN1_uc002zzl.2_Missense_Mutation_p.P2006L|CABIN1_uc010gul.1_5'UTR	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	2006					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAAGCTACCCCCAGCATGGCC	0.647													10	13					0	0	0.058154	0	0	T	24567940	C	T	24567940	3	4	66	1	0	0	0	0	1	0	0	0	2528	623	22	3	6147	3	CABIN1	22	24567940	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08		24567940	26736626	39	2830											
PCDH11Y	83259	broad.mit.edu	37	chrY	5605958	5605958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accgtccagaggtgattcccCcattatggaaacacatccct	11	9	7	14	1	0	2	0	1	0	1	3	3	3	3	5	2	1	0	5	2	2	2			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chrY:5605958C>T	uc004fqo.3	+	4	4732	c.3998C>T	c.(3997-3999)cCc>cTc	p.P1333L	PCDH11Y_uc022ciy.1_Non-coding_Transcript	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	1333					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GGTGATTCCCCCATTATGGAA	0.373													54	5					0	0	0.048971	0	0	T	5605958	C	T	5605958	3	4	66	1	0	0	0	0	1	0	0	0	11509	623	22	3	4074	3	PCDH11Y	24	5605958	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08		5605958	53767608	40	2831											
FUBP1	8880	broad.mit.edu	37	chr1	78433848	78433851	+	Splice_Site	DEL	CAGT	CAGT	-																															cagtttaaaaggaatacttaCagtcattttgaggagcaact																										TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr1:78433848_78433851delCAGT	uc001dii.3	-	3	339	c.250_splice	c.e3+1	p.S84_splice	FUBP1_uc001dih.4_Splice_Site|FUBP1_uc010orm.2_Splice_Site_p.S105_splice	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	84					transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	p.?(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GGAATACTTACAGTCATTTTGAGG	0.319			"F, N"		oligodendroglioma								20	11	---	---	---	---						-	78433851	CAGT	-	78433848	8	5	67	1	0	1	0	1	0	0	1	0	6092	492	17	0	1755	0	FUBP1	1	78433848	Splice_Site	DEL	CAGT	TCGA-DU-6394-01A-11D-1705-08		78433848	170816773	1	2832											
ITLN1	55600	broad.mit.edu	37	chr1	160850421	160850421	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgctgttttctgggcgtcGccaaaatcatagaccacagg	10	10	11	10	2	2	1	1	0	1	1	3	2	2	1	2	2	1	2	2	2	3	3			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr1:160850421G>A	uc001fxc.3	-	5	758	c.642C>T	c.(640-642)ggC>ggT	p.G214G		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	Homo sapiens intelectin 1 (galactofuranose binding) (ITLN1), mRNA.	214	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TCTGGGCGTCGCCAAAATCAT	0.443													7	261					0	0	1	0	0	A	160850421	G	A	160850421	2	1	67	1	0	0	0	0	0	0	0	1	7910	1074	38	1		1	ITLN1	1	160850421	Silent	SNP	G	TCGA-DU-6394-01A-11D-1705-08	82416573	160850421	88400200	2	2833											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								22	51					0	0	1	0	0	T	209113112	C	T	209113112	3	4	67	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-6394-01A-11D-1705-08		209113112	34086261	3	2834											
HGD	3081	broad.mit.edu	37	chr3	120357338	120357338	+	Frame_Shift_Del	DEL	C	C	-																															cctgaaggtcttatcagcaaCcccccatcgaggtgggaaga																										TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr3:120357338delC	uc003edw.3	-	11	1430	c.970delG	c.(970-972)gttfs	p.V324fs	HGD_uc003edv.3_Frame_Shift_Del_p.V183fs	NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	324					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TTATCAGCAACCCCCCATCGA	0.483													23	94	---	---	---	---						-	120357338	C	-	120357338	7	5	67	1	0	1	0	1	0	0	0	0	7084	507	18	0	379	0	HGD	3	120357338	Frame_Shift_Del	DEL	C	TCGA-DU-6394-01A-11D-1705-08		120357338	77665092	4	2835											
SMC4	10051	broad.mit.edu	37	chr3	160137299	160137299	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caataattcaagaaaaaaaaTctggcaggattccaggaata	20	8	7	6	0	2	1	1	0	1	1	3	3	3	3	1	3	0	1	1	3	9	4			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr3:160137299T>A	uc003fdh.3	+	11	1938	c.1825T>A	c.(1825-1827)Tct>Act	p.S609T	IFT80_uc003fda.3_Intron|SMC4_uc010hwc.1_Missense_Mutation_p.S373T|SMC4_uc003fdi.3_Missense_Mutation_p.S584T|SMC4_uc003fdj.3_Missense_Mutation_p.S609T|SMC4_uc010hwd.3_Missense_Mutation_p.S609T|SMC4_uc003fdl.3_Missense_Mutation_p.S312T	NM_001002800	NP_005487	Q9NTJ3	SMC4_HUMAN	Homo sapiens structural maintenance of chromosomes 4 (SMC4), transcript variant 2, mRNA.	609	Flexible hinge.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AGAAAAAAAATCTGGCAGGAT	0.343													35	53					0	0	1	0	0	A	160137299	T	A	160137299	3	1	67	1	0	0	0	0	1	0	0	0	14785	1435	50	5	1867	5	SMC4	3	160137299	Missense_Mutation	SNP	T	TCGA-DU-6394-01A-11D-1705-08	39779961	160137299	37885131	5	2836											
TXK	7294	broad.mit.edu	37	chr4	48114404	48114404	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgctctccttaaggctaaAttacagggttctctgggcag	8	13	10	10	0	3	0	0	0	3	0	5	0	3	0	1	3	2	4	1	3	4	4			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr4:48114404A>G	uc003gxx.4	-	3	386	c.300T>C	c.(298-300)aaT>aaC	p.N100N	TXK_uc003gxy.1_Silent_p.N100N	NM_003328	NP_003319	P42681	TXK_HUMAN	Homo sapiens TXK tyrosine kinase (TXK), mRNA.	100	SH3.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TTAAGGCTAAATTACAGGGTT	0.468													26	136					0	0	1	0	0	G	48114404	A	G	48114404	2	3	67	1	0	0	0	0	0	0	0	1	16783	98	4	3		3	TXK	4	48114404	Silent	SNP	A	TCGA-DU-6394-01A-11D-1705-08		48114404	143039872	6	2837											
WDFY3	23001	broad.mit.edu	37	chr4	85731329	85731331	+	In_Frame_Del	DEL	GAA	GAA	-																															caacgtgcagaacacagtgtGaagaagttcaaacacttgat																										TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr4:85731329_85731331delGAA	uc003hpd.3	-	13	2462_2464	c.2054_2056delTTC	c.(2053-2058)cttcac>cac	p.L685del	WDFY3_uc003hpf.3_In_Frame_Del_p.L685del	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	685						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AACACAGTGTGAAGAAGTTCAAA	0.448													28	51	---	---	---	---						-	85731331	GAA	-	85731329	7	5	67	1	0	1	0	1	0	0	0	0	17267	1290	45	0	8787	0	WDFY3	4	85731329	In_Frame_Del	DEL	GAA	TCGA-DU-6394-01A-11D-1705-08	37616925	85731329	105422947	7	2838											
NPY1R	4886	broad.mit.edu	37	chr4	164247119	164247119	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaaattgatcaaagcacacGtatttgtctttgtacgcatc	12	13	8	8	2	2	1	1	1	1	0	3	2	2	2	0	1	2	4	0	1	4	5			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr4:164247119G>A	uc003iqm.2	-	1	1053	c.588C>T	c.(586-588)taC>taT	p.Y196Y	NPY1R_uc021xtv.1_Silent_p.Y196Y|NPY1R_uc011cjj.2_Intron	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	196					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CAAAGCACACGTATTTGTCTT	0.408													35	35					0	0	1	0	0	A	164247119	G	A	164247119	2	1	67	1	0	0	0	0	0	0	0	1	10608	1140	40	1		1	NPY1R	4	164247119	Silent	SNP	G	TCGA-DU-6394-01A-11D-1705-08	78515790	164247119	26907157	8	2839											
FAM149A	25854	broad.mit.edu	37	chr4	187084676	187084678	+	In_Frame_Del	DEL	CTT	CTT	-																															agacactcatggattatcacCttctgcaaagaaaacaccag																										TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr4:187084676_187084678delCTT	uc003iyt.4	+	9	1511_1513	c.932_934delCTT	c.(931-936)ccttct>cct	p.S312del	FAM149A_uc011cla.1_In_Frame_Del_p.S312del|FAM149A_uc010isl.3_In_Frame_Del_p.S312del|FAM149A_uc011clb.2_In_Frame_Del_p.S312del	NM_015398	NP_056213	A5PLN7	F149A_HUMAN	Homo sapiens family with sequence similarity 149, member A (FAM149A), transcript variant 1, mRNA.	603										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		GGATTATCACCTTCTGCAAAGAA	0.532													10	76	---	---	---	---						-	187084678	CTT	-	187084676	7	5	67	1	0	1	0	1	0	0	0	0	5455	681	24	0	958	0	FAM149A	4	187084676	In_Frame_Del	DEL	CTT	TCGA-DU-6394-01A-11D-1705-08	22837557	187084676	4069600	9	2840											
PLEKHG4B	153478	broad.mit.edu	37	chr5	143249	143249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccttccgatgtgcctgcccGgcagccacaccccgagcaag	7	5	11	18	3	0	0	0	0	0	0	1	2	1	0	7	1	4	2	7	1	1	1	rs115149634	byFrequency	TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr5:143249G>A	uc003jak.2	+	1	547	c.497G>A	c.(496-498)cGg>cAg	p.R166Q		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	166					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GTGCCTGCCCGGCAGCCACAC	0.647													18	52					0	0	1	0	0	A	143249	G	A	143249	3	1	67	1	0	0	0	0	1	0	0	0	12072	1116	39	2	503	2	PLEKHG4B	5	143249	Missense_Mutation	SNP	G	TCGA-DU-6394-01A-11D-1705-08		143249	180772011	10	2841											
ZDHHC11	79844	broad.mit.edu	37	chr5	814876	814876	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgttaaacttacgaacttacCcaagtgtagatatactcggg	13	11	8	9	3	0	1	0	0	0	1	1	2	0	1	1	1	5	2	1	1	9	6	rs138424733		TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr5:814876C>G	uc011cma.1	-	11	1565	c.1181_splice	c.e11+1	p.G394_splice	ZDHHC11_uc010itc.3_Splice_Site	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	Homo sapiens zinc finger, DHHC-type containing 11 (ZDHHC11), mRNA.	394						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			ACGAACTTACCCAAGTGTAGA	0.378													25	31					0	0	1	0	0	G	814876	C	G	814876	5	3	67	1	0	0	0	0	0	0	1	0	17598	637	22	5	65	5	ZDHHC11	5	814876	Splice_Site	SNP	C	TCGA-DU-6394-01A-11D-1705-08	671627	814876	180100384	11	2842											
PIK3R1	5295	broad.mit.edu	37	chr5	67591105	67591107	+	In_Frame_Del	DEL	TAA	TAA	-																															gacaaacgtatgaacagcatTaaaccagaccttatccagct																										TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr5:67591105_67591107delTAA	uc003jva.3	+	12	2278_2280	c.1698_1700delTAA	c.(1696-1701)attaaa>ata	p.K567del	PIK3R1_uc003jvc.3_In_Frame_Del_p.K267del|PIK3R1_uc003jvd.3_In_Frame_Del_p.K297del|PIK3R1_uc003jve.3_In_Frame_Del_p.K246del|PIK3R1_uc021xzn.1_In_Frame_Del_p.K204del|PIK3R1_uc011crb.2_In_Frame_Del_p.K237del	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	567					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.K567E(3)|p.K567_L570delKPDL(2)|p.K267_L270delKPDL(1)|p.0?(1)|p.?(1)|p.K297E(1)|p.K267E(1)|p.K297_L300delKPDL(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TGAACAGCATTAAACCAGACCTT	0.369			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			16	108	---	---	---	---						-	67591107	TAA	-	67591105	7	5	67	1	0	1	0	1	0	0	0	0	11918	1742	61	0	1874	0	PIK3R1	5	67591105	In_Frame_Del	DEL	TAA	TCGA-DU-6394-01A-11D-1705-08	66776229	67591105	113324155	12	2843											
MAN2A1	4124	broad.mit.edu	37	chr5	109049430	109049433	+	Frame_Shift_Del	DEL	CTGT	CTGT	-																															ctctcagttgacactgcagaCtgtctgtttgcttcacaaag																										TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr5:109049430_109049433delCTGT	uc003kou.1	+	1	1308_1311	c.345_348delCTGT	c.(343-348)gactgtfs	p.D115fs		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA.	115					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		ACACTGCAGACTGTCTGTTTGCTT	0.407													38	135	---	---	---	---						-	109049433	CTGT	-	109049430	7	5	67	1	0	1	0	1	0	0	0	0	9214	564	20	0	351	0	MAN2A1	5	109049430	Frame_Shift_Del	DEL	CTGT	TCGA-DU-6394-01A-11D-1705-08	41458325	109049430	71865830	13	2844											
DNAH8	1769	broad.mit.edu	37	chr6	38690599	38690599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgggggatggagaaggatgCtgaagatggcgccccttctg	9	7	17	8	2	1	3	0	1	1	2	1	6	1	5	2	5	1	1	2	5	2	1			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr6:38690599C>T	uc021yzh.1	+	1	123	c.14C>T	c.(13-15)gCt>gTt	p.A5V	DNAH8_uc003ooe.2_5'UTR	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAGAAGGATGCTGAAGATGGC	0.532													9	13					0	0	1	0	0	T	38690599	C	T	38690599	3	4	67	1	0	0	0	0	1	0	0	0	4607	812	28	3		3	DNAH8	6	38690599	Missense_Mutation	SNP	C	TCGA-DU-6394-01A-11D-1705-08		38690599	132424468	14	2845											
HDAC2	3066	broad.mit.edu	37	chr6	114277842	114277844	+	In_Frame_Del	DEL	TCT	TCT	-																															gtccatcaaacactggacaaTcttctccaacattaactgtg																										TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr6:114277842_114277844delTCT	uc003pwd.2	-	3	584_586	c.297_299delAGA	c.(295-300)gaagat>gat	p.E99del	HDAC2_uc003pwc.2_In_Frame_Del_p.E69del|HDAC2_uc003pwe.2_In_Frame_Del_p.E69del	NM_001527	NP_001518	Q92769	HDAC2_HUMAN	Homo sapiens histone deacetylase 2 (HDAC2), transcript variant 1, mRNA.	99	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	ESC/E(Z) complex|NuRD complex|Sin3 complex|cytoplasm	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	CACTGGACAATCTTCTCCAACAT	0.35													15	16	---	---	---	---						-	114277844	TCT	-	114277842	7	5	67	1	0	1	0	1	0	0	0	0	7007	1435	50	0	1211	0	HDAC2	6	114277842	In_Frame_Del	DEL	TCT	TCGA-DU-6394-01A-11D-1705-08	75587243	114277842	56837225	15	2846											
THEMIS	387357	broad.mit.edu	37	chr6	128135074	128135074	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgcggattatatcttttcGaactaaaaagaaaaaataaa	20	11	6	4	2	1	1	0	0	1	1	2	4	1	2	0	1	2	0	0	1	11	6			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr6:128135074G>A	uc011ebt.2	-	3	861	c.712C>T	c.(712-714)Cga>Tga	p.R238*	THEMIS_uc010kfa.3_Nonsense_Mutation_p.R141*|THEMIS_uc021zfa.1_Nonsense_Mutation_p.R238*|THEMIS_uc010kfb.3_Nonsense_Mutation_p.R203*	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	238	CABIT 1.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ATATCTTTTCGAACTAAAAAG	0.333													37	53					0	0	1	0	0	A	128135074	G	A	128135074	4	1	67	1	0	0	0	0	0	1	0	0	15857	1066	37	2	1346	2	THEMIS	6	128135074	Nonsense_Mutation	SNP	G	TCGA-DU-6394-01A-11D-1705-08	13857232	128135074	42979993	16	2847											
GTF2IRD1	9569	broad.mit.edu	37	chr7	74016720	74016720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatgtacatggtggactatgCcggcctgaacgtgcagctcc	9	9	12	11	2	0	1	0	1	0	0	1	2	1	2	3	3	5	3	3	3	4	2			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr7:74016720C>T	uc003uaq.3	+	26	3233	c.2840C>T	c.(2839-2841)gCc>gTc	p.A947V	GTF2IRD1_uc010lbq.3_Missense_Mutation_p.A964V|GTF2IRD1_uc003uap.3_Missense_Mutation_p.A932V|GTF2IRD1_uc003uar.1_3'UTR	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.	947						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTGGACTATGCCGGCCTGAAC	0.468													3	80					0	0	1	0	0	T	74016720	C	T	74016720	3	4	67	1	0	0	0	0	1	0	0	0	6868	739	26	3	2942	3	GTF2IRD1	7	74016720	Missense_Mutation	SNP	C	TCGA-DU-6394-01A-11D-1705-08		74016720	85121943	17	2848											
MAPK15	225689	broad.mit.edu	37	chr8	144801230	144801230	+	Frame_Shift_Del	DEL	T	T	-																															ctttggcctggcccgctcccTgggcgacctccccgaggggc																								rs139710965	byFrequency	TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr8:144801230delT	uc003yzj.3	+	5	526	c.485delT	c.(484-486)ctgfs	p.L162fs		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.	162	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCCCGCTCCCTGGGCGACCTC	0.667													2	4	---	---	---	---						-	144801230	T	-	144801230	7	5	67	1	0	1	0	1	0	0	0	0	9277	1580	55	0	507	0	MAPK15	8	144801230	Frame_Shift_Del	DEL	T	TCGA-DU-6394-01A-11D-1705-08		144801230	1562792	18	2849											
ZNF782	158431	broad.mit.edu	37	chr9	99581580	99581580	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaatttattgaaattgtaaGattttccttttgggtgggta	11	18	9	3	0	0	2	0	1	0	1	1	2	1	2	1	2	0	2	1	2	5	10			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr9:99581580G>C	uc004awp.1	-	5	1006	c.725C>G	c.(724-726)tCt>tGt	p.S242C	ZNF782_uc011lup.1_Missense_Mutation_p.S110C	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN	Homo sapiens zinc finger protein 782 (ZNF782), mRNA.	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				GAAATTGTAAGATTTTCCTTT	0.333													7	85					0	0	1	0	0	C	99581580	G	C	99581580	3	2	67	1	0	0	0	0	1	0	0	0	18152	942	33	5	1378	5	ZNF782	9	99581580	Missense_Mutation	SNP	G	TCGA-DU-6394-01A-11D-1705-08		99581580	41631851	19	2850											
OR1J2	26740	broad.mit.edu	37	chr9	125273992	125273992	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaggcccttgggaaactCttcagtagagcaacattttt	13	11	9	8	0	2	2	1	0	1	2	2	3	2	3	1	2	3	2	1	2	4	5			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr9:125273992C>A	uc011lyv.2	+	0	912	c.912C>A	c.(910-912)ctC>ctA	p.L304L	OR1J2_uc004bmj.2_Silent_p.L304L	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA.	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TTGGGAAACTCTTCAGTAGAG	0.383													5	77					0.217242	0.222294	1	1	0	A	125273992	C	A	125273992	2	1	67	1	0	0	0	0	0	0	0	1	10960	900	32	5		5	OR1J2	9	125273992	Silent	SNP	C	TCGA-DU-6394-01A-11D-1705-08	25692412	125273992	15939439	20	2851											
NOTCH1	4851	broad.mit.edu	37	chr9	139391997	139391998	+	Frame_Shift_Del	DEL	AG	AG	-																															cctcccgggcggccagaaacAggggtgtctcctcctggggg																										TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr9:139391997_139391998delAG	uc004chz.3	-	33	6193_6194	c.6193_6194delCT	c.(6193-6195)ctgfs	p.L2065fs		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	2065					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCCAGAAACAGGGGTGTCTCC	0.683			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			17	14	---	---	---	---						-	139391998	AG	-	139391997	7	5	67	1	0	1	0	1	0	0	0	0	10547	188	7	0	1477	0	NOTCH1	9	139391997	Frame_Shift_Del	DEL	AG	TCGA-DU-6394-01A-11D-1705-08	14118005	139391997	1821434	21	2852											
NOTCH1	4851	broad.mit.edu	37	chr9	139395163	139395166	+	Frame_Shift_Del	DEL	GTCT	GTCT	-																															aaggcggtctcgcccgtgcgGtctgtctggttgtgcaggct																										TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr9:139395163_139395166delGTCT	uc004chz.3	-	30	5772_5775	c.5772_5775delAGAC	c.(5770-5775)acagacfs	p.T1924fs		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	1924					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.Q1924*(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGCCCGTGCGGTCTGTCTGGTTGT	0.686			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			41	137	---	---	---	---						-	139395166	GTCT	-	139395163	7	5	67	1	0	1	0	1	0	0	0	0	10547	1252	44	0	1908	0	NOTCH1	9	139395163	Frame_Shift_Del	DEL	GTCT	TCGA-DU-6394-01A-11D-1705-08	3166	139395163	1818268	22	2853											
NOS1	4842	broad.mit.edu	37	chr12	117669890	117669890	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacttgaaggcctggaagatGgtgcagggcgggaggcggag	9	6	20	6	2	0	2	0	1	0	1	0	5	0	5	1	7	2	1	1	7	3	2			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr12:117669890G>A	uc001twn.2	-	22	4095	c.3384C>T	c.(3382-3384)acC>acT	p.T1128T	NOS1_uc021ren.1_Silent_p.T758T|NOS1_uc021reo.1_Silent_p.T758T|NOS1_uc001twm.2_Silent_p.T1094T	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1094	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCTGGAAGATGGTGCAGGGCG	0.592													19	19					0	0	1	0	0	A	117669890	G	A	117669890	2	1	67	1	0	0	0	0	0	0	0	1	10541	1335	47	3		3	NOS1	12	117669890	Silent	SNP	G	TCGA-DU-6394-01A-11D-1705-08		117669890	16182005	23	2854											
NPAS3	64067	broad.mit.edu	37	chr14	34263252	34263252	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggtgaattaccttcttaggTatattttctacttcttttct	7	21	6	7	0	4	1	0	1	4	0	4	1	4	1	1	2	2	1	1	2	6	11			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr14:34263252T>G	uc001wru.3	+	10	1365	c.1301_splice	c.e10+2	p.S434_splice	NPAS3_uc001wrs.3_Splice_Site_p.S421_splice|NPAS3_uc001wrv.3_Splice_Site_p.S404_splice|NPAS3_uc001wrt.3_Splice_Site_p.S402_splice	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CCTTCTTAGGTATATTTTCTA	0.333													25	39					0	0	1	0	0	G	34263252	T	G	34263252	5	3	67	1	0	0	0	0	0	0	1	0	10564	1652	57	5	1396	5	NPAS3	14	34263252	Splice_Site	SNP	T	TCGA-DU-6394-01A-11D-1705-08		34263252	73086288	24	2855											
KIF26A	26153	broad.mit.edu	37	chr14	104643666	104643666	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgcgggctctggggccttCggtgaagctgtctacggcct	3	10	16	12	4	2	1	0	1	2	0	4	1	2	1	2	5	2	2	2	5	2	2			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr14:104643666C>A	uc001yos.4	+	11	4541	c.4541C>A	c.(4540-4542)tCg>tAg	p.S1514*		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	1514					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CTGGGGCCTTCGGTGAAGCTG	0.736													2	4					1	1	1	1	0	A	104643666	C	A	104643666	4	1	67	1	0	0	0	0	0	1	0	0	8294	893	31	5	4587	5	KIF26A	14	104643666	Nonsense_Mutation	SNP	C	TCGA-DU-6394-01A-11D-1705-08	70380414	104643666	2705874	25	2856											
JAG2	3714	broad.mit.edu	37	chr14	105615619	105615619	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggttatagcagcgagcgccGttccggcaggggcttggctc	6	8	16	11	4	0	0	0	0	0	0	2	1	1	0	2	5	3	6	2	5	2	4			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr14:105615619G>A	uc001yqg.3	-	12	2045	c.1641C>T	c.(1639-1641)aaC>aaT	p.N547N	JAG2_uc001yqf.3_5'UTR|JAG2_uc001yqh.3_Silent_p.N509N	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	547	EGF-like 9.				Notch receptor processing|Notch signaling pathway|auditory receptor cell fate commitment|cell communication|cell cycle|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		AGCGAGCGCCGTTCCGGCAGG	0.662													44	70					0	0	1	0	0	A	105615619	G	A	105615619	2	1	67	1	0	0	0	0	0	0	0	1	7935	1136	40	1		1	JAG2	14	105615619	Silent	SNP	G	TCGA-DU-6394-01A-11D-1705-08	971953	105615619	1733921	26	2857											
C16orf48	84080	broad.mit.edu	37	chr16	67700039	67700039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcacgtccccgacgccgCgctggccgcgctccaggatc	6	4	12	19	7	0	0	0	0	0	0	3	2	2	1	5	2	1	3	5	2	0	0			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr16:67700039C>T	uc002etw.1	-	1	498	c.215G>A	c.(214-216)cGc>cAc	p.R72H	C16orf48_uc002etv.1_5'Flank|C16orf86_uc002etx.1_5'Flank|C16orf86_uc002ety.3_5'Flank|C16orf86_uc002etz.3_5'Flank	NM_032140	NP_115516	Q9H0I2	CP048_HUMAN	Homo sapiens chromosome 16 open reading frame 48 (C16orf48), mRNA.	72						microtubule cytoskeleton	protein binding	p.Q71E(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	10		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CCCGACGCCGCGCTGGCCGCG	0.662													8	44					0	0	1	0	0	T	67700039	C	T	67700039	3	4	67	1	0	0	0	0	1	0	0	0	1816	768	27	1	849	1	C16orf48	16	67700039	Missense_Mutation	SNP	C	TCGA-DU-6394-01A-11D-1705-08		67700039	22654714	27	2858											
PHLPP2	23035	broad.mit.edu	37	chr16	71692597	71692599	+	In_Frame_Del	DEL	TGT	TGT	-																															tatttctgggaaaatgctgaTgttgttggagtgtgcaacaa																								rs145938775		TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr16:71692597_71692599delTGT	uc002fax.3	-	12	2111_2113	c.2105_2107delACA	c.(2104-2109)aacatc>atc	p.N702del	PHLPP2_uc002fav.3_Non-coding_Transcript|PHLPP2_uc010cgf.3_In_Frame_Del_p.N635del	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	702						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AAAATGCTGATGTTGTTGGAGTG	0.458													25	135	---	---	---	---						-	71692599	TGT	-	71692597	7	5	67	1	0	1	0	1	0	0	0	0	11855	1464	51	0	1888	0	PHLPP2	16	71692597	In_Frame_Del	DEL	TGT	TCGA-DU-6394-01A-11D-1705-08	3992558	71692597	18662156	28	2859											
NF1	4763	broad.mit.edu	37	chr17	29546036	29546037	+	Frame_Shift_Del	DEL	AG	AG	-																															cttgcagaatccaagaaaacAggggcccgaaacccaaggca																										TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr17:29546036_29546037delAG	uc002hgg.3	+	13	1924_1925	c.1541_1542delAG	c.(1540-1542)cagfs	p.Q514fs	NF1_uc002hge.2_Frame_Shift_Del_p.Q514fs|NF1_uc002hgf.2_Frame_Shift_Del_p.Q514fs|NF1_uc002hgh.3_Frame_Shift_Del_p.Q514fs|NF1_uc010csn.2_Frame_Shift_Del_p.Q374fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	514					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(6)|p.Q514fs*43(4)|p.N510_E547del(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCAAGAAAACAGGGGCCCGAAA	0.426			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			7	13	---	---	---	---						-	29546037	AG	-	29546036	7	5	67	1	0	1	0	1	0	0	0	0	10356	188	7	0	1595	0	NF1	17	29546036	Frame_Shift_Del	DEL	AG	TCGA-DU-6394-01A-11D-1705-08		29546036	51649174	29	2860											
NF1	4763	broad.mit.edu	37	chr17	29553697	29553697	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtcagcaatatgatgtCaacaggtaaatgtgaatagt	14	12	9	6	0	3	2	2	2	1	0	3	2	3	2	0	1	2	2	0	1	7	3			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr17:29553697C>A	uc002hgg.3	+	17	2629	c.2246C>A	c.(2245-2247)tCa>tAa	p.S749*	NF1_uc002hgh.3_Nonsense_Mutation_p.S749*|NF1_uc010csn.2_Nonsense_Mutation_p.S609*|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	749					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)|p.S749*(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AATATGATGTCAACAGGTAAA	0.403			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			7	162					0.00198382	0.00212898	1	1	0	A	29553697	C	A	29553697	4	1	67	1	0	0	0	0	0	1	0	0	10356	838	29	5	2377	5	NF1	17	29553697	Nonsense_Mutation	SNP	C	TCGA-DU-6394-01A-11D-1705-08	7661	29553697	51641513	30	2861											
NF1	4763	broad.mit.edu	37	chr17	29652976	29652979	+	Frame_Shift_Del	DEL	TCTC	TCTC	-																															aatcgctttaaaacagacttTctctctaagtggtttgttgt																										TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr17:29652976_29652979delTCTC	uc002hgg.3	+	36	5357_5360	c.4974_4977delTCTC	c.(4972-4977)tttctcfs	p.F1658fs	NF1_uc002hgh.3_Frame_Shift_Del_p.F1637fs|NF1_uc002hgi.1_Frame_Shift_Del_p.F670fs|NF1_uc010cso.3_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1658	CRAL-TRIO.				MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)|p.S1660fs*37(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAACAGACTTTCTCTCTAAGTGGT	0.422			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			11	168	---	---	---	---						-	29652979	TCTC	-	29652976	7	5	67	1	0	1	0	1	0	0	0	0	10356	1780	62	0	5181	0	NF1	17	29652976	Frame_Shift_Del	DEL	TCTC	TCGA-DU-6394-01A-11D-1705-08	99279	29652976	51542234	31	2862											
NF1	4763	broad.mit.edu	37	chr17	29670155	29670155	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttggacaccttttaaaaggTaaaaaagccttatttagaat	16	13	7	5	0	0	1	0	0	0	1	0	2	0	2	2	2	1	2	2	2	8	7			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr17:29670155T>A	uc002hgg.3	+	48	7572	c.7189_splice	c.e48+2	p.G2397_splice	NF1_uc002hgh.3_Splice_Site_p.G2376_splice|NF1_uc010cso.3_Splice_Site_p.G585_splice|NF1_uc010wbt.1_Splice_Site|NF1_uc010wbu.1_Splice_Site	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2397					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTTAAAAGGTAAAAAAGCCT	0.318			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			6	34					0	0	1	0	0	A	29670155	T	A	29670155	5	1	67	1	0	0	0	0	0	0	1	0	10356	1652	57	5	7442	5	NF1	17	29670155	Splice_Site	SNP	T	TCGA-DU-6394-01A-11D-1705-08	17179	29670155	51525055	32	2863											
NT5C	30833	broad.mit.edu	37	chr17	73126675	73126675	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctccttgtcgggggcaggaCcaggtgccgattgtggcagc	5	9	16	11	2	1	0	0	0	1	0	3	2	1	1	3	5	2	2	3	5	0	2			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr17:73126675C>A	uc002jmx.3	-	4	602	c.514G>T	c.(514-516)Gtc>Ttc	p.V172F	NT5C_uc002jmy.3_Non-coding_Transcript|NT5C_uc021ucw.1_Missense_Mutation_p.V132F	NM_014595	NP_055410	Q8TCD5	NT5C_HUMAN	Homo sapiens 5', 3'-nucleotidase, cytosolic (NT5C), transcript variant 1, mRNA.	172					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine deoxyribonucleotide catabolic process|pyrimidine nucleoside catabolic process	cytosol|nucleus	5'-nucleotidase activity|metal ion binding|pyrimidine nucleotide binding					all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			GGGGGCAGGACCAGGTGCCGA	0.607											OREG0024728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	42					9.93527e-08	1.1504e-07	1	1	0	A	73126675	C	A	73126675	3	1	67	1	0	0	0	0	1	0	0	0	10684	507	18	5	95	5	NT5C	17	73126675	Missense_Mutation	SNP	C	TCGA-DU-6394-01A-11D-1705-08	43456520	73126675	8068535	33	2864											
NPTX1	4884	broad.mit.edu	37	chr17	78444660	78444660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccacttggtggcccctcCgtagatctcgatgtgggatt	5	12	13	11	2	1	1	0	0	1	1	4	3	3	2	4	4	0	1	4	4	1	3			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr17:78444660C>T	uc002jyp.1	-	4	1410	c.1252G>A	c.(1252-1254)Gga>Aga	p.G418R		NM_002522	NP_002513	Q15818	NPTX1_HUMAN	Homo sapiens neuronal pentraxin I (NPTX1), mRNA.	418	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding	p.G418G(1)|p.Y417Y(1)		kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			GTGGCCCCTCCGTAGATCTCG	0.662													7	48					0	0	1	0	0	T	78444660	C	T	78444660	3	4	67	1	0	0	0	0	1	0	0	0	10602	661	23	2	50	2	NPTX1	17	78444660	Missense_Mutation	SNP	C	TCGA-DU-6394-01A-11D-1705-08	5317985	78444660	2750550	34	2865											
PLIN4	729359	broad.mit.edu	37	chr19	4510914	4510916	+	In_Frame_Del	DEL	TGG	TGG	-																															ggttccggtcagcactgtctTggtggtgtccaggcccccct																										TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr19:4510914_4510916delTGG	uc002mar.1	-	2	3014_3016	c.3014_3016delCCA	c.(3013-3018)accaag>aag	p.T1005del	PLIN4_uc010dub.1_In_Frame_Del_p.T29del	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	1005						lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						AGCACTGTCTTGGTGGTGTCCAG	0.626													22	28	---	---	---	---						-	4510916	TGG	-	4510914	7	5	67	1	0	1	0	1	0	0	0	0	12092	1821	63	0	1073	0	PLIN4	19	4510914	In_Frame_Del	DEL	TGG	TCGA-DU-6394-01A-11D-1705-08		4510914	54618069	35	2866											
PGLYRP2	114770	broad.mit.edu	37	chr19	15582755	15582755	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtagcgctgcatggagCgcatgttggctgcgcagcgc	5	8	18	10	4	0	0	0	0	0	0	0	1	0	1	0	4	5	7	0	4	1	2			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr19:15582755C>A	uc002nbg.3	-	2	1422	c.1289G>T	c.(1288-1290)cGc>cTc	p.R430L	PGLYRP2_uc002nbf.4_Missense_Mutation_p.R430L	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	430					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CTGCATGGAGCGCATGTTGGC	0.672													3	45					0.150653	0.157827	1	1	0	A	15582755	C	A	15582755	3	1	67	1	0	0	0	0	1	0	0	0	11794	768	27	5	453	5	PGLYRP2	19	15582755	Missense_Mutation	SNP	C	TCGA-DU-6394-01A-11D-1705-08	11071841	15582755	43546228	36	2867											
FKBP8	23770	broad.mit.edu	37	chr19	18650228	18650228	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcagcagtgaccatggcCgtctcccccacgtccatgag	8	7	11	15	2	2	2	1	2	1	0	4	3	3	2	5	1	1	1	5	1	0	0			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr19:18650228C>T	uc002njk.1	-	3	617	c.504G>A	c.(502-504)acG>acA	p.T168T	FKBP8_uc010xqi.1_Silent_p.T197T|FKBP8_uc002njj.1_Silent_p.T168T|FKBP8_uc021uqp.1_Intron	NM_012181	NP_036313	Q14318	FKBP8_HUMAN	Homo sapiens FK506 binding protein 8, 38kDa (FKBP8), mRNA.	168	PPIase FKBP-type.				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						TGACCATGGCCGTCTCCCCCA	0.637													49	48					0	0	1	0	0	T	18650228	C	T	18650228	2	4	67	1	0	0	0	0	0	0	0	1	5914	639	23	2		2	FKBP8	19	18650228	Silent	SNP	C	TCGA-DU-6394-01A-11D-1705-08	3067473	18650228	40478755	37	2868											
IRF2BP1	26145	broad.mit.edu	37	chr19	46387378	46387378	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaggagccgaccagcgggCacttgtctccgctcgggcag	6	5	16	14	5	1	0	0	0	1	0	3	3	1	2	3	4	2	3	3	4	0	1			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr19:46387378C>A	uc002pds.1	-	0	1999	c.1655G>T	c.(1654-1656)tGc>tTc	p.C552F		NM_015649	NP_056464	Q8IU81	I2BP1_HUMAN	Homo sapiens interferon regulatory factor 2 binding protein 1 (IRF2BP1), mRNA.	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		GACCAGCGGGCACTTGTCTCC	0.642													13	4					7.93312e-07	8.95019e-07	1	1	0	A	46387378	C	A	46387378	3	1	67	1	0	0	0	0	1	0	0	0	7829	710	25	5	103	5	IRF2BP1	19	46387378	Missense_Mutation	SNP	C	TCGA-DU-6394-01A-11D-1705-08	27737150	46387378	12741605	38	2869											
PHACTR3	116154	broad.mit.edu	37	chr20	58381107	58381107	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttttaggaacactgccaCggaaatgcaagaaggagctc	13	7	12	9	1	0	1	0	0	0	1	1	4	0	4	1	4	4	3	1	4	5	2			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr20:58381107C>T	uc002yau.3	+	7	1653	c.1186C>T	c.(1186-1188)Cgg>Tgg	p.R396W	PHACTR3_uc002yat.3_Missense_Mutation_p.R393W|PHACTR3_uc010zzw.2_Missense_Mutation_p.R355W|PHACTR3_uc002yav.3_Missense_Mutation_p.R355W|PHACTR3_uc002yaw.3_Missense_Mutation_p.R355W|PHACTR3_uc002yax.3_Missense_Mutation_p.R285W	NM_080672	NP_899067	Q96KR7	PHAR3_HUMAN	Homo sapiens phosphatase and actin regulator 3 (PHACTR3), transcript variant 1, mRNA.	396						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AACACTGCCACGGAAATGCAA	0.547													61	249					0	0	1	0	0	T	58381107	C	T	58381107	3	4	67	1	0	0	0	0	1	0	0	0	11811	527	19	1	1216	1	PHACTR3	20	58381107	Missense_Mutation	SNP	C	TCGA-DU-6394-01A-11D-1705-08		58381107	4644413	39	2870											
KRTAP13-1	140258	broad.mit.edu	37	chr21	31768834	31768834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccttccctgggctatggcGttggattctgccgcccaacc	4	11	10	16	2	1	0	0	0	1	0	3	1	3	1	5	3	2	2	5	3	2	4			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr21:31768834G>A	uc002yoa.3	+	0	443	c.430G>A	c.(430-432)Gtt>Att	p.V144I		NM_181599	NP_853630	Q8IUC0	KR131_HUMAN	Homo sapiens keratin associated protein 13-1 (KRTAP13-1), mRNA.	144						intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGGCTATGGCGTTGGATTCTG	0.542													15	16					0	0	1	0	0	A	31768834	G	A	31768834	3	1	67	1	0	0	0	0	1	0	0	0	8522	1145	40	1	432	1	KRTAP13-1	21	31768834	Missense_Mutation	SNP	G	TCGA-DU-6394-01A-11D-1705-08		31768834	16361061	40	2871											
PWP2	5822	broad.mit.edu	37	chr21	45540355	45540355	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcatccatggacgggaccGtgcgagcctttgaccttcac	7	9	10	15	3	2	1	2	1	0	0	3	4	3	3	5	2	2	0	5	2	0	2			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr21:45540355G>A	uc002zeb.3	+	10	1405	c.1315G>A	c.(1315-1317)Gtg>Atg	p.V439M		NM_005049	NP_005040	Q15269	PWP2_HUMAN	Homo sapiens PWP2 periodic tryptophan protein homolog (yeast) (PWP2), mRNA.	439						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GGACGGGACCGTGCGAGCCTT	0.597													67	80					0	0	1	0	0	A	45540355	G	A	45540355	3	1	67	1	0	0	0	0	1	0	0	0	12844	1145	40	1	1357	1	PWP2	21	45540355	Missense_Mutation	SNP	G	TCGA-DU-6394-01A-11D-1705-08	13771521	45540355	2589540	41	2872											
FRMPD4	9758	broad.mit.edu	37	chrX	12701668	12701668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtccaatcctgtcaaagtaCgcttctctgaggaggtcatc	10	11	9	11	1	3	1	2	1	1	0	7	2	5	2	2	2	1	2	2	2	3	2			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chrX:12701668C>T	uc004cuz.2	+	5	1041	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C	FRMPD4_uc011mij.2_Missense_Mutation_p.R171C	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	179					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGTCAAAGTACGCTTCTCTGA	0.423													24	3					0	0	1	0	0	T	12701668	C	T	12701668	3	4	67	1	0	0	0	0	1	0	0	0	6059	536	19	1	557	1	FRMPD4	23	12701668	Missense_Mutation	SNP	C	TCGA-DU-6394-01A-11D-1705-08		12701668	142568892	42	2873											
BCORL1	63035	broad.mit.edu	37	chrX	129147257	129147259	+	In_Frame_Del	DEL	AGA	AGA	-																															ctctcggcaaggtgttggagAgaagaatactttcattttgg																										TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chrX:129147257_129147259delAGA	uc022cdu.1	+	2	553_555	c.509_511delAGA	c.(508-513)gagaag>gag	p.K171del	BCORL1_uc010nrd.1_In_Frame_Del_p.K73del	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	171					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGTGTTGGAGAGAAGAATACTTT	0.552													9	21	---	---	---	---						-	129147259	AGA	-	129147257	7	5	67	1	0	1	0	1	0	0	0	0	1387	304	11	0	519	0	BCORL1	23	129147257	In_Frame_Del	DEL	AGA	TCGA-DU-6394-01A-11D-1705-08	116445589	129147257	26123303	43	2874											
PRDM2	7799	broad.mit.edu	37	chr1	14143064	14143064	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctggctgctccctgacAggtacgaggcaggatggaac	9	7	13	12	1	1	1	0	1	1	0	2	4	2	3	1	5	3	4	1	5	2	1			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr1:14143064A>G	uc001avi.3	+	9	6036	c.5180_splice	c.e9+1		PRDM2_uc001avg.3_Splice_Site_p.A219_splice|PRDM2_uc009voe.3_Splice_Site|PRDM2_uc009vof.3_Splice_Site	NM_012231	NP_036363	Q13029	PRDM2_HUMAN	Homo sapiens PR domain containing 2, with ZNF domain (PRDM2), transcript variant 1, mRNA.							Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GCTCCCTGACAGGTACGAGGC	0.577													6	27					0	0	0.248553	0	0	G	14143064	A	G	14143064	5	3	68	1	0	0	0	0	0	0	1	0	12458	202	7	4	5226	4	PRDM2	1	14143064	Splice_Site	SNP	A	TCGA-DU-6395-01A-12D-1705-08		14143064	235107557	1	2875											
PDIK1L	149420	broad.mit.edu	37	chr1	26448766	26448766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcaaaagctgacatctttGctctggggattatcatctgg	10	12	10	9	0	4	1	1	1	3	0	4	2	4	2	0	3	3	3	0	3	3	2			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr1:26448766G>A	uc010oew.2	+	2	997	c.724G>A	c.(724-726)Gct>Act	p.A242T	PDIK1L_uc001blj.4_Missense_Mutation_p.A242T|PDIK1L_uc009vsb.3_Missense_Mutation_p.A242T	NM_001243532	NP_001230461	Q8N165	PDK1L_HUMAN	Homo sapiens PDLIM1 interacting kinase 1 like (PDIK1L), transcript variant 2, mRNA.	242	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity			large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		TGACATCTTTGCTCTGGGGAT	0.423													30	63					0	0	0.706142	0	0	A	26448766	G	A	26448766	3	1	68	1	0	0	0	0	1	0	0	0	11673	1319	46	3	730	3	PDIK1L	1	26448766	Missense_Mutation	SNP	G	TCGA-DU-6395-01A-12D-1705-08	12305702	26448766	222801855	2	2876											
CCDC28B	79140	broad.mit.edu	37	chr1	32670247	32670248	+	Frame_Shift_Del	DEL	TG	TG	-																															ctttccaaggaacccgtctaTgtgtgtgtgttcctgagagg																										TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr1:32670247_32670248delTG	uc021okt.1	+	4	706_707	c.574_575delTG	c.(574-576)tgtfs	p.C192fs	CCDC28B_uc001bul.1_Intron|IQCC_uc001bum.2_5'Flank|IQCC_uc009vua.2_5'Flank|IQCC_uc010ogz.1_5'Flank	NM_024296	NP_077272	Q9BUN5	CC28B_HUMAN	Homo sapiens coiled-coil domain containing 28B (CCDC28B), mRNA.	0								p.A192V(1)		large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.5													8	273	---	---	---	---						-	32670248	TG	-	32670247	7	5	68	1	0	1	0	1	0	0	0	0	2803	1479	51	0		0	CCDC28B	1	32670247	Frame_Shift_Del	DEL	TG	TCGA-DU-6395-01A-12D-1705-08	6221481	32670247	216580374	3	2877											
PTBP2	58155	broad.mit.edu	37	chr1	97278639	97278639	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgctaacactgggggcacTgtgaaagcatttaagttttt	10	14	10	7	1	0	1	0	1	0	0	1	1	0	1	0	2	2	4	0	2	3	6			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr1:97278639T>A	uc001drq.3	+	12	1689	c.1443T>A	c.(1441-1443)acT>acA	p.T481T	PTBP2_uc001drn.2_Silent_p.T486T|PTBP2_uc001dro.2_Silent_p.T481T|PTBP2_uc010otz.1_Silent_p.T497T|PTBP2_uc001drp.2_Non-coding_Transcript|PTBP2_uc009wdw.2_Silent_p.T429T|PTBP2_uc001drr.3_Silent_p.T486T|PTBP2_uc001dru.3_Non-coding_Transcript|PTBP2_uc001drs.1_Silent_p.T100T|PTBP2_uc001drt.3_Silent_p.T100T|PTBP2_uc021oqi.1_5'Flank	NM_021190	NP_067013	Q9UKA9	PTBP2_HUMAN	Homo sapiens polypyrimidine tract binding protein 2 (PTBP2), mRNA.	481	RRM 4.						nucleotide binding	p.T481S(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		CTGGGGGCACTGTGAAAGCAT	0.328													3	101					0	0	0.150653	0	0	A	97278639	T	A	97278639	2	1	68	1	0	0	0	0	0	0	0	1	12726	1567	55	5		5	PTBP2	1	97278639	Silent	SNP	T	TCGA-DU-6395-01A-12D-1705-08	64608392	97278639	151971982	4	2878											
COQ10B	80219	broad.mit.edu	37	chr2	198338608	198338608	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtatggtccagaaacaaataTacctcgggagttaatgcttc	13	11	9	8	1	0	1	0	0	0	1	3	2	1	2	2	2	3	3	2	2	6	5			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr2:198338608T>C	uc002uuh.1	+	4	731	c.677T>C	c.(676-678)aTa>aCa	p.I226T	COQ10B_uc010fsl.1_Missense_Mutation_p.I198T	NM_025147	NP_079423	Q9H8M1	CQ10B_HUMAN	Homo sapiens coenzyme Q10 homolog B (S. cerevisiae) (COQ10B), nuclear gene encoding mitochondrial protein, mRNA.	226						mitochondrial inner membrane				endometrium(1)|large_intestine(2)|lung(3)	6			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			GAAACAAATATACCTCGGGAG	0.413													31	42					0	0	0.804634	0	0	C	198338608	T	C	198338608	3	2	68	1	0	0	0	0	1	0	0	0	3744	1406	49	3	695	3	COQ10B	2	198338608	Missense_Mutation	SNP	T	TCGA-DU-6395-01A-12D-1705-08		198338608	44860765	5	2879											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								28	48					0	0	0.750413	0	0	T	209113112	C	T	209113112	3	4	68	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-6395-01A-12D-1705-08	10774504	209113112	34086261	6	2880											
TBC1D9	23158	broad.mit.edu	37	chr4	141543729	141543729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagcaggccccgttgtcccGgggcgaggagtcctccagct	5	6	16	14	3	0	0	0	0	0	0	3	3	3	2	5	5	2	3	5	5	0	1			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr4:141543729G>A	uc010ioj.3	-	20	3693	c.3421C>T	c.(3421-3423)Cgg>Tgg	p.R1141W		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	1141						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CCGTTGTCCCGGGGCGAGGAG	0.637													20	79					0	0	0.608945	0	0	A	141543729	G	A	141543729	3	1	68	1	0	0	0	0	1	0	0	0	15624	1115	39	2	383	2	TBC1D9	4	141543729	Missense_Mutation	SNP	G	TCGA-DU-6395-01A-12D-1705-08		141543729	49610547	7	2881											
DNAH8	1769	broad.mit.edu	37	chr6	38893890	38893890	+	Silent	SNP	T	T	A																															ctctcaattcagaatggcatTattgtgacaaaggccaccag																										TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr6:38893890T>A	uc021yzh.1	+	73	11131	c.11022T>A	c.(11020-11022)atT>atA	p.I3674I	DNAH8_uc003ooe.2_Silent_p.I3457I|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGAATGGCATTATTGTGACAA	0.408													15	116					0	0	0.500413	0	0	A	38893890	T	A	38893890	2	1	68	1	0	0	0	0	0	0	0	1	4607	1742	61	5		5	DNAH8	6	38893890	Silent	SNP	T	TCGA-DU-6395-01A-12D-1705-08		38893890	132221177	8	2882	11	2									
DNAH8	1769	broad.mit.edu	37	chr6	38893891	38893891	+	Missense_Mutation	SNP	A	A	T																															tctcaattcagaatggcattAttgtgacaaaggccaccaga																										TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr6:38893891A>T	uc021yzh.1	+	73	11132	c.11023A>T	c.(11023-11025)Att>Ttt	p.I3675F	DNAH8_uc003ooe.2_Missense_Mutation_p.I3458F|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAATGGCATTATTGTGACAAA	0.413													16	115					0	0	0.520397	0	0	T	38893891	A	T	38893891	3	4	68	1	0	0	0	0	1	0	0	0	4607	449	16	5	10650	5	DNAH8	6	38893891	Missense_Mutation	SNP	A	TCGA-DU-6395-01A-12D-1705-08	1	38893891	132221176	9	2883	11	2									
SHPRH	257218	broad.mit.edu	37	chr6	146215310	146215310	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgtcttaacacgactgatTtgtgcaaattccatgttgtt	11	16	7	7	1	1	1	0	1	1	0	2	2	2	1	1	0	2	3	1	0	3	5			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr6:146215310T>C	uc003qlf.3	-	26	5070	c.4671A>G	c.(4669-4671)caA>caG	p.Q1557Q	SHPRH_uc003qle.3_Silent_p.Q1561Q	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	1557	Helicase C-terminal.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CACGACTGATTTGTGCAAATT	0.313													4	32					0	0	0.184627	0	0	C	146215310	T	C	146215310	2	2	68	1	0	0	0	0	0	0	0	1	14291	1838	64	3		3	SHPRH	6	146215310	Silent	SNP	T	TCGA-DU-6395-01A-12D-1705-08	107321419	146215310	24899757	10	2884											
KIAA1324L	222223	broad.mit.edu	37	chr7	86542420	86542420	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgatgaacccgactgttcaGaaccgagggcacaggcacgg	12	4	13	12	4	1	2	1	1	0	1	1	5	1	2	2	3	2	3	2	3	2	1			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr7:86542420G>C	uc011kha.2	-	13	2017	c.1832C>G	c.(1831-1833)tCt>tGt	p.S611C	KIAA1324L_uc003uie.3_Missense_Mutation_p.S444C|KIAA1324L_uc011kgz.2_Missense_Mutation_p.S497C|KIAA1324L_uc003uif.2_Missense_Mutation_p.S363C	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	611						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CGACTGTTCAGAACCGAGGGC	0.517													11	53					0	0	0.38729	0	0	C	86542420	G	C	86542420	3	2	68	1	0	0	0	0	1	0	0	0	8224	942	33	5	1293	5	KIAA1324L	7	86542420	Missense_Mutation	SNP	G	TCGA-DU-6395-01A-12D-1705-08		86542420	72596243	11	2885											
DLC1	10395	broad.mit.edu	37	chr8	12952306	12952306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtttccgagagtttgttcGtcattagtggctcaggaaga	9	13	13	6	2	2	2	2	0	0	2	4	4	3	3	1	3	0	4	1	3	2	4			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr8:12952306G>A	uc003wwm.2	-	11	3932	c.3488C>T	c.(3487-3489)aCg>aTg	p.T1163M	DLC1_uc003wwk.1_Missense_Mutation_p.T726M|DLC1_uc003wwl.1_Missense_Mutation_p.T760M|DLC1_uc011kxx.1_Missense_Mutation_p.T652M	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	1163	Rho-GAP.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	p.T1163M(2)|p.T1163T(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GAGTTTGTTCGTCATTAGTGG	0.448													31	34					0	0	0.788014	0	0	A	12952306	G	A	12952306	3	1	68	1	0	0	0	0	1	0	0	0	4550	1145	40	1	1126	1	DLC1	8	12952306	Missense_Mutation	SNP	G	TCGA-DU-6395-01A-12D-1705-08		12952306	133411716	12	2886											
TEX15	56154	broad.mit.edu	37	chr8	30702110	30702110	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcagtcatgcttcttttgTaaacagaatcttttgctttt	8	20	5	8	0	4	1	2	0	2	1	4	1	4	1	0	0	3	3	0	0	3	9			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr8:30702110T>C	uc003xil.3	-	0	4424	c.4424A>G	c.(4423-4425)tAc>tGc	p.Y1475C		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1475										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCTTCTTTTGTAAACAGAATC	0.338													39	42					0	0	0.812448	0	0	C	30702110	T	C	30702110	3	2	68	1	0	0	0	0	1	0	0	0	15776	1638	57	3	3961	3	TEX15	8	30702110	Missense_Mutation	SNP	T	TCGA-DU-6395-01A-12D-1705-08	17749804	30702110	115661912	13	2887											
UBR5	51366	broad.mit.edu	37	chr8	103359284	103359284	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgacctaccagaggatccTccaccacttccacccactcc	10	7	5	19	0	0	2	0	1	0	1	4	4	4	3	8	1	1	0	8	1	1	2			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr8:103359284T>C	uc003ykr.2	-	5	878	c.423A>G	c.(421-423)ggA>ggG	p.G141G	UBR5_uc003yks.2_Silent_p.G141G	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	141					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CAGAGGATCCTCCACCACTTC	0.483													72	87					0	0	0.870114	0	0	C	103359284	T	C	103359284	2	2	68	1	0	0	0	0	0	0	0	1	16902	1538	54	4		4	UBR5	8	103359284	Silent	SNP	T	TCGA-DU-6395-01A-12D-1705-08	72657174	103359284	43004738	14	2888											
PPP3R2	5535	broad.mit.edu	37	chr9	104357209	104357209	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcgtttcccattgtggAcatctggcaacggccacggc	6	9	12	14	3	1	0	0	0	1	0	3	1	2	1	3	5	1	2	3	5	1	2			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr9:104357209A>C	uc004bbr.3	-	0	75	c.4T>G	c.(4-6)Tcc>Gcc	p.S2A	GRIN3A_uc004bbp.2_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Non-coding_Transcript	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN	Homo sapiens protein phosphatase 3, regulatory subunit B, beta (PPP3R2), mRNA.	0							calcium ion binding	p.M1I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	CCCATTGTGGACATCTGGCAA	0.607													22	45					0	0	0.639603	0	0	C	104357209	A	C	104357209	3	2	68	1	0	0	0	0	1	0	0	0	12401	275	10	5	521	5	PPP3R2	9	104357209	Missense_Mutation	SNP	A	TCGA-DU-6395-01A-12D-1705-08		104357209	36856222	15	2889											
SCAI	286205	broad.mit.edu	37	chr9	127734030	127734030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgacacttttcccataggCctctgcgcatgcttgacaat	8	13	7	13	1	1	2	0	2	1	0	2	2	2	2	2	1	2	2	2	1	2	5			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr9:127734030C>T	uc004bpd.3	-	16	1684	c.1562G>A	c.(1561-1563)gGc>gAc	p.G521D	SCAI_uc004bpe.3_Missense_Mutation_p.G498D|SCAI_uc010mwu.3_Non-coding_Transcript	NM_173690	NP_775961	Q8N9R8	SCAI_HUMAN	Homo sapiens suppressor of cancer cell invasion (SCAI), transcript variant 1, mRNA.	498					negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TTCCCATAGGCCTCTGCGCAT	0.428													54	92					0	0	0.870114	0	0	T	127734030	C	T	127734030	3	4	68	1	0	0	0	0	1	0	0	0	13869	739	26	3	339	3	SCAI	9	127734030	Missense_Mutation	SNP	C	TCGA-DU-6395-01A-12D-1705-08	23376821	127734030	13479401	16	2890											
MYOF	26509	broad.mit.edu	37	chr10	95148810	95148810	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccagtattcagctcatcatAggggtctgggaatcccgtgt	8	12	11	10	1	4	0	3	0	1	0	6	1	6	1	2	3	1	2	2	3	3	3			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr10:95148810A>G	uc001kin.3	-	17	1681	c.1558T>C	c.(1558-1560)Tat>Cat	p.Y520H	MYOF_uc001kio.3_Missense_Mutation_p.Y507H	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	520					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGCTCATCATAGGGGTCTGGG	0.408													3	134					0	0	0.150653	0	0	G	95148810	A	G	95148810	3	3	68	1	0	0	0	0	1	0	0	0	10089	420	15	4	4775	4	MYOF	10	95148810	Missense_Mutation	SNP	A	TCGA-DU-6395-01A-12D-1705-08		95148810	40385937	17	2891											
FAT3	120114	broad.mit.edu	37	chr11	92085432	92085432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccatttataatgctaccGtgtatgagaactcagcagca	13	12	7	9	1	1	1	1	1	0	1	2	2	2	1	2	0	5	4	2	0	5	6			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr11:92085432G>A	uc001pdj.4	+	0	171	c.154G>A	c.(154-156)Gtg>Atg	p.V52M		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	52	Cadherin 1.				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)				TAATGCTACCGTGTATGAGAA	0.488										TCGA Ovarian(4;0.039)			5	35					0	0	0.184627	0	0	A	92085432	G	A	92085432	3	1	68	1	0	0	0	0	1	0	0	0	5691	1145	40	1	156	1	FAT3	11	92085432	Missense_Mutation	SNP	G	TCGA-DU-6395-01A-12D-1705-08		92085432	42921084	18	2892											
COL2A1	1280	broad.mit.edu	37	chr12	48370602	48370602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtgacactcacaggagggCcgggcagaccctgcagacca	11	3	13	14	1	1	3	1	1	0	2	1	4	1	4	3	3	1	2	3	3	0	0			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr12:48370602C>T	uc001rqu.3	-	47	3609	c.3428G>A	c.(3427-3429)gGc>gAc	p.G1143D	COL2A1_uc001rqt.3_5'Flank|COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.G1074D	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	1143	Triple-helical region.		G -> S (in ACG2).		axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CACAGGAGGGCCGGGCAGACC	0.647													5	9					0	0	0.184627	0	0	T	48370602	C	T	48370602	3	4	68	1	0	0	0	0	1	0	0	0	3687	739	26	3	1063	3	COL2A1	12	48370602	Missense_Mutation	SNP	C	TCGA-DU-6395-01A-12D-1705-08		48370602	85481293	19	2893											
ATP8A2	51761	broad.mit.edu	37	chr13	26125550	26125550	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatcctggtgttgtttggCatcctcttggtcatggcctt	4	16	11	10	0	2	1	1	0	1	1	4	1	4	1	3	4	0	3	3	4	0	4			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr13:26125550C>A	uc001uqk.3	+	10	1108	c.966C>A	c.(964-966)ggC>ggA	p.G322G	ATP8A2_uc010tdi.2_Silent_p.G282G|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc001uql.1_Silent_p.G282G	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	282					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TGTTGTTTGGCATCCTCTTGG	0.483													3	45					0.115264	0.117569	0.115264	1	0	A	26125550	C	A	26125550	2	1	68	1	0	0	0	0	0	0	0	1	1193	697	25	5		5	ATP8A2	13	26125550	Silent	SNP	C	TCGA-DU-6395-01A-12D-1705-08		26125550	89044328	20	2894											
SYNE2	23224	broad.mit.edu	37	chr14	64457244	64457244	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttcaacatgttctcacaaCtgggcttcaggcaaagattc	11	12	7	11	0	3	1	3	0	1	1	5	1	3	1	0	2	2	3	0	2	3	4			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr14:64457244C>G	uc001xgl.3	+	19	2659	c.2429C>G	c.(2428-2430)aCt>aGt	p.T810S	SYNE2_uc001xgm.3_Missense_Mutation_p.T810S|SYNE2_uc021ruh.1_Missense_Mutation_p.T810S	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	810					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GTTCTCACAACTGGGCTTCAG	0.378													28	111					0	0	0.693898	0	0	G	64457244	C	G	64457244	3	3	68	1	0	0	0	0	1	0	0	0	15443	565	20	5	2503	5	SYNE2	14	64457244	Missense_Mutation	SNP	C	TCGA-DU-6395-01A-12D-1705-08		64457244	42892296	21	2895											
FMN1	342184	broad.mit.edu	37	chr15	33359620	33359620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctgcttccctcctctggctCctggccaccatcatcagagt	5	11	8	17	0	3	1	2	0	1	1	6	1	6	1	5	2	1	3	5	2	0	1			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr15:33359620C>T	uc001zhf.4	-	0	466	c.466G>A	c.(466-468)Gag>Aag	p.E156K	FMN1_uc001zhg.2_Missense_Mutation_p.E156K	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	0	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCCTCTGGCTCCTGGCCACCA	0.517													4	69					0	0	0.150653	0	0	T	33359620	C	T	33359620	3	4	68	1	0	0	0	0	1	0	0	0	5949	864	30	3	3192	3	FMN1	15	33359620	Missense_Mutation	SNP	C	TCGA-DU-6395-01A-12D-1705-08		33359620	69171772	22	2896											
CHRNA3	1136	broad.mit.edu	37	chr15	78893607	78893607	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccttacctctttggcttcAttttgtgctttcatattttc	5	22	4	10	0	3	0	2	0	1	0	5	0	4	0	2	1	2	2	2	1	2	9			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr15:78893607A>G	uc002bec.3	-	4	1878	c.1377T>C	c.(1375-1377)aaT>aaC	p.N459N	CHRNA3_uc002beb.3_Silent_p.N459N|CHRNA3_uc002bea.3_Non-coding_Transcript	NM_000743	NP_000734	P32297	ACHA3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 3 (CHRNA3), transcript variant 1, mRNA.	459					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTTTGGCTTCATTTTGTGCTT	0.408													30	97					0	0	0.729181	0	0	G	78893607	A	G	78893607	2	3	68	1	0	0	0	0	0	0	0	1	3384	214	8	3		3	CHRNA3	15	78893607	Silent	SNP	A	TCGA-DU-6395-01A-12D-1705-08	45533987	78893607	23637785	23	2897											
ZNF23	7571	broad.mit.edu	37	chr16	71483441	71483444	+	Frame_Shift_Del	DEL	AATT	AATT	-																															tttgaaaggtctttcctcagAattaattatttcatgcttca																										TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr16:71483441_71483444delAATT	uc002faf.3	-	5	1298_1301	c.484_487delAATT	c.(484-489)aattctfs	p.N162fs	ZNF23_uc002fah.3_Frame_Shift_Del_p.N162fs|ZNF23_uc002fad.3_Frame_Shift_Del_p.N104fs|ZNF23_uc010vmf.2_Frame_Shift_Del_p.N104fs|ZNF23_uc002fag.3_Frame_Shift_Del_p.N104fs|ZNF23_uc002fai.3_Frame_Shift_Del_p.N201fs	NM_145911	NP_666016	P17027	ZNF23_HUMAN	Homo sapiens zinc finger protein 23 (KOX 16) (ZNF23), mRNA.	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S163F(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		CTTTCCTCAGAATTAATTATTTCA	0.402													10	109	---	---	---	---						-	71483444	AATT	-	71483441	7	5	68	1	0	1	0	1	0	0	0	0	17780	246	9	0	1448	0	ZNF23	16	71483441	Frame_Shift_Del	DEL	AATT	TCGA-DU-6395-01A-12D-1705-08		71483441	18871312	24	2898											
NLGN2	57555	broad.mit.edu	37	chr17	7318155	7318155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaccttctgatcctctccCaccattcagaaggtaccagc	10	10	5	16	0	4	2	2	1	2	1	6	2	5	2	5	1	3	1	5	1	3	3			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr17:7318155C>T	uc002ggt.1	+	3	905	c.832C>T	c.(832-834)Cac>Tac	p.H278Y		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	Homo sapiens neuroligin 2 (NLGN2), mRNA.	278					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				GATCCTCTCCCACCATTCAGA	0.612													13	43					0	0	0.411799	0	0	T	7318155	C	T	7318155	3	4	68	1	0	0	0	0	1	0	0	0	10462	594	21	3	846	3	NLGN2	17	7318155	Missense_Mutation	SNP	C	TCGA-DU-6395-01A-12D-1705-08		7318155	73877055	25	2899											
TP53	7157	broad.mit.edu	37	chr17	7578502	7578502	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaatcaacccacagctgcAcagggcaggtcttggccagt	10	7	12	12	0	2	0	1	0	1	0	2	1	2	1	2	4	3	3	2	4	2	1			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr17:7578502A>C	uc002gim.2	-	4	622	c.428T>G	c.(427-429)gTg>gGg	p.V143G	TP53_uc002gig.1_Missense_Mutation_p.V143G|TP53_uc002gih.3_Missense_Mutation_p.V143G|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.V11G|TP53_uc010cnf.1_Missense_Mutation_p.V11G|TP53_uc002gii.1_Missense_Mutation_p.V11G|TP53_uc010cni.1_Missense_Mutation_p.V143G|TP53_uc010cnh.1_Missense_Mutation_p.V143G|TP53_uc002gij.2_Missense_Mutation_p.V143G|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.V50G|TP53_uc002gio.2_Missense_Mutation_p.V11G|TP53_uc010vug.2_Missense_Mutation_p.V104G	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	143	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V143A(33)|p.V143M(17)|p.V143E(10)|p.P142L(8)|p.0?(8)|p.V143L(4)|p.P142H(3)|p.P142P(3)|p.L137_W146del10(2)|p.P142_Q144delPVQ(2)|p.V11A(2)|p.P142F(2)|p.P142A(2)|p.V50A(2)|p.A138_V143delAKTCPV(2)|p.P142T(2)|p.P142S(2)|p.V143V(2)|p.V143fs*27(2)|p.A138_P142delAKTCP(2)|p.V143G(2)|p.P142fs*28(2)|p.V143_S149del(2)|p.V143fs*29(1)|p.K139fs*4(1)|p.C141_P142insXX(1)|p.C141fs*5(1)|p.P142del(1)|p.P142fs*7(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)		CCACAGCTGCACAGGGCAGGT	0.587		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)			21	31					0	0	0.654019	0	0	C	7578502	A	C	7578502	3	2	68	1	0	0	0	0	1	0	0	0	16378	159	6	5	870	5	TP53	17	7578502	Missense_Mutation	SNP	A	TCGA-DU-6395-01A-12D-1705-08	260347	7578502	73616708	26	2900											
TP53	7157	broad.mit.edu	37	chr17	7579362	7579362	+	Missense_Mutation	SNP	A	A	C																															atgcaagaagcccagacggaAaccgtagctgccctggtagg																										TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr17:7579362A>C	uc002gim.2	-	3	519	c.325T>G	c.(325-327)Ttc>Gtc	p.F109V	TP53_uc002gig.1_Missense_Mutation_p.F109V|TP53_uc002gih.3_Missense_Mutation_p.F109V|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Missense_Mutation_p.F109V|TP53_uc010cnh.1_Missense_Mutation_p.F109V|TP53_uc002gij.2_Missense_Mutation_p.F109V|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Missense_Mutation_p.F70V|TP53_uc010cnk.1_Missense_Mutation_p.F124V	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	109	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		F -> C (in sporadic cancers; somatic mutation).|F -> L (in a sporadic cancer; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.G108_F109delGF(4)|p.F109fs*16(4)|p.F109_R110delFR(4)|p.Q100fs*37(3)|p.G59fs*23(3)|p.G108del(2)|p.F109C(2)|p.Y103_G112>C(2)|p.F109S(2)|p.F109V(2)|p.Y103_L111>L(2)|p.G105_T125del21(2)|p.Y107fs*38(1)|p.G108S(1)|p.W91fs*13(1)|p.G108D(1)|p.G108G(1)|p.V73fs*9(1)|p.Y107fs*44(1)|p.S33fs*23(1)|p.G108fs*41(1)|p.F109F(1)|p.P13fs*18(1)|p.G108fs*15(1)|p.F109_R110insXX(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)		CCCAGACGGAAACCGTAGCTG	0.612		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)			23	38					0	0	0.654019	0	0	C	7579362	A	C	7579362	3	2	68	1	0	0	0	0	1	0	0	0	16378	14	1	5	977	5	TP53	17	7579362	Missense_Mutation	SNP	A	TCGA-DU-6395-01A-12D-1705-08	860	7579362	73615848	27	2901	12	2									
TP53	7157	broad.mit.edu	37	chr17	7579363	7579363	+	Silent	SNP	A	A	C																															tgcaagaagcccagacggaaAccgtagctgccctggtaggt																										TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr17:7579363A>C	uc002gim.2	-	3	518	c.324T>G	c.(322-324)ggT>ggG	p.G108G	TP53_uc002gig.1_Silent_p.G108G|TP53_uc002gih.3_Silent_p.G108G|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Silent_p.G108G|TP53_uc010cnh.1_Silent_p.G108G|TP53_uc002gij.2_Silent_p.G108G|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Silent_p.G69G|TP53_uc010cnk.1_Silent_p.G123G	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	108	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		G -> D (in a sporadic cancer; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.Y107*(8)|p.Y107D(5)|p.G108_F109delGF(4)|p.G108del(4)|p.Y107Y(3)|p.Q100fs*37(3)|p.G59fs*23(3)|p.F109fs*16(3)|p.Y107fs*38(2)|p.G108G(2)|p.Y107fs*44(2)|p.Y103_G112>C(2)|p.Y103_L111>L(2)|p.G105_T125del21(2)|p.Y107Q(1)|p.G108S(1)|p.W91fs*13(1)|p.G108D(1)|p.Y107C(1)|p.V73fs*9(1)|p.S33fs*23(1)|p.S106_Y107delSY(1)|p.G108fs*41(1)|p.?_?ins?(1)|p.P13fs*18(1)|p.G108fs*15(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)		CCAGACGGAAACCGTAGCTGC	0.617		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	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)			23	37					0	0	0.654019	0	0	C	7579363	A	C	7579363	2	2	68	1	0	0	0	0	0	0	0	1	16378	30	2	5		5	TP53	17	7579363	Silent	SNP	A	TCGA-DU-6395-01A-12D-1705-08	1	7579363	73615847	28	2902	12	2									
DLGAP1	9229	broad.mit.edu	37	chr18	3879577	3879577	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagggctggccttgcccccGttgacgctgcccttggacgg	3	9	14	15	3	1	1	1	1	0	0	1	2	1	2	4	4	2	3	4	4	0	3			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr18:3879577G>A	uc002kmf.3	-	3	1019	c.492C>T	c.(490-492)aaC>aaT	p.N164N	DLGAP1_uc010wyz.2_Silent_p.N164N|DLGAP1_uc002kmk.2_Silent_p.N164N|LOC201477_uc002kml.1_Intron	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	164					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CCTTGCCCCCGTTGACGCTGC	0.711													33	84					0	0	0.769981	0	0	A	3879577	G	A	3879577	2	1	68	1	0	0	0	0	0	0	0	1	4559	1136	40	1		1	DLGAP1	18	3879577	Silent	SNP	G	TCGA-DU-6395-01A-12D-1705-08		3879577	74197671	29	2903											
PDE4C	5143	broad.mit.edu	37	chr19	18329192	18329192	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtggactgggccacgtcGgcggcatgtaggctgttgtg	4	10	18	9	4	0	0	0	0	0	0	1	1	0	1	1	5	1	4	1	5	1	2	rs149723522		TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr19:18329192G>A	uc010xqc.2	-	9	1662	c.1182C>T	c.(1180-1182)gcC>gcT	p.A394A	PDE4C_uc002nik.4_Silent_p.A394A|PDE4C_uc002nil.4_Silent_p.A394A|PDE4C_uc002nig.4_Intron|PDE4C_uc002nih.4_Silent_p.A164A|PDE4C_uc010ebk.3_Silent_p.A288A|PDE4C_uc002nii.4_Silent_p.A362A|PDE4C_uc002nif.4_Silent_p.A163A|PDE4C_uc010ebl.3_Silent_p.A108A	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	394					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GGGCCACGTCGGCGGCATGTA	0.637													42	75					0	0	0.870114	0	0	A	18329192	G	A	18329192	2	1	68	1	0	0	0	0	0	0	0	1	11641	1103	39	2		2	PDE4C	19	18329192	Silent	SNP	G	TCGA-DU-6395-01A-12D-1705-08		18329192	40799791	30	2904											
PREX1	57580	broad.mit.edu	37	chr20	47248824	47248824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggcggatacctgagtttgCggtaatactgctgaactttc	9	12	11	9	2	0	2	0	2	0	0	1	3	0	3	1	3	5	3	1	3	4	5			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr20:47248824C>T	uc002xtw.1	-	34	4540	c.4517G>A	c.(4516-4518)cGc>cAc	p.R1506H	PREX1_uc002xtv.1_Missense_Mutation_p.R803H	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	1506					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCTGAGTTTGCGGTAATACTG	0.622													4	174					0	0	0.150653	0	0	T	47248824	C	T	47248824	3	4	68	1	0	0	0	0	1	0	0	0	12476	768	27	1	486	1	PREX1	20	47248824	Missense_Mutation	SNP	C	TCGA-DU-6395-01A-12D-1705-08		47248824	15776696	31	2905											
CDH4	1002	broad.mit.edu	37	chr20	60419868	60419868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggaccgggaggagcacGcctcttaccacgtgagtgtc	8	7	13	13	3	1	1	0	1	1	0	2	4	1	4	4	3	2	1	4	3	1	1			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr20:60419868G>A	uc002ybn.2	+	4	809	c.721G>A	c.(721-723)Gcc>Acc	p.A241T	CDH4_uc002ybr.2_Missense_Mutation_p.A204T|CDH4_uc002ybp.2_Missense_Mutation_p.A167T	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	241	Cadherin 1.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGAGGAGCACGCCTCTTACCA	0.672													10	19					0	0	0.38729	0	0	A	60419868	G	A	60419868	3	1	68	1	0	0	0	0	1	0	0	0	3112	1087	38	1	739	1	CDH4	20	60419868	Missense_Mutation	SNP	G	TCGA-DU-6395-01A-12D-1705-08	13171044	60419868	2605652	32	2906											
N6AMT1	29104	broad.mit.edu	37	chr21	30254531	30254531	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgttacagcgtgctgtcTctagggtacaagctgctgcc	6	13	11	11	1	1	0	0	0	1	0	2	0	1	0	1	1	7	5	1	1	4	4			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr21:30254531T>C	uc002ymo.1	-	2	289	c.263A>G	c.(262-264)gAg>gGg	p.E88G	N6AMT1_uc002ymp.1_Missense_Mutation_p.E88G|N6AMT1_uc002ymq.1_Non-coding_Transcript	NM_013240	NP_037372	Q9Y5N5	HEMK2_HUMAN	Homo sapiens N-6 adenine-specific DNA methyltransferase 1 (putative) (N6AMT1), transcript variant 1, mRNA.	88					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						GCGTGCTGTCTCTAGGGTACA	0.358													19	51					0	0	0.608945	0	0	C	30254531	T	C	30254531	3	2	68	1	0	0	0	0	1	0	0	0	10114	1551	54	4	397	4	N6AMT1	21	30254531	Missense_Mutation	SNP	T	TCGA-DU-6395-01A-12D-1705-08		30254531	17875364	33	2907											
C22orf29	79680	broad.mit.edu	37	chr22	19839287	19839287	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagaagagctcgtaatcGtcaggcaggggcaggtcccc	9	6	15	11	2	1	2	1	0	0	2	4	2	2	2	2	5	1	5	2	5	2	1			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr22:19839287G>C	uc002zqg.3	-	1	1097	c.498C>G	c.(496-498)gaC>gaG	p.D166E	GNB1L_uc002zqf.1_Intron|C22orf29_uc002zqh.3_Missense_Mutation_p.D166E|C22orf29_uc002zqi.3_Missense_Mutation_p.D166E|C22orf29_uc021wli.1_Missense_Mutation_p.D166E	NM_024627	NP_078903	Q7L3V2	CV029_HUMAN	Homo sapiens chromosome 22 open reading frame 29 (C22orf29), mRNA.	166										NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					GCTCGTAATCGTCAGGCAGGG	0.597													4	98					0	0	0.217242	0	0	C	19839287	G	C	19839287	3	2	68	1	0	0	0	0	1	0	0	0	2141	1136	40	5	600	5	C22orf29	22	19839287	Missense_Mutation	SNP	G	TCGA-DU-6395-01A-12D-1705-08		19839287	31465279	34	2908											
ATRX	546	broad.mit.edu	37	chrX	76938777	76938777	+	Frame_Shift_Del	DEL	T	T	-																															aagggtgtagtctttacacgTggggatcttcgaagatcaga																										TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chrX:76938777delT	uc004ecp.4	-	8	2203	c.1971delA	c.(1969-1971)ccafs	p.P657fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.P619fs|ATRX_uc004eco.4_Frame_Shift_Del_p.P442fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.P589fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.P628fs|ATRX_uc010nly.1_Frame_Shift_Del_p.P602fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	657					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCTTTACACGTGGGGATCTTC	0.378			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						147	43	---	---	---	---						-	76938777	T	-	76938777	7	5	68	1	0	1	0	1	0	0	0	0	1208	1683	59	0	5615	0	ATRX	23	76938777	Frame_Shift_Del	DEL	T	TCGA-DU-6395-01A-12D-1705-08		76938777	78331783	35	2909											
UBXN10	127733	broad.mit.edu	37	chr1	20517773	20517773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacctcctaccgacactgcaGcattgaaacaatggaggtgc	13	7	9	12	1	0	1	0	1	0	0	1	3	1	2	3	2	6	2	3	2	4	2			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr1:20517773G>A	uc001bdb.3	+	1	803	c.719G>A	c.(718-720)aGc>aAc	p.S240N	UBXN10_uc021oia.1_Missense_Mutation_p.S240N	NM_152376	NP_689589	Q96LJ8	UBX10_HUMAN	Homo sapiens UBX domain protein 10 (UBXN10), mRNA.	240	UBX.									endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						CGACACTGCAGCATTGAAACA	0.502													3	83					0	0	0.115264	0	0	A	20517773	G	A	20517773	3	1	69	1	0	0	0	0	1	0	0	0	16909	971	34	3	721	3	UBXN10	1	20517773	Missense_Mutation	SNP	G	TCGA-DU-6396-01A-11D-1705-08		20517773	228732848	1	2910											
EIF4G3	8672	broad.mit.edu	37	chr1	21181494	21181494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctcacttgcctttgctccaCcactgctgccttttccccag	4	14	5	18	0	1	0	1	0	1	0	4	0	3	0	6	0	4	2	6	0	0	4			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr1:21181494C>T	uc001bec.3	-	20	3498	c.3242G>A	c.(3241-3243)gGt>gAt	p.G1081D	EIF4G3_uc010odi.2_Missense_Mutation_p.G685D|EIF4G3_uc010odj.2_Missense_Mutation_p.G1080D|EIF4G3_uc009vpz.3_Missense_Mutation_p.G801D|EIF4G3_uc001bef.3_Missense_Mutation_p.G1117D|EIF4G3_uc001bee.3_Missense_Mutation_p.G1087D	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	1081					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CTTTGCTCCACCACTGCTGCC	0.473													43	55					0	0	0.870114	0	0	T	21181494	C	T	21181494	3	4	69	1	0	0	0	0	1	0	0	0	5038	507	18	3	1563	3	EIF4G3	1	21181494	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08	663721	21181494	228069127	2	2911											
RYR2	6262	broad.mit.edu	37	chr1	237872331	237872331	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactcctcatcctagatgagTtcaccacactggccagagat	12	9	7	13	0	2	3	2	1	0	2	4	4	4	3	4	1	1	1	4	1	2	2			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr1:237872331T>C	uc001hyl.1	+	68	10195	c.10075T>C	c.(10075-10077)Ttc>Ctc	p.F3359L	RYR2_uc010pxz.1_Missense_Mutation_p.F314L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3359					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCTAGATGAGTTCACCACACT	0.463													8	10					0	0	0.307466	0	0	C	237872331	T	C	237872331	3	2	69	1	0	0	0	0	1	0	0	0	13769	1725	60	3	10349	3	RYR2	1	237872331	Missense_Mutation	SNP	T	TCGA-DU-6396-01A-11D-1705-08	216690837	237872331	11378290	3	2912											
ZNF638	27332	broad.mit.edu	37	chr2	71658529	71658529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gactgaagactcttcttcagGcaaatcagtggcgtctgatg	10	11	11	9	1	5	3	2	2	3	1	5	4	5	3	0	2	0	1	0	2	2	2			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr2:71658529G>A	uc002shx.3	+	25	6046	c.5723G>A	c.(5722-5724)gGc>gAc	p.G1908D	ZNF638_uc002shz.3_Missense_Mutation_p.G1908D|ZNF638_uc002shy.3_Missense_Mutation_p.G1908D|ZNF638_uc002sia.3_Missense_Mutation_p.G1908D|ZNF638_uc002sic.3_Missense_Mutation_p.G1005D|ZNF638_uc002sid.3_Missense_Mutation_p.G277D	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	1908					RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCTTCTTCAGGCAAATCAGTG	0.413													4	33					0	0	0.150653	0	0	A	71658529	G	A	71658529	3	1	69	1	0	0	0	0	1	0	0	0	18052	1203	42	3	5821	3	ZNF638	2	71658529	Missense_Mutation	SNP	G	TCGA-DU-6396-01A-11D-1705-08		71658529	171540844	4	2913											
NCKAP5	344148	broad.mit.edu	37	chr2	133489408	133489408	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacaatggcgctatctgcaGggcgctggccgtctgtggag	7	8	16	10	3	2	0	0	0	2	0	2	2	2	1	1	4	2	3	1	4	3	1			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr2:133489408G>C	uc002ttp.3	-	16	5719	c.5345C>G	c.(5344-5346)cCt>cGt	p.P1782R	NCKAP5_uc002ttq.3_Missense_Mutation_p.P463R	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	1782							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCTATCTGCAGGGCGCTGGCC	0.587													31	49					0	0	0.750413	0	0	C	133489408	G	C	133489408	3	2	69	1	0	0	0	0	1	0	0	0	10223	1000	35	5	400	5	NCKAP5	2	133489408	Missense_Mutation	SNP	G	TCGA-DU-6396-01A-11D-1705-08	61830879	133489408	109709965	5	2914											
THSD7B	80731	broad.mit.edu	37	chr2	138400162	138400162	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgcccagtgaccccctgcTacagctgggtccttggcaac	6	8	10	17	0	0	1	0	1	0	0	1	1	1	1	5	2	5	3	5	2	2	2			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr2:138400162T>C	uc002tva.1	+	19	3814	c.3814T>C	c.(3814-3816)Tac>Cac	p.Y1272H	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GACCCCCTGCTACAGCTGGGT	0.488													28	74					0	0	0.740014	0	0	C	138400162	T	C	138400162	3	2	69	1	0	0	0	0	1	0	0	0	15877	1522	53	4	3894	4	THSD7B	2	138400162	Missense_Mutation	SNP	T	TCGA-DU-6396-01A-11D-1705-08	4910754	138400162	104799211	6	2915											
FASTKD1	79675	broad.mit.edu	37	chr2	170411653	170411653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctaagcagtaattctctaaGtttcgcaaaaaactccttcc	13	12	4	12	1	1	0	0	0	1	0	5	0	3	0	3	0	2	4	3	0	6	6			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr2:170411653G>A	uc002uev.4	-	6	1583	c.1195C>T	c.(1195-1197)Ctt>Ttt	p.L399F	FASTKD1_uc002uew.4_Non-coding_Transcript|FASTKD1_uc002uex.4_Missense_Mutation_p.L385F	NM_024622	NP_078898	Q53R41	FAKD1_HUMAN	Homo sapiens FAST kinase domains 1 (FASTKD1), mRNA.	399					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						AATTCTCTAAGTTTCGCAAAA	0.308													21	23					0	0	0.592651	0	0	A	170411653	G	A	170411653	3	1	69	1	0	0	0	0	1	0	0	0	5685	1029	36	3	1384	3	FASTKD1	2	170411653	Missense_Mutation	SNP	G	TCGA-DU-6396-01A-11D-1705-08	32011491	170411653	72787720	7	2916											
ZNF385B	151126	broad.mit.edu	37	chr2	180634316	180634316	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcactcgtttgcggtgggatTtgccgttggaatgcacctga	6	13	13	9	3	1	1	1	1	0	0	2	3	1	3	2	3	3	3	2	3	1	3			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr2:180634316T>A	uc002unn.4	-	2	771	c.167A>T	c.(166-168)aAa>aTa	p.K56I		NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.	56						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GCGGTGGGATTTGCCGTTGGA	0.567													14	29					0	0	0.457914	0	0	A	180634316	T	A	180634316	3	1	69	1	0	0	0	0	1	0	0	0	17874	1841	64	5	1309	5	ZNF385B	2	180634316	Missense_Mutation	SNP	T	TCGA-DU-6396-01A-11D-1705-08	10222663	180634316	62565057	8	2917											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								21	49					0	0	0.624587	0	0	T	209113112	C	T	209113112	3	4	69	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08	28478796	209113112	34086261	9	2918											
BARD1	580	broad.mit.edu	37	chr2	215610535	215610535	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttctgaagacagcccactgCctataagtacaagaggtcca	13	8	9	11	0	1	3	0	1	1	2	2	3	2	3	3	1	3	2	3	1	5	4			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr2:215610535C>T	uc002veu.2	-	7	1856	c.1721G>A	c.(1720-1722)gGc>gAc	p.G574D	BARD1_uc021vwe.1_Missense_Mutation_p.G555D|BARD1_uc021vwf.1_Missense_Mutation_p.G477D|BARD1_uc021vwg.1_Missense_Mutation_p.G123D|BARD1_uc021vwh.1_Missense_Mutation_p.G104D|BARD1_uc021vwi.1_Intron|BARD1_uc021vwc.1_Intron|BARD1_uc021vwd.1_Missense_Mutation_p.G140D|BARD1_uc010zjm.1_Missense_Mutation_p.G430D	NM_000465	NP_000456	Q99728	BARD1_HUMAN	Homo sapiens BRCA1 associated RING domain 1 (BARD1), mRNA.	574	BRCT 1.				DNA repair|cell cycle arrest|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	RNA binding|kinase binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CAGCCCACTGCCTATAAGTAC	0.393									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				21	151					0	0	0.639603	0	0	T	215610535	C	T	215610535	3	4	69	1	0	0	0	0	1	0	0	0	1312	739	26	3	628	3	BARD1	2	215610535	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08	6497423	215610535	27588838	10	2919											
UGT2B4	7363	broad.mit.edu	37	chr4	70352368	70352368	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccacttgtacagccgagtaTtgagtcctaaagtatctggt	10	13	9	9	1	1	1	0	1	1	0	3	2	3	1	3	1	2	3	3	1	5	6			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr4:70352368T>G	uc003hek.4	-	3	1096	c.1049A>C	c.(1048-1050)aAt>aCt	p.N350T	UGT2B4_uc011cap.2_Missense_Mutation_p.N214T|UGT2B4_uc003hel.4_Missense_Mutation_p.N350T	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	350					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CAGCCGAGTATTGAGTCCTAA	0.343													55	107					0	0	0.870114	0	0	G	70352368	T	G	70352368	3	3	69	1	0	0	0	0	1	0	0	0	16958	1493	52	5	549	5	UGT2B4	4	70352368	Missense_Mutation	SNP	T	TCGA-DU-6396-01A-11D-1705-08		70352368	120801908	11	2920											
ANKRA2	57763	broad.mit.edu	37	chr5	72849256	72849256	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatagcctagggctacagcTagatccatagaattatatcc	13	11	7	10	0	0	2	0	0	0	2	2	2	2	2	3	1	3	2	3	1	9	8			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr5:72849256T>C	uc003kcu.2	-	7	1520	c.861A>G	c.(859-861)ctA>ctG	p.L287L		NM_023039	NP_075526	Q9H9E1	ANRA2_HUMAN	Homo sapiens ankyrin repeat, family A (RFXANK-like), 2 (ANKRA2), mRNA.	287						cytoskeleton|cytosol|membrane	low-density lipoprotein particle binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		GGGCTACAGCTAGATCCATAG	0.363													18	27					0	0	0.592651	0	0	C	72849256	T	C	72849256	2	2	69	1	0	0	0	0	0	0	0	1	636	1509	53	4		4	ANKRA2	5	72849256	Silent	SNP	T	TCGA-DU-6396-01A-11D-1705-08		72849256	108066004	12	2921											
AGXT2L2	85007	broad.mit.edu	37	chr5	177649360	177649360	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagagccatcactcaccgtgTtgaagtactcaacgccggtg	10	9	10	12	3	3	2	3	1	0	1	3	2	3	2	3	1	3	2	3	1	4	3			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr5:177649360T>C	uc003miz.3	-	7	1175	c.923A>G	c.(922-924)aAc>aGc	p.N308S	AGXT2L2_uc003miy.3_Missense_Mutation_p.N33S|AGXT2L2_uc003mjc.3_Missense_Mutation_p.N267S|AGXT2L2_uc003mjb.3_Missense_Mutation_p.N33S|AGXT2L2_uc003mja.3_Non-coding_Transcript|AGXT2L2_uc003mjd.1_Missense_Mutation_p.N166S	NM_153373	NP_699204	Q8IUZ5	AT2L2_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 2 (AGXT2L2), mRNA.	308						mitochondrion	pyridoxal phosphate binding|transaminase activity			breast(1)|endometrium(2)|large_intestine(1)|pancreas(1)|prostate(1)	6	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	ACTCACCGTGTTGAAGTACTC	0.587													3	35					0	0	0.115264	0	0	C	177649360	T	C	177649360	3	2	69	1	0	0	0	0	1	0	0	0	407	1725	60	3	449	3	AGXT2L2	5	177649360	Missense_Mutation	SNP	T	TCGA-DU-6396-01A-11D-1705-08	104800104	177649360	3265900	13	2922											
SCGN	10590	broad.mit.edu	37	chr6	25682193	25682193	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagatgaagatttttgaCagaaataaagatggtcggtt	14	14	10	3	1	1	6	1	2	0	4	2	6	1	6	0	2	0	1	0	2	4	5			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr6:25682193C>G	uc003nfb.3	+	6	689	c.486C>G	c.(484-486)gaC>gaG	p.D162E	SCGN_uc010jpz.3_Intron	NM_006998	NP_008929	O76038	SEGN_HUMAN	Homo sapiens secretagogin, EF-hand calcium binding protein (SCGN), mRNA.	162	EF-hand 4.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						AGATTTTTGACAGAAATAAAG	0.353													16	34					0	0	0.539581	0	0	G	25682193	C	G	25682193	3	3	69	1	0	0	0	0	1	0	0	0	13903	477	17	5	512	5	SCGN	6	25682193	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08		25682193	145432874	14	2923											
HLA-DOA	3111	broad.mit.edu	37	chr6	32975239	32975239	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctgggccactccctcagtGacagtttggccgttgcgcag	5	10	13	13	2	2	1	1	1	1	0	3	1	3	1	3	2	1	3	3	2	0	2			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr6:32975239G>C	uc003ocr.3	-	2	538	c.462C>G	c.(460-462)gtC>gtG	p.V154V	HLA-DOA_uc010juj.3_Silent_p.V124V|HLA-DOA_uc010jui.3_Silent_p.V154V	NM_002119	NP_002110	P06340	DOA_HUMAN	Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.	154	Alpha-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	MHC class II protein complex|endosome membrane|integral to membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						CTCCCTCAGTGACAGTTTGGC	0.582													47	86					0	0	0.870114	0	0	C	32975239	G	C	32975239	2	2	69	1	0	0	0	0	0	0	0	1	7200	1277	45	5		5	HLA-DOA	6	32975239	Silent	SNP	G	TCGA-DU-6396-01A-11D-1705-08	7293046	32975239	138139828	15	2924											
TFAP2D	83741	broad.mit.edu	37	chr6	50683278	50683278	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccagatcaaagactcctGccagggcccagcctggggct	9	5	11	16	0	1	2	1	0	0	2	2	2	2	2	5	3	2	1	5	3	1	0			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr6:50683278G>T	uc003paf.3	+	1	1001	c.489G>T	c.(487-489)ctG>ctT	p.L163L	TFAP2D_uc011dwt.2_Non-coding_Transcript	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.	163							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AAAGACTCCTGCCAGGGCCCA	0.632													33	61					3.09479e-21	3.29772e-21	0.827153	1	0	T	50683278	G	T	50683278	2	4	69	1	0	0	0	0	0	0	0	1	15787	1306	46	5		5	TFAP2D	6	50683278	Silent	SNP	G	TCGA-DU-6396-01A-11D-1705-08	17708039	50683278	120431789	16	2925											
MUC17	140453	broad.mit.edu	37	chr7	100679845	100679845	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcaacaactcccgttgaCaacagcacacctgtgaccac	12	8	5	16	1	1	2	1	2	0	0	2	2	2	2	3	0	4	2	3	0	3	2			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr7:100679845C>A	uc003uxp.1	+	2	5201	c.5148C>A	c.(5146-5148)gaC>gaA	p.D1716E	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1716	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTCCCGTTGACAACAGCACAC	0.473													89	117					3.65056e-27	3.95477e-27	0.870114	1	0	A	100679845	C	A	100679845	3	1	69	1	0	0	0	0	1	0	0	0	9974	477	17	5	5158	5	MUC17	7	100679845	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08		100679845	58458818	17	2926											
TAS2R16	50833	broad.mit.edu	37	chr7	122634819	122634819	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaacctctaggcctagcaCtttccctttagaatcctttt	8	14	6	13	0	1	1	0	0	1	1	3	1	3	1	4	2	2	2	4	2	5	7			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr7:122634819C>G	uc003vkl.1	-	0	936	c.870G>C	c.(868-870)aaG>aaC	p.K290N		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	Homo sapiens taste receptor, type 2, member 16 (TAS2R16), mRNA.	290					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGGCCTAGCACTTTCCCTTTA	0.418													4	189					0	0	0.184627	0	0	G	122634819	C	G	122634819	3	3	69	1	0	0	0	0	1	0	0	0	15566	564	20	5	9	5	TAS2R16	7	122634819	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08	21954974	122634819	36503844	18	2927											
EEF1D	1936	broad.mit.edu	37	chr8	144663399	144663399	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactggcccggggcctcacCgccacgcagactctggttct	5	7	11	18	3	3	1	1	0	2	1	3	1	3	1	5	4	0	2	5	4	0	1			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr8:144663399C>T	uc003yyq.2	-	4	1766	c.1537_splice	c.e4+1	p.V513_splice	NAPRT1_uc003yym.4_5'Flank|NAPRT1_uc003yyn.4_5'Flank|NAPRT1_uc011lkh.2_5'Flank|NAPRT1_uc003yyo.4_5'Flank|EEF1D_uc003yyp.2_Splice_Site_p.V439_splice|EEF1D_uc011lki.2_Splice_Site_p.V97_splice|EEF1D_uc003yyv.3_Splice_Site_p.V73_splice|EEF1D_uc003yyu.3_Splice_Site_p.V97_splice|EEF1D_uc011lkk.2_Splice_Site_p.V97_splice|EEF1D_uc003yyt.3_Splice_Site_p.V463_splice|EEF1D_uc003yyr.3_Splice_Site_p.V463_splice|EEF1D_uc003yys.3_Splice_Site_p.V97_splice|EEF1D_uc011lkl.2_Intron	NM_032378	NP_115754	P29692	EF1D_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) (EEF1D), transcript variant 1, mRNA.	97					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGGGCCTCACCGCCACGCAGA	0.692													5	23					0	0	0.184627	0	0	T	144663399	C	T	144663399	5	4	69	1	0	0	0	0	0	0	1	0	4926	666	23	2	576	2	EEF1D	8	144663399	Splice_Site	SNP	C	TCGA-DU-6396-01A-11D-1705-08		144663399	1700623	19	2928											
BMPR1A	657	broad.mit.edu	37	chr10	88679128	88679128	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggcacccaaggaaagccCgcaattgctcatcgagacct	12	7	9	13	2	1	1	1	0	0	1	2	3	1	2	3	2	2	3	3	2	4	2			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr10:88679128C>T	uc001kdy.3	+	9	1616	c.1068C>T	c.(1066-1068)ccC>ccT	p.P356P		NM_004329	NP_004320	P36894	BMR1A_HUMAN	Homo sapiens bone morphogenetic protein receptor, type IA (BMPR1A), mRNA.	356	Protein kinase.				BMP signaling pathway|immune response|positive regulation of SMAD protein import into nucleus|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|SMAD binding|metal ion binding|protein homodimerization activity|transforming growth factor beta receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						AAGGAAAGCCCGCAATTGCTC	0.483			"Mis, N, F"			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2				3	47					0	0	0.115264	0	0	T	88679128	C	T	88679128	2	4	69	1	0	0	0	0	0	0	0	1	1469	639	23	2		2	BMPR1A	10	88679128	Silent	SNP	C	TCGA-DU-6396-01A-11D-1705-08		88679128	46855619	20	2929											
MKI67	4288	broad.mit.edu	37	chr10	129906452	129906452	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggtcttctagagcctgggCcttttccttaggagtctgta	6	14	11	10	0	3	1	0	0	3	1	4	2	4	2	3	3	1	1	3	3	3	6			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr10:129906452C>T	uc001lke.3	-	12	3847	c.3652G>A	c.(3652-3654)Gcc>Acc	p.A1218T	MKI67_uc001lkf.3_Missense_Mutation_p.A858T|MKI67_uc009yav.1_Missense_Mutation_p.A793T|MKI67_uc009yaw.1_Missense_Mutation_p.A368T	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1218	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGAGCCTGGGCCTTTTCCTTA	0.483													19	80					0	0	0.539581	0	0	T	129906452	C	T	129906452	3	4	69	1	0	0	0	0	1	0	0	0	9598	739	26	3	6130	3	MKI67	10	129906452	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08	41227324	129906452	5628295	21	2930											
OR52M1	119772	broad.mit.edu	37	chr11	4567291	4567291	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcattcctccaatcctcAatcccattgtctatgctgtt	7	16	3	15	0	3	0	2	0	1	0	8	0	8	0	5	0	1	2	5	0	3	4			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr11:4567291A>T	uc010qyf.2	+	0	871	c.871A>T	c.(871-873)Aat>Tat	p.N291Y		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCAATCCTCAATCCCATTGT	0.453													27	23					0	0	0.717897	0	0	T	4567291	A	T	4567291	3	4	69	1	0	0	0	0	1	0	0	0	11126	130	5	5	873	5	OR52M1	11	4567291	Missense_Mutation	SNP	A	TCGA-DU-6396-01A-11D-1705-08		4567291	130439225	22	2931											
ARAP1	116985	broad.mit.edu	37	chr11	72396719	72396719	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcctgtgctcagacgttgCgcagaagctgcaggaaggca	9	7	14	11	2	1	2	1	0	0	2	2	3	2	3	1	2	4	7	1	2	2	1			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr11:72396719C>G	uc001osu.3	-	34	4532	c.4343G>C	c.(4342-4344)cGc>cCc	p.R1448P	ARAP1_uc001osv.3_Missense_Mutation_p.R1437P|ARAP1_uc001osr.3_Missense_Mutation_p.R1208P|ARAP1_uc001oss.3_Missense_Mutation_p.R1203P|ARAP1_uc009yth.3_Missense_Mutation_p.R1131P|ARAP1_uc010rre.2_Missense_Mutation_p.R1192P	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	1448					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	Golgi cisterna membrane|cytosol|plasma membrane	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TCAGACGTTGCGCAGAAGCTG	0.607													11	24					0	0	0.38729	0	0	G	72396719	C	G	72396719	3	3	69	1	0	0	0	0	1	0	0	0	838	768	27	5	13	5	ARAP1	11	72396719	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08	67829428	72396719	62609797	23	2932											
FGD6	55785	broad.mit.edu	37	chr12	95531311	95531311	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaatacctcaaattctctaAcaacagcagcaaaacctgga	18	7	4	12	0	2	0	1	0	1	0	3	1	2	1	2	1	6	2	2	1	7	3			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr12:95531311A>G	uc001tdp.4	-	6	3205	c.2981T>C	c.(2980-2982)gTt>gCt	p.V994A	FGD6_uc009zsx.3_Missense_Mutation_p.V127A|FGD6_uc001tdq.1_Missense_Mutation_p.V30A	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	994	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	p.A992_V993insA(1)		breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						AAATTCTCTAACAACAGCAGC	0.328													45	67					0	0	0.870114	0	0	G	95531311	A	G	95531311	3	3	69	1	0	0	0	0	1	0	0	0	5837	43	2	3	1371	3	FGD6	12	95531311	Missense_Mutation	SNP	A	TCGA-DU-6396-01A-11D-1705-08		95531311	38320584	24	2933											
CHST11	50515	broad.mit.edu	37	chr12	105151362	105151362	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacctcgtgggcaagtacgaGacactggaagaggattctaa	13	7	13	8	2	1	2	0	0	1	2	2	6	1	4	1	3	1	2	1	3	4	3			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr12:105151362G>C	uc001tkz.3	+	2	1338	c.840G>C	c.(838-840)gaG>gaC	p.E280D	CHST11_uc001tky.3_Missense_Mutation_p.E275D	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 11 (CHST11), transcript variant 1, mRNA.	280					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|chondroitin 4-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GCAAGTACGAGACACTGGAAG	0.532													7	10					0	0	0.335167	0	0	C	105151362	G	C	105151362	3	2	69	1	0	0	0	0	1	0	0	0	3399	933	33	5	850	5	CHST11	12	105151362	Missense_Mutation	SNP	G	TCGA-DU-6396-01A-11D-1705-08	9620051	105151362	28700533	25	2934											
TBX5	6910	broad.mit.edu	37	chr12	114793418	114793418	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggatagagtccttggcacGccatgagagtagaggaactc	11	7	15	8	1	0	3	0	1	0	3	2	6	1	5	2	4	1	2	2	4	3	3			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr12:114793418G>A	uc001tvo.3	-	8	1971	c.1476C>T	c.(1474-1476)ggC>ggT	p.G492G	TBX5_uc001tvp.3_Silent_p.G492G|TBX5_uc001tvq.3_Silent_p.G442G	NM_181486	NP_542448	Q99593	TBX5_HUMAN	Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.	492					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TCCTTGGCACGCCATGAGAGT	0.602													17	18					0	0	0.575678	0	0	A	114793418	G	A	114793418	2	1	69	1	0	0	0	0	0	0	0	1	15658	1074	38	1		1	TBX5	12	114793418	Silent	SNP	G	TCGA-DU-6396-01A-11D-1705-08	9642056	114793418	19058477	26	2935											
WDR66	144406	broad.mit.edu	37	chr12	122399967	122399967	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccagggctgctatcccacCtgcatggtctggtacccacc	7	8	10	16	0	1	0	0	0	1	0	2	1	2	0	5	3	3	4	5	3	2	2			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr12:122399967C>T	uc009zxk.3	+	14	2550	c.2391C>T	c.(2389-2391)acC>acT	p.T797T	WDR66_uc021rfh.1_Silent_p.T797T	NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.	797							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GCTATCCCACCTGCATGGTCT	0.498													18	93					0	0	0.539581	0	0	T	122399967	C	T	122399967	2	4	69	1	0	0	0	0	0	0	0	1	17314	668	24	3		3	WDR66	12	122399967	Silent	SNP	C	TCGA-DU-6396-01A-11D-1705-08	7606549	122399967	11451928	27	2936											
TUBA3C	7278	broad.mit.edu	37	chr13	19751659	19751659	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtaatccactgagagccgcTccatgagcagagatgcgaac	12	6	11	12	3	0	3	0	2	0	2	2	6	2	3	3	0	4	3	3	0	2	1			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr13:19751659T>C	uc009zzj.3	-	3	569	c.464A>G	c.(463-465)gAg>gGg	p.E155G		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	155					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TGAGAGCCGCTCCATGAGCAG	0.587													35	53					0	0	0.788014	0	0	C	19751659	T	C	19751659	3	2	69	1	0	0	0	0	1	0	0	0	16743	1551	54	4	896	4	TUBA3C	13	19751659	Missense_Mutation	SNP	T	TCGA-DU-6396-01A-11D-1705-08		19751659	95418219	28	2937											
MYO5C	55930	broad.mit.edu	37	chr15	52553129	52553129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caacgcttggttaattctctCcacaatgaagtcgaacaggt	12	11	8	10	2	1	1	0	1	1	0	4	2	2	1	1	2	2	2	1	2	5	3			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr15:52553129C>T	uc010bff.3	-	9	1405	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript|MYO5C_uc010ugc.2_3'UTR	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	415	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TTAATTCTCTCCACAATGAAG	0.473													44	62					0	0	0.847076	0	0	T	52553129	C	T	52553129	3	4	69	1	0	0	0	0	1	0	0	0	10080	864	30	3	4113	3	MYO5C	15	52553129	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08		52553129	49978263	29	2938											
ANXA2	302	broad.mit.edu	37	chr15	60653219	60653219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaatcaccgtctccaggtggCcagataaggctgacttcagt	11	9	10	11	1	3	2	2	1	1	1	4	2	3	2	3	3	0	1	3	3	2	2			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr15:60653219C>T	uc002agm.3	-	4	405	c.332G>A	c.(331-333)gGc>gAc	p.G111D	ANXA2_uc002agk.3_Missense_Mutation_p.G93D|ANXA2_uc002agn.3_Missense_Mutation_p.G93D|ANXA2_uc002agl.3_Missense_Mutation_p.G93D|ANXA2_uc010uhd.2_Non-coding_Transcript|ANXA2_uc010bgj.3_Missense_Mutation_p.G93D	NM_001002858	NP_001002858	P07355	ANXA2_HUMAN	Homo sapiens annexin A2 (ANXA2), transcript variant 1, mRNA.	93					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	CTCCAGGTGGCCAGATAAGGC	0.398													3	39					0	0	0.115264	0	0	T	60653219	C	T	60653219	3	4	69	1	0	0	0	0	1	0	0	0	718	739	26	3	777	3	ANXA2	15	60653219	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08	8100090	60653219	41878173	30	2939											
IL16	3603	broad.mit.edu	37	chr15	81598375	81598375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatgccttggccatcctcCgccaagctcgagagcccagg	8	7	11	15	2	0	2	0	1	0	1	3	3	2	2	6	2	3	1	6	2	1	1			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr15:81598375C>T	uc021ssh.1	+	15	3648	c.3547C>T	c.(3547-3549)Cgc>Tgc	p.R1183C	IL16_uc010blq.1_Missense_Mutation_p.R1137C|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Missense_Mutation_p.R1225C|IL16_uc002bgg.3_Missense_Mutation_p.R1183C|IL16_uc002bgi.1_Missense_Mutation_p.R573C|IL16_uc002bgj.3_Missense_Mutation_p.R677C|IL16_uc021ssi.1_Missense_Mutation_p.R482C|IL16_uc002bgl.1_Missense_Mutation_p.R482C|IL16_uc010unq.1_Missense_Mutation_p.R482C	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	1183	Interaction with PPP1R12A, PPP1R12B and PPP1R12C.|PDZ 3.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	p.R1183C(1)|p.R1137C(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GGCCATCCTCCGCCAAGCTCG	0.582													18	108					0	0	0.539581	0	0	T	81598375	C	T	81598375	3	4	69	1	0	0	0	0	1	0	0	0	7633	652	23	2	3609	2	IL16	15	81598375	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08	20945156	81598375	20933017	31	2940											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			23	10					0	0	0.639603	0	0	A	7577121	G	A	7577121	3	1	69	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DU-6396-01A-11D-1705-08		7577121	73618089	32	2941											
SEZ6	124925	broad.mit.edu	37	chr17	27286489	27286489	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgatctccccgctgcacacGgctggaaggcagaggaggcc	8	5	15	13	2	1	2	0	1	1	1	2	4	1	4	3	5	1	4	3	5	1	0			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr17:27286489G>A	uc002hdp.2	-	9	1966	c.1772_splice	c.e9-1	p.A591_splice	SEZ6_uc002hdm.2_Splice_Site|SEZ6_uc010cry.1_Splice_Site_p.A591_splice|SEZ6_uc002hdq.1_Splice_Site_p.A466_splice	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	591	Sushi 2.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CGCTGCACACGGCTGGAAGGC	0.602													15	39					0	0	0.479597	0	0	A	27286489	G	A	27286489	5	1	69	1	0	0	0	0	0	0	1	0	14142	1130	39	2	1260	2	SEZ6	17	27286489	Splice_Site	SNP	G	TCGA-DU-6396-01A-11D-1705-08	19709368	27286489	53908721	33	2942											
DCAKD	79877	broad.mit.edu	37	chr17	43101983	43101983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgtctaggacatggcgggCcatgcgggccttgtctgtca	5	11	15	10	2	3	0	1	0	2	0	3	1	3	1	2	4	1	1	2	4	1	3			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr17:43101983C>T	uc002ihx.2	-	3	770	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	DCAKD_uc010daa.1_Missense_Mutation_p.A172T|DCAKD_uc010dab.1_Missense_Mutation_p.A172T	NM_024819	NP_079095	Q8WVC6	DCAKD_HUMAN	Homo sapiens dephospho-CoA kinase domain containing (DCAKD), transcript variant 1, mRNA.	172	DPCK.				coenzyme A biosynthetic process		ATP binding|dephospho-CoA kinase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				ACATGGCGGGCCATGCGGGCC	0.642													17	32					0	0	0.539581	0	0	T	43101983	C	T	43101983	3	4	69	1	0	0	0	0	1	0	0	0	4279	739	26	3	185	3	DCAKD	17	43101983	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08	15815494	43101983	38093227	34	2943											
KIF2B	84643	broad.mit.edu	37	chr17	51900796	51900796	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggggacagcctggatgtgagGgtccccagcaaaccttgtct	8	8	14	11	0	1	1	0	1	1	0	2	3	2	3	4	4	3	1	4	4	1	1			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr17:51900796G>T	uc002iua.2	+	0	558	c.402G>T	c.(400-402)agG>agT	p.R134S	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	134					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.V133L(2)|p.V133M(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGGATGTGAGGGTCCCCAGCA	0.587													27	38					9.39395e-14	9.84849e-14	0.706142	1	0	T	51900796	G	T	51900796	3	4	69	1	0	0	0	0	1	0	0	0	8298	1223	43	5	404	5	KIF2B	17	51900796	Missense_Mutation	SNP	G	TCGA-DU-6396-01A-11D-1705-08	8798813	51900796	29294414	35	2944											
SLC38A10	124565	broad.mit.edu	37	chr17	79249788	79249788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgctcacacagcagcGtgctcagggcctgcctgcat	6	8	11	16	1	2	0	2	0	0	0	2	0	2	0	3	1	7	5	3	1	0	0			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr17:79249788G>A	uc002jzz.1	-	7	1268	c.893C>T	c.(892-894)aCg>aTg	p.T298M	SLC38A10_uc002jzy.1_Missense_Mutation_p.T216M|SLC38A10_uc002kab.3_Missense_Mutation_p.T298M	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	298					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ACACAGCAGCGTGCTCAGGGC	0.612													17	34					0	0	0.520397	0	0	A	79249788	G	A	79249788	3	1	69	1	0	0	0	0	1	0	0	0	14602	1145	40	1	2780	1	SLC38A10	17	79249788	Missense_Mutation	SNP	G	TCGA-DU-6396-01A-11D-1705-08	27348992	79249788	1945422	36	2945											
KCNG2	26251	broad.mit.edu	37	chr18	77659303	77659303	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcgtgcgctgcgcgtgctCtacgtgatgcgcctggcgcg	2	9	16	14	8	1	1	0	1	1	0	1	1	1	1	1	1	6	2	1	1	1	1			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr18:77659303C>G	uc010xfl.2	+	1	888	c.888C>G	c.(886-888)ctC>ctG	p.L296L		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.	296					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.L296L(2)		breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		TGCGCGTGCTCTACGTGATGC	0.741													3	9					0	0	0.115264	0	0	G	77659303	C	G	77659303	2	3	69	1	0	0	0	0	0	0	0	1	8028	900	32	5		5	KCNG2	18	77659303	Silent	SNP	C	TCGA-DU-6396-01A-11D-1705-08		77659303	417945	37	2946											
CREB3L3	84699	broad.mit.edu	37	chr19	4171094	4171094	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgtctctctaaggtccctCttggagcaactgaagaaact	10	11	8	12	0	3	2	0	1	3	1	5	3	4	3	2	2	3	1	2	2	4	2			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr19:4171094C>G	uc002lzl.3	+	7	1013	c.897C>G	c.(895-897)ctC>ctG	p.L299L	CREB3L3_uc002lzm.3_Silent_p.L289L|CREB3L3_uc010xib.2_Silent_p.L288L|CREB3L3_uc010xic.2_Missense_Mutation_p.L255V	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	299	Leucine-zipper.				response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TAAGGTCCCTCTTGGAGCAAC	0.612													20	32					0	0	0.681144	0	0	G	4171094	C	G	4171094	2	3	69	1	0	0	0	0	0	0	0	1	3858	900	32	5		5	CREB3L3	19	4171094	Silent	SNP	C	TCGA-DU-6396-01A-11D-1705-08		4171094	54957889	38	2947											
LRFN1	57622	broad.mit.edu	37	chr19	39798915	39798915	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcgccatacaccttataGcggatcatgagcagaacgat	12	8	9	12	4	1	2	1	1	0	1	2	4	1	3	3	1	4	1	3	1	4	3			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr19:39798915G>C	uc002okw.2	-	1	1674	c.1674C>G	c.(1672-1674)cgC>cgG	p.R558R		NM_020862	NP_065913	Q9P244	LRFN1_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 1 (LRFN1), mRNA.	558						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			ACACCTTATAGCGGATCATGA	0.657													6	17					0	0	0.248553	0	0	C	39798915	G	C	39798915	2	2	69	1	0	0	0	0	0	0	0	1	8937	958	34	5		5	LRFN1	19	39798915	Silent	SNP	G	TCGA-DU-6396-01A-11D-1705-08	35627821	39798915	19330068	39	2948											
SPTBN4	57731	broad.mit.edu	37	chr19	41063165	41063165	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcataagttcttcagtgaCgcccgagagcttcagggaca	10	10	10	11	2	4	2	3	1	1	1	4	4	4	3	1	1	1	2	1	1	1	5			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr19:41063165C>T	uc002ony.3	+	25	5612	c.5526C>T	c.(5524-5526)gaC>gaT	p.D1842D	SPTBN4_uc002onx.3_Silent_p.D1842D|SPTBN4_uc002onz.3_Silent_p.D1842D|SPTBN4_uc010egx.3_Silent_p.D585D|SPTBN4_uc002ooa.3_Silent_p.D518D	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1842					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCTTCAGTGACGCCCGAGAGC	0.657													19	26					0	0	0.557998	0	0	T	41063165	C	T	41063165	2	4	69	1	0	0	0	0	0	0	0	1	15120	535	19	1		1	SPTBN4	19	41063165	Silent	SNP	C	TCGA-DU-6396-01A-11D-1705-08	1264250	41063165	18065818	40	2949											
LIM2	3982	broad.mit.edu	37	chr19	51885677	51885678	+	Frame_Shift_Ins	INS	-	-	A																															gtgggcttactcacttgaggINSaaaaaaacatgatgccagca																										TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr19:51885677_51885678insA	uc002pwl.2	-	2	489_490	c.445_446insT	c.(445-447)tccfs	p.S149fs	LIM2_uc002pwm.2_Frame_Shift_Ins_p.S107fs	NM_030657	NP_085915	P55344	LMIP_HUMAN	Homo sapiens lens intrinsic membrane protein 2, 19kDa (LIM2), transcript variant 1, mRNA.	107					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		CTCACTTGAGGAAAAAAACATG	0.564													30	29	---	---	---	---						A	51885678	-	A	51885677	7	5	69	1	0	1	1	0	0	0	0	0	8795	1174	41	0	213	0	LIM2	19	51885677	Frame_Shift_Ins	INS	-	TCGA-DU-6396-01A-11D-1705-08	10822512	51885677	7243306	41	2950											
GZF1	64412	broad.mit.edu	37	chr20	23350986	23350986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggtgtcccaggacaccCtcctggccaccaccatcagt	7	7	9	18	1	1	0	1	0	0	0	3	1	3	1	7	3	0	0	7	3	0	0			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr20:23350986C>T	uc010gdb.3	+	6	2218	c.2044C>T	c.(2044-2046)Ctc>Ttc	p.L682F	GZF1_uc002wsy.3_Missense_Mutation_p.L682F|GZF1_uc010zsq.2_Missense_Mutation_p.L206F|GZF1_uc010zsr.2_Missense_Mutation_p.L191F|GZF1_uc002wsz.3_Missense_Mutation_p.L682F	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	Homo sapiens GDNF-inducible zinc finger protein 1 (GZF1), mRNA.	682					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CCAGGACACCCTCCTGGCCAC	0.552													5	52					0	0	0.184627	0	0	T	23350986	C	T	23350986	3	4	69	1	0	0	0	0	1	0	0	0	6914	681	24	3	2062	3	GZF1	20	23350986	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08		23350986	39674534	42	2951											
RTEL1	51750	broad.mit.edu	37	chr20	62324513	62324513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggcttctaccagtttgtgCggccccaccataagcagcag	9	8	10	14	1	1	0	0	0	1	0	1	0	1	0	4	2	4	4	4	2	2	4			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr20:62324513C>T	uc021wge.1	+	28	3039	c.2869C>T	c.(2869-2871)Cgg>Tgg	p.R957W	RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_Missense_Mutation_p.R957W|RTEL1_uc011abd.2_Missense_Mutation_p.R981W|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_Missense_Mutation_p.R734W|RTEL1_uc002yfx.1_Missense_Mutation_p.R202W|TNFRSF6B_uc002yfy.3_5'Flank|TNFRSF6B_uc002yfz.3_5'Flank	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	957					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCAGTTTGTGCGGCCCCACCA	0.597													5	136					0	0	0.184627	0	0	T	62324513	C	T	62324513	3	4	69	1	0	0	0	0	1	0	0	0	13720	759	27	1	2983	1	RTEL1	20	62324513	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08	38973527	62324513	701007	43	2952											
TBX1	6899	broad.mit.edu	37	chr22	19751681	19751681	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accccgtgccgctccaggtaCgccttccacagctcctcctg	5	8	8	20	3	0	0	0	0	0	0	4	0	4	0	8	1	3	3	8	1	1	2			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr22:19751681C>T	uc002zqa.1	+	4	645	c.516C>T	c.(514-516)taC>taT	p.Y172Y	TBX1_uc002zqb.3_Silent_p.Y172Y|TBX1_uc002zqc.3_Silent_p.Y172Y	NM_080647	NP_542378	O43435	TBX1_HUMAN	Homo sapiens T-box 1 (TBX1), transcript variant C, mRNA.	172					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				GCTCCAGGTACGCCTTCCACA	0.667													10	17					0	0	0.361761	0	0	T	19751681	C	T	19751681	2	4	69	1	0	0	0	0	0	0	0	1	15647	547	19	1		1	TBX1	22	19751681	Silent	SNP	C	TCGA-DU-6396-01A-11D-1705-08		19751681	31552885	44	2953											
APOL4	80832	broad.mit.edu	37	chr22	36587386	36587386	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatttataggtacatatcGccaagcaatcaaagggcgtc	15	9	8	9	2	1	0	1	0	0	0	3	0	1	0	1	2	3	2	1	2	8	5			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr22:36587386G>A	uc003aox.3	-	5	1015	c.790C>T	c.(790-792)Cga>Tga	p.R264*	APOL4_uc003aow.3_Nonsense_Mutation_p.R261*|APOL4_uc010gww.3_Nonsense_Mutation_p.R107*	NM_145660	NP_663693	Q9BPW4	APOL4_HUMAN	Homo sapiens apolipoprotein L, 4 (APOL4), transcript variant b, mRNA.	265					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						GGTACATATCGCCAAGCAATC	0.483													20	37					0	0	0.575678	0	0	A	36587386	G	A	36587386	4	1	69	1	0	0	0	0	0	1	0	0	808	1087	38	1	266	1	APOL4	22	36587386	Nonsense_Mutation	SNP	G	TCGA-DU-6396-01A-11D-1705-08	16835705	36587386	14717180	45	2954											
GPR64	10149	broad.mit.edu	37	chrX	19027859	19027859	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacttatagtcgtgtttgaaAagttcagctgtaggccaatg	11	13	11	6	1	1	1	1	1	0	0	2	2	1	1	1	1	1	4	1	1	6	5			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chrX:19027859A>T	uc004cyx.3	-	17	1549	c.1307T>A	c.(1306-1308)tTt>tAt	p.F436Y	GPR64_uc004cze.3_Missense_Mutation_p.F406Y|GPR64_uc004cza.3_Missense_Mutation_p.F414Y|GPR64_uc004czf.3_Missense_Mutation_p.F398Y|GPR64_uc004cyy.3_Missense_Mutation_p.F433Y|GPR64_uc004czc.3_Missense_Mutation_p.F420Y|GPR64_uc004cyz.3_Missense_Mutation_p.F422Y|GPR64_uc004czb.3_Missense_Mutation_p.F436Y|GPR64_uc004czd.3_Missense_Mutation_p.F412Y|GPR64_uc004cyw.3_Missense_Mutation_p.F420Y|GPR64_uc010nfj.3_Missense_Mutation_p.F406Y	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	Homo sapiens G protein-coupled receptor 64 (GPR64), transcript variant 1, mRNA.	436					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CGTGTTTGAAAAGTTCAGCTG	0.398													46	50					0	0	0.870114	0	0	T	19027859	A	T	19027859	3	4	69	1	0	0	0	0	1	0	0	0	6705	14	1	5	1794	5	GPR64	23	19027859	Missense_Mutation	SNP	A	TCGA-DU-6396-01A-11D-1705-08		19027859	136242701	46	2955											
SAT1	6303	broad.mit.edu	37	chrX	23801978	23801978	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcctggttgcagaagtgccGaaagagcactggactccgga	10	7	14	10	2	0	2	0	0	0	2	1	5	1	4	3	3	4	3	3	3	2	1			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chrX:23801978G>A	uc004dau.3	+	2	374	c.180G>A	c.(178-180)ccG>ccA	p.P60P	SAT1_uc010nfv.3_Silent_p.P60P|SAT1_uc004dav.3_Non-coding_Transcript	NM_002970	NP_002961	P21673	SAT1_HUMAN	Homo sapiens spermidine/spermine N1-acetyltransferase 1 (SAT1), transcript variant 1, mRNA.	60	N-acetyltransferase.				angiogenesis|polyamine biosynthetic process	cytosol	diamine N-acetyltransferase activity|protein binding			breast(1)|endometrium(3)|kidney(3)|lung(3)	10					Spermine(DB00127)	CAGAAGTGCCGAAAGAGCACT	0.542													19	29					0	0	0.608945	0	0	A	23801978	G	A	23801978	2	1	69	1	0	0	0	0	0	0	0	1	13851	1045	37	2		2	SAT1	23	23801978	Silent	SNP	G	TCGA-DU-6396-01A-11D-1705-08	4774119	23801978	131468582	47	2956											
POLA1	5422	broad.mit.edu	37	chrX	24735546	24735546	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccaaggcttgggacaaagaGagtgagccagcagaggaagt	14	4	16	7	0	0	3	0	1	0	2	0	6	0	5	2	3	2	2	2	3	3	1			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chrX:24735546G>C	uc004dbl.3	+	8	843	c.828G>C	c.(826-828)gaG>gaC	p.E276D	POLA1_uc004dbm.3_Missense_Mutation_p.E282D	NM_016937	NP_058633	P09884	DPOLA_HUMAN	Homo sapiens polymerase (DNA directed), alpha 1, catalytic subunit (POLA1), mRNA.	276					DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell proliferation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|regulation of transcription involved in G1/S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	GGGACAAAGAGAGTGAGCCAG	0.498													16	24					0	0	0.479597	0	0	C	24735546	G	C	24735546	3	2	69	1	0	0	0	0	1	0	0	0	12187	933	33	5	862	5	POLA1	23	24735546	Missense_Mutation	SNP	G	TCGA-DU-6396-01A-11D-1705-08	933568	24735546	130535014	48	2957											
TRO	7216	broad.mit.edu	37	chrX	54955789	54955789	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcacccacaacgagcacaGtcttcagtagtgcgcttagc	10	8	10	13	2	2	0	1	0	1	0	2	1	2	0	1	0	5	4	1	0	3	3			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chrX:54955789G>A	uc004dtq.3	+	11	2739	c.2632G>A	c.(2632-2634)Gtc>Atc	p.V878I	TRO_uc004dts.3_Intron|TRO_uc004dtr.3_Intron|TRO_uc004dtt.3_Intron|TRO_uc004dtu.3_Intron|TRO_uc004dtv.3_Intron|TRO_uc011mok.2_Missense_Mutation_p.V409I|TRO_uc004dtw.3_Missense_Mutation_p.V481I|TRO_uc004dtx.3_Missense_Mutation_p.V261I	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	Homo sapiens trophinin (TRO), transcript variant 6, mRNA.	878	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AACGAGCACAGTCTTCAGTAG	0.567													24	36					0	0	0.639603	0	0	A	54955789	G	A	54955789	3	1	69	1	0	0	0	0	1	0	0	0	16571	1029	36	3	2674	3	TRO	23	54955789	Missense_Mutation	SNP	G	TCGA-DU-6396-01A-11D-1705-08	30220243	54955789	100314771	49	2958											
ATRX	546	broad.mit.edu	37	chrX	76909629	76909629	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgaaccttaatacgtcGccttttctttttctgtttat	6	22	4	9	2	3	1	0	1	3	0	4	1	3	1	2	0	2	1	2	0	4	10			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chrX:76909629G>A	uc004ecp.4	-	13	4508	c.4276C>T	c.(4276-4278)Cga>Tga	p.R1426*	ATRX_uc004ecq.4_Nonsense_Mutation_p.R1388*|ATRX_uc004eco.4_Nonsense_Mutation_p.R1211*|ATRX_uc004ecr.2_Nonsense_Mutation_p.R1358*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1426					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.R1426*(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTAATACGTCGCCTTTTCTTT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						43	85					0	0	0.870114	0	0	A	76909629	G	A	76909629	4	1	69	1	0	0	0	0	0	1	0	0	1208	1095	38	1	3290	1	ATRX	23	76909629	Nonsense_Mutation	SNP	G	TCGA-DU-6396-01A-11D-1705-08	21953840	76909629	78360931	50	2959											
FUBP1	8880	broad.mit.edu	37	chr1	78444677	78444678	+	Frame_Shift_Del	DEL	AT	AT	-																															gaggggggaggcactgttgaAtagtctgccatggttgcact																										TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:78444677_78444678delAT	uc001dii.3	-	0	100_101	c.11_12delAT	c.(10-12)tatfs	p.Y4fs	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Frame_Shift_Del_p.Y4fs|DNAJB4_uc010orn.2_5'Flank	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	4					transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GCACTGTTGAATAGTCTGCCAT	0.559			"F, N"		oligodendroglioma								10	7	---	---	---	---						-	78444678	AT	-	78444677	7	5	70	1	0	1	0	1	0	0	0	0	6092	108	4	0	2002	0	FUBP1	1	78444677	Frame_Shift_Del	DEL	AT	TCGA-DU-6397-01A-11D-1705-08		78444677	170805944	1	2960											
FLG	2312	broad.mit.edu	37	chr1	152282972	152282972	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcgggatccttgtcttcCtccagtgctgggtgcagtct	4	13	13	11	1	2	0	0	0	2	0	5	1	5	1	3	3	2	2	3	3	0	2			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:152282972C>G	uc001ezu.1	-	2	4426	c.4390G>C	c.(4390-4392)Gga>Cga	p.G1464R	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1464	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTTGTCTTCCTCCAGTGCTG	0.572									Ichthyosis				16	199					0	0	0.028581	0	0	G	152282972	C	G	152282972	3	3	70	1	0	0	0	0	1	0	0	0	5922	690	24	5	7799	5	FLG	1	152282972	Missense_Mutation	SNP	C	TCGA-DU-6397-01A-11D-1705-08	73838295	152282972	96967649	2	2961											
RXRG	6258	broad.mit.edu	37	chr1	165389141	165389141	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacagatggcacagatgtgTttaaccagagatccggggct	11	8	12	10	1	0	3	0	0	0	3	1	4	1	3	3	3	1	3	3	3	1	2			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:165389141T>A	uc001gda.3	-	2	870	c.408A>T	c.(406-408)aaA>aaT	p.K136N	RXRG_uc021pea.1_Missense_Mutation_p.K13N	NM_006917	NP_008848	P48443	RXRG_HUMAN	Homo sapiens retinoid X receptor, gamma (RXRG), transcript variant 1, mRNA.	136	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	CACAGATGTGTTTAACCAGAG	0.537													4	61					0	0	0.009096	0	0	A	165389141	T	A	165389141	3	1	70	1	0	0	0	0	1	0	0	0	13765	1722	60	5	1015	5	RXRG	1	165389141	Missense_Mutation	SNP	T	TCGA-DU-6397-01A-11D-1705-08	13106169	165389141	83861480	3	2962											
ANGPTL1	9068	broad.mit.edu	37	chr1	178820268	178820268	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgagtgtctctcttcagTcaataggcttgatcatcatc	8	14	9	10	1	6	1	4	1	2	0	8	2	6	1	0	2	0	1	0	2	2	3			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:178820268T>G	uc001gma.3	-	5	1948	c.1472A>C	c.(1471-1473)gAc>gCc	p.D491A	RALGPS2_uc001gly.1_Intron|RALGPS2_uc010pnb.2_Intron|RALGPS2_uc001glz.3_Intron|ANGPTL1_uc001gmb.3_Missense_Mutation_p.D491A	NM_004673	NP_004664	O95841	ANGL1_HUMAN	Homo sapiens angiopoietin-like 1 (ANGPTL1), mRNA.	491	Fibrinogen C-terminal.					extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						CTCTCTTCAGTCAATAGGCTT	0.388													3	58					0	0	0.004672	0	0	G	178820268	T	G	178820268	3	3	70	1	0	0	0	0	1	0	0	0	613	1667	58	5	7	5	ANGPTL1	1	178820268	Missense_Mutation	SNP	T	TCGA-DU-6397-01A-11D-1705-08	13431127	178820268	70430353	4	2963											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								34	55					0	0	0.074837	0	0	T	209113112	C	T	209113112	3	4	70	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-6397-01A-11D-1705-08		209113112	34086261	5	2964											
FRMD4B	23150	broad.mit.edu	37	chr3	69230517	69230518	+	Frame_Shift_Del	DEL	TT	TT	-																															aagacggtggctcctgactcTttgagtaaacaccattcctc																										TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:69230517_69230518delTT	uc003dnv.2	-	20	2673_2674	c.2383_2384delAA	c.(2383-2385)aagfs	p.K795fs	FRMD4B_uc003dnw.2_Intron|FRMD4B_uc003dnu.2_Frame_Shift_Del_p.K447fs|FRMD4B_uc011bga.1_Frame_Shift_Del_p.K639fs	NM_015123	NP_055938	Q9Y2L6	FRM4B_HUMAN	Homo sapiens FERM domain containing 4B (FRMD4B), mRNA.	795						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CTCCTGACTCTTTGAGTAAACA	0.446													11	49	---	---	---	---						-	69230518	TT	-	69230517	7	5	70	1	0	1	0	1	0	0	0	0	6052	1609	56	0	732	0	FRMD4B	3	69230517	Frame_Shift_Del	DEL	TT	TCGA-DU-6397-01A-11D-1705-08		69230517	128791913	6	2965											
GXYLT2	727936	broad.mit.edu	37	chr3	73024258	73024258	+	Frame_Shift_Del	DEL	G	G	-																															aattgagaaaacaatgaaaaGggcttatgagaaacacgtca																										TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:73024258delG	uc003dpg.3	+	6	1280	c.1280delG	c.(1279-1281)aggfs	p.R427fs		NM_001080393	NP_001073862	A0PJZ3	GXLT2_HUMAN	Homo sapiens glucoside xylosyltransferase 2 (GXYLT2), mRNA.	427					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						ACAATGAAAAGGGCTTATGAG	0.413													9	88	---	---	---	---						-	73024258	G	-	73024258	7	5	70	1	0	1	0	1	0	0	0	0	6904	1000	35	0	1306	0	GXYLT2	3	73024258	Frame_Shift_Del	DEL	G	TCGA-DU-6397-01A-11D-1705-08	3793741	73024258	124998172	7	2966											
OR5AC2	81050	broad.mit.edu	37	chr3	97806608	97806608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaatggtccatctattaacGcactaatgatatttattttt	12	17	5	7	1	1	1	0	1	1	0	2	1	2	1	1	1	1	2	1	1	6	8			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:97806608G>A	uc011bgs.2	+	0	592	c.592G>A	c.(592-594)Gca>Aca	p.A198T		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A198T(4)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						ATCTATTAACGCACTAATGAT	0.289													24	30					0	0	0.076483	0	0	A	97806608	G	A	97806608	3	1	70	1	0	0	0	0	1	0	0	0	11141	1087	38	1	594	1	OR5AC2	3	97806608	Missense_Mutation	SNP	G	TCGA-DU-6397-01A-11D-1705-08	24782350	97806608	100215822	8	2967											
RETNLB	84666	broad.mit.edu	37	chr3	108475916	108475916	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcagttacctagactgttGagaacatccttgatcttctt	10	15	7	9	0	3	3	1	2	2	2	4	4	4	3	2	0	2	2	2	0	3	6			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:108475916G>T	uc003dxh.2	-	0	215	c.117C>A	c.(115-117)ctC>ctA	p.L39L		NM_032579	NP_115968	Q9BQ08	RETNB_HUMAN	Homo sapiens resistin like beta (RETNLB), mRNA.	39					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						CTAGACTGTTGAGAACATCCT	0.498													4	19					0.00024832	0.000261389	0.009096	1	0	T	108475916	G	T	108475916	2	4	70	1	0	0	0	0	0	0	0	1	13237	1277	45	5		5	RETNLB	3	108475916	Silent	SNP	G	TCGA-DU-6397-01A-11D-1705-08	10669308	108475916	89546514	9	2968											
MRPL3	11222	broad.mit.edu	37	chr3	131190117	131190117	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgacaccttgaaaacctttAccaatactgaacaaaacaaa	20	8	3	10	0	0	3	0	3	0	0	0	3	0	3	3	0	5	0	3	0	9	4			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:131190117A>C	uc011blp.2	-	7	912	c.717T>G	c.(715-717)ggT>ggG	p.G239G	MRPL3_uc011blo.2_Silent_p.G107G|MRPL3_uc003eoh.3_Silent_p.G212G	NM_007208	NP_009139	P09001	RM03_HUMAN	Homo sapiens mitochondrial ribosomal protein L3 (MRPL3), nuclear gene encoding mitochondrial protein, mRNA.	212					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						GAAAACCTTTACCAATACTGA	0.403													3	77					0	0	0.009096	0	0	C	131190117	A	C	131190117	2	2	70	1	0	0	0	0	0	0	0	1	9793	378	14	5		5	MRPL3	3	131190117	Silent	SNP	A	TCGA-DU-6397-01A-11D-1705-08	22714201	131190117	66832313	10	2969											
KIT	3815	broad.mit.edu	37	chr4	55573431	55573431	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgggaagattatcccaagTctgagaatgaaagtaatatc	17	10	9	5	0	1	3	0	2	1	2	3	5	2	4	1	1	0	1	1	1	8	3			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr4:55573431T>A	uc010igr.3	+	5	1180	c.1093T>A	c.(1093-1095)Tct>Act	p.S365T	KIT_uc010igs.3_Missense_Mutation_p.S365T	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	365	Ig-like C2-type 4.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTATCCCAAGTCTGAGAATGA	0.403		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				18	44					0	0	0.062417	0	0	A	55573431	T	A	55573431	3	1	70	1	0	0	0	0	1	0	0	0	8329	1667	58	5	1115	5	KIT	4	55573431	Missense_Mutation	SNP	T	TCGA-DU-6397-01A-11D-1705-08		55573431	135580845	11	2970											
ALPK1	80216	broad.mit.edu	37	chr4	113352721	113352721	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaacagatgcccttgacacCcttctcgcctcataataccc	10	9	5	17	1	2	2	1	1	1	1	3	2	2	2	4	0	3	1	4	0	3	4			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr4:113352721C>A	uc003ian.4	+	10	2245	c.2018C>A	c.(2017-2019)cCc>cAc	p.P673H	ALPK1_uc003iap.4_Missense_Mutation_p.P673H|ALPK1_uc011cfx.2_Missense_Mutation_p.P595H|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Missense_Mutation_p.P501H	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	673							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CCCTTGACACCCTTCTCGCCT	0.493													14	42					3.52763e-06	3.91959e-06	0.0333	1	0	A	113352721	C	A	113352721	3	1	70	1	0	0	0	0	1	0	0	0	544	623	22	5	2052	5	ALPK1	4	113352721	Missense_Mutation	SNP	C	TCGA-DU-6397-01A-11D-1705-08	57779290	113352721	77801555	12	2971											
FSTL5	56884	broad.mit.edu	37	chr4	162577517	162577517	+	Missense_Mutation	SNP	T	T	C																															ctaaattatttagaataataTtgttccttttccagataatg																										TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr4:162577517T>C	uc003iqh.3	-	6	1293	c.857A>G	c.(856-858)aAt>aGt	p.N286S	FSTL5_uc003iqi.3_Missense_Mutation_p.N285S|FSTL5_uc010iqv.3_Missense_Mutation_p.N285S	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	286	Ig-like 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TAGAATAATATTGTTCCTTTT	0.353													13	22					0	0	0.105934	0	0	C	162577517	T	C	162577517	3	2	70	1	0	0	0	0	1	0	0	0	6080	1493	52	3	1726	3	FSTL5	4	162577517	Missense_Mutation	SNP	T	TCGA-DU-6397-01A-11D-1705-08	49224796	162577517	28576759	13	2972	13	2									
FSTL5	56884	broad.mit.edu	37	chr4	162577525	162577525	+	Missense_Mutation	SNP	T	T	A																															tttagaataatattgttcctTttccagataatgggaggtct																								rs61746784		TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr4:162577525T>A	uc003iqh.3	-	6	1285	c.849A>T	c.(847-849)aaA>aaT	p.K283N	FSTL5_uc003iqi.3_Missense_Mutation_p.K282N|FSTL5_uc010iqv.3_Missense_Mutation_p.K282N	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	283	Ig-like 1.					extracellular region	calcium ion binding	p.W282R(1)|p.W282*(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TATTGTTCCTTTTCCAGATAA	0.353													14	27					0	0	0.020292	0	0	A	162577525	T	A	162577525	3	1	70	1	0	0	0	0	1	0	0	0	6080	1838	64	5	1734	5	FSTL5	4	162577525	Missense_Mutation	SNP	T	TCGA-DU-6397-01A-11D-1705-08	8	162577525	28576751	14	2973	13	2									
MCC	4163	broad.mit.edu	37	chr5	112439958	112439958	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcttgtccacctcggccacGgagaggctgcagctgctctt	5	10	12	14	2	1	1	0	0	1	1	3	2	2	1	3	3	4	5	3	3	0	2	rs142794653	byFrequency	TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr5:112439958G>T	uc003kql.4	-	6	1538	c.1122C>A	c.(1120-1122)tcC>tcA	p.S374S	MCC_uc003kqj.4_Silent_p.S184S|MCC_uc003kqk.4_Non-coding_Transcript|MCC_uc011cwb.1_Silent_p.S184S|MCC_uc010jcd.1_Silent_p.S146S	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	184					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CCTCGGCCACGGAGAGGCTGC	0.572													24	101					2.49675e-24	2.85343e-24	0.034045	1	0	T	112439958	G	T	112439958	2	4	70	1	0	0	0	0	0	0	0	1	9373	1103	39	5		5	MCC	5	112439958	Silent	SNP	G	TCGA-DU-6397-01A-11D-1705-08		112439958	68475302	15	2974											
UBLCP1	134510	broad.mit.edu	37	chr5	158697549	158697549	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccattagggaagaaaacctaCtgaaaatttctcgcagagtg	15	9	9	8	1	1	3	0	1	1	2	2	4	1	4	2	1	2	1	2	1	7	3			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr5:158697549C>A	uc003lxq.2	+	4	672	c.346C>A	c.(346-348)Ctg>Atg	p.L116M		NM_145049	NP_659486	Q8WVY7	UBCP1_HUMAN	Homo sapiens ubiquitin-like domain containing CTD phosphatase 1 (UBLCP1), mRNA.	116						nucleus	phosphoprotein phosphatase activity			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAAAACCTACTGAAAATTTC	0.333													9	79					1.12685e-05	1.21822e-05	0.047766	1	0	A	158697549	C	A	158697549	3	1	70	1	0	0	0	0	1	0	0	0	16888	564	20	5	360	5	UBLCP1	5	158697549	Missense_Mutation	SNP	C	TCGA-DU-6397-01A-11D-1705-08	46257591	158697549	22217711	16	2975											
RREB1	6239	broad.mit.edu	37	chr6	7229828	7229828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgccgccccactgcaggCgatcttcaagcacatgcccc	7	6	8	20	2	2	0	1	0	1	0	2	1	2	0	6	1	4	2	6	1	1	1			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr6:7229828C>T	uc003mxb.3	+	9	1988	c.1496C>T	c.(1495-1497)gCg>gTg	p.A499V	RREB1_uc021yky.1_Missense_Mutation_p.A499V|RREB1_uc003mxc.3_Missense_Mutation_p.A499V|RREB1_uc010jnx.3_Missense_Mutation_p.A499V|RREB1_uc021ykz.1_Missense_Mutation_p.A499V|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	499	Pro-rich.				Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCACTGCAGGCGATCTTCAAG	0.642													37	211					0	0	0.039052	0	0	T	7229828	C	T	7229828	3	4	70	1	0	0	0	0	1	0	0	0	13679	768	27	1	1522	1	RREB1	6	7229828	Missense_Mutation	SNP	C	TCGA-DU-6397-01A-11D-1705-08		7229828	163885239	17	2976											
GPR115	221393	broad.mit.edu	37	chr6	47682356	47682356	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaatgtgtggtttatcAtaggctctcactttaacatt	9	16	7	9	0	2	0	2	0	1	0	3	0	2	0	1	2	2	2	1	2	4	6			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr6:47682356A>G	uc003oyz.1	+	6	1546	c.1546A>G	c.(1546-1548)Ata>Gta	p.I516V	GPR115_uc003oza.1_Missense_Mutation_p.I459V|GPR115_uc003ozb.1_Missense_Mutation_p.I459V|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	459					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GTGGTTTATCATAGGCTCTCA	0.458													21	307					0	0	0.062417	0	0	G	47682356	A	G	47682356	3	3	70	1	0	0	0	0	1	0	0	0	6632	217	8	3	1393	3	GPR115	6	47682356	Missense_Mutation	SNP	A	TCGA-DU-6397-01A-11D-1705-08	40452528	47682356	123432711	18	2977											
CNTNAP2	26047	broad.mit.edu	37	chr7	147914572	147914572	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcattctcctctacatcaGctccttcaccacagacttct	8	13	3	17	0	5	1	2	0	3	1	7	1	6	1	3	0	3	2	3	0	1	4			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr7:147914572G>C	uc003weu.2	+	18	3719	c.3203G>C	c.(3202-3204)aGc>aCc	p.S1068T		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1068	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTCTACATCAGCTCCTTCACC	0.557										HNSCC(39;0.1)			5	95					0	0	0.014758	0	0	C	147914572	G	C	147914572	3	2	70	1	0	0	0	0	1	0	0	0	3647	971	34	5	3277	5	CNTNAP2	7	147914572	Missense_Mutation	SNP	G	TCGA-DU-6397-01A-11D-1705-08		147914572	11224091	19	2978											
C8orf47	203111	broad.mit.edu	37	chr8	99101783	99101784	+	Frame_Shift_Ins	INS	-	-	A																															ggaggtcactgagaatccacINSaaactgctgcagagatgaag																										TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr8:99101783_99101784insA	uc003yih.1	+	1	686_687	c.538_539insA	c.(538-540)caafs	p.Q180fs	C8orf47_uc022ayz.1_Intron	NM_173549	NP_775820	Q6P6B1	CH047_HUMAN	Homo sapiens chromosome 8 open reading frame 47 (C8orf47), transcript variant 1, mRNA.	180										kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			TGAGAATCCACAAACTGCTGCA	0.52													10	28	---	---	---	---						A	99101784	-	A	99101783	7	5	70	1	0	1	1	0	0	0	0	0	2432	479	17	0	544	0	C8orf47	8	99101783	Frame_Shift_Ins	INS	-	TCGA-DU-6397-01A-11D-1705-08		99101783	47262239	20	2979											
ATAD2	29028	broad.mit.edu	37	chr8	124368657	124368657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgatcttgcctgcttgaccGtactggagccagaccatcaa	9	10	9	13	1	2	3	1	2	1	1	2	4	2	4	4	1	4	2	4	1	2	3			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr8:124368657G>A	uc003yqh.4	-	12	1726	c.1618C>T	c.(1618-1620)Cgg>Tgg	p.R540W	ATAD2_uc011lii.2_Missense_Mutation_p.R331W|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Missense_Mutation_p.R540W	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	540					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CTGCTTGACCGTACTGGAGCC	0.418													5	45					0	0	0.014758	0	0	A	124368657	G	A	124368657	3	1	70	1	0	0	0	0	1	0	0	0	1071	1144	40	1	2618	1	ATAD2	8	124368657	Missense_Mutation	SNP	G	TCGA-DU-6397-01A-11D-1705-08	25266874	124368657	21995365	21	2980											
RUFY2	55680	broad.mit.edu	37	chr10	70141155	70141155	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctagctcattctctacaTcctgcaatttcaatgtatcc	9	15	4	13	0	3	0	2	0	1	0	6	0	5	0	2	0	4	4	2	0	5	5			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr10:70141155T>C	uc001job.3	-	11	1372	c.1045_splice	c.e11-1	p.D349_splice	RUFY2_uc001jnz.1_Splice_Site|RUFY2_uc001joc.3_Splice_Site_p.D280_splice|RUFY2_uc010qiw.2_Splice_Site_p.D256_splice|RUFY2_uc001jod.1_Splice_Site_p.D314_splice	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN	Homo sapiens RUN and FYVE domain containing 2 (RUFY2), transcript variant 1, mRNA.	363						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						ATTCTCTACATCCTGCAATTT	0.358													76	116					0	0	0.048971	0	0	C	70141155	T	C	70141155	5	2	70	1	0	0	0	0	0	0	1	0	13739	1449	50	3	1024	3	RUFY2	10	70141155	Splice_Site	SNP	T	TCGA-DU-6397-01A-11D-1705-08		70141155	65393592	22	2981											
NOP2	4839	broad.mit.edu	37	chr12	6675419	6675419	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcatcactgccaggtgCtgggcgcttcttgcctcgag	4	12	11	14	2	3	0	2	0	1	0	5	1	4	0	3	2	3	2	3	2	0	3			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr12:6675419C>A	uc021qtw.1	-	4	490	c.310G>T	c.(310-312)Gca>Tca	p.A104S	NOP2_uc009zeq.2_5'Flank|NOP2_uc021qtx.1_Missense_Mutation_p.A104S|NOP2_uc021qty.1_Missense_Mutation_p.A108S|NOP2_uc021qtz.1_Missense_Mutation_p.A108S|NOP2_uc021qua.1_Missense_Mutation_p.A108S	NM_001033714	NP_006161	P46087	NOP2_HUMAN	Homo sapiens NOP2 nucleolar protein homolog (yeast) (NOP2), transcript variant 2, mRNA.	108					positive regulation of cell proliferation|rRNA processing	nucleolus	RNA binding|S-adenosylmethionine-dependent methyltransferase activity|protein binding			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CTGCCAGGTGCTGGGCGCTTC	0.557													4	50					0.00909568	0.0093289	0.009096	1	0	A	6675419	C	A	6675419	3	1	70	1	0	0	0	0	1	0	0	0	10538	797	28	5	2164	5	NOP2	12	6675419	Missense_Mutation	SNP	C	TCGA-DU-6397-01A-11D-1705-08		6675419	127176476	23	2982											
KRT3	3850	broad.mit.edu	37	chr12	53187894	53187896	+	Splice_Site	DEL	CTT	CTT	-																															cactcctgccctgtcactcaCttcttcttgaagtcttccac																										TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr12:53187894_53187896delCTT	uc001say.3	-	2	932	c.866_splice	c.e2+1	p.K289_splice		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	289	Coil 1B.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CTGTCACTCACTTCTTCTTGAAG	0.591													10	123	---	---	---	---						-	53187896	CTT	-	53187894	8	5	70	1	0	1	0	1	0	0	1	0	8466	579	20	0	1051	0	KRT3	12	53187894	Splice_Site	DEL	CTT	TCGA-DU-6397-01A-11D-1705-08	46512475	53187894	80664001	24	2983											
OR4M1	441670	broad.mit.edu	37	chr14	20248557	20248557	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactcgggaggtccaactaGtcctatttgttatatttcta	10	15	8	8	1	1	1	0	0	1	1	4	2	3	2	2	2	1	1	2	2	6	7			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr14:20248557G>T	uc010tku.2	+	0	76	c.76G>T	c.(76-78)Gtc>Ttc	p.V26F		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGTCCAACTAGTCCTATTTGT	0.388													29	276					4.40665e-25	5.18429e-25	0.041601	1	0	T	20248557	G	T	20248557	3	4	70	1	0	0	0	0	1	0	0	0	11075	1029	36	5	78	5	OR4M1	14	20248557	Missense_Mutation	SNP	G	TCGA-DU-6397-01A-11D-1705-08		20248557	87100983	25	2984											
FUT8	2530	broad.mit.edu	37	chr14	66136042	66136042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggctgtcagctccatcatGtggtctactgcttcatgatt	7	15	9	10	0	4	1	3	1	1	0	5	1	5	1	1	2	3	3	1	2	1	3			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr14:66136042G>A	uc001xin.3	+	6	2406	c.679G>A	c.(679-681)Gtg>Atg	p.V227M	FUT8_uc001xio.3_Missense_Mutation_p.V227M|FUT8_uc010tsp.2_Missense_Mutation_p.V64M|FUT8_uc001xir.4_Non-coding_Transcript|FUT8_uc001xip.3_Missense_Mutation_p.V227M|FUT8_uc001xiq.3_Missense_Mutation_p.V98M|FUT8_uc021ruy.1_Missense_Mutation_p.V98M	NM_178155	NP_004471	Q9BYC5	FUT8_HUMAN	Homo sapiens fucosyltransferase 8 (alpha (1,6) fucosyltransferase) (FUT8), transcript variant 1, mRNA.	227					L-fucose catabolic process|N-glycan processing|in utero embryonic development|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein glycosylation in Golgi	Golgi cisterna membrane|integral to membrane	SH3 domain binding|glycoprotein 6-alpha-L-fucosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		GCTCCATCATGTGGTCTACTG	0.473													4	58					0	0	0.009096	0	0	A	66136042	G	A	66136042	3	1	70	1	0	0	0	0	1	0	0	0	6110	1377	48	3	796	3	FUT8	14	66136042	Missense_Mutation	SNP	G	TCGA-DU-6397-01A-11D-1705-08	45887485	66136042	41213498	26	2985											
DDX24	57062	broad.mit.edu	37	chr14	94528925	94528925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttctgccactgcaacaccGcatgaatcattgggatggca	10	10	9	12	1	3	1	1	1	2	0	3	2	3	2	2	2	3	3	2	2	2	2			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr14:94528925G>A	uc001ycj.3	-	2	860	c.761C>T	c.(760-762)gCg>gTg	p.A254V	DDX24_uc010twq.2_Missense_Mutation_p.A211V|DDX24_uc010twr.2_Missense_Mutation_p.A4V	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 (DDX24), mRNA.	254	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CTGCAACACCGCATGAATCAT	0.458													20	70					0	0	0.062417	0	0	A	94528925	G	A	94528925	3	1	70	1	0	0	0	0	1	0	0	0	4351	1087	38	1	1846	1	DDX24	14	94528925	Missense_Mutation	SNP	G	TCGA-DU-6397-01A-11D-1705-08	28392883	94528925	12820615	27	2986											
IQGAP1	8826	broad.mit.edu	37	chr15	91030731	91030731	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccccatctcgtttcagtacaAaacgtttaattgtggatgtc	10	14	7	10	2	2	0	1	0	1	0	4	1	2	1	2	1	2	3	2	1	4	5			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr15:91030731A>G	uc002bpl.1	+	32	4266	c.4165A>G	c.(4165-4167)Aaa>Gaa	p.K1389E	IQGAP1_uc010uqg.1_Missense_Mutation_p.K10E	NM_003870	NP_003861	P46940	IQGA1_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA.	1389	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTTCAGTACAAAACGTTTAAT	0.463													7	20					0	0	0.02938	0	0	G	91030731	A	G	91030731	3	3	70	1	0	0	0	0	1	0	0	0	7814	15	1	3	4295	3	IQGAP1	15	91030731	Missense_Mutation	SNP	A	TCGA-DU-6397-01A-11D-1705-08		91030731	11500661	28	2987											
PTX4	390667	broad.mit.edu	37	chr16	1537926	1537926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacacgttgtagttgctggCgatgttctgcaggtgtgtcc	5	13	15	8	2	1	0	0	0	1	0	2	2	2	1	1	3	2	6	1	3	1	4	rs150305846	byFrequency	TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr16:1537926C>T	uc010uvf.2	-	1	172	c.172G>A	c.(172-174)Gcc>Acc	p.A58T		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	63						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TAGTTGCTGGCGATGTTCTGC	0.647													6	151					0	0	0.02938	0	0	T	1537926	C	T	1537926	3	4	70	1	0	0	0	0	1	0	0	0	12823	768	27	1	1256	1	PTX4	16	1537926	Missense_Mutation	SNP	C	TCGA-DU-6397-01A-11D-1705-08		1537926	88816827	29	2988											
FBXW10	10517	broad.mit.edu	37	chr17	18653309	18653310	+	Frame_Shift_Ins	INS	-	-	T																															ctggggtttctgggtccatcINStttttttttccaggaatgct																										TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:18653309_18653310insT	uc002gul.3	+	2	1177_1178	c.945_946insT	c.(943-948)atctttfs	p.I315fs	FBXW10_uc002guj.3_Intron|FBXW10_uc002guk.3_Intron|FBXW10_uc010cqh.2_Intron	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	293	F-box.									NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						CTGGGTCCATCTTTTTTTTTCC	0.535													7	132	---	---	---	---						T	18653310	-	T	18653309	7	5	70	1	0	1	1	0	0	0	0	0	5763	928	32	0		0	FBXW10	17	18653309	Frame_Shift_Ins	INS	-	TCGA-DU-6397-01A-11D-1705-08		18653309	62541901	30	2989											
NF1	4763	broad.mit.edu	37	chr17	29663350	29663350	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttattttccttcttcaactaGattacagatctgcttgatgt	9	19	5	8	0	3	3	1	1	2	2	4	3	4	3	1	0	3	1	1	0	4	8			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:29663350G>C	uc002hgg.3	+	41	6390	c.6007_splice	c.e41-1	p.I2003_splice	NF1_uc002hgh.3_Splice_Site_p.I1982_splice|NF1_uc010cso.3_Splice_Site_p.I191_splice|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2003					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCTTCAACTAGATTACAGATC	0.328			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			4	68					0	0	0.02938	0	0	C	29663350	G	C	29663350	5	2	70	1	0	0	0	0	0	0	1	0	10356	956	33	5	6229	5	NF1	17	29663350	Splice_Site	SNP	G	TCGA-DU-6397-01A-11D-1705-08	11010041	29663350	51531860	31	2990											
CACNA1G	8913	broad.mit.edu	37	chr17	48703623	48703623	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagagaccagaagcagcttAgagttggacacggagctgag	13	5	14	9	1	0	4	0	1	0	3	0	7	0	6	2	2	3	4	2	2	2	2			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:48703623A>G	uc002irk.1	+	37	7017	c.6645A>G	c.(6643-6645)ttA>ttG	p.L2215L	CACNA1G_uc002irj.1_Intron|CACNA1G_uc002irl.1_Silent_p.L2099L|CACNA1G_uc002irm.1_Silent_p.L2136L|CACNA1G_uc002irn.1_Silent_p.L2081L|CACNA1G_uc002iro.1_Silent_p.L2088L|CACNA1G_uc002irp.1_Silent_p.L2170L|CACNA1G_uc002irq.1_Silent_p.L2192L|CACNA1G_uc002irr.1_Silent_p.L2122L|CACNA1G_uc002irs.1_Silent_p.L2159L|CACNA1G_uc002irt.1_Silent_p.L2104L|CACNA1G_uc002iru.1_Silent_p.L2181L|CACNA1G_uc002irv.1_Silent_p.L2111L|CACNA1G_uc002irw.1_Silent_p.L2144L|CACNA1G_uc002irx.1_Intron|CACNA1G_uc002iry.1_Intron|CACNA1G_uc002isg.1_Silent_p.L1983L|CACNA1G_uc002ish.1_Silent_p.L1990L|CACNA1G_uc002isi.1_Silent_p.L1978L|CACNA1G_uc002irz.1_Silent_p.L2028L|CACNA1G_uc002isa.1_Silent_p.L2001L|CACNA1G_uc002isd.1_Silent_p.L2010L|CACNA1G_uc002isb.1_Silent_p.L2042L|CACNA1G_uc002isc.1_Silent_p.L2117L|CACNA1G_uc002ise.1_Silent_p.L2038L|CACNA1G_uc002isf.1_Silent_p.L2065L	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	2215					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GAAGCAGCTTAGAGTTGGACA	0.642											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	24					0	0	0.024245	0	0	G	48703623	A	G	48703623	2	3	70	1	0	0	0	0	0	0	0	1	2544	417	15	4		4	CACNA1G	17	48703623	Silent	SNP	A	TCGA-DU-6397-01A-11D-1705-08	19040273	48703623	32491587	32	2991											
SSTR2	6752	broad.mit.edu	37	chr17	71166516	71166516	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaatcccggctgaatgagaCcacggagacccagaggaccc	13	3	11	14	2	0	4	0	2	0	3	1	7	1	5	4	3	0	1	4	3	2	0			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:71166516C>G	uc002jje.3	+	1	1418	c.1058C>G	c.(1057-1059)aCc>aGc	p.T353S	SSTR2_uc021ucm.1_Missense_Mutation_p.T353S	NM_001050	NP_001041	P30874	SSR2_HUMAN	Homo sapiens somatostatin receptor 2 (SSTR2), mRNA.	353					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			CTGAATGAGACCACGGAGACC	0.547													11	53					0	0	0.069234	0	0	G	71166516	C	G	71166516	3	3	70	1	0	0	0	0	1	0	0	0	15197	507	18	5	1060	5	SSTR2	17	71166516	Missense_Mutation	SNP	C	TCGA-DU-6397-01A-11D-1705-08	22462893	71166516	10028694	33	2992											
LAMA3	3909	broad.mit.edu	37	chr18	21474271	21474271	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgattttagactgcataaAccaagaacccaaagatagca	17	9	6	9	0	1	4	0	1	1	3	1	4	1	4	2	0	4	2	2	0	7	4			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr18:21474271A>T	uc002kuq.3	+	42	5506	c.5420A>T	c.(5419-5421)aAc>aTc	p.N1807I	LAMA3_uc002kur.3_Missense_Mutation_p.N1807I|LAMA3_uc002kus.4_Missense_Mutation_p.N198I|LAMA3_uc002kut.4_Missense_Mutation_p.N198I|Mir_548_uc021uif.1_5'Flank	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1807	Domain III A.|Laminin EGF-like 15; truncated.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACTGCATAAACCAAGAACCC	0.378													4	54					0	0	0.021553	0	0	T	21474271	A	T	21474271	3	4	70	1	0	0	0	0	1	0	0	0	8607	43	2	5	5765	5	LAMA3	18	21474271	Missense_Mutation	SNP	A	TCGA-DU-6397-01A-11D-1705-08		21474271	56602977	34	2993											
SS18	6760	broad.mit.edu	37	chr18	23632625	23632626	+	Frame_Shift_Del	DEL	AT	AT	-																															ctcatatttggtctgggaccAtagtttcccattggttgtcc																										TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr18:23632625_23632626delAT	uc002kvm.3	-	4	647_648	c.569_570delAT	c.(568-570)tatfs	p.Y190fs	SS18_uc002kvn.3_Frame_Shift_Del_p.Y190fs|SS18_uc010xbf.2_Frame_Shift_Del_p.Y108fs|SS18_uc010xbg.2_Frame_Shift_Del_p.Y138fs|SS18_uc010xbh.2_Frame_Shift_Del_p.Y138fs|SS18_uc010xbi.2_Frame_Shift_Del_p.Y167fs|SS18_uc010dlz.1_Frame_Shift_Del_p.Y138fs	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN	Homo sapiens synovial sarcoma translocation, chromosome 18 (SS18), transcript variant 1, mRNA.	190	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					GTCTGGGACCATAGTTTCCCAT	0.426			T	"SSX1,  SSX2"	synovial sarcoma								32	127	---	---	---	---						-	23632626	AT	-	23632625	7	5	70	1	0	1	0	1	0	0	0	0	15174	224	8	0	714	0	SS18	18	23632625	Frame_Shift_Del	DEL	AT	TCGA-DU-6397-01A-11D-1705-08	2158354	23632625	54444623	35	2994											
VAV1	7409	broad.mit.edu	37	chr19	6833209	6833209	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagctccaacatctatcCggagaatgccaccgccaacg	11	6	8	16	3	1	1	0	0	1	1	3	2	3	1	6	1	5	1	6	1	4	1			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:6833209C>T	uc002mfu.1	+	15	1620	c.1523C>T	c.(1522-1524)cCg>cTg	p.P508L	VAV1_uc010xjh.1_Missense_Mutation_p.P476L|VAV1_uc010dva.1_Missense_Mutation_p.P508L|VAV1_uc002mfv.1_Missense_Mutation_p.P453L	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	508					T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						AACATCTATCCGGAGAATGCC	0.438													16	28					0	0	0.028581	0	0	T	6833209	C	T	6833209	3	4	70	1	0	0	0	0	1	0	0	0	17128	652	23	2	1585	2	VAV1	19	6833209	Missense_Mutation	SNP	C	TCGA-DU-6397-01A-11D-1705-08		6833209	52295774	36	2995											
ZNF208	7757	broad.mit.edu	37	chr19	22155223	22155223	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taactaagggttgagggccaTttataggctttgccacattc	10	13	10	8	0	0	1	0	1	0	0	1	1	0	1	2	3	2	2	2	3	4	8			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:22155223T>C	uc021urr.1	-	3	2762	c.2613A>G	c.(2611-2613)aaA>aaG	p.K871K	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.									p.K771K(2)|p.K871K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGAGGGCCATTTATAGGCTT	0.373													3	51					0	0	0.004672	0	0	C	22155223	T	C	22155223	2	2	70	1	0	0	0	0	0	0	0	1	17763	1490	52	3		3	ZNF208	19	22155223	Silent	SNP	T	TCGA-DU-6397-01A-11D-1705-08	15322014	22155223	36973760	37	2996											
KRTAP10-7	386675	broad.mit.edu	37	chr21	46020984	46020984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcttgctgcacctcctccCcctgccagcaggcctgctgt	4	9	9	19	0	0	0	0	0	0	0	2	0	2	0	6	1	6	5	6	1	0	1			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr21:46020984C>T	uc002zfn.4	+	1	473	c.448C>T	c.(448-450)Ccc>Tcc	p.P150S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198689	NP_941962	P60409	KR107_HUMAN	Homo sapiens keratin associated protein 10-7 (KRTAP10-7), mRNA.	155	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CACCTCCTCCCCCTGCCAGCA	0.592													19	37					0	0	0.0918	0	0	T	46020984	C	T	46020984	3	4	70	1	0	0	0	0	1	0	0	0	8514	623	22	3	454	3	KRTAP10-7	21	46020984	Missense_Mutation	SNP	C	TCGA-DU-6397-01A-11D-1705-08		46020984	2108911	38	2997											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17950915	17950915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtgctagatgtgtacagtGactacgtgaacaacttcacc	11	11	10	9	1	1	3	1	2	0	1	1	3	1	3	1	1	5	2	1	1	5	4			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:17950915G>A	uc001ban.3	+	12	1393	c.1234G>A	c.(1234-1236)Gac>Aac	p.D412N	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.D373N|ARHGEF10L_uc001bao.3_Missense_Mutation_p.D373N|ARHGEF10L_uc001bap.3_Missense_Mutation_p.D373N|ARHGEF10L_uc010ocr.1_Missense_Mutation_p.D170N|ARHGEF10L_uc001baq.3_Missense_Mutation_p.D178N|ARHGEF10L_uc010ocs.2_Missense_Mutation_p.D190N|ARHGEF10L_uc001bar.3_Intron|ARHGEF10L_uc009vpf.3_5'Flank	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	412	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TGTGTACAGTGACTACGTGAA	0.557													4	105					0	0	0.150653	0	0	A	17950915	G	A	17950915	3	1	71	1	0	0	0	0	1	0	0	0	895	1290	45	3	1280	3	ARHGEF10L	1	17950915	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08		17950915	231299706	1	2998											
ZMPSTE24	10269	broad.mit.edu	37	chr1	40758165	40758165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgcagatttgagtttcaaGctgatgcatttgccaagaaa	12	11	10	8	1	1	4	1	2	0	2	1	4	1	4	2	0	3	4	2	0	3	3			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:40758165G>A	uc001cfg.3	+	9	1463	c.1252G>A	c.(1252-1254)Gct>Act	p.A418T		NM_005857	NP_005848	O75844	FACE1_HUMAN	Homo sapiens zinc metallopeptidase (STE24 homolog, S. cerevisiae) (ZMPSTE24), mRNA.	418						Golgi membrane|endoplasmic reticulum membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TGAGTTTCAAGCTGATGCATT	0.388													23	108					0	0	0.069288	0	0	A	40758165	G	A	40758165	3	1	71	1	0	0	0	0	1	0	0	0	17695	971	34	3	1290	3	ZMPSTE24	1	40758165	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08	22807250	40758165	208492456	2	2999											
MAST2	23139	broad.mit.edu	37	chr1	46474027	46474027	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgatgaatcatgtttacaAagaaagattcccaaaggtaa	19	10	7	5	0	1	4	1	2	0	2	2	4	2	4	1	1	1	2	1	1	7	4			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:46474027A>G	uc001cov.3	+	8	1245	c.962A>G	c.(961-963)aAa>aGa	p.K321R	MAST2_uc001cow.3_Missense_Mutation_p.K321R|MAST2_uc001coy.1_Missense_Mutation_p.K29R|MAST2_uc001coz.1_Missense_Mutation_p.K206R|MAST2_uc009vya.3_Missense_Mutation_p.K243R|MAST2_uc001cpa.3_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	321					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CATGTTTACAAAGAAAGATTC	0.433													8	31					0	0	0.038147	0	0	G	46474027	A	G	46474027	3	3	71	1	0	0	0	0	1	0	0	0	9325	14	1	3	996	3	MAST2	1	46474027	Missense_Mutation	SNP	A	TCGA-DU-6399-01A-12D-1705-08	5715862	46474027	202776594	3	3000											
LRRIQ3	127255	broad.mit.edu	37	chr1	74507115	74507115	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttttagaaacagagctttTctctctctagctttttcaag	9	18	5	9	0	4	2	1	0	3	2	6	2	4	2	0	0	3	2	0	0	4	7			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:74507115T>C	uc001dfy.4	-	6	1692	c.1500A>G	c.(1498-1500)agA>agG	p.R500R	LRRIQ3_uc001dfz.4_Intron	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	500										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						ACAGAGCTTTTCTCTCTCTAG	0.338													6	136					0	0	0.021553	0	0	C	74507115	T	C	74507115	2	2	71	1	0	0	0	0	0	0	0	1	9030	1780	62	3		3	LRRIQ3	1	74507115	Silent	SNP	T	TCGA-DU-6399-01A-12D-1705-08	28033088	74507115	174743506	4	3001											
NTNG1	22854	broad.mit.edu	37	chr1	107973470	107973470	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacactagagggcagcacTgtgagttatgcaggctgggc	11	7	14	9	0	0	2	0	1	0	1	0	2	0	2	0	3	3	5	0	3	3	2			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:107973470T>C	uc001dvh.4	+	5	1904	c.1186T>C	c.(1186-1188)Tgt>Cgt	p.C396R	NTNG1_uc001dvc.4_Intron|NTNG1_uc010out.2_Intron|NTNG1_uc001dvf.4_Intron|NTNG1_uc001dvi.3_Intron|NTNG1_uc001dve.3_Non-coding_Transcript|NTNG1_uc009wek.3_Intron|NTNG1_uc001dvg.3_Intron|NTNG1_uc009wem.3_Intron	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.	396	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		AGGGCAGCACTGTGAGTTATG	0.443													3	33					0	0	0.115264	0	0	C	107973470	T	C	107973470	3	2	71	1	0	0	0	0	1	0	0	0	10704	1580	55	4	1338	4	NTNG1	1	107973470	Missense_Mutation	SNP	T	TCGA-DU-6399-01A-12D-1705-08	33466355	107973470	141277151	5	3002											
PHGDH	26227	broad.mit.edu	37	chr1	120277955	120277955	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctttgcccagtgcaagaaGggggtgcgtgtggtgaactg	8	9	16	8	1	0	2	0	1	0	1	0	2	0	2	2	3	4	1	2	3	3	1			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:120277955G>T	uc001ehz.3	+	6	908	c.681G>T	c.(679-681)aaG>aaT	p.K227N	PHGDH_uc009whm.3_Missense_Mutation_p.K125N|PHGDH_uc001eib.3_Missense_Mutation_p.K193N	NM_006623	NP_006614	O43175	SERA_HUMAN	Homo sapiens phosphoglycerate dehydrogenase (PHGDH), mRNA.	227					L-serine biosynthetic process|brain development		NAD binding|electron carrier activity|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	AGTGCAAGAAGGGGGTGCGTG	0.642													5	165					0.014758	0.0154444	0.184627	1	0	T	120277955	G	T	120277955	3	4	71	1	0	0	0	0	1	0	0	0	11841	991	35	5	707	5	PHGDH	1	120277955	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08	12304485	120277955	128972666	6	3003											
LMX1A	4009	broad.mit.edu	37	chr1	165183011	165183011	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttcctttccctgccccaTgggctgacttgcagagactt	6	12	9	14	0	0	2	0	1	0	1	2	3	2	2	4	1	2	3	4	1	0	4			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:165183011T>C	uc001gcz.2	-	4	730	c.536A>G	c.(535-537)cAt>cGt	p.H179R	LMX1A_uc021pdz.1_Missense_Mutation_p.H179R|LMX1A_uc021pdy.1_5'Flank|LMX1A_uc001gcw.2_5'Flank	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	179						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CCCTGCCCCATGGGCTGACTT	0.498													91	97					0	0	0.139131	0	0	C	165183011	T	C	165183011	3	2	71	1	0	0	0	0	1	0	0	0	8861	1464	51	3	632	3	LMX1A	1	165183011	Missense_Mutation	SNP	T	TCGA-DU-6399-01A-12D-1705-08	44905056	165183011	84067610	7	3004											
RXRG	6258	broad.mit.edu	37	chr1	165386373	165386373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggcagtctttattatccCgacacgtgtagatgaggtcc	9	12	11	9	2	1	3	0	2	1	1	3	4	3	3	2	2	0	2	2	2	3	4			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:165386373C>T	uc001gda.3	-	3	989	c.527G>A	c.(526-528)cGg>cAg	p.R176Q	RXRG_uc021pea.1_Missense_Mutation_p.R53Q	NM_006917	NP_008848	P48443	RXRG_HUMAN	Homo sapiens retinoid X receptor, gamma (RXRG), transcript variant 1, mRNA.	176					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.R176W(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	TTTATTATCCCGACACGTGTA	0.498													4	103					0	0	0.150653	0	0	T	165386373	C	T	165386373	3	4	71	1	0	0	0	0	1	0	0	0	13765	652	23	2	892	2	RXRG	1	165386373	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08	203362	165386373	83864248	8	3005											
TOR1AIP2	163590	broad.mit.edu	37	chr1	179815253	179815253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctactcactggctggactgGcagtaccaggtgtgaaattc	9	10	12	10	0	1	1	1	1	0	0	2	2	1	2	1	4	2	4	1	4	3	3			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:179815253G>A	uc001gnl.3	-	6	2180	c.1366C>T	c.(1366-1368)Cca>Tca	p.P456S	TOR1AIP2_uc001gnk.3_Missense_Mutation_p.P456S	NM_001199260	NP_001186189	Q8NFQ8	TOIP2_HUMAN	Homo sapiens torsin A interacting protein 2 (TOR1AIP2), transcript variant 3, mRNA.	456						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						GGCTGGACTGGCAGTACCAGG	0.463													3	71					0	0	0.115264	0	0	A	179815253	G	A	179815253	3	1	71	1	0	0	0	0	1	0	0	0	16370	1203	42	3	50	3	TOR1AIP2	1	179815253	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08	14428880	179815253	69435368	9	3006											
HMCN1	83872	broad.mit.edu	37	chr1	185951454	185951454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tattgaaggacagcagcttaCtttgccctgtactctgttag	9	14	9	9	0	1	1	0	1	1	0	1	2	1	2	1	1	5	4	1	1	5	6			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:185951454C>T	uc001grq.1	+	17	2952	c.2723C>T	c.(2722-2724)aCt>aTt	p.T908I	HMCN1_uc001grr.1_Missense_Mutation_p.T249I	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	908	Ig-like C2-type 6.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGCAGCTTACTTTGCCCTGT	0.418													36	108					0	0	0.183431	0	0	T	185951454	C	T	185951454	3	4	71	1	0	0	0	0	1	0	0	0	7220	565	20	3	2793	3	HMCN1	1	185951454	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08	6136201	185951454	63299167	10	3007											
THSD7B	80731	broad.mit.edu	37	chr2	138320879	138320879	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcaaaatcaacaatgagcTgaggtccctgcgctgtggag	12	8	12	9	1	1	2	1	2	0	0	2	3	2	3	1	2	4	3	1	2	4	0			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr2:138320879T>A	uc002tva.1	+	14	3137	c.3137T>A	c.(3136-3138)cTg>cAg	p.L1046Q	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AACAATGAGCTGAGGTCCCTG	0.443													4	33					0	0	0.150653	0	0	A	138320879	T	A	138320879	3	1	71	1	0	0	0	0	1	0	0	0	15877	1580	55	5	3197	5	THSD7B	2	138320879	Missense_Mutation	SNP	T	TCGA-DU-6399-01A-12D-1705-08		138320879	104878494	11	3008											
SCN7A	6332	broad.mit.edu	37	chr2	167298214	167298214	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagttactaagagaccacaTcaaaatctggaatgttggcc	14	10	9	8	0	2	2	1	1	1	1	2	4	2	3	2	2	1	2	2	2	5	3			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr2:167298214T>C	uc002udu.2	-	13	1979	c.1849A>G	c.(1849-1851)Atg>Gtg	p.M617V	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	617					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AGAGACCACATCAAAATCTGG	0.383													16	36					0	0	0.146539	0	0	C	167298214	T	C	167298214	3	2	71	1	0	0	0	0	1	0	0	0	13923	1435	50	3	3247	3	SCN7A	2	167298214	Missense_Mutation	SNP	T	TCGA-DU-6399-01A-12D-1705-08	28977335	167298214	75901159	12	3009											
COL3A1	1281	broad.mit.edu	37	chr2	189867065	189867065	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctccaggacctgctggtttCcctggtgctcctgtaagtgt	4	13	11	13	0	0	0	0	0	0	0	3	1	3	1	5	3	2	4	5	3	1	2			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr2:189867065C>T	uc002uqj.1	+	34	2550	c.2433C>T	c.(2431-2433)ttC>ttT	p.F811F		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	811	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CTGCTGGTTTCCCTGGTGCTC	0.438													4	39					0	0	0.184627	0	0	T	189867065	C	T	189867065	2	4	71	1	0	0	0	0	0	0	0	1	3688	854	30	3		3	COL3A1	2	189867065	Silent	SNP	C	TCGA-DU-6399-01A-12D-1705-08	22568851	189867065	53332308	13	3010											
NEU2	4759	broad.mit.edu	37	chr2	233899633	233899633	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgtgcctactcagacCtccagagcatgggcaccggc	8	6	12	15	1	1	2	1	0	0	2	2	2	2	2	4	2	4	4	4	2	1	1			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr2:233899633C>A	uc010zmn.2	+	1	1009	c.1009C>A	c.(1009-1011)Ctc>Atc	p.L337I		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	337							exo-alpha-sialidase activity	p.D336N(1)		endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CTACTCAGACCTCCAGAGCAT	0.607													18	128					5.01169e-05	5.43437e-05	0.160694	1	0	A	233899633	C	A	233899633	3	1	71	1	0	0	0	0	1	0	0	0	10342	681	24	5	1015	5	NEU2	2	233899633	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08	44032568	233899633	9299740	14	3011											
PPARG	5468	broad.mit.edu	37	chr3	12458613	12458613	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcactggaattagatgacagCgacttggcaatatttattgc	12	12	10	7	1	0	2	0	1	0	1	0	4	0	3	0	2	2	2	0	2	5	6	rs148844673		TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr3:12458613C>T	uc003bwx.3	+	5	1321	c.1230C>T	c.(1228-1230)agC>agT	p.S410S	PPARG_uc003bwr.3_Silent_p.S382S|PPARG_uc003bws.3_Silent_p.S382S|PPARG_uc003bwu.3_Silent_p.S382S|PPARG_uc003bwv.3_Intron|PPARG_uc010hea.1_Non-coding_Transcript	NM_015869	NP_619726	P37231	PPARG_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA.	410	Ligand-binding.				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	TAGATGACAGCGACTTGGCAA	0.428			T	PAX8	follicular thyroid		"Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"						7	44					0	0	0.02938	0	0	T	12458613	C	T	12458613	2	4	71	1	0	0	0	0	0	0	0	1	12299	767	27	1		1	PPARG	3	12458613	Silent	SNP	C	TCGA-DU-6399-01A-12D-1705-08		12458613	185563817	15	3012											
TFRC	7037	broad.mit.edu	37	chr3	195800987	195800987	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacaatagcccaagtagccaAtcataaatcctaaagagaca	19	7	5	10	0	1	1	1	0	0	1	2	2	2	1	3	0	3	1	3	0	10	5			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr3:195800987A>G	uc003fvz.4	-	3	531	c.248T>C	c.(247-249)aTt>aCt	p.I83T	TFRC_uc003fwa.4_Missense_Mutation_p.I83T|TFRC_uc010hzy.3_Missense_Mutation_p.I2T|TFRC_uc011btr.2_Intron	NM_003234	NP_003225	P02786	TFR1_HUMAN	Homo sapiens transferrin receptor (p90, CD71) (TFRC), transcript variant 1, mRNA.	83					cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		CAAGTAGCCAATCATAAATCC	0.423			T	BCL6	NHL								11	45					0	0	0.069234	0	0	G	195800987	A	G	195800987	3	3	71	1	0	0	0	0	1	0	0	0	15809	101	4	3	2098	3	TFRC	3	195800987	Missense_Mutation	SNP	A	TCGA-DU-6399-01A-12D-1705-08	183342374	195800987	2221443	16	3013											
GPR125	166647	broad.mit.edu	37	chr4	22436987	22436987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaatttttcaatcatttctgCcacaaatataacatccattt	15	16	1	9	0	3	0	2	0	1	0	4	0	4	0	2	0	2	0	2	0	5	6			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr4:22436987C>T	uc003gqm.1	-	9	1655	c.1390G>A	c.(1390-1392)Gca>Aca	p.A464T	GPR125_uc010ieo.1_Missense_Mutation_p.A338T|GPR125_uc003gqn.1_Missense_Mutation_p.A238T|GPR125_uc003gqo.3_Missense_Mutation_p.A464T	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.	464					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				ATCATTTCTGCCACAAATATA	0.393													11	49					0	0	0.069234	0	0	T	22436987	C	T	22436987	3	4	71	1	0	0	0	0	1	0	0	0	6639	739	26	3	2615	3	GPR125	4	22436987	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08		22436987	168717289	17	3014											
C6orf222	389384	broad.mit.edu	37	chr6	36290199	36290199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcgggcaggggctcccGgcactcgagatcttctggat	5	10	14	12	3	3	1	0	0	3	1	5	3	4	2	1	5	1	3	1	5	0	2			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:36290199G>A	uc003oly.3	-	8	1670	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W		NM_001010903	NP_001010903	P0C671	CF222_HUMAN	Homo sapiens chromosome 6 open reading frame 222 (C6orf222), mRNA.	498										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						AGGGGCTCCCGGCACTCGAGA	0.567													11	75					0	0	0.080935	0	0	A	36290199	G	A	36290199	3	1	71	1	0	0	0	0	1	0	0	0	2356	1115	39	2	482	2	C6orf222	6	36290199	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08		36290199	134824868	18	3015											
TMEM63B	55362	broad.mit.edu	37	chr6	44116117	44116117	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccacaatgagactatcacCgccatgtgagtccccaactc	11	9	6	15	1	1	2	1	2	0	1	4	3	3	2	5	0	1	0	5	0	3	2			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:44116117C>T	uc003owr.3	+	12	1180	c.1116C>T	c.(1114-1116)acC>acT	p.T372T	TMEM63B_uc003owq.1_Silent_p.T372T|TMEM63B_uc003ows.3_Silent_p.T275T|TMEM63B_uc010jyz.3_Non-coding_Transcript	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.	372						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			AGACTATCACCGCCATGTGAG	0.592													6	83					0	0	0.02938	0	0	T	44116117	C	T	44116117	2	4	71	1	0	0	0	0	0	0	0	1	16188	639	23	2		2	TMEM63B	6	44116117	Silent	SNP	C	TCGA-DU-6399-01A-12D-1705-08	7825918	44116117	126998950	19	3016											
HCRTR2	3062	broad.mit.edu	37	chr6	55147128	55147128	+	Frame_Shift_Del	DEL	G	G	-																															acgaactagcacagagagccGgaagtccttgaccactcaaa																										TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:55147128delG	uc003pcl.3	+	6	1526	c.1211delG	c.(1210-1212)cggfs	p.R404fs	HCRTR2_uc010jzv.3_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	404					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)			ACAGAGAGCCGGAAGTCCTTG	0.483													12	25	---	---	---	---						-	55147128	G	-	55147128	7	5	71	1	0	1	0	1	0	0	0	0	7002	1116	39	0	1237	0	HCRTR2	6	55147128	Frame_Shift_Del	DEL	G	TCGA-DU-6399-01A-12D-1705-08	11031011	55147128	115967939	20	3017											
FILIP1	27145	broad.mit.edu	37	chr6	76124523	76124523	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtttttaggtgtcgttTgacagttcctgaggccatga	8	15	12	6	1	0	4	0	3	0	1	2	4	1	4	2	2	0	3	2	2	1	5			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:76124523T>C	uc010kbe.3	-	2	705	c.175A>G	c.(175-177)Aaa>Gaa	p.K59E	FILIP1_uc003phy.1_Missense_Mutation_p.K56E|FILIP1_uc003pia.3_Missense_Mutation_p.K56E	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	56										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						AGGTGTCGTTTGACAGTTCCT	0.403													104	138					0	0	0.139131	0	0	C	76124523	T	C	76124523	3	2	71	1	0	0	0	0	1	0	0	0	5894	1821	63	3	3495	3	FILIP1	6	76124523	Missense_Mutation	SNP	T	TCGA-DU-6399-01A-12D-1705-08	20977395	76124523	94990544	21	3018											
ZNF292	23036	broad.mit.edu	37	chr6	87966561	87966561	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaagacattagaaagtattGcatttgttccaccgcagtcc	12	13	7	9	1	0	2	0	0	0	2	2	2	2	2	3	0	1	4	3	0	4	6			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:87966561G>C	uc003plm.4	+	7	3255	c.3214G>C	c.(3214-3216)Gca>Cca	p.A1072P		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	1072					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AGAAAGTATTGCATTTGTTCC	0.373													6	76					0	0	0.02938	0	0	C	87966561	G	C	87966561	3	2	71	1	0	0	0	0	1	0	0	0	17823	1319	46	5	3244	5	ZNF292	6	87966561	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08	11842038	87966561	83148506	22	3019											
FRK	2444	broad.mit.edu	37	chr6	116381413	116381413	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggttgacttgtctgcctccGtggacaaacaggggagatag	9	9	14	9	2	1	2	0	1	1	1	2	4	2	3	2	4	2	1	2	4	2	3			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:116381413G>A	uc003pwi.1	-	0	509	c.62C>T	c.(61-63)aCg>aTg	p.T21M		NM_002031	NP_002022	P42685	FRK_HUMAN	Homo sapiens fyn-related kinase (FRK), mRNA.	21					negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.T21T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		GTCTGCCTCCGTGGACAAACA	0.537													9	110					0	0	0.09319	0	0	A	116381413	G	A	116381413	3	1	71	1	0	0	0	0	1	0	0	0	6048	1145	40	1	1487	1	FRK	6	116381413	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08	28414852	116381413	54733654	23	3020											
SLC22A2	6582	broad.mit.edu	37	chr6	160679569	160679569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtcctgggcccggcaccGtgtagttcagttcctctgca	5	10	12	14	2	2	0	1	0	1	0	4	0	4	0	4	3	1	5	4	3	1	3			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:160679569G>A	uc003qtf.3	-	0	395	c.221C>T	c.(220-222)aCg>aTg	p.T74M	SLC22A2_uc003qth.2_Missense_Mutation_p.T74M	NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	74					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GCCCGGCACCGTGTAGTTCAG	0.672													8	44					0	0	0.038147	0	0	A	160679569	G	A	160679569	3	1	71	1	0	0	0	0	1	0	0	0	14450	1145	40	1	1490	1	SLC22A2	6	160679569	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08	44298156	160679569	10435498	24	3021											
WIPI2	26100	broad.mit.edu	37	chr7	5270498	5270498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgggtgctgtgggtggcGcctgcctggaggacgaggcc	4	7	19	11	2	0	0	0	0	0	0	0	3	0	2	4	6	2	1	4	6	0	0			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr7:5270498G>A	uc003snv.3	+	12	1501	c.1285G>A	c.(1285-1287)Gcc>Acc	p.A429T	WIPI2_uc003snw.3_Missense_Mutation_p.A418T|WIPI2_uc003snx.3_Missense_Mutation_p.A411T|WIPI2_uc003sny.3_Missense_Mutation_p.A400T|WIPI2_uc010ksv.3_Missense_Mutation_p.A285T|WIPI2_uc003soa.3_Missense_Mutation_p.A359T	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN	Homo sapiens WD repeat domain, phosphoinositide interacting 2 (WIPI2), transcript variant 1, mRNA.	429					autophagic vacuole assembly	PAS complex|cytosol|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		TGTGGGTGGCGCCTGCCTGGA	0.612													11	33					0	0	0.069234	0	0	A	5270498	G	A	5270498	3	1	71	1	0	0	0	0	1	0	0	0	17368	1087	38	1	1369	1	WIPI2	7	5270498	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08		5270498	153868165	25	3022											
ZDHHC4	55146	broad.mit.edu	37	chr7	6624735	6624735	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaacatcaggtacttcctCatctacgtcttgaccttgac	9	13	7	12	1	4	2	2	2	2	0	5	3	5	3	2	2	3	1	2	2	3	5			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr7:6624735C>T	uc003sqi.3	+	7	943	c.585C>T	c.(583-585)ctC>ctT	p.L195L	ZDHHC4_uc003sql.3_Silent_p.L195L|ZDHHC4_uc003sqj.3_Silent_p.L195L|ZDHHC4_uc003sqh.3_Silent_p.L195L	NM_001134388	NP_060576	Q9NPG8	ZDHC4_HUMAN	Homo sapiens zinc finger, DHHC-type containing 4 (ZDHHC4), transcript variant 2, mRNA.	195						integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		GGTACTTCCTCATCTACGTCT	0.527													3	42					0	0	0.115264	0	0	T	6624735	C	T	6624735	2	4	71	1	0	0	0	0	0	0	0	1	17614	813	29	3		3	ZDHHC4	7	6624735	Silent	SNP	C	TCGA-DU-6399-01A-12D-1705-08	1354237	6624735	152513928	26	3023											
COBL	23242	broad.mit.edu	37	chr7	51287614	51287614	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcagcctttccaggaggTgggggagcacgagccttcat	7	8	16	10	1	1	0	1	0	0	0	2	3	2	2	3	5	3	2	3	5	0	2	rs145775268	by1000genomes	TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr7:51287614T>G	uc003tps.3	-	1	254	c.69A>C	c.(67-69)ccA>ccC	p.P23P	COBL_uc003tpr.4_Silent_p.P23P|COBL_uc011kcl.2_Silent_p.P23P|COBL_uc010kzc.3_Silent_p.P23P|COBL_uc003tpt.3_Silent_p.P23P	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	23	Poly-Pro.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTCCAGGAGGTGGGGGAGCAC	0.552													4	36					0	0	0.184627	0	0	G	51287614	T	G	51287614	2	3	71	1	0	0	0	0	0	0	0	1	3653	1683	59	5		5	COBL	7	51287614	Silent	SNP	T	TCGA-DU-6399-01A-12D-1705-08	44662879	51287614	107851049	27	3024											
RP1	6101	broad.mit.edu	37	chr8	55541622	55541622	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggtacaaaacaaaatgAtgatagcagaatcctcacag	18	7	7	9	0	1	3	1	2	0	1	2	3	2	3	2	1	3	2	2	1	7	2			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr8:55541622A>G	uc003xsd.1	+	3	5328	c.5180A>G	c.(5179-5181)gAt>gGt	p.D1727G	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1727					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAACAAAATGATGATAGCAGA	0.393													6	72					0	0	0.021553	0	0	G	55541622	A	G	55541622	3	3	71	1	0	0	0	0	1	0	0	0	13532	333	12	3	5190	3	RP1	8	55541622	Missense_Mutation	SNP	A	TCGA-DU-6399-01A-12D-1705-08		55541622	90822400	28	3025											
XKR9	389668	broad.mit.edu	37	chr8	71646325	71646325	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tataagtatggaattcttatAtaggattgttgttggattca	12	18	9	2	0	2	0	1	0	1	0	2	3	2	3	0	3	0	3	0	3	7	11			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr8:71646325A>G	uc003xyq.3	+	4	1322	c.788A>G	c.(787-789)tAt>tGt	p.Y263C	XKR9_uc010lzd.3_Missense_Mutation_p.Y131C|XKR9_uc010lze.3_Missense_Mutation_p.Y263C	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 9 (XKR9), mRNA.	263						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GAATTCTTATATAGGATTGTT	0.289													20	56					0	0	0.189662	0	0	G	71646325	A	G	71646325	3	3	71	1	0	0	0	0	1	0	0	0	17435	449	16	3	798	3	XKR9	8	71646325	Missense_Mutation	SNP	A	TCGA-DU-6399-01A-12D-1705-08	16104703	71646325	74717697	29	3026											
ANKRD30A	91074	broad.mit.edu	37	chr10	37508692	37508692	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacaacaaaagcaagataaCaattgatattcattttcttg	17	13	5	6	0	2	3	1	2	1	1	2	3	2	3	0	0	3	1	0	0	7	7			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr10:37508692C>A	uc021ppc.1	+	33	3983	c.3884C>A	c.(3883-3885)aCa>aAa	p.T1295K	ANKRD30A_uc001iza.1_Missense_Mutation_p.T1295K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1351						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGCAAGATAACAATTGATATT	0.294													9	24					2.17888e-05	2.42097e-05	0.058154	1	0	A	37508692	C	A	37508692	3	1	71	1	0	0	0	0	1	0	0	0	658	478	17	5	4018	5	ANKRD30A	10	37508692	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08		37508692	98026055	30	3027											
OR13A1	79290	broad.mit.edu	37	chr10	45799644	45799644	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagtaagaaaaagtacataGgagcgtggagcccagggttg	14	7	15	5	1	0	2	0	1	0	1	0	4	0	4	1	3	3	3	1	3	5	4			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr10:45799644G>C	uc001jcc.1	-	3	536	c.227C>G	c.(226-228)cCt>cGt	p.P76R	OR13A1_uc001jcd.1_Missense_Mutation_p.P72R|OR13A1_uc021ppq.1_Missense_Mutation_p.P76R	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily A, member 1 (OR13A1), mRNA.	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						AAAGTACATAGGAGCGTGGAG	0.517													6	19					0	0	0.02938	0	0	C	45799644	G	C	45799644	3	2	71	1	0	0	0	0	1	0	0	0	10933	1000	35	5	763	5	OR13A1	10	45799644	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08	8290952	45799644	89735103	31	3028											
POLR3A	11128	broad.mit.edu	37	chr10	79785906	79785906	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatgttggttgtcctggctGtacaggttcttactcacaac	7	14	10	10	0	2	0	1	0	1	0	3	0	3	0	1	3	3	6	1	3	3	5			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr10:79785906G>A	uc001jzn.3	-	1	259	c.126C>T	c.(124-126)taC>taT	p.Y42Y		NM_007055	NP_008986	O14802	RPC1_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA.	42					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TGTCCTGGCTGTACAGGTTCT	0.532													3	53					0	0	0.115264	0	0	A	79785906	G	A	79785906	2	1	71	1	0	0	0	0	0	0	0	1	12228	1372	48	3		3	POLR3A	10	79785906	Silent	SNP	G	TCGA-DU-6399-01A-12D-1705-08	33986262	79785906	55748841	32	3029											
XPNPEP1	7511	broad.mit.edu	37	chr10	111647887	111647887	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattttgtcaacgaggttcTccttgacaggaatgaggtga	11	12	12	6	1	2	4	1	3	1	1	3	6	2	5	1	3	1	1	1	3	2	4			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr10:111647887T>C	uc001kyp.2	-	6	692	c.572A>G	c.(571-573)gAg>gGg	p.E191G	XPNPEP1_uc009xxt.2_Missense_Mutation_p.E191G|XPNPEP1_uc001kyq.2_Missense_Mutation_p.E77G|XPNPEP1_uc010qrb.2_Missense_Mutation_p.E191G	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 1, soluble (XPNPEP1), transcript variant 1, mRNA.	148					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AACGAGGTTCTCCTTGACAGG	0.522													5	17					0	0	0.184627	0	0	C	111647887	T	C	111647887	3	2	71	1	0	0	0	0	1	0	0	0	17439	1551	54	4	1488	4	XPNPEP1	10	111647887	Missense_Mutation	SNP	T	TCGA-DU-6399-01A-12D-1705-08	31861981	111647887	23886860	33	3030											
NLRP14	338323	broad.mit.edu	37	chr11	7061017	7061017	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agatcaggaggcagtgctggGtgagtagttaggcctttcat	9	11	15	6	0	2	2	2	1	0	1	2	3	2	3	1	4	1	4	1	4	2	3			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:7061017G>A	uc001mfb.1	+	3	684	c.361_splice	c.e3+1	p.G121_splice		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	121					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GCAGTGCTGGGTGAGTAGTTA	0.468													5	114					0	0	0.184627	0	0	A	7061017	G	A	7061017	5	1	71	1	0	0	0	0	0	0	1	0	10476	1275	44	3	368	3	NLRP14	11	7061017	Splice_Site	SNP	G	TCGA-DU-6399-01A-12D-1705-08		7061017	127945499	34	3031											
OR5L1	219437	broad.mit.edu	37	chr11	55579456	55579456	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatccccttctatagatctAatgtgattaaccactttttc	10	16	5	10	0	2	2	0	1	2	1	4	3	3	3	3	1	1	0	3	1	4	7			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:55579456A>G	uc001nhw.1	+	0	514	c.514A>G	c.(514-516)Aat>Gat	p.N172D		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTATAGATCTAATGTGATTAA	0.458													5	219					0	0	0.021553	0	0	G	55579456	A	G	55579456	3	3	71	1	0	0	0	0	1	0	0	0	11170	362	13	3	516	3	OR5L1	11	55579456	Missense_Mutation	SNP	A	TCGA-DU-6399-01A-12D-1705-08	48518439	55579456	79427060	35	3032											
OR9G9	390174	broad.mit.edu	37	chr11	56468711	56468711	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacactgtggtattccccaTgttgaatctcatgatctaca	10	15	6	10	0	2	2	1	2	2	0	4	2	3	2	2	1	2	2	2	1	4	5			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:56468711T>G	uc010rjn.2	+	0	848	c.848T>G	c.(847-849)aTg>aGg	p.M283R	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										GTATTCCCCATGTTGAATCTC	0.388													19	91					0	0	0.175082	0	0	G	56468711	T	G	56468711	3	3	71	1	0	0	0	0	1	0	0	0	11252	1464	51	5	850	5	OR9G9	11	56468711	Missense_Mutation	SNP	T	TCGA-DU-6399-01A-12D-1705-08	889255	56468711	78537805	36	3033											
OR9G4	283189	broad.mit.edu	37	chr11	56511045	56511045	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccagaaatccaaaaaagaCagattgccaatgaaaaagta	22	6	6	7	0	0	4	0	1	0	3	1	4	1	4	3	0	2	1	3	0	9	3			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:56511045C>G	uc010rjo.2	-	0	243	c.243G>C	c.(241-243)ctG>ctC	p.L81L		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CCAAAAAAGACAGATTGCCAA	0.428													12	76					0	0	0.105934	0	0	G	56511045	C	G	56511045	2	3	71	1	0	0	0	0	0	0	0	1	11251	465	17	5		5	OR9G4	11	56511045	Silent	SNP	C	TCGA-DU-6399-01A-12D-1705-08	42334	56511045	78495471	37	3034											
RPS6KA4	8986	broad.mit.edu	37	chr11	64137197	64137197	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtacgccgacgacacgccCggggccccggtgaaaatcat	9	5	12	15	6	1	1	1	1	0	0	1	3	1	1	4	3	1	1	4	3	3	1			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:64137197C>T	uc001oae.3	+	13	1712	c.1629C>T	c.(1627-1629)ccC>ccT	p.P543P	RPS6KA4_uc001oad.3_Silent_p.P537P|RPS6KA4_uc010rnl.2_Silent_p.P480P|RPS6KA4_uc001oaf.3_Silent_p.P536P|RPS6KA4_uc009ypp.3_Intron	NM_003942	NP_003933	O75676	KS6A4_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 4 (RPS6KA4), transcript variant 1, mRNA.	543	Protein kinase 2.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						ACGACACGCCCGGGGCCCCGG	0.721													3	19					0	0	0.115264	0	0	T	64137197	C	T	64137197	2	4	71	1	0	0	0	0	0	0	0	1	13653	639	23	2		2	RPS6KA4	11	64137197	Silent	SNP	C	TCGA-DU-6399-01A-12D-1705-08	7626152	64137197	70869319	38	3035											
SPCS2	9789	broad.mit.edu	37	chr11	74680630	74680630	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctattttgtgatgatggggaTtctgaccatttatacctcat	9	17	8	7	0	2	3	1	3	1	0	2	4	2	4	2	2	1	0	2	2	3	7			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:74680630T>C	uc001ovu.2	+	3	419	c.380T>C	c.(379-381)aTt>aCt	p.I127T		NM_014752	NP_055567	Q15005	SPCS2_HUMAN	Homo sapiens signal peptidase complex subunit 2 homolog (S. cerevisiae) (SPCS2), mRNA.	127					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity			breast(1)	1						ATGATGGGGATTCTGACCATT	0.378													14	41					0	0	0.105934	0	0	C	74680630	T	C	74680630	3	2	71	1	0	0	0	0	1	0	0	0	15023	1493	52	3	394	3	SPCS2	11	74680630	Missense_Mutation	SNP	T	TCGA-DU-6399-01A-12D-1705-08	10543433	74680630	60325886	39	3036											
RAB38	23682	broad.mit.edu	37	chr11	87883114	87883114	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcgtcatgtttccaaatCtttcttgacctgacaccaaa	10	13	4	14	1	3	2	1	2	2	0	5	2	4	2	4	0	0	1	4	0	2	3			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:87883114C>A	uc001pcj.2	-	1	295	c.212G>T	c.(211-213)aGa>aTa	p.R71I		NM_022337	NP_071732	P57729	RAB38_HUMAN	Homo sapiens RAB38, member RAS oncogene family (RAB38), mRNA.	71					protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GTTTCCAAATCTTTCTTGACC	0.383													19	275					5.35267e-07	6.02175e-07	0.189662	1	0	A	87883114	C	A	87883114	3	1	71	1	0	0	0	0	1	0	0	0	12928	913	32	5	431	5	RAB38	11	87883114	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08	13202484	87883114	47123402	40	3037											
ALX1	8092	broad.mit.edu	37	chr12	85677644	85677644	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggacagagctcactgaggCcagggtccaggtaggagcca	11	4	16	10	0	1	2	1	1	0	1	2	5	2	4	3	5	2	2	3	5	1	1			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr12:85677644C>T	uc001tae.4	+	1	525	c.521C>T	c.(520-522)gCc>gTc	p.A174V		NM_006982	NP_008913	Q15699	ALX1_HUMAN	Homo sapiens ALX homeobox 1 (ALX1), mRNA.	174					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CTCACTGAGGCCAGGGTCCAG	0.443													18	82					0	0	0.160694	0	0	T	85677644	C	T	85677644	3	4	71	1	0	0	0	0	1	0	0	0	556	739	26	3	527	3	ALX1	12	85677644	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08		85677644	48174251	41	3038											
POSTN	10631	broad.mit.edu	37	chr13	38153417	38153417	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctttaaaatgttagtaacAccaggttcaaatccttttcc	12	15	5	9	0	2	0	1	0	1	0	4	0	4	0	3	1	1	3	3	1	5	7			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr13:38153417A>G	uc001uwo.4	-	12	1858	c.1740T>C	c.(1738-1740)ggT>ggC	p.G580G	POSTN_uc010tet.2_Silent_p.G108G|POSTN_uc001uwp.4_Silent_p.G580G|POSTN_uc001uwr.3_Silent_p.G580G|POSTN_uc001uwq.3_Silent_p.G580G|POSTN_uc010teu.1_Silent_p.G580G|POSTN_uc010tev.1_Silent_p.G580G|POSTN_uc010tew.1_Silent_p.G580G|POSTN_uc010tex.1_Silent_p.G495G	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	580	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TGTTAGTAACACCAGGTTCAA	0.333													11	29					0	0	0.069234	0	0	G	38153417	A	G	38153417	2	3	71	1	0	0	0	0	0	0	0	1	12259	146	6	3		3	POSTN	13	38153417	Silent	SNP	A	TCGA-DU-6399-01A-12D-1705-08		38153417	77016461	42	3039											
ESR2	2100	broad.mit.edu	37	chr14	64735545	64735545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccacttcgtaacacttcCgaagtcggcaggcctggcag	8	9	10	14	3	0	0	0	0	0	0	4	1	2	0	3	3	1	3	3	3	2	4			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr14:64735545C>T	uc001xha.1	-	3	1088	c.620G>A	c.(619-621)cGg>cAg	p.R207Q	ESR2_uc001xgy.2_Missense_Mutation_p.R207Q|ESR2_uc001xgu.3_Missense_Mutation_p.R207Q|ESR2_uc001xgv.3_Missense_Mutation_p.R207Q|ESR2_uc001xgw.3_Non-coding_Transcript|ESR2_uc001xgx.3_Missense_Mutation_p.R207Q|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Missense_Mutation_p.R207Q|ESR2_uc001xgz.2_Missense_Mutation_p.R207Q	NM_001437	NP_001428	Q92731	ESR2_HUMAN	Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.	207					cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GTAACACTTCCGAAGTCGGCA	0.478													12	90					0	0	0.105934	0	0	T	64735545	C	T	64735545	3	4	71	1	0	0	0	0	1	0	0	0	5257	652	23	2	1082	2	ESR2	14	64735545	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08		64735545	42613995	43	3040											
TC2N	123036	broad.mit.edu	37	chr14	92268712	92268712	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcatagctaggtccgtgctGggatgaactggaaagttcta	11	11	12	7	1	2	1	1	1	1	0	3	3	3	3	1	3	3	3	1	3	5	4			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr14:92268712G>T	uc001xzu.4	-	3	546	c.355C>A	c.(355-357)Cag>Aag	p.Q119K	TC2N_uc001xzt.4_Missense_Mutation_p.Q119K|TC2N_uc010auc.3_Missense_Mutation_p.Q119K|TC2N_uc001xzv.4_Missense_Mutation_p.Q119K	NM_001128595	NP_689545	Q8N9U0	TAC2N_HUMAN	Homo sapiens tandem C2 domains, nuclear (TC2N), transcript variant 2, mRNA.	119						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		GGTCCGTGCTGGGATGAACTG	0.418													14	62					0.000151284	0.000160184	0.105934	1	0	T	92268712	G	T	92268712	3	4	71	1	0	0	0	0	1	0	0	0	15662	1357	47	5	1153	5	TC2N	14	92268712	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08	27533167	92268712	15080828	44	3041											
CLDN6	9074	broad.mit.edu	37	chr16	3065807	3065807	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcaggtcctgtggcagCgccagcagtgagtcgtacac	7	7	14	13	2	0	1	0	1	0	0	2	1	1	1	3	2	4	4	3	2	1	1			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr16:3065807C>T	uc021tbb.1	-	0	216	c.216G>A	c.(214-216)gcG>gcA	p.A72A	CLDN6_uc002csu.4_Silent_p.A72A	NM_021195	NP_067018	P56747	CLD6_HUMAN	Homo sapiens claudin 6 (CLDN6), mRNA.	72					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						CCTGTGGCAGCGCCAGCAGTG	0.642													22	28					0	0	0.055883	0	0	T	3065807	C	T	3065807	2	4	71	1	0	0	0	0	0	0	0	1	3489	755	27	1		1	CLDN6	16	3065807	Silent	SNP	C	TCGA-DU-6399-01A-12D-1705-08		3065807	87288946	45	3042											
UBN1	29855	broad.mit.edu	37	chr16	4927426	4927426	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcccgccccatgcagcGcctctcccacacgctgcggt	5	6	9	21	4	1	0	0	0	1	0	3	0	2	0	6	1	4	2	6	1	0	0			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr16:4927426G>A	uc002cyb.3	+	16	3645	c.3306G>A	c.(3304-3306)gcG>gcA	p.A1102A	UBN1_uc010uxw.2_Intron|UBN1_uc002cyc.3_Silent_p.A1102A	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	1102					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CCCATGCAGCGCCTCTCCCAC	0.592													10	214					0	0	0.105934	0	0	A	4927426	G	A	4927426	2	1	71	1	0	0	0	0	0	0	0	1	16889	1074	38	1		1	UBN1	16	4927426	Silent	SNP	G	TCGA-DU-6399-01A-12D-1705-08	1861619	4927426	85427327	46	3043											
GRIN2A	2903	broad.mit.edu	37	chr16	9928049	9928049	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagaaacaatgagcagcaTcacaaacatcatcacccaga	18	4	7	12	0	3	3	3	1	0	2	3	3	3	3	1	1	4	3	1	1	3	0			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr16:9928049T>A	uc010uym.2	-	8	2000	c.1690A>T	c.(1690-1692)Atg>Ttg	p.M564L	GRIN2A_uc002czo.4_Missense_Mutation_p.M564L|GRIN2A_uc010uyn.2_Missense_Mutation_p.M407L|GRIN2A_uc002czr.4_Missense_Mutation_p.M564L	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	564					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGAGCAGCATCACAAACATC	0.428													4	128					0	0	0.150653	0	0	A	9928049	T	A	9928049	3	1	71	1	0	0	0	0	1	0	0	0	6779	1435	50	5	2728	5	GRIN2A	16	9928049	Missense_Mutation	SNP	T	TCGA-DU-6399-01A-12D-1705-08	5000623	9928049	80426704	47	3044											
TNRC6A	27327	broad.mit.edu	37	chr16	24802267	24802267	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactcaggggcatgtatagaTaagactagccctaatggtaa	15	9	10	7	0	1	2	1	0	0	2	1	2	1	2	1	3	2	3	1	3	7	6			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr16:24802267T>C	uc002dmm.3	+	5	2418	c.2304T>C	c.(2302-2304)gaT>gaC	p.D768D	TNRC6A_uc010bxs.3_Silent_p.D515D|TNRC6A_uc010vcc.1_Silent_p.D515D|TNRC6A_uc002dmn.3_Silent_p.D515D|TNRC6A_uc002dmo.3_Silent_p.D515D	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	768	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CATGTATAGATAAGACTAGCC	0.498													10	34					0	0	0.09319	0	0	C	24802267	T	C	24802267	2	2	71	1	0	0	0	0	0	0	0	1	16337	1403	49	3		3	TNRC6A	16	24802267	Silent	SNP	T	TCGA-DU-6399-01A-12D-1705-08	14874218	24802267	65552486	48	3045											
ANKRD11	29123	broad.mit.edu	37	chr16	89348536	89348536	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcccggtgcctctccttctCgtctctccatttctccctgt	1	16	6	18	2	4	0	0	0	4	0	10	0	6	0	5	1	1	0	5	1	0	2			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr16:89348536C>T	uc002fmx.1	-	8	4875	c.4414G>A	c.(4414-4416)Gag>Aag	p.E1472K	ANKRD11_uc002fmy.1_Missense_Mutation_p.E1472K|ANKRD11_uc002fnc.1_Missense_Mutation_p.E1472K|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.E1429K	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1472	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		ctctccttctcgtctctccat	0.532													10	31					0	0	0.058154	0	0	T	89348536	C	T	89348536	3	4	71	1	0	0	0	0	1	0	0	0	639	893	31	2	3597	2	ANKRD11	16	89348536	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08	64546269	89348536	1006217	49	3046											
TP53	7157	broad.mit.edu	37	chr17	7577081	7577099	+	Frame_Shift_Del	DEL	TCCTCTGTGCGCCGGTCTC	TCCTCTGTGCGCCGGTCTC	-																															ctttcttgcggagattctctTcctctgtgcgccggtctctc																								rs28934574	byFrequency	TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr17:7577081_7577099delTCCTCTGTGCGCCGGTCTC	uc002gim.2	-	7	1033_1051	c.839_857delGAGACCGGCGCACAGAGGA	c.(838-858)agagaccggcgcacagaggaafs	p.R280fs	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Frame_Shift_Del_p.R280fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.R148fs|TP53_uc010cnf.1_Frame_Shift_Del_p.R148fs|TP53_uc002gii.1_Frame_Shift_Del_p.R148fs|TP53_uc010cni.1_Frame_Shift_Del_p.R280fs|TP53_uc010cnh.1_Frame_Shift_Del_p.R280fs|TP53_uc002gij.2_Frame_Shift_Del_p.R280fs|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.	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(805)|p.E285K(218)|p.R280T(126)|p.E286K(114)|p.R280K(96)|p.R282G(57)|p.D281E(56)|p.R283P(51)|p.R282Q(51)|p.D281N(51)|p.E285*(44)|p.E286*(40)|p.D281H(38)|p.R283C(35)|p.E286G(34)|p.R282P(33)|p.G279E(31)|p.R280I(30)|p.R280S(30)|p.E285V(29)|p.D281Y(27)|p.R283H(26)|p.D281G(20)|p.R282R(19)|p.R280G(19)|p.E286V(17)|p.T284P(17)|p.E285G(10)|p.E286Q(10)|p.D281D(10)|p.D281V(9)|p.E285Q(8)|p.R283R(8)|p.R283L(8)|p.R280*(8)|p.R280fs*65(8)|p.R283fs*62(8)|p.G279R(8)|p.0?(8)|p.R282fs*24(7)|p.E285E(6)|p.T284T(6)|p.R282L(6)|p.R280R(6)|p.T284A(6)|p.R282H(5)|p.R283G(4)|p.E285A(4)|p.D281fs*63(4)|p.E286fs*59(4)|p.D281_R282>EW(4)|p.D281A(4)|p.T284fs*21(4)|p.R280_D281delRD(4)|p.R283fs*16(4)|p.E286fs*17(4)|p.T284fs*61(4)|p.T284fs*62(4)|p.R283fs*63(4)|p.G279V(4)|p.R283fs*23(3)|p.D281>AGPY(3)|p.G279G(3)|p.R283S(2)|p.G279fs*59(2)|p.D281_R282insXX(2)|p.G279_R280delGR(2)|p.F270_D281del12(2)|p.R283fs*56(2)|p.E286D(2)|p.E286E(2)|p.E286A(2)|p.R283fs*59(2)|p.G279fs*27(2)|p.E285_N288delEEEN(2)|p.R283del(2)|p.R283fs*22(2)|p.V272_K292del21(2)|p.D281R(2)|p.E285fs*60(2)|p.A276_R283delACPGRDRR(2)|p.R280fs*62(2)|p.T284_G293del10(2)|p.D281fs*24(2)|p.E285fs*13(2)|p.T284I(2)|p.L265_K305del41(2)|p.R283_T284>T(2)|p.R282fs*63(2)|p.G279fs*65(2)|p.E285_L289delEEENL(2)|p.G279W(2)|p.R282_E287delRRTEEE(2)|p.C275_R283delCACPGRDRR(2)|p.?(2)|p.T284fs*57(2)|p.D281_R282delDR(2)|p.E285fs*20(2)|p.P278_G279insXXXXX(1)|p.C275fs*20(1)|p.G279fs*26(1)|p.A276fs*64(1)|p.S269fs*21(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)		GAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACA	0.553		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)			15	48	---	---	---	---						-	7577099	TCCTCTGTGCGCCGGTCTC	-	7577081	7	5	71	1	0	1	0	1	0	0	0	0	16378	1783	62	0	429	0	TP53	17	7577081	Frame_Shift_Del	DEL	TCCTCTGTGCGCCGGTCTC	TCGA-DU-6399-01A-12D-1705-08		7577081	73618129	50	3047											
TP53	7157	broad.mit.edu	37	chr17	7578554	7578554	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgttgagggcaggggagtActgtaggaagaggaaggaga	12	7	19	3	0	0	3	0	1	0	2	0	7	0	6	0	6	1	4	0	6	4	4			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr17:7578554A>C	uc002gim.2	-	5	570	c.376_splice	c.e5-1	p.Y126_splice	TP53_uc002gig.1_Splice_Site_p.Y126_splice|TP53_uc002gih.3_Splice_Site_p.Y126_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Splice_Site_p.Y126_splice|TP53_uc010cnh.1_Splice_Site_p.Y126_splice|TP53_uc002gij.2_Splice_Site_p.Y126_splice|TP53_uc010cnj.1_Splice_Site|TP53_uc002gin.2_Splice_Site_p.Y33_splice|TP53_uc002gio.2_Splice_Site|TP53_uc010vug.2_Splice_Site_p.Y87_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	126	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y126D(9)|p.0?(8)|p.Y126N(6)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.Y33D(2)|p.V73fs*9(1)|p.?(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)|p.Y126fs*18(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)		GCAGGGGAGTACTGTAGGAAG	0.557		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)			8	15					0	0	0.038147	0	0	C	7578554	A	C	7578554	5	2	71	1	0	0	0	0	0	0	1	0	16378	405	14	5	922	5	TP53	17	7578554	Splice_Site	SNP	A	TCGA-DU-6399-01A-12D-1705-08	1473	7578554	73616656	51	3048											
DNAH2	146754	broad.mit.edu	37	chr17	7662866	7662866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acggggatggaaagaccagcCcaaacccactcttccaagtc	13	5	9	14	1	1	1	0	0	1	1	3	3	2	3	4	3	2	0	4	3	3	1			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr17:7662866C>T	uc002giu.1	+	14	2589	c.2575C>T	c.(2575-2577)Cca>Tca	p.P859S		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	859	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AAAGACCAGCCCAAACCCACT	0.502													26	35					0	0	0.108266	0	0	T	7662866	C	T	7662866	3	4	71	1	0	0	0	0	1	0	0	0	4602	623	22	3	2633	3	DNAH2	17	7662866	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08	84312	7662866	73532344	52	3049											
DNAH9	1770	broad.mit.edu	37	chr17	11827172	11827172	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacaatcagaactttcacAacgtgtctttggggcaagga	13	10	9	9	1	4	1	3	0	1	1	4	2	4	2	0	3	3	1	0	3	5	2			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr17:11827172A>G	uc002gne.3	+	61	11859	c.11791A>G	c.(11791-11793)Aac>Gac	p.N3931D	DNAH9_uc010coo.3_Missense_Mutation_p.N3225D|DNAH9_uc002gnf.3_Missense_Mutation_p.N243D|DNAH9_uc010vvh.1_Missense_Mutation_p.N284D	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3931	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAACTTTCACAACGTGTCTTT	0.458													11	53					0	0	0.069234	0	0	G	11827172	A	G	11827172	3	3	71	1	0	0	0	0	1	0	0	0	4608	130	5	3	12037	3	DNAH9	17	11827172	Missense_Mutation	SNP	A	TCGA-DU-6399-01A-12D-1705-08	4164306	11827172	69368038	53	3050											
ULK2	9706	broad.mit.edu	37	chr17	19720091	19720091	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacgagatgttgtgtggcAccaaaacaaagtcatccgtg	12	9	11	9	2	1	2	1	1	0	1	2	3	2	2	2	1	1	2	2	1	3	1			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr17:19720091A>C	uc002gwm.4	-	12	1576	c.1067T>G	c.(1066-1068)gTg>gGg	p.V356G	ULK2_uc002gwn.3_Missense_Mutation_p.V356G	NM_001142610	NP_055498	Q8IYT8	ULK2_HUMAN	Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA.	356					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GTTGTGTGGCACCAAAACAAA	0.398													37	44					0	0	0.104719	0	0	C	19720091	A	C	19720091	3	2	71	1	0	0	0	0	1	0	0	0	16973	159	6	5	2103	5	ULK2	17	19720091	Missense_Mutation	SNP	A	TCGA-DU-6399-01A-12D-1705-08	7892919	19720091	61475119	54	3051											
LRRC37A2	474170	broad.mit.edu	37	chr17	45127107	45127107	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctacaccaagccttcgttcaCccaagagcataaggcagcag	13	6	8	14	1	1	1	1	0	0	1	2	1	1	1	3	1	4	4	3	1	4	4	rs147409399	by1000genomes	TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr17:45127107C>G	uc010wkj.1	+	1	659	c.305C>G	c.(304-306)aCc>aGc	p.T102S	ARL17_uc021tzb.1_Intron|DQ597730_uc010wkl.2_Non-coding_Transcript			A6NM11	L37A2_HUMAN	Homo sapiens cDNA FLJ42521 fis, clone BRACE3000973.	1238						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		CCTTCGTTCACCCAAGAGCAT	0.592													3	64					0	0	0.115264	0	0	G	45127107	C	G	45127107	3	3	71	1	0	0	0	0	1	0	0	0	8992	522	18	5		5	LRRC37A2	17	45127107	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08	25407016	45127107	36068103	55	3052											
C18orf1	753	broad.mit.edu	37	chr18	13645353	13645353	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcaaccgagagtccgtgagGgccccacccaaccgaaccat	11	4	9	17	3	1	2	1	1	0	1	2	4	2	2	7	1	3	0	7	1	3	0			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr18:13645353G>A	uc002ksa.2	+	6	1286	c.618G>A	c.(616-618)agG>agA	p.R206R	C18orf1_uc002ksb.2_Silent_p.R188R|C18orf1_uc002kse.2_Silent_p.R169R|C18orf1_uc002ksf.2_Silent_p.R151R|C18orf1_uc002ksg.1_Silent_p.R129R|C18orf1_uc002ksh.1_Silent_p.R148R|C18orf1_uc002ksi.1_Silent_p.R130R	NM_181481	NP_852146	O15165	CR001_HUMAN	Homo sapiens chromosome 18 open reading frame 1 (C18orf1), transcript variant a1, mRNA.	206						integral to membrane|plasma membrane		p.R206W(2)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				READ - Rectum adenocarcinoma(73;0.0642)		AGTCCGTGAGGGCCCCACCCA	0.582													8	71					0	0	0.047766	0	0	A	13645353	G	A	13645353	2	1	71	1	0	0	0	0	0	0	0	1	1894	1223	43	3		3	C18orf1	18	13645353	Silent	SNP	G	TCGA-DU-6399-01A-12D-1705-08		13645353	64431895	56	3053											
SERPINB7	8710	broad.mit.edu	37	chr18	61465877	61465877	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaaggtggcataagctCatctgctgtaatggtgctgg	8	12	15	6	0	2	1	1	1	1	0	2	1	2	1	0	5	3	5	0	5	3	2			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr18:61465877C>A	uc002ljl.3	+	5	590	c.494C>A	c.(493-495)tCa>tAa	p.S165*	SERPINB7_uc002ljm.3_Nonsense_Mutation_p.S165*|SERPINB7_uc010xet.2_Nonsense_Mutation_p.S148*|SERPINB7_uc010dqg.3_Nonsense_Mutation_p.S165*	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	165					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GGCATAAGCTCATCTGCTGTA	0.353													6	86					8.12818e-05	8.70877e-05	0.02938	1	0	A	61465877	C	A	61465877	4	1	71	1	0	0	0	0	0	1	0	0	14106	838	29	5	512	5	SERPINB7	18	61465877	Nonsense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08	47820524	61465877	16611371	57	3054											
REEP6	92840	broad.mit.edu	37	chr19	1495534	1495534	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcacctactgggtggtgtaCgccctgtttgggctggccga	4	11	14	12	2	1	0	1	0	0	0	1	1	1	0	3	4	2	3	3	4	2	3			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:1495534C>T	uc002ltc.3	+	2	380	c.276C>T	c.(274-276)taC>taT	p.Y92Y	REEP6_uc010xgp.2_Silent_p.Y92Y	NM_138393	NP_612402	Q96HR9	REEP6_HUMAN	Homo sapiens receptor accessory protein 6 (REEP6), mRNA.	92						integral to membrane				lung(1)|ovary(1)	2		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		GGGTGGTGTACGCCCTGTTTG	0.622													5	68					0	0	0.021553	0	0	T	1495534	C	T	1495534	2	4	71	1	0	0	0	0	0	0	0	1	13209	547	19	1		1	REEP6	19	1495534	Silent	SNP	C	TCGA-DU-6399-01A-12D-1705-08		1495534	57633449	58	3055											
PTPRS	5802	broad.mit.edu	37	chr19	5218496	5218496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtggtgaggggcgaggtcgGcattgttcaggaggcatttg	6	10	20	5	2	1	1	1	1	0	0	2	3	1	2	0	8	0	3	0	8	0	3			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:5218496G>A	uc002mbv.3	-	24	4217	c.3983C>T	c.(3982-3984)gCc>gTc	p.A1328V	PTPRS_uc002mbu.1_Missense_Mutation_p.A897V|PTPRS_uc010xin.2_Missense_Mutation_p.A897V|PTPRS_uc002mbw.3_Missense_Mutation_p.A1306V|PTPRS_uc002mbx.3_Missense_Mutation_p.A901V|PTPRS_uc002mby.3_Missense_Mutation_p.A897V	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1328					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGCGAGGTCGGCATTGTTCAG	0.527													5	251					0	0	0.021553	0	0	A	5218496	G	A	5218496	3	1	71	1	0	0	0	0	1	0	0	0	12811	1203	42	3	1919	3	PTPRS	19	5218496	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08	3722962	5218496	53910487	59	3056											
C3	718	broad.mit.edu	37	chr19	6678249	6678249	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagggcttctctgcacttGatggggctgatgaacgtgcg	6	12	14	9	2	2	3	1	3	1	0	3	3	2	3	0	3	3	3	0	3	1	3			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:6678249G>T	uc002mfm.3	-	39	4826	c.4764C>A	c.(4762-4764)atC>atA	p.I1588I		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1588	NTR.				G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTCTGCACTTGATGGGGCTGA	0.587													7	29					2.7689e-08	3.15444e-08	0.02938	1	0	T	6678249	G	T	6678249	2	4	71	1	0	0	0	0	0	0	0	1	2204	1280	45	5		5	C3	19	6678249	Silent	SNP	G	TCGA-DU-6399-01A-12D-1705-08	1459753	6678249	52450734	60	3057											
MUC16	94025	broad.mit.edu	37	chr19	9070400	9070400	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttggaggtgaactcgttacGggctctgggcttgttgtgcc	4	14	15	8	2	1	1	0	1	1	0	2	2	1	2	1	4	3	4	1	4	2	4			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:9070400G>A	uc002mkp.3	-	2	17250	c.17046C>T	c.(17044-17046)ccC>ccT	p.P5682P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5684	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P5682P(3)|p.P1315P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AACTCGTTACGGGCTCTGGGC	0.512													18	27					0	0	0.175082	0	0	A	9070400	G	A	9070400	2	1	71	1	0	0	0	0	0	0	0	1	9973	1103	39	2		2	MUC16	19	9070400	Silent	SNP	G	TCGA-DU-6399-01A-12D-1705-08	2392151	9070400	50058583	61	3058											
SLC17A7	57030	broad.mit.edu	37	chr19	49933968	49933968	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcatctcctcaggctctgcCcacggctgcttctctccaga	5	11	7	18	1	5	1	2	0	3	1	8	1	6	1	3	2	2	3	3	2	0	1			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:49933968C>G	uc002pnp.3	-	11	1663	c.1491G>C	c.(1489-1491)tgG>tgC	p.W497C	SLC17A7_uc002pno.3_Missense_Mutation_p.W159C	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 (SLC17A7), mRNA.	497					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CAGGCTCTGCCCACGGCTGCT	0.587													4	52					0	0	0.150653	0	0	G	49933968	C	G	49933968	3	3	71	1	0	0	0	0	1	0	0	0	14422	624	22	5	195	5	SLC17A7	19	49933968	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08	40863568	49933968	9195015	62	3059											
TMEM150B	284417	broad.mit.edu	37	chr19	55828207	55828207	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcccaggcggaggggcccaAtccaggcagccccgggctgg	6	2	18	15	2	0	0	0	0	0	0	1	1	1	1	5	8	1	2	5	8	1	0			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:55828207A>G	uc010esw.1	-	6	625	c.452T>C	c.(451-453)aTt>aCt	p.I151T	TMEM150B_uc010yfu.1_Missense_Mutation_p.I151T|TMEM150B_uc010yfv.1_Non-coding_Transcript|TMEM150B_uc010yfw.1_Non-coding_Transcript	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN	Homo sapiens transmembrane protein 150B (TMEM150B), mRNA.	151						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						GAGGGGCCCAATCCAGGCAGC	0.627													2	2					0	0	0.115264	0	0	G	55828207	A	G	55828207	3	3	71	1	0	0	0	0	1	0	0	0	16065	101	4	3	257	3	TMEM150B	19	55828207	Missense_Mutation	SNP	A	TCGA-DU-6399-01A-12D-1705-08	5894239	55828207	3300776	63	3060											
A1BG	1	broad.mit.edu	37	chr19	58863737	58863737	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgtagttgccaggctgAtggactggaaaggtggcctc	8	9	15	9	0	0	1	0	1	0	0	1	3	0	3	2	5	2	4	2	5	2	2			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:58863737A>G	uc002qsd.4	-	3	587	c.525T>C	c.(523-525)caT>caC	p.H175H	A1BG-AS1_uc002qse.3_Intron|A1BG_uc002qsf.2_Non-coding_Transcript|A1BG-AS1_uc002qsg.3_Non-coding_Transcript	NM_130786	NP_570602	P04217	A1BG_HUMAN	Homo sapiens alpha-1-B glycoprotein (A1BG), mRNA.	175	Ig-like V-type 2.					extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		TGCCAGGCTGATGGACTGGAA	0.622													3	95					0	0	0.150653	0	0	G	58863737	A	G	58863737	2	3	71	1	0	0	0	0	0	0	0	1	1	330	12	3		3	A1BG	19	58863737	Silent	SNP	A	TCGA-DU-6399-01A-12D-1705-08	3035530	58863737	265246	64	3061											
AURKA	6790	broad.mit.edu	37	chr20	54956513	54956513	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagttctctgctcatcaaaCtttgaaagtttctgaagttc	10	15	7	9	0	4	2	2	2	2	0	6	2	4	2	0	0	2	5	0	0	3	4			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr20:54956513C>A	uc002xxe.1	-	6	938	c.681G>T	c.(679-681)aaG>aaT	p.K227N	AURKA_uc002xxf.1_Missense_Mutation_p.K227N|AURKA_uc002xxg.1_Missense_Mutation_p.K227N|AURKA_uc002xxh.1_Missense_Mutation_p.K227N|AURKA_uc002xxi.1_Missense_Mutation_p.K227N|AURKA_uc002xxj.1_Missense_Mutation_p.K227N|AURKA_uc010zzd.1_Non-coding_Transcript|AURKA_uc002xxd.1_Missense_Mutation_p.K227N	NM_198434	NP_940839	O14965	AURKA_HUMAN	Homo sapiens aurora kinase A (AURKA), transcript variant 3, mRNA.	227	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			GCTCATCAAACTTTGAAAGTT	0.373													15	81					9.16793e-09	1.05784e-08	0.160694	1	0	A	54956513	C	A	54956513	3	1	71	1	0	0	0	0	1	0	0	0	1221	564	20	5	546	5	AURKA	20	54956513	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08		54956513	8069007	65	3062											
TPTE	7179	broad.mit.edu	37	chr21	10908895	10908895	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatagtatgtaggaagatTctaaaaagaaaaaaaaattt	21	11	7	2	0	2	2	1	0	1	2	2	3	2	3	0	1	0	2	0	1	11	6			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr21:10908895T>C	uc002yip.1	-	23	1818	c.1450_splice	c.e23-1	p.N484_splice	TPTE_uc002yis.1_Splice_Site|TPTE_uc002yiq.1_Splice_Site_p.N466_splice|TPTE_uc002yir.1_Splice_Site_p.N446_splice|TPTE_uc010gkv.1_Splice_Site_p.N346_splice	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	484	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTAGGAAGATTCTAAAAAGAA	0.254													3	36					0	0	0.184627	0	0	C	10908895	T	C	10908895	5	2	71	1	0	0	0	0	0	0	1	0	16427	1797	62	3	213	3	TPTE	21	10908895	Splice_Site	SNP	T	TCGA-DU-6399-01A-12D-1705-08		10908895	37221000	66	3063											
IFNAR2	3455	broad.mit.edu	37	chr21	34625023	34625023	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcacctatatcattgacaaGttaattccaaacacgaacta	16	12	3	10	1	2	1	2	1	0	0	3	2	3	1	2	0	2	1	2	0	7	7			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr21:34625023G>A	uc002yrd.3	+	6	925	c.597G>A	c.(595-597)aaG>aaA	p.K199K	IFNAR2_uc002yrb.3_Silent_p.K199K|IFNAR2_uc002yrc.3_Silent_p.K199K|IFNAR2_uc002yre.3_Silent_p.K199K|IFNAR2_uc002yrf.3_Silent_p.K199K|IFNAR2_uc002yri.1_5'UTR|IFNAR2_uc002yrh.1_Silent_p.K49K	NM_207585	NP_997468	P48551	INAR2_HUMAN	Homo sapiens interferon (alpha, beta and omega) receptor 2 (IFNAR2), transcript variant 1, mRNA.	199					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TCATTGACAAGTTAATTCCAA	0.353													29	31					0	0	0.144211	0	0	A	34625023	G	A	34625023	2	1	71	1	0	0	0	0	0	0	0	1	7545	1020	36	3		3	IFNAR2	21	34625023	Silent	SNP	G	TCGA-DU-6399-01A-12D-1705-08	23716128	34625023	13504872	67	3064											
KRTAP12-2	353323	broad.mit.edu	37	chr21	46086744	46086744	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcacacaacaggctggctgGcaggggctgggcgcgcagca	8	3	18	12	2	0	0	0	0	0	0	0	0	0	0	0	7	2	7	0	7	1	0			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr21:46086744G>A	uc002zfu.3	-	0	101	c.60C>T	c.(58-60)tgC>tgT	p.C20C	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181684	NP_859012	P59991	KR122_HUMAN	Homo sapiens keratin associated protein 12-2 (KRTAP12-2), mRNA.	20	23 X 5 AA approximate repeats.					keratin filament				central_nervous_system(1)|endometrium(1)|lung(3)	5						AGGCTGGCTGGCAGGGGCTGG	0.667													11	11					0	0	0.105934	0	0	A	46086744	G	A	46086744	2	1	71	1	0	0	0	0	0	0	0	1	8519	1195	42	3		3	KRTAP12-2	21	46086744	Silent	SNP	G	TCGA-DU-6399-01A-12D-1705-08	11461721	46086744	2043151	68	3065											
ZNF280A	129025	broad.mit.edu	37	chr22	22869695	22869695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcacatgatttgcaggctgcGacacgtgagcaggatattga	11	10	12	8	2	1	3	1	3	0	0	1	5	1	4	0	2	3	3	0	2	1	3			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr22:22869695G>A	uc002zwe.3	-	1	513	c.260C>T	c.(259-261)tCg>tTg	p.S87L	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Missense_Mutation_p.S87L	NM_080740	NP_542778	P59817	Z280A_HUMAN	Homo sapiens zinc finger protein 280A (ZNF280A), mRNA.	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TGCAGGCTGCGACACGTGAGC	0.468													21	90					0	0	0.076483	0	0	A	22869695	G	A	22869695	3	1	71	1	0	0	0	0	1	0	0	0	17811	1059	37	2	1372	2	ZNF280A	22	22869695	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08		22869695	28434871	69	3066											
FAM48B1	100130302	broad.mit.edu	37	chrX	24381605	24381605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acggtgcctccagaggtattCgtggccctctgtaaagccac	8	9	11	13	2	1	1	0	0	1	1	3	1	2	1	4	3	2	2	4	3	3	3			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chrX:24381605C>T	uc011mjx.2	+	0	728	c.728C>T	c.(727-729)tCg>tTg	p.S243L		NM_001136234	NP_001129706			Homo sapiens family with sequence similarity 48, member B1 (FAM48B1), mRNA.											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(1)|skin(1)	26						CAGAGGTATTCGTGGCCCTCT	0.507													5	45					0	0	0.184627	0	0	T	24381605	C	T	24381605	3	4	71	1	0	0	0	0	1	0	0	0	5573	893	31	2	730	2	FAM48B1	23	24381605	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08		24381605	130888955	70	3067											
DMD	1756	broad.mit.edu	37	chrX	32380909	32380909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagtagatcttcctacctttCcagtcttaattctgtgtgaa	9	16	7	9	0	3	2	0	1	3	1	5	3	5	2	3	0	1	1	3	0	4	6			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chrX:32380909C>T	uc004dda.1	-	36	5565	c.5321G>A	c.(5320-5322)gGa>gAa	p.G1774E	DMD_uc004dcw.2_Missense_Mutation_p.G430E|DMD_uc004dcx.2_Missense_Mutation_p.G433E|DMD_uc004dcz.2_Missense_Mutation_p.G1651E|DMD_uc004dcy.1_Missense_Mutation_p.G1770E|DMD_uc004ddb.1_Missense_Mutation_p.G1766E|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1774	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCCTACCTTTCCAGTCTTAAT	0.483													16	26					0	0	0.146539	0	0	T	32380909	C	T	32380909	3	4	71	1	0	0	0	0	1	0	0	0	4580	855	30	3	6056	3	DMD	23	32380909	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08	7999304	32380909	122889651	71	3068											
ATRX	546	broad.mit.edu	37	chrX	76939864	76939864	+	Frame_Shift_Del	DEL	T	T	-																															tgtcaacttttatcttcttcTtattttgctgcaacaactgt																										TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chrX:76939864delT	uc004ecp.4	-	8	1116	c.884delA	c.(883-885)aagfs	p.K295fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K257fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K80fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K256fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K295fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K240fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	295	ADD.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TATCTTCTTCTTATTTTGCTG	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						85	11	---	---	---	---						-	76939864	T	-	76939864	7	5	71	1	0	1	0	1	0	0	0	0	1208	1609	56	0	6702	0	ATRX	23	76939864	Frame_Shift_Del	DEL	T	TCGA-DU-6399-01A-12D-1705-08	44558955	76939864	78330696	72	3069											
MCF2	4168	broad.mit.edu	37	chrX	138678852	138678852	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagccaaatccttcattttTgtagcacctttcttgtgccc	7	16	5	13	0	2	0	1	0	1	0	3	0	3	0	4	0	3	2	4	0	3	7			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chrX:138678852T>C	uc011mwn.1	-	21	2574	c.2568A>G	c.(2566-2568)acA>acG	p.T856T	MCF2_uc004fav.3_Silent_p.T727T|MCF2_uc004fau.3_Silent_p.T711T|MCF2_uc010nsh.2_Silent_p.T711T|MCF2_uc011mwm.2_Silent_p.T672T|MCF2_uc011mwl.2_Silent_p.T688T|MCF2_uc011mwo.1_Silent_p.T787T|MCF2_uc004faw.2_Silent_p.T771T|Mir_548_uc022cfd.1_5'Flank	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	711					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	Rho guanyl-nucleotide exchange factor activity|protein binding			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CCTTCATTTTTGTAGCACCTT	0.398													30	46					0	0	0.144211	0	0	C	138678852	T	C	138678852	2	2	71	1	0	0	0	0	0	0	0	1	9378	1799	63	3		3	MCF2	23	138678852	Silent	SNP	T	TCGA-DU-6399-01A-12D-1705-08	61738988	138678852	16591708	73	3070											
LRRC8B	23507	broad.mit.edu	37	chr1	90048483	90048483	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgcttccgctccccctcCgaattcagaatgacctccac	8	8	5	20	3	1	2	1	1	0	1	5	3	5	2	7	0	0	2	7	0	2	2			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr1:90048483C>T	uc001dni.3	+	6	781	c.274C>T	c.(274-276)Cga>Tga	p.R92*	LRRC8B_uc001dnh.3_Nonsense_Mutation_p.R92*|LRRC8B_uc001dnj.3_Nonsense_Mutation_p.R92*	NM_001134476	NP_056165	Q6P9F7	LRC8B_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member B (LRRC8B), transcript variant 2, mRNA.	92						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		GCTCCCCCTCCGAATTCAGAA	0.498													53	9					0	0	0.048971	0	0	T	90048483	C	T	90048483	4	4	72	1	0	0	0	0	0	1	0	0	9022	644	23	2	276	2	LRRC8B	1	90048483	Nonsense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08		90048483	159202138	1	3071											
FCRL3	115352	broad.mit.edu	37	chr1	157667654	157667654	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctttcccctgacatctCagaatgacattgtctccttc	7	16	5	13	0	3	3	1	2	3	1	7	3	4	3	3	0	0	0	3	0	1	4			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr1:157667654C>A	uc001fqz.4	-	4	646	c.354G>T	c.(352-354)ctG>ctT	p.L118L	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_5'UTR|FCRL3_uc001frb.3_Silent_p.L118L|FCRL3_uc001frc.1_Silent_p.L118L	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	118	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CCTGACATCTCAGAATGACAT	0.423													3	86					6.4e-05	6.67429e-05	0.004672	1	0	A	157667654	C	A	157667654	2	1	72	1	0	0	0	0	0	0	0	1	5796	813	29	5		5	FCRL3	1	157667654	Silent	SNP	C	TCGA-DU-6400-01A-12D-1705-08	67619171	157667654	91582967	2	3072											
APOB	338	broad.mit.edu	37	chr2	21230714	21230714	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccttcccttctccaaacAgtgccatgcctttagcagtt	7	13	6	15	0	1	0	0	0	1	0	3	0	2	0	5	0	5	2	5	0	2	5			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr2:21230714A>T	uc002red.3	-	25	9154	c.9026T>A	c.(9025-9027)cTg>cAg	p.L3009Q		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3009					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.F3010fs*15(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTCTCCAAACAGTGCCATGCC	0.418													12	50					0	0	0.080935	0	0	T	21230714	A	T	21230714	3	4	72	1	0	0	0	0	1	0	0	0	785	188	7	5	4681	5	APOB	2	21230714	Missense_Mutation	SNP	A	TCGA-DU-6400-01A-12D-1705-08		21230714	221968659	3	3073											
PPIG	9360	broad.mit.edu	37	chr2	170460747	170460747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgtgtgccccaaaacatgcGagaactttcgttgtctttgt	9	14	9	9	2	1	1	0	0	1	1	2	2	1	1	2	0	4	1	2	0	3	3			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr2:170460747G>A	uc002uez.3	+	3	332	c.112G>A	c.(112-114)Gag>Aag	p.E38K	PPIG_uc010fpx.3_Missense_Mutation_p.E38K|PPIG_uc010fpy.3_Intron|PPIG_uc002ufa.3_Missense_Mutation_p.E38K|PPIG_uc002ufb.3_Missense_Mutation_p.E38K|PPIG_uc002ufc.1_Missense_Mutation_p.E38K|PPIG_uc002ufd.3_Missense_Mutation_p.E38K	NM_004792	NP_004783	Q13427	PPIG_HUMAN	Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA.	38	PPIase cyclophilin-type.				RNA splicing|protein folding	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CAAAACATGCGAGAACTTTCG	0.343													28	94					0	0	0.050027	0	0	A	170460747	G	A	170460747	3	1	72	1	0	0	0	0	1	0	0	0	12324	1059	37	2	118	2	PPIG	2	170460747	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08	149230033	170460747	72738626	4	3074											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								29	44					0	0	0.059317	0	0	T	209113112	C	T	209113112	3	4	72	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08	38652365	209113112	34086261	5	3075											
SLC11A1	6556	broad.mit.edu	37	chr2	219258872	219258872	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgtgctgcccatcctcacGttcaccagcatgcccaccct	6	8	7	20	2	2	0	2	0	0	0	3	0	3	0	6	0	4	3	6	0	0	1			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr2:219258872G>A	uc002vhv.3	+	12	1684	c.1344G>A	c.(1342-1344)acG>acA	p.T448T	SLC11A1_uc010zkc.1_Silent_p.T381T|SLC11A1_uc002vhu.1_Silent_p.T243T|SLC11A1_uc002vhw.3_Silent_p.T330T|SLC11A1_uc010fvr.3_Silent_p.T243T	NM_000578	NP_000569	P49279	NRAM1_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 (SLC11A1), mRNA.	448					L-arginine import|MHC class II biosynthetic process|T cell cytokine production|T cell proliferation involved in immune response|activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|mRNA stabilization|macrophage activation|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCATCCTCACGTTCACCAGCA	0.582													8	45					0	0	0.069234	0	0	A	219258872	G	A	219258872	2	1	72	1	0	0	0	0	0	0	0	1	14380	1132	40	1		1	SLC11A1	2	219258872	Silent	SNP	G	TCGA-DU-6400-01A-12D-1705-08	10145760	219258872	23940501	6	3076											
ULK4	54986	broad.mit.edu	37	chr3	41953050	41953050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tacctagtctgaaagagtgaCctagtggttgaccactcttg	10	12	10	9	0	2	4	0	3	2	1	2	4	2	4	3	1	1	1	3	1	4	5			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr3:41953050C>T	uc003ckv.4	-	9	1199	c.998G>A	c.(997-999)gGt>gAt	p.G333D	ULK4_uc003ckw.2_Missense_Mutation_p.G333D|ULK4_uc003ckx.1_Missense_Mutation_p.G333D	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA.	333							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GAAAGAGTGACCTAGTGGTTG	0.408													10	100					0	0	0.069234	0	0	T	41953050	C	T	41953050	3	4	72	1	0	0	0	0	1	0	0	0	16975	507	18	3	2941	3	ULK4	3	41953050	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08		41953050	156069380	7	3077											
CCDC13	152206	broad.mit.edu	37	chr3	42754752	42754752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagcaccacggtgcggtgtCgctcctcctgcagcttcctc	4	9	10	18	3	0	0	0	0	0	0	5	0	3	0	5	2	4	4	5	2	0	1			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr3:42754752C>T	uc003cly.4	-	13	1859	c.1775G>A	c.(1774-1776)cGa>cAa	p.R592Q		NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN	Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA.	592										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GGTGCGGTGTCGCTCCTCCTG	0.602													23	97					0	0	0.030593	0	0	T	42754752	C	T	42754752	3	4	72	1	0	0	0	0	1	0	0	0	2765	884	31	2	384	2	CCDC13	3	42754752	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08	801702	42754752	155267678	8	3078											
CBLB	868	broad.mit.edu	37	chr3	105495351	105495351	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgatttctgccagcatgTgactgaagataagggacagt	11	12	11	7	0	1	4	0	3	1	1	1	5	1	5	1	1	2	1	1	1	2	3			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr3:105495351T>A	uc003dwc.3	-	3	777	c.455A>T	c.(454-456)cAc>cTc	p.H152L	CBLB_uc011bhi.2_Missense_Mutation_p.H174L|CBLB_uc003dwd.2_Missense_Mutation_p.H152L|CBLB_uc003dwe.2_Missense_Mutation_p.H152L|CBLB_uc011bhj.1_Intron	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	152	4H.|Cbl-PTB.				NLS-bearing substrate import into nucleus|cell surface receptor linked signaling pathway	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TGCCAGCATGTGACTGAAGAT	0.378			Mis S		AML								15	95					0	0	0.028581	0	0	A	105495351	T	A	105495351	3	1	72	1	0	0	0	0	1	0	0	0	2701	1696	59	5	2557	5	CBLB	3	105495351	Missense_Mutation	SNP	T	TCGA-DU-6400-01A-12D-1705-08	62740599	105495351	92527079	9	3079											
NMD3	51068	broad.mit.edu	37	chr3	160952983	160952983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgcatcagaatacacttcGtatcaaagagattcatggtg	15	11	8	7	1	3	2	3	0	0	2	4	3	3	2	0	1	2	2	0	1	5	4			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr3:160952983G>A	uc003feb.1	+	6	679	c.560G>A	c.(559-561)cGt>cAt	p.R187H	NMD3_uc003fec.3_Missense_Mutation_p.R187H|NMD3_uc003fed.1_Missense_Mutation_p.R187H|NMD3_uc010hwh.3_Missense_Mutation_p.R7H	NM_015938	NP_057022	Q96D46	NMD3_HUMAN	Homo sapiens NMD3 homolog (S. cerevisiae) (NMD3), mRNA.	187					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			AATACACTTCGTATCAAAGAG	0.249													26	29					0	0	0.108266	0	0	A	160952983	G	A	160952983	3	1	72	1	0	0	0	0	1	0	0	0	10488	1145	40	1	582	1	NMD3	3	160952983	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08	55457632	160952983	37069447	10	3080											
TTC14	151613	broad.mit.edu	37	chr3	180327531	180327531	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaaaaggcataagaaacAtaagaggaaccgttcagagt	19	6	9	7	1	2	3	2	0	0	3	2	4	2	4	1	2	2	2	1	2	6	3			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr3:180327531A>G	uc003fkk.3	+	11	1646	c.1514A>G	c.(1513-1515)cAt>cGt	p.H505R	TTC14_uc003fkl.3_3'UTR|TTC14_uc003fkm.2_Missense_Mutation_p.H505R	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	Homo sapiens tetratricopeptide repeat domain 14 (TTC14), transcript variant 1, mRNA.	505	Ser-rich.						RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CATAAGAAACATAAGAGGAAC	0.413													17	54					0	0	0.0333	0	0	G	180327531	A	G	180327531	3	3	72	1	0	0	0	0	1	0	0	0	16678	217	8	3	1590	3	TTC14	3	180327531	Missense_Mutation	SNP	A	TCGA-DU-6400-01A-12D-1705-08	19374548	180327531	17694899	11	3081											
DSPP	1834	broad.mit.edu	37	chr4	88534157	88534157	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagggaatggaaaagacagTagtaataacagcaagggcca	18	4	13	6	0	0	1	0	0	0	1	0	3	0	3	1	3	2	4	1	3	7	3			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr4:88534157T>C	uc003hqu.3	+	3	939	c.819T>C	c.(817-819)agT>agC	p.S273S		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	273					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GAAAAGACAGTAGTAATAACA	0.438													22	24					0	0	0.055883	0	0	C	88534157	T	C	88534157	2	2	72	1	0	0	0	0	0	0	0	1	4782	1635	57	3		3	DSPP	4	88534157	Silent	SNP	T	TCGA-DU-6400-01A-12D-1705-08		88534157	102620119	12	3082											
PLEKHG4B	153478	broad.mit.edu	37	chr5	169649	169649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaccagcagcacttcctccGggagctggagcgctgccagc	7	5	12	17	2	0	0	0	0	0	0	2	2	2	2	5	2	6	4	5	2	0	1	rs139086978		TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr5:169649G>A	uc003jak.2	+	11	2653	c.2603G>A	c.(2602-2604)cGg>cAg	p.R868Q		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	868	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.R868Q(1)|p.R59Q(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CACTTCCTCCGGGAGCTGGAG	0.622													30	50					0	0	0.041601	0	0	A	169649	G	A	169649	3	1	72	1	0	0	0	0	1	0	0	0	12072	1116	39	2	2649	2	PLEKHG4B	5	169649	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08		169649	180745611	13	3083											
SLC6A3	6531	broad.mit.edu	37	chr5	1409936	1409936	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctggaactcatcgatgagcCcggtgatcactgactccata	10	9	10	12	2	2	3	2	3	0	0	4	5	3	4	2	2	2	1	2	2	2	1			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr5:1409936C>T	uc003jck.3	-	9	1424	c.1298G>A	c.(1297-1299)gGg>gAg	p.G433E		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	433					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		p.G433R(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	ATCGATGAGCCCGGTGATCAC	0.612													18	37					0	0	0.0333	0	0	T	1409936	C	T	1409936	3	4	72	1	0	0	0	0	1	0	0	0	14685	623	22	3	588	3	SLC6A3	5	1409936	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08	1240287	1409936	179505324	14	3084											
HEATR7B2	133558	broad.mit.edu	37	chr5	41004891	41004891	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttaccttgtgaggagccccGgatgctgtgttgccgagccc	5	11	13	12	2	0	1	0	1	0	0	0	4	0	3	5	2	5	2	5	2	1	4			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr5:41004891G>A	uc003jmj.4	-	35	4486	c.3996C>T	c.(3994-3996)tcC>tcT	p.S1332S	HEATR7B2_uc003jmi.4_Silent_p.S887S	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1332							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						GAGGAGCCCCGGATGCTGTGT	0.478													8	53					0	0	0.047766	0	0	A	41004891	G	A	41004891	2	1	72	1	0	0	0	0	0	0	0	1	7035	1103	39	2		2	HEATR7B2	5	41004891	Silent	SNP	G	TCGA-DU-6400-01A-12D-1705-08	39594955	41004891	139910369	15	3085											
CCDC99	54908	broad.mit.edu	37	chr5	169026067	169026067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctagatattgagcgaaaaCtttttgcaaatgaaagatgc	15	12	8	6	1	1	4	0	2	1	2	1	5	1	4	0	0	4	1	0	0	6	5			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr5:169026067C>T	uc003mae.4	+	9	1507	c.1228C>T	c.(1228-1230)Ctt>Ttt	p.L410F	CCDC99_uc010jjj.3_Missense_Mutation_p.L339F|CCDC99_uc011deq.2_Missense_Mutation_p.L227F|CCDC99_uc010jjk.3_Missense_Mutation_p.L136F	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	Homo sapiens coiled-coil domain containing 99 (CCDC99), mRNA.	410					cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(8)|ovary(1)|skin(1)	25	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGAGCGAAAACTTTTTGCAAA	0.353													5	56					0	0	0.014758	0	0	T	169026067	C	T	169026067	3	4	72	1	0	0	0	0	1	0	0	0	2876	565	20	3	1262	3	CCDC99	5	169026067	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08	128021176	169026067	11889193	16	3086											
N4BP3	23138	broad.mit.edu	37	chr5	177547253	177547253	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatccatgcaaagtctggcGtcccacaaaggccagaagct	12	7	9	13	1	1	1	0	0	1	1	3	1	3	1	3	2	2	2	3	2	4	1			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr5:177547253G>A	uc003mik.1	+	2	652	c.405G>A	c.(403-405)gcG>gcA	p.A135A	N4BP3_uc003mil.1_5'Flank	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Homo sapiens NEDD4 binding protein 3 (N4BP3), mRNA.	135						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAAGTCTGGCGTCCCACAAAG	0.682													23	24					0	0	0.076483	0	0	A	177547253	G	A	177547253	2	1	72	1	0	0	0	0	0	0	0	1	10113	1132	40	1		1	N4BP3	5	177547253	Silent	SNP	G	TCGA-DU-6400-01A-12D-1705-08	8521186	177547253	3368007	17	3087											
GPR116	221395	broad.mit.edu	37	chr6	46830657	46830657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagactgtttattggggCagagatgcagtcatttctct	9	13	12	7	0	2	2	1	0	1	2	3	4	2	2	0	2	2	4	0	2	1	4			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr6:46830657C>T	uc003oyo.3	-	14	2456	c.2167G>A	c.(2167-2169)Gcc>Acc	p.A723T	GPR116_uc011dwj.1_Missense_Mutation_p.A278T|GPR116_uc011dwk.1_Missense_Mutation_p.A152T|GPR116_uc003oyp.3_Missense_Mutation_p.A581T|GPR116_uc003oyq.3_Missense_Mutation_p.A723T|GPR116_uc010jzi.1_Missense_Mutation_p.A395T	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	723					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTTATTGGGGCAGAGATGCAG	0.512													43	132					0	0	0.11126	0	0	T	46830657	C	T	46830657	3	4	72	1	0	0	0	0	1	0	0	0	6633	710	25	3	1901	3	GPR116	6	46830657	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08		46830657	124284410	18	3088											
ZNF292	23036	broad.mit.edu	37	chr6	87967233	87967233	+	Frame_Shift_Del	DEL	C	C	-																															aactggaaaataatacaaatCattattcctcacagattgaa																										TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr6:87967233delC	uc003plm.4	+	7	3927	c.3886delC	c.(3886-3888)catfs	p.H1296fs		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	1296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAATACAAATCATTATTCCTC	0.378													8	11	---	---	---	---						-	87967233	C	-	87967233	7	5	72	1	0	1	0	1	0	0	0	0	17823	826	29	0	3916	0	ZNF292	6	87967233	Frame_Shift_Del	DEL	C	TCGA-DU-6400-01A-12D-1705-08	41136576	87967233	83147834	19	3089											
PGAM2	5224	broad.mit.edu	37	chr7	44102503	44102503	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatccccgtgggcaggttcaGctccatgatcgcctggtctg	5	10	13	13	2	2	1	1	1	1	0	5	2	4	1	4	3	1	3	4	3	0	1			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr7:44102503G>C	uc003tjs.3	-	2	680	c.622C>G	c.(622-624)Ctg>Gtg	p.L208V		NM_000290	NP_000281	P15259	PGAM2_HUMAN	Homo sapiens phosphoglycerate mutase 2 (muscle) (PGAM2), mRNA.	208					gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						GGCAGGTTCAGCTCCATGATC	0.557													8	44					0	0	0.047766	0	0	C	44102503	G	C	44102503	3	2	72	1	0	0	0	0	1	0	0	0	11774	962	34	5	143	5	PGAM2	7	44102503	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08		44102503	115036160	20	3090											
ING3	54556	broad.mit.edu	37	chr7	120590817	120590817	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtggtttttttttttttcTttttttttttttgccggagt	3	28	7	3	1	1	0	0	0	1	0	1	1	1	1	1	2	1	1	1	2	1	12			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr7:120590817T>C	uc003vjn.3	+	1	1	c.-133_splice	c.e1-1		ING3_uc011knr.1_Splice_Site|ING3_uc003vjl.3_Splice_Site|ING3_uc003vjm.1_Splice_Site|ING3_uc003vjo.3_Splice_Site|ING3_uc003vjp.3_Splice_Site|ING3_uc011kns.2_5'Flank	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN	Homo sapiens inhibitor of growth family, member 3 (ING3), transcript variant 1, mRNA.						histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					tttttttttcttttttttttt	0.542													2	4					0	0	0.004672	0	0	C	120590817	T	C	120590817	5	2	72	1	0	0	0	0	0	0	1	0	7737	1623	56	4		4	ING3	7	120590817	Splice_Site	SNP	T	TCGA-DU-6400-01A-12D-1705-08	76488314	120590817	38547846	21	3091											
LMOD2	442721	broad.mit.edu	37	chr7	123302491	123302491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caacttcataacgggaaaggGgatcctggccatcatgagag	13	7	12	9	1	2	1	2	1	0	1	3	4	3	3	2	4	2	0	2	4	3	2			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr7:123302491G>A	uc003vky.2	+	1	1008	c.851G>A	c.(850-852)gGg>gAg	p.G284E		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	Homo sapiens leiomodin 2 (cardiac) (LMOD2), mRNA.	284						cytoskeleton	actin binding|tropomyosin binding										ACGGGAAAGGGGATCCTGGCC	0.542													7	90					0	0	0.038147	0	0	A	123302491	G	A	123302491	3	1	72	1	0	0	0	0	1	0	0	0	8857	1232	43	3	857	3	LMOD2	7	123302491	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08	2711674	123302491	35836172	22	3092											
GALNTL5	168391	broad.mit.edu	37	chr7	151711757	151711757	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtggaggccaactctttaTaatcccctgctctcgagtag	8	12	10	11	1	2	0	0	0	2	0	4	2	3	1	3	2	2	2	3	2	4	4			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr7:151711757T>A	uc003wkp.3	+	7	1325	c.1055T>A	c.(1054-1056)aTa>aAa	p.I352K	GALNTL5_uc010lqf.3_Missense_Mutation_p.I241K|GALNTL5_uc003wkq.3_Missense_Mutation_p.I103K|GALNTL5_uc003wkr.3_Non-coding_Transcript|GALNTL5_uc003wks.3_Non-coding_Transcript	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 (GALNTL5), transcript variant 1, mRNA.	352	Catalytic subdomain B.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CAACTCTTTATAATCCCCTGC	0.393													44	64					0	0	0.048971	0	0	A	151711757	T	A	151711757	3	1	72	1	0	0	0	0	1	0	0	0	6224	1406	49	5	1081	5	GALNTL5	7	151711757	Missense_Mutation	SNP	T	TCGA-DU-6400-01A-12D-1705-08	28409266	151711757	7426906	23	3093											
KIFC2	90990	broad.mit.edu	37	chr8	145694030	145694030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcagatgcatgggcagctgGcaggtaagggttggggttgg	8	8	20	5	0	0	1	0	0	0	1	0	1	0	1	0	7	3	8	0	7	1	3			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr8:145694030G>A	uc003zcz.3	+	8	1065	c.1000G>A	c.(1000-1002)Gca>Aca	p.A334T	CYHR1_uc003zcy.2_5'Flank	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	Homo sapiens kinesin family member C2 (KIFC2), mRNA.	334					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TGGGCAGCTGGCAGGTAAGGG	0.652													9	29					0	0	0.047766	0	0	A	145694030	G	A	145694030	3	1	72	1	0	0	0	0	1	0	0	0	8313	1203	42	3	1034	3	KIFC2	8	145694030	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08		145694030	669992	24	3094											
DBC1	1620	broad.mit.edu	37	chr9	122075489	122075489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taggtagctcctggagtggtGgaaaggccccctgtctgaaa	9	9	14	9	0	1	1	0	1	1	0	2	3	2	3	3	5	1	2	3	5	4	2			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr9:122075489G>A	uc004bkc.2	-	1	601	c.145C>T	c.(145-147)Cac>Tac	p.H49Y	DBC1_uc004bkd.2_Missense_Mutation_p.H49Y	NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	49					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CTGGAGTGGTGGAAAGGCCCC	0.502													7	46					0	0	0.02938	0	0	A	122075489	G	A	122075489	3	1	72	1	0	0	0	0	1	0	0	0	4247	1348	47	3	2168	3	DBC1	9	122075489	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08		122075489	19137942	25	3095											
DENND1A	57706	broad.mit.edu	37	chr9	126319963	126319963	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctttttcagcctgttcttCagggaagagatctggtgatg	8	14	11	8	0	4	2	2	1	2	1	4	4	4	3	2	2	1	1	2	2	1	4			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr9:126319963C>T	uc011lzm.1	-	10	997	c.783G>A	c.(781-783)ctG>ctA	p.L261L	DENND1A_uc011lzl.1_Intron|DENND1A_uc004bny.1_Silent_p.L110L|DENND1A_uc004bnz.1_Silent_p.L293L|DENND1A_uc004boa.1_Silent_p.L293L|DENND1A_uc004bob.1_Silent_p.L263L|DENND1A_uc004boc.3_Silent_p.L261L	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	Homo sapiens DENN/MADD domain containing 1A (DENND1A), transcript variant 1, mRNA.	293	DENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GCCTGTTCTTCAGGGAAGAGA	0.537													5	25					0	0	0.014758	0	0	T	126319963	C	T	126319963	2	4	72	1	0	0	0	0	0	0	0	1	4426	813	29	3		3	DENND1A	9	126319963	Silent	SNP	C	TCGA-DU-6400-01A-12D-1705-08	4244474	126319963	14893468	26	3096											
NOTCH1	4851	broad.mit.edu	37	chr9	139399401	139399401	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttgcgcagctgctccggcGgcatcagcaccaccaccacc	7	6	10	18	3	1	0	1	0	0	0	2	0	2	0	5	2	4	6	5	2	0	1			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr9:139399401G>T	uc004chz.3	-	25	4742	c.4742C>A	c.(4741-4743)cCg>cAg	p.P1581Q	NOTCH1_uc004cia.1_Missense_Mutation_p.P811Q	NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	1581					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.M1581del(2)|p.M1581_P1582del(1)|p.M1581_P1582insRP(1)|p.M1581_P1582insPRYEL(1)|p.M1581_P1582insLMHLAF(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTGCTCCGGCGGCATCAGCAC	0.682			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			2	3					0.0016	0.00162222	0.004672	1	0	T	139399401	G	T	139399401	3	4	72	1	0	0	0	0	1	0	0	0	10547	1116	39	5	2961	5	NOTCH1	9	139399401	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08	13079438	139399401	1814030	27	3097											
NOTCH1	4851	broad.mit.edu	37	chr9	139412252	139412252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctggtccaggcaggtggCgtcgttctggcacgggttcg	5	10	16	10	4	2	0	0	0	2	0	5	0	3	0	1	6	0	4	1	6	1	2			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr9:139412252C>T	uc004chz.3	-	7	1393	c.1393G>A	c.(1393-1395)Gcc>Acc	p.A465T		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	465	EGF-like 12; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGCAGGTGGCGTCGTTCTGG	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			6	51					0	0	0.021553	0	0	T	139412252	C	T	139412252	3	4	72	1	0	0	0	0	1	0	0	0	10547	768	27	1	6382	1	NOTCH1	9	139412252	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08	12851	139412252	1801179	28	3098											
KIAA1217	56243	broad.mit.edu	37	chr10	24669943	24669943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagaggcagccggactcGtgcgagccttcctgtggtga	6	9	14	12	3	0	2	0	1	0	1	3	4	2	3	4	3	3	1	4	3	0	2			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr10:24669943G>A	uc001iru.4	+	2	903	c.500G>A	c.(499-501)cGt>cAt	p.R167H	KIAA1217_uc001irs.3_Missense_Mutation_p.R87H|KIAA1217_uc001irt.4_Missense_Mutation_p.R167H|KIAA1217_uc010qcy.2_Missense_Mutation_p.R167H|KIAA1217_uc010qcz.2_Missense_Mutation_p.R167H|KIAA1217_uc001irv.1_Missense_Mutation_p.R17H|KIAA1217_uc010qda.1_Non-coding_Transcript	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	167					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGCCGGACTCGTGCGAGCCTT	0.532													10	31					0	0	0.058154	0	0	A	24669943	G	A	24669943	3	1	72	1	0	0	0	0	1	0	0	0	8216	1145	40	1	510	1	KIAA1217	10	24669943	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08		24669943	110864804	29	3099											
SVIL	6840	broad.mit.edu	37	chr10	29820187	29820187	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaaacaggtacttgccatcGacagttggcgtttctgaatg	10	11	12	8	2	1	1	0	1	1	0	2	3	1	2	1	3	3	3	1	3	3	4			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr10:29820187G>A	uc001iut.1	-	9	2793	c.2040C>T	c.(2038-2040)gtC>gtT	p.V680V	SVIL_uc001iuu.1_Silent_p.V286V	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	680					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ACTTGCCATCGACAGTTGGCG	0.358													12	37					0	0	0.105934	0	0	A	29820187	G	A	29820187	2	1	72	1	0	0	0	0	0	0	0	1	15418	1045	37	2		2	SVIL	10	29820187	Silent	SNP	G	TCGA-DU-6400-01A-12D-1705-08	5150244	29820187	105714560	30	3100											
C10orf91	170393	broad.mit.edu	37	chr10	134259250	134259250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctgggagcttgctggaCgcatgaccaggattctggga	7	9	14	11	1	1	1	0	1	1	0	2	5	2	5	2	4	2	3	2	4	0	2	rs112176383		TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr10:134259250C>T	uc001llm.3	+	1	120	c.80C>T	c.(79-81)aCg>aTg	p.T27M		NM_173541	NP_775812	Q5T1B1	CJ091_HUMAN	Homo sapiens chromosome 10 open reading frame 91 (C10orf91), mRNA.	27										endometrium(1)|kidney(1)|lung(1)|ovary(2)	5		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)		GCTTGCTGGACGCATGACCAG	0.607													40	57					0	0	0.045515	0	0	T	134259250	C	T	134259250	3	4	72	1	0	0	0	0	1	0	0	0	1624	536	19	1	86	1	C10orf91	10	134259250	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08	104439063	134259250	1275497	31	3101											
ALDH3B2	222	broad.mit.edu	37	chr11	67433865	67433865	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgacggcttcagcaccacGcaactccctgcaggggcaga	9	6	11	15	2	2	2	1	1	1	1	3	2	3	2	2	3	3	5	2	3	1	1			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr11:67433865G>A	uc001omr.3	-	4	598	c.159C>T	c.(157-159)tgC>tgT	p.C53C	ALDH3B2_uc001oms.3_Silent_p.C53C|ALDH3B2_uc009ysa.1_Silent_p.C53C	NM_000695	NP_001026786	P48448	AL3B2_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA.	53					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	TCAGCACCACGCAACTCCCTG	0.672													3	8					0	0	0.004672	0	0	A	67433865	G	A	67433865	2	1	72	1	0	0	0	0	0	0	0	1	500	1079	38	1		1	ALDH3B2	11	67433865	Silent	SNP	G	TCGA-DU-6400-01A-12D-1705-08		67433865	67572651	32	3102											
ZW10	9183	broad.mit.edu	37	chr11	113639586	113639586	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctggatttcagcaggtcaAtgtcttcagatagcttatcc	9	14	8	10	0	4	1	3	0	1	1	6	2	6	2	2	2	2	2	2	2	3	4			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr11:113639586A>G	uc001poe.3	-	1	306	c.209T>C	c.(208-210)aTt>aCt	p.I70T	ZW10_uc009yyv.3_Non-coding_Transcript	NM_004724	NP_004715	O43264	ZW10_HUMAN	Homo sapiens ZW10, kinetochore associated, homolog (Drosophila) (ZW10), mRNA.	70	Interaction with RINT1.|Interaction with ZWINT.				ER to Golgi vesicle-mediated transport|cell division|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		CAGCAGGTCAATGTCTTCAGA	0.463													21	90					0	0	0.055883	0	0	G	113639586	A	G	113639586	3	3	72	1	0	0	0	0	1	0	0	0	18244	101	4	3	2190	3	ZW10	11	113639586	Missense_Mutation	SNP	A	TCGA-DU-6400-01A-12D-1705-08	46205721	113639586	21366930	33	3103											
DPY19L2	283417	broad.mit.edu	37	chr12	64020270	64020270	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctccatggttgaaaaagaaGcacagtactgtaataagacc	16	9	8	8	0	1	3	0	1	1	2	2	3	1	3	2	1	2	4	2	1	6	4			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr12:64020270G>C	uc001srp.1	-	6	1021	c.840C>G	c.(838-840)tgC>tgG	p.C280W	DPY19L2_uc009zqk.1_Non-coding_Transcript	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	Homo sapiens dpy-19-like 2 (C. elegans) (DPY19L2), mRNA.	280					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TGAAAAAGAAGCACAGTACTG	0.313													10	17					0	0	0.058154	0	0	C	64020270	G	C	64020270	3	2	72	1	0	0	0	0	1	0	0	0	4741	963	34	5	1500	5	DPY19L2	12	64020270	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08		64020270	69831625	34	3104											
C12orf26	84190	broad.mit.edu	37	chr12	82828486	82828486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctttaaggcattggagcggGttgcagctggccaaggggta	8	9	16	8	1	0	0	0	0	0	0	0	1	0	1	2	6	3	5	2	6	3	5			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr12:82828486G>A	uc001szq.3	+	6	1456	c.1387G>A	c.(1387-1389)Gtt>Att	p.V463I		NM_032230	NP_115606	Q8N6Q8	CL026_HUMAN	Homo sapiens chromosome 12 open reading frame 26 (C12orf26), mRNA.	463										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	19						ATTGGAGCGGGTTGCAGCTGG	0.373													28	54					0	0	0.034045	0	0	A	82828486	G	A	82828486	3	1	72	1	0	0	0	0	1	0	0	0	1679	1261	44	3	1413	3	C12orf26	12	82828486	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08	18808216	82828486	51023409	35	3105											
DNAH10	196385	broad.mit.edu	37	chr12	124408866	124408866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaaaagaaaaaagccctgcGcttggttgtctgaccaagga	14	7	11	9	1	1	2	0	1	1	1	1	3	1	3	2	2	2	3	2	2	6	2			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr12:124408866G>A	uc001uft.4	+	65	11324	c.11299G>A	c.(11299-11301)Gct>Act	p.A3767T	DNAH10_uc001ufu.4_5'Flank	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3767					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAAGCCCTGCGCTTGGTTGTC	0.403													14	21					0	0	0.024245	0	0	A	124408866	G	A	124408866	3	1	72	1	0	0	0	0	1	0	0	0	4598	1087	38	1	11561	1	DNAH10	12	124408866	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08	41580380	124408866	9443029	36	3106											
EDDM3B	64184	broad.mit.edu	37	chr14	21238446	21238446	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtccaagtcgagaattcaGagagtacaaatgtgatgtcc	15	9	10	7	1	1	3	1	1	0	2	4	5	3	3	2	0	1	1	2	0	5	2			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr14:21238446G>C	uc021ron.1	+	0	137	c.137G>C	c.(136-138)aGa>aCa	p.R46T	EDDM3B_uc001vyd.3_Missense_Mutation_p.R46T	NM_022360	NP_071755	P56851	EP3B_HUMAN	Homo sapiens epididymal protein 3B (EDDM3B), mRNA.	46					spermatid development	extracellular region		p.R46I(2)		central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						CGAGAATTCAGAGAGTACAAA	0.393													24	82					0	0	0.083992	0	0	C	21238446	G	C	21238446	3	2	72	1	0	0	0	0	1	0	0	0	4910	942	33	5	139	5	EDDM3B	14	21238446	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08		21238446	86111094	37	3107											
TTC8	123016	broad.mit.edu	37	chr14	89338726	89338726	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcaggctggctctggtcaAcaacaacaaccacgccgagg	11	6	10	14	2	3	0	2	0	1	0	3	1	3	0	2	4	4	2	2	4	4	1			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr14:89338726A>G	uc010ath.3	+	12	1459	c.1325A>G	c.(1324-1326)aAc>aGc	p.N442S	TTC8_uc001xxi.3_Missense_Mutation_p.N426S|TTC8_uc001xxj.3_Missense_Mutation_p.N416S|TTC8_uc001xxk.3_Missense_Mutation_p.N386S|TTC8_uc001xxl.3_Missense_Mutation_p.N187S|TTC8_uc010ati.3_Missense_Mutation_p.N228S|TTC8_uc010atj.3_Missense_Mutation_p.N161S	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN	Homo sapiens tetratricopeptide repeat domain 8 (TTC8), transcript variant 2, mRNA.	452					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding	p.M442I(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GCTCTGGTCAACAACAACAAC	0.537													3	89					0	0	0.004672	0	0	G	89338726	A	G	89338726	3	3	72	1	0	0	0	0	1	0	0	0	16711	43	2	3	1327	3	TTC8	14	89338726	Missense_Mutation	SNP	A	TCGA-DU-6400-01A-12D-1705-08	68100280	89338726	18010814	38	3108											
E4F1	1877	broad.mit.edu	37	chr16	2279638	2279638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcgtggtggaggcggcctCtctggcagcagacatcagcc	7	7	14	13	2	2	1	1	0	1	1	4	2	2	2	2	5	2	2	2	5	0	0			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr16:2279638C>T	uc002cpm.3	+	2	425	c.377C>T	c.(376-378)tCt>tTt	p.S126F	E4F1_uc010bsi.3_Missense_Mutation_p.S126F|E4F1_uc010bsj.3_Missense_Mutation_p.S126F	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	Homo sapiens E4F transcription factor 1 (E4F1), mRNA.	126					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						GAGGCGGCCTCTCTGGCAGCA	0.617													40	97					0	0	0.080422	0	0	T	2279638	C	T	2279638	3	4	72	1	0	0	0	0	1	0	0	0	4874	913	32	3	387	3	E4F1	16	2279638	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08		2279638	88075115	39	3109											
CCDC113	29070	broad.mit.edu	37	chr16	58292428	58292428	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggacatgaaccgccggaggGtaagttggcagacagagctt	12	6	15	8	2	0	3	0	1	0	2	0	5	0	5	2	4	2	4	2	4	2	3			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr16:58292428G>A	uc002ene.3	+	4	625	c.546_splice	c.e4+1	p.R182_splice	CCDC113_uc010vid.2_Splice_Site_p.R128_splice	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN	Homo sapiens coiled-coil domain containing 113 (CCDC113), transcript variant 1, mRNA.	182						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						CCGCCGGAGGGTAAGTTGGCA	0.418													17	24					0	0	0.028581	0	0	A	58292428	G	A	58292428	5	1	72	1	0	0	0	0	0	0	1	0	2750	1275	44	3	561	3	CCDC113	16	58292428	Splice_Site	SNP	G	TCGA-DU-6400-01A-12D-1705-08	56012790	58292428	32062325	40	3110											
SF3B3	23450	broad.mit.edu	37	chr16	70601345	70601345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaggtccctgctgctattgCcccattccaggggagggtgt	6	10	14	11	0	0	1	0	0	0	1	2	2	2	2	4	4	3	2	4	4	1	3			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr16:70601345C>T	uc002ezf.3	+	20	3069	c.2858C>T	c.(2857-2859)gCc>gTc	p.A953V		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.	953					protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding	p.A953V(2)		breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GCTGCTATTGCCCCATTCCAG	0.493													3	80					0	0	0.004672	0	0	T	70601345	C	T	70601345	3	4	72	1	0	0	0	0	1	0	0	0	14152	739	26	3	2936	3	SF3B3	16	70601345	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08	12308917	70601345	19753408	41	3111											
MYH1	4619	broad.mit.edu	37	chr17	10404045	10404045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actcagttgatcttctagagCgcggcacatcttttcaaggt	9	13	9	10	2	5	2	2	1	3	1	5	2	5	2	0	2	1	2	0	2	2	5	rs142605633		TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr17:10404045C>T	uc002gmo.3	-	27	3857	c.3763G>A	c.(3763-3765)Gct>Act	p.A1255T	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1255						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.A1255T(2)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCTTCTAGAGCGCGGCACATC	0.453													16	57					0	0	0.028581	0	0	T	10404045	C	T	10404045	3	4	72	1	0	0	0	0	1	0	0	0	10029	768	27	1	2108	1	MYH1	17	10404045	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08		10404045	70791165	42	3112											
DLX4	1748	broad.mit.edu	37	chr17	48051291	48051291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcctcagatgtcctggcttCgcctcagatgatgtgaatct	7	13	9	12	1	3	4	2	2	1	2	6	4	5	4	3	1	0	1	3	1	1	1			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr17:48051291C>T	uc002ipv.3	+	2	978	c.707C>T	c.(706-708)tCg>tTg	p.S236L	DLX4_uc002ipw.3_Missense_Mutation_p.S164L|DLX4_uc021tzu.1_3'UTR	NM_138281	NP_612138	Q92988	DLX4_HUMAN	Homo sapiens distal-less homeobox 4 (DLX4), transcript variant 1, mRNA.	236					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S236L(2)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						GTCCTGGCTTCGCCTCAGATG	0.617													20	22					0	0	0.055883	0	0	T	48051291	C	T	48051291	3	4	72	1	0	0	0	0	1	0	0	0	4573	893	31	2	784	2	DLX4	17	48051291	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08	37647246	48051291	33143919	43	3113											
ABCA6	23460	broad.mit.edu	37	chr17	67080415	67080415	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcaccacatttgctgctGccctgtggggtctatgcccg	4	12	11	14	1	2	0	1	0	1	0	2	0	2	0	3	2	5	3	3	2	1	2			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr17:67080415G>C	uc002jhw.1	-	33	4517	c.4342C>G	c.(4342-4344)Cag>Gag	p.Q1448E		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	1448	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATTTGCTGCTGCCCTGTGGGG	0.483													3	49					0	0	0.004672	0	0	C	67080415	G	C	67080415	3	2	72	1	0	0	0	0	1	0	0	0	36	1328	46	5	535	5	ABCA6	17	67080415	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08	19029124	67080415	14114795	44	3114											
PLIN4	729359	broad.mit.edu	37	chr19	4511137	4511137	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccacacctgtctggacGgtccctttggccacatttac	6	12	9	14	1	1	0	0	0	1	0	3	1	3	1	4	3	1	0	4	3	1	3			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr19:4511137G>A	uc002mar.1	-	2	2793	c.2793C>T	c.(2791-2793)acC>acT	p.T931T	PLIN4_uc010dub.1_5'UTR	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	931	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CTGTCTGGACGGTCCCTTTGG	0.597													12	52					0	0	0.09319	0	0	A	4511137	G	A	4511137	2	1	72	1	0	0	0	0	0	0	0	1	12092	1103	39	2		2	PLIN4	19	4511137	Silent	SNP	G	TCGA-DU-6400-01A-12D-1705-08		4511137	54617846	45	3115											
ACTL9	284382	broad.mit.edu	37	chr19	8808420	8808420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggcgtggagcaggttgtagCcctggaagacgggcactgtg	7	8	18	8	2	0	1	0	0	0	1	0	3	0	3	1	5	2	4	1	5	2	2			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr19:8808420C>T	uc002mkl.2	-	0	753	c.632G>A	c.(631-633)gGc>gAc	p.G211D		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	211						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CAGGTTGTAGCCCTGGAAGAC	0.682													24	22					0	0	0.034045	0	0	T	8808420	C	T	8808420	3	4	72	1	0	0	0	0	1	0	0	0	203	739	26	3	622	3	ACTL9	19	8808420	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08	4297283	8808420	50320563	46	3116											
CIC	23152	broad.mit.edu	37	chr19	42791721	42791721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaaggaccacatccggcggCccatgaatgccttcatgatc	11	7	10	13	2	1	3	1	2	0	1	3	4	2	4	4	3	1	0	4	3	2	1			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr19:42791721C>T	uc002otf.1	+	4	647	c.607C>T	c.(607-609)Ccc>Tcc	p.P203S		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R202W(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CATCCGGCGGCCCATGAATGC	0.627			"Mis, F, S"		oligodendroglioma								12	24					0	0	0.09319	0	0	T	42791721	C	T	42791721	3	4	72	1	0	0	0	0	1	0	0	0	3424	739	26	3	625	3	CIC	19	42791721	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08	33983301	42791721	16337262	47	3117											
CIC	23152	broad.mit.edu	37	chr19	42793381	42793381	+	Frame_Shift_Del	DEL	T	T	-																															gcccaaagccttctacccagTatggagctccaggacccttt																										TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr19:42793381delT	uc002otf.1	+	7	1223	c.1183delT	c.(1183-1185)tatfs	p.Y395fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TTCTACCCAGTATGGAGCTCC	0.657			"Mis, F, S"		oligodendroglioma								37	26	---	---	---	---						-	42793381	T	-	42793381	7	5	72	1	0	1	0	1	0	0	0	0	3424	1638	57	0	1213	0	CIC	19	42793381	Frame_Shift_Del	DEL	T	TCGA-DU-6400-01A-12D-1705-08	1660	42793381	16335602	48	3118											
LILRB5	10990	broad.mit.edu	37	chr19	54754838	54754839	+	Frame_Shift_Ins	INS	-	-	G																															gtaaggaacgtggtgggggtINSggggaggcctgggggcctgg																								rs11375503		TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr19:54754838_54754839insG	uc010yer.1	-	12	1907_1908	c.1796_1797insC	c.(1795-1797)ccafs	p.P599fs	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Intron|LILRB5_uc002qez.3_Intron|LILRB5_uc002qex.3_Intron|LILRB5_uc002qfa.1_3'UTR			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	424					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGGTGGGGGTGGGGAGGCCTG	0.604													5	1	---	---	---	---						G	54754839	-	G	54754838	7	5	72	1	0	1	1	0	0	0	0	0	8794	1711	59	0		0	LILRB5	19	54754838	Frame_Shift_Ins	INS	-	TCGA-DU-6400-01A-12D-1705-08	11961457	54754838	4374145	49	3119											
ZBED1	9189	broad.mit.edu	37	chrX	2407265	2407265	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaggcccttggcctctTccaccacgcgattctccacc	6	8	7	20	2	2	0	0	0	2	0	4	1	3	0	7	2	1	1	7	2	0	3			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:2407265T>A	uc022brx.1	-	0	1496	c.1496A>T	c.(1495-1497)gAa>gTa	p.E499V	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Missense_Mutation_p.E499V|ZBED1_uc004cqg.2_Missense_Mutation_p.E499V|ZBED1_uc022brw.1_Missense_Mutation_p.E499V	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	499						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTTGGCCTCTTCCACCACGCG	0.637													47	49					0	0	0.048971	0	0	A	2407265	T	A	2407265	3	1	72	1	0	0	0	0	1	0	0	0	17514	1783	62	5	592	5	ZBED1	23	2407265	Missense_Mutation	SNP	T	TCGA-DU-6400-01A-12D-1705-08		2407265	152863295	50	3120											
DCAF8L1	139425	broad.mit.edu	37	chrX	27998600	27998600	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgggcaggtcccctgtgCttggccacacgcttagtatt	5	12	12	12	2	0	0	0	0	0	0	2	0	1	0	3	3	1	4	3	3	2	4			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:27998600C>A	uc004dbx.1	-	0	967	c.852G>T	c.(850-852)aaG>aaT	p.K284N		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	284										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GTCCCCTGTGCTTGGCCACAC	0.517													15	60					1.02788e-11	1.08747e-11	0.0333	1	0	A	27998600	C	A	27998600	3	1	72	1	0	0	0	0	1	0	0	0	4277	796	28	5	954	5	DCAF8L1	23	27998600	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08	25591335	27998600	127271960	51	3121											
WAS	7454	broad.mit.edu	37	chrX	48542340	48542340	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaggaccacgagaaccAgcgactctttgagatgcttg	10	8	10	13	2	1	2	0	1	1	2	2	6	2	3	4	1	3	1	4	1	1	2			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:48542340A>G	uc004dkm.4	+	0	155	c.98A>G	c.(97-99)cAg>cGg	p.Q33R		NM_000377	NP_000368	P42768	WASP_HUMAN	Homo sapiens Wiskott-Aldrich syndrome (eczema-thrombocytopenia) (WAS), mRNA.	33					T cell receptor signaling pathway|blood coagulation|defense response|epidermis development|immune response	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				CACGAGAACCAGCGACTCTTT	0.622			"Mis, N, F, S"			lymphoma							9	63					0	0	0.058154	0	0	G	48542340	A	G	48542340	3	3	72	1	0	0	0	0	1	0	0	0	17248	188	7	4	100	4	WAS	23	48542340	Missense_Mutation	SNP	A	TCGA-DU-6400-01A-12D-1705-08	20543740	48542340	106728220	52	3122											
NUDT10	170685	broad.mit.edu	37	chrX	51075880	51075880	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttcaagaagcgggcggcGtgcctgtgcttccggagcga	6	7	18	10	5	1	1	1	0	0	1	2	3	2	2	2	4	4	2	2	4	2	2			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:51075880G>A	uc004dph.3	+	1	283	c.63G>A	c.(61-63)gcG>gcA	p.A21A	NUDT10_uc004dpi.4_Silent_p.A21A	NM_153183	NP_694853	Q8NFP7	NUD10_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 10 (NUDT10), mRNA.	21	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					AGCGGGCGGCGTGCCTGTGCT	0.672													12	9					0	0	0.09319	0	0	A	51075880	G	A	51075880	2	1	72	1	0	0	0	0	0	0	0	1	10726	1132	40	1		1	NUDT10	23	51075880	Silent	SNP	G	TCGA-DU-6400-01A-12D-1705-08	2533540	51075880	104194680	53	3123											
ZC3H12B	340554	broad.mit.edu	37	chrX	64721755	64721755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcggtggctgatgagctcCgcatcagtgccaaactgtcc	7	10	12	12	2	1	2	1	2	0	0	4	2	3	2	3	2	3	4	3	2	1	1			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:64721755C>T	uc010nko.3	+	4	1244	c.1177C>T	c.(1177-1179)Cgc>Tgc	p.R393C		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.	382							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGATGAGCTCCGCATCAGTGC	0.522													7	15					0	0	0.02938	0	0	T	64721755	C	T	64721755	3	4	72	1	0	0	0	0	1	0	0	0	17559	652	23	2	1195	2	ZC3H12B	23	64721755	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08	13645875	64721755	90548805	54	3124											
PCDH11X	27328	broad.mit.edu	37	chrX	91090710	91090710	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagctagtgtacaagacCggagatgtgccactgattcg	11	10	11	9	2	1	3	1	1	0	2	2	4	1	3	2	1	3	2	2	1	4	4			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:91090710C>T	uc004efk.2	+	0	1052	c.207C>T	c.(205-207)acC>acT	p.T69T	PCDH11X_uc004efl.2_Silent_p.T69T|PCDH11X_uc010nmv.2_Silent_p.T69T|PCDH11X_uc004efm.2_Silent_p.T69T|PCDH11X_uc004efn.2_Silent_p.T69T|PCDH11X_uc004efo.2_Silent_p.T69T|PCDH11X_uc004efh.2_Silent_p.T69T|PCDH11X_uc004efj.1_Silent_p.T69T	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	69	Cadherin 1.				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						TGTACAAGACCGGAGATGTGC	0.458													27	134					0	0	0.108266	0	0	T	91090710	C	T	91090710	2	4	72	1	0	0	0	0	0	0	0	1	11508	639	23	2		2	PCDH11X	23	91090710	Silent	SNP	C	TCGA-DU-6400-01A-12D-1705-08	26368955	91090710	64179850	55	3125											
TBC1D8B	54885	broad.mit.edu	37	chrX	106046201	106046201	+	Frame_Shift_Del	DEL	G	G	-																															gctacggggaggaaggcggaGgggggctcacaggtaagctg																										TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:106046201delG	uc004emo.3	+	0	283	c.118delG	c.(118-120)gggfs	p.G40fs	TBC1D8B_uc004emm.3_Frame_Shift_Del_p.G40fs|TBC1D8B_uc004emn.3_Frame_Shift_Del_p.G40fs	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	40						intracellular	Rab GTPase activator activity|calcium ion binding	p.G40G(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GGAAGGCGGAGGGGGGCTCAC	0.577													15	23	---	---	---	---						-	106046201	G	-	106046201	7	5	72	1	0	1	0	1	0	0	0	0	15623	1000	35	0	120	0	TBC1D8B	23	106046201	Frame_Shift_Del	DEL	G	TCGA-DU-6400-01A-12D-1705-08	14955491	106046201	49224359	56	3126											
RGAG1	57529	broad.mit.edu	37	chrX	109696415	109696415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagatccacagcctctggagGgatgtccatgccactgatga	11	8	11	11	0	1	3	0	2	1	1	3	5	3	5	4	2	2	0	4	2	1	0			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:109696415G>A	uc004eor.2	+	2	2816	c.2570G>A	c.(2569-2571)gGg>gAg	p.G857E	RGAG1_uc011msr.1_Missense_Mutation_p.G857E	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	857								p.G857G(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GCCTCTGGAGGGATGTCCATG	0.527													96	143					0	0	0.048971	0	0	A	109696415	G	A	109696415	3	1	72	1	0	0	0	0	1	0	0	0	13274	1232	43	3	2572	3	RGAG1	23	109696415	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08	3650214	109696415	45574145	57	3127											
GPR112	139378	broad.mit.edu	37	chrX	135405538	135405538	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atcatcccaactgttgacagGacactgcgctgctgtgagta	10	10	10	11	1	1	2	1	2	0	0	2	3	2	3	1	1	3	4	1	1	2	2			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:135405538G>A	uc004ezu.1	+	4	963	c.672G>A	c.(670-672)agG>agA	p.R224R	GPR112_uc010nsb.1_Intron	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	224					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R224M(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTGTTGACAGGACACTGCGCT	0.433													12	131					0	0	0.105934	0	0	A	135405538	G	A	135405538	2	1	72	1	0	0	0	0	0	0	0	1	6629	1165	41	3		3	GPR112	23	135405538	Silent	SNP	G	TCGA-DU-6400-01A-12D-1705-08	25709123	135405538	19865022	58	3128											
C1orf174	339448	broad.mit.edu	37	chr1	3809463	3809463	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcaccagacatgctgtcttgGcagacgtggaaccagcaact	11	8	10	12	1	2	2	1	0	1	2	2	3	2	3	2	2	4	3	2	2	2	1			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr1:3809463G>A	uc001alf.3	-	1	220	c.113C>T	c.(112-114)gCc>gTc	p.A38V	C1orf174_uc009vls.3_Non-coding_Transcript	NM_207356	NP_997239	Q8IYL3	CA174_HUMAN	Homo sapiens chromosome 1 open reading frame 174 (C1orf174), mRNA.	38										endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		TGCTGTCTTGGCAGACGTGGA	0.542													3	28					0	0	0.115264	0	0	A	3809463	G	A	3809463	3	1	73	1	0	0	0	0	1	0	0	0	2015	1203	42	3	630	3	C1orf174	1	3809463	Missense_Mutation	SNP	G	TCGA-DU-6401-01A-11D-1705-08		3809463	245441158	1	3129											
DHDDS	79947	broad.mit.edu	37	chr1	26772898	26772898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggagctgattgcacaagctGtacaggccacgaagaactac	14	6	11	10	1	0	2	0	1	0	1	0	4	0	3	1	2	6	4	1	2	5	3			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr1:26772898G>A	uc001bmk.3	+	4	565	c.415G>A	c.(415-417)Gta>Ata	p.V139I	DHDDS_uc001bml.3_Missense_Mutation_p.V139I|DHDDS_uc001bmn.3_Intron|DHDDS_uc010ofd.2_Missense_Mutation_p.V139I|DHDDS_uc001bmm.3_Missense_Mutation_p.V46I	NM_024887	NP_079163	Q86SQ9	DHDDS_HUMAN	Homo sapiens dehydrodolichyl diphosphate synthase (DHDDS), transcript variant 2, mRNA.	139							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		TGCACAAGCTGTACAGGCCAC	0.517													41	79					0	0	0.864702	0	0	A	26772898	G	A	26772898	3	1	73	1	0	0	0	0	1	0	0	0	4478	1377	48	3	429	3	DHDDS	1	26772898	Missense_Mutation	SNP	G	TCGA-DU-6401-01A-11D-1705-08	22963435	26772898	222477723	2	3130											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr2:209113113G>T	uc002vcs.3	-	3	640	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_uc002vct.3_Missense_Mutation_p.R132S|IDH1_uc002vcu.3_Missense_Mutation_p.R132S	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								26	48					6.32553e-13	7.52225e-13	0.681144	1	0	T	209113113	G	T	209113113	3	4	73	1	0	0	0	0	1	0	0	0	7494	1058	37	5	878	5	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-DU-6401-01A-11D-1705-08		209113113	34086260	3	3131											
SLIT2	9353	broad.mit.edu	37	chr4	20490510	20490510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccgactggcttcgccaaaGgcctcgggttggtctgtaca	6	10	12	13	3	1	0	0	0	1	0	4	1	2	0	3	4	1	3	3	4	2	3			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr4:20490510G>A	uc003gpr.1	+	7	884	c.680G>A	c.(679-681)aGg>aAg	p.R227K	SLIT2_uc003gps.1_Missense_Mutation_p.R227K	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	227	LRRCT 1.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CTTCGCCAAAGGCCTCGGGTT	0.498													31	154					0	0	0.796494	0	0	A	20490510	G	A	20490510	3	1	73	1	0	0	0	0	1	0	0	0	14740	1000	35	3	710	3	SLIT2	4	20490510	Missense_Mutation	SNP	G	TCGA-DU-6401-01A-11D-1705-08		20490510	170663766	4	3132											
PRPH2	5961	broad.mit.edu	37	chr6	42690067	42690067	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaaacttgactttcagtagCgccatgcttgccaagtgtag	10	12	9	10	1	2	1	2	1	0	0	2	1	2	1	2	0	4	3	2	0	4	5			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr6:42690067C>T	uc003osk.3	-	0	292	c.6G>A	c.(4-6)gcG>gcA	p.A2A		NM_000322	NP_000313	P23942	PRPH2_HUMAN	Homo sapiens peripherin 2 (retinal degeneration, slow) (PRPH2), mRNA.	2					cell adhesion|visual perception	integral to membrane		p.A2V(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			CTTTCAGTAGCGCCATGCTTG	0.552													3	44					0	0	0.115264	0	0	T	42690067	C	T	42690067	2	4	73	1	0	0	0	0	0	0	0	1	12577	755	27	1		1	PRPH2	6	42690067	Silent	SNP	C	TCGA-DU-6401-01A-11D-1705-08		42690067	128425000	5	3133											
LAMA2	3908	broad.mit.edu	37	chr6	129419503	129419503	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgtcatatgccaaagaTgatgaggtcatctgcacttc	11	10	8	12	1	3	3	2	2	1	1	4	3	3	3	3	1	2	1	3	1	2	2			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr6:129419503T>C	uc021zfb.1	+	3	687	c.582T>C	c.(580-582)gaT>gaC	p.D194D	LAMA2_uc003qbn.3_Silent_p.D194D|LAMA2_uc003qbo.3_Silent_p.D194D	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	194	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATGCCAAAGATGATGAGGTCA	0.443													9	60					0	0	0.307466	0	0	C	129419503	T	C	129419503	2	2	73	1	0	0	0	0	0	0	0	1	8606	1461	51	3		3	LAMA2	6	129419503	Silent	SNP	T	TCGA-DU-6401-01A-11D-1705-08	86729436	129419503	41695564	6	3134											
TNFAIP3	7128	broad.mit.edu	37	chr6	138199814	138199814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatgagtgctcagagaggcGgcaaaagaatcaaaacaaac	18	4	10	9	1	2	3	2	1	0	2	2	4	2	3	1	2	3	2	1	2	6	0			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr6:138199814G>A	uc003qhr.3	+	6	1298	c.1232G>A	c.(1231-1233)cGg>cAg	p.R411Q	TNFAIP3_uc003qhs.3_Missense_Mutation_p.R411Q|TNFAIP3_uc021zfv.1_Missense_Mutation_p.R39Q	NM_006290	NP_006281	P21580	TNAP3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 3 (TNFAIP3), mRNA.	411	Interaction with NAF1 (By similarity).				B-1 B cell homeostasis|anti-apoptosis|apoptosis|negative regulation of B cell activation|negative regulation of CD40 signaling pathway|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of bone resorption|negative regulation of endothelial cell apoptosis|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	DNA binding|caspase inhibitor activity|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)|p.R410fs*18(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		TCAGAGAGGCGGCAAAAGAAT	0.557			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"								6	76					0	0	0.248553	0	0	A	138199814	G	A	138199814	3	1	73	1	0	0	0	0	1	0	0	0	16271	1116	39	2	1254	2	TNFAIP3	6	138199814	Missense_Mutation	SNP	G	TCGA-DU-6401-01A-11D-1705-08	8780311	138199814	32915253	7	3135											
SMOC2	64094	broad.mit.edu	37	chr6	168947817	168947817	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgatgccgcagctccagCgttggagactcagcctcaag	10	7	12	12	2	2	3	2	1	0	2	3	4	3	3	3	1	4	3	3	1	1	1			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr6:168947817C>A	uc003qwr.2	+	5	783	c.563C>A	c.(562-564)gCg>gAg	p.A188E	SMOC2_uc003qws.2_Missense_Mutation_p.A177E	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	Homo sapiens SPARC related modular calcium binding 2 (SMOC2), transcript variant 1, mRNA.	177					signal transduction	basement membrane	calcium ion binding	p.A188G(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		GCAGCTCCAGCGTTGGAGACT	0.522													4	148					0.00909568	0.00930721	0.150653	1	0	A	168947817	C	A	168947817	3	1	73	1	0	0	0	0	1	0	0	0	14802	768	27	5	585	5	SMOC2	6	168947817	Missense_Mutation	SNP	C	TCGA-DU-6401-01A-11D-1705-08	30748003	168947817	2167250	8	3136											
ESCO2	157570	broad.mit.edu	37	chr8	27634263	27634266	+	Frame_Shift_Del	DEL	TAAG	TAAG	-																															ccacagaagagtttaactgcTaagtatcaaccaaagtatag																										TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr8:27634263_27634266delTAAG	uc003xgg.3	+	2	521_524	c.438_441delTAAG	c.(436-441)gctaagfs	p.A146fs	ESCO2_uc010luy.1_Non-coding_Transcript|ESCO2_uc003xgh.3_Frame_Shift_Del_p.A146fs	NM_001017420	NP_001017420	Q56NI9	ESCO2_HUMAN	Homo sapiens establishment of cohesion 1 homolog 2 (S. cerevisiae) (ESCO2), mRNA.	146					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		GTTTAACTGCTAAGTATCAACCAA	0.353									SC Phocomelia syndrome				23	39	---	---	---	---						-	27634266	TAAG	-	27634263	7	5	73	1	0	1	0	1	0	0	0	0	5249	1509	53	0	444	0	ESCO2	8	27634263	Frame_Shift_Del	DEL	TAAG	TCGA-DU-6401-01A-11D-1705-08		27634263	118729759	9	3137											
ENPP2	5168	broad.mit.edu	37	chr8	120596283	120596283	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtttcttataaacatccaaAggtttcctaaattgaaacaa	16	13	5	7	0	1	1	0	1	1	0	3	1	3	1	2	2	2	2	2	2	8	6			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr8:120596283A>G	uc003yos.2	-	16	1616	c.1530T>C	c.(1528-1530)ccT>ccC	p.P510P	ENPP2_uc011lic.2_5'UTR|ENPP2_uc003yor.2_Silent_p.P97P|ENPP2_uc010mdd.2_Silent_p.P458P|ENPP2_uc003yot.2_Silent_p.P458P	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	458					G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	p.P510L(1)|p.P510S(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AAACATCCAAAGGTTTCCTAA	0.348													66	61					0	0	0.870114	0	0	G	120596283	A	G	120596283	2	3	73	1	0	0	0	0	0	0	0	1	5130	59	3	4		4	ENPP2	8	120596283	Silent	SNP	A	TCGA-DU-6401-01A-11D-1705-08	92962020	120596283	25767739	10	3138											
KCNT1	57582	broad.mit.edu	37	chr9	138657002	138657002	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaagatcgaccttctcatGgacttcctgaacgagttcta	10	12	7	12	2	3	2	2	1	2	1	6	5	4	3	2	1	1	1	2	1	3	4			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr9:138657002G>T	uc011mdq.2	+	11	1235	c.1161G>T	c.(1159-1161)atG>atT	p.M387I	KCNT1_uc011mdr.2_Missense_Mutation_p.M214I|KCNT1_uc010nbf.3_Missense_Mutation_p.M342I|KCNT1_uc004cgo.1_Missense_Mutation_p.M136I	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	387						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACCTTCTCATGGACTTCCTGA	0.642													11	87					3.86212e-05	4.14471e-05	0.361761	1	0	T	138657002	G	T	138657002	3	4	73	1	0	0	0	0	1	0	0	0	8091	1348	47	5	1207	5	KCNT1	9	138657002	Missense_Mutation	SNP	G	TCGA-DU-6401-01A-11D-1705-08		138657002	2556429	11	3139											
SLCO1B1	10599	broad.mit.edu	37	chr12	21329781	21329781	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaccttatccacttgtttaaTtaatcaaattttatcactca	13	17	2	9	0	3	0	3	0	0	0	4	1	4	0	2	0	0	1	2	0	5	7			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr12:21329781T>C	uc001req.4	+	4	535	c.431T>C	c.(430-432)aTt>aCt	p.I144T		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	144					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	ACTTGTTTAATTAATCAAATT	0.274													39	41					0	0	0.812448	0	0	C	21329781	T	C	21329781	3	2	73	1	0	0	0	0	1	0	0	0	14723	1493	52	3	445	3	SLCO1B1	12	21329781	Missense_Mutation	SNP	T	TCGA-DU-6401-01A-11D-1705-08		21329781	112522114	12	3140											
DDX55	57696	broad.mit.edu	37	chr12	124101060	124101060	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttttttctcatttcctagtgGgattttagtgtgcactgatg	6	20	9	6	0	1	1	1	1	1	0	3	2	2	2	1	1	1	1	1	1	2	7			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr12:124101060G>T	uc001ufi.3	+	9	983	c.959G>T	c.(958-960)gGg>gTg	p.G320V	DDX55_uc001ufh.3_Missense_Mutation_p.G173V|DDX55_uc001ufj.1_Missense_Mutation_p.G173V|DDX55_uc001ufk.3_Missense_Mutation_p.G173V|DDX55_uc001ufl.3_5'Flank	NM_020936	NP_065987	Q8NHQ9	DDX55_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 (DDX55), mRNA.	320	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		TTTCCTAGTGGGATTTTAGTG	0.473													4	67					5.9392e-07	6.53312e-07	0.217242	1	0	T	124101060	G	T	124101060	3	4	73	1	0	0	0	0	1	0	0	0	4373	1232	43	5	997	5	DDX55	12	124101060	Missense_Mutation	SNP	G	TCGA-DU-6401-01A-11D-1705-08	102771279	124101060	9750835	13	3141											
ZFYVE26	23503	broad.mit.edu	37	chr14	68251787	68251787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctacctaccaggctcagagCtcaaactttgaaggagaact	13	8	9	11	0	2	3	2	1	0	2	2	4	2	3	2	2	5	3	2	2	5	3			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr14:68251787C>T	uc001xka.2	-	18	3651	c.3512G>A	c.(3511-3513)aGc>aAc	p.S1171N	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.S1171N	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	1171					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGGCTCAGAGCTCAAACTTTG	0.502													69	101					0	0	0.870114	0	0	T	68251787	C	T	68251787	3	4	73	1	0	0	0	0	1	0	0	0	17665	797	28	3	4203	3	ZFYVE26	14	68251787	Missense_Mutation	SNP	C	TCGA-DU-6401-01A-11D-1705-08		68251787	39097753	14	3142											
DYNC1H1	1778	broad.mit.edu	37	chr14	102508452	102508452	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaacacgcagatcacttcaAttgcaatcggtaaggatgct	14	9	9	9	2	2	2	2	0	0	2	3	3	2	3	0	2	3	4	0	2	4	3			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr14:102508452A>G	uc001yks.2	+	65	12369	c.12205A>G	c.(12205-12207)Att>Gtt	p.I4069V		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	4069	AAA 6 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	p.S4068L(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GATCACTTCAATTGCAATCGG	0.537													11	18					0	0	0.411799	0	0	G	102508452	A	G	102508452	3	3	73	1	0	0	0	0	1	0	0	0	4841	101	4	3	12467	3	DYNC1H1	14	102508452	Missense_Mutation	SNP	A	TCGA-DU-6401-01A-11D-1705-08	34256665	102508452	4841088	15	3143											
XPO6	23214	broad.mit.edu	37	chr16	28137080	28137080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gataaagtactcggccaggcGgcccacggcctgcagcaggg	9	4	15	13	3	0	0	0	0	0	0	1	1	0	0	3	5	3	3	3	5	3	2			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr16:28137080G>A	uc002dpa.1	-	12	2197	c.1696C>T	c.(1696-1698)Cgc>Tgc	p.R566C	XPO6_uc002dpb.1_Missense_Mutation_p.R552C|XPO6_uc010vcp.1_Missense_Mutation_p.R566C	NM_015171	NP_055986	Q96QU8	XPO6_HUMAN	Homo sapiens exportin 6 (XPO6), mRNA.	566					protein export from nucleus		protein binding|protein transporter activity	p.R566L(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TCGGCCAGGCGGCCCACGGCC	0.582													29	111					0	0	0.729181	0	0	A	28137080	G	A	28137080	3	1	73	1	0	0	0	0	1	0	0	0	17445	1116	39	2	1729	2	XPO6	16	28137080	Missense_Mutation	SNP	G	TCGA-DU-6401-01A-11D-1705-08		28137080	62217673	16	3144											
ITGAD	3681	broad.mit.edu	37	chr16	31419095	31419095	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgctgcaggtgggacaCgctttccagggacccactgc	6	9	12	14	1	1	0	0	0	1	0	3	2	2	2	2	3	3	3	2	3	0	1			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr16:31419095C>T	uc010cap.1	+	8	916	c.867C>T	c.(865-867)caC>caT	p.H289H	ITGAD_uc010vfl.1_Missense_Mutation_p.R322C|ITGAD_uc002ebv.1_Silent_p.H289H|ITGAD_uc002ebw.1_Missense_Mutation_p.R133C	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	289	VWFA.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.G288*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGGTGGGACACGCTTTCCAGG	0.617													17	21					0	0	0.557998	0	0	T	31419095	C	T	31419095	2	4	73	1	0	0	0	0	0	0	0	1	7884	535	19	1		1	ITGAD	16	31419095	Silent	SNP	C	TCGA-DU-6401-01A-11D-1705-08	3282015	31419095	58935658	17	3145											
TP53	7157	broad.mit.edu	37	chr17	7574018	7574018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctcggaacatctcgaagcGctcacgcccacggatctgca	9	7	9	16	5	4	0	1	0	3	0	6	3	4	2	1	2	3	2	1	2	2	0			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr17:7574018G>A	uc002gim.2	-	9	1203	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Intron|TP53_uc010cne.1_Intron|TP53_uc010cng.1_3'UTR|TP53_uc010cnf.1_3'UTR|TP53_uc002gii.1_Missense_Mutation_p.R205C|TP53_uc010cni.1_3'UTR|TP53_uc010cnh.1_3'UTR|TP53_uc002gij.2_Missense_Mutation_p.R337C|DL476313_uc021tpe.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	337	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R337C(34)|p.R337L(10)|p.0?(8)|p.E336*(5)|p.R337fs*8(3)|p.R337H(3)|p.R337G(2)|p.?(1)|p.E336fs*12(1)|p.I332fs*5(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)		ATCTCGAAGCGCTCACGCCCA	0.522		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)			17	8					0	0	0.557998	0	0	A	7574018	G	A	7574018	3	1	73	1	0	0	0	0	1	0	0	0	16378	1087	38	1	180	1	TP53	17	7574018	Missense_Mutation	SNP	G	TCGA-DU-6401-01A-11D-1705-08		7574018	73621192	18	3146											
MYH4	4622	broad.mit.edu	37	chr17	10350460	10350460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgcatcaggttagctctgCgctcaaccattgccagttgt	7	12	9	13	1	3	0	2	0	1	0	3	0	3	0	3	1	5	5	3	1	2	3			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr17:10350460C>T	uc002gmn.3	-	34	5150	c.5039G>A	c.(5038-5040)cGc>cAc	p.R1680H	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1680					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1680C(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTTAGCTCTGCGCTCAACCAT	0.502													4	66					0	0	0.150653	0	0	T	10350460	C	T	10350460	3	4	73	1	0	0	0	0	1	0	0	0	10037	768	27	1	804	1	MYH4	17	10350460	Missense_Mutation	SNP	C	TCGA-DU-6401-01A-11D-1705-08	2776442	10350460	70844750	19	3147											
MAP2K3	5606	broad.mit.edu	37	chr17	21217496	21217496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcacaaaaccaagaagaCggacattgctgccttcgtga	13	8	9	11	2	0	3	0	1	0	2	1	4	0	4	2	1	4	2	2	1	4	3	rs35755743		TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr17:21217496C>T	uc002gys.3	+	11	1263	c.998C>T	c.(997-999)aCg>aTg	p.T333M	MAP2K3_uc002gyt.3_Missense_Mutation_p.T304M|MAP2K3_uc021tsq.1_Missense_Mutation_p.T304M|MAP2K3_uc021tsr.1_Missense_Mutation_p.T304M	NM_145109	NP_002747	P46734	MP2K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA.	333					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|innate immune response|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		ACCAAGAAGACGGACATTGCT	0.617													65	300					0	0	0.870114	0	0	T	21217496	C	T	21217496	3	4	73	1	0	0	0	0	1	0	0	0	9238	536	19	1	1044	1	MAP2K3	17	21217496	Missense_Mutation	SNP	C	TCGA-DU-6401-01A-11D-1705-08	10867036	21217496	59977714	20	3148											
TMC6	11322	broad.mit.edu	37	chr17	76116777	76116777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtccagcaacatgaggaCgaagtccatcaccaggaacc	13	5	10	13	2	1	1	1	1	0	0	3	4	3	3	4	2	3	1	4	2	3	0			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr17:76116777C>T	uc002juj.1	-	11	1798	c.1672G>A	c.(1672-1674)Gtc>Atc	p.V558I	TMC6_uc002jui.1_Intron|TMC6_uc010dhf.1_Missense_Mutation_p.V391I|TMC6_uc002juk.2_Missense_Mutation_p.V558I|TMC6_uc010dhg.1_Intron|TMC6_uc002jul.1_Missense_Mutation_p.V558I|TMC6_uc002jum.4_Missense_Mutation_p.V349I|TMC6_uc002jun.4_Missense_Mutation_p.V558I|TMC6_uc002juo.2_3'UTR	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	Homo sapiens transmembrane channel-like 6 (TMC6), transcript variant 2, mRNA.	558						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AACATGAGGACGAAGTCCATC	0.637													29	106					0	0	0.717897	0	0	T	76116777	C	T	76116777	3	4	73	1	0	0	0	0	1	0	0	0	15986	536	19	1	777	1	TMC6	17	76116777	Missense_Mutation	SNP	C	TCGA-DU-6401-01A-11D-1705-08	54899281	76116777	5078433	21	3149											
CEACAM5	1048	broad.mit.edu	37	chr19	42224879	42224879	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatttcccccccagactcGtcttacctttcgggagcgaa	8	11	7	15	3	2	1	1	0	1	1	5	3	3	2	4	1	2	0	4	1	2	3			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr19:42224879G>A	uc002orl.3	+	7	1930	c.1809G>A	c.(1807-1809)tcG>tcA	p.S603S	CEACAM5_uc002orj.1_Silent_p.S602S	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	603	Ig-like 7.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCCAGACTCGTCTTACCTTT	0.547													45	63					0	0	0.847076	0	0	A	42224879	G	A	42224879	2	1	73	1	0	0	0	0	0	0	0	1	3195	1132	40	1		1	CEACAM5	19	42224879	Silent	SNP	G	TCGA-DU-6401-01A-11D-1705-08		42224879	16904104	22	3150											
CELSR1	9620	broad.mit.edu	37	chr22	46929726	46929726	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggggaaactgttggacttGttggtgacatagttgttgaa	9	14	15	3	0	0	2	0	2	0	0	0	4	0	4	0	4	1	4	0	4	3	6			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr22:46929726G>C	uc003bhw.1	-	0	3342	c.3342C>G	c.(3340-3342)aaC>aaG	p.N1114K		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1114	Cadherin 9.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGTTGGACTTGTTGGTGACAT	0.592													78	91					0	0	0.870114	0	0	C	46929726	G	C	46929726	3	2	73	1	0	0	0	0	1	0	0	0	3221	1368	48	5	5842	5	CELSR1	22	46929726	Missense_Mutation	SNP	G	TCGA-DU-6401-01A-11D-1705-08		46929726	4374840	23	3151											
CXorf23	256643	broad.mit.edu	37	chrX	19983583	19983583	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccatccaagagcttaggacGtttgtgacgatagtcatagg	11	10	11	9	2	1	2	1	1	0	1	2	4	2	3	2	2	1	2	2	2	4	4			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chrX:19983583G>T	uc004czp.3	-	2	853	c.853C>A	c.(853-855)Cgt>Agt	p.R285S	CXorf23_uc011mjg.2_5'UTR|CXorf23_uc004czo.3_Missense_Mutation_p.R235S	NM_198279	NP_938020	A2AJT9	CX023_HUMAN	Homo sapiens chromosome X open reading frame 23 (CXorf23), mRNA.	285						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						AGCTTAGGACGTTTGTGACGA	0.458													36	33					1.47244e-24	1.79965e-24	0.819951	1	0	T	19983583	G	T	19983583	3	4	73	1	0	0	0	0	1	0	0	0	4103	1145	40	5	1231	5	CXorf23	23	19983583	Missense_Mutation	SNP	G	TCGA-DU-6401-01A-11D-1705-08		19983583	135286977	24	3152											
HDAC6	10013	broad.mit.edu	37	chrX	48682452	48682452	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtggaacaatccaagagAattgggtgtgtctctcttgc	10	12	11	8	0	2	1	0	0	2	1	4	3	3	2	1	2	2	0	1	2	4	2			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chrX:48682452A>G	uc011mmi.1	+	26	3519	c.3424A>G	c.(3424-3426)Aat>Gat	p.N1142D	HDAC6_uc004dks.1_Missense_Mutation_p.N1142D|HDAC6_uc010nig.1_Missense_Mutation_p.N990D|HDAC6_uc004dkt.1_Missense_Mutation_p.N1142D|HDAC6_uc011mmk.1_Missense_Mutation_p.N1123D|HDAC6_uc004dkv.1_Missense_Mutation_p.N790D|HDAC6_uc004dkw.1_Missense_Mutation_p.N790D|HDAC6_uc004dkx.1_Missense_Mutation_p.N505D	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	Homo sapiens histone deacetylase 6 (HDAC6), mRNA.	1142					Hsp90 deacetylation|aggresome assembly|cellular response to hydrogen peroxide|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	Hsp90 protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|microtubule binding|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	AATCCAAGAGAATTGGGTGTG	0.592													5	48					0	0	0.184627	0	0	G	48682452	A	G	48682452	3	3	73	1	0	0	0	0	1	0	0	0	7011	246	9	3	3526	3	HDAC6	23	48682452	Missense_Mutation	SNP	A	TCGA-DU-6401-01A-11D-1705-08	28698869	48682452	106588108	25	3153											
ATRX	546	broad.mit.edu	37	chrX	76939673	76939674	+	Frame_Shift_Ins	INS	-	-	T																															ttggctgtggtctcaatcagINStttttttgccttcttaatca																										TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chrX:76939673_76939674insT	uc004ecp.4	-	8	1306_1307	c.1074_1075insA	c.(1072-1077)aaactgfs	p.K358fs	ATRX_uc004ecq.4_Frame_Shift_Ins_p.K320fs|ATRX_uc004eco.4_Frame_Shift_Ins_p.K143fs|ATRX_uc004ecr.2_Frame_Shift_Ins_p.K319fs|ATRX_uc010nlx.1_Frame_Shift_Ins_p.K358fs|ATRX_uc010nly.1_Frame_Shift_Ins_p.K303fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	358					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GTCTCAATCAGTTTTTTTGCCT	0.366			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						52	95	---	---	---	---						T	76939674	-	T	76939673	7	5	73	1	0	1	1	0	0	0	0	0	1208	1020	36	0	6511	0	ATRX	23	76939673	Frame_Shift_Ins	INS	-	TCGA-DU-6401-01A-11D-1705-08	28257221	76939673	78330887	26	3154											
LPAR4	2846	broad.mit.edu	37	chrX	78010568	78010568	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgtcttctgtttccgcAtgaaaatgagaagtgagact	10	15	10	6	1	2	3	0	3	2	2	3	5	3	3	1	0	0	3	1	0	3	3			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chrX:78010568A>G	uc022bzj.1	+	0	202	c.202A>G	c.(202-204)Atg>Gtg	p.M68V	LPAR4_uc010nme.3_Missense_Mutation_p.M68V	NM_005296	NP_005287	Q99677	LPAR4_HUMAN	Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA.	68						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CTGTTTCCGCATGAAAATGAG	0.358													49	251					0	0	0.870114	0	0	G	78010568	A	G	78010568	3	3	73	1	0	0	0	0	1	0	0	0	8907	217	8	3	204	3	LPAR4	23	78010568	Missense_Mutation	SNP	A	TCGA-DU-6401-01A-11D-1705-08	1070895	78010568	77259992	27	3155											
GLUD2	2747	broad.mit.edu	37	chrX	120182836	120182836	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agatctctacttgaatgctgGaggagtgacagtatcttact	11	13	10	7	0	2	3	0	2	2	1	3	5	2	5	0	2	3	2	0	2	4	4			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chrX:120182836G>A	uc004eto.3	+	0	1375	c.1298G>A	c.(1297-1299)gGa>gAa	p.G433E		NM_012084	NP_036216	P49448	DHE4_HUMAN	Homo sapiens glutamate dehydrogenase 2 (GLUD2), nuclear gene encoding mitochondrial protein, mRNA.	433					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|GTP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	TTGAATGCTGGAGGAGTGACA	0.418													18	191					0	0	0.608945	0	0	A	120182836	G	A	120182836	3	1	73	1	0	0	0	0	1	0	0	0	6477	1174	41	3	1300	3	GLUD2	23	120182836	Missense_Mutation	SNP	G	TCGA-DU-6401-01A-11D-1705-08	42172268	120182836	35087724	28	3156											
MAGEC1	9947	broad.mit.edu	37	chrX	140995655	140995655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccttcccctcctccacttCatcgagtctttcccagagtt	5	14	4	18	1	2	1	1	0	1	1	8	2	7	1	6	0	0	1	6	0	0	4			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chrX:140995655C>T	uc004fbt.3	+	3	2789	c.2465C>T	c.(2464-2466)tCa>tTa	p.S822L	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.S481L	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	822							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCCACTTCATCGAGTCTT	0.562										HNSCC(15;0.026)			10	209					0	0	0.361761	0	0	T	140995655	C	T	140995655	3	4	73	1	0	0	0	0	1	0	0	0	9180	838	29	3	2471	3	MAGEC1	23	140995655	Missense_Mutation	SNP	C	TCGA-DU-6401-01A-11D-1705-08	20812819	140995655	14274905	29	3157											
PLOD1	5351	broad.mit.edu	37	chr1	12034759	12034759	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgttccatccgagccccaaGgaagggctggaccctcatgc	8	7	11	15	1	1	0	1	0	0	0	3	3	3	2	5	3	2	2	5	3	2	1			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr1:12034759G>T	uc010obb.2	+	19	2332	c.2219G>T	c.(2218-2220)aGg>aTg	p.R740M	PLOD1_uc001atm.3_Missense_Mutation_p.R693M	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1), mRNA.	693					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CGAGCCCCAAGGAAGGGCTGG	0.647													3	30					0.115264	0.119814	0.115264	1	0	T	12034759	G	T	12034759	3	4	74	1	0	0	0	0	1	0	0	0	12101	1000	35	5	2152	5	PLOD1	1	12034759	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08		12034759	237215862	1	3158											
PRAMEF4	400735	broad.mit.edu	37	chr1	12941802	12941802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcttctgctctggggaaaCgtagcgagagacatccatgt	9	11	11	10	2	3	1	0	0	3	1	4	4	4	2	1	2	3	2	1	2	2	3			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr1:12941802C>T	uc001aun.2	-	2	819	c.748G>A	c.(748-750)Gtt>Att	p.V250I		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	250										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGGGGAAACGTAGCGAGAG	0.488													78	159					0	0	0.139131	0	0	T	12941802	C	T	12941802	3	4	74	1	0	0	0	0	1	0	0	0	12437	536	19	1	696	1	PRAMEF4	1	12941802	Missense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08	907043	12941802	236308819	2	3159											
HIST2H2BE	8349	broad.mit.edu	37	chr1	149858178	149858178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggggccggagcggattttgCcggttcaggcatggtaagac	8	8	17	8	3	1	1	1	0	0	1	1	3	1	3	2	7	2	3	2	7	1	4			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr1:149858178C>T	uc001etc.3	-	0	55	c.13G>A	c.(13-15)Gca>Aca	p.A5T	HIST2H2AC_uc001etd.3_5'Flank	NM_003528	NP_003519	Q16778	H2B2E_HUMAN	Homo sapiens histone cluster 2, H2be (HIST2H2BE), mRNA.	5				A -> S (in Ref. 7; AAH98112/AAH98289).	defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.P4L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCGGATTTTGCCGGTTCAGGC	0.507													3	45					0	0	0.115264	0	0	T	149858178	C	T	149858178	3	4	74	1	0	0	0	0	1	0	0	0	7179	739	26	3	371	3	HIST2H2BE	1	149858178	Missense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08	136916376	149858178	99392443	3	3160											
TCHH	7062	broad.mit.edu	37	chr1	152082385	152082385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcctctcccgctcctggCgccttctcttctccggttcc	1	14	7	19	3	3	0	0	0	3	0	8	0	5	0	6	2	1	2	6	2	0	4			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr1:152082385C>T	uc009wne.1	-	2	3580	c.3308G>A	c.(3307-3309)cGc>cAc	p.R1103H	TCHH_uc001ezp.2_Missense_Mutation_p.R1103H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1103	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGCTCCTGGCGCCTTCTCTT	0.612													19	42					0	0	0.219247	0	0	T	152082385	C	T	152082385	3	4	74	1	0	0	0	0	1	0	0	0	15697	768	27	1	2527	1	TCHH	1	152082385	Missense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08	2224207	152082385	97168236	4	3161											
CD1E	913	broad.mit.edu	37	chr1	158324220	158324220	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggagcagctgtccttcCgcatgctccaaacttcctcc	8	9	8	16	1	0	1	0	0	0	1	5	2	5	2	5	1	4	4	5	1	1	2			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr1:158324220C>T	uc001fse.3	+	1	405	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C	CD1E_uc010pid.2_Missense_Mutation_p.R36C|CD1E_uc010pie.2_Intron|CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Missense_Mutation_p.R38C|CD1E_uc001fsf.3_Missense_Mutation_p.R38C|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Intron|CD1E_uc001fsj.3_Missense_Mutation_p.R38C|CD1E_uc001fsk.3_Missense_Mutation_p.R38C|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Missense_Mutation_p.R38C|CD1E_uc001frz.3_Missense_Mutation_p.R38C|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Intron|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	38					antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen		p.R38C(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GCTGTCCTTCCGCATGCTCCA	0.542													27	86					0	0	0.108266	0	0	T	158324220	C	T	158324220	3	4	74	1	0	0	0	0	1	0	0	0	2978	652	23	2	118	2	CD1E	1	158324220	Missense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08	6241835	158324220	90926401	5	3162											
RYR2	6262	broad.mit.edu	37	chr1	237777663	237777663	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccctgatgagaacaaaaaAcacggccttccagggatcgg	13	7	10	11	2	0	2	0	2	0	1	3	4	2	3	3	3	2	0	3	3	4	2			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr1:237777663A>T	uc001hyl.1	+	36	5355	c.5235A>T	c.(5233-5235)aaA>aaT	p.K1745N		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1745	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.H1744R(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGAACAAAAAACACGGCCTTC	0.517													10	19					0	0	0.080935	0	0	T	237777663	A	T	237777663	3	4	74	1	0	0	0	0	1	0	0	0	13769	40	2	5	5381	5	RYR2	1	237777663	Missense_Mutation	SNP	A	TCGA-DU-6402-01A-11D-1705-08	79453443	237777663	11472958	6	3163											
PDIA6	10130	broad.mit.edu	37	chr2	10929977	10929977	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcataatccacaggagactcGcctttctgaaatatcttgat	12	13	6	10	1	3	3	1	2	2	1	5	4	4	3	2	1	0	0	2	1	3	4			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr2:10929977G>A	uc002rau.3	-	7	876	c.738C>T	c.(736-738)ggC>ggT	p.G246G	PDIA6_uc010yjg.2_Silent_p.G243G|PDIA6_uc002rav.3_Silent_p.G298G|PDIA6_uc010yjh.2_Silent_p.G251G|PDIA6_uc002raw.3_Silent_p.G294G	NM_005742	NP_005733	Q15084	PDIA6_HUMAN	Homo sapiens protein disulfide isomerase family A, member 6 (PDIA6), mRNA.	246	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		CAGGAGACTCGCCTTTCTGAA	0.423													21	54					0	0	0.069288	0	0	A	10929977	G	A	10929977	2	1	74	1	0	0	0	0	0	0	0	1	11672	1074	38	1		1	PDIA6	2	10929977	Silent	SNP	G	TCGA-DU-6402-01A-11D-1705-08		10929977	232269396	7	3164											
KCNS3	3790	broad.mit.edu	37	chr2	18113581	18113581	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagagaagtgtcatgagctaCcttactttaacattagggat	13	12	9	7	0	1	2	1	1	0	1	1	4	1	3	1	1	4	1	1	1	5	5			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr2:18113581C>A	uc021veh.1	+	0	1306	c.1306C>A	c.(1306-1308)Cct>Act	p.P436T	KCNS3_uc002rcv.3_Missense_Mutation_p.P436T|KCNS3_uc002rcw.3_Missense_Mutation_p.P436T	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA.	436					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCATGAGCTACCTTACTTTAA	0.453													32	61					5.09552e-08	5.51433e-08	0.153744	1	0	A	18113581	C	A	18113581	3	1	74	1	0	0	0	0	1	0	0	0	8090	507	18	5	1308	5	KCNS3	2	18113581	Missense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08	7183604	18113581	225085792	8	3165											
C2orf63	130162	broad.mit.edu	37	chr2	55404777	55404777	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgaagtagcttaatgcCaacttttttcatgtctgcag	9	17	7	8	0	3	1	1	1	2	0	3	1	3	1	1	0	4	3	1	0	4	7			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr2:55404777C>G	uc002ryi.2	-	11	1871	c.1525G>C	c.(1525-1527)Ggc>Cgc	p.G509R	C2orf63_uc002ryh.2_Missense_Mutation_p.G60R|C2orf63_uc002ryj.2_Missense_Mutation_p.G387R	NM_152385	NP_001129070	Q8NHS4	CB063_HUMAN	Homo sapiens chromosome 2 open reading frame 63 (C2orf63), transcript variant 1, mRNA.	509							binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)			AGCTTAATGCCAACTTTTTTC	0.353													16	45					0	0	0.175082	0	0	G	55404777	C	G	55404777	3	3	74	1	0	0	0	0	1	0	0	0	2182	594	21	5	243	5	C2orf63	2	55404777	Missense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08	37291196	55404777	187794596	9	3166											
COBLL1	22837	broad.mit.edu	37	chr2	165578649	165578649	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggcctctcctggatgtgtGcaaggtcttgggggacactc	6	10	14	11	0	2	0	0	0	2	0	4	2	2	2	2	5	1	1	2	5	1	1			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr2:165578649G>T	uc002ucp.3	-	5	1154	c.932C>A	c.(931-933)gCa>gAa	p.A311E	COBLL1_uc002ucq.3_Missense_Mutation_p.A311E|COBLL1_uc010zcw.2_Missense_Mutation_p.A377E|COBLL1_uc010zcx.2_Missense_Mutation_p.A357E|COBLL1_uc002ucs.1_Non-coding_Transcript|COBLL1_uc002uco.3_Missense_Mutation_p.A80E	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	349										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CTGGATGTGTGCAAGGTCTTG	0.488													21	57					2.37509e-13	2.64271e-13	0.219247	1	0	T	165578649	G	T	165578649	3	4	74	1	0	0	0	0	1	0	0	0	3654	1319	46	5	2604	5	COBLL1	2	165578649	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08	110173872	165578649	77620724	10	3167											
SPHKAP	80309	broad.mit.edu	37	chr2	228890206	228890206	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttggacattcatggaactGataagttttggaagatctgg	11	14	12	4	0	2	2	1	1	1	1	2	5	2	5	0	4	1	2	0	4	3	5			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr2:228890206G>A	uc002vpq.2	-	4	392	c.345C>T	c.(343-345)atC>atT	p.I115I	SPHKAP_uc002vpp.2_Silent_p.I115I|SPHKAP_uc010zlx.1_Silent_p.I115I	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	115						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCATGGAACTGATAAGTTTTG	0.363													5	96					0	0	0.217242	0	0	A	228890206	G	A	228890206	2	1	74	1	0	0	0	0	0	0	0	1	15047	1280	45	3		3	SPHKAP	2	228890206	Silent	SNP	G	TCGA-DU-6402-01A-11D-1705-08	63311557	228890206	14309167	11	3168											
B3GNT7	93010	broad.mit.edu	37	chr2	232263412	232263412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctctacccgatcgacgacGtctttctgggcatgtgcctg	6	11	11	13	4	3	0	0	0	3	0	4	3	3	0	2	1	3	2	2	1	1	2			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr2:232263412G>A	uc002vrs.3	+	1	1162	c.982G>A	c.(982-984)Gtc>Atc	p.V328I		NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 (B3GNT7), mRNA.	328					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GATCGACGACGTCTTTCTGGG	0.672													16	34					0	0	0.146539	0	0	A	232263412	G	A	232263412	3	1	74	1	0	0	0	0	1	0	0	0	1262	1145	40	1	988	1	B3GNT7	2	232263412	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08	3373206	232263412	10935961	12	3169											
GIGYF2	26058	broad.mit.edu	37	chr2	233681681	233681681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaacaggaggaaattcttcGgcgacagcaggaagaagaaa	18	4	12	7	2	1	2	0	0	1	2	2	6	1	5	0	4	2	1	0	4	5	2	rs149585458		TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr2:233681681G>A	uc002vtj.4	+	21	2639	c.2372G>A	c.(2371-2373)cGg>cAg	p.R791Q	GIGYF2_uc010zmj.1_Missense_Mutation_p.R770Q|GIGYF2_uc002vtg.2_Missense_Mutation_p.R764Q|GIGYF2_uc002vti.4_Missense_Mutation_p.R770Q|GIGYF2_uc002vtk.4_Missense_Mutation_p.R770Q|GIGYF2_uc002vth.4_Missense_Mutation_p.R764Q|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc010zml.1_Missense_Mutation_p.R601Q|GIGYF2_uc002vtq.4_Missense_Mutation_p.R103Q	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	770	Gln-rich.|Glu-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GAAATTCTTCGGCGACAGCAG	0.488													65	105					0	0	0.139131	0	0	A	233681681	G	A	233681681	3	1	74	1	0	0	0	0	1	0	0	0	6378	1116	39	2	2449	2	GIGYF2	2	233681681	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08	1418269	233681681	9517692	13	3170											
HTR3C	170572	broad.mit.edu	37	chr3	183774718	183774718	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctatatcagcagtgaaggtCgaattaagtatgataagcca	15	10	9	7	1	1	2	1	2	0	0	2	3	1	2	2	1	2	2	2	1	7	5			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr3:183774718C>T	uc003fmk.3	+	4	479	c.445C>T	c.(445-447)Cga>Tga	p.R149*		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA.	149						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	p.R149*(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CAGTGAAGGTCGAATTAAGTA	0.478													37	100					0	0	0.246493	0	0	T	183774718	C	T	183774718	4	4	74	1	0	0	0	0	0	1	0	0	7446	876	31	2	463	2	HTR3C	3	183774718	Nonsense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08		183774718	14247712	14	3171											
CLCN2	1181	broad.mit.edu	37	chr3	184075764	184075764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agttacctctttgccaagcgGcatcccgctgcctagggcgc	6	9	11	15	3	1	0	0	0	1	0	2	0	2	0	4	2	4	3	4	2	3	3			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr3:184075764G>A	uc003foi.3	-	4	725	c.601C>T	c.(601-603)Ccg>Tcg	p.P201S	CLCN2_uc003foh.3_5'Flank|CLCN2_uc010hya.2_Missense_Mutation_p.P201S|CLCN2_uc011brl.2_Missense_Mutation_p.P201S|CLCN2_uc011brm.2_Missense_Mutation_p.P157S|CLCN2_uc011brn.1_Missense_Mutation_p.P201S	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	201						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TTGCCAAGCGGCATCCCGCTG	0.597													3	43					0	0	0.150653	0	0	A	184075764	G	A	184075764	3	1	74	1	0	0	0	0	1	0	0	0	3463	1203	42	3	2175	3	CLCN2	3	184075764	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08	301046	184075764	13946666	15	3172											
PROM1	8842	broad.mit.edu	37	chr4	15991422	15991422	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtttgtgcatctcttttcAgggagttcctcaaatttcct	7	18	7	9	0	3	0	2	0	1	0	6	1	5	1	2	1	1	3	2	1	2	6			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr4:15991422A>G	uc003goo.2	-	17	2221	c.2009T>C	c.(2008-2010)cTg>cCg	p.L670P	PROM1_uc003gor.2_Missense_Mutation_p.L670P|PROM1_uc003gos.2_Missense_Mutation_p.L661P|PROM1_uc003got.2_Missense_Mutation_p.L670P|PROM1_uc003gou.2_Missense_Mutation_p.L661P|PROM1_uc003gop.2_Missense_Mutation_p.L661P|PROM1_uc003goq.3_Missense_Mutation_p.L661P	NM_006017	NP_006008	O43490	PROM1_HUMAN	Homo sapiens prominin 1 (PROM1), transcript variant 1, mRNA.	670					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						ATCTCTTTTCAGGGAGTTCCT	0.413													4	5					0	0	0.217242	0	0	G	15991422	A	G	15991422	3	3	74	1	0	0	0	0	1	0	0	0	12555	188	7	4	624	4	PROM1	4	15991422	Missense_Mutation	SNP	A	TCGA-DU-6402-01A-11D-1705-08		15991422	175162854	16	3173											
CCKAR	886	broad.mit.edu	37	chr4	26483467	26483467	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggttgacgcaggaggaggtGtaggacaggaggaggatgaa	12	5	21	3	1	0	2	0	2	0	0	0	8	0	8	0	8	0	3	0	8	2	2	rs150897748		TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr4:26483467G>A	uc003gse.1	-	4	1233	c.1080C>T	c.(1078-1080)taC>taT	p.Y360Y		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	360					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AGGAGGAGGTGTAGGACAGGA	0.627													20	81					0	0	0.204396	0	0	A	26483467	G	A	26483467	2	1	74	1	0	0	0	0	0	0	0	1	2880	1372	48	3		3	CCKAR	4	26483467	Silent	SNP	G	TCGA-DU-6402-01A-11D-1705-08	10492045	26483467	164670809	17	3174											
UGT2B17	7367	broad.mit.edu	37	chr4	69434170	69434170	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtaacaactgagctgcatCagcagaaagactgacatcca	17	6	8	10	0	1	4	1	2	0	2	2	4	2	4	1	0	5	4	1	0	4	1			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr4:69434170C>T	uc021xov.1	-	0	76	c.33G>A	c.(31-33)ctG>ctA	p.L11L		NM_001077	NP_001068	O75795	UDB17_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B17 (UGT2B17), mRNA.	11					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TGAGCTGCATCAGCAGAAAGA	0.423													43	288					0	0	0.139131	0	0	T	69434170	C	T	69434170	2	4	74	1	0	0	0	0	0	0	0	1	16956	813	29	3		3	UGT2B17	4	69434170	Silent	SNP	C	TCGA-DU-6402-01A-11D-1705-08	42950703	69434170	121720106	18	3175											
PPEF2	5470	broad.mit.edu	37	chr4	76812812	76812812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catactcactgtcgttgtggCtgctggggatgaagtgatcc	7	12	13	9	1	1	2	1	2	0	0	3	3	2	3	1	3	2	3	1	3	2	2			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr4:76812812C>T	uc003hix.3	-	3	587	c.230G>A	c.(229-231)aGc>aAc	p.S77N	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.S77N	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	77					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GTCGTTGTGGCTGCTGGGGAT	0.522													85	173					0	0	0.139131	0	0	T	76812812	C	T	76812812	3	4	74	1	0	0	0	0	1	0	0	0	12308	797	28	3	2087	3	PPEF2	4	76812812	Missense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08	7378642	76812812	114341464	19	3176											
FAT4	79633	broad.mit.edu	37	chr4	126239159	126239159	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcagtgaacatagcggcctCgtgaccactgggtcctctgg	8	9	12	12	2	2	2	1	2	1	0	4	2	3	2	3	3	2	0	3	3	2	1			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr4:126239159C>T	uc003ifj.4	+	0	1593	c.1593C>T	c.(1591-1593)ctC>ctT	p.L531L		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	531	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATAGCGGCCTCGTGACCACTG	0.547											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	29					0	0	0.132662	0	0	T	126239159	C	T	126239159	2	4	74	1	0	0	0	0	0	0	0	1	5692	871	31	2		2	FAT4	4	126239159	Silent	SNP	C	TCGA-DU-6402-01A-11D-1705-08	49426347	126239159	64915117	20	3177											
MARCH11	441061	broad.mit.edu	37	chr5	16067657	16067657	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatggggcctcatccgatTgaacaggtgcaataacacat	12	10	9	10	1	2	1	2	1	0	0	3	2	3	1	2	3	3	1	2	3	3	3			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr5:16067657T>C	uc003jfo.2	-	3	1345	c.1132A>G	c.(1132-1134)Aat>Gat	p.N378D	MARCH11_uc010itw.1_Missense_Mutation_p.N134D	NM_001102562	NP_001096032	A6NNE9	MARHB_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 11 (MARCH11), mRNA.	378						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						CTCATCCGATTGAACAGGTGC	0.478													41	116					0	0	0.11126	0	0	C	16067657	T	C	16067657	3	2	74	1	0	0	0	0	1	0	0	0	9300	1812	63	3	80	3	MARCH11	5	16067657	Missense_Mutation	SNP	T	TCGA-DU-6402-01A-11D-1705-08		16067657	164847603	21	3178											
PCDHAC2	56134	broad.mit.edu	37	chr5	140176070	140176070	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcgcgcgttgtcgagctaCgtttcggtgcacgcggagag	6	8	17	10	8	0	1	0	0	0	1	2	4	0	1	0	2	4	4	0	2	1	3			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr5:140176070C>T	uc003lhd.2	+	0	1627	c.1521C>T	c.(1519-1521)taC>taT	p.Y507Y	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.Y507Y|PCDHAC2_uc011czy.2_Silent_p.Y507Y	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	521	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCGAGCTACGTTTCGGTGC	0.682													11	38					0	0	0.132662	0	0	T	140176070	C	T	140176070	2	4	74	1	0	0	0	0	0	0	0	1	11533	547	19	1		1	PCDHAC2	5	140176070	Silent	SNP	C	TCGA-DU-6402-01A-11D-1705-08	124108413	140176070	40739190	22	3179											
PCDHB2	56133	broad.mit.edu	37	chr5	140475880	140475880	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggacccgcacctgcccctCgcctccctggtctccatcaa	6	7	7	21	2	2	0	1	0	1	0	5	1	3	1	7	2	1	1	7	2	1	0			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr5:140475880C>T	uc003lil.3	+	0	1644	c.1506C>T	c.(1504-1506)ctC>ctT	p.L502L	PCDHB2_uc003lim.1_Silent_p.L163L	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	502	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCTGCCCCTCGCCTCCCTGG	0.692													13	89					0	0	0.132662	0	0	T	140475880	C	T	140475880	2	4	74	1	0	0	0	0	0	0	0	1	11542	871	31	2		2	PCDHB2	5	140475880	Silent	SNP	C	TCGA-DU-6402-01A-11D-1705-08	299810	140475880	40439380	23	3180											
PKHD1	5314	broad.mit.edu	37	chr6	51882309	51882309	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatgtagaggtaaggccaCgattcaagcagttgctctgt	12	10	11	8	1	2	1	1	0	1	1	2	2	2	1	1	2	2	5	1	2	4	4			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr6:51882309C>T	uc003pah.1	-	33	5775	c.5499G>A	c.(5497-5499)tcG>tcA	p.S1833S	PKHD1_uc003pai.3_Silent_p.S1833S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1833			S -> L (in ARPKD).		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)					GGTAAGGCCACGATTCAAGCA	0.512													25	105					0	0	0.0918	0	0	T	51882309	C	T	51882309	2	4	74	1	0	0	0	0	0	0	0	1	11971	523	19	1		1	PKHD1	6	51882309	Silent	SNP	C	TCGA-DU-6402-01A-11D-1705-08		51882309	119232758	24	3181											
DDC	1644	broad.mit.edu	37	chr7	50611629	50611629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgatgatgtcctcaaacGtgtctggctcctgaggggca	7	11	13	10	2	2	3	1	3	1	0	4	3	4	3	2	3	1	3	2	3	1	1			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr7:50611629G>A	uc003tpg.4	-	1	356	c.155C>T	c.(154-156)aCg>aTg	p.T52M	DDC_uc022ade.1_Missense_Mutation_p.T52M|DDC_uc003tpf.4_Missense_Mutation_p.T52M|DDC_uc022adb.1_Missense_Mutation_p.T52M|DDC_uc022adc.1_Missense_Mutation_p.T52M|DDC_uc022add.1_Missense_Mutation_p.T52M|DDC_uc022adf.1_Missense_Mutation_p.T52M	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	52					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	GTCCTCAAACGTGTCTGGCTC	0.557													37	136					0	0	0.225048	0	0	A	50611629	G	A	50611629	3	1	74	1	0	0	0	0	1	0	0	0	4325	1145	40	1	1339	1	DDC	7	50611629	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08		50611629	108527034	25	3182											
GRM3	2913	broad.mit.edu	37	chr7	86415593	86415593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaggtggcaaacctgctgcGgctcttccagatccctcaga	8	9	10	14	1	2	2	1	0	1	2	4	2	4	2	3	3	3	3	3	3	2	2			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr7:86415593G>A	uc003uid.3	+	2	1584	c.485G>A	c.(484-486)cGg>cAg	p.R162Q	GRM3_uc010lef.3_Missense_Mutation_p.R160Q|GRM3_uc010leg.3_Missense_Mutation_p.R34Q|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	162					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AACCTGCTGCGGCTCTTCCAG	0.522													63	232					0	0	0.139131	0	0	A	86415593	G	A	86415593	3	1	74	1	0	0	0	0	1	0	0	0	6798	1116	39	2	491	2	GRM3	7	86415593	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08	35803964	86415593	72723070	26	3183											
SLC26A3	1811	broad.mit.edu	37	chr7	107423751	107423751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgccgaagcaatctcctaCggtgttttggaaagtctcca	10	11	10	10	2	2	0	0	0	2	0	4	3	2	1	3	2	3	2	3	2	4	3			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr7:107423751C>T	uc003ver.2	-	8	1229	c.1018G>A	c.(1018-1020)Gta>Ata	p.V340I	SLC26A3_uc003ves.2_Missense_Mutation_p.V305I	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	340					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CAATCTCCTACGGTGTTTTGG	0.418													19	77					0	0	0.204396	0	0	T	107423751	C	T	107423751	3	4	74	1	0	0	0	0	1	0	0	0	14518	536	19	1	1328	1	SLC26A3	7	107423751	Missense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08	21008158	107423751	51714912	27	3184											
BRAF	673	broad.mit.edu	37	chr7	140453154	140453154	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgtagctagaccaaaaTcacctatttttactgtgagg	12	13	7	9	0	2	2	2	1	0	1	2	2	2	2	2	1	2	2	2	1	6	6			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr7:140453154T>C	uc003vwc.4	-	14	1842	c.1781A>G	c.(1780-1782)gAt>gGt	p.D594G		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	594	Protein kinase.		D -> G (in NHL).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.D594G(78)|p.D594N(14)|p.D594V(6)|p.D594K(3)|p.D594H(2)|p.G593D(2)|p.D594E(2)|p.D594_T599del(1)|p.D594D(1)|p.G593S(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TAGACCAAAATCACCTATTTT	0.373		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				21	82					0	0	0.069288	0	0	C	140453154	T	C	140453154	3	2	74	1	0	0	0	0	1	0	0	0	1496	1435	50	3	535	3	BRAF	7	140453154	Missense_Mutation	SNP	T	TCGA-DU-6402-01A-11D-1705-08	33029403	140453154	18685509	28	3185											
DAPK1	1612	broad.mit.edu	37	chr9	90301560	90301560	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgggtcttaccaaagggatGctggaggtgtttgtggcccc	6	10	15	10	1	1	0	0	0	1	0	1	2	1	2	4	5	2	2	4	5	2	2			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr9:90301560G>A	uc004apc.3	+	20	2457	c.2319G>A	c.(2317-2319)atG>atA	p.M773I	DAPK1_uc004apd.3_Missense_Mutation_p.M773I|DAPK1_uc011ltg.2_Missense_Mutation_p.M773I|DAPK1_uc011lth.2_Missense_Mutation_p.M510I	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	773					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCAAAGGGATGCTGGAGGTGT	0.577									Chronic Lymphocytic Leukemia, Familial Clustering of				10	10					0	0	0.058154	0	0	A	90301560	G	A	90301560	3	1	74	1	0	0	0	0	1	0	0	0	4235	1319	46	3	2397	3	DAPK1	9	90301560	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08		90301560	50911871	29	3186											
PTEN	5728	broad.mit.edu	37	chr10	89692835	89692835	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatcaaacccttttgtgaaGatcttgaccaatggctaagt	12	14	7	8	0	2	3	1	2	1	1	2	3	2	3	2	1	1	1	2	1	5	5	rs57374291		TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr10:89692835G>T	uc001kfb.3	+	4	1351	c.319G>T	c.(319-321)Gat>Tat	p.D107Y	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	107	Phosphatase tensin-type.		D -> Y (in BZS and glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4).		T cell receptor signaling pathway|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 G1/S transition of mitotic cell cycle|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 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	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion 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.0?(37)|p.D107Y(6)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.D107N(2)|p.D107A(1)|p.F56fs*2(1)|p.P103fs*3(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)		CTTTTGTGAAGATCTTGACCA	0.368		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)			22	41					1.36565e-18	1.54123e-18	0.076483	1	0	T	89692835	G	T	89692835	3	4	74	1	0	0	0	0	1	0	0	0	12738	942	33	5	337	5	PTEN	10	89692835	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08		89692835	45841912	30	3187											
COPB1	1315	broad.mit.edu	37	chr11	14507918	14507918	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaatacacagtaccttgaTtgcagttggtgcactagaga	14	10	10	7	0	0	3	0	1	0	2	0	4	0	3	1	1	4	4	1	1	4	6			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr11:14507918T>C	uc001mlh.2	-	6	1078	c.832A>G	c.(832-834)Atc>Gtc	p.I278V	COPB1_uc001mli.2_Missense_Mutation_p.I278V|COPB1_uc001mlg.2_Missense_Mutation_p.I278V	NM_001144061	NP_057535	P53618	COPB_HUMAN	Homo sapiens coatomer protein complex, subunit beta 1 (COPB1), transcript variant 2, mRNA.	278					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|ER-Golgi intermediate compartment|cytosol|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						AGTACCTTGATTGCAGTTGGT	0.383													5	158					0	0	0.217242	0	0	C	14507918	T	C	14507918	3	2	74	1	0	0	0	0	1	0	0	0	3728	1493	52	3	2093	3	COPB1	11	14507918	Missense_Mutation	SNP	T	TCGA-DU-6402-01A-11D-1705-08		14507918	120498598	31	3188											
MS4A6E	245802	broad.mit.edu	37	chr11	60107365	60107365	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtctctgatgctggtttcTactgtgttggagttctgcct	3	18	11	9	0	3	1	0	1	3	0	4	2	3	2	1	2	3	4	1	2	1	4			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr11:60107365T>A	uc001npd.3	+	2	395	c.381T>A	c.(379-381)tcT>tcA	p.S127S		NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 6E (MS4A6E), mRNA.	127						integral to membrane	receptor activity			endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						TGCTGGTTTCTACTGTGTTGG	0.493													68	175					0	0	0.139131	0	0	A	60107365	T	A	60107365	2	1	74	1	0	0	0	0	0	0	0	1	9865	1509	53	5		5	MS4A6E	11	60107365	Silent	SNP	T	TCGA-DU-6402-01A-11D-1705-08	45599447	60107365	74899151	32	3189											
EXPH5	23086	broad.mit.edu	37	chr11	108381685	108381685	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtctcctcaccaagctgtaGtttatgcaatgctggagtaa	11	12	9	9	0	2	0	1	0	1	0	3	1	2	1	2	1	3	6	2	1	5	4			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr11:108381685G>T	uc001pkk.3	-	5	4660	c.4549C>A	c.(4549-4551)Cta>Ata	p.L1517I	EXPH5_uc010rvz.2_Missense_Mutation_p.L1361I|EXPH5_uc010rvy.2_Missense_Mutation_p.L1329I	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1517					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CCAAGCTGTAGTTTATGCAAT	0.433													8	27					1.26484e-09	1.38782e-09	0.038147	1	0	T	108381685	G	T	108381685	3	4	74	1	0	0	0	0	1	0	0	0	5322	1020	36	5	1424	5	EXPH5	11	108381685	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08	48274320	108381685	26624831	33	3190											
EXPH5	23086	broad.mit.edu	37	chr11	108382533	108382533	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcaccagaaacagaaaacGtactagtcgtcttaacttta	16	10	5	10	2	2	2	1	0	1	2	3	2	2	2	1	0	4	1	1	0	7	5			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr11:108382533G>C	uc001pkk.3	-	5	3812	c.3701C>G	c.(3700-3702)aCg>aGg	p.T1234R	EXPH5_uc010rvz.2_Missense_Mutation_p.T1078R|EXPH5_uc010rvy.2_Missense_Mutation_p.T1046R	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1234					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AACAGAAAACGTACTAGTCGT	0.373													24	86					0	0	0.083992	0	0	C	108382533	G	C	108382533	3	2	74	1	0	0	0	0	1	0	0	0	5322	1145	40	5	2272	5	EXPH5	11	108382533	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08	848	108382533	26623983	34	3191											
CLEC12A	160364	broad.mit.edu	37	chr12	10124176	10124176	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttttacactttgtcaagAtttctttacatattcatcaa	11	20	3	7	0	4	1	3	0	1	1	4	1	4	1	0	0	2	1	0	0	5	9			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr12:10124176A>G	uc001qwq.3	+	2	42	c.11_splice	c.e2-1	p.D4_splice	CLEC12A_uc001qwr.4_5'UTR|CLEC12A_uc001qws.4_5'UTR|CLEC12A_uc001qwt.3_Splice_Site	NM_001207010	NP_001193939	Q5QGZ9	CL12A_HUMAN	Homo sapiens C-type lectin domain family 12, member A (CLEC12A), transcript variant 3, mRNA.	0						integral to membrane|plasma membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						CTTTGTCAAGATTTCTTTACA	0.318													18	31					0	0	0.204396	0	0	G	10124176	A	G	10124176	5	3	74	1	0	0	0	0	0	0	1	0	3497	348	12	3		3	CLEC12A	12	10124176	Splice_Site	SNP	A	TCGA-DU-6402-01A-11D-1705-08		10124176	123727719	35	3192											
CPNE8	144402	broad.mit.edu	37	chr12	39087538	39087538	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaaacattttatcactgTcataatcttgaacaatttct	13	16	4	8	0	4	1	2	1	2	0	4	2	4	2	0	1	2	0	0	1	5	5			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr12:39087538T>C	uc001rls.1	-	14	1148	c.1064A>G	c.(1063-1065)gAc>gGc	p.D355G	CPNE8_uc001rlr.1_Missense_Mutation_p.D14G	NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN	Homo sapiens copine VIII (CPNE8), mRNA.	355	VWFA.									NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				TTTATCACTGTCATAATCTTG	0.418													3	112					0	0	0.115264	0	0	C	39087538	T	C	39087538	3	2	74	1	0	0	0	0	1	0	0	0	3818	1667	58	3	654	3	CPNE8	12	39087538	Missense_Mutation	SNP	T	TCGA-DU-6402-01A-11D-1705-08	28963362	39087538	94764357	36	3193											
ORMDL2	29095	broad.mit.edu	37	chr12	56213247	56213247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctccagtttacctcttcccGcaagttcctcagcatctctc	6	13	5	17	1	3	0	1	0	2	0	8	0	6	0	4	0	2	5	4	0	2	4			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr12:56213247G>A	uc001shw.1	+	2	388	c.296G>A	c.(295-297)cGc>cAc	p.R99H	DNAJC14_uc009zoa.2_5'Flank|DNAJC14_uc001shs.3_5'Flank|DNAJC14_uc001sht.3_5'Flank|DNAJC14_uc001shu.2_Intron|DNAJC14_uc001shv.4_5'Flank	NM_014182	NP_054901	Q53FV1	ORML2_HUMAN	Homo sapiens ORM1-like 2 (S. cerevisiae) (ORMDL2), mRNA.	99					ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane		p.S98S(1)		kidney(1)|lung(3)	4						ACCTCTTCCCGCAAGTTCCTC	0.512													5	136					0	0	0.02938	0	0	A	56213247	G	A	56213247	3	1	74	1	0	0	0	0	1	0	0	0	11270	1087	38	1	302	1	ORMDL2	12	56213247	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08	17125709	56213247	77638648	37	3194											
FZD10	11211	broad.mit.edu	37	chr12	130648631	130648631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcgggggacgagctcaccGgggtctgctacgtgggcagc	5	6	19	11	4	2	0	1	0	1	0	2	2	2	1	1	6	4	3	1	6	1	1			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr12:130648631G>A	uc001uii.3	+	0	1628	c.1144G>A	c.(1144-1146)Ggg>Agg	p.G382R	FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	Homo sapiens frizzled family receptor 10 (FZD10), mRNA.	382					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CGAGCTCACCGGGGTCTGCTA	0.647													18	37					0	0	0.189662	0	0	A	130648631	G	A	130648631	3	1	74	1	0	0	0	0	1	0	0	0	6129	1116	39	2	1146	2	FZD10	12	130648631	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08	74435384	130648631	3203264	38	3195											
RPL10L	140801	broad.mit.edu	37	chr14	47120403	47120403	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaccatgtcttcaaattcGtcagcattaaacttcgtgaa	12	12	6	11	2	3	1	2	1	1	0	5	1	3	1	2	0	2	1	2	0	4	4			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr14:47120403G>A	uc001wwg.3	-	0	626	c.537C>T	c.(535-537)gaC>gaT	p.D179D		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	Homo sapiens ribosomal protein L10-like (RPL10L), mRNA.	179					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CTTCAAATTCGTCAGCATTAA	0.517													25	73					0	0	0.108266	0	0	A	47120403	G	A	47120403	2	1	74	1	0	0	0	0	0	0	0	1	13556	1136	40	1		1	RPL10L	14	47120403	Silent	SNP	G	TCGA-DU-6402-01A-11D-1705-08		47120403	60229137	39	3196											
HCN4	10021	broad.mit.edu	37	chr15	73615765	73615765	+	Missense_Mutation	SNP	G	G	A																															ctgatggtgtgggagccgagGgggagccacaggccccgggg																										TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr15:73615765G>A	uc002avp.3	-	7	3663	c.2669C>T	c.(2668-2670)cCc>cTc	p.P890L		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	890					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GGGAGCCGAGGGGGAGCCACA	0.672													5	7					0	0	0.184627	0	0	A	73615765	G	A	73615765	3	1	74	1	0	0	0	0	1	0	0	0	6999	1232	43	3	946	3	HCN4	15	73615765	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08		73615765	28915627	40	3197	14	2									
HCN4	10021	broad.mit.edu	37	chr15	73615766	73615766	+	Missense_Mutation	SNP	G	G	A																															tgatggtgtgggagccgaggGggagccacaggccccggggg																										TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr15:73615766G>A	uc002avp.3	-	7	3662	c.2668C>T	c.(2668-2670)Ccc>Tcc	p.P890S		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	890					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GGAGCCGAGGGGGAGCCACAG	0.677													6	7					0	0	0.217242	0	0	A	73615766	G	A	73615766	3	1	74	1	0	0	0	0	1	0	0	0	6999	1232	43	3	947	3	HCN4	15	73615766	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08	1	73615766	28915626	41	3198	14	2									
C15orf42	90381	broad.mit.edu	37	chr15	90167424	90167424	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctatcaaaactccaaaaagaCcagggaattcaactgtgact	17	8	6	10	0	2	2	2	1	0	1	3	3	3	3	2	1	2	0	2	1	7	2			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr15:90167424C>A	uc002boe.3	+	19	3883	c.3883C>A	c.(3883-3885)Cca>Aca	p.P1295T	C15orf42_uc021sug.1_Missense_Mutation_p.P1294T	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	1295	Pro-rich.				DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TCCAAAAAGACCAGGGAATTC	0.453													42	86					9.39024e-22	1.07511e-21	0.11126	1	0	A	90167424	C	A	90167424	3	1	74	1	0	0	0	0	1	0	0	0	1796	507	18	5	3961	5	C15orf42	15	90167424	Missense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08	16551658	90167424	12363968	42	3199											
ACSM2A	123876	broad.mit.edu	37	chr16	20476848	20476848	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctttcctcaggctggcaagCgactcccaagcccagccctg	7	8	9	17	1	2	0	1	0	1	0	4	1	4	0	4	2	3	2	4	2	2	1	rs146541514		TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr16:20476848C>T	uc010bwe.3	+	3	426	c.187C>T	c.(187-189)Cga>Tga	p.R63*	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_5'UTR|ACSM2A_uc002dhf.4_Nonsense_Mutation_p.R63*|ACSM2A_uc002dhg.4_Nonsense_Mutation_p.R63*|ACSM2A_uc010vay.2_5'UTR	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	63					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GGCTGGCAAGCGACTCCCAAG	0.517													6	23					0	0	0.02938	0	0	T	20476848	C	T	20476848	4	4	74	1	0	0	0	0	0	1	0	0	183	760	27	1	193	1	ACSM2A	16	20476848	Nonsense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08		20476848	69877905	43	3200											
MYO15A	51168	broad.mit.edu	37	chr17	18053797	18053797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagggggaggccagcccGgtggaggcagcagtagtggt	9	5	20	7	1	0	1	0	1	0	0	0	3	0	3	2	7	2	3	2	7	2	1			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr17:18053797G>A	uc021trm.1	+	34	7486	c.7267G>A	c.(7267-7269)Ggt>Agt	p.G2423S	MYO15A_uc021trl.1_Missense_Mutation_p.G2421S	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2423	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGGCCAGCCCGGTGGAGGCAG	0.617													10	37					0	0	0.080935	0	0	A	18053797	G	A	18053797	3	1	74	1	0	0	0	0	1	0	0	0	10063	1116	39	2	7401	2	MYO15A	17	18053797	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08		18053797	63141413	44	3201											
NF1	4763	broad.mit.edu	37	chr17	29548901	29548901	+	Frame_Shift_Del	DEL	G	G	-																															ttcatcagttagatagcattGatttgtggaatcctgatgct																										TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr17:29548901delG	uc002hgg.3	+	14	2058	c.1675delG	c.(1675-1677)gatfs	p.D559fs	NF1_uc002hgf.2_Frame_Shift_Del_p.D559fs|NF1_uc002hgh.3_Frame_Shift_Del_p.D559fs|NF1_uc010csn.2_Frame_Shift_Del_p.D419fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	559					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGATAGCATTGATTTGTGGAA	0.289			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			23	45	---	---	---	---						-	29548901	G	-	29548901	7	5	74	1	0	1	0	1	0	0	0	0	10356	1290	45	0	1733	0	NF1	17	29548901	Frame_Shift_Del	DEL	G	TCGA-DU-6402-01A-11D-1705-08	11495104	29548901	51646309	45	3202											
NF1	4763	broad.mit.edu	37	chr17	29663747	29663747	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgggatgatattgctatttTagcacgctacatgctgatgc	9	14	11	7	1	0	2	0	2	0	0	0	3	0	3	0	1	5	4	0	1	4	6			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr17:29663747T>G	uc002hgg.3	+	41	6625	c.6242T>G	c.(6241-6243)tTa>tGa	p.L2081*	NF1_uc002hgh.3_Nonsense_Mutation_p.L2060*|NF1_uc010cso.3_Nonsense_Mutation_p.L269*|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2081					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATTGCTATTTTAGCACGCTAC	0.408			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			23	60					0	0	0.083992	0	0	G	29663747	T	G	29663747	4	3	74	1	0	0	0	0	0	1	0	0	10356	1764	61	5	6469	5	NF1	17	29663747	Nonsense_Mutation	SNP	T	TCGA-DU-6402-01A-11D-1705-08	114846	29663747	51531463	46	3203											
CDK12	51755	broad.mit.edu	37	chr17	37687042	37687042	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagagcctcctggccacCtgccacatgagcaccaggcc	10	4	10	17	0	0	2	0	1	0	1	1	2	1	2	7	2	4	2	7	2	1	0			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr17:37687042C>A	uc010cvv.3	+	13	4532	c.3946C>A	c.(3946-3948)Ctg>Atg	p.L1316M	CDK12_uc002hrw.4_Missense_Mutation_p.L1307M	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	1316					RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TCCTGGCCACCTGCCACATGA	0.582			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			4	102					0.00909568	0.00958078	0.150653	1	0	A	37687042	C	A	37687042	3	1	74	1	0	0	0	0	1	0	0	0	3128	680	24	5	4000	5	CDK12	17	37687042	Missense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08	8023295	37687042	43508168	47	3204											
SDK2	54549	broad.mit.edu	37	chr17	71410870	71410870	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaattggtggcttccgcGtgcacattgcccggagggac	6	9	16	10	3	0	0	0	0	0	0	1	3	1	3	2	5	2	2	2	5	1	3			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr17:71410870G>A	uc010dfm.3	-	17	2397	c.2397C>T	c.(2395-2397)caC>caT	p.H799H	SDK2_uc010dfn.2_Silent_p.H478H	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	799	Fibronectin type-III 3.				cell adhesion	integral to membrane		p.H799H(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGGCTTCCGCGTGCACATTGC	0.597													14	25					0	0	0.160694	0	0	A	71410870	G	A	71410870	2	1	74	1	0	0	0	0	0	0	0	1	13969	1136	40	1		1	SDK2	17	71410870	Silent	SNP	G	TCGA-DU-6402-01A-11D-1705-08	33723828	71410870	9784340	48	3205											
ANKRD30B	374860	broad.mit.edu	37	chr18	14763803	14763803	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgcttggtggagggaacGtctgccaaaattcaatgtct	10	10	12	9	2	3	0	1	0	2	0	3	2	3	2	1	3	2	2	1	3	4	2			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr18:14763803G>A	uc010dlo.2	+	6	1119	c.939G>A	c.(937-939)acG>acA	p.T313T	ANKRD30B_uc010xak.2_Non-coding_Transcript|ANKRD30B_uc021uhy.1_Silent_p.T313T	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	313								p.G312V(2)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TGGAGGGAACGTCTGCCAAAA	0.478													8	12					0	0	0.038147	0	0	A	14763803	G	A	14763803	2	1	74	1	0	0	0	0	0	0	0	1	659	1132	40	1		1	ANKRD30B	18	14763803	Silent	SNP	G	TCGA-DU-6402-01A-11D-1705-08		14763803	63313445	49	3206											
NEDD4L	23327	broad.mit.edu	37	chr18	56008358	56008358	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggcgcacatactatgtcaAtcataacaatcgaaccacaa	16	7	7	11	2	2	0	2	0	0	0	3	1	2	0	1	2	3	1	1	2	7	3			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr18:56008358A>G	uc002lgy.3	+	13	1497	c.1214A>G	c.(1213-1215)aAt>aGt	p.N405S	NEDD4L_uc002lgz.3_Intron|NEDD4L_uc002lgx.3_Missense_Mutation_p.N385S|NEDD4L_uc010xee.1_Missense_Mutation_p.N284S|NEDD4L_uc002lhc.2_Missense_Mutation_p.N397S|NEDD4L_uc002lhd.2_Missense_Mutation_p.N284S|NEDD4L_uc002lhb.2_Missense_Mutation_p.N264S|NEDD4L_uc002lhe.2_Missense_Mutation_p.N377S|NEDD4L_uc002lhf.3_Missense_Mutation_p.N264S|NEDD4L_uc002lhg.3_Missense_Mutation_p.N284S|NEDD4L_uc002lhh.2_Intron|NEDD4L_uc010dpm.1_Intron	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.	405	WW 2.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						TACTATGTCAATCATAACAAT	0.478													4	7					0	0	0.150653	0	0	G	56008358	A	G	56008358	3	3	74	1	0	0	0	0	1	0	0	0	10311	101	4	3	1296	3	NEDD4L	18	56008358	Missense_Mutation	SNP	A	TCGA-DU-6402-01A-11D-1705-08	41244555	56008358	22068890	50	3207											
CD70	970	broad.mit.edu	37	chr19	6590911	6590911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcgctggatgcacaccaCgaggcagatcaccaagcccg	12	3	12	14	3	1	1	1	0	0	1	1	4	1	2	3	2	3	3	3	2	2	0	rs148772362		TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr19:6590911C>T	uc010xjf.1	-	0	253	c.103G>A	c.(103-105)Gtg>Atg	p.V35M	CD70_uc002mfi.3_Missense_Mutation_p.V35M	NM_001252	NP_001243	P32970	CD70_HUMAN	Homo sapiens CD70 molecule (CD70), mRNA.	35					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to membrane of membrane fraction|integral to plasma membrane	cytokine activity|protease binding|tumor necrosis factor receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1)	11						ATGCACACCACGAGGCAGATC	0.627													29	57					0	0	0.144211	0	0	T	6590911	C	T	6590911	3	4	74	1	0	0	0	0	1	0	0	0	3033	536	19	1	490	1	CD70	19	6590911	Missense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08		6590911	52538072	51	3208											
CPAMD8	27151	broad.mit.edu	37	chr19	17013546	17013546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagctgggggccagtctcctCgggaaccctcagctgcggag	6	6	15	14	2	2	0	1	0	1	0	4	2	2	2	3	4	4	2	3	4	1	0			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr19:17013546C>T	uc002nfb.3	-	34	4771	c.4739G>A	c.(4738-4740)cGa>cAa	p.R1580Q	CPAMD8_uc002nfd.1_Missense_Mutation_p.R45Q	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1533						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCAGTCTCCTCGGGAACCCTC	0.657													6	53					0	0	0.217242	0	0	T	17013546	C	T	17013546	3	4	74	1	0	0	0	0	1	0	0	0	3795	884	31	2	1091	2	CPAMD8	19	17013546	Missense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08	10422635	17013546	42115437	52	3209											
UBE2M	9040	broad.mit.edu	37	chr19	59068093	59068093	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgttgccctcgaggtcaatgTtggggtgatagaccattgtc	7	12	13	9	2	1	2	1	1	0	1	3	3	1	2	2	3	1	2	2	3	2	4			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr19:59068093T>C	uc002qtl.4	-	3	903	c.308A>G	c.(307-309)aAc>aGc	p.N103S	CHMP2A_uc002qti.3_5'Flank|CHMP2A_uc002qtj.3_5'Flank|CHMP2A_uc002qtk.3_5'Flank|LOC100131691_uc002qtm.3_5'Flank	NM_003969	NP_003960	P61081	UBC12_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2M (UBE2M), mRNA.	103					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GAGGTCAATGTTGGGGTGATA	0.582													16	30					0	0	0.160694	0	0	C	59068093	T	C	59068093	3	2	74	1	0	0	0	0	1	0	0	0	16862	1725	60	3	255	3	UBE2M	19	59068093	Missense_Mutation	SNP	T	TCGA-DU-6402-01A-11D-1705-08	42054547	59068093	60890	53	3210											
MC3R	4159	broad.mit.edu	37	chr20	54824776	54824776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcatcatgtgcaactccGtcatcgacccactcatctac	9	11	4	17	2	5	0	4	0	1	0	8	1	7	0	3	0	3	1	3	0	2	1			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr20:54824776G>A	uc002xxb.2	+	0	989	c.877G>A	c.(877-879)Gtc>Atc	p.V293I		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	330					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			GTGCAACTCCGTCATCGACCC	0.552													6	129					0	0	0.02938	0	0	A	54824776	G	A	54824776	3	1	74	1	0	0	0	0	1	0	0	0	9365	1145	40	1	879	1	MC3R	20	54824776	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08		54824776	8200744	54	3211											
PHACTR3	116154	broad.mit.edu	37	chr20	58349322	58349322	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaggaagagaaagtaaaggGtctccaaagaagcggctgga	17	4	14	6	1	1	2	0	0	1	2	2	5	1	4	1	4	1	2	1	4	7	1			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr20:58349322G>A	uc002yau.3	+	6	1418	c.951G>A	c.(949-951)ggG>ggA	p.G317G	PHACTR3_uc002yat.3_Silent_p.G314G|PHACTR3_uc010zzw.2_Silent_p.G276G|PHACTR3_uc002yav.3_Silent_p.G276G|PHACTR3_uc002yaw.3_Silent_p.G276G|PHACTR3_uc002yax.3_Silent_p.G206G	NM_080672	NP_899067	Q96KR7	PHAR3_HUMAN	Homo sapiens phosphatase and actin regulator 3 (PHACTR3), transcript variant 1, mRNA.	317						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AAAGTAAAGGGTCTCCAAAGA	0.527													14	34					0	0	0.105934	0	0	A	58349322	G	A	58349322	2	1	74	1	0	0	0	0	0	0	0	1	11811	1248	44	3		3	PHACTR3	20	58349322	Silent	SNP	G	TCGA-DU-6402-01A-11D-1705-08	3524546	58349322	4676198	55	3212											
LRRC3	81543	broad.mit.edu	37	chr21	45877263	45877263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgaagtctctgcccagcGcccccgcctccaaggacccc	7	5	8	21	2	1	1	0	1	1	0	3	2	2	2	8	1	2	0	8	1	2	0			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr21:45877263G>A	uc021wjs.1	+	0	736	c.736G>A	c.(736-738)Gcc>Acc	p.A246T	LRRC3_uc002zfa.3_Missense_Mutation_p.A246T	NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	Homo sapiens leucine rich repeat containing 3 (LRRC3), mRNA.	246						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		TCTGCCCAGCGCCCCCGCCTC	0.652													12	28					0	0	0.11911	0	0	A	45877263	G	A	45877263	3	1	74	1	0	0	0	0	1	0	0	0	8984	1087	38	1	738	1	LRRC3	21	45877263	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08		45877263	2252632	56	3213											
SFI1	9814	broad.mit.edu	37	chr22	32013006	32013006	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagcctggaccttgaggctGaacttgaggagatccagcag	10	7	14	10	0	0	4	0	3	0	1	1	6	1	5	3	3	3	3	3	3	1	2	rs143349198	by1000genomes	TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr22:32013006G>C	uc003ale.3	+	30	3847	c.3454G>C	c.(3454-3456)Gaa>Caa	p.E1152Q	SFI1_uc003alf.3_Missense_Mutation_p.E1121Q|SFI1_uc003alg.3_Missense_Mutation_p.E1070Q|SFI1_uc011alp.2_Missense_Mutation_p.E1058Q|SFI1_uc011alq.2_Missense_Mutation_p.E1097Q|SFI1_uc003alh.3_Non-coding_Transcript|SFI1_uc010gwi.3_Non-coding_Transcript|SFI1_uc003ali.3_Missense_Mutation_p.E244Q|SFI1_uc003alj.3_Missense_Mutation_p.E286Q	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA.	1152					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CCTTGAGGCTGAACTTGAGGA	0.567													16	28					0	0	0.175082	0	0	C	32013006	G	C	32013006	3	2	74	1	0	0	0	0	1	0	0	0	14156	1291	45	5	3572	5	SFI1	22	32013006	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08		32013006	19291560	57	3214											
DEPDC5	9681	broad.mit.edu	37	chr22	32302244	32302244	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaagttctcagggcagcagCggcggcggcggaactccacc	8	4	15	14	4	1	0	1	0	1	0	3	1	2	1	2	5	3	4	2	5	2	1			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr22:32302244C>T	uc011alu.2	+	42	4775	c.4573C>T	c.(4573-4575)Cgg>Tgg	p.R1525W	DEPDC5_uc011als.2_Missense_Mutation_p.R1425W|DEPDC5_uc003als.3_Missense_Mutation_p.R1494W|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Missense_Mutation_p.R1516W|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Missense_Mutation_p.R943W|DEPDC5_uc003alw.3_Missense_Mutation_p.R792W|DEPDC5_uc011alx.2_Missense_Mutation_p.R342W|DEPDC5_uc010gwk.3_Missense_Mutation_p.A529V|DEPDC5_uc011aly.2_Missense_Mutation_p.R342W	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	1494					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGGGCAGCAGCGGCGGCGGCG	0.607													9	26					0	0	0.11911	0	0	T	32302244	C	T	32302244	3	4	74	1	0	0	0	0	1	0	0	0	4442	759	27	1	4730	1	DEPDC5	22	32302244	Missense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08	289238	32302244	19002322	58	3215											
MUM1L1	139221	broad.mit.edu	37	chrX	105449891	105449891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaactcagcatgcttgttaGcatcttcagagagtgatgat	13	12	9	7	0	3	3	2	2	1	1	3	4	3	3	0	0	4	4	0	0	3	3			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chrX:105449891G>A	uc022cca.1	+	0	466	c.466G>A	c.(466-468)Gca>Aca	p.A156T	MUM1L1_uc004emg.2_Missense_Mutation_p.A156T|MUM1L1_uc004emf.2_Missense_Mutation_p.A156T	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	156										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATGCTTGTTAGCATCTTCAGA	0.413													13	6					0	0	0.105934	0	0	A	105449891	G	A	105449891	3	1	74	1	0	0	0	0	1	0	0	0	9986	971	34	3	468	3	MUM1L1	23	105449891	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08		105449891	49820669	59	3216											
WDR63	126820	broad.mit.edu	37	chr1	85546977	85546977	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagaaatatttaactgccGaatagatgaagatgtcacag	17	9	8	7	1	1	4	1	1	0	3	1	5	1	4	2	0	2	0	2	0	7	4			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:85546977G>T	uc001dkt.3	+	3	355	c.164G>T	c.(163-165)cGa>cTa	p.R55L	WDR63_uc009wcl.3_Missense_Mutation_p.R55L	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	55								p.C54Y(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TTTAACTGCCGAATAGATGAA	0.368													42	66					4.32679e-17	4.89611e-17	1	1	0	T	85546977	G	T	85546977	3	4	75	1	0	0	0	0	1	0	0	0	17311	1058	37	5	174	5	WDR63	1	85546977	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08		85546977	163703644	1	3217											
SPAG17	200162	broad.mit.edu	37	chr1	118558706	118558706	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggttgtaaaccaggtgcctAtgtgaacctccacaggagtt	10	11	11	9	0	0	1	0	1	0	0	1	2	1	2	4	3	3	3	4	3	4	4			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:118558706A>C	uc001ehk.2	-	28	4237	c.4169T>G	c.(4168-4170)aTa>aGa	p.I1390R		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1390						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CCAGGTGCCTATGTGAACCTC	0.468													26	53					0	0	1	0	0	C	118558706	A	C	118558706	3	2	75	1	0	0	0	0	1	0	0	0	14979	449	16	5	2582	5	SPAG17	1	118558706	Missense_Mutation	SNP	A	TCGA-DU-6403-01A-11D-1705-08	33011729	118558706	130691915	2	3218											
HRNR	388697	broad.mit.edu	37	chr1	152192866	152192866	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccagagctgtgttggccGcggcctgaagagtgacggga	8	7	17	9	3	0	4	0	2	0	2	1	6	1	5	3	3	1	2	3	3	1	1			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:152192866G>A	uc001ezt.1	-	2	1315	c.1239C>T	c.(1237-1239)cgC>cgT	p.R413R		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	413					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGTTGGCCGCGGCCTGAAG	0.632													6	20					0	0	1	0	0	A	152192866	G	A	152192866	2	1	75	1	0	0	0	0	0	0	0	1	7359	1074	38	1		1	HRNR	1	152192866	Silent	SNP	G	TCGA-DU-6403-01A-11D-1705-08	33634160	152192866	97057755	3	3219											
FLG	2312	broad.mit.edu	37	chr1	152279767	152279767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggaagcttcatggtgacgcGaccctgagtgcctggagccg	8	7	15	11	3	1	2	1	2	0	0	1	5	1	4	3	3	3	1	3	3	1	1			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:152279767G>A	uc001ezu.1	-	2	7631	c.7595C>T	c.(7594-7596)tCg>tTg	p.S2532L		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2532	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S2532S(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGTGACGCGACCCTGAGTG	0.597									Ichthyosis				103	219					0	0	1	0	0	A	152279767	G	A	152279767	3	1	75	1	0	0	0	0	1	0	0	0	5922	1059	37	2	4594	2	FLG	1	152279767	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	86901	152279767	96970854	4	3220											
OR6K3	391114	broad.mit.edu	37	chr1	158687191	158687191	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgaggtggcctgcacaggTagaaaaagccttttgcctcc	10	9	11	11	0	0	2	0	1	0	1	1	2	1	2	4	3	3	2	4	3	3	3			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:158687191T>G	uc021pbn.1	-	0	715	c.715A>C	c.(715-717)Acc>Ccc	p.T239P		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 3 (OR6K3), mRNA.	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T238T(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					CCTGCACAGGTAGAAAAAGCC	0.453													26	33					0	0	1	0	0	G	158687191	T	G	158687191	3	3	75	1	0	0	0	0	1	0	0	0	11203	1638	57	5	234	5	OR6K3	1	158687191	Missense_Mutation	SNP	T	TCGA-DU-6403-01A-11D-1705-08	6407424	158687191	90563430	5	3221											
ADAMTS4	9507	broad.mit.edu	37	chr1	161168155	161168156	+	Frame_Shift_Ins	INS	-	-	AG																															tagtagcagcgtctccccaaINSaggcctgcaagcggcacaac																										TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:161168155_161168156insAG	uc001fyt.4	-	0	690_691	c.262_263insCT	c.(262-264)tttfs	p.F88fs	ADAMTS4_uc001fyu.2_Frame_Shift_Ins_p.F88fs|NDUFS2_uc001fyv.3_5'Flank	NM_005099	NP_005090	O75173	ATS4_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 4 (ADAMTS4), mRNA.	88					proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CGTCTCCCCAAAGGCCTGCAAG	0.668													9	16	---	---	---	---						AG	161168156	-	AG	161168155	7	5	75	1	0	1	1	0	0	0	0	0	268	14	1	0	2286	0	ADAMTS4	1	161168155	Frame_Shift_Ins	INS	-	TCGA-DU-6403-01A-11D-1705-08	2480964	161168155	88082466	6	3222											
ASTN1	460	broad.mit.edu	37	chr1	176863937	176863937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccttggggtctctttcccGctcctcagactcatctgatg	5	13	8	15	1	4	2	2	1	2	1	7	2	6	2	3	2	0	1	3	2	0	2			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:176863937G>A	uc001glc.3	-	16	2913	c.2701C>T	c.(2701-2703)Cgg>Tgg	p.R901W	ASTN1_uc001glb.1_Missense_Mutation_p.R901W|ASTN1_uc001gld.1_Missense_Mutation_p.R901W	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	909					cell migration|neuron cell-cell adhesion	integral to membrane		p.R901Q(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCTCTTTCCCGCTCCTCAGAC	0.532													55	95					0	0	1	0	0	A	176863937	G	A	176863937	3	1	75	1	0	0	0	0	1	0	0	0	1064	1086	38	1	1215	1	ASTN1	1	176863937	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	15695782	176863937	72386684	7	3223											
SLC35F3	148641	broad.mit.edu	37	chr1	234041399	234041399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgaaatggtcgcgctccGtggaggatctcaccagcggg	8	8	14	11	4	2	1	1	1	2	0	5	3	3	3	2	4	1	1	2	4	1	0			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:234041399G>A	uc001hvy.1	+	1	323	c.178G>A	c.(178-180)Gtg>Atg	p.V60M		NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	0					transport	integral to membrane		p.V60L(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GTCGCGCTCCGTGGAGGATCT	0.642													23	39					0	0	1	0	0	A	234041399	G	A	234041399	3	1	75	1	0	0	0	0	1	0	0	0	14590	1145	40	1	184	1	SLC35F3	1	234041399	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	57177462	234041399	15209222	8	3224											
AGBL5	60509	broad.mit.edu	37	chr2	27278054	27278054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atccccgggcccaaaccctcCgtcgcctcttcgtctttaag	6	10	7	18	4	2	0	0	0	2	0	6	0	4	0	6	1	1	0	6	1	2	3			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:27278054C>T	uc002rie.3	+	5	1058	c.841C>T	c.(841-843)Cgt>Tgt	p.R281C	AGBL5_uc002rid.3_Missense_Mutation_p.R281C|AGBL5_uc002rif.3_Non-coding_Transcript	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	Homo sapiens ATP/GTP binding protein-like 5 (AGBL5), transcript variant 1, mRNA.	281					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAAACCCTCCGTCGCCTCTT	0.557													41	71					0	0	1	0	0	T	27278054	C	T	27278054	3	4	75	1	0	0	0	0	1	0	0	0	378	652	23	2	859	2	AGBL5	2	27278054	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08		27278054	215921319	9	3225											
LBH	81606	broad.mit.edu	37	chr2	30457270	30457270	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtctgggtttcttggcaGccccgactatctgagatcgg	5	13	13	10	2	3	1	0	1	3	1	4	3	3	1	2	4	1	2	2	4	1	4			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:30457270G>T	uc002rne.2	+	2	235	c.27_splice	c.e2-1	p.C9_splice		NM_030915	NP_112177	Q53QV2	LBH_HUMAN	Homo sapiens limb bud and heart development homolog (mouse) (LBH), mRNA.	9					multicellular organismal development|transcription, DNA-dependent	cytoplasm|nucleolus				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					TTTCTTGGCAGCCCCGACTAT	0.542													21	42					2.21704e-12	2.38331e-12	1	1	0	T	30457270	G	T	30457270	5	4	75	1	0	0	0	0	0	0	1	0	8650	985	34	5	32	5	LBH	2	30457270	Splice_Site	SNP	G	TCGA-DU-6403-01A-11D-1705-08	3179216	30457270	212742103	10	3226											
PSME4	23198	broad.mit.edu	37	chr2	54123990	54123990	+	Frame_Shift_Del	DEL	T	T	-																															ttgtgggttctttttagctgTttaaggataccagcaacagc																										TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:54123990delT	uc002rxp.2	-	31	3695	c.3639delA	c.(3637-3639)aaafs	p.K1213fs	PSME4_uc010yop.1_Frame_Shift_Del_p.K1099fs|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_Frame_Shift_Del_p.K588fs|PSME4_uc010fbv.1_Frame_Shift_Del_p.K357fs	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	1213					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTTTTAGCTGTTTAAGGATAC	0.348													74	174	---	---	---	---						-	54123990	T	-	54123990	7	5	75	1	0	1	0	1	0	0	0	0	12709	1722	60	0	1952	0	PSME4	2	54123990	Frame_Shift_Del	DEL	T	TCGA-DU-6403-01A-11D-1705-08	23666720	54123990	189075383	11	3227											
PSD4	23550	broad.mit.edu	37	chr2	113950108	113950108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcctggaacttggcctcaCgcctctatcgcctggagggc	6	9	12	14	2	2	0	1	0	1	0	3	2	2	2	4	4	2	0	4	4	3	3	rs117870995	by1000genomes	TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:113950108C>T	uc002tjc.3	+	5	1963	c.1780C>T	c.(1780-1782)Cgc>Tgc	p.R594C	PSD4_uc002tjd.3_Missense_Mutation_p.R215C|PSD4_uc002tje.3_Missense_Mutation_p.R565C|PSD4_uc002tjf.3_Missense_Mutation_p.R215C	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	594	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	p.R594C(2)		cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTGGCCTCACGCCTCTATCG	0.597													23	47					0	0	1	0	0	T	113950108	C	T	113950108	3	4	75	1	0	0	0	0	1	0	0	0	12649	536	19	1	1798	1	PSD4	2	113950108	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08	59826118	113950108	129249265	12	3228											
YSK4	80122	broad.mit.edu	37	chr2	135744115	135744115	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcatctttggaagatagaAactcatttcctgaagacttt	12	16	6	7	0	3	4	2	1	1	3	4	5	4	5	1	1	1	0	1	1	4	5			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:135744115A>T	uc002tue.1	-	6	2358	c.2327T>A	c.(2326-2328)tTt>tAt	p.F776Y	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.F663Y|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.F504Y|YSK4_uc002tui.4_Missense_Mutation_p.F793Y	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	776							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		GGAAGATAGAAACTCATTTCC	0.403													4	80					0	0	1	0	0	T	135744115	A	T	135744115	3	4	75	1	0	0	0	0	1	0	0	0	17492	14	1	5	1675	5	YSK4	2	135744115	Missense_Mutation	SNP	A	TCGA-DU-6403-01A-11D-1705-08	21794007	135744115	107455258	13	3229											
PDE11A	50940	broad.mit.edu	37	chr2	178936632	178936632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accgaggcagattcactctcGattccagcagcgcactgaga	11	7	10	13	3	2	2	1	1	1	2	4	5	3	2	2	1	2	3	2	1	0	2			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:178936632G>A	uc002ulq.3	-	0	851	c.533C>T	c.(532-534)tCg>tTg	p.S178L	PDE11A_uc002ulr.3_Intron|PDE11A_uc002ult.1_Intron	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	178					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			ATTCACTCTCGATTCCAGCAG	0.537									Primary Pigmented Nodular Adrenocortical Disease, Familial				35	63					0	0	1	0	0	A	178936632	G	A	178936632	3	1	75	1	0	0	0	0	1	0	0	0	11631	1059	37	2	2348	2	PDE11A	2	178936632	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	43192517	178936632	64262741	14	3230											
COL6A3	1293	broad.mit.edu	37	chr2	238277603	238277603	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctcaggcgccgtatggcGtccagcaccggggcctggga	6	5	16	14	4	1	0	1	0	0	0	2	1	2	1	5	5	2	2	5	5	1	1	rs115551245	by1000genomes	TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:238277603G>A	uc002vwl.2	-	9	4788	c.4503C>T	c.(4501-4503)gaC>gaT	p.D1501D	COL6A3_uc002vwo.2_Silent_p.D1295D|COL6A3_uc010znj.1_Silent_p.D894D	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1501	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.D1501N(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCCGTATGGCGTCCAGCACCG	0.557													17	24					0	0	1	0	0	A	238277603	G	A	238277603	2	1	75	1	0	0	0	0	0	0	0	1	3701	1136	40	1		1	COL6A3	2	238277603	Silent	SNP	G	TCGA-DU-6403-01A-11D-1705-08	59340971	238277603	4921770	15	3231											
ROBO2	6092	broad.mit.edu	37	chr3	77614192	77614192	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggactgcggcccaatacaatCtacttattcatggtcagagc	11	10	9	11	1	3	1	2	0	1	1	3	2	3	2	1	3	4	0	1	3	5	4			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr3:77614192C>T	uc011bgk.2	+	12	2425	c.1782C>T	c.(1780-1782)atC>atT	p.I594I	ROBO2_uc021xat.1_Silent_p.I606I|ROBO2_uc003dpy.4_Silent_p.I590I|ROBO2_uc003dpz.3_Silent_p.I594I|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	590	Fibronectin type-III 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCAATACAATCTACTTATTCA	0.507													13	41					0	0	1	0	0	T	77614192	C	T	77614192	2	4	75	1	0	0	0	0	0	0	0	1	13514	903	32	3		3	ROBO2	3	77614192	Silent	SNP	C	TCGA-DU-6403-01A-11D-1705-08		77614192	120408238	16	3232											
SI	6476	broad.mit.edu	37	chr3	164730794	164730794	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcttcatcttccgttagagTtttatctattgttatgttgg	7	20	8	6	1	3	1	1	0	2	1	4	1	4	1	1	1	1	5	1	1	4	9			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr3:164730794T>C	uc003fei.3	-	33	4099	c.4036A>G	c.(4036-4038)Act>Gct	p.T1346A		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1346	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCCGTTAGAGTTTTATCTATT	0.328										HNSCC(35;0.089)			23	68					0	0	1	0	0	C	164730794	T	C	164730794	3	2	75	1	0	0	0	0	1	0	0	0	14297	1725	60	3	1507	3	SI	3	164730794	Missense_Mutation	SNP	T	TCGA-DU-6403-01A-11D-1705-08	87116602	164730794	33291636	17	3233											
SENP5	205564	broad.mit.edu	37	chr3	196654715	196654715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagagaaaaaaatagacctGaatttcttcagggttggcag	15	9	10	7	0	2	3	1	1	1	2	2	4	2	3	2	2	0	2	2	2	5	4			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr3:196654715G>A	uc003fwz.4	+	7	2320	c.2071G>A	c.(2071-2073)Gaa>Aaa	p.E691K	SENP5_uc011bty.2_Missense_Mutation_p.E645K	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 5 (SENP5), mRNA.	691	Protease.				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AAATAGACCTGAATTTCTTCA	0.413													23	22					0	0	1	0	0	A	196654715	G	A	196654715	3	1	75	1	0	0	0	0	1	0	0	0	14049	1291	45	3	2097	3	SENP5	3	196654715	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	31923921	196654715	1367715	18	3234											
TLR6	10333	broad.mit.edu	37	chr4	38830190	38830190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcaatgctttcaatgtcGttttagaataagtaaaatct	13	17	6	5	1	3	1	2	0	1	1	4	1	3	1	0	0	1	3	0	0	7	6			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr4:38830190G>A	uc010ifg.2	-	1	1026	c.905C>T	c.(904-906)aCg>aTg	p.T302M	TLR6_uc003gtm.3_Missense_Mutation_p.T302M	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	302					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of interleukin-6 biosynthetic process|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTCAATGTCGTTTTAGAATA	0.323													11	24					0	0	1	0	0	A	38830190	G	A	38830190	3	1	75	1	0	0	0	0	1	0	0	0	15952	1145	40	1	1489	1	TLR6	4	38830190	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08		38830190	152324086	19	3235											
SNCA	6622	broad.mit.edu	37	chr4	90743488	90743488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctactgctgtcacacccGtcaccactgctcctccaaca	8	8	7	18	1	2	0	2	0	0	0	4	0	4	0	4	1	4	3	4	1	2	1			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr4:90743488G>A	uc003hsq.3	-	3	474	c.215C>T	c.(214-216)aCg>aTg	p.T72M	SNCA_uc010ikt.3_Missense_Mutation_p.T58M|SNCA_uc003hso.3_Missense_Mutation_p.T72M|SNCA_uc003hsp.3_Missense_Mutation_p.T72M|SNCA_uc003hsr.3_Missense_Mutation_p.T72M|SNCA_uc021xqc.1_Missense_Mutation_p.T72M	NM_001146054	NP_001139527	P37840	SYUA_HUMAN	Homo sapiens synuclein, alpha (non A4 component of amyloid precursor) (SNCA), transcript variant 2, mRNA.	72					activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis	actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse	Hsp70 protein binding|alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)	Melatonin(DB01065)	TGTCACACCCGTCACCACTGC	0.502													15	25					0	0	1	0	0	A	90743488	G	A	90743488	3	1	75	1	0	0	0	0	1	0	0	0	14840	1145	40	1	219	1	SNCA	4	90743488	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	51913298	90743488	100410788	20	3236											
NDST3	9348	broad.mit.edu	37	chr4	119064828	119064828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaacttttcttcactgtcGtcctcaaccctgtaagtact	9	14	6	12	1	3	1	2	0	1	1	5	2	4	1	2	0	3	2	2	0	4	5			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr4:119064828G>A	uc003ibx.3	+	5	1931	c.1528G>A	c.(1528-1530)Gtc>Atc	p.V510I	NDST3_uc011cgf.1_Missense_Mutation_p.V429I	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	510	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CTTCACTGTCGTCCTCAACCC	0.428													15	32					0	0	1	0	0	A	119064828	G	A	119064828	3	1	75	1	0	0	0	0	1	0	0	0	10257	1145	40	1	1546	1	NDST3	4	119064828	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	28321340	119064828	72089448	21	3237											
PRSS12	8492	broad.mit.edu	37	chr4	119216148	119216148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agctactcaggagcgtagccCcgcagaggagcctgccatct	9	6	12	14	2	2	1	1	0	1	1	2	3	2	3	4	2	6	3	4	2	2	2			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr4:119216148C>T	uc003ica.2	-	10	2032	c.1985G>A	c.(1984-1986)gGg>gAg	p.G662E		NM_003619	NP_003610	P56730	NETR_HUMAN	Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA.	662	Peptidase S1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						GAGCGTAGCCCCGCAGAGGAG	0.532													12	17					0	0	1	0	0	T	119216148	C	T	119216148	3	4	75	1	0	0	0	0	1	0	0	0	12615	623	22	3	654	3	PRSS12	4	119216148	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08	151320	119216148	71938128	22	3238											
RAPGEF6	51735	broad.mit.edu	37	chr5	130766884	130766884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctttttgggtttggaaggCtttggaagttgtcatgggag	7	15	16	3	0	1	0	1	0	0	0	1	3	1	3	0	5	1	4	0	5	2	5			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr5:130766884C>T	uc003kvn.2	-	25	4339	c.4133G>A	c.(4132-4134)aGc>aAc	p.S1378N	RAPGEF6_uc003kvp.2_Missense_Mutation_p.S1428N|RAPGEF6_uc003kvo.2_Missense_Mutation_p.S1391N|RAPGEF6_uc010jdi.2_Missense_Mutation_p.S1386N|RAPGEF6_uc010jdj.2_Missense_Mutation_p.S1386N|RAPGEF6_uc003kvm.2_Missense_Mutation_p.S301N	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	1378	Ser-rich.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GTTTGGAAGGCTTTGGAAGTT	0.443													21	63					0	0	1	0	0	T	130766884	C	T	130766884	3	4	75	1	0	0	0	0	1	0	0	0	13048	797	28	3	684	3	RAPGEF6	5	130766884	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08		130766884	50148376	23	3239											
PCDHGC5	56097	broad.mit.edu	37	chr5	140769049	140769049	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaactcacactgcaggcccGcgaccagggctcgccagcgc	8	3	12	18	5	1	0	1	0	0	0	2	2	1	0	3	2	3	2	3	2	1	0			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr5:140769049G>A	uc003lkc.2	+	0	1598	c.1598G>A	c.(1597-1599)cGc>cAc	p.R533H	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	537	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCAGGCCCGCGACCAGGGC	0.677													20	15					0	0	1	0	0	A	140769049	G	A	140769049	3	1	75	1	0	0	0	0	1	0	0	0	11571	1087	38	1		1	PCDHGC5	5	140769049	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	10002165	140769049	40146211	24	3240											
FAM71B	153745	broad.mit.edu	37	chr5	156589604	156589604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catcttagccacgatatctaCctctctgtcatgtgatgtga	9	14	7	11	1	4	2	1	2	3	0	5	3	4	2	2	0	2	0	2	0	3	3			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr5:156589604C>T	uc003lwn.3	-	1	1772	c.1672G>A	c.(1672-1674)Gta>Ata	p.V558I		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	558						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACGATATCTACCTCTCTGTCA	0.483													61	145					0	0	1	0	0	T	156589604	C	T	156589604	3	4	75	1	0	0	0	0	1	0	0	0	5608	507	18	3	149	3	FAM71B	5	156589604	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08	15820555	156589604	24325656	25	3241											
PKHD1	5314	broad.mit.edu	37	chr6	51889804	51889804	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatagactgacgtggtgtTctgtcctctcaggcctgtgc	7	13	11	10	1	2	2	1	1	2	1	4	2	3	2	2	2	1	1	2	2	3	3			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr6:51889804T>G	uc003pah.1	-	31	5080	c.4804A>C	c.(4804-4806)Aac>Cac	p.N1602H	PKHD1_uc003pai.3_Missense_Mutation_p.N1602H	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1602	IPT/TIG 11.				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)					GACGTGGTGTTCTGTCCTCTC	0.498													28	65					0	0	1	0	0	G	51889804	T	G	51889804	3	3	75	1	0	0	0	0	1	0	0	0	11971	1783	62	5	7603	5	PKHD1	6	51889804	Missense_Mutation	SNP	T	TCGA-DU-6403-01A-11D-1705-08		51889804	119225263	26	3242											
CHN2	1124	broad.mit.edu	37	chr7	29535576	29535576	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttggatcacaggtccacacGttccgaggcccacactggtg	8	9	11	13	2	1	0	1	0	0	0	3	2	3	1	3	4	0	1	3	4	0	2			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:29535576G>A	uc003szz.3	+	7	1100	c.663G>A	c.(661-663)acG>acA	p.T221T	CHN2_uc011jzs.2_Silent_p.T296T|CHN2_uc010kva.3_Intron|CHN2_uc010kvb.3_Intron|CHN2_uc010kvc.3_Silent_p.T186T|CHN2_uc011jzt.2_Silent_p.T234T|CHN2_uc010kvd.3_Silent_p.T77T|CHN2_uc011jzu.2_Silent_p.T206T|CHN2_uc010kvh.3_Silent_p.T85T|CHN2_uc010kvi.3_Silent_p.T85T|CHN2_uc010kve.3_Silent_p.T85T|CHN2_uc003taa.3_Silent_p.T85T|CHN2_uc010kvf.3_Silent_p.T85T|CHN2_uc010kvg.3_Silent_p.T85T|CHN2_uc010kvj.3_Silent_p.T40T|CHN2_uc010kvk.3_Intron|CHN2_uc010kvl.3_Intron|CHN2_uc010kvm.3_Silent_p.T40T|CHN2_uc011jzv.2_Silent_p.T14T	NM_004067	NP_004058	P52757	CHIO_HUMAN	Homo sapiens chimerin (chimaerin) 2 (CHN2), transcript variant 2, mRNA.	221					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						AGGTCCACACGTTCCGAGGCC	0.483													28	47					0	0	1	0	0	A	29535576	G	A	29535576	2	1	75	1	0	0	0	0	0	0	0	1	3363	1132	40	1		1	CHN2	7	29535576	Silent	SNP	G	TCGA-DU-6403-01A-11D-1705-08		29535576	129603087	27	3243											
HECW1	23072	broad.mit.edu	37	chr7	43581598	43581598	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgaagaggtttttggacagGtttgtgtgacatggggtttg	8	15	16	2	0	0	3	0	2	0	1	0	4	0	4	0	5	0	3	0	5	1	4			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:43581598G>C	uc003tid.1	+	26	4853	c.4248_splice	c.e26+1	p.Q1416_splice	HECW1_uc011kbi.1_Splice_Site_p.Q1382_splice	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1416	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			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						TTTTGGACAGGTTTGTGTGAC	0.368													26	126					0	0	1	0	0	C	43581598	G	C	43581598	5	2	75	1	0	0	0	0	0	0	1	0	7042	1275	44	5	4343	5	HECW1	7	43581598	Splice_Site	SNP	G	TCGA-DU-6403-01A-11D-1705-08	14046022	43581598	115557065	28	3244											
WBSCR17	64409	broad.mit.edu	37	chr7	70597851	70597851	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatcgcggtagccggcttCgtgctcttcctggccaagtg	4	12	13	12	4	1	1	0	1	1	0	4	1	2	1	3	3	2	3	3	3	2	4			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:70597851C>T	uc003tvy.3	+	0	63	c.63C>T	c.(61-63)ttC>ttT	p.F21F		NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	21						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TAGCCGGCTTCGTGCTCTTCC	0.672													3	19					0	0	1	0	0	T	70597851	C	T	70597851	2	4	75	1	0	0	0	0	0	0	0	1	17261	883	31	2		2	WBSCR17	7	70597851	Silent	SNP	C	TCGA-DU-6403-01A-11D-1705-08	27016253	70597851	88540812	29	3245											
HGF	3082	broad.mit.edu	37	chr7	81339500	81339500	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccatcctatgtttgttcGtgttggaatcccatttacaa	9	16	6	10	1	0	0	0	0	0	0	4	1	3	1	3	1	1	3	3	1	4	6			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:81339500G>A	uc003uhl.3	-	12	1669	c.1504C>T	c.(1504-1506)Cga>Tga	p.R502*	HGF_uc003uhm.3_Nonsense_Mutation_p.R497*	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	502	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ATGTTTGTTCGTGTTGGAATC	0.348													15	74					0	0	1	0	0	A	81339500	G	A	81339500	4	1	75	1	0	0	0	0	0	1	0	0	7085	1153	40	1	706	1	HGF	7	81339500	Nonsense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	10741649	81339500	77799163	30	3246											
PCLO	27445	broad.mit.edu	37	chr7	82785657	82785657	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagctggacgcccagggtcCgggggtcttcctgattgctt	4	11	15	11	2	1	2	0	2	1	0	3	3	3	3	3	4	2	2	3	4	0	3			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:82785657C>T	uc003uhx.2	-	1	589	c.300G>A	c.(298-300)ccG>ccA	p.P100P	PCLO_uc003uhv.2_Silent_p.P100P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	100					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCCCAGGGTCCGGGGGTCTTC	0.418													15	36					0	0	1	0	0	T	82785657	C	T	82785657	2	4	75	1	0	0	0	0	0	0	0	1	11583	639	23	2		2	PCLO	7	82785657	Silent	SNP	C	TCGA-DU-6403-01A-11D-1705-08	1446157	82785657	76353006	31	3247											
EPHB6	2051	broad.mit.edu	37	chr7	142563850	142563850	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaaggagtgtgaaggccGccaggaacctgccagcggtg	9	5	17	10	2	0	1	0	1	0	0	0	3	0	3	4	4	4	1	4	4	3	0			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:142563850G>T	uc011kst.2	+	8	2025	c.1238G>T	c.(1237-1239)cGc>cTc	p.R413L	EPHB6_uc011ksu.2_Missense_Mutation_p.R413L|EPHB6_uc003wbs.3_Missense_Mutation_p.R121L|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_Missense_Mutation_p.R121L|EPHB6_uc003wbv.3_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	413	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TGTGAAGGCCGCCAGGAACCT	0.637													7	6					8.12818e-05	8.32171e-05	1	1	0	T	142563850	G	T	142563850	3	4	75	1	0	0	0	0	1	0	0	0	5178	1087	38	5	1256	5	EPHB6	7	142563850	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	59778193	142563850	16574813	32	3248											
OR2A5	393046	broad.mit.edu	37	chr7	143747664	143747664	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggactccagactgcacacccCcatgtacttctttctctcac	8	11	5	17	0	3	1	1	0	2	1	5	2	4	2	3	1	2	2	3	1	1	3			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:143747664C>A	uc011ktw.2	+	0	170	c.170C>A	c.(169-171)cCc>cAc	p.P57H		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CTGCACACCCCCATGTACTTC	0.502													42	73					7.63091e-17	8.52284e-17	1	1	0	A	143747664	C	A	143747664	3	1	75	1	0	0	0	0	1	0	0	0	10981	623	22	5	172	5	OR2A5	7	143747664	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08	1183814	143747664	15390999	33	3249											
NOBOX	135935	broad.mit.edu	37	chr7	144096876	144096876	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgactgctggcagggccaggGgctgcaggattgtccttgct	5	10	16	10	0	0	1	0	1	0	0	1	2	1	2	2	5	3	5	2	5	0	2			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:144096876G>A	uc022aoj.1	-	5	1128	c.1128C>T	c.(1126-1128)gcC>gcT	p.A376A		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	376					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CAGGGCCAGGGGCTGCAGGAT	0.537													3	17					0	0	1	0	0	A	144096876	G	A	144096876	2	1	75	1	0	0	0	0	0	0	0	1	10512	1219	43	3		3	NOBOX	7	144096876	Silent	SNP	G	TCGA-DU-6403-01A-11D-1705-08	349212	144096876	15041787	34	3250											
ABCF2	10061	broad.mit.edu	37	chr7	150921894	150921894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccaatgaggccataacgaCggcctgagtttaattccagt	13	9	9	10	2	0	2	0	2	0	0	1	3	1	2	4	2	2	1	4	2	4	4			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:150921894C>T	uc003wjo.1	-	2	446	c.335G>A	c.(334-336)cGt>cAt	p.R112H	ABCF2_uc003wjp.3_Missense_Mutation_p.R112H	NM_005692	NP_005683	Q9UG63	ABCF2_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 2 (ABCF2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	112	ABC transporter 1.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCATAACGACGGCCTGAGTT	0.463													13	38					0	0	1	0	0	T	150921894	C	T	150921894	3	4	75	1	0	0	0	0	1	0	0	0	66	536	19	1	1629	1	ABCF2	7	150921894	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08	6825018	150921894	8216769	35	3251											
GRHL2	79977	broad.mit.edu	37	chr8	102585973	102585973	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggccccatgacctacctcaAcaaaggacagttctatgcca	12	7	8	14	0	2	1	1	1	1	0	2	2	2	2	5	2	3	1	5	2	4	3			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr8:102585973A>G	uc010mbu.3	+	5	1142	c.812A>G	c.(811-813)aAc>aGc	p.N271S	GRHL2_uc011lhi.1_Missense_Mutation_p.N271S	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	271						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			ACCTACCTCAACAAAGGACAG	0.522													16	28					0	0	1	0	0	G	102585973	A	G	102585973	3	3	75	1	0	0	0	0	1	0	0	0	6764	43	2	3	834	3	GRHL2	8	102585973	Missense_Mutation	SNP	A	TCGA-DU-6403-01A-11D-1705-08		102585973	43778049	36	3252											
TSC1	7248	broad.mit.edu	37	chr9	135798758	135798758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttcttcaggcaccatgatGacagacggccaaaaatgtca	13	9	9	10	1	3	3	2	2	1	1	3	3	3	3	2	2	0	2	2	2	2	2			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr9:135798758G>A	uc004cca.2	-	5	719	c.485C>T	c.(484-486)tCa>tTa	p.S162L	TSC1_uc004ccb.3_Missense_Mutation_p.S162L|TSC1_uc011mcq.1_Missense_Mutation_p.S111L|TSC1_uc011mcr.2_Missense_Mutation_p.S41L|TSC1_uc011mcs.1_Missense_Mutation_p.S41L|TSC1_uc004ccc.1_Missense_Mutation_p.S162L|TSC1_uc004cce.1_Missense_Mutation_p.S162L	NM_000368	NP_000359	Q92574	TSC1_HUMAN	Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA.	162					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of translation|positive regulation of focal adhesion assembly|rRNA export from nucleus|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly	TSC1-TSC2 complex|cell cortex|lamellipodium|membrane	chaperone binding|protein N-terminus binding			NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GCACCATGATGACAGACGGCC	0.433			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				15	33					0	0	1	0	0	A	135798758	G	A	135798758	3	1	75	1	0	0	0	0	1	0	0	0	16602	1294	45	3	3081	3	TSC1	9	135798758	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08		135798758	5414673	37	3253											
COL17A1	1308	broad.mit.edu	37	chr10	105793848	105793848	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggccgatgtcagtgccAtagggacccctgtctcctgc	5	9	12	15	1	2	0	1	0	1	0	3	2	2	1	6	2	2	0	6	2	1	1	rs147001132	byFrequency	TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr10:105793848A>G	uc001kxr.3	-	51	4180	c.4011T>C	c.(4009-4011)taT>taC	p.Y1337Y	COL17A1_uc001kxq.3_5'Flank	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	1337	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGTCAGTGCCATAGGGACCCC	0.617													4	5					0	0	1	0	0	G	105793848	A	G	105793848	2	3	75	1	0	0	0	0	0	0	0	1	3674	224	8	3		3	COL17A1	10	105793848	Silent	SNP	A	TCGA-DU-6403-01A-11D-1705-08		105793848	29740899	38	3254											
OR5AP2	338675	broad.mit.edu	37	chr11	56409492	56409492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcaaattctcccagacaCgagaactgggtagagcaggg	15	5	12	9	1	1	3	0	0	1	3	2	4	1	3	1	2	3	3	1	2	4	2			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr11:56409492C>T	uc001njb.1	-	0	424	c.424G>A	c.(424-426)Gtg>Atg	p.V142M	OR8U8_uc001nit.2_Intron	NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AP, member 2 (OR5AP2), mRNA.	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V142M(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						CTCCCAGACACGAGAACTGGG	0.488													12	33					0	0	1	0	0	T	56409492	C	T	56409492	3	4	75	1	0	0	0	0	1	0	0	0	11144	536	19	1	530	1	OR5AP2	11	56409492	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08		56409492	78597024	39	3255											
PRCP	5547	broad.mit.edu	37	chr11	82571020	82571020	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgaatctgcacataccGtgttattacaaaaccagata	15	12	5	9	1	2	2	1	1	1	1	2	2	2	2	2	0	4	2	2	0	7	5			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr11:82571020G>A	uc001ozs.3	-	2	422	c.309_splice	c.e2+1	p.T103_splice	PRCP_uc001ozr.3_Splice_Site_p.T124_splice	NM_005040	NP_005031	P42785	PCP_HUMAN	Homo sapiens prolylcarboxypeptidase (angiotensinase C) (PRCP), transcript variant 1, mRNA.	103					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TGCACATACCGTGTTATTACA	0.353													8	31					0	0	1	0	0	A	82571020	G	A	82571020	5	1	75	1	0	0	0	0	0	0	1	0	12449	1159	40	1	1214	1	PRCP	11	82571020	Splice_Site	SNP	G	TCGA-DU-6403-01A-11D-1705-08	26161528	82571020	52435496	40	3256											
ESAM	90952	broad.mit.edu	37	chr11	124624651	124624651	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaggcttaaagacccacGgatgacatctgtggacacaa	13	7	12	9	1	1	3	0	2	1	1	1	5	1	5	1	4	0	1	1	4	3	1			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr11:124624651G>A	uc001qav.4	-	4	789	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	VSIG2_uc001qas.3_5'Flank|VSIG2_uc001qat.3_5'Flank|ESAM_uc010sao.2_Missense_Mutation_p.R27C|ESAM_uc001qau.4_Missense_Mutation_p.R133C|ESAM_uc001qaw.4_Non-coding_Transcript|ESAM_uc001qax.4_Non-coding_Transcript	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN	Homo sapiens endothelial cell adhesion molecule (ESAM), mRNA.	206	Ig-like C2-type.				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		AAAGACCCACGGATGACATCT	0.478													30	63					0	0	1	0	0	A	124624651	G	A	124624651	3	1	75	1	0	0	0	0	1	0	0	0	5247	1116	39	2	568	2	ESAM	11	124624651	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	42053631	124624651	10381865	41	3257											
ST14	6768	broad.mit.edu	37	chr11	130079588	130079588	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacccctgtccagcgtggAggcggatgggcggatcttcc	5	7	17	12	3	1	0	0	0	1	0	3	4	3	4	4	6	1	0	4	6	0	1			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr11:130079588A>G	uc001qfw.3	+	18	2631	c.2438A>G	c.(2437-2439)gAg>gGg	p.E813G		NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	813	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TCCAGCGTGGAGGCGGATGGG	0.692													3	26					0	0	1	0	0	G	130079588	A	G	130079588	3	3	75	1	0	0	0	0	1	0	0	0	15210	304	11	4	2512	4	ST14	11	130079588	Missense_Mutation	SNP	A	TCGA-DU-6403-01A-11D-1705-08	5454937	130079588	4926928	42	3258											
TDRD3	81550	broad.mit.edu	37	chr13	61103049	61103049	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagctttcagtggtataaaaAttgaaaaacattttaatgta	18	14	6	3	0	1	1	1	1	0	0	1	1	1	1	0	1	2	3	0	1	9	7			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr13:61103049A>G	uc001vhz.4	+	10	2199	c.1411A>G	c.(1411-1413)Att>Gtt	p.I471V	TDRD3_uc010aef.2_Missense_Mutation_p.I296V|TDRD3_uc001via.3_Missense_Mutation_p.I471V|TDRD3_uc010aeg.3_Missense_Mutation_p.I564V|TDRD3_uc001vib.4_Missense_Mutation_p.I470V	NM_001146071	NP_110421	Q9H7E2	TDRD3_HUMAN	Homo sapiens tudor domain containing 3 (TDRD3), transcript variant 3, mRNA.	471					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		TGGTATAAAAATTGAAAAACA	0.303													3	30					0	0	1	0	0	G	61103049	A	G	61103049	3	3	75	1	0	0	0	0	1	0	0	0	15729	101	4	3	1732	3	TDRD3	13	61103049	Missense_Mutation	SNP	A	TCGA-DU-6403-01A-11D-1705-08		61103049	54066829	43	3259											
DLGAP5	9787	broad.mit.edu	37	chr14	55619340	55619340	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aattaaatctggtaatccagGacactgagcatcttctatgc	13	12	7	9	0	3	1	0	1	3	0	4	2	4	2	1	2	2	2	1	2	5	4			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr14:55619340G>T	uc001xbs.3	-	15	2306	c.2089C>A	c.(2089-2091)Cct>Act	p.P697T	DLGAP5_uc001xbt.3_Missense_Mutation_p.P697T	NM_014750	NP_055565	Q15398	DLGP5_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 5 (DLGAP5), transcript variant 1, mRNA.	697					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						GGTAATCCAGGACACTGAGCA	0.323													5	16					1.23904e-05	1.29948e-05	1	1	0	T	55619340	G	T	55619340	3	4	75	1	0	0	0	0	1	0	0	0	4563	1174	41	5	562	5	DLGAP5	14	55619340	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08		55619340	51730200	44	3260											
TUBGCP5	114791	broad.mit.edu	37	chr15	22835954	22835954	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaacagccacaaaatagAaaaaacaatcgaagggtaag	21	5	8	7	1	1	1	1	0	0	1	2	2	1	1	1	1	3	1	1	1	10	2			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr15:22835954A>G	uc001yuq.2	+	1	315	c.185A>G	c.(184-186)gAa>gGa	p.E62G	TUBGCP5_uc001yur.4_Missense_Mutation_p.E62G	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	62					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CACAAAATAGAAAAAACAATC	0.313													52	85					0	0	1	0	0	G	22835954	A	G	22835954	3	3	75	1	0	0	0	0	1	0	0	0	16766	246	9	3	191	3	TUBGCP5	15	22835954	Missense_Mutation	SNP	A	TCGA-DU-6403-01A-11D-1705-08		22835954	79695438	45	3261											
DUOX2	50506	broad.mit.edu	37	chr15	45401122	45401122	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctggccacatagtctgtacgGgagaatttgccagggccagg	9	8	14	10	1	1	1	0	0	1	1	1	2	1	1	3	4	2	1	3	4	3	3			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr15:45401122G>A	uc001zun.3	-	11	1466	c.1263C>T	c.(1261-1263)tcC>tcT	p.S421S	DUOX2_uc010bea.3_Silent_p.S421S	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	421	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AGTCTGTACGGGAGAATTTGC	0.557													12	41					0	0	1	0	0	A	45401122	G	A	45401122	2	1	75	1	0	0	0	0	0	0	0	1	4801	1219	43	3		3	DUOX2	15	45401122	Silent	SNP	G	TCGA-DU-6403-01A-11D-1705-08	22565168	45401122	57130270	46	3262											
MYH11	4629	broad.mit.edu	37	chr16	15839063	15839063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgaatcaccttcatggCggtcagctgctgctgcctct	5	12	9	15	1	5	1	3	1	2	0	5	1	5	1	3	2	4	3	3	2	1	1			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr16:15839063C>T	uc002ddx.3	-	20	2571	c.2464G>A	c.(2464-2466)Gcc>Acc	p.A822T	MYH11_uc002ddv.3_Missense_Mutation_p.A822T|MYH11_uc002ddw.3_Missense_Mutation_p.A815T|MYH11_uc002ddy.3_Missense_Mutation_p.A815T|MYH11_uc010bvg.3_Missense_Mutation_p.A647T	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	815					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ACCTTCATGGCGGTCAGCTGC	0.617			T	CBFB	AML								22	42					0	0	1	0	0	T	15839063	C	T	15839063	3	4	75	1	0	0	0	0	1	0	0	0	10031	768	27	1	3598	1	MYH11	16	15839063	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08		15839063	74515690	47	3263											
DVL2	1856	broad.mit.edu	37	chr17	7130442	7130442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accactgaggtctccgaagaCgtaatagcactgctcagaga	13	7	10	11	2	2	3	1	1	1	2	3	5	2	3	2	1	2	3	2	1	3	2			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr17:7130442C>T	uc002gez.1	-	12	1792	c.1510G>A	c.(1510-1512)Gtc>Atc	p.V504I	DVL2_uc010vtr.1_Missense_Mutation_p.V498I	NM_004422	NP_004413	O14641	DVL2_HUMAN	Homo sapiens dishevelled, dsh homolog 2 (Drosophila) (DVL2), mRNA.	504	DEP.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TCTCCGAAGACGTAATAGCAC	0.587													37	67					0	0	1	0	0	T	7130442	C	T	7130442	3	4	75	1	0	0	0	0	1	0	0	0	4836	536	19	1	712	1	DVL2	17	7130442	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08		7130442	74064768	48	3264											
MYOCD	93649	broad.mit.edu	37	chr17	12620681	12620681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggctaaaaattccctgaagCgcaaagccagaaacaggtgc	16	5	10	10	1	0	2	0	1	0	1	1	2	1	2	2	2	4	2	2	2	6	2			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr17:12620681C>T	uc002gno.2	+	3	495	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	MYOCD_uc002gnn.2_Missense_Mutation_p.R66C|MYOCD_uc002gnp.1_5'Flank	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	66					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TTCCCTGAAGCGCAAAGCCAG	0.398													6	14					0	0	1	0	0	T	12620681	C	T	12620681	3	4	75	1	0	0	0	0	1	0	0	0	10087	768	27	1	210	1	MYOCD	17	12620681	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08	5490239	12620681	68574529	49	3265											
KRT31	3881	broad.mit.edu	37	chr17	39553754	39553754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgggaggagcagctggtgCggcagctcaggctgggcagg	6	4	21	10	2	1	0	1	0	0	0	1	2	1	2	1	7	4	6	1	7	0	0			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr17:39553754C>T	uc002hwn.3	-	0	91	c.38G>A	c.(37-39)cGc>cAc	p.R13H	KRT31_uc010cxn.3_Missense_Mutation_p.R13H	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	13	Head.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GCAGCTGGTGCGGCAGCTCAG	0.647													8	21					0	0	1	0	0	T	39553754	C	T	39553754	3	4	75	1	0	0	0	0	1	0	0	0	8467	768	27	1	1240	1	KRT31	17	39553754	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08	26933073	39553754	41641456	50	3266											
NPC1	4864	broad.mit.edu	37	chr18	21115459	21115459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggttgaccaaggatacagCgttcagactgatgccccaga	12	7	11	11	1	1	4	1	2	0	2	1	5	1	5	3	2	3	2	3	2	2	3			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr18:21115459C>T	uc002kum.4	-	21	3725	c.3451G>A	c.(3451-3453)Gct>Act	p.A1151T	NPC1_uc010dlu.1_5'Flank|NPC1_uc010xaz.2_Missense_Mutation_p.A884T	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	1151					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	p.A1151V(1)		breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAGGATACAGCGTTCAGACTG	0.512													3	11					0	0	1	0	0	T	21115459	C	T	21115459	3	4	75	1	0	0	0	0	1	0	0	0	10570	768	27	1	401	1	NPC1	18	21115459	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08		21115459	56961789	51	3267											
ATP8B3	148229	broad.mit.edu	37	chr19	1785228	1785228	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggtggtagtcatgatggcGtagaaaccaaggctgaggag	11	8	17	5	1	1	3	1	2	0	1	1	4	1	4	1	5	1	3	1	5	4	2			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr19:1785228G>A	uc002ltw.3	-	26	3696	c.3462C>T	c.(3460-3462)taC>taT	p.Y1154Y	ATP8B3_uc002ltv.3_Silent_p.Y1117Y|ATP8B3_uc002ltx.3_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	1154					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		TCATGATGGCGTAGAAACCAA	0.597													5	8					0	0	1	0	0	A	1785228	G	A	1785228	2	1	75	1	0	0	0	0	0	0	0	1	1196	1140	40	1		1	ATP8B3	19	1785228	Silent	SNP	G	TCGA-DU-6403-01A-11D-1705-08		1785228	57343755	52	3268											
CYP4F3	4051	broad.mit.edu	37	chr19	15770103	15770103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacgctgctgcgcttccgcGtcctgcctgaccacaccgag	5	8	10	18	5	1	1	1	1	0	0	3	2	3	1	5	0	3	3	5	0	0	1			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr19:15770103G>A	uc010xok.2	+	12	1521	c.1471G>A	c.(1471-1473)Gtc>Atc	p.V491I	CYP4F3_uc010xol.2_Missense_Mutation_p.V491I|CYP4F3_uc002nbj.3_Missense_Mutation_p.V491I|CYP4F3_uc010xom.2_Missense_Mutation_p.V342I|CYP4F3_uc002nbk.3_Missense_Mutation_p.V491I|CYP4F3_uc010xon.2_Missense_Mutation_p.V201I	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	491					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	p.V491L(2)|p.R490R(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GCGCTTCCGCGTCCTGCCTGA	0.672													9	19					0	0	1	0	0	A	15770103	G	A	15770103	3	1	75	1	0	0	0	0	1	0	0	0	4190	1145	40	1	1517	1	CYP4F3	19	15770103	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	13984875	15770103	43358880	53	3269											
MPPED1	758	broad.mit.edu	37	chr22	43870690	43870690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgaccaggagttcatggccGacctcatcaagcaggacttt	10	10	10	11	1	3	1	3	1	0	0	3	4	3	3	3	3	1	2	3	3	1	3			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr22:43870690G>A	uc011apz.2	+	3	921	c.580G>A	c.(580-582)Gac>Aac	p.D194N	MPPED1_uc011apv.2_Missense_Mutation_p.D161N|MPPED1_uc011apw.2_Missense_Mutation_p.D55N|MPPED1_uc011apx.2_Missense_Mutation_p.D3N|MPPED1_uc011apy.2_Missense_Mutation_p.D161N	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN	Homo sapiens metallophosphoesterase domain containing 1 (MPPED1), mRNA.	161							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GTTCATGGCCGACCTCATCAA	0.542													32	77					0	0	1	0	0	A	43870690	G	A	43870690	3	1	75	1	0	0	0	0	1	0	0	0	9741	1058	37	2	491	2	MPPED1	22	43870690	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08		43870690	7433876	54	3270											
PHKA2	5256	broad.mit.edu	37	chrX	18912471	18912471	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtactcgggctgcggcacgcGgttcagcaccgattcgacat	7	8	13	13	6	1	0	1	0	0	0	3	2	1	0	1	3	3	5	1	3	1	3			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:18912471G>C	uc004cyv.4	-	31	3818	c.3388C>G	c.(3388-3390)Cgc>Ggc	p.R1130G	LOC100132163_uc004cyt.3_Non-coding_Transcript|PHKA2_uc010nfe.1_Missense_Mutation_p.R162G|PHKA2_uc010nff.1_Non-coding_Transcript	NM_000292	NP_000283	P46019	KPB2_HUMAN	Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.	1130					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	p.R1130C(2)|p.N1129K(1)		NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TGCGGCACGCGGTTCAGCACC	0.602													18	34					0	0	1	0	0	C	18912471	G	C	18912471	3	2	75	1	0	0	0	0	1	0	0	0	11844	1116	39	5	327	5	PHKA2	23	18912471	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08		18912471	136358089	55	3271											
FAM48B2	170067	broad.mit.edu	37	chrX	24330363	24330363	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agagaagcggatcattaaacGactgcatgatgtttggcttg	12	11	12	6	2	1	2	1	1	0	1	1	5	1	3	0	2	3	3	0	2	3	3			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:24330363G>C	uc011mjw.2	-	0	1070	c.1070C>G	c.(1069-1071)tCg>tGg	p.S357W		NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN	Homo sapiens family with sequence similarity 48, member B2 (FAM48B2), mRNA.	357										breast(1)|endometrium(4)|large_intestine(1)|liver(1)|lung(12)|ovary(2)|prostate(1)|skin(1)	23						ATCATTAAACGACTGCATGAT	0.542													18	82					0	0	1	0	0	C	24330363	G	C	24330363	3	2	75	1	0	0	0	0	1	0	0	0	5574	1059	37	5	1386	5	FAM48B2	23	24330363	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	5417892	24330363	130940197	56	3272											
CYBB	1536	broad.mit.edu	37	chrX	37660587	37660587	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttggcgatctcaacagaagGtggtcatcaccaaggtactg	11	10	11	9	1	3	1	3	0	1	1	4	2	3	1	1	4	2	1	1	4	4	2			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:37660587G>C	uc004ddr.2	+	7	944	c.883G>C	c.(883-885)Gtg>Ctg	p.V295L	CYBB_uc011mke.1_Non-coding_Transcript|CYBB_uc011mkf.1_Missense_Mutation_p.V263L|CYBB_uc011mkg.1_Missense_Mutation_p.V28L	NM_000397	NP_000388	P04839	CY24B_HUMAN	Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA.	295	FAD-binding FR-type.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						TCAACAGAAGGTGGTCATCAC	0.418													81	149					0	0	1	0	0	C	37660587	G	C	37660587	3	2	75	1	0	0	0	0	1	0	0	0	4133	1261	44	5	913	5	CYBB	23	37660587	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	13330224	37660587	117609973	57	3273											
BCOR	54880	broad.mit.edu	37	chrX	39933842	39933842	+	Missense_Mutation	SNP	C	C	T																															cgatgggatgtggggaccgaCgtagtgaggtggcggcaggt																										TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:39933842C>T	uc004den.4	-	3	1049	c.757G>A	c.(757-759)Gtc>Atc	p.V253I	BCOR_uc004dep.4_Missense_Mutation_p.V253I|BCOR_uc004deo.4_Missense_Mutation_p.V253I|BCOR_uc004dem.4_Missense_Mutation_p.V253I|BCOR_uc004deq.4_Missense_Mutation_p.V253I	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	253					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						TGGGGACCGACGTAGTGAGGT	0.612			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						7	20					0	0	1	0	0	T	39933842	C	T	39933842	3	4	75	1	0	0	0	0	1	0	0	0	1386	536	19	1	4558	1	BCOR	23	39933842	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08	2273255	39933842	115336718	58	3274	15	2									
BCOR	54880	broad.mit.edu	37	chrX	39933843	39933843	+	Nonsense_Mutation	SNP	G	G	T																															gatgggatgtggggaccgacGtagtgaggtggcggcaggta																										TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:39933843G>T	uc004den.4	-	3	1048	c.756C>A	c.(754-756)taC>taA	p.Y252*	BCOR_uc004dep.4_Nonsense_Mutation_p.Y252*|BCOR_uc004deo.4_Nonsense_Mutation_p.Y252*|BCOR_uc004dem.4_Nonsense_Mutation_p.Y252*|BCOR_uc004deq.4_Nonsense_Mutation_p.Y252*	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	252					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						GGGGACCGACGTAGTGAGGTG	0.607			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						7	20					0.00198382	0.00200716	1	1	0	T	39933843	G	T	39933843	4	4	75	1	0	0	0	0	0	1	0	0	1386	1140	40	5	4559	5	BCOR	23	39933843	Nonsense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	1	39933843	115336717	59	3275	15	2									
PCDH19	57526	broad.mit.edu	37	chrX	99662058	99662058	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcgcagcgcgtagatgtcgCctgagttgggattgatggag	8	10	16	7	4	0	3	0	2	0	1	2	5	0	5	1	2	1	3	1	2	1	3			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:99662058C>A	uc010nmz.3	-	0	3214	c.1538G>T	c.(1537-1539)gGc>gTc	p.G513V	PCDH19_uc004efw.4_Missense_Mutation_p.G513V|PCDH19_uc004efx.4_Missense_Mutation_p.G513V	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	513	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GTAGATGTCGCCTGAGTTGGG	0.587													39	60					8.73648e-17	9.63253e-17	1	1	0	A	99662058	C	A	99662058	3	1	75	1	0	0	0	0	1	0	0	0	11514	739	26	5	1932	5	PCDH19	23	99662058	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08	59728215	99662058	55608502	60	3276											
TFDP3	51270	broad.mit.edu	37	chrX	132351926	132351926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtccctttcctctgcaccGtctcccagaccttcatggaa	6	12	7	16	1	3	1	1	0	2	1	6	2	5	2	5	2	1	1	5	2	1	2			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:132351926G>A	uc004exb.1	-	0	451	c.362C>T	c.(361-363)aCg>aTg	p.T121M		NM_016521	NP_057605	Q5H9I0	TFDP3_HUMAN	Homo sapiens transcription factor Dp family, member 3 (TFDP3), mRNA.	121		Critical for repression of E2F activity.				transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					CCTCTGCACCGTCTCCCAGAC	0.592													35	81					0	0	1	0	0	A	132351926	G	A	132351926	3	1	75	1	0	0	0	0	1	0	0	0	15796	1145	40	1	859	1	TFDP3	23	132351926	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	32689868	132351926	22918634	61	3277											
AFF2	2334	broad.mit.edu	37	chrX	148069037	148069037	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcactagcaatgtgttacGgggctatgaacactgggata	12	10	11	8	1	1	1	1	1	0	0	1	2	1	2	0	3	3	3	0	3	6	4			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:148069037G>T	uc004fcp.3	+	19	4243	c.3764G>T	c.(3763-3765)cGg>cTg	p.R1255L	AFF2_uc004fcq.3_Missense_Mutation_p.R1245L|AFF2_uc004fcr.3_Missense_Mutation_p.R1216L|AFF2_uc011mxb.2_Missense_Mutation_p.R1220L|AFF2_uc004fcs.3_Missense_Mutation_p.R1220L|AFF2_uc011mxc.2_Missense_Mutation_p.R896L	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	1255					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AATGTGTTACGGGGCTATGAA	0.483													38	87					4.17593e-13	4.54595e-13	1	1	0	T	148069037	G	T	148069037	3	4	75	1	0	0	0	0	1	0	0	0	357	1116	39	5	3897	5	AFF2	23	148069037	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	15717111	148069037	7201523	62	3278											
L1CAM	3897	broad.mit.edu	37	chrX	153133300	153133300	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggactccaggacacgcGcacctggctctgcgtcagca	8	6	12	15	3	2	0	1	0	1	0	3	2	3	2	2	3	3	4	2	3	0	0			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:153133300G>A	uc004fjb.3	-	14	2002	c.1894C>T	c.(1894-1896)Cgc>Tgc	p.R632C	L1CAM_uc004fjc.3_Missense_Mutation_p.R632C|L1CAM_uc010nuo.3_Missense_Mutation_p.R627C	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	632	Fibronectin type-III 1.		R -> P (in MASA).		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.R632S(2)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGACACGCGCACCTGGCTC	0.667													25	62					0	0	1	0	0	A	153133300	G	A	153133300	3	1	75	1	0	0	0	0	1	0	0	0	8588	1087	38	1	1935	1	L1CAM	23	153133300	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	5064263	153133300	2137260	63	3279											
MAGI3	260425	broad.mit.edu	37	chr1	114123223	114123223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggattataatttcatttccGttgaacagttcaaagcactg	12	15	7	7	1	2	1	2	1	0	0	3	2	3	2	1	1	2	3	1	1	4	6			TCGA-DU-6404-01A-11D-1705-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b5382c-99ce-4fe0-aafb-4dc893198379	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr1:114123223G>A	uc001edk.3	+	2	674	c.493G>A	c.(493-495)Gtt>Att	p.V165I	MAGI3_uc001edh.3_Missense_Mutation_p.V165I|MAGI3_uc001edi.4_Missense_Mutation_p.V165I|MAGI3_uc010owm.2_Missense_Mutation_p.V165I	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	165	Guanylate kinase-like.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTCATTTCCGTTGAACAGTT	0.393													18	72					0	0	0.592651	0	0	A	114123223	G	A	114123223	3	1	76	1	0	0	0	0	1	0	0	0	9192	1145	40	1	503	1	MAGI3	1	114123223	Missense_Mutation	SNP	G	TCGA-DU-6404-01A-11D-1705-08		114123223	135127398	1	3280											
FMNL2	114793	broad.mit.edu	37	chr2	153473700	153473700	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggaacaaggagctggatgtCgttcgggtaagtgtaatgat	12	10	15	4	2	0	1	0	1	0	0	2	4	0	4	0	4	2	4	0	4	4	3			TCGA-DU-6404-01A-11D-1705-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b5382c-99ce-4fe0-aafb-4dc893198379	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr2:153473700C>T	uc002tye.3	+	12	1675	c.1308C>T	c.(1306-1308)gtC>gtT	p.V436V	FMNL2_uc010fob.3_5'Flank|FMNL2_uc002tyf.3_5'Flank	NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	436	GBD/FH3.				actin cytoskeleton organization	cytoplasm	Rho GTPase binding|actin binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AGCTGGATGTCGTTCGGGTAA	0.473													17	24					0	0	0.520397	0	0	T	153473700	C	T	153473700	2	4	76	1	0	0	0	0	0	0	0	1	5952	871	31	2		2	FMNL2	2	153473700	Silent	SNP	C	TCGA-DU-6404-01A-11D-1705-08		153473700	89725673	2	3281											
KALRN	8997	broad.mit.edu	37	chr3	124053129	124053129	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggtcagccaggatggcaaAgcactacttgatgtgctgca	11	8	12	10	0	1	1	1	1	0	0	1	2	1	2	1	3	5	4	1	3	2	2			TCGA-DU-6404-01A-11D-1705-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b5382c-99ce-4fe0-aafb-4dc893198379	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr3:124053129A>C	uc003ehg.3	+	8	1555	c.1428A>C	c.(1426-1428)aaA>aaC	p.K476N	KALRN_uc010hrv.1_Missense_Mutation_p.K476N|KALRN_uc003ehf.1_Missense_Mutation_p.K476N|KALRN_uc011bjy.1_Missense_Mutation_p.K476N	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	476					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.G475S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGGATGGCAAAGCACTACTTG	0.572													38	71					0	0	0.812448	0	0	C	124053129	A	C	124053129	3	2	76	1	0	0	0	0	1	0	0	0	7975	69	3	5	1462	5	KALRN	3	124053129	Missense_Mutation	SNP	A	TCGA-DU-6404-01A-11D-1705-08		124053129	73969301	3	3282											
ACOX3	8310	broad.mit.edu	37	chr4	8396382	8396382	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctcccgatgcaagtcctcGctggagctccaccaggtcca	7	8	10	16	2	1	0	0	0	1	0	6	2	4	1	5	2	2	3	5	2	1	0	rs142042116		TCGA-DU-6404-01A-11D-1705-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b5382c-99ce-4fe0-aafb-4dc893198379	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr4:8396382G>A	uc010idk.3	-	9	1289	c.1144C>T	c.(1144-1146)Cga>Tga	p.R382*	ACOX3_uc003glc.4_Nonsense_Mutation_p.R382*|ACOX3_uc003gld.4_Nonsense_Mutation_p.R382*	NM_003501	NP_003492	O15254	ACOX3_HUMAN	Homo sapiens acyl-CoA oxidase 3, pristanoyl (ACOX3), transcript variant 1, mRNA.	382					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GCAAGTCCTCGCTGGAGCTCC	0.542													16	10					0	0	0.500413	0	0	A	8396382	G	A	8396382	4	1	76	1	0	0	0	0	0	1	0	0	160	1095	38	1	994	1	ACOX3	4	8396382	Nonsense_Mutation	SNP	G	TCGA-DU-6404-01A-11D-1705-08		8396382	182757894	4	3283											
SPP1	6696	broad.mit.edu	37	chr4	88901213	88901213	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtagctttacaacaaatacCcagatgctgtggccacatgg	12	10	9	10	0	0	1	0	0	0	1	0	1	0	1	2	2	5	3	2	2	5	4			TCGA-DU-6404-01A-11D-1705-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b5382c-99ce-4fe0-aafb-4dc893198379	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr4:88901213C>T	uc003hra.3	+	3	274	c.109C>T	c.(109-111)Cca>Tca	p.P37S	SPP1_uc011cde.2_Missense_Mutation_p.P50S|SPP1_uc003hrb.3_Intron|SPP1_uc003hrc.3_Missense_Mutation_p.P37S|SPP1_uc003hrd.3_Intron	NM_001040058	NP_001035147	P10451	OSTP_HUMAN	Homo sapiens secreted phosphoprotein 1 (SPP1), transcript variant 1, mRNA.	37					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		CAACAAATACCCAGATGCTGT	0.363													23	56					0	0	0.654019	0	0	T	88901213	C	T	88901213	3	4	76	1	0	0	0	0	1	0	0	0	15085	623	22	3	119	3	SPP1	4	88901213	Missense_Mutation	SNP	C	TCGA-DU-6404-01A-11D-1705-08	80504831	88901213	102253063	5	3284											
ATG5	9474	broad.mit.edu	37	chr6	106764059	106764059	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgtccaaaccacacatctcGaagcacatctttgtcatctg	11	11	5	14	2	4	0	1	0	3	0	7	1	5	0	2	0	2	1	2	0	2	1			TCGA-DU-6404-01A-11D-1705-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b5382c-99ce-4fe0-aafb-4dc893198379	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr6:106764059G>A	uc003prf.3	-	1	378	c.25C>T	c.(25-27)Cga>Tga	p.R9*	ATG5_uc010kdb.3_Nonsense_Mutation_p.R9*|ATG5_uc003prg.3_5'UTR|ATG5_uc010kdc.3_Nonsense_Mutation_p.R9*	NM_004849	NP_004840	Q9H1Y0	ATG5_HUMAN	Homo sapiens ATG5 autophagy related 5 homolog (S. cerevisiae) (ATG5), mRNA.	9					apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		CACACATCTCGAAGCACATCT	0.368													42	68					0	0	0.840704	0	0	A	106764059	G	A	106764059	4	1	76	1	0	0	0	0	0	1	0	0	1100	1066	37	2	830	2	ATG5	6	106764059	Nonsense_Mutation	SNP	G	TCGA-DU-6404-01A-11D-1705-08		106764059	64351008	6	3285											
CTSG	1511	broad.mit.edu	37	chr14	25043508	25043508	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaatctgccttcgggggtcGtaggaaccgaagatgcggag	10	7	15	9	4	1	1	0	0	1	1	3	4	1	3	2	4	3	1	2	4	4	2			TCGA-DU-6404-01A-11D-1705-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b5382c-99ce-4fe0-aafb-4dc893198379	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr14:25043508G>A	uc001wpq.3	-	3	574	c.537C>T	c.(535-537)taC>taT	p.Y179Y		NM_001911	NP_001902	P08311	CATG_HUMAN	Homo sapiens cathepsin G (CTSG), mRNA.	179	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	p.Y179Y(2)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TTCGGGGGTCGTAGGAACCGA	0.627													18	19					0	0	0.575678	0	0	A	25043508	G	A	25043508	2	1	76	1	0	0	0	0	0	0	0	1	4035	1140	40	1		1	CTSG	14	25043508	Silent	SNP	G	TCGA-DU-6404-01A-11D-1705-08		25043508	82306032	7	3286											
SLC25A19	60386	broad.mit.edu	37	chr17	73282427	73282427	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagaatctgagctgggacGtgtcctttccagaaagctgt	10	10	13	8	1	1	3	0	1	1	2	3	6	3	4	2	1	2	2	2	1	2	1			TCGA-DU-6404-01A-11D-1705-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b5382c-99ce-4fe0-aafb-4dc893198379	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr17:73282427G>A	uc002jns.4	-	1	1156	c.246C>T	c.(244-246)caC>caT	p.H82H	SLC25A19_uc010dge.3_Silent_p.H82H|SLC25A19_uc002jnv.4_Silent_p.H82H|SLC25A19_uc002jnu.4_Silent_p.H82H|SLC25A19_uc002jnw.4_Silent_p.H82H|SLC25A19_uc002jnt.4_Silent_p.H82H	NM_021734	NP_068380	Q9HC21	TPC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 (SLC25A19), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	82						integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			GAGCTGGGACGTGTCCTTTCC	0.592													41	77					0	0	0.827153	0	0	A	73282427	G	A	73282427	2	1	76	1	0	0	0	0	0	0	0	1	14481	1136	40	1		1	SLC25A19	17	73282427	Silent	SNP	G	TCGA-DU-6404-01A-11D-1705-08		73282427	7912783	8	3287											
FPR1	2357	broad.mit.edu	37	chr19	52250087	52250087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgactgtgtgtgtcatcCggaatccagccacccagatc	8	10	11	12	1	1	2	1	1	0	1	4	3	3	3	4	2	1	0	4	2	1	0	rs145808420		TCGA-DU-6404-01A-11D-1705-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b5382c-99ce-4fe0-aafb-4dc893198379	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr19:52250087C>T	uc021uyn.1	-	2	307	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	FPR1_uc002pxq.3_Missense_Mutation_p.R54Q|FPR1_uc021uyo.1_Missense_Mutation_p.R54Q	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	54					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of MAPK activity|cellular component movement|chemotaxis|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GTGTGTCATCCGGAATCCAGC	0.527													18	22					0	0	0.557998	0	0	T	52250087	C	T	52250087	3	4	76	1	0	0	0	0	1	0	0	0	6038	652	23	2	895	2	FPR1	19	52250087	Missense_Mutation	SNP	C	TCGA-DU-6404-01A-11D-1705-08		52250087	6878896	9	3288											
TRO	7216	broad.mit.edu	37	chrX	54953051	54953051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcgcaagttggggctgCgccctgggtatgactgggct	4	10	17	10	2	0	1	0	1	0	0	0	1	0	1	1	4	3	6	1	4	2	2			TCGA-DU-6404-01A-11D-1705-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b5382c-99ce-4fe0-aafb-4dc893198379	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chrX:54953051C>T	uc004dtq.3	+	8	1800	c.1693C>T	c.(1693-1695)Cgc>Tgc	p.R565C	TRO_uc004dts.3_Missense_Mutation_p.R565C|TRO_uc004dtr.3_Missense_Mutation_p.R565C|TRO_uc004dtt.3_Non-coding_Transcript|TRO_uc004dtu.3_Non-coding_Transcript|TRO_uc004dtv.3_Missense_Mutation_p.R168C|TRO_uc011mok.2_Missense_Mutation_p.R96C|TRO_uc004dtw.3_Missense_Mutation_p.R168C|TRO_uc004dtx.3_5'UTR|SNORA11_uc022bxj.1_5'Flank	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	Homo sapiens trophinin (TRO), transcript variant 6, mRNA.	565	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GTTGGGGCTGCGCCCTGGGTA	0.577													52	72					0	0	0.870114	0	0	T	54953051	C	T	54953051	3	4	76	1	0	0	0	0	1	0	0	0	16571	768	27	1	1723	1	TRO	23	54953051	Missense_Mutation	SNP	C	TCGA-DU-6404-01A-11D-1705-08		54953051	100317509	10	3289											
GDPD2	54857	broad.mit.edu	37	chrX	69652187	69652187	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaggataatgtctcggtgaaCctatttgtagtgaacaagcc	13	11	10	7	1	1	2	0	2	1	0	2	3	1	3	2	2	3	1	2	2	7	4			TCGA-DU-6404-01A-11D-1705-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b5382c-99ce-4fe0-aafb-4dc893198379	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chrX:69652187C>A	uc011mpk.2	+	13	1852	c.1491C>A	c.(1489-1491)aaC>aaA	p.N497K	GDPD2_uc010nky.2_3'UTR|GDPD2_uc004dyh.3_Missense_Mutation_p.N446K|GDPD2_uc011mpl.2_Missense_Mutation_p.N367K|GDPD2_uc011mpm.2_Missense_Mutation_p.N367K	NM_001171192	NP_001164663	Q9HCC8	GDPD2_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 2 (GDPD2), transcript variant 1, mRNA.	446					glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					TCTCGGTGAACCTATTTGTAG	0.527													11	138					0.0135373	0.0141526	0.411799	1	0	A	69652187	C	A	69652187	3	1	76	1	0	0	0	0	1	0	0	0	6324	506	18	5	1541	5	GDPD2	23	69652187	Missense_Mutation	SNP	C	TCGA-DU-6404-01A-11D-1705-08	14699136	69652187	85618373	11	3290											
KLHL13	90293	broad.mit.edu	37	chrX	117043975	117043975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggaaaattcttcaagaCgaaactgttaacgtatttat	15	13	7	6	2	2	1	1	0	1	1	2	3	2	2	0	1	3	3	0	1	7	6			TCGA-DU-6404-01A-11D-1705-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b5382c-99ce-4fe0-aafb-4dc893198379	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chrX:117043975C>T	uc011mtp.2	-	5	797	c.664G>A	c.(664-666)Gtc>Atc	p.V222I	KLHL13_uc004eqk.3_Missense_Mutation_p.V168I|KLHL13_uc004eql.3_Missense_Mutation_p.V219I|KLHL13_uc011mtn.2_Missense_Mutation_p.V59I|KLHL13_uc011mto.2_Missense_Mutation_p.V213I|KLHL13_uc011mtq.2_Missense_Mutation_p.V203I|KLHL13_uc004eqm.3_Missense_Mutation_p.V177I|KLHL13_uc022cde.1_Missense_Mutation_p.V203I	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	219	BACK.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TTCTTCAAGACGAAACTGTTA	0.423													20	116					0	0	0.608945	0	0	T	117043975	C	T	117043975	3	4	76	1	0	0	0	0	1	0	0	0	8369	536	19	1	1324	1	KLHL13	23	117043975	Missense_Mutation	SNP	C	TCGA-DU-6404-01A-11D-1705-08	47391788	117043975	38226585	12	3291											
G6PD	2539	broad.mit.edu	37	chrX	153761826	153761826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatctgagttggtggaggCgggcttctccatggccacca	6	10	14	11	1	3	1	1	1	2	0	4	2	3	2	3	5	0	2	3	5	0	2			TCGA-DU-6404-01A-11D-1705-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b5382c-99ce-4fe0-aafb-4dc893198379	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chrX:153761826C>T	uc004fly.1	-	7	942	c.829G>A	c.(829-831)Gcc>Acc	p.A277T	G6PD_uc004flx.1_Missense_Mutation_p.A307T	NM_001042351	NP_001035810	P11413	G6PD_HUMAN	Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 2, mRNA.	277					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	NADP binding|glucose binding|glucose-6-phosphate dehydrogenase activity|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTGGTGGAGGCGGGCTTCTCC	0.637													4	31					0	0	0.150653	0	0	T	153761826	C	T	153761826	3	4	76	1	0	0	0	0	1	0	0	0	6146	768	27	1	742	1	G6PD	23	153761826	Missense_Mutation	SNP	C	TCGA-DU-6404-01A-11D-1705-08	36717851	153761826	1508734	13	3292											
OTUD3	23252	broad.mit.edu	37	chr1	20216922	20216923	+	Frame_Shift_Ins	INS	-	-	A																															gatcaattggagggacactcINSacgaaatcatctcaagcaca																										TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr1:20216922_20216923insA	uc001bcs.4	+	1	385_386	c.266_267insA	c.(265-267)tcafs	p.S89fs		NM_015207	NP_056022	Q5T2D3	OTUD3_HUMAN	Homo sapiens OTU domain containing 3 (OTUD3), mRNA.	89	OTU.									breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGGACACTCACGAAATCATC	0.416													86	48	---	---	---	---						A	20216923	-	A	20216922	7	5	77	1	0	1	1	0	0	0	0	0	11313	838	29	0	272	0	OTUD3	1	20216922	Frame_Shift_Ins	INS	-	TCGA-DU-6405-01A-11D-1705-08		20216922	229033699	1	3293											
MYOM3	127294	broad.mit.edu	37	chr1	24387556	24387556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcggccgacttactcttctCgatgatggccaaggttctga	8	12	10	11	3	3	2	0	2	3	0	5	4	3	2	2	3	1	1	2	3	2	3			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr1:24387556C>T	uc001bin.4	-	34	4151	c.3988G>A	c.(3988-3990)Gag>Aag	p.E1330K	MYOM3_uc001bil.4_Missense_Mutation_p.E223K|MYOM3_uc001bim.4_Missense_Mutation_p.E987K	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	1330										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TTACTCTTCTCGATGATGGCC	0.488													14	36					0	0	0.479597	0	0	T	24387556	C	T	24387556	3	4	77	1	0	0	0	0	1	0	0	0	10093	893	31	2	337	2	MYOM3	1	24387556	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	4170634	24387556	224863065	2	3294											
LINGO4	339398	broad.mit.edu	37	chr1	151774674	151774674	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggcccccggagccacaaaTaccaggtggttgtccccaac	11	5	10	15	1	0	0	0	0	0	0	1	1	1	1	6	4	3	1	6	4	4	2			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr1:151774674T>C	uc001ezf.1	-	1	697	c.507A>G	c.(505-507)gtA>gtG	p.V169V	LINGO4_uc021oyu.1_Silent_p.V169V	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	169						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAGCCACAAATACCAGGTGGT	0.607													3	70					0	0	0.115264	0	0	C	151774674	T	C	151774674	2	2	77	1	0	0	0	0	0	0	0	1	8817	1393	49	3		3	LINGO4	1	151774674	Silent	SNP	T	TCGA-DU-6405-01A-11D-1705-08	127387118	151774674	97475947	3	3295											
OLFML2B	25903	broad.mit.edu	37	chr1	161967984	161967984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtgctgaggaccagggtgCggtccgagcgttcaggtcgc	6	7	17	11	4	1	1	1	1	0	0	3	3	2	2	2	4	3	2	2	4	0	1			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr1:161967984C>T	uc010pkq.2	-	5	1532	c.1108G>A	c.(1108-1110)Gca>Aca	p.A370T	OLFML2B_uc001gbu.3_Missense_Mutation_p.A369T	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	369								p.A369T(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GACCAGGGTGCGGTCCGAGCG	0.627													66	98					0	0	0.870114	0	0	T	161967984	C	T	161967984	3	4	77	1	0	0	0	0	1	0	0	0	10858	768	27	1	1159	1	OLFML2B	1	161967984	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	10193310	161967984	87282637	4	3296											
TPO	7173	broad.mit.edu	37	chr2	1459909	1459909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttgtcacagatgatgaccGctattctgacctcctgatgg	8	12	11	10	1	2	5	1	4	1	1	3	5	3	5	3	2	0	2	3	2	1	3			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr2:1459909G>A	uc002qwr.3	+	6	760	c.674G>A	c.(673-675)cGc>cAc	p.R225H	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.R225H|TPO_uc002qwx.3_Missense_Mutation_p.R225H|TPO_uc002qwu.3_Missense_Mutation_p.R225H|TPO_uc010yio.2_Missense_Mutation_p.R225H|TPO_uc010yip.2_Missense_Mutation_p.R225H	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	225					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GATGATGACCGCTATTCTGAC	0.537													22	22					0	0	0.654019	0	0	A	1459909	G	A	1459909	3	1	77	1	0	0	0	0	1	0	0	0	16407	1087	38	1	696	1	TPO	2	1459909	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08		1459909	241739464	5	3297											
ITGA4	3676	broad.mit.edu	37	chr2	182396426	182396426	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgtttaaatttcttgtgtAattttgggaaaatggaaagt	13	18	9	1	0	1	0	0	0	1	0	1	2	1	2	0	2	0	2	0	2	6	8			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr2:182396426A>G	uc002unu.3	+	24	3470	c.2707A>G	c.(2707-2709)Aat>Gat	p.N903D	ITGA4_uc002unv.3_Missense_Mutation_p.N148D	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	903					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TTTCTTGTGTAATTTTGGGAA	0.323													32	48					0	0	0.769981	0	0	G	182396426	A	G	182396426	3	3	77	1	0	0	0	0	1	0	0	0	7878	362	13	3	2805	3	ITGA4	2	182396426	Missense_Mutation	SNP	A	TCGA-DU-6405-01A-11D-1705-08	180936517	182396426	60802947	6	3298											
HSPD1	3329	broad.mit.edu	37	chr2	198353171	198353174	+	Frame_Shift_Del	DEL	TCTG	TCTG	-																															gcattaagggcatctgtaacTctgtctttcttttcattcac																										TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr2:198353171_198353174delTCTG	uc002uui.3	-	9	1394_1397	c.1257_1260delCAGA	c.(1255-1260)gacagafs	p.D419fs	HSPD1_uc010zgx.2_Frame_Shift_Del_p.D410fs|HSPD1_uc010fsm.3_Frame_Shift_Del_p.D230fs|HSPD1_uc002uuk.3_Frame_Shift_Del_p.D419fs	NM_002156	NP_955472	P10809	CH60_HUMAN	Homo sapiens heat shock 60kDa protein 1 (chaperonin) (HSPD1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	419					'de novo' protein folding|B cell cytokine production|B cell proliferation|MyD88-dependent toll-like receptor signaling pathway|T cell activation|activation of caspase activity|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|negative regulation of apoptosis|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|protein maturation|protein refolding|protein stabilization|response to unfolded protein	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|DNA replication origin binding|cell surface binding|chaperone binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			CATCTGTAACTCTGTCTTTCTTTT	0.441													57	87	---	---	---	---						-	198353174	TCTG	-	198353171	7	5	77	1	0	1	0	1	0	0	0	0	7428	1548	54	0	473	0	HSPD1	2	198353171	Frame_Shift_Del	DEL	TCTG	TCGA-DU-6405-01A-11D-1705-08	15956745	198353171	44846202	7	3299											
ALPPL2	251	broad.mit.edu	37	chr2	233273520	233273520	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgctcctgctgagcaggaaCccccgcggcttcttcctctt	4	11	9	17	2	2	1	0	1	2	0	4	2	4	2	4	2	4	4	4	2	1	3			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr2:233273520C>A	uc002vss.4	+	7	1016	c.963C>A	c.(961-963)aaC>aaA	p.N321K		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	321					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	TGAGCAGGAACCCCCGCGGCT	0.642													6	1					0.0381472	0.0386698	0.27861	1	0	A	233273520	C	A	233273520	3	1	77	1	0	0	0	0	1	0	0	0	549	506	18	5	993	5	ALPPL2	2	233273520	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	34920349	233273520	9925853	8	3300											
GIGYF2	26058	broad.mit.edu	37	chr2	233674460	233674460	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggaacgactgaccaggCagcaagaactcacagcctta	15	4	9	13	1	1	2	1	1	0	1	1	4	1	3	3	2	4	2	3	2	4	1			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr2:233674460C>T	uc002vtj.4	+	17	2167	c.1900C>T	c.(1900-1902)Cag>Tag	p.Q634*	GIGYF2_uc010zmj.1_Nonsense_Mutation_p.Q613*|GIGYF2_uc002vtg.2_Nonsense_Mutation_p.Q607*|GIGYF2_uc002vti.4_Nonsense_Mutation_p.Q613*|GIGYF2_uc002vtk.4_Nonsense_Mutation_p.Q613*|GIGYF2_uc002vth.4_Nonsense_Mutation_p.Q607*|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc010zml.1_Nonsense_Mutation_p.Q444*|GIGYF2_uc002vtq.4_5'Flank	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	613	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		ACTGACCAGGCAGCAAGAACT	0.433													16	51					0	0	0.539581	0	0	T	233674460	C	T	233674460	4	4	77	1	0	0	0	0	0	1	0	0	6378	711	25	3	1961	3	GIGYF2	2	233674460	Nonsense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	400940	233674460	9524913	9	3301											
ASB1	51665	broad.mit.edu	37	chr2	239344637	239344637	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcgtgggccgggcagacatCctgaaggccctcatcaggcc	7	5	14	15	3	2	2	2	1	0	1	3	2	3	2	4	4	0	1	4	4	1	0			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr2:239344637C>A	uc002vyg.3	+	2	563	c.477C>A	c.(475-477)atC>atA	p.I159I		NM_001040445	NP_001035535	Q9Y576	ASB1_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 1 (ASB1), mRNA.	159					intracellular signal transduction|negative regulation of cytokine biosynthetic process					breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		GGGCAGACATCCTGAAGGCCC	0.567													6	8					0.0293803	0.0301965	0.248553	1	0	A	239344637	C	A	239344637	2	1	77	1	0	0	0	0	0	0	0	1	1013	845	30	5		5	ASB1	2	239344637	Silent	SNP	C	TCGA-DU-6405-01A-11D-1705-08	5670177	239344637	3854736	10	3302											
FGD5	152273	broad.mit.edu	37	chr3	14862336	14862336	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggacaatctctctctgtcGtgtgtaattggctcctctgg	6	14	11	10	1	3	0	0	0	3	0	7	2	4	1	1	3	0	2	1	3	2	2			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr3:14862336G>A	uc003bzc.3	+	0	1868	c.1758G>A	c.(1756-1758)tcG>tcA	p.S586S	FGD5_uc011avk.2_Silent_p.S586S	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	586					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TCTCTCTGTCGTGTGTAATTG	0.557													17	24					0	0	0.539581	0	0	A	14862336	G	A	14862336	2	1	77	1	0	0	0	0	0	0	0	1	5836	1132	40	1		1	FGD5	3	14862336	Silent	SNP	G	TCGA-DU-6405-01A-11D-1705-08		14862336	183160094	11	3303											
WDR6	11180	broad.mit.edu	37	chr3	49049692	49049692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggaaggtgggcgacctgcGagtgcctgggggtcgggtgc	4	7	21	9	3	0	0	0	0	0	0	1	3	0	1	2	6	3	0	2	6	1	0			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr3:49049692G>A	uc003cvj.2	+	1	953	c.815G>A	c.(814-816)cGa>cAa	p.R272Q	WDR6_uc011bbx.1_Missense_Mutation_p.R143Q|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Missense_Mutation_p.R216Q|WDR6_uc011bbz.1_Missense_Mutation_p.R191Q	NM_018031	NP_060501	Q9NNW5	WDR6_HUMAN	Homo sapiens WD repeat domain 6 (WDR6), mRNA.	242					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GGCGACCTGCGAGTGCCTGGG	0.552													44	64					0	0	0.870114	0	0	A	49049692	G	A	49049692	3	1	77	1	0	0	0	0	1	0	0	0	17307	1058	37	2	821	2	WDR6	3	49049692	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	34187356	49049692	148972738	12	3304											
HEG1	57493	broad.mit.edu	37	chr3	124692589	124692589	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acacaccgagtagtacacatCcgtcatctggaggaggtttt	11	10	10	10	2	2	0	1	0	1	0	3	3	3	2	2	3	1	3	2	3	2	4			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr3:124692589C>A	uc011bke.2	-	16	4350	c.4282G>T	c.(4282-4284)Gat>Tat	p.D1428Y	HEG1_uc003ehr.4_Missense_Mutation_p.D182Y|HEG1_uc003ehs.4_Missense_Mutation_p.D1328Y	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.	1328						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TAGTACACATCCGTCATCTGG	0.463													14	26					0.00316338	0.00329704	0.479597	1	0	A	124692589	C	A	124692589	3	1	77	1	0	0	0	0	1	0	0	0	7044	855	30	5	171	5	HEG1	3	124692589	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	75642897	124692589	73329841	13	3305											
SI	6476	broad.mit.edu	37	chr3	164741401	164741401	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatatttcacctccacaCgaagagttgagatggggtca	11	11	11	8	1	2	3	2	2	0	2	3	5	3	3	2	2	0	1	2	2	2	3			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr3:164741401C>T	uc003fei.3	-	25	3119	c.3056G>A	c.(3055-3057)cGt>cAt	p.R1019H		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1019	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CACCTCCACACGAAGAGTTGA	0.388										HNSCC(35;0.089)			27	56					0	0	0.706142	0	0	T	164741401	C	T	164741401	3	4	77	1	0	0	0	0	1	0	0	0	14297	536	19	1	2519	1	SI	3	164741401	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	40048812	164741401	33281029	14	3306											
PIK3CA	5290	broad.mit.edu	37	chr3	178917478	178917478	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttatgtaattttattaaagGttttgctatcggcatgccag	10	18	8	5	1	0	0	0	0	0	0	1	0	0	0	1	2	2	4	1	2	6	9			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr3:178917478G>A	uc003fjk.3	+	3	510	c.353_splice	c.e3-1	p.G118_splice		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	118					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.G118D(26)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TTTATTAAAGGTTTTGCTATC	0.338		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			23	61					0	0	0.624587	0	0	A	178917478	G	A	178917478	5	1	77	1	0	0	0	0	0	0	1	0	11913	1275	44	3	359	3	PIK3CA	3	178917478	Splice_Site	SNP	G	TCGA-DU-6405-01A-11D-1705-08	14176077	178917478	19104952	15	3307											
RNF150	57484	broad.mit.edu	37	chr4	141888953	141888953	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtacattgtcacggtgaTgtttctttccagcaggctta	8	15	10	8	1	2	1	1	1	1	0	3	2	3	1	1	2	2	4	1	2	2	5			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr4:141888953T>C	uc003iio.1	-	1	1213	c.559A>G	c.(559-561)Atc>Gtc	p.I187V	RNF150_uc010iok.1_Missense_Mutation_p.I187V|RNF150_uc003iip.1_Missense_Mutation_p.I187V	NM_020724	NP_065775	Q9ULK6	RN150_HUMAN	Homo sapiens ring finger protein 150 (RNF150), mRNA.	187						integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					GTCACGGTGATGTTTCTTTCC	0.488													27	126					0	0	0.717897	0	0	C	141888953	T	C	141888953	3	2	77	1	0	0	0	0	1	0	0	0	13451	1464	51	3	781	3	RNF150	4	141888953	Missense_Mutation	SNP	T	TCGA-DU-6405-01A-11D-1705-08		141888953	49265323	16	3308											
MND1	84057	broad.mit.edu	37	chr4	154335914	154335914	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctttatagataacatattcGcaataaaatcttgggccaaa	16	13	5	7	1	2	1	0	0	2	1	3	1	2	1	1	1	1	1	1	1	8	8			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr4:154335914G>A	uc003ink.2	+	7	612	c.523G>A	c.(523-525)Gca>Aca	p.A175T	MND1_uc021xtj.1_Non-coding_Transcript|MND1_uc021xtk.1_3'UTR	NM_032117	NP_115493	Q9BWT6	MND1_HUMAN	Homo sapiens meiotic nuclear divisions 1 homolog (S. cerevisiae) (MND1), transcript variant 1, mRNA.	175					DNA recombination|meiosis	nucleus	DNA binding			large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					TAACATATTCGCAATAAAATC	0.249													14	24					0	0	0.457914	0	0	A	154335914	G	A	154335914	3	1	77	1	0	0	0	0	1	0	0	0	9675	1087	38	1	553	1	MND1	4	154335914	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	12446961	154335914	36818362	17	3309											
TRIML1	339976	broad.mit.edu	37	chr4	189068521	189068521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctcactgaacagccacGtctgaggggcgtgccctgag	7	8	13	13	2	3	3	1	3	2	0	3	3	3	3	2	2	4	1	2	2	1	0			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr4:189068521G>A	uc003izm.1	+	5	1517	c.1402G>A	c.(1402-1404)Gtc>Atc	p.V468I	TRIML1_uc003izn.1_Missense_Mutation_p.V192I	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	468	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GAACAGCCACGTCTGAGGGGC	0.542													21	29					0	0	0.740014	0	0	A	189068521	G	A	189068521	3	1	77	1	0	0	0	0	1	0	0	0	16547	1145	40	1	1424	1	TRIML1	4	189068521	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	34732607	189068521	2085755	18	3310											
ADAMTS16	170690	broad.mit.edu	37	chr5	5237184	5237184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccatgctcggaggatagccGtaatgtttgtatagatggga	10	12	13	6	2	0	1	0	0	0	1	2	4	1	4	2	3	2	4	2	3	4	5			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:5237184G>A	uc003jdl.3	+	13	2264	c.2126G>A	c.(2125-2127)cGt>cAt	p.R709H	ADAMTS16_uc003jdk.1_Missense_Mutation_p.R709H|ADAMTS16_uc010itk.1_Intron	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	709	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GAGGATAGCCGTAATGTTTGT	0.403													42	52					0	0	0.834066	0	0	A	5237184	G	A	5237184	3	1	77	1	0	0	0	0	1	0	0	0	261	1145	40	1	2180	1	ADAMTS16	5	5237184	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08		5237184	175678076	19	3311											
CDH6	1004	broad.mit.edu	37	chr5	31323148	31323148	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcccttttcctaccccgacgGactccaacagctcgcgacaa	9	7	7	18	4	0	0	0	0	0	0	3	3	2	1	5	1	3	1	5	1	3	3			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:31323148G>T	uc003jhe.2	+	11	2466	c.2106G>T	c.(2104-2106)cgG>cgT	p.R702R		NM_004932	NP_004923	P55285	CADH6_HUMAN	Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA.	702					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TACCCCGACGGACTCCAACAG	0.522													15	24					2.62699e-14	2.99072e-14	0.479597	1	0	T	31323148	G	T	31323148	2	4	77	1	0	0	0	0	0	0	0	1	3114	1161	41	5		5	CDH6	5	31323148	Silent	SNP	G	TCGA-DU-6405-01A-11D-1705-08	26085964	31323148	149592112	20	3312											
HCN1	348980	broad.mit.edu	37	chr5	45267295	45267295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacggaaagtgagtaaagaCgacaatatgtatcagctcga	16	7	10	8	3	1	2	1	1	0	1	2	5	1	3	1	1	1	3	1	1	6	3			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:45267295C>T	uc003jok.3	-	6	1704	c.1679G>A	c.(1678-1680)cGt>cAt	p.R560H		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	560						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGAGTAAAGACGACAATATGT	0.433													43	76					0	0	0.859065	0	0	T	45267295	C	T	45267295	3	4	77	1	0	0	0	0	1	0	0	0	6996	536	19	1	1001	1	HCN1	5	45267295	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	13944147	45267295	135647965	21	3313											
HSPB3	8988	broad.mit.edu	37	chr5	53751847	53751847	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactttcagatcctgctggaCgtggtccagttcctccctga	6	12	9	14	1	1	2	1	1	0	1	5	3	5	3	4	2	1	2	4	2	0	2			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:53751847C>T	uc003jph.2	+	0	417	c.228C>T	c.(226-228)gaC>gaT	p.D76D		NM_006308	NP_006299	Q12988	HSPB3_HUMAN	Homo sapiens heat shock 27kDa protein 3 (HSPB3), mRNA.	76					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus		p.D76V(1)|p.L75L(1)		breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				TCCTGCTGGACGTGGTCCAGT	0.547													22	40					0	0	0.624587	0	0	T	53751847	C	T	53751847	2	4	77	1	0	0	0	0	0	0	0	1	7421	535	19	1		1	HSPB3	5	53751847	Silent	SNP	C	TCGA-DU-6405-01A-11D-1705-08	8484552	53751847	127163413	22	3314											
GRXCR2	643226	broad.mit.edu	37	chr5	145252495	145252495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactttccggggtttgccatCactcttctgattcagctttt	5	18	7	11	1	4	1	2	1	2	0	5	1	5	1	2	2	3	2	2	2	1	7			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:145252495C>T	uc003lns.1	-	0	37	c.37G>A	c.(37-39)Gat>Aat	p.D13N		NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN	Homo sapiens glutaredoxin, cysteine rich 2 (GRXCR2), mRNA.	13										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GGTTTGCCATCACTCTTCTGA	0.507													46	74					0	0	0.870114	0	0	T	145252495	C	T	145252495	3	4	77	1	0	0	0	0	1	0	0	0	6813	826	29	3	721	3	GRXCR2	5	145252495	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	91500648	145252495	35662765	23	3315											
SGCD	6444	broad.mit.edu	37	chr5	155771587	155771587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggggatttatggctggcGgaaacgatgcctgtatttct	7	13	15	6	2	1	0	0	0	1	0	1	3	1	2	1	6	2	2	1	6	3	4			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:155771587G>A	uc003lwc.4	+	2	611	c.92G>A	c.(91-93)cGg>cAg	p.R31Q	SGCD_uc003lwa.1_Missense_Mutation_p.R31Q|SGCD_uc003lwb.3_Missense_Mutation_p.R31Q|SGCD_uc003lwd.4_Missense_Mutation_p.R30Q	NM_000337	NP_001121681	Q92629	SGCD_HUMAN	Homo sapiens sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) (SGCD), transcript variant 1, mRNA.	30					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TATGGCTGGCGGAAACGATGC	0.483													37	39					0	0	0.796494	0	0	A	155771587	G	A	155771587	3	1	77	1	0	0	0	0	1	0	0	0	14201	1116	39	2	98	2	SGCD	5	155771587	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	10519092	155771587	25143673	24	3316											
GPR110	266977	broad.mit.edu	37	chr6	46996743	46996743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcacccccaggaagccacCgtggccgtcagtgaaggtga	10	5	12	14	2	2	2	2	2	0	0	2	3	2	3	5	3	1	0	5	3	2	0			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr6:46996743C>T	uc003oyt.3	-	1	254	c.55G>A	c.(55-57)Ggt>Agt	p.G19S	GPR110_uc011dwl.2_5'UTR|GPR110_uc003oyu.1_Missense_Mutation_p.G19S	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	19					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						AGGAAGCCACCGTGGCCGTCA	0.512													18	24					0	0	0.608945	0	0	T	46996743	C	T	46996743	3	4	77	1	0	0	0	0	1	0	0	0	6627	652	23	2	2783	2	GPR110	6	46996743	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08		46996743	124118324	25	3317											
OPN5	221391	broad.mit.edu	37	chr6	47754301	47754301	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttacatgtcttctagaCgaaagaagaagctgagaccc	13	10	8	10	1	2	4	0	1	2	4	3	6	3	4	2	0	2	1	2	0	5	4			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr6:47754301C>T	uc003ozc.3	+	1	209	c.181C>T	c.(181-183)Cga>Tga	p.R61*	OPN5_uc003ozd.3_5'Flank	NM_181744	NP_859528	Q6U736	OPN5_HUMAN	Homo sapiens opsin 5 (OPN5), transcript variant 1, mRNA.	61					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						GTCTTCTAGACGAAAGAAGAA	0.378													39	32					0	0	0.834066	0	0	T	47754301	C	T	47754301	4	4	77	1	0	0	0	0	0	1	0	0	10883	528	19	1	187	1	OPN5	6	47754301	Nonsense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	757558	47754301	123360766	26	3318											
SLC35D3	340146	broad.mit.edu	37	chr6	137245387	137245387	+	Silent	SNP	G	G	T																															aagagcatcgccaccatcacGgtgggcatggtggccttcag																										TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr6:137245387G>T	uc003qhe.3	+	1	969	c.804G>T	c.(802-804)acG>acT	p.T268T		NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN	Homo sapiens solute carrier family 35, member D3 (SLC35D3), mRNA.	268					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CCACCATCACGGTGGGCATGG	0.592													21	3					1.01871e-10	1.1086e-10	0.575678	1	0	T	137245387	G	T	137245387	2	4	77	1	0	0	0	0	0	0	0	1	14583	1103	39	5		5	SLC35D3	6	137245387	Silent	SNP	G	TCGA-DU-6405-01A-11D-1705-08	89491086	137245387	33869680	27	3319	16	2									
SLC35D3	340146	broad.mit.edu	37	chr6	137245388	137245388	+	Missense_Mutation	SNP	G	G	T																															agagcatcgccaccatcacgGtgggcatggtggccttcagc																										TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr6:137245388G>T	uc003qhe.3	+	1	970	c.805G>T	c.(805-807)Gtg>Ttg	p.V269L		NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN	Homo sapiens solute carrier family 35, member D3 (SLC35D3), mRNA.	269					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CACCATCACGGTGGGCATGGT	0.592													21	3					1.01871e-10	1.1086e-10	0.575678	1	0	T	137245388	G	T	137245388	3	4	77	1	0	0	0	0	1	0	0	0	14583	1261	44	5	811	5	SLC35D3	6	137245388	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	1	137245388	33869679	28	3320	16	2									
PHTF2	57157	broad.mit.edu	37	chr7	77569563	77569564	+	Frame_Shift_Del	DEL	TC	TC	-																															taagttttgtggttcgcgtgTctcttgtgtggattttcttt																										TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr7:77569563_77569564delTC	uc003ugs.4	+	12	1810_1811	c.1684_1685delTC	c.(1684-1686)tctfs	p.S562fs	PHTF2_uc003ugp.3_Frame_Shift_Del_p.S524fs|PHTF2_uc010ldv.3_Frame_Shift_Del_p.S524fs|PHTF2_uc003ugq.4_Frame_Shift_Del_p.S524fs|PHTF2_uc003ugt.4_Frame_Shift_Del_p.S528fs|PHTF2_uc003ugu.4_Frame_Shift_Del_p.S524fs|PHTF2_uc022agp.1_Frame_Shift_Del_p.S562fs|PHTF2_uc010ldw.2_Frame_Shift_Del_p.S344fs	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	Homo sapiens putative homeodomain transcription factor 2 (PHTF2), transcript variant 1, mRNA.	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GGTTCGCGTGTCTCTTGTGTGG	0.342													47	170	---	---	---	---						-	77569564	TC	-	77569563	7	5	77	1	0	1	0	1	0	0	0	0	11863	1667	58	0	1682	0	PHTF2	7	77569563	Frame_Shift_Del	DEL	TC	TCGA-DU-6405-01A-11D-1705-08		77569563	81569100	29	3321											
ABCB1	5243	broad.mit.edu	37	chr7	87178715	87178715	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctgtgtccaaggctgaCgtggcctcatccagcaggag	7	10	12	12	1	2	1	1	1	1	0	4	2	4	2	3	3	1	2	3	3	1	1	rs56871767		TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr7:87178715C>T	uc003uiz.2	-	14	2167	c.1674G>A	c.(1672-1674)acG>acA	p.T558T	ABCB1_uc011khc.2_Silent_p.T494T	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	558	ABC transporter 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CCAAGGCTGACGTGGCCTCAT	0.537													27	50					0	0	0.706142	0	0	T	87178715	C	T	87178715	2	4	77	1	0	0	0	0	0	0	0	1	40	523	19	1		1	ABCB1	7	87178715	Silent	SNP	C	TCGA-DU-6405-01A-11D-1705-08	9609152	87178715	71959948	30	3322											
DOCK5	80005	broad.mit.edu	37	chr8	25216578	25216578	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaccagacaagacatcatcGtaagttgcctttactggtcc	13	10	7	11	1	1	2	1	0	0	2	3	2	2	2	3	1	3	2	3	1	4	4			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr8:25216578G>A	uc003xeg.3	+	28	3086	c.2949_splice	c.e28+1	p.I983_splice	DOCK5_uc010luf.1_Splice_Site|DOCK5_uc003xeh.1_Splice_Site_p.I697_splice|DOCK5_uc003xei.3_Splice_Site_p.I553_splice|DOCK5_uc003xej.3_Splice_Site	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	983						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGACATCATCGTAAGTTGCCT	0.458													56	68					0	0	0.870114	0	0	A	25216578	G	A	25216578	5	1	77	1	0	0	0	0	0	0	1	0	4690	1159	40	1	3060	1	DOCK5	8	25216578	Splice_Site	SNP	G	TCGA-DU-6405-01A-11D-1705-08		25216578	121147444	31	3323											
RIMS2	9699	broad.mit.edu	37	chr8	104898359	104898359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggtaaaatgcgccagatttCgttgagcagttcagaggagg	11	9	14	7	3	1	3	1	1	0	2	2	4	1	4	1	3	2	4	1	3	2	4			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr8:104898359C>T	uc003yls.3	+	1	1107	c.866C>T	c.(865-867)tCg>tTg	p.S289L	RIMS2_uc003ylp.3_Missense_Mutation_p.S511L|RIMS2_uc003ylw.2_Missense_Mutation_p.S319L|RIMS2_uc003ylq.3_Missense_Mutation_p.S319L|RIMS2_uc003ylr.3_Missense_Mutation_p.S319L	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	542					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.S289L(1)|p.S547L(1)|p.S319L(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CGCCAGATTTCGTTGAGCAGT	0.428										HNSCC(12;0.0054)			25	35					0	0	0.667858	0	0	T	104898359	C	T	104898359	3	4	77	1	0	0	0	0	1	0	0	0	13368	893	31	2	1672	2	RIMS2	8	104898359	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	79681781	104898359	41465663	32	3324											
TYRP1	7306	broad.mit.edu	37	chr9	12708029	12708029	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccattggaaaatgcccctAttggacataatagacaatac	15	11	6	9	0	0	1	0	0	0	1	1	3	1	3	3	2	2	0	3	2	7	7			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr9:12708029A>G	uc003zkv.4	+	6	1472	c.1294A>G	c.(1294-1296)Att>Gtt	p.I432V		NM_000550	NP_000541	P17643	TYRP1_HUMAN	Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA.	432					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		AAATGCCCCTATTGGACATAA	0.348									Oculocutaneous Albinism				13	1					0	0	0.500413	0	0	G	12708029	A	G	12708029	3	3	77	1	0	0	0	0	1	0	0	0	16813	449	16	3	1316	3	TYRP1	9	12708029	Missense_Mutation	SNP	A	TCGA-DU-6405-01A-11D-1705-08		12708029	128505402	33	3325											
ZNF484	83744	broad.mit.edu	37	chr9	95610417	95610417	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcacaagcagtcacttctgTatgagaattcaaatgagtga	14	12	8	7	0	4	3	3	3	1	1	4	4	4	3	0	0	1	2	0	0	4	4			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr9:95610417T>C	uc004asu.1	-	4	801	c.652A>G	c.(652-654)Aca>Gca	p.T218A	ANKRD19P_uc004asr.4_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.T220A|ZNF484_uc004asv.1_Missense_Mutation_p.T182A|ZNF484_uc010mrb.1_Missense_Mutation_p.T182A	NM_031486	NP_001007102	Q5JVG2	ZN484_HUMAN	Homo sapiens zinc finger protein 484 (ZNF484), transcript variant 1, mRNA.	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GTCACTTCTGTATGAGAATTC	0.353													28	84					0	0	0.706142	0	0	C	95610417	T	C	95610417	3	2	77	1	0	0	0	0	1	0	0	0	17934	1638	57	3	1910	3	ZNF484	9	95610417	Missense_Mutation	SNP	T	TCGA-DU-6405-01A-11D-1705-08	82902388	95610417	45603014	34	3326											
LPPR1	54886	broad.mit.edu	37	chr9	104086328	104086328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcactctgcgtccatgaccGaagttacctgagacgactga	11	9	9	12	3	2	3	1	3	1	1	3	6	3	3	3	0	2	1	3	0	2	1			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr9:104086328G>A	uc004bbb.3	+	7	1366	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	LPPR1_uc011lvi.2_Missense_Mutation_p.E299K|LPPR1_uc004bbc.3_Missense_Mutation_p.E323K|LPPR1_uc010mtc.3_Missense_Mutation_p.E307K	NM_207299	NP_997182	Q8TBJ4	LPPR1_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 1 (LPPR1), transcript variant 1, mRNA.	323						integral to membrane	catalytic activity										GTCCATGACCGAAGTTACCTG	0.418													15	24					0	0	0.500413	0	0	A	104086328	G	A	104086328	3	1	77	1	0	0	0	0	1	0	0	0	8924	1059	37	2	993	2	LPPR1	9	104086328	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	8475911	104086328	37127103	35	3327											
SLC46A2	57864	broad.mit.edu	37	chr9	115648895	115648895	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtatgacgaacaccttTcctgtggaagggacagaggt	11	9	13	8	1	0	2	0	1	0	1	1	5	1	4	2	3	2	2	2	3	3	2			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr9:115648895T>G	uc004bgk.3	-	3	1446	c.1214_splice	c.e3-1	p.G405_splice		NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN	Homo sapiens solute carrier family 46, member 2 (SLC46A2), mRNA.	405						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						CGAACACCTTTCCTGTGGAAG	0.542													20	37					0	0	0.575678	0	0	G	115648895	T	G	115648895	5	3	77	1	0	0	0	0	0	0	1	0	14645	1797	62	5	220	5	SLC46A2	9	115648895	Splice_Site	SNP	T	TCGA-DU-6405-01A-11D-1705-08	11562567	115648895	25564536	36	3328											
HBE1	3046	broad.mit.edu	37	chr11	5291062	5291062	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacctccagcctcttccacaTtcatcttgctccacaggcta	8	11	4	18	0	3	0	1	0	2	0	6	0	6	0	5	1	2	2	5	1	1	4			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr11:5291062T>C	uc001mal.1	-	0	325	c.59A>G	c.(58-60)aAt>aGt	p.N20S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Missense_Mutation_p.N20S	NM_005330	NP_005321	P02100	HBE_HUMAN	Homo sapiens hemoglobin, epsilon 1 (HBE1), mRNA.	20					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCTTCCACATTCATCTTGCT	0.507													16	21					0	0	0.557998	0	0	C	5291062	T	C	5291062	3	2	77	1	0	0	0	0	1	0	0	0	6980	1493	52	3	396	3	HBE1	11	5291062	Missense_Mutation	SNP	T	TCGA-DU-6405-01A-11D-1705-08		5291062	129715454	37	3329											
TSPAN18	90139	broad.mit.edu	37	chr11	44948236	44948236	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctcccagggctgttacacGgtgatcctcaacaccttcga	8	9	8	16	2	1	1	1	1	0	0	4	2	3	1	4	2	2	2	4	2	2	2	rs149091051	byFrequency	TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr11:44948236G>C	uc001myg.3	+	5	637	c.627G>C	c.(625-627)acG>acC	p.T209T	TSPAN18_uc001mye.4_Silent_p.T209T|TP53I11_uc001myf.1_Intron	NM_130783	NP_570139	Q96SJ8	TSN18_HUMAN	Homo sapiens tetraspanin 18 (TSPAN18), mRNA.	209						integral to membrane				endometrium(1)|large_intestine(6)|lung(3)	10						GCTGTTACACGGTGATCCTCA	0.587											OREG0020922	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	62	95					0	0	0.870114	0	0	C	44948236	G	C	44948236	2	2	77	1	0	0	0	0	0	0	0	1	16639	1103	39	5		5	TSPAN18	11	44948236	Silent	SNP	G	TCGA-DU-6405-01A-11D-1705-08	39657174	44948236	90058280	38	3330											
OR5D14	219436	broad.mit.edu	37	chr11	55563460	55563461	+	Frame_Shift_Ins	INS	-	-	G																															ccatgtcacagaggctctgtINSgccctgctggtggctgggtc																										TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr11:55563460_55563461insG	uc010rim.2	+	0	429_430	c.429_430insG	c.(427-432)tgtgccfs	p.C143fs		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				AGAGGCTCTGTGCCCTGCTGGT	0.51													48	55	---	---	---	---						G	55563461	-	G	55563460	7	5	77	1	0	1	1	0	0	0	0	0	11155	1702	59	0	431	0	OR5D14	11	55563460	Frame_Shift_Ins	INS	-	TCGA-DU-6405-01A-11D-1705-08	10615224	55563460	79443056	39	3331											
P2RY2	5029	broad.mit.edu	37	chr11	72945405	72945405	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctcaagacctggaatgcGtccaccacatatatgttcca	11	9	7	14	2	1	1	1	0	0	1	3	2	3	2	5	1	1	1	5	1	4	3			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr11:72945405G>A	uc021qna.1	+	0	201	c.201G>A	c.(199-201)gcG>gcA	p.A67A	P2RY2_uc001otk.3_Silent_p.A67A|P2RY2_uc001otj.3_Silent_p.A67A|P2RY2_uc001otl.3_Silent_p.A67A	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	67					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CCTGGAATGCGTCCACCACAT	0.612													18	37					0	0	0.539581	0	0	A	72945405	G	A	72945405	2	1	77	1	0	0	0	0	0	0	0	1	11352	1132	40	1		1	P2RY2	11	72945405	Silent	SNP	G	TCGA-DU-6405-01A-11D-1705-08	17381945	72945405	62061111	40	3332											
DYNC2H1	79659	broad.mit.edu	37	chr11	102984404	102984404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttagttctctttaccaagcaGtacggcaagtattcgcacca	11	12	7	11	2	1	0	0	0	1	0	3	0	1	0	2	1	3	6	2	1	6	7			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr11:102984404G>A	uc001phn.1	+	1	478	c.334G>A	c.(334-336)Gta>Ata	p.V112I	DYNC2H1_uc009yxe.1_Missense_Mutation_p.V112I|DYNC2H1_uc001pho.2_Missense_Mutation_p.V112I	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	112	Stem (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTACCAAGCAGTACGGCAAGT	0.328													20	37					0	0	0.624587	0	0	A	102984404	G	A	102984404	3	1	77	1	0	0	0	0	1	0	0	0	4846	1029	36	3	340	3	DYNC2H1	11	102984404	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	30038999	102984404	32022112	41	3333											
PDZD3	79849	broad.mit.edu	37	chr11	119059739	119059739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaggaggctcagctgcccGggctgggctgcaagtgggag	6	6	18	11	1	1	0	1	0	0	0	2	2	2	2	2	5	3	5	2	5	1	0			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr11:119059739G>A	uc001pwb.3	+	7	2035	c.1511G>A	c.(1510-1512)cGg>cAg	p.R504Q	PDZD3_uc001pvz.3_Missense_Mutation_p.R438Q|PDZD3_uc010rzd.2_Missense_Mutation_p.R425Q|PDZD3_uc001pvy.3_Missense_Mutation_p.R424Q|PDZD3_uc001pwa.3_Missense_Mutation_p.R134Q			Q86UT5	NHRF4_HUMAN	Homo sapiens PDZ domain containing 3 (PDZD3), transcript variant 3, non-coding RNA.	504	PDZ 4.				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		TCAGCTGCCCGGGCTGGGCTG	0.607													43	57					0	0	0.870114	0	0	A	119059739	G	A	119059739	3	1	77	1	0	0	0	0	1	0	0	0	11702	1116	39	2	1351	2	PDZD3	11	119059739	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	16075335	119059739	15946777	42	3334											
SP7	121340	broad.mit.edu	37	chr12	53722415	53722415	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcctggcaattagggcagtCgcaggaggagcgccctgccc	7	6	14	14	2	0	0	0	0	0	0	2	2	1	2	3	4	2	3	3	4	2	1			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr12:53722415C>T	uc001sct.3	-	1	918	c.811G>A	c.(811-813)Gac>Aac	p.D271N	SP7_uc001scv.3_Missense_Mutation_p.D271N|SP7_uc001scu.3_Missense_Mutation_p.D253N	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	Homo sapiens Sp7 transcription factor (SP7), transcript variant 2, mRNA.	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						TTAGGGCAGTCGCAGGAGGAG	0.662													13	13					0	0	0.435327	0	0	T	53722415	C	T	53722415	3	4	77	1	0	0	0	0	1	0	0	0	14969	884	31	2	488	2	SP7	12	53722415	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08		53722415	80129480	43	3335											
ATXN2	6311	broad.mit.edu	37	chr12	111908030	111908030	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaccctgtattacaggactAtagacatgaggatgctgtgt	11	13	10	7	0	0	2	0	1	0	1	0	4	0	4	1	2	3	2	1	2	5	5			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr12:111908030A>G	uc001tsj.3	-	19	3360	c.3198T>C	c.(3196-3198)taT>taC	p.Y1066Y	ATXN2_uc001tsh.3_Silent_p.Y801Y|ATXN2_uc001tsi.3_Silent_p.Y777Y|ATXN2_uc001tsk.3_Non-coding_Transcript|ATXN2_uc001tsl.1_Silent_p.Y85Y	NM_002973	NP_002964	Q99700	ATX2_HUMAN	Homo sapiens ataxin 2 (ATXN2), mRNA.	1066	Pro-rich.				RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	RNA binding|protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TTACAGGACTATAGACATGAG	0.418													33	52					0	0	0.788014	0	0	G	111908030	A	G	111908030	2	3	77	1	0	0	0	0	0	0	0	1	1211	456	16	3		3	ATXN2	12	111908030	Silent	SNP	A	TCGA-DU-6405-01A-11D-1705-08	58185615	111908030	21943865	44	3336											
SYT16	83851	broad.mit.edu	37	chr14	62547859	62547859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtggctgcctgtgctgtccGcttccgcctgtacgctgccc	1	12	12	16	3	0	0	0	0	0	0	2	0	2	0	5	1	4	5	5	1	1	2			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr14:62547859G>A	uc001xfu.1	+	3	1498	c.1301G>A	c.(1300-1302)cGc>cAc	p.R434H	SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	434	C2 1.									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)		TGTGCTGTCCGCTTCCGCCTG	0.572													13	18					0	0	0.479597	0	0	A	62547859	G	A	62547859	3	1	77	1	0	0	0	0	1	0	0	0	15469	1087	38	1	1315	1	SYT16	14	62547859	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08		62547859	44801681	45	3337											
SYT16	83851	broad.mit.edu	37	chr14	62567163	62567163	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgggtcaagagatgtcccGttgcaagacgtccattcggc	8	10	13	10	3	1	2	1	0	0	2	4	3	3	2	2	2	1	2	2	2	2	2			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr14:62567163G>A	uc001xfu.1	+	5	1873	c.1676G>A	c.(1675-1677)cGt>cAt	p.R559H	SYT16_uc010tse.1_Missense_Mutation_p.R117H	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	559	C2 2.							p.V558A(1)		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)		GAGATGTCCCGTTGCAAGACG	0.458													11	16					0	0	0.411799	0	0	A	62567163	G	A	62567163	3	1	77	1	0	0	0	0	1	0	0	0	15469	1145	40	1	1698	1	SYT16	14	62567163	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	19304	62567163	44782377	46	3338											
AHNAK2	113146	broad.mit.edu	37	chr14	105420969	105420969	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtgacctctggggtccCggcccccgcttgctctttat	2	13	11	15	2	2	1	0	1	2	0	3	1	3	1	4	3	1	2	4	3	1	3			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr14:105420969C>T	uc010axc.1	-	6	939	c.819G>A	c.(817-819)ccG>ccA	p.P273P	AHNAK2_uc021seo.1_5'Flank|AHNAK2_uc001ypx.2_Silent_p.P173P	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	273						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTGGGGTCCCGGCCCCCGCT	0.592													9	9					0	0	0.307466	0	0	T	105420969	C	T	105420969	2	4	77	1	0	0	0	0	0	0	0	1	415	639	23	2		2	AHNAK2	14	105420969	Silent	SNP	C	TCGA-DU-6405-01A-11D-1705-08	42853806	105420969	1928571	47	3339											
CREBBP	1387	broad.mit.edu	37	chr16	3781317	3781317	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagcgtggaccacttggagCggcgcaaggaggagaactcc	11	4	16	10	3	0	2	0	0	0	2	1	6	1	5	2	5	3	1	2	5	2	1			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr16:3781317C>G	uc002cvv.3	-	29	5252	c.5048G>C	c.(5047-5049)cGc>cCc	p.R1683P	CREBBP_uc002cvw.3_Missense_Mutation_p.R1645P	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1683	Interaction with TRERF1.				N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.R1683H(2)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCACTTGGAGCGGCGCAAGGA	0.642			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						13	7					0	0	0.435327	0	0	G	3781317	C	G	3781317	3	3	77	1	0	0	0	0	1	0	0	0	3861	768	27	5	2288	5	CREBBP	16	3781317	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08		3781317	86573436	48	3340											
ZNF624	57547	broad.mit.edu	37	chr17	16527452	16527452	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctttgctgcctttcatctCcttgcaaattatcttcccca	6	16	5	14	0	3	0	1	0	2	0	5	0	4	0	4	1	3	3	4	1	2	5			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr17:16527452C>A	uc010cpi.2	-	5	840	c.748G>T	c.(748-750)Gag>Tag	p.E250*	ZNF624_uc021tre.1_Nonsense_Mutation_p.E124*	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	Homo sapiens zinc finger protein 624 (ZNF624), mRNA.	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCTTTCATCTCCTTGCAAATT	0.373													67	74					2.165e-29	2.54302e-29	0.870114	1	0	A	16527452	C	A	16527452	4	1	77	1	0	0	0	0	0	1	0	0	18045	864	30	5	1853	5	ZNF624	17	16527452	Nonsense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08		16527452	64667758	49	3341											
KRT39	390792	broad.mit.edu	37	chr17	39122910	39122910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattaggtagatgggcttgcGacaaaagcgaggagtgggtt	11	9	16	5	2	0	1	0	0	0	1	0	4	0	2	0	4	2	3	0	4	4	4			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr17:39122910G>A	uc002hvo.1	-	0	235	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	KRT39_uc010wfm.1_5'UTR	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	Homo sapiens keratin 39 (KRT39), mRNA.	67	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				ATGGGCTTGCGACAAAAGCGA	0.517													81	111					0	0	0.870114	0	0	A	39122910	G	A	39122910	3	1	77	1	0	0	0	0	1	0	0	0	8476	1058	37	2	1304	2	KRT39	17	39122910	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	22595458	39122910	42072300	50	3342											
TYK2	7297	broad.mit.edu	37	chr19	10465220	10465220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcggatctttttcaaatagcGcttgtggaaaaccgtagggt	10	13	11	7	3	2	0	1	0	1	0	3	2	2	2	1	3	2	2	1	3	5	5			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr19:10465220G>A	uc002moc.4	-	18	3061	c.2683C>T	c.(2683-2685)Cgc>Tgc	p.R895C	TYK2_uc010dxe.3_Missense_Mutation_p.R710C	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	895					intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TTCAAATAGCGCTTGTGGAAA	0.577													17	50					0	0	0.520397	0	0	A	10465220	G	A	10465220	3	1	77	1	0	0	0	0	1	0	0	0	16807	1087	38	1	908	1	TYK2	19	10465220	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08		10465220	48663763	51	3343											
PSMC4	5704	broad.mit.edu	37	chr19	40480518	40480518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtggagctcccgctcaCgcatttcgagctctacaagc	7	8	11	15	4	2	0	1	0	1	0	4	2	3	1	2	2	4	4	2	2	2	2			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr19:40480518C>T	uc002omq.3	+	4	594	c.557C>T	c.(556-558)aCg>aTg	p.T186M	PSMC4_uc002omr.3_Missense_Mutation_p.T155M	NM_006503	NP_006494	P43686	PRS6B_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 4 (PSMC4), transcript variant 1, mRNA.	186					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTCCCGCTCACGCATTTCGAG	0.627													6	45					0	0	0.27861	0	0	T	40480518	C	T	40480518	3	4	77	1	0	0	0	0	1	0	0	0	12689	536	19	1	575	1	PSMC4	19	40480518	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	30015298	40480518	18648465	52	3344											
FBXO46	23403	broad.mit.edu	37	chr19	46216180	46216180	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgctggggtggtcggtcGtgggtagctctgcagggcca	4	8	20	9	3	1	0	0	0	1	0	3	0	1	0	1	7	2	4	1	7	1	1			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr19:46216180G>A	uc002pcz.3	-	1	697	c.574C>T	c.(574-576)Cga>Tga	p.R192*	FBXO46_uc002pcy.3_Nonsense_Mutation_p.R192*|FBXO46_uc021uvz.1_Nonsense_Mutation_p.R192*	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	Homo sapiens F-box protein 46 (FBXO46), mRNA.	192							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GTGGTCGGTCGTGGGTAGCTC	0.697													7	9					0	0	0.248553	0	0	A	46216180	G	A	46216180	4	1	77	1	0	0	0	0	0	1	0	0	5755	1153	40	1	1241	1	FBXO46	19	46216180	Nonsense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	5735662	46216180	12912803	53	3345											
KLK6	5653	broad.mit.edu	37	chr19	51466622	51466622	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggctgagcagtccctctcCaggggaaggggctggatgag	7	8	17	9	0	1	2	0	2	1	0	3	4	2	4	2	6	1	3	2	6	1	1			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr19:51466622C>T	uc002puh.3	-	2	473	c.408G>A	c.(406-408)ctG>ctA	p.L136L	KLK6_uc010eoj.3_Intron|KLK6_uc002pui.3_Silent_p.L127L|KLK6_uc002puj.3_Silent_p.L20L|KLK6_uc010ycn.2_Silent_p.L20L|KLK6_uc002pul.3_Silent_p.L127L|KLK6_uc002pum.3_Silent_p.L20L	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN	Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.	127	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		AGTCCCTCTCCAGGGGAAGGG	0.617													10	19					0	0	0.361761	0	0	T	51466622	C	T	51466622	2	4	77	1	0	0	0	0	0	0	0	1	8408	581	21	3		3	KLK6	19	51466622	Silent	SNP	C	TCGA-DU-6405-01A-11D-1705-08	5250442	51466622	7662361	54	3346											
SLC17A9	63910	broad.mit.edu	37	chr20	61594706	61594706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctggagacggctcttccGgaagcctgctgtctggtgag	5	9	14	13	2	2	2	0	1	2	1	3	4	3	3	4	4	2	2	4	4	1	1			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr20:61594706G>A	uc002yea.4	+	5	894	c.710G>A	c.(709-711)cGg>cAg	p.R237Q	SLC17A9_uc002ydz.4_Missense_Mutation_p.R231Q|SLC17A9_uc011aap.1_Missense_Mutation_p.R257Q	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.	237					exocytosis|transmembrane transport	integral to membrane	transporter activity	p.R237W(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CGGCTCTTCCGGAAGCCTGCT	0.657													6	11					0	0	0.217242	0	0	A	61594706	G	A	61594706	3	1	77	1	0	0	0	0	1	0	0	0	14424	1116	39	2	732	2	SLC17A9	20	61594706	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08		61594706	1430814	55	3347											
TPTE	7179	broad.mit.edu	37	chr21	10920147	10920147	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatctgttcgcctttctccAaaataatacaggctttccta	10	16	4	11	1	2	0	0	0	2	0	5	0	3	0	3	1	1	2	3	1	6	7			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr21:10920147A>T	uc002yip.1	-	18	1475	c.1107T>A	c.(1105-1107)ttT>ttA	p.F369L	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.F351L|TPTE_uc002yir.1_Missense_Mutation_p.F331L|TPTE_uc010gkv.1_Missense_Mutation_p.F231L	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	369	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCCTTTCTCCAAAATAATACA	0.383													18	95					0	0	0.639603	0	0	T	10920147	A	T	10920147	3	4	77	1	0	0	0	0	1	0	0	0	16427	127	5	5	572	5	TPTE	21	10920147	Missense_Mutation	SNP	A	TCGA-DU-6405-01A-11D-1705-08		10920147	37209748	56	3348											
ZNF280B	140883	broad.mit.edu	37	chr22	22842418	22842418	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgaaaattttgagacaaaAgggacaaagcaaattctttg	17	12	8	4	0	1	2	0	2	1	1	1	4	1	3	0	1	1	1	0	1	6	5			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr22:22842418A>G	uc002zwc.1	-	3	2082	c.1306T>C	c.(1306-1308)Ttt>Ctt	p.F436L	abParts_uc021wml.1_Splice_Site|abParts_uc021wmm.1_Intron|ZNF280B_uc021wmn.1_Missense_Mutation_p.F436L	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN	Homo sapiens zinc finger protein 280B (ZNF280B), mRNA.	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTGAGACAAAAGGGACAAAGC	0.428													4	174					0	0	0.150653	0	0	G	22842418	A	G	22842418	3	3	77	1	0	0	0	0	1	0	0	0	17812	72	3	4	329	4	ZNF280B	22	22842418	Missense_Mutation	SNP	A	TCGA-DU-6405-01A-11D-1705-08		22842418	28462148	57	3349											
RIBC2	26150	broad.mit.edu	37	chr22	45821982	45821982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaccgcgtggtccctgaccGctggaagggcatgacccagg	7	5	14	15	3	0	2	0	2	0	0	1	3	1	3	5	4	0	2	5	4	1	0	rs149130910	byFrequency	TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr22:45821982G>A	uc011aqs.2	+	5	1021	c.812G>A	c.(811-813)cGc>cAc	p.R271H		NM_015653	NP_056468	Q9H4K1	RIBC2_HUMAN	Homo sapiens RIB43A domain with coiled-coils 2 (RIBC2), mRNA.	204										NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GTCCCTGACCGCTGGAAGGGC	0.642													6	12					0	0	0.217242	0	0	A	45821982	G	A	45821982	3	1	77	1	0	0	0	0	1	0	0	0	13353	1087	38	1	832	1	RIBC2	22	45821982	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	22979564	45821982	5482584	58	3350											
SCML2	10389	broad.mit.edu	37	chrX	18259468	18259469	+	Frame_Shift_Del	DEL	TT	TT	-																															acttcatcatcacatcactcTtgagtaggaacagagccttc																										TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chrX:18259468_18259469delTT	uc004cyl.2	-	14	2162_2163	c.2005_2006delAA	c.(2005-2007)aagfs	p.K669fs	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_3'UTR|SCML2_uc011miz.1_3'UTR|SCML2_uc010nfc.2_3'UTR	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	669	SAM.				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CACATCACTCTTGAGTAGGAAC	0.342													79	116	---	---	---	---						-	18259469	TT	-	18259468	7	5	77	1	0	1	0	1	0	0	0	0	13910	1609	56	0	100	0	SCML2	23	18259468	Frame_Shift_Del	DEL	TT	TCGA-DU-6405-01A-11D-1705-08		18259468	137011092	59	3351											
PLP1	5354	broad.mit.edu	37	chrX	103043374	103043374	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtcttacttaggtgttctcCcatggaatgctttccctggc	5	16	9	11	0	2	0	0	0	2	0	4	1	3	1	2	3	2	2	2	3	3	4			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chrX:103043374C>T	uc010nov.3	+	5	911	c.631C>T	c.(631-633)Cca>Tca	p.P211S	RAB9B_uc004eli.2_Intron|PLP1_uc004elk.3_Missense_Mutation_p.P211S|PLP1_uc004elj.3_Missense_Mutation_p.P176S|PLP1_uc011msf.2_Missense_Mutation_p.P156S|PLP1_uc010nox.3_Missense_Mutation_p.P165S	NM_001128834	NP_001122306	P60201	MYPR_HUMAN	Homo sapiens proteolipid protein 1 (PLP1), transcript variant 3, mRNA.	211			P -> L (in HLD1).		cell death|synaptic transmission	integral to membrane		p.P211P(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						AGGTGTTCTCCCATGGAATGC	0.478													134	186					0	0	0.870114	0	0	T	103043374	C	T	103043374	3	4	77	1	0	0	0	0	1	0	0	0	12104	623	22	3	649	3	PLP1	23	103043374	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	84783906	103043374	52227186	60	3352											
GUCY2F	2986	broad.mit.edu	37	chrX	108719025	108719025	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaggggagtgtccacacCtgctgcggaagggacatgac	9	8	15	9	1	0	1	0	1	0	0	1	4	1	4	2	4	2	2	2	4	2	2			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chrX:108719025C>A	uc022cch.1	-	0	226	c.141G>T	c.(139-141)caG>caT	p.Q47H	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.Q47H	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	47					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GTGTCCACACCTGCTGCGGAA	0.567											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	48					1.62565e-12	1.8227e-12	0.760397	1	0	A	108719025	C	A	108719025	3	1	77	1	0	0	0	0	1	0	0	0	6898	680	24	5	3257	5	GUCY2F	23	108719025	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	5675651	108719025	46551535	61	3353											
MAGEA6	4105	broad.mit.edu	37	chrX	151870194	151870194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccatatggtaaagatcagtgGaggacctcgcatttcctacc	11	10	9	11	1	1	1	1	0	0	1	3	3	2	3	4	3	1	2	4	3	4	4			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chrX:151870194G>A	uc022chf.1	+	0	884	c.884G>A	c.(883-885)gGa>gAa	p.G295E	MAGEA6_uc004ffq.1_Missense_Mutation_p.G295E|MAGEA6_uc004ffr.1_Missense_Mutation_p.G295E	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	295	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AAGATCAGTGGAGGACCTCGC	0.567													72	99					0	0	0.870114	0	0	A	151870194	G	A	151870194	3	1	77	1	0	0	0	0	1	0	0	0	9170	1174	41	3	886	3	MAGEA6	23	151870194	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	43151169	151870194	3400366	62	3354											
HSPG2	3339	broad.mit.edu	37	chr1	22174482	22174482	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgctgccctggatggtgacGatgagcgaggtctcccggga	6	7	16	12	4	1	2	0	2	1	0	2	6	1	4	3	4	2	1	3	4	0	0			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:22174482G>A	uc009vqd.3	-	59	7885	c.7845C>T	c.(7843-7845)atC>atT	p.I2615I	HSPG2_uc001bfj.3_Silent_p.I2614I	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	2614	Ig-like C2-type 11.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGATGGTGACGATGAGCGAGG	0.662													6	40					0	0	1	0	0	A	22174482	G	A	22174482	2	1	78	1	0	0	0	0	0	0	0	1	7430	1048	37	2		2	HSPG2	1	22174482	Silent	SNP	G	TCGA-DU-6407-01A-13D-1705-08		22174482	227076139	1	3355											
ARHGAP25	9938	broad.mit.edu	37	chr2	69002506	69002506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtactttgtgctgagggCgcagcagctctactactaca	9	10	12	10	1	1	1	0	1	1	0	1	2	1	1	0	2	7	5	0	2	4	5			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:69002506C>T	uc010fdg.3	+	1	634	c.215C>T	c.(214-216)gCg>gTg	p.A72V	ARHGAP25_uc010yqk.2_Missense_Mutation_p.A46V|ARHGAP25_uc010yql.2_Missense_Mutation_p.A72V|ARHGAP25_uc002sev.3_Missense_Mutation_p.A65V|ARHGAP25_uc002sew.3_Missense_Mutation_p.A65V|ARHGAP25_uc002sex.3_Missense_Mutation_p.A65V|ARHGAP25_uc010fdh.1_Intron	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	72	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GTGCTGAGGGCGCAGCAGCTC	0.592													4	92					0	0	1	0	0	T	69002506	C	T	69002506	3	4	78	1	0	0	0	0	1	0	0	0	874	768	27	1	261	1	ARHGAP25	2	69002506	Missense_Mutation	SNP	C	TCGA-DU-6407-01A-13D-1705-08		69002506	174196867	2	3356											
CYP26B1	56603	broad.mit.edu	37	chr2	72359586	72359586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggcaggtccggacacCgccaccgaacgggaggtaat	10	3	14	14	4	0	0	0	0	0	0	1	3	1	2	5	5	1	2	5	5	2	1			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:72359586C>T	uc002sih.1	-	5	1309	c.1309G>A	c.(1309-1311)Ggt>Agt	p.G437S	CYP26B1_uc010yra.1_Missense_Mutation_p.G420S|CYP26B1_uc010yrb.1_Missense_Mutation_p.G362S	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily B, polypeptide 1 (CYP26B1), mRNA.	437					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GTCCGGACACCGCCACCGAAC	0.647													16	15					0	0	1	0	0	T	72359586	C	T	72359586	3	4	78	1	0	0	0	0	1	0	0	0	4156	652	23	2	233	2	CYP26B1	2	72359586	Missense_Mutation	SNP	C	TCGA-DU-6407-01A-13D-1705-08	3357080	72359586	170839787	3	3357											
SCN1A	6323	broad.mit.edu	37	chr2	166872165	166872165	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtttcttcaggttccactaCgggctgttcttctacaggtg	6	15	10	10	1	4	0	1	0	3	0	5	0	5	0	1	3	2	4	1	3	2	7	rs146374754		TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:166872165C>T	uc002udo.4	-	18	3729	c.3502G>A	c.(3502-3504)Gta>Ata	p.V1168I	SCN1A_uc010fpk.3_Missense_Mutation_p.V1140I|SCN1A_uc021vsb.1_Missense_Mutation_p.V1157I	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1168						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGTTCCACTACGGGCTGTTCT	0.413													47	78					0	0	1	0	0	T	166872165	C	T	166872165	3	4	78	1	0	0	0	0	1	0	0	0	13914	536	19	1	2567	1	SCN1A	2	166872165	Missense_Mutation	SNP	C	TCGA-DU-6407-01A-13D-1705-08	94512579	166872165	76327208	4	3358											
PDK1	5163	broad.mit.edu	37	chr2	173423525	173423525	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atataatgaaagaaataagtCtccttccagataatcttctc	16	13	4	8	0	3	3	0	1	3	2	6	3	4	3	2	0	0	0	2	0	6	6			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:173423525C>G	uc002uhs.3	+	1	386	c.286C>G	c.(286-288)Ctc>Gtc	p.L96V	PDK1_uc010zdz.1_5'UTR|PDK1_uc010zea.1_Non-coding_Transcript|PDK1_uc002uhq.1_Missense_Mutation_p.L96V|PDK1_uc010zeb.2_Missense_Mutation_p.L96V	NM_002610	NP_002601	Q15118	PDK1_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 1 (PDK1), nuclear gene encoding mitochondrial protein, mRNA.	96					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			AGAAATAAGTCTCCTTCCAGA	0.393									Autosomal Dominant Polycystic Kidney Disease				32	41					0	0	1	0	0	G	173423525	C	G	173423525	3	3	78	1	0	0	0	0	1	0	0	0	11675	913	32	5	292	5	PDK1	2	173423525	Missense_Mutation	SNP	C	TCGA-DU-6407-01A-13D-1705-08	6551360	173423525	69775848	5	3359											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								24	34					0	0	1	0	0	T	209113112	C	T	209113112	3	4	78	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-6407-01A-13D-1705-08	35689587	209113112	34086261	6	3360											
KIF1A	547	broad.mit.edu	37	chr2	241702180	241702180	+	Frame_Shift_Del	DEL	T	T	-																															cctcgttcacctccgggtagTacctggagtccatctgcttc																										TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:241702180delT	uc010fzk.3	-	22	2319	c.2072delA	c.(2071-2073)tacfs	p.Y691fs	KIF1A_uc002vzy.3_Frame_Shift_Del_p.Y682fs|KIF1A_uc002vzz.2_Frame_Shift_Del_p.Y691fs	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	682					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTCCGGGTAGTACCTGGAGTC	0.617													2	4	---	---	---	---						-	241702180	T	-	241702180	7	5	78	1	0	1	0	1	0	0	0	0	8283	1638	57	0	3131	0	KIF1A	2	241702180	Frame_Shift_Del	DEL	T	TCGA-DU-6407-01A-13D-1705-08	32589068	241702180	1497193	7	3361											
LMCD1	29995	broad.mit.edu	37	chr3	8590439	8590439	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgtcaagcaatataagagCgaggccctcggcgtgggaga	11	8	14	8	3	1	2	1	0	0	2	2	4	1	2	1	3	2	1	1	3	4	3			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:8590439C>T	uc003bqq.3	+	3	687	c.573C>T	c.(571-573)agC>agT	p.S191S	LMCD1_uc011atd.2_Silent_p.S118S|LMCD1_uc011ate.2_Silent_p.S79S|LMCD1_uc011atf.1_Silent_p.S118S	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	Homo sapiens LIM and cysteine-rich domains 1 (LMCD1), mRNA.	191	PET.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AATATAAGAGCGAGGCCCTCG	0.587													32	66					0	0	1	0	0	T	8590439	C	T	8590439	2	4	78	1	0	0	0	0	0	0	0	1	8844	767	27	1		1	LMCD1	3	8590439	Silent	SNP	C	TCGA-DU-6407-01A-13D-1705-08		8590439	189431991	8	3362											
FAM134B	54463	broad.mit.edu	37	chr5	16475174	16475174	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgagaccagctgctgattgCgtctctttgcttggtctgtg	4	15	13	9	1	2	2	0	2	2	1	3	3	2	2	1	1	4	3	1	1	0	3			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:16475174C>T	uc003jfs.3	-	8	1257	c.1170G>A	c.(1168-1170)acG>acA	p.T390T	FAM134B_uc003jfr.3_Silent_p.T249T	NM_001034850	NP_001030022	Q9H6L5	F134B_HUMAN	Homo sapiens family with sequence similarity 134, member B (FAM134B), transcript variant 1, mRNA.	390					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						CTGCTGATTGCGTCTCTTTGC	0.493													37	48					0	0	1	0	0	T	16475174	C	T	16475174	2	4	78	1	0	0	0	0	0	0	0	1	5446	755	27	1		1	FAM134B	5	16475174	Silent	SNP	C	TCGA-DU-6407-01A-13D-1705-08		16475174	164440086	9	3363											
IGF2R	3482	broad.mit.edu	37	chr6	160501242	160501242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcatcatagagagcagggCgaagctgtggtgtagcacaa	12	7	15	7	1	1	1	1	0	0	1	1	3	1	1	0	2	4	5	0	2	4	2			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:160501242C>T	uc003qta.3	+	38	5916	c.5768C>T	c.(5767-5769)gCg>gTg	p.A1923V		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	1923	Fibronectin type-II.				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GAGAGCAGGGCGAAGCTGTGG	0.557													45	49					0	0	1	0	0	T	160501242	C	T	160501242	3	4	78	1	0	0	0	0	1	0	0	0	7576	768	27	1	5922	1	IGF2R	6	160501242	Missense_Mutation	SNP	C	TCGA-DU-6407-01A-13D-1705-08		160501242	10613825	10	3364											
GATA3	2625	broad.mit.edu	37	chr10	8100437	8100437	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtctaccccccggcctcGtcctcctccttgtcgggggg	1	10	11	19	4	1	0	0	0	1	0	7	0	5	0	8	4	1	0	8	4	1	2			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:8100437G>A	uc001ijz.3	+	2	968	c.411G>A	c.(409-411)tcG>tcA	p.S137S	GATA3_uc001ika.3_Silent_p.S137S	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1, mRNA.	137	Poly-Ser.				T cell receptor signaling pathway|TOR signaling cascade|aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of T cell differentiation|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CCCCGGCCTCGTCCTCCTCCT	0.716			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"						31	37					0	0	1	0	0	A	8100437	G	A	8100437	2	1	78	1	0	0	0	0	0	0	0	1	6255	1132	40	1		1	GATA3	10	8100437	Silent	SNP	G	TCGA-DU-6407-01A-13D-1705-08		8100437	127434310	11	3365											
CAMK1D	57118	broad.mit.edu	37	chr10	12803041	12803041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgccaagtcttggacgccGtgtactatctccacagaatg	9	10	9	13	3	2	1	0	0	2	1	4	2	3	2	4	1	1	1	4	1	4	3			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:12803041G>A	uc001ilo.3	+	3	629	c.394G>A	c.(394-396)Gtg>Atg	p.V132M	CAMK1D_uc001iln.3_Missense_Mutation_p.V132M	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA.	132	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		CTTGGACGCCGTGTACTATCT	0.577													12	21					0	0	1	0	0	A	12803041	G	A	12803041	3	1	78	1	0	0	0	0	1	0	0	0	2597	1145	40	1	408	1	CAMK1D	10	12803041	Missense_Mutation	SNP	G	TCGA-DU-6407-01A-13D-1705-08	4702604	12803041	122731706	12	3366											
MYO3A	53904	broad.mit.edu	37	chr10	26359114	26359114	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatggctgacttaggataTcaatctatgataacatataa	16	12	7	6	0	2	2	1	2	1	0	2	3	2	3	0	2	1	2	0	2	8	6			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:26359114T>C	uc001isn.2	+	12	1605	c.1245T>C	c.(1243-1245)taT>taC	p.Y415Y	MYO3A_uc009xko.1_Silent_p.Y415Y|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Silent_p.Y415Y	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	415	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ACTTAGGATATCAATCTATGA	0.318													4	65					0	0	1	0	0	C	26359114	T	C	26359114	2	2	78	1	0	0	0	0	0	0	0	1	10076	1442	50	3		3	MYO3A	10	26359114	Silent	SNP	T	TCGA-DU-6407-01A-13D-1705-08	13556073	26359114	109175633	13	3367											
HPS1	3257	broad.mit.edu	37	chr10	100185433	100185433	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccagcatggagaagccAtccatcagctgggacagaac	12	7	10	12	0	2	2	1	0	1	2	4	4	3	3	3	2	4	2	3	2	2	1			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:100185433A>C	uc021pwv.1	-	12	1446	c.1200T>G	c.(1198-1200)gaT>gaG	p.D400E	HPS1_uc010qpg.2_Missense_Mutation_p.D20E|HPS1_uc009xwb.3_Non-coding_Transcript	NM_000195	NP_000186	Q92902	HPS1_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 1 (HPS1), transcript variant 1, mRNA.	400					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		TGGAGAAGCCATCCATCAGCT	0.692									Hermansky-Pudlak syndrome		OREG0020430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	23					0	0	1	0	0	C	100185433	A	C	100185433	3	2	78	1	0	0	0	0	1	0	0	0	7339	214	8	5	934	5	HPS1	10	100185433	Missense_Mutation	SNP	A	TCGA-DU-6407-01A-13D-1705-08	73826319	100185433	35349314	14	3368											
BBS1	582	broad.mit.edu	37	chr11	66294278	66294278	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagagcgggaggctggcaccGgtgagcctcagactgggtcc	7	5	18	11	2	1	3	1	1	0	2	2	5	2	4	3	5	2	2	3	5	0	0			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr11:66294278G>A	uc001oii.1	+	13	1528	c.1450_splice	c.e13+1	p.A484_splice	BBS1_uc001oil.1_Splice_Site_p.A318_splice|BBS1_uc010rpg.1_Splice_Site_p.A350_splice|BBS1_uc001oij.1_Splice_Site_p.A447_splice|BBS1_uc001oik.1_Splice_Site_p.A371_splice|ZDHHC24_uc009yrg.2_Intron|BBS1_uc010rph.1_Splice_Site_p.A115_splice	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Homo sapiens Bardet-Biedl syndrome 1 (BBS1), mRNA.	447					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						GGCTGGCACCGGTGAGCCTCA	0.622									Bardet-Biedl syndrome				6	111					0	0	1	0	0	A	66294278	G	A	66294278	5	1	78	1	0	0	0	0	0	0	1	0	1335	1130	39	2	1389	2	BBS1	11	66294278	Splice_Site	SNP	G	TCGA-DU-6407-01A-13D-1705-08		66294278	68712238	15	3369											
CBX5	23468	broad.mit.edu	37	chr12	54635636	54635636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctatcacaatttgtggaCatttcacattagcttctttt	10	18	5	8	0	3	0	2	0	1	0	3	1	3	1	0	1	2	2	0	1	3	7			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:54635636C>T	uc001sfh.4	-	4	797	c.479G>A	c.(478-480)tGt>tAt	p.C160Y	CBX5_uc001sfk.4_Missense_Mutation_p.C160Y|CBX5_uc001sfj.4_Missense_Mutation_p.C160Y	NM_001127322	NP_036249	P45973	CBX5_HUMAN	Homo sapiens chromobox homolog 5 (CBX5), transcript variant 1, mRNA.	160	Chromo 2; shadow subtype.				blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						AATTTGTGGACATTTCACATT	0.398													45	71					0	0	1	0	0	T	54635636	C	T	54635636	3	4	78	1	0	0	0	0	1	0	0	0	2721	478	17	3	100	3	CBX5	12	54635636	Missense_Mutation	SNP	C	TCGA-DU-6407-01A-13D-1705-08		54635636	79216259	16	3370											
MIPEP	4285	broad.mit.edu	37	chr13	24444199	24444199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accatcaattatgatatgatCcccagcagatgtaaagttac	15	11	6	9	0	1	3	1	2	0	1	2	3	2	3	3	0	2	3	3	0	6	4			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:24444199C>T	uc001uox.4	-	5	867	c.739G>A	c.(739-741)Gat>Aat	p.D247N		NM_005932	NP_005923	Q99797	MIPEP_HUMAN	Homo sapiens mitochondrial intermediate peptidase (MIPEP), nuclear gene encoding mitochondrial protein, mRNA.	247					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		ATGATATGATCCCCAGCAGAT	0.393													49	51					0	0	1	0	0	T	24444199	C	T	24444199	3	4	78	1	0	0	0	0	1	0	0	0	9592	855	30	3	1458	3	MIPEP	13	24444199	Missense_Mutation	SNP	C	TCGA-DU-6407-01A-13D-1705-08		24444199	90725679	17	3371											
TBC1D21	161514	broad.mit.edu	37	chr15	74178445	74178445	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtgtcatcaacattggCgtggccaagaacctagacat	12	9	10	10	1	2	2	2	0	0	2	2	2	2	2	2	2	3	1	2	2	4	2			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr15:74178445C>T	uc002avz.3	+	6	689	c.606C>T	c.(604-606)ggC>ggT	p.G202G	TBC1D21_uc010ulc.2_Silent_p.G166G	NM_153356	NP_699187	Q8IYX1	TBC21_HUMAN	Homo sapiens TBC1 domain family, member 21 (TBC1D21), mRNA.	202	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	17						TCAACATTGGCGTGGCCAAGA	0.572													3	41					0	0	1	0	0	T	74178445	C	T	74178445	2	4	78	1	0	0	0	0	0	0	0	1	15607	755	27	1		1	TBC1D21	15	74178445	Silent	SNP	C	TCGA-DU-6407-01A-13D-1705-08		74178445	28352947	18	3372											
TAT	6898	broad.mit.edu	37	chr16	71610262	71610262	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaacgttgacatgcacGtccagaattgaggggaggtt	11	8	12	10	2	0	3	0	2	0	1	1	4	1	4	3	3	2	3	3	3	2	3			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:71610262G>A	uc002fap.2	-	1	156	c.57C>T	c.(55-57)gaC>gaT	p.D19D	TAT_uc002faq.3_Silent_p.D19D|TAT_uc002far.3_Silent_p.D19D	NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	19					2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	TGACATGCACGTCCAGAATTG	0.522													5	56					0	0	1	0	0	A	71610262	G	A	71610262	2	1	78	1	0	0	0	0	0	0	0	1	15587	1136	40	1		1	TAT	16	71610262	Silent	SNP	G	TCGA-DU-6407-01A-13D-1705-08		71610262	18744491	19	3373											
ZDHHC7	55625	broad.mit.edu	37	chr16	85010046	85010046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccagaggagtgaggggggcCccccaaagacggacttcatc	10	5	14	12	1	1	3	1	1	0	2	3	5	2	5	4	5	0	0	4	5	1	1			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:85010046C>T	uc010voi.1	-	8	1294	c.941G>A	c.(940-942)gGg>gAg	p.G314E	ZDHHC7_uc002fiq.2_Missense_Mutation_p.G277E|ZDHHC7_uc002fir.1_Non-coding_Transcript	NM_001145548	NP_001139020	Q9NXF8	ZDHC7_HUMAN	Homo sapiens zinc finger, DHHC-type containing 7 (ZDHHC7), transcript variant 1, mRNA.	277						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(6)|lung(4)	10						TGAGGGGGGCCCCCCAAAGAC	0.572													13	20					0	0	1	0	0	T	85010046	C	T	85010046	3	4	78	1	0	0	0	0	1	0	0	0	17617	623	22	3	100	3	ZDHHC7	16	85010046	Missense_Mutation	SNP	C	TCGA-DU-6407-01A-13D-1705-08	13399784	85010046	5344707	20	3374											
TP53	7157	broad.mit.edu	37	chr17	7579362	7579362	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgcaagaagcccagacggaAaccgtagctgccctggtagg	12	5	13	11	2	0	2	0	0	0	2	0	3	0	3	3	3	5	4	3	3	5	2			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:7579362A>C	uc002gim.2	-	3	519	c.325T>G	c.(325-327)Ttc>Gtc	p.F109V	TP53_uc002gig.1_Missense_Mutation_p.F109V|TP53_uc002gih.3_Missense_Mutation_p.F109V|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Missense_Mutation_p.F109V|TP53_uc010cnh.1_Missense_Mutation_p.F109V|TP53_uc002gij.2_Missense_Mutation_p.F109V|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Missense_Mutation_p.F70V|TP53_uc010cnk.1_Missense_Mutation_p.F124V	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	109	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		F -> C (in sporadic cancers; somatic mutation).|F -> L (in a sporadic cancer; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.G108_F109delGF(4)|p.F109fs*16(4)|p.F109_R110delFR(4)|p.Q100fs*37(3)|p.G59fs*23(3)|p.G108del(2)|p.F109C(2)|p.Y103_G112>C(2)|p.F109S(2)|p.F109V(2)|p.Y103_L111>L(2)|p.G105_T125del21(2)|p.Y107fs*38(1)|p.G108S(1)|p.W91fs*13(1)|p.G108D(1)|p.G108G(1)|p.V73fs*9(1)|p.Y107fs*44(1)|p.S33fs*23(1)|p.G108fs*41(1)|p.F109F(1)|p.P13fs*18(1)|p.G108fs*15(1)|p.F109_R110insXX(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)		CCCAGACGGAAACCGTAGCTG	0.612		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)			54	7					0	0	1	0	0	C	7579362	A	C	7579362	3	2	78	1	0	0	0	0	1	0	0	0	16378	14	1	5	977	5	TP53	17	7579362	Missense_Mutation	SNP	A	TCGA-DU-6407-01A-13D-1705-08		7579362	73615848	21	3375											
ACACA	31	broad.mit.edu	37	chr17	35640173	35640173	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgctaataactcacctgcaTtggctttaaggtcttcaggt	10	14	8	9	0	3	0	2	0	1	0	3	0	3	0	1	3	3	3	1	3	3	6			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:35640173T>C	uc002hnm.3	-	4	685	c.494A>G	c.(493-495)aAt>aGt	p.N165S	ACACA_uc002hnk.3_Missense_Mutation_p.N87S|ACACA_uc002hnl.3_Missense_Mutation_p.N107S|ACACA_uc002hnn.3_Missense_Mutation_p.N165S|ACACA_uc002hno.3_Missense_Mutation_p.N202S|ACACA_uc010cuz.3_Missense_Mutation_p.N165S|ACACA_uc002hnq.2_Missense_Mutation_p.N87S	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	165	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTCACCTGCATTGGCTTTAAG	0.408													14	37					0	0	1	0	0	C	35640173	T	C	35640173	3	2	78	1	0	0	0	0	1	0	0	0	106	1493	52	3	6754	3	ACACA	17	35640173	Missense_Mutation	SNP	T	TCGA-DU-6407-01A-13D-1705-08	28060811	35640173	45555037	22	3376											
HNF1B	6928	broad.mit.edu	37	chr17	36059196	36059196	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggggttcctgcttgtgtgcGtacactggagagacagagtg	7	10	17	7	1	0	2	0	0	0	2	1	4	1	3	1	3	3	3	1	3	1	3			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:36059196G>A	uc002hok.4	-	7	1760	c.1539C>T	c.(1537-1539)taC>taT	p.Y513Y	HNF1B_uc021tvu.1_Silent_p.Y218Y|HNF1B_uc010wdi.2_Silent_p.Y487Y|HNF1B_uc021tvv.1_Intron|HNF1B_uc021tvw.1_Intron	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	513					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GCTTGTGTGCGTACACTGGAG	0.532													6	38					0	0	1	0	0	A	36059196	G	A	36059196	2	1	78	1	0	0	0	0	0	0	0	1	7252	1140	40	1		1	HNF1B	17	36059196	Silent	SNP	G	TCGA-DU-6407-01A-13D-1705-08	419023	36059196	45136014	23	3377											
HELZ	9931	broad.mit.edu	37	chr17	65105677	65105677	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcatactgtgcgtggggAgcaggaaggggaagatttat	11	10	16	4	1	0	1	0	0	0	1	0	4	0	4	0	5	4	2	0	5	4	4			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:65105677A>G	uc010wqk.2	-	28	4234	c.4047T>C	c.(4045-4047)gcT>gcC	p.A1349A	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Silent_p.A1348A|HELZ_uc010der.3_5'UTR	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.									p.P1349P(1)		NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GTGCGTGGGGAGCAGGAAGGG	0.473													43	41					0	0	1	0	0	G	65105677	A	G	65105677	2	3	78	1	0	0	0	0	0	0	0	1	7049	291	11	4		4	HELZ	17	65105677	Silent	SNP	A	TCGA-DU-6407-01A-13D-1705-08	29046481	65105677	16089533	24	3378											
LGI4	163175	broad.mit.edu	37	chr19	35616158	35616158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggggcccttaaagcaagcaGcaaagaggaagcgtctgccg	12	5	14	10	2	1	1	0	0	1	1	1	2	1	2	2	3	5	3	2	3	5	1			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:35616158G>A	uc002nxx.2	-	8	2147	c.1553C>T	c.(1552-1554)gCt>gTt	p.A518V	LGI4_uc002nxy.1_Missense_Mutation_p.A346V|LGI4_uc002nxz.1_3'UTR	NM_139284	NP_644813	Q8N135	LGI4_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 4 (LGI4), mRNA.	518						extracellular region				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			AAAGCAAGCAGCAAAGAGGAA	0.647													3	36					0	0	1	0	0	A	35616158	G	A	35616158	3	1	78	1	0	0	0	0	1	0	0	0	8754	971	34	3	64	3	LGI4	19	35616158	Missense_Mutation	SNP	G	TCGA-DU-6407-01A-13D-1705-08		35616158	23512825	25	3379											
USP25	29761	broad.mit.edu	37	chr21	17246819	17246819	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatgatgaagaattgataTcacattatagaagagaatgt	18	11	9	3	0	1	6	1	3	0	3	1	8	1	6	0	0	0	0	0	0	7	4			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:17246819T>C	uc011aby.1	+	23	3200	c.2983T>C	c.(2983-2985)Tca>Cca	p.S995P	USP25_uc002yjz.1_Missense_Mutation_p.S957P|USP25_uc010gla.1_Missense_Mutation_p.S320P|USP25_uc002yjy.1_Missense_Mutation_p.S925P	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	Homo sapiens ubiquitin specific peptidase 25 (USP25), mRNA.	925					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.S925P(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		AGAATTGATATCACATTATAG	0.328													30	162					0	0	1	0	0	C	17246819	T	C	17246819	3	2	78	1	0	0	0	0	1	0	0	0	17053	1435	50	3	2859	3	USP25	21	17246819	Missense_Mutation	SNP	T	TCGA-DU-6407-01A-13D-1705-08		17246819	30883076	26	3380											
CXorf21	80231	broad.mit.edu	37	chrX	30578233	30578233	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtctgcagcactgtgacTctctgacttctgctatgttg	5	17	9	10	0	3	2	0	2	3	0	4	2	3	2	0	0	3	4	0	0	1	4			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:30578233T>C	uc022bui.1	-	0	240	c.240A>G	c.(238-240)agA>agG	p.R80R	CXorf21_uc004dcg.2_Silent_p.R80R	NM_025159	NP_079435	Q9HAI6	CX021_HUMAN	Homo sapiens chromosome X open reading frame 21 (CXorf21), mRNA.	80								p.R80I(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						GCACTGTGACTCTCTGACTTC	0.453													6	183					0	0	1	0	0	C	30578233	T	C	30578233	2	2	78	1	0	0	0	0	0	0	0	1	4101	1548	54	4		4	CXorf21	23	30578233	Silent	SNP	T	TCGA-DU-6407-01A-13D-1705-08		30578233	124692327	27	3381											
CXorf59	286464	broad.mit.edu	37	chrX	36091355	36091355	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatatgaacaattcctttCtcttgaggaaggaacaaagg	17	10	8	6	0	1	2	0	2	1	0	3	4	2	4	1	3	2	0	1	3	8	4			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:36091355C>A	uc004ddk.1	+	3	476	c.290C>A	c.(289-291)tCt>tAt	p.S97Y		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	97						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						CAATTCCTTTCTCTTGAGGAA	0.433													27	63					3.73988e-18	4.04312e-18	1	1	0	A	36091355	C	A	36091355	3	1	78	1	0	0	0	0	1	0	0	0	4115	913	32	5	300	5	CXorf59	23	36091355	Missense_Mutation	SNP	C	TCGA-DU-6407-01A-13D-1705-08	5513122	36091355	119179205	28	3382											
ATRX	546	broad.mit.edu	37	chrX	76939340	76939343	+	Frame_Shift_Del	DEL	CTAC	CTAC	-																															ctgatgcatgtgctcactatCtacctgttttcttgaaagtt																										TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:76939340_76939343delCTAC	uc004ecp.4	-	8	1637_1640	c.1405_1408delGTAG	c.(1405-1410)gtagatfs	p.V469fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.V431fs|ATRX_uc004eco.4_Frame_Shift_Del_p.V254fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.V430fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.V469fs|ATRX_uc010nly.1_Frame_Shift_Del_p.V414fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	469					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TGCTCACTATCTACCTGTTTTCTT	0.358			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						132	279	---	---	---	---						-	76939343	CTAC	-	76939340	7	5	78	1	0	1	0	1	0	0	0	0	1208	913	32	0	6178	0	ATRX	23	76939340	Frame_Shift_Del	DEL	CTAC	TCGA-DU-6407-01A-13D-1705-08	40847985	76939340	78331220	29	3383											
HNRNPH2	3188	broad.mit.edu	37	chrX	100667035	100667035	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtcaggggcctaccctGgtcctgctcagccgatgaag	8	7	14	12	1	2	1	2	1	0	0	3	3	3	1	4	4	3	1	4	4	3	1			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:100667035G>T	uc022cai.1	+	0	59	c.59G>T	c.(58-60)tGg>tTg	p.W20L	RPL36A-HNRNPH2_uc022cag.1_3'UTR|RPL36A-HNRNPH2_uc022cah.1_3'UTR|HNRNPH2_uc004ehm.3_Missense_Mutation_p.W20L|HNRNPH2_uc004ehn.3_Missense_Mutation_p.W20L	NM_019597	NP_062543	P55795	HNRH2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein H2 (H') (HNRNPH2), transcript variant 1, mRNA.	20	RRM 1.				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						GGCCTACCCTGGTCCTGCTCA	0.527													5	90					0.014758	0.014758	1	1	0	T	100667035	G	T	100667035	3	4	78	1	0	0	0	0	1	0	0	0	7267	1357	47	5	61	5	HNRNPH2	23	100667035	Missense_Mutation	SNP	G	TCGA-DU-6407-01A-13D-1705-08	23727695	100667035	54603525	30	3384											
SYCP1	6847	broad.mit.edu	37	chr1	115401333	115401333	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagccattcaggaactgcaaGtatgacacaattttgcattg	14	11	8	8	0	1	1	1	1	0	0	1	2	1	2	1	1	4	3	1	1	5	5			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr1:115401333G>A	uc001efr.3	+	6	665	c.456_splice	c.e6+1	p.Q152_splice	SYCP1_uc010owt.2_Splice_Site|SYCP1_uc001efq.3_Splice_Site_p.Q152_splice|SYCP1_uc009wgw.3_Splice_Site_p.Q152_splice	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	152					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGAACTGCAAGTATGACACAA	0.323													32	92					0	0	0.796494	0	0	A	115401333	G	A	115401333	5	1	79	1	0	0	0	0	0	0	1	0	15428	1043	36	3	475	3	SYCP1	1	115401333	Splice_Site	SNP	G	TCGA-DU-6408-01A-11D-1705-08		115401333	133849288	1	3385											
NES	10763	broad.mit.edu	37	chr1	156639260	156639263	+	Frame_Shift_Del	DEL	CTCC	CTCC	-																															ctgaaaggggctccctcggtCtccctcagagactagcggca																										TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr1:156639260_156639263delCTCC	uc001fpq.3	-	3	4850_4853	c.4717_4720delGGAG	c.(4717-4722)ggagacfs	p.G1573fs	NES_uc021pbh.1_Frame_Shift_Del_p.G491fs	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	1573	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCCCTCGGTCTCCCTCAGAGACT	0.598													29	42	---	---	---	---						-	156639263	CTCC	-	156639260	7	5	79	1	0	1	0	1	0	0	0	0	10337	913	32	0	149	0	NES	1	156639260	Frame_Shift_Del	DEL	CTCC	TCGA-DU-6408-01A-11D-1705-08	41237927	156639260	92611361	2	3386											
RAB11FIP5	26056	broad.mit.edu	37	chr2	73315196	73315196	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgggtttctgagtcgggTccttggcttctctcaagcca	5	13	11	12	1	3	1	1	1	2	0	6	1	4	1	3	3	1	2	3	3	1	3			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr2:73315196T>C	uc002siu.4	-	2	1791	c.1550A>G	c.(1549-1551)gAc>gGc	p.D517G	RAB11FIP5_uc002sit.4_Missense_Mutation_p.D439G	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.	517					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CTGAGTCGGGTCCTTGGCTTC	0.602													14	21					0	0	0.435327	0	0	C	73315196	T	C	73315196	3	2	79	1	0	0	0	0	1	0	0	0	12897	1667	58	3	423	3	RAB11FIP5	2	73315196	Missense_Mutation	SNP	T	TCGA-DU-6408-01A-11D-1705-08		73315196	169884177	3	3387											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								21	34					0	0	0.624587	0	0	T	209113112	C	T	209113112	3	4	79	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-6408-01A-11D-1705-08	135797916	209113112	34086261	4	3388											
ZBTB20	26137	broad.mit.edu	37	chr3	114057857	114057857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaaagatactacttatcCgtcagacacatgcatcctca	15	9	6	11	1	2	3	2	0	0	3	4	4	4	3	2	0	3	1	2	0	4	3	rs150263896		TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr3:114057857C>T	uc003ebi.3	-	4	2401	c.2221G>A	c.(2221-2223)Gga>Aga	p.G741R	ZBTB20_uc003ebj.3_Missense_Mutation_p.G668R|ZBTB20_uc010hqp.3_Missense_Mutation_p.G668R|ZBTB20_uc003ebk.3_Missense_Mutation_p.G668R|ZBTB20_uc003ebl.3_Missense_Mutation_p.G668R|ZBTB20_uc003ebm.3_Missense_Mutation_p.G668R|ZBTB20_uc003ebn.3_Missense_Mutation_p.G668R	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	741					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		ACTACTTATCCGTCAGACACA	0.413													28	35					0	0	0.740014	0	0	T	114057857	C	T	114057857	3	4	79	1	0	0	0	0	1	0	0	0	17526	661	23	2	8	2	ZBTB20	3	114057857	Missense_Mutation	SNP	C	TCGA-DU-6408-01A-11D-1705-08		114057857	83964573	5	3389											
MED12L	116931	broad.mit.edu	37	chr3	150877703	150877703	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctttccttgctgctgagcGatagccccaacctccttgct	5	13	8	15	1	1	1	0	1	1	0	3	2	3	1	5	0	6	3	5	0	2	4			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr3:150877703G>T	uc003eyp.3	+	6	1051	c.922G>T	c.(922-924)Gat>Tat	p.D308Y	MED12L_uc011bnz.2_Intron|MED12L_uc003eyn.3_Missense_Mutation_p.D308Y|MED12L_uc003eyo.3_Missense_Mutation_p.D308Y	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	308					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCTGCTGAGCGATAGCCCCAA	0.577													5	96					0.014758	0.0151269	0.184627	1	0	T	150877703	G	T	150877703	3	4	79	1	0	0	0	0	1	0	0	0	9429	1058	37	5	948	5	MED12L	3	150877703	Missense_Mutation	SNP	G	TCGA-DU-6408-01A-11D-1705-08	36819846	150877703	47144727	6	3390											
MUC4	4585	broad.mit.edu	37	chr3	195516420	195516420	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggaacaatttctgagggCgagtgcccactggctgtgaa	10	9	14	8	1	1	3	0	3	1	0	1	5	1	4	1	3	2	1	1	3	3	1			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr3:195516420C>T	uc021xjp.1	-	1	2187	c.2031G>A	c.(2029-2031)tcG>tcA	p.S677S	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Silent_p.S559S	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	682					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TTTCTGAGGGCGAGTGCCCAC	0.582													26	32					0	0	0.717897	0	0	T	195516420	C	T	195516420	2	4	79	1	0	0	0	0	0	0	0	1	9978	755	27	1		1	MUC4	3	195516420	Silent	SNP	C	TCGA-DU-6408-01A-11D-1705-08	44638717	195516420	2506010	7	3391											
DNAH5	1767	broad.mit.edu	37	chr5	13735963	13735963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaataagcccagaaactggCgaagcgaagtctgatacatc	16	6	9	10	2	1	2	0	1	1	1	2	4	1	2	1	1	4	0	1	1	6	2			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr5:13735963C>T	uc003jfd.2	-	66	11576	c.11534G>A	c.(11533-11535)cGc>cAc	p.R3845H	DNAH5_uc003jfc.2_Missense_Mutation_p.R13H	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3845					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGAAACTGGCGAAGCGAAGT	0.468									Kartagener syndrome				4	89					0	0	0.184627	0	0	T	13735963	C	T	13735963	3	4	79	1	0	0	0	0	1	0	0	0	4604	768	27	1	2392	1	DNAH5	5	13735963	Missense_Mutation	SNP	C	TCGA-DU-6408-01A-11D-1705-08		13735963	167179297	8	3392											
RGNEF	64283	broad.mit.edu	37	chr5	73072373	73072373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggtccccaagcttctcccGagtgcagctcagtgaagaag	10	8	11	12	1	2	2	1	1	1	1	4	3	3	2	3	1	3	3	3	1	3	1			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr5:73072373G>A	uc010izf.3	+	5	868	c.692G>A	c.(691-693)cGa>cAa	p.R231Q	RGNEF_uc011csq.2_Missense_Mutation_p.R231Q|RGNEF_uc003kcy.1_Missense_Mutation_p.R231Q|RGNEF_uc021yam.1_Missense_Mutation_p.R231Q	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	231					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		AGCTTCTCCCGAGTGCAGCTC	0.522													41	40					0	0	0.834066	0	0	A	73072373	G	A	73072373	3	1	79	1	0	0	0	0	1	0	0	0	13283	1058	37	2	710	2	RGNEF	5	73072373	Missense_Mutation	SNP	G	TCGA-DU-6408-01A-11D-1705-08	59336410	73072373	107842887	9	3393											
PCDHGC5	56097	broad.mit.edu	37	chr5	140746018	140746018	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctgcgtcttcctggccttCgtcatcgtgctgctggtgct	1	15	11	14	3	2	0	1	0	1	0	6	0	4	0	3	2	4	3	3	2	0	2			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr5:140746018C>T	uc003lju.2	+	0	2121	c.2121C>T	c.(2119-2121)ttC>ttT	p.F707F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Silent_p.F707F	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	708					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGGCCTTCGTCATCGTGC	0.602													61	55					0	0	0.870114	0	0	T	140746018	C	T	140746018	2	4	79	1	0	0	0	0	0	0	0	1	11571	883	31	2		2	PCDHGC5	5	140746018	Silent	SNP	C	TCGA-DU-6408-01A-11D-1705-08	67673645	140746018	40169242	10	3394											
COL12A1	1303	broad.mit.edu	37	chr6	75887610	75887610	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtaattttgaaactatctgTagtctcatctgtcaccttta	11	17	5	8	0	4	1	2	1	3	0	5	1	4	1	1	0	1	2	1	0	5	7			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr6:75887610T>C	uc021zbv.1	-	10	2241	c.2206A>G	c.(2206-2208)Aca>Gca	p.T736A	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.T736A|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_Missense_Mutation_p.T394A	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	736	Fibronectin type-III 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AAACTATCTGTAGTCTCATCT	0.343													4	140					0	0	0.184627	0	0	C	75887610	T	C	75887610	3	2	79	1	0	0	0	0	1	0	0	0	3669	1638	57	3	7205	3	COL12A1	6	75887610	Missense_Mutation	SNP	T	TCGA-DU-6408-01A-11D-1705-08		75887610	95227457	11	3395											
SIM1	6492	broad.mit.edu	37	chr6	100868697	100868697	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggaagtcctggattttgacTttgagctggagagccgggat	8	11	16	6	1	0	3	0	2	0	1	1	7	1	6	2	4	2	1	2	4	1	3			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr6:100868697T>C	uc003pqj.4	-	8	1603	c.1136A>G	c.(1135-1137)aAg>aGg	p.K379R	SIM1_uc021zdg.1_Missense_Mutation_p.K379R|SIM1_uc010kcu.3_Missense_Mutation_p.K379R	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	379	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.K379N(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGATTTTGACTTTGAGCTGGA	0.488													7	71					0	0	0.307466	0	0	C	100868697	T	C	100868697	3	2	79	1	0	0	0	0	1	0	0	0	14323	1609	56	4	1176	4	SIM1	6	100868697	Missense_Mutation	SNP	T	TCGA-DU-6408-01A-11D-1705-08	24981087	100868697	70246370	12	3396											
SLC26A7	115111	broad.mit.edu	37	chr8	92406210	92406210	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatggaaacctagactcagaGaaaccaattttttttgaatc	15	13	6	7	0	1	3	1	1	0	2	2	5	1	4	2	1	2	0	2	1	6	6			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr8:92406210G>C	uc003yez.3	+	17	2117	c.1878G>C	c.(1876-1878)gaG>gaC	p.E626D	SLC26A7_uc003yex.3_Missense_Mutation_p.E626D|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Missense_Mutation_p.E626D	NM_134266	NP_599028	Q8TE54	S26A7_HUMAN	Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA.	626	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TAGACTCAGAGAAACCAATTT	0.343													9	118					0	0	0.335167	0	0	C	92406210	G	C	92406210	3	2	79	1	0	0	0	0	1	0	0	0	14522	933	33	5	1944	5	SLC26A7	8	92406210	Missense_Mutation	SNP	G	TCGA-DU-6408-01A-11D-1705-08		92406210	53957812	13	3397											
CCIN	881	broad.mit.edu	37	chr9	36170748	36170748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatccccatggatggcaccGccgtgatcactaaaggagac	11	6	11	13	2	1	2	1	1	0	1	2	4	2	3	4	3	0	2	4	3	2	1			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr9:36170748G>A	uc003zzb.4	+	0	1360	c.1249G>A	c.(1249-1251)Gcc>Acc	p.A417T		NM_005893	NP_005884	Q13939	CALI_HUMAN	Homo sapiens calicin (CCIN), mRNA.	417					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GGATGGCACCGCCGTGATCAC	0.537													4	44					0	0	0.184627	0	0	A	36170748	G	A	36170748	3	1	79	1	0	0	0	0	1	0	0	0	2878	1087	38	1	1251	1	CCIN	9	36170748	Missense_Mutation	SNP	G	TCGA-DU-6408-01A-11D-1705-08		36170748	105042683	14	3398											
ECHS1	1892	broad.mit.edu	37	chr10	135183409	135183409	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcttggcagcaacactcacgGcatagccattgacagcagcg	11	7	10	13	2	2	1	1	1	1	0	2	1	2	1	1	2	5	4	1	2	2	3			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr10:135183409G>A	uc001lmu.3	-	3	485	c.414_splice	c.e3+1	p.A138_splice		NM_004092	NP_004083	P30084	ECHM_HUMAN	Homo sapiens enoyl CoA hydratase, short chain, 1, mitochondrial (ECHS1), nuclear gene encoding mitochondrial protein, mRNA.	138				A -> P (in Ref. 1; BAA03001).	fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		AACACTCACGGCATAGCCATT	0.493													3	41					0	0	0.115264	0	0	A	135183409	G	A	135183409	5	1	79	1	0	0	0	0	0	0	1	0	4896	1217	42	3	483	3	ECHS1	10	135183409	Splice_Site	SNP	G	TCGA-DU-6408-01A-11D-1705-08		135183409	351338	15	3399											
IFITM5	387733	broad.mit.edu	37	chr11	298552	298552	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagaaggcggcagagtcCttggccagccgggccaggtg	8	5	17	11	2	0	3	0	1	0	2	1	3	1	3	4	5	1	1	4	5	2	1			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr11:298552C>T	uc001low.1	-	1	384	c.348G>A	c.(346-348)aaG>aaA	p.K116K		NM_001025295	NP_001020466	A6NNB3	IFM5_HUMAN	Homo sapiens interferon induced transmembrane protein 5 (IFITM5), mRNA.	116					multicellular organismal development|regulation of bone mineralization|response to biotic stimulus	integral to membrane|plasma membrane				lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGGCAGAGTCCTTGGCCAGCC	0.642													3	7					0	0	0.115264	0	0	T	298552	C	T	298552	2	4	79	1	0	0	0	0	0	0	0	1	7529	680	24	3		3	IFITM5	11	298552	Silent	SNP	C	TCGA-DU-6408-01A-11D-1705-08		298552	134707964	16	3400											
OR8G2	26492	broad.mit.edu	37	chr11	124095915	124095915	+	Frame_Shift_Del	DEL	C	C	-																															ccttggatctacaattcacaCcggctttatgttgagactct																										TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr11:124095915delC	uc010saf.2	+	0	518	c.518delC	c.(517-519)accfs	p.T173fs		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	173						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		ACAATTCACACCGGCTTTATG	0.453													49	325	---	---	---	---						-	124095915	C	-	124095915	7	5	79	1	0	1	0	1	0	0	0	0	11235	507	18	0	520	0	OR8G2	11	124095915	Frame_Shift_Del	DEL	C	TCGA-DU-6408-01A-11D-1705-08	123797363	124095915	10910601	17	3401											
TAS2R9	50835	broad.mit.edu	37	chr12	10961751	10961751	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctctatggaacaaaaggCtttcttcttctaaggaaaca	13	12	8	8	0	4	0	0	0	4	0	5	2	4	2	0	4	2	1	0	4	6	5			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr12:10961751C>G	uc001qyx.3	-	0	1017	c.924G>C	c.(922-924)aaG>aaC	p.K308N	TAS2R8_uc010shh.2_5'Flank	NM_023917	NP_076406	Q9NYW1	TA2R9_HUMAN	Homo sapiens taste receptor, type 2, member 9 (TAS2R9), mRNA.	308					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GAACAAAAGGCTTTCTTCTTC	0.368													22	67					0	0	0.608945	0	0	G	10961751	C	G	10961751	3	3	79	1	0	0	0	0	1	0	0	0	15585	796	28	5	18	5	TAS2R9	12	10961751	Missense_Mutation	SNP	C	TCGA-DU-6408-01A-11D-1705-08		10961751	122890144	18	3402											
KL	9365	broad.mit.edu	37	chr13	33638070	33638070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccgaggtttggcctctatcGttatgctgcagatcagtttg	6	15	11	9	2	2	1	1	0	1	1	4	2	3	1	2	2	2	5	2	2	2	4			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr13:33638070G>A	uc001uus.3	+	4	2794	c.2786G>A	c.(2785-2787)cGt>cAt	p.R929H		NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	929	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GGCCTCTATCGTTATGCTGCA	0.448													18	92					0	0	0.520397	0	0	A	33638070	G	A	33638070	3	1	79	1	0	0	0	0	1	0	0	0	8331	1145	40	1	2804	1	KL	13	33638070	Missense_Mutation	SNP	G	TCGA-DU-6408-01A-11D-1705-08		33638070	81531808	19	3403											
AKAP6	9472	broad.mit.edu	37	chr14	33165315	33165315	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagcagcagcatctttacaAggttagagctacccttcctg	10	10	9	12	0	1	1	0	0	1	1	2	1	2	1	2	1	6	6	2	1	4	5			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr14:33165315A>C	uc001wrq.3	+	9	3170	c.3000_splice	c.e9+1	p.K1000_splice	AKAP6_uc010aml.3_Splice_Site_p.K997_splice	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1000					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CATCTTTACAAGGTTAGAGCT	0.478													3	36					0	0	0.150653	0	0	C	33165315	A	C	33165315	5	2	79	1	0	0	0	0	0	0	1	0	455	86	3	5	3029	5	AKAP6	14	33165315	Splice_Site	SNP	A	TCGA-DU-6408-01A-11D-1705-08		33165315	74184225	20	3404											
CLEC18B	497190	broad.mit.edu	37	chr16	74443750	74443750	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggttaacagctctgcctacCccatggcagcactcagccac	9	7	9	16	0	2	0	1	0	1	0	2	0	2	0	4	2	6	4	4	2	2	2	rs149961754	byFrequency	TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr16:74443750C>T	uc002fct.3	-	11	1438	c.1238_splice	c.e11+1	p.G413_splice	CLEC18B_uc002fcu.3_Intron	NM_001011880	NP_001011880	Q6UXF7	CL18B_HUMAN	Homo sapiens C-type lectin domain family 18, member B (CLEC18B), mRNA.	413	C-type lectin.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTCTGCCTACCCCATGGCAGC	0.637													4	22					0	0	0.150653	0	0	T	74443750	C	T	74443750	5	4	79	1	0	0	0	0	0	0	1	0	3503	637	22	3	141	3	CLEC18B	16	74443750	Splice_Site	SNP	C	TCGA-DU-6408-01A-11D-1705-08		74443750	15911003	21	3405											
PLCG2	5336	broad.mit.edu	37	chr16	81819709	81819709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttccgcaagtccacccccGagcggagaaccgtccaggtg	8	5	12	16	4	0	1	0	0	0	1	3	3	3	1	6	2	2	2	6	2	2	1			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr16:81819709G>A	uc002fgt.3	+	1	293	c.115G>A	c.(115-117)Gag>Aag	p.E39K	PLCG2_uc010chg.1_Missense_Mutation_p.E39K	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	39	PH.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GTCCACCCCCGAGCGGAGAAC	0.592													6	16					0	0	0.307466	0	0	A	81819709	G	A	81819709	3	1	79	1	0	0	0	0	1	0	0	0	12036	1059	37	2	117	2	PLCG2	16	81819709	Missense_Mutation	SNP	G	TCGA-DU-6408-01A-11D-1705-08	7375959	81819709	8535044	22	3406											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			14	18					0	0	0.435327	0	0	A	7577121	G	A	7577121	3	1	79	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DU-6408-01A-11D-1705-08		7577121	73618089	23	3407											
TP53	7157	broad.mit.edu	37	chr17	7577518	7577518	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggagtcttccagtgtgaTgatggtgaggatgggcctcc	6	11	15	9	0	1	3	0	3	1	0	3	5	3	5	4	4	0	0	4	4	0	1			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr17:7577518T>A	uc002gim.2	-	6	957	c.763A>T	c.(763-765)Atc>Ttc	p.I255F	TP53_uc002gig.1_Missense_Mutation_p.I255F|TP53_uc002gih.3_Missense_Mutation_p.I255F|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.I123F|TP53_uc010cnf.1_Missense_Mutation_p.I123F|TP53_uc002gii.1_Missense_Mutation_p.I123F|TP53_uc010cni.1_Missense_Mutation_p.I255F|TP53_uc010cnh.1_Missense_Mutation_p.I255F|TP53_uc002gij.2_Missense_Mutation_p.I255F|DL476366_uc021tpf.1_Non-coding_Transcript|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.I162F|TP53_uc002gio.2_Missense_Mutation_p.I123F|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.	255	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		I -> F (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.I255F(38)|p.I255del(14)|p.0?(8)|p.I255S(8)|p.I254F(7)|p.I255T(7)|p.I255N(7)|p.I254S(6)|p.I255fs*9(6)|p.I255V(6)|p.I254V(5)|p.I255fs*90(5)|p.I254fs*10(5)|p.L252_I254delLTI(4)|p.T253_I255del(4)|p.I254T(3)|p.I254N(3)|p.I254D(3)|p.I254del(2)|p.I254fs*7(2)|p.I254_T256del(2)|p.R249_T256delRPILTIIT(2)|p.I255fs*8(2)|p.I255I(2)|p.I254I(1)|p.?(1)|p.I254fs*91(1)|p.I255M(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)		TCCAGTGTGATGATGGTGAGG	0.582		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)			16	15					0	0	0.520397	0	0	A	7577518	T	A	7577518	3	1	79	1	0	0	0	0	1	0	0	0	16378	1464	51	5	527	5	TP53	17	7577518	Missense_Mutation	SNP	T	TCGA-DU-6408-01A-11D-1705-08	397	7577518	73617692	24	3408											
SMCR8	140775	broad.mit.edu	37	chr17	18219589	18219589	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttatatctctgcagaccaGcataaaatcatgcagcagtt	13	11	7	10	0	2	1	1	0	1	1	3	1	2	1	1	0	4	6	1	0	4	4			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr17:18219589G>A	uc002gsy.4	+	0	996	c.486G>A	c.(484-486)caG>caA	p.Q162Q		NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 8 (SMCR8), mRNA.	162										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CTGCAGACCAGCATAAAATCA	0.527													3	50					0	0	0.115264	0	0	A	18219589	G	A	18219589	2	1	79	1	0	0	0	0	0	0	0	1	14792	962	34	3		3	SMCR8	17	18219589	Silent	SNP	G	TCGA-DU-6408-01A-11D-1705-08	10642071	18219589	62975621	25	3409											
IGF2BP1	10642	broad.mit.edu	37	chr17	47122357	47122357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctttttgctttttagattgCaccacccgaaacacctgact	9	14	6	12	1	0	2	0	1	0	1	0	3	0	2	3	0	3	3	3	0	2	6			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr17:47122357C>T	uc002iom.3	+	11	1659	c.1325C>T	c.(1324-1326)gCa>gTa	p.A442V	IGF2BP1_uc010dbj.3_Missense_Mutation_p.A303V	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	442	KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	p.A442A(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTTTAGATTGCACCACCCGAA	0.478													28	65					0	0	0.729181	0	0	T	47122357	C	T	47122357	3	4	79	1	0	0	0	0	1	0	0	0	7573	710	25	3	1371	3	IGF2BP1	17	47122357	Missense_Mutation	SNP	C	TCGA-DU-6408-01A-11D-1705-08	28902768	47122357	34072853	26	3410											
OLFM2	93145	broad.mit.edu	37	chr19	9965171	9965171	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcatgacctcgagggtgtgCgggtccagccggctgaccac	6	6	15	14	4	0	2	0	2	0	0	2	3	1	2	4	3	2	2	4	3	0	0			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr19:9965171C>T	uc002mmp.3	-	5	1084	c.1056G>A	c.(1054-1056)ccG>ccA	p.P352P		NM_058164	NP_477512	O95897	NOE2_HUMAN	Homo sapiens olfactomedin 2 (OLFM2), mRNA.	352	Olfactomedin-like.					extracellular region		p.P352P(2)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CGAGGGTGTGCGGGTCCAGCC	0.642													3	42					0	0	0.115264	0	0	T	9965171	C	T	9965171	2	4	79	1	0	0	0	0	0	0	0	1	10853	755	27	1		1	OLFM2	19	9965171	Silent	SNP	C	TCGA-DU-6408-01A-11D-1705-08		9965171	49163812	27	3411											
PKN1	5585	broad.mit.edu	37	chr19	14568915	14568915	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggaagccatgtggccccaAtgcctgggaccagagcttca	9	8	12	12	0	1	1	1	0	0	1	1	3	1	3	5	3	3	1	5	3	2	2			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr19:14568915A>T	uc002myp.3	+	7	1406	c.1238A>T	c.(1237-1239)aAt>aTt	p.N413I	PKN1_uc002myq.3_Missense_Mutation_p.N419I	NM_002741	NP_002732	Q16512	PKN1_HUMAN	Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.	413	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TGTGGCCCCAATGCCTGGGAC	0.592													6	77					0	0	0.217242	0	0	T	14568915	A	T	14568915	3	4	79	1	0	0	0	0	1	0	0	0	11979	101	4	5	1311	5	PKN1	19	14568915	Missense_Mutation	SNP	A	TCGA-DU-6408-01A-11D-1705-08	4603744	14568915	44560068	28	3412											
ZNF765	91661	broad.mit.edu	37	chr19	53911501	53911501	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aattgtagctcactcttaagGaaacatcagttaatccattt	14	14	5	8	0	3	0	2	0	1	0	4	1	4	1	1	1	2	3	1	1	5	5			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr19:53911501G>A	uc010ydx.2	+	5	1020	c.693G>A	c.(691-693)agG>agA	p.R231R	ZNF765_uc002qbm.3_Silent_p.R231R|ZNF765_uc002qbn.3_Intron	NM_001040185	NP_001035275	Q7L2R6	ZN765_HUMAN	Homo sapiens zinc finger protein 765 (ZNF765), mRNA.	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		CACTCTTAAGGAAACATCAGT	0.368													3	28					0	0	0.115264	0	0	A	53911501	G	A	53911501	2	1	79	1	0	0	0	0	0	0	0	1	18136	1165	41	3		3	ZNF765	19	53911501	Silent	SNP	G	TCGA-DU-6408-01A-11D-1705-08	39342586	53911501	5217482	29	3413											
RAC2	5880	broad.mit.edu	37	chr22	37627415	37627415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgctggggcagtggtgccGcacttctgggaaccactggg	5	9	17	10	1	1	0	0	0	1	0	1	1	1	1	2	5	3	3	2	5	1	1			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr22:37627415G>A	uc003arc.3	-	4	421	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W		NM_002872	NP_002863	P15153	RAC2_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2) (RAC2), mRNA.	102					axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						CAGTGGTGCCGCACTTCTGGG	0.627													23	20					0	0	0.693898	0	0	A	37627415	G	A	37627415	3	1	79	1	0	0	0	0	1	0	0	0	12975	1086	38	1	282	1	RAC2	22	37627415	Missense_Mutation	SNP	G	TCGA-DU-6408-01A-11D-1705-08		37627415	13677151	30	3414											
ATRX	546	broad.mit.edu	37	chrX	76874371	76874371	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcacactgaccattttgaAttggatttataaatctattc	12	16	5	8	0	1	2	0	2	1	0	2	3	1	3	1	1	1	1	1	1	5	8			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chrX:76874371A>C	uc004ecp.4	-	20	5583	c.5351T>G	c.(5350-5352)aTt>aGt	p.I1784S	ATRX_uc004ecq.4_Missense_Mutation_p.I1746S|ATRX_uc004eco.4_Missense_Mutation_p.I1569S	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1784					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ACCATTTTGAATTGGATTTAT	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						36	64					0	0	0.796494	0	0	C	76874371	A	C	76874371	3	2	79	1	0	0	0	0	1	0	0	0	1208	101	4	5	2187	5	ATRX	23	76874371	Missense_Mutation	SNP	A	TCGA-DU-6408-01A-11D-1705-08		76874371	78396189	31	3415			1	3		2	2	63	A		6.408734e-05
ATRX	546	broad.mit.edu	37	chrX	76874433	76874433	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtaaattttccttgataaaAttaaccatacaatgatctaa	18	14	3	6	0	1	2	0	2	1	0	2	2	2	2	2	0	2	1	2	0	8	8			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chrX:76874433A>C	uc004ecp.4	-	20	5521	c.5289T>G	c.(5287-5289)aaT>aaG	p.N1763K	ATRX_uc004ecq.4_Missense_Mutation_p.N1725K|ATRX_uc004eco.4_Missense_Mutation_p.N1548K	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1763	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CCTTGATAAAATTAACCATAC	0.308			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						17	39					0	0	0.520397	0	0	C	76874433	A	C	76874433	3	2	79	1	0	0	0	0	1	0	0	0	1208	98	4	5	2249	5	ATRX	23	76874433	Missense_Mutation	SNP	A	TCGA-DU-6408-01A-11D-1705-08	62	76874433	78396127	32	3416			1	3		2	2	63	A		6.408734e-05
UBE4B	10277	broad.mit.edu	37	chr1	10182079	10182079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgtaggaatctcccatatgGcttcattcaggaactggtga	10	12	11	8	0	3	1	2	1	1	0	4	3	3	3	1	4	1	2	1	4	4	4			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr1:10182079G>A	uc021ogc.1	+	10	2340	c.1652G>A	c.(1651-1653)gGc>gAc	p.G551D	UBE4B_uc001aqs.4_Missense_Mutation_p.G500D|UBE4B_uc001aqr.4_Missense_Mutation_p.G371D|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Intron	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	500					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CTCCCATATGGCTTCATTCAG	0.493													12	66					0	0	0.435327	0	0	A	10182079	G	A	10182079	3	1	80	1	0	0	0	0	1	0	0	0	16880	1203	42	3	1537	3	UBE4B	1	10182079	Missense_Mutation	SNP	G	TCGA-DU-6410-01A-11D-1893-08		10182079	239068542	1	3417											
EXTL1	2134	broad.mit.edu	37	chr1	26361731	26361731	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaaccagatagcggcagcgTtcggccacatgcccttgctg	8	8	11	14	3	1	1	1	0	0	1	2	1	1	1	3	2	5	3	3	2	2	3			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr1:26361731T>C	uc001blf.3	+	10	2791	c.1924T>C	c.(1924-1926)Ttc>Ctc	p.F642L		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	Homo sapiens exostoses (multiple)-like 1 (EXTL1), mRNA.	642					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		AGCGGCAGCGTTCGGCCACAT	0.642													45	7					0	0	0.870114	0	0	C	26361731	T	C	26361731	3	2	80	1	0	0	0	0	1	0	0	0	5325	1725	60	3	1966	3	EXTL1	1	26361731	Missense_Mutation	SNP	T	TCGA-DU-6410-01A-11D-1893-08	16179652	26361731	222888890	2	3418											
ARID1A	8289	broad.mit.edu	37	chr1	27101342	27101342	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatcagagggccaaccacGaaggctcgtggccttcccat	10	6	11	14	2	1	2	1	0	0	2	3	3	2	2	4	3	1	1	4	3	2	1			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr1:27101342G>T	uc001bmv.1	+	17	4997	c.4624G>T	c.(4624-4626)Gaa>Taa	p.E1542*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.E1541*|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Nonsense_Mutation_p.E1159*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.E388*|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1542					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.E1542*(2)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCCAACCACGAAGGCTCGTG	0.642			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								42	4					1.62957e-23	1.78626e-23	0.840704	1	0	T	27101342	G	T	27101342	4	4	80	1	0	0	0	0	0	1	0	0	913	1059	37	5	4694	5	ARID1A	1	27101342	Nonsense_Mutation	SNP	G	TCGA-DU-6410-01A-11D-1893-08	739611	27101342	222149279	3	3419											
CDC20	991	broad.mit.edu	37	chr1	43824985	43824985	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctggcagcgcaaagccaaGgaagccgcaggcccggcccc	9	1	14	17	4	0	0	0	0	0	0	0	1	0	1	5	4	3	4	5	4	3	0			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr1:43824985G>A	uc001cix.3	+	1	200	c.99G>A	c.(97-99)aaG>aaA	p.K33K	CDC20_uc001ciy.3_Silent_p.K33K	NM_001255	NP_001246	Q12834	CDC20_HUMAN	Homo sapiens cell division cycle 20 homolog (S. cerevisiae) (CDC20), mRNA.	33					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCAAAGCCAAGGAAGCCGCAG	0.677													4	37					0	0	0.184627	0	0	A	43824985	G	A	43824985	2	1	80	1	0	0	0	0	0	0	0	1	3059	991	35	3		3	CDC20	1	43824985	Silent	SNP	G	TCGA-DU-6410-01A-11D-1893-08	16723643	43824985	205425636	4	3420											
INTS3	65123	broad.mit.edu	37	chr1	153745465	153745465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaagccacccaagagcCggcgaaaagcagctctgtcc	12	3	9	17	2	1	1	0	0	1	1	2	2	2	1	6	1	4	2	6	1	4	0			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr1:153745465C>T	uc009wom.3	+	29	3180	c.2959C>T	c.(2959-2961)Cgg>Tgg	p.R987W	INTS3_uc001fct.3_Missense_Mutation_p.R987W|INTS3_uc001fcu.3_Missense_Mutation_p.R679W|INTS3_uc001fcv.3_Missense_Mutation_p.R781W|INTS3_uc010peb.2_Missense_Mutation_p.R847W|INTS3_uc001fcw.3_Missense_Mutation_p.R500W|INTS3_uc010pec.2_Missense_Mutation_p.R500W|INTS3_uc001fcx.3_Missense_Mutation_p.R284W|INTS3_uc001fcy.3_Missense_Mutation_p.R350W	NM_023015	NP_075391	Q68E01	INT3_HUMAN	Homo sapiens integrator complex subunit 3 (INTS3), mRNA.	988					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	SOSS complex|integrator complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACCCAAGAGCCGGCGAAAAGC	0.557													59	92					0	0	0.870114	0	0	T	153745465	C	T	153745465	3	4	80	1	0	0	0	0	1	0	0	0	7779	643	23	2	3073	2	INTS3	1	153745465	Missense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08	109920480	153745465	95505156	5	3421											
KCNN3	3782	broad.mit.edu	37	chr1	154842348	154842348	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttgctgctgctgctgctgCtgctgctcatccccagagga	4	12	12	13	0	1	1	1	0	0	1	2	2	2	2	2	1	8	9	2	1	0	1			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr1:154842348C>T	uc021pah.1	-	0	407	c.93G>A	c.(91-93)caG>caA	p.Q31Q	KCNN3_uc001ffp.3_Silent_p.Q31Q|KCNN3_uc009wox.1_Silent_p.Q31Q	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.	31	Poly-Gln.					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)			gctgctgctgctgctgctCAT	0.672													3	6					0	0	0.115264	0	0	T	154842348	C	T	154842348	2	4	80	1	0	0	0	0	0	0	0	1	8080	796	28	3		3	KCNN3	1	154842348	Silent	SNP	C	TCGA-DU-6410-01A-11D-1893-08	1096883	154842348	94408273	6	3422											
FMN2	56776	broad.mit.edu	37	chr1	240371098	240371098	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcccccacttcccggagcgGgcataccccctccgccccca	5	5	7	24	3	0	0	0	0	0	0	3	1	3	1	8	2	2	1	8	2	1	2			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr1:240371098G>A	uc010pye.2	+	5	3223	c.2998G>A	c.(2998-3000)Ggc>Agc	p.G1000S	FMN2_uc010pyd.2_Missense_Mutation_p.G996S	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	996	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCCCGGAGCGGGCATACCCCC	0.706													3	40					0	0	0.115264	0	0	A	240371098	G	A	240371098	3	1	80	1	0	0	0	0	1	0	0	0	5950	1232	43	3	3004	3	FMN2	1	240371098	Missense_Mutation	SNP	G	TCGA-DU-6410-01A-11D-1893-08	85528750	240371098	8879523	7	3423											
EDAR	10913	broad.mit.edu	37	chr2	109539871	109539871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcaggagtagcagaccatgCcatagatgttcctcggtctg	9	9	13	10	1	1	2	0	0	1	2	3	3	2	3	3	3	2	4	3	3	2	3			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr2:109539871C>T	uc010fjn.3	-	5	942	c.395G>A	c.(394-396)gGc>gAc	p.G132D	EDAR_uc010yws.2_Missense_Mutation_p.G132D|EDAR_uc002teq.4_Missense_Mutation_p.G132D	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	132					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GCAGACCATGCCATAGATGTT	0.542													52	74					0	0	0.870114	0	0	T	109539871	C	T	109539871	3	4	80	1	0	0	0	0	1	0	0	0	4905	739	26	3	983	3	EDAR	2	109539871	Missense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08		109539871	133659502	8	3424											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								25	40					0	0	0.706142	0	0	T	209113112	C	T	209113112	3	4	80	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08	99573241	209113112	34086261	9	3425											
TATDN2	9797	broad.mit.edu	37	chr3	10291133	10291135	+	In_Frame_Del	DEL	CTT	CTT	-																															agaaataactcctcctcctcCttctccccacatttcttggg																								rs148201381		TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr3:10291133_10291135delCTT	uc011atr.2	+	1	830_832	c.249_251delCTT	c.(247-252)tccttc>tcc	p.F84del	TATDN2_uc003bvg.2_In_Frame_Del_p.F84del|TATDN2_uc003bvf.3_In_Frame_Del_p.F84del|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript	NM_014760	NP_055575	Q93075	TATD2_HUMAN	Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.	84						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	p.F84fs*19(2)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CCTCCTCCTCCTTCTCCCCACAT	0.631													61	334	---	---	---	---						-	10291135	CTT	-	10291133	7	5	80	1	0	1	0	1	0	0	0	0	15589	668	24	0	251	0	TATDN2	3	10291133	In_Frame_Del	DEL	CTT	TCGA-DU-6410-01A-11D-1893-08		10291133	187731297	10	3426											
EPHA3	2042	broad.mit.edu	37	chr3	89498454	89498454	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcagccagcgatgtatggaGttatgggattgttctctggg	7	13	15	6	1	2	0	1	0	1	0	3	3	2	2	1	3	2	3	1	3	2	4			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr3:89498454G>T	uc003dqy.3	+	13	2651	c.2426G>T	c.(2425-2427)aGt>aTt	p.S809I	EPHA3_uc021xbf.1_Missense_Mutation_p.S809I	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	809	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GATGTATGGAGTTATGGGATT	0.448										TSP Lung(6;0.00050)			53	66					3.73128e-16	4.01289e-16	0.870114	1	0	T	89498454	G	T	89498454	3	4	80	1	0	0	0	0	1	0	0	0	5168	1029	36	5	2506	5	EPHA3	3	89498454	Missense_Mutation	SNP	G	TCGA-DU-6410-01A-11D-1893-08	79207321	89498454	108523976	11	3427											
HHLA2	11148	broad.mit.edu	37	chr3	108074123	108074123	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtctttggattcttttTctattaacagcccactgaat	9	16	7	9	0	3	1	0	1	3	0	3	2	3	2	1	2	2	0	1	2	3	6			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr3:108074123T>C	uc003dwz.3	+	4	994	c.580T>C	c.(580-582)Tct>Cct	p.S194P	HHLA2_uc011bhl.2_Missense_Mutation_p.S130P|HHLA2_uc010hpu.3_Missense_Mutation_p.S194P|HHLA2_uc003dwy.4_Missense_Mutation_p.S194P	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	194	Ig-like C1-type.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						GGATTCTTTTTCTATTAACAG	0.388													10	71					0	0	0.38729	0	0	C	108074123	T	C	108074123	3	2	80	1	0	0	0	0	1	0	0	0	7095	1783	62	3	590	3	HHLA2	3	108074123	Missense_Mutation	SNP	T	TCGA-DU-6410-01A-11D-1893-08	18575669	108074123	89948307	12	3428											
MUC4	4585	broad.mit.edu	37	chr3	195515511	195515511	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggatgccgaggaagcgtaGgtgacaggaagaggggtggc	10	5	21	5	2	0	2	0	1	0	1	0	6	0	5	1	7	2	1	1	7	3	1			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr3:195515511G>A	uc021xjp.1	-	1	3096	c.2940C>T	c.(2938-2940)acC>acT	p.T980T	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	985	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGCGTAGGTGACAGGAA	0.572													9	24					0	0	0.38729	0	0	A	195515511	G	A	195515511	2	1	80	1	0	0	0	0	0	0	0	1	9978	987	35	3		3	MUC4	3	195515511	Silent	SNP	G	TCGA-DU-6410-01A-11D-1893-08	87441388	195515511	2506919	13	3429											
RBPJ	3516	broad.mit.edu	37	chr4	26422326	26422326	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaccttccaaaaagaagCagtcattgaaaaatgctgac	18	7	6	10	0	1	3	1	2	0	1	2	3	2	3	3	0	3	2	3	0	6	2			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr4:26422326C>T	uc003grx.2	+	5	750	c.514C>T	c.(514-516)Cag>Tag	p.Q172*	RBPJ_uc003gry.2_Nonsense_Mutation_p.Q157*|RBPJ_uc003grz.2_Nonsense_Mutation_p.Q172*|RBPJ_uc011bxt.2_Nonsense_Mutation_p.Q172*|RBPJ_uc003gsa.2_Nonsense_Mutation_p.Q158*|RBPJ_uc003gsb.2_Nonsense_Mutation_p.Q159*	NM_005349	NP_005340	Q06330	SUH_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region (RBPJ), transcript variant 1, mRNA.	172					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				CAAAAAGAAGCAGTCATTGAA	0.363													24	3					0	0	0.667858	0	0	T	26422326	C	T	26422326	4	4	80	1	0	0	0	0	0	1	0	0	13161	711	25	3	595	3	RBPJ	4	26422326	Nonsense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08		26422326	164731950	14	3430											
ALB	213	broad.mit.edu	37	chr4	74280861	74280861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agtgctgtgccgctgcagatCctcatgaatgctatgccaaa	10	10	10	11	1	1	2	1	1	0	1	2	2	2	2	3	0	5	4	3	0	3	1	rs141343001		TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr4:74280861C>T	uc003hgs.4	+	8	1241	c.1168C>T	c.(1168-1170)Cct>Tct	p.P390S	ALB_uc011cbe.2_Missense_Mutation_p.P69S|ALB_uc003hgw.4_Missense_Mutation_p.P198S|ALB_uc011cbf.2_Missense_Mutation_p.P280S	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	390	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	p.P390S(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	CGCTGCAGATCCTCATGAATG	0.398													40	5					0	0	0.847076	0	0	T	74280861	C	T	74280861	3	4	80	1	0	0	0	0	1	0	0	0	486	855	30	3	1202	3	ALB	4	74280861	Missense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08	47858535	74280861	116873415	15	3431											
TARS	6897	broad.mit.edu	37	chr5	33445453	33445453	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgctggtgaagagaagcaAaaggaaggaggcaaaaagaa	19	3	16	3	0	0	3	0	1	0	2	0	6	0	5	0	5	2	3	0	5	8	0			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr5:33445453A>G	uc003jhy.3	+	1	376	c.81A>G	c.(79-81)caA>caG	p.Q27Q	TARS_uc010iup.1_5'UTR|TARS_uc011coc.2_Silent_p.Q15Q|TARS_uc003jhz.3_5'UTR|TARS_uc011cod.2_5'UTR	NM_152295	NP_689508	P26639	SYTC_HUMAN	Homo sapiens threonyl-tRNA synthetase (TARS), mRNA.	27					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	AAGAGAAGCAAAAGGAAGGAG	0.423													4	16					0	0	0.150653	0	0	G	33445453	A	G	33445453	2	3	80	1	0	0	0	0	0	0	0	1	15556	11	1	3		3	TARS	5	33445453	Silent	SNP	A	TCGA-DU-6410-01A-11D-1893-08		33445453	147469807	16	3432											
MATR3	9782	broad.mit.edu	37	chr5	138643853	138643853	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcataaatttgacagtgagtAtgagagaatgggacgtggtc	13	11	13	4	1	1	4	1	3	0	1	2	6	1	5	0	2	0	1	0	2	4	3			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr5:138643853A>G	uc003ldw.3	+	2	1152	c.749A>G	c.(748-750)tAt>tGt	p.Y250C	MATR3_uc003lds.3_Missense_Mutation_p.Y250C|MATR3_uc003ldt.3_Intron|MATR3_uc003ldu.3_Missense_Mutation_p.Y250C|MATR3_uc010jfb.3_Missense_Mutation_p.Y250C|MATR3_uc003ldx.3_Missense_Mutation_p.Y250C|MATR3_uc003ldy.3_Intron|MATR3_uc003ldz.3_Missense_Mutation_p.Y250C|MATR3_uc011czb.2_Intron	NM_018834	NP_954659	P43243	MATR3_HUMAN	Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA.	250						nuclear inner membrane|nuclear matrix	RNA binding|nucleotide binding|protein binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GACAGTGAGTATGAGAGAATG	0.418													22	58					0	0	0.624587	0	0	G	138643853	A	G	138643853	3	3	80	1	0	0	0	0	1	0	0	0	9337	449	16	3	751	3	MATR3	5	138643853	Missense_Mutation	SNP	A	TCGA-DU-6410-01A-11D-1893-08	105198400	138643853	42271407	17	3433											
EHMT2	10919	broad.mit.edu	37	chr6	31856769	31856769	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtggttgggggagagggtcCcctcgctgggcagctccagg	4	7	19	11	2	0	1	0	0	0	1	3	2	2	1	3	6	1	4	3	6	0	1			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr6:31856769C>T	uc003nxz.1	-	9	1203	c.1193G>A	c.(1192-1194)gGg>gAg	p.G398E	EHMT2_uc003nxy.1_Missense_Mutation_p.G189E|EHMT2_uc011don.1_Intron|EHMT2_uc003nya.1_Intron	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	398					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GGAGAGGGTCCCCTCGCTGGG	0.632													14	11					0	0	0.520397	0	0	T	31856769	C	T	31856769	3	4	80	1	0	0	0	0	1	0	0	0	4984	623	22	3	2515	3	EHMT2	6	31856769	Missense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08		31856769	139258298	18	3434											
MTO1	25821	broad.mit.edu	37	chr6	74191908	74191908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataccgcatgtttaccagccGagtagagttccgtttgtcac	9	12	9	11	3	1	1	1	0	0	1	2	2	2	1	4	0	3	5	4	0	3	6			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr6:74191908G>A	uc010kav.3	+	8	1650	c.1526G>A	c.(1525-1527)cGa>cAa	p.R509Q	MTO1_uc003pgy.4_Missense_Mutation_p.R494Q|MTO1_uc003pgz.4_Missense_Mutation_p.R469Q|MTO1_uc003pha.4_Missense_Mutation_p.R131Q|MTO1_uc003phb.4_Missense_Mutation_p.R420Q	NM_001123226	NP_001116698	Q9Y2Z2	MTO1_HUMAN	Homo sapiens mitochondrial translation optimization 1 homolog (S. cerevisiae) (MTO1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	494					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						TTTACCAGCCGAGTAGAGTTC	0.527													7	72					0	0	0.248553	0	0	A	74191908	G	A	74191908	3	1	80	1	0	0	0	0	1	0	0	0	9953	1058	37	2	1639	2	MTO1	6	74191908	Missense_Mutation	SNP	G	TCGA-DU-6410-01A-11D-1893-08	42335139	74191908	96923159	19	3435											
AKD1	221264	broad.mit.edu	37	chr6	109854548	109854548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatttgggcaggaaggaggCgatcaaaaatatcttgatca	15	9	11	6	1	3	1	2	1	1	0	3	4	3	3	0	4	0	1	0	4	5	3			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr6:109854548C>T	uc003ptn.2	-	27	3553	c.3476G>A	c.(3475-3477)cGc>cAc	p.R1159H	AKD1_uc011eat.1_Missense_Mutation_p.R238H	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	1159					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						AGGAAGGAGGCGATCAAAAAT	0.383													34	38					0	0	0.779181	0	0	T	109854548	C	T	109854548	3	4	80	1	0	0	0	0	1	0	0	0	460	768	27	1	2315	1	AKD1	6	109854548	Missense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08	35662640	109854548	61260519	20	3436											
KIAA1244	57221	broad.mit.edu	37	chr6	138657616	138657616	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggccgtgtctatgacatcaTtgtgtagccgactcctgttc	6	13	11	11	2	2	1	1	1	1	0	4	2	3	1	3	1	1	2	3	1	2	4			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr6:138657616T>C	uc003qhu.3	+	33	6698	c.6527T>C	c.(6526-6528)aTt>aCt	p.I2176T		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	2176					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TATGACATCATTGTGTAGCCG	0.552													39	42					0	0	0.796494	0	0	C	138657616	T	C	138657616	3	2	80	1	0	0	0	0	1	0	0	0	8217	1493	52	3	6661	3	KIAA1244	6	138657616	Missense_Mutation	SNP	T	TCGA-DU-6410-01A-11D-1893-08	28803068	138657616	32457451	21	3437											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr7:55221822C>T	uc003tqk.3	+	6	1112	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			6	106					0	0	0.217242	0	0	T	55221822	C	T	55221822	3	4	80	1	0	0	0	0	1	0	0	0	4967	739	26	3	892	3	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08		55221822	103916841	22	3438											
CASD1	64921	broad.mit.edu	37	chr7	94163000	94163000	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctttttagtggtccatcAagattcacaatggtagcagt	10	15	8	8	0	3	1	2	0	1	1	4	1	4	1	1	2	1	2	1	2	4	6			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr7:94163000A>G	uc003uni.4	+	6	741	c.514A>G	c.(514-516)Aag>Gag	p.K172E	CASD1_uc003unh.2_Missense_Mutation_p.K172E|CASD1_uc003unj.4_Missense_Mutation_p.K172E	NM_022900	NP_075051	Q96PB1	CASD1_HUMAN	Homo sapiens CAS1 domain containing 1 (CASD1), mRNA.	172						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GTGGTCCATCAAGATTCACAA	0.294													26	54					0	0	0.681144	0	0	G	94163000	A	G	94163000	3	3	80	1	0	0	0	0	1	0	0	0	2664	131	5	3	540	3	CASD1	7	94163000	Missense_Mutation	SNP	A	TCGA-DU-6410-01A-11D-1893-08	38941178	94163000	64975663	23	3439											
CFTR	1080	broad.mit.edu	37	chr7	117304899	117304899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcttgatgaacccagtgCtcatttggatccagtgtgag	8	12	12	9	0	1	3	1	3	0	0	2	4	2	4	2	1	3	3	2	1	1	2	rs115147093	by1000genomes	TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr7:117304899C>T	uc003vjd.3	+	24	4253	c.4121C>T	c.(4120-4122)gCt>gTt	p.A1374V	CFTR_uc011knq.2_Missense_Mutation_p.A780V	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	1374	ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GAACCCAGTGCTCATTTGGAT	0.453									Cystic Fibrosis				63	215					0	0	0.870114	0	0	T	117304899	C	T	117304899	3	4	80	1	0	0	0	0	1	0	0	0	3294	797	28	3	4219	3	CFTR	7	117304899	Missense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08	23141899	117304899	41833764	24	3440											
KLHL38	340359	broad.mit.edu	37	chr8	124664667	124664667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttcaggtcggccgatgcgGccacctctgggaaggacgtc	6	7	14	14	4	2	0	1	0	1	0	4	3	2	2	4	5	1	0	4	5	1	1			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr8:124664667G>A	uc003yqs.1	-	0	524	c.500C>T	c.(499-501)gCc>gTc	p.A167V		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA.	167	BACK.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GGCCGATGCGGCCACCTCTGG	0.567													59	61					0	0	0.870114	0	0	A	124664667	G	A	124664667	3	1	80	1	0	0	0	0	1	0	0	0	8390	1203	42	3	1257	3	KLHL38	8	124664667	Missense_Mutation	SNP	G	TCGA-DU-6410-01A-11D-1893-08		124664667	21699355	25	3441											
FUBP3	8939	broad.mit.edu	37	chr9	133506050	133506050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagcatcaaccagcagtcaGgggcgcacgtggagcttcag	12	5	13	11	2	3	0	3	0	0	0	3	1	3	1	1	3	4	4	1	3	2	1			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr9:133506050G>A	uc004bzr.1	+	12	1261	c.1153G>A	c.(1153-1155)Ggg>Agg	p.G385R		NM_003934	NP_003925	Q96I24	FUBP3_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 3 (FUBP3), mRNA.	385	KH 4.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		CCAGCAGTCAGGGGCGCACGT	0.612													37	60					0	0	0.827153	0	0	A	133506050	G	A	133506050	3	1	80	1	0	0	0	0	1	0	0	0	6093	1000	35	3	1203	3	FUBP3	9	133506050	Missense_Mutation	SNP	G	TCGA-DU-6410-01A-11D-1893-08		133506050	7707381	26	3442											
SURF4	6836	broad.mit.edu	37	chr9	136230559	136230559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagagccacacaacaagaGtcaaagcagccagcttggtt	16	5	9	11	0	1	2	1	0	0	2	1	2	1	2	2	1	5	3	2	1	4	2			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr9:136230559G>A	uc004cdj.3	-	5	750	c.620C>T	c.(619-621)aCt>aTt	p.T207I	SURF4_uc011mda.2_Missense_Mutation_p.T198I|SURF4_uc010nal.3_3'UTR|SURF4_uc011mdd.2_3'UTR|SURF4_uc011mdb.2_Missense_Mutation_p.T164I|SURF4_uc011mdc.2_Missense_Mutation_p.T164I	NM_033161	NP_149351	O15260	SURF4_HUMAN	Homo sapiens surfeit 4 (SURF4), mRNA.	207						ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	protein binding			kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		CACAACAAGAGTCAAAGCAGC	0.443													3	47					0	0	0.115264	0	0	A	136230559	G	A	136230559	3	1	80	1	0	0	0	0	1	0	0	0	15402	1029	36	3	193	3	SURF4	9	136230559	Missense_Mutation	SNP	G	TCGA-DU-6410-01A-11D-1893-08	2724509	136230559	4982872	27	3443											
ARMC3	219681	broad.mit.edu	37	chr10	23287189	23287189	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaacatggccatgcaggagCccctgcgcctgaacatacag	12	5	10	14	1	0	1	0	1	0	0	0	2	0	2	4	2	6	1	4	2	3	1			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr10:23287189C>A	uc001irm.4	+	10	1371	c.1288C>A	c.(1288-1290)Ccc>Acc	p.P430T	ARMC3_uc010qcv.2_Missense_Mutation_p.P430T|ARMC3_uc010qcw.2_Missense_Mutation_p.P167T	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	430							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CATGCAGGAGCCCCTGCGCCT	0.493													12	14					6.40141e-05	6.51572e-05	0.38729	1	0	A	23287189	C	A	23287189	3	1	80	1	0	0	0	0	1	0	0	0	952	739	26	5	1326	5	ARMC3	10	23287189	Missense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08		23287189	112247558	28	3444											
APBB1IP	54518	broad.mit.edu	37	chr10	26802585	26802585	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atatgctgtatttaaaaaccCccaggtaagatgatctgcat	14	12	7	8	0	1	2	0	1	1	1	1	2	1	2	2	1	3	4	2	1	6	5			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr10:26802585C>T	uc001iss.3	+	7	1130	c.809C>T	c.(808-810)cCc>cTc	p.P270L	APBB1IP_uc009xks.1_Missense_Mutation_p.P270L	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	270					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TTTAAAAACCCCCAGGTAAGA	0.348													60	79					0	0	0.870114	0	0	T	26802585	C	T	26802585	3	4	80	1	0	0	0	0	1	0	0	0	760	623	22	3	831	3	APBB1IP	10	26802585	Missense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08	3515396	26802585	108732162	29	3445											
HK1	3098	broad.mit.edu	37	chr10	71136763	71136763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagtcaagatggccaaggagGgcctcttatttgaagggcgg	10	9	15	7	1	2	2	1	1	1	1	2	3	2	3	2	5	0	0	2	5	5	3			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr10:71136763G>A	uc001jpl.4	+	7	1050	c.949G>A	c.(949-951)Ggc>Agc	p.G317S	HK1_uc001jpg.4_Missense_Mutation_p.G305S|HK1_uc001jph.4_Missense_Mutation_p.G321S|HK1_uc001jpi.4_Missense_Mutation_p.G321S|HK1_uc001jpj.4_Missense_Mutation_p.G352S|HK1_uc001jpk.4_Missense_Mutation_p.G316S|HK1_uc009xqd.3_Missense_Mutation_p.G195S	NM_000188	NP_000179	P19367	HXK1_HUMAN	Homo sapiens hexokinase 1 (HK1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	317	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GGCCAAGGAGGGCCTCTTATT	0.537													65	74					0	0	0.870114	0	0	A	71136763	G	A	71136763	3	1	80	1	0	0	0	0	1	0	0	0	7190	1232	43	3	1157	3	HK1	10	71136763	Missense_Mutation	SNP	G	TCGA-DU-6410-01A-11D-1893-08	44334178	71136763	64397984	30	3446											
BUB3	9184	broad.mit.edu	37	chr10	124921819	124921821	+	In_Frame_Del	DEL	AGA	AGA	-																															ggacccaagccctgaggtacAgaagaagaagtatgccttca																										TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr10:124921819_124921821delAGA	uc001lhe.2	+	5	886_888	c.644_646delAGA	c.(643-648)cagaag>cag	p.K218del	BUB3_uc009yah.2_In_Frame_Del_p.K170del|BUB3_uc001lhf.4_In_Frame_Del_p.K218del|BUB3_uc001lhd.2_In_Frame_Del_p.K218del|BUB3_uc010qud.1_In_Frame_Del_p.K138del	NM_004725	NP_004716	O43684	BUB3_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 3 homolog (yeast) (BUB3), transcript variant 1, mRNA.	218					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				CCTGAGGTACAGAAGAAGAAGTA	0.389													9	334	---	---	---	---						-	124921821	AGA	-	124921819	7	5	80	1	0	1	0	1	0	0	0	0	1572	188	7	0	662	0	BUB3	10	124921819	In_Frame_Del	DEL	AGA	TCGA-DU-6410-01A-11D-1893-08	53785056	124921819	10612928	31	3447											
ANO5	203859	broad.mit.edu	37	chr11	22271916	22271916	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatggaacataacacaagcAggtaagtgcacctgagttgc	15	7	10	9	0	0	1	0	1	0	0	0	2	0	2	1	2	5	4	1	2	5	3			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr11:22271916A>T	uc001mqi.2	+	10	1330	c.1013_splice	c.e10+1	p.S338_splice	ANO5_uc001mqj.2_Splice_Site_p.S337_splice	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	338						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TAACACAAGCAGGTAAGTGCA	0.363													18	30					0	0	0.557998	0	0	T	22271916	A	T	22271916	5	4	80	1	0	0	0	0	0	0	1	0	700	202	7	5	1050	5	ANO5	11	22271916	Splice_Site	SNP	A	TCGA-DU-6410-01A-11D-1893-08		22271916	112734600	32	3448											
MUC15	143662	broad.mit.edu	37	chr11	26584807	26584807	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatactattcctgtatttcTattttctacaggacaaaaaa	15	15	4	7	0	2	0	0	0	2	0	3	2	3	1	1	1	2	1	1	1	9	9			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr11:26584807T>C	uc001mqw.3	-	3	1054	c.781A>G	c.(781-783)Aga>Gga	p.R261G	ANO3_uc010rdr.2_Intron|ANO3_uc001mqt.4_Intron|ANO3_uc010rds.2_Intron|ANO3_uc010rdt.2_Intron|MUC15_uc001mqx.3_Missense_Mutation_p.R234G|MUC15_uc001mqy.3_Intron	NM_001135091	NP_663625	Q8N387	MUC15_HUMAN	Homo sapiens mucin 15, cell surface associated (MUC15), transcript variant 1, mRNA.	234						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						CCTGTATTTCTATTTTCTACA	0.328													6	53					0	0	0.217242	0	0	C	26584807	T	C	26584807	3	2	80	1	0	0	0	0	1	0	0	0	9972	1530	53	4	312	4	MUC15	11	26584807	Missense_Mutation	SNP	T	TCGA-DU-6410-01A-11D-1893-08	4312891	26584807	108421709	33	3449											
MARK2	2011	broad.mit.edu	37	chr11	63667348	63667348	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccatcttacctcccaggcAgaaaacctgctcttggatgc	9	11	7	14	0	2	1	0	0	2	1	4	2	4	2	4	2	4	2	4	2	3	3			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr11:63667348A>G	uc001nxw.3	+	7	1113	c.534A>G	c.(532-534)gcA>gcG	p.A178A	MARK2_uc001nxv.4_Silent_p.A178A|MARK2_uc001nxx.3_Silent_p.A178A|MARK2_uc001nxy.3_Silent_p.A178A|MARK2_uc001nxz.4_Silent_p.A145A|MARK2_uc009yoy.3_Silent_p.A145A	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.	178	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CCTCCCAGGCAGAAAACCTGC	0.498													153	165					0	0	0.870114	0	0	G	63667348	A	G	63667348	2	3	80	1	0	0	0	0	0	0	0	1	9313	175	7	4		4	MARK2	11	63667348	Silent	SNP	A	TCGA-DU-6410-01A-11D-1893-08	37082541	63667348	71339168	34	3450											
SCYL1	57410	broad.mit.edu	37	chr11	65303494	65303494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttgcaccgtcccgggttgCgggtgtcctgggctttgctg	1	13	16	11	3	0	0	0	0	0	0	2	0	2	0	3	3	3	5	3	3	0	3			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr11:65303494C>T	uc001oea.1	+	10	1534	c.1457C>T	c.(1456-1458)gCg>gTg	p.A486V	SCYL1_uc009yqk.3_Missense_Mutation_p.A486V|SCYL1_uc001oeb.1_Missense_Mutation_p.A486V|SCYL1_uc001oec.1_Missense_Mutation_p.A486V|SCYL1_uc001oee.1_Missense_Mutation_p.A130V	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	Homo sapiens SCY1-like 1 (S. cerevisiae) (SCYL1), transcript variant A, mRNA.	486					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	COPI vesicle coat|ER-Golgi intermediate compartment|cis-Golgi network|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						TCCCGGGTTGCGGGTGTCCTG	0.597													28	51					0	0	0.717897	0	0	T	65303494	C	T	65303494	3	4	80	1	0	0	0	0	1	0	0	0	13947	768	27	1	1499	1	SCYL1	11	65303494	Missense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08	1636146	65303494	69703022	35	3451											
PTPRB	5787	broad.mit.edu	37	chr12	70980859	70980859	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgtagccatgtattttcGtccaggcaccaggtcagtaa	10	11	10	10	1	1	0	1	0	0	0	3	1	2	0	3	2	1	4	3	2	3	5			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr12:70980859G>A	uc001swb.4	-	6	1615	c.1585C>T	c.(1585-1587)Cga>Tga	p.R529*	PTPRB_uc010sto.2_Nonsense_Mutation_p.R529*|PTPRB_uc010stp.2_Nonsense_Mutation_p.R439*|PTPRB_uc001swc.4_Nonsense_Mutation_p.R747*|PTPRB_uc001swa.4_Nonsense_Mutation_p.R747*|PTPRB_uc001swd.4_Nonsense_Mutation_p.R746*|PTPRB_uc009zrr.2_Nonsense_Mutation_p.R626*	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	529	Fibronectin type-III 6.				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)			ATGTATTTTCGTCCAGGCACC	0.378													55	53					0	0	0.870114	0	0	A	70980859	G	A	70980859	4	1	80	1	0	0	0	0	0	1	0	0	12796	1153	40	1	4512	1	PTPRB	12	70980859	Nonsense_Mutation	SNP	G	TCGA-DU-6410-01A-11D-1893-08		70980859	62871036	36	3452											
OR4K17	390436	broad.mit.edu	37	chr14	20586367	20586367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctactgggcaatctaaagccCgttccactttgactgctcac	9	11	7	14	1	2	1	1	1	1	0	3	1	3	1	2	1	3	3	2	1	4	4			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr14:20586367C>T	uc001vwo.1	+	0	802	c.802C>T	c.(802-804)Cgt>Tgt	p.R268C		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R268L(1)		kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ATCTAAAGCCCGTTCCACTTT	0.438													48	53					0	0	0.870114	0	0	T	20586367	C	T	20586367	3	4	80	1	0	0	0	0	1	0	0	0	11071	652	23	2	804	2	OR4K17	14	20586367	Missense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08		20586367	86763173	37	3453											
USP7	7874	broad.mit.edu	37	chr16	9000424	9000424	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattcatcaagtggtaactgCtctgggaattcaaacctatt	13	13	7	8	0	4	0	3	0	1	0	4	1	4	1	1	2	3	2	1	2	6	5			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr16:9000424C>T	uc002czl.2	-	12	1486	c.1287G>A	c.(1285-1287)gaG>gaA	p.E429E	USP7_uc010uyk.1_Silent_p.E330E|USP7_uc010uyj.1_Silent_p.E330E|USP7_uc002czk.2_Silent_p.E413E|USP7_uc010uyl.1_Non-coding_Transcript	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	429					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	PML body|cytoplasm	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GTGGTAACTGCTCTGGGAATT	0.318													37	36					0	0	0.804634	0	0	T	9000424	C	T	9000424	2	4	80	1	0	0	0	0	0	0	0	1	17085	796	28	3		3	USP7	16	9000424	Silent	SNP	C	TCGA-DU-6410-01A-11D-1893-08		9000424	81354329	38	3454											
MYH4	4622	broad.mit.edu	37	chr17	10350515	10350515	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttggcctctgatggcatcatCcaaatgtagctgagtgtcct	8	13	10	10	0	2	2	1	2	1	0	4	2	4	2	3	2	1	3	3	2	2	2			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr17:10350515C>A	uc002gmn.3	-	34	5095	c.4984G>T	c.(4984-4986)Gat>Tat	p.D1662Y	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1662					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ATGGCATCATCCAAATGTAGC	0.453													25	40					3.01185e-09	3.17917e-09	0.667858	1	0	A	10350515	C	A	10350515	3	1	80	1	0	0	0	0	1	0	0	0	10037	855	30	5	859	5	MYH4	17	10350515	Missense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08		10350515	70844695	39	3455											
KRT25	147183	broad.mit.edu	37	chr17	38906790	38906790	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgatctgagcctggatctgCgccagctgcgcacagtagtt	7	9	12	13	3	2	1	0	1	2	0	2	3	2	2	3	1	4	4	3	1	1	2			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr17:38906790C>T	uc002hve.3	-	5	1078	c.1017G>A	c.(1015-1017)gcG>gcA	p.A339A		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	Homo sapiens keratin 25 (KRT25), mRNA.	339	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.A339A(4)|p.A339V(1)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CCTGGATCTGCGCCAGCTGCG	0.562													113	148					0	0	0.870114	0	0	T	38906790	C	T	38906790	2	4	80	1	0	0	0	0	0	0	0	1	8462	755	27	1		1	KRT25	17	38906790	Silent	SNP	C	TCGA-DU-6410-01A-11D-1893-08	28556275	38906790	42288420	40	3456											
UTP18	51096	broad.mit.edu	37	chr17	49371388	49371388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgccttggggaatgaaaaggGcaaggccctgatgtataggt	11	9	15	6	0	0	2	0	2	0	0	0	3	0	3	2	5	1	2	2	5	6	3			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr17:49371388G>A	uc002its.3	+	11	1677	c.1628G>A	c.(1627-1629)gGc>gAc	p.G543D		NM_016001	NP_057085	Q9Y5J1	UTP18_HUMAN	Homo sapiens UTP18 small subunit (SSU) processome component homolog (yeast) (UTP18), mRNA.	543				GKALMYRLHHYSDF -> ARP (in Ref. 1; AAD34043).	rRNA processing	nucleolus				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			AATGAAAAGGGCAAGGCCCTG	0.333													24	30					0	0	0.693898	0	0	A	49371388	G	A	49371388	3	1	80	1	0	0	0	0	1	0	0	0	17095	1203	42	3	1674	3	UTP18	17	49371388	Missense_Mutation	SNP	G	TCGA-DU-6410-01A-11D-1893-08	10464598	49371388	31823822	41	3457											
RNF213	57674	broad.mit.edu	37	chr17	78320934	78320934	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtccaagggtactttgcGtcctttgccaaagcctacga	9	10	10	12	3	0	0	0	0	0	0	2	2	2	0	4	1	5	1	4	1	4	4	rs141391616		TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr17:78320934G>A	uc002jyh.2	+	29	9089	c.8946G>A	c.(8944-8946)gcG>gcA	p.A2982A	RNF213_uc021uen.1_Silent_p.A2933A	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0								p.A1006A(1)|p.A2982A(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGTACTTTGCGTCCTTTGCCA	0.547													28	23					0	0	0.717897	0	0	A	78320934	G	A	78320934	2	1	80	1	0	0	0	0	0	0	0	1	13477	1132	40	1		1	RNF213	17	78320934	Silent	SNP	G	TCGA-DU-6410-01A-11D-1893-08	28949546	78320934	2874276	42	3458											
ZNF71	58491	broad.mit.edu	37	chr19	57133636	57133636	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accggcgagaagccctacgtGtgcggcgagtgcggcaaggc	8	4	17	12	6	0	1	0	0	0	1	0	3	0	1	2	4	4	1	2	4	3	1			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr19:57133636G>A	uc002qnm.4	+	2	1219	c.981G>A	c.(979-981)gtG>gtA	p.V327V	ZNF71_uc021vcg.1_Silent_p.V327V	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	327						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		AGCCCTACGTGTGCGGCGAGT	0.642													27	41					0	0	0.740014	0	0	A	57133636	G	A	57133636	2	1	80	1	0	0	0	0	0	0	0	1	18111	1364	48	3		3	ZNF71	19	57133636	Silent	SNP	G	TCGA-DU-6410-01A-11D-1893-08		57133636	1995347	43	3459											
ENTPD6	955	broad.mit.edu	37	chr20	25201921	25201921	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtctcccagtttcaaaggaGagtgggaacacgcagaagtc	12	8	12	9	1	2	2	1	0	1	2	4	4	2	3	1	2	1	2	1	2	3	1			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr20:25201921G>C	uc002wuj.2	+	10	1177	c.997G>C	c.(997-999)Gag>Cag	p.E333Q	ENTPD6_uc010zsy.1_Missense_Mutation_p.E333Q|ENTPD6_uc010gdj.1_Missense_Mutation_p.E305Q|ENTPD6_uc002wum.2_Missense_Mutation_p.E316Q|ENTPD6_uc010zta.1_Missense_Mutation_p.E333Q|ENTPD6_uc002wuk.2_Missense_Mutation_p.E332Q|ENTPD6_uc002wul.2_Missense_Mutation_p.E332Q|ENTPD6_uc010ztb.1_Missense_Mutation_p.E305Q|ENTPD6_uc010ztc.1_Missense_Mutation_p.E305Q|ENTPD6_uc002wuo.2_Missense_Mutation_p.E85Q|ENTPD6_uc010zsz.1_Missense_Mutation_p.E115Q|ENTPD6_uc010ztd.1_Intron|ENTPD6_uc010gdl.1_5'Flank|ENTPD6_uc010gdk.1_5'Flank	NM_001247	NP_001238	O75354	ENTP6_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 6 (putative) (ENTPD6), transcript variant 1, mRNA.	333						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	p.G332V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						TTTCAAAGGAGAGTGGGAACA	0.517													5	105					0	0	0.248553	0	0	C	25201921	G	C	25201921	3	2	80	1	0	0	0	0	1	0	0	0	5143	943	33	5	1042	5	ENTPD6	20	25201921	Missense_Mutation	SNP	G	TCGA-DU-6410-01A-11D-1893-08		25201921	37823599	44	3460											
DIP2A	23181	broad.mit.edu	37	chr21	47952057	47952057	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggtggcgctcgtgtttccGaatagtgaccctgtgatgtt	6	14	13	8	3	0	2	0	2	0	0	2	3	1	2	2	2	0	3	2	2	3	4			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr21:47952057G>T	uc002zjo.2	+	9	1395	c.1212G>T	c.(1210-1212)ccG>ccT	p.P404P	DIP2A_uc011afy.1_Silent_p.P340P|DIP2A_uc011afz.1_Silent_p.P400P|DIP2A_uc002zjl.3_Silent_p.P404P|DIP2A_uc002zjm.3_Silent_p.P404P|DIP2A_uc010gql.3_Silent_p.P361P|DIP2A_uc002zjn.3_Silent_p.P404P|DIP2A_uc002zjp.1_Silent_p.P149P	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	404					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TCGTGTTTCCGAATAGTGACC	0.378													18	28					2.94398e-08	3.05104e-08	0.557998	1	0	T	47952057	G	T	47952057	2	4	80	1	0	0	0	0	0	0	0	1	4527	1045	37	5		5	DIP2A	21	47952057	Silent	SNP	G	TCGA-DU-6410-01A-11D-1893-08		47952057	177838	45	3461											
DDX17	10521	broad.mit.edu	37	chr22	38890947	38890947	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccccatatcaagcattcTgtcagcttcgtccaatacaa	14	10	4	13	1	3	0	2	0	1	0	5	0	4	0	3	0	4	2	3	0	6	4			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr22:38890947T>C	uc003avy.4	-	6	1088	c.985A>G	c.(985-987)Aga>Gga	p.R329G	DDX17_uc003avx.4_Missense_Mutation_p.R329G|DDX17_uc011anu.2_Missense_Mutation_p.R242G	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	250	Helicase C-terminal.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TCAAGCATTCTGTCAGCTTCG	0.428													50	80					0	0	0.870114	0	0	C	38890947	T	C	38890947	3	2	80	1	0	0	0	0	1	0	0	0	4344	1588	55	4	1238	4	DDX17	22	38890947	Missense_Mutation	SNP	T	TCGA-DU-6410-01A-11D-1893-08		38890947	12413619	46	3462											
USP9X	8239	broad.mit.edu	37	chrX	41057788	41057788	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcaactttttaggaattaaTtgatgatttcatatttcctg	11	20	5	5	0	2	2	2	2	0	0	3	3	3	3	1	1	1	0	1	1	5	9			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chrX:41057788T>C	uc004dfb.3	+	29	5021	c.4388T>C	c.(4387-4389)aTt>aCt	p.I1463T	USP9X_uc004dfc.3_Missense_Mutation_p.I1463T	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1463					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TAGGAATTAATTGATGATTTC	0.318													21	2					0	0	0.608945	0	0	C	41057788	T	C	41057788	3	2	80	1	0	0	0	0	1	0	0	0	17087	1493	52	3	4502	3	USP9X	23	41057788	Missense_Mutation	SNP	T	TCGA-DU-6410-01A-11D-1893-08		41057788	114212772	47	3463											
SLC2A5	6518	broad.mit.edu	37	chr1	9100209	9100209	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagaaggagctgcagcGccgcggggaccccggtcagc	8	2	17	14	4	1	1	1	0	0	1	1	3	1	3	3	4	5	4	3	4	1	0			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr1:9100209G>C	uc001apo.3	-	5	903	c.611C>G	c.(610-612)gCg>gGg	p.A204G	SLC2A5_uc010nzy.2_Missense_Mutation_p.A145G|SLC2A5_uc010nzz.2_Missense_Mutation_p.A89G|SLC2A5_uc010oaa.2_Missense_Mutation_p.A160G	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	204					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCTGCAGCGCCGCGGGGAC	0.677													2	6					0	0	0.115264	0	0	C	9100209	G	C	9100209	3	2	81	1	0	0	0	0	1	0	0	0	14548	1087	38	5	922	5	SLC2A5	1	9100209	Missense_Mutation	SNP	G	TCGA-DU-6542-01A-11D-1893-08		9100209	240150412	1	3464											
CLCN6	1185	broad.mit.edu	37	chr1	11883807	11883810	+	Frame_Shift_Del	DEL	TGAA	TGAA	-																															acccgaggtcaaatgctatcTgaatggcgtaaaggtgccag																										TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr1:11883807_11883810delTGAA	uc001ate.4	+	6	610_613	c.497_500delTGAA	c.(496-501)ctgaatfs	p.L166fs	CLCN6_uc009vnf.1_Frame_Shift_Del_p.L166fs|CLCN6_uc009vng.1_Frame_Shift_Del_p.L166fs|CLCN6_uc009vnh.1_Frame_Shift_Del_p.L166fs|CLCN6_uc010oat.2_5'UTR|CLCN6_uc010oau.2_Frame_Shift_Del_p.L144fs	NM_001286	NP_001277	P51797	CLCN6_HUMAN	Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.	166					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AAATGCTATCTGAATGGCGTAAAG	0.554													29	79	---	---	---	---						-	11883810	TGAA	-	11883807	7	5	81	1	0	1	0	1	0	0	0	0	3467	1580	55	0	523	0	CLCN6	1	11883807	Frame_Shift_Del	DEL	TGAA	TCGA-DU-6542-01A-11D-1893-08	2783598	11883807	237366814	2	3465											
PLA2G2D	26279	broad.mit.edu	37	chr1	20442002	20442002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaggtctgcgtactcacagCagtggatgttcccctgggaa	8	10	13	10	1	2	1	1	1	1	0	3	3	3	3	2	3	3	3	2	3	2	2			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr1:20442002C>T	uc001bcz.3	-	2	307	c.290G>A	c.(289-291)tGc>tAc	p.C97Y	PLA2G2D_uc009vpo.3_Intron	NM_012400	NP_036532	Q9UNK4	PA2GD_HUMAN	Homo sapiens phospholipase A2, group IID (PLA2G2D), mRNA.	97					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTACTCACAGCAGTGGATGTT	0.547										Multiple Myeloma(11;0.12)			28	44					0	0	0.144211	0	0	T	20442002	C	T	20442002	3	4	81	1	0	0	0	0	1	0	0	0	11997	710	25	3	155	3	PLA2G2D	1	20442002	Missense_Mutation	SNP	C	TCGA-DU-6542-01A-11D-1893-08	8558195	20442002	228808619	3	3466											
INADL	10207	broad.mit.edu	37	chr1	62586854	62586854	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccctgggtctttctttcaggGtagtcagcagagtgcacaca	8	11	11	11	0	4	1	2	0	2	1	4	1	4	1	1	2	2	3	1	2	1	3			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr1:62586854G>A	uc001dab.3	+	38	5005	c.4891_splice	c.e38-1	p.G1631_splice	INADL_uc001dac.3_Intron|INADL_uc009wag.3_Splice_Site_p.G415_splice	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1631					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TTCTTTCAGGGTAGTCAGCAG	0.493													44	76					0	0	0.139131	0	0	A	62586854	G	A	62586854	5	1	81	1	0	0	0	0	0	0	1	0	7731	1275	44	3	5038	3	INADL	1	62586854	Splice_Site	SNP	G	TCGA-DU-6542-01A-11D-1893-08	42144852	62586854	186663767	4	3467											
SELP	6403	broad.mit.edu	37	chr1	169581487	169581487	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggctggggctgtccataccCccgaggctgtgcattgcacc	5	8	14	14	1	0	0	0	0	0	0	1	1	1	0	4	4	3	5	4	4	1	2			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr1:169581487C>A	uc001ggi.4	-	5	994	c.929G>T	c.(928-930)gGg>gTg	p.G310V	SELP_uc001ggh.3_Missense_Mutation_p.G145V|SELP_uc009wvr.3_Missense_Mutation_p.G310V	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	310	Sushi 2.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TGTCCATACCCCCGAGGCTGT	0.488													5	102					5.9392e-07	7.18956e-07	0.217242	1	0	A	169581487	C	A	169581487	3	1	81	1	0	0	0	0	1	0	0	0	14019	623	22	5	1607	5	SELP	1	169581487	Missense_Mutation	SNP	C	TCGA-DU-6542-01A-11D-1893-08	106994633	169581487	79669134	5	3468											
TNN	63923	broad.mit.edu	37	chr1	175046809	175046809	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaggaacagaacatcatCttcaggcacaacatccgcct	14	6	9	12	1	3	1	2	0	1	1	4	3	4	3	2	3	3	1	2	3	3	1			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr1:175046809C>A	uc001gkl.1	+	1	368	c.255C>A	c.(253-255)atC>atA	p.I85I	TNN_uc010pmx.1_Silent_p.I85I	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	85					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGAACATCATCTTCAGGCACA	0.607													26	34					6.32553e-13	8.31355e-13	0.099896	1	0	A	175046809	C	A	175046809	2	1	81	1	0	0	0	0	0	0	0	1	16320	903	32	5		5	TNN	1	175046809	Silent	SNP	C	TCGA-DU-6542-01A-11D-1893-08	5465322	175046809	74203812	6	3469											
HMCN1	83872	broad.mit.edu	37	chr1	186045567	186045567	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcctccatagttcctccAagttttcagaaactctggga	9	14	6	12	0	2	1	1	0	1	1	6	2	6	2	4	1	1	2	4	1	3	5			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr1:186045567A>T	uc001grq.1	+	53	8527	c.8298A>T	c.(8296-8298)ccA>ccT	p.P2766P	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2766	Ig-like C2-type 26.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TAGTTCCTCCAAGTTTTCAGA	0.378													12	21					0	0	0.09319	0	0	T	186045567	A	T	186045567	2	4	81	1	0	0	0	0	0	0	0	1	7220	117	5	5		5	HMCN1	1	186045567	Silent	SNP	A	TCGA-DU-6542-01A-11D-1893-08	10998758	186045567	63205054	7	3470											
C2orf77	129881	broad.mit.edu	37	chr2	170537668	170537668	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actcatcgtgtggaattatgGtgacctgctggagatctact	9	13	11	8	1	2	2	1	1	1	1	3	4	2	3	1	3	2	1	1	3	3	2			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr2:170537668G>C	uc002ufe.2	-	1	237	c.143C>G	c.(142-144)aCc>aGc	p.T48S		NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN	Homo sapiens chromosome 2 open reading frame 77 (C2orf77), mRNA.	48										endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|urinary_tract(2)	23						TGGAATTATGGTGACCTGCTG	0.388													38	51					0	0	0.225048	0	0	C	170537668	G	C	170537668	3	2	81	1	0	0	0	0	1	0	0	0	2194	1261	44	5	1547	5	C2orf77	2	170537668	Missense_Mutation	SNP	G	TCGA-DU-6542-01A-11D-1893-08		170537668	72661705	8	3471											
TTN	7273	broad.mit.edu	37	chr2	179422678	179422678	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaggaccaggcctgtctaGcacaacaatgttaatgaaag	14	8	11	8	0	1	1	0	1	1	0	1	3	1	3	2	3	2	2	2	3	5	2			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr2:179422678G>C	uc021vsy.1	-	276	79924	c.79699C>G	c.(79699-79701)Cta>Gta	p.L26567V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.L20262V|TTN_uc021vta.1_Missense_Mutation_p.L20195V|TTN_uc021vtb.1_Missense_Mutation_p.L20070V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27494	Fibronectin type-III 93.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCCTGTCTAGCACAACAATG	0.448													18	229					0	0	0.204396	0	0	C	179422678	G	C	179422678	3	2	81	1	0	0	0	0	1	0	0	0	16732	962	34	5	20716	5	TTN	2	179422678	Missense_Mutation	SNP	G	TCGA-DU-6542-01A-11D-1893-08	8885010	179422678	63776695	9	3472											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								18	43					0	0	0.204396	0	0	T	209113112	C	T	209113112	3	4	81	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-6542-01A-11D-1893-08	29690434	209113112	34086261	10	3473											
UGT1A1	54658	broad.mit.edu	37	chr2	234602346	234602346	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttcaaagtatgaagaactCgcatcagctgtcctcaagag	13	11	8	9	1	3	3	3	1	0	2	5	3	4	3	1	0	2	3	1	0	5	3			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr2:234602346C>T	uc002vuv.4	+	0	835	c.696C>T	c.(694-696)ctC>ctT	p.L232L	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Silent_p.L232L	NM_001072	NP_001063	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A6 (UGT1A6), transcript variant 1, mRNA.	233					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	ATGAAGAACTCGCATCAGCTG	0.393													13	176					0	0	0.09319	0	0	T	234602346	C	T	234602346	2	4	81	1	0	0	0	0	0	0	0	1	16941	871	31	2		2	UGT1A1	2	234602346	Silent	SNP	C	TCGA-DU-6542-01A-11D-1893-08	25489234	234602346	8597027	11	3474											
SNED1	25992	broad.mit.edu	37	chr2	242003028	242003028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgagtgccgagctcaccCgtgcagaaatggagggtcct	9	7	15	10	2	1	2	1	1	0	1	2	5	2	4	3	3	3	2	3	3	1	0			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr2:242003028C>T	uc002wah.1	+	17	2396	c.2396C>T	c.(2395-2397)cCg>cTg	p.P799L	SNED1_uc002wai.1_Missense_Mutation_p.P34L|SNED1_uc002waj.1_5'Flank|SNED1_uc002wak.3_5'Flank	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	799	EGF-like 12; calcium-binding (Potential).				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CGAGCTCACCCGTGCAGAAAT	0.622													4	12					0	0	0.217242	0	0	T	242003028	C	T	242003028	3	4	81	1	0	0	0	0	1	0	0	0	14845	652	23	2	2466	2	SNED1	2	242003028	Missense_Mutation	SNP	C	TCGA-DU-6542-01A-11D-1893-08	7400682	242003028	1196345	12	3475											
CELSR3	1951	broad.mit.edu	37	chr3	48694173	48694173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgtgtagcctccctcgcGccgcgcgcaggctccgccgt	3	6	13	19	8	0	0	0	0	0	0	3	0	2	0	5	1	1	4	5	1	1	1			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr3:48694173G>A	uc003cuf.1	-	3	4567	c.4567C>T	c.(4567-4569)Cgc>Tgc	p.R1523C	CELSR3_uc003cul.3_Missense_Mutation_p.R1453C	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	1453	Laminin G-like 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCTCCCTCGCGCCGCGCGCAG	0.726													5	7					0	0	0.02938	0	0	A	48694173	G	A	48694173	3	1	81	1	0	0	0	0	1	0	0	0	3223	1087	38	1	5717	1	CELSR3	3	48694173	Missense_Mutation	SNP	G	TCGA-DU-6542-01A-11D-1893-08		48694173	149328257	13	3476											
WDR52	55779	broad.mit.edu	37	chr3	113098287	113098287	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcctcttcctcctcctgaaAttctttttctccatcttctc	4	19	1	17	0	5	1	0	1	5	0	11	1	9	1	5	0	0	0	5	0	1	5			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr3:113098287A>G	uc003ead.2	-	16	2231	c.2164T>C	c.(2164-2166)Ttt>Ctt	p.F722L	WDR52_uc003eae.2_Missense_Mutation_p.F722L	NM_001164496	NP_001157968	Q96MT7	WDR52_HUMAN	Homo sapiens WD repeat domain 52 (WDR52), transcript variant 1, mRNA.	722	Glu-rich.							p.E721K(1)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						tcctcctGAAATTCTTTTTCT	0.453													31	51					0	0	0.153744	0	0	G	113098287	A	G	113098287	3	3	81	1	0	0	0	0	1	0	0	0	17301	101	4	3	3491	3	WDR52	3	113098287	Missense_Mutation	SNP	A	TCGA-DU-6542-01A-11D-1893-08	64404114	113098287	84924143	14	3477											
VEGFC	7424	broad.mit.edu	37	chr4	177605151	177605151	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcactatatgaaaatcctgGctcacaagccttctggcggt	10	12	8	11	1	3	1	2	1	1	0	4	1	4	1	2	3	1	1	2	3	5	4			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr4:177605151G>C	uc003ius.1	-	6	1619	c.1189C>G	c.(1189-1191)Cca>Gca	p.P397A		NM_005429	NP_005420	P49767	VEGFC_HUMAN	Homo sapiens vascular endothelial growth factor C (VEGFC), mRNA.	397					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GAAAATCCTGGCTCACAAGCC	0.418													50	53					0	0	0.139131	0	0	C	177605151	G	C	177605151	3	2	81	1	0	0	0	0	1	0	0	0	17149	1203	42	5	77	5	VEGFC	4	177605151	Missense_Mutation	SNP	G	TCGA-DU-6542-01A-11D-1893-08		177605151	13549125	15	3478			1	4		2	2	15	N	T_G	1.401946e-05
VEGFC	7424	broad.mit.edu	37	chr4	177605165	177605165	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctggctcacaagccttcTggcggttcgtacatggccgt	6	11	11	13	3	2	0	1	0	1	0	4	0	3	0	3	4	2	3	3	4	2	3			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr4:177605165T>C	uc003ius.1	-	6	1605	c.1175A>G	c.(1174-1176)cAg>cGg	p.Q392R		NM_005429	NP_005420	P49767	VEGFC_HUMAN	Homo sapiens vascular endothelial growth factor C (VEGFC), mRNA.	392					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		ACAAGCCTTCTGGCGGTTCGT	0.418													49	55					0	0	0.139131	0	0	C	177605165	T	C	177605165	3	2	81	1	0	0	0	0	1	0	0	0	17149	1580	55	4	91	4	VEGFC	4	177605165	Missense_Mutation	SNP	T	TCGA-DU-6542-01A-11D-1893-08	14	177605165	13549111	16	3479			1	4		2	2	15	N	T_G	1.401946e-05
DDX43	55510	broad.mit.edu	37	chr6	74117789	74117789	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgaatgatctgcaaatgAgtaacttcgtcaatctgaag	14	12	9	6	1	3	4	1	4	2	0	4	5	3	4	0	0	2	2	0	0	5	3			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr6:74117789A>G	uc003pgw.3	+	8	1488	c.1144A>G	c.(1144-1146)Agt>Ggt	p.S382G	DDX43_uc011dyn.1_Non-coding_Transcript	NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA.	382	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TCTGCAAATGAGTAACTTCGT	0.388													26	10					0	0	0.0918	0	0	G	74117789	A	G	74117789	3	3	81	1	0	0	0	0	1	0	0	0	4363	304	11	4	1178	4	DDX43	6	74117789	Missense_Mutation	SNP	A	TCGA-DU-6542-01A-11D-1893-08		74117789	96997278	17	3480											
ZAN	7455	broad.mit.edu	37	chr7	100370923	100370923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagctatgaggtgcccacCtggcagcagctacagcccct	8	9	10	14	0	0	1	0	1	0	0	0	1	0	1	4	2	6	4	4	2	3	4			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr7:100370923C>T	uc003uwj.3	+	29	5606	c.5441C>T	c.(5440-5442)cCt>cTt	p.P1814L	ZAN_uc003uwk.3_Missense_Mutation_p.P1814L|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_Missense_Mutation_p.P391L|ZAN_uc011kke.2_5'Flank	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1814	TIL 3.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGGTGCCCACCTGGCAGCAGC	0.587													28	35					0	0	0.108266	0	0	T	100370923	C	T	100370923	3	4	81	1	0	0	0	0	1	0	0	0	17510	681	24	3	5555	3	ZAN	7	100370923	Missense_Mutation	SNP	C	TCGA-DU-6542-01A-11D-1893-08		100370923	58767740	18	3481											
TRPV5	56302	broad.mit.edu	37	chr7	142609711	142609711	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggtgtcgcccatcatggcGatgaacaagttgagcatgag	10	9	14	8	2	1	3	1	3	0	0	2	4	1	3	1	2	2	2	1	2	2	1			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr7:142609711G>A	uc003wby.1	-	12	1989	c.1725C>T	c.(1723-1725)atC>atT	p.I575I		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	575					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CCATCATGGCGATGAACAAGT	0.542													15	107					0	0	0.132662	0	0	A	142609711	G	A	142609711	2	1	81	1	0	0	0	0	0	0	0	1	16596	1048	37	2		2	TRPV5	7	142609711	Silent	SNP	G	TCGA-DU-6542-01A-11D-1893-08	42238788	142609711	16528952	19	3482											
ABCF2	10061	broad.mit.edu	37	chr7	150911221	150911221	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccttgtaagccaggatGtctccaggccacttggtgat	7	12	11	11	0	1	1	0	1	1	0	3	2	2	2	4	3	2	2	4	3	1	3			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr7:150911221G>A	uc003wjo.1	-	14	1902	c.1791C>T	c.(1789-1791)gaC>gaT	p.D597D	ABCF2_uc003wjp.3_Silent_p.D597D	NM_005692	NP_005683	Q9UG63	ABCF2_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 2 (ABCF2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	597	ABC transporter 2.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGCCAGGATGTCTCCAGGCC	0.542													26	41					0	0	0.0918	0	0	A	150911221	G	A	150911221	2	1	81	1	0	0	0	0	0	0	0	1	66	1368	48	3		3	ABCF2	7	150911221	Silent	SNP	G	TCGA-DU-6542-01A-11D-1893-08	8301510	150911221	8227442	20	3483											
PCMTD1	115294	broad.mit.edu	37	chr8	52733124	52733124	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgattacccacaaatacgtaAgtgttaattctctgtttaac	13	15	5	8	1	1	1	0	1	1	0	2	1	1	1	1	0	3	3	1	0	6	7			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr8:52733124A>T	uc003xqx.4	-	5	1202	c.861T>A	c.(859-861)acT>acA	p.T287T	PCMTD1_uc011ldm.2_Silent_p.T157T|PCMTD1_uc011ldn.2_Silent_p.T99T|PCMTD1_uc010lya.3_Silent_p.T211T	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 (PCMTD1), mRNA.	287						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				CAAATACGTAAGTGTTAATTC	0.393													9	218					0	0	0.11911	0	0	T	52733124	A	T	52733124	2	4	81	1	0	0	0	0	0	0	0	1	11586	59	3	5		5	PCMTD1	8	52733124	Silent	SNP	A	TCGA-DU-6542-01A-11D-1893-08		52733124	93630898	21	3484											
PTPRD	5789	broad.mit.edu	37	chr9	8376664	8376664	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctccacagtatcaagcagCgttacttgaacgagtccgtg	11	9	10	11	3	1	1	1	1	0	0	3	2	3	1	2	0	5	4	2	0	4	3			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr9:8376664C>T	uc003zkk.3	-	37	5192	c.4449G>A	c.(4447-4449)acG>acA	p.T1483T	PTPRD_uc003zkp.3_Silent_p.T1077T|PTPRD_uc003zkq.3_Silent_p.T1076T|PTPRD_uc003zkr.3_Silent_p.T1067T|PTPRD_uc003zks.3_Silent_p.T1076T|PTPRD_uc022bdj.1_Silent_p.T1073T	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1483	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TATCAAGCAGCGTTACTTGAA	0.453										TSP Lung(15;0.13)			15	41					0	0	0.146539	0	0	T	8376664	C	T	8376664	2	4	81	1	0	0	0	0	0	0	0	1	12799	755	27	1		1	PTPRD	9	8376664	Silent	SNP	C	TCGA-DU-6542-01A-11D-1893-08		8376664	132836767	22	3485											
ARHGAP22	58504	broad.mit.edu	37	chr10	49658514	49658514	+	Frame_Shift_Del	DEL	G	G	-																															cctcgctgctgctggggagcGgggagggctccagggcccag																										TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr10:49658514delG	uc001jgu.3	-	8	2003	c.1706delC	c.(1705-1707)ccgfs	p.P569fs	ARHGAP22_uc001jgs.3_Frame_Shift_Del_p.P463fs|ARHGAP22_uc001jgt.3_Frame_Shift_Del_p.P553fs|ARHGAP22_uc010qgl.2_Frame_Shift_Del_p.P510fs|ARHGAP22_uc010qgm.2_Frame_Shift_Del_p.P559fs|ARHGAP22_uc001jgv.3_Frame_Shift_Del_p.P251fs|ARHGAP22_uc001jgr.3_Frame_Shift_Del_p.P270fs	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	553	Ser-rich.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTGGGGAGCGGGGAGGGCTC	0.726													2	4	---	---	---	---						-	49658514	G	-	49658514	7	5	81	1	0	1	0	1	0	0	0	0	872	1116	39	0	446	0	ARHGAP22	10	49658514	Frame_Shift_Del	DEL	G	TCGA-DU-6542-01A-11D-1893-08		49658514	85876233	23	3486											
OR4X1	390113	broad.mit.edu	37	chr11	48285724	48285724	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatgttttccctccatttCtttggtggcactgaggcctt	5	16	9	11	0	1	2	0	1	1	1	3	2	3	2	3	3	0	2	3	3	0	5			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr11:48285724C>A	uc010rht.2	+	0	312	c.312C>A	c.(310-312)ttC>ttA	p.F104L		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						CCCTCCATTTCTTTGGTGGCA	0.498													33	53					1.62565e-12	2.07722e-12	0.163468	1	0	A	48285724	C	A	48285724	3	1	81	1	0	0	0	0	1	0	0	0	11084	912	32	5	314	5	OR4X1	11	48285724	Missense_Mutation	SNP	C	TCGA-DU-6542-01A-11D-1893-08		48285724	86720792	24	3487											
TRIM48	79097	broad.mit.edu	37	chr11	55035824	55035824	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctattttttttttttacAggcttttggagacatattat	8	24	5	4	0	1	1	0	0	1	1	1	2	1	1	0	2	1	1	0	2	4	12			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr11:55035824A>G	uc010rid.2	+	4	642	c.556_splice	c.e4-2	p.A186_splice		NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN	Homo sapiens tripartite motif containing 48 (TRIM48), mRNA.	170						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TTTTTTTTACAGGCTTTTGGA	0.343													30	47					0	0	0.163468	0	0	G	55035824	A	G	55035824	5	3	81	1	0	0	0	0	0	0	1	0	16520	202	7	4	568	4	TRIM48	11	55035824	Splice_Site	SNP	A	TCGA-DU-6542-01A-11D-1893-08	6750100	55035824	79970692	25	3488											
OR8I2	120586	broad.mit.edu	37	chr11	55861308	55861308	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgattccagcatcaatcaTtttttttgtgacaccacagc	10	15	6	10	0	2	2	2	2	0	0	3	2	3	2	2	0	2	1	2	0	1	5	rs112181516		TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr11:55861308T>C	uc010rix.2	+	0	525	c.525T>C	c.(523-525)caT>caC	p.H175H		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C178fs*2(1)|p.H175fs*10(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GCATCAATCATTTTTTTTGTG	0.443													7	117					0	0	0.02938	0	0	C	55861308	T	C	55861308	2	2	81	1	0	0	0	0	0	0	0	1	11240	1490	52	3		3	OR8I2	11	55861308	Silent	SNP	T	TCGA-DU-6542-01A-11D-1893-08	825484	55861308	79145208	26	3489											
OR5M9	390162	broad.mit.edu	37	chr11	56230846	56230846	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacaggtcagccccaggagaGtaaattctgtcacatccgtg	11	8	11	11	1	3	1	2	0	1	1	4	3	4	1	3	2	1	1	3	2	2	2			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr11:56230846G>C	uc010rjj.2	-	0	32	c.32C>G	c.(31-33)aCt>aGt	p.T11S	OR8U8_uc001nit.2_Intron	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					CCCCAGGAGAGTAAATTCTGT	0.418													9	37					0	0	0.047766	0	0	C	56230846	G	C	56230846	3	2	81	1	0	0	0	0	1	0	0	0	11177	1029	36	5	902	5	OR5M9	11	56230846	Missense_Mutation	SNP	G	TCGA-DU-6542-01A-11D-1893-08	369538	56230846	78775670	27	3490											
P2RY6	5031	broad.mit.edu	37	chr11	73007739	73007739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacgtcccgccgggccctgaCccgcacggccgtgtacaccc	5	4	11	21	6	0	1	0	1	0	0	1	1	1	1	6	2	1	2	6	2	1	1			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr11:73007739C>T	uc021qnb.1	+	0	176	c.176C>T	c.(175-177)aCc>aTc	p.T59I	P2RY6_uc001otm.3_Missense_Mutation_p.T59I|P2RY6_uc001otn.3_Missense_Mutation_p.T59I|P2RY6_uc001otq.3_Missense_Mutation_p.T59I|P2RY6_uc001otr.3_Missense_Mutation_p.T59I|P2RY6_uc001ots.3_Missense_Mutation_p.T59I	NM_176798	NP_789768	Q15077	P2RY6_HUMAN	Homo sapiens pyrimidinergic receptor P2Y, G-protein coupled, 6 (P2RY6), transcript variant 2, mRNA.	59					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						CGGGCCCTGACCCGCACGGCC	0.612													53	187					0	0	0.139131	0	0	T	73007739	C	T	73007739	3	4	81	1	0	0	0	0	1	0	0	0	11354	507	18	3	178	3	P2RY6	11	73007739	Missense_Mutation	SNP	C	TCGA-DU-6542-01A-11D-1893-08	16776893	73007739	61998777	28	3491											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	11	6	9	15	1	2	1	2	0	0	1	2	1	2	1	4	3	0	2	4	3	2	2	rs121912666		TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr17:7578190T>C	uc002gim.2	-	5	853	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.3_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.2_Missense_Mutation_p.Y181C|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(516)|p.Y127C(24)|p.Y220S(22)|p.Y220N(12)|p.Y220H(11)|p.?(11)|p.0?(8)|p.P219S(4)|p.P219P(4)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(3)|p.P219L(3)|p.Y220_P223delYEPP(2)|p.V218_Y220delVPY(2)|p.V216_Y220delVVVPY(2)|p.P219T(2)|p.Y220fs*25(2)|p.V218_E221delVPYE(2)|p.Y220fs*2(2)|p.V218_E224delVPYEPPE(2)|p.K164_P219del(1)|p.Y220L(1)|p.Y220fs*1(1)|p.Y127S(1)|p.V218_P219insX(1)|p.D208fs*1(1)|p.P219R(1)|p.P219C(1)|p.P219H(1)|p.V218fs*26(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)		AGGCGGCTCATAGGGCACCAC	0.557		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)			25	4					0	0	0.108266	0	0	C	7578190	T	C	7578190	3	2	81	1	0	0	0	0	1	0	0	0	16378	1406	49	3	635	3	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-DU-6542-01A-11D-1893-08		7578190	73617020	29	3492											
ABCC3	8714	broad.mit.edu	37	chr17	48733300	48733300	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgggtcgccctgccctgCtacttgctctacctgcggca	3	11	11	16	2	1	0	0	0	1	0	2	0	1	0	3	2	6	3	3	2	2	3			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr17:48733300C>T	uc002isl.3	+	1	233	c.153C>T	c.(151-153)tgC>tgT	p.C51C	ABCC3_uc002isk.4_Silent_p.C51C	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	51					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCCTGCCCTGCTACTTGCTCT	0.597													9	57					0	0	0.058154	0	0	T	48733300	C	T	48733300	2	4	81	1	0	0	0	0	0	0	0	1	54	805	28	3		3	ABCC3	17	48733300	Silent	SNP	C	TCGA-DU-6542-01A-11D-1893-08	41155110	48733300	32461910	30	3493											
APPBP2	10513	broad.mit.edu	37	chr17	58556547	58556547	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcacgaaaccaatgaagcatCtcatcgtgtagagtacacaa	16	7	8	10	2	1	2	1	1	1	1	3	3	1	2	1	0	3	4	1	0	6	2			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr17:58556547C>G	uc002iys.1	-	3	753	c.465G>C	c.(463-465)gaG>gaC	p.E155D	APPBP2_uc010ddl.1_Missense_Mutation_p.E84D	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Homo sapiens amyloid beta precursor protein (cytoplasmic tail) binding protein 2 (APPBP2), mRNA.	155					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding	p.D154Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			AATGAAGCATCTCATCGTGTA	0.383													30	55					0	0	0.163468	0	0	G	58556547	C	G	58556547	3	3	81	1	0	0	0	0	1	0	0	0	816	912	32	5	1332	5	APPBP2	17	58556547	Missense_Mutation	SNP	C	TCGA-DU-6542-01A-11D-1893-08	9823247	58556547	22638663	31	3494											
SRRM1	10250	broad.mit.edu	37	chr1	24977940	24977940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccctagaagacgatcttccCctgtcaggagagagagaaag	13	6	11	11	1	2	4	1	0	1	4	3	8	3	5	4	1	0	0	4	1	3	2			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr1:24977940C>T	uc001bjm.3	+	5	786	c.562C>T	c.(562-564)Cct>Tct	p.P188S	SRRM1_uc010oel.2_Missense_Mutation_p.P188S|SRRM1_uc009vrh.1_Missense_Mutation_p.P149S|SRRM1_uc009vri.1_Missense_Mutation_p.P105S|SRRM1_uc010oem.1_Intron	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	188	Arg-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		ACGATCTTCCCCTGTCAGGAG	0.463													15	19					0	0	1	0	0	T	24977940	C	T	24977940	3	4	82	1	0	0	0	0	1	0	0	0	15167	623	22	3	584	3	SRRM1	1	24977940	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08		24977940	224272681	1	3495											
MAST2	23139	broad.mit.edu	37	chr1	46499563	46499563	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagggcagctacaaggccaaGatggcccgaaggagcaagag	15	2	15	9	1	0	2	0	0	0	2	0	4	0	3	2	4	3	3	2	4	6	1			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr1:46499563G>C	uc001cov.3	+	26	3910	c.3627G>C	c.(3625-3627)aaG>aaC	p.K1209N	MAST2_uc001cow.3_Missense_Mutation_p.K1209N|MAST2_uc001cpa.3_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	1209					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					ACAAGGCCAAGATGGCCCGAA	0.572													14	21					0	0	1	0	0	C	46499563	G	C	46499563	3	2	82	1	0	0	0	0	1	0	0	0	9325	933	33	5	3733	5	MAST2	1	46499563	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	21521623	46499563	202751058	2	3496											
TMEM48	55706	broad.mit.edu	37	chr1	54266521	54266521	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccaattgtggggatgtccaCctaggaggtccaaacaccag	11	8	11	11	0	0	0	0	0	0	0	3	2	3	2	5	4	1	0	5	4	3	2			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr1:54266521C>A	uc001cvs.3	-	11	1358	c.1067_splice	c.e11-1	p.G356_splice	TMEM48_uc010onu.2_Splice_Site_p.G316_splice|TMEM48_uc001cvt.3_Splice_Site_p.G233_splice|TMEM48_uc009vzk.3_Splice_Site|TMEM48_uc010onv.2_Splice_Site_p.G21_splice	NM_018087	NP_060557	Q9BTX1	NDC1_HUMAN	Homo sapiens transmembrane protein 48 (TMEM48), transcript variant 1, mRNA.	356					mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18						GGGATGTCCACCTAGGAGGTC	0.403													21	37					0.00229938	0.00232284	1	1	0	A	54266521	C	A	54266521	5	1	82	1	0	0	0	0	0	0	1	0	16169	521	18	5	989	5	TMEM48	1	54266521	Splice_Site	SNP	C	TCGA-DU-7006-01A-11D-2024-08	7766958	54266521	194984100	3	3497											
CACNA1E	777	broad.mit.edu	37	chr1	181708361	181708361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctggactttgtggtggtcGttggcgcattggtggccttt	2	16	15	8	2	0	0	0	0	0	0	2	1	1	1	2	6	0	2	2	6	0	4			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr1:181708361G>A	uc009wxt.3	+	24	3886	c.3691G>A	c.(3691-3693)Gtt>Att	p.V1231I	CACNA1E_uc001gow.3_Missense_Mutation_p.V1231I|CACNA1E_uc009wxs.3_Missense_Mutation_p.V1212I|CACNA1E_uc001gox.1_Missense_Mutation_p.V457I	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1231	Poly-Val.				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGTGGTGGTCGTTGGCGCATT	0.502													55	93					0	0	1	0	0	A	181708361	G	A	181708361	3	1	82	1	0	0	0	0	1	0	0	0	2542	1145	40	1	3789	1	CACNA1E	1	181708361	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	127441840	181708361	67542260	4	3498											
KCNT2	343450	broad.mit.edu	37	chr1	196197431	196197431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcgactgggctcactgtttgGaaggtaggccagtggatctg	7	11	15	8	1	2	0	1	0	1	0	3	3	2	2	1	5	0	3	1	5	2	2			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr1:196197431G>A	uc001gtd.1	-	27	3391	c.3331C>T	c.(3331-3333)Cca>Tca	p.P1111S	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.P1044S|KCNT2_uc001gtf.1_Missense_Mutation_p.P1087S|KCNT2_uc001gtg.1_Non-coding_Transcript	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	1111						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TCACTGTTTGGAAGGTAGGCC	0.353													12	34					0	0	1	0	0	A	196197431	G	A	196197431	3	1	82	1	0	0	0	0	1	0	0	0	8092	1174	41	3	80	3	KCNT2	1	196197431	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	14489070	196197431	53053190	5	3499											
HEATR5B	54497	broad.mit.edu	37	chr2	37217840	37217840	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaatctgttcatgcagccaTtctgtaatgactggactcct	10	14	7	10	0	3	1	1	1	2	0	4	2	4	2	2	1	2	3	2	1	3	4			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr2:37217840T>C	uc002rpp.1	-	33	5744	c.5648A>G	c.(5647-5649)aAt>aGt	p.N1883S	HEATR5B_uc010ezy.1_Missense_Mutation_p.N378S	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	1883							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CATGCAGCCATTCTGTAATGA	0.388													12	63					0	0	1	0	0	C	37217840	T	C	37217840	3	2	82	1	0	0	0	0	1	0	0	0	7032	1493	52	3	579	3	HEATR5B	2	37217840	Missense_Mutation	SNP	T	TCGA-DU-7006-01A-11D-2024-08		37217840	205981533	6	3500											
DFNB59	494513	broad.mit.edu	37	chr2	179319235	179319235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtggaagtatcaacattaCtcaaagaaattactacacgg	18	9	7	7	1	2	1	2	0	0	1	2	2	2	2	0	2	4	1	0	2	9	4			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr2:179319235C>T	uc002umi.4	+	2	744	c.388C>T	c.(388-390)Ctc>Ttc	p.L130F	MIR548N_uc021vsx.1_Intron|DFNB59_uc002umj.4_Missense_Mutation_p.L130F	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	Homo sapiens deafness, autosomal recessive 59 (DFNB59), mRNA.	130					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			ATCAACATTACTCAAAGAAAT	0.308													18	17					0	0	1	0	0	T	179319235	C	T	179319235	3	4	82	1	0	0	0	0	1	0	0	0	4456	565	20	3	394	3	DFNB59	2	179319235	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	142101395	179319235	63880138	7	3501											
CTLA4	1493	broad.mit.edu	37	chr2	204732687	204732687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcttgccttggatttcagCggcacaaggctcagctgaac	8	10	12	11	1	2	1	2	1	0	0	2	2	2	2	1	4	4	4	1	4	2	3			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr2:204732687C>T	uc002vak.2	+	0	177	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W	CTLA4_uc002val.2_Missense_Mutation_p.R8W|CTLA4_uc010fty.2_Missense_Mutation_p.R8W|CTLA4_uc010ftz.2_Non-coding_Transcript	NM_005214	NP_005205	P16410	CTLA4_HUMAN	Homo sapiens cytotoxic T-lymphocyte-associated protein 4 (CTLA4), transcript variant 1, mRNA.	8					B cell receptor signaling pathway|T cell costimulation|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus	Golgi apparatus|clathrin-coated endocytic vesicle|external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm				large_intestine(4)|lung(4)|skin(1)	9					Abatacept(DB01281)	TGGATTTCAGCGGCACAAGGC	0.498													5	33					0	0	1	0	0	T	204732687	C	T	204732687	3	4	82	1	0	0	0	0	1	0	0	0	4011	759	27	1	24	1	CTLA4	2	204732687	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	25413452	204732687	38466686	8	3502											
PPARG	5468	broad.mit.edu	37	chr3	12421382	12421382	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttccattcacaagaacagatCcagtggttgcagattacaag	14	10	8	9	0	1	3	1	0	0	3	3	3	3	3	2	1	3	2	2	1	4	4			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr3:12421382C>G	uc003bwx.3	+	1	353	c.262C>G	c.(262-264)Cca>Gca	p.P88A	PPARG_uc003bwr.3_Missense_Mutation_p.P60A|PPARG_uc003bws.3_Missense_Mutation_p.P60A|PPARG_uc003bwu.3_Missense_Mutation_p.P60A|PPARG_uc003bwv.3_Missense_Mutation_p.P60A|PPARG_uc010hea.1_Non-coding_Transcript|PPARG_uc010hdz.1_Non-coding_Transcript|PPARG_uc003bwt.1_Missense_Mutation_p.P60A|PPARG_uc003bww.1_Missense_Mutation_p.P88A	NM_015869	NP_619726	P37231	PPARG_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA.	88					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	AAGAACAGATCCAGTGGTTGC	0.398			T	PAX8	follicular thyroid		"Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"						29	79					0	0	1	0	0	G	12421382	C	G	12421382	3	3	82	1	0	0	0	0	1	0	0	0	12299	855	30	5	268	5	PPARG	3	12421382	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08		12421382	185601048	9	3503											
NEK10	152110	broad.mit.edu	37	chr3	27352499	27352499	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgactgcagcaagtttttGaaaaatatctataaaggaaa	17	13	7	4	0	1	2	0	2	1	0	1	3	1	3	0	1	2	3	0	1	8	6			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr3:27352499G>A	uc003cdt.2	-	9	851	c.577C>T	c.(577-579)Caa>Taa	p.Q193*	NEK10_uc021wuk.1_3'UTR	NM_199347	NP_955379	Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	193							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GCAAGTTTTTGAAAAATATCT	0.468													20	49					0	0	1	0	0	A	27352499	G	A	27352499	4	1	82	1	0	0	0	0	0	1	0	0	10322	1299	45	3	1625	3	NEK10	3	27352499	Nonsense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	14931117	27352499	170669931	10	3504											
PIK3CA	5290	broad.mit.edu	37	chr3	178936095	178936095	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctctgaaatcactgagcAggagaaagattttctatgga	13	12	9	7	0	4	4	1	2	3	2	5	6	4	5	0	2	1	1	0	2	3	3			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr3:178936095A>C	uc003fjk.3	+	9	1794	c.1637A>C	c.(1636-1638)cAg>cCg	p.Q546P		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	546	PI3K helical.		Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(1071)|p.E545A(96)|p.Q546K(94)|p.E545G(79)|p.Q546R(58)|p.Q546P(33)|p.E545D(23)|p.E545Q(21)|p.E545?(19)|p.Q546E(12)|p.Q546L(11)|p.E545V(6)|p.Q546H(5)|p.(542_545)E>K(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ATCACTGAGCAGGAGAAAGAT	0.363		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			10	25					0	0	1	0	0	C	178936095	A	C	178936095	3	2	82	1	0	0	0	0	1	0	0	0	11913	188	7	5	1671	5	PIK3CA	3	178936095	Missense_Mutation	SNP	A	TCGA-DU-7006-01A-11D-2024-08	151583596	178936095	19086335	11	3505											
EIF4G1	1981	broad.mit.edu	37	chr3	184043126	184043126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagacgtcatcccgcatcCgctttatgctgcaggacgtg	9	9	11	12	4	1	2	1	0	0	2	3	3	3	3	2	1	2	4	2	1	2	2			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr3:184043126C>T	uc003fnp.3	+	18	3197	c.2926C>T	c.(2926-2928)Cgc>Tgc	p.R976C	EIF4G1_uc003fno.2_Missense_Mutation_p.R917C|EIF4G1_uc010hxw.2_Missense_Mutation_p.R812C|EIF4G1_uc010hxx.3_Missense_Mutation_p.R983C|EIF4G1_uc003fnt.3_Missense_Mutation_p.R687C|EIF4G1_uc010hxy.3_Missense_Mutation_p.R983C|EIF4G1_uc003fnq.3_Missense_Mutation_p.R889C|EIF4G1_uc003fnr.3_Missense_Mutation_p.R812C|EIF4G1_uc003fns.3_Missense_Mutation_p.R936C|EIF4G1_uc003fnv.4_Missense_Mutation_p.R977C|EIF4G1_uc003fnw.3_Missense_Mutation_p.R983C|EIF4G1_uc003fnx.3_Missense_Mutation_p.R781C|SNORD66_uc003fnz.3_5'Flank	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	976	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATCCCGCATCCGCTTTATGCT	0.527													40	70					0	0	1	0	0	T	184043126	C	T	184043126	3	4	82	1	0	0	0	0	1	0	0	0	5036	652	23	2	2992	2	EIF4G1	3	184043126	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	5107031	184043126	13979304	12	3506											
ATP13A3	79572	broad.mit.edu	37	chr3	194181443	194181443	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctctgacacaggtcgCtttcacccgccactcaggca	8	8	9	16	2	3	1	2	1	1	0	4	1	3	1	2	2	2	4	2	2	0	1			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr3:194181443C>T	uc003fty.4	-	2	571	c.169G>A	c.(169-171)Gcg>Acg	p.A57T		NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	57					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ACACAGGTCGCTTTCACCCGC	0.448													30	58					0	0	1	0	0	T	194181443	C	T	194181443	3	4	82	1	0	0	0	0	1	0	0	0	1125	797	28	3	3631	3	ATP13A3	3	194181443	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	10138317	194181443	3840987	13	3507											
MAEA	10296	broad.mit.edu	37	chr4	1316242	1316242	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagaggcgtgagacggccaCctgcctggcctggtgccatg	6	6	17	12	2	0	2	0	1	0	2	0	4	0	2	5	5	2	0	5	5	0	0			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr4:1316242C>G	uc003gda.3	+	3	560	c.530C>G	c.(529-531)aCc>aGc	p.T177S	MAEA_uc010ibs.1_Intron|MAEA_uc003gdd.3_Intron|MAEA_uc003gdb.3_Intron|MAEA_uc011bvb.2_Missense_Mutation_p.T109S|MAEA_uc003gdc.3_Intron|MAEA_uc011bvc.2_Missense_Mutation_p.T176S|MAEA_uc011bvd.2_Missense_Mutation_p.T129S|MAEA_uc010ibt.3_Intron	NM_001017405	NP_001017405	Q7L5Y9	MAEA_HUMAN	Homo sapiens macrophage erythroblast attacher (MAEA), transcript variant 1, mRNA.	177	CTLH.				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			GAGACGGCCACCTGCCTGGCC	0.617													16	75					0	0	1	0	0	G	1316242	C	G	1316242	3	3	82	1	0	0	0	0	1	0	0	0	9153	507	18	5	544	5	MAEA	4	1316242	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08		1316242	189838034	14	3508											
KDR	3791	broad.mit.edu	37	chr4	55976872	55976872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcgcagggattctgacaCgctcccccaccgtggcttcc	6	9	9	17	3	1	1	0	1	1	0	4	2	3	2	4	2	0	3	4	2	0	3			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr4:55976872C>T	uc003has.3	-	7	1342	c.1040G>A	c.(1039-1041)cGt>cAt	p.R347H	KDR_uc003hat.1_Missense_Mutation_p.R347H|KDR_uc011bzx.2_Missense_Mutation_p.R347H	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	347	Ig-like C2-type 4.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.R347H(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GATTCTGACACGCTCCCCCAC	0.418			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			8	105					0	0	1	0	0	T	55976872	C	T	55976872	3	4	82	1	0	0	0	0	1	0	0	0	8139	536	19	1	3122	1	KDR	4	55976872	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	54660630	55976872	135177404	15	3509											
TRPC3	7222	broad.mit.edu	37	chr4	122853813	122853813	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagacgcttgctggccgcGaagccagggtggttgaggat	7	8	18	8	3	0	2	0	2	0	1	0	5	0	3	2	4	2	3	2	4	1	2			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr4:122853813G>T	uc003ieg.2	-	1	674	c.600C>A	c.(598-600)ttC>ttA	p.F200L	TRPC3_uc010inr.2_Missense_Mutation_p.F127L|TRPC3_uc003ief.2_Missense_Mutation_p.F127L|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	115					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGCTGGCCGCGAAGCCAGGGT	0.637													12	33					2.27111e-07	2.36674e-07	1	1	0	T	122853813	G	T	122853813	3	4	82	1	0	0	0	0	1	0	0	0	16576	1049	37	5	2209	5	TRPC3	4	122853813	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	66876941	122853813	68300463	16	3510											
RBM46	166863	broad.mit.edu	37	chr4	155719190	155719190	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcttaataattatgaaattCgaccagggaagtttattggt	13	16	8	4	1	1	1	0	1	1	0	2	3	1	2	1	2	0	1	1	2	6	8			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr4:155719190C>T	uc003ioo.3	+	2	552	c.379C>T	c.(379-381)Cga>Tga	p.R127*	RBM46_uc011cim.1_Nonsense_Mutation_p.R127*|RBM46_uc003iop.1_Nonsense_Mutation_p.R127*	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	127	RRM 1.						RNA binding|nucleotide binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				TTATGAAATTCGACCAGGGAA	0.338													18	50					0	0	1	0	0	T	155719190	C	T	155719190	4	4	82	1	0	0	0	0	0	1	0	0	13140	876	31	2	385	2	RBM46	4	155719190	Nonsense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	32865377	155719190	35435086	17	3511											
NPR3	4883	broad.mit.edu	37	chr5	32712556	32712556	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggtccacgaggtcttccAggaggagggtttgcacacgt	7	8	17	9	2	1	0	0	0	1	0	3	3	3	2	2	6	1	2	2	6	0	2			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr5:32712556A>T	uc003jhv.3	+	0	1119	c.674A>T	c.(673-675)cAg>cTg	p.Q225L	NPR3_uc010iuo.3_Intron|NPR3_uc003jhw.2_Intron|NPR3_uc003jhu.3_Missense_Mutation_p.Q225L	NM_001204375	NP_001191304	P17342	ANPRC_HUMAN	Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA.	225					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GAGGTCTTCCAGGAGGAGGGT	0.582													10	95					0	0	1	0	0	T	32712556	A	T	32712556	3	4	82	1	0	0	0	0	1	0	0	0	10596	188	7	5	676	5	NPR3	5	32712556	Missense_Mutation	SNP	A	TCGA-DU-7006-01A-11D-2024-08		32712556	148202704	18	3512											
SLCO4C1	353189	broad.mit.edu	37	chr5	101583042	101583042	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaaggaatatgggcagtttCgcacaatgagtttcacattt	13	12	9	7	1	1	1	1	1	0	0	2	2	1	2	0	2	0	4	0	2	4	4			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr5:101583042C>T	uc003knm.3	-	9	2012	c.1725G>A	c.(1723-1725)gcG>gcA	p.A575A		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	575					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TGGGCAGTTTCGCACAATGAG	0.353													54	88					0	0	1	0	0	T	101583042	C	T	101583042	2	4	82	1	0	0	0	0	0	0	0	1	14730	871	31	2		2	SLCO4C1	5	101583042	Silent	SNP	C	TCGA-DU-7006-01A-11D-2024-08	68870486	101583042	79332218	19	3513											
MEGF10	84466	broad.mit.edu	37	chr5	126790302	126790302	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atatgggaaaatccttaaaaGgtatcatgtaaatttgaaga	18	12	8	3	0	1	2	1	1	0	1	2	3	2	3	1	2	0	2	1	2	9	5			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr5:126790302G>A	uc003kuh.4	+	24	3387	c.3025_splice	c.e24+1	p.D1009_splice	MEGF10_uc003kui.4_Splice_Site_p.D1009_splice	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	1009	Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ATCCTTAAAAGGTATCATGTA	0.323													12	28					0	0	1	0	0	A	126790302	G	A	126790302	5	1	82	1	0	0	0	0	0	0	1	0	9460	1014	35	3	3111	3	MEGF10	5	126790302	Splice_Site	SNP	G	TCGA-DU-7006-01A-11D-2024-08	25207260	126790302	54124958	20	3514											
PCDHGC5	56097	broad.mit.edu	37	chr5	140746124	140746124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctcgcactttgtgggcGtggatggggttcgggctttc	2	12	16	11	4	0	0	0	0	0	0	3	1	0	1	2	5	0	3	2	5	0	3			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr5:140746124G>A	uc003lju.2	+	0	2227	c.2227G>A	c.(2227-2229)Gtg>Atg	p.V743M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Missense_Mutation_p.V743M	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	753					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTGTGGGCGTGGATGGGGT	0.632													56	83					0	0	1	0	0	A	140746124	G	A	140746124	3	1	82	1	0	0	0	0	1	0	0	0	11571	1145	40	1		1	PCDHGC5	5	140746124	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	13955822	140746124	40169136	21	3515											
PAK1IP1	55003	broad.mit.edu	37	chr6	10707679	10707679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttcagttttgaaattccaGagcatcatgttattgtttca	10	18	7	6	0	3	2	3	1	0	1	4	2	4	2	1	0	1	5	1	0	2	7			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr6:10707679G>A	uc003mzg.3	+	7	803	c.772G>A	c.(772-774)Gag>Aag	p.E258K		NM_017906	NP_060376	Q9NWT1	PK1IP_HUMAN	Homo sapiens PAK1 interacting protein 1 (PAK1IP1), mRNA.	258					negative regulation of signal transduction	nucleolus|plasma membrane		p.E258Q(2)		kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				TGAAATTCCAGAGCATCATGT	0.328													38	125					0	0	1	0	0	A	10707679	G	A	10707679	3	1	82	1	0	0	0	0	1	0	0	0	11400	943	33	3	802	3	PAK1IP1	6	10707679	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08		10707679	160407388	22	3516											
GPRC6A	222545	broad.mit.edu	37	chr6	117130650	117130650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctcagagtggctgccattgCcactgtgacttctgtacaag	8	11	10	12	0	2	2	1	1	1	1	2	2	2	2	3	1	3	2	3	1	2	3			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr6:117130650C>T	uc003pxj.1	-	1	347	c.325G>A	c.(325-327)Gca>Aca	p.A109T	GPRC6A_uc003pxk.1_Missense_Mutation_p.A109T|GPRC6A_uc003pxl.1_Missense_Mutation_p.A109T	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	109					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GCTGCCATTGCCACTGTGACT	0.428													15	23					0	0	1	0	0	T	117130650	C	T	117130650	3	4	82	1	0	0	0	0	1	0	0	0	6728	739	26	3	2475	3	GPRC6A	6	117130650	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	106422971	117130650	53984417	23	3517											
EGFR	1956	broad.mit.edu	37	chr7	55221711	55221711	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctcctccataggtctgccGcaaattccgagacgaagcca	10	8	8	15	3	2	1	0	0	2	1	5	3	4	1	5	1	2	1	5	1	3	2			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr7:55221711G>C	uc003tqk.3	+	6	1001	c.755G>C	c.(754-756)cGc>cCc	p.R252P	EGFR_uc003tqh.3_Missense_Mutation_p.R252P|EGFR_uc003tqi.3_Missense_Mutation_p.R252P|EGFR_uc003tqj.3_Missense_Mutation_p.R252P|EGFR_uc022adm.1_Missense_Mutation_p.R252P|EGFR_uc010kzg.2_Missense_Mutation_p.R207P|EGFR_uc022adn.1_Missense_Mutation_p.R207P|EGFR_uc011kco.2_Missense_Mutation_p.R199P|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	252					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.R252C(1)|p.C251Y(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TAGGTCTGCCGCAAATTCCGA	0.587		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			16	109					0	0	1	0	0	C	55221711	G	C	55221711	3	2	82	1	0	0	0	0	1	0	0	0	4967	1087	38	5	781	5	EGFR	7	55221711	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08		55221711	103916952	24	3518											
PON1	5444	broad.mit.edu	37	chr7	94947701	94947701	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcggagagcattaagtcGtgttctgtgggggagaaaga	10	10	15	6	2	2	3	0	0	2	3	4	5	2	3	0	3	1	2	0	3	2	2			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr7:94947701G>A	uc003uns.3	-	1	176	c.79C>T	c.(79-81)Cga>Tga	p.R27*	PON1_uc011kih.2_Intron	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	27					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	p.R27*(2)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	GCATTAAGTCGTGTTCTGTGG	0.388													7	92					0	0	1	0	0	A	94947701	G	A	94947701	4	1	82	1	0	0	0	0	0	1	0	0	12248	1153	40	1	1020	1	PON1	7	94947701	Nonsense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	39725990	94947701	64190962	25	3519											
NOS3	4846	broad.mit.edu	37	chr7	150704320	150704320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagggcgacgagctgtgcGgccaggaggaggccttccga	7	4	18	12	4	0	0	0	0	0	0	1	5	1	2	4	5	2	1	4	5	0	1			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr7:150704320G>A	uc003wif.3	+	16	2364	c.2068G>A	c.(2068-2070)Ggc>Agc	p.G690S	NOS3_uc011kuy.2_Missense_Mutation_p.G484S	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	690	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CGAGCTGTGCGGCCAGGAGGA	0.706													10	47					0	0	1	0	0	A	150704320	G	A	150704320	3	1	82	1	0	0	0	0	1	0	0	0	10544	1116	39	2	2412	2	NOS3	7	150704320	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	55756619	150704320	8434343	26	3520											
FAM135B	51059	broad.mit.edu	37	chr8	139149434	139149434	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttacacatttcaatcctgGctgaatgaaatggcacataa	14	13	6	8	0	1	2	1	2	0	0	2	2	2	2	1	2	1	2	1	2	5	4			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr8:139149434G>T	uc003yuy.3	-	18	4142	c.3971C>A	c.(3970-3972)gCc>gAc	p.A1324D	FAM135B_uc003yux.3_Missense_Mutation_p.A1225D|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1324								p.A1324A(1)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTCAATCCTGGCTGAATGAAA	0.388										HNSCC(54;0.14)			37	54					4.32679e-17	4.60594e-17	1	1	0	T	139149434	G	T	139149434	3	4	82	1	0	0	0	0	1	0	0	0	5449	1203	42	5	257	5	FAM135B	8	139149434	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08		139149434	7214588	27	3521											
TSNARE1	203062	broad.mit.edu	37	chr8	143427185	143427185	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttccccacacagcggttctGcagcttgctctctggcgacg	5	10	10	16	3	2	0	0	0	2	0	4	1	3	0	2	2	4	4	2	2	0	3			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr8:143427185G>A	uc003ywj.3	-	1	196	c.157C>T	c.(157-159)Cag>Tag	p.Q53*	TSNARE1_uc011lju.2_Nonsense_Mutation_p.Q53*|TSNARE1_uc003ywk.3_Nonsense_Mutation_p.Q53*|TSNARE1_uc003ywl.4_Intron	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA.	53					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CAGCGGTTCTGCAGCTTGCTC	0.597													17	36					0	0	1	0	0	A	143427185	G	A	143427185	4	1	82	1	0	0	0	0	0	1	0	0	16627	1328	46	3	1428	3	TSNARE1	8	143427185	Nonsense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	4277751	143427185	2936837	28	3522											
FBP2	8789	broad.mit.edu	37	chr9	97355890	97355890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagatggctttgatggccGtcagcattgagttcagcagc	9	10	14	8	1	2	3	2	2	0	1	2	4	2	3	1	3	3	4	1	3	0	3			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr9:97355890G>A	uc004auv.3	-	0	186	c.119C>T	c.(118-120)aCg>aTg	p.T40M		NM_003837	NP_003828	O00757	F16P2_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 2 (FBP2), mRNA.	40					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				TTTGATGGCCGTCAGCATTGA	0.632													15	20					0	0	1	0	0	A	97355890	G	A	97355890	3	1	82	1	0	0	0	0	1	0	0	0	5706	1145	40	1	928	1	FBP2	9	97355890	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08		97355890	43857541	29	3523											
SEC16A	9919	broad.mit.edu	37	chr9	139354230	139354230	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagagtgtcgcccatggtagCcatcgtcctggactcgacgt	7	9	12	13	4	0	1	0	0	0	1	4	3	1	2	3	2	1	1	3	2	1	1			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr9:139354230C>G	uc004chx.3	-	14	5479	c.5170G>C	c.(5170-5172)Gct>Cct	p.A1724P	SEC16A_uc004chu.3_5'Flank|SEC16A_uc004chv.4_Missense_Mutation_p.A1114P|SEC16A_uc004chw.3_Missense_Mutation_p.A1724P|SEC16A_uc010nbn.3_Missense_Mutation_p.A1724P	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	1546					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCCATGGTAGCCATCGTCCTG	0.587													5	5					0	0	1	0	0	G	139354230	C	G	139354230	3	3	82	1	0	0	0	0	1	0	0	0	13986	739	26	5	1975	5	SEC16A	9	139354230	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	41998340	139354230	1859201	30	3524											
SLC22A25	387601	broad.mit.edu	37	chr11	62931428	62931429	+	Frame_Shift_Del	DEL	AA	AA	-																															acaaggccagagaggatggcAaagactccatagatgatcca																										TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr11:62931428_62931429delAA	uc001nwr.1	-	8	1511_1512	c.1511_1512delTT	c.(1510-1512)tttfs	p.F504fs	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	504					transmembrane transport	integral to membrane		p.V503V(1)		NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						AGAGGATGGCAAAGACTCCATA	0.495													7	90	---	---	---	---						-	62931429	AA	-	62931428	7	5	82	1	0	1	0	1	0	0	0	0	14454	127	5	0	135	0	SLC22A25	11	62931428	Frame_Shift_Del	DEL	AA	TCGA-DU-7006-01A-11D-2024-08		62931428	72075088	31	3525											
MMP20	9313	broad.mit.edu	37	chr11	102477309	102477309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttccccagcattgtcacagCgtcaaaggatgagctggagt	10	9	11	11	1	2	1	2	1	0	0	3	3	3	3	2	2	3	2	2	2	1	2	rs148818720	byFrequency	TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr11:102477309C>T	uc001phc.3	-	5	923	c.910G>A	c.(910-912)Gct>Act	p.A304T		NM_004771	NP_004762	O60882	MMP20_HUMAN	Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA.	304	Hemopexin-like 1.				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		ATTGTCACAGCGTCAAAGGAT	0.577													4	33					0	0	1	0	0	T	102477309	C	T	102477309	3	4	82	1	0	0	0	0	1	0	0	0	9659	768	27	1	561	1	MMP20	11	102477309	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	39545881	102477309	32529207	32	3526											
ROBO4	54538	broad.mit.edu	37	chr11	124756934	124756934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctcctcaggggtcagcaCgctgtcttgatcctccccca	6	10	8	17	1	3	1	2	1	1	0	6	1	6	1	5	2	2	2	5	2	1	2			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr11:124756934C>T	uc001qbg.3	-	14	2514	c.2374G>A	c.(2374-2376)Gtg>Atg	p.V792M	ROBO4_uc010sas.2_Missense_Mutation_p.V647M|ROBO4_uc001qbh.2_Missense_Mutation_p.V682M|ROBO4_uc001qbi.3_Missense_Mutation_p.V350M	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	792					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGGGTCAGCACGCTGTCTTGA	0.592													30	38					0	0	1	0	0	T	124756934	C	T	124756934	3	4	82	1	0	0	0	0	1	0	0	0	13516	536	19	1	665	1	ROBO4	11	124756934	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	22279625	124756934	10249582	33	3527											
GLB1L3	112937	broad.mit.edu	37	chr11	134158762	134158762	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcattcaataaggataaaaCatacatgccgtatctccaca	16	10	4	11	1	3	0	2	0	1	0	4	1	3	1	2	1	3	1	2	1	6	5			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr11:134158762C>A	uc009zdf.3	+	6	1067	c.707C>A	c.(706-708)aCa>aAa	p.T236K	GLB1L3_uc010scs.2_Missense_Mutation_p.T236K|GLB1L3_uc010sct.2_Missense_Mutation_p.T88K	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	Homo sapiens galactosidase, beta 1-like 3 (GLB1L3), mRNA.	236					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		AAGGATAAAACATACATGCCG	0.498													3	32					0.004672	0.004672	1	1	0	A	134158762	C	A	134158762	3	1	82	1	0	0	0	0	1	0	0	0	6430	478	17	5	733	5	GLB1L3	11	134158762	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	9401828	134158762	847754	34	3528											
PZP	5858	broad.mit.edu	37	chr12	9304243	9304243	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgttgctcacttctgtcCggctcacagagctagatctt	6	14	10	11	1	4	2	2	0	2	2	5	2	5	2	1	2	2	5	1	2	1	5			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr12:9304243C>T	uc001qvl.3	-	32	4267	c.4238G>A	c.(4237-4239)cGg>cAg	p.R1413Q	PZP_uc009zgl.3_Missense_Mutation_p.R1199Q	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CACTTCTGTCCGGCTCACAGA	0.443													4	40					0	0	1	0	0	T	9304243	C	T	9304243	3	4	82	1	0	0	0	0	1	0	0	0	12869	652	23	2	226	2	PZP	12	9304243	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08		9304243	124547652	35	3529											
SACS	26278	broad.mit.edu	37	chr13	23907744	23907744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgtagcatgttccaaattttCcaatgcttacatagcggcca	11	12	7	11	2	0	0	0	0	0	0	2	0	2	0	3	1	4	4	3	1	5	6			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr13:23907744C>T	uc001uon.2	-	9	10860	c.10271G>A	c.(10270-10272)gGa>gAa	p.G3424E	SACS_uc001uoo.2_Missense_Mutation_p.G3277E|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3424					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCCAAATTTTCCAATGCTTAC	0.358													33	81					0	0	1	0	0	T	23907744	C	T	23907744	3	4	82	1	0	0	0	0	1	0	0	0	13804	855	30	3	3472	3	SACS	13	23907744	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08		23907744	91262134	36	3530											
OR4N2	390429	broad.mit.edu	37	chr14	20296476	20296476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgtcatttatacccttcGcaaccaggaagtgaaagctt	11	12	7	11	1	1	1	1	1	0	0	3	2	2	2	3	1	3	2	3	1	5	5			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr14:20296476G>A	uc010tkv.2	+	0	869	c.869G>A	c.(868-870)cGc>cAc	p.R290H		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TATACCCTTCGCAACCAGGAA	0.403													19	42					0	0	1	0	0	A	20296476	G	A	20296476	3	1	82	1	0	0	0	0	1	0	0	0	11077	1087	38	1	871	1	OR4N2	14	20296476	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08		20296476	87053064	37	3531											
RPL10L	140801	broad.mit.edu	37	chr14	47120456	47120456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatatgaatcttctggcGtccagggaacttgaacttgg	10	11	13	7	1	2	3	0	2	2	1	3	5	3	4	1	4	2	0	1	4	4	4			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr14:47120456G>A	uc001wwg.3	-	0	573	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	Homo sapiens ribosomal protein L10-like (RPL10L), mRNA.	162					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	p.R162S(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						ATCTTCTGGCGTCCAGGGAAC	0.502													44	82					0	0	1	0	0	A	47120456	G	A	47120456	3	1	82	1	0	0	0	0	1	0	0	0	13556	1145	40	1	164	1	RPL10L	14	47120456	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	26823980	47120456	60229084	38	3532											
BMP4	652	broad.mit.edu	37	chr14	54417301	54417301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagtttggctgcttctcccGggtccagcgaaggaccgcag	7	9	13	12	3	1	0	0	0	1	0	3	2	2	1	3	3	2	4	3	3	2	3	rs140590144	byFrequency	TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr14:54417301G>A	uc001xal.4	-	2	863	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W	BMP4_uc010aoh.3_Missense_Mutation_p.R226W|BMP4_uc001xao.4_Missense_Mutation_p.R226W|BMP4_uc001xan.4_Missense_Mutation_p.R226W	NM_130851	NP_570912	P12644	BMP4_HUMAN	Homo sapiens bone morphogenetic protein 4 (BMP4), transcript variant 3, mRNA.	226			R -> W.		BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|SMAD protein signal transduction|activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of MAP kinase activity|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of SMAD protein import into nucleus|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						TGCTTCTCCCGGGTCCAGCGA	0.572													6	118					0	0	1	0	0	A	54417301	G	A	54417301	3	1	82	1	0	0	0	0	1	0	0	0	1462	1115	39	2	554	2	BMP4	14	54417301	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	7296845	54417301	52932239	39	3533											
NEK9	91754	broad.mit.edu	37	chr14	75574067	75574067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcacacagacagtgaaatCatcaccacatgacacctgac	16	6	6	13	0	3	4	3	3	0	1	3	4	3	4	2	0	0	0	2	0	1	0			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr14:75574067C>T	uc001xrl.3	-	10	1460	c.1306G>A	c.(1306-1308)Gat>Aat	p.D436N	NEK9_uc001xrk.3_5'UTR	NM_033116	NP_149107	Q8TD19	NEK9_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 9 (NEK9), mRNA.	436					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		ACAGTGAAATCATCACCACAT	0.468													30	51					0	0	1	0	0	T	75574067	C	T	75574067	3	4	82	1	0	0	0	0	1	0	0	0	10331	826	29	3	1681	3	NEK9	14	75574067	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	21156766	75574067	31775473	40	3534											
NEK9	91754	broad.mit.edu	37	chr14	75574125	75574125	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttttccacatgctttggCtgtcgataggaggctttgtc	7	15	10	9	1	0	0	0	0	0	0	3	2	1	1	1	3	2	3	1	3	2	5			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr14:75574125C>T	uc001xrl.3	-	10	1402	c.1248G>A	c.(1246-1248)caG>caA	p.Q416Q	NEK9_uc001xrk.3_5'UTR	NM_033116	NP_149107	Q8TD19	NEK9_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 9 (NEK9), mRNA.	416					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		CATGCTTTGGCTGTCGATAGG	0.453													13	33					0	0	1	0	0	T	75574125	C	T	75574125	2	4	82	1	0	0	0	0	0	0	0	1	10331	796	28	3		3	NEK9	14	75574125	Silent	SNP	C	TCGA-DU-7006-01A-11D-2024-08	58	75574125	31775415	41	3535											
AK7	122481	broad.mit.edu	37	chr14	96875258	96875258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacggtgatgacttgggcgCgctccaaagccctggacccc	7	6	13	15	4	0	2	0	2	0	0	1	4	1	3	4	3	1	1	4	3	1	1			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr14:96875258C>T	uc001yfn.2	+	3	522	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	160					cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GACTTGGGCGCGCTCCAAAGC	0.473													12	28					0	0	1	0	0	T	96875258	C	T	96875258	3	4	82	1	0	0	0	0	1	0	0	0	444	768	27	1	492	1	AK7	14	96875258	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	21301133	96875258	10474282	42	3536											
AHNAK2	113146	broad.mit.edu	37	chr14	105415522	105415522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcccttgatgtccacctggGggcccttgaggtccactttg	4	11	13	13	0	0	2	0	2	0	0	2	2	2	2	5	4	0	0	5	4	0	3			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr14:105415522G>A	uc010axc.1	-	6	6386	c.6266C>T	c.(6265-6267)cCc>cTc	p.P2089L	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P1989L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2089						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCCACCTGGGGGCCCTTGAG	0.617													70	158					0	0	1	0	0	A	105415522	G	A	105415522	3	1	82	1	0	0	0	0	1	0	0	0	415	1232	43	3	11125	3	AHNAK2	14	105415522	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	8540264	105415522	1934018	43	3537											
ZFP106	64397	broad.mit.edu	37	chr15	42742995	42742995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttttttgagatattctttGgatcttgcttttgagacaat	8	21	8	4	0	2	2	0	2	2	2	2	5	2	3	0	1	1	2	0	1	2	9			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr15:42742995G>A	uc001zpw.3	-	1	1733	c.1406C>T	c.(1405-1407)cCa>cTa	p.P469L	ZFP106_uc001zpu.3_5'Flank|ZFP106_uc001zpv.3_Intron|ZFP106_uc001zpx.3_Intron|ZFP106_uc010udh.1_Missense_Mutation_p.P252L|ZFP106_uc001zpy.1_Missense_Mutation_p.P492L	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA.	469						nucleolus	zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	61		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		GATATTCTTTGGATCTTGCTT	0.398													66	159					0	0	1	0	0	A	42742995	G	A	42742995	3	1	82	1	0	0	0	0	1	0	0	0	17634	1348	47	3	4317	3	ZFP106	15	42742995	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08		42742995	59788397	44	3538											
FBN1	2200	broad.mit.edu	37	chr15	48902974	48902974	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccagatgggcaagtgcaCatatttggcctcgaacaaaa	14	8	10	9	1	0	2	0	1	0	1	1	3	0	2	2	2	2	2	2	2	5	2			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr15:48902974C>T	uc001zwx.2	-	3	692	c.297G>A	c.(295-297)atG>atA	p.M99I		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	99	EGF-like 1.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGCAAGTGCACATATTTGGCC	0.428													13	31					0	0	1	0	0	T	48902974	C	T	48902974	3	4	82	1	0	0	0	0	1	0	0	0	5702	478	17	3	8570	3	FBN1	15	48902974	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	6159979	48902974	53628418	45	3539											
ALPK3	57538	broad.mit.edu	37	chr15	85383197	85383197	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgaaagcggcgattgagcggGgctcaagcgccgggcccctc	7	4	16	14	6	1	1	1	1	0	0	2	3	1	1	3	4	3	1	3	4	2	1			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr15:85383197G>A	uc002ble.3	+	4	1460	c.1293G>A	c.(1291-1293)ggG>ggA	p.G431G		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	431					heart development	nucleus	ATP binding|protein serine/threonine kinase activity	p.G431G(3)|p.G431R(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GATTGAGCGGGGCTCAAGCGC	0.672													12	17					0	0	1	0	0	A	85383197	G	A	85383197	2	1	82	1	0	0	0	0	0	0	0	1	546	1219	43	3		3	ALPK3	15	85383197	Silent	SNP	G	TCGA-DU-7006-01A-11D-2024-08	36480223	85383197	17148195	46	3540											
ST8SIA2	8128	broad.mit.edu	37	chr15	92973307	92973307	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcagaggtacaatcagaTcagctgtgaacagcttacat	14	8	11	8	0	2	3	2	1	0	2	2	4	2	3	0	2	5	4	0	2	4	2			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr15:92973307T>G	uc002bra.3	+	1	282	c.127T>G	c.(127-129)Tca>Gca	p.S43A	ST8SIA2_uc002brb.3_Intron	NM_006011	NP_006002	Q92186	SIA8B_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 (ST8SIA2), mRNA.	43					N-glycan processing|axon guidance|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			TACAATCAGATCAGCTGTGAA	0.388													21	29					0	0	1	0	0	G	92973307	T	G	92973307	3	3	82	1	0	0	0	0	1	0	0	0	15231	1435	50	5	133	5	ST8SIA2	15	92973307	Missense_Mutation	SNP	T	TCGA-DU-7006-01A-11D-2024-08	7590110	92973307	9558085	47	3541											
PKD1L2	114780	broad.mit.edu	37	chr16	81157276	81157276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagcgctggtctctagcGtcagcgtgacaatgcagaac	10	7	12	12	3	2	3	1	1	1	2	3	3	2	3	1	1	5	2	1	1	3	1			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr16:81157276G>A	uc002fgh.1	-	38	6458	c.6458C>T	c.(6457-6459)aCg>aTg	p.T2153M	PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	2155					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGTCTCTAGCGTCAGCGTGAC	0.592													31	80					0	0	1	0	0	A	81157276	G	A	81157276	3	1	82	1	0	0	0	0	1	0	0	0	11965	1145	40	1	943	1	PKD1L2	16	81157276	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08		81157276	9197477	48	3542											
NF1	4763	broad.mit.edu	37	chr17	29654857	29654857	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagttctgacccgagtttacGgtaggttttttaaaattctc	9	16	8	8	2	2	1	0	1	2	0	3	2	2	1	1	2	1	4	1	2	4	8			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr17:29654857G>A	uc002hgg.3	+	38	5992	c.5609_splice	c.e38+1	p.R1870_splice	NF1_uc002hgh.3_Splice_Site_p.R1849_splice|NF1_uc002hgi.1_Splice_Site_p.R882_splice|NF1_uc010cso.3_Splice_Site_p.R58_splice	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1870					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)|p.S1871fs*13(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCGAGTTTACGGTAGGTTTTT	0.378			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			11	43					0	0	1	0	0	A	29654857	G	A	29654857	5	1	82	1	0	0	0	0	0	0	1	0	10356	1130	39	2	5820	2	NF1	17	29654857	Splice_Site	SNP	G	TCGA-DU-7006-01A-11D-2024-08		29654857	51540353	49	3543											
CLTC	1213	broad.mit.edu	37	chr17	57746287	57746287	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctacgatcctgagcgagtcAagaattttcttaaggtaagt	12	12	10	7	2	2	2	1	1	1	1	3	4	3	2	1	1	2	2	1	1	5	5			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr17:57746287A>C	uc002ixr.1	+	13	2733	c.2290A>C	c.(2290-2292)Aag>Cag	p.K764Q	CLTC_uc002ixp.3_Missense_Mutation_p.K760Q|CLTC_uc002ixq.1_Missense_Mutation_p.K760Q	NM_004859	NP_004850	Q00610	CLH1_HUMAN	Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.	760	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TGAGCGAGTCAAGAATTTTCT	0.373			T	"ALK, TFE3"	"ALCL, renal "								5	72					0	0	1	0	0	C	57746287	A	C	57746287	3	2	82	1	0	0	0	0	1	0	0	0	3566	131	5	5	2332	5	CLTC	17	57746287	Missense_Mutation	SNP	A	TCGA-DU-7006-01A-11D-2024-08	28091430	57746287	23448923	50	3544											
GATA6	2627	broad.mit.edu	37	chr18	19751547	19751547	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgagcagccggaggagatgTaccagaccctcgccgctctc	8	5	12	16	4	1	2	0	0	1	2	3	5	1	3	5	2	3	3	5	2	1	1			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr18:19751547T>A	uc002ktt.1	+	1	707	c.442T>A	c.(442-444)Tac>Aac	p.Y148N	GATA6_uc002ktu.1_Missense_Mutation_p.Y148N	NM_005257	NP_005248	Q92908	GATA6_HUMAN	Homo sapiens GATA binding protein 6 (GATA6), mRNA.	148					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GGAGGAGATGTACCAGACCCT	0.736													14	24					0	0	1	0	0	A	19751547	T	A	19751547	3	1	82	1	0	0	0	0	1	0	0	0	6258	1638	57	5	444	5	GATA6	18	19751547	Missense_Mutation	SNP	T	TCGA-DU-7006-01A-11D-2024-08		19751547	58325701	51	3545											
ATCAY	85300	broad.mit.edu	37	chr19	3907776	3907776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacatgcccggggacagcGcggatctatttggggacggc	9	6	16	10	4	1	1	0	0	1	1	1	4	1	4	1	6	3	0	1	6	2	2			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr19:3907776G>A	uc010xhz.2	+	5	904	c.421G>A	c.(421-423)Gcg>Acg	p.A141T	ATCAY_uc002lyy.4_Missense_Mutation_p.A135T|ATCAY_uc010dts.3_5'Flank			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	135					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CGGGGACAGCGCGGATCTATT	0.657													5	51					0	0	1	0	0	A	3907776	G	A	3907776	3	1	82	1	0	0	0	0	1	0	0	0	1077	1087	38	1	417	1	ATCAY	19	3907776	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08		3907776	55221207	52	3546											
FBN3	84467	broad.mit.edu	37	chr19	8152978	8152978	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggccaggctcaaagccGtcagcacaggcacattcgaa	13	5	11	12	2	2	1	2	1	0	0	3	2	2	1	2	3	2	3	2	3	2	1			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr19:8152978G>A	uc002mjf.3	-	50	6479	c.6462C>T	c.(6460-6462)gaC>gaT	p.D2154D	FBN3_uc002mje.3_5'UTR	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2154	EGF-like 34; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCTCAAAGCCGTCAGCACAGG	0.617													29	52					0	0	1	0	0	A	8152978	G	A	8152978	2	1	82	1	0	0	0	0	0	0	0	1	5704	1136	40	1		1	FBN3	19	8152978	Silent	SNP	G	TCGA-DU-7006-01A-11D-2024-08	4245202	8152978	50976005	53	3547											
ZNF491	126069	broad.mit.edu	37	chr19	11917410	11917410	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacacacaggagagaagccGtacaaatgtaaggaatgtgg	17	5	12	7	1	0	1	0	0	0	1	0	4	0	3	1	3	2	2	1	3	5	2			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr19:11917410G>A	uc002mso.1	+	2	927	c.642G>A	c.(640-642)ccG>ccA	p.P214P	ZNF491_uc021upj.1_Silent_p.P214P	NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN	Homo sapiens zinc finger protein 491 (ZNF491), mRNA.	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P214P(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						GAGAGAAGCCGTACAAATGTA	0.423													3	39					0	0	1	0	0	A	11917410	G	A	11917410	2	1	82	1	0	0	0	0	0	0	0	1	17939	1132	40	1		1	ZNF491	19	11917410	Silent	SNP	G	TCGA-DU-7006-01A-11D-2024-08	3764432	11917410	47211573	54	3548											
PSG2	5670	broad.mit.edu	37	chr19	43585278	43585278	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtaccagatgtagccagtaAgattctggggcaaattgtgg	11	11	13	6	0	1	2	0	0	1	2	1	2	1	2	2	3	2	4	2	3	4	5			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr19:43585278A>T	uc002ovr.3	-	1	357	c.185T>A	c.(184-186)cTt>cAt	p.L62H	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	62	Ig-like V-type.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GTAGCCAGTAAGATTCTGGGG	0.453													64	158					0	0	1	0	0	T	43585278	A	T	43585278	3	4	82	1	0	0	0	0	1	0	0	0	12655	72	3	5	838	5	PSG2	19	43585278	Missense_Mutation	SNP	A	TCGA-DU-7006-01A-11D-2024-08	31667868	43585278	15543705	55	3549											
PRR12	57479	broad.mit.edu	37	chr19	50098329	50098329	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacctcccaactcagttcaAcctgctggcttcctcttccg	6	11	5	19	1	3	0	2	0	1	0	6	0	6	0	6	1	3	3	6	1	2	3			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr19:50098329A>G	uc002poo.4	+	3	737	c.737A>G	c.(736-738)aAc>aGc	p.N246S		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	32	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		ACTCAGTTCAACCTGCTGGCT	0.697													5	14					0	0	1	0	0	G	50098329	A	G	50098329	3	3	82	1	0	0	0	0	1	0	0	0	12584	43	2	3	751	3	PRR12	19	50098329	Missense_Mutation	SNP	A	TCGA-DU-7006-01A-11D-2024-08	6513051	50098329	9030654	56	3550											
C20orf194	25943	broad.mit.edu	37	chr20	3236735	3236735	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaggtagcactcctgctGcccgctgctgtcttgagata	8	10	10	13	1	1	1	0	1	1	1	2	2	2	1	2	1	4	5	2	1	3	3			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr20:3236735G>A	uc002wii.2	-	33	3229	c.3178C>T	c.(3178-3180)Cag>Tag	p.Q1060*	C20orf194_uc002wij.3_Nonsense_Mutation_p.Q799*|C20orf194_uc002wik.2_Nonsense_Mutation_p.Q734*	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	Homo sapiens chromosome 20 open reading frame 194 (C20orf194), mRNA.	1060										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CACTCCTGCTGCCCGCTGCTG	0.557													9	70					0	0	1	0	0	A	3236735	G	A	3236735	4	1	82	1	0	0	0	0	0	1	0	0	2099	1328	46	3	371	3	C20orf194	20	3236735	Nonsense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08		3236735	59788785	57	3551											
C20orf79	140856	broad.mit.edu	37	chr20	18794627	18794627	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacattaggcttcacatcagGgaagtgggagctcaattggt	11	10	13	7	0	3	0	3	0	0	0	3	3	3	2	0	4	1	2	0	4	3	3	rs143971555		TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr20:18794627G>A	uc002wrk.3	+	0	258	c.168G>A	c.(166-168)agG>agA	p.R56R	C20orf78_uc002wrj.2_Intron	NM_178483	NP_848578	Q9UJQ7	CT079_HUMAN	Homo sapiens chromosome 20 open reading frame 79 (C20orf79), mRNA.	56	SCP2.						sterol binding	p.R56R(2)|p.R56M(1)		NS(1)|breast(1)|large_intestine(2)|lung(4)|skin(4)	12						TTCACATCAGGGAAGTGGGAG	0.478													22	42					0	0	1	0	0	A	18794627	G	A	18794627	2	1	82	1	0	0	0	0	0	0	0	1	2119	1223	43	3		3	C20orf79	20	18794627	Silent	SNP	G	TCGA-DU-7006-01A-11D-2024-08	15557892	18794627	44230893	58	3552											
SEMG2	6407	broad.mit.edu	37	chr20	43851148	43851148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatatcatacccgtcttcacGtacagaagaaagacaacttc	16	9	5	11	2	3	3	2	0	1	3	4	3	3	3	1	0	3	1	1	0	7	5	rs145586123		TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr20:43851148G>A	uc010ggz.3	+	1	932	c.875G>A	c.(874-876)cGt>cAt	p.R292H	SEMG2_uc002xnk.3_Missense_Mutation_p.R292H|SEMG2_uc002xnl.3_Missense_Mutation_p.R292H	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	292	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	p.R292H(2)|p.R292L(2)|p.R292S(1)|p.S291P(1)		autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CCGTCTTCACGTACAGAAGAA	0.398													30	59					0	0	1	0	0	A	43851148	G	A	43851148	3	1	82	1	0	0	0	0	1	0	0	0	14045	1145	40	1	881	1	SEMG2	20	43851148	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	25056521	43851148	19174372	59	3553											
PRIC285	85441	broad.mit.edu	37	chr20	62193043	62193043	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgggaactcgctggcctcAgcctgctcactgtacacacg	8	8	10	15	2	2	0	2	0	0	0	3	1	2	1	2	2	4	3	2	2	2	1			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr20:62193043A>G	uc002yfm.2	-	12	7639	c.6747T>C	c.(6745-6747)gcT>gcC	p.A2249A	PRIC285_uc002yfl.1_Silent_p.A1680A	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	2249					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			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)			CGCTGGCCTCAGCCTGCTCAC	0.662													3	35					0	0	1	0	0	G	62193043	A	G	62193043	2	3	82	1	0	0	0	0	0	0	0	1	12485	175	7	4		4	PRIC285	20	62193043	Silent	SNP	A	TCGA-DU-7006-01A-11D-2024-08	18341895	62193043	832477	60	3554											
MCM3AP	8888	broad.mit.edu	37	chr21	47700424	47700424	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcacttattttcttcctGtgccaaaagatagccatgtc	11	14	5	11	0	2	1	1	0	1	1	4	1	3	1	3	0	3	0	3	0	5	5			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr21:47700424G>A	uc002zir.1	-	2	1545	c.1509C>T	c.(1507-1509)caC>caT	p.H503H		NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	503					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TTTTCTTCCTGTGCCAAAAGA	0.363													29	45					0	0	1	0	0	A	47700424	G	A	47700424	2	1	82	1	0	0	0	0	0	0	0	1	9388	1368	48	3		3	MCM3AP	21	47700424	Silent	SNP	G	TCGA-DU-7006-01A-11D-2024-08		47700424	429471	61	3555											
TMPRSS6	164656	broad.mit.edu	37	chr22	37462868	37462868	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgcccgggggactcacctGacaggcatccttcttgccct	6	9	10	16	1	2	1	1	1	1	0	3	2	3	2	4	3	2	1	4	3	0	2			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr22:37462868G>A	uc003aqt.1	-	17	2376	c.2314C>T	c.(2314-2316)Cag>Tag	p.Q772*	TMPRSS6_uc003aqs.1_Nonsense_Mutation_p.Q759*	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	759	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GGACTCACCTGACAGGCATCC	0.617													12	38					0	0	1	0	0	A	37462868	G	A	37462868	4	1	82	1	0	0	0	0	0	1	0	0	16248	1299	45	3	168	3	TMPRSS6	22	37462868	Nonsense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08		37462868	13841698	62	3556											
SBF1	6305	broad.mit.edu	37	chr22	50900448	50900448	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtgcagaccttgtccacaaAgcggttgatgaagcggacca	11	7	12	11	3	0	3	0	2	0	1	1	4	1	4	3	2	3	2	3	2	2	2			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr22:50900448A>T	uc003blh.3	-	19	2692	c.2497T>A	c.(2497-2499)Ttt>Att	p.F833I	SBF1_uc011arx.2_Missense_Mutation_p.F497I|SBF1_uc003bli.2_Missense_Mutation_p.F834I	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	833					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		TTGTCCACAAAGCGGTTGATG	0.622													42	80					0	0	1	0	0	T	50900448	A	T	50900448	3	4	82	1	0	0	0	0	1	0	0	0	13858	72	3	5	3272	5	SBF1	22	50900448	Missense_Mutation	SNP	A	TCGA-DU-7006-01A-11D-2024-08	13437580	50900448	404118	63	3557											
SRPX	8406	broad.mit.edu	37	chrX	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-																															gctgcggctgggcgggacgcGcagcagcagcagcagcagca																								rs72445954		TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chrX:38079976_38079978delGCA	uc004ddy.2	-	0	200_202	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	SRPX_uc011mki.2_In_Frame_Del_p.L23del|SRPX_uc004ddz.2_In_Frame_Del_p.L23del|SRPX_uc011mkh.2_In_Frame_Del_p.L23del	NM_006307	NP_006298	P78539	SRPX_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked (SRPX), transcript variant 1, mRNA.	23			Missing.		cell adhesion	cell surface|membrane		p.L23delL(4)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	11	---	---	---	---						-	38079978	GCA	-	38079976	7	5	82	1	0	1	0	1	0	0	0	0	15163	1087	38	0	1364	0	SRPX	23	38079976	In_Frame_Del	DEL	GCA	TCGA-DU-7006-01A-11D-2024-08		38079976	117190584	64	3558											
TBC1D25	4943	broad.mit.edu	37	chrX	48418954	48418954	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cccagacccactgctctcctCcttttcccaccctgattccc	5	11	3	22	0	1	2	0	1	1	1	5	2	4	2	7	0	1	1	7	0	0	3			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chrX:48418954C>G	uc011mmb.1	+	5	1756	c.1670C>G	c.(1669-1671)tCc>tGc	p.S557C	TBC1D25_uc004dka.1_Missense_Mutation_p.S553C|TBC1D25_uc011mly.1_Missense_Mutation_p.S495C|TBC1D25_uc004dkb.1_Missense_Mutation_p.S299C|TBC1D25_uc011mlz.1_Missense_Mutation_p.S299C|TBC1D25_uc011mma.1_Missense_Mutation_p.S299C|TBC1D25_uc004dkc.1_Missense_Mutation_p.S299C|TBC1D25_uc011mmd.1_Missense_Mutation_p.S299C|TBC1D25_uc011mmc.1_Missense_Mutation_p.S299C	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	Homo sapiens TBC1 domain family, member 25 (TBC1D25), mRNA.	553						intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						CTGCTCTCCTCCTTTTCCCAC	0.582													68	101					0	0	1	0	0	G	48418954	C	G	48418954	3	3	82	1	0	0	0	0	1	0	0	0	15612	855	30	5	1680	5	TBC1D25	23	48418954	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	10338978	48418954	106851606	65	3559											
OGT	8473	broad.mit.edu	37	chrX	70784541	70784541	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttaccagaagatgccatcGtatactgtaactttaatcag	13	12	8	8	1	1	2	1	0	0	2	2	2	1	2	2	1	4	3	2	1	6	6			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chrX:70784541G>T	uc004eaa.2	+	18	2765	c.2527G>T	c.(2527-2529)Gta>Tta	p.V843L	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Missense_Mutation_p.V833L|OGT_uc004eac.3_Missense_Mutation_p.V704L|OGT_uc004ead.3_Missense_Mutation_p.V462L	NM_181672	NP_858058	O15294	OGT1_HUMAN	Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.	843					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	MLL5-L complex|cytosol	enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding	p.V833I(1)|p.V843I(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					AGATGCCATCGTATACTGTAA	0.403													21	50					4.96729e-08	5.23151e-08	1	1	0	T	70784541	G	T	70784541	3	4	82	1	0	0	0	0	1	0	0	0	10847	1145	40	5	2601	5	OGT	23	70784541	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	22365587	70784541	84486019	66	3560											
FAM199X	139231	broad.mit.edu	37	chrX	103411604	103411604	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcctggacatcagcgacttCggctgccagctgtcctcctg	5	10	11	15	2	1	0	1	0	0	0	4	2	3	1	4	2	4	2	4	2	0	1			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chrX:103411604C>T	uc004elw.3	+	0	449	c.138C>T	c.(136-138)ttC>ttT	p.F46F		NM_207318	NP_997201	Q6PEV8	F199X_HUMAN	Homo sapiens family with sequence similarity 199, X-linked (FAM199X), mRNA.	46								p.F46F(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						TCAGCGACTTCGGCTGCCAGC	0.657													4	37					0	0	1	0	0	T	103411604	C	T	103411604	2	4	82	1	0	0	0	0	0	0	0	1	5530	883	31	2		2	FAM199X	23	103411604	Silent	SNP	C	TCGA-DU-7006-01A-11D-2024-08	32627063	103411604	51858956	67	3561											
CT47B1	643311	broad.mit.edu	37	chrX	120009416	120009416	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgtcggggccggagtCgccgccctcctggttaccag	3	8	15	15	4	0	0	0	0	0	0	3	1	1	1	5	4	2	3	5	4	1	1			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chrX:120009416C>A	uc011muc.2	-	0	364	c.109G>T	c.(109-111)Gac>Tac	p.D37Y		NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN	Homo sapiens cancer/testis antigen family 47, member B1 (CT47B1), mRNA.	37										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GGGCCGGAGTCGCCGCCCTCC	0.736													5	105					0.000602214	0.000614631	1	1	0	A	120009416	C	A	120009416	3	1	82	1	0	0	0	0	1	0	0	0	3989	884	31	5	798	5	CT47B1	23	120009416	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	16597812	120009416	35261144	68	3562											
THOC2	57187	broad.mit.edu	37	chrX	122747329	122747329	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctttgcctgaagattttGacttatttttttccttgtct	5	24	5	7	0	2	3	0	2	2	1	3	3	3	3	2	0	1	0	2	0	2	9			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chrX:122747329G>C	uc004etu.3	-	35	4630	c.4598C>G	c.(4597-4599)tCa>tGa	p.S1533*	THOC2_uc004etv.4_5'Flank|THOC2_uc010nqt.1_Non-coding_Transcript|THOC2_uc004etw.1_Nonsense_Mutation_p.S354*	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	1533	Lys-rich.				RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding|protein binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TGAAGATTTTGACTTATTTTT	0.323													35	65					0	0	1	0	0	C	122747329	G	C	122747329	4	2	82	1	0	0	0	0	0	1	0	0	15862	1294	45	5	195	5	THOC2	23	122747329	Nonsense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	2737913	122747329	32523231	69	3563											
GPC3	2719	broad.mit.edu	37	chrX	133087087	133087087	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaactcaccttggaaaacCgcagcattctgaataattaa	16	9	6	10	1	2	2	1	1	1	1	2	3	2	3	2	1	3	2	2	1	6	4			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chrX:133087087C>T	uc010nrn.2	-	1	524	c.327G>A	c.(325-327)gcG>gcA	p.A109A	GPC3_uc004exe.2_Silent_p.A109A|GPC3_uc011mvh.2_Intron|GPC3_uc010nro.2_Intron|GPC3_uc010nrp.2_5'UTR	NM_001164617	NP_001158089	P51654	GPC3_HUMAN	Homo sapiens glypican 3 (GPC3), transcript variant 1, mRNA.	109						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CTTGGAAAACCGCAGCATTCT	0.378			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome				70	154					0	0	1	0	0	T	133087087	C	T	133087087	2	4	82	1	0	0	0	0	0	0	0	1	6599	639	23	2		2	GPC3	23	133087087	Silent	SNP	C	TCGA-DU-7006-01A-11D-2024-08	10339758	133087087	22183473	70	3564											
MAGEC1	9947	broad.mit.edu	37	chrX	140996473	140996473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccatgctaaagaataccGtccctattacctttccatcc	10	12	5	14	1	0	1	0	0	0	1	3	1	3	1	6	1	3	1	6	1	6	5	rs147835720		TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chrX:140996473G>A	uc004fbt.3	+	3	3607	c.3283G>A	c.(3283-3285)Gtc>Atc	p.V1095I	MAGEC1_uc010nsl.2_Missense_Mutation_p.V162I|MAGEC1_uc022cfi.1_Missense_Mutation_p.V754I	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	1095	MAGE.						protein binding	p.T1094T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGAATACCGTCCCTATTAC	0.453										HNSCC(15;0.026)			10	198					0	0	1	0	0	A	140996473	G	A	140996473	3	1	82	1	0	0	0	0	1	0	0	0	9180	1145	40	1	3289	1	MAGEC1	23	140996473	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	7909386	140996473	14274087	71	3565											
BSDC1	55108	broad.mit.edu	37	chr1	32842101	32842101	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatgcctctagcagcttttgGgacaggtccttgggtagcac	7	11	13	10	0	1	0	0	0	1	0	2	2	2	1	2	3	4	4	2	3	2	5			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr1:32842101G>T	uc001bvi.3	-	8	1016	c.969C>A	c.(967-969)tcC>tcA	p.S323S	BSDC1_uc001bvh.4_Silent_p.S306S|BSDC1_uc010ohg.2_Silent_p.S323S|BSDC1_uc010ohh.2_Silent_p.S250S|BSDC1_uc010ohi.2_Silent_p.S211S|BSDC1_uc001bvg.4_Non-coding_Transcript|BSDC1_uc001bvj.3_Silent_p.S202S			Q9NW68	BSDC1_HUMAN	Homo sapiens BSD domain containing 1 (BSDC1), transcript variant 1, mRNA.	306							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCAGCTTTTGGGACAGGTCCT	0.597													41	58					1.04594e-18	1.13167e-18	1	1	0	T	32842101	G	T	32842101	2	4	83	1	0	0	0	0	0	0	0	1	1528	1219	43	5		5	BSDC1	1	32842101	Silent	SNP	G	TCGA-DU-7007-01A-11D-2024-08		32842101	216408520	1	3566											
OLFM3	118427	broad.mit.edu	37	chr1	102290602	102290602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagctttttcatgcagtcaCgaagtcttgtttccaagctc	8	16	7	10	1	3	0	2	0	1	0	5	1	4	0	1	0	3	4	1	0	3	5			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr1:102290602C>T	uc001duf.2	-	3	703	c.632G>A	c.(631-633)cGt>cAt	p.R211H	OLFM3_uc001dug.2_Missense_Mutation_p.R191H|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_Missense_Mutation_p.R116H|OLFM3_uc001due.2_Non-coding_Transcript	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	Homo sapiens olfactomedin 3 (OLFM3), mRNA.	211						extracellular region		p.T210T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CATGCAGTCACGAAGTCTTGT	0.373													7	40					0	0	1	0	0	T	102290602	C	T	102290602	3	4	83	1	0	0	0	0	1	0	0	0	10854	536	19	1	816	1	OLFM3	1	102290602	Missense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08	69448501	102290602	146960019	2	3567											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								26	37					0	0	1	0	0	T	209113112	C	T	209113112	3	4	83	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08		209113112	34086261	3	3568											
CNTN3	5067	broad.mit.edu	37	chr3	74419100	74419100	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagctgctggaagagtttctGgaaactgaacttctatttta	11	15	9	6	0	2	2	0	1	2	1	2	4	2	4	0	2	4	3	0	2	6	6			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr3:74419100G>C	uc003dpm.1	-	5	781	c.701C>G	c.(700-702)cCa>cGa	p.P234R		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	234	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AAGAGTTTCTGGAAACTGAAC	0.333													12	59					0	0	1	0	0	C	74419100	G	C	74419100	3	2	83	1	0	0	0	0	1	0	0	0	3642	1348	47	5	2453	5	CNTN3	3	74419100	Missense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08		74419100	123603330	4	3569											
STX19	415117	broad.mit.edu	37	chr3	93733522	93733522	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatattgatttctgtaagtaAgctttcattaaaaacttccc	13	16	5	7	0	2	1	1	1	1	0	3	2	3	1	1	0	2	3	1	0	6	8			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr3:93733522A>G	uc003drh.1	-	1	849	c.592T>C	c.(592-594)Tta>Cta	p.L198L	ARL13B_uc003drc.3_Intron|ARL13B_uc010hop.3_Intron|ARL13B_uc003drf.3_Intron|ARL13B_uc003drg.3_Intron|ARL13B_uc003drd.3_Intron|ARL13B_uc003dre.3_Intron|STX19_uc021xbj.1_Silent_p.L198L	NM_001001850	NP_001001850	Q8N4C7	STX19_HUMAN	Homo sapiens syntaxin 19 (STX19), mRNA.	198					intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity			kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						TCTGTAAGTAAGCTTTCATTA	0.328													11	66					0	0	1	0	0	G	93733522	A	G	93733522	2	3	83	1	0	0	0	0	0	0	0	1	15341	69	3	4		4	STX19	3	93733522	Silent	SNP	A	TCGA-DU-7007-01A-11D-2024-08	19314422	93733522	104288908	5	3570											
PLCH1	23007	broad.mit.edu	37	chr3	155198970	155198970	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagtggcgattcactgcaggGgtgggtgctgagggtttgtt	5	12	19	5	1	1	1	1	1	0	0	1	3	1	1	0	5	2	4	0	5	0	3			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr3:155198970G>A	uc021xge.1	-	22	5146	c.4869C>T	c.(4867-4869)acC>acT	p.T1623T	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Silent_p.T1585T	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1623					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCACTGCAGGGGTGGGTGCTG	0.577													10	62					0	0	1	0	0	A	155198970	G	A	155198970	2	1	83	1	0	0	0	0	0	0	0	1	12037	1219	43	3		3	PLCH1	3	155198970	Silent	SNP	G	TCGA-DU-7007-01A-11D-2024-08	61465448	155198970	42823460	6	3571											
ZBBX	79740	broad.mit.edu	37	chr3	166960403	166960403	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatctgggaactcttctgaGgttaagctgtaaagcttttc	11	14	9	7	0	3	1	0	1	3	0	4	2	3	2	0	2	3	4	0	2	5	5			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr3:166960403G>T	uc011bpc.2	-	20	2620	c.2283C>A	c.(2281-2283)acC>acA	p.T761T	ZBBX_uc003feq.3_Silent_p.T693T|ZBBX_uc003fep.3_Silent_p.T722T	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	722						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ACTCTTCTGAGGTTAAGCTGT	0.368													7	19					5.4927e-09	5.84707e-09	1	1	0	T	166960403	G	T	166960403	2	4	83	1	0	0	0	0	0	0	0	1	17513	987	35	5		5	ZBBX	3	166960403	Silent	SNP	G	TCGA-DU-7007-01A-11D-2024-08	11761433	166960403	31062027	7	3572											
ZNF718	255403	broad.mit.edu	37	chr4	59959	59959	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaataaaacaggttttgtgAtctctaacccagacctggtc	12	13	7	9	0	1	2	0	1	1	1	3	2	1	2	2	2	2	1	2	2	4	5			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr4:59959A>G	uc003fzv.1	+	2	295	c.139A>G	c.(139-141)Atc>Gtc	p.I47V	ZNF718_uc003fzt.4_Missense_Mutation_p.I47V|ZNF718_uc003fzu.1_Non-coding_Transcript|ZNF718_uc010iay.1_Non-coding_Transcript|ZNF718_uc011bus.1_Intron|ZNF718_uc011but.1_Intron	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	47	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		AGGTTTTGTGATCTCTAACCC	0.393													6	87					0	0	1	0	0	G	59959	A	G	59959	3	3	83	1	0	0	0	0	1	0	0	0	18117	333	12	3	149	3	ZNF718	4	59959	Missense_Mutation	SNP	A	TCGA-DU-7007-01A-11D-2024-08		59959	191094317	8	3573											
CXXC4	80319	broad.mit.edu	37	chr4	105412082	105412082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggttggctccgccagctcccCctgaggaggacgaggaggag	7	5	17	12	2	0	1	0	1	0	0	2	6	2	5	4	6	1	3	4	6	0	1			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr4:105412082C>T	uc003hxg.3	-	0	386	c.371G>A	c.(370-372)gGg>gAg	p.G124E	AK094561_uc003hxh.1_5'Flank|CXXC4_uc010ilo.3_Intron	NM_025212	NP_079488	Q9H2H0	CXXC4_HUMAN	Homo sapiens CXXC finger protein 4 (CXXC4), mRNA.	124					Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		GCCAGCTCCCCCTGAGGAGGA	0.602													13	60					0	0	1	0	0	T	105412082	C	T	105412082	3	4	83	1	0	0	0	0	1	0	0	0	4098	623	22	3	233	3	CXXC4	4	105412082	Missense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08	105352123	105412082	85742194	9	3574											
SKP2	6502	broad.mit.edu	37	chr5	36152899	36152899	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaggagattccagaccTgagtagcaacgttgccacca	11	7	9	14	1	0	3	0	1	0	2	2	4	2	3	6	1	3	3	6	1	2	3			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr5:36152899T>A	uc003jkc.2	+	1	255	c.35T>A	c.(34-36)cTg>cAg	p.L12Q	SKP2_uc003jkd.3_Missense_Mutation_p.L12Q|SKP2_uc011cou.2_5'UTR|LMBRD2_uc003jkb.1_5'Flank	NM_005983	NP_005974	Q13309	SKP2_HUMAN	Homo sapiens S-phase kinase-associated protein 2 (p45) (SKP2), transcript variant 1, mRNA.	12					G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation	SCF ubiquitin ligase complex|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATTCCAGACCTGAGTAGCAAC	0.517													15	43					0	0	1	0	0	A	36152899	T	A	36152899	3	1	83	1	0	0	0	0	1	0	0	0	14362	1580	55	5	41	5	SKP2	5	36152899	Missense_Mutation	SNP	T	TCGA-DU-7007-01A-11D-2024-08		36152899	144762361	10	3575											
GABRA6	2559	broad.mit.edu	37	chr5	161118969	161118969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcaccactgttttaactatGaccactttgagcatcagtgc	11	13	6	11	0	2	2	2	2	0	0	2	2	2	2	2	0	3	2	2	0	2	4			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr5:161118969G>A	uc003lyu.2	+	7	1187	c.849G>A	c.(847-849)atG>atA	p.M283I	GABRA6_uc003lyv.2_Missense_Mutation_p.M54I	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	283					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTTTAACTATGACCACTTTGA	0.403										TCGA Ovarian(5;0.080)			10	74					0	0	1	0	0	A	161118969	G	A	161118969	3	1	83	1	0	0	0	0	1	0	0	0	6165	1290	45	3	879	3	GABRA6	5	161118969	Missense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08	124966070	161118969	19796291	11	3576											
ROS1	6098	broad.mit.edu	37	chr6	117746774	117746774	+	Frame_Shift_Del	DEL	T	T	-																															aatccataggcagccaagagTtgcaaaattgacaagcttcg																										TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr6:117746774delT	uc003pxp.1	-	0	245	c.46delA	c.(46-48)actfs	p.T16fs	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	16					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CAGCCAAGAGTTGCAAAATTG	0.378			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								60	91	---	---	---	---						-	117746774	T	-	117746774	7	5	83	1	0	1	0	1	0	0	0	0	13531	1725	60	0	7169	0	ROS1	6	117746774	Frame_Shift_Del	DEL	T	TCGA-DU-7007-01A-11D-2024-08		117746774	53368293	12	3577											
ZP3	7784	broad.mit.edu	37	chr7	76054391	76054391	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagccagccatcctgagaCgtccgtacagcccgtactgg	8	7	12	14	3	0	1	0	1	0	1	2	3	2	2	5	2	5	2	5	2	2	2			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr7:76054391C>T	uc003ufd.4	+	0	120	c.110C>T	c.(109-111)aCg>aTg	p.T37M	ZP3_uc003ufc.4_5'UTR	NM_001110354	NP_009086	P21754	ZP3_HUMAN	Homo sapiens zona pellucida glycoprotein 3 (sperm receptor) (ZP3), transcript variant 1, mRNA.	37					binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of T cell proliferation|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein kinase activity|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	Golgi apparatus|endoplasmic reticulum|extracellular space|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding	p.E36*(1)		endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						CATCCTGAGACGTCCGTACAG	0.587													6	14					0	0	1	0	0	T	76054391	C	T	76054391	3	4	83	1	0	0	0	0	1	0	0	0	18214	536	19	1	112	1	ZP3	7	76054391	Missense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08		76054391	83084272	13	3578											
DLX5	1749	broad.mit.edu	37	chr7	96651603	96651603	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atgcggccagctgaaagctgGaataaatagtcctgggttta	12	10	12	7	1	0	1	0	1	0	0	1	2	1	2	2	3	3	3	2	3	6	4			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr7:96651603G>C	uc003uon.3	-	1	642	c.434C>G	c.(433-435)tCc>tGc	p.S145C	DLX5_uc011kim.1_Missense_Mutation_p.S145C	NM_005221	NP_005212	P56178	DLX5_HUMAN	Homo sapiens distal-less homeobox 5 (DLX5), mRNA.	145					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CTGAAAGCTGGAATAAATAGT	0.498													46	72					0	0	1	0	0	C	96651603	G	C	96651603	3	2	83	1	0	0	0	0	1	0	0	0	4574	1174	41	5	443	5	DLX5	7	96651603	Missense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08	20597212	96651603	62487060	14	3579											
MUC17	140453	broad.mit.edu	37	chr7	100679309	100679309	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcaacagcctttcaacaactCctgctgtcaccagcacacct	11	9	4	17	0	3	0	3	0	0	0	4	0	4	0	4	0	6	2	4	0	3	1			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr7:100679309C>G	uc003uxp.1	+	2	4665	c.4612C>G	c.(4612-4614)Cct>Gct	p.P1538A	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1538	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TTCAACAACTCCTGCTGTCAC	0.473													46	250					0	0	1	0	0	G	100679309	C	G	100679309	3	3	83	1	0	0	0	0	1	0	0	0	9974	855	30	5	4622	5	MUC17	7	100679309	Missense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08	4027706	100679309	58459354	15	3580											
ING3	54556	broad.mit.edu	37	chr7	120590817	120590817	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtggtttttttttttttcTttttttttttttgccggagt	3	28	7	3	1	1	0	0	0	1	0	1	1	1	1	1	2	1	1	1	2	1	12			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr7:120590817T>C	uc003vjn.3	+	1	1	c.-133_splice	c.e1-1		ING3_uc011knr.1_Splice_Site|ING3_uc003vjl.3_Splice_Site|ING3_uc003vjm.1_Splice_Site|ING3_uc003vjo.3_Splice_Site|ING3_uc003vjp.3_Splice_Site|ING3_uc011kns.2_5'Flank	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN	Homo sapiens inhibitor of growth family, member 3 (ING3), transcript variant 1, mRNA.						histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					tttttttttcttttttttttt	0.542													3	4					0	0	1	0	0	C	120590817	T	C	120590817	5	2	83	1	0	0	0	0	0	0	1	0	7737	1623	56	4		4	ING3	7	120590817	Splice_Site	SNP	T	TCGA-DU-7007-01A-11D-2024-08	19911508	120590817	38547846	16	3581											
PAX4	5078	broad.mit.edu	37	chr7	127255046	127255046	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcaattcgagccaccacaGggggtgtagccagccgtggc	8	5	16	12	2	0	0	0	0	0	0	1	1	0	0	4	4	3	2	4	4	2	2			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr7:127255046G>C	uc010lld.1	-	1	430	c.224C>G	c.(223-225)cCt>cGt	p.P75R	PAX4_uc003vmf.2_Missense_Mutation_p.P73R|PAX4_uc003vmg.1_Missense_Mutation_p.P75R|PAX4_uc003vmh.3_Missense_Mutation_p.P73R	NM_006193	NP_006184	O43316	PAX4_HUMAN	Homo sapiens paired box 4 (PAX4), mRNA.	83	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P75T(1)|p.P75P(1)		cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						AGCCACCACAGGGGGTGTAGC	0.582													45	60					0	0	1	0	0	C	127255046	G	C	127255046	3	2	83	1	0	0	0	0	1	0	0	0	11481	1000	35	5	839	5	PAX4	7	127255046	Missense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08	6664229	127255046	31883617	17	3582											
KEL	3792	broad.mit.edu	37	chr7	142655011	142655011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatcagaagtctcagcgttCggttaaagtttaaggaagtc	12	12	10	7	2	3	1	3	0	1	1	6	2	3	2	0	2	1	3	0	2	5	4			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr7:142655011C>T	uc003wcb.3	-	5	785	c.575G>A	c.(574-576)cGa>cAa	p.R192Q		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	192					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.R192Q(2)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TCTCAGCGTTCGGTTAAAGTT	0.522													16	40					0	0	1	0	0	T	142655011	C	T	142655011	3	4	83	1	0	0	0	0	1	0	0	0	8142	884	31	2	1679	2	KEL	7	142655011	Missense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08	15399965	142655011	16483652	18	3583											
COL14A1	7373	broad.mit.edu	37	chr8	121290392	121290392	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgatcccagaacagaatttAaactaaatgcttacaaaacc	19	9	4	9	0	0	3	0	1	0	2	1	3	1	3	2	0	5	1	2	0	9	4			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr8:121290392A>T	uc003yox.3	+	26	3521	c.3256A>T	c.(3256-3258)Aaa>Taa	p.K1086*	COL14A1_uc003yoz.3_Nonsense_Mutation_p.K51*	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1086	VWFA 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AACAGAATTTAAACTAAATGC	0.378													52	59					0	0	1	0	0	T	121290392	A	T	121290392	4	4	83	1	0	0	0	0	0	1	0	0	3671	363	13	5	3358	5	COL14A1	8	121290392	Nonsense_Mutation	SNP	A	TCGA-DU-7007-01A-11D-2024-08		121290392	25073630	19	3584											
BICD2	23299	broad.mit.edu	37	chr9	95481306	95481306	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcattgttgcacatgcacaCgtggtggtagagattggcca	9	11	12	9	1	1	1	1	0	0	1	1	2	1	1	1	3	2	4	1	3	1	4			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr9:95481306C>T	uc004asp.1	-	4	1678	c.1621G>A	c.(1621-1623)Gtg>Atg	p.V541M	BICD2_uc004aso.1_Missense_Mutation_p.V541M	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN	Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA.	541					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	Golgi apparatus|cytoplasmic vesicle|cytoskeleton|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CACATGCACACGTGGTGGTAG	0.657													18	61					0	0	1	0	0	T	95481306	C	T	95481306	3	4	83	1	0	0	0	0	1	0	0	0	1429	536	19	1	968	1	BICD2	9	95481306	Missense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08		95481306	45732125	20	3585											
DBH	1621	broad.mit.edu	37	chr9	136501814	136501814	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtggtgctctggaccgatggGgacactgcctattttgcggt	5	12	15	9	2	1	0	0	0	1	0	1	3	1	2	2	5	3	1	2	5	1	3			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr9:136501814G>A	uc004cel.3	+	0	330	c.321G>A	c.(319-321)ggG>ggA	p.G107G		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	107	DOMON.				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	L-ascorbic acid binding|dopamine beta-monooxygenase activity			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	GGACCGATGGGGACACTGCCT	0.617													5	23					0	0	1	0	0	A	136501814	G	A	136501814	2	1	83	1	0	0	0	0	0	0	0	1	4250	1219	43	3		3	DBH	9	136501814	Silent	SNP	G	TCGA-DU-7007-01A-11D-2024-08	41020508	136501814	4711617	21	3586											
RPP30	10556	broad.mit.edu	37	chr10	92631801	92631801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgacctgaaggctctgcgcGgacttgtggagacagccgct	7	8	14	12	3	1	3	0	2	1	1	1	5	1	4	2	3	2	2	2	3	1	1			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr10:92631801G>A	uc001khd.2	+	0	328	c.58G>A	c.(58-60)Gga>Aga	p.G20R	RPP30_uc010qnj.2_Missense_Mutation_p.G20R|RPP30_uc009xtx.3_Missense_Mutation_p.G20R	NM_001104546	NP_001098016	P78346	RPP30_HUMAN	Homo sapiens ribonuclease P/MRP 30kDa subunit (RPP30), transcript variant 1, mRNA.	20					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	p.G20R(2)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						GGCTCTGCGCGGACTTGTGGA	0.637													66	91					0	0	1	0	0	A	92631801	G	A	92631801	3	1	83	1	0	0	0	0	1	0	0	0	13612	1117	39	2	60	2	RPP30	10	92631801	Missense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08		92631801	42902946	22	3587											
ATG2A	23130	broad.mit.edu	37	chr11	64677554	64677554	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtacggtggccaggcgCagtagggcggccagccggtc	6	4	19	12	4	0	0	0	0	0	0	1	0	0	0	3	7	2	4	3	7	2	2			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr11:64677554C>A	uc001obx.3	-	12	1936	c.1821G>T	c.(1819-1821)ctG>ctT	p.L607L		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	607							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TGGCCAGGCGCAGTAGGGCGG	0.721													3	20					0.115264	0.115264	1	1	0	A	64677554	C	A	64677554	2	1	83	1	0	0	0	0	0	0	0	1	1093	697	25	5		5	ATG2A	11	64677554	Silent	SNP	C	TCGA-DU-7007-01A-11D-2024-08		64677554	70328962	23	3588											
UBTFL1	642623	broad.mit.edu	37	chr11	89819517	89819517	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggaactgaccaaaatcCtgtcaaagaaatacagggaa	18	5	9	9	0	1	2	1	1	0	1	2	4	2	4	3	2	2	0	3	2	7	1			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr11:89819517C>G	uc010rub.2	+	0	400	c.400C>G	c.(400-402)Ctg>Gtg	p.L134V		NM_001143975	NP_001137447	P0CB47	UBFL1_HUMAN	Homo sapiens upstream binding transcription factor, RNA polymerase I-like 1 (UBTFL1), mRNA.	134					multicellular organismal development	cytoplasm|nucleus	DNA binding										GACCAAAATCCTGTCAAAGAA	0.443													7	15					0	0	1	0	0	G	89819517	C	G	89819517	3	3	83	1	0	0	0	0	1	0	0	0	16907	680	24	5	402	5	UBTFL1	11	89819517	Missense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08	25141963	89819517	45186999	24	3589											
SPA17	53340	broad.mit.edu	37	chr11	124564278	124564278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttccggggacacatagccaGagaggaggcaaagaaaatga	16	4	13	8	1	0	3	0	1	0	2	1	6	1	5	2	4	1	1	2	4	4	2			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr11:124564278G>A	uc001qap.3	+	4	528	c.392G>A	c.(391-393)aGa>aAa	p.R131K		NM_017425	NP_059121	Q15506	SP17_HUMAN	Homo sapiens sperm autoantigenic protein 17 (SPA17), mRNA.	131	IQ.				binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		CACATAGCCAGAGAGGAGGCA	0.408													15	92					0	0	1	0	0	A	124564278	G	A	124564278	3	1	83	1	0	0	0	0	1	0	0	0	14971	942	33	3	406	3	SPA17	11	124564278	Missense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08	34744761	124564278	10442238	25	3590											
M6PR	4074	broad.mit.edu	37	chr12	9094479	9094479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctggtcatcccccacacCacgatatgctgcaggcacat	10	7	8	16	1	1	0	1	0	0	0	2	1	2	0	3	2	3	4	3	2	1	1			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr12:9094479C>T	uc001qvf.3	-	6	1044	c.769G>A	c.(769-771)Ggt>Agt	p.G257S	M6PR_uc021quk.1_Missense_Mutation_p.G171S	NM_002355	NP_002346	P20645	MPRD_HUMAN	Homo sapiens mannose-6-phosphate receptor (cation dependent) (M6PR), transcript variant 1, mRNA.	257					endosome to lysosome transport|receptor-mediated endocytosis	cell surface|endosome|integral to plasma membrane|lysosomal membrane	mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity	p.R256C(1)		cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)		TCCCCCACACCACGATATGCT	0.468													53	404					0	0	1	0	0	T	9094479	C	T	9094479	3	4	83	1	0	0	0	0	1	0	0	0	9140	594	21	3	68	3	M6PR	12	9094479	Missense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08		9094479	124757416	26	3591											
PRB3	5544	broad.mit.edu	37	chr12	11420518	11420518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtccttctggctttcccGgacgaggtgggggaccttgg	3	11	17	10	2	1	0	0	0	1	0	3	3	3	2	3	7	0	1	3	7	0	3			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr12:11420518G>A	uc001qzs.3	-	2	703	c.665C>T	c.(664-666)cCg>cTg	p.P222L	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	222	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding	p.R221S(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGGCTTTCCCGGACGAGGTGG	0.617													84	852					0	0	1	0	0	A	11420518	G	A	11420518	3	1	83	1	0	0	0	0	1	0	0	0	12444	1116	39	2	272	2	PRB3	12	11420518	Missense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08	2326039	11420518	122431377	27	3592			1	5		2	2	64	G		9.97148e-05
PRB3	5544	broad.mit.edu	37	chr12	11420581	11420581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtccttctggctttcccGgacgaggtgggggaccttgg	3	11	17	10	2	1	0	0	0	1	0	3	3	3	2	3	7	0	1	3	7	0	3	rs71057716		TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr12:11420581G>A	uc001qzs.3	-	2	640	c.602C>T	c.(601-603)cCg>cTg	p.P201L	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	201	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).			extracellular region	Gram-negative bacterial cell surface binding	p.R200C(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGGCTTTCCCGGACGAGGTGG	0.632													99	1916					0	0	1	0	0	A	11420581	G	A	11420581	3	1	83	1	0	0	0	0	1	0	0	0	12444	1116	39	2	335	2	PRB3	12	11420581	Missense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08	63	11420581	122431314	28	3593			1	5		2	2	64	G		9.97148e-05
GPRC5D	55507	broad.mit.edu	37	chr12	13102595	13102595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaccagagcaatgcagaCgaccgggtcgtcccactggg	9	5	15	12	3	0	3	0	1	0	2	2	4	1	3	3	3	2	2	3	3	1	0			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr12:13102595C>T	uc010shp.2	-	0	724	c.724G>A	c.(724-726)Gtc>Atc	p.V242I		NM_018654	NP_061124	Q9NZD1	GPC5D_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member D (GPRC5D), mRNA.	242						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GCAATGCAGACGACCGGGTCG	0.567													15	74					0	0	1	0	0	T	13102595	C	T	13102595	3	4	83	1	0	0	0	0	1	0	0	0	6727	536	19	1	323	1	GPRC5D	12	13102595	Missense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08	1682014	13102595	120749300	29	3594											
METAP2	10988	broad.mit.edu	37	chr12	95868076	95868078	+	In_Frame_Del	DEL	AAG	AAG	-																															cagccaagaaaaaaagacgaAagaagaagaagagcaaaggg																										TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr12:95868076_95868078delAAG	uc001tec.3	+	0	255_257	c.121_123delAAG	c.(121-123)aagdel	p.K44del	METAP2_uc010suv.2_In_Frame_Del_p.K44del|METAP2_uc001tef.3_In_Frame_Del_p.K44del|METAP2_uc001tee.3_Non-coding_Transcript	NM_006838	NP_006829	P50579	AMPM2_HUMAN	Homo sapiens methionyl aminopeptidase 2 (METAP2), mRNA.	44	Arg/Lys-rich (basic).				N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	AAAAAGACGAAAGAAGAAGAAGA	0.557													11	45	---	---	---	---						-	95868078	AAG	-	95868076	7	5	83	1	0	1	0	1	0	0	0	0	9487	15	1	0	123	0	METAP2	12	95868076	In_Frame_Del	DEL	AAG	TCGA-DU-7007-01A-11D-2024-08	82765481	95868076	37983819	30	3595											
DNAH10	196385	broad.mit.edu	37	chr12	124332564	124332564	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaggaaccggcaaaacCgagaccaccaaggacctggc	14	1	11	15	2	0	1	0	0	0	1	0	4	0	3	6	4	3	2	6	4	4	0			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr12:124332564C>T	uc001uft.4	+	31	5542	c.5517C>T	c.(5515-5517)acC>acT	p.T1839T		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1839	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCGGCAAAACCGAGACCACCA	0.552													55	34					0	0	1	0	0	T	124332564	C	T	124332564	2	4	83	1	0	0	0	0	0	0	0	1	4598	639	23	2		2	DNAH10	12	124332564	Silent	SNP	C	TCGA-DU-7007-01A-11D-2024-08	28464488	124332564	9519331	31	3596											
COL4A2	1284	broad.mit.edu	37	chr13	111147702	111147702	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacaggttctgacatccaCggagacccaggcttcccagg	9	7	10	15	1	1	2	0	1	1	1	4	3	4	2	4	4	0	2	4	4	0	2			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr13:111147702C>T	uc001vqx.3	+	39	3937	c.3648C>T	c.(3646-3648)caC>caT	p.H1216H		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	1216	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CTGACATCCACGGAGACCCAG	0.557													11	96					0	0	1	0	0	T	111147702	C	T	111147702	2	4	83	1	0	0	0	0	0	0	0	1	3690	535	19	1		1	COL4A2	13	111147702	Silent	SNP	C	TCGA-DU-7007-01A-11D-2024-08		111147702	4022176	32	3597											
C15orf2	23742	broad.mit.edu	37	chr15	24921762	24921762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagccaggccggatgtgccCggcatcttggaaagcctgat	9	7	13	12	2	1	1	0	1	1	0	1	3	1	3	4	4	3	1	4	4	1	1			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr15:24921762C>T	uc001ywo.3	+	0	1222	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	250					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CGGATGTGCCCGGCATCTTGG	0.622													11	53					0	0	1	0	0	T	24921762	C	T	24921762	3	4	83	1	0	0	0	0	1	0	0	0	1784	643	23	2	750	2	C15orf2	15	24921762	Missense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08		24921762	77609630	33	3598											
FGF7	2252	broad.mit.edu	37	chr15	49776652	49776652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctgtaagaggaaaaaaaaCgaagaaagaacaaaaaacag	25	3	8	5	1	0	3	0	0	0	3	1	5	1	4	1	1	3	1	1	1	11	1			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr15:49776652C>T	uc001zxn.3	+	3	1065	c.536C>T	c.(535-537)aCg>aTg	p.T179M	C15orf33_uc001zxl.2_Intron|C15orf33_uc001zxm.3_Intron	NM_002009	NP_002000	P21781	FGF7_HUMAN	Homo sapiens fibroblast growth factor 7 (FGF7), mRNA.	179					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	p.T179M(2)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	GGAAAAAAAACGAAGAAAGAA	0.373													6	17					0	0	1	0	0	T	49776652	C	T	49776652	3	4	83	1	0	0	0	0	1	0	0	0	5857	536	19	1	546	1	FGF7	15	49776652	Missense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08	24854890	49776652	52754740	34	3599											
BNIP2	663	broad.mit.edu	37	chr15	59971949	59971949	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtttctttctcactttatttCcattaacttctagtgagcct	7	20	4	10	0	3	1	1	1	3	0	5	1	4	1	2	0	2	1	2	0	3	8			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr15:59971949C>T	uc010uhc.2	-	3	503	c.500G>A	c.(499-501)gGa>gAa	p.G167E	BNIP2_uc010uhb.2_Missense_Mutation_p.G108E	NM_004330	NP_004321	Q12982	BNIP2_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 2 (BNIP2), mRNA.	46	CRAL-TRIO.				anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation	nuclear envelope|perinuclear region of cytoplasm	GTPase activator activity|calcium ion binding|protein binding			NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						CACTTTATTTCCATTAACTTC	0.368													4	25					0	0	1	0	0	T	59971949	C	T	59971949	3	4	83	1	0	0	0	0	1	0	0	0	1477	855	30	3	835	3	BNIP2	15	59971949	Missense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08	10195297	59971949	42559443	35	3600											
CCDC33	80125	broad.mit.edu	37	chr15	74554908	74554908	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagctgaggatgcagggCaagaaggtaagcaggggctg	12	5	17	7	0	0	2	0	1	0	1	1	3	1	3	1	5	3	6	1	5	4	1			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr15:74554908C>T	uc002axo.3	+	2	707	c.313C>T	c.(313-315)Caa>Taa	p.Q105*		NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	308							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGATGCAGGGCAAGAAGGTAA	0.597													4	12					0	0	1	0	0	T	74554908	C	T	74554908	4	4	83	1	0	0	0	0	0	1	0	0	2806	711	25	3	323	3	CCDC33	15	74554908	Nonsense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08	14582959	74554908	27976484	36	3601											
GPR139	124274	broad.mit.edu	37	chr16	20043246	20043246	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcggctgccatggtgcggaaCcgcttgctgatgaagcagta	8	8	15	10	3	0	2	0	2	0	0	0	3	0	3	2	3	5	5	2	3	3	2			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr16:20043246C>G	uc002dgu.1	-	1	1035	c.873G>C	c.(871-873)cgG>cgC	p.R291R	GPR139_uc010vaw.1_Silent_p.R198R	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	291						integral to membrane|plasma membrane		p.R291W(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TGGTGCGGAACCGCTTGCTGA	0.502													21	120					0	0	1	0	0	G	20043246	C	G	20043246	2	3	83	1	0	0	0	0	0	0	0	1	6648	494	18	5		5	GPR139	16	20043246	Silent	SNP	C	TCGA-DU-7007-01A-11D-2024-08		20043246	70311507	37	3602											
ZNF629	23361	broad.mit.edu	37	chr16	30795077	30795077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctggtgctgcaccaggtgcGagctctgcgtgaagctcttg	5	10	15	11	2	2	1	0	1	2	0	2	2	2	1	1	2	6	5	1	2	1	1			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr16:30795077G>A	uc002dzs.1	-	2	780	c.572C>T	c.(571-573)tCg>tTg	p.S191L		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Homo sapiens zinc finger protein 629 (ZNF629), mRNA.	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CACCAGGTGCGAGCTCTGCGT	0.657													4	35					0	0	1	0	0	A	30795077	G	A	30795077	3	1	83	1	0	0	0	0	1	0	0	0	18050	1059	37	2	2041	2	ZNF629	16	30795077	Missense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08	10751831	30795077	59559676	38	3603											
AMFR	267	broad.mit.edu	37	chr16	56442018	56442018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctcatcggcgtggtgggcGagaaggaaagctgaaatgca	11	7	16	7	3	1	2	1	1	0	1	2	4	1	3	0	4	3	3	0	4	3	0	rs147760918		TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr16:56442018G>A	uc002eiy.3	-	3	729	c.524C>T	c.(523-525)tCg>tTg	p.S175L		NM_001144	NP_001135	Q9UKV5	AMFR2_HUMAN	Homo sapiens autocrine motility factor receptor (AMFR), mRNA.	175					ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						CGTGGTGGGCGAGAAGGAAAG	0.532													8	19					0	0	1	0	0	A	56442018	G	A	56442018	3	1	83	1	0	0	0	0	1	0	0	0	571	1059	37	2	1451	2	AMFR	16	56442018	Missense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08	25646941	56442018	33912735	39	3604											
TP53	7157	broad.mit.edu	37	chr17	7579311	7579311	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcccctcagggcaactgaCcgtgcaagtcacagacttgg	10	6	11	14	1	2	2	2	1	0	1	2	2	2	2	3	2	3	2	3	2	2	1	rs68140816		TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr17:7579311C>G	uc002gim.2	-	4	569	c.375_splice	c.e4+1	p.T125_splice	TP53_uc002gig.1_Splice_Site_p.T125_splice|TP53_uc002gih.3_Splice_Site_p.T125_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Splice_Site_p.T125_splice|TP53_uc010cnh.1_Splice_Site_p.T125_splice|TP53_uc002gij.2_Splice_Site_p.T125_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Splice_Site_p.T86_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		GGGCAACTGACCGTGCAAGTC	0.532		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)			49	14					0	0	1	0	0	G	7579311	C	G	7579311	5	3	83	1	0	0	0	0	0	0	1	0	16378	521	18	5	926	5	TP53	17	7579311	Splice_Site	SNP	C	TCGA-DU-7007-01A-11D-2024-08		7579311	73615899	40	3605											
HELZ	9931	broad.mit.edu	37	chr17	65105453	65105453	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattgttgggtcccgcctgaTatgcaggagaaagctgagga	10	9	14	8	1	0	3	0	2	0	1	1	5	1	4	2	3	2	3	2	3	2	3			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr17:65105453T>C	uc010wqk.2	-	28	4458	c.4271A>G	c.(4270-4272)tAt>tGt	p.Y1424C	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.Y1423C|HELZ_uc010der.3_5'UTR	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TCCCGCCTGATATGCAGGAGA	0.527													29	46					0	0	1	0	0	C	65105453	T	C	65105453	3	2	83	1	0	0	0	0	1	0	0	0	7049	1406	49	3	1580	3	HELZ	17	65105453	Missense_Mutation	SNP	T	TCGA-DU-7007-01A-11D-2024-08	57526142	65105453	16089757	41	3606											
SDK2	54549	broad.mit.edu	37	chr17	71375616	71375616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caacaaagacctcctgcgggGggctggagggcccctcaccc	8	4	13	16	1	1	1	1	0	0	1	2	2	2	2	5	5	2	1	5	5	2	0			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr17:71375616G>A	uc010dfm.3	-	34	4835	c.4835C>T	c.(4834-4836)cCc>cTc	p.P1612L	SDK2_uc002jjt.4_Missense_Mutation_p.P752L|SDK2_uc010dfn.2_Missense_Mutation_p.P1291L	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	1612	Fibronectin type-III 10.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CTCCTGCGGGGGGCTGGAGGG	0.657													3	40					0	0	1	0	0	A	71375616	G	A	71375616	3	1	83	1	0	0	0	0	1	0	0	0	13969	1232	43	3	1727	3	SDK2	17	71375616	Missense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08	6270163	71375616	9819594	42	3607											
TTYH2	94015	broad.mit.edu	37	chr17	72246149	72246149	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgctgcagtttgccgtgccCctcttctccactgcagaggt	4	12	10	15	1	2	1	0	0	2	1	3	1	2	1	4	1	5	4	4	1	0	2			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr17:72246149C>T	uc002jkc.3	+	8	1036	c.1005C>T	c.(1003-1005)ccC>ccT	p.P335P	TTYH2_uc010wqw.2_Silent_p.P314P|TTYH2_uc002jkd.3_Silent_p.P14P	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	Homo sapiens tweety homolog 2 (Drosophila) (TTYH2), transcript variant 1, mRNA.	335						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TTGCCGTGCCCCTCTTCTCCA	0.652													35	53					0	0	1	0	0	T	72246149	C	T	72246149	2	4	83	1	0	0	0	0	0	0	0	1	16737	610	22	3		3	TTYH2	17	72246149	Silent	SNP	C	TCGA-DU-7007-01A-11D-2024-08	870533	72246149	8949061	43	3608											
ACER1	125981	broad.mit.edu	37	chr19	6307219	6307219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagaagctgcaaagcagacGgtcactgatccagctggtca	12	6	11	12	1	2	3	2	1	0	2	3	3	3	3	2	2	4	4	2	2	2	0			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr19:6307219G>A	uc002mel.2	-	4	649	c.571C>T	c.(571-573)Cgt>Tgt	p.R191C		NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN	Homo sapiens alkaline ceramidase 1 (ACER1), mRNA.	191						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						CAAAGCAGACGGTCACTGATC	0.542													11	47					0	0	1	0	0	A	6307219	G	A	6307219	3	1	83	1	0	0	0	0	1	0	0	0	138	1116	39	2	231	2	ACER1	19	6307219	Missense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08		6307219	52821764	44	3609											
GPR32	2854	broad.mit.edu	37	chr19	51273893	51273893	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggggaccagaggctgcagTgacaggcaacctggggtcct	9	5	17	10	0	0	2	0	1	0	1	1	4	1	3	3	6	2	3	3	6	1	0			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr19:51273893T>A	uc010ycf.2	+	0	36	c.36T>A	c.(34-36)agT>agA	p.S12R		NM_001506	NP_001497	O75388	GPR32_HUMAN	Homo sapiens G protein-coupled receptor 32 (GPR32), mRNA.	12						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GAGGCTGCAGTGACAGGCAAC	0.498													7	15					0	0	1	0	0	A	51273893	T	A	51273893	3	1	83	1	0	0	0	0	1	0	0	0	6688	1693	59	5	38	5	GPR32	19	51273893	Missense_Mutation	SNP	T	TCGA-DU-7007-01A-11D-2024-08	44966674	51273893	7855090	45	3610											
PCIF1	63935	broad.mit.edu	37	chr20	44567656	44567656	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatggccaatgagaatcaCggcagcccccgggaggaagc	12	3	15	11	2	1	2	1	1	0	2	1	6	1	4	3	4	2	1	3	4	3	0			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr20:44567656C>T	uc002xqs.3	+	2	332	c.18C>T	c.(16-18)caC>caT	p.H6H		NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	Homo sapiens PDX1 C-terminal inhibiting factor 1 (PCIF1), mRNA.	6						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						ATGAGAATCACGGCAGCCCCC	0.602													12	86					0	0	1	0	0	T	44567656	C	T	44567656	2	4	83	1	0	0	0	0	0	0	0	1	11580	535	19	1		1	PCIF1	20	44567656	Silent	SNP	C	TCGA-DU-7007-01A-11D-2024-08		44567656	18457864	46	3611											
APOBEC3H	164668	broad.mit.edu	37	chr22	39497965	39497965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtggaccacgagaaacCgctttccttcaacccctata	10	11	6	14	2	1	1	1	0	0	1	2	3	2	2	5	1	2	1	5	1	4	5			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr22:39497965C>T	uc021wpt.1	+	3	588	c.461C>T	c.(460-462)cCg>cTg	p.P154L	APOBEC3H_uc021wps.1_Intron|APOBEC3H_uc021wpu.1_Missense_Mutation_p.P154L|APOBEC3H_uc021wpv.1_Missense_Mutation_p.P154L	NM_001166003	NP_001159475	Q6NTF7	ABC3H_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H (APOBEC3H), transcript variant 1, mRNA.	154					DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					CACGAGAAACCGCTTTCCTTC	0.537													26	9					0	0	1	0	0	T	39497965	C	T	39497965	3	4	83	1	0	0	0	0	1	0	0	0	795	652	23	2	471	2	APOBEC3H	22	39497965	Missense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08		39497965	11806601	47	3612											
ATRX	546	broad.mit.edu	37	chrX	76814313	76814313	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagaaatgataaataatcGtcctctgaaaatgaaaatat	20	11	6	4	1	1	4	0	3	1	1	3	4	2	4	1	0	0	1	1	0	10	4			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chrX:76814313G>A	uc004ecp.4	-	28	6563	c.6331C>T	c.(6331-6333)Cga>Tga	p.R2111*	ATRX_uc004ecq.4_Nonsense_Mutation_p.R2073*|ATRX_uc004eco.4_Nonsense_Mutation_p.R1896*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2111	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.R2111*(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATAAATAATCGTCCTCTGAAA	0.274			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						15	6					0	0	1	0	0	A	76814313	G	A	76814313	4	1	83	1	0	0	0	0	0	1	0	0	1208	1153	40	1	1175	1	ATRX	23	76814313	Nonsense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08		76814313	78456247	48	3613											
COL4A5	1287	broad.mit.edu	37	chrX	107938508	107938508	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttatagcatacaagtgcAggggcagaaggctcaggtca	12	9	12	8	0	2	1	2	0	0	1	2	1	2	1	0	4	3	4	0	4	5	4			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chrX:107938508A>T	uc022ccg.1	+	51	5035	c.4833A>T	c.(4831-4833)gcA>gcT	p.A1611A	COL4A5_uc004enz.1_Silent_p.A1605A	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1605	Collagen IV NC1.		Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ATACAAGTGCAGGGGCAGAAG	0.488									Alport syndrome with Diffuse Leiomyomatosis				19	50					0	0	1	0	0	T	107938508	A	T	107938508	2	4	83	1	0	0	0	0	0	0	0	1	3694	175	7	5		5	COL4A5	23	107938508	Silent	SNP	A	TCGA-DU-7007-01A-11D-2024-08	31124195	107938508	47332052	49	3614											
PRAMEF11	440560	broad.mit.edu	37	chr1	12884887	12884887	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacagaacaagatcctcttGgggtgccttaagtgcctcac	10	10	10	11	0	2	2	1	0	1	2	3	2	3	2	3	2	4	1	3	2	4	3			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr1:12884887G>T	uc001auk.2	-	3	1420	c.1224C>A	c.(1222-1224)ccC>ccA	p.P408P		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	408								p.P408P(2)|p.P408T(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						AGATCCTCTTGGGGTGCCTTA	0.493													14	296					6.31663e-08	6.74731e-08	0.132662	1	0	T	12884887	G	T	12884887	2	4	84	1	0	0	0	0	0	0	0	1	12427	1335	47	5		5	PRAMEF11	1	12884887	Silent	SNP	G	TCGA-DU-7008-01A-11D-2024-08		12884887	236365734	1	3615											
TMEM82	388595	broad.mit.edu	37	chr1	16074101	16074101	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccctgccctcggcacccCagtcccagagttcggccccc	5	5	9	22	2	0	1	0	0	0	1	3	1	1	1	8	2	2	2	8	2	0	1			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr1:16074101C>A	uc001axc.3	+	5	1144	c.1006C>A	c.(1006-1008)Cag>Aag	p.Q336K		NM_001013641	NP_001013663	A0PJX8	TMM82_HUMAN	Homo sapiens transmembrane protein 82 (TMEM82), mRNA.	336						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCGGCACCCCAGTCCCAGAG	0.602													22	59					3.08376e-08	3.37062e-08	0.083992	1	0	A	16074101	C	A	16074101	3	1	84	1	0	0	0	0	1	0	0	0	16203	595	21	5	1028	5	TMEM82	1	16074101	Missense_Mutation	SNP	C	TCGA-DU-7008-01A-11D-2024-08	3189214	16074101	233176520	2	3616											
OR2T11	127077	broad.mit.edu	37	chr1	248789593	248789593	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagaggattaagcatgggCgtgacaatggtatagaaggc	14	8	15	4	1	0	3	0	2	0	2	0	5	0	4	0	4	1	2	0	4	5	3			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr1:248789593C>T	uc001ier.1	-	0	837	c.837G>A	c.(835-837)acG>acA	p.T279T		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA.	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAAGCATGGGCGTGACAATGG	0.488													11	105					0	0	0.069234	0	0	T	248789593	C	T	248789593	2	4	84	1	0	0	0	0	0	0	0	1	11018	755	27	1		1	OR2T11	1	248789593	Silent	SNP	C	TCGA-DU-7008-01A-11D-2024-08	232715492	248789593	461028	3	3617											
SF3B1	23451	broad.mit.edu	37	chr2	198268407	198268407	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatcctcaagtgtaggagAcatcagcagaggaagaatct	14	9	11	7	0	3	4	2	1	1	3	4	6	4	5	1	2	1	2	1	2	4	2			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr2:198268407A>G	uc002uue.3	-	11	1669	c.1621T>C	c.(1621-1623)Tct>Cct	p.S541P		NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	541	Interaction with SF3B14.				nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGTGTAGGAGACATCAGCAGA	0.408			Mis		myelodysplastic syndrome								27	22					0	0	0.099896	0	0	G	198268407	A	G	198268407	3	3	84	1	0	0	0	0	1	0	0	0	14149	275	10	3	2349	3	SF3B1	2	198268407	Missense_Mutation	SNP	A	TCGA-DU-7008-01A-11D-2024-08		198268407	44930966	4	3618											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								23	47					0	0	0.0918	0	0	T	209113112	C	T	209113112	3	4	84	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7008-01A-11D-2024-08	10844705	209113112	34086261	5	3619											
HTR2B	3357	broad.mit.edu	37	chr2	231973908	231973908	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcaaccatgttaggcgttGaggtggcttgtttttgacta	8	15	12	6	1	1	2	1	2	0	0	1	2	1	2	1	3	1	4	1	3	3	6			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr2:231973908G>A	uc002vro.3	-	3	1274	c.769C>T	c.(769-771)Caa>Taa	p.Q257*	PSMD1_uc002vrn.2_Intron|PSMD1_uc002vrm.2_Intron|PSMD1_uc010fxu.2_Intron|HTR2B_uc010fxv.3_Nonsense_Mutation_p.Q190*	NM_000867	NP_000858	P41595	5HT2B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2B (HTR2B), mRNA.	257					ERK1 and ERK2 cascade|G-protein coupled receptor internalization|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cGMP biosynthetic process|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|embryonic morphogenesis|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	G-protein alpha-subunit binding|Ras GTPase activator activity|calcium channel activity|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	GTTAGGCGTTGAGGTGGCTTG	0.453													40	61					0	0	0.09836	0	0	A	231973908	G	A	231973908	4	1	84	1	0	0	0	0	0	1	0	0	7442	1299	45	3	680	3	HTR2B	2	231973908	Nonsense_Mutation	SNP	G	TCGA-DU-7008-01A-11D-2024-08	22860796	231973908	11225465	6	3620											
MAP3K13	9175	broad.mit.edu	37	chr3	185161416	185161416	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attattcatcgtgatctcaaAtcacctaagtgagttctggg	11	14	8	8	1	4	2	3	2	2	0	6	2	4	2	1	1	0	1	1	1	3	4			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr3:185161416A>G	uc010hyf.3	+	4	1134	c.843A>G	c.(841-843)aaA>aaG	p.K281K	MAP3K13_uc011brt.2_Silent_p.K74K|MAP3K13_uc003fph.4_Silent_p.K49K|MAP3K13_uc011bru.2_Silent_p.K137K|MAP3K13_uc003fpi.3_Silent_p.K281K|MAP3K13_uc010hyg.3_Intron	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.	281	Protein kinase.				JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GTGATCTCAAATCACCTAAGT	0.378													38	56					0	0	0.09836	0	0	G	185161416	A	G	185161416	2	3	84	1	0	0	0	0	0	0	0	1	9247	98	4	3		3	MAP3K13	3	185161416	Silent	SNP	A	TCGA-DU-7008-01A-11D-2024-08		185161416	12861014	7	3621											
FAT1	2195	broad.mit.edu	37	chr4	187524637	187524637	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggttcagaggactgcaaactAacaatctgtatgtcgttcct	11	12	9	9	1	2	1	1	0	1	1	4	2	3	2	1	2	3	4	1	2	4	4			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr4:187524637A>G	uc003izf.3	-	18	11231	c.11043T>C	c.(11041-11043)gtT>gtC	p.V3681V		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	3681					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACTGCAAACTAACAATCTGTA	0.478										HNSCC(5;0.00058)			7	23					0	0	0.02938	0	0	G	187524637	A	G	187524637	2	3	84	1	0	0	0	0	0	0	0	1	5689	349	13	3		3	FAT1	4	187524637	Silent	SNP	A	TCGA-DU-7008-01A-11D-2024-08		187524637	3629639	8	3622											
HSD17B4	3295	broad.mit.edu	37	chr5	118867014	118867014	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaataggacgccgcctaaaGgatattgggcctgaggtggt	11	8	15	7	2	0	1	0	1	0	0	0	4	0	3	3	5	0	0	3	5	5	4			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr5:118867014G>A	uc003ksj.3	+	21	2041	c.1908G>A	c.(1906-1908)aaG>aaA	p.K636K	HSD17B4_uc011cwh.2_Silent_p.K618K|HSD17B4_uc011cwg.2_Silent_p.K612K|HSD17B4_uc011cwi.2_Silent_p.K661K|HSD17B4_uc003ksk.4_Silent_p.K489K|HSD17B4_uc011cwj.2_Silent_p.K489K|HSD17B4_uc010jcn.2_Silent_p.K374K	NM_000414	NP_000405	P51659	DHB4_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 4 (HSD17B4), transcript variant 2, mRNA.	636	SCP2.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	GCCGCCTAAAGGATATTGGGC	0.403													39	45					0	0	0.080422	0	0	A	118867014	G	A	118867014	2	1	84	1	0	0	0	0	0	0	0	1	7386	991	35	3		3	HSD17B4	5	118867014	Silent	SNP	G	TCGA-DU-7008-01A-11D-2024-08		118867014	62048246	9	3623											
GNPDA1	10007	broad.mit.edu	37	chr5	141381656	141381656	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctttctctttgatactgtAcaaggggtccaccaacttgt	8	16	7	10	0	2	1	0	1	2	0	4	1	3	1	2	2	3	1	2	2	4	6			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr5:141381656A>G	uc003lmf.4	-	5	1567	c.808T>C	c.(808-810)Tac>Cac	p.Y270H	GNPDA1_uc003lmg.4_Missense_Mutation_p.Y270H|GNPDA1_uc010jgh.3_Missense_Mutation_p.Y270H|GNPDA1_uc003lmh.4_Missense_Mutation_p.Y236H	NM_005471	NP_005462	P46926	GNPI1_HUMAN	Homo sapiens glucosamine-6-phosphate deaminase 1 (GNPDA1), mRNA.	270					N-acetylglucosamine metabolic process|generation of precursor metabolites and energy|glucosamine catabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGATACTGTACAAGGGGTCC	0.388													12	33					0	0	0.105934	0	0	G	141381656	A	G	141381656	3	3	84	1	0	0	0	0	1	0	0	0	6542	391	14	3	65	3	GNPDA1	5	141381656	Missense_Mutation	SNP	A	TCGA-DU-7008-01A-11D-2024-08	22514642	141381656	39533604	10	3624											
FAT2	2196	broad.mit.edu	37	chr5	150925553	150925553	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaatttcttctgggtggaaAtaaggccagaatatgagttc	12	12	10	7	0	2	2	0	1	2	1	3	3	2	3	2	3	0	1	2	3	5	5			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr5:150925553A>G	uc003lue.4	-	8	5148	c.5135T>C	c.(5134-5136)aTt>aCt	p.I1712T		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1712	Cadherin 15.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGGTGGAAATAAGGCCAGA	0.443													68	64					0	0	0.139131	0	0	G	150925553	A	G	150925553	3	3	84	1	0	0	0	0	1	0	0	0	5690	101	4	3	7974	3	FAT2	5	150925553	Missense_Mutation	SNP	A	TCGA-DU-7008-01A-11D-2024-08	9543897	150925553	29989707	11	3625											
TIMD4	91937	broad.mit.edu	37	chr5	156349194	156349194	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtagttgggagatgggcaTttcattcttcattgacatgg	9	14	12	6	0	3	2	2	1	1	1	3	3	3	2	0	3	0	3	0	3	1	6			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr5:156349194T>A	uc003lwh.2	-	6	985	c.928A>T	c.(928-930)Atg>Ttg	p.M310L	TIMD4_uc010jii.2_Missense_Mutation_p.M282L|TIMD4_uc003lwg.2_Missense_Mutation_p.M12L	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	310						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGATGGGCATTTCATTCTTC	0.517													5	64					0	0	0.02938	0	0	A	156349194	T	A	156349194	3	1	84	1	0	0	0	0	1	0	0	0	15900	1493	52	5	220	5	TIMD4	5	156349194	Missense_Mutation	SNP	T	TCGA-DU-7008-01A-11D-2024-08	5423641	156349194	24566066	12	3626											
KLHDC3	116138	broad.mit.edu	37	chr6	42986679	42986679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagtgctgctgtattgttgGtgacaagattgtcctctttg	6	16	11	8	0	1	2	0	1	1	1	2	2	2	2	2	1	2	4	2	1	2	5			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr6:42986679G>A	uc003otl.3	+	7	1204	c.899G>A	c.(898-900)gGt>gAt	p.G300D	RRP36_uc003otp.1_5'Flank|KLHDC3_uc003otn.3_Missense_Mutation_p.G184D|KLHDC3_uc003otm.3_Non-coding_Transcript|KLHDC3_uc021yzr.1_Missense_Mutation_p.G285D|KLHDC3_uc003oto.3_Missense_Mutation_p.G241D	NM_057161	NP_476502	Q9BQ90	KLDC3_HUMAN	Homo sapiens kelch domain containing 3 (KLHDC3), transcript variant 1, mRNA.	300					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGTATTGTTGGTGACAAGATT	0.512													7	117					0	0	0.047766	0	0	A	42986679	G	A	42986679	3	1	84	1	0	0	0	0	1	0	0	0	8357	1261	44	3	925	3	KLHDC3	6	42986679	Missense_Mutation	SNP	G	TCGA-DU-7008-01A-11D-2024-08		42986679	128128388	13	3627											
OR9A2	135924	broad.mit.edu	37	chr7	142723665	142723665	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgagaagagtgttatcGcaggacagtttgagcaattg	11	12	13	5	1	1	3	0	2	1	2	2	5	1	4	0	1	1	4	0	1	3	3			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr7:142723665G>A	uc003wcc.1	-	0	555	c.555C>T	c.(553-555)tgC>tgT	p.C185C		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA.	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					GAGTGTTATCGCAGGACAGTT	0.393													48	185					0	0	0.139131	0	0	A	142723665	G	A	142723665	2	1	84	1	0	0	0	0	0	0	0	1	11248	1079	38	1		1	OR9A2	7	142723665	Silent	SNP	G	TCGA-DU-7008-01A-11D-2024-08		142723665	16414998	14	3628											
FGD3	89846	broad.mit.edu	37	chr9	95795123	95795123	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctgcagagattgtttcCtgacacagccagtggcccct	7	11	11	12	0	1	2	0	1	1	1	2	3	2	2	4	1	2	2	4	1	0	2			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr9:95795123C>T	uc004asz.2	+	15	2281	c.1753C>T	c.(1753-1755)Ctg>Ttg	p.L585L	FGD3_uc004asw.2_Silent_p.L585L|FGD3_uc004asx.2_Silent_p.L585L|FGD3_uc011luc.1_Silent_p.L188L	NM_033086	NP_149077	Q5JSP0	FGD3_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 2, mRNA.	585					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						AGATTGTTTCCTGACACAGCC	0.637													6	119					0	0	0.02938	0	0	T	95795123	C	T	95795123	2	4	84	1	0	0	0	0	0	0	0	1	5834	680	24	3		3	FGD3	9	95795123	Silent	SNP	C	TCGA-DU-7008-01A-11D-2024-08		95795123	45418308	15	3629											
GTPBP4	23560	broad.mit.edu	37	chr10	1061799	1061799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggagtgggagttgctctcGaactccacgtgacgtttctg	6	11	13	11	4	2	1	0	1	2	0	4	4	3	3	2	2	2	3	2	2	1	2			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr10:1061799G>A	uc001ift.3	+	15	1786	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q	GTPBP4_uc010qad.2_Missense_Mutation_p.R456Q|GTPBP4_uc010qae.2_Missense_Mutation_p.R525Q	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	Homo sapiens GTP binding protein 4 (GTPBP4), mRNA.	572					negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		AGTTGCTCTCGAACTCCACGT	0.507													10	191					0	0	0.058154	0	0	A	1061799	G	A	1061799	3	1	84	1	0	0	0	0	1	0	0	0	6882	1058	37	2	1777	2	GTPBP4	10	1061799	Missense_Mutation	SNP	G	TCGA-DU-7008-01A-11D-2024-08		1061799	134472948	16	3630											
CPEB3	22849	broad.mit.edu	37	chr10	93999920	93999920	+	Frame_Shift_Del	DEL	G	G	-																															tgtccgggccgttgggggccGggggggcagcggctgggctg																										TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr10:93999920delG	uc001khw.2	-	1	392	c.188delC	c.(187-189)ccgfs	p.P63fs	CPEB3_uc001khu.2_Frame_Shift_Del_p.P63fs|CPEB3_uc001khv.2_Frame_Shift_Del_p.P63fs|CPEB3_uc010qnn.2_Frame_Shift_Del_p.P63fs	NM_014912	NP_055727	Q8NE35	CPEB3_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 3 (CPEB3), transcript variant 1, mRNA.	63	Pro-rich.						RNA binding|nucleotide binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				GTTGGGGGCCGGGGGGGCAGC	0.692													2	4	---	---	---	---						-	93999920	G	-	93999920	7	5	84	1	0	1	0	1	0	0	0	0	3802	1116	39	0	1971	0	CPEB3	10	93999920	Frame_Shift_Del	DEL	G	TCGA-DU-7008-01A-11D-2024-08	92938121	93999920	41534827	17	3631											
PC	5091	broad.mit.edu	37	chr11	66636386	66636386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctcgatgaagtagtgcttgCcgtgcctgtccaccaggaac	8	9	11	13	2	0	1	0	1	0	0	2	3	1	2	5	1	4	2	5	1	3	2			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr11:66636386C>T	uc001ojn.1	-	7	1002	c.953G>A	c.(952-954)gGc>gAc	p.G318D	PC_uc001ojo.1_Missense_Mutation_p.G318D|PC_uc001ojp.1_Missense_Mutation_p.G318D	NM_022172	NP_071504	P11498	PYC_HUMAN	Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	318	ATP-grasp.|Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GTAGTGCTTGCCGTGCCTGTC	0.677													32	40					0	0	0.050027	0	0	T	66636386	C	T	66636386	3	4	84	1	0	0	0	0	1	0	0	0	11497	739	26	3	2639	3	PC	11	66636386	Missense_Mutation	SNP	C	TCGA-DU-7008-01A-11D-2024-08		66636386	68370130	18	3632											
NUMA1	4926	broad.mit.edu	37	chr11	71718269	71718269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttgatgatctgcgtggtgCgccgacgagcggagcgggtc	5	9	18	9	6	1	2	0	2	1	0	2	5	1	3	1	3	4	1	1	3	0	1			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr11:71718269C>T	uc001orl.1	-	20	5601	c.5429G>A	c.(5428-5430)cGc>cAc	p.R1810H	NUMA1_uc001orj.2_5'UTR|NUMA1_uc009ysw.1_Missense_Mutation_p.R1377H|NUMA1_uc001ork.1_Missense_Mutation_p.R674H|NUMA1_uc001orm.1_Missense_Mutation_p.R1796H|NUMA1_uc001orn.2_3'UTR	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	1810					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTGCGTGGTGCGCCGACGAGC	0.632			T	RARA	APL								3	22					0	0	0.014758	0	0	T	71718269	C	T	71718269	3	4	84	1	0	0	0	0	1	0	0	0	10750	768	27	1	946	1	NUMA1	11	71718269	Missense_Mutation	SNP	C	TCGA-DU-7008-01A-11D-2024-08	5081883	71718269	63288247	19	3633											
DLG2	1740	broad.mit.edu	37	chr11	83676479	83676479	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatattgctactgcctcttcGtgtgttacttcttctaaact	8	18	5	10	1	3	0	0	0	3	0	4	0	3	0	1	0	5	2	1	0	6	8			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr11:83676479G>A	uc001paj.2	-	7	1077	c.774C>T	c.(772-774)caC>caT	p.H258H	DLG2_uc001pai.2_Silent_p.H207H|DLG2_uc010rsy.1_Silent_p.H225H|DLG2_uc021qof.1_Silent_p.H297H|DLG2_uc010rsz.1_Silent_p.H258H|DLG2_uc010rta.1_Silent_p.H258H|DLG2_uc001pak.2_Silent_p.H363H|DLG2_uc010rtb.1_Silent_p.H225H|DLG2_uc001pal.1_Silent_p.H258H|DLG2_uc001pam.2_Silent_p.H297H	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	258	PDZ 2.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	p.T257T(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CTGCCTCTTCGTGTGTTACTT	0.353													20	147					0	0	0.062417	0	0	A	83676479	G	A	83676479	2	1	84	1	0	0	0	0	0	0	0	1	4555	1136	40	1		1	DLG2	11	83676479	Silent	SNP	G	TCGA-DU-7008-01A-11D-2024-08	11958210	83676479	51330037	20	3634											
NFRKB	4798	broad.mit.edu	37	chr11	129739825	129739825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacctgttggagtggatgaaGgggcactggctgaactggcc	8	9	16	8	0	0	2	0	2	0	0	0	4	0	4	2	6	2	3	2	6	3	2			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr11:129739825G>A	uc001qfg.3	-	21	3291	c.3170C>T	c.(3169-3171)cCt>cTt	p.P1057L	NFRKB_uc001qfi.3_Missense_Mutation_p.P1032L|NFRKB_uc001qfh.3_Missense_Mutation_p.P1055L|NFRKB_uc010sbw.1_Missense_Mutation_p.P1042L|NFRKB_uc009zcr.3_Missense_Mutation_p.P318L	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.	1032					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	p.A1056A(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		AGTGGATGAAGGGGCACTGGC	0.542													6	69					0	0	0.021553	0	0	A	129739825	G	A	129739825	3	1	84	1	0	0	0	0	1	0	0	0	10384	1000	35	3	820	3	NFRKB	11	129739825	Missense_Mutation	SNP	G	TCGA-DU-7008-01A-11D-2024-08	46063346	129739825	5266691	21	3635											
PPHLN1	51535	broad.mit.edu	37	chr12	42835164	42835164	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggatggtggtgaaaatgctGattgaaaaagatccttcatt	13	12	12	4	0	1	4	1	3	0	1	2	5	2	5	1	3	1	1	1	3	4	3			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr12:42835164G>A	uc001rng.1	+	9	1062	c.957G>A	c.(955-957)ctG>ctA	p.L319L	PPHLN1_uc001rnb.3_Silent_p.L326L|PPHLN1_uc001rnc.3_Silent_p.L319L|PPHLN1_uc001rnd.3_Silent_p.L271L|PPHLN1_uc001rnf.3_Silent_p.L300L|PPHLN1_uc010skq.2_Silent_p.L245L|PPHLN1_uc010skr.1_Silent_p.L264L|PPHLN1_uc010sks.1_Silent_p.L245L|PPHLN1_uc010skt.1_Silent_p.L199L|PPHLN1_uc001rni.1_Silent_p.L264L|PPHLN1_uc001rnh.1_Non-coding_Transcript|PPHLN1_uc010sku.1_Silent_p.L252L	NM_016488	NP_057572	Q8NEY8	PPHLN_HUMAN	Homo sapiens periphilin 1 (PPHLN1), transcript variant 1, mRNA.	319					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		TGAAAATGCTGATTGAAAAAG	0.368													7	107					0	0	0.047766	0	0	A	42835164	G	A	42835164	2	1	84	1	0	0	0	0	0	0	0	1	12315	1277	45	3		3	PPHLN1	12	42835164	Silent	SNP	G	TCGA-DU-7008-01A-11D-2024-08		42835164	91016731	22	3636											
TP53	7157	broad.mit.edu	37	chr17	7577129	7577129	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcacaaacacgcacctcaAagctgttccgtcccagtaga	13	6	8	14	2	1	1	1	0	0	1	3	1	3	1	3	1	2	5	3	1	3	2			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr17:7577129A>G	uc002gim.2	-	7	1003	c.809T>C	c.(808-810)tTt>tCt	p.F270S	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.F270S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.F138S|TP53_uc010cnf.1_Missense_Mutation_p.F138S|TP53_uc002gii.1_Missense_Mutation_p.F138S|TP53_uc010cni.1_Missense_Mutation_p.F270S|TP53_uc010cnh.1_Missense_Mutation_p.F270S|TP53_uc002gij.2_Missense_Mutation_p.F270S|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.	270	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.F270C(31)|p.F270L(23)|p.F270S(16)|p.F270Y(10)|p.0?(8)|p.F270V(7)|p.G262_F270delGNLLGRNSF(4)|p.F270I(4)|p.G266_E271delGRNSFE(4)|p.S269N(4)|p.S269C(4)|p.S269S(3)|p.S269G(3)|p.F270fs*72(2)|p.S269fs*21(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.G262_S269delGNLLGRNS(2)|p.S269_F270>I(2)|p.S269T(2)|p.S269fs*34(2)|p.S269fs*75(1)|p.S269fs*76(1)|p.E258fs*71(1)|p.S269>XXXXX(1)|p.S269_F270insX(1)|p.S269fs*3(1)|p.S269R(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)		ACGCACCTCAAAGCTGTTCCG	0.537		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)			8	11					0	0	0.038147	0	0	G	7577129	A	G	7577129	3	3	84	1	0	0	0	0	1	0	0	0	16378	14	1	3	477	3	TP53	17	7577129	Missense_Mutation	SNP	A	TCGA-DU-7008-01A-11D-2024-08		7577129	73618081	23	3637											
SMARCA4	6597	broad.mit.edu	37	chr19	11144096	11144098	+	In_Frame_Del	DEL	AGA	AGA	-																															gtacaagctcaacgtggaccAgaaggtgatccaggccggca																										TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr19:11144096_11144098delAGA	uc010dxp.3	+	26	4037_4039	c.3677_3679delAGA	c.(3676-3681)cagaag>cag	p.K1227del	SMARCA4_uc010dxo.3_In_Frame_Del_p.K1227del|SMARCA4_uc002mqf.4_In_Frame_Del_p.K1227del|SMARCA4_uc010dxq.3_In_Frame_Del_p.K1227del|SMARCA4_uc010dxr.3_In_Frame_Del_p.K1227del|SMARCA4_uc002mqj.4_In_Frame_Del_p.K1227del|SMARCA4_uc010dxs.3_In_Frame_Del_p.K1227del|SMARCA4_uc010dxt.1_In_Frame_Del_p.K447del|SMARCA4_uc002mqh.4_In_Frame_Del_p.K350del|SMARCA4_uc002mqi.1_In_Frame_Del_p.K430del	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	1227	Helicase C-terminal.				chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AACGTGGACCAGAAGGTGATCCA	0.616			"F, N, Mis"		NSCLC								48	104	---	---	---	---						-	11144098	AGA	-	11144096	7	5	84	1	0	1	0	1	0	0	0	0	14770	188	7	0	3775	0	SMARCA4	19	11144096	In_Frame_Del	DEL	AGA	TCGA-DU-7008-01A-11D-2024-08		11144096	47984887	24	3638											
ZNF791	163049	broad.mit.edu	37	chr19	12739849	12739849	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatgaatgtaaggaatgcggGaaggcctttatttatcccac	12	12	10	7	1	0	1	0	1	0	0	1	3	1	3	2	3	1	1	2	3	7	6			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr19:12739849G>T	uc002mua.2	+	3	1668	c.1506G>T	c.(1504-1506)ggG>ggT	p.G502G	ZNF791_uc010xml.1_Silent_p.G470G|ZNF791_uc010dyu.1_Silent_p.G393G|ZNF791_uc010xmm.1_Silent_p.G393G	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	Homo sapiens zinc finger protein 791 (ZNF791), mRNA.	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AGGAATGCGGGAAGGCCTTTA	0.388													41	58					1.49673e-21	1.75866e-21	0.086207	1	0	T	12739849	G	T	12739849	2	4	84	1	0	0	0	0	0	0	0	1	18160	1161	41	5		5	ZNF791	19	12739849	Silent	SNP	G	TCGA-DU-7008-01A-11D-2024-08	1595753	12739849	46389134	25	3639											
IL4I1	259307	broad.mit.edu	37	chr19	50394683	50394685	+	In_Frame_Del	DEL	CTT	CTT	-																															aagagcgtgtgcctttcaaaCttcttcatcgcctttctgca																										TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr19:50394683_50394685delCTT	uc002pqv.2	-	8	1469_1471	c.640_642delAAG	c.(640-642)aagdel	p.K214del	IL4I1_uc002pqt.1_In_Frame_Del_p.K205del|IL4I1_uc021uxy.1_In_Frame_Del_p.K227del|IL4I1_uc002pqu.2_In_Frame_Del_p.K227del|IL4I1_uc010eno.2_In_Frame_Del_p.K213del	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	Homo sapiens interleukin 4 induced 1 (IL4I1), transcript variant 1, mRNA.	205						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		GCCTTTCAAACTTCTTCATCGCC	0.571													22	105	---	---	---	---						-	50394685	CTT	-	50394683	7	5	84	1	0	1	0	1	0	0	0	0	7697	564	20	0	1100	0	IL4I1	19	50394683	In_Frame_Del	DEL	CTT	TCGA-DU-7008-01A-11D-2024-08	37654834	50394683	8734300	26	3640											
PPP1R16B	26051	broad.mit.edu	37	chr20	37536526	37536526	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtgatcatgaagtcacagCtgaggcacaagtcatccttg	12	10	10	9	0	3	3	3	3	0	0	4	3	4	3	1	1	1	2	1	1	2	1			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr20:37536526C>T	uc002xje.3	+	8	1165	c.976C>T	c.(976-978)Ctg>Ttg	p.L326L	PPP1R16B_uc010ggc.3_Silent_p.L284L	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	326					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GAAGTCACAGCTGAGGCACAA	0.592													17	41					0	0	0.038395	0	0	T	37536526	C	T	37536526	2	4	84	1	0	0	0	0	0	0	0	1	12366	796	28	3		3	PPP1R16B	20	37536526	Silent	SNP	C	TCGA-DU-7008-01A-11D-2024-08		37536526	25488994	27	3641											
LMF2	91289	broad.mit.edu	37	chr22	50944111	50944111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgacacgcacaggtggccGtcttcttgcggctgccgtgg	5	9	15	12	4	2	1	0	1	2	0	2	1	2	1	2	4	2	2	2	4	0	2	rs149785243		TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr22:50944111G>A	uc003blp.2	-	5	939	c.908C>T	c.(907-909)aCg>aTg	p.T303M	LMF2_uc003blo.2_Missense_Mutation_p.T278M|NCAPH2_uc003blq.4_5'Flank|NCAPH2_uc003blv.3_5'Flank|NCAPH2_uc003blx.4_5'Flank|NCAPH2_uc003blr.4_5'Flank	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN	Homo sapiens lipase maturation factor 2 (LMF2), mRNA.	303						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACAGGTGGCCGTCTTCTTGCG	0.642													16	26					0	0	0.038395	0	0	A	50944111	G	A	50944111	3	1	84	1	0	0	0	0	1	0	0	0	8846	1145	40	1	1251	1	LMF2	22	50944111	Missense_Mutation	SNP	G	TCGA-DU-7008-01A-11D-2024-08		50944111	360455	28	3642											
XK	7504	broad.mit.edu	37	chrX	37587096	37587096	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgaagacctgggtggtggTtataatactcatcaacttct	10	13	9	9	0	3	2	2	1	1	1	3	2	3	2	2	3	2	1	2	3	5	4			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chrX:37587096T>A	uc004ddq.3	+	2	798	c.716T>A	c.(715-717)gTt>gAt	p.V239D		NM_021083	NP_066569	P51811	XK_HUMAN	Homo sapiens X-linked Kx blood group (McLeod syndrome) (XK), mRNA.	239					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				TGGGTGGTGGTTATAATACTC	0.498													13	27					0	0	0.09319	0	0	A	37587096	T	A	37587096	3	1	84	1	0	0	0	0	1	0	0	0	17428	1725	60	5	726	5	XK	23	37587096	Missense_Mutation	SNP	T	TCGA-DU-7008-01A-11D-2024-08		37587096	117683464	29	3643											
USP11	8237	broad.mit.edu	37	chrX	47101045	47101045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcatgaggaccttaatcggGtgaagaagaaggagtatgtg	13	9	15	4	1	0	4	0	2	0	2	1	6	0	6	1	3	1	2	1	3	5	2			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chrX:47101045G>A	uc004dhp.3	+	8	1255	c.1255G>A	c.(1255-1257)Gtg>Atg	p.V419M	USP11_uc004dhq.3_Missense_Mutation_p.V146M	NM_004651	NP_004642	P51784	UBP11_HUMAN	Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.	419					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.V419V(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CCTTAATCGGGTGAAGAAGAA	0.557													36	25					0	0	0.054565	0	0	A	47101045	G	A	47101045	3	1	84	1	0	0	0	0	1	0	0	0	17039	1261	44	3	1289	3	USP11	23	47101045	Missense_Mutation	SNP	G	TCGA-DU-7008-01A-11D-2024-08	9513949	47101045	108169515	30	3644											
ATRX	546	broad.mit.edu	37	chrX	76940037	76940038	+	Frame_Shift_Ins	INS	-	-	T																															tgcatttcttgcagaaagcaINSttatggcaaaagtcacaaca																										TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chrX:76940037_76940038insT	uc004ecp.4	-	8	942_943	c.710_711insA	c.(709-711)aatfs	p.N237fs	ATRX_uc004ecq.4_Frame_Shift_Ins_p.N199fs|ATRX_uc004eco.4_Frame_Shift_Ins_p.N22fs|ATRX_uc004ecr.2_Frame_Shift_Ins_p.N198fs|ATRX_uc010nlx.1_Frame_Shift_Ins_p.N237fs|ATRX_uc010nly.1_Frame_Shift_Ins_p.N182fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	237	ADD.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TGCAGAAAGCATTATGGCAAAA	0.381			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						121	137	---	---	---	---						T	76940038	-	T	76940037	7	5	84	1	0	1	1	0	0	0	0	0	1208	214	8	0	6875	0	ATRX	23	76940037	Frame_Shift_Ins	INS	-	TCGA-DU-7008-01A-11D-2024-08	29838992	76940037	78330523	31	3645											
XKRX	402415	broad.mit.edu	37	chrX	100169558	100169558	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgacagtaattcagtaacacTttcactccaaagaacttaaa	17	11	4	9	0	2	2	2	1	0	1	3	2	3	2	1	0	2	2	1	0	6	5			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chrX:100169558T>A	uc004egn.2	-	2	1724	c.1119A>T	c.(1117-1119)aaA>aaT	p.K373N	XKRX_uc011mre.1_Missense_Mutation_p.K169N	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related, X-linked (XKRX), mRNA.	373						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						TCAGTAACACTTTCACTCCAA	0.423													97	117					0	0	0.139131	0	0	A	100169558	T	A	100169558	3	1	84	1	0	0	0	0	1	0	0	0	17436	1606	56	5	234	5	XKRX	23	100169558	Missense_Mutation	SNP	T	TCGA-DU-7008-01A-11D-2024-08	23229521	100169558	55101002	32	3646											
PDZD4	57595	broad.mit.edu	37	chrX	153069774	153069774	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggacagctcgtgcttcttGggctcgctggccgccaggtc	3	10	14	14	4	1	0	0	0	1	0	5	1	1	1	2	4	2	4	2	4	0	2			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chrX:153069774G>T	uc004fja.1	-	7	1612	c.1362C>A	c.(1360-1362)ccC>ccA	p.P454P	PDZD4_uc004fiy.1_Silent_p.P373P|PDZD4_uc004fiz.1_Silent_p.P448P|PDZD4_uc004fix.2_Silent_p.P352P|PDZD4_uc011mze.1_Silent_p.P339P|PDZD4_uc022chy.1_5'Flank	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	448						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTGCTTCTTGGGCTCGCTGG	0.652													8	41					9.16793e-09	1.02593e-08	0.0333	1	0	T	153069774	G	T	153069774	2	4	84	1	0	0	0	0	0	0	0	1	11703	1335	47	5		5	PDZD4	23	153069774	Silent	SNP	G	TCGA-DU-7008-01A-11D-2024-08	52900216	153069774	2200786	33	3647											
ARID1A	8289	broad.mit.edu	37	chr1	27106319	27106320	+	Frame_Shift_Del	DEL	TT	TT	-																															tctggactggcaggattctcTtgccaagcgctgcgtctgtg																										TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr1:27106319_27106320delTT	uc001bmv.1	+	19	6303_6304	c.5930_5931delTT	c.(5929-5931)cttfs	p.L1977fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.L1760fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.L823fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.L305fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.L219fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1977					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAGGATTCTCTTGCCAAGCGCT	0.545			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								30	30	---	---	---	---						-	27106320	TT	-	27106319	7	5	85	1	0	1	0	1	0	0	0	0	913	1609	56	0	6008	0	ARID1A	1	27106319	Frame_Shift_Del	DEL	TT	TCGA-DU-7009-01A-11D-2024-08		27106319	222144302	1	3648											
JAK1	3716	broad.mit.edu	37	chr1	65303662	65303662	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgacggtgtaatactccttAtcggtttcaattgctttggt	7	18	9	7	2	1	1	1	1	0	0	3	1	2	1	1	3	2	3	1	3	4	7	rs17392258		TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr1:65303662A>G	uc001dbu.1	-	21	3342	c.3093T>C	c.(3091-3093)gaT>gaC	p.D1031D	JAK1_uc009wam.1_Silent_p.D1031D|JAK1_uc009wal.1_Silent_p.D208D	NM_002227	NP_002218	P23458	JAK1_HUMAN	Homo sapiens Janus kinase 1 (JAK1), mRNA.	1031	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		AATACTCCTTATCGGTTTCAA	0.423			Mis		ALL								4	43					0	0	1	0	0	G	65303662	A	G	65303662	2	3	85	1	0	0	0	0	0	0	0	1	7937	446	16	3		3	JAK1	1	65303662	Silent	SNP	A	TCGA-DU-7009-01A-11D-2024-08	38197343	65303662	183946959	2	3649											
AHCTF1	25909	broad.mit.edu	37	chr1	247013166	247013167	+	Frame_Shift_Ins	INS	-	-	T																															ctttcagtcttttttgtaagINSttttttcttagagctcatca																										TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr1:247013166_247013167insT	uc001ibv.2	-	32	6265_6266	c.6168_6169insA	c.(6166-6171)aaacttfs	p.K2056fs	AHCTF1_uc009xgs.1_Frame_Shift_Ins_p.K908fs|AHCTF1_uc001ibw.1_Non-coding_Transcript	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	2047	Necessary for nuclear localization (By similarity).				cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTTTTTGTAAGTTTTTTCTTAG	0.366													14	98	---	---	---	---						T	247013167	-	T	247013166	7	5	85	1	0	1	1	0	0	0	0	0	408	1029	36	0	674	0	AHCTF1	1	247013166	Frame_Shift_Ins	INS	-	TCGA-DU-7009-01A-11D-2024-08	181709504	247013166	2237455	3	3650											
ATP6V1C2	245973	broad.mit.edu	37	chr2	10917798	10917798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgctaggtaaccctgataggCctgctgcggggcagaccgac	8	6	14	13	3	0	2	0	1	0	1	0	3	0	2	3	4	3	4	3	4	3	3			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr2:10917798C>T	uc002ras.3	+	10	1022	c.913C>T	c.(913-915)Cct>Tct	p.P305S	ATP6V1C2_uc002rat.3_Intron	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	305					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		p.S305C(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		CCCTGATAGGCCTGCTGCGGG	0.587													30	53					0	0	1	0	0	T	10917798	C	T	10917798	3	4	85	1	0	0	0	0	1	0	0	0	1181	739	26	3	951	3	ATP6V1C2	2	10917798	Missense_Mutation	SNP	C	TCGA-DU-7009-01A-11D-2024-08		10917798	232281575	4	3651											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								26	28					0	0	1	0	0	T	209113112	C	T	209113112	3	4	85	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7009-01A-11D-2024-08	198195314	209113112	34086261	5	3652											
DCTD	1635	broad.mit.edu	37	chr4	183815663	183815663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcctggatgatgagcttagCgcattcattacaagggaaca	12	10	11	8	1	1	2	1	2	0	0	1	4	1	4	1	2	5	2	1	2	4	3			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr4:183815663C>T	uc003ivf.3	-	3	514	c.340G>A	c.(340-342)Gct>Act	p.A114T	DCTD_uc003ivg.3_Missense_Mutation_p.A125T|DCTD_uc010irw.3_Missense_Mutation_p.A55T|DCTD_uc003ivh.3_Missense_Mutation_p.A55T	NM_001921	NP_001912	P32321	DCTD_HUMAN	Homo sapiens dCMP deaminase (DCTD), transcript variant 2, mRNA.	114					nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding	p.A114T(2)		endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)		ATGAGCTTAGCGCATTCATTA	0.468													11	22					0	0	1	0	0	T	183815663	C	T	183815663	3	4	85	1	0	0	0	0	1	0	0	0	4305	768	27	1	208	1	DCTD	4	183815663	Missense_Mutation	SNP	C	TCGA-DU-7009-01A-11D-2024-08		183815663	7338613	6	3653											
NIPBL	25836	broad.mit.edu	37	chr5	36961657	36961657	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcatcttccaattatcaaCaaaccactatctcacatagc	14	11	2	14	0	3	0	2	0	2	0	5	0	4	0	2	0	4	1	2	0	6	4			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr5:36961657C>T	uc003jkl.4	+	4	929	c.430C>T	c.(430-432)Caa>Taa	p.Q144*	NIPBL_uc003jkk.4_Nonsense_Mutation_p.Q144*|NIPBL_uc003jkm.1_Nonsense_Mutation_p.Q23*	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	144					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAATTATCAACAAACCACTAT	0.338													33	57					0	0	1	0	0	T	36961657	C	T	36961657	4	4	85	1	0	0	0	0	0	1	0	0	10428	479	17	3	444	3	NIPBL	5	36961657	Nonsense_Mutation	SNP	C	TCGA-DU-7009-01A-11D-2024-08		36961657	143953603	7	3654											
SLC22A5	6584	broad.mit.edu	37	chr5	131722739	131722739	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccctgagtccccccgaTggctcatctctcagggacga	7	9	9	16	2	4	1	3	1	1	0	7	4	6	2	4	2	0	1	4	2	0	0	rs72552729		TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr5:131722739T>G	uc003kwx.4	+	5	1183	c.919T>G	c.(919-921)Tgg>Ggg	p.W307G	SLC22A5_uc003kww.4_Missense_Mutation_p.W283G|SLC22A5_uc010jdr.1_5'UTR	NM_003060	NP_003051	O76082	S22A5_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 5 (SLC22A5), mRNA.	283					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|PDZ domain binding|carnitine transporter activity|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	GTCCCCCCGATGGCTCATCTC	0.557											OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	78	137					0	0	1	0	0	G	131722739	T	G	131722739	3	3	85	1	0	0	0	0	1	0	0	0	14457	1464	51	5	865	5	SLC22A5	5	131722739	Missense_Mutation	SNP	T	TCGA-DU-7009-01A-11D-2024-08	94761082	131722739	49192521	8	3655											
THBS2	7058	broad.mit.edu	37	chr6	169621604	169621604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagccaatgttcctggggtCgtgccataaggttcgcacct	7	10	11	13	2	0	0	0	0	0	0	3	0	1	0	5	3	2	3	5	3	2	3			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr6:169621604C>T	uc003qwt.3	-	20	3540	c.3292G>A	c.(3292-3294)Gac>Aac	p.D1098N		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	1098	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TTCCTGGGGTCGTGCCATAAG	0.562													4	61					0	0	1	0	0	T	169621604	C	T	169621604	3	4	85	1	0	0	0	0	1	0	0	0	15851	884	31	2	238	2	THBS2	6	169621604	Missense_Mutation	SNP	C	TCGA-DU-7009-01A-11D-2024-08		169621604	1493463	9	3656											
PRUNE2	158471	broad.mit.edu	37	chr9	79324331	79324331	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcaccgaatcttctcctagGttggatgcactgtaatcaga	10	11	10	10	1	3	1	1	0	2	1	4	3	3	2	2	3	1	4	2	3	3	4			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr9:79324331G>A	uc010mpk.3	-	7	2983	c.2859C>T	c.(2857-2859)aaC>aaT	p.N953N	PRUNE2_uc022bih.1_Silent_p.N775N	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	953					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTTCTCCTAGGTTGGATGCAC	0.423													10	127					0	0	1	0	0	A	79324331	G	A	79324331	2	1	85	1	0	0	0	0	0	0	0	1	12641	1252	44	3		3	PRUNE2	9	79324331	Silent	SNP	G	TCGA-DU-7009-01A-11D-2024-08		79324331	61889100	10	3657											
ZMIZ1	57178	broad.mit.edu	37	chr10	81052015	81052015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggcagccgctgcagcagcgGcagtggcagcagcagcagcc	8	2	16	15	3	0	0	0	0	0	0	0	0	0	0	2	3	8	9	2	3	0	0			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr10:81052015G>A	uc001kaf.2	+	10	1431	c.859G>A	c.(859-861)Gca>Aca	p.A287T	ZMIZ1_uc001kag.2_Missense_Mutation_p.A163T|ZMIZ1_uc001kah.1_Missense_Mutation_p.A163T	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	287	Ala-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			tgcagcagcggcagtggcagc	0.652													9	87					0	0	1	0	0	A	81052015	G	A	81052015	3	1	85	1	0	0	0	0	1	0	0	0	17693	1203	42	3	885	3	ZMIZ1	10	81052015	Missense_Mutation	SNP	G	TCGA-DU-7009-01A-11D-2024-08		81052015	54482732	11	3658											
C11orf51	25906	broad.mit.edu	37	chr11	71821621	71821621	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttgccaataggaaccaggTtgttgtctttctccgcgatg	7	13	11	10	2	2	0	0	0	2	0	3	2	2	1	3	2	2	3	3	2	3	5			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr11:71821621T>C	uc009ytc.1	-	1	156	c.122A>G	c.(121-123)aAc>aGc	p.N41S	LRTOMT_uc010rqw.2_3'UTR|LRTOMT_uc010rqv.2_3'UTR|LRTOMT_uc001ors.4_3'UTR|C11orf51_uc001orv.3_Missense_Mutation_p.N50S|C11orf51_uc001orw.3_Missense_Mutation_p.N50S			P60006	CK051_HUMAN	Homo sapiens chromosome 11 open reading frame 51 (C11orf51), mRNA.	50						intracellular				endometrium(1)	1						AGGAACCAGGTTGTTGTCTTT	0.597													26	36					0	0	1	0	0	C	71821621	T	C	71821621	3	2	85	1	0	0	0	0	1	0	0	0	1646	1725	60	3	228	3	C11orf51	11	71821621	Missense_Mutation	SNP	T	TCGA-DU-7009-01A-11D-2024-08		71821621	63184895	12	3659											
WIF1	11197	broad.mit.edu	37	chr12	65460426	65460426	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagaaactgttacctttgTcacagttcactccatagaat	15	12	5	9	0	2	2	2	0	0	2	3	2	3	2	2	0	2	2	2	0	6	4			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr12:65460426T>C	uc001ssk.3	-	5	1100	c.725A>G	c.(724-726)gAc>gGc	p.D242G		NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	Homo sapiens WNT inhibitory factor 1 (WIF1), mRNA.	242	EGF-like 2.				Wnt receptor signaling pathway|multicellular organismal development	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		GTTACCTTTGTCACAGTTCAC	0.373			T	HMGA2	pleomorphic salivary gland adenoma								4	29					0	0	1	0	0	C	65460426	T	C	65460426	3	2	85	1	0	0	0	0	1	0	0	0	17363	1667	58	3	434	3	WIF1	12	65460426	Missense_Mutation	SNP	T	TCGA-DU-7009-01A-11D-2024-08		65460426	68391469	13	3660											
ANO4	121601	broad.mit.edu	37	chr12	101437335	101437335	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtaaagaagtctgccaagcTacagatatcatcatgtgtcc	14	10	8	9	0	3	2	2	0	1	2	4	2	4	2	2	0	3	2	2	0	6	3			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr12:101437335T>A	uc010svm.1	+	12	1745	c.1173T>A	c.(1171-1173)gcT>gcA	p.A391A	ANO4_uc001thw.2_Silent_p.A356A|ANO4_uc001thx.2_Silent_p.A391A	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	391						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TCTGCCAAGCTACAGATATCA	0.373										HNSCC(74;0.22)			15	36					0	0	1	0	0	A	101437335	T	A	101437335	2	1	85	1	0	0	0	0	0	0	0	1	699	1509	53	5		5	ANO4	12	101437335	Silent	SNP	T	TCGA-DU-7009-01A-11D-2024-08	35976909	101437335	32414560	14	3661											
TBC1D24	57465	broad.mit.edu	37	chr16	2550805	2550805	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgacctgagcatcctgcagGgggaggaggcggccaggcgc	7	4	18	12	2	0	2	0	2	0	0	1	4	1	4	3	6	2	2	3	6	0	0			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr16:2550805G>T	uc002cql.3	+	8	1666	c.1526_splice	c.e8-1	p.G509_splice	TBC1D24_uc002cqk.3_Splice_Site_p.G503_splice|TBC1D24_uc002cqm.3_Intron|TBC1D24_uc010bsm.3_Splice_Site	NM_001199107	NP_001186036	Q9ULP9	TBC24_HUMAN	Homo sapiens TBC1 domain family, member 24 (TBC1D24), transcript variant 1, mRNA.	509	TLD.				neuron projection development	cytoplasm	Rab GTPase activator activity|protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CATCCTGCAGGGGGAGGAGGC	0.662													3	16					0.004672	0.00481358	1	1	0	T	2550805	G	T	2550805	5	4	85	1	0	0	0	0	0	0	1	0	15611	1246	43	5	1530	5	TBC1D24	16	2550805	Splice_Site	SNP	G	TCGA-DU-7009-01A-11D-2024-08		2550805	87803948	15	3662											
SRRM2	23524	broad.mit.edu	37	chr16	2814039	2814039	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaaaagagaaaatggccttAccccctcaggaggatgctac	14	7	9	11	0	2	1	2	0	0	1	2	4	2	3	3	3	3	1	3	3	6	2			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr16:2814039A>T	uc002crk.3	+	10	4059	c.3510A>T	c.(3508-3510)ttA>ttT	p.L1170F	SRRM2_uc002crj.1_Missense_Mutation_p.L1074F|SRRM2_uc002crl.1_Missense_Mutation_p.L1170F|SRRM2_uc010bsu.1_Missense_Mutation_p.L1074F	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1170	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AAATGGCCTTACCCCCTCAGG	0.463													45	68					0	0	1	0	0	T	2814039	A	T	2814039	3	4	85	1	0	0	0	0	1	0	0	0	15168	388	14	5	3548	5	SRRM2	16	2814039	Missense_Mutation	SNP	A	TCGA-DU-7009-01A-11D-2024-08	263234	2814039	87540714	16	3663											
C17orf28	283987	broad.mit.edu	37	chr17	72959892	72959892	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcccctccagtcggggtcCtcaaagatgtagggcagcac	10	6	12	13	1	1	1	1	0	0	1	4	1	3	1	4	3	2	3	4	3	3	1			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr17:72959892C>T	uc002jmj.4	-	2	479	c.330G>A	c.(328-330)gaG>gaA	p.E110E	C17orf28_uc010wrs.2_5'UTR|C17orf28_uc002jmk.2_Silent_p.E110E	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA.	110						integral to membrane|plasma membrane	protein binding			endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1)	17	all_lung(278;0.151)|Lung NSC(278;0.185)					AGTCGGGGTCCTCAAAGATGT	0.667													3	30					0	0	1	0	0	T	72959892	C	T	72959892	2	4	85	1	0	0	0	0	0	0	0	1	1853	680	24	3		3	C17orf28	17	72959892	Silent	SNP	C	TCGA-DU-7009-01A-11D-2024-08		72959892	8235318	17	3664											
OGT	8473	broad.mit.edu	37	chrX	70793627	70793627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgattaagcctgttgaaGtcactgagtcagcataaata	15	11	8	7	0	2	3	2	3	0	0	2	3	2	3	1	0	2	2	1	0	5	4			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chrX:70793627G>A	uc004eaa.2	+	21	3362	c.3124G>A	c.(3124-3126)Gtc>Atc	p.V1042I	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Missense_Mutation_p.V1032I|OGT_uc004eac.3_Missense_Mutation_p.V903I|OGT_uc004ead.3_Missense_Mutation_p.V661I	NM_181672	NP_858058	O15294	OGT1_HUMAN	Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.	1042					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	MLL5-L complex|cytosol	enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GCCTGTTGAAGTCACTGAGTC	0.443													5	15					0	0	1	0	0	A	70793627	G	A	70793627	3	1	85	1	0	0	0	0	1	0	0	0	10847	1029	36	3	3210	3	OGT	23	70793627	Missense_Mutation	SNP	G	TCGA-DU-7009-01A-11D-2024-08		70793627	84476933	18	3665											
GRIA3	2892	broad.mit.edu	37	chrX	122616848	122616848	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acactcagaattatgctacaTacagagaaggctacaacgtg	16	8	8	9	1	1	2	1	0	0	2	1	3	1	2	0	1	5	2	0	1	7	4			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chrX:122616848T>A	uc004etq.4	+	14	2930	c.2638T>A	c.(2638-2640)Tac>Aac	p.Y880N	GRIA3_uc004etr.4_Missense_Mutation_p.Y880N|GRIA3_uc004ets.4_Non-coding_Transcript	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	880					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TTATGCTACATACAGAGAAGG	0.418													52	80					0	0	1	0	0	A	122616848	T	A	122616848	3	1	85	1	0	0	0	0	1	0	0	0	6769	1406	49	5	2815	5	GRIA3	23	122616848	Missense_Mutation	SNP	T	TCGA-DU-7009-01A-11D-2024-08	51823221	122616848	32653712	19	3666											
SLC9A6	10479	broad.mit.edu	37	chrX	135106545	135106545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatactgccacttatgcaCggcaaatgatgttcagcacc	12	9	9	11	1	1	2	1	1	0	1	1	3	1	2	2	1	4	4	2	1	3	3			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chrX:135106545C>T	uc004ezk.3	+	11	1595	c.1519C>T	c.(1519-1521)Cgg>Tgg	p.R507W	SLC9A6_uc011mvx.2_Missense_Mutation_p.R455W|SLC9A6_uc004ezj.3_Missense_Mutation_p.R475W	NM_001042537	NP_001036002	Q92581	SL9A6_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 6 (SLC9A6), transcript variant 1, mRNA.	475					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CACTTATGCACGGCAAATGAT	0.463													6	81					0	0	1	0	0	T	135106545	C	T	135106545	3	4	85	1	0	0	0	0	1	0	0	0	14718	527	19	1	1565	1	SLC9A6	23	135106545	Missense_Mutation	SNP	C	TCGA-DU-7009-01A-11D-2024-08	12489697	135106545	20164015	20	3667											
AFF2	2334	broad.mit.edu	37	chrX	148037323	148037323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtcaggtcccagctgaacCcaaagaaaggcctctcctca	12	6	8	15	0	3	2	2	1	1	1	5	2	4	2	4	2	2	1	4	2	3	0			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chrX:148037323C>T	uc004fcp.3	+	10	2227	c.1748C>T	c.(1747-1749)cCc>cTc	p.P583L	AFF2_uc004fcq.3_Missense_Mutation_p.P573L|AFF2_uc004fcr.3_Missense_Mutation_p.P544L|AFF2_uc011mxb.2_Missense_Mutation_p.P548L|AFF2_uc004fcs.3_Missense_Mutation_p.P550L|AFF2_uc011mxc.2_Missense_Mutation_p.P224L	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	583					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGCTGAACCCAAAGAAAGG	0.483													87	117					0	0	1	0	0	T	148037323	C	T	148037323	3	4	85	1	0	0	0	0	1	0	0	0	357	623	22	3	1845	3	AFF2	23	148037323	Missense_Mutation	SNP	C	TCGA-DU-7009-01A-11D-2024-08	12930778	148037323	7233237	21	3668											
PRAMEF2	65122	broad.mit.edu	37	chr1	12918902	12918902	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgagactactggagctggCggggcagagcctgctgagag	9	5	17	10	2	0	3	0	1	0	3	0	6	0	4	2	4	4	3	2	4	1	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:12918902C>A	uc001aum.1	+	1	125	c.38C>A	c.(37-39)gCg>gAg	p.A13E		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	13										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGAGCTGGCGGGGCAGAGC	0.567													27	160					1.75199e-13	1.97592e-13	1	1	0	A	12918902	C	A	12918902	3	1	86	1	0	0	0	0	1	0	0	0	12435	768	27	5	40	5	PRAMEF2	1	12918902	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08		12918902	236331719	1	3669											
KIAA1522	57648	broad.mit.edu	37	chr1	33236713	33236713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacccagccccctcagacCgctctgggccacagatattg	8	7	9	17	1	2	3	1	1	1	2	2	3	2	3	5	1	1	1	5	1	1	2			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:33236713C>T	uc001bvu.1	+	5	1977	c.1933C>T	c.(1933-1935)Cgc>Tgc	p.R645C	KIAA1522_uc010ohm.1_Missense_Mutation_p.R597C|KIAA1522_uc001bvv.2_Missense_Mutation_p.R586C|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	Homo sapiens KIAA1522 (KIAA1522), transcript variant 1, mRNA.	586	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCCCTCAGACCGCTCTGGGCC	0.617													18	146					0	0	1	0	0	T	33236713	C	T	33236713	3	4	86	1	0	0	0	0	1	0	0	0	8238	652	23	2	1955	2	KIAA1522	1	33236713	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	20317811	33236713	216013908	2	3670											
MACF1	23499	broad.mit.edu	37	chr1	39815264	39815264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagaaccacccagcaggatCtctctgctttgcagaagaac	12	7	9	13	0	2	3	0	0	2	3	3	4	2	4	2	1	5	4	2	1	3	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:39815264C>T	uc021olw.1	+	5	6250	c.6250C>T	c.(6250-6252)Ctc>Ttc	p.L2084F	MACF1_uc021ols.1_Missense_Mutation_p.L1582F|MACF1_uc001cdc.2_Missense_Mutation_p.L1582F|MACF1_uc021olt.1_Missense_Mutation_p.L1582F|MACF1_uc001cda.1_Missense_Mutation_p.L1490F|MACF1_uc001cdb.1_Missense_Mutation_p.L669F	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	3649					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAGCAGGATCTCTCTGCTTT	0.498													15	108					0	0	1	0	0	T	39815264	C	T	39815264	3	4	86	1	0	0	0	0	1	0	0	0	9144	913	32	3	11041	3	MACF1	1	39815264	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	6578551	39815264	209435357	3	3671											
ACOT11	26027	broad.mit.edu	37	chr1	55072901	55072901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacaaagccccaggacttcGtgatcctggcctcgaggcgg	9	6	12	14	3	0	1	0	1	0	0	3	3	1	2	4	4	1	0	4	4	1	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:55072901G>A	uc001cxm.2	+	13	1641	c.1465G>A	c.(1465-1467)Gtg>Atg	p.V489M	ACOT11_uc001cxj.2_Missense_Mutation_p.V367M|ACOT11_uc001cxl.2_Missense_Mutation_p.V489M	NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA.	489	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CCAGGACTTCGTGATCCTGGC	0.627													10	64					0	0	1	0	0	A	55072901	G	A	55072901	3	1	86	1	0	0	0	0	1	0	0	0	149	1145	40	1	1519	1	ACOT11	1	55072901	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	15257637	55072901	194177720	4	3672											
POLR3GL	84265	broad.mit.edu	37	chr1	145457015	145457015	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatgttcttcttcatcataCtcttcttcttcctcctcttc	4	21	1	15	0	9	0	3	0	6	0	12	0	11	0	2	0	1	1	2	0	1	8			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:145457015C>G	uc001enp.1	-	6	653	c.546G>C	c.(544-546)gaG>gaC	p.E182D		NM_032305	NP_115681	Q9BT43	RPC7L_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like (POLR3GL), mRNA.	182	Glu-rich.									endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					cttcatcatactcttcttctt	0.478													7	25					0	0	1	0	0	G	145457015	C	G	145457015	3	3	86	1	0	0	0	0	1	0	0	0	12235	564	20	5	118	5	POLR3GL	1	145457015	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	90384114	145457015	103793606	5	3673											
TCHHL1	126637	broad.mit.edu	37	chr1	152060485	152060485	+	Frame_Shift_Del	DEL	A	A	-																															ctctgtgagaagctcacctgAaaaaagtccccaaactcgcc																										TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:152060485delA	uc001ezo.1	-	1	200	c.135delT	c.(133-135)tttfs	p.F45fs		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	45							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AGCTCACCTGAAAAAAGTCCC	0.453													97	246	---	---	---	---						-	152060485	A	-	152060485	7	5	86	1	0	1	0	1	0	0	0	0	15698	243	9	0	2587	0	TCHHL1	1	152060485	Frame_Shift_Del	DEL	A	TCGA-DU-7010-01A-11D-2024-08	6603470	152060485	97190136	6	3674											
FLG	2312	broad.mit.edu	37	chr1	152284454	152284454	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgagcagatccacgatGgtttctggaagcagacccag	10	8	11	12	1	1	3	0	1	1	2	3	5	3	4	3	2	2	3	3	2	1	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:152284454G>T	uc001ezu.1	-	2	2944	c.2908C>A	c.(2908-2910)Cat>Aat	p.H970N	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	970	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCACGATGGTTTCTGGAA	0.582									Ichthyosis				63	450					1.41401e-22	1.68334e-22	1	1	0	T	152284454	G	T	152284454	3	4	86	1	0	0	0	0	1	0	0	0	5922	1348	47	5	9281	5	FLG	1	152284454	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	223969	152284454	96966167	7	3675											
BLZF1	8548	broad.mit.edu	37	chr1	169347582	169347582	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctaggtaaatcgtgagttAaaaaagttactggtggcttc	12	14	10	5	1	1	1	0	1	1	0	3	1	1	1	0	3	1	4	0	3	7	6			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:169347582A>G	uc001gfx.2	+	3	920	c.483A>G	c.(481-483)ttA>ttG	p.L161L	BLZF1_uc001gfy.3_Silent_p.L161L|BLZF1_uc009wvp.1_Silent_p.L138L	NM_003666	NP_003657	Q9H2G9	GO45_HUMAN	Homo sapiens basic leucine zipper nuclear factor 1 (BLZF1), mRNA.	161					Golgi organization|Golgi to plasma membrane protein transport|cell proliferation|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					ATCGTGAGTTAAAAAAGTTAC	0.343													59	119					0	0	1	0	0	G	169347582	A	G	169347582	2	3	86	1	0	0	0	0	0	0	0	1	1453	359	13	3		3	BLZF1	1	169347582	Silent	SNP	A	TCGA-DU-7010-01A-11D-2024-08	17063128	169347582	79903039	8	3676											
CACNA1E	777	broad.mit.edu	37	chr1	181684510	181684510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgaagaaaataaaaatgctgGaacatccgccttagaaggta	18	8	9	6	1	0	3	0	1	0	2	1	4	1	4	2	2	2	2	2	2	10	3			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:181684510G>A	uc009wxt.3	+	8	1403	c.1208G>A	c.(1207-1209)gGa>gAa	p.G403E	CACNA1E_uc001gow.3_Missense_Mutation_p.G403E|CACNA1E_uc009wxs.3_Missense_Mutation_p.G403E	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	403					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AAAAATGCTGGAACATCCGCC	0.373													4	12					0	0	1	0	0	A	181684510	G	A	181684510	3	1	86	1	0	0	0	0	1	0	0	0	2542	1174	41	3	1242	3	CACNA1E	1	181684510	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	12336928	181684510	67566111	9	3677											
PLA2G4A	5321	broad.mit.edu	37	chr1	186934577	186934577	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaatatatgagcctctggAtgtcaaaagtaaaaagattc	16	10	9	6	1	2	2	1	1	1	1	3	4	2	3	1	1	1	1	1	1	8	4			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:186934577A>G	uc001gsc.3	+	14	1821	c.1616A>G	c.(1615-1617)gAt>gGt	p.D539G	PLA2G4A_uc010pos.2_Missense_Mutation_p.D479G	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	539	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	GAGCCTCTGGATGTCAAAAGT	0.353													14	72					0	0	1	0	0	G	186934577	A	G	186934577	3	3	86	1	0	0	0	0	1	0	0	0	12001	333	12	3	1670	3	PLA2G4A	1	186934577	Missense_Mutation	SNP	A	TCGA-DU-7010-01A-11D-2024-08	5250067	186934577	62316044	10	3678											
IKBKE	9641	broad.mit.edu	37	chr1	206649566	206649566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaacggcattgtgcatcGcgacatcaagccggggaaca	12	5	14	10	4	1	1	1	0	0	1	2	4	1	2	1	4	4	2	1	4	3	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:206649566G>A	uc001hdz.2	+	5	979	c.401G>A	c.(400-402)cGc>cAc	p.R134H	IKBKE_uc009xbu.2_Missense_Mutation_p.R134H|IKBKE_uc001hea.2_Missense_Mutation_p.R49H|IKBKE_uc009xbv.2_Missense_Mutation_p.R134H	NM_014002	NP_001180250	Q14164	IKKE_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon (IKBKE), transcript variant 1, mRNA.	134	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	PML body|cytosol|endosome membrane|plasma membrane	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding	p.R134R(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					ATTGTGCATCGCGACATCAAG	0.622													5	68					0	0	1	0	0	A	206649566	G	A	206649566	3	1	86	1	0	0	0	0	1	0	0	0	7612	1087	38	1	415	1	IKBKE	1	206649566	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	19714989	206649566	42601055	11	3679											
OR2M5	127059	broad.mit.edu	37	chr1	248309136	248309136	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgtcattcacatgggAtctggagagggtcgtcgcaa	8	10	14	9	2	3	1	2	0	1	1	5	3	3	2	0	4	0	2	0	4	1	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:248309136A>T	uc010pze.2	+	0	687	c.687A>T	c.(685-687)ggA>ggT	p.G229G		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TTCACATGGGATCTGGAGAGG	0.443													55	317					0	0	1	0	0	T	248309136	A	T	248309136	2	4	86	1	0	0	0	0	0	0	0	1	11013	320	12	5		5	OR2M5	1	248309136	Silent	SNP	A	TCGA-DU-7010-01A-11D-2024-08	41659570	248309136	941485	12	3680											
OR2T4	127074	broad.mit.edu	37	chr1	248525025	248525025	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcggatttcatcctgttggGactcttcagacaatccaaac	10	12	8	11	1	3	1	2	0	1	1	6	3	5	3	2	2	1	1	2	2	2	3			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:248525025G>T	uc001ieh.1	+	0	143	c.143G>T	c.(142-144)gGa>gTa	p.G48V		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCCTGTTGGGACTCTTCAGA	0.458													26	159					1.1804e-14	1.362e-14	1	1	0	T	248525025	G	T	248525025	3	4	86	1	0	0	0	0	1	0	0	0	11027	1174	41	5	145	5	OR2T4	1	248525025	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	215889	248525025	725596	13	3681											
CCT7	10574	broad.mit.edu	37	chr2	73466844	73466844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcttgtgagtaacatcaGtgcctgccaggtgattgctg	8	11	12	10	0	1	2	1	2	0	0	1	2	1	2	3	1	5	3	3	1	1	3			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr2:73466844G>A	uc002siz.3	+	1	223	c.80G>A	c.(79-81)aGt>aAt	p.S27N	CCT7_uc010yrf.2_5'UTR|CCT7_uc010yrh.2_5'UTR|CCT7_uc010yrg.2_5'UTR|CCT7_uc010yri.2_Intron|CCT7_uc002sja.3_Intron	NM_006429	NP_001159757	Q99832	TCPH_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 7 (eta) (CCT7), transcript variant 1, mRNA.	27					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						AGTAACATCAGTGCCTGCCAG	0.488													7	23					0	0	1	0	0	A	73466844	G	A	73466844	3	1	86	1	0	0	0	0	1	0	0	0	2959	1029	36	3	86	3	CCT7	2	73466844	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08		73466844	169732529	14	3682											
EDAR	10913	broad.mit.edu	37	chr2	109546658	109546658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagtactcgttctcaccgCagtttgagtattccgctcgg	6	14	10	11	4	1	1	1	1	1	0	5	1	2	1	2	1	1	7	2	1	3	6			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr2:109546658C>T	uc010fjn.3	-	3	639	c.92G>A	c.(91-93)tGc>tAc	p.C31Y	EDAR_uc010yws.2_Missense_Mutation_p.C31Y|EDAR_uc002teq.4_Missense_Mutation_p.C31Y	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	31					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GTTCTCACCGCAGTTTGAGTA	0.602													5	34					0	0	1	0	0	T	109546658	C	T	109546658	3	4	86	1	0	0	0	0	1	0	0	0	4905	710	25	3	1294	3	EDAR	2	109546658	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	36079814	109546658	133652715	15	3683											
CCDC148	130940	broad.mit.edu	37	chr2	159201746	159201746	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgacttcattcagcctctGgtattcctgccaccacactt	7	13	5	16	0	3	1	2	1	1	0	4	1	4	1	5	1	2	1	5	1	1	5			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr2:159201746G>C	uc002tzq.3	-	2	546	c.232C>G	c.(232-234)Cag>Gag	p.Q78E	CCDC148_uc002tzr.3_Intron|CCDC148_uc010foh.3_Intron|CCDC148_uc010fok.2_Intron|CCDC148_uc010foi.2_Missense_Mutation_p.Q25E|CCDC148_uc010foj.2_Intron|CCDC148_uc002tzs.2_Missense_Mutation_p.Q78E	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	Homo sapiens coiled-coil domain containing 148 (CCDC148), transcript variant 1, mRNA.	78										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TTCAGCCTCTGGTATTCCTGC	0.383													24	125					0	0	1	0	0	C	159201746	G	C	159201746	3	2	86	1	0	0	0	0	1	0	0	0	2782	1357	47	5	1643	5	CCDC148	2	159201746	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	49655088	159201746	83997627	16	3684											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								22	43					0	0	1	0	0	T	209113112	C	T	209113112	3	4	86	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	49911366	209113112	34086261	17	3685											
SLC4A3	6508	broad.mit.edu	37	chr2	220497018	220497018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacgagctgatgctggaccGcagccaggagccccactggc	9	4	14	14	2	0	1	0	1	0	0	0	5	0	3	4	3	5	3	4	3	1	0			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr2:220497018G>A	uc002vmo.4	+	7	1285	c.1076G>A	c.(1075-1077)cGc>cAc	p.R359H	SLC4A3_uc002vmp.4_Missense_Mutation_p.R332H|SLC4A3_uc010fwm.3_5'UTR|SLC4A3_uc010fwn.1_5'UTR	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	332					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGCTGGACCGCAGCCAGGAG	0.667													4	34					0	0	1	0	0	A	220497018	G	A	220497018	3	1	86	1	0	0	0	0	1	0	0	0	14655	1087	38	1	1102	1	SLC4A3	2	220497018	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	11383906	220497018	22702355	18	3686											
BRPF1	7862	broad.mit.edu	37	chr3	9781283	9781283	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcaggggcctgcatccagtgCcacaaggccaactgttacac	10	7	10	14	0	1	0	1	0	0	0	2	0	2	0	4	3	4	2	4	3	3	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr3:9781283C>T	uc003bse.3	+	2	1599	c.1200C>T	c.(1198-1200)tgC>tgT	p.C400C	BRPF1_uc003bsf.3_Silent_p.C400C|BRPF1_uc003bsg.3_Silent_p.C400C|BRPF1_uc011ati.2_Silent_p.C400C	NM_004634	NP_004625	P55201	BRPF1_HUMAN	Homo sapiens bromodomain and PHD finger containing, 1 (BRPF1), transcript variant 2, mRNA.	400					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|cytoplasm|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GCATCCAGTGCCACAAGGCCA	0.572													20	59					0	0	1	0	0	T	9781283	C	T	9781283	2	4	86	1	0	0	0	0	0	0	0	1	1520	747	26	3		3	BRPF1	3	9781283	Silent	SNP	C	TCGA-DU-7010-01A-11D-2024-08		9781283	188241147	19	3687											
SACM1L	22908	broad.mit.edu	37	chr3	45744968	45744968	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttatgtggaagcttgtgAtgatggagcagatgacgtac	11	13	13	4	1	0	4	0	3	0	1	0	6	0	6	0	2	3	3	0	2	3	4			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr3:45744968A>G	uc003cos.2	+	1	275	c.71A>G	c.(70-72)gAt>gGt	p.D24G	SACM1L_uc011bag.1_5'UTR|SACM1L_uc011bah.1_Missense_Mutation_p.M1V	NM_014016	NP_054735	Q9NTJ5	SAC1_HUMAN	Homo sapiens SAC1 suppressor of actin mutations 1-like (yeast) (SACM1L), mRNA.	24						Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		GAAGCTTGTGATGATGGAGCA	0.358													18	52					0	0	1	0	0	G	45744968	A	G	45744968	3	3	86	1	0	0	0	0	1	0	0	0	13803	333	12	3	77	3	SACM1L	3	45744968	Missense_Mutation	SNP	A	TCGA-DU-7010-01A-11D-2024-08	35963685	45744968	152277462	20	3688											
PARL	55486	broad.mit.edu	37	chr3	183580581	183580581	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacttaggttattccaccaCttgttaatctaaaacagaca	14	13	4	10	0	2	1	1	0	1	1	3	1	3	1	2	1	1	2	2	1	5	6			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr3:183580581C>T	uc003fmd.3	-	3	530	c.471G>A	c.(469-471)aaG>aaA	p.K157K	PARL_uc003fme.3_Silent_p.K157K	NM_018622	NP_061092	Q9H300	PARL_HUMAN	Homo sapiens presenilin associated, rhomboid-like (PARL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	157					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TATTCCACCACTTGTTAATCT	0.393													4	46					0	0	1	0	0	T	183580581	C	T	183580581	2	4	86	1	0	0	0	0	0	0	0	1	11451	564	20	3		3	PARL	3	183580581	Silent	SNP	C	TCGA-DU-7010-01A-11D-2024-08	137835613	183580581	14441849	21	3689											
GAK	2580	broad.mit.edu	37	chr4	861174	861174	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccatcagggcagactcgctCtccttggaagaggcattttc	8	11	10	12	1	2	2	1	0	1	2	6	3	3	3	2	3	0	3	2	3	1	3			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr4:861174C>G	uc003gbm.4	-	20	2641	c.2442G>C	c.(2440-2442)gaG>gaC	p.E814D	GAK_uc003gbn.4_Missense_Mutation_p.E735D|GAK_uc010ibk.1_Missense_Mutation_p.E708D|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Missense_Mutation_p.E678D	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	814					cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CAGACTCGCTCTCCTTGGAAG	0.587													18	90					0	0	1	0	0	G	861174	C	G	861174	3	3	86	1	0	0	0	0	1	0	0	0	6195	912	32	5	1525	5	GAK	4	861174	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08		861174	190293102	22	3690											
PPP2R2C	5522	broad.mit.edu	37	chr4	6325273	6325273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacgtcccgcttggtgttcCgatcgaacatgcggaagaag	9	9	12	11	5	1	1	1	0	0	1	4	4	3	2	2	2	2	2	2	2	3	2			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr4:6325273C>T	uc003gja.3	-	8	1124	c.1100G>A	c.(1099-1101)cGg>cAg	p.R367Q	PPP2R2C_uc003gjb.3_Missense_Mutation_p.R350Q|PPP2R2C_uc003gjc.3_Missense_Mutation_p.R367Q|PPP2R2C_uc011bwd.2_Missense_Mutation_p.R360Q|PPP2R2C_uc011bwe.2_Missense_Mutation_p.R360Q	NM_181876	NP_870991	Q9Y2T4	2ABG_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, gamma (PPP2R2C), transcript variant 2, mRNA.	367					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						CTTGGTGTTCCGATCGAACAT	0.642													6	42					0	0	1	0	0	T	6325273	C	T	6325273	3	4	86	1	0	0	0	0	1	0	0	0	12386	652	23	2	247	2	PPP2R2C	4	6325273	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	5464099	6325273	184829003	23	3691											
ARAP2	116984	broad.mit.edu	37	chr4	36126576	36126576	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattttttaattctttccttGtcatcttgcgtatctgaagg	7	21	6	7	1	4	1	1	1	3	0	5	1	5	1	1	1	1	1	1	1	4	9			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr4:36126576G>T	uc003gsq.2	-	21	3992	c.3654C>A	c.(3652-3654)gaC>gaA	p.D1218E		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1218	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTCTTTCCTTGTCATCTTGCG	0.368													11	64					1.58986e-06	1.71568e-06	1	1	0	T	36126576	G	T	36126576	3	4	86	1	0	0	0	0	1	0	0	0	839	1368	48	5	1508	5	ARAP2	4	36126576	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	29801303	36126576	155027700	24	3692											
TLR10	81793	broad.mit.edu	37	chr4	38776590	38776590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaagtcttgattccatcacGcaaaagaacccagaaatttg	15	10	7	9	1	2	4	1	2	1	2	3	4	3	4	2	0	1	1	2	0	5	3			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr4:38776590G>A	uc003gtj.3	-	3	1260	c.622C>T	c.(622-624)Cgt>Tgt	p.R208C	TLR10_uc021xnk.1_Missense_Mutation_p.R194C|TLR10_uc003gti.3_Missense_Mutation_p.R208C|TLR10_uc021xnl.1_Missense_Mutation_p.R208C|TLR10_uc003gtk.3_Missense_Mutation_p.R208C|TLR10_uc021xnm.1_Missense_Mutation_p.R208C	NM_030956	NP_001182037	Q9BXR5	TLR10_HUMAN	Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA.	208					MyD88-dependent toll-like receptor signaling pathway|inflammatory response|innate immune response	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						ATTCCATCACGCAAAAGAACC	0.338													8	80					0	0	1	0	0	A	38776590	G	A	38776590	3	1	86	1	0	0	0	0	1	0	0	0	15947	1087	38	1	1817	1	TLR10	4	38776590	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	2650014	38776590	152377686	25	3693											
TBCK	93627	broad.mit.edu	37	chr4	106967769	106967769	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgaggaggcctgttggcttTattttattaatgccaccatc	8	15	10	8	0	0	1	0	1	0	0	1	2	0	2	3	3	1	2	3	3	3	6			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr4:106967769T>C	uc010ilv.2	-	25	3005	c.2640A>G	c.(2638-2640)atA>atG	p.I880M	TBCK_uc003hyb.2_Missense_Mutation_p.I623M|TBCK_uc003hye.2_Missense_Mutation_p.I841M|TBCK_uc003hyc.2_Missense_Mutation_p.I817M|TBCK_uc003hyd.2_Missense_Mutation_p.I708M|TBCK_uc003hyf.2_Missense_Mutation_p.I880M	NM_001163435	NP_001156908	Q8TEA7	TBCK_HUMAN	Homo sapiens TBC1 domain containing kinase (TBCK), transcript variant 1, mRNA.	880	Rhodanese.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CTGTTGGCTTTATTTTATTAA	0.408													12	23					0	0	1	0	0	C	106967769	T	C	106967769	3	2	86	1	0	0	0	0	1	0	0	0	15633	1744	61	3	45	3	TBCK	4	106967769	Missense_Mutation	SNP	T	TCGA-DU-7010-01A-11D-2024-08	68191179	106967769	84186507	26	3694											
CLPTM1L	81037	broad.mit.edu	37	chr5	1330403	1330403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggaactcacctcaatggCggctccaacacccgccggga	9	4	10	18	4	2	0	2	0	0	0	3	2	3	2	5	4	2	1	5	4	3	0			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr5:1330403C>T	uc003jch.3	-	8	1118	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T	CLPTM1L_uc003jcg.3_Intron	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	Homo sapiens CLPTM1-like (CLPTM1L), mRNA.	358					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		ACCTCAATGGCGGCTCCAACA	0.622													10	77					0	0	1	0	0	T	1330403	C	T	1330403	3	4	86	1	0	0	0	0	1	0	0	0	3555	768	27	1	580	1	CLPTM1L	5	1330403	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08		1330403	179584857	27	3695											
CDH12	1010	broad.mit.edu	37	chr5	21817163	21817163	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatttctgcattttgtccaAaatcaggatccacagctctt	11	14	5	11	0	3	0	1	0	2	0	5	1	5	1	2	1	2	2	2	1	3	4			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr5:21817163A>C	uc010iuc.2	-	5	1351	c.893T>G	c.(892-894)tTt>tGt	p.F298C	CDH12_uc011cno.1_Missense_Mutation_p.F258C|CDH12_uc003jgk.2_Missense_Mutation_p.F298C	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	298	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ATTTTGTCCAAAATCAGGATC	0.388										HNSCC(59;0.17)			23	88					0	0	1	0	0	C	21817163	A	C	21817163	3	2	86	1	0	0	0	0	1	0	0	0	3098	14	1	5	1519	5	CDH12	5	21817163	Missense_Mutation	SNP	A	TCGA-DU-7010-01A-11D-2024-08	20486760	21817163	159098097	28	3696											
APC	324	broad.mit.edu	37	chr5	112176714	112176714	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagagagttttctcagacaAcaaagattcaaagaaacaga	19	8	8	6	0	2	6	2	1	1	5	3	7	2	6	0	0	2	1	0	0	4	3			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr5:112176714A>C	uc003kpz.4	+	16	5616	c.5423A>C	c.(5422-5424)aAc>aCc	p.N1808T	APC_uc011cvt.2_Missense_Mutation_p.N1790T|APC_uc003kpy.4_Missense_Mutation_p.N1808T|APC_uc010jbz.3_Missense_Mutation_p.N1525T|APC_uc010jca.3_Missense_Mutation_p.N1108T	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1808	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TTCTCAGACAACAAAGATTCA	0.313		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			7	36					0	0	1	0	0	C	112176714	A	C	112176714	3	2	86	1	0	0	0	0	1	0	0	0	763	43	2	5	5481	5	APC	5	112176714	Missense_Mutation	SNP	A	TCGA-DU-7010-01A-11D-2024-08	90359551	112176714	68738546	29	3697											
FBN2	2201	broad.mit.edu	37	chr5	127730892	127730892	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctcacagcagcactgcattTtcgtcattctccccgggagc	7	10	9	15	2	3	0	2	0	1	0	5	1	3	1	2	1	4	4	2	1	0	3			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr5:127730892T>G	uc003kuu.3	-	8	1593	c.1154A>C	c.(1153-1155)aAa>aCa	p.K385T	FBN2_uc003kuv.2_Missense_Mutation_p.K352T	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	385	TB 2.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCACTGCATTTTCGTCATTCT	0.547													5	24					0	0	1	0	0	G	127730892	T	G	127730892	3	3	86	1	0	0	0	0	1	0	0	0	5703	1841	64	5	7812	5	FBN2	5	127730892	Missense_Mutation	SNP	T	TCGA-DU-7010-01A-11D-2024-08	15554178	127730892	53184368	30	3698											
SQSTM1	8878	broad.mit.edu	37	chr5	179247941	179247941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcgccgctcgctatggCgtcgctcaccgtgaaggcct	5	8	12	16	6	1	1	1	1	0	0	4	1	1	1	3	2	1	4	3	2	2	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr5:179247941C>T	uc003mkw.4	+	0	100	c.5C>T	c.(4-6)gCg>gTg	p.A2V	SQSTM1_uc011dgr.2_Intron|SQSTM1_uc011dgs.2_Intron|SQSTM1_uc003mkx.3_5'Flank	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	Homo sapiens sequestosome 1 (SQSTM1), transcript variant 1, mRNA.	2	Interaction with LCK.				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	SH2 domain binding|protein kinase C binding|receptor tyrosine kinase binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCGCTATGGCGTCGCTCACC	0.716													3	6					0	0	1	0	0	T	179247941	C	T	179247941	3	4	86	1	0	0	0	0	1	0	0	0	15129	768	27	1	7	1	SQSTM1	5	179247941	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	51517049	179247941	1667319	31	3699											
FLT4	2324	broad.mit.edu	37	chr5	180043382	180043382	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcacactgcccttgcggacGtagtcggggtctttgtagat	6	12	12	11	3	2	1	1	0	1	1	3	2	2	2	1	3	2	2	1	3	2	4			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr5:180043382G>A	uc003mlz.4	-	22	3283	c.3204C>T	c.(3202-3204)taC>taT	p.Y1068Y	FLT4_uc003mma.4_Silent_p.Y1068Y	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	1068	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CCTTGCGGACGTAGTCGGGGT	0.597													12	46					0	0	1	0	0	A	180043382	G	A	180043382	2	1	86	1	0	0	0	0	0	0	0	1	5944	1140	40	1		1	FLT4	5	180043382	Silent	SNP	G	TCGA-DU-7010-01A-11D-2024-08	795441	180043382	871878	32	3700											
DNAH8	1769	broad.mit.edu	37	chr6	38690922	38690922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggaggtcctccagatacCgccggagtatgagtggcctt	7	8	13	13	3	0	2	0	1	0	1	2	4	2	4	6	4	1	1	6	4	2	3			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr6:38690922C>T	uc021yzh.1	+	1	446	c.337C>T	c.(337-339)Cgc>Tgc	p.R113C	DNAH8_uc003ooe.2_5'UTR	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.R113C(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTCCAGATACCGCCGGAGTAT	0.488													25	26					0	0	1	0	0	T	38690922	C	T	38690922	3	4	86	1	0	0	0	0	1	0	0	0	4607	667	23	2		2	DNAH8	6	38690922	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08		38690922	132424145	33	3701											
LPA	4018	broad.mit.edu	37	chr6	161027642	161027642	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatccctcgtataacaataAggggctgccacaggatctgg	11	8	12	10	1	1	0	0	0	1	0	3	2	2	2	2	5	2	2	2	5	4	3			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr6:161027642A>G	uc003qtl.3	-	17	2772	c.2652T>C	c.(2650-2652)ccT>ccC	p.P884P		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3392	Kringle 8.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.P884A(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TATAACAATAAGGGGCTGCCA	0.522													83	127					0	0	1	0	0	G	161027642	A	G	161027642	2	3	86	1	0	0	0	0	0	0	0	1	8903	59	3	4		4	LPA	6	161027642	Silent	SNP	A	TCGA-DU-7010-01A-11D-2024-08	122336720	161027642	10087425	34	3702											
CYTH3	9265	broad.mit.edu	37	chr7	6217518	6217518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttataaaggaactgggCgacgtcttctggggaactct	9	12	11	9	2	3	0	0	0	3	0	4	3	4	2	1	4	2	0	1	4	5	4			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr7:6217518C>T	uc003spt.3	-	4	408	c.304G>A	c.(304-306)Gcc>Acc	p.A102T		NM_004227	NP_004218	O43739	CYH3_HUMAN	Homo sapiens cytohesin 3 (CYTH3), mRNA.	102	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						AGGAACTGGGCGACGTCTTCT	0.463													16	74					0	0	1	0	0	T	6217518	C	T	6217518	3	4	86	1	0	0	0	0	1	0	0	0	4205	768	27	1	931	1	CYTH3	7	6217518	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08		6217518	152921145	35	3703											
MEOX2	4223	broad.mit.edu	37	chr7	15652021	15652021	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtttatatcataagtgCgcatgctctgagctgtggtc	7	15	10	9	1	3	1	1	1	2	0	4	1	3	1	0	1	3	4	0	1	3	4			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr7:15652021C>T	uc003stc.3	-	2	1187	c.906G>A	c.(904-906)gcG>gcA	p.A302A		NM_005924	NP_005915	P50222	MEOX2_HUMAN	Homo sapiens mesenchyme homeobox 2 (MEOX2), mRNA.	302					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A302A(4)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		ATCATAAGTGCGCATGCTCTG	0.478													9	66					0	0	1	0	0	T	15652021	C	T	15652021	2	4	86	1	0	0	0	0	0	0	0	1	9474	755	27	1		1	MEOX2	7	15652021	Silent	SNP	C	TCGA-DU-7010-01A-11D-2024-08	9434503	15652021	143486642	36	3704											
TTC26	79989	broad.mit.edu	37	chr7	138863316	138863316	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttatgcccaagccaaagctgCaacaggcaataccagtgagg	14	6	10	11	0	0	1	0	1	0	0	0	1	0	1	3	2	6	3	3	2	6	2			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr7:138863316C>G	uc003vus.2	+	13	1328	c.1214C>G	c.(1213-1215)gCa>gGa	p.A405G	TTC26_uc011kqn.1_Missense_Mutation_p.A405G|TTC26_uc011kqo.1_Missense_Mutation_p.A374G|TTC26_uc011kqp.1_Missense_Mutation_p.A300G|TTC26_uc003vut.2_Missense_Mutation_p.A265G|TTC26_uc011kqq.1_Missense_Mutation_p.A274G	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN	Homo sapiens tetratricopeptide repeat domain 26 (TTC26), transcript variant 1, mRNA.	405							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						GCCAAAGCTGCAACAGGCAAT	0.368													8	57					0	0	1	0	0	G	138863316	C	G	138863316	3	3	86	1	0	0	0	0	1	0	0	0	16691	710	25	5	1268	5	TTC26	7	138863316	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	123211295	138863316	20275347	37	3705											
SSPO	23145	broad.mit.edu	37	chr7	149474867	149474867	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctgcacctacctgctggcGggtgctgcggactccacctg	4	8	13	16	3	0	0	0	0	0	0	1	1	1	1	4	3	5	4	4	3	1	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr7:149474867G>A	uc010lpk.3	+	4	666	c.666G>A	c.(664-666)gcG>gcA	p.A222A	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	222	VWFD 1.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACCTGCTGGCGGGTGCTGCGG	0.682													5	12					0	0	1	0	0	A	149474867	G	A	149474867	2	1	86	1	0	0	0	0	0	0	0	1	15188	1103	39	2		2	SSPO	7	149474867	Silent	SNP	G	TCGA-DU-7010-01A-11D-2024-08	10611551	149474867	9663796	38	3706											
MTMR7	9108	broad.mit.edu	37	chr8	17218649	17218649	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtctctattcacatcgcTgagctgccagtaatgattag	10	13	9	9	1	2	2	1	2	1	0	4	2	2	2	1	0	2	4	1	0	4	5			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr8:17218649T>A	uc003wxm.3	-	3	684	c.445A>T	c.(445-447)Agc>Tgc	p.S149C		NM_004686	NP_004677	Q9Y216	MTMR7_HUMAN	Homo sapiens myotubularin related protein 7 (MTMR7), mRNA.	149	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TTCACATCGCTGAGCTGCCAG	0.473													30	50					0	0	1	0	0	A	17218649	T	A	17218649	3	1	86	1	0	0	0	0	1	0	0	0	9948	1580	55	5	1581	5	MTMR7	8	17218649	Missense_Mutation	SNP	T	TCGA-DU-7010-01A-11D-2024-08		17218649	129145373	39	3707											
ADAM2	2515	broad.mit.edu	37	chr8	39695695	39695695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgctgagcagaaacaagaCgcgccacatggcttgaagtc	12	5	11	13	3	0	4	0	2	0	2	1	4	0	4	2	1	2	3	2	1	3	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr8:39695695C>T	uc003xnj.3	-	0	85	c.10G>A	c.(10-12)Gtc>Atc	p.V4I	ADAM2_uc003xnk.3_Missense_Mutation_p.V4I|ADAM2_uc011lck.2_Missense_Mutation_p.V4I|ADAM2_uc003xnl.3_Missense_Mutation_p.V4I	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	4					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.R3H(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AGAAACAAGACGCGCCACATG	0.612													5	31					0	0	1	0	0	T	39695695	C	T	39695695	3	4	86	1	0	0	0	0	1	0	0	0	241	536	19	1	2277	1	ADAM2	8	39695695	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	22477046	39695695	106668327	40	3708											
OC90	729330	broad.mit.edu	37	chr8	133044199	133044199	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccataagactcaaattcctcCgggcaccgggatgtcagaca	12	7	9	13	2	2	2	2	0	0	2	4	3	4	3	4	2	0	1	4	2	2	2			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr8:133044199C>T	uc003ytg.2	-	10	960	c.960G>A	c.(958-960)ccG>ccA	p.P320P	OC90_uc011lix.1_Silent_p.P320P	NM_001080399	NP_001073868	Q02509	OC90_HUMAN	Homo sapiens otoconin 90 (OC90), mRNA.	336					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	p.C319F(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CAAATTCCTCCGGGCACCGGG	0.547													13	45					0	0	1	0	0	T	133044199	C	T	133044199	2	4	86	1	0	0	0	0	0	0	0	1	10814	639	23	2		2	OC90	8	133044199	Silent	SNP	C	TCGA-DU-7010-01A-11D-2024-08	93348504	133044199	13319823	41	3709											
GSDMD	79792	broad.mit.edu	37	chr8	144641509	144641509	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcccctcctcaggagcatgGggtcggcctttgagcgggta	5	10	14	12	2	1	1	1	1	0	0	4	2	3	2	4	5	2	2	4	5	1	3			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr8:144641509G>T	uc003yyf.3	+	2	191	c.148G>T	c.(148-150)Ggg>Tgg	p.G50W	GSDMD_uc010mfe.3_Missense_Mutation_p.G2W|GSDMD_uc003yyi.3_Missense_Mutation_p.G2W|GSDMD_uc003yyg.3_Missense_Mutation_p.G2W|GSDMD_uc003yyh.3_Missense_Mutation_p.G2W	NM_024736	NP_079012	P57764	GSDMD_HUMAN	Homo sapiens gasdermin D (GSDMD), transcript variant 1, mRNA.	2										breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						CAGGAGCATGGGGTCGGCCTT	0.627													10	26					0.0692343	0.0701699	1	1	0	T	144641509	G	T	144641509	3	4	86	1	0	0	0	0	1	0	0	0	6819	1232	43	5	6	5	GSDMD	8	144641509	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	11597310	144641509	1722513	42	3710											
MPDZ	8777	broad.mit.edu	37	chr9	13138059	13138059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctggatcggtctttgttcCcagcaagacttaggcccaaa	9	11	9	12	1	1	1	0	0	1	1	4	2	3	2	3	3	1	2	3	3	3	3			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr9:13138059C>T	uc010mia.1	-	27	4154	c.4097G>A	c.(4096-4098)gGg>gAg	p.G1366E	MPDZ_uc003zky.4_5'Flank|MPDZ_uc010mib.3_Missense_Mutation_p.G71E|MPDZ_uc010mhx.3_Missense_Mutation_p.G188E|MPDZ_uc011lmm.2_Missense_Mutation_p.G225E|MPDZ_uc003zkz.4_Missense_Mutation_p.G59E|MPDZ_uc010mhz.3_Missense_Mutation_p.G1333E|MPDZ_uc011lmn.2_Missense_Mutation_p.G1333E|MPDZ_uc010mhy.3_Missense_Mutation_p.G1366E|MPDZ_uc003zlb.4_Missense_Mutation_p.G1366E	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	1366	PDZ 8.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GTCTTTGTTCCCAGCAAGACT	0.448													12	65					0	0	1	0	0	T	13138059	C	T	13138059	3	4	86	1	0	0	0	0	1	0	0	0	9722	623	22	3	2100	3	MPDZ	9	13138059	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08		13138059	128075372	43	3711			1	6		2	2	22	C		7.868742e-05
MPDZ	8777	broad.mit.edu	37	chr9	13138080	13138080	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagcaagacttaggcccaaaCcactatgacctttctccagt	12	9	6	14	0	1	2	0	1	1	1	2	2	1	2	4	1	2	1	4	1	4	3			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr9:13138080C>G	uc010mia.1	-	27	4133	c.4076G>C	c.(4075-4077)gGt>gCt	p.G1359A	MPDZ_uc003zky.4_5'Flank|MPDZ_uc010mib.3_Missense_Mutation_p.G64A|MPDZ_uc010mhx.3_Missense_Mutation_p.G181A|MPDZ_uc011lmm.2_Missense_Mutation_p.G218A|MPDZ_uc003zkz.4_Missense_Mutation_p.G52A|MPDZ_uc010mhz.3_Missense_Mutation_p.G1326A|MPDZ_uc011lmn.2_Missense_Mutation_p.G1326A|MPDZ_uc010mhy.3_Missense_Mutation_p.G1359A|MPDZ_uc003zlb.4_Missense_Mutation_p.G1359A	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	1359	PDZ 8.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TAGGCCCAAACCACTATGACC	0.438													9	68					0	0	1	0	0	G	13138080	C	G	13138080	3	3	86	1	0	0	0	0	1	0	0	0	9722	507	18	5	2121	5	MPDZ	9	13138080	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	21	13138080	128075351	44	3712			1	6		2	2	22	C		7.868742e-05
IFNA5	3442	broad.mit.edu	37	chr9	21304957	21304957	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctagaagtgtctcatccCaagtagcagatgagtccttt	10	13	9	9	0	2	3	1	1	2	2	5	3	4	3	2	0	1	2	2	0	4	3			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr9:21304957C>A	uc011lnh.2	-	0	356	c.299G>T	c.(298-300)tGg>tTg	p.W100L		NM_002169	NP_002160	P01569	IFNA5_HUMAN	Homo sapiens interferon, alpha 5 (IFNA5), mRNA.	100					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TGTCTCATCCCAAGTAGCAGA	0.483													39	225					8.73648e-17	1.01587e-16	1	1	0	A	21304957	C	A	21304957	3	1	86	1	0	0	0	0	1	0	0	0	7540	595	21	5	274	5	IFNA5	9	21304957	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	8166877	21304957	119908474	45	3713											
TAF1L	138474	broad.mit.edu	37	chr9	32634394	32634394	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcattctagattttatcAcaggttcatgttgtgtcttt	8	19	6	8	0	5	1	3	0	2	1	5	1	5	1	1	1	0	2	1	1	2	7			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr9:32634394A>G	uc003zrg.1	-	0	1274	c.1184T>C	c.(1183-1185)gTg>gCg	p.V395A	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	395					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGATTTTATCACAGGTTCATG	0.458													42	223					0	0	1	0	0	G	32634394	A	G	32634394	3	3	86	1	0	0	0	0	1	0	0	0	15520	159	6	3	4300	3	TAF1L	9	32634394	Missense_Mutation	SNP	A	TCGA-DU-7010-01A-11D-2024-08	11329437	32634394	108579037	46	3714											
NUP188	23511	broad.mit.edu	37	chr9	131745580	131745580	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccaaccaggttaacgaCagtgatctccccacctgtgg	9	10	8	14	1	2	1	0	1	2	0	4	2	2	1	5	2	2	1	5	2	2	2			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr9:131745580C>T	uc004bws.1	+	17	1827	c.1805C>T	c.(1804-1806)aCa>aTa	p.T602I	NUP188_uc004bwu.3_5'Flank	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	602					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.T601T(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						AGGTTAACGACAGTGATCTCC	0.448													19	136					0	0	1	0	0	T	131745580	C	T	131745580	3	4	86	1	0	0	0	0	1	0	0	0	10758	478	17	3	1875	3	NUP188	9	131745580	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	99111186	131745580	9467851	47	3715											
USP20	10868	broad.mit.edu	37	chr9	132631651	132631651	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaccgcagcgtcatctcaGacatctttgacggctccatt	8	11	8	14	3	3	2	2	1	2	1	5	2	4	2	2	1	2	3	2	1	1	3			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr9:132631651G>T	uc004bys.2	+	12	1550	c.1339G>T	c.(1339-1341)Gac>Tac	p.D447Y	USP20_uc004byr.2_Missense_Mutation_p.D447Y|USP20_uc004byt.1_Missense_Mutation_p.D447Y	NM_001110303	NP_006667	Q9Y2K6	UBP20_HUMAN	Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA.	447					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CGTCATCTCAGACATCTTTGA	0.652													45	134					3.05275e-18	3.57744e-18	1	1	0	T	132631651	G	T	132631651	3	4	86	1	0	0	0	0	1	0	0	0	17049	942	33	5	1381	5	USP20	9	132631651	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	886071	132631651	8581780	48	3716											
ANKRD26	22852	broad.mit.edu	37	chr10	27322258	27322258	+	Frame_Shift_Del	DEL	G	G	-																															tgaagcctctgacatagattGtttttttagggtatcagcta																										TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr10:27322258delG	uc009xku.1	-	24	3875	c.3703delC	c.(3703-3705)caafs	p.Q1235fs	ANKRD26_uc001itg.2_Frame_Shift_Del_p.Q921fs|ANKRD26_uc001ith.2_Frame_Shift_Del_p.Q1234fs	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	1234						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GACATAGATTGTTTTTTTAGG	0.318													12	75	---	---	---	---						-	27322258	G	-	27322258	7	5	86	1	0	1	0	1	0	0	0	0	654	1386	48	0	1469	0	ANKRD26	10	27322258	Frame_Shift_Del	DEL	G	TCGA-DU-7010-01A-11D-2024-08		27322258	108212489	49	3717											
PLAU	5328	broad.mit.edu	37	chr10	75675025	75675025	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctagccgactatctctatccGgagcagctgaaaatgactgt	11	10	9	11	2	1	2	0	2	1	0	3	4	2	3	2	1	3	2	2	1	5	3			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr10:75675025G>A	uc001jwa.3	+	9	1133	c.987G>A	c.(985-987)ccG>ccA	p.P329P	C10orf55_uc001jvz.2_Intron|PLAU_uc010qkw.2_Silent_p.P312P|PLAU_uc010qkx.2_Silent_p.P243P|PLAU_uc001jwb.3_Non-coding_Transcript|PLAU_uc001jwc.3_Silent_p.P329P|PLAU_uc009xrq.1_Silent_p.P293P	NM_002658	NP_002649	P00749	UROK_HUMAN	Homo sapiens plasminogen activator, urokinase (PLAU), transcript variant 1, mRNA.	329	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	ATCTCTATCCGGAGCAGCTGA	0.512													21	87					0	0	1	0	0	A	75675025	G	A	75675025	2	1	86	1	0	0	0	0	0	0	0	1	12022	1103	39	2		2	PLAU	10	75675025	Silent	SNP	G	TCGA-DU-7010-01A-11D-2024-08	48352767	75675025	59859722	50	3718											
GPAM	57678	broad.mit.edu	37	chr10	113919721	113919721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacaggctggccgccttcCgcaccagctgctcctggctg	5	7	12	17	2	0	0	0	0	0	0	2	0	2	0	5	3	3	6	5	3	0	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr10:113919721C>T	uc009xxy.2	-	16	2060	c.1850G>A	c.(1849-1851)cGg>cAg	p.R617Q	GPAM_uc001kzp.3_Missense_Mutation_p.R617Q|GPAM_uc001kzq.1_Missense_Mutation_p.R617Q	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase, mitochondrial (GPAM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	617					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		GGCCGCCTTCCGCACCAGCTG	0.547													8	37					0	0	1	0	0	T	113919721	C	T	113919721	3	4	86	1	0	0	0	0	1	0	0	0	6588	652	23	2	660	2	GPAM	10	113919721	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	38244696	113919721	21615026	51	3719											
INPP5F	22876	broad.mit.edu	37	chr10	121551479	121551479	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttttattatagcttgacCtatgacctgaccaattccgt	9	16	5	11	1	0	3	0	3	0	0	2	3	2	3	5	0	1	1	5	0	5	7			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr10:121551479C>G	uc001leo.3	+	4	759	c.543C>G	c.(541-543)acC>acG	p.T181T	INPP5F_uc001len.4_Silent_p.T181T	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase F (INPP5F), transcript variant 1, mRNA.	181	SAC.						phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		ATAGCTTGACCTATGACCTGA	0.493													5	87					0	0	1	0	0	G	121551479	C	G	121551479	2	3	86	1	0	0	0	0	0	0	0	1	7758	668	24	5		5	INPP5F	10	121551479	Silent	SNP	C	TCGA-DU-7010-01A-11D-2024-08	7631758	121551479	13983268	52	3720											
DMBT1	1755	broad.mit.edu	37	chr10	124357525	124357525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaccttgcctgcatcgacaGtaggtaaatattcctctcgc	9	12	7	13	2	2	0	1	0	1	0	5	1	3	0	3	1	2	3	3	1	4	5			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr10:124357525G>A	uc001lgk.1	+	24	3059	c.2953G>A	c.(2953-2955)Gta>Ata	p.V985I	DMBT1_uc001lgl.1_Missense_Mutation_p.V975I|DMBT1_uc001lgm.1_Missense_Mutation_p.V486I|DMBT1_uc021qaf.1_Missense_Mutation_p.V985I|DMBT1_uc021qag.1_Missense_Mutation_p.V975I|DMBT1_uc021qah.1_Missense_Mutation_p.V486I|DMBT1_uc009xzz.1_Missense_Mutation_p.V985I|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	985					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGCATCGACAGTAGGTAAATA	0.463													19	63					0	0	1	0	0	A	124357525	G	A	124357525	3	1	86	1	0	0	0	0	1	0	0	0	4577	1029	36	3	3051	3	DMBT1	10	124357525	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	2806046	124357525	11177222	53	3721											
OR2AG2	338755	broad.mit.edu	37	chr11	6789861	6789861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccagtaggaggtcctcagCgctacccattgtcagtgcca	8	8	12	13	1	2	0	2	0	0	0	3	1	3	1	4	3	3	2	4	3	2	3	rs146279135	byFrequency	TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr11:6789861C>T	uc001meq.1	-	0	328	c.328G>A	c.(328-330)Gct>Act	p.A110T		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AG, member 2 (OR2AG2), mRNA.	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S109S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGGTCCTCAGCGCTACCCATT	0.522													16	27					0	0	1	0	0	T	6789861	C	T	6789861	3	4	86	1	0	0	0	0	1	0	0	0	10985	768	27	1	626	1	OR2AG2	11	6789861	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08		6789861	128216655	54	3722											
GYLTL1B	120071	broad.mit.edu	37	chr11	45950277	45950277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccgctccagccccacctatCgtgactgcctccaggccctc	5	8	7	21	2	0	1	0	1	0	0	5	1	3	1	8	1	2	1	8	1	1	1	rs148029391	byFrequency	TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr11:45950277C>T	uc001nbv.1	+	13	2158	c.2047C>T	c.(2047-2049)Cgt>Tgt	p.R683C	GYLTL1B_uc001nbw.1_Missense_Mutation_p.R652C|GYLTL1B_uc001nbx.1_Missense_Mutation_p.R683C	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	Homo sapiens glycosyltransferase-like 1B (GYLTL1B), mRNA.	683					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CCCCACCTATCGTGACTGCCT	0.637													4	55					0	0	1	0	0	T	45950277	C	T	45950277	3	4	86	1	0	0	0	0	1	0	0	0	6907	884	31	2	2097	2	GYLTL1B	11	45950277	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	39160416	45950277	89056239	55	3723											
OR5M3	219482	broad.mit.edu	37	chr11	56237501	56237501	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaagccgtaagtccataatGttgctgccagactcgtcaga	12	9	9	11	2	1	2	1	0	0	2	3	2	2	2	3	0	3	3	3	0	3	3			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr11:56237501G>T	uc010rjk.2	-	0	514	c.473C>A	c.(472-474)aCa>aAa	p.T158K	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T158A(1)|p.T158P(1)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AGTCCATAATGTTGCTGCCAG	0.428													28	91					4.87955e-14	5.58728e-14	1	1	0	T	56237501	G	T	56237501	3	4	86	1	0	0	0	0	1	0	0	0	11175	1377	48	5	452	5	OR5M3	11	56237501	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	10287224	56237501	78769015	56	3724											
GANAB	23193	broad.mit.edu	37	chr11	62400106	62400106	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagaagatgcccaagtcGcgatgagggttgtgtgccag	10	7	15	9	2	0	3	0	1	0	2	1	4	0	3	3	1	3	1	3	1	2	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr11:62400106G>A	uc001nua.3	-	9	1026	c.993C>T	c.(991-993)cgC>cgT	p.R331R	GANAB_uc001nub.3_Silent_p.R309R|GANAB_uc001nuc.3_Silent_p.R212R|GANAB_uc010rma.2_Silent_p.R217R|GANAB_uc010rmb.2_Silent_p.R195R	NM_198335	NP_938149	Q14697	GANAB_HUMAN	Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.	309					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	Golgi apparatus|endoplasmic reticulum lumen|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TGCCCAAGTCGCGATGAGGGT	0.532													47	132					0	0	1	0	0	A	62400106	G	A	62400106	2	1	86	1	0	0	0	0	0	0	0	1	6233	1074	38	1		1	GANAB	11	62400106	Silent	SNP	G	TCGA-DU-7010-01A-11D-2024-08	6162605	62400106	72606410	57	3725											
OR6M1	390261	broad.mit.edu	37	chr11	123676272	123676272	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcataatccagtgaggaGttctgattgggtctcacata	10	14	10	7	0	3	2	2	2	2	0	5	3	4	3	1	2	0	1	1	2	2	5			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr11:123676272G>A	uc010rzz.2	-	0	786	c.786C>T	c.(784-786)aaC>aaT	p.N262N		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CCAGTGAGGAGTTCTGATTGG	0.498													11	34					0	0	1	0	0	A	123676272	G	A	123676272	2	1	86	1	0	0	0	0	0	0	0	1	11205	1020	36	3		3	OR6M1	11	123676272	Silent	SNP	G	TCGA-DU-7010-01A-11D-2024-08	61276166	123676272	11330244	58	3726											
KLRF1	51348	broad.mit.edu	37	chr12	9995006	9995006	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgacatggacttgggtGgatggttctccaatagattc	12	12	11	6	0	1	2	0	1	1	1	3	4	1	4	1	4	0	1	1	4	4	4			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr12:9995006G>A	uc021qux.1	+	4	628	c.564G>A	c.(562-564)gtG>gtA	p.V188V	KLRF1_uc001qwm.3_Non-coding_Transcript|KLRF1_uc009zgy.3_Non-coding_Transcript|KLRF1_uc009zgz.3_Intron|KLRF1_uc009zha.3_Intron|KLRF1_uc009zgw.3_Silent_p.V138V|KLRF1_uc009zgx.3_Non-coding_Transcript	NM_016523	NP_057607	Q9NZS2	KLRF1_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily F, member 1 (KLRF1), mRNA.	188	C-type lectin.				cell surface receptor linked signaling pathway	integral to plasma membrane	MHC class I receptor activity|sugar binding			breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						GGACTTGGGTGGATGGTTCTC	0.358													11	66					0	0	1	0	0	A	9995006	G	A	9995006	2	1	86	1	0	0	0	0	0	0	0	1	8420	1335	47	3		3	KLRF1	12	9995006	Silent	SNP	G	TCGA-DU-7010-01A-11D-2024-08		9995006	123856889	59	3727											
CUX2	23316	broad.mit.edu	37	chr12	111748299	111748299	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgctgaaacacaacatCgggcagcgggtgtttgggca	10	7	14	10	2	0	1	0	1	0	0	1	1	0	1	0	3	5	5	0	3	2	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr12:111748299C>A	uc001tsa.2	+	14	1867	c.1713C>A	c.(1711-1713)atC>atA	p.I571I		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	571						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AACACAACATCGGGCAGCGGG	0.677													27	58					1.68575e-08	1.84572e-08	1	1	0	A	111748299	C	A	111748299	2	1	86	1	0	0	0	0	0	0	0	1	4065	874	31	5		5	CUX2	12	111748299	Silent	SNP	C	TCGA-DU-7010-01A-11D-2024-08	101753293	111748299	22103596	60	3728											
MAPKAPK5	8550	broad.mit.edu	37	chr12	112321472	112321472	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaaacaccacagccggactAtcccaaaggatatgcgaaga	16	4	8	13	2	0	1	0	0	0	1	1	4	1	3	4	2	3	0	4	2	5	2			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr12:112321472A>G	uc001tta.3	+	8	1007	c.748A>G	c.(748-750)Atc>Gtc	p.I250V	MAPKAPK5_uc001tsz.3_Missense_Mutation_p.I250V	NM_139078	NP_620777	Q8IW41	MAPK5_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 5 (MAPKAPK5), transcript variant 2, mRNA.	250	Protein kinase.				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			endometrium(1)|lung(11)|ovary(1)	13						CAGCCGGACTATCCCAAAGGA	0.468													26	128					0	0	1	0	0	G	112321472	A	G	112321472	3	3	86	1	0	0	0	0	1	0	0	0	9291	449	16	3	782	3	MAPKAPK5	12	112321472	Missense_Mutation	SNP	A	TCGA-DU-7010-01A-11D-2024-08	573173	112321472	21530423	61	3729											
TRIM13	10206	broad.mit.edu	37	chr13	50586329	50586329	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggaaaagtataacaagAtcaagatctctcccaaaatg	17	10	7	7	0	2	2	1	0	1	2	4	3	3	3	1	1	1	1	1	1	8	3			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr13:50586329A>G	uc001vdp.1	+	3	680	c.262A>G	c.(262-264)Atc>Gtc	p.I88V	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|TRIM13_uc001vdq.1_Missense_Mutation_p.I85V|TRIM13_uc001vdr.1_Missense_Mutation_p.I85V|TRIM13_uc001vds.1_Missense_Mutation_p.I85V|TRIM13_uc021rjq.1_Missense_Mutation_p.I85V	NM_001007278	NP_998755	O60858	TRI13_HUMAN	Homo sapiens tripartite motif containing 13 (TRIM13), transcript variant 4, mRNA.	85					ER-associated protein catabolic process|anatomical structure morphogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		GTATAACAAGATCAAGATCTC	0.438													53	28					0	0	1	0	0	G	50586329	A	G	50586329	3	3	86	1	0	0	0	0	1	0	0	0	16485	333	12	3	268	3	TRIM13	13	50586329	Missense_Mutation	SNP	A	TCGA-DU-7010-01A-11D-2024-08		50586329	64583549	62	3730											
CDH24	64403	broad.mit.edu	37	chr14	23523984	23523984	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtccacagagaagaaaggCagtccatccagaacagtgta	15	5	12	9	0	0	3	0	0	0	3	3	4	3	3	3	2	1	2	3	2	4	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr14:23523984C>T	uc001wil.3	-	3	848	c.588G>A	c.(586-588)ctG>ctA	p.L196L	CDH24_uc010akf.3_Silent_p.L196L|CDH24_uc001win.3_Silent_p.L196L	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.	196	Cadherin 2.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		AGAAGAAAGGCAGTCCATCCA	0.597											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	24					0	0	1	0	0	T	23523984	C	T	23523984	2	4	86	1	0	0	0	0	0	0	0	1	3109	697	25	3		3	CDH24	14	23523984	Silent	SNP	C	TCGA-DU-7010-01A-11D-2024-08		23523984	83825556	63	3731											
NFATC4	4776	broad.mit.edu	37	chr14	24839464	24839464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccccagctctgtcccgccGtggcagcctgggggaagagg	5	6	15	15	2	1	1	0	0	1	1	3	2	3	2	5	4	2	2	5	4	1	0			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr14:24839464G>A	uc001wpc.3	+	1	1181	c.860G>A	c.(859-861)cGt>cAt	p.R287H	NFATC4_uc010alr.3_Missense_Mutation_p.R350H|NFATC4_uc010tok.2_Missense_Mutation_p.R350H|NFATC4_uc010tol.2_Missense_Mutation_p.R350H|NFATC4_uc010als.2_Missense_Mutation_p.R300H|NFATC4_uc010too.2_Missense_Mutation_p.R300H|NFATC4_uc010tom.2_Missense_Mutation_p.R300H|NFATC4_uc010ton.2_Missense_Mutation_p.R300H|NFATC4_uc010toq.2_Missense_Mutation_p.R319H|NFATC4_uc010alt.3_Missense_Mutation_p.R319H|NFATC4_uc010top.2_Missense_Mutation_p.R319H|NFATC4_uc010alu.3_Intron|NFATC4_uc010tor.2_Missense_Mutation_p.R287H|NFATC4_uc010tos.2_Missense_Mutation_p.R217H|NFATC4_uc010tot.2_Missense_Mutation_p.R275H|NFATC4_uc010tou.2_Missense_Mutation_p.R217H|NFATC4_uc010tov.2_Missense_Mutation_p.R275H|NFATC4_uc010tow.2_Missense_Mutation_p.R217H|NFATC4_uc010alv.3_Missense_Mutation_p.R275H|NFATC4_uc010tox.2_Missense_Mutation_p.R217H|NFATC4_uc001wpd.3_5'Flank|NFATC4_uc010toy.2_5'Flank|NFATC4_uc010toz.2_5'Flank	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	287	2 approximate SP repeats.|Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R287S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CTGTCCCGCCGTGGCAGCCTG	0.706													18	19					0	0	1	0	0	A	24839464	G	A	24839464	3	1	86	1	0	0	0	0	1	0	0	0	10365	1145	40	1	1059	1	NFATC4	14	24839464	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	1315480	24839464	82510076	64	3732											
NKX2-8	26257	broad.mit.edu	37	chr14	37051529	37051529	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccgcctcggcaggtgttgCgcgtcctgctcgggtaaatc	4	10	13	14	5	0	0	0	0	0	0	5	0	2	0	3	3	2	4	3	3	2	2			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr14:37051529C>T	uc001wtx.3	-	0	258	c.66G>A	c.(64-66)gcG>gcA	p.A22A		NM_014360	NP_055175	O15522	NKX28_HUMAN	Homo sapiens NK2 homeobox 8 (NKX2-8), mRNA.	22					liver development|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)		GCAGGTGTTGCGCGTCCTGCT	0.701													3	17					0	0	1	0	0	T	37051529	C	T	37051529	2	4	86	1	0	0	0	0	0	0	0	1	10454	755	27	1		1	NKX2-8	14	37051529	Silent	SNP	C	TCGA-DU-7010-01A-11D-2024-08	12212065	37051529	70298011	65	3733											
ACOT4	122970	broad.mit.edu	37	chr14	74060453	74060453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acatctttggtattggagggGgcctcttggaatatcgagcc	8	12	13	8	1	2	0	0	0	2	0	3	3	2	2	2	5	1	1	2	5	3	5			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr14:74060453G>A	uc001xoo.3	+	1	759	c.505G>A	c.(505-507)Ggc>Agc	p.G169S		NM_152331	NP_689544	Q8N9L9	ACOT4_HUMAN	Homo sapiens acyl-CoA thioesterase 4 (ACOT4), mRNA.	169					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		TATTGGAGGGGGCCTCTTGGA	0.428													21	59					0	0	1	0	0	A	74060453	G	A	74060453	3	1	86	1	0	0	0	0	1	0	0	0	153	1232	43	3	511	3	ACOT4	14	74060453	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	37008924	74060453	33289087	66	3734											
AHNAK2	113146	broad.mit.edu	37	chr14	105408008	105408008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctggacatccgtctccaCgctgggcagagacacctcca	8	6	11	16	2	1	1	0	0	1	1	4	3	3	2	5	3	0	2	5	3	0	0			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr14:105408008C>T	uc010axc.1	-	6	13900	c.13780G>A	c.(13780-13782)Gtg>Atg	p.V4594M	AHNAK2_uc021sen.1_5'UTR|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.V4494M	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4594						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCGTCTCCACGCTGGGCAGA	0.642													33	86					0	0	1	0	0	T	105408008	C	T	105408008	3	4	86	1	0	0	0	0	1	0	0	0	415	536	19	1	3611	1	AHNAK2	14	105408008	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	31347555	105408008	1941532	67	3735											
C15orf2	23742	broad.mit.edu	37	chr15	24924470	24924470	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatgttaggagacatgtctgTttccaacttccgtaagagca	11	13	9	8	1	1	2	0	0	1	2	3	3	3	2	2	1	2	4	2	1	4	5			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr15:24924470T>A	uc001ywo.3	+	0	3930	c.3456T>A	c.(3454-3456)tgT>tgA	p.C1152*		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	1152					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GACATGTCTGTTTCCAACTTC	0.428													16	77					0	0	1	0	0	A	24924470	T	A	24924470	4	1	86	1	0	0	0	0	0	1	0	0	1784	1731	60	5	3458	5	C15orf2	15	24924470	Nonsense_Mutation	SNP	T	TCGA-DU-7010-01A-11D-2024-08		24924470	77606922	68	3736											
TJP1	7082	broad.mit.edu	37	chr15	30058630	30058630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgttaaccacaccactcCggccacttcttggatcatgt	8	13	6	14	1	3	0	1	0	2	0	4	1	4	1	4	2	1	1	4	2	1	4			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr15:30058630C>T	uc001zcr.3	-	4	903	c.428G>A	c.(427-429)cGg>cAg	p.R143Q	TJP1_uc010azl.3_Missense_Mutation_p.R131Q|TJP1_uc001zcq.3_Missense_Mutation_p.R147Q|TJP1_uc001zcs.3_Missense_Mutation_p.R143Q	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	143					cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CACACCACTCCGGCCACTTCT	0.468													21	65					0	0	1	0	0	T	30058630	C	T	30058630	3	4	86	1	0	0	0	0	1	0	0	0	15926	652	23	2	4914	2	TJP1	15	30058630	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	5134160	30058630	72472762	69	3737											
DISP2	85455	broad.mit.edu	37	chr15	40656103	40656103	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctccagccccctcacagCgcgatgggacctggaagcca	8	6	10	17	2	2	0	1	0	1	0	3	3	2	2	5	2	3	0	5	2	1	1	rs150939222		TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr15:40656103C>A	uc001zlk.1	+	1	486	c.397C>A	c.(397-399)Cgc>Agc	p.R133S		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA.	133					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCCCTCACAGCGCGATGGGAC	0.657													6	45					0.0215528	0.0219926	1	1	0	A	40656103	C	A	40656103	3	1	86	1	0	0	0	0	1	0	0	0	4540	768	27	5	403	5	DISP2	15	40656103	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	10597473	40656103	61875289	70	3738											
ITPRIPL2	162073	broad.mit.edu	37	chr16	19126381	19126381	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggcgaggagccagcgctgGccccggccttccgcggctgc	3	5	17	16	5	0	0	0	0	0	0	1	2	1	1	5	5	3	2	5	5	0	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr16:19126381G>T	uc002dfu.4	+	0	1128	c.598G>T	c.(598-600)Gcc>Tcc	p.A200S	ITPRIPL2_uc002dft.3_5'UTR	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein-like 2 (ITPRIPL2), transcript variant 1, mRNA.	200						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GCCAGCGCTGGCCCCGGCCTT	0.706											OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	28					7.03913e-09	7.76374e-09	1	1	0	T	19126381	G	T	19126381	3	4	86	1	0	0	0	0	1	0	0	0	7925	1203	42	5	600	5	ITPRIPL2	16	19126381	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08		19126381	71228372	71	3739											
RBBP6	5930	broad.mit.edu	37	chr16	24581321	24581321	+	Frame_Shift_Del	DEL	C	C	-																															aagaacaccaagaaacaaaaCcagtcaaagaggaaaaagtg																										TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr16:24581321delC	uc002dmh.3	+	16	4350	c.3310delC	c.(3310-3312)ccafs	p.P1104fs	RBBP6_uc010vcb.1_Frame_Shift_Del_p.P971fs|RBBP6_uc002dmi.3_Frame_Shift_Del_p.P1070fs|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Frame_Shift_Del_p.P937fs	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1104	Interaction with RB1 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AGAAACAAAACCAGTCAAAGA	0.368													20	30	---	---	---	---						-	24581321	C	-	24581321	7	5	86	1	0	1	0	1	0	0	0	0	13103	507	18	0	3430	0	RBBP6	16	24581321	Frame_Shift_Del	DEL	C	TCGA-DU-7010-01A-11D-2024-08	5454940	24581321	65773432	72	3740											
SDR42E1	93517	broad.mit.edu	37	chr16	82034402	82034402	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atagatacacttaccgaaaaCcaaaatagccacttcctcct	16	9	3	13	1	0	1	0	0	0	1	2	2	2	1	5	0	4	0	5	0	8	5			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr16:82034402C>G	uc002fgu.3	-	1	190	c.62G>C	c.(61-63)gGt>gCt	p.G21A		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	21					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						TTACCGAAAACCAAAATAGCC	0.383													13	56					0	0	1	0	0	G	82034402	C	G	82034402	3	3	86	1	0	0	0	0	1	0	0	0	13973	507	18	5	1127	5	SDR42E1	16	82034402	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	57453081	82034402	8320351	73	3741											
TP53	7157	broad.mit.edu	37	chr17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctatctgagcagcgctcaTggtgggggcagcgcctcaca	7	7	14	13	3	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	1	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:7578394T>C	uc002gim.2	-	4	730	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_uc002gig.1_Missense_Mutation_p.H179R|TP53_uc002gih.3_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.2_Missense_Mutation_p.H140R	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(214)|p.H179Y(90)|p.H179L(78)|p.H179Q(19)|p.P177_C182delPHHERC(16)|p.H178fs*69(15)|p.H179N(14)|p.H179D(11)|p.H178Y(8)|p.0?(8)|p.C176_R181delCPHHER(6)|p.H179P(6)|p.H178fs*3(6)|p.H178P(6)|p.R175_E180delRCPHHE(6)|p.H178Q(5)|p.H178D(5)|p.H178_S183delHHERCS(4)|p.H47L(4)|p.H86L(4)|p.H179fs*68(3)|p.R174fs*24(3)|p.H178N(3)|p.P177_H179delPHH(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.H86R(2)|p.H178fs*6(2)|p.P177_E180delPHHE(2)|p.H47R(2)|p.R174fs*1(2)|p.H178H(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.H179fs*?(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.H179del(1)|p.H178L(1)|p.R175_H178>X(1)|p.P177_C182del(1)|p.R81fs*24(1)|p.H178del(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(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)		GCAGCGCTCATGGTGGGGGCA	0.642		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)			35	8					0	0	1	0	0	C	7578394	T	C	7578394	3	2	86	1	0	0	0	0	1	0	0	0	16378	1464	51	3	762	3	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-DU-7010-01A-11D-2024-08		7578394	73616816	74	3742											
MFSD6L	162387	broad.mit.edu	37	chr17	8701438	8701438	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggcaatgctcaccagtaagGccagggtgctgaccaccgag	11	5	13	12	1	1	1	1	1	0	0	1	2	1	1	4	3	2	4	4	3	2	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:8701438G>T	uc002glp.2	-	0	1230	c.1001C>A	c.(1000-1002)gCc>gAc	p.A334D		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	Homo sapiens major facilitator superfamily domain containing 6-like (MFSD6L), mRNA.	334						integral to membrane		p.A334V(2)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						CACCAGTAAGGCCAGGGTGCT	0.597													5	35					0.014758	0.0151623	1	1	0	T	8701438	G	T	8701438	3	4	86	1	0	0	0	0	1	0	0	0	9536	1203	42	5	763	5	MFSD6L	17	8701438	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	1123044	8701438	72493772	75	3743											
WFIKKN2	124857	broad.mit.edu	37	chr17	48917362	48917362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtggtgggccggccccGgcctgagatcacctgggaga	6	7	17	11	2	1	3	1	2	0	2	1	5	1	3	5	5	0	0	5	5	0	0			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:48917362G>A	uc002isv.4	+	1	1407	c.713G>A	c.(712-714)cGg>cAg	p.R238Q	WFIKKN2_uc010dbu.3_Missense_Mutation_p.R145Q	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 (WFIKKN2), mRNA.	238	Ig-like C2-type.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GGCCGGCCCCGGCCTGAGATC	0.622													7	41					0	0	1	0	0	A	48917362	G	A	48917362	3	1	86	1	0	0	0	0	1	0	0	0	17356	1116	39	2	719	2	WFIKKN2	17	48917362	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	40215924	48917362	32277848	76	3744											
HSF5	124535	broad.mit.edu	37	chr17	56540259	56540259	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggatggctgcagattcctGtattgtgctattttcaacag	8	15	10	8	0	1	1	1	0	0	1	2	2	2	2	1	2	3	4	1	2	3	6			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:56540259G>C	uc002iwi.1	-	3	1550	c.1426C>G	c.(1426-1428)Cag>Gag	p.Q476E		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	Homo sapiens heat shock transcription factor family member 5 (HSF5), mRNA.	476						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCAGATTCCTGTATTGTGCTA	0.468													85	75					0	0	1	0	0	C	56540259	G	C	56540259	3	2	86	1	0	0	0	0	1	0	0	0	7399	1386	48	5	376	5	HSF5	17	56540259	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	7622897	56540259	24654951	77	3745											
CSH1	1442	broad.mit.edu	37	chr17	61972426	61972426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagcggcactgcaccatgcGcaggaatgtctcgaccttgt	9	8	12	12	3	1	1	0	0	1	1	2	3	1	2	2	2	3	3	2	2	1	1	rs139446025	byFrequency	TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:61972426G>A	uc002jcs.2	-	4	760	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C		NM_001317	NP_001308	P01243	CSH_HUMAN	Homo sapiens chorionic somatomammotropin hormone 1 (placental lactogen) (CSH1), mRNA.	204					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TGCACCATGCGCAGGAATGTC	0.582									Russell-Silver syndrome				18	112					0	0	1	0	0	A	61972426	G	A	61972426	3	1	86	1	0	0	0	0	1	0	0	0	3940	1087	38	1	47	1	CSH1	17	61972426	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	5432167	61972426	19222784	78	3746											
EVPL	2125	broad.mit.edu	37	chr17	74003589	74003589	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgccggtgaaggccttctgGgcgttaagcagcctctgtgt	6	11	14	10	2	2	1	0	1	2	0	2	1	2	1	3	3	3	2	3	3	2	2			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:74003589G>T	uc010wss.1	-	21	5991	c.5763C>A	c.(5761-5763)gcC>gcA	p.A1921A	EVPL_uc002jqi.2_Silent_p.A1899A|EVPL_uc010wst.1_Silent_p.A1369A	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1899	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGGCCTTCTGGGCGTTAAGCA	0.652													15	108					2.32078e-09	2.57865e-09	1	1	0	T	74003589	G	T	74003589	2	4	86	1	0	0	0	0	0	0	0	1	5292	1219	43	5		5	EVPL	17	74003589	Silent	SNP	G	TCGA-DU-7010-01A-11D-2024-08	12031163	74003589	7191621	79	3747											
JMJD6	23210	broad.mit.edu	37	chr17	74716489	74716489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctggaggagctggaagagtCgctggagctgtcggaagcta	9	7	18	7	2	0	1	0	0	0	1	2	6	0	6	0	5	3	5	0	5	3	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:74716489C>T	uc002jso.3	-	4	1357	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N	JMJD6_uc002jsn.1_Missense_Mutation_p.D345N	NM_015167	NP_055982	Q6NYC1	JMJD6_HUMAN	Homo sapiens jumonji domain containing 6 (JMJD6), transcript variant 2, mRNA.	345	Ser-rich.				RNA splicing|mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						CTGGAAGAGTCGCTGGAGCTG	0.582													10	75					0	0	1	0	0	T	74716489	C	T	74716489	3	4	86	1	0	0	0	0	1	0	0	0	7953	884	31	2	227	2	JMJD6	17	74716489	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	712900	74716489	6478721	80	3748											
RIOK3	8780	broad.mit.edu	37	chr18	21047458	21047458	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtattagtacaggaaaGgagtctgttgtctttcatgc	9	14	12	6	0	3	0	1	0	2	0	3	2	3	2	0	3	2	4	0	3	4	5			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr18:21047458G>T	uc002kui.4	+	6	1400	c.783G>T	c.(781-783)aaG>aaT	p.K261N	RIOK3_uc010dls.3_Missense_Mutation_p.K261N|RIOK3_uc010xas.2_Missense_Mutation_p.K245N|RIOK3_uc010xat.2_Missense_Mutation_p.R53M	NM_003831	NP_003822	O14730	RIOK3_HUMAN	Homo sapiens RIO kinase 3 (yeast) (RIOK3), mRNA.	261	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GTACAGGAAAGGAGTCTGTTG	0.368													9	77					4.68919e-08	5.09694e-08	1	1	0	T	21047458	G	T	21047458	3	4	86	1	0	0	0	0	1	0	0	0	13379	991	35	5	809	5	RIOK3	18	21047458	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08		21047458	57029790	81	3749											
HRH4	59340	broad.mit.edu	37	chr18	22056724	22056724	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctaggtgtcttatagaaCtcaacatactggggtcttga	10	14	9	8	0	4	2	1	1	3	1	4	2	4	2	0	3	3	0	0	3	6	6			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr18:22056724C>G	uc002kvi.3	+	2	471	c.371C>G	c.(370-372)aCt>aGt	p.T124S	HRH4_uc010xbd.2_3'UTR|HRH4_uc010dlx.3_Intron	NM_021624	NP_067637	Q9H3N8	HRH4_HUMAN	Homo sapiens histamine receptor H4 (HRH4), transcript variant 1, mRNA.	124						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	TCTTATAGAACTCAACATACT	0.378													12	95					0	0	1	0	0	G	22056724	C	G	22056724	3	3	86	1	0	0	0	0	1	0	0	0	7358	565	20	5	381	5	HRH4	18	22056724	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	1009266	22056724	56020524	82	3750											
GALNT1	2589	broad.mit.edu	37	chr18	33257583	33257583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaaggtgtatccagataatCttcctacaacaagtgtggtg	13	11	9	8	0	1	1	0	0	1	1	3	1	3	1	2	2	2	1	2	2	6	4			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr18:33257583C>T	uc010dmu.3	+	3	396	c.343C>T	c.(343-345)Ctt>Ttt	p.L115F	GALNT1_uc002kyz.4_Missense_Mutation_p.L55F|GALNT1_uc002kzb.3_Missense_Mutation_p.L115F	NM_020474	NP_065207	Q10472	GALT1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) (GALNT1), mRNA.	115	Catalytic subdomain A.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|extracellular region|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TCCAGATAATCTTCCTACAAC	0.388													15	110					0	0	1	0	0	T	33257583	C	T	33257583	3	4	86	1	0	0	0	0	1	0	0	0	6207	913	32	3	353	3	GALNT1	18	33257583	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	11200859	33257583	44819665	83	3751											
ABCA7	10347	broad.mit.edu	37	chr19	1042063	1042063	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgccctctctctgtccccagGgtctcccggctgctagccga	3	10	10	18	2	3	0	0	0	3	0	6	1	4	0	5	2	3	2	5	2	1	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:1042063G>A	uc002lqw.4	+	5	534	c.303_splice	c.e5-1	p.L101_splice	ABCA7_uc010dsb.1_5'Flank|ABCA7_uc010dsa.3_Splice_Site_p.L101_splice	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	101					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		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)		CTGTCCCCAGGGTCTCCCGGC	0.711													3	11					0	0	1	0	0	A	1042063	G	A	1042063	5	1	86	1	0	0	0	0	0	0	1	0	37	1246	43	3	317	3	ABCA7	19	1042063	Splice_Site	SNP	G	TCGA-DU-7010-01A-11D-2024-08		1042063	58086920	84	3752											
OR7G3	390883	broad.mit.edu	37	chr19	9237223	9237223	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagagtttggggttcatgAtgacattgtacctcagtggg	9	12	13	7	0	2	3	2	2	0	1	2	3	2	3	1	3	1	3	1	3	1	4			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:9237223A>T	uc010xkl.2	-	0	404	c.404T>A	c.(403-405)aTc>aAc	p.I135N		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA.	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GGGGTTCATGATGACATTGTA	0.488													18	79					0	0	1	0	0	T	9237223	A	T	9237223	3	4	86	1	0	0	0	0	1	0	0	0	11224	333	12	5	537	5	OR7G3	19	9237223	Missense_Mutation	SNP	A	TCGA-DU-7010-01A-11D-2024-08	8195160	9237223	49891760	85	3753											
KLF1	10661	broad.mit.edu	37	chr19	12996674	12996674	+	Frame_Shift_Del	DEL	C	C	-																															ctccgaacccaaaagcccagCcaccagccccgggccgccag																										TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:12996674delC	uc002mvo.3	-	1	433	c.370delG	c.(370-372)gctfs	p.A124fs		NM_006563	NP_006554	Q13351	KLF1_HUMAN	Homo sapiens Kruppel-like factor 1 (erythroid) (KLF1), mRNA.	124	Pro-rich.				erythrocyte differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|skin(1)	5		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		AAAAGCCCAGCCACCAGCCCC	0.746													2	4	---	---	---	---						-	12996674	C	-	12996674	7	5	86	1	0	1	0	1	0	0	0	0	8337	739	26	0	726	0	KLF1	19	12996674	Frame_Shift_Del	DEL	C	TCGA-DU-7010-01A-11D-2024-08	3759451	12996674	46132309	86	3754											
ZNF30	90075	broad.mit.edu	37	chr19	35434793	35434793	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccttgctaagcatcagaGaattcatactggcgagaaac	14	8	8	11	1	2	2	2	0	0	2	2	4	2	2	2	1	4	2	2	1	4	4			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:35434793G>T	uc010edq.1	+	4	1304	c.926G>T	c.(925-927)aGa>aTa	p.R309I	ZNF30_uc002nxf.2_Missense_Mutation_p.R227I|ZNF30_uc010edp.1_Missense_Mutation_p.R308I|ZNF30_uc010edr.1_Missense_Mutation_p.R309I	NM_001099437	NP_001092908	P17039	ZNF30_HUMAN	Homo sapiens zinc finger protein 30 (ZNF30), transcript variant 2, mRNA.	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		AAGCATCAGAGAATTCATACT	0.448													33	64					1.36161e-19	1.60821e-19	1	1	0	T	35434793	G	T	35434793	3	4	86	1	0	0	0	0	1	0	0	0	17827	942	33	5	940	5	ZNF30	19	35434793	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	22438119	35434793	23694190	87	3755											
SPTBN4	57731	broad.mit.edu	37	chr19	41066266	41066266	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcgacctgctctcctggAtggatggcatcgccagccag	6	8	12	15	3	1	0	0	0	1	0	4	3	2	2	5	3	2	2	5	3	0	0			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:41066266A>G	uc002ony.3	+	26	5958	c.5872A>G	c.(5872-5874)Atg>Gtg	p.M1958V	SPTBN4_uc002onx.3_Missense_Mutation_p.M1958V|SPTBN4_uc002onz.3_Missense_Mutation_p.M1958V|SPTBN4_uc010egx.3_Missense_Mutation_p.M701V|SPTBN4_uc002ooa.3_Missense_Mutation_p.M634V	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1958					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTCTCCTGGATGGATGGCAT	0.667													13	76					0	0	1	0	0	G	41066266	A	G	41066266	3	3	86	1	0	0	0	0	1	0	0	0	15120	333	12	3	5974	3	SPTBN4	19	41066266	Missense_Mutation	SNP	A	TCGA-DU-7010-01A-11D-2024-08	5631473	41066266	18062717	88	3756											
NKPD1	284353	broad.mit.edu	37	chr19	45655769	45655771	+	In_Frame_Del	DEL	CTG	CTG	-																															gtggggcccccaaagtccccCtgctgctgctgctgctgcag																										TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:45655769_45655771delCTG	uc010xxi.2	-	3	1924_1926	c.1924_1926delCAG	c.(1924-1926)cagdel	p.Q642del	NKPD1_uc021uvt.1_In_Frame_Del_p.Q420del	NM_198478	NP_940880			Homo sapiens NTPase, KAP family P-loop domain containing 1 (NKPD1), mRNA.											endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CAAAGTCCCCCTGCTGCTGCTGC	0.704													7	328	---	---	---	---						-	45655771	CTG	-	45655769	7	5	86	1	0	1	0	1	0	0	0	0	10446	680	24	0	576	0	NKPD1	19	45655769	In_Frame_Del	DEL	CTG	TCGA-DU-7010-01A-11D-2024-08	4589503	45655769	13473214	89	3757											
SULT2B1	6820	broad.mit.edu	37	chr19	49094919	49094919	+	Nonsense_Mutation	SNP	C	C	A																															gtggtctccctctatcattaCtccaagatcgccgggcagtt																										TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:49094919C>A	uc002pjl.3	+	3	558	c.477C>A	c.(475-477)taC>taA	p.Y159*	SULT2B1_uc002pjm.3_Nonsense_Mutation_p.Y144*	NM_177973	NP_814444	O00204	ST2B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2B, member 1 (SULT2B1), transcript variant 2, mRNA.	159					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		TCTATCATTACTCCAAGATCG	0.607													3	24					0.004672	0.0048331	1	1	0	A	49094919	C	A	49094919	4	1	86	1	0	0	0	0	0	1	0	0	15379	576	20	5	517	5	SULT2B1	19	49094919	Nonsense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	3439150	49094919	10034064	90	3758	17	2									
SULT2B1	6820	broad.mit.edu	37	chr19	49094920	49094920	+	Missense_Mutation	SNP	T	T	A																															tggtctccctctatcattacTccaagatcgccgggcagtta																										TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:49094920T>A	uc002pjl.3	+	3	559	c.478T>A	c.(478-480)Tcc>Acc	p.S160T	SULT2B1_uc002pjm.3_Missense_Mutation_p.S145T	NM_177973	NP_814444	O00204	ST2B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2B, member 1 (SULT2B1), transcript variant 2, mRNA.	160					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		CTATCATTACTCCAAGATCGC	0.612													3	23					0	0	1	0	0	A	49094920	T	A	49094920	3	1	86	1	0	0	0	0	1	0	0	0	15379	1551	54	5	518	5	SULT2B1	19	49094920	Missense_Mutation	SNP	T	TCGA-DU-7010-01A-11D-2024-08	1	49094920	10034063	91	3759	17	2									
SCAF1	58506	broad.mit.edu	37	chr19	50156700	50156700	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaggaggctggggtccgAggtggggcggaggaggagga	8	4	24	5	2	0	1	0	1	0	0	1	7	1	6	1	11	0	1	1	11	0	0			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:50156700A>C	uc002poq.3	+	6	3178	c.3054A>C	c.(3052-3054)cgA>cgC	p.R1018R		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	1018	Glu-rich.				RNA splicing|mRNA processing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CTGGGGTCCGAGGTGGGGCgg	0.657													182	6					0	0	1	0	0	C	50156700	A	C	50156700	2	2	86	1	0	0	0	0	0	0	0	1	13868	291	11	5		5	SCAF1	19	50156700	Silent	SNP	A	TCGA-DU-7010-01A-11D-2024-08	1061780	50156700	8972283	92	3760											
C19orf48	84798	broad.mit.edu	37	chr19	51301536	51301536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctagcctgcaggaagcccttGgtagcccacttatccacctt	8	10	8	15	0	0	0	0	0	0	0	1	1	1	1	5	2	4	2	5	2	4	5			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:51301536G>A	uc002ptf.3	-	4	1092	c.170C>T	c.(169-171)cCa>cTa	p.P57L	C19orf48_uc002pte.3_Non-coding_Transcript|C19orf48_uc002ptg.3_Missense_Mutation_p.P57L|C19orf48_uc021uyh.1_Missense_Mutation_p.P57L	NM_199249	NP_954858	Q6RUI8	CS048_HUMAN	Homo sapiens chromosome 19 open reading frame 48 (C19orf48), mRNA.	57										endometrium(1)|kidney(1)|lung(1)|ovary(1)	4		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)		GGAAGCCCTTGGTAGCCCACT	0.647													25	140					0	0	1	0	0	A	51301536	G	A	51301536	3	1	86	1	0	0	0	0	1	0	0	0	1931	1348	47	3	187	3	C19orf48	19	51301536	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	1144836	51301536	7827447	93	3761											
C19orf48	84798	broad.mit.edu	37	chr19	51301602	51301602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtccttgtgcactgggttGggtcccagcatgagcctggt	6	11	14	10	0	0	1	0	1	0	0	2	1	2	1	3	3	3	3	3	3	1	2			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:51301602G>A	uc002ptf.3	-	4	1026	c.104C>T	c.(103-105)cCa>cTa	p.P35L	C19orf48_uc002pte.3_Non-coding_Transcript|C19orf48_uc002ptg.3_Missense_Mutation_p.P35L|C19orf48_uc021uyh.1_Missense_Mutation_p.P35L	NM_199249	NP_954858	Q6RUI8	CS048_HUMAN	Homo sapiens chromosome 19 open reading frame 48 (C19orf48), mRNA.	35										endometrium(1)|kidney(1)|lung(1)|ovary(1)	4		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)		GCACTGGGTTGGGTCCCAGCA	0.642													25	134					0	0	1	0	0	A	51301602	G	A	51301602	3	1	86	1	0	0	0	0	1	0	0	0	1931	1348	47	3	253	3	C19orf48	19	51301602	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	66	51301602	7827381	94	3762											
PRPF31	26121	broad.mit.edu	37	chr19	54629912	54629912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgctccaggatctgcggCggaaagcggcccggctggtg	5	7	17	12	5	1	0	0	0	1	0	2	2	2	2	2	6	3	3	2	6	1	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:54629912C>T	uc002qdh.2	+	8	1261	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W	PRPF31_uc010yek.1_Missense_Mutation_p.R289W|PRPF31_uc021vbi.1_Missense_Mutation_p.R289W	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	Homo sapiens PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) (PRPF31), mRNA.	289	Nop.				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP|nuclear speck	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGATCTGCGGCGGAAAGCGGC	0.617													5	20					0	0	1	0	0	T	54629912	C	T	54629912	3	4	86	1	0	0	0	0	1	0	0	0	12566	759	27	1	895	1	PRPF31	19	54629912	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	3328310	54629912	4499071	95	3763											
PTPRH	5794	broad.mit.edu	37	chr19	55710148	55710148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttgggtcctggggtcaGtcatgccttccctgacccat	4	13	11	13	0	2	1	2	1	0	0	4	1	4	1	4	3	2	1	4	3	0	2			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:55710148G>A	uc002qjq.3	-	7	1626	c.1553C>T	c.(1552-1554)aCt>aTt	p.T518I	PTPRH_uc010esv.3_Missense_Mutation_p.T340I|PTPRH_uc002qjs.2_Missense_Mutation_p.T525I	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	518	Fibronectin type-III 6.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CCTGGGGTCAGTCATGCCTTC	0.592													10	30					0	0	1	0	0	A	55710148	G	A	55710148	3	1	86	1	0	0	0	0	1	0	0	0	12803	1029	36	3	1846	3	PTPRH	19	55710148	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	1080236	55710148	3418835	96	3764											
KRTAP19-1	337882	broad.mit.edu	37	chr21	31852569	31852569	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacatccacagccatagccaTagcccaggccaccgaagcct	12	4	7	18	1	0	0	0	0	0	0	1	1	1	0	7	1	4	0	7	1	3	2			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr21:31852569T>C	uc011acx.2	-	0	68	c.68A>G	c.(67-69)tAt>tGt	p.Y23C		NM_181607	NP_853638	Q8IUB9	KR191_HUMAN	Homo sapiens keratin associated protein 19-1 (KRTAP19-1), mRNA.	23	26 X 2 AA repeats of G-[YCGS].					intermediate filament				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GCCATAGCCATAGCCCAGGCC	0.572													7	140					0	0	1	0	0	C	31852569	T	C	31852569	3	2	86	1	0	0	0	0	1	0	0	0	8528	1406	49	3	206	3	KRTAP19-1	21	31852569	Missense_Mutation	SNP	T	TCGA-DU-7010-01A-11D-2024-08		31852569	16277326	97	3765											
ZNF295	49854	broad.mit.edu	37	chr21	43411516	43411516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctaggacccgcttctttggGggctgtgctggcctcgggtg	2	11	17	11	2	1	0	0	0	1	0	2	1	1	1	2	5	1	4	2	5	1	3			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr21:43411516G>A	uc021wjo.1	-	0	2689	c.2689C>T	c.(2689-2691)Ccc>Tcc	p.P897S	ZNF295_uc002yzz.4_Missense_Mutation_p.P696S|ZNF295_uc002zab.4_Missense_Mutation_p.P897S|ZNF295_uc002yzy.4_Missense_Mutation_p.P897S|ZNF295_uc002zaa.4_Missense_Mutation_p.P897S	NM_020727	NP_065778	Q9ULJ3	ZN295_HUMAN	Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA.	897					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methyl-CpG binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						GCTTCTTTGGGGGCTGTGCTG	0.562													5	68					0	0	1	0	0	A	43411516	G	A	43411516	3	1	86	1	0	0	0	0	1	0	0	0	17824	1232	43	3	515	3	ZNF295	21	43411516	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	11558947	43411516	4718379	98	3766											
BCL2L13	23786	broad.mit.edu	37	chr22	18185020	18185020	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattgaagattttggtgccTctggttttgctacgacaaat	9	15	10	7	1	1	2	0	1	1	1	1	3	1	2	1	2	3	3	1	2	3	6			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr22:18185020T>G	uc002zmw.3	+	5	686	c.468T>G	c.(466-468)ccT>ccG	p.P156P	BCL2L13_uc002zmu.3_Silent_p.P156P|BCL2L13_uc002zmx.3_5'UTR|BCL2L13_uc002zmy.3_Intron|BCL2L13_uc010gqy.3_5'UTR|BCL2L13_uc011agk.2_Silent_p.P32P|BCL2L13_uc010gqz.3_Intron|BCL2L13_uc002zmz.3_5'UTR	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	Homo sapiens BCL2-like 13 (apoptosis facilitator) (BCL2L13), nuclear gene encoding mitochondrial protein, mRNA.	156					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		TTTTGGTGCCTCTGGTTTTGC	0.363													11	90					0	0	1	0	0	G	18185020	T	G	18185020	2	3	86	1	0	0	0	0	0	0	0	1	1371	1538	54	5		5	BCL2L13	22	18185020	Silent	SNP	T	TCGA-DU-7010-01A-11D-2024-08		18185020	33119546	99	3767											
CYTH4	27128	broad.mit.edu	37	chr22	37696974	37696974	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtggagcttccggctgcCgggcgaggcccagaagatag	7	6	16	12	3	0	2	0	0	0	2	1	4	1	3	4	4	2	2	4	4	2	2			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr22:37696974C>T	uc003arf.3	+	6	577	c.461C>T	c.(460-462)cCg>cTg	p.P154L	CYTH4_uc003are.2_Missense_Mutation_p.P154L|CYTH4_uc011amw.2_Missense_Mutation_p.P97L	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	Homo sapiens cytohesin 4 (CYTH4), mRNA.	154	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						TTCCGGCTGCCGGGCGAGGCC	0.667													3	18					0	0	1	0	0	T	37696974	C	T	37696974	3	4	86	1	0	0	0	0	1	0	0	0	4206	652	23	2	487	2	CYTH4	22	37696974	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	19511954	37696974	13607592	100	3768											
CPT1B	1375	broad.mit.edu	37	chr22	51011381	51011381	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcggggtcataggagtaGgattcctcatccagggccac	8	10	12	11	1	3	0	2	0	1	0	6	2	5	2	3	5	0	1	3	5	2	4			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr22:51011381G>C	uc003bmm.3	-	10	1374	c.1275C>G	c.(1273-1275)tcC>tcG	p.S425S	CPT1B_uc003bmk.4_Silent_p.S425S|CPT1B_uc003bml.3_Silent_p.S425S|CPT1B_uc003bmo.3_Silent_p.S425S|CPT1B_uc011asa.2_Silent_p.S391S|CPT1B_uc003bmn.3_Silent_p.S425S|CPT1B_uc011asb.2_Intron|CPT1B_uc003bmp.3_Silent_p.S222S|CPT1B_uc021wsc.1_Non-coding_Transcript	NM_004377	NP_689452	Q92523	CPT1B_HUMAN	Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	425					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CATAGGAGTAGGATTCCTCAT	0.602													5	66					0	0	1	0	0	C	51011381	G	C	51011381	2	2	86	1	0	0	0	0	0	0	0	1	3832	987	35	5		5	CPT1B	22	51011381	Silent	SNP	G	TCGA-DU-7010-01A-11D-2024-08	13314407	51011381	293185	101	3769											
CRLF2	64109	broad.mit.edu	37	chrX	1321390	1321390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgaaaatctcacgtgcttcGgggaactgggtttcactgag	10	10	12	9	3	2	1	2	1	1	0	4	3	2	2	0	3	2	2	0	3	3	2			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:1321390G>A	uc004cpk.2	-	3	367	c.365C>T	c.(364-366)cCg>cTg	p.P122L	CRLF2_uc022brt.1_Missense_Mutation_p.P122L|CRLF2_uc004cpl.2_Missense_Mutation_p.P10L|CRLF2_uc022brs.1_Missense_Mutation_p.P122L	NM_022148	NP_071431	Q9HC73	CRLF2_HUMAN	Homo sapiens cytokine receptor-like factor 2 (CRLF2), transcript variant 1, mRNA.	122	Fibronectin type-III.					extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CACGTGCTTCGGGGAACTGGG	0.542			"Mis, T"	"P2RY8, IGH@"	"B-ALL, Downs associated ALL"								24	120					0	0	1	0	0	A	1321390	G	A	1321390	3	1	86	1	0	0	0	0	1	0	0	0	3887	1116	39	2	420	2	CRLF2	23	1321390	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08		1321390	153949170	102	3770											
CNKSR2	22866	broad.mit.edu	37	chrX	21627466	21627466	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagagcacaggcggcagtCtaccctgccaactcagaaat	12	5	9	15	1	2	2	1	0	1	2	2	2	2	2	3	2	4	2	3	2	3	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:21627466C>A	uc004czx.2	+	19	2903	c.2423C>A	c.(2422-2424)tCt>tAt	p.S808Y	CNKSR2_uc004czw.3_Missense_Mutation_p.S808Y|CNKSR2_uc011mjn.2_Missense_Mutation_p.S759Y|CNKSR2_uc011mjo.2_Missense_Mutation_p.S778Y|CNKSR2_uc004czy.3_Missense_Mutation_p.S400Y	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	808					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AGGCGGCAGTCTACCCTGCCA	0.547													27	66					4.59853e-10	5.14761e-10	1	1	0	A	21627466	C	A	21627466	3	1	86	1	0	0	0	0	1	0	0	0	3607	913	32	5	2501	5	CNKSR2	23	21627466	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	20306076	21627466	133643094	103	3771											
PDK3	5165	broad.mit.edu	37	chrX	24545692	24545692	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagatcttattattttagaActcaatgagagcgacagttg	15	13	8	5	1	2	3	1	1	1	3	2	5	2	3	0	0	2	1	0	0	6	5			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:24545692A>T	uc004dbg.3	+	8	980	c.751_splice	c.e8-1	p.N251_splice	PDK3_uc004dbh.3_Splice_Site_p.N251_splice	NM_005391	NP_005382	Q15120	PDK3_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 3 (PDK3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	251	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TTATTTTAGAACTCAATGAGA	0.363													4	19					0	0	1	0	0	T	24545692	A	T	24545692	5	4	86	1	0	0	0	0	0	0	1	0	11677	57	2	5	782	5	PDK3	23	24545692	Splice_Site	SNP	A	TCGA-DU-7010-01A-11D-2024-08	2918226	24545692	130724868	104	3772											
FAM47B	170062	broad.mit.edu	37	chrX	34961870	34961870	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agactggagtgtcccatctcCgcccagagccttccaagact	9	8	9	15	1	1	3	0	0	1	3	4	4	3	4	5	1	1	0	5	1	1	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:34961870C>T	uc004ddi.2	+	0	958	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	308	Pro-rich.									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						GTCCCATCTCCGCCCAGAGCC	0.632													29	72					0	0	1	0	0	T	34961870	C	T	34961870	3	4	86	1	0	0	0	0	1	0	0	0	5570	652	23	2	924	2	FAM47B	23	34961870	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	10416178	34961870	120308690	105	3773											
XK	7504	broad.mit.edu	37	chrX	37553613	37553613	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagtatcaccaagaagaGgcaaatgccaaaaaatggcc	17	6	9	9	0	2	2	2	0	0	2	2	2	2	2	3	2	1	2	3	2	7	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:37553613G>A	uc004ddq.3	+	1	402	c.320G>A	c.(319-321)aGg>aAg	p.R107K		NM_021083	NP_066569	P51811	XK_HUMAN	Homo sapiens X-linked Kx blood group (McLeod syndrome) (XK), mRNA.	107					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				ACCAAGAAGAGGCAAATGCCA	0.468													7	23					0	0	1	0	0	A	37553613	G	A	37553613	3	1	86	1	0	0	0	0	1	0	0	0	17428	1000	35	3	326	3	XK	23	37553613	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	2591743	37553613	117716947	106	3774											
AKAP4	8852	broad.mit.edu	37	chrX	49958081	49958081	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taagggcactgaccaagcgcTtcagcatggcctccatgatg	10	8	11	12	1	1	2	1	2	0	0	2	2	2	2	3	2	2	3	3	2	2	2			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:49958081T>C	uc004dow.1	-	4	1407	c.1283A>G	c.(1282-1284)aAg>aGg	p.K428R	AKAP4_uc004dou.1_Missense_Mutation_p.K419R|AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.K250R	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	428				KR -> IL (in Ref. 2; AAC79433).	cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GACCAAGCGCTTCAGCATGGC	0.478													36	101					0	0	1	0	0	C	49958081	T	C	49958081	3	2	86	1	0	0	0	0	1	0	0	0	453	1609	56	4	1289	4	AKAP4	23	49958081	Missense_Mutation	SNP	T	TCGA-DU-7010-01A-11D-2024-08	12404468	49958081	105312479	107	3775											
MED12	9968	broad.mit.edu	37	chrX	70345937	70345937	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcctgaagccttccccaCtgctgaagatatctttgcta	8	11	8	14	1	1	3	0	2	1	1	2	3	2	3	5	1	3	2	5	1	4	4			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:70345937C>A	uc004dyy.3	+	17	2673	c.2474C>A	c.(2473-2475)aCt>aAt	p.T825N	MED12_uc011mpq.1_Missense_Mutation_p.T825N|MED12_uc004dyz.3_Missense_Mutation_p.T825N|MED12_uc004dza.3_Missense_Mutation_p.T672N	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	825					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GCCTTCCCCACTGCTGAAGAT	0.552			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						19	94					9.7654e-05	0.000102434	1	1	0	A	70345937	C	A	70345937	3	1	86	1	0	0	0	0	1	0	0	0	9428	565	20	5	2544	5	MED12	23	70345937	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	20387856	70345937	84924623	108	3776											
LONRF3	79836	broad.mit.edu	37	chrX	118148199	118148199	+	Frame_Shift_Del	DEL	G	G	-																															gaggattgtgctgagctcatGggattacataactgtgtcta																										TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:118148199delG	uc004eqw.3	+	9	2035	c.2004delG	c.(2002-2004)atgfs	p.M668fs	LONRF3_uc004eqx.3_Frame_Shift_Del_p.M627fs|LONRF3_uc004eqy.3_Non-coding_Transcript|LONRF3_uc004eqz.3_Frame_Shift_Del_p.M412fs	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 3 (LONRF3), transcript variant 1, mRNA.	668	Lon.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CTGAGCTCATGGGATTACATA	0.438													59	245	---	---	---	---						-	118148199	G	-	118148199	7	5	86	1	0	1	0	1	0	0	0	0	8896	1348	47	0	2042	0	LONRF3	23	118148199	Frame_Shift_Del	DEL	G	TCGA-DU-7010-01A-11D-2024-08	47802262	118148199	37122361	109	3777											
NKAP	79576	broad.mit.edu	37	chrX	119070601	119070601	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtagaagctgaagtagtgCttttctttggctcttcatcc	9	15	9	8	0	3	2	1	1	2	1	4	2	4	2	1	1	2	5	1	1	5	6			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:119070601C>A	uc004esh.3	-	2	679	c.512G>T	c.(511-513)aGc>aTc	p.S171I	NKAP_uc004esg.3_Missense_Mutation_p.S58I	NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN	Homo sapiens NFKB activating protein (NKAP), mRNA.	171					Notch signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						TGAAGTAGTGCTTTTCTTTGG	0.294													15	48					3.52763e-06	3.77961e-06	1	1	0	A	119070601	C	A	119070601	3	1	86	1	0	0	0	0	1	0	0	0	10439	797	28	5	763	5	NKAP	23	119070601	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	922402	119070601	36199959	110	3778											
ODZ1	10178	broad.mit.edu	37	chrX	123525989	123525989	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcatattccattttttcAttccacgttcctctttgaat	7	20	4	10	1	3	1	2	1	1	0	6	1	6	1	3	1	0	1	3	1	2	8			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:123525989A>G	uc010nqy.3	-	27	5665	c.5601T>C	c.(5599-5601)aaT>aaC	p.N1867N	ODZ1_uc011muj.2_Silent_p.N1866N|ODZ1_uc004euj.3_Silent_p.N1860N	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1860					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	p.N1862K(1)		NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CCATTTTTTCATTCCACGTTC	0.393													20	53					0	0	1	0	0	G	123525989	A	G	123525989	2	3	86	1	0	0	0	0	0	0	0	1	10834	214	8	3		3	ODZ1	23	123525989	Silent	SNP	A	TCGA-DU-7010-01A-11D-2024-08	4455388	123525989	31744571	111	3779											
DDX26B	203522	broad.mit.edu	37	chrX	134709030	134709030	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcccttcatagtgttccagTtgcacaaatgggtaactatc	10	14	7	10	0	1	0	1	0	0	0	4	0	3	0	2	1	2	4	2	1	4	7			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:134709030T>A	uc004eyw.4	+	12	2015	c.1652T>A	c.(1651-1653)gTt>gAt	p.V551D	DDX26B_uc004eyx.4_Missense_Mutation_p.V152D	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.	551										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGTTCCAGTTGCACAAATG	0.413													24	103					0	0	1	0	0	A	134709030	T	A	134709030	3	1	86	1	0	0	0	0	1	0	0	0	4353	1725	60	5	1702	5	DDX26B	23	134709030	Missense_Mutation	SNP	T	TCGA-DU-7010-01A-11D-2024-08	11183041	134709030	20561530	112	3780											
GPR112	139378	broad.mit.edu	37	chrX	135430980	135430980	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctatcagcaactcaacaGtcatcacaagcagatgaggc	14	9	7	11	0	5	2	4	1	1	1	5	2	5	2	0	1	4	2	0	1	4	2			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:135430980G>C	uc004ezu.1	+	5	5406	c.5115G>C	c.(5113-5115)caG>caC	p.Q1705H	GPR112_uc010nsb.1_Missense_Mutation_p.Q1500H|GPR112_uc010nsc.1_Missense_Mutation_p.Q1472H	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1705					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAACTCAACAGTCATCACAAG	0.458													26	164					0	0	1	0	0	C	135430980	G	C	135430980	3	2	86	1	0	0	0	0	1	0	0	0	6629	1020	36	5	5125	5	GPR112	23	135430980	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	721950	135430980	19839580	113	3781											
MAGEC2	51438	broad.mit.edu	37	chrX	141290652	141290652	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaaactatcctagactTcactcagaaaaggagacgtt	16	8	9	8	1	2	4	2	0	0	4	3	6	3	5	1	2	1	1	1	2	6	4			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:141290652T>A	uc022cfj.1	-	1	1122	c.1122_splice	c.e1+1	p.*374_splice	MAGEC2_uc004fbu.2_Nonstop_Mutation_p.*374C	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	0						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					ATCCTAGACTTCACTCAGAAA	0.502										HNSCC(46;0.14)			20	73					0	0	1	0	0	A	141290652	T	A	141290652	5	1	86	1	0	0	0	0	0	0	1	0	9181	1796	62	5	3	5	MAGEC2	23	141290652	Splice_Site	SNP	T	TCGA-DU-7010-01A-11D-2024-08	5859672	141290652	13979908	114	3782											
MAGEA3	4102	broad.mit.edu	37	chrX	151935721	151935721	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagctttgctgaagatcAcaggaaagaaatactgccaa	16	8	10	7	0	1	3	1	1	0	2	1	5	1	5	1	2	4	2	1	2	6	2			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:151935721A>G	uc022chl.1	-	0	446	c.446T>C	c.(445-447)gTg>gCg	p.V149A	MAGEA3_uc004fgp.3_Missense_Mutation_p.V149A	NM_005362	NP_005353	P43357	MAGA3_HUMAN	Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA.	149	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GCTGAAGATCACAGGAAAGAA	0.517													83	107					0	0	1	0	0	G	151935721	A	G	151935721	3	3	86	1	0	0	0	0	1	0	0	0	9167	159	6	3	502	3	MAGEA3	23	151935721	Missense_Mutation	SNP	A	TCGA-DU-7010-01A-11D-2024-08	10645069	151935721	3334839	115	3783											
OPN1LW	5956	broad.mit.edu	37	chrX	153416330	153416330	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacctagcagagaccgtcatCgccagcactatcagcattgt	11	8	9	13	2	2	1	2	0	0	1	3	3	2	1	3	0	3	3	3	0	2	3			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:153416330C>T	uc004fjz.4	+	1	348	c.315C>T	c.(313-315)atC>atT	p.I105I		NM_020061	NP_064445	P04000	OPSR_HUMAN	Homo sapiens opsin 1 (cone pigments), long-wave-sensitive (OPN1LW), mRNA.	105					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGACCGTCATCGCCAGCACTA	0.597													25	98					0	0	1	0	0	T	153416330	C	T	153416330	2	4	86	1	0	0	0	0	0	0	0	1	10877	874	31	2		2	OPN1LW	23	153416330	Silent	SNP	C	TCGA-DU-7010-01A-11D-2024-08	1480609	153416330	1854230	116	3784											
G6PD	2539	broad.mit.edu	37	chrX	153760890	153760890	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggcctcgttgggctgcacGcggatcaccagctcgttgcg	5	8	14	14	6	1	0	1	0	0	0	3	1	1	1	2	3	3	5	2	3	0	2			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:153760890G>A	uc004fly.1	-	9	1292	c.1179C>T	c.(1177-1179)cgC>cgT	p.R393R	G6PD_uc004flx.1_Silent_p.R423R	NM_001042351	NP_001035810	P11413	G6PD_HUMAN	Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 2, mRNA.	393			R -> H (in Nashville/Anaheim; class I).		cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	NADP binding|glucose binding|glucose-6-phosphate dehydrogenase activity|protein homodimerization activity	p.R393L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGGCTGCACGCGGATCACCA	0.612													24	66					0	0	1	0	0	A	153760890	G	A	153760890	2	1	86	1	0	0	0	0	0	0	0	1	6146	1074	38	1		1	G6PD	23	153760890	Silent	SNP	G	TCGA-DU-7010-01A-11D-2024-08	344560	153760890	1509670	117	3785											
HSPG2	3339	broad.mit.edu	37	chr1	22201401	22201401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacctggcaggacggcccacGgtacccgggtgggcaggagc	7	3	17	14	3	0	0	0	0	0	0	0	2	0	2	3	7	2	3	3	7	1	1			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr1:22201401G>A	uc009vqd.3	-	25	3440	c.3400C>T	c.(3400-3402)Cgt>Tgt	p.R1134C	HSPG2_uc001bfj.3_Missense_Mutation_p.R1133C	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	1133	Laminin EGF-like 5; second part.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GACGGCCCACGGTACCCGGGT	0.697													4	8					0	0	1	0	0	A	22201401	G	A	22201401	3	1	87	1	0	0	0	0	1	0	0	0	7430	1116	39	2	10066	2	HSPG2	1	22201401	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08		22201401	227049220	1	3786											
TRIM63	84676	broad.mit.edu	37	chr1	26387823	26387823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgcccttctgcagcggcCgactgcagtggagaacagtc	8	7	13	13	2	1	1	0	0	1	1	2	4	1	1	2	2	5	2	2	2	1	1			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr1:26387823C>T	uc001bli.1	-	2	471	c.335G>A	c.(334-336)cGg>cAg	p.R112Q		NM_032588	NP_115977	Q969Q1	TRI63_HUMAN	Homo sapiens tripartite motif containing 63 (TRIM63), mRNA.	112	Interaction with TTN.					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|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;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCAGCGGCCGACTGCAGTG	0.592													7	28					0	0	1	0	0	T	26387823	C	T	26387823	3	4	87	1	0	0	0	0	1	0	0	0	16535	652	23	2	754	2	TRIM63	1	26387823	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	4186422	26387823	222862798	2	3787											
GPATCH3	63906	broad.mit.edu	37	chr1	27224101	27224101	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccacattccctctgggcatCagcactggtgggttcagctc	6	10	10	15	0	3	0	2	0	1	0	5	0	4	0	2	3	2	4	2	3	0	2			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr1:27224101C>T	uc001bne.3	-	1	596	c.567G>A	c.(565-567)ctG>ctA	p.L189L	BC016143_uc021ojq.1_Intron|GPATCH3_uc009vsp.2_5'UTR	NM_022078	NP_071361	Q96I76	GPTC3_HUMAN	Homo sapiens G patch domain containing 3 (GPATCH3), mRNA.	189						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		CTCTGGGCATCAGCACTGGTG	0.602													17	50					0	0	1	0	0	T	27224101	C	T	27224101	2	4	87	1	0	0	0	0	0	0	0	1	6592	813	29	3		3	GPATCH3	1	27224101	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08	836278	27224101	222026520	3	3788											
ANKRD36	375248	broad.mit.edu	37	chr2	97867956	97867956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtgtcttctcagaaaccaCcagccttgaaggtaatgaaa	14	9	8	10	0	2	3	1	2	2	1	3	3	2	3	3	1	2	1	3	1	4	3			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr2:97867956C>T	uc010yva.2	+	46	3119	c.2875C>T	c.(2875-2877)Cca>Tca	p.P959S	ANKRD36_uc002sxp.3_Non-coding_Transcript	NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.	959										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TCAGAAACCACCAGCCTTGAA	0.333													4	27					0	0	1	0	0	T	97867956	C	T	97867956	3	4	87	1	0	0	0	0	1	0	0	0	665	507	18	3	3061	3	ANKRD36	2	97867956	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08		97867956	145331417	4	3789											
VGLL4	9686	broad.mit.edu	37	chr3	11600065	11600065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggggagtgactgtggctgaCcatgtgggcagaggggctgg	6	7	22	6	0	0	3	0	2	0	1	0	4	0	4	1	7	0	3	1	7	0	0			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr3:11600065C>T	uc010hdx.1	-	4	1262	c.856G>A	c.(856-858)Gtc>Atc	p.V286I	VGLL4_uc003bwf.2_Missense_Mutation_p.V280I|VGLL4_uc003bwg.2_Missense_Mutation_p.V285I|VGLL4_uc010hdv.1_Missense_Mutation_p.V196I|VGLL4_uc010hdw.1_Missense_Mutation_p.V200I|VGLL4_uc011aun.1_Missense_Mutation_p.V221I	NM_001128219	NP_001121691	Q14135	VGLL4_HUMAN	Homo sapiens vestigial like 4 (Drosophila) (VGLL4), transcript variant 1, mRNA.	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		CTGTGGCTGACCATGTGGGCA	0.622													16	51					0	0	1	0	0	T	11600065	C	T	11600065	3	4	87	1	0	0	0	0	1	0	0	0	17158	507	18	3	38	3	VGLL4	3	11600065	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08		11600065	186422365	5	3790											
PRSS50	29122	broad.mit.edu	37	chr3	46755847	46755847	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcttgaggaggccgatgtcGttggcctggcccacccagga	7	7	15	12	2	0	1	0	1	0	0	1	4	0	3	4	5	1	2	4	5	0	2			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr3:46755847G>A	uc003cqe.1	-	3	1097	c.615C>T	c.(613-615)aaC>aaT	p.N205N	PRSS50_uc021wxe.1_Silent_p.N205N|PRSS50_uc003cqf.2_Silent_p.N119N	NM_013270	NP_037402	Q9UI38	TSP50_HUMAN	Homo sapiens protease, serine, 50 (PRSS50), mRNA.	205	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						GGCCGATGTCGTTGGCCTGGC	0.607													9	10					0	0	1	0	0	A	46755847	G	A	46755847	2	1	87	1	0	0	0	0	0	0	0	1	12631	1136	40	1		1	PRSS50	3	46755847	Silent	SNP	G	TCGA-DU-7012-01A-11D-2024-08	35155782	46755847	151266583	6	3791											
NIT2	56954	broad.mit.edu	37	chr3	100057936	100057936	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctttgttctcagctttcCgcttggccctcatccagctt	3	17	7	14	1	3	0	2	0	2	0	6	0	5	0	3	1	2	4	3	1	0	5			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr3:100057936C>T	uc003dtv.3	+	1	87	c.13C>T	c.(13-15)Cgc>Tgc	p.R5C	NIT2_uc011bha.1_Missense_Mutation_p.R5C	NM_020202	NP_064587	Q9NQR4	NIT2_HUMAN	Homo sapiens nitrilase family, member 2 (NIT2), mRNA.	5	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						CTCAGCTTTCCGCTTGGCCCT	0.473													33	99					0	0	1	0	0	T	100057936	C	T	100057936	3	4	87	1	0	0	0	0	1	0	0	0	10434	652	23	2	19	2	NIT2	3	100057936	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	53302089	100057936	97964494	7	3792											
LRRC33	375387	broad.mit.edu	37	chr3	196387770	196387770	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctcctgggcgtcccccCtggcctcttcgccaatgcta	4	9	9	19	2	1	0	0	0	1	0	4	0	3	0	7	2	2	2	7	2	2	2			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr3:196387770C>T	uc003fwv.3	+	2	1360	c.1256C>T	c.(1255-1257)cCt>cTt	p.P419L		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA.	419						integral to membrane				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3)	40	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		GGCGTCCCCCCTGGCCTCTTC	0.637													38	107					0	0	1	0	0	T	196387770	C	T	196387770	3	4	87	1	0	0	0	0	1	0	0	0	8988	681	24	3	1262	3	LRRC33	3	196387770	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	96329834	196387770	1634660	8	3793											
JAKMIP1	152789	broad.mit.edu	37	chr4	6043922	6043922	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccagcatcttctgggtcagGgcggcctcggtcccctctat	4	11	11	15	2	4	0	1	0	3	0	7	0	6	0	4	4	1	1	4	4	1	2			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr4:6043922G>A	uc010idb.1	-	16	2547	c.2061C>T	c.(2059-2061)gcC>gcT	p.A687A	JAKMIP1_uc010idc.1_Silent_p.A502A|JAKMIP1_uc010idd.1_Intron	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	458					protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCTGGGTCAGGGCGGCCTCGG	0.547													10	45					0	0	1	0	0	A	6043922	G	A	6043922	2	1	87	1	0	0	0	0	0	0	0	1	7940	1219	43	3		3	JAKMIP1	4	6043922	Silent	SNP	G	TCGA-DU-7012-01A-11D-2024-08		6043922	185110354	9	3794											
ZCCHC4	29063	broad.mit.edu	37	chr4	25351255	25351255	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgctatgtggaaagaaggtCaaagccaaggtgtataattt	14	12	11	4	0	1	1	1	0	0	1	1	2	1	2	1	3	2	2	1	3	7	5			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr4:25351255C>T	uc003grl.4	+	6	937	c.901C>T	c.(901-903)Caa>Taa	p.Q301*	ZCCHC4_uc003grm.1_Non-coding_Transcript	NM_024936	NP_079212	Q9H5U6	ZCHC4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 4 (ZCCHC4), mRNA.	301							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				GAAAGAAGGTCAAAGCCAAGG	0.378													28	68					0	0	1	0	0	T	25351255	C	T	25351255	4	4	87	1	0	0	0	0	0	1	0	0	17587	827	29	3	927	3	ZCCHC4	4	25351255	Nonsense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	19307333	25351255	165803021	10	3795											
AFM	173	broad.mit.edu	37	chr4	74352724	74352724	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaacccatttgtcttcGcccctacacttctaactgtt	9	13	6	13	1	2	0	0	0	2	0	3	2	2	1	3	1	3	1	3	1	4	6			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr4:74352724G>A	uc003hhb.3	+	4	554	c.523G>A	c.(523-525)Gcc>Acc	p.A175T		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	175	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATTTGTCTTCGCCCCTACACT	0.398													16	58					0	0	1	0	0	A	74352724	G	A	74352724	3	1	87	1	0	0	0	0	1	0	0	0	361	1087	38	1	541	1	AFM	4	74352724	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08	49001469	74352724	116801552	11	3796											
PCDHGC5	56097	broad.mit.edu	37	chr5	140744613	140744613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcgacgcaaacgacaatgCgcccctgttcaccccatccg	9	6	7	19	5	1	0	1	0	0	0	3	2	2	0	6	0	2	2	6	0	2	1			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr5:140744613C>T	uc003lju.2	+	0	716	c.716C>T	c.(715-717)gCg>gTg	p.A239V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Missense_Mutation_p.A239V	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	239	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGACAATGCGCCCCTGTTC	0.587													24	75					0	0	1	0	0	T	140744613	C	T	140744613	3	4	87	1	0	0	0	0	1	0	0	0	11571	768	27	1		1	PCDHGC5	5	140744613	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08		140744613	40170647	12	3797											
FAT2	2196	broad.mit.edu	37	chr5	150921911	150921911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccagggtctttagagtcGccaccagttcgccaggctca	8	9	10	14	2	2	1	1	0	1	1	5	1	3	1	4	2	0	2	4	2	1	3			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr5:150921911G>A	uc003lue.4	-	8	8790	c.8777C>T	c.(8776-8778)gCg>gTg	p.A2926V		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2926	Cadherin 26.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.A2926A(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTTAGAGTCGCCACCAGTTC	0.507													38	119					0	0	1	0	0	A	150921911	G	A	150921911	3	1	87	1	0	0	0	0	1	0	0	0	5690	1087	38	1	4332	1	FAT2	5	150921911	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08	10177298	150921911	29993349	13	3798											
DPPA5	340168	broad.mit.edu	37	chr6	74063752	74063752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagggattcgagatccgtccGggcctgttggggaaaagaga	11	7	16	7	3	0	2	0	0	0	2	3	6	2	4	3	4	0	1	3	4	3	2			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr6:74063752G>A	uc003pgs.2	-	1	167	c.116C>T	c.(115-117)cCg>cTg	p.P39L		NM_001025290	NP_001020461	A6NC42	DPPA5_HUMAN	Homo sapiens developmental pluripotency associated 5 (DPPA5), mRNA.	39	KH; atypical.				multicellular organismal development	cytoplasm	RNA binding			NS(1)|endometrium(1)|lung(5)	7						AGATCCGTCCGGGCCTGTTGG	0.612													26	58					0	0	1	0	0	A	74063752	G	A	74063752	3	1	87	1	0	0	0	0	1	0	0	0	4737	1116	39	2	242	2	DPPA5	6	74063752	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08		74063752	97051315	14	3799											
TMEM184A	202915	broad.mit.edu	37	chr7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC																															ctcccgccggagccgccgctINSggggtgggtgccgggcctgg																								rs3837151	by1000genomes	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:1586662_1586663insGCC	uc003skv.4	-	8	1484_1485	c.1167_1168insGGC	c.(1165-1170)insGGC	p.389_390insG	TMEM184A_uc003skt.4_In_Frame_Ins_p.368_369insG|TMEM184A_uc021zyr.1_In_Frame_Ins_p.194_195insG	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN	Homo sapiens transmembrane protein 184A (TMEM184A), mRNA.	389						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703													7	55	---	---	---	---						GCC	1586663	-	GCC	1586662	7	5	87	1	0	1	1	0	0	0	0	0	16101	1580	55	0	77	0	TMEM184A	7	1586662	In_Frame_Ins	INS	-	TCGA-DU-7012-01A-11D-2024-08		1586662	157552001	15	3800											
MACC1	346389	broad.mit.edu	37	chr7	20197969	20197969	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagggacagatgtgagtaaCccaggacatcagctaaaact	15	6	10	10	0	1	2	1	1	0	1	1	4	1	4	2	2	3	2	2	2	3	2			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:20197969C>A	uc003sus.4	-	4	2324	c.2015G>T	c.(2014-2016)gGt>gTt	p.G672V	MACC1_uc010kug.3_Missense_Mutation_p.G672V	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	672					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						ATGTGAGTAACCCAGGACATC	0.338													20	40					7.45023e-12	8.08622e-12	1	1	0	A	20197969	C	A	20197969	3	1	87	1	0	0	0	0	1	0	0	0	9143	507	18	5	555	5	MACC1	7	20197969	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	18611307	20197969	138940694	16	3801											
EGFR	1956	broad.mit.edu	37	chr7	55221723	55221723	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgccgcaaattccgagAcgaagccacgtgcaaggaca	12	5	12	12	4	1	1	0	0	1	1	2	4	2	2	3	2	3	2	3	2	3	1			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:55221723A>G	uc003tqk.3	+	6	1013	c.767A>G	c.(766-768)gAc>gGc	p.D256G	EGFR_uc003tqh.3_Missense_Mutation_p.D256G|EGFR_uc003tqi.3_Missense_Mutation_p.D256G|EGFR_uc003tqj.3_Missense_Mutation_p.D256G|EGFR_uc022adm.1_Missense_Mutation_p.D256G|EGFR_uc010kzg.2_Missense_Mutation_p.D211G|EGFR_uc022adn.1_Missense_Mutation_p.D211G|EGFR_uc011kco.2_Missense_Mutation_p.D203G|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	256					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.D256A(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AAATTCCGAGACGAAGCCACG	0.587		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			42	64					0	0	1	0	0	G	55221723	A	G	55221723	3	3	87	1	0	0	0	0	1	0	0	0	4967	275	10	3	793	3	EGFR	7	55221723	Missense_Mutation	SNP	A	TCGA-DU-7012-01A-11D-2024-08	35023754	55221723	103916940	17	3802											
WBSCR28	135886	broad.mit.edu	37	chr7	73280003	73280003	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccctcacctcctggcacCtggcctatctcatcacctgg	5	10	7	19	0	3	0	3	0	1	0	5	0	4	0	6	3	1	1	6	3	1	1			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:73280003C>T	uc003tzk.2	+	2	634	c.598C>T	c.(598-600)Ctg>Ttg	p.L200L	WBSCR28_uc003tzl.2_Silent_p.L99L	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 28 (WBSCR28), mRNA.	200						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				CTCCTGGCACCTGGCCTATCT	0.612													58	244					0	0	1	0	0	T	73280003	C	T	73280003	2	4	87	1	0	0	0	0	0	0	0	1	17264	680	24	3		3	WBSCR28	7	73280003	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08	18058280	73280003	85858660	18	3803											
ABCB4	5244	broad.mit.edu	37	chr7	87104712	87104712	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggatgtacctgctgatgcCcagttcaaagtcgccctccg	7	9	12	13	2	1	1	1	1	0	0	3	2	2	2	4	2	3	3	4	2	2	2			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:87104712C>G	uc003uiv.1	-	1	146	c.70G>C	c.(70-72)Ggc>Cgc	p.G24R	ABCB4_uc003uiw.1_Missense_Mutation_p.G24R|ABCB4_uc003uix.1_Missense_Mutation_p.G24R|ABCB4_uc003uiy.3_Missense_Mutation_p.G24R	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	24					cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CTGCTGATGCCCAGTTCAAAG	0.547													13	57					0	0	1	0	0	G	87104712	C	G	87104712	3	3	87	1	0	0	0	0	1	0	0	0	43	623	22	5	3898	5	ABCB4	7	87104712	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	13824709	87104712	72033951	19	3804											
HEPACAM2	253012	broad.mit.edu	37	chr7	92838183	92838183	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattcacttgaagtccataaGgtccatctgcatcaatataa	15	12	5	9	0	3	1	2	1	1	0	5	1	5	1	2	1	1	1	2	1	6	5			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:92838183G>T	uc011khy.2	-	4	814	c.791C>A	c.(790-792)cCt>cAt	p.P264H	HEPACAM2_uc003uml.3_Missense_Mutation_p.P229H|HEPACAM2_uc010lff.3_Missense_Mutation_p.P229H|HEPACAM2_uc003umm.3_Missense_Mutation_p.P241H	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	241	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						AAGTCCATAAGGTCCATCTGC	0.358													16	66					2.32078e-09	2.45893e-09	1	1	0	T	92838183	G	T	92838183	3	4	87	1	0	0	0	0	1	0	0	0	7053	1000	35	5	694	5	HEPACAM2	7	92838183	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08	5733471	92838183	66300480	20	3805											
UFSP1	402682	broad.mit.edu	37	chr7	100486857	100486857	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccacgcagccgatccagtcCcgggagccccggaagccggg	7	3	14	17	5	0	0	0	0	0	0	3	3	3	2	7	3	3	1	7	3	1	0			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:100486857C>T	uc003uxc.4	-	0	483	c.36G>A	c.(34-36)cgG>cgA	p.R12R	DJ051769_uc010lhm.1_5'Flank	NM_001015072	NP_001015072	Q6NVU6	UFSP1_HUMAN	Homo sapiens UFM1-specific peptidase 1 (non-functional) (UFSP1), mRNA.	12										lung(1)|stomach(1)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)					CGATCCAGTCCCGGGAGCCCC	0.751													10	40					0	0	1	0	0	T	100486857	C	T	100486857	2	4	87	1	0	0	0	0	0	0	0	1	16934	610	22	3		3	UFSP1	7	100486857	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08	7648674	100486857	58651806	21	3806											
MUC17	140453	broad.mit.edu	37	chr7	100683975	100683975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcctacacctgctgaaggtaCcagcatgccaatctcaactt	11	10	6	14	0	1	1	1	1	1	0	3	1	2	1	4	1	6	3	4	1	5	3			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:100683975C>T	uc003uxp.1	+	2	9331	c.9278C>T	c.(9277-9279)aCc>aTc	p.T3093I	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3093	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T3093T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCTGAAGGTACCAGCATGCCA	0.493													119	449					0	0	1	0	0	T	100683975	C	T	100683975	3	4	87	1	0	0	0	0	1	0	0	0	9974	507	18	3	9288	3	MUC17	7	100683975	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	197118	100683975	58454688	22	3807											
CFTR	1080	broad.mit.edu	37	chr7	117267621	117267621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttcattgacatgccaacaGaaggtaaacctaccaagtca	16	8	7	10	0	2	2	2	1	0	1	2	2	2	2	3	1	4	2	3	1	6	4			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:117267621G>A	uc003vjd.3	+	21	3646	c.3514G>A	c.(3514-3516)Gaa>Aaa	p.E1172K	CFTR_uc011knq.2_Missense_Mutation_p.E578K	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	1172					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CATGCCAACAGAAGGTAAACC	0.368									Cystic Fibrosis				9	48					0	0	1	0	0	A	117267621	G	A	117267621	3	1	87	1	0	0	0	0	1	0	0	0	3294	943	33	3	3600	3	CFTR	7	117267621	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08	16583646	117267621	41871042	23	3808											
MGAM	8972	broad.mit.edu	37	chr7	141708343	141708343	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actggtaccccagatcctggGacaactggtaccccagatcc	10	7	9	15	0	0	2	0	0	0	2	2	3	2	3	6	3	3	2	6	3	3	2			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:141708343G>A	uc003vwy.3	+	2	219	c.165G>A	c.(163-165)ggG>ggA	p.G55G		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	55	Ser/Thr-rich.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAGATCCTGGGACAACTGGTA	0.473													4	26					0	0	1	0	0	A	141708343	G	A	141708343	2	1	87	1	0	0	0	0	0	0	0	1	9541	1161	41	3		3	MGAM	7	141708343	Silent	SNP	G	TCGA-DU-7012-01A-11D-2024-08	24440722	141708343	17430320	24	3809											
CHMP4C	92421	broad.mit.edu	37	chr8	82667660	82667660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagagcaacaggatatcGcccaagaaatctcagaagca	17	5	8	11	1	2	3	2	0	1	3	4	4	2	4	1	1	3	2	1	1	5	1			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr8:82667660G>A	uc003ycl.3	+	2	598	c.424G>A	c.(424-426)Gcc>Acc	p.A142T		NM_152284	NP_689497	Q96CF2	CHM4C_HUMAN	Homo sapiens charged multivesicular body protein 4C (CHMP4C), mRNA.	142	Intramolecular interaction with C- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						ACAGGATATCGCCCAAGAAAT	0.378													18	68					0	0	1	0	0	A	82667660	G	A	82667660	3	1	87	1	0	0	0	0	1	0	0	0	3358	1087	38	1	434	1	CHMP4C	8	82667660	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08		82667660	63696362	25	3810											
DMRT2	10655	broad.mit.edu	37	chr9	1056823	1056823	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacactcctgagatccagacCacgagaagtgaccttcaggg	12	6	10	13	1	1	4	1	2	0	3	3	6	3	4	4	1	0	0	4	1	1	1			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr9:1056823C>T	uc003zha.3	+	3	1436	c.1236C>T	c.(1234-1236)acC>acT	p.T412T	DMRT2_uc003zhb.4_3'UTR|DMRT2_uc003zgy.4_Silent_p.T256T|DMRT2_uc011llt.2_3'UTR|DMRT2_uc022bcw.1_3'UTR|DMRT2_uc011llv.2_Silent_p.T412T	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 2 (DMRT2), transcript variant 3, mRNA.	412					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		AGATCCAGACCACGAGAAGTG	0.577													49	49					0	0	1	0	0	T	1056823	C	T	1056823	2	4	87	1	0	0	0	0	0	0	0	1	4586	581	21	3		3	DMRT2	9	1056823	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08		1056823	140156608	26	3811											
SLC27A4	10999	broad.mit.edu	37	chr9	131118036	131118036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aactgcccctgtatgcgcgcCccatcttcctgcgcctcctg	4	10	8	19	3	1	0	0	0	1	0	3	0	3	0	7	0	4	1	7	0	2	2			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr9:131118036C>T	uc004but.3	+	11	2020	c.1735C>T	c.(1735-1737)Ccc>Tcc	p.P579S	SLC27A4_uc004buu.3_Missense_Mutation_p.P173S	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 4 (SLC27A4), mRNA.	579					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						GTATGCGCGCCCCATCTTCCT	0.637													14	70					0	0	1	0	0	T	131118036	C	T	131118036	3	4	87	1	0	0	0	0	1	0	0	0	14528	623	22	3	1777	3	SLC27A4	9	131118036	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	130061213	131118036	10095395	27	3812											
MRPL41	64975	broad.mit.edu	37	chr9	140446796	140446796	+	Frame_Shift_Del	DEL	C	C	-																															cgaggagacgcccctgacggCcgcgcagctcttcagcgaag																								rs11555676		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr9:140446796delC	uc022bqj.1	+	0	263	c.263delC	c.(262-264)gccfs	p.A88fs	PNPLA7_uc010ncj.1_5'Flank|PNPLA7_uc004cnf.2_5'Flank|MRPL41_uc004cnh.4_Frame_Shift_Del_p.A88fs	NM_032477	NP_115866	Q8IXM3	RM41_HUMAN	Homo sapiens mitochondrial ribosomal protein L41 (MRPL41), nuclear gene encoding mitochondrial protein, mRNA.	88					apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		CCCCTGACGGCCGCGCAGCTC	0.627													10	44	---	---	---	---						-	140446796	C	-	140446796	7	5	87	1	0	1	0	1	0	0	0	0	9805	739	26	0	265	0	MRPL41	9	140446796	Frame_Shift_Del	DEL	C	TCGA-DU-7012-01A-11D-2024-08	9328760	140446796	766635	28	3813											
PTEN	5728	broad.mit.edu	37	chr10	89720813	89720813	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctagtacttactttaacaAaaaatgatcttgacaaagca	18	12	4	7	0	2	2	0	2	2	0	2	2	2	2	0	0	4	2	0	0	8	6			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr10:89720813A>G	uc001kfb.3	+	7	1996	c.964A>G	c.(964-966)Aaa>Gaa	p.K322E	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	322	C2 tensin-type.				T cell receptor signaling pathway|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 G1/S transition of mitotic cell cycle|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 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	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion 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.0?(37)|p.T321fs*3(15)|p.T321fs*23(10)|p.R55fs*1(5)|p.T319_K332del(2)|p.T321fs*22(2)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.V317_K322del(2)|p.G165_*404del(1)|p.N323fs*21(1)|p.G165_K342del(1)|p.L316fs*1(1)|p.T321fs*6(1)|p.T321fs*4(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)		TACTTTAACAAAAAATGATCT	0.323		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)			21	35					0	0	1	0	0	G	89720813	A	G	89720813	3	3	87	1	0	0	0	0	1	0	0	0	12738	15	1	3	994	3	PTEN	10	89720813	Missense_Mutation	SNP	A	TCGA-DU-7012-01A-11D-2024-08		89720813	45813934	29	3814											
OR51L1	119682	broad.mit.edu	37	chr11	5020872	5020872	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttcatacttctttcttaTgttctgattcttaatactgt	8	22	3	8	0	6	1	1	1	5	0	6	1	6	1	0	0	2	1	0	0	4	9			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:5020872T>C	uc010qyu.2	+	0	660	c.660T>C	c.(658-660)taT>taC	p.Y220Y		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCTTTCTTATGTTCTGATTC	0.403													16	44					0	0	1	0	0	C	5020872	T	C	5020872	2	2	87	1	0	0	0	0	0	0	0	1	11102	1471	51	3		3	OR51L1	11	5020872	Silent	SNP	T	TCGA-DU-7012-01A-11D-2024-08		5020872	129985644	30	3815											
OR5M3	219482	broad.mit.edu	37	chr11	56237331	56237331	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaggatgaataagtaagAgatgataattacagtcaggg	18	9	12	2	0	1	4	1	3	0	1	1	6	1	5	0	2	1	1	0	2	6	4			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:56237331A>T	uc010rjk.2	-	0	684	c.643T>A	c.(643-645)Tct>Act	p.S215T	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AATAAGTAAGAGATGATAATT	0.428													31	91					0	0	1	0	0	T	56237331	A	T	56237331	3	4	87	1	0	0	0	0	1	0	0	0	11175	304	11	5	282	5	OR5M3	11	56237331	Missense_Mutation	SNP	A	TCGA-DU-7012-01A-11D-2024-08	51216459	56237331	78769185	31	3816											
MS4A7	58475	broad.mit.edu	37	chr11	60152680	60152680	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgatgtctgggtacccattTttaggagctctgtgtgtgag	6	16	13	6	0	2	2	0	2	2	0	2	3	2	3	1	2	2	2	1	2	2	5			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:60152680T>C	uc001npe.3	+	2	412	c.267T>C	c.(265-267)ttT>ttC	p.F89F	MS4A7_uc001npf.3_Silent_p.F89F|MS4A7_uc001npg.3_Intron|MS4A7_uc001nph.3_Intron|MS4A14_uc001npi.3_Intron|MS4A7_uc009ymx.1_Intron	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 7 (MS4A7), transcript variant 3, mRNA.	89						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						GGTACCCATTTTTAGGAGCTC	0.483													45	115					0	0	1	0	0	C	60152680	T	C	60152680	2	2	87	1	0	0	0	0	0	0	0	1	9866	1838	64	3		3	MS4A7	11	60152680	Silent	SNP	T	TCGA-DU-7012-01A-11D-2024-08	3915349	60152680	74853836	32	3817											
TSGA10IP	254187	broad.mit.edu	37	chr11	65714852	65714852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggtgtctccatccctactGgcaaaggggagctaggatca	9	8	13	11	1	2	0	1	0	1	0	4	2	3	2	2	5	2	2	2	5	3	2			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:65714852G>A	uc001ogk.1	+	3	585	c.553G>A	c.(553-555)Ggc>Agc	p.G185S	TSGA10IP_uc009yqw.1_Non-coding_Transcript|TSGA10IP_uc009yqx.1_Intron	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN	Homo sapiens testis specific, 10 interacting protein (TSGA10IP), mRNA.	186										endometrium(2)|kidney(3)|lung(9)	14						CATCCCTACTGGCAAAGGGGA	0.637													6	18					0	0	1	0	0	A	65714852	G	A	65714852	3	1	87	1	0	0	0	0	1	0	0	0	16615	1348	47	3	566	3	TSGA10IP	11	65714852	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08	5562172	65714852	69291664	33	3818											
PGR	5241	broad.mit.edu	37	chr11	100998773	100998773	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacgaggcacagggtgaactCcgcggcggggcaaaggcgct	9	3	18	11	5	0	1	0	1	0	0	1	3	1	1	1	6	1	3	1	6	2	0			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:100998773C>A	uc001pgh.2	-	0	1772	c.1029G>T	c.(1027-1029)cgG>cgT	p.R343R	PGR_uc001pgi.2_Silent_p.R343R|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript|FJ515873_uc010rum.2_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	343	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	AGGGTGAACTCCGCGGCGGGG	0.687													16	41					6.94344e-10	7.44538e-10	1	1	0	A	100998773	C	A	100998773	2	1	87	1	0	0	0	0	0	0	0	1	11805	842	30	5		5	PGR	11	100998773	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08	35283921	100998773	34007743	34	3819											
DDI1	414301	broad.mit.edu	37	chr11	103907873	103907873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgggacgtccagctcccGtccacagcaccctggacagc	7	5	11	18	2	0	0	0	0	0	0	3	2	3	2	5	2	3	2	5	2	0	0	rs138983347		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:103907873G>A	uc001phr.2	+	0	566	c.323G>A	c.(322-324)cGt>cAt	p.R108H	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	108					proteolysis		aspartic-type endopeptidase activity	p.R108C(1)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TCCAGCTCCCGTCCACAGCAC	0.672													39	109					0	0	1	0	0	A	103907873	G	A	103907873	3	1	87	1	0	0	0	0	1	0	0	0	4328	1145	40	1	325	1	DDI1	11	103907873	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08	2909100	103907873	31098643	35	3820											
ANKK1	255239	broad.mit.edu	37	chr11	113269791	113269791	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaaggtcacccccctccActtcctggtggcccagggca	8	6	10	17	0	1	0	1	0	0	0	3	1	3	0	6	4	1	1	6	4	2	1			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:113269791A>C	uc001pny.3	+	7	1194	c.1100A>C	c.(1099-1101)cAc>cCc	p.H367P		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	Homo sapiens ankyrin repeat and kinase domain containing 1 (ANKK1), mRNA.	367			H -> Q (in dbSNP:rs34298987).				ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		ACCCCCCTCCACTTCCTGGTG	0.597													4	14					0	0	1	0	0	C	113269791	A	C	113269791	3	2	87	1	0	0	0	0	1	0	0	0	631	159	6	5	1130	5	ANKK1	11	113269791	Missense_Mutation	SNP	A	TCGA-DU-7012-01A-11D-2024-08	9361918	113269791	21736725	36	3821											
ADAMTS20	80070	broad.mit.edu	37	chr12	43840498	43840498	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcactggagtttaacacGtgatcacaaccagctgcctt	10	11	9	11	1	1	1	1	1	0	0	1	2	1	2	2	2	4	3	2	2	2	4			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr12:43840498G>A	uc010skx.2	-	14	2097	c.2097C>T	c.(2095-2097)caC>caT	p.H699H		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	699	Cys-rich.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGTTTAACACGTGATCACAAC	0.373													8	15					0	0	1	0	0	A	43840498	G	A	43840498	2	1	87	1	0	0	0	0	0	0	0	1	266	1136	40	1		1	ADAMTS20	12	43840498	Silent	SNP	G	TCGA-DU-7012-01A-11D-2024-08		43840498	90011397	37	3822											
ASCL1	429	broad.mit.edu	37	chr12	103352171	103352172	+	In_Frame_Ins	INS	-	-	GCA																															gcagcggcagcgcagagcgcINSgcagcagcagcagcagcagc																								rs71438488		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr12:103352171_103352172insGCA	uc001tjr.4	+	0	720_721	c.149_150insGCA	c.(148-150)gcg>gcGCAg	p.62_63insQ	ASCL1_uc021rcu.1_In_Frame_Ins_p.62_63insQ	NM_004316	NP_004307	P50553	ASCL1_HUMAN	Homo sapiens achaete-scute complex homolog 1 (Drosophila) (ASCL1), mRNA.	62	Poly-Gln.			Q -> QQQ (in Ref. 1).	Notch signaling pathway|cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	E-box binding|bHLH transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			NS(3)|large_intestine(1)|lung(1)	5						gcgcagagcgcgcagcagcagc	0.757													3	3	---	---	---	---						GCA	103352172	-	GCA	103352171	7	5	87	1	0	1	1	0	0	0	0	0	1034	768	27	0	151	0	ASCL1	12	103352171	In_Frame_Ins	INS	-	TCGA-DU-7012-01A-11D-2024-08	59511673	103352171	30499724	38	3823											
BTBD11	121551	broad.mit.edu	37	chr12	108008868	108008868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcataaatatccatccGtccaccccgagacccgccat	10	8	4	19	3	1	1	1	0	0	1	5	2	5	1	8	0	0	0	8	0	3	2	rs151233634		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr12:108008868G>A	uc001tmk.1	+	6	2451	c.1930G>A	c.(1930-1932)Gtc>Atc	p.V644I	BTBD11_uc009zut.1_Missense_Mutation_p.V644I|BTBD11_uc001tmj.3_Missense_Mutation_p.V644I|BTBD11_uc001tml.1_Missense_Mutation_p.V181I	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	644						integral to membrane	DNA binding	p.S643F(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ATATCCATCCGTCCACCCCGA	0.413													11	27					0	0	1	0	0	A	108008868	G	A	108008868	3	1	87	1	0	0	0	0	1	0	0	0	1539	1145	40	1	2061	1	BTBD11	12	108008868	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08	4656697	108008868	25843027	39	3824											
ATP8A2	51761	broad.mit.edu	37	chr13	26273415	26273415	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccacaccctgaagtacgcGctctccttcgaagtccggag	8	7	11	15	4	1	1	0	1	1	0	4	3	2	2	4	2	1	2	4	2	3	2			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr13:26273415G>A	uc001uqk.3	+	24	2458	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A	ATP8A2_uc010tdi.2_Silent_p.A732A|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Silent_p.A322A	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	732					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TGAAGTACGCGCTCTCCTTCG	0.552													8	48					0	0	1	0	0	A	26273415	G	A	26273415	2	1	87	1	0	0	0	0	0	0	0	1	1193	1074	38	1		1	ATP8A2	13	26273415	Silent	SNP	G	TCGA-DU-7012-01A-11D-2024-08		26273415	88896463	40	3825											
CLEC14A	161198	broad.mit.edu	37	chr14	38724436	38724436	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcaaagcctcccaagtcGtctaggcagttagggagctc	10	7	12	12	1	1	0	0	0	1	0	4	1	2	1	2	3	2	4	2	3	4	2			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr14:38724436G>A	uc001wum.1	-	0	1139	c.792C>T	c.(790-792)gaC>gaT	p.D264D		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	264	EGF-like.					integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CTCCCAAGTCGTCTAGGCAGT	0.637													61	108					0	0	1	0	0	A	38724436	G	A	38724436	2	1	87	1	0	0	0	0	0	0	0	1	3499	1136	40	1		1	CLEC14A	14	38724436	Silent	SNP	G	TCGA-DU-7012-01A-11D-2024-08		38724436	68625104	41	3826											
INF2	64423	broad.mit.edu	37	chr14	105174336	105174336	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgccatccaacgtggcaCgtggtgagggtccccagacc	8	6	13	14	2	0	2	0	1	0	1	2	2	2	2	5	3	3	2	5	3	1	0			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr14:105174336C>T	uc001ypb.2	+	7	1875	c.1732C>T	c.(1732-1734)Cgt>Tgt	p.R578C	INF2_uc001ypc.2_Missense_Mutation_p.R578C|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	578	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CAACGTGGCACGTGGTGAGGG	0.647													10	25					0	0	1	0	0	T	105174336	C	T	105174336	3	4	87	1	0	0	0	0	1	0	0	0	7734	536	19	1	1762	1	INF2	14	105174336	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	66449900	105174336	2175204	42	3827											
VPS13C	54832	broad.mit.edu	37	chr15	62238562	62238562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tataatatctttaagtctggCaaacacatcagtctgcttag	13	14	6	8	0	4	0	1	0	3	0	4	0	4	0	0	1	2	2	0	1	6	6			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr15:62238562C>T	uc002agz.3	-	43	5015	c.4924G>A	c.(4924-4926)Gcc>Acc	p.A1642T	VPS13C_uc002aha.3_Missense_Mutation_p.A1599T|VPS13C_uc002ahb.2_Missense_Mutation_p.A1642T|VPS13C_uc002ahc.2_Missense_Mutation_p.A1599T	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	1642					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTAAGTCTGGCAAACACATCA	0.318													5	22					0	0	1	0	0	T	62238562	C	T	62238562	3	4	87	1	0	0	0	0	1	0	0	0	17188	710	25	3	6533	3	VPS13C	15	62238562	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08		62238562	40292830	43	3828											
MFGE8	4240	broad.mit.edu	37	chr15	89453060	89453060	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcgtagcccttaaggcaCgtgcaggtgtacgaggggaa	9	6	15	11	4	0	0	0	0	0	0	0	2	0	1	2	4	3	4	2	4	4	3	rs138080885	byFrequency	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr15:89453060C>T	uc002bng.4	-	1	281	c.168G>A	c.(166-168)acG>acA	p.T56T	MFGE8_uc002bnf.4_5'UTR|MFGE8_uc002bnh.4_Silent_p.T56T|MFGE8_uc010bnn.3_Silent_p.T48T|MFGE8_uc010upq.2_Intron|MFGE8_uc010bno.3_Intron	NM_005928	NP_005919	Q08431	MFGM_HUMAN	Homo sapiens milk fat globule-EGF factor 8 protein (MFGE8), transcript variant 1, mRNA.	56	EGF-like.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					CCTTAAGGCACGTGCAGGTGT	0.557													21	82					0	0	1	0	0	T	89453060	C	T	89453060	2	4	87	1	0	0	0	0	0	0	0	1	9520	523	19	1		1	MFGE8	15	89453060	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08	27214498	89453060	13078332	44	3829											
RGS11	8786	broad.mit.edu	37	chr16	321439	321439	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcactcgggtcctgcccagCgctttcctgaagtactcgat	6	12	9	14	3	1	1	1	1	0	0	5	2	3	1	3	1	3	2	3	1	2	3			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr16:321439C>T	uc002cgj.1	-	10	711	c.708G>A	c.(706-708)gcG>gcA	p.A236A	LUC7L_uc021szo.1_Intron|RGS11_uc002cgi.1_Silent_p.A215A|RGS11_uc010bqs.1_Silent_p.A225A|RGS11_uc002cgk.1_Silent_p.A52A	NM_183337	NP_003825	O94810	RGS11_HUMAN	Homo sapiens regulator of G-protein signaling 11 (RGS11), transcript variant 1, mRNA.	236	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TCCTGCCCAGCGCTTTCCTGA	0.647													9	44					0	0	1	0	0	T	321439	C	T	321439	2	4	87	1	0	0	0	0	0	0	0	1	13294	755	27	1		1	RGS11	16	321439	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08		321439	90033314	45	3830											
C16orf88	400506	broad.mit.edu	37	chr16	19726120	19726120	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtctcaggttctacatgctCctcgcaaagggtgctgacac	8	10	11	12	1	2	1	1	1	2	0	5	1	3	1	1	3	3	4	1	3	2	2			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr16:19726120C>A	uc002dgq.3	-	1	253	c.238G>T	c.(238-240)Gag>Tag	p.E80*	IQCK_uc002dgr.3_5'Flank|IQCK_uc002dgs.3_5'Flank|IQCK_uc010vat.2_5'Flank|IQCK_uc010bwc.3_5'Flank|IQCK_uc010vau.2_5'Flank	NM_001012991	NP_001013009	Q1ED39	CP088_HUMAN	Homo sapiens chromosome 16 open reading frame 88 (C16orf88), mRNA.	80	Lys-rich.					nucleolus				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	13						TCTACATGCTCCTCGCAAAGG	0.542													13	51					0.0167234	0.0167234	1	1	0	A	19726120	C	A	19726120	4	1	87	1	0	0	0	0	0	1	0	0	1841	864	30	5	1154	5	C16orf88	16	19726120	Nonsense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	19404681	19726120	70628633	46	3831											
POLR2C	5432	broad.mit.edu	37	chr16	57504027	57504027	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggcacacagtgtacccCaagcccgaggaatggtatgt	11	7	12	11	1	0	1	0	1	0	0	0	3	0	2	3	3	2	3	3	3	4	2			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr16:57504027C>T	uc002elt.1	+	6	680	c.594C>T	c.(592-594)ccC>ccT	p.P198P		NM_032940	NP_116558	P19387	RPB3_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide C, 33kDa (POLR2C), mRNA.	198					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						CAGTGTACCCCAAGCCCGAGG	0.537													13	17					0	0	1	0	0	T	57504027	C	T	57504027	2	4	87	1	0	0	0	0	0	0	0	1	12216	581	21	3		3	POLR2C	16	57504027	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08	37777907	57504027	32850726	47	3832											
MYOCD	93649	broad.mit.edu	37	chr17	12655924	12655924	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtcttcctcttctaccaGtgccctgtccaacggcttct	5	13	6	17	1	4	0	0	0	4	0	6	0	6	0	5	1	3	1	5	1	2	4			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr17:12655924G>C	uc002gno.2	+	9	1618	c.1319G>C	c.(1318-1320)aGt>aCt	p.S440T	MYOCD_uc002gnn.2_Missense_Mutation_p.S440T|MYOCD_uc002gnp.1_Missense_Mutation_p.S344T|MYOCD_uc002gnq.2_Missense_Mutation_p.S159T	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	440	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TCTTCTACCAGTGCCCTGTCC	0.587													34	95					0	0	1	0	0	C	12655924	G	C	12655924	3	2	87	1	0	0	0	0	1	0	0	0	10087	1029	36	5	1357	5	MYOCD	17	12655924	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08		12655924	68539286	48	3833											
GPR179	440435	broad.mit.edu	37	chr17	36487200	36487200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagctgaggagccggcggCgggaggagccgggcaggctg	6	3	23	9	4	0	1	0	1	0	0	0	5	0	5	2	8	3	3	2	8	0	0			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr17:36487200C>T	uc002hpz.3	-	10	2273	c.2252G>A	c.(2251-2253)cGc>cAc	p.R751H		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	751						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GAGCCGGCGGCGGGAGGAGCC	0.697													5	15					0	0	1	0	0	T	36487200	C	T	36487200	3	4	87	1	0	0	0	0	1	0	0	0	6674	768	27	1	4855	1	GPR179	17	36487200	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	23831276	36487200	44708010	49	3834											
NFATC1	4772	broad.mit.edu	37	chr18	77170697	77170697	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttccacgatgtggaggTggaagacgtcctccctagct	7	12	12	10	2	0	1	0	0	0	1	3	4	3	3	3	3	1	2	3	3	2	3			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr18:77170697T>A	uc010xfg.2	+	1	875	c.422T>A	c.(421-423)gTg>gAg	p.V141E	NFATC1_uc002lnc.1_Missense_Mutation_p.V141E|NFATC1_uc010xff.1_Missense_Mutation_p.V141E|NFATC1_uc002lnd.3_Missense_Mutation_p.V141E|NFATC1_uc002lne.3_Intron|NFATC1_uc010xfh.2_Missense_Mutation_p.V141E|NFATC1_uc010xfi.1_Missense_Mutation_p.V128E|NFATC1_uc010xfj.2_Intron|NFATC1_uc002lnf.3_Missense_Mutation_p.V128E|NFATC1_uc002lng.3_Missense_Mutation_p.V128E|NFATC1_uc010xfk.2_Missense_Mutation_p.V128E	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	141	Trans-activation domain A (TAD-A).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GATGTGGAGGTGGAAGACGTC	0.627													9	22					0	0	1	0	0	A	77170697	T	A	77170697	3	1	87	1	0	0	0	0	1	0	0	0	10361	1696	59	5	520	5	NFATC1	18	77170697	Missense_Mutation	SNP	T	TCGA-DU-7012-01A-11D-2024-08		77170697	906551	50	3835											
FBN3	84467	broad.mit.edu	37	chr19	8191627	8191627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtaccagaggggtccagccGgctgccagggccacatttgc	7	6	15	13	1	0	1	0	0	0	1	1	1	1	1	5	5	4	2	5	5	1	2	rs113517176		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:8191627G>A	uc002mjf.3	-	17	2403	c.2386C>T	c.(2386-2388)Cgg>Tgg	p.R796W		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	796	EGF-like 10; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGGTCCAGCCGGCTGCCAGGG	0.657													15	36					0	0	1	0	0	A	8191627	G	A	8191627	3	1	87	1	0	0	0	0	1	0	0	0	5704	1115	39	2	6227	2	FBN3	19	8191627	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08		8191627	50937356	51	3836											
CACNA1A	773	broad.mit.edu	37	chr19	13565980	13565980	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgctccagtgcgaggaCgatgcaattcgctatgatgg	9	10	13	9	3	0	1	0	1	0	0	2	4	1	2	1	2	4	4	1	2	2	2			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:13565980C>T	uc002mwy.3	-	1	576	c.340G>A	c.(340-342)Gtc>Atc	p.V114I	CACNA1A_uc010xnd.2_Missense_Mutation_p.V114I|CACNA1A_uc021ups.1_Missense_Mutation_p.V114I|CACNA1A_uc010xne.2_Missense_Mutation_p.V114I|CACNA1A_uc010dze.2_Missense_Mutation_p.V114I|CACNA1A_uc021upt.1_Missense_Mutation_p.V114I	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	114					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AGTGCGAGGACGATGCAATTC	0.453													43	116					0	0	1	0	0	T	13565980	C	T	13565980	3	4	87	1	0	0	0	0	1	0	0	0	2538	536	19	1	7478	1	CACNA1A	19	13565980	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	5374353	13565980	45563003	52	3837											
CILP2	148113	broad.mit.edu	37	chr19	19655450	19655450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagagcggcttccggcGcgaggggtcctcgggccccc	4	4	19	14	5	0	1	0	0	0	1	3	4	2	2	4	7	1	1	4	7	0	1			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:19655450G>A	uc002nmw.4	+	7	2199	c.2114G>A	c.(2113-2115)cGc>cAc	p.R705H	CILP2_uc002nmv.4_Missense_Mutation_p.R699H	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	699						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GGCTTCCGGCGCGAGGGGTCC	0.706													3	7					0	0	1	0	0	A	19655450	G	A	19655450	3	1	87	1	0	0	0	0	1	0	0	0	3430	1087	38	1	2126	1	CILP2	19	19655450	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08	6089470	19655450	39473533	53	3838											
FFAR3	2865	broad.mit.edu	37	chr19	35862414	35862414	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgcccggtggccgtggaCgtgctcctgctcaacctgac	4	8	13	16	4	1	1	1	1	0	0	2	2	2	2	5	3	4	2	5	3	1	0			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:35862414C>T	uc021usn.1	+	0	158	c.153C>T	c.(151-153)gaC>gaT	p.D51D		NM_005304	NP_005295	O14843	FFAR3_HUMAN	Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA.	51						integral to plasma membrane	G-protein coupled receptor activity|lipid binding	p.D51D(1)		endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TGGCCGTGGACGTGCTCCTGC	0.662													29	29					0	0	1	0	0	T	35862414	C	T	35862414	2	4	87	1	0	0	0	0	0	0	0	1	5829	551	19	1		1	FFAR3	19	35862414	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08	16206964	35862414	23266569	54	3839											
SHKBP1	92799	broad.mit.edu	37	chr19	41096328	41096328	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggcctcggccaggcccctGgtactccctgccccacccca	5	5	9	22	2	0	0	0	0	0	0	2	0	1	0	9	4	2	1	9	4	1	1			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:41096328G>A	uc002oob.3	+	16	1817	c.1768_splice	c.e16+1	p.A590_splice	SHKBP1_uc002ooc.3_Splice_Site_p.A565_splice|SHKBP1_uc010xvl.1_Splice_Site|SHKBP1_uc002ooe.3_Splice_Site_p.A427_splice|SHKBP1_uc010xvm.2_Splice_Site_p.A370_splice|SHKBP1_uc010xvn.2_Splice_Site_p.A468_splice|LTBP4_uc002oog.1_5'Flank	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA.	590						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCAGGCCCCTGGTACTCCCTG	0.682													7	22					0	0	1	0	0	A	41096328	G	A	41096328	5	1	87	1	0	0	0	0	0	0	1	0	14284	1362	47	3	1830	3	SHKBP1	19	41096328	Splice_Site	SNP	G	TCGA-DU-7012-01A-11D-2024-08	5233914	41096328	18032655	55	3840											
SLC8A2	6543	broad.mit.edu	37	chr19	47935602	47935602	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcggtggggggcacacaggcGaagagcaccttccagaacac	11	4	14	12	2	0	2	0	0	0	2	2	3	1	2	2	5	2	2	2	5	2	1			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:47935602G>A	uc010ele.3	-	7	2227	c.2211C>T	c.(2209-2211)ttC>ttT	p.F737F	SLC8A2_uc002pgx.3_Silent_p.F737F|SLC8A2_uc010xyq.2_Silent_p.F493F|SLC8A2_uc010xyr.2_Silent_p.F200F			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	737					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GCACACAGGCGAAGAGCACCT	0.652													26	76					0	0	1	0	0	A	47935602	G	A	47935602	2	1	87	1	0	0	0	0	0	0	0	1	14707	1049	37	2		2	SLC8A2	19	47935602	Silent	SNP	G	TCGA-DU-7012-01A-11D-2024-08	6839274	47935602	11193381	56	3841											
CCDC114	93233	broad.mit.edu	37	chr19	48800756	48800756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctggcgctgcgcctccGcctgctcctggagctccacc	2	9	10	20	3	1	0	0	0	1	0	4	1	4	1	7	2	3	3	7	2	0	1			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:48800756G>A	uc002pir.2	-	13	2173	c.1490C>T	c.(1489-1491)gCg>gTg	p.A497V	CCDC114_uc002piq.2_Missense_Mutation_p.A306V|CCDC114_uc002pio.3_Missense_Mutation_p.R558W	NM_144577	NP_653178	Q96M63	CC114_HUMAN	Homo sapiens coiled-coil domain containing 114 (CCDC114), transcript variant 2, mRNA.	497										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CTGCGCCTCCGCCTGCTCCTG	0.721													5	23					0	0	1	0	0	A	48800756	G	A	48800756	3	1	87	1	0	0	0	0	1	0	0	0	2751	1087	38	1	526	1	CCDC114	19	48800756	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08	865154	48800756	10328227	57	3842											
KLK8	11202	broad.mit.edu	37	chr19	51499377	51499377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcagatgttggtatagaCgccaggtttgtcggacctcc	7	10	14	10	3	0	2	0	0	0	2	2	3	1	3	3	4	0	4	3	4	2	4	rs56296296	byFrequency	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:51499377C>T	uc002puq.1	-	5	1042	c.856G>A	c.(856-858)Gtc>Atc	p.V286I	KLK8_uc002pur.1_Missense_Mutation_p.V241I|KLK8_uc002pus.1_Missense_Mutation_p.V100I|KLK8_uc002put.1_3'UTR|KLK8_uc002puu.1_Missense_Mutation_p.V241I|KLK8_uc002puv.1_Non-coding_Transcript	NM_144505	NP_653088	O60259	KLK8_HUMAN	Homo sapiens kallikrein-related peptidase 8 (KLK8), transcript variant 2, mRNA.	241					cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	p.V286I(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		TTGGTATAGACGCCAGGTTTG	0.542													41	133					0	0	1	0	0	T	51499377	C	T	51499377	3	4	87	1	0	0	0	0	1	0	0	0	8410	536	19	1	65	1	KLK8	19	51499377	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	2698621	51499377	7629606	58	3843											
PEG3	5178	broad.mit.edu	37	chr19	57327274	57327274	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caattcatttccattgtgacTtcttggaggtttggaagcca	9	15	9	8	0	2	1	1	1	1	0	3	3	3	3	2	3	1	1	2	3	2	6			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:57327274T>C	uc002qnu.2	-	6	2887	c.2536A>G	c.(2536-2538)Agt>Ggt	p.S846G	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.S817G|PEG3_uc002qnv.2_Missense_Mutation_p.S846G|PEG3_uc002qnw.2_Missense_Mutation_p.S722G|PEG3_uc002qnx.2_Missense_Mutation_p.S720G|PEG3_uc010etr.2_Missense_Mutation_p.S846G	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	846					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S846G(3)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCATTGTGACTTCTTGGAGGT	0.433													23	50					0	0	1	0	0	C	57327274	T	C	57327274	3	2	87	1	0	0	0	0	1	0	0	0	11720	1609	56	4	2234	4	PEG3	19	57327274	Missense_Mutation	SNP	T	TCGA-DU-7012-01A-11D-2024-08	5827897	57327274	1801709	59	3844											
WISP2	8839	broad.mit.edu	37	chr20	43355905	43355905	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgcctgtccaggccctGcccaccctccaggggtcgca	4	7	11	19	1	0	0	0	0	0	0	3	0	2	0	7	3	2	1	7	3	0	0			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr20:43355905G>C	uc002xmp.3	+	3	857	c.710G>C	c.(709-711)tGc>tCc	p.C237S	LOC79015_uc002xml.1_Intron|WISP2_uc002xmq.3_Missense_Mutation_p.A155P	NM_003881	NP_003872	O76076	WISP2_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 2 (WISP2), mRNA.	237	TSP type-1.				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				TCCAGGCCCTGCCCACCCTCC	0.677													12	38					0	0	1	0	0	C	43355905	G	C	43355905	3	2	87	1	0	0	0	0	1	0	0	0	17370	1319	46	5	724	5	WISP2	20	43355905	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08		43355905	19669615	60	3845											
KCNB1	3745	broad.mit.edu	37	chr20	47989555	47989555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgtgcttccatgggctcCtccccctggcaacacacgga	6	9	10	16	2	0	0	0	0	0	0	4	1	3	1	4	3	2	3	4	3	1	1			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr20:47989555C>T	uc002xur.1	-	1	2708	c.2542G>A	c.(2542-2544)Gga>Aga	p.G848R	KCNB1_uc002xus.1_Missense_Mutation_p.G848R	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	848					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCATGGGCTCCTCCCCCTGGC	0.537													11	33					0	0	1	0	0	T	47989555	C	T	47989555	3	4	87	1	0	0	0	0	1	0	0	0	8012	690	24	3	38	3	KCNB1	20	47989555	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	4633650	47989555	15035965	61	3846											
COL20A1	57642	broad.mit.edu	37	chr20	61951525	61951525	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggaggctggccaaggccagGggcccccggagcagttcggc	6	3	19	13	2	0	0	0	0	0	0	1	2	0	2	4	8	1	3	4	8	1	1			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr20:61951525G>A	uc011aau.2	+	23	3151	c.3051G>A	c.(3049-3051)agG>agA	p.R1017R	COL20A1_uc011aav.2_Silent_p.R838R	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	1017	TSP N-terminal.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCAAGGCCAGGGGCCCCCGGA	0.736													7	14					0	0	1	0	0	A	61951525	G	A	61951525	2	1	87	1	0	0	0	0	0	0	0	1	3679	1223	43	3		3	COL20A1	20	61951525	Silent	SNP	G	TCGA-DU-7012-01A-11D-2024-08	13961970	61951525	1073995	62	3847											
ZNF280B	140883	broad.mit.edu	37	chr22	22843526	22843526	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctccttgaccatgaaccCggggtgactctgttcaaaat	9	13	8	11	1	3	3	1	3	2	0	4	3	3	3	3	2	1	1	3	2	3	3			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr22:22843526C>T	uc002zwc.1	-	3	974	c.198G>A	c.(196-198)ccG>ccA	p.P66P	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280B_uc021wmn.1_Silent_p.P66P	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN	Homo sapiens zinc finger protein 280B (ZNF280B), mRNA.	66					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ACCATGAACCCGGGGTGACTC	0.408													14	78					0	0	1	0	0	T	22843526	C	T	22843526	2	4	87	1	0	0	0	0	0	0	0	1	17812	639	23	2		2	ZNF280B	22	22843526	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08		22843526	28461040	63	3848											
SLC5A1	6523	broad.mit.edu	37	chr22	32487648	32487648	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggcctccctcatgagctcCctgacctccatcttcaacag	7	10	6	18	0	3	2	2	2	1	0	6	2	6	2	5	1	2	1	5	1	1	1			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr22:32487648C>T	uc003amc.3	+	10	1429	c.1179C>T	c.(1177-1179)tcC>tcT	p.S393S	SLC5A1_uc011alz.2_Silent_p.S266S	NM_000343	NP_000334	P13866	SC5A1_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.	393					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						TCATGAGCTCCCTGACCTCCA	0.527													24	76					0	0	1	0	0	T	32487648	C	T	32487648	2	4	87	1	0	0	0	0	0	0	0	1	14661	610	22	3		3	SLC5A1	22	32487648	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08	9644122	32487648	18816918	64	3849											
CCDC134	79879	broad.mit.edu	37	chr22	42221755	42221755	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgagagaagaagagaaacgCcgaaagaaagaggagaagcg	20	1	15	5	3	0	7	0	1	0	6	0	11	0	7	1	1	2	0	1	1	6	0			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr22:42221755C>A	uc003bbh.1	+	6	727	c.618C>A	c.(616-618)cgC>cgA	p.R206R	bK250D10.C22.8_uc003bba.1_Intron|CCDC134_uc011apg.1_Silent_p.R93R|DQ596940_uc011aph.1_5'Flank	NM_024821	NP_079097	Q9H6E4	CC134_HUMAN	Homo sapiens coiled-coil domain containing 134 (CCDC134), mRNA.	206	Arg/Glu/Lys-rich (mixed charge).					extracellular region				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						AAGAGAAACGCCGAAAGAAAG	0.532													18	50					3.52763e-06	3.69364e-06	1	1	0	A	42221755	C	A	42221755	2	1	87	1	0	0	0	0	0	0	0	1	2768	726	26	5		5	CCDC134	22	42221755	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08	9734107	42221755	9082811	65	3850											
GATA1	2623	broad.mit.edu	37	chrX	48650342	48650342	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacggcaagacggggctctaCcctgcctcaactgtgtgtcc	7	9	11	14	2	2	1	1	0	1	1	3	1	3	1	3	3	4	2	3	3	4	2			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:48650342C>T	uc004dkq.4	+	2	403	c.312C>T	c.(310-312)taC>taT	p.Y104Y		NM_002049	NP_002040	P15976	GATA1_HUMAN	Homo sapiens GATA binding protein 1 (globin transcription factor 1) (GATA1), mRNA.	104					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V77_A120>A(2)|p.?(2)|p.V74_C199del(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						CGGGGCTCTACCCTGCCTCAA	0.597			"Mis, F"		megakaryoblastic leukemia of Downs Syndrome								12	51					0	0	1	0	0	T	48650342	C	T	48650342	2	4	87	1	0	0	0	0	0	0	0	1	6253	518	18	3		3	GATA1	23	48650342	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08		48650342	106620218	66	3851											
HUWE1	10075	broad.mit.edu	37	chrX	53654434	53654434	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctttggcttgatcacaaaCggacattcttttcggcacaa	11	13	7	10	2	3	1	1	1	2	0	4	2	3	2	0	3	1	2	0	3	2	5	rs145017919	byFrequency	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:53654434C>T	uc004dsp.3	-	16	1818	c.1416G>A	c.(1414-1416)ccG>ccA	p.P472P		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	472					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGATCACAAACGGACATTCTT	0.318													21	80					0	0	1	0	0	T	53654434	C	T	53654434	2	4	87	1	0	0	0	0	0	0	0	1	7461	523	19	1		1	HUWE1	23	53654434	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08	5004092	53654434	101616126	67	3852											
SLC7A3	84889	broad.mit.edu	37	chrX	70148064	70148064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctccacggagaattccctCgaagccgaaaggcacaaatc	13	6	9	13	3	0	1	0	0	0	1	4	4	2	1	3	2	2	2	3	2	4	1			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:70148064C>T	uc004dyn.3	-	4	925	c.751G>A	c.(751-753)Gag>Aag	p.E251K	SLC7A3_uc004dyo.3_Missense_Mutation_p.E251K	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA.	251					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGAATTCCCTCGAAGCCGAAA	0.498													4	26					0	0	1	0	0	T	70148064	C	T	70148064	3	4	87	1	0	0	0	0	1	0	0	0	14698	893	31	2	1140	2	SLC7A3	23	70148064	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	16493630	70148064	85122496	68	3853											
TCEAL3	85012	broad.mit.edu	37	chrX	102864217	102864217	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggcaggtccgaaggtgaGggcaagccacaaggcgaggg	11	2	19	9	2	0	1	0	1	0	0	1	3	1	1	2	6	1	2	2	6	3	0			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:102864217G>A	uc022cbu.1	+	0	225	c.225G>A	c.(223-225)gaG>gaA	p.E75E	TCEAL3_uc004ekq.3_Silent_p.E75E|TCEAL3_uc004ekr.3_Silent_p.E75E	NM_032926	NP_116315	Q969E4	TCAL3_HUMAN	Homo sapiens transcription elongation factor A (SII)-like 3 (TCEAL3), transcript variant 2, mRNA.	75	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						CCGAAGGTGAGGGCAAGCCAC	0.622													44	159					0	0	1	0	0	A	102864217	G	A	102864217	2	1	87	1	0	0	0	0	0	0	0	1	15669	991	35	3		3	TCEAL3	23	102864217	Silent	SNP	G	TCGA-DU-7012-01A-11D-2024-08	32716153	102864217	52406343	69	3854											
PNMA3	29944	broad.mit.edu	37	chrX	152226634	152226634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctctcgaggctcaagaaaaCggaaacgccacacattctgc	13	6	9	13	3	3	1	1	0	2	1	4	3	3	2	1	2	3	2	1	2	4	1	rs148950007	byFrequency	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:152226634C>T	uc022cho.1	+	0	1222	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	PNMA3_uc004fhc.2_Missense_Mutation_p.R408W|PNMA3_uc004fhd.3_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	Homo sapiens paraneoplastic antigen MA3 (PNMA3), mRNA.	408	Arg-rich.				apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					CTCAAGAAAACGGAAACGCCA	0.577													37	107					0	0	1	0	0	T	152226634	C	T	152226634	3	4	87	1	0	0	0	0	1	0	0	0	12155	527	19	1	1224	1	PNMA3	23	152226634	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	49362417	152226634	3043926	70	3855											
FLNA	2316	broad.mit.edu	37	chrX	153588484	153588484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgacggtgtaggcccCggggcagaggggaatgtagg	8	6	21	6	2	0	2	0	1	0	1	0	4	0	3	2	8	0	3	2	8	3	2			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:153588484C>T	uc004fkk.2	-	21	3928	c.3679G>A	c.(3679-3681)Ggg>Agg	p.G1227R	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.G1227R	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1227					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGTAGGCCCCGGGGCAGAGG	0.637													13	76					0	0	1	0	0	T	153588484	C	T	153588484	3	4	87	1	0	0	0	0	1	0	0	0	5933	652	23	2	4372	2	FLNA	23	153588484	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	1361850	153588484	1682076	71	3856											
IL9R	3581	broad.mit.edu	37	chrX	155239557	155239557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccacagggagccttggagcCctgcgtccaggaggccactg	7	5	14	15	1	0	0	0	0	0	0	1	3	1	3	5	4	3	0	5	4	0	1			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:155239557C>T	uc004fnv.1	+	8	1228	c.1049C>T	c.(1048-1050)cCc>cTc	p.P350L	IL9R_uc004fnu.1_3'UTR	NM_002186	NP_002177	Q01113	IL9R_HUMAN	Homo sapiens interleukin 9 receptor (IL9R), transcript variant 1, mRNA.	350					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCCTTGGAGCCCTGCGTCCAG	0.672													9	14					0	0	1	0	0	T	155239557	C	T	155239557	3	4	87	1	0	0	0	0	1	0	0	0	7708	623	22	3	1083	3	IL9R	23	155239557	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	1651073	155239557	31003	72	3857											
KCNH1	3756	broad.mit.edu	37	chr1	210856965	210856965	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccactgtcacacgagtctgtCttcttcagtgtggcctcgcc	5	12	9	15	2	5	0	2	0	3	0	6	1	5	0	3	1	0	0	3	1	0	2			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr1:210856965C>G	uc001hib.2	-	10	2798	c.2628G>C	c.(2626-2628)aaG>aaC	p.K876N	KCNH1_uc001hic.2_Missense_Mutation_p.K849N	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	876					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ACGAGTCTGTCTTCTTCAGTG	0.592													24	49					0	0	1	0	0	G	210856965	C	G	210856965	3	3	88	1	0	0	0	0	1	0	0	0	8031	912	32	5	345	5	KCNH1	1	210856965	Missense_Mutation	SNP	C	TCGA-DU-7013-01A-11D-2024-08		210856965	38393656	1	3858											
MYT1L	23040	broad.mit.edu	37	chr2	1843079	1843079	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaaggggcacccggaggcGctgcgatgggacgcgtactt	7	5	17	12	5	0	0	0	0	0	0	0	3	0	2	2	5	2	3	2	5	2	2			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr2:1843079G>A	uc002qxe.3	-	20	3749	c.2922C>T	c.(2920-2922)agC>agT	p.S974S	MYT1L_uc002qxd.3_Silent_p.S972S|MYT1L_uc010ewk.3_5'UTR	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	974					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACCCGGAGGCGCTGCGATGGG	0.632													29	37					0	0	1	0	0	A	1843079	G	A	1843079	2	1	88	1	0	0	0	0	0	0	0	1	10107	1078	38	1		1	MYT1L	2	1843079	Silent	SNP	G	TCGA-DU-7013-01A-11D-2024-08		1843079	241356294	2	3859											
NLRC4	58484	broad.mit.edu	37	chr2	32476671	32476671	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtctgatgaaaaagacCtattagagaagaggtgatgt	15	11	12	3	0	1	7	0	4	1	3	1	8	1	7	1	1	0	0	1	1	5	2			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr2:32476671C>T	uc002roi.3	-	4	524	c.263_splice	c.e4-1	p.S88_splice	NLRC4_uc021vfq.1_Splice_Site_p.S88_splice|NLRC4_uc002roj.2_Splice_Site_p.S88_splice|NLRC4_uc010ezt.2_Intron	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	88	CARD.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGAAAAAGACCTATTAGAGAA	0.448													22	27					0	0	1	0	0	T	32476671	C	T	32476671	5	4	88	1	0	0	0	0	0	0	1	0	10469	695	24	3	2836	3	NLRC4	2	32476671	Splice_Site	SNP	C	TCGA-DU-7013-01A-11D-2024-08	30633592	32476671	210722702	3	3860											
EDAR	10913	broad.mit.edu	37	chr2	109527457	109527457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgatgatgaggacgatggCgatggccatgatgaagatgg	12	8	16	5	2	0	6	0	5	0	1	0	9	0	7	1	4	0	0	1	4	1	0			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr2:109527457C>T	uc010fjn.3	-	7	1148	c.601G>A	c.(601-603)Gcc>Acc	p.A201T	EDAR_uc010yws.2_Missense_Mutation_p.A201T|EDAR_uc002teq.4_Missense_Mutation_p.A201T	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	201					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						aggacgatggcgatggccatg	0.577													16	21					0	0	1	0	0	T	109527457	C	T	109527457	3	4	88	1	0	0	0	0	1	0	0	0	4905	768	27	1	769	1	EDAR	2	109527457	Missense_Mutation	SNP	C	TCGA-DU-7013-01A-11D-2024-08	77050786	109527457	133671916	4	3861											
LCT	3938	broad.mit.edu	37	chr2	136566631	136566631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgggctttgatgacggCgtgggctatcctatatggtg	6	12	16	7	2	0	2	0	2	0	0	1	2	1	2	1	5	0	3	1	5	3	4	rs146467199	byFrequency	TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr2:136566631C>T	uc002tuu.1	-	7	3297	c.3286G>A	c.(3286-3288)Gcc>Acc	p.A1096T		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1096	4 X approximate repeats.			A -> T (in Ref. 1; CAA30801).	carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	p.A1096A(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTGATGACGGCGTGGGCTATC	0.552													18	29					0	0	1	0	0	T	136566631	C	T	136566631	3	4	88	1	0	0	0	0	1	0	0	0	8693	768	27	1	2537	1	LCT	2	136566631	Missense_Mutation	SNP	C	TCGA-DU-7013-01A-11D-2024-08	27039174	136566631	106632742	5	3862											
PDE11A	50940	broad.mit.edu	37	chr2	178682596	178682596	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttcttacctcaaaaagtcGttgatctgcatcatcaaaag	13	14	5	9	1	5	1	3	1	2	0	6	1	5	1	1	0	2	2	1	0	5	4			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr2:178682596G>A	uc002ulq.3	-	7	1951	c.1633C>T	c.(1633-1635)Cga>Tga	p.R545*	PDE11A_uc002ulp.3_Nonsense_Mutation_p.R101*|PDE11A_uc002ulr.3_Nonsense_Mutation_p.R295*|PDE11A_uc002uls.1_Nonsense_Mutation_p.R187*|PDE11A_uc002ult.1_Nonsense_Mutation_p.R295*|PDE11A_uc002ulu.1_Nonsense_Mutation_p.R187*	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	545	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TCAAAAAGTCGTTGATCTGCA	0.378									Primary Pigmented Nodular Adrenocortical Disease, Familial				20	9					0	0	1	0	0	A	178682596	G	A	178682596	4	1	88	1	0	0	0	0	0	1	0	0	11631	1153	40	1	1220	1	PDE11A	2	178682596	Nonsense_Mutation	SNP	G	TCGA-DU-7013-01A-11D-2024-08	42115965	178682596	64516777	6	3863											
FGD5	152273	broad.mit.edu	37	chr3	14861759	14861759	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccatggtgggggctttgtGtggccagtgtggctccctac	3	11	15	12	0	0	0	0	0	0	0	1	0	1	0	4	5	1	2	4	5	1	2			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr3:14861759G>C	uc003bzc.3	+	0	1291	c.1181G>C	c.(1180-1182)tGt>tCt	p.C394S	FGD5_uc011avk.2_Missense_Mutation_p.C394S	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	394					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GGGGCTTTGTGTGGCCAGTGT	0.617													17	22					0	0	1	0	0	C	14861759	G	C	14861759	3	2	88	1	0	0	0	0	1	0	0	0	5836	1377	48	5	1183	5	FGD5	3	14861759	Missense_Mutation	SNP	G	TCGA-DU-7013-01A-11D-2024-08		14861759	183160671	7	3864											
DNAH1	25981	broad.mit.edu	37	chr3	52428569	52428569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgtcagaccgggcttggcGagacatcctagcactctcga	8	8	12	13	3	2	2	1	0	1	2	4	4	3	2	2	2	1	3	2	2	1	2			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr3:52428569G>A	uc011bef.2	+	66	10976	c.10715G>A	c.(10714-10716)cGa>cAa	p.R3572Q	DNAH1_uc003ddv.3_Missense_Mutation_p.R430Q	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	3637					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CGGGCTTGGCGAGACATCCTA	0.577													20	36					0	0	1	0	0	A	52428569	G	A	52428569	3	1	88	1	0	0	0	0	1	0	0	0	4597	1058	37	2	10977	2	DNAH1	3	52428569	Missense_Mutation	SNP	G	TCGA-DU-7013-01A-11D-2024-08	37566810	52428569	145593861	8	3865											
TMPRSS11F	389208	broad.mit.edu	37	chr4	68925146	68925146	+	Frame_Shift_Del	DEL	G	G	-																															ttacacacatcagtgcttatGgtttccactctggcttgccg																										TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr4:68925146delG	uc003hdt.1	-	8	1105	c.1056delC	c.(1054-1056)accfs	p.T352fs	LOC550112_uc003hdl.4_Intron|BC041902_uc011cak.2_Intron	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	Homo sapiens transmembrane protease, serine 11F (TMPRSS11F), mRNA.	352	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						CAGTGCTTATGGTTTCCACTC	0.363													21	30	---	---	---	---						-	68925146	G	-	68925146	7	5	88	1	0	1	0	1	0	0	0	0	16240	1335	47	0	268	0	TMPRSS11F	4	68925146	Frame_Shift_Del	DEL	G	TCGA-DU-7013-01A-11D-2024-08		68925146	122229130	9	3866											
GK2	2712	broad.mit.edu	37	chr4	80327904	80327904	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtggttcaaatcgttccAtcctgagaactgacaaagcc	11	11	8	11	1	2	2	1	2	1	1	5	3	4	2	3	1	2	2	3	1	3	2			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr4:80327904A>G	uc003hlu.3	-	0	1469	c.1451T>C	c.(1450-1452)aTg>aCg	p.M484T		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	484					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AAATCGTTCCATCCTGAGAAC	0.507													53	63					0	0	1	0	0	G	80327904	A	G	80327904	3	3	88	1	0	0	0	0	1	0	0	0	6421	217	8	3	214	3	GK2	4	80327904	Missense_Mutation	SNP	A	TCGA-DU-7013-01A-11D-2024-08	11402758	80327904	110826372	10	3867											
ADH1A	124	broad.mit.edu	37	chr4	100205899	100205899	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagcagtagttgctctcCgggtttttacaaattctgca	9	15	8	9	1	3	0	1	0	2	0	4	0	3	0	1	1	4	6	1	1	4	7			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr4:100205899C>T	uc003hur.2	-	3	435	c.321G>A	c.(319-321)ccG>ccA	p.P107P	LOC100507053_uc003hum.2_Intron|ADH1A_uc010ilf.1_5'Flank|ADH1A_uc010ilg.2_Silent_p.P107P	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	107					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	AGTTGCTCTCCGGGTTTTTAC	0.418													18	26					0	0	1	0	0	T	100205899	C	T	100205899	2	4	88	1	0	0	0	0	0	0	0	1	307	639	23	2		2	ADH1A	4	100205899	Silent	SNP	C	TCGA-DU-7013-01A-11D-2024-08	19877995	100205899	90948377	11	3868											
NDST3	9348	broad.mit.edu	37	chr4	118975505	118975505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatatggattcctggaatcGaagccttctagataaatact	15	12	7	7	1	1	1	0	0	1	1	3	4	2	3	2	2	2	0	2	2	8	6			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr4:118975505G>A	uc003ibx.3	+	1	843	c.440G>A	c.(439-441)cGa>cAa	p.R147Q	NDST3_uc011cgf.1_Missense_Mutation_p.R147Q|NDST3_uc003ibw.3_Missense_Mutation_p.R147Q	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	147	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TCCTGGAATCGAAGCCTTCTA	0.343													15	20					0	0	1	0	0	A	118975505	G	A	118975505	3	1	88	1	0	0	0	0	1	0	0	0	10257	1058	37	2	442	2	NDST3	4	118975505	Missense_Mutation	SNP	G	TCGA-DU-7013-01A-11D-2024-08	18769606	118975505	72178771	12	3869											
FGA	2243	broad.mit.edu	37	chr4	155507658	155507658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcccagagctcccagggtttCggtttccagtacttccaggt	6	12	10	13	1	0	1	0	0	0	1	5	1	4	1	4	3	2	4	4	3	1	4			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr4:155507658C>T	uc003iod.1	-	4	981	c.923G>A	c.(922-924)cGa>cAa	p.R308Q	FGA_uc003ioe.1_Missense_Mutation_p.R308Q|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	308					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.R308Q(2)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCCAGGGTTTCGGTTTCCAGT	0.572													85	104					0	0	1	0	0	T	155507658	C	T	155507658	3	4	88	1	0	0	0	0	1	0	0	0	5830	884	31	2	1729	2	FGA	4	155507658	Missense_Mutation	SNP	C	TCGA-DU-7013-01A-11D-2024-08	36532153	155507658	35646618	13	3870											
NUP155	9631	broad.mit.edu	37	chr5	37364077	37364077	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacacccatcatgcaattaCactgcatatctgaggtagtg	13	10	7	11	0	2	1	1	1	1	0	2	1	2	1	1	1	3	3	1	1	4	3			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr5:37364077C>G	uc003jku.1	-	2	423	c.305G>C	c.(304-306)tGt>tCt	p.C102S	NUP155_uc003jkt.1_Missense_Mutation_p.C43S|NUP155_uc010iuz.1_Missense_Mutation_p.C102S	NM_153485	NP_004289	O75694	NU155_HUMAN	Homo sapiens nucleoporin 155kDa (NUP155), transcript variant 1, mRNA.	102					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATGCAATTACACTGCATATC	0.373													28	39					0	0	1	0	0	G	37364077	C	G	37364077	3	3	88	1	0	0	0	0	1	0	0	0	10756	478	17	5	4002	5	NUP155	5	37364077	Missense_Mutation	SNP	C	TCGA-DU-7013-01A-11D-2024-08		37364077	143551183	14	3871											
AP3S1	1176	broad.mit.edu	37	chr5	115177767	115177767	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctaatcttcaacaaccaCgggaagccgcggctctccaa	12	7	7	15	3	3	0	1	0	2	0	5	1	4	1	4	2	3	1	4	2	5	2			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr5:115177767C>T	uc003krl.3	+	0	149	c.33C>T	c.(31-33)caC>caT	p.H11H	AP3S1_uc003krk.3_5'UTR|ATG12_uc021ycr.1_5'Flank|ATG12_uc021ycs.1_5'Flank|ATG12_uc003krh.3_5'Flank|ATG12_uc003kri.3_5'Flank	NM_001284	NP_001275	Q92572	AP3S1_HUMAN	Homo sapiens adaptor-related protein complex 3, sigma 1 subunit (AP3S1), mRNA.	11					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|Golgi apparatus|cytoplasmic vesicle membrane|transport vesicle	protein binding|protein transporter activity	p.N10K(1)|p.N10H(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TCAACAACCACGGGAAGCCGC	0.706													6	4					0	0	1	0	0	T	115177767	C	T	115177767	2	4	88	1	0	0	0	0	0	0	0	1	749	535	19	1		1	AP3S1	5	115177767	Silent	SNP	C	TCGA-DU-7013-01A-11D-2024-08	77813690	115177767	65737493	15	3872											
ZNF323	64288	broad.mit.edu	37	chr6	28294587	28294587	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccatttcttttaagatttCttgctttgatgccaactcct	7	20	4	10	0	2	2	0	1	2	1	4	2	4	2	3	0	3	1	3	0	2	7			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr6:28294587C>G	uc003nlc.3	-	3	966	c.577G>C	c.(577-579)Gaa>Caa	p.E193Q	ZNF323_uc003nld.3_Missense_Mutation_p.E193Q|ZNF323_uc010jra.3_Missense_Mutation_p.E193Q|ZNF323_uc003nla.3_Missense_Mutation_p.E193Q|ZNF323_uc003nlb.3_Missense_Mutation_p.E34Q|ZNF323_uc010jrb.3_Missense_Mutation_p.E34Q|ZNF323_uc021yrs.1_Missense_Mutation_p.E193Q|ZNF323_uc021yrt.1_Missense_Mutation_p.E34Q	NM_030899	NP_001230173	Q96LW9	ZN323_HUMAN	Homo sapiens zinc finger protein 323 (ZNF323), transcript variant 1, mRNA.	193					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(2)|prostate(2)|skin(1)	27						TTTAAGATTTCTTGCTTTGAT	0.363													22	41					0	0	1	0	0	G	28294587	C	G	28294587	3	3	88	1	0	0	0	0	1	0	0	0	17840	922	32	5	647	5	ZNF323	6	28294587	Missense_Mutation	SNP	C	TCGA-DU-7013-01A-11D-2024-08		28294587	142820480	16	3873											
GUCA1B	2979	broad.mit.edu	37	chr6	42162502	42162502	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaccactcctggagctcCgccacatctatctcgccagc	7	10	7	17	2	2	0	0	0	2	0	5	1	4	1	5	1	3	2	5	1	2	3			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr6:42162502C>T	uc003orz.3	-	0	193	c.57G>A	c.(55-57)gcG>gcA	p.A19A		NM_002098	NP_002089	Q9UMX6	GUC1B_HUMAN	Homo sapiens guanylate cyclase activator 1B (retina) (GUCA1B), mRNA.	19	EF-hand 1.				body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception	plasma membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			large_intestine(3)|lung(3)|skin(2)	8	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			CCTGGAGCTCCGCCACATCTA	0.562													6	8					0	0	1	0	0	T	42162502	C	T	42162502	2	4	88	1	0	0	0	0	0	0	0	1	6889	639	23	2		2	GUCA1B	6	42162502	Silent	SNP	C	TCGA-DU-7013-01A-11D-2024-08	13867915	42162502	128952565	17	3874											
TAAR5	9038	broad.mit.edu	37	chr6	132910545	132910545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagcagctctccactgagCgaatggtgctgaggggcagc	9	6	14	12	1	1	2	0	2	1	0	2	3	1	2	2	3	5	4	2	3	1	0			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr6:132910545C>T	uc003qdk.2	-	0	333	c.281G>A	c.(280-282)cGc>cAc	p.R94H		NM_003967	NP_003958	O14804	TAAR5_HUMAN	Homo sapiens trace amine associated receptor 5 (TAAR5), mRNA.	94					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		CTCCACTGAGCGAATGGTGCT	0.587													27	47					0	0	1	0	0	T	132910545	C	T	132910545	3	4	88	1	0	0	0	0	1	0	0	0	15488	768	27	1	736	1	TAAR5	6	132910545	Missense_Mutation	SNP	C	TCGA-DU-7013-01A-11D-2024-08	90748043	132910545	38204522	18	3875											
LUC7L2	51631	broad.mit.edu	37	chr7	139030301	139030301	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttcatttccaagctgccAcctatctctgcctcctgcgt	6	13	6	16	1	2	0	1	0	1	0	5	0	4	0	5	0	5	2	5	0	2	3			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr7:139030301A>C	uc011kqt.2	+	1	427	c.193A>C	c.(193-195)Acc>Ccc	p.T65P	LUC7L2_uc011kqs.2_Intron|LUC7L2_uc003vuw.4_Missense_Mutation_p.T65P	NM_001244584	NP_001231513	Q9Y383	LC7L2_HUMAN	Homo sapiens LUC7-like 2 (S. cerevisiae) (LUC7L2), transcript variant 2, mRNA.	0							enzyme binding|metal ion binding			NS(2)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	16	Melanoma(164;0.242)					CCAAGCTGCCACCTATCTCTG	0.512													59	63					0	0	1	0	0	C	139030301	A	C	139030301	3	2	88	1	0	0	0	0	1	0	0	0	9083	159	6	5		5	LUC7L2	7	139030301	Missense_Mutation	SNP	A	TCGA-DU-7013-01A-11D-2024-08		139030301	20108362	19	3876											
PLAG1	5324	broad.mit.edu	37	chr8	57079207	57079207	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgggatgaagagggcacGccaccttgtaactccatcag	10	9	11	11	1	2	2	1	1	1	1	3	3	3	3	3	2	1	2	3	2	2	3			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr8:57079207G>A	uc003xsq.4	-	2	1549	c.1098C>T	c.(1096-1098)ggC>ggT	p.G366G	PLAG1_uc003xsr.4_Silent_p.G366G|PLAG1_uc010lyi.3_Silent_p.G366G|PLAG1_uc010lyj.3_Silent_p.G284G|PLAG1_uc022aur.1_Silent_p.G284G	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	366	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G366G(3)	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			AAGAGGGCACGCCACCTTGTA	0.458			T	"TCEA1, LIFR, CTNNB1, CHCHD7"	salivary adenoma								92	66					0	0	1	0	0	A	57079207	G	A	57079207	2	1	88	1	0	0	0	0	0	0	0	1	12018	1074	38	1		1	PLAG1	8	57079207	Silent	SNP	G	TCGA-DU-7013-01A-11D-2024-08		57079207	89284815	20	3877											
TLR4	7099	broad.mit.edu	37	chr9	120475558	120475558	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagatctcagtagaaatggCttgagtttcaaaggttgctg	11	13	11	6	0	2	3	2	1	1	2	3	3	2	3	0	2	1	5	0	2	4	5			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr9:120475558C>A	uc004bjz.3	+	2	1443	c.1152C>A	c.(1150-1152)ggC>ggA	p.G384G	TLR4_uc004bkb.3_Silent_p.G184G|TLR4_uc004bka.3_Silent_p.G344G	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	384					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GTAGAAATGGCTTGAGTTTCA	0.383													19	30					1.96292e-10	2.0831e-10	1	1	0	A	120475558	C	A	120475558	2	1	88	1	0	0	0	0	0	0	0	1	15950	784	28	5		5	TLR4	9	120475558	Silent	SNP	C	TCGA-DU-7013-01A-11D-2024-08		120475558	20737873	21	3878											
SETX	23064	broad.mit.edu	37	chr9	135202372	135202372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagattccaactgaggcCgacttacagaatcttcttca	13	11	6	11	1	4	3	2	1	2	2	5	4	5	3	2	1	2	0	2	1	4	4			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr9:135202372C>T	uc004cbk.3	-	9	4796	c.4613G>A	c.(4612-4614)cGg>cAg	p.R1538Q	SETX_uc004cbj.3_Missense_Mutation_p.R1157Q|SETX_uc010mzt.3_Missense_Mutation_p.R1157Q	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	1538					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CAACTGAGGCCGACTTACAGA	0.368													23	28					0	0	1	0	0	T	135202372	C	T	135202372	3	4	88	1	0	0	0	0	1	0	0	0	14141	652	23	2	3488	2	SETX	9	135202372	Missense_Mutation	SNP	C	TCGA-DU-7013-01A-11D-2024-08	14726814	135202372	6011059	22	3879											
CYP2C19	1557	broad.mit.edu	37	chr10	96612622	96612622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacaactcctgttgtcaatgGatttgcttctgtcccgccct	6	14	7	14	1	2	0	1	0	1	0	4	1	4	1	3	1	2	2	3	1	2	3			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr10:96612622G>A	uc010qnz.2	+	8	1424	c.1424G>A	c.(1423-1425)gGa>gAa	p.G475E	CYP2C19_uc010qny.2_Missense_Mutation_p.G453E	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	475					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GTTGTCAATGGATTTGCTTCT	0.473													40	8					0	0	1	0	0	A	96612622	G	A	96612622	3	1	88	1	0	0	0	0	1	0	0	0	4166	1174	41	3	1458	3	CYP2C19	10	96612622	Missense_Mutation	SNP	G	TCGA-DU-7013-01A-11D-2024-08		96612622	38922125	23	3880											
OR9G9	390174	broad.mit.edu	37	chr11	56468437	56468437	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agctggcctgtggcgagaagGgcggctataaaattatgatg	11	9	15	6	2	0	2	0	1	0	1	0	3	0	2	1	4	1	2	1	4	5	3			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr11:56468437G>A	uc010rjn.2	+	0	574	c.574G>A	c.(574-576)Ggc>Agc	p.G192S	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										TGGCGAGAAGGGCGGCTATAA	0.478													25	56					0	0	1	0	0	A	56468437	G	A	56468437	3	1	88	1	0	0	0	0	1	0	0	0	11252	1232	43	3	576	3	OR9G9	11	56468437	Missense_Mutation	SNP	G	TCGA-DU-7013-01A-11D-2024-08		56468437	78538079	24	3881											
KRT6B	3854	broad.mit.edu	37	chr12	52842747	52842747	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgtgatctgcagctccTcgtactgcagcccagaggtg	6	10	12	13	1	1	2	0	1	1	1	3	2	2	2	2	1	6	5	2	1	1	1			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr12:52842747T>C	uc001sak.3	-	5	1130	c.1082A>G	c.(1081-1083)gAg>gGg	p.E361G		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	361	Coil 2.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CTGCAGCTCCTCGTACTGCAG	0.537													37	54					0	0	1	0	0	C	52842747	T	C	52842747	3	2	88	1	0	0	0	0	1	0	0	0	8481	1551	54	4	628	4	KRT6B	12	52842747	Missense_Mutation	SNP	T	TCGA-DU-7013-01A-11D-2024-08		52842747	81009148	25	3882											
NOS1	4842	broad.mit.edu	37	chr12	117723945	117723945	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatcctgcccacacagcgCgaggcattccgccaggcgtg	7	6	13	15	4	0	0	0	0	0	0	2	2	2	1	4	3	2	1	4	3	0	1			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr12:117723945C>T	uc001twn.2	-	5	1965	c.1254G>A	c.(1252-1254)tcG>tcA	p.S418S	NOS1_uc021ren.1_Silent_p.S82S|NOS1_uc021reo.1_Silent_p.S82S|NOS1_uc001twm.2_Silent_p.S418S	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	418					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCACACAGCGCGAGGCATTCC	0.562													31	51					0	0	1	0	0	T	117723945	C	T	117723945	2	4	88	1	0	0	0	0	0	0	0	1	10541	755	27	1		1	NOS1	12	117723945	Silent	SNP	C	TCGA-DU-7013-01A-11D-2024-08	64881198	117723945	16127950	26	3883											
ZMYM2	7750	broad.mit.edu	37	chr13	20635254	20635254	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagaagattcctgcagcaaTtgaggagctaaaaagcaagg	16	7	12	6	0	0	3	0	2	0	2	1	5	1	4	1	2	4	4	1	2	6	3			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr13:20635254T>C	uc001umr.3	+	17	3099	c.2801T>C	c.(2800-2802)aTt>aCt	p.I934T	ZMYM2_uc001ums.3_Missense_Mutation_p.I934T|ZMYM2_uc021rgy.1_Missense_Mutation_p.I934T|ZMYM2_uc001umt.3_Missense_Mutation_p.I934T|ZMYM2_uc010tco.1_Non-coding_Transcript|ZMYM2_uc001umv.3_Missense_Mutation_p.I314T|ZMYM2_uc001umw.3_Missense_Mutation_p.I387T	NM_003453	NP_932072	Q9UBW7	ZMYM2_HUMAN	Homo sapiens zinc finger, MYM-type 2 (ZMYM2), transcript variant 1, mRNA.	934					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CCTGCAGCAATTGAGGAGCTA	0.418													12	8					0	0	1	0	0	C	20635254	T	C	20635254	3	2	88	1	0	0	0	0	1	0	0	0	17697	1493	52	3	2859	3	ZMYM2	13	20635254	Missense_Mutation	SNP	T	TCGA-DU-7013-01A-11D-2024-08		20635254	94534624	27	3884											
MTMR6	9107	broad.mit.edu	37	chr13	25840284	25840284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccttgtagtcccggttggCatcagacaactgccagtgtg	8	11	11	11	1	1	1	1	0	0	1	2	1	2	1	3	2	3	3	3	2	3	4			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr13:25840284C>T	uc001uqf.4	-	3	764	c.445G>A	c.(445-447)Gcc>Acc	p.A149T	MTMR6_uc001uqe.1_Missense_Mutation_p.A149T	NM_004685	NP_004676	Q9Y217	MTMR6_HUMAN	Homo sapiens myotubularin related protein 6 (MTMR6), mRNA.	149	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TCCCGGTTGGCATCAGACAAC	0.453													3	23					0	0	1	0	0	T	25840284	C	T	25840284	3	4	88	1	0	0	0	0	1	0	0	0	9947	710	25	3	1464	3	MTMR6	13	25840284	Missense_Mutation	SNP	C	TCGA-DU-7013-01A-11D-2024-08	5205030	25840284	89329594	28	3885											
MYH6	4624	broad.mit.edu	37	chr14	23855275	23855275	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggttgttgcgccgctccacGatggcgatgttctccttcag	5	12	12	12	4	2	0	1	0	1	0	4	2	3	0	3	2	1	4	3	2	0	4			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr14:23855275G>A	uc001wjv.3	-	33	5096	c.5025C>T	c.(5023-5025)atC>atT	p.I1675I		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1675					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCCGCTCCACGATGGCGATGT	0.637													18	28					0	0	1	0	0	A	23855275	G	A	23855275	2	1	88	1	0	0	0	0	0	0	0	1	10038	1048	37	2		2	MYH6	14	23855275	Silent	SNP	G	TCGA-DU-7013-01A-11D-2024-08		23855275	83494265	29	3886											
MDGA2	161357	broad.mit.edu	37	chr14	47426601	47426601	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaagaaagctgcatctccCagctccagcttcatttatga	13	10	6	12	0	2	2	1	1	1	1	4	2	3	2	2	0	5	4	2	0	4	3			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr14:47426601C>T	uc001wwj.4	-	8	2223	c.2065G>A	c.(2065-2067)Ggg>Agg	p.G689R	MDGA2_uc001wwi.4_Missense_Mutation_p.G391R|MDGA2_uc010ani.3_Missense_Mutation_p.G180R	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	620					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CTGCATCTCCCAGCTCCAGCT	0.358													14	22					0	0	1	0	0	T	47426601	C	T	47426601	3	4	88	1	0	0	0	0	1	0	0	0	9407	594	21	3	1048	3	MDGA2	14	47426601	Missense_Mutation	SNP	C	TCGA-DU-7013-01A-11D-2024-08	23571326	47426601	59922939	30	3887											
SPTB	6710	broad.mit.edu	37	chr14	65258514	65258514	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctaccaagctgttggcagcGaggttcacaccatcaatctg	10	10	9	12	1	4	0	2	0	2	0	4	1	4	0	2	2	3	4	2	2	3	3			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr14:65258514G>A	uc001xht.3	-	13	2778	c.2727C>T	c.(2725-2727)ctC>ctT	p.L909L	SPTB_uc001xhr.3_Silent_p.L909L|SPTB_uc001xhs.3_Silent_p.L909L|SPTB_uc001xhu.3_Silent_p.L909L	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	909					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGTTGGCAGCGAGGTTCACAC	0.557													19	21					0	0	1	0	0	A	65258514	G	A	65258514	2	1	88	1	0	0	0	0	0	0	0	1	15117	1045	37	2		2	SPTB	14	65258514	Silent	SNP	G	TCGA-DU-7013-01A-11D-2024-08	17831913	65258514	42091026	31	3888											
MSLNL	401827	broad.mit.edu	37	chr16	823215	823215	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggttggttctgaggatgcAgccatccaggcaggactcaa	10	8	13	10	0	2	1	1	1	1	0	3	3	3	3	2	5	2	4	2	5	1	2			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr16:823215A>G	uc002cjz.1	-	9	2053	c.2053T>C	c.(2053-2055)Tgc>Cgc	p.C685R		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	334					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CTGAGGATGCAGCCATCCAGG	0.632													24	32					0	0	1	0	0	G	823215	A	G	823215	3	3	88	1	0	0	0	0	1	0	0	0	9882	188	7	4	1136	4	MSLNL	16	823215	Missense_Mutation	SNP	A	TCGA-DU-7013-01A-11D-2024-08		823215	89531538	32	3889											
CASKIN1	57524	broad.mit.edu	37	chr16	2230409	2230409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgctgccggccaggtcaCtggcccgccggcactgtgcc	4	5	13	19	4	1	0	1	0	0	0	1	0	1	0	6	4	2	2	6	4	0	0			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr16:2230409C>T	uc010bsg.1	-	17	2992	c.2960G>A	c.(2959-2961)aGt>aAt	p.S987N		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	Homo sapiens CASK interacting protein 1 (CASKIN1), mRNA.	987	Pro-rich.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GGCCAGGTCACTGGCCCGCCG	0.716													6	6					0	0	1	0	0	T	2230409	C	T	2230409	3	4	88	1	0	0	0	0	1	0	0	0	2666	565	20	3	1347	3	CASKIN1	16	2230409	Missense_Mutation	SNP	C	TCGA-DU-7013-01A-11D-2024-08	1407194	2230409	88124344	33	3890											
CCNF	899	broad.mit.edu	37	chr16	2499351	2499351	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggagctgagaacccagcaCctgtgcagcttcctctgcga	8	8	12	13	1	1	1	0	1	1	1	2	4	2	2	3	1	6	4	3	1	1	1	rs151164394		TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr16:2499351C>A	uc002cqd.1	+	11	1375	c.1287C>A	c.(1285-1287)caC>caA	p.H429Q	CCNF_uc002cqe.1_Missense_Mutation_p.H121Q	NM_001761	NP_001752	P41002	CCNF_HUMAN	Homo sapiens cyclin F (CCNF), mRNA.	429					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination	SCF ubiquitin ligase complex|centriole|nucleus	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GAACCCAGCACCTGTGCAGCT	0.662													13	20					0.00010058	0.00010058	1	1	0	A	2499351	C	A	2499351	3	1	88	1	0	0	0	0	1	0	0	0	2922	506	18	5	1333	5	CCNF	16	2499351	Missense_Mutation	SNP	C	TCGA-DU-7013-01A-11D-2024-08	268942	2499351	87855402	34	3891											
AIPL1	23746	broad.mit.edu	37	chr17	6329143	6329143	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcacgcacgtagtaggccttCacgatgcctgtggggagcag	8	7	15	11	3	1	0	1	0	0	0	1	2	1	1	2	3	2	5	2	3	2	3			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr17:6329143C>T	uc002gcp.3	-	5	887	c.792G>A	c.(790-792)gtG>gtA	p.V264V	AIPL1_uc021toq.1_Silent_p.V225V|AIPL1_uc002gcq.3_Silent_p.V204V|AIPL1_uc002gcr.3_Silent_p.V201V|AIPL1_uc010clk.3_Silent_p.V242V|AIPL1_uc010cll.3_Silent_p.V240V|AIPL1_uc021tor.1_3'UTR|AIPL1_uc002gcs.3_3'UTR	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN	Homo sapiens aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), transcript variant 1, mRNA.	264					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		AGTAGGCCTTCACGATGCCTG	0.657													21	4					0	0	1	0	0	T	6329143	C	T	6329143	2	4	88	1	0	0	0	0	0	0	0	1	436	813	29	3		3	AIPL1	17	6329143	Silent	SNP	C	TCGA-DU-7013-01A-11D-2024-08		6329143	74866067	35	3892											
TP53	7157	broad.mit.edu	37	chr17	7578203	7578203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctcatagggcaccaccaCactatgtcgaaaagtgtttc	11	9	9	12	2	1	0	1	0	0	0	3	1	1	0	2	2	0	3	2	2	4	3			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr17:7578203C>T	uc002gim.2	-	5	840	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	TP53_uc002gig.1_Missense_Mutation_p.V216M|TP53_uc002gih.3_Missense_Mutation_p.V216M|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.V84M|TP53_uc010cnf.1_Missense_Mutation_p.V84M|TP53_uc002gii.1_Missense_Mutation_p.V84M|TP53_uc010cni.1_Missense_Mutation_p.V216M|TP53_uc010cnh.1_Missense_Mutation_p.V216M|TP53_uc002gij.2_Missense_Mutation_p.V216M|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.V123M|TP53_uc002gio.2_Missense_Mutation_p.V84M|TP53_uc010vug.2_Missense_Mutation_p.V177M|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	216	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V216M(117)|p.S215R(17)|p.V216del(16)|p.S215I(16)|p.V216L(15)|p.0?(8)|p.S215N(7)|p.V216G(6)|p.S215G(6)|p.S215C(5)|p.?(5)|p.V216E(5)|p.V216fs*6(4)|p.S215fs*32(4)|p.V216A(3)|p.S215T(3)|p.V84M(3)|p.V123M(3)|p.V216fs*32(2)|p.V216fs*33(2)|p.S215fs*27(2)|p.S215fs*29(2)|p.V216fs*5(2)|p.S215S(2)|p.V216_Y220delVVVPY(2)|p.D208_V216delDRNTFRHSV(2)|p.S215fs*31(2)|p.V216fs*31(2)|p.S215_V216insX(2)|p.D207_V216del10(2)|p.H214fs*5(2)|p.S215_V218>R(2)|p.S215_V218>M(2)|p.K164_P219del(1)|p.S215del(1)|p.H214_S215insX(1)|p.T211_S215delTFRHS(1)|p.S215_V218>RR(1)|p.D208fs*1(1)|p.V216fs*28(1)|p.T211fs*28(1)|p.R213_S215>X(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)		GGCACCACCACACTATGTCGA	0.537		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)			27	2					0	0	1	0	0	T	7578203	C	T	7578203	3	4	88	1	0	0	0	0	1	0	0	0	16378	478	17	3	648	3	TP53	17	7578203	Missense_Mutation	SNP	C	TCGA-DU-7013-01A-11D-2024-08	1249060	7578203	73617007	36	3893											
SLC16A3	9123	broad.mit.edu	37	chr17	80195561	80195561	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcttctccatgttcttcaaCggcctcgcggacctggcggg	5	10	12	14	4	3	0	1	0	2	0	5	1	3	1	3	4	2	2	3	4	1	3			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr17:80195561C>T	uc002kea.3	+	3	1065	c.915C>T	c.(913-915)aaC>aaT	p.N305N	SLC16A3_uc021ufm.1_Silent_p.N305N|SLC16A3_uc002keb.3_Silent_p.N305N|SLC16A3_uc002kec.3_Silent_p.N305N|SLC16A3_uc002ked.3_Silent_p.N305N|SLC16A3_uc021ufn.1_Silent_p.N305N|SLC16A3_uc021ufo.1_Silent_p.N305N	NM_001042422	NP_004198	O15427	MOT4_HUMAN	Homo sapiens solute carrier family 16, member 3 (monocarboxylic acid transporter 4) (SLC16A3), transcript variant 2, mRNA.	305					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	TGTTCTTCAACGGCCTCGCGG	0.652													29	65					0	0	1	0	0	T	80195561	C	T	80195561	2	4	88	1	0	0	0	0	0	0	0	1	14409	535	19	1		1	SLC16A3	17	80195561	Silent	SNP	C	TCGA-DU-7013-01A-11D-2024-08	72617358	80195561	999649	37	3894											
POLR2E	5434	broad.mit.edu	37	chr19	1090943	1090943	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgatgagcagctcctgctgCagaaactgctccaggatgta	10	10	11	10	0	0	3	0	2	0	1	2	4	2	4	2	1	6	6	2	1	2	2			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr19:1090943C>T	uc002lre.4	-	3	470	c.393G>A	c.(391-393)ctG>ctA	p.L131L	POLR2E_uc010xgf.2_Non-coding_Transcript	NM_002695	NP_002686	P19388	RPAB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide E, 25kDa (POLR2E), mRNA.	131					interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		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)		GCTCCTGCTGCAGAAACTGCT	0.667													14	33					0	0	1	0	0	T	1090943	C	T	1090943	2	4	88	1	0	0	0	0	0	0	0	1	12218	697	25	3		3	POLR2E	19	1090943	Silent	SNP	C	TCGA-DU-7013-01A-11D-2024-08		1090943	58038040	38	3895											
NLRP9	338321	broad.mit.edu	37	chr19	56244772	56244772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacagtgtgtcgtctagccGcagcagtatatgcgtcattc	8	11	10	12	3	2	0	1	0	1	0	4	0	2	0	2	0	3	3	2	0	3	4			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr19:56244772G>A	uc002qly.3	-	1	453	c.425C>T	c.(424-426)gCg>gTg	p.A142V		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	142						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TCGTCTAGCCGCAGCAGTATA	0.433													36	52					0	0	1	0	0	A	56244772	G	A	56244772	3	1	88	1	0	0	0	0	1	0	0	0	10484	1087	38	1	2582	1	NLRP9	19	56244772	Missense_Mutation	SNP	G	TCGA-DU-7013-01A-11D-2024-08	55153829	56244772	2884211	39	3896											
R3HDML	140902	broad.mit.edu	37	chr20	42979326	42979326	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggattggcgagtccccgtAcaagatgggaaagccgtgct	9	8	14	10	3	0	1	0	0	0	1	1	4	1	3	3	3	3	2	3	3	3	2			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr20:42979326A>G	uc002xls.1	+	4	828	c.656A>G	c.(655-657)tAc>tGc	p.Y219C		NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	Homo sapiens R3H domain containing-like (R3HDML), mRNA.	219						extracellular region	peptidase inhibitor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			GAGTCCCCGTACAAGATGGGA	0.532													33	39					0	0	1	0	0	G	42979326	A	G	42979326	3	3	88	1	0	0	0	0	1	0	0	0	12889	391	14	3	674	3	R3HDML	20	42979326	Missense_Mutation	SNP	A	TCGA-DU-7013-01A-11D-2024-08		42979326	20046194	40	3897											
HMCN1	83872	broad.mit.edu	37	chr1	186105910	186105910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccaaccattacatggtccCgtcaagggcactctatttcc	11	10	6	14	1	2	0	1	0	1	0	4	0	4	0	4	2	3	1	4	2	5	3			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr1:186105910C>T	uc001grq.1	+	86	13652	c.13423C>T	c.(13423-13425)Cgt>Tgt	p.R4475C	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.R44C	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4475	Ig-like C2-type 44.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.R4475H(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TACATGGTCCCGTCAAGGGCA	0.428													66	55					0	0	1	0	0	T	186105910	C	T	186105910	3	4	89	1	0	0	0	0	1	0	0	0	7220	652	23	2	13769	2	HMCN1	1	186105910	Missense_Mutation	SNP	C	TCGA-DU-7015-01A-11D-2024-08		186105910	63144711	1	3898											
ACBD3	64746	broad.mit.edu	37	chr1	226349374	226349374	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcttcacgccgccttcGctcctcttcctccttcctac	2	15	3	21	3	3	0	1	0	2	0	9	0	8	0	7	0	1	1	7	0	1	6			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr1:226349374G>A	uc001hpy.3	-	3	633	c.586C>T	c.(586-588)Cga>Tga	p.R196*		NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN	Homo sapiens acyl-CoA binding domain containing 3 (ACBD3), mRNA.	196	Arg-rich.|Glu-rich.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		cgccgccttcgctcctcttcc	0.458													14	11					0	0	1	0	0	A	226349374	G	A	226349374	4	1	89	1	0	0	0	0	0	1	0	0	123	1095	38	1	1020	1	ACBD3	1	226349374	Nonsense_Mutation	SNP	G	TCGA-DU-7015-01A-11D-2024-08	40243464	226349374	22901247	2	3899											
ZAP70	7535	broad.mit.edu	37	chr2	98354504	98354504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcatcgagcagggcaagcGgatggagtgcccaccagagt	10	6	14	11	2	1	1	1	0	0	1	2	4	1	3	2	3	3	2	2	3	1	1			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr2:98354504G>A	uc002syd.1	+	12	1877	c.1670G>A	c.(1669-1671)cGg>cAg	p.R557Q	ZAP70_uc002sye.1_Missense_Mutation_p.R447Q|ZAP70_uc002syf.1_Missense_Mutation_p.R250Q	NM_001079	NP_997402	P43403	ZAP70_HUMAN	Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA.	557	Protein kinase.				T cell receptor signaling pathway|immune response|intracellular protein kinase cascade|positive thymic T cell selection	T cell receptor complex|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CAGGGCAAGCGGATGGAGTGC	0.607													3	4					0	0	1	0	0	A	98354504	G	A	98354504	3	1	89	1	0	0	0	0	1	0	0	0	17511	1116	39	2	1712	2	ZAP70	2	98354504	Missense_Mutation	SNP	G	TCGA-DU-7015-01A-11D-2024-08		98354504	144844869	3	3900											
ACVR1C	130399	broad.mit.edu	37	chr2	158443697	158443697	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaacaaagataaaccccttAcctgttggaaggtgcagtgt	13	10	10	8	0	0	2	0	1	0	1	0	3	0	3	3	2	4	2	3	2	6	3			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr2:158443697A>G	uc002tzk.4	-	2	547	c.304_splice	c.e2+1	p.A102_splice	ACVR1C_uc002tzl.4_Splice_Site_p.G102_splice|ACVR1C_uc010fof.3_Splice_Site_p.D102_splice|ACVR1C_uc010foe.3_Splice_Site_p.A52_splice	NM_145259	NP_001104501	Q8NER5	ACV1C_HUMAN	Homo sapiens activin A receptor, type IC (ACVR1C), transcript variant 1, mRNA.	102					apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	ATP binding|activin receptor activity, type I|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TAAACCCCTTACCTGTTGGAA	0.348													8	112					0	0	1	0	0	G	158443697	A	G	158443697	5	3	89	1	0	0	0	0	0	0	1	0	222	405	14	3	1207	3	ACVR1C	2	158443697	Splice_Site	SNP	A	TCGA-DU-7015-01A-11D-2024-08	60089193	158443697	84755676	4	3901											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								23	41					0	0	1	0	0	T	209113112	C	T	209113112	3	4	89	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7015-01A-11D-2024-08	50669415	209113112	34086261	5	3902											
DBR1	51163	broad.mit.edu	37	chr3	137882319	137882319	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatcaggagcactggggtcAtgttctatctctaatatcta	11	14	8	8	0	5	0	2	0	3	0	6	1	5	1	0	3	1	2	0	3	5	6			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr3:137882319A>C	uc003erv.3	-	6	967	c.813T>G	c.(811-813)caT>caG	p.H271Q	DBR1_uc003eru.3_Missense_Mutation_p.H220Q|DBR1_uc003ert.3_Missense_Mutation_p.H39Q	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.	271						nucleus	RNA lariat debranching enzyme activity|metal ion binding			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CACTGGGGTCATGTTCTATCT	0.323													4	45					0	0	1	0	0	C	137882319	A	C	137882319	3	2	89	1	0	0	0	0	1	0	0	0	4257	214	8	5	829	5	DBR1	3	137882319	Missense_Mutation	SNP	A	TCGA-DU-7015-01A-11D-2024-08		137882319	60140111	6	3903											
B3GNT5	84002	broad.mit.edu	37	chr3	182987919	182987919	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccggaattagaaggacgtgGggcaatgaaaattatgttcg	13	10	13	5	3	0	2	0	1	0	1	2	4	1	4	1	4	0	2	1	4	7	3			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr3:182987919G>A	uc003flm.3	+	1	856	c.333G>A	c.(331-333)tgG>tgA	p.W111*	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003flk.3_Nonsense_Mutation_p.W111*|B3GNT5_uc003fll.3_Nonsense_Mutation_p.W111*|B3GNT5_uc021xic.1_Nonsense_Mutation_p.W111*	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 (B3GNT5), mRNA.	111					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity	p.T110T(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GAAGGACGTGGGGCAATGAAA	0.428													26	64					0	0	1	0	0	A	182987919	G	A	182987919	4	1	89	1	0	0	0	0	0	1	0	0	1260	1241	43	3	335	3	B3GNT5	3	182987919	Nonsense_Mutation	SNP	G	TCGA-DU-7015-01A-11D-2024-08	45105600	182987919	15034511	7	3904											
IL7R	3575	broad.mit.edu	37	chr5	35875624	35875624	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgatttcaggattaagcctAtcgtatggcccagtctcccc	8	12	8	13	1	2	1	1	1	1	0	4	2	2	2	4	2	1	1	4	2	3	4			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr5:35875624A>C	uc003jjs.3	+	6	900	c.811A>C	c.(811-813)Atc>Ctc	p.I271L	IL7R_uc011coo.2_Silent_p.L239L|IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	271					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GATTAAGCCTATCGTATGGCC	0.423			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency						4	36					0	0	1	0	0	C	35875624	A	C	35875624	3	2	89	1	0	0	0	0	1	0	0	0	7705	449	16	5	837	5	IL7R	5	35875624	Missense_Mutation	SNP	A	TCGA-DU-7015-01A-11D-2024-08		35875624	145039636	8	3905											
PRKAA1	5562	broad.mit.edu	37	chr5	40765101	40765101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaatcaggtgggcttgtcGccaaatagaaatctttggct	12	11	11	7	1	2	2	1	0	1	2	3	2	2	2	1	3	0	2	1	3	5	3			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr5:40765101G>A	uc003jmb.3	-	7	1112	c.1106C>T	c.(1105-1107)gCg>gTg	p.A369V	PRKAA1_uc003jmc.3_Missense_Mutation_p.A354V	NM_206907	NP_996790	Q13131	AAPK1_HUMAN	Homo sapiens protein kinase, AMP-activated, alpha 1 catalytic subunit (PRKAA1), transcript variant 2, mRNA.	354					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TGGGCTTGTCGCCAAATAGAA	0.438													6	58					0	0	1	0	0	A	40765101	G	A	40765101	3	1	89	1	0	0	0	0	1	0	0	0	12493	1087	38	1	630	1	PRKAA1	5	40765101	Missense_Mutation	SNP	G	TCGA-DU-7015-01A-11D-2024-08	4889477	40765101	140150159	9	3906											
GRIA1	2890	broad.mit.edu	37	chr5	153026583	153026583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttgtggggccctccacGtctgcttcattacgccgagc	4	12	10	15	3	2	0	1	0	1	0	3	1	3	0	4	2	3	1	4	2	1	4	rs138238382		TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr5:153026583G>A	uc011dcy.2	+	2	373	c.346G>A	c.(346-348)Gtc>Atc	p.V116I	GRIA1_uc003lva.4_Missense_Mutation_p.V106I|GRIA1_uc003luy.4_Missense_Mutation_p.V106I|GRIA1_uc003luz.4_Missense_Mutation_p.V11I|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Intron|GRIA1_uc011dcx.2_Missense_Mutation_p.V37I|GRIA1_uc011dcz.2_Missense_Mutation_p.V116I|GRIA1_uc010jia.1_Missense_Mutation_p.V86I	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	106					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGCCCTCCACGTCTGCTTCAT	0.502													13	107					0	0	1	0	0	A	153026583	G	A	153026583	3	1	89	1	0	0	0	0	1	0	0	0	6767	1145	40	1	326	1	GRIA1	5	153026583	Missense_Mutation	SNP	G	TCGA-DU-7015-01A-11D-2024-08	112261482	153026583	27888677	10	3907											
COL12A1	1303	broad.mit.edu	37	chr6	75834890	75834890	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgagtccagaatcatatTgagcataaacattcacatcg	15	10	6	10	1	2	3	2	2	0	1	4	3	3	3	1	0	2	1	1	0	4	4			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr6:75834890T>C	uc021zbv.1	-	38	6595	c.6560A>G	c.(6559-6561)cAa>cGa	p.Q2187R	COL12A1_uc021zbw.1_Missense_Mutation_p.Q1023R|COL12A1_uc003phs.3_Missense_Mutation_p.Q2187R|COL12A1_uc003pht.3_Missense_Mutation_p.Q1023R	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2187	Fibronectin type-III 17.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGAATCATATTGAGCATAAAC	0.413													19	28					0	0	1	0	0	C	75834890	T	C	75834890	3	2	89	1	0	0	0	0	1	0	0	0	3669	1812	63	3	2739	3	COL12A1	6	75834890	Missense_Mutation	SNP	T	TCGA-DU-7015-01A-11D-2024-08		75834890	95280177	11	3908											
SLC22A1	6580	broad.mit.edu	37	chr6	160543229	160543229	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaggccttccttggccagTgcaggcgctatgaagtggac	7	8	15	11	2	0	1	0	1	0	0	1	3	1	2	3	4	1	2	3	4	2	3	rs55918055	byFrequency	TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr6:160543229T>C	uc003qtc.3	+	0	367	c.262T>C	c.(262-264)Tgc>Cgc	p.C88R	SLC22A1_uc003qtd.3_Missense_Mutation_p.C88R	NM_003057	NP_003048	O15245	S22A1_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 1 (SLC22A1), transcript variant 1, mRNA.	88			C -> R (in dbSNP:rs55918055).			basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CCTTGGCCAGTGCAGGCGCTA	0.677													4	68					0	0	1	0	0	C	160543229	T	C	160543229	3	2	89	1	0	0	0	0	1	0	0	0	14440	1696	59	3	264	3	SLC22A1	6	160543229	Missense_Mutation	SNP	T	TCGA-DU-7015-01A-11D-2024-08	84708339	160543229	10571838	12	3909											
SYBU	55638	broad.mit.edu	37	chr8	110655043	110655043	+	Missense_Mutation	SNP	G	G	A																															tgctctcttcctcagagaaaGgagactcagaggctggggac																										TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr8:110655043G>A	uc010mcp.3	-	2	505	c.143C>T	c.(142-144)cCt>cTt	p.P48L	SYBU_uc003yni.4_Missense_Mutation_p.P45L|SYBU_uc003ynk.4_Intron|SYBU_uc003ynj.4_Missense_Mutation_p.P48L|SYBU_uc010mco.3_Missense_Mutation_p.P47L|SYBU_uc003ynl.4_Missense_Mutation_p.P47L|SYBU_uc010mcq.3_Missense_Mutation_p.P48L|SYBU_uc003yno.4_Intron|SYBU_uc010mcr.3_Missense_Mutation_p.P48L|SYBU_uc003ynm.4_Missense_Mutation_p.P47L|SYBU_uc003ynn.4_Missense_Mutation_p.P47L|SYBU_uc010mcs.3_Intron|SYBU_uc010mct.3_Missense_Mutation_p.P48L|SYBU_uc010mcu.3_Missense_Mutation_p.P47L|SYBU_uc003ynp.4_Intron|SYBU_uc010mcv.3_Missense_Mutation_p.P48L|AX748380_uc003ynq.1_5'Flank	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN	Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.	48	Ser-rich.|Sufficient for interaction with KIF5B.					Golgi membrane|cytoplasmic membrane-bounded vesicle|cytoskeleton|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CTCAGAGAAAGGAGACTCAGA	0.552													5	88					0	0	1	0	0	A	110655043	G	A	110655043	3	1	89	1	0	0	0	0	1	0	0	0	15424	1000	35	3	1872	3	SYBU	8	110655043	Missense_Mutation	SNP	G	TCGA-DU-7015-01A-11D-2024-08		110655043	35708979	13	3910	18	2									
SYBU	55638	broad.mit.edu	37	chr8	110655044	110655044	+	Missense_Mutation	SNP	G	G	A																															gctctcttcctcagagaaagGagactcagaggctggggaca																										TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr8:110655044G>A	uc010mcp.3	-	2	504	c.142C>T	c.(142-144)Cct>Tct	p.P48S	SYBU_uc003yni.4_Missense_Mutation_p.P45S|SYBU_uc003ynk.4_Intron|SYBU_uc003ynj.4_Missense_Mutation_p.P48S|SYBU_uc010mco.3_Missense_Mutation_p.P47S|SYBU_uc003ynl.4_Missense_Mutation_p.P47S|SYBU_uc010mcq.3_Missense_Mutation_p.P48S|SYBU_uc003yno.4_Intron|SYBU_uc010mcr.3_Missense_Mutation_p.P48S|SYBU_uc003ynm.4_Missense_Mutation_p.P47S|SYBU_uc003ynn.4_Missense_Mutation_p.P47S|SYBU_uc010mcs.3_Intron|SYBU_uc010mct.3_Missense_Mutation_p.P48S|SYBU_uc010mcu.3_Missense_Mutation_p.P47S|SYBU_uc003ynp.4_Intron|SYBU_uc010mcv.3_Missense_Mutation_p.P48S|AX748380_uc003ynq.1_5'Flank	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN	Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.	48	Ser-rich.|Sufficient for interaction with KIF5B.					Golgi membrane|cytoplasmic membrane-bounded vesicle|cytoskeleton|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TCAGAGAAAGGAGACTCAGAG	0.552													5	89					0	0	1	0	0	A	110655044	G	A	110655044	3	1	89	1	0	0	0	0	1	0	0	0	15424	1174	41	3	1873	3	SYBU	8	110655044	Missense_Mutation	SNP	G	TCGA-DU-7015-01A-11D-2024-08	1	110655044	35708978	14	3911	18	2									
CSMD3	114788	broad.mit.edu	37	chr8	113277704	113277704	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtcctgattctggagccAttcaattccatcgtgtagcc	9	12	8	12	1	2	1	1	1	1	0	5	2	4	2	4	1	2	1	4	1	3	4			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr8:113277704A>G	uc003ynu.3	-	59	9783	c.9624T>C	c.(9622-9624)aaT>aaC	p.N3208N	CSMD3_uc003yns.3_Silent_p.N2410N|CSMD3_uc003ynt.3_Silent_p.N3168N|CSMD3_uc011lhx.2_Silent_p.N3039N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3208	Sushi 24.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCTGGAGCCATTCAATTCCA	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	113					0	0	1	0	0	G	113277704	A	G	113277704	2	3	89	1	0	0	0	0	0	0	0	1	3946	214	8	3		3	CSMD3	8	113277704	Silent	SNP	A	TCGA-DU-7015-01A-11D-2024-08	2622660	113277704	33086318	15	3912											
TG	7038	broad.mit.edu	37	chr8	133961128	133961128	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctacatgtcctggtgtgAcatatgaccaggagagccac	11	9	11	10	0	0	3	0	2	0	1	1	4	1	3	3	2	3	1	3	2	2	2			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr8:133961128A>T	uc003ytw.3	+	26	5382	c.5341A>T	c.(5341-5343)Aca>Tca	p.T1781S	TG_uc010mdw.3_Missense_Mutation_p.T540S|TG_uc011ljb.2_Missense_Mutation_p.T150S	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1781					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCCTGGTGTGACATATGACCA	0.468													24	173					0	0	1	0	0	T	133961128	A	T	133961128	3	4	89	1	0	0	0	0	1	0	0	0	15810	275	10	5	5447	5	TG	8	133961128	Missense_Mutation	SNP	A	TCGA-DU-7015-01A-11D-2024-08	20683424	133961128	12402894	16	3913											
MASTL	84930	broad.mit.edu	37	chr10	27459597	27459597	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatatttctatgaactctgAttcatcttttcctggaattt	11	19	4	7	0	4	2	1	2	3	0	5	3	5	3	1	1	1	0	1	1	5	7			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr10:27459597A>G	uc001itm.3	+	7	2312	c.1709A>G	c.(1708-1710)gAt>gGt	p.D570G	MASTL_uc001itl.3_Missense_Mutation_p.D570G|MASTL_uc009xkw.2_Missense_Mutation_p.D570G|MASTL_uc009xkx.2_Non-coding_Transcript	NM_001172303	NP_001165774	Q96GX5	GWL_HUMAN	Homo sapiens microtubule associated serine/threonine kinase-like (MASTL), transcript variant 1, mRNA.	570	Protein kinase.				G2/M transition of mitotic cell cycle|cell division|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATGAACTCTGATTCATCTTTT	0.323													4	67					0	0	1	0	0	G	27459597	A	G	27459597	3	3	89	1	0	0	0	0	1	0	0	0	9328	333	12	3	1739	3	MASTL	10	27459597	Missense_Mutation	SNP	A	TCGA-DU-7015-01A-11D-2024-08		27459597	108075150	17	3914											
C10orf27	219793	broad.mit.edu	37	chr10	72541755	72541755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggggctccttggcttgcGccctgacttcttctccagtt	2	14	10	15	1	2	1	0	1	2	0	4	1	3	1	4	3	1	3	4	3	0	5			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr10:72541755G>A	uc010qjm.1	-	3	469	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	C10orf27_uc001jrj.1_Missense_Mutation_p.R27C|C10orf27_uc009xqh.1_Non-coding_Transcript|C10orf27_uc010qjn.1_Missense_Mutation_p.R27C|C10orf27_uc009xqi.1_Non-coding_Transcript|C10orf27_uc010qjo.1_Missense_Mutation_p.R16C|C10orf27_uc009xqj.1_Missense_Mutation_p.R16C|C10orf27_uc010qjp.1_Missense_Mutation_p.R16C	NM_152710	NP_689923	Q96M53	SPATL_HUMAN	Homo sapiens chromosome 10 open reading frame 27 (C10orf27), mRNA.	27					cell differentiation|multicellular organismal development|spermatogenesis	cytosol				cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|skin(2)	16						CTTGGCTTGCGCCCTGACTTC	0.587													34	52					0	0	1	0	0	A	72541755	G	A	72541755	3	1	89	1	0	0	0	0	1	0	0	0	1600	1087	38	1	1008	1	C10orf27	10	72541755	Missense_Mutation	SNP	G	TCGA-DU-7015-01A-11D-2024-08	45082158	72541755	62992992	18	3915											
PHRF1	57661	broad.mit.edu	37	chr11	608555	608555	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaggagctcgaggtcagcGtcaccatcagtgggtgagga	10	6	16	9	2	3	1	3	1	0	0	4	5	3	3	1	4	2	1	1	4	0	0			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr11:608555G>A	uc001lqe.3	+	13	3230	c.3099G>A	c.(3097-3099)gcG>gcA	p.A1033A	PHRF1_uc010qwc.2_Silent_p.A1032A|PHRF1_uc010qwd.2_Silent_p.A1031A|PHRF1_uc010qwe.2_Silent_p.A1029A|PHRF1_uc009ybz.1_Silent_p.A823A|PHRF1_uc009yca.2_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	1033	Arg-rich.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CGAGGTCAGCGTCACCATCAG	0.662													8	18					0	0	1	0	0	A	608555	G	A	608555	2	1	89	1	0	0	0	0	0	0	0	1	11861	1132	40	1		1	PHRF1	11	608555	Silent	SNP	G	TCGA-DU-7015-01A-11D-2024-08		608555	134397961	19	3916											
OR52D1	390066	broad.mit.edu	37	chr11	5510502	5510502	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgagcatatgggcattgcccGactggcctgtgccaacatca	9	9	11	12	1	1	1	1	1	0	0	1	2	1	1	3	2	4	2	3	2	2	2	rs74379370	by1000genomes	TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr11:5510502G>C	uc010qzg.2	+	0	588	c.566G>C	c.(565-567)cGa>cCa	p.R189P	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R189R(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCATTGCCCGACTGGCCTGT	0.522													78	86					0	0	1	0	0	C	5510502	G	C	5510502	3	2	89	1	0	0	0	0	1	0	0	0	11114	1058	37	5	568	5	OR52D1	11	5510502	Missense_Mutation	SNP	G	TCGA-DU-7015-01A-11D-2024-08	4901947	5510502	129496014	20	3917											
SLC17A6	57084	broad.mit.edu	37	chr11	22363146	22363146	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagcccctagaggtgccCgagaggaaggcgccgctgtg	8	4	18	11	3	0	2	0	0	0	2	0	5	0	4	4	4	2	1	4	4	3	1			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr11:22363146C>T	uc001mqk.3	+	1	572	c.159C>T	c.(157-159)ccC>ccT	p.P53P		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	53					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TAGAGGTGCCCGAGAGGAAGG	0.642													4	37					0	0	1	0	0	T	22363146	C	T	22363146	2	4	89	1	0	0	0	0	0	0	0	1	14421	639	23	2		2	SLC17A6	11	22363146	Silent	SNP	C	TCGA-DU-7015-01A-11D-2024-08	16852644	22363146	112643370	21	3918											
CHST1	8534	broad.mit.edu	37	chr11	45671624	45671624	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccgcatgaggccggtggAcacggagttggagaagtcct	8	6	18	9	3	0	2	0	1	0	1	1	5	1	4	3	6	0	2	3	6	1	1			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr11:45671624A>G	uc021qgn.1	-	0	850	c.850T>C	c.(850-852)Tcc>Ccc	p.S284P	CHST1_uc001mys.2_Missense_Mutation_p.S284P	NM_003654	NP_003645	O43916	CHST1_HUMAN	Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA.	284					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		AGGCCGGTGGACACGGAGTTG	0.622													7	61					0	0	1	0	0	G	45671624	A	G	45671624	3	3	89	1	0	0	0	0	1	0	0	0	3397	275	10	3	389	3	CHST1	11	45671624	Missense_Mutation	SNP	A	TCGA-DU-7015-01A-11D-2024-08	23308478	45671624	89334892	22	3919											
OR5B21	219968	broad.mit.edu	37	chr11	58275443	58275443	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggagtctgagtggatgaTcaccatcattcccccattcc	9	11	9	12	0	3	2	2	2	1	0	5	4	5	4	4	2	0	0	4	2	0	2			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr11:58275443T>C	uc010rki.2	-	0	136	c.136A>G	c.(136-138)Atc>Gtc	p.I46V		NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 21 (OR5B21), mRNA.	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAGTGGATGATCACCATCATT	0.478													7	67					0	0	1	0	0	C	58275443	T	C	58275443	3	2	89	1	0	0	0	0	1	0	0	0	11151	1435	50	3	795	3	OR5B21	11	58275443	Missense_Mutation	SNP	T	TCGA-DU-7015-01A-11D-2024-08	12603819	58275443	76731073	23	3920											
CCDC153	283152	broad.mit.edu	37	chr11	119063944	119063944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagggcatggcactggCgactcatctctggggtgggg	5	8	17	11	1	2	0	1	0	1	0	3	1	2	0	1	7	1	3	1	7	0	0			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr11:119063944C>T	uc010rze.2	-	4	480	c.266G>A	c.(265-267)cGc>cAc	p.R89H		NM_001145018	NP_001138490	Q494R4	CC153_HUMAN	Homo sapiens coiled-coil domain containing 153 (CCDC153), mRNA.	89										lung(3)|stomach(1)	4						ATGGCACTGGCGACTCATCTC	0.592													4	81					0	0	1	0	0	T	119063944	C	T	119063944	3	4	89	1	0	0	0	0	1	0	0	0	2787	768	27	1	378	1	CCDC153	11	119063944	Missense_Mutation	SNP	C	TCGA-DU-7015-01A-11D-2024-08	60788501	119063944	15942572	24	3921											
GNPTAB	79158	broad.mit.edu	37	chr12	102142925	102142925	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaacataatcaatgttgctAgtacacaatgggtccaaaac	17	10	6	8	0	1	0	1	0	0	0	2	0	2	0	1	1	4	3	1	1	9	5			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr12:102142925A>G	uc001tit.3	-	19	3839	c.3647T>C	c.(3646-3648)cTa>cCa	p.L1216P		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	Homo sapiens N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits (GNPTAB), mRNA.	1216					cell differentiation	Golgi membrane|integral to membrane|nucleus	UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity|metal ion binding|transcription factor binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						CAATGTTGCTAGTACACAATG	0.338													34	97					0	0	1	0	0	G	102142925	A	G	102142925	3	3	89	1	0	0	0	0	1	0	0	0	6545	420	15	4	131	4	GNPTAB	12	102142925	Missense_Mutation	SNP	A	TCGA-DU-7015-01A-11D-2024-08		102142925	31708970	25	3922											
NKX2-1	7080	broad.mit.edu	37	chr14	36987039	36987039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgctcgcgctccggcgccGacaggtacttctgttgcttg	3	11	14	13	5	1	0	0	0	1	0	3	1	2	0	2	3	3	5	2	3	1	4			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr14:36987039G>A	uc001wtu.3	-	2	746	c.650C>T	c.(649-651)tCg>tTg	p.S217L	SFTA3_uc001wts.3_Intron|NKX2-1_uc001wtt.3_Missense_Mutation_p.S187L|NKX2-1_uc001wtv.3_Missense_Mutation_p.S187L|BX161496_uc001wtw.1_5'Flank	NM_001079668	NP_001073136	P43699	NKX21_HUMAN	Homo sapiens NK2 homeobox 1 (NKX2-1), transcript variant 1, mRNA.	187					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		CTCCGGCGCCGACAGGTACTT	0.657			A		NSCLC								3	16					0	0	1	0	0	A	36987039	G	A	36987039	3	1	89	1	0	0	0	0	1	0	0	0	10449	1059	37	2	559	2	NKX2-1	14	36987039	Missense_Mutation	SNP	G	TCGA-DU-7015-01A-11D-2024-08		36987039	70362501	26	3923											
TP53	7157	broad.mit.edu	37	chr17	7578265	7578265	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatttccttccactcggAtaagatgctgaggaggggcc	10	9	12	10	1	0	2	0	1	0	1	3	4	2	4	3	4	1	2	3	4	2	3			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr17:7578265A>G	uc002gim.2	-	5	778	c.584T>C	c.(583-585)aTc>aCc	p.I195T	TP53_uc002gig.1_Missense_Mutation_p.I195T|TP53_uc002gih.3_Missense_Mutation_p.I195T|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.I63T|TP53_uc010cnf.1_Missense_Mutation_p.I63T|TP53_uc002gii.1_Missense_Mutation_p.I63T|TP53_uc010cni.1_Missense_Mutation_p.I195T|TP53_uc010cnh.1_Missense_Mutation_p.I195T|TP53_uc002gij.2_Missense_Mutation_p.I195T|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.I102T|TP53_uc002gio.2_Missense_Mutation_p.I63T|TP53_uc010vug.2_Missense_Mutation_p.I156T|DL476358_uc021tph.1_Splice_Site	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	195	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.I195T(136)|p.L194R(37)|p.I195N(24)|p.L194F(18)|p.I195F(18)|p.I195S(16)|p.I195fs*14(9)|p.L194P(8)|p.A189_V197delAPPQHLIRV(8)|p.0?(8)|p.L194H(6)|p.?(5)|p.P191_E198>Q(4)|p.L194L(4)|p.I195fs*52(4)|p.H193_I195delHLI(2)|p.I195fs*12(2)|p.I102S(2)|p.I195fs*50(2)|p.L194fs*15(2)|p.I102T(2)|p.I195_G199delIRVEG(2)|p.I63T(2)|p.I63S(2)|p.H193_I195>AP(2)|p.K164_P219del(1)|p.L194V(1)|p.L194fs*14(1)|p.P191fs*6(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195M(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.L194I(1)|p.I195L(1)|p.I63fs*14(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)		TTCCACTCGGATAAGATGCTG	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	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)			33	9					0	0	1	0	0	G	7578265	A	G	7578265	3	3	89	1	0	0	0	0	1	0	0	0	16378	333	12	3	710	3	TP53	17	7578265	Missense_Mutation	SNP	A	TCGA-DU-7015-01A-11D-2024-08		7578265	73616945	27	3924											
MYH4	4622	broad.mit.edu	37	chr17	10351193	10351193	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctcagcagcctggcggttgGcatggttcagctggatttcc	5	11	13	12	1	2	0	2	0	0	0	3	1	3	1	3	5	3	5	3	5	0	3			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr17:10351193G>T	uc002gmn.3	-	33	5018	c.4907C>A	c.(4906-4908)gCc>gAc	p.A1636D	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1636					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTGGCGGTTGGCATGGTTCAG	0.453													78	127					1.25742e-37	1.27988e-37	1	1	0	T	10351193	G	T	10351193	3	4	89	1	0	0	0	0	1	0	0	0	10037	1203	42	5	940	5	MYH4	17	10351193	Missense_Mutation	SNP	G	TCGA-DU-7015-01A-11D-2024-08	2772928	10351193	70844017	28	3925											
ALDH3A1	218	broad.mit.edu	37	chr17	19641635	19641635	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acagcgccttccccctctcaCcttggccgggctcggggggt	3	8	13	17	3	1	0	1	0	1	0	4	0	2	0	5	5	1	1	5	5	0	2			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr17:19641635C>T	uc002gwk.3	-	8	1961	c.1698_splice	c.e8+1	p.K566_splice	ALDH3A1_uc010cqu.3_Splice_Site_p.K449_splice|ALDH3A1_uc010vzd.2_Splice_Site_p.K449_splice|ALDH3A1_uc002gwj.3_Splice_Site_p.K449_splice|ALDH3A1_uc010cqv.3_Splice_Site_p.K448_splice			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	449					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CCCCCTCTCACCTTGGCCGGG	0.632													4	61					0	0	1	0	0	T	19641635	C	T	19641635	5	4	89	1	0	0	0	0	0	0	1	0	497	521	18	3	21	3	ALDH3A1	17	19641635	Splice_Site	SNP	C	TCGA-DU-7015-01A-11D-2024-08	9290442	19641635	61553575	29	3926											
CDH19	28513	broad.mit.edu	37	chr18	64202239	64202239	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttacatttttctgtggctgtAatacttaggttgtaccaagc	9	17	8	7	0	1	0	0	0	1	0	1	0	1	0	1	2	4	4	1	2	6	8			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr18:64202239A>C	uc002lkc.1	-	7	1458	c.1320T>G	c.(1318-1320)atT>atG	p.I440M	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Missense_Mutation_p.I440M|CDH19_uc002lkd.3_Missense_Mutation_p.I440M	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	440	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CTGTGGCTGTAATACTTAGGT	0.338													4	74					0	0	1	0	0	C	64202239	A	C	64202239	3	2	89	1	0	0	0	0	1	0	0	0	3104	358	13	5	1018	5	CDH19	18	64202239	Missense_Mutation	SNP	A	TCGA-DU-7015-01A-11D-2024-08		64202239	13875009	30	3927											
C3	718	broad.mit.edu	37	chr19	6707865	6707865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtgaaggtcagccctgcgtCggagaagacaccggcgtaat	10	6	14	11	5	1	3	1	1	0	2	2	4	1	3	2	3	2	1	2	3	3	1			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr19:6707865C>T	uc002mfm.3	-	14	1983	c.1921G>A	c.(1921-1923)Gac>Aac	p.D641N		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	641					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AGCCCTGCGTCGGAGAAGACA	0.682													21	38					0	0	1	0	0	T	6707865	C	T	6707865	3	4	89	1	0	0	0	0	1	0	0	0	2204	884	31	2	3178	2	C3	19	6707865	Missense_Mutation	SNP	C	TCGA-DU-7015-01A-11D-2024-08		6707865	52421118	31	3928											
PDCD2L	84306	broad.mit.edu	37	chr19	34900075	34900075	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatttttccagaaacagggaAacagccttgcagctgaggac	13	9	10	9	0	0	2	0	1	0	1	1	4	1	4	2	2	5	2	2	2	3	4			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr19:34900075A>G	uc002nvj.3	+	3	379	c.346A>G	c.(346-348)Aac>Gac	p.N116D		NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	Homo sapiens programmed cell death 2-like (PDCD2L), mRNA.	116						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GAAACAGGGAAACAGCCTTGC	0.522													30	53					0	0	1	0	0	G	34900075	A	G	34900075	3	3	89	1	0	0	0	0	1	0	0	0	11620	14	1	3	360	3	PDCD2L	19	34900075	Missense_Mutation	SNP	A	TCGA-DU-7015-01A-11D-2024-08	28192210	34900075	24228908	32	3929											
ADNP	23394	broad.mit.edu	37	chr20	49508437	49508437	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggttcctcagtcaaatgaatAgtttcgtattttgaaccatc	11	15	7	8	1	2	2	2	2	0	0	5	2	3	2	2	1	1	3	2	1	5	6			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr20:49508437A>G	uc002xvt.1	-	4	3159	c.2814T>C	c.(2812-2814)acT>acC	p.T938T	ADNP_uc002xvu.1_Silent_p.T938T	NM_015339	NP_852107	Q9H2P0	ADNP_HUMAN	Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.	938						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TCAAATGAATAGTTTCGTATT	0.423													13	165					0	0	1	0	0	G	49508437	A	G	49508437	2	3	89	1	0	0	0	0	0	0	0	1	323	407	15	4		4	ADNP	20	49508437	Silent	SNP	A	TCGA-DU-7015-01A-11D-2024-08		49508437	13517083	33	3930											
TXNRD2	10587	broad.mit.edu	37	chr22	19929320	19929321	+	Frame_Shift_Del	DEL	CC	CC	-																															ccgcagcgccaccgccattgCcgccatcgtcgtggggcttc																										TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr22:19929320_19929321delCC	uc021wlj.1	-	0	39_40	c.6_7delGG	c.(4-9)gcggcafs	p.A2fs	TXNRD2_uc002zqo.1_Non-coding_Transcript|TXNRD2_uc002zqr.1_Frame_Shift_Del_p.A2fs|TXNRD2_uc010grv.1_Frame_Shift_Del_p.A2fs|COMT_uc002zqu.3_5'UTR	NM_006440		Q9NNW7	TRXR2_HUMAN	Homo sapiens thioredoxin reductase 2 (TXNRD2), nuclear gene encoding mitochondrial protein, mRNA.	2					cell redox homeostasis|response to oxygen radical	mitochondrion	NADP binding|flavin adenine dinucleotide binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					ACCGCCATTGCCGCCATCGTCG	0.797													2	4	---	---	---	---						-	19929321	CC	-	19929320	7	5	89	1	0	1	0	1	0	0	0	0	16805	739	26	0	1635	0	TXNRD2	22	19929320	Frame_Shift_Del	DEL	CC	TCGA-DU-7015-01A-11D-2024-08		19929320	31375246	34	3931											
WWC3	55841	broad.mit.edu	37	chrX	10085416	10085416	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcgggcttccacaagcaGaggcggtccctggacacgcc	7	5	12	17	3	0	1	0	0	0	1	3	2	2	2	4	4	1	2	4	4	1	1			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chrX:10085416G>T	uc004csx.4	+	10	1515	c.1317G>T	c.(1315-1317)caG>caT	p.Q439H	WWC3_uc010nds.3_Missense_Mutation_p.Q103H|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	439	Ser-rich.									NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TCCACAAGCAGAGGCGGTCCC	0.672													12	32					7.03913e-09	7.03913e-09	1	1	0	T	10085416	G	T	10085416	3	4	89	1	0	0	0	0	1	0	0	0	17410	933	33	5	1355	5	WWC3	23	10085416	Missense_Mutation	SNP	G	TCGA-DU-7015-01A-11D-2024-08		10085416	145185144	35	3932											
EDA	1896	broad.mit.edu	37	chrX	68836453	68836453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggcctcgaccctgacagcCccatcaccagtcaccttggg	7	7	10	17	1	2	1	2	1	0	0	3	2	2	1	6	2	1	0	6	2	0	1	rs41539891		TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chrX:68836453C>T	uc004dxs.3	+	0	543	c.301C>T	c.(301-303)Ccc>Tcc	p.P101S	EDA_uc011mpj.2_Missense_Mutation_p.P101S|EDA_uc004dxr.3_Missense_Mutation_p.P101S|EDA_uc004dxm.1_Missense_Mutation_p.P101S|EDA_uc004dxn.1_Missense_Mutation_p.P101S|EDA_uc004dxp.1_Missense_Mutation_p.P101S|EDA_uc004dxq.1_Missense_Mutation_p.P101S	NM_001399	NP_001390	Q92838	EDA_HUMAN	Homo sapiens ectodysplasin A (EDA), transcript variant 1, mRNA.	101					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						CCCTGACAGCCCCATCACCAG	0.677													26	9					0	0	1	0	0	T	68836453	C	T	68836453	3	4	89	1	0	0	0	0	1	0	0	0	4903	623	22	3	303	3	EDA	23	68836453	Missense_Mutation	SNP	C	TCGA-DU-7015-01A-11D-2024-08	58751037	68836453	86434107	36	3933											
ATRX	546	broad.mit.edu	37	chrX	76939957	76939957	+	Frame_Shift_Del	DEL	T	T	-																															ctgggtgacaaatgtagcaaTaccattggttgttttcatcc																										TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chrX:76939957delT	uc004ecp.4	-	8	1023	c.791delA	c.(790-792)tatfs	p.Y264fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.Y226fs|ATRX_uc004eco.4_Frame_Shift_Del_p.Y49fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.Y225fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.Y264fs|ATRX_uc010nly.1_Frame_Shift_Del_p.Y209fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	264	ADD.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.W263*(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AATGTAGCAATACCATTGGTT	0.398			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						121	58	---	---	---	---						-	76939957	T	-	76939957	7	5	89	1	0	1	0	1	0	0	0	0	1208	1406	49	0	6795	0	ATRX	23	76939957	Frame_Shift_Del	DEL	T	TCGA-DU-7015-01A-11D-2024-08	8103504	76939957	78330603	37	3934											
GPBP1L1	60313	broad.mit.edu	37	chr1	46120875	46120875	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctcacctcctgcagttcgTaggggaccattgttaaaaaa	11	10	10	10	1	1	0	1	0	0	0	3	1	2	1	3	3	1	5	3	3	4	4			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr1:46120875T>C	uc001coq.3	-	4	1538	c.177A>G	c.(175-177)ctA>ctG	p.L59L		NM_021639	NP_067652	Q9HC44	GPBL1_HUMAN	Homo sapiens GC-rich promoter binding protein 1-like 1 (GPBP1L1), mRNA.	59					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					CTGCAGTTCGTAGGGGACCAT	0.453													13	57					0	0	0.020292	0	0	C	46120875	T	C	46120875	2	2	90	1	0	0	0	0	0	0	0	1	6596	1625	57	3		3	GPBP1L1	1	46120875	Silent	SNP	T	TCGA-DU-7018-01A-11D-2024-08		46120875	203129746	1	3935											
SOAT1	6646	broad.mit.edu	37	chr1	179320474	179320474	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttcaacttcattgtcaaTgatagtcggaaaaagccgat	13	12	8	8	2	3	1	3	1	0	0	4	3	3	2	1	1	2	1	1	1	5	4			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr1:179320474T>C	uc001gml.3	+	14	1704	c.1473T>C	c.(1471-1473)aaT>aaC	p.N491N	SOAT1_uc010pni.2_Silent_p.N426N|SOAT1_uc001gmm.3_Silent_p.N433N|SOAT1_uc010pnj.2_Silent_p.N227N|SOAT1_uc010pnk.2_Silent_p.N426N	NM_003101	NP_003092	P35610	SOAT1_HUMAN	Homo sapiens sterol O-acyltransferase 1 (SOAT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	491					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TCATTGTCAATGATAGTCGGA	0.408													19	183					0	0	0.062417	0	0	C	179320474	T	C	179320474	2	2	90	1	0	0	0	0	0	0	0	1	14910	1461	51	3		3	SOAT1	1	179320474	Silent	SNP	T	TCGA-DU-7018-01A-11D-2024-08	133199599	179320474	69930147	2	3936											
KRTCAP3	200634	broad.mit.edu	37	chr2	27666916	27666916	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgggcatcacagagaagttGggtttaggacaggtaatggg	11	8	16	6	1	1	1	1	0	0	1	1	3	1	2	1	5	0	4	1	5	3	4			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr2:27666916G>A	uc002rks.3	+	5	763	c.716G>A	c.(715-717)tGg>tAg	p.W239*	KRTCAP3_uc010ylr.2_Nonsense_Mutation_p.W239*|KRTCAP3_uc021vfd.1_Nonsense_Mutation_p.W239*|KRTCAP3_uc002rkt.3_Nonsense_Mutation_p.W221*	NM_173853	NP_776252	Q53RY4	KCP3_HUMAN	Homo sapiens keratinocyte associated protein 3 (KRTCAP3), transcript variant 2, mRNA.	239						integral to membrane				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					CAGAGAAGTTGGGTTTAGGAC	0.483													4	21					0	0	0.009096	0	0	A	27666916	G	A	27666916	4	1	90	1	0	0	0	0	0	1	0	0	8579	1357	47	3	738	3	KRTCAP3	2	27666916	Nonsense_Mutation	SNP	G	TCGA-DU-7018-01A-11D-2024-08		27666916	215532457	3	3937											
SMYD1	150572	broad.mit.edu	37	chr2	88393054	88393054	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcatgaggcagtgaaatcCatgtttcatacccagatgag	13	10	10	8	0	2	4	2	3	0	1	3	4	3	4	2	1	1	2	2	1	2	2			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr2:88393054C>G	uc002ssr.3	+	4	763	c.678C>G	c.(676-678)tcC>tcG	p.S226S	SMYD1_uc002ssq.2_Intron|SMYD1_uc002sss.3_Intron	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA.	226	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CAGTGAAATCCATGTTTCATA	0.493													14	69					0	0	0.0333	0	0	G	88393054	C	G	88393054	2	3	90	1	0	0	0	0	0	0	0	1	14821	581	21	5		5	SMYD1	2	88393054	Silent	SNP	C	TCGA-DU-7018-01A-11D-2024-08	60726138	88393054	154806319	4	3938											
ITPRIPL1	150771	broad.mit.edu	37	chr2	96993753	96993753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcttgctacggctgcccCtcacggactgggcccacaac	7	7	9	18	2	2	0	1	0	1	0	2	1	2	1	4	3	4	2	4	3	2	2			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr2:96993753C>T	uc002svy.3	+	0	1819	c.1408C>T	c.(1408-1410)Ctc>Ttc	p.L470F	ITPRIPL1_uc002svx.3_Missense_Mutation_p.L462F|ITPRIPL1_uc010yuk.2_Missense_Mutation_p.L454F|ITPRIPL1_uc010yul.2_Missense_Mutation_p.L454F	NM_178495	NP_001156996	Q6GPH6	IPIL1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein-like 1 (ITPRIPL1), transcript variant 1, mRNA.	462						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACGGCTGCCCCTCACGGACTG	0.567													17	83					0	0	0.028581	0	0	T	96993753	C	T	96993753	3	4	90	1	0	0	0	0	1	0	0	0	7924	681	24	3	1424	3	ITPRIPL1	2	96993753	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08	8600699	96993753	146205620	5	3939											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								41	44					0	0	0.045515	0	0	T	209113112	C	T	209113112	3	4	90	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08	112119359	209113112	34086261	6	3940											
SMARCAL1	50485	broad.mit.edu	37	chr2	217279430	217279430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcatttctctgtgaaaatGtccttgcctcttacagagga	11	13	8	9	0	2	2	0	1	2	1	4	3	3	3	2	1	3	1	2	1	4	3			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr2:217279430G>A	uc002vgc.4	+	2	333	c.3G>A	c.(1-3)atG>atA	p.M1I	SMARCAL1_uc002vgd.4_Missense_Mutation_p.M1I|SMARCAL1_uc010fvg.3_Missense_Mutation_p.M1I	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.	1					DNA metabolic process|chromatin modification|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CTGTGAAAATGTCCTTGCCTC	0.413									Schimke Immuno-Osseous Dysplasia				10	55					0	0	0.058154	0	0	A	217279430	G	A	217279430	3	1	90	1	0	0	0	0	1	0	0	0	14773	1377	48	3	5	3	SMARCAL1	2	217279430	Missense_Mutation	SNP	G	TCGA-DU-7018-01A-11D-2024-08	8166318	217279430	25919943	7	3941											
RUFY4	285180	broad.mit.edu	37	chr2	218954072	218954072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttggccgattttctcggCggtatccatgcaggtaaagg	7	13	12	9	3	2	0	0	0	2	0	4	1	3	0	2	5	1	3	2	5	3	5			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr2:218954072C>T	uc010fvl.2	+	11	2118	c.1600C>T	c.(1600-1602)Cgg>Tgg	p.R534W	RUFY4_uc002vgw.3_Missense_Mutation_p.R361W	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN	Homo sapiens RUN and FYVE domain containing 4 (RUFY4), transcript variant 1, mRNA.	534							metal ion binding	p.S534C(1)		endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		ATTTTCTCGGCGGTATCCATG	0.602													6	28					0	0	0.021553	0	0	T	218954072	C	T	218954072	3	4	90	1	0	0	0	0	1	0	0	0	13741	759	27	1	1638	1	RUFY4	2	218954072	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08	1674642	218954072	24245301	8	3942											
PIK3CA	5290	broad.mit.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacacgagatcctctctctGaaatcactgagcaggagaaa	14	8	8	11	1	3	4	1	2	2	2	5	6	4	4	1	1	2	1	1	1	3	1	rs121913273		TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr3:178936082G>A	uc003fjk.3	+	9	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(1231)|p.E542Q(18)|p.E542V(8)|p.(542_545)E>K(4)|p.E542G(2)|p.E542A(2)|p.S541T(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			6	39					0	0	0.02938	0	0	A	178936082	G	A	178936082	3	1	90	1	0	0	0	0	1	0	0	0	11913	1291	45	3	1658	3	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-DU-7018-01A-11D-2024-08		178936082	19086348	9	3943											
DAB2	1601	broad.mit.edu	37	chr5	39381673	39381673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcctgaaggttctgagaCgggaggagcaaagatgtctg	10	8	16	7	1	2	3	0	2	2	2	2	6	2	5	1	4	1	2	1	4	2	1			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr5:39381673C>T	uc003jlx.3	-	10	1918	c.1387G>A	c.(1387-1389)Gtc>Atc	p.V463I	DAB2_uc003jlw.3_Missense_Mutation_p.V442I	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	463					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	p.P462P(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GGTTCTGAGACGGGAGGAGCA	0.542													21	98					0	0	0.069288	0	0	T	39381673	C	T	39381673	3	4	90	1	0	0	0	0	1	0	0	0	4218	536	19	1	941	1	DAB2	5	39381673	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08		39381673	141533587	10	3944											
RNF180	285671	broad.mit.edu	37	chr5	63509839	63509840	+	Frame_Shift_Del	DEL	AT	AT	-																															agcttttcatagaaaatcacAtagtttggatctgaacatca																								rs146938584	byFrequency	TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr5:63509839_63509840delAT	uc003jti.3	+	3	796_797	c.686_687delAT	c.(685-687)catfs	p.H229fs	RNF180_uc003jth.4_Frame_Shift_Del_p.H229fs|RNF180_uc010iws.3_Intron	NM_001113561	NP_001107033	Q86T96	RN180_HUMAN	Homo sapiens ring finger protein 180 (RNF180), transcript variant 1, mRNA.	229						integral to membrane|nuclear envelope	zinc ion binding			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		AGAAAATCACATAGTTTGGATC	0.386													19	115	---	---	---	---						-	63509840	AT	-	63509839	7	5	90	1	0	1	0	1	0	0	0	0	13464	217	8	0	696	0	RNF180	5	63509839	Frame_Shift_Del	DEL	AT	TCGA-DU-7018-01A-11D-2024-08	24128166	63509839	117405421	11	3945											
SNCAIP	9627	broad.mit.edu	37	chr5	121786734	121786734	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccttggcatcagggggacGcaggtttcctttcagcatca	8	10	11	12	1	3	0	3	0	0	0	4	1	4	1	2	4	1	4	2	4	0	3	rs146515227	by1000genomes	TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr5:121786734G>A	uc003ksw.1	+	9	2398	c.2192G>A	c.(2191-2193)cGc>cAc	p.R731H	SNCAIP_uc011cwl.1_Missense_Mutation_p.R289H|SNCAIP_uc003ksy.1_Missense_Mutation_p.R365H|SNCAIP_uc003ksx.1_Missense_Mutation_p.R778H|SNCAIP_uc003ksz.1_Missense_Mutation_p.R365H|SNCAIP_uc010jcu.2_Missense_Mutation_p.R327H|SNCAIP_uc011cwm.1_Missense_Mutation_p.R365H|SNCAIP_uc003kta.1_Missense_Mutation_p.R363H|SNCAIP_uc010jcv.1_Non-coding_Transcript|SNCAIP_uc010jcw.1_Missense_Mutation_p.R425H|SNCAIP_uc010jcx.1_Missense_Mutation_p.R671H|BC029465_uc003ktb.1_Intron|SNCAIP_uc003ktc.1_Missense_Mutation_p.R247H	NM_005460	NP_005451	Q9Y6H5	SNCAP_HUMAN	Homo sapiens synuclein, alpha interacting protein (SNCAIP), transcript variant 1, mRNA.	731					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TCAGGGGGACGCAGGTTTCCT	0.542													5	62					0	0	0.014758	0	0	A	121786734	G	A	121786734	3	1	90	1	0	0	0	0	1	0	0	0	14841	1087	38	1	2226	1	SNCAIP	5	121786734	Missense_Mutation	SNP	G	TCGA-DU-7018-01A-11D-2024-08	58276895	121786734	59128526	12	3946											
IL9	3578	broad.mit.edu	37	chr5	135231431	135231431	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttgatgtccaggatcccCgccaaggttggacacccctg	9	8	11	13	1	0	1	0	1	0	0	2	3	2	3	6	3	0	2	6	3	2	2			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr5:135231431C>T	uc003lbb.1	-	0	86	c.75G>A	c.(73-75)gcG>gcA	p.A25A		NM_000590	NP_000581	P15248	IL9_HUMAN	Homo sapiens interleukin 9 (IL9), mRNA.	25					immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity			large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCAGGATCCCCGCCAAGGTTG	0.567													6	80					0	0	0.021553	0	0	T	135231431	C	T	135231431	2	4	90	1	0	0	0	0	0	0	0	1	7707	639	23	2		2	IL9	5	135231431	Silent	SNP	C	TCGA-DU-7018-01A-11D-2024-08	13444697	135231431	45683829	13	3947											
PCDHGC5	56097	broad.mit.edu	37	chr5	140801469	140801469	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgatcccatccgaaagggCgcagttcccattcgtgtggt	7	9	13	12	4	0	0	0	0	0	0	4	2	3	0	3	3	0	2	3	3	1	2			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr5:140801469C>T	uc003lkq.2	+	0	933	c.675C>T	c.(673-675)ggC>ggT	p.G225G	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Silent_p.G225G|PCDHGC5_uc003lkp.2_Silent_p.G225G	NM_018914	NP_061737	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA.	224	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G224V(1)|p.G225G(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGAAAGGGCGCAGTTCCCA	0.527													5	66					0	0	0.014758	0	0	T	140801469	C	T	140801469	2	4	90	1	0	0	0	0	0	0	0	1	11571	755	27	1		1	PCDHGC5	5	140801469	Silent	SNP	C	TCGA-DU-7018-01A-11D-2024-08	5570038	140801469	40113791	14	3948											
RBM22	55696	broad.mit.edu	37	chr5	150073655	150073655	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccttccccatttcacattCagtctgcggccatttacaat	9	13	4	15	1	3	0	2	0	1	0	4	0	4	0	4	1	2	0	4	1	2	5			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr5:150073655C>T	uc003lst.3	-	7	1016	c.894G>A	c.(892-894)ctG>ctA	p.L298L		NM_018047	NP_060517	Q9NW64	RBM22_HUMAN	Homo sapiens RNA binding motif protein 22 (RBM22), mRNA.	298	RRM.				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	RNA binding|calcium-dependent protein binding|nucleotide binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTTCACATTCAGTCTGCGGC	0.398													5	129					0	0	0.014758	0	0	T	150073655	C	T	150073655	2	4	90	1	0	0	0	0	0	0	0	1	13122	813	29	3		3	RBM22	5	150073655	Silent	SNP	C	TCGA-DU-7018-01A-11D-2024-08	9272186	150073655	30841605	15	3949											
CPEB4	80315	broad.mit.edu	37	chr5	173317440	173317440	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcacagcaccacccacAtcaccctcatttccagcatc	10	9	2	20	0	4	0	3	0	1	0	7	0	5	0	4	0	2	2	4	0	0	1			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr5:173317440A>T	uc003mcs.4	+	0	2110	c.704A>T	c.(703-705)cAt>cTt	p.H235L	CPEB4_uc010jju.2_Missense_Mutation_p.H235L|CPEB4_uc010jjv.3_Missense_Mutation_p.H235L|CPEB4_uc011dfg.2_Missense_Mutation_p.H235L|CPEB4_uc003mcu.4_5'Flank	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 4 (CPEB4), mRNA.	235	His-rich.						RNA binding|nucleotide binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CACCACCCACATCACCCTCAT	0.537													18	104					0	0	0.0333	0	0	T	173317440	A	T	173317440	3	4	90	1	0	0	0	0	1	0	0	0	3803	217	8	5	706	5	CPEB4	5	173317440	Missense_Mutation	SNP	A	TCGA-DU-7018-01A-11D-2024-08	23243785	173317440	7597820	16	3950											
RNF130	55819	broad.mit.edu	37	chr5	179393937	179393937	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggtcgccgagggctgatCttcggttaacagcttgggtt	6	11	15	9	4	1	1	0	1	1	0	3	3	1	1	1	4	2	4	1	4	1	4			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr5:179393937C>A	uc003mll.1	-	6	1426	c.1019G>T	c.(1018-1020)aGa>aTa	p.R340I	RNF130_uc003mlm.1_Missense_Mutation_p.R340I	NM_018434	NP_060904	Q86XS8	GOLI_HUMAN	Homo sapiens ring finger protein 130 (RNF130), mRNA.	340					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGGGCTGATCTTCGGTTAAC	0.517													5	91					3.59834e-05	3.81642e-05	0.021553	1	0	A	179393937	C	A	179393937	3	1	90	1	0	0	0	0	1	0	0	0	13438	913	32	5	252	5	RNF130	5	179393937	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08	6076497	179393937	1521323	17	3951											
NKAPL	222698	broad.mit.edu	37	chr6	28228259	28228259	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgagaagagagctcttgcAtcctttaaccaagaagagag	15	8	11	7	0	1	4	0	1	1	4	2	8	2	4	2	0	3	2	2	0	4	3			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr6:28228259A>G	uc003nkt.3	+	0	1162	c.1110A>G	c.(1108-1110)gcA>gcG	p.A370A	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	Homo sapiens NFKB activating protein-like (NKAPL), mRNA.	370										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GAGCTCTTGCATCCTTTAACC	0.443													45	53					0	0	0.045515	0	0	G	28228259	A	G	28228259	2	3	90	1	0	0	0	0	0	0	0	1	10440	204	8	3		3	NKAPL	6	28228259	Silent	SNP	A	TCGA-DU-7018-01A-11D-2024-08		28228259	142886808	18	3952											
PPP1R3A	5506	broad.mit.edu	37	chr7	113517991	113517991	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttcctcaacaggaagactAgtagaagcagagctgtcaga	14	8	10	9	0	2	4	2	0	0	4	3	5	3	5	1	1	3	3	1	1	5	3			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr7:113517991A>G	uc010ljy.1	-	3	3187	c.3156T>C	c.(3154-3156)acT>acC	p.T1052T		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	1052					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CAGGAAGACTAGTAGAAGCAG	0.368													99	124					0	0	0.048971	0	0	G	113517991	A	G	113517991	2	3	90	1	0	0	0	0	0	0	0	1	12371	407	15	4		4	PPP1R3A	7	113517991	Silent	SNP	A	TCGA-DU-7018-01A-11D-2024-08		113517991	45620672	19	3953											
MYOM2	9172	broad.mit.edu	37	chr8	2021511	2021511	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acctgcacaaggacgacgagGgcctgtacaccctgcgcatc	10	5	11	15	3	0	0	0	0	0	0	1	3	0	1	3	2	3	3	3	2	2	1			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr8:2021511G>T	uc003wpx.4	+	9	1189	c.1051G>T	c.(1051-1053)Ggc>Tgc	p.G351C	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	351	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle	p.E350D(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GGACGACGAGGGCCTGTACAC	0.602													12	44					4.3838e-07	4.79478e-07	0.105934	1	0	T	2021511	G	T	2021511	3	4	90	1	0	0	0	0	1	0	0	0	10092	1232	43	5	1085	5	MYOM2	8	2021511	Missense_Mutation	SNP	G	TCGA-DU-7018-01A-11D-2024-08		2021511	144342511	20	3954											
MRPL15	29088	broad.mit.edu	37	chr8	55049886	55049889	+	Frame_Shift_Del	DEL	GGTC	GGTC	-																															tgcagtatcttattgatttgGgtcgtgttgatcctagtcaa																								rs144260791		TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr8:55049886_55049889delGGTC	uc003xsa.2	+	2	385_388	c.322_325delGGTC	c.(322-327)ggtcgtfs	p.G108fs		NM_014175	NP_054894	Q9P015	RM15_HUMAN	Homo sapiens mitochondrial ribosomal protein L15 (MRPL15), nuclear gene encoding mitochondrial protein, mRNA.	108					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			TATTGATTTGGGTCGTGTTGATCC	0.426													28	60	---	---	---	---						-	55049889	GGTC	-	55049886	7	5	90	1	0	1	0	1	0	0	0	0	9780	1232	43	0	332	0	MRPL15	8	55049886	Frame_Shift_Del	DEL	GGTC	TCGA-DU-7018-01A-11D-2024-08	53028375	55049886	91314136	21	3955											
PRDM14	63978	broad.mit.edu	37	chr8	70978498	70978498	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccagatggctgcttcccCggctctgtgacctgaaggct	5	9	13	14	1	1	3	0	2	1	1	2	3	2	3	4	4	1	4	4	4	1	1			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr8:70978498C>T	uc003xym.3	-	4	1357	c.1155G>A	c.(1153-1155)ccG>ccA	p.P385P		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GCTGCTTCCCCGGCTCTGTGA	0.537													8	76					0	0	0.047766	0	0	T	70978498	C	T	70978498	2	4	90	1	0	0	0	0	0	0	0	1	12455	639	23	2		2	PRDM14	8	70978498	Silent	SNP	C	TCGA-DU-7018-01A-11D-2024-08	15928612	70978498	75385524	22	3956											
VPS13B	157680	broad.mit.edu	37	chr8	100589785	100589785	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggacttcttcctaagtgTggctcaagttcaactcttac	8	14	7	12	0	4	0	2	0	2	0	5	1	5	1	2	2	2	2	2	2	4	5			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr8:100589785T>C	uc003yiv.3	+	32	5330	c.5219T>C	c.(5218-5220)gTg>gCg	p.V1740A	VPS13B_uc003yiw.3_Missense_Mutation_p.V1715A	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1740			Missing (in COH1).		protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCCTAAGTGTGGCTCAAGTT	0.388													10	87					0	0	0.069234	0	0	C	100589785	T	C	100589785	3	2	90	1	0	0	0	0	1	0	0	0	17187	1696	59	3	5539	3	VPS13B	8	100589785	Missense_Mutation	SNP	T	TCGA-DU-7018-01A-11D-2024-08	29611287	100589785	45774237	23	3957											
NOTCH1	4851	broad.mit.edu	37	chr9	139392000	139392000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccgggcggccagaaacaggGgtgtctcctcctgggggatg	6	6	17	12	2	1	1	0	0	1	1	3	2	2	2	4	6	1	0	4	6	1	0			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr9:139392000G>A	uc004chz.3	-	33	6191	c.6191C>T	c.(6190-6192)cCc>cTc	p.P2064L		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	2064					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGAAACAGGGGTGTCTCCTC	0.677			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			3	20					0	0	0.009096	0	0	A	139392000	G	A	139392000	3	1	90	1	0	0	0	0	1	0	0	0	10547	1232	43	3	1480	3	NOTCH1	9	139392000	Missense_Mutation	SNP	G	TCGA-DU-7018-01A-11D-2024-08		139392000	1821431	24	3958											
TACR2	6865	broad.mit.edu	37	chr10	71164757	71164757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcgtggagagggaggtcGtgggagtcagctcgagctta	7	9	17	8	3	2	1	1	0	1	1	5	5	2	3	0	4	2	2	0	4	1	1	rs149794645		TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr10:71164757G>A	uc001jpn.2	-	4	1617	c.1022C>T	c.(1021-1023)aCg>aTg	p.T341M	TACR2_uc001jpm.2_Missense_Mutation_p.T129M	NM_001057	NP_001048	P21452	NK2R_HUMAN	Homo sapiens tachykinin receptor 2 (TACR2), mRNA.	341					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	GAGGGAGGTCGTGGGAGTCAG	0.627													4	84					0	0	0.009096	0	0	A	71164757	G	A	71164757	3	1	90	1	0	0	0	0	1	0	0	0	15503	1145	40	1	178	1	TACR2	10	71164757	Missense_Mutation	SNP	G	TCGA-DU-7018-01A-11D-2024-08		71164757	64369990	25	3959											
CLRN3	119467	broad.mit.edu	37	chr10	129690850	129690850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctttggttctgcaagtcCgtgactcaattcttcactac	7	17	6	11	1	5	1	2	1	3	0	6	1	6	1	1	1	2	2	1	1	3	6			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr10:129690850C>T	uc001lka.1	-	0	362	c.199G>A	c.(199-201)Gga>Aga	p.G67R		NM_152311	NP_689524	Q8NCR9	CLRN3_HUMAN	Homo sapiens clarin 3 (CLRN3), mRNA.	67						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				TCTGCAAGTCCGTGACTCAAT	0.368													4	78					0	0	0.009096	0	0	T	129690850	C	T	129690850	3	4	90	1	0	0	0	0	1	0	0	0	3559	661	23	2	493	2	CLRN3	10	129690850	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08	58526093	129690850	5843897	26	3960											
PSMC3	5702	broad.mit.edu	37	chr11	47444498	47444498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaaacttctccttgtggttCattggcaagacaatggcctc	9	13	8	11	0	3	1	2	0	1	1	5	1	3	1	2	3	1	2	2	3	3	4			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr11:47444498C>T	uc001nfh.2	-	6	812	c.618G>A	c.(616-618)atG>atA	p.M206I		NM_002804	NP_002795	P17980	PRS6A_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 3 (PSMC3), mRNA.	206					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCTTGTGGTTCATTGGCAAGA	0.592													18	214					0	0	0.049695	0	0	T	47444498	C	T	47444498	3	4	90	1	0	0	0	0	1	0	0	0	12687	826	29	3	725	3	PSMC3	11	47444498	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08		47444498	87562018	27	3961											
PCNXL3	399909	broad.mit.edu	37	chr11	65393163	65393163	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtgatgtgtgtggtgaTcgccgtgctcaccttcgcca	4	12	13	12	3	1	2	1	2	0	0	3	2	1	2	4	2	1	1	4	2	0	1			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr11:65393163T>G	uc001oey.2	+	18	3176	c.3176T>G	c.(3175-3177)aTc>aGc	p.I1059S	PCNXL3_uc009yqn.3_Missense_Mutation_p.I19S|PCNXL3_uc001oez.2_5'Flank	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.	1059						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TGTGTGGTGATCGCCGTGCTC	0.627											OREG0021084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	17					0	0	0.09319	0	0	G	65393163	T	G	65393163	3	3	90	1	0	0	0	0	1	0	0	0	11593	1435	50	5	3250	5	PCNXL3	11	65393163	Missense_Mutation	SNP	T	TCGA-DU-7018-01A-11D-2024-08	17948665	65393163	69613353	28	3962											
GPR83	10888	broad.mit.edu	37	chr11	94113592	94113592	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgctgctcatggcaaacCagtggaaggcaaagtagagg	13	6	15	7	0	1	1	1	0	0	1	1	2	1	2	1	5	3	5	1	5	4	1			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr11:94113592C>A	uc001pet.2	-	3	1167	c.995G>T	c.(994-996)tGg>tTg	p.W332L		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	332						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CATGGCAAACCAGTGGAAGGC	0.517													68	150					5.26073e-25	6.13751e-25	0.048971	1	0	A	94113592	C	A	94113592	3	1	90	1	0	0	0	0	1	0	0	0	6713	595	21	5	280	5	GPR83	11	94113592	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08	28720429	94113592	40892924	29	3963											
KRT71	112802	broad.mit.edu	37	chr12	52946764	52946764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagccctttgctccctgccCggaaggaggatgagctgccc	6	8	13	14	1	0	2	0	2	0	0	1	5	1	5	4	3	5	2	4	3	1	1			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr12:52946764C>T	uc001sao.3	-	0	168	c.98G>A	c.(97-99)cGg>cAg	p.R33Q		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	33	Gly-rich.|Head.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		GCTCCCTGCCCGGAAGGAGGA	0.652													19	150					0	0	0.043863	0	0	T	52946764	C	T	52946764	3	4	90	1	0	0	0	0	1	0	0	0	8484	652	23	2	1509	2	KRT71	12	52946764	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08		52946764	80905131	30	3964											
FGD6	55785	broad.mit.edu	37	chr12	95604123	95604123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctttctgggcttgggagttgGaaattttggggtatatggta	7	16	15	3	0	1	0	0	0	1	0	1	2	1	2	0	6	0	4	0	6	4	8			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr12:95604123G>A	uc001tdp.4	-	1	1161	c.937C>T	c.(937-939)Cca>Tca	p.P313S	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	313					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TTGGGAGTTGGAAATTTTGGG	0.413													12	143					0	0	0.080935	0	0	A	95604123	G	A	95604123	3	1	90	1	0	0	0	0	1	0	0	0	5837	1174	41	3	3435	3	FGD6	12	95604123	Missense_Mutation	SNP	G	TCGA-DU-7018-01A-11D-2024-08	42657359	95604123	38247772	31	3965											
STAB2	55576	broad.mit.edu	37	chr12	104125353	104125353	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccattcttattatctttgcaGcaaaatcttacgactttggc	10	16	5	10	1	3	0	0	0	3	0	3	1	3	0	1	1	3	2	1	1	5	6			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr12:104125353G>A	uc001tjw.3	+	50	5410	c.5224_splice	c.e50-1	p.Q1742_splice	STAB2_uc009zug.3_Splice_Site	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1742	FAS1 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TATCTTTGCAGCAAAATCTTA	0.343													3	47					0	0	0.009096	0	0	A	104125353	G	A	104125353	5	1	90	1	0	0	0	0	0	0	1	0	15237	985	34	3	5421	3	STAB2	12	104125353	Splice_Site	SNP	G	TCGA-DU-7018-01A-11D-2024-08	8521230	104125353	29726542	32	3966											
POTEG	404785	broad.mit.edu	37	chr14	19553818	19553818	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatggagccgaggtaccaCgtccgtcgagaagatctgga	10	8	13	10	4	2	2	1	0	1	2	4	6	3	4	3	3	2	1	3	3	2	2			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr14:19553818C>T	uc001vuz.1	+	0	454	c.402C>T	c.(400-402)caC>caT	p.H134H	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	134										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CGAGGTACCACGTCCGTCGAG	0.587													30	348					0	0	0.045515	0	0	T	19553818	C	T	19553818	2	4	90	1	0	0	0	0	0	0	0	1	12266	535	19	1		1	POTEG	14	19553818	Silent	SNP	C	TCGA-DU-7018-01A-11D-2024-08		19553818	87795722	33	3967											
TCF12	6938	broad.mit.edu	37	chr15	57555366	57555369	+	Frame_Shift_Del	DEL	AAAG	AAAG	-																															cagaaatcaagactgaaaacAaagaaaaggatgaaaacctt																										TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr15:57555366_57555369delAAAG	uc002aec.3	+	16	1851_1854	c.1567_1570delAAAG	c.(1567-1572)aaagaafs	p.K523fs	TCF12_uc010ugm.1_Frame_Shift_Del_p.K575fs|TCF12_uc010ugn.1_Frame_Shift_Del_p.K543fs|TCF12_uc002aea.3_Frame_Shift_Del_p.K547fs|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Frame_Shift_Del_p.K547fs|TCF12_uc002aed.3_Frame_Shift_Del_p.K523fs|TCF12_uc010ugo.2_Frame_Shift_Del_p.K287fs|TCF12_uc002aee.3_Frame_Shift_Del_p.K353fs|TCF12_uc010bft.3_Frame_Shift_Del_p.K377fs|TCF12_uc010ugp.2_Frame_Shift_Del_p.K181fs|TCF12_uc010ugq.2_Frame_Shift_Del_p.K157fs|TCF12_uc010ugr.1_Frame_Shift_Del_p.K136fs	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	523				K -> E (in Ref. 3; CAD89914).	immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GACTGAAAACAAAGAAAAGGATGA	0.382			T	TEC	extraskeletal myxoid chondrosarcoma								22	28	---	---	---	---						-	57555369	AAAG	-	57555366	7	5	90	1	0	1	0	1	0	0	0	0	15684	131	5	0	1778	0	TCF12	15	57555366	Frame_Shift_Del	DEL	AAAG	TCGA-DU-7018-01A-11D-2024-08		57555366	44976026	34	3968											
PDE8A	5151	broad.mit.edu	37	chr15	85681058	85681058	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcctgatttaatgcagcAtcttgacaacaactttaaat	13	13	5	10	0	1	2	0	2	1	0	1	2	1	2	2	0	5	2	2	0	5	5			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr15:85681058A>G	uc002blh.3	+	21	2603	c.2414A>G	c.(2413-2415)cAt>cGt	p.H805R	PDE8A_uc021stv.1_Missense_Mutation_p.H733R|PDE8A_uc002bli.3_Missense_Mutation_p.H759R|PDE8A_uc010bnc.3_Missense_Mutation_p.H558R|PDE8A_uc010bnd.3_Missense_Mutation_p.H558R|PDE8A_uc002blj.3_Missense_Mutation_p.H425R|PDE8A_uc002blk.3_Missense_Mutation_p.H425R|PDE8A_uc002bll.3_Missense_Mutation_p.H157R	NM_002605	NP_001230066	O60658	PDE8A_HUMAN	Homo sapiens phosphodiesterase 8A (PDE8A), transcript variant 1, mRNA.	805	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			TTAATGCAGCATCTTGACAAC	0.463													10	37					0	0	0.058154	0	0	G	85681058	A	G	85681058	3	3	90	1	0	0	0	0	1	0	0	0	11653	217	8	3	2500	3	PDE8A	15	85681058	Missense_Mutation	SNP	A	TCGA-DU-7018-01A-11D-2024-08	28125692	85681058	16850334	35	3969											
HS3ST6	64711	broad.mit.edu	37	chr16	1962181	1962181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctccatggtgatctgccCatccagggttcggggcatca	6	11	11	13	1	3	1	1	1	2	0	6	1	4	1	3	4	1	2	3	4	0	2			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr16:1962181C>T	uc002cnf.3	-	1	346	c.346G>A	c.(346-348)Ggg>Agg	p.G116R	TCRBV20S1_uc021tak.1_Intron	NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 6 (HS3ST6), mRNA.	116										endometrium(2)|lung(2)	4						GTGATCTGCCCATCCAGGGTT	0.687													6	12					0	0	0.021553	0	0	T	1962181	C	T	1962181	3	4	90	1	0	0	0	0	1	0	0	0	7369	594	21	3	593	3	HS3ST6	16	1962181	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08		1962181	88392572	36	3970											
OR1A1	8383	broad.mit.edu	37	chr17	3119139	3119139	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgacatcttcttctcatcGgtaaccatccctaagatgct	9	14	6	12	1	3	2	1	1	3	1	6	2	4	2	2	1	2	3	2	1	2	5	rs113780617		TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr17:3119139G>A	uc010vrc.2	+	0	225	c.225G>A	c.(223-225)tcG>tcA	p.S75S		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA.	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TCTTCTCATCGGTAACCATCC	0.483													20	179					0	0	0.049695	0	0	A	3119139	G	A	3119139	2	1	90	1	0	0	0	0	0	0	0	1	10949	1103	39	2		2	OR1A1	17	3119139	Silent	SNP	G	TCGA-DU-7018-01A-11D-2024-08		3119139	78076071	37	3971											
PLCD3	113026	broad.mit.edu	37	chr17	43194022	43194022	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggggatggcagctcctcggGatttggggagtccagcgcct	5	9	17	10	2	0	0	0	0	0	0	3	3	2	3	3	6	2	2	3	6	0	1			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr17:43194022G>T	uc002iib.3	-	7	1504	c.1390C>A	c.(1390-1392)Ccc>Acc	p.P464T		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	Homo sapiens phospholipase C, delta 3 (PLCD3), mRNA.	464	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	AGCTCCTCGGGATTTGGGGAG	0.692													29	34					1.61788e-16	1.85658e-16	0.050027	1	0	T	43194022	G	T	43194022	3	4	90	1	0	0	0	0	1	0	0	0	12032	1174	41	5	1010	5	PLCD3	17	43194022	Missense_Mutation	SNP	G	TCGA-DU-7018-01A-11D-2024-08	40074883	43194022	38001188	38	3972											
OR4D2	124538	broad.mit.edu	37	chr17	56247641	56247641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgggctgctggatgtcGtctggttcttcctcctcctg	3	14	12	12	1	2	0	0	0	2	0	6	1	5	1	3	3	1	3	3	3	0	2	rs149114670		TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr17:56247641G>A	uc010wnp.2	+	0	625	c.625G>A	c.(625-627)Gtc>Atc	p.V209I		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V209I(4)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						GCTGGATGTCGTCTGGTTCTT	0.527													17	72					0	0	0.0333	0	0	A	56247641	G	A	56247641	3	1	90	1	0	0	0	0	1	0	0	0	11056	1145	40	1	627	1	OR4D2	17	56247641	Missense_Mutation	SNP	G	TCGA-DU-7018-01A-11D-2024-08	13053619	56247641	24947569	39	3973											
SMARCA4	6597	broad.mit.edu	37	chr19	11144121	11144121	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtgatccaggccggcatgttCgaccagaagtcctccagcca	9	7	11	14	2	0	2	0	1	0	1	4	3	3	2	6	2	1	2	6	2	1	1			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr19:11144121C>G	uc010dxp.3	+	26	4062	c.3702C>G	c.(3700-3702)ttC>ttG	p.F1234L	SMARCA4_uc010dxo.3_Missense_Mutation_p.F1234L|SMARCA4_uc002mqf.4_Missense_Mutation_p.F1234L|SMARCA4_uc010dxq.3_Missense_Mutation_p.F1234L|SMARCA4_uc010dxr.3_Missense_Mutation_p.F1234L|SMARCA4_uc002mqj.4_Missense_Mutation_p.F1234L|SMARCA4_uc010dxs.3_Missense_Mutation_p.F1234L|SMARCA4_uc010dxt.1_Missense_Mutation_p.F454L|SMARCA4_uc002mqh.4_Missense_Mutation_p.F357L|SMARCA4_uc002mqi.1_Missense_Mutation_p.F437L	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	1234	Helicase C-terminal.				chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.F1234L(2)|p.M1233I(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGGCATGTTCGACCAGAAGT	0.637			"F, N, Mis"		NSCLC								24	69					0	0	0.099896	0	0	G	11144121	C	G	11144121	3	3	90	1	0	0	0	0	1	0	0	0	14770	883	31	5	3800	5	SMARCA4	19	11144121	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08		11144121	47984862	40	3974											
ZNF91	7644	broad.mit.edu	37	chr19	23543197	23543197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttgaagattgattaaaagCtttgccacattcctcacatt	13	15	5	8	0	1	3	1	2	0	1	2	3	2	3	2	0	2	1	2	0	3	6			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr19:23543197C>T	uc002nre.3	-	3	2697	c.2584G>A	c.(2584-2586)Gct>Act	p.A862T	ZNF91_uc002nrd.3_5'Flank|ZNF91_uc010xrj.2_Missense_Mutation_p.A830T	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	862						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGATTAAAAGCTTTGCCACAT	0.358													5	38					0	0	0.021553	0	0	T	23543197	C	T	23543197	3	4	90	1	0	0	0	0	1	0	0	0	18197	797	28	3	995	3	ZNF91	19	23543197	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08	12399076	23543197	35585786	41	3975											
CIC	23152	broad.mit.edu	37	chr19	42791372	42791373	+	Frame_Shift_Del	DEL	AG	AG	-																															ccccggctggacagtgagacAgagagtgaccatgatgatgc																										TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr19:42791372_42791373delAG	uc002otf.1	+	2	472_473	c.432_433delAG	c.(430-435)acagagfs	p.T144fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ACAGTGAGACAGAGAGTGACCA	0.663			"Mis, F, S"		oligodendroglioma								19	8	---	---	---	---						-	42791373	AG	-	42791372	7	5	90	1	0	1	0	1	0	0	0	0	3424	175	7	0	442	0	CIC	19	42791372	Frame_Shift_Del	DEL	AG	TCGA-DU-7018-01A-11D-2024-08	19248175	42791372	16337611	42	3976											
EDEM2	55741	broad.mit.edu	37	chr20	33722668	33722668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaaggtcccaatccctgccGtacaggtgacaggggtctct	8	9	12	12	1	1	2	0	2	1	0	4	2	3	2	3	4	2	1	3	4	3	1			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr20:33722668G>A	uc002xbo.2	-	5	675	c.575C>T	c.(574-576)aCg>aTg	p.T192M	EDEM2_uc010zuv.1_Missense_Mutation_p.T151M|EDEM2_uc010zus.1_5'UTR|EDEM2_uc002xbq.2_Missense_Mutation_p.T155M|EDEM2_uc010zut.1_Missense_Mutation_p.T151M|EDEM2_uc002xbn.2_Missense_Mutation_p.T40M|EDEM2_uc010zuu.1_Intron	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 2 (EDEM2), transcript variant 1, mRNA.	192					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AATCCCTGCCGTACAGGTGAC	0.542													8	58					0	0	0.058154	0	0	A	33722668	G	A	33722668	3	1	90	1	0	0	0	0	1	0	0	0	4912	1145	40	1	1185	1	EDEM2	20	33722668	Missense_Mutation	SNP	G	TCGA-DU-7018-01A-11D-2024-08		33722668	29302852	43	3977											
APOBEC3B	9582	broad.mit.edu	37	chr22	39387537	39387537	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacgtgagactgcgcatcttCgctgcccgcatctatgatta	8	11	9	13	4	2	2	0	2	2	1	3	3	2	2	1	0	2	3	1	0	2	3	rs144471703		TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr22:39387537C>T	uc003awo.1	+	5	978	c.924C>T	c.(922-924)ttC>ttT	p.F308F	APOBEC3B_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Silent_p.F283F|APOBEC3B_uc003awq.1_Non-coding_Transcript	NM_004900	NP_004891	Q9UH17	ABC3B_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B (APOBEC3B), mRNA.	308					negative regulation of transposition		RNA binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					TGCGCATCTTCGCTGCCCGCA	0.572													35	194					0	0	0.059317	0	0	T	39387537	C	T	39387537	2	4	90	1	0	0	0	0	0	0	0	1	790	883	31	2		2	APOBEC3B	22	39387537	Silent	SNP	C	TCGA-DU-7018-01A-11D-2024-08		39387537	11917029	44	3978											
OTUD5	55593	broad.mit.edu	37	chrX	48791845	48791845	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctaacacgaatgggttcGtcctcgttttgatgtatccc	8	14	9	10	3	0	1	0	1	0	0	4	2	2	1	2	1	2	4	2	1	4	6			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chrX:48791845G>A	uc004dlu.3	-	4	1027	c.966C>T	c.(964-966)gaC>gaT	p.D322D	OTUD5_uc004dlt.4_Silent_p.D317D|OTUD5_uc004dlv.3_Silent_p.D317D|OTUD5_uc011mmp.2_Silent_p.D100D	NM_017602	NP_060072	Q96G74	OTUD5_HUMAN	Homo sapiens OTU domain containing 5 (OTUD5), transcript variant 1, mRNA.	322	OTU.				negative regulation of type I interferon production		cysteine-type peptidase activity			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						GAATGGGTTCGTCCTCGTTTT	0.507													13	120					0	0	0.105934	0	0	A	48791845	G	A	48791845	2	1	90	1	0	0	0	0	0	0	0	1	11315	1136	40	1		1	OTUD5	23	48791845	Silent	SNP	G	TCGA-DU-7018-01A-11D-2024-08		48791845	106478715	45	3979											
ESX1	80712	broad.mit.edu	37	chrX	103499230	103499230	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcctctcctccccttgcCatcagcgaggtcacggtaag	6	10	9	16	3	3	0	2	0	1	0	7	1	5	0	5	2	2	1	5	2	1	2			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chrX:103499230C>A	uc004ely.3	-	1	180	c.111G>T	c.(109-111)atG>atT	p.M37I		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	Homo sapiens ESX homeobox 1 (ESX1), mRNA.	37					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CTCCCCTTGCCATCAGCGAGG	0.602													25	198					1.1804e-14	1.33271e-14	0.0918	1	0	A	103499230	C	A	103499230	3	1	90	1	0	0	0	0	1	0	0	0	5263	594	21	5	1121	5	ESX1	23	103499230	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08	54707385	103499230	51771330	46	3980											
SASH3	54440	broad.mit.edu	37	chrX	128914084	128914084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggaggaccatgctgcgccGcaagccctccaatgccagtg	8	6	13	14	2	0	0	0	0	0	0	1	2	1	2	5	2	4	2	5	2	2	0	rs140091268		TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chrX:128914084G>A	uc004euu.3	+	0	193	c.11G>A	c.(10-12)cGc>cAc	p.R4H		NM_018990	NP_061863	O75995	SASH3_HUMAN	Homo sapiens SAM and SH3 domain containing 3 (SASH3), mRNA.	4										breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						ATGCTGCGCCGCAAGCCCTCC	0.577													10	24					0	0	0.080935	0	0	A	128914084	G	A	128914084	3	1	90	1	0	0	0	0	1	0	0	0	13849	1087	38	1	13	1	SASH3	23	128914084	Missense_Mutation	SNP	G	TCGA-DU-7018-01A-11D-2024-08	25414854	128914084	26356476	47	3981											
CLCNKA	1187	broad.mit.edu	37	chr1	16378309	16378309	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatgccaggggggtatgctCtggcaggtgagtgggtcagg	6	9	19	7	0	3	1	2	1	1	0	3	1	3	1	1	7	2	3	1	7	1	1			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr1:16378309C>T	uc001axx.4	+	13	1538	c.1402C>T	c.(1402-1404)Ctg>Ttg	p.L468L	CLCNKA_uc021ogl.1_Silent_p.L115L|CLCNKA_uc021ogm.1_Silent_p.L299L|CLCNKA_uc001axy.4_Silent_p.L299L	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	468					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GGGGTATGCTCTGGCAGGTGA	0.622													30	51					0	0	1	0	0	T	16378309	C	T	16378309	2	4	91	1	0	0	0	0	0	0	0	1	3469	912	32	3		3	CLCNKA	1	16378309	Silent	SNP	C	TCGA-DU-7019-01A-11D-2024-08		16378309	232872312	1	3982											
SPOCD1	90853	broad.mit.edu	37	chr1	32256502	32256502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagggatgctgggactggCgcaagcctggctctgggggc	7	7	18	9	1	1	0	0	0	1	0	1	2	1	2	1	6	2	3	1	6	3	1			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr1:32256502C>T	uc001bts.1	-	15	3411	c.3353G>A	c.(3352-3354)cGc>cAc	p.R1118H	SPOCD1_uc001btr.1_3'UTR|SPOCD1_uc001btu.3_Missense_Mutation_p.R1105H|SPOCD1_uc001btv.3_Missense_Mutation_p.R598H	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	1118					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CTGGGACTGGCGCAAGCCTGG	0.667													5	9					0	0	1	0	0	T	32256502	C	T	32256502	3	4	91	1	0	0	0	0	1	0	0	0	15077	768	27	1	301	1	SPOCD1	1	32256502	Missense_Mutation	SNP	C	TCGA-DU-7019-01A-11D-2024-08	15878193	32256502	216994119	2	3983											
TPR	7175	broad.mit.edu	37	chr1	186302356	186302358	+	In_Frame_Del	DEL	GAG	GAG	-																															ttgattggcaggctcaatctGaggatgactctgttgagtgg																										TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr1:186302356_186302358delGAG	uc001grv.3	-	36	5648_5650	c.5351_5353delCTC	c.(5350-5355)cctcag>cag	p.P1784del	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	1784					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GGCTCAATCTGAGGATGACTCTG	0.443			T	NTRK1	papillary thyroid								24	89	---	---	---	---						-	186302358	GAG	-	186302356	7	5	91	1	0	1	0	1	0	0	0	0	16413	1299	45	0	1798	0	TPR	1	186302356	In_Frame_Del	DEL	GAG	TCGA-DU-7019-01A-11D-2024-08	154045854	186302356	62948265	3	3984											
NEB	4703	broad.mit.edu	37	chr2	152544001	152544004	+	Frame_Shift_Del	DEL	CAAT	CAAT	-																															gtcattaatgctgagggctcCaatcattttccctttgctct																										TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr2:152544001_152544004delCAAT	uc021vrb.1	-	24	2595_2598	c.2566_2569delATTG	c.(2566-2571)attggafs	p.I856fs	NEB_uc002txu.3_Frame_Shift_Del_p.I856fs|NEB_uc021vrc.1_Frame_Shift_Del_p.I856fs|NEB_uc010fnx.3_Frame_Shift_Del_p.I856fs|NEB_uc021vrd.1_Frame_Shift_Del_p.I856fs	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	856					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGAGGGCTCCAATCATTTTCCCT	0.451													15	133	---	---	---	---						-	152544004	CAAT	-	152544001	7	5	91	1	0	1	0	1	0	0	0	0	10302	603	21	0	23741	0	NEB	2	152544001	Frame_Shift_Del	DEL	CAAT	TCGA-DU-7019-01A-11D-2024-08		152544001	90655372	4	3985											
DNAH7	56171	broad.mit.edu	37	chr2	196765182	196765182	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatttcagcaatcatggcatAgtcaggtaccatcattgcta	12	13	7	9	0	4	0	4	0	0	0	4	0	4	0	1	2	3	4	1	2	5	6			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr2:196765182A>G	uc002utj.4	-	27	4473	c.4372T>C	c.(4372-4374)Tat>Cat	p.Y1458H		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1458	AAA 1 (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						ATCATGGCATAGTCAGGTACC	0.418													9	137					0	0	1	0	0	G	196765182	A	G	196765182	3	3	91	1	0	0	0	0	1	0	0	0	4606	420	15	4	7854	4	DNAH7	2	196765182	Missense_Mutation	SNP	A	TCGA-DU-7019-01A-11D-2024-08	44221181	196765182	46434191	5	3986											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								27	38					0	0	1	0	0	T	209113112	C	T	209113112	3	4	91	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7019-01A-11D-2024-08	12347930	209113112	34086261	6	3987											
C3orf24	115795	broad.mit.edu	37	chr3	10146220	10146220	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcctttgttgttcatcgtgCgcaactctgatgtgtggcag	5	15	12	9	2	2	1	1	1	1	0	4	1	3	1	1	1	2	4	1	1	1	3			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr3:10146220C>T	uc003buz.3	-	1	464	c.239G>A	c.(238-240)cGc>cAc	p.R80H	C3orf24_uc003bva.2_Missense_Mutation_p.R80H|C3orf24_uc021wsy.1_Missense_Mutation_p.R80H	NM_173472	NP_775743	Q96PS1	CC024_HUMAN	Homo sapiens chromosome 3 open reading frame 24 (C3orf24), transcript variant 1, mRNA.	80										endometrium(1)|large_intestine(2)|lung(3)	6				OV - Ovarian serous cystadenocarcinoma(96;0.196)		GTTCATCGTGCGCAACTCTGA	0.532													5	50					0	0	1	0	0	T	10146220	C	T	10146220	3	4	91	1	0	0	0	0	1	0	0	0	2217	768	27	1	298	1	C3orf24	3	10146220	Missense_Mutation	SNP	C	TCGA-DU-7019-01A-11D-2024-08		10146220	187876210	7	3988											
SCN5A	6331	broad.mit.edu	37	chr3	38598771	38598771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtccatccagcctttaaatGttgcctgggaggaaaagaca	12	10	10	9	0	0	1	0	0	0	1	2	3	2	3	4	2	2	1	4	2	4	3			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr3:38598771G>A	uc021wvo.1	-	22	4302	c.4250C>T	c.(4249-4251)aCa>aTa	p.T1417I	SCN5A_uc021wvk.1_Missense_Mutation_p.T1416I|SCN5A_uc021wvl.1_Missense_Mutation_p.T1363I|SCN5A_uc021wvm.1_Intron|SCN5A_uc021wvn.1_Missense_Mutation_p.T1416I|SCN5A_uc021wvp.1_Missense_Mutation_p.T1417I|SCN5A_uc021wvq.1_Missense_Mutation_p.T1416I|SCN5A_uc021wvr.1_Missense_Mutation_p.T1417I|SCN5A_uc021wvs.1_Missense_Mutation_p.T1417I|SCN5A_uc021wvt.1_Missense_Mutation_p.T1416I|SCN5A_uc021wvu.1_Missense_Mutation_p.T1363I|SCN5A_uc021wvv.1_Intron|SCN5A_uc021wvj.1_Missense_Mutation_p.T1229I|SCN5A_uc021wvi.1_Missense_Mutation_p.T1283I|SCN5A_uc021wvw.1_Intron	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1417					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCCTTTAAATGTTGCCTGGGA	0.498													7	32					0	0	1	0	0	A	38598771	G	A	38598771	3	1	91	1	0	0	0	0	1	0	0	0	13922	1377	48	3	1820	3	SCN5A	3	38598771	Missense_Mutation	SNP	G	TCGA-DU-7019-01A-11D-2024-08	28452551	38598771	159423659	8	3989											
KIAA1211	57482	broad.mit.edu	37	chr4	57182125	57182125	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacagagttcacgacctcGtcggacagcgagactgcaaa	13	5	10	13	4	1	2	1	0	0	2	3	5	1	3	1	1	2	2	1	1	1	1			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr4:57182125G>A	uc003hbk.2	+	7	2848	c.2457G>A	c.(2455-2457)tcG>tcA	p.S819S	KIAA1211_uc010iha.2_Silent_p.S812S|KIAA1211_uc011bzz.1_Silent_p.S729S|KIAA1211_uc003hbm.1_Silent_p.S705S	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	819										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TCACGACCTCGTCGGACAGCG	0.537													23	62					0	0	1	0	0	A	57182125	G	A	57182125	2	1	91	1	0	0	0	0	0	0	0	1	8215	1132	40	1		1	KIAA1211	4	57182125	Silent	SNP	G	TCGA-DU-7019-01A-11D-2024-08		57182125	133972151	9	3990											
IBSP	3381	broad.mit.edu	37	chr4	88732559	88732561	+	In_Frame_Del	DEL	GAA	GAA	-																															caaaagagaaggaaagtgatGaagaagaagaggaggaagag																										TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr4:88732559_88732561delGAA	uc003hqx.4	+	6	549_551	c.451_453delGAA	c.(451-453)gaadel	p.E158del		NM_004967	NP_004958	P21815	SIAL_HUMAN	Homo sapiens integrin-binding sialoprotein (IBSP), mRNA.	158	Asp/Glu-rich (acidic).|Poly-Glu.				biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		GGAAAGTGATgaagaagaagagg	0.394													8	23	---	---	---	---						-	88732561	GAA	-	88732559	7	5	91	1	0	1	0	1	0	0	0	0	7475	1291	45	0	473	0	IBSP	4	88732559	In_Frame_Del	DEL	GAA	TCGA-DU-7019-01A-11D-2024-08	31550434	88732559	102421717	10	3991											
PRMT10	90826	broad.mit.edu	37	chr4	148594115	148594115	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttacatgataatacctttcGggaatatgttttggaatctc	11	17	7	6	1	1	1	0	1	1	0	3	3	1	3	1	2	2	1	1	2	6	8			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr4:148594115G>T	uc003ilc.3	-	3	880	c.738C>A	c.(736-738)ccC>ccA	p.P246P	PRMT10_uc003ild.3_Silent_p.P133P	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	Homo sapiens protein arginine methyltransferase 10 (putative) (PRMT10), mRNA.	246						cytoplasm	binding|protein methyltransferase activity	p.P246P(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						AATACCTTTCGGGAATATGTT	0.328													29	88					2.48696e-23	2.64915e-23	1	1	0	T	148594115	G	T	148594115	2	4	91	1	0	0	0	0	0	0	0	1	12536	1103	39	5		5	PRMT10	4	148594115	Silent	SNP	G	TCGA-DU-7019-01A-11D-2024-08	59861556	148594115	42560161	11	3992											
CPEB4	80315	broad.mit.edu	37	chr5	173317571	173317574	+	Frame_Shift_Del	DEL	AACA	AACA	-																															ctcatttggcgaataatcttAacaaacccccctctccgtgg																										TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr5:173317571_173317574delAACA	uc003mcs.4	+	0	2241_2244	c.835_838delAACA	c.(835-840)aacaaafs	p.N279fs	CPEB4_uc010jju.2_Frame_Shift_Del_p.N279fs|CPEB4_uc010jjv.3_Frame_Shift_Del_p.N279fs|CPEB4_uc011dfg.2_Frame_Shift_Del_p.N279fs|CPEB4_uc003mcu.4_5'Flank	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 4 (CPEB4), mRNA.	279							RNA binding|nucleotide binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GAATAATCTTAACAAACCCCCCTC	0.574													45	323	---	---	---	---						-	173317574	AACA	-	173317571	7	5	91	1	0	1	0	1	0	0	0	0	3803	362	13	0	837	0	CPEB4	5	173317571	Frame_Shift_Del	DEL	AACA	TCGA-DU-7019-01A-11D-2024-08		173317571	7597689	12	3993											
PRIM2	5558	broad.mit.edu	37	chr6	57185254	57185254	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccttttttcttttttttaGtgttaaaatcagttgaaaat	11	22	4	4	0	2	1	1	1	1	0	2	1	2	1	1	0	1	2	1	0	6	10			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr6:57185254G>T	uc003pdx.3	+	3	242	c.155_splice	c.e3-1	p.L52_splice	PRIM2_uc003pdv.1_Splice_Site_p.L52_splice|PRIM2_uc003pdw.3_Splice_Site_p.L52_splice	NM_000947	NP_000938	P49643	PRI2_HUMAN	Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.	52					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CTTTTTTTTAGTGTTAAAATC	0.328													5	14					1.23904e-05	1.26485e-05	1	1	0	T	57185254	G	T	57185254	5	4	91	1	0	0	0	0	0	0	1	0	12491	1043	36	5	160	5	PRIM2	6	57185254	Splice_Site	SNP	G	TCGA-DU-7019-01A-11D-2024-08		57185254	113929813	13	3994											
PRPS1L1	221823	broad.mit.edu	37	chr7	18067044	18067044	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatggtgatgatatgatccGcacctgctatagagagcata	12	10	10	9	1	0	4	0	3	0	1	1	5	1	4	3	1	2	3	3	1	4	4			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr7:18067044G>A	uc003stz.3	-	0	443	c.362C>T	c.(361-363)gCg>gTg	p.A121V		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	121					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					GATATGATCCGCACCTGCTAT	0.473													43	72					0	0	1	0	0	A	18067044	G	A	18067044	3	1	91	1	0	0	0	0	1	0	0	0	12579	1087	38	1	598	1	PRPS1L1	7	18067044	Missense_Mutation	SNP	G	TCGA-DU-7019-01A-11D-2024-08		18067044	141071619	14	3995											
SNX16	64089	broad.mit.edu	37	chr8	82752142	82752144	+	In_Frame_Del	DEL	CTT	CTT	-																															agacactgccaaaagaagaaCttctttgatttctgtttgtt																								rs142163451		TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr8:82752142_82752144delCTT	uc003ycn.3	-	1	339_341	c.78_80delAAG	c.(76-81)agaagt>agt	p.R26del	SNX16_uc003yco.3_In_Frame_Del_p.R26del|SNX16_uc011lft.2_In_Frame_Del_p.R26del	NM_152836	NP_690049	P57768	SNX16_HUMAN	Homo sapiens sorting nexin 16 (SNX16), transcript variant 2, mRNA.	26					cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						AAAAGAAGAACTTCTTTGATTTC	0.389													40	153	---	---	---	---						-	82752144	CTT	-	82752142	7	5	91	1	0	1	0	1	0	0	0	0	14887	565	20	0	982	0	SNX16	8	82752142	In_Frame_Del	DEL	CTT	TCGA-DU-7019-01A-11D-2024-08		82752142	63611880	15	3996											
LRRC8A	56262	broad.mit.edu	37	chr9	131671134	131671134	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccacaggtggtcacagAtgtgggcgtgcacctgcaga	8	7	15	11	1	1	2	1	0	0	2	1	2	1	2	2	3	3	3	2	3	0	0			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr9:131671134A>G	uc004bwl.4	+	2	1945	c.1691A>G	c.(1690-1692)gAt>gGt	p.D564G	LRRC8A_uc010myp.3_Missense_Mutation_p.D564G|LRRC8A_uc010myq.3_Missense_Mutation_p.D564G	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member A (LRRC8A), transcript variant 2, mRNA.	564					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						GTGGTCACAGATGTGGGCGTG	0.572													11	26					0	0	1	0	0	G	131671134	A	G	131671134	3	3	91	1	0	0	0	0	1	0	0	0	9021	333	12	3	1693	3	LRRC8A	9	131671134	Missense_Mutation	SNP	A	TCGA-DU-7019-01A-11D-2024-08		131671134	9542297	16	3997											
RPL7A	6130	broad.mit.edu	37	chr9	136216484	136216484	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caggttgcagcggcagagagCcatcctctataagcggctga	10	7	13	11	2	1	2	0	1	1	1	2	3	2	2	2	3	4	4	2	3	2	3			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr9:136216484C>G	uc004cde.1	+	2	233	c.203C>G	c.(202-204)gCc>gGc	p.A68G	MED22_uc004cdc.3_5'Flank|MED22_uc004cdd.3_5'Flank|SNORD36B_uc010nai.1_5'Flank|SNORD36A_uc010naj.3_5'Flank|RPL7A_uc022boy.1_5'Flank|SNORD36C_uc010nak.3_5'Flank	NM_000972	NP_000963	P62424	RL7A_HUMAN	Homo sapiens ribosomal protein L7a (RPL7A), mRNA.	68					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		CGGCAGAGAGCCATCCTCTAT	0.552													4	60					0	0	1	0	0	G	136216484	C	G	136216484	3	3	91	1	0	0	0	0	1	0	0	0	13600	739	26	5	213	5	RPL7A	9	136216484	Missense_Mutation	SNP	C	TCGA-DU-7019-01A-11D-2024-08	4545350	136216484	4996947	17	3998											
UBE4A	9354	broad.mit.edu	37	chr11	118239407	118239407	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagagagcctggatgaattCgattactctgtggctgagat	10	12	12	7	1	2	3	1	2	1	2	3	7	2	4	1	2	2	1	1	2	2	2			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr11:118239407C>T	uc001psw.3	+	2	318	c.183C>T	c.(181-183)ttC>ttT	p.F61F	UBE4A_uc001psv.3_Silent_p.F61F	NM_001204077	NP_001191006	Q14139	UBE4A_HUMAN	Homo sapiens ubiquitination factor E4A (UBE4A), transcript variant 2, mRNA.	61					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TGGATGAATTCGATTACTCTG	0.433													75	157					0	0	1	0	0	T	118239407	C	T	118239407	2	4	91	1	0	0	0	0	0	0	0	1	16879	883	31	2		2	UBE4A	11	118239407	Silent	SNP	C	TCGA-DU-7019-01A-11D-2024-08		118239407	16767109	18	3999											
MAP3K12	7786	broad.mit.edu	37	chr12	53876125	53876127	+	In_Frame_Del	DEL	TCC	TCC	-																															cttcactgtctacctctcctTcctcctcttccgatgagatg																										TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr12:53876125_53876127delTCC	uc001sdn.2	-	11	2536_2538	c.2265_2267delGGA	c.(2263-2268)gaggaa>gaa	p.755_756EE>E	MAP3K12_uc001sdm.2_In_Frame_Del_p.722_723EE>E	NM_001193511	NP_001180440	Q12852	M3K12_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 12 (MAP3K12), transcript variant 1, mRNA.	722					JNK cascade|histone phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TACCTCTCCTTCCTCCTCTTCCG	0.493													24	143	---	---	---	---						-	53876127	TCC	-	53876125	7	5	91	1	0	1	0	1	0	0	0	0	9246	1783	62	0	423	0	MAP3K12	12	53876125	In_Frame_Del	DEL	TCC	TCGA-DU-7019-01A-11D-2024-08		53876125	79975770	19	4000											
P2RX4	5025	broad.mit.edu	37	chr12	121670817	121670819	+	In_Frame_Del	DEL	CAT	CAT	-																															caggcgaccgtgctgtgtgaCatcatagtcctctactgcat																										TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr12:121670817_121670819delCAT	uc001tzr.3	+	10	1366_1368	c.1062_1064delCAT	c.(1060-1065)gacatc>gac	p.I356del	P2RX4_uc009zxc.3_In_Frame_Del_p.I329del|P2RX4_uc010szt.2_In_Frame_Del_p.I255del|P2RX4_uc009zxb.3_Non-coding_Transcript	NM_002560	NP_002551	Q99571	P2RX4_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 4 (P2RX4), mRNA.	356					endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGCTGTGTGACATCATAGTCCTC	0.498													18	347	---	---	---	---						-	121670819	CAT	-	121670817	7	5	91	1	0	1	0	1	0	0	0	0	11342	477	17	0	1104	0	P2RX4	12	121670817	In_Frame_Del	DEL	CAT	TCGA-DU-7019-01A-11D-2024-08	67794692	121670817	12181078	20	4001											
DNAH10	196385	broad.mit.edu	37	chr12	124335566	124335566	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtggtcgtgatcgtgccCgacctgcagcagatctgtga	6	10	13	12	3	1	3	0	2	1	1	3	4	1	3	3	1	3	2	3	1	0	0			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr12:124335566C>T	uc001uft.4	+	33	5905	c.5880C>T	c.(5878-5880)ccC>ccT	p.P1960P		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1960	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGATCGTGCCCGACCTGCAGC	0.632													17	42					0	0	1	0	0	T	124335566	C	T	124335566	2	4	91	1	0	0	0	0	0	0	0	1	4598	639	23	2		2	DNAH10	12	124335566	Silent	SNP	C	TCGA-DU-7019-01A-11D-2024-08	2664749	124335566	9516329	21	4002											
TBC1D4	9882	broad.mit.edu	37	chr13	76055900	76055900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgaatgcagctgggcggctCcataactctcgcctcaccag	8	8	10	15	2	2	1	1	1	1	0	4	1	3	1	3	2	3	3	3	2	2	1			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr13:76055900C>T	uc001vjl.1	-	0	351	c.4G>A	c.(4-6)Gag>Aag	p.E2K	TBC1D4_uc010aer.2_Missense_Mutation_p.E2K|TBC1D4_uc010aes.2_Missense_Mutation_p.E2K	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	2						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CTGGGCGGCTCCATAACTCTC	0.731													5	5					0	0	1	0	0	T	76055900	C	T	76055900	3	4	91	1	0	0	0	0	1	0	0	0	15619	864	30	3	3976	3	TBC1D4	13	76055900	Missense_Mutation	SNP	C	TCGA-DU-7019-01A-11D-2024-08		76055900	39113978	22	4003											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25251836	25251836	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaggcctctgatgcacaacGgctttccctaaatctctagg	11	10	8	12	1	2	1	0	1	2	0	4	1	3	1	2	3	2	2	2	3	5	3			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr16:25251836G>A	uc002dod.4	-	6	2612	c.2205C>T	c.(2203-2205)gcC>gcT	p.A735A	ZKSCAN2_uc010vcl.2_Silent_p.A531A	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	735					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GATGCACAACGGCTTTCCCTA	0.473													26	50					0	0	1	0	0	A	25251836	G	A	25251836	2	1	91	1	0	0	0	0	0	0	0	1	17684	1103	39	2		2	ZKSCAN2	16	25251836	Silent	SNP	G	TCGA-DU-7019-01A-11D-2024-08		25251836	65102917	23	4004											
OR3A2	4995	broad.mit.edu	37	chr17	3181606	3181606	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgatgaaacccacagcaaaGagcagcagctcattgagttg	15	7	10	9	0	1	4	1	3	0	1	1	4	1	4	1	0	5	5	1	0	2	2			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:3181606G>A	uc002fvg.3	-	0	663	c.624C>T	c.(622-624)ctC>ctT	p.L208L		NM_002551	NP_002542	P47893	OR3A2_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 2 (OR3A2), mRNA.	208					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						CCACAGCAAAGAGCAGCAGCT	0.537													38	59					0	0	1	0	0	A	3181606	G	A	3181606	2	1	91	1	0	0	0	0	0	0	0	1	11038	929	33	3		3	OR3A2	17	3181606	Silent	SNP	G	TCGA-DU-7019-01A-11D-2024-08		3181606	78013604	24	4005											
TRPV3	162514	broad.mit.edu	37	chr17	3458099	3458100	+	Frame_Shift_Del	DEL	CT	CT	-																															gttcccactgggggcagcaaCtctcttgcccatgagaggca																										TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:3458099_3458100delCT	uc002fvr.2	-	1	367_368	c.45_46delAG	c.(43-48)agagttfs	p.R15fs	TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Frame_Shift_Del_p.R15fs|TRPV3_uc010vrj.1_5'UTR|TRPV3_uc002fvu.3_Frame_Shift_Del_p.R15fs	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA.	15						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GGGGCAGCAACTCTCTTGCCCA	0.619													7	47	---	---	---	---						-	3458100	CT	-	3458099	7	5	91	1	0	1	0	1	0	0	0	0	16594	565	20	0	2394	0	TRPV3	17	3458099	Frame_Shift_Del	DEL	CT	TCGA-DU-7019-01A-11D-2024-08	276493	3458099	77737111	25	4006											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:7578406C>T	uc002gim.2	-	4	718	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.3_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.2_Missense_Mutation_p.R136H	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(1654)|p.R175L(38)|p.R43H(36)|p.R82H(36)|p.R175G(15)|p.R175C(15)|p.R175P(12)|p.R174W(10)|p.0?(8)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.R174fs*24(4)|p.R174fs*73(4)|p.R174K(4)|p.R174fs*1(4)|p.R175fs*5(3)|p.V157_C176del20(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R174_C176delRRC(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R174fs*70(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174M(2)|p.R174fs*3(2)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174G(1)|p.R81fs*24(1)|p.R174fs*7(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			53	19					0	0	1	0	0	T	7578406	C	T	7578406	3	4	91	1	0	0	0	0	1	0	0	0	16378	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-DU-7019-01A-11D-2024-08	4120307	7578406	73616804	26	4007											
WRAP53	55135	broad.mit.edu	37	chr17	7592042	7592042	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagctccagcccatcctTctccccacgcttccccgatg	6	8	5	22	2	1	0	0	0	1	0	5	1	4	0	8	0	2	2	8	0	0	2			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:7592042T>C	uc010vuh.2	+	1	231	c.76T>C	c.(76-78)Tct>Cct	p.S26P	WRAP53_uc010vui.2_Missense_Mutation_p.S26P|WRAP53_uc002gip.3_Missense_Mutation_p.S26P|WRAP53_uc002gir.3_Missense_Mutation_p.S26P|WRAP53_uc002giq.3_Non-coding_Transcript|WRAP53_uc010cnl.3_Missense_Mutation_p.S26P|TP53_uc010cni.1_5'Flank|TP53_uc010cnh.1_5'Flank|TP53_uc002gim.2_5'Flank|TP53_uc002gij.2_5'Flank|TP53_uc002gin.2_5'Flank|TP53_uc002gio.2_5'Flank|TP53_uc010vug.2_5'Flank|TP53_uc010cnk.1_5'Flank	NM_001143990	NP_060551	Q9BUR4	WAP53_HUMAN	Homo sapiens WD repeat containing, antisense to TP53 (WRAP53), transcript variant 2, mRNA.	26	Pro-rich.				positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	RNA binding|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						AGCCCATCCTTCTCCCCACGC	0.587													19	59					0	0	1	0	0	C	7592042	T	C	7592042	3	2	91	1	0	0	0	0	1	0	0	0	17397	1783	62	3	78	3	WRAP53	17	7592042	Missense_Mutation	SNP	T	TCGA-DU-7019-01A-11D-2024-08	13636	7592042	73603168	27	4008											
HAP1	9001	broad.mit.edu	37	chr17	39881249	39881249	+	Frame_Shift_Del	DEL	C	C	-																															ttccatcaccccttcctcagCcggcaccttcttggcagccc																										TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:39881249delC	uc002hxm.1	-	11	1732	c.1720delG	c.(1720-1722)gctfs	p.A574fs	JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Frame_Shift_Del_p.A522fs|HAP1_uc002hxo.1_Frame_Shift_Del_p.A505fs|HAP1_uc002hxp.1_Frame_Shift_Del_p.A497fs	NM_177977	NP_817084	P54257	HAP1_HUMAN	Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA.	574	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CCTTCCTCAGCCGGCACCTTC	0.627													84	328	---	---	---	---						-	39881249	C	-	39881249	7	5	91	1	0	1	0	1	0	0	0	0	6953	739	26	0	299	0	HAP1	17	39881249	Frame_Shift_Del	DEL	C	TCGA-DU-7019-01A-11D-2024-08	32289207	39881249	41313961	28	4009											
CACNA1G	8913	broad.mit.edu	37	chr17	48687284	48687284	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttccggcagctcagccAgcgctgcgtcaggtactgcg	5	9	13	14	4	2	0	2	0	0	0	3	0	3	0	2	2	7	5	2	2	1	3			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:48687284A>C	uc002irk.1	+	25	5119	c.4747A>C	c.(4747-4749)Agc>Cgc	p.S1583R	CACNA1G_uc002irj.1_Intron|CACNA1G_uc002irl.1_Missense_Mutation_p.S1560R|CACNA1G_uc002irm.1_Intron|CACNA1G_uc002irn.1_Intron|CACNA1G_uc002iro.1_Intron|CACNA1G_uc002irp.1_Missense_Mutation_p.S1583R|CACNA1G_uc002irq.1_Missense_Mutation_p.S1560R|CACNA1G_uc002irr.1_Missense_Mutation_p.S1583R|CACNA1G_uc002irs.1_Intron|CACNA1G_uc002irt.1_Intron|CACNA1G_uc002iru.1_Intron|CACNA1G_uc002irv.1_Intron|CACNA1G_uc002irw.1_Missense_Mutation_p.S1560R|CACNA1G_uc002irx.1_Missense_Mutation_p.S1496R|CACNA1G_uc002iry.1_Intron|CACNA1G_uc002isg.1_Intron|CACNA1G_uc002ish.1_Intron|CACNA1G_uc002isi.1_Missense_Mutation_p.S1439R|CACNA1G_uc002irz.1_Missense_Mutation_p.S1496R|CACNA1G_uc002isa.1_Missense_Mutation_p.S1462R|CACNA1G_uc002isd.1_Intron|CACNA1G_uc002isb.1_Missense_Mutation_p.S1503R|CACNA1G_uc002isc.1_Intron|CACNA1G_uc002ise.1_Intron|CACNA1G_uc002isf.1_Intron	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1583					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CAGCTCAGCCAGCGCTGCGTC	0.587													3	34					0	0	1	0	0	C	48687284	A	C	48687284	3	2	91	1	0	0	0	0	1	0	0	0	2544	188	7	5	5116	5	CACNA1G	17	48687284	Missense_Mutation	SNP	A	TCGA-DU-7019-01A-11D-2024-08	8806035	48687284	32507926	29	4010											
SUMO2	6613	broad.mit.edu	37	chr17	73177151	73177151	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtacacatatgaattcctcaCctgtcgttcacaataggctt	11	13	6	11	1	2	1	2	1	0	0	4	1	3	1	2	1	1	3	2	1	5	6			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:73177151C>G	uc002jne.3	-	2	322	c.153_splice	c.e2+1	p.Q51_splice	SUMO2_uc002jnf.3_Splice_Site_p.Q51_splice	NM_006937	NP_008868	P61956	SUMO2_HUMAN	Homo sapiens SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae) (SUMO2), transcript variant 1, mRNA.	51	Ubiquitin-like.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation	nucleus	ubiquitin protein ligase binding			NS(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					GAATTCCTCACCTGTCGTTCA	0.363													15	41					0	0	1	0	0	G	73177151	C	G	73177151	5	3	91	1	0	0	0	0	0	0	1	0	15385	521	18	5	145	5	SUMO2	17	73177151	Splice_Site	SNP	C	TCGA-DU-7019-01A-11D-2024-08	24489867	73177151	8018059	30	4011											
C19orf26	255057	broad.mit.edu	37	chr19	1231248	1231248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcactggctgcccgctgccGctggaagtggtgccgcttgg	3	9	15	14	3	1	0	1	0	0	0	1	1	1	1	3	4	3	4	3	4	1	1			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr19:1231248G>A	uc002lrm.2	-	8	1263	c.988C>T	c.(988-990)Cgg>Tgg	p.R330W		NM_152769	NP_689982	Q8N350	DOS_HUMAN	Homo sapiens chromosome 19 open reading frame 26 (C19orf26), mRNA.	356						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		GCCCGCTGCCGCTGGAAGTGG	0.667										HNSCC(14;0.022)			31	54					0	0	1	0	0	A	1231248	G	A	1231248	3	1	91	1	0	0	0	0	1	0	0	0	1916	1086	38	1	359	1	C19orf26	19	1231248	Missense_Mutation	SNP	G	TCGA-DU-7019-01A-11D-2024-08		1231248	57897735	31	4012											
SMARCA4	6597	broad.mit.edu	37	chr19	11106926	11106928	+	In_Frame_Del	DEL	AGA	AGA	-																															gtaccgcaagctcatcgaccAgaagaaggacaagcgcctgg																										TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr19:11106926_11106928delAGA	uc010dxp.3	+	10	1991_1993	c.1631_1633delAGA	c.(1630-1635)cagaag>cag	p.K546del	SMARCA4_uc010dxo.3_In_Frame_Del_p.K546del|SMARCA4_uc002mqf.4_In_Frame_Del_p.K546del|SMARCA4_uc002mqg.1_In_Frame_Del_p.K546del|SMARCA4_uc010dxq.3_In_Frame_Del_p.K546del|SMARCA4_uc010dxr.3_In_Frame_Del_p.K546del|SMARCA4_uc002mqj.4_In_Frame_Del_p.K546del|SMARCA4_uc010dxs.3_In_Frame_Del_p.K546del|SMARCA4_uc002mqe.2_In_Frame_Del_p.K546del	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	546					chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTCATCGACCAGAAGAAGGACAA	0.576			"F, N, Mis"		NSCLC								52	164	---	---	---	---						-	11106928	AGA	-	11106926	7	5	91	1	0	1	0	1	0	0	0	0	14770	188	7	0	1665	0	SMARCA4	19	11106926	In_Frame_Del	DEL	AGA	TCGA-DU-7019-01A-11D-2024-08	9875678	11106926	48022057	32	4013											
NWD1	284434	broad.mit.edu	37	chr19	16860740	16860740	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgtctcttgcagaaacttCgagtctctcgtgctcctgct	6	14	8	13	2	2	1	0	0	2	1	7	2	3	1	1	0	4	3	1	0	1	2			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr19:16860740C>T	uc002neu.4	+	5	1709	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	NWD1_uc002net.4_Silent_p.F294F|NWD1_uc002nev.4_Silent_p.F223F|NWD1_uc021uqg.1_Silent_p.F294F	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	429	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCAGAAACTTCGAGTCTCTCG	0.617													16	131					0	0	1	0	0	T	16860740	C	T	16860740	2	4	91	1	0	0	0	0	0	0	0	1	10781	883	31	2		2	NWD1	19	16860740	Silent	SNP	C	TCGA-DU-7019-01A-11D-2024-08	5753814	16860740	42268243	33	4014											
PVR	5817	broad.mit.edu	37	chr19	45153147	45153147	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagccagtgcccatggcccGctgcgtctccacagggggtc	6	6	14	15	2	1	1	0	0	1	1	3	1	1	1	4	3	3	1	4	3	0	0			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr19:45153147G>A	uc002ozm.3	+	2	793	c.494G>A	c.(493-495)cGc>cAc	p.R165H	PVR_uc010ejs.3_Missense_Mutation_p.R165H|PVR_uc010xxb.2_Missense_Mutation_p.R165H|PVR_uc010xxc.2_Missense_Mutation_p.R165H|PVR_uc002ozn.3_Missense_Mutation_p.R110H	NM_006505	NP_006496	P15151	PVR_HUMAN	Homo sapiens poliovirus receptor (PVR), transcript variant 1, mRNA.	165	Ig-like C2-type 1.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to T cell mediated cytotoxicity|susceptibility to natural killer cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		CCCATGGCCCGCTGCGTCTCC	0.612													20	137					0	0	1	0	0	A	45153147	G	A	45153147	3	1	91	1	0	0	0	0	1	0	0	0	12837	1087	38	1	504	1	PVR	19	45153147	Missense_Mutation	SNP	G	TCGA-DU-7019-01A-11D-2024-08	28292407	45153147	13975836	34	4015											
ZC3H4	23211	broad.mit.edu	37	chr19	47575123	47575123	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttctgggctggcgggataggGggcatcattccagaatgtgg	7	10	17	7	1	2	1	1	0	1	1	3	2	3	2	1	6	0	2	1	6	2	3			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr19:47575123G>A	uc002pga.4	-	12	2096	c.2058C>T	c.(2056-2058)ccC>ccT	p.P686P	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	686	Pro-rich.						nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GCGGGATAGGGGGCATCATTC	0.622													14	27					0	0	1	0	0	A	47575123	G	A	47575123	2	1	91	1	0	0	0	0	0	0	0	1	17567	1219	43	3		3	ZC3H4	19	47575123	Silent	SNP	G	TCGA-DU-7019-01A-11D-2024-08	2421976	47575123	11553860	35	4016											
LILRA1	11024	broad.mit.edu	37	chr19	55106273	55106273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacagcaccctggattacaCggatcccacaggagattgtg	13	7	10	11	1	0	1	0	0	0	1	1	4	1	3	2	3	3	1	2	3	2	2			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr19:55106273C>T	uc002qgh.1	+	3	396	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Missense_Mutation_p.R72W	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	72	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTGGATTACACGGATCCCACA	0.562													47	80					0	0	1	0	0	T	55106273	C	T	55106273	3	4	91	1	0	0	0	0	1	0	0	0	8784	527	19	1	224	1	LILRA1	19	55106273	Missense_Mutation	SNP	C	TCGA-DU-7019-01A-11D-2024-08	7531150	55106273	4022710	36	4017											
SLC24A3	57419	broad.mit.edu	37	chr20	19677486	19677486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggattcctgacgtcatcatgGggatcaccttcctggctgct	6	12	11	12	1	3	1	3	1	0	0	5	3	5	3	3	4	1	2	3	4	0	2			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr20:19677486G>A	uc002wrl.3	+	13	1734	c.1537G>A	c.(1537-1539)Ggg>Agg	p.G513R		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	513						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CGTCATCATGGGGATCACCTT	0.592													14	28					0	0	1	0	0	A	19677486	G	A	19677486	3	1	91	1	0	0	0	0	1	0	0	0	14467	1232	43	3	1591	3	SLC24A3	20	19677486	Missense_Mutation	SNP	G	TCGA-DU-7019-01A-11D-2024-08		19677486	43348034	37	4018											
KCNG1	3755	broad.mit.edu	37	chr20	49626525	49626527	+	In_Frame_Del	DEL	GAA	GAA	-																															aaggcccccgggttgcggtcGaagaagaactcgttgcaggt																										TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr20:49626525_49626527delGAA	uc002xwa.4	-	1	644_646	c.349_351delTTC	c.(349-351)ttcdel	p.F117del	KCNG1_uc002xwb.3_In_Frame_Del_p.F117del	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	117						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGTTGCGGTCGAAGAAGAACTCG	0.645													13	50	---	---	---	---						-	49626527	GAA	-	49626525	7	5	91	1	0	1	0	1	0	0	0	0	8027	1049	37	0	1198	0	KCNG1	20	49626525	In_Frame_Del	DEL	GAA	TCGA-DU-7019-01A-11D-2024-08	29949039	49626525	13398995	38	4019											
KRTAP19-2	337969	broad.mit.edu	37	chr21	31859568	31859568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcagcagcagccatctcCacagcctctgtggccacaac	9	6	10	16	0	2	0	0	0	2	0	3	0	2	0	4	2	5	3	4	2	1	0			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr21:31859568C>T	uc011acy.2	-	0	100	c.100G>A	c.(100-102)Gga>Aga	p.G34R		NM_181608	NP_853639	Q3LHN2	KR192_HUMAN	Homo sapiens keratin associated protein 19-2 (KRTAP19-2), mRNA.	34						intermediate filament				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CAGCCATCTCCACAGCCTCTG	0.512													8	146					0	0	1	0	0	T	31859568	C	T	31859568	3	4	91	1	0	0	0	0	1	0	0	0	8529	603	21	3	60	3	KRTAP19-2	21	31859568	Missense_Mutation	SNP	C	TCGA-DU-7019-01A-11D-2024-08		31859568	16270327	39	4020											
KCNJ15	3772	broad.mit.edu	37	chr21	39671533	39671533	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggactctctcactggggCgtttctcttttccctggaat	5	15	10	11	1	3	0	1	0	2	0	6	2	4	2	1	4	0	1	1	4	1	3			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr21:39671533C>T	uc021wjc.1	+	0	350	c.350C>T	c.(349-351)gCg>gTg	p.A117V	KCNJ15_uc002ywv.3_Missense_Mutation_p.A117V|KCNJ15_uc002yww.3_Missense_Mutation_p.A117V|KCNJ15_uc002ywx.3_Missense_Mutation_p.A117V	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	117					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						CTCACTGGGGCGTTTCTCTTT	0.493													10	107					0	0	1	0	0	T	39671533	C	T	39671533	3	4	91	1	0	0	0	0	1	0	0	0	8049	768	27	1	352	1	KCNJ15	21	39671533	Missense_Mutation	SNP	C	TCGA-DU-7019-01A-11D-2024-08	7811965	39671533	8458362	40	4021											
SMARCB1	6598	broad.mit.edu	37	chr22	24175836	24175837	+	Frame_Shift_Del	DEL	CT	CT	-																															gtggtgcccactgctggagaCtctgacagacgctgagatgg																										TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr22:24175836_24175837delCT	uc002zyd.3	+	7	1298_1299	c.1091_1092delCT	c.(1090-1092)actfs	p.T364fs	SMARCB1_uc002zya.3_Intron|SMARCB1_uc002zyb.3_Frame_Shift_Del_p.T355fs|SMARCB1_uc002zyc.3_Frame_Shift_Del_p.T346fs	NM_001007468	NP_001007469	Q12824	SNF5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1), transcript variant 2, mRNA.	355					DNA integration|cell cycle|chromatin remodeling|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleolus|nucleoplasm	p53 binding	p.?(2)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CTGCTGGAGACTCTGACAGACG	0.634			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid							11	123	---	---	---	---						-	24175837	CT	-	24175836	7	5	91	1	0	1	0	1	0	0	0	0	14774	565	20	0	1094	0	SMARCB1	22	24175836	Frame_Shift_Del	DEL	CT	TCGA-DU-7019-01A-11D-2024-08		24175836	27128730	41	4022											
RASL10A	10633	broad.mit.edu	37	chr22	29709887	29709887	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctgccgcagggccttcacGtagtcgaaactgtccgggct	6	8	13	14	5	1	0	1	0	0	0	3	1	2	0	3	2	2	4	3	2	2	2			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr22:29709887G>A	uc003aff.3	-	1	822	c.309C>T	c.(307-309)taC>taT	p.Y103Y	RASL10A_uc003afg.3_Silent_p.Y103Y	NM_006477	NP_006468	Q92737	RSLAA_HUMAN	Homo sapiens RAS-like, family 10, member A (RASL10A), transcript variant 1, mRNA.	103	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)	1						GGGCCTTCACGTAGTCGAAAC	0.652													4	34					0	0	1	0	0	A	29709887	G	A	29709887	2	1	91	1	0	0	0	0	0	0	0	1	13079	1140	40	1		1	RASL10A	22	29709887	Silent	SNP	G	TCGA-DU-7019-01A-11D-2024-08	5534051	29709887	21594679	42	4023											
TST	7263	broad.mit.edu	37	chr22	37407129	37407129	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggggcccggcgaaaccacTcggaccaggagccatcgtac	9	3	15	14	4	0	0	0	0	0	0	2	3	0	2	4	6	3	1	4	6	2	1			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr22:37407129T>G	uc003aqg.3	-	1	1528	c.833A>C	c.(832-834)gAg>gCg	p.E278A	TST_uc003aqh.3_Missense_Mutation_p.E278A	NM_003312	NP_003303	Q16762	THTR_HUMAN	Homo sapiens thiosulfate sulfurtransferase (rhodanese) (TST), nuclear gene encoding mitochondrial protein, mRNA.	278	Rhodanese 2.				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						GCGAAACCACTCGGACCAGGA	0.637													4	75					0	0	1	0	0	G	37407129	T	G	37407129	3	3	91	1	0	0	0	0	1	0	0	0	16670	1551	54	5	64	5	TST	22	37407129	Missense_Mutation	SNP	T	TCGA-DU-7019-01A-11D-2024-08	7697242	37407129	13897437	43	4024											
EIF3L	51386	broad.mit.edu	37	chr22	38270462	38270462	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcctggtcgggcttctccgCctgcactccctgttaggaga	5	10	12	14	2	1	1	0	0	1	1	4	2	2	1	4	3	2	3	4	3	1	2			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr22:38270462C>T	uc003auf.3	+	8	915	c.837C>T	c.(835-837)cgC>cgT	p.R279R	EIF3L_uc011ann.2_Silent_p.R231R|EIF3L_uc003aug.3_Silent_p.R171R	NM_016091	NP_057175	Q9Y262	EIF3L_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit L (EIF3L), transcript variant 1, mRNA.	279						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	p.R279H(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGCTTCTCCGCCTGCACTCCC	0.552													34	37					0	0	1	0	0	T	38270462	C	T	38270462	2	4	91	1	0	0	0	0	0	0	0	1	5022	726	26	3		3	EIF3L	22	38270462	Silent	SNP	C	TCGA-DU-7019-01A-11D-2024-08	863333	38270462	13034104	44	4025											
MXRA5	25878	broad.mit.edu	37	chrX	3239837	3239837	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatatttttctggtggttgTcatgtaatctaaggaatcat	11	18	8	4	0	4	0	2	0	2	0	4	1	4	1	0	3	0	2	0	3	5	7			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chrX:3239837T>C	uc004crg.4	-	4	4046	c.3889A>G	c.(3889-3891)Aca>Gca	p.T1297A		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1297						extracellular region		p.M1296L(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGGTGGTTGTCATGTAATCT	0.358													4	66					0	0	1	0	0	C	3239837	T	C	3239837	3	2	91	1	0	0	0	0	1	0	0	0	10003	1667	58	3	4609	3	MXRA5	23	3239837	Missense_Mutation	SNP	T	TCGA-DU-7019-01A-11D-2024-08		3239837	152030723	45	4026											
CNKSR2	22866	broad.mit.edu	37	chrX	21534627	21534627	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtggcagttgaaaaatttgGtgaatgcactacgagaggac	13	9	14	5	1	0	3	0	2	0	1	0	5	0	4	0	4	2	3	0	4	4	3			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chrX:21534627G>T	uc004czx.2	+	8	1315	c.835G>T	c.(835-837)Gtg>Ttg	p.V279L	CNKSR2_uc004czw.3_Missense_Mutation_p.V279L|CNKSR2_uc011mjn.2_Intron|CNKSR2_uc011mjo.2_Missense_Mutation_p.V279L	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	279	PDZ.				regulation of signal transduction	cytoplasm|membrane	protein binding	p.V279V(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GAAAAATTTGGTGAATGCACT	0.398													23	9					5.35356e-11	5.58137e-11	1	1	0	T	21534627	G	T	21534627	3	4	91	1	0	0	0	0	1	0	0	0	3607	1261	44	5	869	5	CNKSR2	23	21534627	Missense_Mutation	SNP	G	TCGA-DU-7019-01A-11D-2024-08	18294790	21534627	133735933	46	4027											
SGIP1	84251	broad.mit.edu	37	chr1	67142747	67142747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aattaatccaagcatggagtCgccaaagttaacaaggcctt	15	9	8	9	1	0	0	0	0	0	0	2	1	1	1	3	2	2	2	3	2	6	3			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr1:67142747C>T	uc001dcr.3	+	12	924	c.707C>T	c.(706-708)tCg>tTg	p.S236L	SGIP1_uc010opd.2_Missense_Mutation_p.S3L|SGIP1_uc001dcs.3_Missense_Mutation_p.S3L|SGIP1_uc001dct.3_Missense_Mutation_p.S3L|AK298300_uc010ope.1_5'Flank|SGIP1_uc009wat.3_Missense_Mutation_p.S3L	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	236	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	SH3 domain binding|microtubule binding|phospholipid binding	p.E235*(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AGCATGGAGTCGCCAAAGTTA	0.403													28	79					0	0	0.706142	0	0	T	67142747	C	T	67142747	3	4	92	1	0	0	0	0	1	0	0	0	14206	893	31	2	757	2	SGIP1	1	67142747	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08		67142747	182107874	1	4028											
TMEM206	55248	broad.mit.edu	37	chr1	212553255	212553255	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctttgcaggaactcctggAaagaagagaagaggaggtaa	16	6	13	6	0	0	3	0	0	0	3	1	7	1	6	2	4	2	2	2	4	5	2			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr1:212553255A>G	uc010pte.2	-	5	971	c.803T>C	c.(802-804)tTc>tCc	p.F268S	TMEM206_uc001hjc.4_Missense_Mutation_p.F207S	NM_001198862	NP_001185791	Q9H813	TM206_HUMAN	Homo sapiens transmembrane protein 206 (TMEM206), transcript variant 1, mRNA.	207						integral to membrane				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		GAACTCCTGGAAAGAAGAGAA	0.498													28	84					0	0	0.779181	0	0	G	212553255	A	G	212553255	3	3	92	1	0	0	0	0	1	0	0	0	16128	246	9	3	448	3	TMEM206	1	212553255	Missense_Mutation	SNP	A	TCGA-DU-7290-01A-11D-2024-08	145410508	212553255	36697366	2	4029											
SFXN5	94097	broad.mit.edu	37	chr2	73227600	73227600	+	Frame_Shift_Del	DEL	T	T	-																															catagttgacacaggcattgTggctctggttcagccactga																										TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr2:73227600delT	uc002siq.3	-	7	559	c.428delA	c.(427-429)cacfs	p.H143fs	SFXN5_uc002sip.3_Intron|SFXN5_uc002sio.3_Frame_Shift_Del_p.H35fs|SFXN5_uc010yrc.2_5'UTR|SFXN5_uc010fet.3_Frame_Shift_Del_p.H143fs	NM_144579	NP_653180	Q8TD22	SFXN5_HUMAN	Homo sapiens sideroflexin 5 (SFXN5), nuclear gene encoding mitochondrial protein, mRNA.	143					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						ACAGGCATTGTGGCTCTGGTT	0.587													2	4	---	---	---	---						-	73227600	T	-	73227600	7	5	92	1	0	1	0	1	0	0	0	0	14198	1696	59	0	622	0	SFXN5	2	73227600	Frame_Shift_Del	DEL	T	TCGA-DU-7290-01A-11D-2024-08		73227600	169971773	3	4030											
TTN	7273	broad.mit.edu	37	chr2	179637874	179637874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatgtcatattttctcccGcgtaaaatgtgtattttcct	9	17	6	9	2	2	1	1	0	1	1	4	1	3	1	2	0	0	2	2	0	4	7			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr2:179637874G>A	uc021vsy.1	-	32	8042	c.7817C>T	c.(7816-7818)gCg>gTg	p.A2606V	TTN_uc021vsz.1_Missense_Mutation_p.A2560V|TTN_uc021vta.1_Missense_Mutation_p.A2560V|TTN_uc021vtb.1_Missense_Mutation_p.A2560V|TTN_uc002unb.2_Missense_Mutation_p.A2606V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2606							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTTCTCCCGCGTAAAATGT	0.289													13	36					0	0	0.457914	0	0	A	179637874	G	A	179637874	3	1	92	1	0	0	0	0	1	0	0	0	16732	1087	38	1	103491	1	TTN	2	179637874	Missense_Mutation	SNP	G	TCGA-DU-7290-01A-11D-2024-08	106410274	179637874	63561499	4	4031											
CELSR3	1951	broad.mit.edu	37	chr3	48698353	48698353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atccgttggcgtccttgtccCggtcagtggccgtgacgcgc	3	10	14	14	6	1	1	1	1	0	0	4	1	4	1	4	3	0	1	4	3	0	2			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr3:48698353C>T	uc003cuf.1	-	2	1925	c.1925G>A	c.(1924-1926)cGg>cAg	p.R642Q	CELSR3_uc003cul.3_Missense_Mutation_p.R572Q	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	572	Cadherin 3.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTCCTTGTCCCGGTCAGTGGC	0.607													8	28					0	0	0.307466	0	0	T	48698353	C	T	48698353	3	4	92	1	0	0	0	0	1	0	0	0	3223	652	23	2	8363	2	CELSR3	3	48698353	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08		48698353	149324077	5	4032											
OTOP1	133060	broad.mit.edu	37	chr4	4214703	4214703	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaaggcatcccaggatgacGgtaatgactgcaaacaatgt	14	9	10	8	1	0	2	0	2	0	0	1	3	1	3	1	3	2	3	1	3	4	2			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr4:4214703G>A	uc003ghp.1	-	1	462	c.432C>T	c.(430-432)acC>acT	p.T144T		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	144					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCAGGATGACGGTAATGACTG	0.388													16	33					0	0	0.520397	0	0	A	4214703	G	A	4214703	2	1	92	1	0	0	0	0	0	0	0	1	11305	1103	39	2		2	OTOP1	4	4214703	Silent	SNP	G	TCGA-DU-7290-01A-11D-2024-08		4214703	186939573	6	4033											
FBXL7	23194	broad.mit.edu	37	chr5	15936897	15936897	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtacctgagcatcgcgcacTgcggccgggtcaccgacgtg	6	6	15	14	6	1	1	1	1	0	0	2	2	1	1	3	3	3	3	3	3	1	1			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr5:15936897T>A	uc003jfn.1	+	3	1559	c.1078T>A	c.(1078-1080)Tgc>Agc	p.C360S		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 7 (FBXL7), mRNA.	360					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CATCGCGCACTGCGGCCGGGT	0.677													4	9					0	0	0.150653	0	0	A	15936897	T	A	15936897	3	1	92	1	0	0	0	0	1	0	0	0	5724	1580	55	5	1092	5	FBXL7	5	15936897	Missense_Mutation	SNP	T	TCGA-DU-7290-01A-11D-2024-08		15936897	164978363	7	4034											
DMXL1	1657	broad.mit.edu	37	chr5	118485663	118485663	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcacaatcagtgctagtggaAgcactaccagagacccccag	13	6	9	13	0	2	1	2	0	0	1	2	3	2	2	3	1	3	2	3	1	4	2			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr5:118485663A>T	uc010jcl.1	+	17	4322	c.4141A>T	c.(4141-4143)Agc>Tgc	p.S1381C	DMXL1_uc003ksd.2_Missense_Mutation_p.S1381C|DMXL1_uc021ycw.1_Missense_Mutation_p.S1208C	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	1381								p.S1381N(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TGCTAGTGGAAGCACTACCAG	0.453													17	43					0	0	0.520397	0	0	T	118485663	A	T	118485663	3	4	92	1	0	0	0	0	1	0	0	0	4594	72	3	5	4211	5	DMXL1	5	118485663	Missense_Mutation	SNP	A	TCGA-DU-7290-01A-11D-2024-08	102548766	118485663	62429597	8	4035											
FBN2	2201	broad.mit.edu	37	chr5	127800434	127800434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccttggcaagctccagtgCggatgttggggatgaaaccc	9	8	13	11	1	0	1	0	1	0	0	1	3	1	3	3	4	3	3	3	4	2	2	rs148971572	byFrequency	TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr5:127800434C>T	uc003kuu.3	-	5	1248	c.809G>A	c.(808-810)cGc>cAc	p.R270H	FBN2_uc003kuv.2_Missense_Mutation_p.R237H|FBN2_uc003kuw.4_Missense_Mutation_p.R270H	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	270					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGCTCCAGTGCGGATGTTGGG	0.592													32	59					0	0	0.769981	0	0	T	127800434	C	T	127800434	3	4	92	1	0	0	0	0	1	0	0	0	5703	768	27	1	8169	1	FBN2	5	127800434	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08	9314771	127800434	53114826	9	4036											
HIST1H2AC	8334	broad.mit.edu	37	chr6	26124693	26124693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcgacaacaagaagactcGcatcatcccgcgccacttgc	11	6	8	16	5	1	2	1	0	0	2	4	3	2	2	2	0	2	1	2	0	3	1			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr6:26124693G>A	uc003ngm.3	+	0	321	c.233G>A	c.(232-234)cGc>cAc	p.R78H	HIST1H2BC_uc003ngk.4_5'Flank|HIST1H2BC_uc003ngl.3_5'Flank|HIST1H2AC_uc003ngo.3_Non-coding_Transcript	NM_003512	NP_003503	Q93077	H2A1C_HUMAN	Homo sapiens histone cluster 1, H2ac (HIST1H2AC), mRNA.	78					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						AAGAAGACTCGCATCATCCCG	0.652													42	74					0	0	0.870114	0	0	A	26124693	G	A	26124693	3	1	92	1	0	0	0	0	1	0	0	0	7130	1087	38	1	235	1	HIST1H2AC	6	26124693	Missense_Mutation	SNP	G	TCGA-DU-7290-01A-11D-2024-08		26124693	144990374	10	4037											
OR2B3	442184	broad.mit.edu	37	chr6	29054524	29054524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttcctggtgaccacagcGtggcatgttaagagtcaagg	10	9	12	10	1	1	2	1	1	0	1	2	2	2	2	2	3	1	2	2	3	2	2			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr6:29054524G>A	uc003nlx.3	-	0	567	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C		NM_001005226	NP_001005226			Homo sapiens olfactory receptor, family 2, subfamily B, member 3 (OR2B3), mRNA.											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						TGACCACAGCGTGGCATGTTA	0.488													15	32					0	0	0.457914	0	0	A	29054524	G	A	29054524	3	1	92	1	0	0	0	0	1	0	0	0	10990	1145	40	1	443	1	OR2B3	6	29054524	Missense_Mutation	SNP	G	TCGA-DU-7290-01A-11D-2024-08	2929831	29054524	142060543	11	4038											
NOTCH4	4855	broad.mit.edu	37	chr6	32180628	32180628	+	Frame_Shift_Del	DEL	G	G	-																															ctgcctccggtgtagccagtGgggcagaggcagcggggacc																										TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr6:32180628delG	uc003obb.3	-	15	2638	c.2499delC	c.(2497-2499)cccfs	p.P833fs	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	833	EGF-like 21.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TGTAGCCAGTGGGGCAGAGGC	0.622													2	4	---	---	---	---						-	32180628	G	-	32180628	7	5	92	1	0	1	0	1	0	0	0	0	10551	1335	47	0	3572	0	NOTCH4	6	32180628	Frame_Shift_Del	DEL	G	TCGA-DU-7290-01A-11D-2024-08	3126104	32180628	138934439	12	4039											
SYNE1	23345	broad.mit.edu	37	chr6	152783987	152783987	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaacaacacagtctgtgtaTtccttcttcattctgtccat	9	16	5	11	0	4	0	1	0	3	0	6	0	6	0	2	0	2	2	2	0	3	6			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr6:152783987T>C	uc021zhb.1	-	17	2359	c.2136A>G	c.(2134-2136)gaA>gaG	p.E712E	SYNE1_uc003qot.4_Silent_p.E719E|SYNE1_uc003qou.4_Silent_p.E712E|SYNE1_uc010kjb.1_Silent_p.E695E|SYNE1_uc003qpa.1_Silent_p.E712E|SYNE1_uc003qow.3_Silent_p.E7E|SYNE1_uc003qox.1_Silent_p.E228E|SYNE1_uc003qoz.2_Silent_p.E144E|SYNE1_uc003qoy.2_Silent_p.E279E	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	712					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		AGTCTGTGTATTCCTTCTTCA	0.433										HNSCC(10;0.0054)			14	60					0	0	0.479597	0	0	C	152783987	T	C	152783987	2	2	92	1	0	0	0	0	0	0	0	1	15442	1490	52	3		3	SYNE1	6	152783987	Silent	SNP	T	TCGA-DU-7290-01A-11D-2024-08	120603359	152783987	18331080	13	4040											
ARID1B	57492	broad.mit.edu	37	chr6	157454205	157454205	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccctcagatggctcagtaTggacctcaacagacaggacc	13	6	9	13	0	3	2	3	0	0	2	3	4	3	4	3	3	2	2	3	3	3	1			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr6:157454205T>A	uc003qqp.3	+	6	2376	c.2376T>A	c.(2374-2376)taT>taA	p.Y792*	ARID1B_uc003qqo.3_Nonsense_Mutation_p.Y805*|ARID1B_uc003qqn.3_Nonsense_Mutation_p.Y792*|ARID1B_uc003qqq.1_Nonsense_Mutation_p.Y176*	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	792					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TGGCTCAGTATGGACCTCAAC	0.463													25	36					0	0	0.706142	0	0	A	157454205	T	A	157454205	4	1	92	1	0	0	0	0	0	1	0	0	914	1471	51	5	2445	5	ARID1B	6	157454205	Nonsense_Mutation	SNP	T	TCGA-DU-7290-01A-11D-2024-08	4670218	157454205	13660862	14	4041											
COBL	23242	broad.mit.edu	37	chr7	51287614	51287614	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcagcctttccaggaggTgggggagcacgagccttcat	7	8	16	10	1	1	0	1	0	0	0	2	3	2	2	3	5	3	2	3	5	0	2	rs145775268	by1000genomes	TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr7:51287614T>G	uc003tps.3	-	1	254	c.69A>C	c.(67-69)ccA>ccC	p.P23P	COBL_uc003tpr.4_Silent_p.P23P|COBL_uc011kcl.2_Silent_p.P23P|COBL_uc010kzc.3_Silent_p.P23P|COBL_uc003tpt.3_Silent_p.P23P	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	23	Poly-Pro.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTCCAGGAGGTGGGGGAGCAC	0.552													6	36					0	0	0.307466	0	0	G	51287614	T	G	51287614	2	3	92	1	0	0	0	0	0	0	0	1	3653	1683	59	5		5	COBL	7	51287614	Silent	SNP	T	TCGA-DU-7290-01A-11D-2024-08		51287614	107851049	15	4042											
PTPRZ1	5803	broad.mit.edu	37	chr7	121684517	121684517	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatacactggttgaggccatActtagtaaagaaactgaggt	14	10	11	6	0	0	3	0	2	0	1	0	4	0	3	1	3	3	2	1	3	6	5			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr7:121684517A>G	uc003vjy.3	+	22	6374	c.5979A>G	c.(5977-5979)atA>atG	p.I1993M	PTPRZ1_uc011knt.2_Missense_Mutation_p.I1133M|PTPRZ1_uc003vjz.3_Missense_Mutation_p.I1126M	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	1993					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTGAGGCCATACTTAGTAAAG	0.393													32	87					0	0	0.788014	0	0	G	121684517	A	G	121684517	3	3	92	1	0	0	0	0	1	0	0	0	12814	381	14	3	6069	3	PTPRZ1	7	121684517	Missense_Mutation	SNP	A	TCGA-DU-7290-01A-11D-2024-08	70396903	121684517	37454146	16	4043											
GDF6	392255	broad.mit.edu	37	chr8	97157718	97157718	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggacacatcaaacaaataCttctgtctccggagaggagt	14	9	9	9	1	3	1	1	0	2	1	4	4	3	3	1	3	2	0	1	3	3	2			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr8:97157718C>G	uc003yhp.3	-	1	541	c.441G>C	c.(439-441)aaG>aaC	p.K147N		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	Homo sapiens growth differentiation factor 6 (GDF6), mRNA.	147					BMP signaling pathway|activin receptor signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					CAAACAAATACTTCTGTCTCC	0.562													13	29					0	0	0.479597	0	0	G	97157718	C	G	97157718	3	3	92	1	0	0	0	0	1	0	0	0	6317	564	20	5	930	5	GDF6	8	97157718	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08		97157718	49206304	17	4044											
GLIS3	169792	broad.mit.edu	37	chr9	4118007	4118007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgatgccgtccatctcccCgtcgtcgtccagggtggcct	3	9	11	18	5	1	0	0	0	1	0	6	1	3	0	7	2	1	0	7	2	0	0			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr9:4118007C>T	uc003zhx.1	-	3	2184	c.1471G>A	c.(1471-1473)Ggg>Agg	p.G491R	GLIS3_uc003zic.1_Missense_Mutation_p.G491R|GLIS3_uc003zie.1_Missense_Mutation_p.G491R|GLIS3_uc010mhh.1_Missense_Mutation_p.G366R|GLIS3_uc003zid.1_Missense_Mutation_p.G269R|GLIS3_uc010mhi.1_Missense_Mutation_p.G298R|GLIS3_uc003zif.1_Missense_Mutation_p.G269R|GLIS3_uc003zih.1_Missense_Mutation_p.G269R|GLIS3_uc003zig.1_Missense_Mutation_p.G335R|GLIS3_uc003zhw.1_Missense_Mutation_p.G336R|GLIS3_uc003zhy.1_Missense_Mutation_p.G269R|GLIS3_uc003zhz.1_Missense_Mutation_p.G269R|GLIS3_uc003zib.1_Missense_Mutation_p.G335R|GLIS3_uc010mhg.1_Missense_Mutation_p.G269R	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	336					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TCCATCTCCCCGTCGTCGTCC	0.692													6	58					0	0	0.217242	0	0	T	4118007	C	T	4118007	3	4	92	1	0	0	0	0	1	0	0	0	6447	652	23	2	1353	2	GLIS3	9	4118007	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08		4118007	137095424	18	4045											
PGM5	5239	broad.mit.edu	37	chr9	71098810	71098810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggggttggatcccaagaCgacatattatatcatgaggg	12	10	13	6	1	1	3	1	2	0	1	2	5	2	4	1	4	0	1	1	4	4	4			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr9:71098810C>T	uc004agr.3	+	8	1554	c.1325C>T	c.(1324-1326)aCg>aTg	p.T442M		NM_021965	NP_068800	Q15124	PGM5_HUMAN	Homo sapiens phosphoglucomutase 5 (PGM5), mRNA.	442					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	Z disc|costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GATCCCAAGACGACATATTAT	0.512													10	44					0	0	0.361761	0	0	T	71098810	C	T	71098810	3	4	92	1	0	0	0	0	1	0	0	0	11801	536	19	1	1359	1	PGM5	9	71098810	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08	66980803	71098810	70114621	19	4046											
OR1L8	138881	broad.mit.edu	37	chr9	125330525	125330525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcagcatcttggggacaaCgcttgttgtaaagcaaatat	13	11	9	8	1	2	0	1	0	1	0	2	1	2	1	0	2	3	5	0	2	5	5			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr9:125330525C>T	uc004bmp.1	-	0	232	c.232G>A	c.(232-234)Gtt>Att	p.V78I		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 8 (OR1L8), mRNA.	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TTGGGGACAACGCTTGTTGTA	0.453													23	44					0	0	0.624587	0	0	T	125330525	C	T	125330525	3	4	92	1	0	0	0	0	1	0	0	0	10967	536	19	1	701	1	OR1L8	9	125330525	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08	54231715	125330525	15882906	20	4047											
RET	5979	broad.mit.edu	37	chr10	43597996	43597996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcattcgggagaaccgacccCcaggcaccttccaccagttc	9	6	9	17	2	0	1	0	0	0	1	3	3	1	1	6	2	1	3	6	2	1	3			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr10:43597996C>T	uc001jal.3	+	2	734	c.544C>T	c.(544-546)Cca>Tca	p.P182S	RET_uc001jak.1_Missense_Mutation_p.P182S|RET_uc010qez.1_5'Flank	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	182	Cadherin.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GAACCGACCCCCAGGCACCTT	0.627		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				23	18					0	0	0.624587	0	0	T	43597996	C	T	43597996	3	4	92	1	0	0	0	0	1	0	0	0	13235	623	22	3	554	3	RET	10	43597996	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08		43597996	91936751	21	4048											
PTEN	5728	broad.mit.edu	37	chr10	89692830	89692830	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacttatcaaacccttttGtgaagatcttgaccaatggc	13	12	7	9	0	2	4	1	2	1	2	2	4	2	4	2	1	2	0	2	1	5	4			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr10:89692830G>A	uc001kfb.3	+	4	1346	c.314G>A	c.(313-315)tGt>tAt	p.C105Y	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	105	Phosphatase tensin-type.		C -> F (in BZS; loss of phosphatase activity towards Ins(1,3,4,5)P4).|C -> Y (in BZS).		T cell receptor signaling pathway|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 G1/S transition of mitotic cell cycle|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 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	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion 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.0?(37)|p.C105F(12)|p.C105S(6)|p.?(5)|p.R55fs*1(5)|p.C105Y(4)|p.C105W(4)|p.C105fs*2(2)|p.Y27fs*1(2)|p.C105fs*1(2)|p.Y27_N212>Y(2)|p.C105G(1)|p.C105R(1)|p.F56fs*2(1)|p.P103fs*3(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)		AAACCCTTTTGTGAAGATCTT	0.373		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)			48	45					0	0	0.870114	0	0	A	89692830	G	A	89692830	3	1	92	1	0	0	0	0	1	0	0	0	12738	1377	48	3	332	3	PTEN	10	89692830	Missense_Mutation	SNP	G	TCGA-DU-7290-01A-11D-2024-08	46094834	89692830	45841917	22	4049											
EFEMP2	30008	broad.mit.edu	37	chr11	65635447	65635447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcgggcacgctccgctccGaggtgatggtcatgtagcgg	6	7	16	12	5	1	1	1	1	0	0	3	2	3	1	2	4	2	4	2	4	1	1	rs142826827		TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr11:65635447G>A	uc001ofy.4	-	9	1314	c.1055C>T	c.(1054-1056)tCg>tTg	p.S352L	EFEMP2_uc001ofz.3_Non-coding_Transcript	NM_016938	NP_058634	O95967	FBLN4_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 2 (EFEMP2), transcript variant 1, mRNA.	352					blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GCTCCGCTCCGAGGTGATGGT	0.627													7	97					0	0	0.27861	0	0	A	65635447	G	A	65635447	3	1	92	1	0	0	0	0	1	0	0	0	4942	1059	37	2	284	2	EFEMP2	11	65635447	Missense_Mutation	SNP	G	TCGA-DU-7290-01A-11D-2024-08		65635447	69371069	23	4050											
AMICA1	120425	broad.mit.edu	37	chr11	118074285	118074285	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgtcattgcggaaaatgtcCcccaccaggttcacacgatt	10	9	8	14	3	2	0	2	0	0	0	3	2	3	1	4	2	1	1	4	2	2	3			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr11:118074285C>G	uc001psk.2	-	5	804	c.630G>C	c.(628-630)ggG>ggC	p.G210G	AMICA1_uc001psg.2_Silent_p.G20G|AMICA1_uc001psh.2_Silent_p.G171G|AMICA1_uc009yzw.1_Non-coding_Transcript|AMICA1_uc001psi.2_Silent_p.G200G|AMICA1_uc010rxw.1_Silent_p.G171G|AMICA1_uc010rxx.1_Silent_p.G210G|AMICA1_uc001psl.1_Silent_p.G166G	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	Homo sapiens adhesion molecule, interacts with CXADR antigen 1 (AMICA1), transcript variant 1, mRNA.	210	Ig-like V-type 2.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GGAAAATGTCCCCCACCAGGT	0.507													20	123					0	0	0.592651	0	0	G	118074285	C	G	118074285	2	3	92	1	0	0	0	0	0	0	0	1	574	610	22	5		5	AMICA1	11	118074285	Silent	SNP	C	TCGA-DU-7290-01A-11D-2024-08	52438838	118074285	16932231	24	4051											
STAB2	55576	broad.mit.edu	37	chr12	103984727	103984727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aattaggaccgagtgccgatCctgcgctctcaaccttggag	9	9	11	12	3	1	0	1	0	1	0	3	4	2	2	4	2	3	1	4	2	3	2			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr12:103984727C>T	uc001tjw.3	+	1	320	c.134C>T	c.(133-135)tCc>tTc	p.S45F		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	45					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.R44R(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GAGTGCCGATCCTGCGCTCTC	0.423													24	71					0	0	0.654019	0	0	T	103984727	C	T	103984727	3	4	92	1	0	0	0	0	1	0	0	0	15237	855	30	3	140	3	STAB2	12	103984727	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08		103984727	29867168	25	4052											
RB1	5925	broad.mit.edu	37	chr13	48919319	48919320	+	Frame_Shift_Del	DEL	TT	TT	-																															atgatgtattgtttgcactcTtcagcaaattggaaaggtaa																										TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr13:48919319_48919320delTT	uc001vcb.3	+	3	650_651	c.484_485delTT	c.(484-486)ttcfs	p.F162fs	RB1_uc010acs.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	162					G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)|p.F162fs*13(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTTTGCACTCTTCAGCAAATTG	0.287		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			39	48	---	---	---	---						-	48919320	TT	-	48919319	7	5	92	1	0	1	0	1	0	0	0	0	13098	1609	56	0	498	0	RB1	13	48919319	Frame_Shift_Del	DEL	TT	TCGA-DU-7290-01A-11D-2024-08		48919319	66250559	26	4053											
OLFM4	10562	broad.mit.edu	37	chr13	53603144	53603144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcgggctccagctccagccGcagcttaggcagcggaggtt	6	7	15	13	3	0	0	0	0	0	0	3	1	2	1	3	4	4	6	3	4	1	2			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr13:53603144G>A	uc001vhl.3	+	0	269	c.173G>A	c.(172-174)cGc>cAc	p.R58H	OLFM4_uc001vhk.2_Missense_Mutation_p.R58H	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	Homo sapiens olfactomedin 4 (OLFM4), mRNA.	58	Ser-rich.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		agctccagccgcagcTTAGGC	0.582													4	61					0	0	0.150653	0	0	A	53603144	G	A	53603144	3	1	92	1	0	0	0	0	1	0	0	0	10855	1087	38	1	175	1	OLFM4	13	53603144	Missense_Mutation	SNP	G	TCGA-DU-7290-01A-11D-2024-08	4683825	53603144	61566734	27	4054											
PRPF8	10594	broad.mit.edu	37	chr17	1585131	1585131	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacttcctgctgtccctcaaCggctggtggtcatagaacca	8	10	9	14	1	2	1	2	0	0	1	4	1	4	1	3	3	3	2	3	3	3	2	rs143150486		TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr17:1585131C>T	uc002fte.3	-	4	750	c.636G>A	c.(634-636)ccG>ccA	p.P212P		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	212						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGTCCCTCAACGGCTGGTGGT	0.542													8	136					0	0	0.27861	0	0	T	1585131	C	T	1585131	2	4	92	1	0	0	0	0	0	0	0	1	12575	523	19	1		1	PRPF8	17	1585131	Silent	SNP	C	TCGA-DU-7290-01A-11D-2024-08		1585131	79610079	28	4055											
EFNB3	1949	broad.mit.edu	37	chr17	7611424	7611424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggggtgctcagggccggCgctgtgaggcaccccctgcc	4	6	17	14	2	1	1	1	1	0	0	1	1	1	1	4	5	2	3	4	5	1	1			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr17:7611424C>T	uc002gis.3	+	1	668	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C		NM_001406	NP_001397	Q15768	EFNB3_HUMAN	Homo sapiens ephrin-B3 (EFNB3), mRNA.	91					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	p.R91C(2)		large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TCAGGGCCGGCGCTGTGAGGC	0.602													10	113					0	0	0.361761	0	0	T	7611424	C	T	7611424	3	4	92	1	0	0	0	0	1	0	0	0	4957	768	27	1	277	1	EFNB3	17	7611424	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08	6026293	7611424	73583786	29	4056											
MYH13	8735	broad.mit.edu	37	chr17	10214497	10214497	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttttccgcttcctgaaGattcttgccagtttctgcaa	6	16	8	11	1	3	2	0	1	3	1	5	2	5	2	3	1	2	3	3	1	2	6			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr17:10214497G>T	uc002gmk.1	-	32	4669	c.4579C>A	c.(4579-4581)Ctt>Att	p.L1527I		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1527					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCTTCCTGAAGATTCTTGCCA	0.443													16	49					2.48551e-13	2.79074e-13	0.520397	1	0	T	10214497	G	T	10214497	3	4	92	1	0	0	0	0	1	0	0	0	10032	942	33	5	1273	5	MYH13	17	10214497	Missense_Mutation	SNP	G	TCGA-DU-7290-01A-11D-2024-08	2603073	10214497	70980713	30	4057											
CCDC144B	284047	broad.mit.edu	37	chr17	18455000	18455000	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttctccacagtaagttgcGtactgacctctgctatcatc	8	14	6	13	1	3	1	1	1	2	0	5	1	3	1	2	0	3	4	2	0	3	5			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr17:18455000G>A	uc002gua.4	-	14		c.4085C>T								Homo sapiens coiled-coil domain containing 144B (pseudogene) (CCDC144B), non-coding RNA.											NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(6)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	36						AGTAAGTTGCGTACTGACCTC	0.383													5	49					0	0	0.307466	0	0	A	18455000	G	A	18455000	1	1	92	0	1	0	0	0	0	0	0	0	2778	1160	40	1		1	CCDC144B	17	18455000	RNA	SNP	G	TCGA-DU-7290-01A-11D-2024-08	8240503	18455000	62740210	31	4058											
PRKCA	5578	broad.mit.edu	37	chr17	64785022	64785022	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggagagggacgtgagagaGcatgccttcttccggaggat	9	7	18	7	2	1	3	0	1	1	2	2	8	2	6	2	5	2	1	2	5	0	2	rs2228945	byFrequency	TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr17:64785022G>A	uc002jfp.1	+	15	1823	c.1779G>A	c.(1777-1779)gaG>gaA	p.E593E		NM_002737	NP_002728	P17252	KPCA_HUMAN	Homo sapiens protein kinase C, alpha (PRKCA), mRNA.	593	Protein kinase.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	p.E593E(2)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	ACGTGAGAGAGCATGCCTTCT	0.537													4	73					0	0	0.184627	0	0	A	64785022	G	A	64785022	2	1	92	1	0	0	0	0	0	0	0	1	12507	962	34	3		3	PRKCA	17	64785022	Silent	SNP	G	TCGA-DU-7290-01A-11D-2024-08	46330022	64785022	16410188	32	4059											
ZNF519	162655	broad.mit.edu	37	chr18	14106371	14106371	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgaatcttgtatgccttgCtctggtaaaatgccttggtt	9	16	9	7	0	2	1	0	1	2	0	2	1	2	1	2	2	3	4	2	2	5	6			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr18:14106371C>T	uc002kst.2	-	2	381	c.168G>A	c.(166-168)gaG>gaA	p.E56E	ZNF519_uc002ksr.2_Intron|ZNF519_uc002ksq.2_Intron	NM_145287	NP_660330	Q8TB69	ZN519_HUMAN	Homo sapiens zinc finger protein 519 (ZNF519), transcript variant 1, mRNA.	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						GTATGCCTTGCTCTGGTAAAA	0.333													15	28					0	0	0.479597	0	0	T	14106371	C	T	14106371	2	4	92	1	0	0	0	0	0	0	0	1	17961	796	28	3		3	ZNF519	18	14106371	Silent	SNP	C	TCGA-DU-7290-01A-11D-2024-08		14106371	63970877	33	4060											
ICAM5	7087	broad.mit.edu	37	chr19	10401990	10401990	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcgcgcggcgcacactaCaggcgcgtgggctcattcgc	5	6	15	15	7	1	0	1	0	0	0	2	0	1	0	0	3	2	3	0	3	1	2			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr19:10401990C>G	uc002mnu.4	+	1	390	c.325C>G	c.(325-327)Cag>Gag	p.Q109E	ICAM5_uc002mnv.4_5'Flank	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	Homo sapiens intercellular adhesion molecule 5, telencephalin (ICAM5), mRNA.	109	Ig-like C2-type 1.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GCGCACACTACAGGCGCGTGG	0.682													27	56					0	0	0.729181	0	0	G	10401990	C	G	10401990	3	3	92	1	0	0	0	0	1	0	0	0	7483	479	17	5	331	5	ICAM5	19	10401990	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08		10401990	48726993	34	4061											
ZNF429	353088	broad.mit.edu	37	chr19	21720782	21720782	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttactcaacataagaaaattCataggatgggtgtggtggct	13	12	11	5	0	2	1	2	0	0	1	2	2	2	2	0	4	2	1	0	4	6	4			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr19:21720782C>A	uc002nqd.1	+	3	2064	c.1927C>A	c.(1927-1929)Cat>Aat	p.H643N	ZNF429_uc010ecu.2_Intron	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	Homo sapiens zinc finger protein 429 (ZNF429), mRNA.	643					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TAAGAAAATTCATAGGATggg	0.458													7	50					0.0381472	0.0400233	0.27861	1	0	A	21720782	C	A	21720782	3	1	92	1	0	0	0	0	1	0	0	0	17899	826	29	5	1941	5	ZNF429	19	21720782	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08	11318792	21720782	37408201	35	4062											
PSG9	5678	broad.mit.edu	37	chr19	43766011	43766011	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggaacagaagatactcaCggaggagattcagggtgact	15	6	14	6	1	2	5	2	1	0	4	2	8	2	7	0	4	2	0	0	4	3	2			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr19:43766011C>T	uc002owd.4	-	3	808	c.709_splice	c.e3+1	p.P237_splice	PSG9_uc002owe.4_Splice_Site_p.H237_splice|PSG9_uc010xwm.2_Intron|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Splice_Site_p.H237_splice	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	237					female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AAGATACTCACGGAGGAGATT	0.522													86	160					0	0	0.870114	0	0	T	43766011	C	T	43766011	5	4	92	1	0	0	0	0	0	0	1	0	12662	550	19	1	586	1	PSG9	19	43766011	Splice_Site	SNP	C	TCGA-DU-7290-01A-11D-2024-08	22045229	43766011	15362972	36	4063											
MXRA5	25878	broad.mit.edu	37	chrX	3229518	3229518	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgtgttcaatcttggcCggtttcatcaccacatccac	7	14	6	14	1	4	0	3	0	1	0	6	0	6	0	4	2	0	2	4	2	1	4			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chrX:3229518C>T	uc004crg.4	-	6	6883	c.6726G>A	c.(6724-6726)ccG>ccA	p.P2242P		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2242	Ig-like C2-type 7.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAATCTTGGCCGGTTTCATCA	0.517													30	104					0	0	0.760397	0	0	T	3229518	C	T	3229518	2	4	92	1	0	0	0	0	0	0	0	1	10003	639	23	2		2	MXRA5	23	3229518	Silent	SNP	C	TCGA-DU-7290-01A-11D-2024-08		3229518	152041042	37	4064											
MED12	9968	broad.mit.edu	37	chrX	70351408	70351408	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctctatcacagaacttggaCcagtggaccatgcgccagtc	10	8	9	14	1	2	1	1	0	1	1	3	3	2	3	4	2	2	0	4	2	2	2			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chrX:70351408C>A	uc004dyy.3	+	28	4255	c.4056C>A	c.(4054-4056)gaC>gaA	p.D1352E	MED12_uc011mpq.1_Missense_Mutation_p.D1352E|MED12_uc004dyz.3_Missense_Mutation_p.D1352E|MED12_uc004dza.3_Missense_Mutation_p.D1199E|MED12_uc010nla.3_5'UTR	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	1352					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AGAACTTGGACCAGTGGACCA	0.542			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						6	49					8.12818e-05	8.81701e-05	0.248553	1	0	A	70351408	C	A	70351408	3	1	92	1	0	0	0	0	1	0	0	0	9428	506	18	5	4170	5	MED12	23	70351408	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08	67121890	70351408	84919152	38	4065											
IL1RAPL2	26280	broad.mit.edu	37	chrX	105011344	105011344	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttggagaactccagcctaTaccctctattgccatgacca	10	12	6	13	0	1	2	0	1	1	1	2	3	2	2	5	1	4	0	5	1	4	6			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chrX:105011344T>G	uc004elz.1	+	10	2507	c.1751T>G	c.(1750-1752)aTa>aGa	p.I584R		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	584					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTCCAGCCTATACCCTCTATT	0.463													30	74					0	0	0.769981	0	0	G	105011344	T	G	105011344	3	3	92	1	0	0	0	0	1	0	0	0	7662	1406	49	5	1789	5	IL1RAPL2	23	105011344	Missense_Mutation	SNP	T	TCGA-DU-7290-01A-11D-2024-08	34659936	105011344	50259216	39	4066											
ARHGEF6	9459	broad.mit.edu	37	chrX	135862897	135862897	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttccacagagccaggcaTgagtctgttgatcagtttgc	8	13	10	10	0	2	3	1	2	1	1	3	3	3	3	2	1	2	3	2	1	0	4			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chrX:135862897T>A	uc004fab.3	-	0	607	c.145A>T	c.(145-147)Atg>Ttg	p.M49L		NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA.	49	CH.				JNK cascade|apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					GAGCCAGGCATGAGTCTGTTG	0.418													65	151					0	0	0.870114	0	0	A	135862897	T	A	135862897	3	1	92	1	0	0	0	0	1	0	0	0	910	1464	51	5	2273	5	ARHGEF6	23	135862897	Missense_Mutation	SNP	T	TCGA-DU-7290-01A-11D-2024-08	30851553	135862897	19407663	40	4067											
ARHGEF16	27237	broad.mit.edu	37	chr1	3394457	3394457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccctcccactgatctctGcctcccggtggctgctgaag	5	10	10	16	1	1	2	0	2	1	0	5	2	4	2	4	2	2	2	4	2	1	0			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr1:3394457G>A	uc001akg.4	+	10	1740	c.1492G>A	c.(1492-1494)Gcc>Acc	p.A498T	ARHGEF16_uc001aki.3_Missense_Mutation_p.A210T|ARHGEF16_uc001akj.3_Missense_Mutation_p.A210T|ARHGEF16_uc010nzh.2_Missense_Mutation_p.A202T	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA.	498					activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		ACTGATCTCTGCCTCCCGGTG	0.622													20	51					0	0	0.624587	0	0	A	3394457	G	A	3394457	3	1	93	1	0	0	0	0	1	0	0	0	899	1319	46	3	1530	3	ARHGEF16	1	3394457	Missense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08		3394457	245856164	1	4068											
ADCY10	55811	broad.mit.edu	37	chr1	167791265	167791265	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccacacattgttaccagAtagctacagaggaataaagt	16	9	8	8	0	0	2	0	0	0	2	0	3	0	3	2	1	4	2	2	1	6	5			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr1:167791265A>T	uc001ger.3	-	29	4581	c.4283T>A	c.(4282-4284)aTc>aAc	p.I1428N	ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Missense_Mutation_p.I1275N|ADCY10_uc009wvk.3_Missense_Mutation_p.I1336N	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1428					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTGTTACCAGATAGCTACAGA	0.353													14	34					0	0	0.520397	0	0	T	167791265	A	T	167791265	3	4	93	1	0	0	0	0	1	0	0	0	293	333	12	5	565	5	ADCY10	1	167791265	Missense_Mutation	SNP	A	TCGA-DU-7292-01A-11D-2024-08	164396808	167791265	81459356	2	4069											
TNNI1	7135	broad.mit.edu	37	chr1	201384346	201384346	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcccccagcctcaccttcaGcaagagtttgcgggaggcag	9	6	12	14	1	2	1	2	0	0	1	2	2	2	2	4	2	4	3	4	2	1	2			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr1:201384346G>A	uc021phe.1	-	2	52	c.52C>T	c.(52-54)Ctg>Ttg	p.L18L	TNNI1_uc021phd.1_5'UTR|TNNI1_uc001gwo.1_Non-coding_Transcript|TNNI1_uc001gwp.3_5'UTR	NM_003281	NP_003272	P19237	TNNI1_HUMAN	Homo sapiens troponin I type 1 (skeletal, slow) (TNNI1), mRNA.	18	Involved in binding TNC.				muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						CTCACCTTCAGCAAGAGTTTG	0.582													7	23					0	0	0.27861	0	0	A	201384346	G	A	201384346	2	1	93	1	0	0	0	0	0	0	0	1	16323	962	34	3		3	TNNI1	1	201384346	Silent	SNP	G	TCGA-DU-7292-01A-11D-2024-08	33593081	201384346	47866275	3	4070											
REN	5972	broad.mit.edu	37	chr1	204135375	204135377	+	In_Frame_Del	DEL	AGC	AGC	-																															caaaggtacaggagccccagAgcagcagcagcagtccccag																								rs142739309		TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr1:204135375_204135377delAGC	uc001haq.2	-	0	89_91	c.45_47delGCT	c.(43-48)ctgctc>ctc	p.15_16LL>L		NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	15					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GGAGCCCCAGAGCAGCAGCAGCA	0.581													9	1700	---	---	---	---						-	204135377	AGC	-	204135375	7	5	93	1	0	1	0	1	0	0	0	0	13224	304	11	0	1213	0	REN	1	204135375	In_Frame_Del	DEL	AGC	TCGA-DU-7292-01A-11D-2024-08	2751029	204135375	45115246	4	4071											
HGD	3081	broad.mit.edu	37	chr3	120360508	120360508	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagggtgtataattcccGtgccaggccacaacattgaa	11	11	10	9	1	0	1	0	1	0	0	1	1	1	1	3	2	2	2	3	2	5	6			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr3:120360508G>A	uc003edw.3	-	10	1267	c.807C>T	c.(805-807)caC>caT	p.H269H	HGD_uc003edv.3_Silent_p.H128H	NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	269					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TATAATTCCCGTGCCAGGCCA	0.438													19	60					0	0	0.592651	0	0	A	120360508	G	A	120360508	2	1	93	1	0	0	0	0	0	0	0	1	7084	1136	40	1		1	HGD	3	120360508	Silent	SNP	G	TCGA-DU-7292-01A-11D-2024-08		120360508	77661922	5	4072											
ENAM	10117	broad.mit.edu	37	chr4	71509397	71509397	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctactacgttaataatgccGctggaccagaagaaagcact	14	8	9	10	2	0	2	0	0	0	2	0	3	0	3	2	1	4	4	2	1	6	4			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr4:71509397G>T	uc011caw.1	+	8	2535	c.2254G>T	c.(2254-2256)Gct>Tct	p.A752S		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	752					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	p.A752T(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TAATAATGCCGCTGGACCAGA	0.453													33	64					3.67414e-24	4.04688e-24	0.760397	1	0	T	71509397	G	T	71509397	3	4	93	1	0	0	0	0	1	0	0	0	5112	1087	38	5	2284	5	ENAM	4	71509397	Missense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08		71509397	119644879	6	4073											
ADAMTS3	9508	broad.mit.edu	37	chr4	73434466	73434466	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggctgctatcaaccaaagtGacaggagaaccatcacgagt	14	6	10	11	2	2	2	2	1	0	1	2	4	2	2	2	2	3	2	2	2	4	1			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr4:73434466G>C	uc003hgk.2	-	0	51	c.14C>G	c.(13-15)tCa>tGa	p.S5*		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	5					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAACCAAAGTGACAGGAGAAC	0.448													14	22					0	0	0.539581	0	0	C	73434466	G	C	73434466	4	2	93	1	0	0	0	0	0	1	0	0	267	1294	45	5	3691	5	ADAMTS3	4	73434466	Nonsense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08	1925069	73434466	117719810	7	4074											
CXCL9	4283	broad.mit.edu	37	chr4	76927403	76927403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtgctgatgcaggaacagCgaccctttctcactactggg	8	10	12	11	1	1	1	1	1	1	0	2	3	1	2	1	3	5	2	1	3	2	2			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr4:76927403C>T	uc003hjh.1	-	1	128	c.89G>A	c.(88-90)cGc>cAc	p.R30H		NM_002416	NP_002407	Q07325	CXCL9_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 9 (CXCL9), mRNA.	30					G-protein coupled receptor protein signaling pathway|cell-cell signaling|cellular defense response|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GCAGGAACAGCGACCCTTTCT	0.433													39	94					0	0	0.796494	0	0	T	76927403	C	T	76927403	3	4	93	1	0	0	0	0	1	0	0	0	4089	768	27	1	300	1	CXCL9	4	76927403	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08	3492937	76927403	114226873	8	4075											
SEC24D	9871	broad.mit.edu	37	chr4	119736623	119736623	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taccctgctgcggaggatatCcagcacccaaggtctggcct	8	8	11	14	1	1	0	0	0	1	0	2	2	2	2	4	4	4	2	4	4	3	2			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr4:119736623C>A	uc003ici.4	-	4	928	c.656G>T	c.(655-657)gGa>gTa	p.G219V	SEC24D_uc003icj.4_Missense_Mutation_p.G219V|SEC24D_uc003icl.2_Non-coding_Transcript|SEC24D_uc010imz.1_Non-coding_Transcript|SEC24D_uc011cgg.1_Non-coding_Transcript	NM_014822	NP_055637	O94855	SC24D_HUMAN	Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA.	219	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding	p.G219V(2)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CGGAGGATATCCAGCACCCAA	0.557													21	36					3.62473e-10	3.82611e-10	0.608945	1	0	A	119736623	C	A	119736623	3	1	93	1	0	0	0	0	1	0	0	0	13997	855	30	5	2518	5	SEC24D	4	119736623	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08	42809220	119736623	71417653	9	4076											
DCHS2	54798	broad.mit.edu	37	chr4	155254333	155254333	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taccggatgagtccgttccgCccactgtctctgtcttccgc	4	12	9	16	4	2	1	0	1	2	0	6	2	5	2	5	1	1	1	5	1	1	3			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr4:155254333C>A	uc003inw.2	-	8	1530	c.1530G>T	c.(1528-1530)ggG>ggT	p.G510G	DCHS2_uc003inx.2_Silent_p.G1009G	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	510	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTCCGTTCCGCCCACTGTCTC	0.632													3	27					0.115264	0.118379	0.115264	1	0	A	155254333	C	A	155254333	2	1	93	1	0	0	0	0	0	0	0	1	4288	726	26	5		5	DCHS2	4	155254333	Silent	SNP	C	TCGA-DU-7292-01A-11D-2024-08	35517710	155254333	35899943	10	4077											
DCHS2	54798	broad.mit.edu	37	chr4	155287390	155287390	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcaatggtaaaaagggaCgacacgtttcctggaataag	15	8	12	6	2	1	0	1	0	0	0	2	4	2	2	1	3	0	2	1	3	6	3	rs78251264	byFrequency	TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr4:155287390C>T	uc003inw.2	-	4	666	c.666G>A	c.(664-666)tcG>tcA	p.S222S	DCHS2_uc003inx.2_Silent_p.S816S	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	222	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TAAAAAGGGACGACACGTTTC	0.448													6	46					0	0	0.217242	0	0	T	155287390	C	T	155287390	2	4	93	1	0	0	0	0	0	0	0	1	4288	523	19	1		1	DCHS2	4	155287390	Silent	SNP	C	TCGA-DU-7292-01A-11D-2024-08	33057	155287390	35866886	11	4078											
CLCN3	1182	broad.mit.edu	37	chr4	170601232	170601232	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaatgacaaatggaggcagCattaacagttctacacattt	16	10	7	8	0	1	1	0	1	1	0	1	2	1	2	0	2	3	3	0	2	4	4			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr4:170601232C>T	uc003ish.3	+	2	751	c.192C>T	c.(190-192)agC>agT	p.S64S	CLCN3_uc003isi.3_Silent_p.S64S|CLCN3_uc011cka.2_Silent_p.S64S|CLCN3_uc011cjz.2_Silent_p.S47S|CLCN3_uc003isj.2_Silent_p.S37S	NM_173872	NP_776297	P51790	CLCN3_HUMAN	Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA.	64					endosomal lumen acidification	Golgi membrane|cell surface|early endosome membrane|integral to membrane|late endosome membrane|transport vesicle membrane	ATP binding|PDZ domain binding|antiporter activity|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		ATGGAGGCAGCATTAACAGTT	0.368													17	39					0	0	0.557998	0	0	T	170601232	C	T	170601232	2	4	93	1	0	0	0	0	0	0	0	1	3464	709	25	3		3	CLCN3	4	170601232	Silent	SNP	C	TCGA-DU-7292-01A-11D-2024-08	15313842	170601232	20553044	12	4079											
MTRR	4552	broad.mit.edu	37	chr5	7875377	7875377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttgggttctctaggtctcgGtgattcagaatacacctact	8	15	9	9	1	3	2	1	1	2	1	5	2	3	2	1	3	2	1	1	3	4	6			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr5:7875377G>A	uc003jed.3	+	3	401	c.371G>A	c.(370-372)gGt>gAt	p.G124D	MTRR_uc010itn.1_Non-coding_Transcript|MTRR_uc003jee.4_Missense_Mutation_p.G97D|MTRR_uc003jef.4_Non-coding_Transcript|MTRR_uc003jeg.4_Non-coding_Transcript|MTRR_uc010ito.3_Non-coding_Transcript	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR), transcript variant 2, mRNA.	124	Flavodoxin-like.				methionine biosynthetic process	cytosol	FMN binding|NADP binding|[methionine synthase] reductase activity|flavin adenine dinucleotide binding|iron ion binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CTAGGTCTCGGTGATTCAGAA	0.348													43	75					0	0	0.853193	0	0	A	7875377	G	A	7875377	3	1	93	1	0	0	0	0	1	0	0	0	9961	1261	44	3	385	3	MTRR	5	7875377	Missense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08		7875377	173039883	13	4080											
FYB	2533	broad.mit.edu	37	chr5	39202453	39202453	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgggagttctcggtacttaGgggcggcttctggccaaagg	7	10	16	8	2	2	0	0	0	2	0	3	1	2	1	1	7	1	3	1	7	3	4			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr5:39202453G>A	uc003jls.3	-	0	677	c.610C>T	c.(610-612)Cta>Tta	p.L204L	FYB_uc003jlt.3_Silent_p.L204L|FYB_uc003jlu.3_Silent_p.L204L|FYB_uc011cpl.2_Silent_p.L214L	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	204					NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TCGGTACTTAGGGGCGGCTTC	0.532													33	37					0	0	0.788014	0	0	A	39202453	G	A	39202453	2	1	93	1	0	0	0	0	0	0	0	1	6124	991	35	3		3	FYB	5	39202453	Silent	SNP	G	TCGA-DU-7292-01A-11D-2024-08	31327076	39202453	141712807	14	4081											
DDX4	54514	broad.mit.edu	37	chr5	55063741	55063741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcgaagataatccaacaCggaacagagggttttccaag	15	7	10	9	2	0	2	0	0	0	2	2	4	2	3	2	2	3	1	2	2	5	3			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr5:55063741C>T	uc003jqg.4	+	6	466	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W	DDX4_uc010ivz.3_Intron|DDX4_uc003jqh.4_Missense_Mutation_p.R123W|DDX4_uc003jqj.3_Missense_Mutation_p.R24W	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.	123	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TAATCCAACACGGAACAGAGG	0.333													17	38					0	0	0.624587	0	0	T	55063741	C	T	55063741	3	4	93	1	0	0	0	0	1	0	0	0	4360	527	19	1	430	1	DDX4	5	55063741	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08	15861288	55063741	125851519	15	4082											
PCDHAC2	56134	broad.mit.edu	37	chr5	140202819	140202819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcggacgcgcaggagaacGccctggtgtcctactcgctg	7	6	14	14	6	0	1	0	0	0	1	2	3	1	2	2	3	2	2	2	3	2	1			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr5:140202819G>A	uc003lhl.2	+	0	1459	c.1459G>A	c.(1459-1461)Gcc>Acc	p.A487T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.A487T|PCDHAC2_uc003lhj.1_Missense_Mutation_p.A487T	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	502	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGAGAACGCCCTGGTGTC	0.662													32	63					0	0	0.847076	0	0	A	140202819	G	A	140202819	3	1	93	1	0	0	0	0	1	0	0	0	11533	1087	38	1		1	PCDHAC2	5	140202819	Missense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08	85139078	140202819	40712441	16	4083											
PCDHB4	56131	broad.mit.edu	37	chr5	140503168	140503168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggcgttcgagttccgcGtgggcgcctcagaccgcggt	4	8	16	13	7	1	1	1	0	0	1	3	2	2	1	3	3	1	3	3	3	0	2			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr5:140503168G>A	uc003lip.1	+	0	1588	c.1588G>A	c.(1588-1590)Gtg>Atg	p.V530M		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	530	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGTTCCGCGTGGGCGCCTC	0.672													32	73					0	0	0.769981	0	0	A	140503168	G	A	140503168	3	1	93	1	0	0	0	0	1	0	0	0	11544	1145	40	1	1590	1	PCDHB4	5	140503168	Missense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08	300349	140503168	40412092	17	4084											
GRM4	2914	broad.mit.edu	37	chr6	33996019	33996019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggctttgaggctgcgcttgCgcttgggcacgttctgctcc	2	12	14	13	4	1	1	0	1	1	0	2	1	2	1	1	3	3	7	1	3	0	4			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr6:33996019C>T	uc003oir.4	-	8	2930	c.2567G>A	c.(2566-2568)cGc>cAc	p.R856H	GRM4_uc011dsn.2_Missense_Mutation_p.R809H|GRM4_uc010jvh.3_Missense_Mutation_p.R856H|GRM4_uc010jvi.3_Missense_Mutation_p.R548H|GRM4_uc003oio.3_Missense_Mutation_p.R548H|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Missense_Mutation_p.R716H|GRM4_uc003oiq.3_Missense_Mutation_p.R723H|GRM4_uc011dsm.2_Missense_Mutation_p.R687H	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	856					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GCTGCGCTTGCGCTTGGGCAC	0.602													18	48					0	0	0.557998	0	0	T	33996019	C	T	33996019	3	4	93	1	0	0	0	0	1	0	0	0	6799	768	27	1	179	1	GRM4	6	33996019	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08		33996019	137119048	18	4085											
CRHR2	1395	broad.mit.edu	37	chr7	30695575	30695575	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcggatgtggtggacgcGcgtaactttgtcattaggat	7	13	14	7	4	2	0	1	0	1	0	3	3	2	3	0	4	1	1	0	4	2	3			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr7:30695575G>A	uc003tbn.3	-	8	1130	c.885C>T	c.(883-885)cgC>cgT	p.R295R	CRHR2_uc010kvw.2_Silent_p.R295R|CRHR2_uc010kvx.2_Silent_p.R294R|CRHR2_uc022abg.1_Non-coding_Transcript|CRHR2_uc010kvy.2_Silent_p.R131R|CRHR2_uc003tbo.3_Silent_p.R281R|CRHR2_uc003tbp.3_Silent_p.R322R	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	Homo sapiens corticotropin releasing hormone receptor 2 (CRHR2), transcript variant 1, mRNA.	295					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGGTGGACGCGCGTAACTTTG	0.552													36	65					0	0	0.827153	0	0	A	30695575	G	A	30695575	2	1	93	1	0	0	0	0	0	0	0	1	3872	1074	38	1		1	CRHR2	7	30695575	Silent	SNP	G	TCGA-DU-7292-01A-11D-2024-08		30695575	128443088	19	4086											
ARPP21	10777	broad.mit.edu	37	chr7	38282029	38282029	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaaacacaaaagcttacCatttgcatcttttgaccaat	16	11	5	9	0	1	1	0	1	1	0	1	2	1	2	2	1	4	2	2	1	6	4			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr7:38282029C>A	uc022aby.1	-	5	696	c.289_splice	c.e5+1	p.D97_splice	ARPP21_uc003tfu.3_Splice_Site_p.D81_splice|ARPP21_uc003tfv.3_Splice_Site_p.D81_splice	NM_001003806	NP_001003806	Q9UBL0	ARP21_HUMAN	Homo sapiens TCR gamma alternate reading frame protein (TARP), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	248						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						AAAAGCTTACCATTTGCATCT	0.408													44	103					6.68952e-21	7.26291e-21	0.864702	1	0	A	38282029	C	A	38282029	5	1	93	1	0	0	0	0	0	0	1	0	978	609	21	5		5	ARPP21	7	38282029	Splice_Site	SNP	C	TCGA-DU-7292-01A-11D-2024-08	7586454	38282029	120856634	20	4087											
EGFR	1956	broad.mit.edu	37	chr7	55221711	55221711	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctcctccataggtctgccGcaaattccgagacgaagcca	10	8	8	15	3	2	1	0	0	2	1	5	3	4	1	5	1	2	1	5	1	3	2			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr7:55221711G>C	uc003tqk.3	+	6	1001	c.755G>C	c.(754-756)cGc>cCc	p.R252P	EGFR_uc003tqh.3_Missense_Mutation_p.R252P|EGFR_uc003tqi.3_Missense_Mutation_p.R252P|EGFR_uc003tqj.3_Missense_Mutation_p.R252P|EGFR_uc022adm.1_Missense_Mutation_p.R252P|EGFR_uc010kzg.2_Missense_Mutation_p.R207P|EGFR_uc022adn.1_Missense_Mutation_p.R207P|EGFR_uc011kco.2_Missense_Mutation_p.R199P|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	252					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.R252C(1)|p.C251Y(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TAGGTCTGCCGCAAATTCCGA	0.587		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			877	231					0	0	0.870114	0	0	C	55221711	G	C	55221711	3	2	93	1	0	0	0	0	1	0	0	0	4967	1087	38	5	781	5	EGFR	7	55221711	Missense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08	16939682	55221711	103916952	21	4088											
ASNS	440	broad.mit.edu	37	chr7	97498435	97498435	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acactgaacagaaaggcaatCatcactgccaaacagcgccc	16	4	7	14	1	2	2	2	1	0	1	2	2	2	2	2	1	4	1	2	1	4	0			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr7:97498435C>G	uc003uot.4	-	2	540	c.34G>C	c.(34-36)Gat>Cat	p.D12H	ASNS_uc011kin.2_Intron|ASNS_uc011kio.2_Intron|ASNS_uc003uou.4_Missense_Mutation_p.D12H|ASNS_uc003uov.4_Missense_Mutation_p.D12H|ASNS_uc003uox.4_Intron	NM_133436	NP_001171548	P08243	ASNS_HUMAN	Homo sapiens asparagine synthetase (glutamine-hydrolyzing) (ASNS), transcript variant 1, mRNA.	12	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	ATP binding|asparagine synthase (glutamine-hydrolyzing) activity			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GAAAGGCAATCATCACTGCCA	0.418													15	74					0	0	0.539581	0	0	G	97498435	C	G	97498435	3	3	93	1	0	0	0	0	1	0	0	0	1048	826	29	5	1695	5	ASNS	7	97498435	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08	42276724	97498435	61640228	22	4089											
ADAM28	10863	broad.mit.edu	37	chr8	24187575	24187575	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactttggaatgtttcatgaCgactattcttgcaagtgtcc	10	15	8	8	1	2	1	1	1	1	0	3	3	3	2	1	1	2	2	1	1	4	5	rs151133749	byFrequency	TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr8:24187575C>T	uc003xdy.3	+	10	1133	c.1050C>T	c.(1048-1050)gaC>gaT	p.D350D	ADAM28_uc003xdx.3_Silent_p.D350D|ADAM28_uc011kzz.2_Silent_p.D117D|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.D37D	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	350	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.H349Y(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGTTTCATGACGACTATTCTT	0.453													31	61					0	0	0.729181	0	0	T	24187575	C	T	24187575	2	4	93	1	0	0	0	0	0	0	0	1	246	535	19	1		1	ADAM28	8	24187575	Silent	SNP	C	TCGA-DU-7292-01A-11D-2024-08		24187575	122176447	23	4090											
TRPA1	8989	broad.mit.edu	37	chr8	72987644	72987644	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcctcaggctgcgcttcaTtgaccccaccccggacgcca	6	8	8	19	3	2	1	2	1	0	0	3	2	3	2	6	2	1	2	6	2	0	3			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr8:72987644T>C	uc003xza.3	-	0	176	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	1						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CTGCGCTTCATTGACCCCACC	0.667													22	42					0	0	0.608945	0	0	C	72987644	T	C	72987644	3	2	93	1	0	0	0	0	1	0	0	0	16574	1493	52	3	3466	3	TRPA1	8	72987644	Missense_Mutation	SNP	T	TCGA-DU-7292-01A-11D-2024-08	48800069	72987644	73376378	24	4091											
FER1L6	654463	broad.mit.edu	37	chr8	125082819	125082819	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accatggtcttgatggagacCgagtcataggaaaatttaag	14	10	11	6	1	2	2	1	1	1	1	2	5	2	3	2	3	0	0	2	3	4	4			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr8:125082819C>T	uc003yqw.3	+	29	4152	c.3946C>T	c.(3946-3948)Cga>Tga	p.R1316*	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1316						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGATGGAGACCGAGTCATAGG	0.398													49	86					0	0	0.870114	0	0	T	125082819	C	T	125082819	4	4	93	1	0	0	0	0	0	1	0	0	5815	644	23	2	4060	2	FER1L6	8	125082819	Nonsense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08	52095175	125082819	21281203	25	4092											
ANXA1	301	broad.mit.edu	37	chr9	75773611	75773611	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatttctctctcattcttagCaaactgtgaagtcatccaaa	12	15	4	10	0	4	1	2	1	3	0	7	1	5	1	1	0	2	1	1	0	5	4			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr9:75773611C>T	uc004ajf.1	+	3	141	c.67_splice	c.e3-1	p.Q23_splice	ANXA1_uc004ajg.1_Splice_Site_p.Q23_splice	NM_000700	NP_000691	P04083	ANXA1_HUMAN	Homo sapiens annexin A1 (ANXA1), mRNA.	23					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TCATTCTTAGCAAACTGTGAA	0.373													8	29					0	0	0.27861	0	0	T	75773611	C	T	75773611	5	4	93	1	0	0	0	0	0	0	1	0	714	724	25	3	73	3	ANXA1	9	75773611	Splice_Site	SNP	C	TCGA-DU-7292-01A-11D-2024-08		75773611	65439820	26	4093											
GCNT1	2650	broad.mit.edu	37	chr9	79117864	79117864	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagtgtggtttatgcatcGtggagccgggttcaggctga	7	11	17	6	2	1	2	1	1	0	1	2	4	1	3	1	4	2	4	1	4	1	3			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr9:79117864G>A	uc022bif.1	+	0	567	c.567G>A	c.(565-567)tcG>tcA	p.S189S	GCNT1_uc010mpf.3_Silent_p.S189S|GCNT1_uc010mpg.3_Silent_p.S189S|GCNT1_uc010mph.3_Silent_p.S189S|GCNT1_uc004akf.4_Silent_p.S189S|GCNT1_uc010mpi.3_Silent_p.S189S|GCNT1_uc004akh.4_Silent_p.S189S	NM_001490	NP_001481	Q02742	GCNT1_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 1, core 2 (GCNT1), transcript variant 2, mRNA.	189	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						TTTATGCATCGTGGAGCCGGG	0.458													24	54					0	0	0.654019	0	0	A	79117864	G	A	79117864	2	1	93	1	0	0	0	0	0	0	0	1	6300	1132	40	1		1	GCNT1	9	79117864	Silent	SNP	G	TCGA-DU-7292-01A-11D-2024-08	3344253	79117864	62095567	27	4094											
MRVI1	10335	broad.mit.edu	37	chr11	10622600	10622600	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccgttgctttcgacatgcGcttttcctgcggggaaggag	5	13	13	10	4	0	0	0	0	0	0	3	3	2	2	2	3	3	3	2	3	1	5			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr11:10622600G>A	uc010rcc.1	-	14	2268	c.1882C>T	c.(1882-1884)Cgc>Tgc	p.R628C	MRVI1_uc010rcb.1_Missense_Mutation_p.R620C|MRVI1_uc001miw.2_Missense_Mutation_p.R619C|MRVI1_uc001mix.3_Missense_Mutation_p.R313C|MRVI1_uc001miz.2_Missense_Mutation_p.R537C|MRVI1_uc010rcd.1_Missense_Mutation_p.R422C|MRVI1_uc009ygd.1_Missense_Mutation_p.R313C|MRVI1_uc010rce.1_Non-coding_Transcript	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	601					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTCGACATGCGCTTTTCCTGC	0.507													67	133					0	0	0.870114	0	0	A	10622600	G	A	10622600	3	1	93	1	0	0	0	0	1	0	0	0	9853	1087	38	1	884	1	MRVI1	11	10622600	Missense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08		10622600	124383916	28	4095											
OR5T3	390154	broad.mit.edu	37	chr11	56020051	56020051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataaatccatttcatttatcGgatgtgcaacacagatgctt	13	14	6	8	1	1	1	1	0	0	1	3	2	2	2	1	1	3	2	1	1	4	5			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr11:56020051G>A	uc010rjd.2	+	0	376	c.376G>A	c.(376-378)Gga>Aga	p.G126R		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTCATTTATCGGATGTGCAAC	0.363													52	95					0	0	0.870114	0	0	A	56020051	G	A	56020051	3	1	93	1	0	0	0	0	1	0	0	0	11183	1117	39	2	378	2	OR5T3	11	56020051	Missense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08	45397451	56020051	78986465	29	4096											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57076923	57076923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacactgaggctaaactcacCgacccagcctcgctttccca	11	7	6	17	2	1	1	1	1	0	0	3	2	2	1	4	1	3	2	4	1	3	2			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr11:57076923C>T	uc001njr.3	-	4	3574	c.3262G>A	c.(3262-3264)Ggt>Agt	p.G1088S	TNKS1BP1_uc001njs.3_Missense_Mutation_p.G1088S|TNKS1BP1_uc009ymd.1_Missense_Mutation_p.G539S	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	1088	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTAAACTCACCGACCCAGCCT	0.642													15	42					0	0	0.457914	0	0	T	57076923	C	T	57076923	3	4	93	1	0	0	0	0	1	0	0	0	16317	652	23	2	1951	2	TNKS1BP1	11	57076923	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08	1056872	57076923	77929593	30	4097											
NUMA1	4926	broad.mit.edu	37	chr11	71725528	71725528	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgctcctgggtcagccgCgccacctccctttcctgctg	2	9	9	21	3	1	0	1	0	0	0	4	0	4	0	8	1	2	2	8	1	0	1			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr11:71725528C>T	uc001orl.1	-	14	3193	c.3021G>A	c.(3019-3021)gcG>gcA	p.A1007A	NUMA1_uc009ysw.1_Silent_p.A570A|NUMA1_uc001ork.1_Intron|NUMA1_uc001orm.1_Silent_p.A1007A|NUMA1_uc001orn.2_Silent_p.A570A|NUMA1_uc009ysx.1_Silent_p.A1007A|NUMA1_uc001oro.1_Silent_p.A1007A	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	1007					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	p.V1006G(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GGGTCAGCCGCGCCACCTCCC	0.687			T	RARA	APL								31	71					0	0	0.760397	0	0	T	71725528	C	T	71725528	2	4	93	1	0	0	0	0	0	0	0	1	10750	755	27	1		1	NUMA1	11	71725528	Silent	SNP	C	TCGA-DU-7292-01A-11D-2024-08	14648605	71725528	63280988	31	4098											
PIP4K2C	79837	broad.mit.edu	37	chr12	57989814	57989814	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacctctccaactatcaccaGgtcaggcctctctctagccc	9	9	5	18	0	5	0	2	0	3	0	7	0	5	0	5	2	3	0	5	2	4	2			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr12:57989814G>A	uc001sou.3	+	4	644	c.513_splice	c.e4+1	p.Q171_splice	PIP4K2C_uc001sot.3_Splice_Site_p.Q171_splice|PIP4K2C_uc010srs.2_Splice_Site_p.Q153_splice|PIP4K2C_uc010srt.2_Intron	NM_001146258	NP_079055	Q8TBX8	PI42C_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, gamma (PIP4K2C), transcript variant 2, mRNA.	171	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					ACTATCACCAGGTCAGGCCTC	0.478													37	59					0	0	0.834066	0	0	A	57989814	G	A	57989814	5	1	93	1	0	0	0	0	0	0	1	0	11938	1014	35	3	527	3	PIP4K2C	12	57989814	Splice_Site	SNP	G	TCGA-DU-7292-01A-11D-2024-08		57989814	75862081	32	4099											
WIF1	11197	broad.mit.edu	37	chr12	65460502	65460502	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtccaccattcatacatcGtggggtacaaagggcttata	13	10	9	9	1	1	0	1	0	0	0	3	0	2	0	2	3	2	2	2	3	6	5			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr12:65460502G>A	uc001ssk.3	-	5	1024	c.649C>T	c.(649-651)Cga>Tga	p.R217*		NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	Homo sapiens WNT inhibitory factor 1 (WIF1), mRNA.	217	EGF-like 2.				Wnt receptor signaling pathway|multicellular organismal development	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TTCATACATCGTGGGGTACAA	0.428			T	HMGA2	pleomorphic salivary gland adenoma								6	28					0	0	0.217242	0	0	A	65460502	G	A	65460502	4	1	93	1	0	0	0	0	0	1	0	0	17363	1153	40	1	510	1	WIF1	12	65460502	Nonsense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08	7470688	65460502	68391393	33	4100											
WASF3	10810	broad.mit.edu	37	chr13	27257045	27257045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccagtagctgaggcgaagCggcaagagcctgcacagcca	11	3	13	14	2	0	2	0	1	0	1	0	3	0	2	4	2	5	4	4	2	3	1			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr13:27257045C>T	uc001uqv.3	+	8	1510	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	WASF3_uc001uqw.3_Missense_Mutation_p.R426W	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	429					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TGAGGCGAAGCGGCAAGAGCC	0.647													27	34					0	0	0.769981	0	0	T	27257045	C	T	27257045	3	4	93	1	0	0	0	0	1	0	0	0	17251	759	27	1	1311	1	WASF3	13	27257045	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08		27257045	87912833	34	4101											
SLITRK6	84189	broad.mit.edu	37	chr13	86368978	86368978	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	actatttagggctttcaattCctttttgtcgagatgcccgg	7	16	9	9	2	1	1	1	0	0	1	3	2	2	1	2	2	1	1	2	2	3	7			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr13:86368978C>T	uc001vll.1	-	1	2125	c.1666G>A	c.(1666-1668)Gaa>Aaa	p.E556K	SLITRK6_uc021rla.1_Missense_Mutation_p.E556K	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	556	LRRCT 2.					integral to membrane		p.E556K(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GCTTTCAATTCCTTTTTGTCG	0.453													37	57					0	0	0.827153	0	0	T	86368978	C	T	86368978	3	4	93	1	0	0	0	0	1	0	0	0	14747	864	30	3	863	3	SLITRK6	13	86368978	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08	59111933	86368978	28800900	35	4102											
CCDC64B	146439	broad.mit.edu	37	chr16	3085393	3085393	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccccctcccaggaatgaGtcccgccgctccagcacaaa	9	4	10	18	2	0	1	0	1	0	0	3	2	3	2	6	2	1	2	6	2	2	0			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr16:3085393G>A	uc002ctf.4	-	0	150	c.105C>T	c.(103-105)gaC>gaT	p.D35D	CCDC64B_uc002cte.4_5'Flank	NM_001103175	NP_001096645	A1A5D9	BICR2_HUMAN	Homo sapiens coiled-coil domain containing 64B (CCDC64B), mRNA.	35										breast(1)|endometrium(2)|large_intestine(1)	4						CCAGGAATGAGTCCCGCCGCT	0.692													5	10					0	0	0.184627	0	0	A	3085393	G	A	3085393	2	1	93	1	0	0	0	0	0	0	0	1	2836	1020	36	3		3	CCDC64B	16	3085393	Silent	SNP	G	TCGA-DU-7292-01A-11D-2024-08		3085393	87269360	36	4103											
OTOA	146183	broad.mit.edu	37	chr16	21702976	21702976	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctctctattcctggatgaCtggaatactgcagacatcct	10	12	8	11	0	1	2	0	1	1	1	4	4	3	4	2	2	3	2	2	2	3	3			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr16:21702976C>G	uc002djh.3	+	7	708	c.707C>G	c.(706-708)aCt>aGt	p.T236S	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.T157S	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	236					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TCCTGGATGACTGGAATACTG	0.468													14	30					0	0	0.520397	0	0	G	21702976	C	G	21702976	3	3	93	1	0	0	0	0	1	0	0	0	11302	565	20	5	771	5	OTOA	16	21702976	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08	18617583	21702976	68651777	37	4104											
MYH3	4621	broad.mit.edu	37	chr17	10554966	10554966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggggttgacagtgacaCagaagaggcctgagtaggtc	11	8	16	6	0	0	5	0	3	0	2	1	5	0	5	1	4	0	3	1	4	3	3			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr17:10554966C>T	uc002gmq.2	-	4	456	c.368G>A	c.(367-369)tGt>tAt	p.C123Y		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	123	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GACAGTGACACAGAAGAGGCC	0.498													38	73					0	0	0.834066	0	0	T	10554966	C	T	10554966	3	4	93	1	0	0	0	0	1	0	0	0	10036	478	17	3	5602	3	MYH3	17	10554966	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08		10554966	70640244	38	4105											
G6PC	2538	broad.mit.edu	37	chr17	41059630	41059630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcagggaaagataaagcCgacctacagatttcggtaag	14	9	10	8	2	1	2	1	0	0	2	2	4	1	3	2	2	2	1	2	2	5	5			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr17:41059630C>T	uc002icb.1	+	2	510	c.431C>T	c.(430-432)cCg>cTg	p.P144L	G6PC_uc010whf.1_Silent_p.A120A	NM_000151	NP_000142	P35575	G6PC_HUMAN	Homo sapiens glucose-6-phosphatase, catalytic subunit (G6PC), mRNA.	144					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AAGATAAAGCCGACCTACAGA	0.527													12	19					0	0	0.457914	0	0	T	41059630	C	T	41059630	3	4	93	1	0	0	0	0	1	0	0	0	6143	652	23	2	441	2	G6PC	17	41059630	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08	30504664	41059630	40135580	39	4106											
SAMD14	201191	broad.mit.edu	37	chr17	48193445	48193445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaggaggactggcgtcaCggctgtcatctttccaggga	7	9	14	11	2	4	0	3	0	1	0	5	3	5	3	1	5	0	2	1	5	0	1			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr17:48193445C>T	uc002iqf.3	-	4	808	c.509G>A	c.(508-510)cGt>cAt	p.R170H	SAMD14_uc002iqe.3_5'UTR|SAMD14_uc002iqg.3_Missense_Mutation_p.R170H	NM_174920	NP_777580	Q8IZD0	SAM14_HUMAN	Homo sapiens sterile alpha motif domain containing 14 (SAMD14), mRNA.	170										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						ACTGGCGTCACGGCTGTCATC	0.602													13	28					0	0	0.457914	0	0	T	48193445	C	T	48193445	3	4	93	1	0	0	0	0	1	0	0	0	13819	536	19	1	856	1	SAMD14	17	48193445	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08	7133815	48193445	33001765	40	4107											
GPRC5C	55890	broad.mit.edu	37	chr17	72436710	72436710	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggatcgtcatgtatacttaCggcaacaagcagcacaacag	14	8	9	10	2	1	0	1	0	0	0	2	1	1	1	0	2	6	4	0	2	6	3			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr17:72436710C>T	uc002jkp.3	+	1	1441	c.930C>T	c.(928-930)taC>taT	p.Y310Y	GPRC5C_uc002jkq.3_Intron|GPRC5C_uc002jkr.3_Silent_p.Y277Y|GPRC5C_uc002jkt.3_Silent_p.Y265Y|GPRC5C_uc002jku.3_5'Flank	NM_022036	NP_071319	Q9NQ84	GPC5C_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member C (GPRC5C), transcript variant 1, mRNA.	265						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						TGTATACTTACGGCAACAAGC	0.607													11	42					0	0	0.435327	0	0	T	72436710	C	T	72436710	2	4	93	1	0	0	0	0	0	0	0	1	6726	547	19	1		1	GPRC5C	17	72436710	Silent	SNP	C	TCGA-DU-7292-01A-11D-2024-08	24243265	72436710	8758500	41	4108											
ZNF333	84449	broad.mit.edu	37	chr19	14828520	14828520	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagccaagatacttttacagAgatcctgtccattgatgtga	12	13	8	8	0	0	4	0	2	0	2	2	5	2	4	3	0	3	0	3	0	4	5			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr19:14828520A>C	uc002mzn.3	+	10	1009	c.875A>C	c.(874-876)gAg>gCg	p.E292A	ZNF333_uc002mzk.4_Missense_Mutation_p.E183A	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN	Homo sapiens zinc finger protein 333 (ZNF333), mRNA.	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						ACTTTTACAGAGATCCTGTCC	0.418													24	37					0	0	0.667858	0	0	C	14828520	A	C	14828520	3	2	93	1	0	0	0	0	1	0	0	0	17847	304	11	5	913	5	ZNF333	19	14828520	Missense_Mutation	SNP	A	TCGA-DU-7292-01A-11D-2024-08		14828520	44300463	42	4109											
WDR62	284403	broad.mit.edu	37	chr19	36590446	36590447	+	In_Frame_Ins	INS	-	-	GAAGCC																															gattgctactttacccccatINSgaagcccgagagtctggaga																								rs139749569	byFrequency	TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr19:36590446_36590447insGAAGCC	uc002odd.2	+	21	2757_2758	c.2666_2667insGAAGCC	c.(2665-2667)atg>atGAAGCCg	p.891_892insKP	WDR62_uc002odc.2_In_Frame_Ins_p.891_892insKP	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	891					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTTACCCCCATGAAGCCCGAGA	0.634													21	80	---	---	---	---						GAAGCC	36590447	-	GAAGCC	36590446	7	5	93	1	0	1	1	0	0	0	0	0	17310	1464	51	0	2752	0	WDR62	19	36590446	In_Frame_Ins	INS	-	TCGA-DU-7292-01A-11D-2024-08	21761926	36590446	22538537	43	4110											
ARHGAP35	2909	broad.mit.edu	37	chr19	47423551	47423551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaagctccaagcagagcGtgatgcccttattctgaaac	14	8	8	11	1	1	3	0	2	1	1	2	3	2	3	2	0	5	2	2	0	5	2			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr19:47423551G>A	uc010ekv.3	+	0	1619	c.1619G>A	c.(1618-1620)cGt>cAt	p.R540H		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.	540					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CAAGCAGAGCGTGATGCCCTT	0.483													49	100					0	0	0.870114	0	0	A	47423551	G	A	47423551	3	1	93	1	0	0	0	0	1	0	0	0	6795	1145	40	1	1621	1	ARHGAP35	19	47423551	Missense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08	10833105	47423551	11705432	44	4111											
TSKS	60385	broad.mit.edu	37	chr19	50249906	50249906	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggcggcggggcccaggctGttccaggagaggccagcctc	5	5	18	13	2	0	1	0	0	0	1	2	2	1	1	4	7	1	2	4	7	0	1			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr19:50249906G>A	uc002ppm.3	-	5	824	c.813C>T	c.(811-813)aaC>aaT	p.N271N		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	271							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GGCCCAGGCTGTTCCAGGAGA	0.731													3	23					0	0	0.150653	0	0	A	50249906	G	A	50249906	2	1	93	1	0	0	0	0	0	0	0	1	16623	1368	48	3		3	TSKS	19	50249906	Silent	SNP	G	TCGA-DU-7292-01A-11D-2024-08	2826355	50249906	8879077	45	4112											
TGM3	7053	broad.mit.edu	37	chr20	2321165	2321165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaccaagcaactgctcgccGacttctcctgcaacaagttc	10	8	7	16	2	1	0	0	0	1	0	4	1	1	0	3	0	5	5	3	0	4	2	rs140423684		TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr20:2321165G>A	uc002wfx.4	+	12	2117	c.2020G>A	c.(2020-2022)Gac>Aac	p.D674N		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	674				D -> G (in Ref. 2; BAF84040).	cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	ACTGCTCGCCGACTTCTCCTG	0.602													29	64					0	0	0.706142	0	0	A	2321165	G	A	2321165	3	1	93	1	0	0	0	0	1	0	0	0	15828	1058	37	2	2070	2	TGM3	20	2321165	Missense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08		2321165	60704355	46	4113											
EEF1A2	1917	broad.mit.edu	37	chr20	62127281	62127281	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgatgatggtgatgtagtaCttggtggtctcgaacttcca	8	14	12	7	2	1	2	0	2	1	0	4	4	2	2	1	3	2	2	1	3	3	4			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr20:62127281C>G	uc002yfe.1	-	2	418	c.252G>C	c.(250-252)aaG>aaC	p.K84N		NM_001958	NP_001949	Q05639	EF1A2_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA.	84						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TGATGTAGTACTTGGTGGTCT	0.592											OREG0026129	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	87					0	0	0.217242	0	0	G	62127281	C	G	62127281	3	3	93	1	0	0	0	0	1	0	0	0	4924	564	20	5	1163	5	EEF1A2	20	62127281	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08	59806116	62127281	898239	47	4114											
JAM2	58494	broad.mit.edu	37	chr21	27062196	27062196	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaggctattttagcctgcaAaaccccaaagaagactgttt	14	10	8	9	0	0	3	0	0	0	3	0	3	0	3	3	1	3	3	3	1	6	4			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr21:27062196A>G	uc002ylp.1	+	2	697	c.152A>G	c.(151-153)aAa>aGa	p.K51R	JAM2_uc011ace.1_Missense_Mutation_p.K51R|JAM2_uc002ylq.1_Non-coding_Transcript|JAM2_uc011acf.1_Intron	NM_021219	NP_067042	P57087	JAM2_HUMAN	Homo sapiens junctional adhesion molecule 2 (JAM2), mRNA.	51	Ig-like V-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						TTAGCCTGCAAAACCCCAAAG	0.368													42	67					0	0	0.859065	0	0	G	27062196	A	G	27062196	3	3	93	1	0	0	0	0	1	0	0	0	7943	14	1	3	162	3	JAM2	21	27062196	Missense_Mutation	SNP	A	TCGA-DU-7292-01A-11D-2024-08		27062196	21067699	48	4115											
DSCAM	1826	broad.mit.edu	37	chr21	41711192	41711192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgtgatcatctggctgatgCggtgactgccacccttgaga	8	10	12	11	2	2	4	1	4	1	1	2	5	2	4	2	2	2	1	2	2	0	1			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr21:41711192C>T	uc002yyq.1	-	6	1813	c.1361G>A	c.(1360-1362)cGc>cAc	p.R454H	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	454	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTGGCTGATGCGGTGACTGCC	0.602													3	42					0	0	0.115264	0	0	T	41711192	C	T	41711192	3	4	93	1	0	0	0	0	1	0	0	0	4768	768	27	1	4785	1	DSCAM	21	41711192	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08	14648996	41711192	6418703	49	4116											
SLC19A1	6573	broad.mit.edu	37	chr21	46951525	46951525	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagtccccacaggccacccGcagggcgtgtcccagcttcc	6	6	11	18	2	0	1	0	1	0	0	3	1	3	1	6	2	1	2	6	2	0	1			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr21:46951525G>T	uc002zhl.2	-	2	880	c.727C>A	c.(727-729)Cgg>Agg	p.R243R	SLC19A1_uc010gpy.1_Silent_p.R243R|SLC19A1_uc011aft.2_Silent_p.R203R|SLC19A1_uc002zhm.2_Silent_p.R243R|SLC19A1_uc010gpz.2_Silent_p.R122R	NM_194255	NP_919231	P41440	S19A1_HUMAN	Homo sapiens solute carrier family 19 (folate transporter), member 1 (SLC19A1), transcript variant 1, mRNA.	243					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		CAGGCCACCCGCAGGGCGTGT	0.706													22	38					3.7963e-18	4.06365e-18	0.654019	1	0	T	46951525	G	T	46951525	2	4	93	1	0	0	0	0	0	0	0	1	14428	1086	38	5		5	SLC19A1	21	46951525	Silent	SNP	G	TCGA-DU-7292-01A-11D-2024-08	5240333	46951525	1178370	50	4117											
PCNT	5116	broad.mit.edu	37	chr21	47845846	47845846	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccaccccggaaggaagaCgagatacaggacatctcgct	13	4	10	14	3	1	2	0	0	1	2	2	6	1	5	3	3	1	1	3	3	3	1	rs138588682		TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr21:47845846C>T	uc002zji.4	+	32	7388	c.7281C>T	c.(7279-7281)gaC>gaT	p.D2427D	PCNT_uc002zjj.3_Silent_p.D2309D	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	2427					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGAAGGAAGACGAGATACAGG	0.552													21	63					0	0	0.639603	0	0	T	47845846	C	T	47845846	2	4	93	1	0	0	0	0	0	0	0	1	11590	535	19	1		1	PCNT	21	47845846	Silent	SNP	C	TCGA-DU-7292-01A-11D-2024-08	894321	47845846	284049	51	4118											
NF2	4771	broad.mit.edu	37	chr22	30069292	30069292	+	Frame_Shift_Del	DEL	A	A	-																															gacagctgacctgttggctgAaaaggcccagatcaccgagg																										TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr22:30069292delA	uc003age.4	+	11	1600	c.1157delA	c.(1156-1158)gaafs	p.E386fs	NF2_uc003afy.4_Frame_Shift_Del_p.E386fs|NF2_uc003afz.4_Frame_Shift_Del_p.E303fs|NF2_uc003agf.4_Frame_Shift_Del_p.E386fs|NF2_uc003agb.4_Frame_Shift_Del_p.E309fs|NF2_uc003agc.4_Frame_Shift_Del_p.E348fs|NF2_uc003agd.4_Intron|NF2_uc003agg.4_Frame_Shift_Del_p.E386fs|NF2_uc003aga.4_Frame_Shift_Del_p.E344fs|NF2_uc003agh.4_Frame_Shift_Del_p.E345fs|NF2_uc003agi.4_Frame_Shift_Del_p.E303fs|NF2_uc003agj.4_Intron|NF2_uc010gvp.3_Frame_Shift_Del_p.E50fs|NF2_uc011akq.2_Frame_Shift_Del_p.E12fs	NM_000268	NP_000259	P35240	MERL_HUMAN	Homo sapiens neurofibromin 2 (merlin) (NF2), transcript variant 1, mRNA.	386	Glu-rich.				Schwann cell proliferation|actin cytoskeleton organization|negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.L383fs*12(1)|p.M375fs*20(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						CTGTTGGCTGAAAAGGCCCAG	0.587			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2				2	4	---	---	---	---						-	30069292	A	-	30069292	7	5	93	1	0	1	0	1	0	0	0	0	10357	246	9	0	1203	0	NF2	22	30069292	Frame_Shift_Del	DEL	A	TCGA-DU-7292-01A-11D-2024-08		30069292	21235274	52	4119											
FRMPD4	9758	broad.mit.edu	37	chrX	12736404	12736404	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaccgcttcttaactgaCgtgacctgtgcatcttcagc	7	11	11	12	2	3	2	1	2	2	0	3	3	3	3	2	2	3	2	2	2	1	3			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chrX:12736404C>T	uc004cuz.2	+	15	3965	c.3459C>T	c.(3457-3459)gaC>gaT	p.D1153D	FRMPD4_uc011mij.2_Silent_p.D1145D	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	1153					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCTTAACTGACGTGACCTGTG	0.552													84	32					0	0	0.870114	0	0	T	12736404	C	T	12736404	2	4	93	1	0	0	0	0	0	0	0	1	6059	535	19	1		1	FRMPD4	23	12736404	Silent	SNP	C	TCGA-DU-7292-01A-11D-2024-08		12736404	142534156	53	4120											
POF1B	79983	broad.mit.edu	37	chrX	84600916	84600916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagttcatttccaatatGtgtagaaattggattatttc	12	16	7	6	0	1	1	1	0	0	1	3	2	2	2	1	1	0	3	1	1	5	7			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chrX:84600916G>A	uc004eer.2	-	5	819	c.673C>T	c.(673-675)Cat>Tat	p.H225Y	POF1B_uc004ees.3_Missense_Mutation_p.H225Y	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	225							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TTTCCAATATGTGTAGAAATT	0.418													6	70					0	0	0.248553	0	0	A	84600916	G	A	84600916	3	1	93	1	0	0	0	0	1	0	0	0	12182	1377	48	3	1144	3	POF1B	23	84600916	Missense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08	71864512	84600916	70669644	54	4121											
MMEL1	79258	broad.mit.edu	37	chr1	2529663	2529663	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttgcggtagttcactcGtgtgtccttgaatctctggc	5	14	10	12	2	2	1	1	1	1	0	5	1	3	1	2	2	1	2	2	2	2	4			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr1:2529663G>A	uc001ajy.2	-	12	1469	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	419					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		TAGTTCACTCGTGTGTCCTTG	0.582													29	11					0	0	0.000409698	0	0	A	2529663	G	A	2529663	4	1	94	1	0	0	0	0	0	1	0	0	9646	1153	40	1	1132	1	MMEL1	1	2529663	Nonsense_Mutation	SNP	G	TCGA-DU-7294-01A-11D-2024-08		2529663	246720958	1	4122											
TPM3	7170	broad.mit.edu	37	chr1	154145663	154145663	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttttaaggcccggttttcaAtaaccttcatacctctgcca	9	14	5	13	1	3	0	2	0	1	0	3	0	3	0	4	2	3	1	4	2	4	7			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr1:154145663A>G	uc001fec.1	-	3	507	c.392T>C	c.(391-393)aTt>aCt	p.I131T	TPM3_uc001fdx.1_5'Flank|TPM3_uc010pei.1_Missense_Mutation_p.I4T|TPM3_uc001fdy.1_Missense_Mutation_p.I94T|TPM3_uc001fdz.1_Missense_Mutation_p.I94T|TPM3_uc001fea.1_Missense_Mutation_p.I94T|TPM3_uc001feb.1_Missense_Mutation_p.I94T|TPM3_uc010pej.1_Missense_Mutation_p.I27T|TPM3_uc001fed.1_Missense_Mutation_p.I94T	NM_152263	NP_689476	P06753	TPM3_HUMAN	Homo sapiens tropomyosin 3 (TPM3), transcript variant 1, mRNA.	130					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CCGGTTTTCAATAACCTTCAT	0.433			T	"NTRK1, ALK, ROS1"	"papillary thyroid, ALCL, NSCLC"								16	34					0	0	0.000422831	0	0	G	154145663	A	G	154145663	3	3	94	1	0	0	0	0	1	0	0	0	16404	101	4	3	744	3	TPM3	1	154145663	Missense_Mutation	SNP	A	TCGA-DU-7294-01A-11D-2024-08	151616000	154145663	95104958	2	4123											
TMEM131	23505	broad.mit.edu	37	chr2	98377070	98377070	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtacctgtctgagccatcGctgtcaacaggagcgtgtga	8	9	12	12	3	2	2	1	2	1	0	3	3	2	3	3	1	4	2	3	1	2	1			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr2:98377070G>A	uc002syh.4	-	37	5323	c.5094C>T	c.(5092-5094)agC>agT	p.S1698S	TMEM131_uc002syg.3_Silent_p.S78S	NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	1698	Ser-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CTGAGCCATCGCTGTCAACAG	0.478													4	7					0	0	0.00024832	0	0	A	98377070	G	A	98377070	2	1	94	1	0	0	0	0	0	0	0	1	16041	1078	38	1		1	TMEM131	2	98377070	Silent	SNP	G	TCGA-DU-7294-01A-11D-2024-08		98377070	144822303	3	4124											
COBLL1	22837	broad.mit.edu	37	chr2	165579003	165579003	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attttctttctccttcataaTatctaggttttgtgatattt	8	23	4	6	0	4	1	1	1	3	0	5	1	4	1	1	1	0	1	1	1	4	11			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr2:165579003T>C	uc002ucp.3	-	4	913	c.691A>G	c.(691-693)Att>Gtt	p.I231V	COBLL1_uc002ucq.3_Missense_Mutation_p.I231V|COBLL1_uc010zcw.2_Missense_Mutation_p.I297V|COBLL1_uc010zcx.2_Missense_Mutation_p.I277V|COBLL1_uc002ucs.1_Non-coding_Transcript|COBLL1_uc002uco.3_5'UTR	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	269										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TCCTTCATAATATCTAGGTTT	0.313													27	25					0	0	0.000339439	0	0	C	165579003	T	C	165579003	3	2	94	1	0	0	0	0	1	0	0	0	3654	1406	49	3	2849	3	COBLL1	2	165579003	Missense_Mutation	SNP	T	TCGA-DU-7294-01A-11D-2024-08	67201933	165579003	77620370	4	4125											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								35	45					0	0	0.00170553	0	0	T	209113112	C	T	209113112	3	4	94	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7294-01A-11D-2024-08	43534109	209113112	34086261	5	4126											
USP37	57695	broad.mit.edu	37	chr2	219321847	219321847	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctaccaatgtgactgacaAcactgatgagccggtacgaa	13	8	10	10	2	0	4	0	4	0	0	0	5	0	4	2	1	5	2	2	1	5	2			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr2:219321847A>C	uc010fvs.1	-	23	3094	c.2681T>G	c.(2680-2682)gTt>gGt	p.V894G	USP37_uc002vie.2_Missense_Mutation_p.V894G|USP37_uc010zkf.1_Missense_Mutation_p.V894G|USP37_uc002vif.2_Missense_Mutation_p.V894G|USP37_uc002vig.2_Missense_Mutation_p.V800G	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	Homo sapiens ubiquitin specific peptidase 37 (USP37), mRNA.	894					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GTGACTGACAACACTGATGAG	0.363													4	45					0	0	0.00024832	0	0	C	219321847	A	C	219321847	3	2	94	1	0	0	0	0	1	0	0	0	17065	43	2	5	270	5	USP37	2	219321847	Missense_Mutation	SNP	A	TCGA-DU-7294-01A-11D-2024-08	10208735	219321847	23877526	6	4127											
UBE2B	7320	broad.mit.edu	37	chr5	133725924	133725924	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttcctcctagtctctgctGgatgaaccgaatcctaacag	9	12	7	13	1	1	1	0	1	1	0	5	3	4	2	4	1	3	1	4	1	4	3			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr5:133725924G>T	uc003kzh.3	+	5	756	c.339G>T	c.(337-339)ctG>ctT	p.L113L		NM_003337	NP_003328	P63146	UBE2B_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2B (UBE2B), mRNA.	113					canonical Wnt receptor signaling pathway|histone H2A ubiquitination|negative regulation of cAMP-mediated signaling|postreplication repair|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|protein monoubiquitination|protein stabilization|response to UV|response to drug	cytoplasm|plasma membrane|replication fork	ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity			kidney(1)|large_intestine(2)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTCTCTGCTGGATGAACCGA	0.388								Rad6 pathway					4	38					0.000602214	0.00713493	0.000602214	1	0	T	133725924	G	T	133725924	2	4	94	1	0	0	0	0	0	0	0	1	16842	1335	47	5		5	UBE2B	5	133725924	Silent	SNP	G	TCGA-DU-7294-01A-11D-2024-08		133725924	47189336	7	4128											
MAGI2	9863	broad.mit.edu	37	chr7	77998517	77998517	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcatcgattttttcccaGccatatggaagctctgaaaa	12	12	8	9	1	2	1	1	1	1	0	4	4	3	3	2	2	2	1	2	2	4	4			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr7:77998517G>C	uc003ugx.3	-	6	1313	c.1059C>G	c.(1057-1059)ggC>ggG	p.G353G	MAGI2_uc003ugy.3_Silent_p.G353G|MAGI2_uc010ldx.1_5'UTR|MAGI2_uc010ldy.1_5'UTR|MAGI2_uc011kgr.1_Silent_p.G185G|MAGI2_uc011kgs.1_Silent_p.G190G	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	353	Interaction with DDN.|WW 2.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TTTTTTCCCAGCCATATGGAA	0.274													13	38					0	0	0.000219431	0	0	C	77998517	G	C	77998517	2	2	94	1	0	0	0	0	0	0	0	1	9191	958	34	5		5	MAGI2	7	77998517	Silent	SNP	G	TCGA-DU-7294-01A-11D-2024-08		77998517	81140146	8	4129											
PCLO	27445	broad.mit.edu	37	chr7	82583261	82583261	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtgatcaaacacggtttcGgataagctactttttgttcg	9	14	11	7	3	1	1	1	1	0	0	3	2	1	2	0	3	3	3	0	3	3	6			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr7:82583261G>A	uc003uhx.2	-	4	7297	c.7008C>T	c.(7006-7008)tcC>tcT	p.S2336S	PCLO_uc003uhv.2_Silent_p.S2336S|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2267	Poly-Pro.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACACGGTTTCGGATAAGCTAC	0.428													45	49					0	0	0.000509022	0	0	A	82583261	G	A	82583261	2	1	94	1	0	0	0	0	0	0	0	1	11583	1103	39	2		2	PCLO	7	82583261	Silent	SNP	G	TCGA-DU-7294-01A-11D-2024-08	4584744	82583261	76555402	9	4130											
ACN9	57001	broad.mit.edu	37	chr7	96747045	96747045	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggggcgctatgccggggCggcacgtttctcgagtccgg	3	8	18	12	7	1	0	0	0	1	0	3	1	2	0	2	6	1	3	2	6	1	2			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr7:96747045C>A	uc003uoo.4	+	0	1141	c.10C>A	c.(10-12)Cgg>Agg	p.R4R		NM_020186	NP_064571	Q9NRP4	ACN9_HUMAN	Homo sapiens ACN9 homolog (S. cerevisiae) (ACN9), mRNA.	4					regulation of gluconeogenesis	mitochondrial intermembrane space		p.R4Q(1)		large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					TATGCCGGGGCGGCACGTTTC	0.647													24	40					1.74807e-11	2.21558e-10	0.000339439	1	0	A	96747045	C	A	96747045	2	1	94	1	0	0	0	0	0	0	0	1	145	759	27	5		5	ACN9	7	96747045	Silent	SNP	C	TCGA-DU-7294-01A-11D-2024-08	14163784	96747045	62391618	10	4131											
TMEM176A	55365	broad.mit.edu	37	chr7	150500857	150500857	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactggaacactccagccccCactcagagtccagaagaagt	13	5	9	14	0	1	3	1	0	0	3	3	5	3	4	4	1	2	0	4	1	3	0			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr7:150500857C>A	uc003whx.1	+	4	570	c.492C>A	c.(490-492)ccC>ccA	p.P164P	TMEM176B_uc003whw.4_5'Flank	NM_018487	NP_060957	Q96HP8	T176A_HUMAN	Homo sapiens transmembrane protein 176A (TMEM176A), mRNA.	164						integral to membrane		p.A163T(1)		breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCCAGCCCCCACTCAGAGTC	0.537													19	41					3.62473e-10	4.48973e-09	0.00188189	1	0	A	150500857	C	A	150500857	2	1	94	1	0	0	0	0	0	0	0	1	16089	581	21	5		5	TMEM176A	7	150500857	Silent	SNP	C	TCGA-DU-7294-01A-11D-2024-08	53753812	150500857	8637806	11	4132											
RNF32	140545	broad.mit.edu	37	chr7	156447399	156447399	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgtaaagaagaattcgAgcttcgtcctcaggtgttta	11	13	9	8	2	2	2	1	0	1	2	5	3	3	2	1	1	1	3	1	1	5	5			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr7:156447399A>G	uc003wmo.3	+	3	634	c.404A>G	c.(403-405)gAg>gGg	p.E135G	RNF32_uc010lql.1_Non-coding_Transcript|RNF32_uc010lqm.3_Missense_Mutation_p.E135G|RNF32_uc003wmq.3_Missense_Mutation_p.E135G|RNF32_uc003wmr.3_Missense_Mutation_p.E135G|RNF32_uc003wms.3_Missense_Mutation_p.E135G|RNF32_uc003wmu.3_Non-coding_Transcript|RNF32_uc003wmt.3_Missense_Mutation_p.E135G	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	Homo sapiens ring finger protein 32 (RNF32), transcript variant 3, mRNA.	135						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GAAGAATTCGAGCTTCGTCCT	0.542													3	47					0	0	0.000602214	0	0	G	156447399	A	G	156447399	3	3	94	1	0	0	0	0	1	0	0	0	13488	304	11	4	414	4	RNF32	7	156447399	Missense_Mutation	SNP	A	TCGA-DU-7294-01A-11D-2024-08	5946542	156447399	2691264	12	4133											
POP1	10940	broad.mit.edu	37	chr8	99169863	99169863	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggagtagaaaattactgaaGcaactgtcagcctggtgtgg	13	9	13	6	0	1	2	1	1	0	1	1	3	1	3	1	3	4	2	1	3	6	2			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr8:99169863G>A	uc003yij.4	+	15	2539	c.2439G>A	c.(2437-2439)aaG>aaA	p.K813K	POP1_uc011lgv.2_Silent_p.K813K|POP1_uc003yik.3_Silent_p.K813K	NM_001145860	NP_055844	Q99575	POP1_HUMAN	Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA.	813					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	p.L812L(1)		autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AATTACTGAAGCAACTGTCAG	0.488													6	55					0	0	0.000157383	0	0	A	99169863	G	A	99169863	2	1	94	1	0	0	0	0	0	0	0	1	12251	962	34	3		3	POP1	8	99169863	Silent	SNP	G	TCGA-DU-7294-01A-11D-2024-08		99169863	47194159	13	4134											
PSMD5	5711	broad.mit.edu	37	chr9	123586941	123586941	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggactatccatgacagccagGtttccaaaaaacttcacgaa	15	8	7	11	1	1	1	1	1	0	0	3	3	3	2	3	2	2	1	3	2	5	3			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr9:123586941G>T	uc004bko.3	-	6	856	c.837C>A	c.(835-837)aaC>aaA	p.N279K	PSMD5_uc011lye.2_Missense_Mutation_p.N236K	NM_005047	NP_005038	Q16401	PSMD5_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 5 (PSMD5), mRNA.	279					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome complex	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						TGACAGCCAGGTTTCCAAAAA	0.388													26	40					1.5548e-18	2.01754e-17	0.000878237	1	0	T	123586941	G	T	123586941	3	4	94	1	0	0	0	0	1	0	0	0	12701	1252	44	5	693	5	PSMD5	9	123586941	Missense_Mutation	SNP	G	TCGA-DU-7294-01A-11D-2024-08		123586941	17626490	14	4135											
OR52N5	390075	broad.mit.edu	37	chr11	5799221	5799221	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacaaatgtcaaacactccaAtcaggagagcaaccattaga	19	6	6	10	0	2	2	2	0	0	2	3	3	3	2	2	1	4	1	2	1	6	1			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr11:5799221A>G	uc010qzn.2	-	0	677	c.644T>C	c.(643-645)aTt>aCt	p.I215T	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 5 (OR52N5), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AAACACTCCAATCAGGAGAGC	0.438													15	57					0	0	0.000219431	0	0	G	5799221	A	G	5799221	3	3	94	1	0	0	0	0	1	0	0	0	11130	101	4	3	334	3	OR52N5	11	5799221	Missense_Mutation	SNP	A	TCGA-DU-7294-01A-11D-2024-08		5799221	129207295	15	4136											
TRPC6	7225	broad.mit.edu	37	chr11	101323746	101323746	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctctccaagttctctaatAagttctgctaggtcttctgt	7	18	6	10	0	5	0	0	0	5	0	8	0	6	0	1	1	1	3	1	1	4	7			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr11:101323746A>G	uc001pgk.4	-	12	3161	c.2736T>C	c.(2734-2736)ctT>ctC	p.L912L	TRPC6_uc009ywy.3_Silent_p.L796L	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	912					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GTTCTCTAATAAGTTCTGCTA	0.368													47	87					0	0	0.000781405	0	0	G	101323746	A	G	101323746	2	3	94	1	0	0	0	0	0	0	0	1	16580	349	13	3		3	TRPC6	11	101323746	Silent	SNP	A	TCGA-DU-7294-01A-11D-2024-08	95524525	101323746	33682770	16	4137											
GRIK4	2900	broad.mit.edu	37	chr11	120732708	120732708	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagccttgtggatgatcGtgtcaacatcctgggatttt	8	13	12	8	1	1	1	1	1	0	0	3	4	2	4	2	3	2	0	2	3	1	3	rs137906208	by1000genomes	TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr11:120732708G>T	uc001pxn.2	+	8	1072	c.785G>T	c.(784-786)cGt>cTt	p.R262L	GRIK4_uc009zav.1_Missense_Mutation_p.R262L|GRIK4_uc009zaw.1_Missense_Mutation_p.R262L|GRIK4_uc009zax.1_Missense_Mutation_p.R262L	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	262					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GTGGATGATCGTGTCAACATC	0.483													72	81					1.42382e-21	1.89264e-20	0.000781405	1	0	T	120732708	G	T	120732708	3	4	94	1	0	0	0	0	1	0	0	0	6776	1145	40	5	811	5	GRIK4	11	120732708	Missense_Mutation	SNP	G	TCGA-DU-7294-01A-11D-2024-08	19408962	120732708	14273808	17	4138											
CLEC7A	64581	broad.mit.edu	37	chr12	10277909	10277909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacttaccaattcatttgagCtgtctatctttaggagatta	11	16	6	8	0	3	2	1	1	2	1	3	3	3	2	1	1	2	1	1	1	5	7			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr12:10277909C>T	uc001qxg.2	-	3	666	c.479G>A	c.(478-480)aGc>aAc	p.S160N	CLEC7A_uc001qxe.3_Non-coding_Transcript|CLEC7A_uc001qxf.2_Missense_Mutation_p.S114N|CLEC7A_uc001qxh.2_Missense_Mutation_p.S114N|CLEC7A_uc001qxi.2_Missense_Mutation_p.S160N|CLEC7A_uc001qxj.2_Missense_Mutation_p.S81N|CLEC7A_uc001qxk.1_Non-coding_Transcript|CLEC7A_uc009zhg.1_Intron|CLEC7A_uc021quz.1_Missense_Mutation_p.S114N|CLEC7A_uc021qva.1_Missense_Mutation_p.S114N	NM_197947	NP_922938	Q9BXN2	CLC7A_HUMAN	Homo sapiens C-type lectin domain family 7, member A (CLEC7A), transcript variant 1, mRNA.	160	C-type lectin.				T cell activation|carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition	cytoplasm|integral to membrane	MHC protein binding|metal ion binding|sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						TTCATTTGAGCTGTCTATCTT	0.388													11	70					0	0	0.00136819	0	0	T	10277909	C	T	10277909	3	4	94	1	0	0	0	0	1	0	0	0	3521	797	28	3	276	3	CLEC7A	12	10277909	Missense_Mutation	SNP	C	TCGA-DU-7294-01A-11D-2024-08		10277909	123573986	18	4139											
SH2B3	10019	broad.mit.edu	37	chr12	111885211	111885211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgctacccctggttccacGgccccatctccagagtgaaa	8	8	8	17	1	1	2	0	1	1	1	3	2	2	2	7	2	2	2	7	2	2	2			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr12:111885211G>A	uc001tsf.3	+	4	1129	c.1102G>A	c.(1102-1104)Ggc>Agc	p.G368S	SH2B3_uc001tse.3_Missense_Mutation_p.G367S|SH2B3_uc010syf.2_Missense_Mutation_p.G367S|SH2B3_uc010syg.2_Missense_Mutation_p.G165S	NM_005475	NP_005466	Q9UQQ2	SH2B3_HUMAN	Homo sapiens SH2B adaptor protein 3 (SH2B3), mRNA.	367	SH2.				blood coagulation	cytosol	signal transducer activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						CTGGTTCCACGGCCCCATCTC	0.622													23	52					0	0	0.000295444	0	0	A	111885211	G	A	111885211	3	1	94	1	0	0	0	0	1	0	0	0	14229	1116	39	2	1117	2	SH2B3	12	111885211	Missense_Mutation	SNP	G	TCGA-DU-7294-01A-11D-2024-08	101607302	111885211	21966684	19	4140											
C15orf2	23742	broad.mit.edu	37	chr15	24924397	24924397	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcatcctgcagcacacatGgacagagagaaaattctaca	15	7	9	10	0	1	2	0	0	1	2	2	4	2	3	1	1	4	3	1	1	3	2			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr15:24924397G>C	uc001ywo.3	+	0	3857	c.3383G>C	c.(3382-3384)tGg>tCg	p.W1128S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	1128					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CAGCACACATGGACAGAGAGA	0.478													44	77					0	0	0.000781405	0	0	C	24924397	G	C	24924397	3	2	94	1	0	0	0	0	1	0	0	0	1784	1357	47	5	3385	5	C15orf2	15	24924397	Missense_Mutation	SNP	G	TCGA-DU-7294-01A-11D-2024-08		24924397	77606995	20	4141											
EXD1	161829	broad.mit.edu	37	chr15	41476577	41476577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcttgagatgtaaaacttGgagctttatctatcctaaaa	14	14	7	6	0	2	1	0	1	2	1	3	3	3	2	1	1	2	2	1	1	6	7			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr15:41476577G>A	uc010ucv.2	-	11	1543	c.1271C>T	c.(1270-1272)cCa>cTa	p.P424L	EXD1_uc001znj.3_Missense_Mutation_p.P164L|EXD1_uc001znk.3_Missense_Mutation_p.P366L	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	366					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TGTAAAACTTGGAGCTTTATC	0.378													51	87					0	0	0.000781405	0	0	A	41476577	G	A	41476577	3	1	94	1	0	0	0	0	1	0	0	0	5297	1348	47	3	451	3	EXD1	15	41476577	Missense_Mutation	SNP	G	TCGA-DU-7294-01A-11D-2024-08	16552180	41476577	61054815	21	4142											
CAPNS2	84290	broad.mit.edu	37	chr16	55600782	55600782	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaggaagaaatattggAgggatagttggaggaattgt	14	9	18	0	0	0	1	0	0	0	1	0	8	0	8	0	7	0	1	0	7	5	5			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr16:55600782A>G	uc002eid.1	+	0	199	c.114A>G	c.(112-114)ggA>ggG	p.G38G	LPCAT2_uc002eie.4_Intron|LPCAT2_uc002eic.3_Intron	NM_032330	NP_115706	Q96L46	CPNS2_HUMAN	Homo sapiens calpain, small subunit 2 (CAPNS2), mRNA.	38	Gly-rich.					cytoplasm|plasma membrane	calcium ion binding			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						GAAATATTGGAGGGATAGTTG	0.507													3	28					0	0	0.00024832	0	0	G	55600782	A	G	55600782	2	3	94	1	0	0	0	0	0	0	0	1	2634	291	11	4		4	CAPNS2	16	55600782	Silent	SNP	A	TCGA-DU-7294-01A-11D-2024-08		55600782	34753971	22	4143											
TMCO7	79613	broad.mit.edu	37	chr16	68894132	68894132	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacagaagactgtccagtTcgttttgcagtttgtagtta	11	14	9	7	1	0	2	0	0	0	2	2	2	1	2	1	0	2	6	1	0	4	6			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr16:68894132T>C	uc002ewi.4	+	1	452	c.440T>C	c.(439-441)tTc>tCc	p.F147S	TMCO7_uc002ewh.3_Missense_Mutation_p.F147S	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	Homo sapiens transmembrane and coiled-coil domains 7 (TMCO7), mRNA.	147						integral to membrane	binding			endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|prostate(2)	20		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		ACTGTCCAGTTCGTTTTGCAG	0.483													70	91					0	0	0.000781405	0	0	C	68894132	T	C	68894132	3	2	94	1	0	0	0	0	1	0	0	0	15998	1783	62	3	446	3	TMCO7	16	68894132	Missense_Mutation	SNP	T	TCGA-DU-7294-01A-11D-2024-08	13293350	68894132	21460621	23	4144											
FOXJ1	2302	broad.mit.edu	37	chr17	74136327	74136327	+	Frame_Shift_Del	DEL	G	G	-																															gtgccccccgggggcagggcGggggccttggcgttgagaat																										TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr17:74136327delG	uc002jqx.3	-	1	505	c.150delC	c.(148-150)cccfs	p.P50fs	LOC100507218_uc002jqy.2_5'Flank	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	Homo sapiens forkhead box J1 (FOXJ1), mRNA.	50					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			GGGGCAGGGCGGGGGCCTTGG	0.756													2	4	---	---	---	---						-	74136327	G	-	74136327	7	5	94	1	0	1	0	1	0	0	0	0	6011	1103	39	0	1123	0	FOXJ1	17	74136327	Frame_Shift_Del	DEL	G	TCGA-DU-7294-01A-11D-2024-08		74136327	7058883	24	4145											
CABLES1	91768	broad.mit.edu	37	chr18	20837289	20837289	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctccacttgcccgagcaCgaagtcatgccccactacag	9	6	8	18	2	1	0	1	0	0	0	2	2	2	0	5	0	4	1	5	0	2	2			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr18:20837289C>T	uc002kuc.2	+	9	1860	c.1860C>T	c.(1858-1860)caC>caT	p.H620H	TMEM241_uc010xaq.2_Intron|CABLES1_uc002kub.2_Silent_p.H123H|CABLES1_uc002kud.2_Silent_p.H355H	NM_001100619	NP_001094089	Q8TDN4	CABL1_HUMAN	Homo sapiens Cdk5 and Abl enzyme substrate 1 (CABLES1), transcript variant 2, mRNA.	620					blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGCCCGAGCACGAAGTCATGC	0.557													8	36					0	0	0.000442599	0	0	T	20837289	C	T	20837289	2	4	94	1	0	0	0	0	0	0	0	1	2529	535	19	1		1	CABLES1	18	20837289	Silent	SNP	C	TCGA-DU-7294-01A-11D-2024-08		20837289	57239959	25	4146											
SMARCA4	6597	broad.mit.edu	37	chr19	11141525	11141525	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcggcctgaacctccagtcgGcagacactgtgatcattttt	8	12	9	12	2	1	3	1	2	0	1	4	3	2	3	3	2	1	1	3	2	1	2			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr19:11141525G>C	uc010dxp.3	+	25	3862	c.3502G>C	c.(3502-3504)Gca>Cca	p.A1168P	SMARCA4_uc010dxo.3_Missense_Mutation_p.A1168P|SMARCA4_uc002mqf.4_Missense_Mutation_p.A1168P|SMARCA4_uc002mqg.1_Missense_Mutation_p.A1168P|SMARCA4_uc010dxq.3_Missense_Mutation_p.A1168P|SMARCA4_uc010dxr.3_Missense_Mutation_p.A1168P|SMARCA4_uc002mqj.4_Missense_Mutation_p.A1168P|SMARCA4_uc010dxs.3_Missense_Mutation_p.A1168P|SMARCA4_uc010dxt.1_Missense_Mutation_p.A388P|SMARCA4_uc002mqh.4_Missense_Mutation_p.A291P|SMARCA4_uc002mqi.1_Missense_Mutation_p.A371P	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	1168	Helicase C-terminal.				chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCTCCAGTCGGCAGACACTGT	0.607			"F, N, Mis"		NSCLC								3	8					0	0	6.4e-05	0	0	C	11141525	G	C	11141525	3	2	94	1	0	0	0	0	1	0	0	0	14770	1203	42	5	3596	5	SMARCA4	19	11141525	Missense_Mutation	SNP	G	TCGA-DU-7294-01A-11D-2024-08		11141525	47987458	26	4147											
CD22	933	broad.mit.edu	37	chr19	35832001	35832001	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcctgcgcagcttgtaatagTtggtgctcgtgggcctcccc	4	11	13	13	2	0	0	0	0	0	0	2	0	1	0	4	2	3	5	4	2	2	4			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr19:35832001T>C	uc010edt.3	+	6	1551	c.1467T>C	c.(1465-1467)agT>agC	p.S489S	CD22_uc010edu.3_Silent_p.S401S|CD22_uc010edv.3_Silent_p.S489S|CD22_uc002nzb.4_Silent_p.S312S|CD22_uc010xst.2_Silent_p.S317S|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	489	Ig-like C2-type 4.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CTTGTAATAGTTGGTGCTCGT	0.622													4	40					0	0	0.00024832	0	0	C	35832001	T	C	35832001	2	2	94	1	0	0	0	0	0	0	0	1	2985	1722	60	3		3	CD22	19	35832001	Silent	SNP	T	TCGA-DU-7294-01A-11D-2024-08	24690476	35832001	23296982	27	4148											
CIC	23152	broad.mit.edu	37	chr19	42791815	42791815	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggaccgtcagcaagatccTgggcgagtggtggtatgccc	7	7	15	12	3	1	1	1	0	0	1	2	3	2	2	4	4	2	2	4	4	2	1			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr19:42791815T>A	uc002otf.1	+	4	741	c.701T>A	c.(700-702)cTg>cAg	p.L234Q		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.I233_L234>M(2)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGCAAGATCCTGGGCGAGTGG	0.617			"Mis, F, S"		oligodendroglioma								20	10					0	0	0.000295444	0	0	A	42791815	T	A	42791815	3	1	94	1	0	0	0	0	1	0	0	0	3424	1580	55	5	719	5	CIC	19	42791815	Missense_Mutation	SNP	T	TCGA-DU-7294-01A-11D-2024-08	6959814	42791815	16337168	28	4149											
DMPK	1760	broad.mit.edu	37	chr19	46275947	46275947	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggctgggcgcttgcacGtgtggctcaagcagctgctc	5	9	14	13	2	1	0	1	0	0	0	3	0	2	0	1	3	4	7	1	3	1	1			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr19:46275947G>A	uc002pdi.1	-	10	1560	c.1374C>T	c.(1372-1374)caC>caT	p.H458H	DMPK_uc021uwb.1_5'Flank|DMPK_uc010xxs.1_Silent_p.H343H|DMPK_uc002pdd.1_Silent_p.H442H|DMPK_uc002pde.1_Silent_p.H437H|DMPK_uc002pdg.1_Silent_p.H427H|DMPK_uc002pdf.1_Silent_p.H432H|DMPK_uc002pdh.1_Silent_p.H427H|DMPK_uc010xxt.1_Silent_p.H427H	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.	442					regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GCGCTTGCACGTGTGGCTCAA	0.632													17	3					0	0	0.00188189	0	0	A	46275947	G	A	46275947	2	1	94	1	0	0	0	0	0	0	0	1	4584	1136	40	1		1	DMPK	19	46275947	Silent	SNP	G	TCGA-DU-7294-01A-11D-2024-08	3484132	46275947	12853036	29	4150											
GGT7	2686	broad.mit.edu	37	chr20	33439058	33439058	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggccgctgaggccccgCgcagctccattggcccccag	5	5	13	18	3	1	1	1	1	0	0	2	1	2	1	6	3	1	3	6	3	0	1			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr20:33439058C>T	uc002xay.3	-	12	1744	c.1701G>A	c.(1699-1701)gcG>gcA	p.A567A	GGT7_uc010gex.3_Non-coding_Transcript|GGT7_uc002xaz.1_Silent_p.A584A	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN	Homo sapiens gamma-glutamyltransferase 7 (GGT7), mRNA.	567					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TGAGGCCCCGCGCAGCTCCAT	0.637													10	29					0	0	0.000978159	0	0	T	33439058	C	T	33439058	2	4	94	1	0	0	0	0	0	0	0	1	6364	755	27	1		1	GGT7	20	33439058	Silent	SNP	C	TCGA-DU-7294-01A-11D-2024-08		33439058	29586462	30	4151											
WFDC9	259240	broad.mit.edu	37	chr20	44237304	44237304	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaccccaaccaactcactcGttgtctaagcagatgtttcc	10	10	5	16	1	2	1	1	0	1	1	4	1	3	1	5	0	3	3	5	0	3	3			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr20:44237304G>A	uc002xoy.3	-	3	455	c.237C>T	c.(235-237)aaC>aaT	p.N79N		NM_147198	NP_671731	Q8NEX5	WFDC9_HUMAN	Homo sapiens WAP four-disulfide core domain 9 (WFDC9), mRNA.	79						extracellular region				breast(1)|large_intestine(1)|liver(1)|lung(1)|prostate(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				CAACTCACTCGTTGTCTAAGC	0.463													10	85					0	0	0.000673444	0	0	A	44237304	G	A	44237304	2	1	94	1	0	0	0	0	0	0	0	1	17354	1136	40	1		1	WFDC9	20	44237304	Silent	SNP	G	TCGA-DU-7294-01A-11D-2024-08	10798246	44237304	18788216	31	4152											
CARD10	29775	broad.mit.edu	37	chr22	37900249	37900249	+	Frame_Shift_Del	DEL	G	G	-																															cggaggatggagccggcactGggggggaagggcaggatgga																										TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr22:37900249delG	uc003asx.1	-	8	1595	c.1578delC	c.(1576-1578)cccfs	p.P526fs	CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asw.1_Frame_Shift_Del_p.P240fs|CARD10_uc003asy.1_Frame_Shift_Del_p.P526fs	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.	526					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					AGCCGGCACTGGGGGGGAAGG	0.642													2	4	---	---	---	---						-	37900249	G	-	37900249	7	5	94	1	0	1	0	1	0	0	0	0	2644	1335	47	0	1568	0	CARD10	22	37900249	Frame_Shift_Del	DEL	G	TCGA-DU-7294-01A-11D-2024-08		37900249	13404317	32	4153											
TLR7	51284	broad.mit.edu	37	chrX	12904193	12904193	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgttattatcgaaatccttGttatgtttcatattcaatag	11	19	5	6	1	2	0	2	0	0	0	4	1	3	0	1	0	0	3	1	0	7	8			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chrX:12904193G>C	uc004cvc.3	+	2	705	c.566G>C	c.(565-567)tGt>tCt	p.C189S		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	189					I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	CGAAATCCTTGTTATGTTTCA	0.383													27	47					0	0	0.00106085	0	0	C	12904193	G	C	12904193	3	2	94	1	0	0	0	0	1	0	0	0	15953	1377	48	5	572	5	TLR7	23	12904193	Missense_Mutation	SNP	G	TCGA-DU-7294-01A-11D-2024-08		12904193	142366367	33	4154											
ZNF157	7712	broad.mit.edu	37	chrX	47269681	47269681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgttattacaggggtccGtgtcattcgaggatgtggct	7	14	14	6	2	1	0	1	0	0	0	3	3	2	1	1	4	1	2	1	4	2	4			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chrX:47269681G>A	uc004dhr.1	+	1	148	c.79G>A	c.(79-81)Gtg>Atg	p.V27M		NM_003446	NP_003437	P51786	ZN157_HUMAN	Homo sapiens zinc finger protein 157 (ZNF157), mRNA.	27	KRAB.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						ACAGGGGTCCGTGTCATTCGA	0.483													9	81					0	0	0.000673444	0	0	A	47269681	G	A	47269681	3	1	94	1	0	0	0	0	1	0	0	0	17734	1145	40	1	85	1	ZNF157	23	47269681	Missense_Mutation	SNP	G	TCGA-DU-7294-01A-11D-2024-08	34365488	47269681	108000879	34	4155											
MAGEE2	139599	broad.mit.edu	37	chrX	75004654	75004654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaccctgagcgcccccaaaCgtctggactgctcgtcgatc	7	7	11	16	4	1	1	0	1	1	0	4	4	1	3	3	2	3	1	3	2	1	0			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chrX:75004654C>T	uc004ecj.2	-	0	426	c.233G>A	c.(232-234)cGt>cAt	p.R78H		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	78										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGCCCCCAAACGTCTGGACTG	0.557													12	35					0	0	0.00136819	0	0	T	75004654	C	T	75004654	3	4	94	1	0	0	0	0	1	0	0	0	9186	536	19	1	1342	1	MAGEE2	23	75004654	Missense_Mutation	SNP	C	TCGA-DU-7294-01A-11D-2024-08	27734973	75004654	80265906	35	4156											
HDX	139324	broad.mit.edu	37	chrX	83616611	83616611	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggtcactgaactgagtgcGgtcctgtagctgaaaaacac	11	9	11	10	2	1	3	1	3	0	0	3	3	2	3	1	2	4	2	1	2	4	1			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chrX:83616611G>T	uc011mqv.2	-	5	1562	c.1315C>A	c.(1315-1317)Cgc>Agc	p.R439S	HDX_uc004eel.2_Missense_Mutation_p.R381S|HDX_uc004eek.2_Missense_Mutation_p.R439S	NM_001177479	NP_001170949	Q7Z353	HDX_HUMAN	Homo sapiens highly divergent homeobox (HDX), transcript variant 1, mRNA.	439						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AACTGAGTGCGGTCCTGTAGC	0.378													14	19					1.05317e-09	1.27551e-08	0.000219431	1	0	T	83616611	G	T	83616611	3	4	94	1	0	0	0	0	1	0	0	0	7026	1116	39	5	781	5	HDX	23	83616611	Missense_Mutation	SNP	G	TCGA-DU-7294-01A-11D-2024-08	8611957	83616611	71653949	36	4157											
CROCC	9696	broad.mit.edu	37	chr1	17250936	17250936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccagagccgtgccgagcgcGatgagctcgccattaagtac	9	6	12	14	5	0	2	0	1	0	1	1	4	0	2	4	0	5	2	4	0	2	2			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr1:17250936G>A	uc001azt.2	+	2	382	c.313G>A	c.(313-315)Gat>Aat	p.D105N	CROCC_uc009voy.1_Intron|CROCC_uc009voz.1_Intron	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	105					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TGCCGAGCGCGATGAGCTCGC	0.652													9	23					0	0	0.006214	0	0	A	17250936	G	A	17250936	3	1	95	1	0	0	0	0	1	0	0	0	3893	1058	37	2	323	2	CROCC	1	17250936	Missense_Mutation	SNP	G	TCGA-DU-7298-01A-11D-2024-08		17250936	231999685	1	4158											
AIM1L	55057	broad.mit.edu	37	chr1	26650673	26650673	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcagcccatcctcgtagtaCcagatgcagctacctccagc	10	7	8	16	1	0	1	0	0	0	1	3	1	2	1	5	0	7	5	5	0	3	3			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr1:26650673C>T	uc001bmd.4	-	17	4857	c.4707G>A	c.(4705-4707)tgG>tgA	p.W1569*		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	524							sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CCTCGTAGTACCAGATGCAGC	0.622													18	45					0	0	0.016522	0	0	T	26650673	C	T	26650673	4	4	95	1	0	0	0	0	0	1	0	0	431	508	18	3	290	3	AIM1L	1	26650673	Nonsense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08	9399737	26650673	222599948	2	4159											
SLC5A9	200010	broad.mit.edu	37	chr1	48703490	48703490	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaccgctctcttcctgctgGccatcttctgcaagagggtc	5	12	9	15	1	4	1	1	0	3	1	7	1	5	1	3	2	2	3	3	2	1	2			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr1:48703490G>C	uc001crn.2	+	11	1559	c.1507G>C	c.(1507-1509)Gcc>Ccc	p.A503P	SLC5A9_uc010oms.1_Non-coding_Transcript|SLC5A9_uc001cro.2_Missense_Mutation_p.A478P|SLC5A9_uc010omt.1_Missense_Mutation_p.A492P|SLC5A9_uc001crp.2_Missense_Mutation_p.A145P|SLC5A9_uc010omu.1_Missense_Mutation_p.A145P|SLC5A9_uc009vyt.1_5'Flank	NM_001135181	NP_001128653	Q2M3M2	SC5A9_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 9 (SLC5A9), transcript variant 1, mRNA.	478						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CTTCCTGCTGGCCATCTTCTG	0.572													6	37					0	0	0.001168	0	0	C	48703490	G	C	48703490	3	2	95	1	0	0	0	0	1	0	0	0	14672	1203	42	5	1553	5	SLC5A9	1	48703490	Missense_Mutation	SNP	G	TCGA-DU-7298-01A-11D-2024-08	22052817	48703490	200547131	3	4160											
TYW3	127253	broad.mit.edu	37	chr1	75204387	75204387	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatttagattgtagctctgaAgaaagcaaatggtgatgcca	14	12	10	5	0	1	4	0	2	1	2	1	4	1	4	1	1	3	3	1	1	6	5			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr1:75204387A>G	uc001dgn.3	+	2	362	c.269A>G	c.(268-270)aAg>aGg	p.K90R	TYW3_uc010oqw.2_Intron|TYW3_uc010oqx.2_Intron|TYW3_uc010oqy.2_Non-coding_Transcript	NM_138467	NP_612476	Q6IPR3	TYW3_HUMAN	Homo sapiens tRNA-yW synthesizing protein 3 homolog (S. cerevisiae) (TYW3), transcript variant 1, mRNA.	90					tRNA processing		methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						GTAGCTCTGAAGAAAGCAAAT	0.383													15	18					0	0	0.00499	0	0	G	75204387	A	G	75204387	3	3	95	1	0	0	0	0	1	0	0	0	16817	72	3	4	279	4	TYW3	1	75204387	Missense_Mutation	SNP	A	TCGA-DU-7298-01A-11D-2024-08	26500897	75204387	174046234	4	4161											
USH2A	7399	broad.mit.edu	37	chr1	216496989	216496989	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggacgataatttggtccAggtgtcaggatgctaaatgt	11	11	12	7	1	1	0	1	0	0	0	2	3	2	2	2	4	1	1	2	4	3	3			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr1:216496989A>C	uc001hku.1	-	7	1764	c.1377T>G	c.(1375-1377)ccT>ccG	p.P459P	USH2A_uc001hkv.3_Silent_p.P459P	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	459	Laminin N-terminal.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AATTTGGTCCAGGTGTCAGGA	0.373										HNSCC(13;0.011)			35	93					0	0	0.011902	0	0	C	216496989	A	C	216496989	2	2	95	1	0	0	0	0	0	0	0	1	17033	175	7	5		5	USH2A	1	216496989	Silent	SNP	A	TCGA-DU-7298-01A-11D-2024-08	141292602	216496989	32753632	5	4162											
CAD	790	broad.mit.edu	37	chr2	27456961	27456961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagaatgcaggtgtgcattCaggtgatgcgacgctggtga	9	9	17	6	2	1	3	1	2	0	1	1	5	1	3	0	4	3	3	0	4	1	1			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr2:27456961C>T	uc002rji.3	+	21	3647	c.3485C>T	c.(3484-3486)tCa>tTa	p.S1162L	CAD_uc010eyw.3_Missense_Mutation_p.S1099L	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	1162	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GGTGTGCATTCAGGTGATGCG	0.587													25	27					0	0	0.01892	0	0	T	27456961	C	T	27456961	3	4	95	1	0	0	0	0	1	0	0	0	2565	838	29	3	3571	3	CAD	2	27456961	Missense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08		27456961	215742412	6	4163											
XDH	7498	broad.mit.edu	37	chr2	31588394	31588394	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcacggtccagcatgcatcGcacagggcggccggtcctgg	7	6	14	14	4	1	0	1	0	0	0	4	0	3	0	3	5	2	3	3	5	0	0			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr2:31588394G>A	uc002rnv.1	-	22	2552	c.2473C>T	c.(2473-2475)Cga>Tga	p.R825*		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	825					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.R825*(2)|p.R825Q(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AGCATGCATCGCACAGGGCGG	0.572													39	98					0	0	0.009718	0	0	A	31588394	G	A	31588394	4	1	95	1	0	0	0	0	0	1	0	0	17423	1095	38	1	1584	1	XDH	2	31588394	Nonsense_Mutation	SNP	G	TCGA-DU-7298-01A-11D-2024-08	4131433	31588394	211610979	7	4164											
POTEE	445582	broad.mit.edu	37	chr2	132021756	132021756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccgagcgggaaatcgtgCgtgacatcaaagagaagctg	12	6	15	8	4	1	2	1	1	0	1	2	5	1	3	1	2	3	1	1	2	3	0			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr2:132021756C>T	uc002tsn.2	+	14	2780	c.2728C>T	c.(2728-2730)Cgt>Tgt	p.R910C	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.R510C|POTEE_uc002tsl.2_Missense_Mutation_p.R492C|POTEE_uc010fmy.1_Missense_Mutation_p.R374C	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	910	Actin-like.						ATP binding	p.R910G(1)									GGAAATCGTGCGTGACATCAA	0.602													14	161					0	0	0.016522	0	0	T	132021756	C	T	132021756	3	4	95	1	0	0	0	0	1	0	0	0	12264	768	27	1	2786	1	POTEE	2	132021756	Missense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08	100433362	132021756	111177617	8	4165											
ZEB2	9839	broad.mit.edu	37	chr2	145157730	145157730	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatattgtttctcattcggcCatttacagagattaaaccaa	13	14	6	8	1	1	1	1	0	1	1	3	3	1	1	2	1	2	1	2	1	5	7			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr2:145157730C>G	uc002tvu.3	-	7	1546	c.1024G>C	c.(1024-1026)Ggc>Cgc	p.G342R	ZEB2_uc010zbm.2_Missense_Mutation_p.G318R|ZEB2_uc002tvv.3_Missense_Mutation_p.G336R|ZEB2_uc010fnp.3_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.G371R	NM_014795	NP_055610	O60315	ZEB2_HUMAN	Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA.	342						cytoplasm|nucleolus	SMAD binding|phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTCATTCGGCCATTTACAGAG	0.413													7	35					0	0	0.001984	0	0	G	145157730	C	G	145157730	3	3	95	1	0	0	0	0	1	0	0	0	17621	594	21	5	2632	5	ZEB2	2	145157730	Missense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08	13135974	145157730	98041643	9	4166											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								18	48					0	0	0.012319	0	0	T	209113112	C	T	209113112	3	4	95	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08	63955382	209113112	34086261	10	4167											
CNOT10	25904	broad.mit.edu	37	chr3	32754815	32754815	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcttcttgctgtcctagAaaaaatgatttcacagggta	12	13	8	8	0	3	2	1	1	2	1	4	2	4	2	1	1	1	3	1	1	5	5			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr3:32754815A>G	uc011axj.1	+	4	784	c.707A>G	c.(706-708)gAa>gGa	p.E236G	CNOT10_uc011axi.1_Intron|CNOT10_uc003cfc.1_Missense_Mutation_p.E176G|CNOT10_uc003cfd.1_Missense_Mutation_p.E175G|CNOT10_uc003cfe.1_Missense_Mutation_p.E176G|CNOT10_uc010hfv.1_Non-coding_Transcript|CNOT10_uc010hfw.1_5'UTR	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 10 (CNOT10), mRNA.	176					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						GCTGTCCTAGAAAAAATGATT	0.348													23	51					0	0	0.005443	0	0	G	32754815	A	G	32754815	3	3	95	1	0	0	0	0	1	0	0	0	3618	246	9	3	545	3	CNOT10	3	32754815	Missense_Mutation	SNP	A	TCGA-DU-7298-01A-11D-2024-08		32754815	165267615	11	4168											
OR5K2	402135	broad.mit.edu	37	chr3	98217294	98217294	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctatggatctattttttTcctatacattagaccaaatt	12	19	3	7	0	2	1	0	0	2	1	3	2	3	2	2	1	1	0	2	1	6	10			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr3:98217294T>C	uc011bgx.2	+	0	770	c.770T>C	c.(769-771)tTc>tCc	p.F257S		NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 2 (OR5K2), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TCTATTTTTTTCCTATACATT	0.333													14	40					0	0	0.020292	0	0	C	98217294	T	C	98217294	3	2	95	1	0	0	0	0	1	0	0	0	11167	1783	62	3	772	3	OR5K2	3	98217294	Missense_Mutation	SNP	T	TCGA-DU-7298-01A-11D-2024-08	65462479	98217294	99805136	12	4169											
NFKBIZ	64332	broad.mit.edu	37	chr3	101572700	101572700	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctttcaaaggatgcagatGgtgacacgtgagtattcttt	10	15	10	6	1	3	3	1	2	2	1	3	4	3	4	0	2	1	2	0	2	2	5			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr3:101572700G>T	uc003dvp.3	+	4	1445	c.1330G>T	c.(1330-1332)Ggt>Tgt	p.G444C	NFKBIZ_uc003dvo.3_Missense_Mutation_p.G344C|NFKBIZ_uc010hpo.3_Missense_Mutation_p.G344C|NFKBIZ_uc003dvq.3_Missense_Mutation_p.G322C	NM_031419	NP_001005474	Q9BYH8	IKBZ_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta (NFKBIZ), transcript variant 1, mRNA.	444	Interaction with NFKB1/p50 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						GGATGCAGATGGTGACACGTG	0.388													15	61					7.93312e-07	2.83567e-06	0.020292	1	0	T	101572700	G	T	101572700	3	4	95	1	0	0	0	0	1	0	0	0	10383	1348	47	5	1348	5	NFKBIZ	3	101572700	Missense_Mutation	SNP	G	TCGA-DU-7298-01A-11D-2024-08	3355406	101572700	96449730	13	4170											
PIK3CA	5290	broad.mit.edu	37	chr3	178936092	178936092	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctctctgaaatcactgAgcaggagaaagattttctat	12	13	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs121913274		TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr3:178936092A>C	uc003fjk.3	+	9	1791	c.1634A>C	c.(1633-1635)gAg>gCg	p.E545A		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(1071)|p.E545A(192)|p.E545G(157)|p.E545D(23)|p.E545Q(21)|p.E545?(19)|p.E545V(10)|p.(542_545)E>K(4)|p.T544N(3)|p.T544I(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAAATCACTGAGCAGGAGAAA	0.353	E545A(AGS_STOMACH)|E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			6	31					0	0	0.004482	0	0	C	178936092	A	C	178936092	3	2	95	1	0	0	0	0	1	0	0	0	11913	304	11	5	1668	5	PIK3CA	3	178936092	Missense_Mutation	SNP	A	TCGA-DU-7298-01A-11D-2024-08	77363392	178936092	19086338	14	4171											
EPHA5	2044	broad.mit.edu	37	chr4	66361196	66361196	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttcctcatgggtataacTgtgaggtggacatttgccgc	8	12	12	9	1	1	1	1	1	0	0	2	2	2	2	2	3	3	2	2	3	2	4			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr4:66361196T>C	uc003hcy.3	-	3	1169	c.976A>G	c.(976-978)Agt>Ggt	p.S326G	EPHA5_uc003hcx.3_Missense_Mutation_p.S257G|EPHA5_uc003hcz.3_Missense_Mutation_p.S326G|EPHA5_uc011cah.2_Missense_Mutation_p.S326G|EPHA5_uc011cai.2_Missense_Mutation_p.S326G|EPHA5_uc003hda.2_Missense_Mutation_p.S326G	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	326	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGGGTATAACTGTGAGGTGGA	0.463										TSP Lung(17;0.13)			11	113					0	0	0.010729	0	0	C	66361196	T	C	66361196	3	2	95	1	0	0	0	0	1	0	0	0	5170	1580	55	4	2197	4	EPHA5	4	66361196	Missense_Mutation	SNP	T	TCGA-DU-7298-01A-11D-2024-08		66361196	124793080	15	4172											
ADH1C	126	broad.mit.edu	37	chr4	100260814	100260814	+	RNA	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttattaatgcatccagtgaAaacttcttagccataaagtc	14	13	6	8	0	1	1	0	1	1	0	3	1	2	1	2	0	3	2	2	0	7	5			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr4:100260814A>T	uc021xqi.1	-	7		c.1108T>A				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CATCCAGTGAAAACTTCTTAG	0.328													7	106					0	0	0.001984	0	0	T	100260814	A	T	100260814	1	4	95	0	1	0	0	0	0	0	0	0	309	11	1	5		5	ADH1C	4	100260814	RNA	SNP	A	TCGA-DU-7298-01A-11D-2024-08	33899618	100260814	90893462	16	4173											
PRDM5	11107	broad.mit.edu	37	chr4	121631494	121631494	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaggcttttctccagtgtgCgtcctcttgtgctcatccag	6	14	9	12	1	3	0	1	0	2	0	6	0	5	0	3	1	2	2	3	1	1	3			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr4:121631494C>T	uc003idn.3	-	14	1948	c.1698G>A	c.(1696-1698)acG>acA	p.T566T	PRDM5_uc003ido.3_Silent_p.T535T|PRDM5_uc010ine.3_3'UTR	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	Homo sapiens PR domain containing 5 (PRDM5), mRNA.	566					histone H3-K9 methylation|histone deacetylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTCCAGTGTGCGTCCTCTTGT	0.488													8	28					0	0	0.006214	0	0	T	121631494	C	T	121631494	2	4	95	1	0	0	0	0	0	0	0	1	12460	755	27	1		1	PRDM5	4	121631494	Silent	SNP	C	TCGA-DU-7298-01A-11D-2024-08	21370680	121631494	69522782	17	4174											
PDZD2	23037	broad.mit.edu	37	chr5	32089975	32089975	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggtcgcagaatcatccAcaagtcatccatcctcactc	11	8	6	16	1	3	1	3	0	0	1	8	1	6	1	4	1	0	1	4	1	2	0			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr5:32089975A>G	uc003jhl.3	+	19	6809	c.6421A>G	c.(6421-6423)Aca>Gca	p.T2141A	PDZD2_uc003jhm.3_Missense_Mutation_p.T2141A	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	2141	Ser-rich.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGAATCATCCACAAGTCATCC	0.562													5	62					0	0	0.014758	0	0	G	32089975	A	G	32089975	3	3	95	1	0	0	0	0	1	0	0	0	11701	159	6	3	6495	3	PDZD2	5	32089975	Missense_Mutation	SNP	A	TCGA-DU-7298-01A-11D-2024-08		32089975	148825285	18	4175											
ADAMTS19	171019	broad.mit.edu	37	chr5	129039955	129039955	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtcaagtgtggcaaaggCatacgtcatcggaccgttag	11	9	12	9	3	3	0	3	0	0	0	4	1	3	1	1	3	1	3	1	3	4	2			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr5:129039955C>A	uc003kvb.1	+	20	3165	c.3165C>A	c.(3163-3165)ggC>ggA	p.G1055G	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	1055	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GTGGCAAAGGCATACGTCATC	0.428													59	100					3.28615e-30	1.22683e-29	0.01441	1	0	A	129039955	C	A	129039955	2	1	95	1	0	0	0	0	0	0	0	1	264	697	25	5		5	ADAMTS19	5	129039955	Silent	SNP	C	TCGA-DU-7298-01A-11D-2024-08	96949980	129039955	51875305	19	4176											
RAD50	10111	broad.mit.edu	37	chr5	131930714	131930714	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaggcttaaagaggaaatTgaaaaatcatcaaaacagcg	20	6	9	6	1	2	2	2	1	0	1	2	4	2	3	0	2	2	1	0	2	7	2			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr5:131930714T>A	uc003kxi.3	+	11	2348	c.1947T>A	c.(1945-1947)atT>atA	p.I649I	RAD50_uc003kxh.3_Silent_p.I510I	NM_005732	NP_005723	Q92878	RAD50_HUMAN	Homo sapiens RAD50 homolog (S. cerevisiae) (RAD50), mRNA.	649	Zinc-hook.				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGAGGAAATTGAAAAATCAT	0.368								Homologous recombination					10	62					0	0	0.010729	0	0	A	131930714	T	A	131930714	2	1	95	1	0	0	0	0	0	0	0	1	12984	1800	63	5		5	RAD50	5	131930714	Silent	SNP	T	TCGA-DU-7298-01A-11D-2024-08	2890759	131930714	48984546	20	4177											
HAVCR1	26762	broad.mit.edu	37	chr5	156482407	156482407	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggttccattggtccagaCaatgccattttggcatgtga	8	13	12	8	0	0	2	0	1	0	1	2	2	2	2	3	3	1	2	3	3	1	4			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr5:156482407C>G	uc010jij.1	-	2	369	c.184G>C	c.(184-186)Gtc>Ctc	p.V62L	HAVCR1_uc011ddl.1_5'Flank|HAVCR1_uc003lwi.2_Missense_Mutation_p.V62L|HAVCR1_uc021ygj.1_Missense_Mutation_p.V62L|HAVCR1_uc021ygk.1_5'Flank|HAVCR1_uc011ddm.2_Missense_Mutation_p.V62L	NM_001099414	NP_036338	Q96D42	HAVR1_HUMAN	Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA.	62	Ig-like V-type.				interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGGTCCAGACAATGCCATTT	0.478													10	26					0	0	0.008291	0	0	G	156482407	C	G	156482407	3	3	95	1	0	0	0	0	1	0	0	0	6973	478	17	5	938	5	HAVCR1	5	156482407	Missense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08	24551693	156482407	24432853	21	4178											
RIPK1	8737	broad.mit.edu	37	chr6	3105782	3105782	+	Frame_Shift_Del	DEL	G	G	-																															gggtcctgtggaggagtcctGgtttgctccttccctggagc																										TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr6:3105782delG	uc010jni.3	+	8	1305	c.1073delG	c.(1072-1074)tggfs	p.W358fs	RIPK1_uc003muv.4_Frame_Shift_Del_p.W195fs|RIPK1_uc003mux.3_Frame_Shift_Del_p.W358fs|RIPK1_uc011dhs.2_Frame_Shift_Del_p.W312fs	NM_003804	NP_003795	Q13546	RIPK1_HUMAN	Homo sapiens receptor (TNFRSF)-interacting serine-threonine kinase 1 (RIPK1), mRNA.	358	Interaction with SQSTM1.				MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of JUN kinase activity|activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|positive regulation of interleukin-8 production|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GAGGAGTCCTGGTTTGCTCCT	0.527													47	111	---	---	---	---						-	3105782	G	-	3105782	7	5	95	1	0	1	0	1	0	0	0	0	13380	1357	47	0	1103	0	RIPK1	6	3105782	Frame_Shift_Del	DEL	G	TCGA-DU-7298-01A-11D-2024-08		3105782	168009285	22	4179											
KIF13A	63971	broad.mit.edu	37	chr6	17764345	17764345	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacagttagacatactcatTgacagcacagaacccaaaag	18	7	6	10	0	1	3	1	1	0	2	1	3	1	3	1	0	4	2	1	0	6	4			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr6:17764345T>C	uc003ncg.4	-	38	5574	c.5414A>G	c.(5413-5415)cAa>cGa	p.Q1805R	KIF13A_uc003ncf.3_Intron|KIF13A_uc003nch.4_Missense_Mutation_p.Q1770R|KIF13A_uc003nci.4_Missense_Mutation_p.Q1757R|KIF13A_uc003nce.2_Intron	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1805					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			ACATACTCATTGACAGCACAG	0.493													8	22					0	0	0.004482	0	0	C	17764345	T	C	17764345	3	2	95	1	0	0	0	0	1	0	0	0	8274	1812	63	3	32	3	KIF13A	6	17764345	Missense_Mutation	SNP	T	TCGA-DU-7298-01A-11D-2024-08	14658563	17764345	153350722	23	4180											
SCIN	85477	broad.mit.edu	37	chr7	12668832	12668832	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacacctatcccagaggacAgattatctacacgtggtgag	12	9	9	11	1	1	3	0	1	1	2	2	4	2	4	2	2	2	0	2	2	4	4			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr7:12668832A>T	uc003ssn.4	+	8	1514	c.1304A>T	c.(1303-1305)cAg>cTg	p.Q435L	SCIN_uc010ktt.3_Non-coding_Transcript|SCIN_uc003sso.4_Missense_Mutation_p.Q188L	NM_001112706	NP_149119	Q9Y6U3	ADSV_HUMAN	Homo sapiens scinderin (SCIN), transcript variant 1, mRNA.	435	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CCCAGAGGACAGATTATCTAC	0.413													22	66					0	0	0.01892	0	0	T	12668832	A	T	12668832	3	4	95	1	0	0	0	0	1	0	0	0	13905	188	7	5	1338	5	SCIN	7	12668832	Missense_Mutation	SNP	A	TCGA-DU-7298-01A-11D-2024-08		12668832	146469831	24	4181											
CPVL	54504	broad.mit.edu	37	chr7	29134736	29134736	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcatggagagcgttgtggtCcaggggaagtctctgtcacg	8	9	16	8	2	2	1	1	0	1	1	4	3	3	2	1	4	2	2	1	4	1	1			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr7:29134736C>T	uc003szv.3	-	4	545	c.426G>A	c.(424-426)tgG>tgA	p.W142*	CPVL_uc003szw.3_Nonsense_Mutation_p.W142*|CPVL_uc003szx.3_Nonsense_Mutation_p.W142*	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	Homo sapiens carboxypeptidase, vitellogenic-like (CPVL), transcript variant 1, mRNA.	142					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						GCGTTGTGGTCCAGGGGAAGT	0.507													11	42					0	0	0.013537	0	0	T	29134736	C	T	29134736	4	4	95	1	0	0	0	0	0	1	0	0	3835	856	30	3	1040	3	CPVL	7	29134736	Nonsense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08	16465904	29134736	130003927	25	4182											
DCDC1	341019	broad.mit.edu	37	chr11	31312399	31312399	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttaattaacaacagatggTctagaagataattttttaag	16	15	6	4	0	2	3	0	0	2	3	2	3	2	3	0	1	2	0	0	1	7	7			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr11:31312399T>C	uc001msv.3	-	7	993	c.755_splice	c.e7-1	p.D252_splice	DCDC5_uc001msu.2_Intron	NM_181807	NP_861523	P59894	DCDC1_HUMAN	Homo sapiens doublecortin domain containing 1 (DCDC1), mRNA.	252	Doublecortin.				intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CAACAGATGGTCTAGAAGATA	0.338													14	20					0	0	0.020292	0	0	C	31312399	T	C	31312399	5	2	95	1	0	0	0	0	0	0	1	0	4284	1681	58	3	321	3	DCDC1	11	31312399	Splice_Site	SNP	T	TCGA-DU-7298-01A-11D-2024-08		31312399	103694117	26	4183											
CREBZF	58487	broad.mit.edu	37	chr11	85375242	85375244	+	In_Frame_Del	DEL	CTT	CTT	-																															tccagccccatcacgtactcCttcttcttcagtcgattaag																										TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr11:85375242_85375244delCTT	uc001pas.2	-	0	939_941	c.676_678delAAG	c.(676-678)aagdel	p.K226del	CREBZF_uc010rtd.1_Non-coding_Transcript|CREBZF_uc010rtc.1_Non-coding_Transcript	NM_001039618	NP_001034707	Q9NS37	ZHANG_HUMAN	Homo sapiens CREB/ATF bZIP transcription factor (CREBZF), transcript variant 1, mRNA.	226					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K226delK(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCACGTACTCCTTCTTCTTCAGT	0.665											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	106	---	---	---	---						-	85375244	CTT	-	85375242	7	5	95	1	0	1	0	1	0	0	0	0	3863	680	24	0	390	0	CREBZF	11	85375242	In_Frame_Del	DEL	CTT	TCGA-DU-7298-01A-11D-2024-08	54062843	85375242	49631274	27	4184											
EIF4B	1975	broad.mit.edu	37	chr12	53431273	53431273	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgccactctccaacttctAaacctcccaaacctgatcag	12	10	3	16	0	3	1	1	1	2	0	5	1	4	1	5	0	4	0	5	0	4	3			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr12:53431273A>G	uc001sbh.4	+	10	1593	c.1387A>G	c.(1387-1389)Aaa>Gaa	p.K463E	EIF4B_uc010snu.2_Missense_Mutation_p.K468E|EIF4B_uc010snv.2_Missense_Mutation_p.K424E	NM_001417	NP_001408	P23588	IF4B_HUMAN	Homo sapiens eukaryotic translation initiation factor 4B (EIF4B), mRNA.	463					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						TCCAACTTCTAAACCTCCCAA	0.478													14	19					0	0	0.008871	0	0	G	53431273	A	G	53431273	3	3	95	1	0	0	0	0	1	0	0	0	5027	363	13	3	1429	3	EIF4B	12	53431273	Missense_Mutation	SNP	A	TCGA-DU-7298-01A-11D-2024-08		53431273	80420622	28	4185											
SELPLG	6404	broad.mit.edu	37	chr12	109017462	109017462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggtctgtgcttccatggCtgctggtgcagtggtctgtg	3	14	16	8	0	2	0	0	0	2	0	3	0	3	0	1	4	3	4	1	4	0	1			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr12:109017462C>T	uc010sxe.2	-	1	847	c.670G>A	c.(670-672)Gcc>Acc	p.A224T	SELPLG_uc001tni.3_Missense_Mutation_p.A208T|SELPLG_uc021rdm.1_Missense_Mutation_p.A198T|SELPLG_uc001tnh.3_Missense_Mutation_p.A198T	NM_001206609	NP_001193538	Q14242	SELPL_HUMAN	Homo sapiens selectin P ligand (SELPLG), transcript variant 1, mRNA.	208	12 X 10 AA tandem repeats.				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GCTTCCATGGCTGCTGGTGCA	0.622													10	34					0	0	0.008291	0	0	T	109017462	C	T	109017462	3	4	95	1	0	0	0	0	1	0	0	0	14020	797	28	3	620	3	SELPLG	12	109017462	Missense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08	55586189	109017462	24834433	29	4186											
ACIN1	22985	broad.mit.edu	37	chr14	23564434	23564434	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cactgccatactctacccctCgattaccactcagaactccc	10	9	3	19	1	2	1	1	0	1	1	4	2	3	1	5	0	5	0	5	0	4	3			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr14:23564434C>G	uc001wit.4	-	0	390	c.62G>C	c.(61-63)cGa>cCa	p.R21P	ACIN1_uc010akg.3_Missense_Mutation_p.R21P|ACIN1_uc010tnj.2_Missense_Mutation_p.R21P|C14orf119_uc001wiu.3_5'Flank|C14orf119_uc021rqv.1_5'Flank	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.	21					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CTCTACCCCTCGATTACCACT	0.592													8	98					0	0	0.004482	0	0	G	23564434	C	G	23564434	3	3	95	1	0	0	0	0	1	0	0	0	142	884	31	5	4186	5	ACIN1	14	23564434	Missense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08		23564434	83785106	30	4187											
JPH4	84502	broad.mit.edu	37	chr14	24040638	24040638	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatccaggggctccgtgtcGgaaccttctgagtcctgcct	5	11	11	14	2	2	1	1	1	1	0	6	2	5	2	5	3	2	1	5	3	1	1			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr14:24040638G>A	uc001wkq.2	-	5	2220	c.1302C>T	c.(1300-1302)tcC>tcT	p.S434S	JPH4_uc010tnr.1_Silent_p.S99S|JPH4_uc001wkr.2_Silent_p.S434S	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN	Homo sapiens junctophilin 4 (JPH4), transcript variant 1, mRNA.	434					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GCTCCGTGTCGGAACCTTCTG	0.617													6	43					0	0	0.001168	0	0	A	24040638	G	A	24040638	2	1	95	1	0	0	0	0	0	0	0	1	7963	1103	39	2		2	JPH4	14	24040638	Silent	SNP	G	TCGA-DU-7298-01A-11D-2024-08	476204	24040638	83308902	31	4188											
GLOD4	51031	broad.mit.edu	37	chr17	685481	685481	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaatacgaagtgcagagcTctgcgagcagccatgattcc	11	9	11	10	2	1	3	0	2	1	1	2	5	2	3	2	0	6	3	2	0	3	3			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr17:685481T>C	uc002frv.3	-	0	91	c.15A>G	c.(13-15)agA>agG	p.R5R	GLOD4_uc002fru.3_Silent_p.R5R|GLOD4_uc010vqc.2_5'UTR|RNMTL1_uc002frw.3_5'Flank	NM_016080	NP_057164	Q9HC38	GLOD4_HUMAN	Homo sapiens glyoxalase domain containing 4 (GLOD4), mRNA.	5						mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		AGTGCAGAGCTCTGCGAGCAG	0.662													4	17					0	0	0.014758	0	0	C	685481	T	C	685481	2	2	95	1	0	0	0	0	0	0	0	1	6450	1548	54	4		4	GLOD4	17	685481	Silent	SNP	T	TCGA-DU-7298-01A-11D-2024-08		685481	80509729	32	4189											
TP53	7157	broad.mit.edu	37	chr17	7578177	7578177	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accccagttgcaaaccagacCtcaggcggctcatagggcac	11	5	10	15	1	2	1	2	0	0	1	2	1	2	1	4	3	2	4	4	3	2	2			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr17:7578177C>T	uc002gim.2	-	6	866	c.672_splice	c.e6+1	p.E224_splice	TP53_uc002gig.1_Splice_Site_p.E224_splice|TP53_uc002gih.3_Splice_Site_p.E224_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Splice_Site_p.E92_splice|TP53_uc010cnf.1_Splice_Site_p.E92_splice|TP53_uc002gii.1_Splice_Site_p.E92_splice|TP53_uc010cni.1_Splice_Site_p.E224_splice|TP53_uc010cnh.1_Splice_Site_p.E224_splice|TP53_uc002gij.2_Splice_Site_p.E224_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Splice_Site_p.E131_splice|TP53_uc002gio.2_Splice_Site_p.E92_splice|TP53_uc010vug.2_Silent_p.E185E|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	224	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E224D(20)|p.?(13)|p.E224E(12)|p.0?(8)|p.E131D(3)|p.E131E(2)|p.V218_E224delVPYEPPE(1)|p.V225fs*24(1)|p.E224_V225insXX(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)		CAAACCAGACCTCAGGCGGCT	0.532		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)			11	11					0	0	0.013537	0	0	T	7578177	C	T	7578177	5	4	95	1	0	0	0	0	0	0	1	0	16378	695	24	3	622	3	TP53	17	7578177	Splice_Site	SNP	C	TCGA-DU-7298-01A-11D-2024-08	6892696	7578177	73617033	33	4190											
TP53	7157	broad.mit.edu	37	chr17	7578271	7578271	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttccactcggataagaTgctgaggaggggccagacct	9	9	12	11	1	0	3	0	1	0	2	3	5	2	5	4	4	1	1	4	4	1	3			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr17:7578271T>G	uc002gim.2	-	5	772	c.578A>C	c.(577-579)cAt>cCt	p.H193P	TP53_uc002gig.1_Missense_Mutation_p.H193P|TP53_uc002gih.3_Missense_Mutation_p.H193P|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H61P|TP53_uc010cnf.1_Missense_Mutation_p.H61P|TP53_uc002gii.1_Missense_Mutation_p.H61P|TP53_uc010cni.1_Missense_Mutation_p.H193P|TP53_uc010cnh.1_Missense_Mutation_p.H193P|TP53_uc002gij.2_Missense_Mutation_p.H193P|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H100P|TP53_uc002gio.2_Missense_Mutation_p.H61P|TP53_uc010vug.2_Missense_Mutation_p.H154P	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H193R(152)|p.H193L(77)|p.Q192*(71)|p.H193P(32)|p.H193Y(27)|p.H193D(9)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.H193fs*16(6)|p.?(6)|p.Q192R(5)|p.P191_E198>Q(4)|p.H193N(4)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.Q192H(3)|p.H193_I195delHLI(2)|p.P191fs*53(2)|p.H193H(2)|p.Q192Q(2)|p.Q192K(2)|p.H61P(2)|p.H100P(2)|p.H193_I195>AP(2)|p.A189fs*53(1)|p.K164_P219del(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192>XXXXXXXXX(1)|p.P98_E105>Q(1)|p.Q192del(1)|p.Q192fs*56(1)|p.Q192fs*16(1)|p.Q192fs*30(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)		TCGGATAAGATGCTGAGGAGG	0.562		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)			6	17					0	0	0.001984	0	0	G	7578271	T	G	7578271	3	3	95	1	0	0	0	0	1	0	0	0	16378	1464	51	5	716	5	TP53	17	7578271	Missense_Mutation	SNP	T	TCGA-DU-7298-01A-11D-2024-08	94	7578271	73616939	34	4191											
CDRT1	374286	broad.mit.edu	37	chr17	15510998	15510998	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccacaggttgtactcattCtaacaagggaatatttgaag	13	12	9	7	0	2	1	1	1	1	0	3	2	3	2	1	2	2	2	1	2	6	6			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr17:15510998C>A	uc002gor.1	-	12	2390	c.2053_splice	c.e12-1	p.N685_splice	CDRT1_uc002gov.4_Splice_Site_p.N375_splice|CDRT1_uc002gou.2_Splice_Site			O95170	CDRT1_HUMAN	Homo sapiens tripartite motif containing 16 (TRIM16), mRNA.	375										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		TGTACTCATTCTAACAAGGGA	0.488													16	16					1.99824e-07	7.29791e-07	0.00499	1	0	A	15510998	C	A	15510998	5	1	95	1	0	0	0	0	0	0	1	0	3174	927	32	5	1164	5	CDRT1	17	15510998	Splice_Site	SNP	C	TCGA-DU-7298-01A-11D-2024-08	7932727	15510998	65684212	35	4192											
FBXO47	494188	broad.mit.edu	37	chr17	37107930	37107930	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactcaagttcatcccaacCtgctgttaaggtctgaggaa	11	10	9	11	0	3	1	2	1	1	0	4	2	4	2	2	2	2	4	2	2	4	2			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr17:37107930C>T	uc002hrc.2	-	5	720	c.520G>A	c.(520-522)Ggt>Agt	p.G174S		NM_001008777	NP_001008777	Q5MNV8	FBX47_HUMAN	Homo sapiens F-box protein 47 (FBXO47), mRNA.	174										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						TCATCCCAACCTGCTGTTAAG	0.423													14	42					0	0	0.020292	0	0	T	37107930	C	T	37107930	3	4	95	1	0	0	0	0	1	0	0	0	5756	681	24	3	862	3	FBXO47	17	37107930	Missense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08	21596932	37107930	44087280	36	4193											
NEDD4L	23327	broad.mit.edu	37	chr18	55912729	55912729	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgctttggtccagacaaaaAcaattaaaaaggtaggtgtc	15	11	9	6	0	0	1	0	0	0	1	2	1	1	1	1	3	2	2	1	3	7	4			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr18:55912729A>G	uc002lgy.3	+	2	476	c.193A>G	c.(193-195)Aca>Gca	p.T65A	NEDD4L_uc002lgz.3_Missense_Mutation_p.T65A|NEDD4L_uc002lgx.3_Missense_Mutation_p.T65A|NEDD4L_uc010xee.1_5'UTR|NEDD4L_uc002lhc.2_Missense_Mutation_p.T57A|NEDD4L_uc002lhd.2_5'UTR|NEDD4L_uc002lhb.2_5'UTR|NEDD4L_uc002lhe.2_Missense_Mutation_p.T57A|NEDD4L_uc002lhf.3_5'UTR|NEDD4L_uc010dpl.2_Non-coding_Transcript|NEDD4L_uc002lhg.3_5'UTR|NEDD4L_uc002lhh.2_5'UTR	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.	65	C2.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						CCAGACAAAAACAATTAAAAA	0.333													2	6					0	0	0.004672	0	0	G	55912729	A	G	55912729	3	3	95	1	0	0	0	0	1	0	0	0	10311	43	2	3	231	3	NEDD4L	18	55912729	Missense_Mutation	SNP	A	TCGA-DU-7298-01A-11D-2024-08		55912729	22164519	37	4194											
ZNF573	126231	broad.mit.edu	37	chr19	38229203	38229203	+	Splice_Site	DEL	C	C	-																															ctgtttttttttttttttttCttaatttaccattgaatagt																								rs74268405		TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr19:38229203delC	uc002ohe.3	-	5	2257	c.2188_splice	c.e5+1		ZNF573_uc010efs.2_Splice_Site|ZNF573_uc002ohd.3_Splice_Site|ZNF573_uc002ohf.3_Splice_Site|ZNF573_uc002ohg.3_Splice_Site|ZNF573_uc021utv.1_Splice_Site	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TTTTTTTTTTCTTAATTTACC	0.328													3	5	---	---	---	---						-	38229203	C	-	38229203	8	5	95	1	0	1	0	1	0	0	1	0	18002	927	32	0		0	ZNF573	19	38229203	Splice_Site	DEL	C	TCGA-DU-7298-01A-11D-2024-08		38229203	20899780	38	4195											
GNAS	2778	broad.mit.edu	37	chr20	57429499	57429500	+	In_Frame_Ins	INS	-	-	GCAGCCCCT																															cagcggataccgctgccaggINSgcagcccctgcagccccagc																										TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr20:57429499_57429500insGCAGCCCCT	uc002xzw.3	+	0	1464_1465	c.1179_1180insGCAGCCCCT	c.(1177-1182)insGCAGCCCCT	p.399_400insAAP	GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	0					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCGCTGCCAGGGCAGCCCCTGC	0.688			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			3	5	---	---	---	---						GCAGCCCCT	57429500	-	GCAGCCCCT	57429499	7	5	95	1	0	1	1	0	0	0	0	0	6510	1232	43	0	1923	0	GNAS	20	57429499	In_Frame_Ins	INS	-	TCGA-DU-7298-01A-11D-2024-08		57429499	5596021	39	4196											
SMTN	6525	broad.mit.edu	37	chr22	31484563	31484563	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagggcagctggagtccAtgaacgatgtggaggaattg	10	8	17	6	1	0	1	0	1	0	0	1	5	1	4	1	5	2	3	1	5	2	1			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr22:31484563A>G	uc003ajl.2	+	3	506	c.265A>G	c.(265-267)Atg>Gtg	p.M89V	SMTN_uc003ajk.2_Missense_Mutation_p.M89V|SMTN_uc003ajm.2_Missense_Mutation_p.M89V|SMTN_uc011ale.2_Missense_Mutation_p.M143V|SMTN_uc011alf.2_Missense_Mutation_p.M145V|SMTN_uc003ajn.2_Missense_Mutation_p.M81V|SMTN_uc011alg.2_5'Flank	NM_006932	NP_008863	P53814	SMTN_HUMAN	Homo sapiens smoothelin (SMTN), transcript variant 3, mRNA.	89					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GCTGGAGTCCATGAACGATGT	0.637													7	46					0	0	0.00308	0	0	G	31484563	A	G	31484563	3	3	95	1	0	0	0	0	1	0	0	0	14814	217	8	3	275	3	SMTN	22	31484563	Missense_Mutation	SNP	A	TCGA-DU-7298-01A-11D-2024-08		31484563	19820003	40	4197											
PIM3	415116	broad.mit.edu	37	chr22	50354613	50354613	+	Frame_Shift_Del	DEL	C	C	-																															gcgatgctgctctccaagttCggctccctggcgcacctctg																										TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr22:50354613delC	uc003bjb.3	+	0	471	c.18delC	c.(16-18)ttcfs	p.F6fs	PIM3_uc011arj.2_5'Flank	NM_001001852	NP_001001852	Q86V86	PIM3_HUMAN	Homo sapiens pim-3 oncogene (PIM3), mRNA.	6					cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle		ATP binding|protein binding|protein serine/threonine kinase activity						all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		TCTCCAAGTTCGGCTCCCTGG	0.801													2	4	---	---	---	---						-	50354613	C	-	50354613	7	5	95	1	0	1	0	1	0	0	0	0	11929	883	31	0	20	0	PIM3	22	50354613	Frame_Shift_Del	DEL	C	TCGA-DU-7298-01A-11D-2024-08	18870050	50354613	949953	41	4198											
FAM123B	139285	broad.mit.edu	37	chrX	63410720	63410720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacttgccttccccatccCgttccacatcagcgatgtca	8	10	5	18	2	2	0	2	0	0	0	5	1	5	0	5	0	2	1	5	0	0	3			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chrX:63410720C>T	uc022byb.1	-	0	2447	c.2447G>A	c.(2446-2448)cGg>cAg	p.R816Q	FAM123B_uc004dvo.3_Missense_Mutation_p.R816Q	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	816					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						TTCCCCATCCCGTTCCACATC	0.498													11	27					0	0	0.010729	0	0	T	63410720	C	T	63410720	3	4	95	1	0	0	0	0	1	0	0	0	5423	652	23	2	964	2	FAM123B	23	63410720	Missense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08		63410720	91859840	42	4199											
ATRX	546	broad.mit.edu	37	chrX	76937745	76937745	+	Frame_Shift_Del	DEL	T	T	-																															tgttgttccattttaattacTtttttcttaaagtctgaagg																										TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chrX:76937745delT	uc004ecp.4	-	8	3235	c.3003delA	c.(3001-3003)aaafs	p.K1001fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K963fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K786fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K933fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K972fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K946fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1001					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTTTAATTACTTTTTTCTTAA	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						63	109	---	---	---	---						-	76937745	T	-	76937745	7	5	95	1	0	1	0	1	0	0	0	0	1208	1606	56	0	4583	0	ATRX	23	76937745	Frame_Shift_Del	DEL	T	TCGA-DU-7298-01A-11D-2024-08	13527025	76937745	78332815	43	4200											
NRK	203447	broad.mit.edu	37	chrX	105167163	105167163	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccctgtatacttgacaaaCgaatgggtaggctataatgc	12	10	9	10	1	0	1	0	1	0	0	0	2	0	1	2	2	3	3	2	2	7	6			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chrX:105167163C>T	uc004emd.3	+	17	2967	c.2664C>T	c.(2662-2664)aaC>aaT	p.N888N	NRK_uc010npc.1_Silent_p.N556N	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	888							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ACTTGACAAACGAATGGGTAG	0.418										HNSCC(51;0.14)			51	88					0	0	0.01441	0	0	T	105167163	C	T	105167163	2	4	95	1	0	0	0	0	0	0	0	1	10655	535	19	1		1	NRK	23	105167163	Silent	SNP	C	TCGA-DU-7298-01A-11D-2024-08	28229418	105167163	50103397	44	4201											
CNGA2	1260	broad.mit.edu	37	chrX	150909279	150909279	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctcaggaagaaatttgaaCtatttgtcttggacccagct	11	14	8	8	0	2	2	1	1	2	1	3	4	2	4	1	2	2	1	1	2	4	5			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chrX:150909279C>G	uc004fey.1	+	4	612	c.388C>G	c.(388-390)Cta>Gta	p.L130V		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	130					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GAAATTTGAACTATTTGTCTT	0.527													40	124					0	0	0.01441	0	0	G	150909279	C	G	150909279	3	3	95	1	0	0	0	0	1	0	0	0	3597	564	20	5	402	5	CNGA2	23	150909279	Missense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08	45742116	150909279	4361281	45	4202											
MMEL1	79258	broad.mit.edu	37	chr1	2526254	2526254	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggtccaccttttcccgaaGcttcctgaggctccgctggg	4	11	12	14	2	0	1	0	1	0	0	4	2	4	1	5	3	1	3	5	3	1	3			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:2526254G>T	uc001ajy.2	-	16	1877	c.1663C>A	c.(1663-1665)Ctt>Att	p.L555I	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	555					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		TTTTCCCGAAGCTTCCTGAGG	0.627													4	68					2.56e-06	2.90133e-06	0.009096	1	0	T	2526254	G	T	2526254	3	4	96	1	0	0	0	0	1	0	0	0	9646	971	34	5	708	5	MMEL1	1	2526254	Missense_Mutation	SNP	G	TCGA-DU-7299-01A-21D-2024-08		2526254	246724367	1	4203											
RERE	473	broad.mit.edu	37	chr1	8716199	8716200	+	Frame_Shift_Del	DEL	CT	CT	-																															cctcgtcttcactgtgatcaCtctcagcataatttttggct																										TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:8716199_8716200delCT	uc001ape.3	-	2	967_968	c.157_158delAG	c.(157-159)agtfs	p.S53fs	RERE_uc001apf.3_Frame_Shift_Del_p.S53fs|RERE_uc001aph.1_Frame_Shift_Del_p.S53fs	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	53					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		ACTGTGATCACTCTCAGCATAA	0.465													115	286	---	---	---	---						-	8716200	CT	-	8716199	7	5	96	1	0	1	0	1	0	0	0	0	13231	565	20	0	4630	0	RERE	1	8716199	Frame_Shift_Del	DEL	CT	TCGA-DU-7299-01A-21D-2024-08	6189945	8716199	240534422	2	4204											
PRAMEF8	391002	broad.mit.edu	37	chr1	12979789	12979789	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttaaaggagctggacctgagGggtgtcacgctgacccattt	9	10	13	9	1	1	2	1	2	0	0	1	4	1	4	2	4	1	2	2	4	2	2			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:12979789G>T	uc001aup.3	+	3	1064	c.981G>T	c.(979-981)agG>agT	p.R327S		NM_001012276	NP_001012277	Q5VWM4	PRAM8_HUMAN	Homo sapiens PRAME family member 8 (PRAMEF8), mRNA.	327												Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGACCTGAGGGGTGTCACGC	0.572													9	163					0.00621372	0.00674254	0.058154	1	0	T	12979789	G	T	12979789	3	4	96	1	0	0	0	0	1	0	0	0	12440	1223	43	5	991	5	PRAMEF8	1	12979789	Missense_Mutation	SNP	G	TCGA-DU-7299-01A-21D-2024-08	4263590	12979789	236270832	3	4205											
GALE	2582	broad.mit.edu	37	chr1	24124673	24124673	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggcttctgcaccgactcGcccacggccttgagccccgc	6	6	11	18	4	1	2	0	1	1	1	2	3	1	2	5	2	2	2	5	2	0	2			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:24124673G>A	uc009vqo.1	-	3	495	c.285C>T	c.(283-285)ggC>ggT	p.G95G	GALE_uc001bhv.1_Silent_p.G95G|GALE_uc001bhx.1_Silent_p.G95G|GALE_uc001bhz.1_Silent_p.G21G|GALE_uc009vqq.1_3'UTR	NM_001127621	NP_001121093	Q14376	GALE_HUMAN	Homo sapiens UDP-galactose-4-epimerase (GALE), transcript variant 3, mRNA.	95					galactose catabolic process	cytosol	UDP-glucose 4-epimerase activity|coenzyme binding|protein homodimerization activity			endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		GCACCGACTCGCCCACGGCCT	0.557													22	44					0	0	0.0918	0	0	A	24124673	G	A	24124673	2	1	96	1	0	0	0	0	0	0	0	1	6202	1074	38	1		1	GALE	1	24124673	Silent	SNP	G	TCGA-DU-7299-01A-21D-2024-08	11144884	24124673	225125948	4	4206											
VPS72	6944	broad.mit.edu	37	chr1	151158055	151158055	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttctgagagctaccagcCggggtgttgacctttcgagg	6	10	14	11	2	1	2	0	2	1	1	2	4	1	2	4	3	3	2	4	3	1	4			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:151158055C>T	uc001exe.1	-	2	355	c.312G>A	c.(310-312)ccG>ccA	p.P104P	VPS72_uc001exf.1_Silent_p.P104P	NM_005997	NP_005988	Q15906	VPS72_HUMAN	Homo sapiens vacuolar protein sorting 72 homolog (S. cerevisiae) (VPS72), mRNA.	104					chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGCTACCAGCCGGGGTGTTGA	0.498													17	194					0	0	0.038395	0	0	T	151158055	C	T	151158055	2	4	96	1	0	0	0	0	0	0	0	1	17214	639	23	2		2	VPS72	1	151158055	Silent	SNP	C	TCGA-DU-7299-01A-21D-2024-08	127033382	151158055	98092566	5	4207											
CACNA1S	779	broad.mit.edu	37	chr1	201047179	201047181	+	In_Frame_Del	DEL	TCT	TCT	-																															gcgcaggcccagcccgtacaTcttcatcagcatctcagtgg																								rs9333651		TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:201047179_201047181delTCT	uc001gvv.3	-	10	1672_1674	c.1445_1447delAGA	c.(1444-1449)aagatg>atg	p.K482del		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	482					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGCCCGTACATCTTCATCAGCAT	0.571													37	70	---	---	---	---						-	201047181	TCT	-	201047179	7	5	96	1	0	1	0	1	0	0	0	0	2547	1435	50	0	4310	0	CACNA1S	1	201047179	In_Frame_Del	DEL	TCT	TCGA-DU-7299-01A-21D-2024-08	49889124	201047179	48203442	6	4208											
LYST	1130	broad.mit.edu	37	chr1	235964233	235964233	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattttcaaaaaactctcaaAtacatgggcaagcacatcaa	19	9	4	9	0	3	0	3	0	1	0	4	0	3	0	0	1	3	2	0	1	8	3			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:235964233A>C	uc001hxj.2	-	8	4052	c.3877T>G	c.(3877-3879)Ttt>Gtt	p.F1293V	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Missense_Mutation_p.F1293V	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	1293					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AAACTCTCAAATACATGGGCA	0.308													3	56					0	0	0.004672	0	0	C	235964233	A	C	235964233	3	2	96	1	0	0	0	0	1	0	0	0	9128	101	4	5	7708	5	LYST	1	235964233	Missense_Mutation	SNP	A	TCGA-DU-7299-01A-21D-2024-08	34917054	235964233	13286388	7	4209											
CHRM3	1131	broad.mit.edu	37	chr1	240071460	240071460	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattacttttggcacagccAtcgctgctttttatatgcct	7	16	6	12	1	0	0	0	0	0	0	1	0	0	0	3	1	4	3	3	1	3	7			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:240071460A>G	uc021plc.1	+	0	709	c.709A>G	c.(709-711)Atc>Gtc	p.I237V	CHRM3_uc001hyp.3_Missense_Mutation_p.I237V	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	237					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TGGCACAGCCATCGCTGCTTT	0.453													9	114					0	0	0.069234	0	0	G	240071460	A	G	240071460	3	3	96	1	0	0	0	0	1	0	0	0	3378	217	8	3	711	3	CHRM3	1	240071460	Missense_Mutation	SNP	A	TCGA-DU-7299-01A-21D-2024-08	4107227	240071460	9179161	8	4210											
MTIF2	4528	broad.mit.edu	37	chr2	55479696	55479696	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaaccaatacgacaatgTcagtgacctgagcacctctg	13	8	7	13	1	2	2	1	2	1	0	2	3	2	2	3	0	4	1	3	0	5	2			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr2:55479696T>C	uc002ryn.3	-	8	1495	c.758A>G	c.(757-759)gAc>gGc	p.D253G	MTIF2_uc010yox.2_Intron|MTIF2_uc002ryo.3_Missense_Mutation_p.D253G	NM_001005369	NP_002444	P46199	IF2M_HUMAN	Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	253	G-domain.				regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity	p.D253N(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						TACGACAATGTCAGTGACCTG	0.463													37	58					0	0	0.039052	0	0	C	55479696	T	C	55479696	3	2	96	1	0	0	0	0	1	0	0	0	9934	1667	58	3	1461	3	MTIF2	2	55479696	Missense_Mutation	SNP	T	TCGA-DU-7299-01A-21D-2024-08		55479696	187719677	9	4211											
LRP1B	53353	broad.mit.edu	37	chr2	141128328	141128328	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacacagtcatgaattccAtcacacagccatctaattgg	13	10	5	13	0	3	1	2	1	1	0	5	1	5	1	3	1	1	0	3	1	2	3			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr2:141128328A>G	uc002tvj.1	-	70	11931	c.10959T>C	c.(10957-10959)gaT>gaC	p.D3653D		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3653	LDL-receptor class A 29.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D3653N(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATGAATTCCATCACACAGCC	0.393										TSP Lung(27;0.18)			6	206					0	0	0.02938	0	0	G	141128328	A	G	141128328	2	3	96	1	0	0	0	0	0	0	0	1	8955	214	8	3		3	LRP1B	2	141128328	Silent	SNP	A	TCGA-DU-7299-01A-21D-2024-08	85648632	141128328	102071045	10	4212											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								29	32					0	0	0.037714	0	0	T	209113112	C	T	209113112	3	4	96	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7299-01A-21D-2024-08	67984784	209113112	34086261	11	4213											
OBSL1	23363	broad.mit.edu	37	chr2	220428315	220428316	+	Frame_Shift_Del	DEL	AT	AT	-																															gttatggcatgcacgaacacAtgttctcgggggtccacgat																										TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr2:220428315_220428316delAT	uc010fwk.3	-	6	2755_2756	c.2441_2442delAT	c.(2440-2442)catfs	p.H814fs	OBSL1_uc010zli.1_5'Flank|OBSL1_uc010fwl.2_Frame_Shift_Del_p.H814fs|OBSL1_uc002vmi.3_Frame_Shift_Del_p.H814fs	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	814	Ig-like 6.				cardiac myofibril assembly	M band|Z disc|intercalated disc|perinuclear region of cytoplasm	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCACGAACACATGTTCTCGGGG	0.594													67	99	---	---	---	---						-	220428316	AT	-	220428315	7	5	96	1	0	1	0	1	0	0	0	0	10813	214	8	0	3460	0	OBSL1	2	220428315	Frame_Shift_Del	DEL	AT	TCGA-DU-7299-01A-21D-2024-08	11315203	220428315	22771058	12	4214											
SNED1	25992	broad.mit.edu	37	chr2	241989284	241989284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttcaacggaggctcctgcGatgcccatgacgactcctac	8	8	10	15	3	1	1	1	1	0	0	3	4	3	2	3	2	4	2	3	2	2	2			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr2:241989284G>A	uc002wah.1	+	11	1669	c.1669G>A	c.(1669-1671)Gat>Aat	p.D557N		NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	557	EGF-like 7.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		AGGCTCCTGCGATGCCCATGA	0.692													17	57					0	0	0.049695	0	0	A	241989284	G	A	241989284	3	1	96	1	0	0	0	0	1	0	0	0	14845	1058	37	2	1715	2	SNED1	2	241989284	Missense_Mutation	SNP	G	TCGA-DU-7299-01A-21D-2024-08	21560969	241989284	1210089	13	4215											
PCDHAC2	56134	broad.mit.edu	37	chr5	140181907	140181907	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgctctgatcagcgtgtcCgaccgcgactcaggagtcaa	9	8	11	13	5	4	1	3	1	1	0	6	4	5	2	2	1	1	1	2	1	1	0			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr5:140181907C>T	uc003lhf.2	+	0	1125	c.1125C>T	c.(1123-1125)tcC>tcT	p.S375S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.S375S	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	390	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGCGTGTCCGACCGCGACT	0.483													39	83					0	0	0.086207	0	0	T	140181907	C	T	140181907	2	4	96	1	0	0	0	0	0	0	0	1	11533	639	23	2		2	PCDHAC2	5	140181907	Silent	SNP	C	TCGA-DU-7299-01A-21D-2024-08		140181907	40733353	14	4216											
CRISP2	7180	broad.mit.edu	37	chr6	49663637	49663637	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctattcatattattaccActgaaatttgaaatacatgt	14	18	3	6	0	2	2	1	2	1	0	2	2	2	2	1	0	2	0	1	0	7	8			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr6:49663637A>G	uc003ozn.2	-	9	752	c.516_splice	c.e9-1	p.A172_splice	CRISP2_uc003ozr.2_Splice_Site_p.A172_splice|CRISP2_uc003ozo.2_Splice_Site_p.A172_splice|CRISP2_uc003ozm.2_Splice_Site_p.S207_splice|CRISP2_uc003ozp.2_Splice_Site_p.A172_splice|CRISP2_uc003ozq.2_Splice_Site_p.A172_splice|CRISP2_uc003ozl.2_Splice_Site_p.A172_splice	NM_001142417	NP_003287	P16562	CRIS2_HUMAN	Homo sapiens cysteine-rich secretory protein 2 (CRISP2), transcript variant 4, mRNA.	172						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TATTATTACCACTGAAATTTG	0.348													12	25					0	0	0.080935	0	0	G	49663637	A	G	49663637	5	3	96	1	0	0	0	0	0	0	1	0	3880	173	6	3	223	3	CRISP2	6	49663637	Splice_Site	SNP	A	TCGA-DU-7299-01A-21D-2024-08		49663637	121451430	15	4217											
PRKAR1B	5575	broad.mit.edu	37	chr7	751125	751125	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcctcctccgaggggcaGgcgggcggggaggccatggc	4	5	19	13	4	0	0	0	0	0	0	4	2	3	1	4	8	0	1	4	8	0	0			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr7:751125G>C	uc003siu.2	-	1	151	c.18C>G	c.(16-18)gcC>gcG	p.A6A	PRKAR1B_uc021zyi.1_Silent_p.A6A|PRKAR1B_uc003siv.3_Silent_p.A6A|PRKAR1B_uc021zyj.1_Silent_p.A6A|PRKAR1B_uc021zyk.1_Silent_p.A6A|PRKAR1B_uc003siw.2_Silent_p.A6A	NM_002735	NP_002726	P31321	KAP1_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, beta (PRKAR1B), transcript variant 2, mRNA.	6	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		CCGAGGGGCAGGCGGGCGGGG	0.647													9	63					0	0	0.058154	0	0	C	751125	G	C	751125	2	2	96	1	0	0	0	0	0	0	0	1	12504	987	35	5		5	PRKAR1B	7	751125	Silent	SNP	G	TCGA-DU-7299-01A-21D-2024-08		751125	158387538	16	4218											
ZNF138	7697	broad.mit.edu	37	chr7	64291898	64291898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattctttccaaaaagtgaCactgagcagatatggaaaat	17	10	8	6	0	1	4	0	2	1	2	2	5	2	5	1	1	1	1	1	1	5	3			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr7:64291898C>T	uc011kdq.2	+	2	376	c.200C>T	c.(199-201)aCa>aTa	p.T67I	ZNF138_uc003ttg.3_Missense_Mutation_p.T36I|ZNF138_uc003tth.3_Non-coding_Transcript|ZNF138_uc010kzs.3_Missense_Mutation_p.T61I|ZNF138_uc011kdp.2_3'UTR	NM_006524	NP_006515	B4DP87	B4DP87_HUMAN	Homo sapiens zinc finger protein 138 (ZNF138), transcript variant 1, mRNA.	67					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				CAAAAAGTGACACTGAGCAGA	0.368													15	87					0	0	0.020292	0	0	T	64291898	C	T	64291898	3	4	96	1	0	0	0	0	1	0	0	0	17724	478	17	3	433	3	ZNF138	7	64291898	Missense_Mutation	SNP	C	TCGA-DU-7299-01A-21D-2024-08	63540773	64291898	94846765	17	4219											
PTPRZ1	5803	broad.mit.edu	37	chr7	121651754	121651754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgctgtccactactcatgCtgcttcagagacgctggaat	8	12	10	11	1	2	1	2	0	0	1	3	3	3	2	1	1	4	4	1	1	2	2			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr7:121651754C>T	uc003vjy.3	+	11	3049	c.2654C>T	c.(2653-2655)gCt>gTt	p.A885V	PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	885					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACTACTCATGCTGCTTCAGAG	0.473													3	53					0	0	0.004672	0	0	T	121651754	C	T	121651754	3	4	96	1	0	0	0	0	1	0	0	0	12814	797	28	3	2700	3	PTPRZ1	7	121651754	Missense_Mutation	SNP	C	TCGA-DU-7299-01A-21D-2024-08	57359856	121651754	37486909	18	4220											
SSPO	23145	broad.mit.edu	37	chr7	149489167	149489167	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctcagagccttgccctcaGgacggctgccccaatgccac	7	7	9	18	1	2	1	2	0	1	1	3	2	2	2	5	2	4	1	5	2	1	1			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr7:149489167G>A	uc010lpk.3	+	35	5403	c.5403G>A	c.(5401-5403)caG>caA	p.Q1801Q		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1804	TSP type-1 2.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTTGCCCTCAGGACGGCTGCC	0.627													32	49					0	0	0.069456	0	0	A	149489167	G	A	149489167	2	1	96	1	0	0	0	0	0	0	0	1	15188	991	35	3		3	SSPO	7	149489167	Silent	SNP	G	TCGA-DU-7299-01A-21D-2024-08	27837413	149489167	9649496	19	4221											
MFHAS1	9258	broad.mit.edu	37	chr8	8654899	8654899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacaggggctgatcacagtcGgcgtgggtgggtaaaccaag	11	6	16	8	2	1	1	1	1	0	0	2	1	1	1	1	5	2	2	1	5	4	1			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr8:8654899G>A	uc003wsj.1	-	1	3664	c.3101C>T	c.(3100-3102)cCg>cTg	p.P1034L		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	Homo sapiens malignant fibrous histiocytoma amplified sequence 1 (MFHAS1), mRNA.	1034								p.P1034P(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GATCACAGTCGGCGTGGGTGG	0.557													20	26					0	0	0.055883	0	0	A	8654899	G	A	8654899	3	1	96	1	0	0	0	0	1	0	0	0	9521	1116	39	2	65	2	MFHAS1	8	8654899	Missense_Mutation	SNP	G	TCGA-DU-7299-01A-21D-2024-08		8654899	137709123	20	4222											
CCDC6	8030	broad.mit.edu	37	chr10	61612347	61612349	+	In_Frame_Del	DEL	TTC	TTC	-																															gagagctcattagtgaggaaTtcttcttctttctcataatt																										TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr10:61612347_61612349delTTC	uc001jks.4	-	1	647_649	c.415_417delGAA	c.(415-417)gaadel	p.E139del		NM_005436	NP_005427	Q16204	CCDC6_HUMAN	Homo sapiens coiled-coil domain containing 6 (CCDC6), mRNA.	139	5 X 29 AA tandem repeats.					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton	p.E139delE(2)	CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		TAGTGAGGAATTCTTCTTCTTTC	0.36			T	RET	NSCLC								31	65	---	---	---	---						-	61612349	TTC	-	61612347	7	5	96	1	0	1	0	1	0	0	0	0	2830	1490	52	0	1039	0	CCDC6	10	61612347	In_Frame_Del	DEL	TTC	TCGA-DU-7299-01A-21D-2024-08		61612347	73922400	21	4223											
RHOD	29984	broad.mit.edu	37	chr11	66834308	66834308	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgaacagctttgacaacaTctttaaccgggtaggtactg	11	10	9	11	2	1	1	0	1	1	0	1	2	1	1	2	2	5	3	2	2	5	5			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr11:66834308T>C	uc001ojv.3	+	2	405	c.320T>C	c.(319-321)aTc>aCc	p.I107T		NM_014578	NP_055393	O00212	RHOD_HUMAN	Homo sapiens ras homolog gene family, member D (RHOD), mRNA.	107					Rho protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			lung(3)	3						TTTGACAACATCTTTAACCGG	0.607													49	90					0	0	0.048971	0	0	C	66834308	T	C	66834308	3	2	96	1	0	0	0	0	1	0	0	0	13337	1435	50	3	330	3	RHOD	11	66834308	Missense_Mutation	SNP	T	TCGA-DU-7299-01A-21D-2024-08		66834308	68172208	22	4224											
GPR162	27239	broad.mit.edu	37	chr12	6933476	6933476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagcaggcactgcatgccGtcatgggcatctggatggtc	9	8	14	10	1	2	1	1	0	1	1	3	2	2	2	1	4	3	4	1	4	1	0			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr12:6933476G>A	uc001qqw.1	+	1	947	c.412G>A	c.(412-414)Gtc>Atc	p.V138I	GPR162_uc010sfn.1_Missense_Mutation_p.V138I|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'Flank	NM_019858	NP_062832	Q16538	GP162_HUMAN	Homo sapiens G protein-coupled receptor 162 (GPR162), transcript variant A-2, mRNA.	138						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						ACTGCATGCCGTCATGGGCAT	0.612													29	118					0	0	0.037714	0	0	A	6933476	G	A	6933476	3	1	96	1	0	0	0	0	1	0	0	0	6666	1145	40	1	433	1	GPR162	12	6933476	Missense_Mutation	SNP	G	TCGA-DU-7299-01A-21D-2024-08		6933476	126918419	23	4225											
PHB2	11331	broad.mit.edu	37	chr12	7077659	7077659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacaatggacggcaacactCgttcctcgtagtccagccct	9	9	9	14	3	0	1	0	1	0	0	4	2	2	2	3	2	2	3	3	2	3	2			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr12:7077659C>T	uc021quf.1	-	3	602	c.392G>A	c.(391-393)cGa>cAa	p.R131Q	PHB2_uc021qug.1_Missense_Mutation_p.R131Q|PHB2_uc010sft.1_Missense_Mutation_p.R131Q|PHB2_uc010sfu.1_Missense_Mutation_p.R131Q|SCARNA12_uc001qsg.3_5'Flank	NM_007273	NP_001138303	Q99623	PHB2_HUMAN	Homo sapiens prohibitin 2 (PHB2), transcript variant 2, mRNA.	131					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						CGGCAACACTCGTTCCTCGTA	0.567													14	38					0	0	0.105934	0	0	T	7077659	C	T	7077659	3	4	96	1	0	0	0	0	1	0	0	0	11815	884	31	2	531	2	PHB2	12	7077659	Missense_Mutation	SNP	C	TCGA-DU-7299-01A-21D-2024-08	144183	7077659	126774236	24	4226											
PCDH9	5101	broad.mit.edu	37	chr13	67801664	67801665	+	Frame_Shift_Del	DEL	AA	AA	-																															ccagtagtattatttaaagcAaagagtcttttggttgcagg																										TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr13:67801664_67801665delAA	uc001vik.3	-	1	1600_1601	c.908_909delTT	c.(907-909)tttfs	p.F303fs	PCDH9_uc001vil.3_Frame_Shift_Del_p.F303fs|PCDH9_uc010thl.2_Frame_Shift_Del_p.F303fs|PCDH9_uc001vin.3_Frame_Shift_Del_p.F303fs	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	303	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TATTTAAAGCAAAGAGTCTTTT	0.465													37	62	---	---	---	---						-	67801665	AA	-	67801664	7	5	96	1	0	1	0	1	0	0	0	0	11518	127	5	0	2820	0	PCDH9	13	67801664	Frame_Shift_Del	DEL	AA	TCGA-DU-7299-01A-21D-2024-08		67801664	47368214	25	4227											
SLC25A21	89874	broad.mit.edu	37	chr14	37198737	37198737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctggtgacagtgacacatatCccagcaatttcttgtactgc	10	12	8	11	0	1	2	0	2	1	0	2	2	2	2	1	1	3	2	1	1	3	4			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr14:37198737C>T	uc001wtz.2	-	4	615	c.305G>A	c.(304-306)gGa>gAa	p.G102E	SLC25A21_uc021rsf.1_Missense_Mutation_p.G102E	NM_030631	NP_085134	Q9BQT8	ODC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21 (SLC25A21), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	102					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TGACACATATCCCAGCAATTT	0.318													11	17					0	0	0.09319	0	0	T	37198737	C	T	37198737	3	4	96	1	0	0	0	0	1	0	0	0	14484	855	30	3	623	3	SLC25A21	14	37198737	Missense_Mutation	SNP	C	TCGA-DU-7299-01A-21D-2024-08		37198737	70150803	26	4228											
ZC3H7A	29066	broad.mit.edu	37	chr16	11864798	11864799	+	Frame_Shift_Del	DEL	GA	GA	-																															tgccgaaaagggcatgctagGagagacactggctgtctgaa																										TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr16:11864798_11864799delGA	uc002dbk.3	-	8	1146_1147	c.948_949delTC	c.(946-951)tctcctfs	p.S316fs	ZC3H7A_uc002dbl.3_Frame_Shift_Del_p.S316fs|ZC3H7A_uc002dbm.2_Intron	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	Homo sapiens zinc finger CCCH-type containing 7A (ZC3H7A), mRNA.	316						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						GGCATGCTAGGAGAGACACTGG	0.485													29	80	---	---	---	---						-	11864799	GA	-	11864798	7	5	96	1	0	1	0	1	0	0	0	0	17569	1174	41	0	2022	0	ZC3H7A	16	11864798	Frame_Shift_Del	DEL	GA	TCGA-DU-7299-01A-21D-2024-08		11864798	78489955	27	4229											
ACSF3	197322	broad.mit.edu	37	chr16	89180844	89180844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggagcggtatggcatgaccGagatcggcatggctctgtcc	7	9	15	10	3	1	2	0	1	1	1	3	4	2	3	2	5	1	4	2	5	1	1	rs150487794	byFrequency	TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr16:89180844G>A	uc010cig.2	+	4	1283	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	ACSF3_uc010cih.2_Missense_Mutation_p.E94K|ACSF3_uc002fmp.3_Missense_Mutation_p.E359K|ACSF3_uc021tmq.1_Missense_Mutation_p.E359K|ACSF3_uc010cii.2_Non-coding_Transcript	NM_001127214	NP_777577	Q4G176	ACSF3_HUMAN	Homo sapiens acyl-CoA synthetase family member 3 (ACSF3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	359					fatty acid metabolic process	mitochondrion	ATP binding|acid-thiol ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		TGGCATGACCGAGATCGGCAT	0.637													4	94					0	0	0.009096	0	0	A	89180844	G	A	89180844	3	1	96	1	0	0	0	0	1	0	0	0	176	1059	37	2	1089	2	ACSF3	16	89180844	Missense_Mutation	SNP	G	TCGA-DU-7299-01A-21D-2024-08	77316046	89180844	1173909	28	4230											
TP53	7157	broad.mit.edu	37	chr17	7577105	7577105	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcgccggtctctcccaGgacaggcacaaacacgcacc	9	5	10	17	3	1	0	0	0	1	0	3	1	2	1	3	3	2	2	3	3	1	0			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:7577105G>A	uc002gim.2	-	7	1027	c.833C>T	c.(832-834)cCt>cTt	p.P278L	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.P278L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.P146L|TP53_uc010cnf.1_Missense_Mutation_p.P146L|TP53_uc002gii.1_Missense_Mutation_p.P146L|TP53_uc010cni.1_Missense_Mutation_p.P278L|TP53_uc010cnh.1_Missense_Mutation_p.P278L|TP53_uc002gij.2_Missense_Mutation_p.P278L|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.	278	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P278L(119)|p.P278R(58)|p.P278S(53)|p.P278H(25)|p.P278T(22)|p.C277F(22)|p.P278A(20)|p.C277Y(15)|p.0?(8)|p.P278F(7)|p.P278fs*67(7)|p.C277*(7)|p.C277G(5)|p.C277C(4)|p.A276_R283delACPGRDRR(2)|p.V274_P278del(2)|p.P278fs*28(2)|p.L265_K305del41(2)|p.C275_R283delCACPGRDRR(2)|p.?(2)|p.F270_D281del12(2)|p.C277W(2)|p.C277S(2)|p.V272_K292del21(2)|p.C277fs*29(2)|p.A276fs*64(1)|p.P278P(1)|p.C277_P278insXXXXXXX(1)|p.P278_G279insXXXXX(1)|p.S269fs*21(1)|p.A276_C277delAC(1)|p.C277R(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)		GTCTCTCCCAGGACAGGCACA	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	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)			37	8					0	0	0.059317	0	0	A	7577105	G	A	7577105	3	1	96	1	0	0	0	0	1	0	0	0	16378	1000	35	3	453	3	TP53	17	7577105	Missense_Mutation	SNP	G	TCGA-DU-7299-01A-21D-2024-08		7577105	73618105	29	4231											
PIK3R5	23533	broad.mit.edu	37	chr17	8789796	8789796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggcagggaggccttacctCggtctgatagacttgcagca	8	8	15	10	1	1	2	0	1	1	1	2	3	1	3	2	5	3	3	2	5	2	3			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:8789796C>T	uc002glt.3	-	12	2099	c.2032G>A	c.(2032-2034)Gag>Aag	p.E678K	PIK3R5_uc010vuz.2_Missense_Mutation_p.E678K|PIK3R5_uc021tqc.1_Missense_Mutation_p.E292K|PIK3R5_uc010cob.2_Missense_Mutation_p.E292K|PIK3R5_uc010coa.2_Missense_Mutation_p.E292K|PIK3R5_uc002glu.4_Missense_Mutation_p.E292K	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	678	Interaction with G beta gamma proteins (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GGCCTTACCTCGGTCTGATAG	0.667													7	52					0	0	0.02938	0	0	T	8789796	C	T	8789796	3	4	96	1	0	0	0	0	1	0	0	0	11922	893	31	2	638	2	PIK3R5	17	8789796	Missense_Mutation	SNP	C	TCGA-DU-7299-01A-21D-2024-08	1212691	8789796	72405414	30	4232											
NF1	4763	broad.mit.edu	37	chr17	29541467	29541468	+	Splice_Site	DEL	AG	AG	-																															catgtttttgttttgtttttAgagtcttacatttaaagaaa																										TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:29541467_29541468delAG	uc002hgg.3	+	13	1776	c.1393_splice	c.e13-1	p.S465_splice	NF1_uc002hge.2_Splice_Site_p.S465_splice|NF1_uc002hgf.2_Splice_Site_p.S465_splice|NF1_uc002hgh.3_Splice_Site_p.S465_splice|NF1_uc010csn.2_Splice_Site_p.S325_splice	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	465					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTTGTTTTTAGAGTCTTACAT	0.292			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			11	21	---	---	---	---						-	29541468	AG	-	29541467	8	5	96	1	0	1	0	1	0	0	1	0	10356	434	15	0	1441	0	NF1	17	29541467	Splice_Site	DEL	AG	TCGA-DU-7299-01A-21D-2024-08	20751671	29541467	51653743	31	4233											
NF1	4763	broad.mit.edu	37	chr17	29576134	29576134	+	Frame_Shift_Del	DEL	C	C	-																															agtgtgtgccactgtttataCcaggtatgcttacagttaga																										TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:29576134delC	uc002hgg.3	+	29	4490	c.4107delC	c.(4105-4107)tacfs	p.Y1369fs	NF1_uc002hgh.3_Frame_Shift_Del_p.Y1369fs|NF1_uc010csn.2_Frame_Shift_Del_p.Y1229fs|NF1_uc002hgi.1_Frame_Shift_Del_p.Y402fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1369	Ras-GAP.				MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACTGTTTATACCAGGTATGCT	0.403			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			22	93	---	---	---	---						-	29576134	C	-	29576134	7	5	96	1	0	1	0	1	0	0	0	0	10356	518	18	0	4286	0	NF1	17	29576134	Frame_Shift_Del	DEL	C	TCGA-DU-7299-01A-21D-2024-08	34667	29576134	51619076	32	4234											
CD300LG	146894	broad.mit.edu	37	chr17	41926022	41926022	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaagagctgagggaccaccGgaagtactggtgcaggaagg	12	4	18	7	1	0	2	0	1	0	1	0	6	0	6	2	6	3	3	2	6	4	1	rs115182680	by1000genomes	TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:41926022G>A	uc002iem.3	+	1	209	c.140G>A	c.(139-141)cGg>cAg	p.R47Q	CD300LG_uc002iel.2_Missense_Mutation_p.R47Q|CD300LG_uc010czk.3_Missense_Mutation_p.R47Q|CD300LG_uc010wil.2_Missense_Mutation_p.R47Q|CD300LG_uc010czl.3_Missense_Mutation_p.R47Q	NM_145273	NP_660316	Q6UXG3	CLM9_HUMAN	Homo sapiens CD300 molecule-like family member g (CD300LG), transcript variant 1, mRNA.	47	Ig-like V-type.					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGGGACCACCGGAAGTACTGG	0.577													5	78					0	0	0.014758	0	0	A	41926022	G	A	41926022	3	1	96	1	0	0	0	0	1	0	0	0	3002	1116	39	2	146	2	CD300LG	17	41926022	Missense_Mutation	SNP	G	TCGA-DU-7299-01A-21D-2024-08	12349888	41926022	39269188	33	4235											
MED13	9969	broad.mit.edu	37	chr17	60140577	60140579	+	In_Frame_Del	DEL	TCT	TCT	-																															taaaactgctcaaaatggggTcttcttctgtcacaggaaac																										TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:60140577_60140579delTCT	uc002izo.3	-	1	227_229	c.150_152delAGA	c.(148-153)gaagac>gac	p.E50del		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	50					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CAAAATGGGGTCTTCTTCTGTCA	0.443													12	140	---	---	---	---						-	60140579	TCT	-	60140577	7	5	96	1	0	1	0	1	0	0	0	0	9430	1667	58	0	6488	0	MED13	17	60140577	In_Frame_Del	DEL	TCT	TCGA-DU-7299-01A-21D-2024-08	18214555	60140577	21054633	34	4236											
DNAH17	8632	broad.mit.edu	37	chr17	76510921	76510921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggttctgcagctcgctcaCggcacgcagggacgtgatca	8	7	14	12	4	3	1	2	1	1	0	4	2	3	2	0	3	2	6	0	3	0	1			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:76510921C>T	uc010dhp.2	-	25	4173	c.4048G>A	c.(4048-4050)Gtg>Atg	p.V1350M		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)			AGCTCGCTCACGGCACGCAGG	0.612													27	41					0	0	0.030593	0	0	T	76510921	C	T	76510921	3	4	96	1	0	0	0	0	1	0	0	0	4601	536	19	1	9564	1	DNAH17	17	76510921	Missense_Mutation	SNP	C	TCGA-DU-7299-01A-21D-2024-08	16370344	76510921	4684289	35	4237											
GLTSCR1	29998	broad.mit.edu	37	chr19	48198169	48198171	+	In_Frame_Del	DEL	ATC	ATC	-																															ctcctcaggtgccgtccggaAtcatcctccagaacaaggct																										TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr19:48198169_48198171delATC	uc002phh.4	+	8	3102_3104	c.2908_2910delATC	c.(2908-2910)atcdel	p.I971del	GLTSCR1_uc002phi.4_In_Frame_Del_p.I729del	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	Homo sapiens glioma tumor suppressor candidate region gene 1 (GLTSCR1), mRNA.	971							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GCCGTCCGGAATCATCCTCCAGA	0.68													8	39	---	---	---	---						-	48198171	ATC	-	48198169	7	5	96	1	0	1	0	1	0	0	0	0	6474	101	4	0	2934	0	GLTSCR1	19	48198169	In_Frame_Del	DEL	ATC	TCGA-DU-7299-01A-21D-2024-08		48198169	10930814	36	4238											
MYT1	4661	broad.mit.edu	37	chr20	62839582	62839582	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgagtactctgttattgtgGaggtccgctcggatgatgac	7	13	13	8	2	1	3	0	3	1	0	3	5	2	5	1	3	1	3	1	3	2	3			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr20:62839582G>T	uc002yii.3	+	6	1397	c.1033G>T	c.(1033-1035)Gag>Tag	p.E345*	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	345					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TGTTATTGTGGAGGTCCGCTC	0.577													53	98					1.19258e-52	1.38231e-52	0.048971	1	0	T	62839582	G	T	62839582	4	4	96	1	0	0	0	0	0	1	0	0	10106	1175	41	5	1051	5	MYT1	20	62839582	Nonsense_Mutation	SNP	G	TCGA-DU-7299-01A-21D-2024-08		62839582	185938	37	4239											
SMARCB1	6598	broad.mit.edu	37	chr22	24175836	24175837	+	Frame_Shift_Del	DEL	CT	CT	-																															gtggtgcccactgctggagaCtctgacagacgctgagatgg																										TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr22:24175836_24175837delCT	uc002zyd.3	+	7	1298_1299	c.1091_1092delCT	c.(1090-1092)actfs	p.T364fs	SMARCB1_uc002zya.3_Intron|SMARCB1_uc002zyb.3_Frame_Shift_Del_p.T355fs|SMARCB1_uc002zyc.3_Frame_Shift_Del_p.T346fs	NM_001007468	NP_001007469	Q12824	SNF5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1), transcript variant 2, mRNA.	355					DNA integration|cell cycle|chromatin remodeling|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleolus|nucleoplasm	p53 binding	p.?(2)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CTGCTGGAGACTCTGACAGACG	0.634			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid							13	131	---	---	---	---						-	24175837	CT	-	24175836	7	5	96	1	0	1	0	1	0	0	0	0	14774	565	20	0	1094	0	SMARCB1	22	24175836	Frame_Shift_Del	DEL	CT	TCGA-DU-7299-01A-21D-2024-08		24175836	27128730	38	4240											
MGAT3	4248	broad.mit.edu	37	chr22	39883576	39883576	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgctgcgtaccccactctActcccactcgcccctgctgc	4	9	6	22	2	1	0	0	0	1	0	3	0	2	0	6	0	6	3	6	0	2	2			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr22:39883576A>G	uc003axv.4	+	1	463	c.224A>G	c.(223-225)tAc>tGc	p.Y75C	MGAT3_uc010gxy.3_Missense_Mutation_p.Y75C	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.	75	Pro-rich.				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					ACCCCACTCTACTCCCACTCG	0.672													23	75					0	0	0.062417	0	0	G	39883576	A	G	39883576	3	3	96	1	0	0	0	0	1	0	0	0	9544	391	14	3	226	3	MGAT3	22	39883576	Missense_Mutation	SNP	A	TCGA-DU-7299-01A-21D-2024-08	15707740	39883576	11420990	39	4241											
SLC35A2	7355	broad.mit.edu	37	chrX	48762551	48762552	+	Frame_Shift_Del	DEL	GA	GA	-																															agacacctgcgaagccggagGagagacaggaggccacgacg																										TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chrX:48762551_48762552delGA	uc011mmm.1	-	4	1040_1041	c.718_719delTC	c.(718-720)tccfs	p.S240fs	SLC35A2_uc004dlo.1_Frame_Shift_Del_p.S212fs|SLC35A2_uc011mml.1_Frame_Shift_Del_p.S225fs|SLC35A2_uc004dlp.1_Frame_Shift_Del_p.S212fs|SLC35A2_uc011mmn.1_Frame_Shift_Del_p.S151fs|SLC35A2_uc004dlq.3_Intron|SLC35A2_uc004dlr.1_Intron	NM_001042498	NP_001035963	P78381	S35A2_HUMAN	Homo sapiens solute carrier family 35 (UDP-galactose transporter), member A2 (SLC35A2), transcript variant 3, mRNA.	212					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	UDP-galactose transmembrane transporter activity|sugar:hydrogen symporter activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						GAAGCCGGAGGAGAGACAGGAG	0.649													5	5	---	---	---	---						-	48762552	GA	-	48762551	7	5	96	1	0	1	0	1	0	0	0	0	14571	1174	41	0	719	0	SLC35A2	23	48762551	Frame_Shift_Del	DEL	GA	TCGA-DU-7299-01A-21D-2024-08		48762551	106508009	40	4242											
NSDHL	50814	broad.mit.edu	37	chrX	152034375	152034375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccaggcagttctgggcGccaacgatcctgagaagaat	10	8	11	12	2	1	2	0	1	1	2	4	4	4	2	4	2	1	2	4	2	3	1			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chrX:152034375G>A	uc004fgt.1	+	6	817	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	NSDHL_uc004fgs.1_Missense_Mutation_p.A186T	NM_001129765	NP_057006	Q15738	NSDHL_HUMAN	Homo sapiens NAD(P) dependent steroid dehydrogenase-like (NSDHL), transcript variant 2, mRNA.	186					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|binding|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	AGTTCTGGGCGCCAACGATCC	0.582													4	89					0	0	0.009096	0	0	A	152034375	G	A	152034375	3	1	96	1	0	0	0	0	1	0	0	0	10670	1087	38	1	574	1	NSDHL	23	152034375	Missense_Mutation	SNP	G	TCGA-DU-7299-01A-21D-2024-08	103271824	152034375	3236185	41	4243											
RLF	6018	broad.mit.edu	37	chr1	40701977	40701978	+	Frame_Shift_Del	DEL	AA	AA	-																															tgacagatcagcataaggagAaaagagacaaaaaacctatt																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr1:40701977_40701978delAA	uc001cfc.4	+	7	1634_1635	c.1603_1604delAA	c.(1603-1605)aaafs	p.K535fs	RLF_uc001cfd.4_Frame_Shift_Del_p.K226fs	NM_012421	NP_036553	Q13129	RLF_HUMAN	Homo sapiens rearranged L-myc fusion (RLF), mRNA.	535					DNA integration|DNA mediated transformation|chromosome organization|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GCATAAGGAGAAAAGAGACAAA	0.356													29	31	---	---	---	---						-	40701978	AA	-	40701977	7	5	97	1	0	1	0	1	0	0	0	0	13389	247	9	0	1633	0	RLF	1	40701977	Frame_Shift_Del	DEL	AA	TCGA-DU-7300-01A-21D-2086-08		40701977	208548644	1	4244											
HIVEP3	59269	broad.mit.edu	37	chr1	42048876	42048876	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggagaggcacagggggggcGgtactgggcgggtgctggag	7	4	24	6	2	0	1	0	0	0	1	0	3	0	2	0	9	2	3	0	9	1	1			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr1:42048876G>A	uc001cgz.4	-	3	2806	c.1593C>T	c.(1591-1593)acC>acT	p.T531T	HIVEP3_uc001cha.4_Silent_p.T531T|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	531	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CAGGGGGGGCGGTACTGGGCG	0.607													3	63					0	0	1	0	0	A	42048876	G	A	42048876	2	1	97	1	0	0	0	0	0	0	0	1	7188	1103	39	2		2	HIVEP3	1	42048876	Silent	SNP	G	TCGA-DU-7300-01A-21D-2086-08	1346899	42048876	207201745	2	4245											
FUBP1	8880	broad.mit.edu	37	chr1	78433848	78433851	+	Splice_Site	DEL	CAGT	CAGT	-																															cagtttaaaaggaatacttaCagtcattttgaggagcaact																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr1:78433848_78433851delCAGT	uc001dii.3	-	3	339	c.250_splice	c.e3+1	p.S84_splice	FUBP1_uc001dih.4_Splice_Site|FUBP1_uc010orm.2_Splice_Site_p.S105_splice	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	84					transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	p.?(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GGAATACTTACAGTCATTTTGAGG	0.319			"F, N"		oligodendroglioma								8	14	---	---	---	---						-	78433851	CAGT	-	78433848	8	5	97	1	0	1	0	1	0	0	1	0	6092	492	17	0	1755	0	FUBP1	1	78433848	Splice_Site	DEL	CAGT	TCGA-DU-7300-01A-21D-2086-08	36384972	78433848	170816773	3	4246											
NBPF10	100132406	broad.mit.edu	37	chr1	144619903	144619903	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtgcagaaggctgaagTgagcaaagtccctgaggact	12	6	16	7	0	0	4	0	3	0	1	1	6	1	6	1	4	2	3	1	4	3	0	rs71527379	by1000genomes	TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr1:144619903T>A	uc009wig.1	+	6	775	c.581T>A	c.(580-582)gTg>gAg	p.V194E	NBPF10_uc010oxo.1_Missense_Mutation_p.V196E|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Missense_Mutation_p.V127E|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_5'UTR	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	196										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AAGGCTGAAGTGAGCAAAGTC	0.512													3	58					0	0	1	0	0	A	144619903	T	A	144619903	3	1	97	1	0	0	0	0	1	0	0	0	10193	1696	59	5		5	NBPF10	1	144619903	Missense_Mutation	SNP	T	TCGA-DU-7300-01A-21D-2086-08	66186055	144619903	104630718	4	4247											
OTOF	9381	broad.mit.edu	37	chr2	26686908	26686908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccaggcggcagcctgcgCgggggatgtcctcccagtgc	5	5	16	15	3	0	0	0	0	0	0	2	1	2	1	4	4	3	2	4	4	0	0	rs143889717		TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr2:26686908C>T	uc002rhk.3	-	39	5154	c.5027G>A	c.(5026-5028)cGc>cAc	p.R1676H	OTOF_uc010yla.2_Missense_Mutation_p.R406H|OTOF_uc002rhh.3_Missense_Mutation_p.R909H|OTOF_uc002rhi.3_Missense_Mutation_p.R986H|OTOF_uc002rhj.3_Missense_Mutation_p.R909H	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	1676					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGCCTGCGCGGGGGATGTC	0.667													63	148					0	0	1	0	0	T	26686908	C	T	26686908	3	4	97	1	0	0	0	0	1	0	0	0	11303	768	27	1	1179	1	OTOF	2	26686908	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08		26686908	216512465	5	4248											
ALMS1	7840	broad.mit.edu	37	chr2	73746974	73746976	+	In_Frame_Del	DEL	AAC	AAC	-																															tctgatgcagtcactcagatAacaacagaaagtccagaaaa																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr2:73746974_73746976delAAC	uc002sje.1	+	10	9720_9722	c.9609_9611delAAC	c.(9607-9612)ataaca>ata	p.T3205del	ALMS1_uc002sjf.1_In_Frame_Del_p.T3163del|ALMS1_uc002sjg.3_In_Frame_Del_p.T2593del|ALMS1_uc002sjh.1_In_Frame_Del_p.T2593del|ALMS1_uc010fev.1_In_Frame_Del_p.T22del	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	3205					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCACTCAGATAACAACAGAAAGT	0.384													12	42	---	---	---	---						-	73746976	AAC	-	73746974	7	5	97	1	0	1	0	1	0	0	0	0	535	352	13	0	9651	0	ALMS1	2	73746974	In_Frame_Del	DEL	AAC	TCGA-DU-7300-01A-21D-2086-08	47060066	73746974	169452399	6	4249											
TMEM131	23505	broad.mit.edu	37	chr2	98504555	98504555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtggctcaaatcgtatggGcctgcaattcccccggtaga	8	10	12	11	2	1	1	1	0	0	1	3	1	2	1	3	4	1	4	3	4	4	3			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr2:98504555G>A	uc002syh.4	-	3	548	c.319C>T	c.(319-321)Ccc>Tcc	p.P107S	TMEM131_uc010yvg.1_Non-coding_Transcript	NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	107						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AATCGTATGGGCCTGCAATTC	0.338													8	24					0	0	1	0	0	A	98504555	G	A	98504555	3	1	97	1	0	0	0	0	1	0	0	0	16041	1203	42	3	5484	3	TMEM131	2	98504555	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08	24757581	98504555	144694818	7	4250											
EPC2	26122	broad.mit.edu	37	chr2	149539217	149539218	+	Frame_Shift_Del	DEL	AG	AG	-																															tcatgttctttaccagtaacAgggggtatcacagaagagca																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr2:149539217_149539218delAG	uc010zbt.2	+	10	1752_1753	c.1725_1726delAG	c.(1723-1728)acagggfs	p.T575fs		NM_015630	NP_056445	Q52LR7	EPC2_HUMAN	Homo sapiens enhancer of polycomb homolog 2 (Drosophila) (EPC2), mRNA.	575					DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TACCAGTAACAGGGGGTATCAC	0.376													16	32	---	---	---	---						-	149539218	AG	-	149539217	7	5	97	1	0	1	0	1	0	0	0	0	5161	175	7	0	1767	0	EPC2	2	149539217	Frame_Shift_Del	DEL	AG	TCGA-DU-7300-01A-21D-2086-08	51034662	149539217	93660156	8	4251											
RIF1	55183	broad.mit.edu	37	chr2	152319418	152319418	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagcaaatggacagtgaCattgtcattcctcaagatgt	13	10	11	7	0	2	2	2	1	0	1	3	5	3	4	1	2	1	1	1	2	2	2			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr2:152319418C>T	uc002txm.3	+	29	3545	c.3384C>T	c.(3382-3384)gaC>gaT	p.D1128D	RIF1_uc002txn.3_Silent_p.D1128D|RIF1_uc002txl.3_Silent_p.D1128D|RIF1_uc002txo.3_Silent_p.D1128D|RIF1_uc002txp.3_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	1128					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGGACAGTGACATTGTCATTC	0.393													16	34					0	0	1	0	0	T	152319418	C	T	152319418	2	4	97	1	0	0	0	0	0	0	0	1	13359	477	17	3		3	RIF1	2	152319418	Silent	SNP	C	TCGA-DU-7300-01A-21D-2086-08	2780201	152319418	90879955	9	4252											
SCN2A	6326	broad.mit.edu	37	chr2	166170182	166170182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtagaaaccccaactatGgctacacgagctttgacacc	12	8	8	13	1	0	2	0	1	0	1	0	3	0	2	3	2	4	3	3	2	5	4			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr2:166170182G>A	uc002udc.3	+	8	1377	c.1087G>A	c.(1087-1089)Ggc>Agc	p.G363S	SCN2A_uc002udd.3_Missense_Mutation_p.G363S|SCN2A_uc002ude.3_Missense_Mutation_p.G363S	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	363					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CCCCAACTATGGCTACACGAG	0.433													29	60					0	0	1	0	0	A	166170182	G	A	166170182	3	1	97	1	0	0	0	0	1	0	0	0	13916	1348	47	3	1213	3	SCN2A	2	166170182	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08	13850764	166170182	77029191	10	4253											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								17	68					0	0	1	0	0	T	209113112	C	T	209113112	3	4	97	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08	42942930	209113112	34086261	11	4254											
ANKRD17	26057	broad.mit.edu	37	chr4	74012998	74012998	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actaactccaaatgaccctcTtgagcagcttccattaaagg	13	10	6	12	0	1	2	0	2	1	0	3	2	3	2	3	1	3	2	3	1	4	4			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr4:74012998T>C	uc003hgp.3	-	8	1836	c.1719A>G	c.(1717-1719)caA>caG	p.Q573Q	ANKRD17_uc003hgo.3_Silent_p.Q460Q|ANKRD17_uc003hgq.3_Silent_p.Q573Q|ANKRD17_uc003hgr.3_Silent_p.Q573Q|ANKRD17_uc011cbd.1_Intron	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	573					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	p.A572V(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AATGACCCTCTTGAGCAGCTT	0.398													43	75					0	0	1	0	0	C	74012998	T	C	74012998	2	2	97	1	0	0	0	0	0	0	0	1	646	1606	56	4		4	ANKRD17	4	74012998	Silent	SNP	T	TCGA-DU-7300-01A-21D-2086-08		74012998	117141278	12	4255											
ADH1C	126	broad.mit.edu	37	chr4	100263953	100263953	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgtcacggatcataccAtggtgtcaagccgaccgatg	10	8	12	11	3	3	0	3	0	0	0	3	3	3	1	3	3	2	1	3	3	2	1	rs78836241		TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr4:100263953A>G	uc021xqi.1	-	6		c.913_splice	c.e6+1			NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GGATCATACCATGGTGTCAAG	0.413													81	176					0	0	1	0	0	G	100263953	A	G	100263953	5	3	97	1	0	0	0	0	0	0	1	0	309	231	8	3	316	3	ADH1C	4	100263953	Splice_Site	SNP	A	TCGA-DU-7300-01A-21D-2086-08	26250955	100263953	90890323	13	4256											
TBCK	93627	broad.mit.edu	37	chr4	107229997	107229997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttttaaggatttgaaagcGccctaaaattttgatggaat	13	14	10	4	1	0	2	0	2	0	0	0	4	0	4	1	3	1	1	1	3	5	6			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr4:107229997G>A	uc010ilv.2	-	1	486	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	TBCK_uc003hye.2_Missense_Mutation_p.R41C|TBCK_uc003hyc.2_Missense_Mutation_p.R41C|TBCK_uc003hyd.2_5'UTR|TBCK_uc003hyf.2_Missense_Mutation_p.R41C	NM_001163435	NP_001156908	Q8TEA7	TBCK_HUMAN	Homo sapiens TBC1 domain containing kinase (TBCK), transcript variant 1, mRNA.	41	Protein kinase.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						ATTTGAAAGCGCCCTAAAATT	0.413													24	63					0	0	1	0	0	A	107229997	G	A	107229997	3	1	97	1	0	0	0	0	1	0	0	0	15633	1087	38	1	2660	1	TBCK	4	107229997	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08	6966044	107229997	83924279	14	4257											
SKIV2L2	23517	broad.mit.edu	37	chr5	54706365	54706367	+	In_Frame_Del	DEL	CTT	CTT	-																															attgtagtgctgatgagctcCttctaactgagatgatgttt																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr5:54706365_54706367delCTT	uc003jpy.4	+	22	2925_2927	c.2659_2661delCTT	c.(2659-2661)cttdel	p.L888del	SKIV2L2_uc011cqi.2_In_Frame_Del_p.L787del	NM_015360	NP_056175	P42285	SK2L2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like 2 (S. cerevisiae) (SKIV2L2), mRNA.	888					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TGATGAGCTCCTTCTAACTGAGA	0.35													31	105	---	---	---	---						-	54706367	CTT	-	54706365	7	5	97	1	0	1	0	1	0	0	0	0	14360	681	24	0	2749	0	SKIV2L2	5	54706365	In_Frame_Del	DEL	CTT	TCGA-DU-7300-01A-21D-2086-08		54706365	126208895	15	4258											
IPO11	51194	broad.mit.edu	37	chr5	61779947	61779949	+	In_Frame_Del	DEL	GAA	GAA	-																															ctcattatttcctattaactGaagaagaactgacaatgtgg																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr5:61779947_61779949delGAA	uc011cqr.2	+	10	1382_1384	c.1252_1254delGAA	c.(1252-1254)gaadel	p.E420del	IPO11_uc003jtc.3_In_Frame_Del_p.E380del	NM_001134779	NP_057422	Q9UI26	IPO11_HUMAN	Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA.	380						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		CCTATTAACTGAAGAAGAACTGA	0.33													18	43	---	---	---	---						-	61779949	GAA	-	61779947	7	5	97	1	0	1	0	1	0	0	0	0	7793	1291	45	0	1294	0	IPO11	5	61779947	In_Frame_Del	DEL	GAA	TCGA-DU-7300-01A-21D-2086-08	7073582	61779947	119135313	16	4259											
PIK3R1	5295	broad.mit.edu	37	chr5	67589550	67589552	+	In_Frame_Del	DEL	AAG	AAG	-																															tttctaggatcaagttgtcaAagaagataatattgaagctg																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr5:67589550_67589552delAAG	uc003jva.3	+	10	1893_1895	c.1313_1315delAAG	c.(1312-1317)aaagaa>aaa	p.E439del	PIK3R1_uc003jvc.3_In_Frame_Del_p.E139del|PIK3R1_uc003jvd.3_In_Frame_Del_p.E169del|PIK3R1_uc003jve.3_In_Frame_Del_p.E118del|PIK3R1_uc021xzn.1_In_Frame_Del_p.E76del|PIK3R1_uc011crb.2_In_Frame_Del_p.E109del	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	439					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.D434_Q475del(2)|p.0?(1)|p.?(1)|p.E439del(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAAGTTGTCAAAGAAGATAATAT	0.266			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			10	26	---	---	---	---						-	67589552	AAG	-	67589550	7	5	97	1	0	1	0	1	0	0	0	0	11918	14	1	0	1481	0	PIK3R1	5	67589550	In_Frame_Del	DEL	AAG	TCGA-DU-7300-01A-21D-2086-08	5809603	67589550	113325710	17	4260											
PIK3R1	5295	broad.mit.edu	37	chr5	67589623	67589624	+	Frame_Shift_Del	DEL	AT	AT	-																															tttcaagaaaaaagtcgagaAtatgatagattatatgaaga																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr5:67589623_67589624delAT	uc003jva.3	+	10	1966_1967	c.1386_1387delAT	c.(1384-1389)gaatatfs	p.E462fs	PIK3R1_uc003jvc.3_Frame_Shift_Del_p.E162fs|PIK3R1_uc003jvd.3_Frame_Shift_Del_p.E192fs|PIK3R1_uc003jve.3_Frame_Shift_Del_p.E141fs|PIK3R1_uc021xzn.1_Frame_Shift_Del_p.E99fs|PIK3R1_uc011crb.2_Frame_Shift_Del_p.E132fs	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	462					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.Y463fs*1(2)|p.E462_R465delEYDR(2)|p.Y463_L466del(2)|p.D434_Q475del(2)|p.T454_D464del(2)|p.D464fs*2(1)|p.0?(1)|p.?(1)|p.F456_R461>S(1)|p.F456_R461del(1)|p.R461*(1)|p.Y463C(1)|p.Q457_R461del(1)|p.E462*(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AAAGTCGAGAATATGATAGATT	0.287			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			17	37	---	---	---	---						-	67589624	AT	-	67589623	7	5	97	1	0	1	0	1	0	0	0	0	11918	98	4	0	1554	0	PIK3R1	5	67589623	Frame_Shift_Del	DEL	AT	TCGA-DU-7300-01A-21D-2086-08	73	67589623	113325637	18	4261											
HIST1H4E	8367	broad.mit.edu	37	chr6	26204972	26204972	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagggcattaccaagcctGccatccggcgccttgctcgt	6	9	10	16	3	0	0	0	0	0	0	3	0	2	0	6	2	4	2	6	2	2	2			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr6:26204972G>C	uc003ngy.3	+	0	100	c.100G>C	c.(100-102)Gcc>Ccc	p.A34P		NM_003545	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4e (HIST1H4E), mRNA.	34					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				TACCAAGCCTGCCATCCGGCG	0.577													4	100					0	0	1	0	0	C	26204972	G	C	26204972	3	2	97	1	0	0	0	0	1	0	0	0	7169	1319	46	5	102	5	HIST1H4E	6	26204972	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08		26204972	144910095	19	4262											
FRK	2444	broad.mit.edu	37	chr6	116381344	116381344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acaaagccacaaagtagtggCcatgcctctgtgactgggga	12	7	12	10	0	1	1	0	1	1	0	1	2	1	2	3	3	2	1	3	3	3	1			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr6:116381344C>T	uc003pwi.1	-	0	578	c.131G>A	c.(130-132)gGc>gAc	p.G44D		NM_002031	NP_002022	P42685	FRK_HUMAN	Homo sapiens fyn-related kinase (FRK), mRNA.	44	SH3.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		AAAGTAGTGGCCATGCCTCTG	0.517													6	157					0	0	1	0	0	T	116381344	C	T	116381344	3	4	97	1	0	0	0	0	1	0	0	0	6048	739	26	3	1418	3	FRK	6	116381344	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08	90176372	116381344	54733723	20	4263											
TCP1	6950	broad.mit.edu	37	chr6	160201521	160201523	+	In_Frame_Del	DEL	CTT	CTT	-																															acaaattctctcctgtaccaCttcttctgcctgtcccaaca																								rs147802495		TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr6:160201521_160201523delCTT	uc003qsr.3	-	8	1284_1286	c.1049_1051delAAG	c.(1048-1053)gaagtg>gtg	p.E350del	TCP1_uc003qss.3_In_Frame_Del_p.E195del|SNORA20_uc003qsu.1_5'Flank	NM_030752	NP_001008897	P17987	TCPA_HUMAN	Homo sapiens t-complex 1 (TCP1), transcript variant 1, mRNA.	350					'de novo' posttranslational protein folding|tubulin complex assembly	Golgi apparatus|cell junction	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		TCCTGTACCACTTCTTCTGCCTG	0.365													20	121	---	---	---	---						-	160201523	CTT	-	160201521	7	5	97	1	0	1	0	1	0	0	0	0	15706	565	20	0	635	0	TCP1	6	160201521	In_Frame_Del	DEL	CTT	TCGA-DU-7300-01A-21D-2086-08	43820177	160201521	10913546	21	4264											
KIF25	3834	broad.mit.edu	37	chr6	168440828	168440828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccccaccctggtgcacgCggattcctccaggtctcacc	6	7	9	19	2	1	0	1	0	1	0	4	1	3	1	6	3	1	2	6	3	0	1			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr6:168440828C>T	uc003qwk.1	+	5	840	c.578C>T	c.(577-579)gCg>gTg	p.A193V	KIF25_uc003qwl.1_Missense_Mutation_p.A193V	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA.	193	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.H192H(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CTGGTGCACGCGGATTCCTCC	0.572													16	48					0	0	1	0	0	T	168440828	C	T	168440828	3	4	97	1	0	0	0	0	1	0	0	0	8293	768	27	1	596	1	KIF25	6	168440828	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08	8239307	168440828	2674239	22	4265											
AEBP1	165	broad.mit.edu	37	chr7	44152194	44152196	+	In_Frame_Del	DEL	AGA	AGA	-																															ggccatcattgcctggatggAgaagaaccccttcgtgctgg																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr7:44152194_44152196delAGA	uc003tkb.3	+	17	2560_2562	c.2255_2257delAGA	c.(2254-2259)gagaag>gag	p.K753del	AEBP1_uc003tkc.4_In_Frame_Del_p.K328del|AEBP1_uc003tkd.3_In_Frame_Del_p.K3del	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	Homo sapiens AE binding protein 1 (AEBP1), mRNA.	753	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GCCTGGATGGAGAAGAACCCCTT	0.64													11	133	---	---	---	---						-	44152196	AGA	-	44152194	7	5	97	1	0	1	0	1	0	0	0	0	349	304	11	0	2325	0	AEBP1	7	44152194	In_Frame_Del	DEL	AGA	TCGA-DU-7300-01A-21D-2086-08		44152194	114986469	23	4266											
PKD1L1	168507	broad.mit.edu	37	chr7	47840379	47840379	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaatgaaacagcagcccGgggaaggcgtctgtgaaggt	13	5	16	7	2	1	2	0	2	1	0	1	4	1	4	1	5	3	1	1	5	5	0	rs138774842		TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr7:47840379G>A	uc003tny.2	-	53	8095	c.8061C>T	c.(8059-8061)ccC>ccT	p.P2687P	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2687					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACAGCAGCCCGGGGAAGGCGT	0.567													42	107					0	0	1	0	0	A	47840379	G	A	47840379	2	1	97	1	0	0	0	0	0	0	0	1	11964	1103	39	2		2	PKD1L1	7	47840379	Silent	SNP	G	TCGA-DU-7300-01A-21D-2086-08	3688185	47840379	111298284	24	4267											
KIAA1549	57670	broad.mit.edu	37	chr7	138603027	138603027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacggtcatgcacagagtctCggcaccatcccctgatccca	9	7	8	17	2	2	2	1	1	1	1	5	2	4	2	4	2	1	2	4	2	0	0			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr7:138603027C>T	uc011kql.2	-	1	1394	c.1345G>A	c.(1345-1347)Gag>Aag	p.E449K	KIAA1549_uc011kqj.2_Missense_Mutation_p.E449K	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	449						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CACAGAGTCTCGGCACCATCC	0.517			O	BRAF	pilocytic astrocytoma								10	102					0	0	1	0	0	T	138603027	C	T	138603027	3	4	97	1	0	0	0	0	1	0	0	0	8244	893	31	2	4583	2	KIAA1549	7	138603027	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08	90762648	138603027	20535636	25	4268											
ACTR3C	653857	broad.mit.edu	37	chr7	149990490	149990490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgtcgagatgtccaagatgCcgccaaggccagcactgcct	9	8	11	13	2	0	2	0	0	0	2	2	3	1	2	5	1	3	1	5	1	2	1			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr7:149990490C>T	uc003wgu.2	-	2	254	c.64G>A	c.(64-66)Gca>Aca	p.A22T	ACTR3C_uc022aps.1_Missense_Mutation_p.A22T	NM_001164459	NP_001157931	Q9C0K3	ARP3C_HUMAN	Homo sapiens ARP3 actin-related protein 3 homolog C (yeast) (ACTR3C), transcript variant 2, mRNA.	22					regulation of actin filament polymerization	cytoskeleton	ATP binding|actin binding										GTCCAAGATGCCGCCAAGGCC	0.507													3	20					0	0	1	0	0	T	149990490	C	T	149990490	3	4	97	1	0	0	0	0	1	0	0	0	214	739	26	3	588	3	ACTR3C	7	149990490	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08	11387463	149990490	9148173	26	4269											
CHRNA2	1135	broad.mit.edu	37	chr8	27321507	27321507	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcactgcaaactccccatcTgcactgagaagaggagagga	13	6	11	11	0	2	3	1	1	1	3	3	6	3	4	2	2	3	2	2	2	2	0			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr8:27321507T>G	uc010lur.3	-	5	1062	c.453A>C	c.(451-453)gcA>gcC	p.A151A	CHRNA2_uc011lal.2_Silent_p.A136A|CHRNA2_uc010lus.3_Intron	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 2 (neuronal) (CHRNA2), mRNA.	151						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	ACTCCCCATCTGCACTGAGAA	0.622													7	30					0	0	1	0	0	G	27321507	T	G	27321507	2	3	97	1	0	0	0	0	0	0	0	1	3383	1567	55	5		5	CHRNA2	8	27321507	Silent	SNP	T	TCGA-DU-7300-01A-21D-2086-08		27321507	119042515	27	4270											
PKHD1L1	93035	broad.mit.edu	37	chr8	110487479	110487479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaccaacatttcatatacatCgacattctatggattcaagg	15	12	5	9	1	3	0	2	0	1	0	4	2	3	1	1	2	3	0	1	2	6	6			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr8:110487479C>T	uc003yne.3	+	50	8842	c.8738C>T	c.(8737-8739)tCg>tTg	p.S2913L		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2913					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCATATACATCGACATTCTAT	0.338										HNSCC(38;0.096)			8	13					0	0	1	0	0	T	110487479	C	T	110487479	3	4	97	1	0	0	0	0	1	0	0	0	11972	893	31	2	8940	2	PKHD1L1	8	110487479	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08	83165972	110487479	35876543	28	4271											
ZHX2	22882	broad.mit.edu	37	chr8	123965332	123965333	+	Frame_Shift_Del	DEL	TT	TT	-																															cgtatcatgcgtacccagacTttgccccccagaagttcaaa																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr8:123965332_123965333delTT	uc022bag.1	+	0	1582_1583	c.1582_1583delTT	c.(1582-1584)tttfs	p.F528fs	ZHX2_uc003ypk.1_Frame_Shift_Del_p.F528fs	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	528						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GTACCCAGACTTTGCCCCCCAG	0.515													17	121	---	---	---	---						-	123965333	TT	-	123965332	7	5	97	1	0	1	0	1	0	0	0	0	17673	1609	56	0	1584	0	ZHX2	8	123965332	Frame_Shift_Del	DEL	TT	TCGA-DU-7300-01A-21D-2086-08	13477853	123965332	22398690	29	4272											
ROR2	4920	broad.mit.edu	37	chr9	94486807	94486807	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctctggggccatccagcGgataggcagcagcgagttcc	7	6	15	13	2	1	0	0	0	1	0	3	2	3	1	4	5	3	3	4	5	1	2			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr9:94486807G>A	uc004arj.2	-	8	2168	c.1969C>T	c.(1969-1971)Cgc>Tgc	p.R657C	ROR2_uc004ari.1_Missense_Mutation_p.R517C	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	657	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCCATCCAGCGGATAGGCAGC	0.572													3	40					0	0	1	0	0	A	94486807	G	A	94486807	3	1	97	1	0	0	0	0	1	0	0	0	13527	1116	39	2	866	2	ROR2	9	94486807	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08		94486807	46726624	30	4273											
CDC14B	8555	broad.mit.edu	37	chr9	99296274	99296274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctaggaattctttgacaatgGcatcagtaggggtgctgcca	10	11	12	8	0	2	1	1	1	1	0	2	2	2	2	1	4	2	3	1	4	4	4			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr9:99296274G>A	uc004awj.3	-	8	1333	c.881C>T	c.(880-882)gCc>gTc	p.A294V	CDC14B_uc004awk.3_Missense_Mutation_p.A294V|CDC14B_uc004awl.3_Non-coding_Transcript|CDC14B_uc004awi.3_Missense_Mutation_p.A257V	NM_033331	NP_201588	O60729	CC14B_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog B (S. cerevisiae) (CDC14B), transcript variant 2, mRNA.	294	B.				DNA repair|G2/M transition DNA damage checkpoint|activation of anaphase-promoting complex activity	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				TTTGACAATGGCATCAGTAGG	0.423													8	8					0	0	1	0	0	A	99296274	G	A	99296274	3	1	97	1	0	0	0	0	1	0	0	0	3057	1203	42	3	639	3	CDC14B	9	99296274	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08	4809467	99296274	41917157	31	4274											
NOTCH1	4851	broad.mit.edu	37	chr9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-																															gccatggggacactcgcagtAgaaggaggccacacggtcat																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr9:139413070_139413072delAGA	uc004chz.3	-	5	1070_1072	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	357	EGF-like 9; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.F357delF(6)|p.S356del(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			12	44	---	---	---	---						-	139413072	AGA	-	139413070	7	5	97	1	0	1	0	1	0	0	0	0	10547	420	15	0	6711	0	NOTCH1	9	139413070	In_Frame_Del	DEL	AGA	TCGA-DU-7300-01A-21D-2086-08	40116796	139413070	1800361	32	4275											
CACNA1B	774	broad.mit.edu	37	chr9	140953608	140953608	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatccatgttctccatggaAtgcgtgctgaagatcatcgc	10	11	9	11	2	2	2	1	1	1	1	5	3	3	3	2	1	2	2	2	1	2	1			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr9:140953608A>T	uc004cog.3	+	29	4696	c.4551A>T	c.(4549-4551)gaA>gaT	p.E1517D	CACNA1B_uc022bqn.1_Missense_Mutation_p.E1517D|CACNA1B_uc011mfd.2_Missense_Mutation_p.E1118D|CACNA1B_uc004coi.3_Missense_Mutation_p.E731D	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1517					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCTCCATGGAATGCGTGCTGA	0.507													4	43					0	0	1	0	0	T	140953608	A	T	140953608	3	4	97	1	0	0	0	0	1	0	0	0	2539	98	4	5	4669	5	CACNA1B	9	140953608	Missense_Mutation	SNP	A	TCGA-DU-7300-01A-21D-2086-08	1540538	140953608	259823	33	4276											
ITGA8	8516	broad.mit.edu	37	chr10	15559198	15559198	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttgtcagctgttccctgtCggtcatgtcctcctgaggag	5	14	11	11	1	2	1	2	1	0	0	6	2	5	2	3	2	1	2	3	2	0	2			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr10:15559198C>T	uc001ioc.1	-	29	3151	c.3151G>A	c.(3151-3153)Gac>Aac	p.D1051N	ITGA8_uc010qcb.1_Missense_Mutation_p.D1036N	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	1051					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TGTTCCCTGTCGGTCATGTCC	0.443													15	30					0	0	1	0	0	T	15559198	C	T	15559198	3	4	97	1	0	0	0	0	1	0	0	0	7882	884	31	2	44	2	ITGA8	10	15559198	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08		15559198	119975549	34	4277											
GALNTL4	374378	broad.mit.edu	37	chr11	11642953	11642953	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaggtggtccagccgctcaAtaatcttcagagtgtcccct	8	10	9	14	1	3	1	2	0	1	1	5	1	5	1	5	2	1	1	5	2	2	2			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr11:11642953A>G	uc001mjo.2	-	0	609	c.188T>C	c.(187-189)aTt>aCt	p.I63T		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA.	63						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		CAGCCGCTCAATAATCTTCAG	0.622													52	110					0	0	1	0	0	G	11642953	A	G	11642953	3	3	97	1	0	0	0	0	1	0	0	0	6223	101	4	3	1679	3	GALNTL4	11	11642953	Missense_Mutation	SNP	A	TCGA-DU-7300-01A-21D-2086-08		11642953	123363563	35	4278											
GIF	2694	broad.mit.edu	37	chr11	59611461	59611461	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggtttgggtaggctgaTgaagtcaccgagttctccat	7	12	14	8	1	2	2	1	2	1	0	3	3	2	2	2	4	0	4	2	4	2	3			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr11:59611461T>C	uc001noi.3	-	1	195	c.147A>G	c.(145-147)tcA>tcG	p.S49S	GIF_uc010rkz.1_Silent_p.S49S	NM_005142	NP_005133	P27352	IF_HUMAN	Homo sapiens gastric intrinsic factor (vitamin B synthesis) (GIF), mRNA.	49					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						GGTAGGCTGATGAAGTCACCG	0.522													14	51					0	0	1	0	0	C	59611461	T	C	59611461	2	2	97	1	0	0	0	0	0	0	0	1	6376	1451	51	3		3	GIF	11	59611461	Silent	SNP	T	TCGA-DU-7300-01A-21D-2086-08	47968508	59611461	75395055	36	4279											
RAD9A	5883	broad.mit.edu	37	chr11	67163284	67163286	+	In_Frame_Del	DEL	GAG	GAG	-																															tcatcctgcgcagctaccacGaggaggaggcaggtgagggg																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr11:67163284_67163286delGAG	uc001okr.3	+	5	640_642	c.547_549delGAG	c.(547-549)gagdel	p.E185del	RAD9A_uc021qmg.1_In_Frame_Del_p.E109del	NM_004584	NP_004575	Q99638	RAD9A_HUMAN	Homo sapiens RAD9 homolog A (S. pombe) (RAD9A), transcript variant 1, mRNA.	185					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|SH3 domain binding|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			CAGCTACCACGAGGAGGAGGCAG	0.66								Other conserved DNA damage response genes					18	54	---	---	---	---						-	67163286	GAG	-	67163284	7	5	97	1	0	1	0	1	0	0	0	0	12995	1059	37	0	569	0	RAD9A	11	67163284	In_Frame_Del	DEL	GAG	TCGA-DU-7300-01A-21D-2086-08	7551823	67163284	67843232	37	4280											
BTG4	54766	broad.mit.edu	37	chr11	111365994	111365994	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccaccacattctttttgcGggggatttgtaaccaagatt	9	14	9	9	1	1	1	0	0	1	1	2	2	2	2	3	2	2	1	3	2	2	6	rs140812937		TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr11:111365994G>A	uc001plj.3	-	4	756	c.556C>T	c.(556-558)Cgc>Tgc	p.R186C		NM_017589	NP_060059	Q9NY30	BTG4_HUMAN	Homo sapiens B-cell translocation gene 4 (BTG4), mRNA.	186					cell cycle arrest|negative regulation of cell proliferation|neuron differentiation			p.R186C(2)		large_intestine(2)|upper_aerodigestive_tract(1)	3		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)		TTCTTTTTGCGGGGGATTTGT	0.448													25	50					0	0	1	0	0	A	111365994	G	A	111365994	3	1	97	1	0	0	0	0	1	0	0	0	1556	1116	39	2	123	2	BTG4	11	111365994	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08	44202710	111365994	23640522	38	4281											
CNTN1	1272	broad.mit.edu	37	chr12	41333261	41333261	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagttttcatggagtaaaggGacagagtggcttgtcaatag	13	11	13	4	0	2	1	2	0	0	1	2	3	2	3	0	3	0	3	0	3	5	5			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr12:41333261G>A	uc001rmm.1	+	11	1466	c.1353G>A	c.(1351-1353)ggG>ggA	p.G451G	CNTN1_uc009zjy.2_Silent_p.G451G|CNTN1_uc001rmn.1_Silent_p.G440G|CNTN1_uc001rmo.3_Silent_p.G451G	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	451	Ig-like C2-type 5.				Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane		p.G451W(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GGAGTAAAGGGACAGAGTGGC	0.373													9	25					0	0	1	0	0	A	41333261	G	A	41333261	2	1	97	1	0	0	0	0	0	0	0	1	3640	1161	41	3		3	CNTN1	12	41333261	Silent	SNP	G	TCGA-DU-7300-01A-21D-2086-08		41333261	92518634	39	4282											
MPHOSPH8	54737	broad.mit.edu	37	chr13	20221185	20221185	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagtgctgaggaggatacCgatgtcagaggcaggaggaa	13	6	17	5	1	1	3	1	2	0	1	1	8	1	7	1	5	2	2	1	5	2	1			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr13:20221185C>T	uc001umh.3	+	2	1073	c.972C>T	c.(970-972)acC>acT	p.T324T	MPHOSPH8_uc001umg.3_Silent_p.T324T|MPHOSPH8_uc001umi.3_Silent_p.T21T	NM_017520	NP_059990	Q99549	MPP8_HUMAN	Homo sapiens M-phase phosphoprotein 8 (MPHOSPH8), mRNA.	324					cell cycle	cytoplasm|nucleus		p.T324T(2)		breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		AGGAGGATACCGATGTCAGAG	0.498													13	40					0	0	1	0	0	T	20221185	C	T	20221185	2	4	97	1	0	0	0	0	0	0	0	1	9727	639	23	2		2	MPHOSPH8	13	20221185	Silent	SNP	C	TCGA-DU-7300-01A-21D-2086-08		20221185	94948693	40	4283											
LATS2	26524	broad.mit.edu	37	chr13	21562426	21562426	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacgtccagcgggaaggcgCctgcgccgcccagcgccagg	6	2	15	18	6	0	0	0	0	0	0	1	1	1	1	6	3	3	0	6	3	1	0			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr13:21562426C>A	uc009zzs.3	-	3	1858	c.1493G>T	c.(1492-1494)gGc>gTc	p.G498V	LATS2_uc001unr.4_Missense_Mutation_p.G498V	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA.	498					G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CGGGAAGGCGCCTGCGCCGCC	0.766													6	7					0.000157383	0.00016188	1	1	0	A	21562426	C	A	21562426	3	1	97	1	0	0	0	0	1	0	0	0	8647	739	26	5	1793	5	LATS2	13	21562426	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08	1341241	21562426	93607452	41	4284											
PCNX	22990	broad.mit.edu	37	chr14	71443705	71443707	+	In_Frame_Del	DEL	CTT	CTT	-																															cgtcttgtctccaatgactcCttcatctctattcagccttc																								rs147408993	byFrequency	TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr14:71443705_71443707delCTT	uc001xmo.2	+	5	1097_1099	c.651_653delCTT	c.(649-654)tccttc>tcc	p.F218del	PCNX_uc001xmn.4_In_Frame_Del_p.F218del|PCNX_uc010are.1_In_Frame_Del_p.F218del	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	218						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CCAATGACTCCTTCATCTCTATT	0.414													7	113	---	---	---	---						-	71443707	CTT	-	71443705	7	5	97	1	0	1	0	1	0	0	0	0	11591	668	24	0	673	0	PCNX	14	71443705	In_Frame_Del	DEL	CTT	TCGA-DU-7300-01A-21D-2086-08		71443705	35905835	42	4285											
TTBK2	146057	broad.mit.edu	37	chr15	43045062	43045066	+	Frame_Shift_Del	DEL	ACTTA	ACTTA	-																															tcaatacaatgctgccctctActtaacttctcatcttcatt																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr15:43045062_43045066delACTTA	uc001zqo.2	-	13	2817_2821	c.2378_2382delTAAGT	c.(2377-2382)ttaagtfs	p.L793fs	TTBK2_uc010bcy.2_Frame_Shift_Del_p.L724fs	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	793					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GCTGCCCTCTACTTAACTTCTCATC	0.4													27	85	---	---	---	---						-	43045066	ACTTA	-	43045062	7	5	97	1	0	1	0	1	0	0	0	0	16674	388	14	0	1360	0	TTBK2	15	43045062	Frame_Shift_Del	DEL	ACTTA	TCGA-DU-7300-01A-21D-2086-08		43045062	59486330	43	4286											
IREB2	3658	broad.mit.edu	37	chr15	78764190	78764192	+	In_Frame_Del	DEL	CCT	CCT	-																															gtggtttttgaagaaaaagaCctcctcttcccagacagtgt																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr15:78764190_78764192delCCT	uc002bdr.2	+	6	969_971	c.807_809delCCT	c.(805-810)gacctc>gac	p.L271del	IREB2_uc010unb.1_In_Frame_Del_p.L21del|IREB2_uc002bdq.3_In_Frame_Del_p.L271del	NM_004136	NP_004127	P48200	IREB2_HUMAN	Homo sapiens iron-responsive element binding protein 2 (IREB2), mRNA.	271							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		AAGAAAAAGACCTCCTCTTCCCA	0.399													20	54	---	---	---	---						-	78764192	CCT	-	78764190	7	5	97	1	0	1	0	1	0	0	0	0	7826	506	18	0	833	0	IREB2	15	78764190	In_Frame_Del	DEL	CCT	TCGA-DU-7300-01A-21D-2086-08	35719128	78764190	23767202	44	4287											
CCDC113	29070	broad.mit.edu	37	chr16	58287907	58287907	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttgggttgcagtttcgAggcaggcgtagatccaaatc	8	12	12	9	2	1	1	0	0	1	1	5	2	2	1	1	3	1	5	1	3	2	4			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr16:58287907A>G	uc002ene.3	+	2	313	c.234A>G	c.(232-234)cgA>cgG	p.R78R	CCDC113_uc010vid.2_Intron	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN	Homo sapiens coiled-coil domain containing 113 (CCDC113), transcript variant 1, mRNA.	78						protein complex		p.R78Q(1)		large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						TGCAGTTTCGAGGCAGGCGTA	0.498													41	72					0	0	1	0	0	G	58287907	A	G	58287907	2	3	97	1	0	0	0	0	0	0	0	1	2750	291	11	4		4	CCDC113	16	58287907	Silent	SNP	A	TCGA-DU-7300-01A-21D-2086-08		58287907	32066846	45	4288											
ACADVL	37	broad.mit.edu	37	chr17	7125570	7125572	+	In_Frame_Del	DEL	AGG	AGG	-																															tccagccacaggagccgtgaAggagaagatcacagcttttg																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr17:7125570_7125572delAGG	uc002gev.3	+	8	978_980	c.827_829delAGG	c.(826-831)aaggag>aag	p.E277del	DLG4_uc002get.4_5'Flank|DLG4_uc010vto.2_5'Flank|ACADVL_uc010vtp.2_In_Frame_Del_p.E287del|ACADVL_uc010vtq.1_3'UTR|ACADVL_uc002gew.3_In_Frame_Del_p.E255del|ACADVL_uc002gex.3_In_Frame_Del_p.E201del	NM_000018	NP_000009	P49748	ACADV_HUMAN	Homo sapiens acyl-CoA dehydrogenase, very long chain (ACADVL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	277	Catalytic.				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						GGAGCCGTGAAGGAGAAGATCAC	0.552													25	75	---	---	---	---						-	7125572	AGG	-	7125570	7	5	97	1	0	1	0	1	0	0	0	0	116	72	3	0	861	0	ACADVL	17	7125570	In_Frame_Del	DEL	AGG	TCGA-DU-7300-01A-21D-2086-08		7125570	74069640	46	4289											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	5	11	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	0	2	rs28934574		TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr17:7577094G>A	uc002gim.2	-	7	1038	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W|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.	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(805)|p.R282G(57)|p.D281E(28)|p.D281N(26)|p.R282Q(24)|p.D281H(19)|p.R282P(16)|p.R282R(12)|p.D281Y(11)|p.D281G(10)|p.0?(8)|p.R282fs*24(7)|p.D281D(5)|p.D281fs*63(4)|p.D281V(4)|p.D281_R282>EW(4)|p.R282L(3)|p.A276_R283delACPGRDRR(2)|p.R282_E287delRRTEEE(2)|p.C275_R283delCACPGRDRR(2)|p.D281_R282insXX(2)|p.?(2)|p.L265_K305del41(2)|p.R282H(2)|p.R280_D281delRD(2)|p.V272_K292del21(2)|p.R282fs*63(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.S269fs*21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281>AGPY(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)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)			20	44					0	0	1	0	0	A	7577094	G	A	7577094	3	1	97	1	0	0	0	0	1	0	0	0	16378	1115	39	2	442	2	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08	451524	7577094	73618116	47	4290											
GFAP	2670	broad.mit.edu	37	chr17	42991175	42991175	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagatccagacgggccaggGtggcttcatctgcttcctgg	6	9	13	13	1	2	2	1	0	1	2	4	2	4	2	4	4	1	2	4	4	0	2			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr17:42991175G>T	uc021tyh.1	-	2	605	c.539C>A	c.(538-540)aCc>aAc	p.T180N	GFAP_uc002ihq.3_Missense_Mutation_p.T180N|GFAP_uc002ihr.3_Missense_Mutation_p.T180N|GFAP_uc010wjg.2_Non-coding_Transcript	NM_001242376	NP_001229305	P14136	GFAP_HUMAN	Homo sapiens glial fibrillary acidic protein (GFAP), transcript variant 3, mRNA.	180	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				ACGGGCCAGGGTGGCTTCATC	0.622													65	97					4.09166e-32	4.5323e-32	1	1	0	T	42991175	G	T	42991175	3	4	97	1	0	0	0	0	1	0	0	0	6337	1261	44	5	916	5	GFAP	17	42991175	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08	35414081	42991175	38204035	48	4291											
BAHCC1	57597	broad.mit.edu	37	chr17	79428907	79428909	+	In_Frame_Del	DEL	CAG	CAG	-																															accggtgcgggctcaggcccCagcagcagcagcaaatccaa																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr17:79428907_79428909delCAG	uc002kaf.2	+	24	7032_7034	c.7032_7034delCAG	c.(7030-7035)cccagc>ccc	p.S2348del	BAHCC1_uc002kae.2_In_Frame_Del_p.S1640del	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	2410	Ser-rich.						DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			GCTCAGGCCCCAGCAGCAGCAGC	0.69													2	4	---	---	---	---						-	79428909	CAG	-	79428907	7	5	97	1	0	1	0	1	0	0	0	0	1296	581	21	0	7151	0	BAHCC1	17	79428907	In_Frame_Del	DEL	CAG	TCGA-DU-7300-01A-21D-2086-08	36437732	79428907	1766303	49	4292											
TSHZ1	10194	broad.mit.edu	37	chr18	72997649	72997651	+	In_Frame_Del	DEL	AGA	AGA	-																															aggctcttcctctcgagaagAgaaggaggatccgcagtgtc																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr18:72997649_72997651delAGA	uc002lly.3	+	1	715_717	c.152_154delAGA	c.(151-156)gagaag>gag	p.K52del	TSHZ1_uc021uln.1_In_Frame_Del_p.K52del	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	97						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		TCTCGAGAAGAGAAGGAGGATCC	0.586													14	32	---	---	---	---						-	72997651	AGA	-	72997649	7	5	97	1	0	1	0	1	0	0	0	0	16620	304	11	0	154	0	TSHZ1	18	72997649	In_Frame_Del	DEL	AGA	TCGA-DU-7300-01A-21D-2086-08		72997649	5079599	50	4293											
ELANE	1991	broad.mit.edu	37	chr19	852925	852925	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccggcgagcgcggccccaCgcgtggcccttcatggtgtc	3	6	16	16	6	1	0	1	0	0	0	2	1	1	0	4	5	1	0	4	5	0	1			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr19:852925C>T	uc002lqb.3	+	1	155	c.117C>T	c.(115-117)caC>caT	p.H39H		NM_001972	NP_001963	P08246	ELNE_HUMAN	Homo sapiens elastase, neutrophil expressed (ELANE), mRNA.	39	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of interleukin-8 biosynthetic process|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CGCGGCCCCACGCGTGGCCCT	0.721													6	22					0	0	1	0	0	T	852925	C	T	852925	2	4	97	1	0	0	0	0	0	0	0	1	5048	535	19	1		1	ELANE	19	852925	Silent	SNP	C	TCGA-DU-7300-01A-21D-2086-08		852925	58276058	51	4294											
PKN1	5585	broad.mit.edu	37	chr19	14557260	14557260	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccggaagctgctgctgacagCccagcagatgttgcaggaca	10	6	13	12	1	0	2	0	1	0	1	0	4	0	4	2	2	6	6	2	2	1	1			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr19:14557260C>A	uc002myp.3	+	3	665	c.497C>A	c.(496-498)gCc>gAc	p.A166D	PKN1_uc002myq.3_Missense_Mutation_p.A172D	NM_002741	NP_002732	Q16512	PKN1_HUMAN	Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.	166					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CTGCTGACAGCCCAGCAGATG	0.612													6	126					3.59834e-05	3.75479e-05	1	1	0	A	14557260	C	A	14557260	3	1	97	1	0	0	0	0	1	0	0	0	11979	739	26	5	554	5	PKN1	19	14557260	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08	13704335	14557260	44571723	52	4295											
LRP3	4037	broad.mit.edu	37	chr19	33696671	33696671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcctaccgcagcaaccaccGgcccgtgagcctggaggccg	7	4	13	17	4	0	1	0	1	0	0	1	2	1	2	7	3	4	2	7	3	2	1			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr19:33696671G>A	uc010edh.3	+	4	1088	c.995G>A	c.(994-996)cGg>cAg	p.R332Q	LRP3_uc010xrp.1_Missense_Mutation_p.R206Q|LRP3_uc002nuk.4_Missense_Mutation_p.R206Q	NM_002333	NP_002324	O75074	LRP3_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 3 (LRP3), mRNA.	332	CUB 2.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					AGCAACCACCGGCCCGTGAGC	0.706													9	1					0	0	1	0	0	A	33696671	G	A	33696671	3	1	97	1	0	0	0	0	1	0	0	0	8958	1116	39	2	1013	2	LRP3	19	33696671	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08	19139411	33696671	25432312	53	4296											
EID2B	126272	broad.mit.edu	37	chr19	40023078	40023081	+	Frame_Shift_Del	DEL	ACAA	ACAA	-																															ccctcgccttgcagccttccAcaaacagcctgcggcgttcc																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr19:40023078_40023081delACAA	uc002olz.1	-	0	414_417	c.362_365delTTGT	c.(361-366)tttgtgfs	p.F121fs		NM_152361	NP_689574	Q96D98	EID2B_HUMAN	Homo sapiens EP300 interacting inhibitor of differentiation 2B (EID2B), mRNA.	121					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(1)|lung(1)|urinary_tract(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCAGCCTTCCACAAACAGCCTGCG	0.574													18	45	---	---	---	---						-	40023081	ACAA	-	40023078	7	5	97	1	0	1	0	1	0	0	0	0	4988	159	6	0	124	0	EID2B	19	40023078	Frame_Shift_Del	DEL	ACAA	TCGA-DU-7300-01A-21D-2086-08	6326407	40023078	19105905	54	4297											
PRX	57716	broad.mit.edu	37	chr19	40899883	40899883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actaggggcttcagacagccGcagcctgagccccctccatc	8	6	10	17	1	1	2	1	1	0	1	3	2	2	2	5	2	3	2	5	2	1	2			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr19:40899883G>A	uc002onr.3	-	6	4645	c.4376C>T	c.(4375-4377)gCg>gTg	p.A1459V	PRX_uc002onq.3_Missense_Mutation_p.A1320V|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	1459					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCAGACAGCCGCAGCCTGAGC	0.617													3	51					0	0	1	0	0	A	40899883	G	A	40899883	3	1	97	1	0	0	0	0	1	0	0	0	12642	1087	38	1	13	1	PRX	19	40899883	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08	876805	40899883	18229100	55	4298											
LILRA1	11024	broad.mit.edu	37	chr19	55105741	55105741	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcacagtcctgatctgtcTcagtgagatttgaagaggga	10	11	12	8	1	3	4	2	3	2	2	5	6	4	5	1	1	0	0	1	1	1	1			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr19:55105741T>A	uc002qgh.1	+	1	214	c.32T>A	c.(31-33)cTc>cAc	p.L11H	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Missense_Mutation_p.L11H	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	11					cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTGATCTGTCTCAGTGAGATT	0.587													51	62					0	0	1	0	0	A	55105741	T	A	55105741	3	1	97	1	0	0	0	0	1	0	0	0	8784	1551	54	5	34	5	LILRA1	19	55105741	Missense_Mutation	SNP	T	TCGA-DU-7300-01A-21D-2086-08	14205858	55105741	4023242	56	4299											
TRIM28	10155	broad.mit.edu	37	chr19	59061018	59061021	+	Splice_Site	DEL	GTGA	GTGA	-																															gccctgcaggatgtaccaggGtgagtgtgaggctggtgggg																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr19:59061018_59061021delGTGA	uc002qtg.1	+	13	2271	c.1982_splice	c.e13+1	p.G661_splice	TRIM28_uc010eut.1_Splice_Site_p.G579_splice|TRIM28_uc002qth.1_Splice_Site_p.G276_splice	NM_005762	NP_005753	Q13263	TIF1B_HUMAN	Homo sapiens tripartite motif containing 28 (TRIM28), mRNA.	661					epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		ATGTACCAGGGTGAGTGTGAGGCT	0.574													87	141	---	---	---	---						-	59061021	GTGA	-	59061018	8	5	97	1	0	1	0	1	0	0	1	0	16499	1275	44	0	2033	0	TRIM28	19	59061018	Splice_Site	DEL	GTGA	TCGA-DU-7300-01A-21D-2086-08	3955277	59061018	67965	57	4300											
DNAJC28	54943	broad.mit.edu	37	chr21	34860571	34860571	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taataaatttccacagattcAtccagtttaaaaaacctttc	16	14	2	9	0	1	1	1	0	0	1	4	1	3	1	3	0	1	1	3	0	6	7			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr21:34860571A>T	uc021wim.1	-	0	1130	c.1130T>A	c.(1129-1131)aTg>aAg	p.M377K	DNAJC28_uc002yrv.3_Missense_Mutation_p.M377K|DNAJC28_uc002yrw.3_Missense_Mutation_p.M377K	NM_017833	NP_060303	Q9NX36	DJC28_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 28 (DNAJC28), transcript variant 1, mRNA.	377				LIVPILTRQKVHFDAQKEIVRAQKIYETLIKTKEVTDRNPN NLDQGEGEKTPEIKKGFLNWMNLWKFIKIRSF -> CSHPD QAKSPF (in Ref. 2; BAA91185).			heat shock protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						CCACAGATTCATCCAGTTTAA	0.299													8	20					0	0	1	0	0	T	34860571	A	T	34860571	3	4	97	1	0	0	0	0	1	0	0	0	4646	217	8	5	40	5	DNAJC28	21	34860571	Missense_Mutation	SNP	A	TCGA-DU-7300-01A-21D-2086-08		34860571	13269324	58	4301											
COL6A1	1291	broad.mit.edu	37	chr21	47409674	47409674	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgggtgtgtagggagaaaaAgggagccgtggggagaaggt	11	6	21	3	1	0	2	0	0	0	2	0	5	0	3	1	6	1	1	1	6	4	1			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr21:47409674A>G	uc002zhu.1	+	10	1014	c.912A>G	c.(910-912)aaA>aaG	p.K304K		NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	304	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AGGGAGAAAAAGGGAGCCGTG	0.637													3	111					0	0	1	0	0	G	47409674	A	G	47409674	2	3	97	1	0	0	0	0	0	0	0	1	3699	69	3	4		4	COL6A1	21	47409674	Silent	SNP	A	TCGA-DU-7300-01A-21D-2086-08	12549103	47409674	720221	59	4302											
HDAC10	83933	broad.mit.edu	37	chr22	50689416	50689416	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttactcgtcccagagcaGccgggtggccgtcatgtcct	6	9	11	15	3	1	1	1	0	0	1	4	1	3	1	4	2	3	1	4	2	1	1			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr22:50689416G>T	uc003bkg.3	-	0	419	c.46C>A	c.(46-48)Ctg>Atg	p.L16M	HDAC10_uc010hav.3_Missense_Mutation_p.L16M|HDAC10_uc003bkh.3_5'UTR|HDAC10_uc003bkj.3_Non-coding_Transcript|HDAC10_uc003bkk.1_5'Flank|MAPK12_uc003bko.2_3'UTR|MAPK12_uc003bkm.1_3'UTR|MAPK12_uc003bkl.1_3'UTR	NM_032019	NP_114408	Q969S8	HDA10_HUMAN	Homo sapiens histone deacetylase 10 (HDAC10), transcript variant 1, mRNA.	16	Histone deacetylase.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCCCAGAGCAGCCGGGTGGCC	0.667													27	41					7.01153e-11	7.64895e-11	1	1	0	T	50689416	G	T	50689416	3	4	97	1	0	0	0	0	1	0	0	0	7005	962	34	5	2043	5	HDAC10	22	50689416	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08		50689416	615150	60	4303											
ARSF	416	broad.mit.edu	37	chrX	3021883	3021883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaaaggtaccagctggaCggttgattaaggaacctaca	13	8	12	8	1	0	1	0	1	0	0	0	4	0	4	2	5	4	3	2	5	5	4	rs141853880	byFrequency	TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:3021883C>T	uc022brz.1	+	8	1319	c.1183C>T	c.(1183-1185)Cgg>Tgg	p.R395W	ARSF_uc004cre.2_Missense_Mutation_p.R395W|ARSF_uc004crf.2_Missense_Mutation_p.R395W	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	395						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACCAGCTGGACGGTTGATTAA	0.478													36	80					0	0	1	0	0	T	3021883	C	T	3021883	3	4	97	1	0	0	0	0	1	0	0	0	991	527	19	1	1213	1	ARSF	23	3021883	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08		3021883	152248677	61	4304											
WWC3	55841	broad.mit.edu	37	chrX	10085535	10085535	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctccctgcctcacgggactCgccgctggcgcagctggcgg	3	6	14	18	5	1	0	1	0	0	0	3	1	2	1	4	4	2	3	4	4	0	0			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:10085535C>T	uc004csx.4	+	10	1634	c.1436C>T	c.(1435-1437)tCg>tTg	p.S479L	WWC3_uc010nds.3_Missense_Mutation_p.S143L|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	479										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TCACGGGACTCGCCGCTGGCG	0.706													7	16					0	0	1	0	0	T	10085535	C	T	10085535	3	4	97	1	0	0	0	0	1	0	0	0	17410	893	31	2	1474	2	WWC3	23	10085535	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08	7063652	10085535	145185025	62	4305											
RPS6KA3	6197	broad.mit.edu	37	chrX	20205954	20205954	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaaccttaccattaacaCaccaaaagaccaccagtcag	17	7	3	14	0	2	1	2	0	0	1	2	1	2	1	5	0	3	0	5	0	5	3			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:20205954C>A	uc004czu.3	-	8	766	c.766G>T	c.(766-768)Gtg>Ttg	p.V256L	RPS6KA3_uc011mjk.2_Missense_Mutation_p.V227L|RPS6KA3_uc004czv.3_Missense_Mutation_p.V244L|RPS6KA3_uc011mjl.2_Missense_Mutation_p.V228L|RPS6KA3_uc011mjm.2_Missense_Mutation_p.V228L	NM_004586	NP_004577	P51812	KS6A3_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 3 (RPS6KA3), mRNA.	256	Protein kinase 1.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|central nervous system development|innate immune response|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity	p.V256M(2)		breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						ACCATTAACACACCAAAAGAC	0.388													68	189					1.10345e-40	1.24139e-40	1	1	0	A	20205954	C	A	20205954	3	1	97	1	0	0	0	0	1	0	0	0	13652	478	17	5	1512	5	RPS6KA3	23	20205954	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08	10120419	20205954	135064606	63	4306											
ZNF630	57232	broad.mit.edu	37	chrX	47918328	47918328	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctctggtgtatgataagAggtgatttctgagagaagga	12	13	13	3	0	2	5	0	3	2	2	3	7	2	6	0	3	0	1	0	3	3	4			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:47918328A>C	uc004div.4	-	4	1755	c.1503T>G	c.(1501-1503)ccT>ccG	p.P501P	ZNF630_uc010nhz.1_Intron|ZNF630_uc022bvr.1_Silent_p.P487P|ZNF630_uc022bvs.1_Silent_p.P501P	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN	Homo sapiens zinc finger protein 630 (ZNF630), transcript variant 1, mRNA.	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						GTATGATAAGAGGTGATTTCT	0.413													32	42					0	0	1	0	0	C	47918328	A	C	47918328	2	2	97	1	0	0	0	0	0	0	0	1	18051	291	11	5		5	ZNF630	23	47918328	Silent	SNP	A	TCGA-DU-7300-01A-21D-2086-08	27712374	47918328	107352232	64	4307											
TFE3	7030	broad.mit.edu	37	chrX	48887870	48887870	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggtctcccaggtcccccagGtggtcgctgggaaagtgcag	6	7	16	12	1	1	0	0	0	1	0	4	1	2	1	3	5	1	2	3	5	1	0			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:48887870G>T	uc004dmb.3	-	9	1765	c.1527C>A	c.(1525-1527)caC>caA	p.H509Q	TFE3_uc004dmc.3_Missense_Mutation_p.H404Q	NM_006521	NP_006512	P19532	TFE3_HUMAN	Homo sapiens transcription factor binding to IGHM enhancer 3 (TFE3), mRNA.	509					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GGTCCCCCAGGTGGTCGCTGG	0.672			T	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"	"papillary renal, alveolar soft part sarcoma, renal"								16	127					8.10497e-08	8.70982e-08	1	1	0	T	48887870	G	T	48887870	3	4	97	1	0	0	0	0	1	0	0	0	15797	1252	44	5	204	5	TFE3	23	48887870	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08	969542	48887870	106382690	65	4308											
PAGE1	8712	broad.mit.edu	37	chrX	49458759	49458760	+	Frame_Shift_Del	DEL	TT	TT	-																															agcaggtgtagaatcctgacTttgagttggtgattccactt																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:49458759_49458760delTT	uc004dom.3	-	2	241_242	c.108_109delAA	c.(106-111)caaagtfs	p.Q36fs		NM_003785	NP_003776	O75459	GAGB1_HUMAN	Homo sapiens P antigen family, member 1 (prostate associated) (PAGE1), mRNA.	36					cellular defense response					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					GAATCCTGACTTTGAGTTGGTG	0.46													9	13	---	---	---	---						-	49458760	TT	-	49458759	7	5	97	1	0	1	0	1	0	0	0	0	11389	1609	56	0	347	0	PAGE1	23	49458759	Frame_Shift_Del	DEL	TT	TCGA-DU-7300-01A-21D-2086-08	570889	49458759	105811801	66	4309											
IRS4	8471	broad.mit.edu	37	chrX	107978402	107978402	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctggtgaaaagcatctcGtcttccccgtcgccgatggc	6	9	11	15	5	2	1	0	1	2	0	5	2	3	1	4	2	1	1	4	2	2	1			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:107978402G>A	uc004eoc.2	-	0	1206	c.1173C>T	c.(1171-1173)gaC>gaT	p.D391D		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	391						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AAAGCATCTCGTCTTCCCCGT	0.652													42	86					0	0	1	0	0	A	107978402	G	A	107978402	2	1	97	1	0	0	0	0	0	0	0	1	7842	1136	40	1		1	IRS4	23	107978402	Silent	SNP	G	TCGA-DU-7300-01A-21D-2086-08	58519643	107978402	47292158	67	4310											
HS6ST2	90161	broad.mit.edu	37	chrX	132091353	132091353	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctcatccatgttcccgaCgctgggggaaacccaagctc	8	10	9	14	2	1	0	1	0	1	0	5	2	3	1	3	2	2	3	3	2	2	2			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:132091353C>T	uc011mvd.1	-	3	845	c.429_splice	c.e3-1	p.S143_splice	HS6ST2_uc011mvb.1_5'UTR|HS6ST2_uc011mvc.1_Splice_Site|HS6ST2_uc011mve.1_Splice_Site_p.S143_splice	NM_001077188	NP_001070656	Q96MM7	H6ST2_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 2 (HS6ST2), transcript variant L, mRNA.	143						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					ATGTTCCCGACGCTGGGGGAA	0.627													10	46					0	0	1	0	0	T	132091353	C	T	132091353	5	4	97	1	0	0	0	0	0	0	1	0	7371	550	19	1	1523	1	HS6ST2	23	132091353	Splice_Site	SNP	C	TCGA-DU-7300-01A-21D-2086-08	24112951	132091353	23179207	68	4311											
GPR50	9248	broad.mit.edu	37	chrX	150349612	150349612	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagcccaccactgctgaCtatcccaagcctgccactac	9	7	7	18	0	0	2	0	2	0	0	1	2	1	2	5	0	5	2	5	0	3	2			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:150349612C>A	uc010ntg.2	+	1	1695	c.1557C>A	c.(1555-1557)gaC>gaA	p.D519E		NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	519	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CCACTGCTGACTATCCCAAGC	0.617													76	179					1.19347e-43	1.36397e-43	1	1	0	A	150349612	C	A	150349612	3	1	97	1	0	0	0	0	1	0	0	0	6697	564	20	5	1563	5	GPR50	23	150349612	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08	18258259	150349612	4920948	69	4312											
ATP2B3	492	broad.mit.edu	37	chrX	152827614	152827614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcatcgtccagtttggcGggaagcccttcagctgctcc	5	12	11	13	2	2	0	2	0	0	0	5	1	4	1	3	2	3	3	3	2	1	3			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:152827614G>A	uc004fht.1	+	17	3199	c.3073G>A	c.(3073-3075)Ggg>Agg	p.G1025R	ATP2B3_uc004fhs.1_Missense_Mutation_p.G1025R|ATP2B3_uc010nuf.1_Missense_Mutation_p.G48R|ATP2B3_uc004fhu.1_5'UTR	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	1025					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	p.G1025W(4)|p.G1011W(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGTTTGGCGGGAAGCCCTT	0.612													6	395					0	0	1	0	0	A	152827614	G	A	152827614	3	1	97	1	0	0	0	0	1	0	0	0	1141	1116	39	2	3143	2	ATP2B3	23	152827614	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08	2478002	152827614	2442946	70	4313											
OR4F5	79501	broad.mit.edu	37	chr1	69454	69454	+	Frame_Shift_Del	DEL	C	C	-																															gatatatagcaatatgcaagCccctacactacactacaatt																										TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:69454delC	uc001aal.1	+	0	364	c.364delC	c.(364-366)cccfs	p.P122fs		NM_001005484	NP_001005484	Q8NH21	OR4F5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 5 (OR4F5), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)|ovary(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;3.48e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.21e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AATATGCAAGCCCCTACACTA	0.478													2	4	---	---	---	---						-	69454	C	-	69454	7	5	98	1	0	1	0	1	0	0	0	0	11065	739	26	0	366	0	OR4F5	1	69454	Frame_Shift_Del	DEL	C	TCGA-DU-7301-01A-11D-2086-08		69454	249181167	1	4314											
FAM132A	388581	broad.mit.edu	37	chr1	1179654	1179654	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggggaccgaagagatccCgctggggggagagagaagca	11	3	19	8	2	0	3	0	0	0	3	1	8	1	4	2	5	1	2	2	5	2	0			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:1179654C>T	uc001adl.2	-	3	327	c.295_splice	c.e3-1	p.R99_splice		NM_001014980	NP_001014980	Q5T7M4	F132A_HUMAN	Homo sapiens family with sequence similarity 132, member A (FAM132A), mRNA.	99						extracellular region				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GAAGAGATCCCGCTGGGGGGA	0.672													3	44					0	0	1	0	0	T	1179654	C	T	1179654	5	4	98	1	0	0	0	0	0	0	1	0	5442	666	23	2	636	2	FAM132A	1	1179654	Splice_Site	SNP	C	TCGA-DU-7301-01A-11D-2086-08	1110200	1179654	248070967	2	4315											
MYOM3	127294	broad.mit.edu	37	chr1	24392470	24392470	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaccactgaaagcgagTctccttcttggtgttggtca	10	11	11	9	1	3	2	1	1	2	1	4	4	3	2	2	2	2	1	2	2	3	3			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:24392470T>C	uc001bin.4	-	28	3608	c.3445A>G	c.(3445-3447)Act>Gct	p.T1149A	MYOM3_uc001bil.4_Missense_Mutation_p.T42A|MYOM3_uc001bim.4_Missense_Mutation_p.T806A|MYOM3_uc001bio.3_Missense_Mutation_p.T1149A	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	1149	Ig-like C2-type 3.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGAAAGCGAGTCTCCTTCTTG	0.517													5	160					0	0	1	0	0	C	24392470	T	C	24392470	3	2	98	1	0	0	0	0	1	0	0	0	10093	1667	58	3	904	3	MYOM3	1	24392470	Missense_Mutation	SNP	T	TCGA-DU-7301-01A-11D-2086-08	23212816	24392470	224858151	3	4316											
DOCK7	85440	broad.mit.edu	37	chr1	62995074	62995074	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagtcgtgactggagagtaAattgtgtaccatattgatga	12	13	12	4	1	0	5	0	4	0	1	1	6	0	5	1	1	1	2	1	1	4	5			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:62995074A>G	uc001daq.3	-	29	3689	c.3655T>C	c.(3655-3657)Tta>Cta	p.L1219L	DOCK7_uc001dan.3_Silent_p.L1080L|DOCK7_uc001dao.3_Silent_p.L1080L|DOCK7_uc001dap.3_Silent_p.L1188L|DOCK7_uc001dam.3_Silent_p.L399L|DOCK7_uc010oov.1_Silent_p.L47L	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	1219					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CTGGAGAGTAAATTGTGTACC	0.408													35	58					0	0	1	0	0	G	62995074	A	G	62995074	2	3	98	1	0	0	0	0	0	0	0	1	4692	11	1	3		3	DOCK7	1	62995074	Silent	SNP	A	TCGA-DU-7301-01A-11D-2086-08	38602604	62995074	186255547	4	4317											
NOTCH2	4853	broad.mit.edu	37	chr1	120491679	120491680	+	Frame_Shift_Del	DEL	CT	CT	-																															taactctcaaaatttggtgaCtctttgcaaacagcagcatt																										TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:120491679_120491680delCT	uc001eik.3	-	15	2846_2847	c.2549_2550delAG	c.(2548-2550)gagfs	p.E850fs	NOTCH2_uc001eil.3_Frame_Shift_Del_p.E850fs	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	850	EGF-like 22.				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.E850*(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATTTGGTGACTCTTTGCAAAC	0.431			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome		OREG0013733	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	201	---	---	---	---						-	120491680	CT	-	120491679	7	5	98	1	0	1	0	1	0	0	0	0	10548	564	20	0	4941	0	NOTCH2	1	120491679	Frame_Shift_Del	DEL	CT	TCGA-DU-7301-01A-11D-2086-08	57496605	120491679	128758942	5	4318											
NOTCH2	4853	broad.mit.edu	37	chr1	120497724	120497725	+	Frame_Shift_Ins	INS	-	-	T																															ctcaggcattcgttcacctgINStgagtagcagctggggtgat																										TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:120497724_120497725insT	uc001eik.3	-	12	2454_2455	c.2157_2158insA	c.(2155-2160)tcacagfs	p.S719fs	NOTCH2_uc001eil.3_Frame_Shift_Ins_p.S719fs|NOTCH2_uc021osy.1_Frame_Shift_Ins_p.S680fs|NOTCH2_uc001eim.4_Frame_Shift_Ins_p.S636fs	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	719					Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCGTTCACCTGTGAGTAGCAGC	0.535			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				9	141	---	---	---	---						T	120497725	-	T	120497724	7	5	98	1	0	1	1	0	0	0	0	0	10548	1386	48	0	5345	0	NOTCH2	1	120497724	Frame_Shift_Ins	INS	-	TCGA-DU-7301-01A-11D-2086-08	6045	120497724	128752897	6	4319											
CCDC19	25790	broad.mit.edu	37	chr1	159842834	159842834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcaaaggtggcaatccGgttctgcacttccttctgct	6	13	8	14	1	3	0	1	0	2	0	6	0	6	0	3	3	2	4	3	3	2	3	rs148876212	byFrequency	TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:159842834G>A	uc001fui.3	-	10	1495	c.1477C>T	c.(1477-1479)Cgg>Tgg	p.R493W	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Missense_Mutation_p.R408W|CCDC19_uc001fuj.3_Non-coding_Transcript	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	493						mitochondrion|soluble fraction		p.R493R(1)		endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GTGGCAATCCGGTTCTGCACT	0.597													7	99					0	0	1	0	0	A	159842834	G	A	159842834	3	1	98	1	0	0	0	0	1	0	0	0	2795	1115	39	2	186	2	CCDC19	1	159842834	Missense_Mutation	SNP	G	TCGA-DU-7301-01A-11D-2086-08	39345110	159842834	89407787	7	4320											
PPFIA4	8497	broad.mit.edu	37	chr1	203025938	203025938	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaggatcagggcagcaaccCcagcagcagcaacagcagcc	13	1	13	14	0	1	0	1	0	0	0	1	2	1	2	3	3	8	6	3	3	2	0			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:203025938C>G	uc009xaj.3	+	23	2642	c.2642C>G	c.(2641-2643)cCc>cGc	p.P881R	PPFIA4_uc010pqf.2_Missense_Mutation_p.P463R|PPFIA4_uc001gyz.3_Missense_Mutation_p.P250R|PPFIA4_uc001gza.3_Missense_Mutation_p.P250R|PPFIA4_uc001gzb.1_5'UTR			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	250					cell communication	cell surface|cytoplasm	protein binding	p.P881T(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GGCAGCAACCCCAGCAGCAGC	0.562													4	11					0	0	1	0	0	G	203025938	C	G	203025938	3	3	98	1	0	0	0	0	1	0	0	0	12312	623	22	5	771	5	PPFIA4	1	203025938	Missense_Mutation	SNP	C	TCGA-DU-7301-01A-11D-2086-08	43183104	203025938	46224683	8	4321											
WDR33	55339	broad.mit.edu	37	chr2	128477431	128477431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaagtgaccctgagggccaGgcgggccttgggggcctatg	6	6	17	12	1	0	2	0	2	0	0	0	2	0	2	5	5	0	0	5	5	2	2			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr2:128477431G>A	uc002tpg.2	-	15	2367	c.2168C>T	c.(2167-2169)cCt>cTt	p.P723L		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	723	Collagen-like.				postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTGAGGGCCAGGCGGGCCTTG	0.632													5	81					0	0	1	0	0	A	128477431	G	A	128477431	3	1	98	1	0	0	0	0	1	0	0	0	17284	1000	35	3	1870	3	WDR33	2	128477431	Missense_Mutation	SNP	G	TCGA-DU-7301-01A-11D-2086-08		128477431	114721942	9	4322											
NEB	4703	broad.mit.edu	37	chr2	152383461	152383461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattaaagtattcctgagggCgagcaccgtgtttttgtcat	9	15	10	7	2	1	1	1	1	0	0	2	2	2	1	2	1	1	3	2	1	4	6			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr2:152383461C>T	uc021vrb.1	-	118	16842	c.16813G>A	c.(16813-16815)Gcc>Acc	p.A5605T	NEB_uc002txr.3_Missense_Mutation_p.A2071T|NEB_uc002txu.3_Missense_Mutation_p.A7306T|NEB_uc021vrc.1_Missense_Mutation_p.A7306T|NEB_uc010fnx.3_Missense_Mutation_p.A5593T|NEB_uc021vrd.1_Missense_Mutation_p.A5605T|NEB_uc002txt.4_Missense_Mutation_p.A110T	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	5605					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle	p.L5604L(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCCTGAGGGCGAGCACCGTG	0.463													6	9					0	0	1	0	0	T	152383461	C	T	152383461	3	4	98	1	0	0	0	0	1	0	0	0	10302	768	27	1	3801	1	NEB	2	152383461	Missense_Mutation	SNP	C	TCGA-DU-7301-01A-11D-2086-08	23906030	152383461	90815912	10	4323											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								35	74					0	0	1	0	0	T	209113112	C	T	209113112	3	4	98	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7301-01A-11D-2086-08	56729651	209113112	34086261	11	4324											
GOLGA4	2803	broad.mit.edu	37	chr3	37369109	37369109	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaaaagtccaaatcacAtttggtccaacccaaattgc	16	9	6	10	0	1	2	1	1	0	1	3	2	3	2	3	1	2	0	3	1	6	2			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr3:37369109A>G	uc003cgv.3	+	13	6092	c.5732A>G	c.(5731-5733)cAt>cGt	p.H1911R	GOLGA4_uc010hgr.2_Missense_Mutation_p.H1472R|GOLGA4_uc003cgw.3_Missense_Mutation_p.H1933R|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Missense_Mutation_p.H1792R	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	1911	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TCCAAATCACATTTGGTCCAA	0.403													49	51					0	0	1	0	0	G	37369109	A	G	37369109	3	3	98	1	0	0	0	0	1	0	0	0	6555	217	8	3	5856	3	GOLGA4	3	37369109	Missense_Mutation	SNP	A	TCGA-DU-7301-01A-11D-2086-08		37369109	160653321	12	4325											
DHX30	22907	broad.mit.edu	37	chr3	47888021	47888023	+	In_Frame_Del	DEL	ATC	ATC	-																															gaggtgcccgctgcaatgttAtcatcacccaacctcgccgc																										TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr3:47888021_47888023delATC	uc003cru.3	+	10	1885_1887	c.1459_1461delATC	c.(1459-1461)atcdel	p.I488del	DHX30_uc003crt.3_In_Frame_Del_p.I449del	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	488	Helicase ATP-binding.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CTGCAATGTTATCATCACCCAAC	0.65													64	167	---	---	---	---						-	47888023	ATC	-	47888021	7	5	98	1	0	1	0	1	0	0	0	0	4504	449	16	0	1504	0	DHX30	3	47888021	In_Frame_Del	DEL	ATC	TCGA-DU-7301-01A-11D-2086-08	10518912	47888021	150134409	13	4326											
SLC7A11	23657	broad.mit.edu	37	chr4	139144383	139144386	+	Frame_Shift_Del	DEL	TAAT	TAAT	-																															ctgcataactccagggactaTaattatcagaattgctgtga																										TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr4:139144383_139144386delTAAT	uc021xrw.1	-	3	893_896	c.613_616delATTA	c.(613-618)attatafs	p.I205fs		NM_014331	NP_055146	Q9UPY5	XCT_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 (SLC7A11), mRNA.	205					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	CCAGGGACTATAATTATCAGAATT	0.387													7	91	---	---	---	---						-	139144386	TAAT	-	139144383	7	5	98	1	0	1	0	1	0	0	0	0	14694	1406	49	0	925	0	SLC7A11	4	139144383	Frame_Shift_Del	DEL	TAAT	TCGA-DU-7301-01A-11D-2086-08		139144383	52009893	14	4327											
FSTL5	56884	broad.mit.edu	37	chr4	162697089	162697089	+	Frame_Shift_Del	DEL	T	T	-																															tgcatcaaaatatttaaacaTttgatccaccaatagcttct																										TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr4:162697089delT	uc003iqh.3	-	4	983	c.547delA	c.(547-549)atgfs	p.M183fs	FSTL5_uc003iqi.3_Frame_Shift_Del_p.M182fs|FSTL5_uc010iqv.3_Frame_Shift_Del_p.M182fs	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	183	EF-hand 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TATTTAAACATTTGATCCACC	0.284													47	27	---	---	---	---						-	162697089	T	-	162697089	7	5	98	1	0	1	0	1	0	0	0	0	6080	1493	52	0	2044	0	FSTL5	4	162697089	Frame_Shift_Del	DEL	T	TCGA-DU-7301-01A-11D-2086-08	23552706	162697089	28457187	15	4328											
AMACR	23600	broad.mit.edu	37	chr5	33989379	33989379	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgcagggcgggggctcAcgtcctgctcctcactggtg	4	8	17	12	2	2	0	2	0	0	0	4	1	4	0	2	5	2	3	2	5	0	0			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr5:33989379A>G	uc003jij.3	-	4	1064	c.968T>C	c.(967-969)gTg>gCg	p.V323A	AMACR_uc003jig.3_Missense_Mutation_p.V323A|AMACR_uc003jih.3_3'UTR	NM_001167595	NP_001161067	Q9UHK6	AMACR_HUMAN	Homo sapiens alpha-methylacyl-CoA racemase (AMACR), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	323					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity	p.D322D(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						GCGGGGGCTCACGTCCTGCTC	0.507													42	82					0	0	1	0	0	G	33989379	A	G	33989379	3	3	98	1	0	0	0	0	1	0	0	0	562	159	6	3	242	3	AMACR	5	33989379	Missense_Mutation	SNP	A	TCGA-DU-7301-01A-11D-2086-08		33989379	146925881	16	4329											
OR10C1	442194	broad.mit.edu	37	chr6	29408070	29408070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggccggcgccacatctctcGctctggatgtgctctccaga	5	10	11	15	3	3	1	0	0	3	1	6	2	3	2	3	3	1	2	3	3	0	0			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr6:29408070G>A	uc011dlp.2	+	0	355	c.278G>A	c.(277-279)cGc>cAc	p.R93H	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R93C(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CACATCTCTCGCTCTGGATGT	0.587													51	65					0	0	1	0	0	A	29408070	G	A	29408070	3	1	98	1	0	0	0	0	1	0	0	0	10898	1087	38	1	280	1	OR10C1	6	29408070	Missense_Mutation	SNP	G	TCGA-DU-7301-01A-11D-2086-08		29408070	141706997	17	4330											
ZNF425	155054	broad.mit.edu	37	chr7	148809259	148809259	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactttccagtattcttcaTgttcaactgttcatcagtag	10	16	5	10	0	5	0	4	0	1	0	6	0	6	0	1	0	2	4	1	0	4	7			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr7:148809259T>A	uc003wfj.3	-	2	407	c.274A>T	c.(274-276)Atg>Ttg	p.M92L		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	92					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GTATTCTTCATGTTCAACTGT	0.363													16	177					0	0	1	0	0	A	148809259	T	A	148809259	3	1	98	1	0	0	0	0	1	0	0	0	17896	1464	51	5	1992	5	ZNF425	7	148809259	Missense_Mutation	SNP	T	TCGA-DU-7301-01A-11D-2086-08		148809259	10329404	18	4331											
UNC5D	137970	broad.mit.edu	37	chr8	35583683	35583683	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttaccaggtaactccctgctCctgaattctgccatgcagcc	8	11	7	15	0	1	1	0	1	1	0	3	1	3	1	5	1	6	3	5	1	3	3			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr8:35583683C>T	uc003xjr.2	+	9	1645	c.1317C>T	c.(1315-1317)ctC>ctT	p.L439L	UNC5D_uc003xjs.2_Silent_p.L434L|UNC5D_uc003xju.2_Silent_p.L15L|UNC5D_uc003xjt.1_Silent_p.L197L	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	439					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ACTCCCTGCTCCTGAATTCTG	0.502													8	129					0	0	1	0	0	T	35583683	C	T	35583683	2	4	98	1	0	0	0	0	0	0	0	1	16992	842	30	3		3	UNC5D	8	35583683	Silent	SNP	C	TCGA-DU-7301-01A-11D-2086-08		35583683	110780339	19	4332											
FBXO43	286151	broad.mit.edu	37	chr8	101146458	101146458	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctagaggtgtcaaaacttcTccccagggagataatgttga	12	10	11	8	0	2	3	1	1	1	2	3	4	2	3	2	2	1	2	2	2	4	4			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr8:101146458T>C	uc003yjd.3	-	3	2545	c.1809A>G	c.(1807-1809)ggA>ggG	p.G603G	FBXO43_uc003yje.3_Silent_p.G569G	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.	603					meiosis		zinc ion binding	p.G569V(2)|p.G569G(2)|p.G603G(1)|p.G603V(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TCAAAACTTCTCCCCAGGGAG	0.408													58	57					0	0	1	0	0	C	101146458	T	C	101146458	2	2	98	1	0	0	0	0	0	0	0	1	5752	1538	54	4		4	FBXO43	8	101146458	Silent	SNP	T	TCGA-DU-7301-01A-11D-2086-08	65562775	101146458	45217564	20	4333											
ABRA	137735	broad.mit.edu	37	chr8	107782084	107782084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cataagtcttgctgaccaccGttttggacacctctttcttt	7	16	6	12	1	3	1	0	1	3	0	3	2	3	2	3	1	1	2	3	1	1	6	rs113926734		TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr8:107782084G>A	uc003ymm.4	-	0	389	c.335C>T	c.(334-336)aCg>aTg	p.T112M		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	Homo sapiens actin-binding Rho activating protein (ABRA), mRNA.	112					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GCTGACCACCGTTTTGGACAC	0.547													5	124					0	0	1	0	0	A	107782084	G	A	107782084	3	1	98	1	0	0	0	0	1	0	0	0	100	1145	40	1	818	1	ABRA	8	107782084	Missense_Mutation	SNP	G	TCGA-DU-7301-01A-11D-2086-08	6635626	107782084	38581938	21	4334											
LAMC3	10319	broad.mit.edu	37	chr9	133942444	133942444	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtgccagtgtagcgggaaCgtggaccccaatgccgtggg	8	6	16	11	3	0	0	0	0	0	0	0	2	0	2	4	3	4	1	4	3	3	1	rs145571152	byFrequency	TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr9:133942444C>T	uc004caa.1	+	13	2543	c.2445C>T	c.(2443-2445)aaC>aaT	p.N815N		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	815	Laminin EGF-like 8.				cell adhesion	basement membrane|membrane	structural molecule activity	p.G814R(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GTAGCGGGAACGTGGACCCCA	0.647													5	39					0	0	1	0	0	T	133942444	C	T	133942444	2	4	98	1	0	0	0	0	0	0	0	1	8616	535	19	1		1	LAMC3	9	133942444	Silent	SNP	C	TCGA-DU-7301-01A-11D-2086-08		133942444	7270987	22	4335											
NOTCH1	4851	broad.mit.edu	37	chr9	139393364	139393365	+	Frame_Shift_Del	DEL	AT	AT	-																															cgctcaccctgttgttctgcAtatctttgttagccccgttc																										TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr9:139393364_139393365delAT	uc004chz.3	-	32	6166_6167	c.6166_6167delAT	c.(6166-6168)atgfs	p.M2056fs		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	2056					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.M2057fs*211(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTTGTTCTGCATATCTTTGTTA	0.609			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			8	313	---	---	---	---						-	139393365	AT	-	139393364	7	5	98	1	0	1	0	1	0	0	0	0	10547	217	8	0	1508	0	NOTCH1	9	139393364	Frame_Shift_Del	DEL	AT	TCGA-DU-7301-01A-11D-2086-08	5450920	139393364	1820067	23	4336											
PDE6C	5146	broad.mit.edu	37	chr10	95385365	95385365	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggccaatcaagcttggaGaagtagagccttataaaggt	15	9	11	6	0	1	2	1	0	0	2	1	3	1	2	2	3	2	2	2	3	8	4			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr10:95385365G>T	uc001kiu.4	+	4	1036	c.898G>T	c.(898-900)Gaa>Taa	p.E300*		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	300	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	p.V301_E302del(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				CAAGCTTGGAGAAGTAGAGCC	0.413													6	43					0.000157383	0.000161525	1	1	0	T	95385365	G	T	95385365	4	4	98	1	0	0	0	0	0	1	0	0	11647	943	33	5	916	5	PDE6C	10	95385365	Nonsense_Mutation	SNP	G	TCGA-DU-7301-01A-11D-2086-08		95385365	40149382	24	4337											
OR4A16	81327	broad.mit.edu	37	chr11	55111136	55111136	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattggaggttttgtgcacTctgtggttcaaattgtcttt	6	19	11	5	0	3	1	1	1	2	0	3	2	3	2	0	3	1	3	0	3	1	6			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr11:55111136T>G	uc010rie.2	+	0	460	c.460T>G	c.(460-462)Tct>Gct	p.S154A		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S154C(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TTTTGTGCACTCTGTGGTTCA	0.453													10	161					0	0	1	0	0	G	55111136	T	G	55111136	3	3	98	1	0	0	0	0	1	0	0	0	11041	1551	54	5	462	5	OR4A16	11	55111136	Missense_Mutation	SNP	T	TCGA-DU-7301-01A-11D-2086-08		55111136	79895380	25	4338											
RNASEH2C	84153	broad.mit.edu	37	chr11	65487791	65487793	+	In_Frame_Del	DEL	CTT	CTT	-																															tctggcttccccatcgacacCttcttctcttctgtcaccat																										TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr11:65487791_65487793delCTT	uc001ofn.3	-	1	448_450	c.268_270delAAG	c.(268-270)aagdel	p.K90del	RNASEH2C_uc001ofm.3_Non-coding_Transcript	NM_032193	NP_115569	Q8TDP1	RNH2C_HUMAN	Homo sapiens ribonuclease H2, subunit C (RNASEH2C), mRNA.	90					RNA catabolic process	nucleus|ribonuclease H2 complex				cervix(1)	1						CCATCGACACCTTCTTCTCTTCT	0.621													13	147	---	---	---	---						-	65487793	CTT	-	65487791	7	5	98	1	0	1	0	1	0	0	0	0	13414	680	24	0	236	0	RNASEH2C	11	65487791	In_Frame_Del	DEL	CTT	TCGA-DU-7301-01A-11D-2086-08	10376655	65487791	69518725	26	4339											
TRPC6	7225	broad.mit.edu	37	chr11	101375482	101375482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaccttctccccttctcaCggagaactgtctgccgccgg	6	10	8	17	3	3	1	1	0	3	1	5	2	3	1	5	2	3	0	5	2	2	3			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr11:101375482C>T	uc001pgk.4	-	1	643	c.218G>A	c.(217-219)cGt>cAt	p.R73H	TRPC6_uc009ywy.3_Missense_Mutation_p.R73H|TRPC6_uc009ywz.1_Missense_Mutation_p.R73H	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	73					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CCCCTTCTCACGGAGAACTGT	0.463													68	124					0	0	1	0	0	T	101375482	C	T	101375482	3	4	98	1	0	0	0	0	1	0	0	0	16580	536	19	1	2625	1	TRPC6	11	101375482	Missense_Mutation	SNP	C	TCGA-DU-7301-01A-11D-2086-08	35887691	101375482	33631034	27	4340											
NLRX1	79671	broad.mit.edu	37	chr11	119050958	119050958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctagatcctgctgggctgcGcacactcctgcctgtcttcc	4	11	10	16	1	1	1	0	0	1	1	4	1	4	1	4	1	3	4	4	1	1	2	rs151306288		TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr11:119050958G>A	uc001pvu.3	+	6	2443	c.2228G>A	c.(2227-2229)cGc>cAc	p.R743H	NLRX1_uc010rzc.1_Missense_Mutation_p.R565H|NLRX1_uc001pvv.3_Missense_Mutation_p.R743H|NLRX1_uc001pvw.3_Missense_Mutation_p.R743H|NLRX1_uc001pvx.3_Missense_Mutation_p.R743H	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	743	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCTGGGCTGCGCACACTCCTG	0.612													93	42					0	0	1	0	0	A	119050958	G	A	119050958	3	1	98	1	0	0	0	0	1	0	0	0	10485	1087	38	1	2250	1	NLRX1	11	119050958	Missense_Mutation	SNP	G	TCGA-DU-7301-01A-11D-2086-08	17675476	119050958	15955558	28	4341											
CLEC9A	283420	broad.mit.edu	37	chr12	10215755	10215755	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacaccagtcaagagaatTgtttaaaggaaggttccacg	14	8	11	8	1	1	1	1	0	0	1	2	3	2	2	2	3	0	3	2	3	5	4			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr12:10215755T>C	uc001qxa.3	+	6	1034	c.421T>C	c.(421-423)Tgt>Cgt	p.C141R		NM_207345	NP_997228	Q6UXN8	CLC9A_HUMAN	Homo sapiens C-type lectin domain family 9, member A (CLEC9A), mRNA.	141	C-type lectin.				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						TCAAGAGAATTGTTTAAAGGA	0.368													10	103					0	0	1	0	0	C	10215755	T	C	10215755	3	2	98	1	0	0	0	0	1	0	0	0	3522	1812	63	3	435	3	CLEC9A	12	10215755	Missense_Mutation	SNP	T	TCGA-DU-7301-01A-11D-2086-08		10215755	123636140	29	4342											
LGR5	8549	broad.mit.edu	37	chr12	71978154	71978154	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctttcttgtccttctcCtctttaataaaccttacatt	7	19	4	11	0	3	0	0	0	3	0	5	0	4	0	3	1	2	1	3	1	4	8	rs147161623		TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr12:71978154C>G	uc001swl.3	+	17	2412	c.2364C>G	c.(2362-2364)tcC>tcG	p.S788S	LGR5_uc001swm.3_Silent_p.S764S|LGR5_uc021rar.1_Silent_p.S716S|LGR5_uc001swn.1_Intron	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	788						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TGTCCTTCTCCTCTTTAATAA	0.428													5	168					0	0	1	0	0	G	71978154	C	G	71978154	2	3	98	1	0	0	0	0	0	0	0	1	8757	668	24	5		5	LGR5	12	71978154	Silent	SNP	C	TCGA-DU-7301-01A-11D-2086-08	61762399	71978154	61873741	30	4343											
TP53	7157	broad.mit.edu	37	chr17	7578524	7578524	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcaggtcttggccagttGgcaaaacatcttgttgaggg	9	10	15	7	0	2	1	0	1	2	0	2	1	2	1	1	5	1	4	1	5	2	4			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr17:7578524G>C	uc002gim.2	-	4	600	c.406C>G	c.(406-408)Caa>Gaa	p.Q136E	TP53_uc002gig.1_Missense_Mutation_p.Q136E|TP53_uc002gih.3_Missense_Mutation_p.Q136E|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Q4E|TP53_uc010cnf.1_Missense_Mutation_p.Q4E|TP53_uc002gii.1_Missense_Mutation_p.Q4E|TP53_uc010cni.1_Missense_Mutation_p.Q136E|TP53_uc010cnh.1_Missense_Mutation_p.Q136E|TP53_uc002gij.2_Missense_Mutation_p.Q136E|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.Q43E|TP53_uc002gio.2_Missense_Mutation_p.Q4E|TP53_uc010vug.2_Missense_Mutation_p.Q97E	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	136	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q136*(67)|p.C135Y(53)|p.C135F(39)|p.C135W(22)|p.C135S(11)|p.C135R(9)|p.C135fs*35(9)|p.0?(8)|p.C135G(7)|p.C135*(7)|p.Q136E(6)|p.C135C(5)|p.Q136H(5)|p.C135fs*9(4)|p.Q136Q(4)|p.Q136P(3)|p.Q136fs*34(3)|p.Q136fs*13(3)|p.F134_T140>S(2)|p.Q136R(2)|p.K132_A138delKMFCQLA(2)|p.Q136K(2)|p.S127_Q136del10(2)|p.C135fs*14(2)|p.N131fs*27(2)|p.C135_A138delCQLA(2)|p.Q136_K139delQLAK(2)|p.C135_T140delCQLAKT(2)|p.C135_Q136insXXXXXX(2)|p.C135_Q136insX(2)|p.Q136L(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*36(1)|p.C135fs*15(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(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)		TTGGCCAGTTGGCAAAACATC	0.562		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)			70	4					0	0	1	0	0	C	7578524	G	C	7578524	3	2	98	1	0	0	0	0	1	0	0	0	16378	1357	47	5	892	5	TP53	17	7578524	Missense_Mutation	SNP	G	TCGA-DU-7301-01A-11D-2086-08		7578524	73616686	31	4344											
FAM117A	81558	broad.mit.edu	37	chr17	47841412	47841412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctccgcgccccggcccccagGcacctccgcctctgccgccc	2	4	9	26	5	1	0	0	0	1	0	3	0	3	0	10	2	1	1	10	2	0	0			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr17:47841412G>A	uc002ipk.3	-	0	107	c.38C>T	c.(37-39)gCc>gTc	p.A13V	FAM117A_uc010wlz.2_Intron	NM_030802	NP_110429	Q9C073	F117A_HUMAN	Homo sapiens family with sequence similarity 117, member A (FAM117A), mRNA.	13										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						cggcccccaggcacctccgcc	0.816													4	6					0	0	1	0	0	A	47841412	G	A	47841412	3	1	98	1	0	0	0	0	1	0	0	0	5409	1203	42	3	1355	3	FAM117A	17	47841412	Missense_Mutation	SNP	G	TCGA-DU-7301-01A-11D-2086-08	40262888	47841412	33353798	32	4345											
DSG3	1830	broad.mit.edu	37	chr18	29054105	29054105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtttgtacaaatacgtatgCcagaggcacagcggtggaag	13	8	13	7	2	0	1	0	0	0	1	0	2	0	2	1	3	4	4	1	3	5	4			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr18:29054105C>T	uc002kws.3	+	14	2232	c.2123C>T	c.(2122-2124)gCc>gTc	p.A708V	DSG3_uc002kwt.3_5'UTR	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	708					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AATACGTATGCCAGAGGCACA	0.438													6	126					0	0	1	0	0	T	29054105	C	T	29054105	3	4	98	1	0	0	0	0	1	0	0	0	4778	739	26	3	2181	3	DSG3	18	29054105	Missense_Mutation	SNP	C	TCGA-DU-7301-01A-11D-2086-08		29054105	49023143	33	4346											
ARHGEF1	9138	broad.mit.edu	37	chr19	42396179	42396179	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctggacttctaccacagcttCctggagaagacagcggtgag	10	8	12	11	1	1	3	0	1	1	2	2	5	2	4	2	3	3	1	2	3	2	3			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr19:42396179C>T	uc002orx.3	+	4	418	c.309C>T	c.(307-309)ttC>ttT	p.F103F	ARHGEF1_uc002orw.1_Silent_p.F103F|ARHGEF1_uc002ory.3_Intron|ARHGEF1_uc002orz.3_5'UTR|ARHGEF1_uc002osa.3_Silent_p.F118F|ARHGEF1_uc002osb.3_Intron	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 1 (ARHGEF1), transcript variant 2, mRNA.	103	RGSL.				Rho protein signal transduction|cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		ACCACAGCTTCCTGGAGAAGA	0.612													29	33					0	0	1	0	0	T	42396179	C	T	42396179	2	4	98	1	0	0	0	0	0	0	0	1	893	854	30	3		3	ARHGEF1	19	42396179	Silent	SNP	C	TCGA-DU-7301-01A-11D-2086-08		42396179	16732804	34	4347											
MEGF8	1954	broad.mit.edu	37	chr19	42857651	42857651	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagcactgcgaacgatgccgGcccggcagcttcggcaacgc	8	4	14	15	6	0	0	0	0	0	0	1	3	0	0	2	3	6	4	2	3	2	1			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr19:42857651G>A	uc002otl.4	+	19	4019	c.3384G>A	c.(3382-3384)cgG>cgA	p.R1128R	MEGF8_uc002otm.4_Silent_p.R736R	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	1195						integral to membrane	calcium ion binding|structural molecule activity	p.S1128R(1)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				AACGATGCCGGCCCGGCAGCT	0.682													5	29					0	0	1	0	0	A	42857651	G	A	42857651	2	1	98	1	0	0	0	0	0	0	0	1	9463	1190	42	3		3	MEGF8	19	42857651	Silent	SNP	G	TCGA-DU-7301-01A-11D-2086-08	461472	42857651	16271332	35	4348											
TMC4	147798	broad.mit.edu	37	chr19	54672374	54672376	+	In_Frame_Del	DEL	AGA	AGA	-																															gagcaggaagcgcagcagggAgaagtaggactccgtgccgg																								rs143105109		TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr19:54672374_54672376delAGA	uc010erf.3	-	3	623_625	c.491_493delTCT	c.(490-495)ttctcc>tcc	p.F164del	TMC4_uc002qdo.3_In_Frame_Del_p.F158del	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	Homo sapiens transmembrane channel-like 4 (TMC4), transcript variant 1, mRNA.	164						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGCAGCAGGGAGAAGTAGGACTC	0.67											OREG0025670	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	0	---	---	---	---						-	54672376	AGA	-	54672374	7	5	98	1	0	1	0	1	0	0	0	0	15984	304	11	0	1693	0	TMC4	19	54672374	In_Frame_Del	DEL	AGA	TCGA-DU-7301-01A-11D-2086-08	11814723	54672374	4456609	36	4349											
DHX35	60625	broad.mit.edu	37	chr20	37591029	37591029	+	Frame_Shift_Del	DEL	C	C	-																															acatggctgcgcccgtgggaCcggtgaagttctggcgaccc																										TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr20:37591029delC	uc002xjh.3	+	0	49	c.19delC	c.(19-21)ccgfs	p.P7fs	DHX35_uc010zwa.2_5'UTR|DHX35_uc010zwc.2_Frame_Shift_Del_p.P7fs|DHX35_uc010zwb.2_5'UTR	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 35 (DHX35), transcript variant 1, mRNA.	7						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GCCCGTGGGACCGGTGAAGTT	0.721													16	14	---	---	---	---						-	37591029	C	-	37591029	7	5	98	1	0	1	0	1	0	0	0	0	4508	507	18	0	21	0	DHX35	20	37591029	Frame_Shift_Del	DEL	C	TCGA-DU-7301-01A-11D-2086-08		37591029	25434491	37	4350											
SAMSN1	64092	broad.mit.edu	37	chr21	15893493	15893493	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttgaatcatctggttttGataaagaattattccgaaaa	15	14	7	5	1	2	3	1	2	1	1	3	4	3	3	1	1	0	2	1	1	7	6			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr21:15893493G>T	uc002yju.1	-	1	189	c.107C>A	c.(106-108)tCa>tAa	p.S36*	SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Nonsense_Mutation_p.S104*	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	36					negative regulation of B cell activation|negative regulation of adaptive immune response|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)		ATCTGGTTTTGATAAAGAATT	0.299													3	51					1	1	1	1	0	T	15893493	G	T	15893493	4	4	98	1	0	0	0	0	0	1	0	0	13830	1294	45	5	1042	5	SAMSN1	21	15893493	Nonsense_Mutation	SNP	G	TCGA-DU-7301-01A-11D-2086-08		15893493	32236402	38	4351											
CHEK2	11200	broad.mit.edu	37	chr22	29090043	29090043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccacgggtgtcttaaggCttcttctgtcgtaaaacgtg	9	12	11	9	3	3	0	0	0	3	0	4	0	3	0	1	2	2	2	1	2	4	4			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr22:29090043C>T	uc003adu.1	-	12	1510	c.1438G>A	c.(1438-1440)Gcc>Acc	p.A480T	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Missense_Mutation_p.A259T|CHEK2_uc010gvh.1_Missense_Mutation_p.A389T|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adt.1_Missense_Mutation_p.A523T|CHEK2_uc003adv.1_Missense_Mutation_p.A451T|CHEK2_uc003adx.1_Missense_Mutation_p.A259T	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	480	Protein kinase.				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						TGTCTTAAGGCTTCTTCTGTC	0.488			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					97	131					0	0	1	0	0	T	29090043	C	T	29090043	3	4	98	1	0	0	0	0	1	0	0	0	3335	797	28	3	205	3	CHEK2	22	29090043	Missense_Mutation	SNP	C	TCGA-DU-7301-01A-11D-2086-08		29090043	22214523	39	4352											
MAPK12	6300	broad.mit.edu	37	chr22	50693717	50693717	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tccgtgtcgtgcagggactcGaagtagggatgggccagcgc	7	7	17	10	4	0	0	0	0	0	0	3	3	1	2	2	3	2	2	2	3	2	1			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr22:50693717G>C	uc003bkm.1	-	10	1084	c.933C>G	c.(931-933)ttC>ttG	p.F311L	MAPK12_uc003bko.2_Missense_Mutation_p.F221L|MAPK12_uc003bkl.1_Missense_Mutation_p.F301L|MAPK12_uc003bkq.2_Missense_Mutation_p.F130L	NM_002969	NP_002960	P53778	MK12_HUMAN	Homo sapiens mitogen-activated protein kinase 12 (MAPK12), mRNA.	311	Protein kinase.				DNA damage induced protein phosphorylation|Ras protein signal transduction|cell cycle arrest|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation	mitochondrion|nucleoplasm	ATP binding|MAP kinase activity|magnesium ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCAGGGACTCGAAGTAGGGAT	0.612													60	66					0	0	1	0	0	C	50693717	G	C	50693717	3	2	98	1	0	0	0	0	1	0	0	0	9274	1049	37	5	178	5	MAPK12	22	50693717	Missense_Mutation	SNP	G	TCGA-DU-7301-01A-11D-2086-08	21603674	50693717	610849	40	4353											
ATRX	546	broad.mit.edu	37	chrX	76938271	76938272	+	Frame_Shift_Del	DEL	TT	TT	-																															caccaattttactcatgctcTttatctctttttctaattct																										TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chrX:76938271_76938272delTT	uc004ecp.4	-	8	2708_2709	c.2476_2477delAA	c.(2476-2478)aagfs	p.K826fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K788fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K611fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K758fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K797fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K771fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	826					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	actcatgctctttatctctttt	0.337			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						64	14	---	---	---	---						-	76938272	TT	-	76938271	7	5	98	1	0	1	0	1	0	0	0	0	1208	1609	56	0	5109	0	ATRX	23	76938271	Frame_Shift_Del	DEL	TT	TCGA-DU-7301-01A-11D-2086-08		76938271	78332289	41	4354											
HSPG2	3339	broad.mit.edu	37	chr1	22198783	22198783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctcgggcacgggttccaCagtgaattctcctgtcaggc	7	9	11	14	2	2	1	1	1	1	0	5	1	3	1	3	3	0	2	3	3	1	2			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr1:22198783C>T	uc009vqd.3	-	32	4160	c.4120G>A	c.(4120-4122)Gtg>Atg	p.V1374M	HSPG2_uc001bfj.3_Missense_Mutation_p.V1373M	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	1373	Laminin IV type A 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ACGGGTTCCACAGTGAATTCT	0.592													2	1					0	0	1	0	0	T	22198783	C	T	22198783	3	4	99	1	0	0	0	0	1	0	0	0	7430	478	17	3	9318	3	HSPG2	1	22198783	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08		22198783	227051838	1	4355											
FASLG	356	broad.mit.edu	37	chr1	172628634	172628634	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggttgccttggtaggattggGcctggggatgtttcagctct	4	14	16	7	0	2	0	1	0	1	0	2	2	2	2	2	6	2	4	2	6	1	5			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr1:172628634G>T	uc001gis.3	+	0	450	c.293G>T	c.(292-294)gGc>gTc	p.G98V	FASLG_uc001git.3_Missense_Mutation_p.G98V	NM_000639	NP_000630	P48023	TNFL6_HUMAN	Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA.	98					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity	p.G98G(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						GTAGGATTGGGCCTGGGGATG	0.572													5	41					0.014758	0.0162716	1	1	0	T	172628634	G	T	172628634	3	4	99	1	0	0	0	0	1	0	0	0	5682	1203	42	5	295	5	FASLG	1	172628634	Missense_Mutation	SNP	G	TCGA-DU-7302-01A-11D-2086-08	150429851	172628634	76621987	2	4356											
ZNF238	10472	broad.mit.edu	37	chr1	244217153	244217154	+	Frame_Shift_Del	DEL	AG	AG	-																															gctacagtgtctgagcgagcAgagacaccagggttttcttt																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr1:244217153_244217154delAG	uc001iad.4	+	1	250_251	c.77_78delAG	c.(76-78)cagfs	p.Q26fs	ZNF238_uc001iae.3_Frame_Shift_Del_p.Q17fs|ZNF238_uc001iaf.1_Frame_Shift_Del_p.Q17fs	NM_205768	NP_006343	Q99592	ZN238_HUMAN	Homo sapiens zinc finger protein 238 (ZNF238), transcript variant 1, mRNA.	17	BTB.				negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(5)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)			CTGAGCGAGCAGAGACACCAGG	0.505													7	76	---	---	---	---						-	244217154	AG	-	244217153	7	5	99	1	0	1	0	1	0	0	0	0	17787	188	7	0	83	0	ZNF238	1	244217153	Frame_Shift_Del	DEL	AG	TCGA-DU-7302-01A-11D-2086-08	71588519	244217153	5033468	3	4357											
APOB	338	broad.mit.edu	37	chr2	21227213	21227213	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccatgcccacggtgcctacGgctggggaggctgctgaggt	5	8	16	12	2	0	1	0	1	0	0	1	2	1	2	3	6	4	3	3	6	1	1			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr2:21227213G>A	uc002red.3	-	27	12143	c.12015C>T	c.(12013-12015)gcC>gcT	p.A4005A		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4005					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CGGTGCCTACGGCTGGGGAGG	0.507													37	38					0	0	1	0	0	A	21227213	G	A	21227213	2	1	99	1	0	0	0	0	0	0	0	1	785	1103	39	2		2	APOB	2	21227213	Silent	SNP	G	TCGA-DU-7302-01A-11D-2086-08		21227213	221972160	4	4358											
ADCY3	109	broad.mit.edu	37	chr2	25062839	25062839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggacgccccccagcaCggtgcccgtgtgcaccccca	6	3	11	21	3	0	0	0	0	0	0	0	1	0	1	7	2	3	2	7	2	0	0			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr2:25062839C>T	uc010ykm.2	-	5	1457	c.1258G>A	c.(1258-1260)Gtg>Atg	p.V420M	ADCY3_uc002rfr.4_Missense_Mutation_p.V31M|ADCY3_uc002rfs.4_Missense_Mutation_p.V420M	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	420					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	p.V420M(2)		NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CCCCCCAGCACGGTGCCCGTG	0.642													16	106					0	0	1	0	0	T	25062839	C	T	25062839	3	4	99	1	0	0	0	0	1	0	0	0	295	536	19	1	2240	1	ADCY3	2	25062839	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08	3835626	25062839	218136534	5	4359											
TRIM54	57159	broad.mit.edu	37	chr2	27522276	27522276	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactgcccaccatttacaaaCgccagaaggtatcaaacagg	15	6	7	13	1	1	1	1	0	0	1	1	1	1	1	3	2	4	1	3	2	5	3			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr2:27522276C>T	uc002rjo.3	+	2	808	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	TRIM54_uc002rjn.3_Missense_Mutation_p.R169C	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	Homo sapiens tripartite motif containing 54 (TRIM54), transcript variant 2, mRNA.	169	Mediates microtubule-binding and homooligomerization (By similarity).				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTTACAAACGCCAGAAGGT	0.522													13	21					0	0	1	0	0	T	27522276	C	T	27522276	3	4	99	1	0	0	0	0	1	0	0	0	16525	536	19	1	515	1	TRIM54	2	27522276	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08	2459437	27522276	215677097	6	4360											
BRE	9577	broad.mit.edu	37	chr2	28210865	28210865	+	Frame_Shift_Del	DEL	A	A	-																															tttcttttatttcaggggatAtcattttcaatgcccaatac																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr2:28210865delA	uc002rls.3	+	3	463	c.211delA	c.(211-213)atcfs	p.I71fs	BRE_uc002rlp.1_Frame_Shift_Del_p.I71fs|BRE_uc002rlq.3_Frame_Shift_Del_p.I71fs|BRE_uc002rlr.3_Frame_Shift_Del_p.I71fs|BRE_uc002rlt.3_Frame_Shift_Del_p.I71fs|BRE_uc002rlu.3_Frame_Shift_Del_p.I71fs|BRE_uc002rlv.3_5'UTR|BC048132_uc002rlw.3_5'Flank	NM_004899	NP_004890	Q9NXR7	BRE_HUMAN	Homo sapiens brain and reproductive organ-expressed (TNFRSF1A modulator) (BRE), transcript variant 1, mRNA.	71	UEV-like 1.				G2/M transition DNA damage checkpoint|apoptosis|chromatin modification|double-strand break repair|positive regulation of DNA repair|positive regulation of anti-apoptosis|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TTCAGGGGATATCATTTTCAA	0.378													12	237	---	---	---	---						-	28210865	A	-	28210865	7	5	99	1	0	1	0	1	0	0	0	0	1509	449	16	0	221	0	BRE	2	28210865	Frame_Shift_Del	DEL	A	TCGA-DU-7302-01A-11D-2086-08	688589	28210865	214988508	7	4361											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								33	56					0	0	1	0	0	T	209113112	C	T	209113112	3	4	99	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08	180902247	209113112	34086261	8	4362											
GBX2	2637	broad.mit.edu	37	chr2	237076427	237076429	+	In_Frame_Del	DEL	GGC	GGC	-																															gcgcggcctggggcagcgcgGgcggcggcggcggcggcggc																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr2:237076427_237076429delGGC	uc002vvw.1	-	0	224_226	c.186_188delGCC	c.(184-189)ccgccc>ccc	p.62_63PP>P	GBX2_uc010zng.1_In_Frame_Del_p.52_53PP>P	NM_001485	NP_001476	P52951	GBX2_HUMAN	Homo sapiens gastrulation brain homeobox 2 (GBX2), mRNA.	62	Poly-Pro.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GGGCAGCGCGggcggcggcggcg	0.754													2	4	---	---	---	---						-	237076429	GGC	-	237076427	7	5	99	1	0	1	0	1	0	0	0	0	6281	1232	43	0	866	0	GBX2	2	237076427	In_Frame_Del	DEL	GGC	TCGA-DU-7302-01A-11D-2086-08	27963315	237076427	6122946	9	4363											
FLNB	2317	broad.mit.edu	37	chr3	58095050	58095050	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcccgcacagcccctacaggGtaggttgtgaggcagaatcc	9	7	12	13	1	0	2	0	1	0	1	2	2	2	2	4	3	2	4	4	3	3	3			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr3:58095050G>C	uc003djj.2	+	14	2364	c.2199_splice	c.e14+1	p.R733_splice	FLNB_uc010hne.2_Splice_Site_p.R733_splice|FLNB_uc003djk.2_Splice_Site_p.R733_splice|FLNB_uc010hnf.2_Splice_Site_p.R733_splice|FLNB_uc003djl.2_Splice_Site_p.R564_splice|FLNB_uc003djm.2_Splice_Site_p.R564_splice	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	733					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCCCTACAGGGTAGGTTGTGA	0.552													7	13					0	0	1	0	0	C	58095050	G	C	58095050	5	2	99	1	0	0	0	0	0	0	1	0	5934	1275	44	5	2254	5	FLNB	3	58095050	Splice_Site	SNP	G	TCGA-DU-7302-01A-11D-2086-08		58095050	139927380	10	4364											
TIMD4	91937	broad.mit.edu	37	chr5	156378778	156378778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgcgtgtggtggtggttgCtgttctgtgcgtggttgttg	0	18	18	5	2	2	0	0	0	2	0	2	0	2	0	0	4	3	5	0	4	0	4			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr5:156378778C>T	uc003lwh.2	-	2	481	c.424G>A	c.(424-426)Gca>Aca	p.A142T	TIMD4_uc010jii.2_Missense_Mutation_p.A142T	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	142	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTGGTTGCTGTTCTGTGC	0.502													15	401					0	0	1	0	0	T	156378778	C	T	156378778	3	4	99	1	0	0	0	0	1	0	0	0	15900	797	28	3	740	3	TIMD4	5	156378778	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08		156378778	24536482	11	4365											
JARID2	3720	broad.mit.edu	37	chr6	15504753	15504755	+	In_Frame_Del	DEL	CTT	CTT	-																															aaggtctgtttctctaacaaCtttttatcgaacagcgagga																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr6:15504753_15504755delCTT	uc003nbj.3	+	8	2715_2717	c.2471_2473delCTT	c.(2470-2475)actttt>att	p.824_825TF>I	JARID2_uc011div.2_In_Frame_Del_p.652_653TF>I|JARID2_uc011diw.1_In_Frame_Del_p.786_787TF>I	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	824					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TCTCTAACAACTTTTTATCGAAC	0.483													11	70	---	---	---	---						-	15504755	CTT	-	15504753	7	5	99	1	0	1	0	1	0	0	0	0	7945	565	20	0	2505	0	JARID2	6	15504753	In_Frame_Del	DEL	CTT	TCGA-DU-7302-01A-11D-2086-08		15504753	155610314	12	4366											
ZNF292	23036	broad.mit.edu	37	chr6	87965943	87965944	+	Frame_Shift_Del	DEL	GA	GA	-																															agaacacagcagagaatattGagaaagaaagatctatgctt																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr6:87965943_87965944delGA	uc003plm.4	+	7	2637_2638	c.2596_2597delGA	c.(2596-2598)gagfs	p.E866fs		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	866					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L866L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AGAGAATATTGAGAAAGAAAGA	0.401													7	54	---	---	---	---						-	87965944	GA	-	87965943	7	5	99	1	0	1	0	1	0	0	0	0	17823	1291	45	0	2626	0	ZNF292	6	87965943	Frame_Shift_Del	DEL	GA	TCGA-DU-7302-01A-11D-2086-08	72461190	87965943	83149124	13	4367											
ZNF292	23036	broad.mit.edu	37	chr6	87966376	87966377	+	Frame_Shift_Del	DEL	CT	CT	-																															ttctttagtaaattcagaaaCtctcaaaataggtgacctta																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr6:87966376_87966377delCT	uc003plm.4	+	7	3070_3071	c.3029_3030delCT	c.(3028-3030)actfs	p.T1010fs		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	1010					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AATTCAGAAACTCTCAAAATAG	0.356													11	29	---	---	---	---						-	87966377	CT	-	87966376	7	5	99	1	0	1	0	1	0	0	0	0	17823	565	20	0	3059	0	ZNF292	6	87966376	Frame_Shift_Del	DEL	CT	TCGA-DU-7302-01A-11D-2086-08	433	87966376	83148691	14	4368											
SPDYE1	285955	broad.mit.edu	37	chr7	44042300	44042301	+	Frame_Shift_Del	DEL	CT	CT	-																															gccacggaaggtgctcgcccCtgagcctgaggagatctggg																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr7:44042300_44042301delCT	uc003tjf.3	+	1	507_508	c.371_372delCT	c.(370-372)cctfs	p.P124fs	POLR2J4_uc003tjc.2_Intron|POLR2J4_uc003tjd.3_Intron|POLR2J4_uc010kxw.2_Intron|POLR2J4_uc003tje.4_Intron	NM_175064	NP_778234	Q8NFV5	SPDE1_HUMAN	Homo sapiens speedy homolog E1 (Xenopus laevis) (SPDYE1), mRNA.	124										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						GTGCTCGCCCCTGAGCCTGAGG	0.614													19	25	---	---	---	---						-	44042301	CT	-	44042300	7	5	99	1	0	1	0	1	0	0	0	0	15028	681	24	0	377	0	SPDYE1	7	44042300	Frame_Shift_Del	DEL	CT	TCGA-DU-7302-01A-11D-2086-08		44042300	115096363	15	4369											
SUMF2	25870	broad.mit.edu	37	chr7	56145816	56145816	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagttccccaagggagacAaagctgaggatggcttccat	13	7	12	9	0	0	2	0	1	0	1	2	5	2	3	3	3	1	3	3	3	3	2			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr7:56145816A>T	uc011kcw.2	+	6	701	c.670A>T	c.(670-672)Aaa>Taa	p.K224*	PSPH_uc003trj.3_Intron|SUMF2_uc011kcv.2_Non-coding_Transcript|SUMF2_uc003trt.3_Nonsense_Mutation_p.K117*|SUMF2_uc003trv.3_Nonsense_Mutation_p.K224*|SUMF2_uc011kcy.2_Nonsense_Mutation_p.K209*|SUMF2_uc011kcz.2_Nonsense_Mutation_p.K140*|SUMF2_uc003trx.3_Non-coding_Transcript|SUMF2_uc011kda.2_5'UTR|SUMF2_uc011kcx.2_Nonsense_Mutation_p.K155*	NM_015411	NP_001139805	Q8NBJ7	SUMF2_HUMAN	Homo sapiens sulfatase modifying factor 2 (SUMF2), transcript variant 2, mRNA.	205						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAAGGGAGACAAAGCTGAGGA	0.532													16	117					0	0	1	0	0	T	56145816	A	T	56145816	4	4	99	1	0	0	0	0	0	1	0	0	15383	131	5	5	696	5	SUMF2	7	56145816	Nonsense_Mutation	SNP	A	TCGA-DU-7302-01A-11D-2086-08	12103516	56145816	102992847	16	4370											
ASL	435	broad.mit.edu	37	chr7	65554152	65554155	+	Frame_Shift_Del	DEL	TGTT	TGTT	-																															ccggagcaaggctgggcgtgTgtttgggcgggtgagcaagg																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr7:65554152_65554155delTGTT	uc003tup.3	+	10	1143_1146	c.908_911delTGTT	c.(907-912)gtgtttfs	p.V303fs	ASL_uc003tuo.3_Frame_Shift_Del_p.V303fs|ASL_uc003tur.3_Frame_Shift_Del_p.V277fs|ASL_uc003tuq.3_Frame_Shift_Del_p.V303fs	NM_001024943	NP_001020114	P04424	ARLY_HUMAN	Homo sapiens argininosuccinate lyase (ASL), transcript variant 1, mRNA.	303					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	GCTGGGCGTGTGTTTGGGCGGGTG	0.672													10	88	---	---	---	---						-	65554155	TGTT	-	65554152	7	5	99	1	0	1	0	1	0	0	0	0	1044	1696	59	0	950	0	ASL	7	65554152	Frame_Shift_Del	DEL	TGTT	TCGA-DU-7302-01A-11D-2086-08	9408336	65554152	93584511	17	4371											
GNAI1	2770	broad.mit.edu	37	chr7	79846804	79846805	+	Frame_Shift_Del	DEL	TT	TT	-																															atctaaaagattgtggtctcTtttaagttttgcagttcatg																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr7:79846804_79846805delTT	uc003uhb.1	+	7	1397_1398	c.1060_1061delTT	c.(1060-1062)tttfs	p.F354fs	GNAI1_uc011kgt.1_Frame_Shift_Del_p.F302fs	NM_002069	NP_002060	P63096	GNAI1_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 (GNAI1), transcript variant 1, mRNA.	354					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						TTGTGGTCTCTTTTAAGTTTTG	0.342													13	28	---	---	---	---						-	79846805	TT	-	79846804	7	5	99	1	0	1	0	1	0	0	0	0	6504	1609	56	0	1090	0	GNAI1	7	79846804	Frame_Shift_Del	DEL	TT	TCGA-DU-7302-01A-11D-2086-08	14292652	79846804	79291859	18	4372											
CLU	1191	broad.mit.edu	37	chr8	27466456	27466459	+	Splice_Site	DEL	TCTT	TCTT	-																															ggtagcggctcctcctgaccTctttcttcttcttggcttct																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr8:27466456_27466459delTCTT	uc003xfy.2	-	3	426	c.279_splice	c.e3+1	p.E93_splice	CLU_uc003xfw.2_Splice_Site_p.E82_splice|CLU_uc003xfx.2_Splice_Site_p.E82_splice|CLU_uc003xfz.2_Splice_Site_p.E82_splice	NM_001831	NP_001822	P10909	CLUS_HUMAN	Homo sapiens clusterin (CLU), transcript variant 1, mRNA.	82					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		CCTCCTGACCTCTTTCTTCTTCTT	0.559													7	151	---	---	---	---						-	27466459	TCTT	-	27466456	8	5	99	1	0	1	0	1	0	0	1	0	3568	1565	54	0	1132	0	CLU	8	27466456	Splice_Site	DEL	TCTT	TCGA-DU-7302-01A-11D-2086-08		27466456	118897566	19	4373											
NOTCH1	4851	broad.mit.edu	37	chr9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-																															gccatggggacactcgcagtAgaaggaggccacacggtcat																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr9:139413070_139413072delAGA	uc004chz.3	-	5	1070_1072	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	357	EGF-like 9; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.F357delF(6)|p.S356del(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			10	20	---	---	---	---						-	139413072	AGA	-	139413070	7	5	99	1	0	1	0	1	0	0	0	0	10547	420	15	0	6711	0	NOTCH1	9	139413070	In_Frame_Del	DEL	AGA	TCGA-DU-7302-01A-11D-2086-08		139413070	1800361	20	4374											
LRRC18	474354	broad.mit.edu	37	chr10	50122058	50122058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgtccatgtcactaaggCgcagaatacacttggggaag	11	8	12	10	2	1	1	1	0	0	1	3	2	2	2	1	3	1	2	1	3	4	3			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr10:50122058C>T	uc001jhd.3	-	0	223	c.143G>A	c.(142-144)cGc>cAc	p.R48H	WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.R48H	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	48						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GTCACTAAGGCGCAGAATACA	0.507													23	42					0	0	1	0	0	T	50122058	C	T	50122058	3	4	99	1	0	0	0	0	1	0	0	0	8974	768	27	1	650	1	LRRC18	10	50122058	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08		50122058	85412689	21	4375											
CDH23	64072	broad.mit.edu	37	chr10	73544798	73544798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacagtggctgcaatgcaCgcctcaccttcaacatcact	10	9	7	15	1	3	1	3	1	0	0	3	1	3	1	2	1	3	3	2	1	2	1			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr10:73544798C>T	uc001jrx.4	+	40	6034	c.5644C>T	c.(5644-5646)Cgc>Tgc	p.R1882C		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1885	Cadherin 18.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTGCAATGCACGCCTCACCTT	0.602													10	105					0	0	1	0	0	T	73544798	C	T	73544798	3	4	99	1	0	0	0	0	1	0	0	0	3108	536	19	1	6164	1	CDH23	10	73544798	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08	23422740	73544798	61989949	22	4376											
GLUD1	2746	broad.mit.edu	37	chr10	88819949	88819949	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgtttctctccaggaagAtcttgtcagcttctggagtt	8	16	9	8	0	4	1	1	0	3	1	6	3	5	3	1	2	1	3	1	2	2	5			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr10:88819949A>C	uc001keh.3	-	8	1497	c.1247T>G	c.(1246-1248)aTc>aGc	p.I416S	GLUD1_uc001keg.3_Missense_Mutation_p.I249S|GLUD1_uc010qmp.2_Missense_Mutation_p.I283S	NM_005271	NP_005262	P00367	DHE3_HUMAN	Homo sapiens glutamate dehydrogenase 1 (GLUD1), nuclear gene encoding mitochondrial protein, mRNA.	416					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|GTP binding|NAD+ binding|glutamate dehydrogenase|glutamate dehydrogenase activity|identical protein binding|leucine binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	CTCCAGGAAGATCTTGTCAGC	0.398													7	157					0	0	1	0	0	C	88819949	A	C	88819949	3	2	99	1	0	0	0	0	1	0	0	0	6476	333	12	5	449	5	GLUD1	10	88819949	Missense_Mutation	SNP	A	TCGA-DU-7302-01A-11D-2086-08	15275151	88819949	46714798	23	4377											
CNNM2	54805	broad.mit.edu	37	chr10	104809481	104809481	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggtaaatctcacctggctAtcgtgcagcgggtaaacaat	13	9	10	9	2	1	0	1	0	1	0	3	0	1	0	1	3	3	4	1	3	7	3			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr10:104809481A>G	uc001kwm.3	+	1	1802	c.1639A>G	c.(1639-1641)Atc>Gtc	p.I547V	CNNM2_uc001kwn.3_Missense_Mutation_p.I547V	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	Homo sapiens cyclin M2 (CNNM2), transcript variant 1, mRNA.	547	CBS 2.				ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCACCTGGCTATCGTGCAGCG	0.378													7	128					0	0	1	0	0	G	104809481	A	G	104809481	3	3	99	1	0	0	0	0	1	0	0	0	3613	449	16	3	1687	3	CNNM2	10	104809481	Missense_Mutation	SNP	A	TCGA-DU-7302-01A-11D-2086-08	15989532	104809481	30725266	24	4378											
ANO9	338440	broad.mit.edu	37	chr11	418481	418483	+	In_Frame_Del	DEL	TCT	TCT	-																															cctctgccttccatgccacaTcttctcacgcagcctctggt																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr11:418481_418483delTCT	uc001lpi.2	-	22	2322_2324	c.2237_2239delAGA	c.(2236-2241)aagatg>atg	p.K746del	SIGIRR_uc001lpf.2_5'Flank|SIGIRR_uc001lpe.1_5'Flank|ANO9_uc001lph.2_In_Frame_Del_p.K439del|ANO9_uc010qvv.1_In_Frame_Del_p.K602del	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	Homo sapiens anoctamin 9 (ANO9), mRNA.	746						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CCATGCCACATCTTCTCACGCAG	0.621													51	105	---	---	---	---						-	418483	TCT	-	418481	7	5	99	1	0	1	0	1	0	0	0	0	704	1435	50	0	113	0	ANO9	11	418481	In_Frame_Del	DEL	TCT	TCGA-DU-7302-01A-11D-2086-08		418481	134588035	25	4379											
NDUFS3	4722	broad.mit.edu	37	chr11	47603920	47603922	+	In_Frame_Del	DEL	TCT	TCT	-																															gatctgggacatgtttggagTcttctttgctaaccaccctg																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr11:47603920_47603922delTCT	uc001nga.2	+	5	609_611	c.527_529delTCT	c.(526-531)gtcttc>gtc	p.F178del	NDUFS3_uc001nft.3_In_Frame_Del_p.F157del	NM_004551	NP_004542	O75489	NDUS3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) (NDUFS3), nuclear gene encoding mitochondrial protein, mRNA.	178					induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|electron carrier activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					NADH(DB00157)	ATGTTTGGAGTCTTCTTTGCTAA	0.483													38	365	---	---	---	---						-	47603922	TCT	-	47603920	7	5	99	1	0	1	0	1	0	0	0	0	10293	1667	58	0	549	0	NDUFS3	11	47603920	In_Frame_Del	DEL	TCT	TCGA-DU-7302-01A-11D-2086-08	47185439	47603920	87402596	26	4380											
SNX32	254122	broad.mit.edu	37	chr11	65618541	65618543	+	In_Frame_Del	DEL	TTT	TTT	-																															cttaggaggtggatgacttcTttgagcatgagaggaccttc																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr11:65618541_65618543delTTT	uc001ofr.3	+	6	746_748	c.619_621delTTT	c.(619-621)tttdel	p.F207del		NM_152760	NP_689973	Q86XE0	SNX32_HUMAN	Homo sapiens sorting nexin 32 (SNX32), mRNA.	207					cell communication|protein transport		phosphatidylinositol binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		GGATGACTTCTTTGAGCATGAGA	0.596													14	228	---	---	---	---						-	65618543	TTT	-	65618541	7	5	99	1	0	1	0	1	0	0	0	0	14902	1609	56	0	645	0	SNX32	11	65618541	In_Frame_Del	DEL	TTT	TCGA-DU-7302-01A-11D-2086-08	18014621	65618541	69387975	27	4381											
CREBZF	58487	broad.mit.edu	37	chr11	85375242	85375244	+	In_Frame_Del	DEL	CTT	CTT	-																															tccagccccatcacgtactcCttcttcttcagtcgattaag																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr11:85375242_85375244delCTT	uc001pas.2	-	0	939_941	c.676_678delAAG	c.(676-678)aagdel	p.K226del	CREBZF_uc010rtd.1_Non-coding_Transcript|CREBZF_uc010rtc.1_Non-coding_Transcript	NM_001039618	NP_001034707	Q9NS37	ZHANG_HUMAN	Homo sapiens CREB/ATF bZIP transcription factor (CREBZF), transcript variant 1, mRNA.	226					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K226delK(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCACGTACTCCTTCTTCTTCAGT	0.665											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	173	---	---	---	---						-	85375244	CTT	-	85375242	7	5	99	1	0	1	0	1	0	0	0	0	3863	680	24	0	390	0	CREBZF	11	85375242	In_Frame_Del	DEL	CTT	TCGA-DU-7302-01A-11D-2086-08	19756701	85375242	49631274	28	4382											
CCDC89	220388	broad.mit.edu	37	chr11	85397064	85397064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccagttccttaaactccGtctcctcttcctggttgttc	4	16	6	15	2	2	0	0	0	2	0	8	0	6	0	5	1	1	3	5	1	2	5			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr11:85397064G>A	uc001pau.1	-	0	257	c.110C>T	c.(109-111)aCg>aTg	p.T37M		NM_152723	NP_689936	Q8N998	CCD89_HUMAN	Homo sapiens coiled-coil domain containing 89 (CCDC89), mRNA.	37						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CTTAAACTCCGTCTCCTCTTC	0.552													5	57					0	0	1	0	0	A	85397064	G	A	85397064	3	1	99	1	0	0	0	0	1	0	0	0	2866	1145	40	1	1018	1	CCDC89	11	85397064	Missense_Mutation	SNP	G	TCGA-DU-7302-01A-11D-2086-08	21822	85397064	49609452	29	4383											
RBM7	10179	broad.mit.edu	37	chr11	114278270	114278273	+	Frame_Shift_Del	DEL	TCAA	TCAA	-																															tcaatcacacagtcatagttTcaatcagtcttcaagctccc																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr11:114278270_114278273delTCAA	uc001pow.3	+	4	555_558	c.545_548delTCAA	c.(544-549)ttcaatfs	p.F182fs	RBM7_uc001pov.3_Frame_Shift_Del_p.F181fs|RBM7_uc001pox.3_Frame_Shift_Del_p.F61fs	NM_016090	NP_057174	Q9Y580	RBM7_HUMAN	Homo sapiens RNA binding motif protein 7 (RBM7), mRNA.	181					meiosis		RNA binding|nucleotide binding|protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		AGTCATAGTTTCAATCAGTCTTCA	0.422													12	201	---	---	---	---						-	114278273	TCAA	-	114278270	7	5	99	1	0	1	0	1	0	0	0	0	13145	1783	62	0	560	0	RBM7	11	114278270	Frame_Shift_Del	DEL	TCAA	TCGA-DU-7302-01A-11D-2086-08	28881206	114278270	20728246	30	4384											
KCNJ1	3758	broad.mit.edu	37	chr11	128710111	128710111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcccaaaaaagcgagtgaCgacccatttccgaagatgtt	14	8	9	10	3	0	2	0	1	0	1	1	5	1	2	3	0	2	1	3	0	4	2			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr11:128710111C>T	uc001qeo.1	-	1	136	c.85G>A	c.(85-87)Gtc>Atc	p.V29I	KCNJ1_uc001qep.1_Missense_Mutation_p.V10I|KCNJ1_uc001qeq.1_Missense_Mutation_p.V10I|KCNJ1_uc001qer.1_Missense_Mutation_p.V10I|KCNJ1_uc001qes.1_Missense_Mutation_p.V10I|KCNJ1_uc021qsb.1_Missense_Mutation_p.V10I	NM_000220	NP_000211	P48048	IRK1_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1 (KCNJ1), transcript variant rom-k1, mRNA.	29					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	AAGCGAGTGACGACCCATTTC	0.408													9	92					0	0	1	0	0	T	128710111	C	T	128710111	3	4	99	1	0	0	0	0	1	0	0	0	8043	536	19	1	1094	1	KCNJ1	11	128710111	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08	14431841	128710111	6296405	31	4385											
VWF	7450	broad.mit.edu	37	chr12	6128787	6128787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtagaaatcgtgcaacGgcggttccgagatgtcctcc	9	9	12	11	4	0	2	0	0	0	2	4	3	3	2	3	2	3	4	3	2	3	2	rs61749370		TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr12:6128787G>A	uc001qnn.1	-	27	4047	c.3797C>T	c.(3796-3798)cCg>cTg	p.P1266L	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1266			P -> L (in VWD2).		blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ATCGTGCAACGGCGGTTCCGA	0.612													24	44					0	0	1	0	0	A	6128787	G	A	6128787	3	1	99	1	0	0	0	0	1	0	0	0	17243	1116	39	2	4744	2	VWF	12	6128787	Missense_Mutation	SNP	G	TCGA-DU-7302-01A-11D-2086-08		6128787	127723108	32	4386											
CIT	11113	broad.mit.edu	37	chr12	120151451	120151455	+	Splice_Site	DEL	ATTCT	ATTCT	-																															ggggtgacacatcacctgacAttctagggaagaacagtgag																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr12:120151451_120151455delATTCT	uc001txj.2	-	34	4363	c.4307_splice	c.e34-1	p.E1436_splice	CIT_uc001txh.2_Splice_Site_p.E913_splice|CIT_uc001txi.2_Splice_Site_p.E1394_splice|MIR1178_uc021rer.1_Non-coding_Transcript	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1394					intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ATCACCTGACATTCTAGGGAAGAAC	0.61													9	99	---	---	---	---						-	120151455	ATTCT	-	120151451	8	5	99	1	0	1	0	1	0	0	1	0	3438	217	8	0	1960	0	CIT	12	120151451	Splice_Site	DEL	ATTCT	TCGA-DU-7302-01A-11D-2086-08	114022664	120151451	13700444	33	4387											
GATC	283459	broad.mit.edu	37	chr12	120894951	120894951	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttactacaaaactcccatcgCgtcgtggaggagtactttgt	10	12	9	10	3	0	0	0	0	0	0	3	2	1	2	1	2	4	1	1	2	5	4			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr12:120894951C>T	uc010szi.2	+	2	370	c.327C>T	c.(325-327)cgC>cgT	p.R109R	GATC_uc021rev.1_Non-coding_Transcript	NM_176818	NP_789788	O43716	GATCL_HUMAN	Homo sapiens glutamyl-tRNA(Gln) amidotransferase, subunit C homolog (bacterial) (GATC), transcript variant 1, mRNA.	109					regulation of translational fidelity					breast(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	6	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTCCCATCGCGTCGTGGAGG	0.478											OREG0022192	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	29					0	0	1	0	0	T	120894951	C	T	120894951	2	4	99	1	0	0	0	0	0	0	0	1	6262	755	27	1		1	GATC	12	120894951	Silent	SNP	C	TCGA-DU-7302-01A-11D-2086-08	743500	120894951	12956944	34	4388											
METTL3	56339	broad.mit.edu	37	chr14	21971404	21971406	+	In_Frame_Del	DEL	TTC	TTC	-																															aggcagcatgtttccttgatTtcttggctggctcctttgct																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr14:21971404_21971406delTTC	uc001wbc.3	-	2	725_727	c.633_635delGAA	c.(631-636)aagaaa>aaa	p.211_212KK>K	METTL3_uc001wbb.3_In_Frame_Del_p.56_57KK>K|METTL3_uc010tlw.1_Non-coding_Transcript|METTL3_uc010tlx.2_In_Frame_Del_p.211_212KK>K|METTL3_uc021rox.1_In_Frame_Del_p.211_212KK>K	NM_019852	NP_062826	Q86U44	MTA70_HUMAN	Homo sapiens methyltransferase like 3 (METTL3), mRNA.	211					gene expression	nuclear speck	RNA binding|mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		TTTCCTTGATTTCTTGGCTGGCT	0.502													34	229	---	---	---	---						-	21971406	TTC	-	21971404	7	5	99	1	0	1	0	1	0	0	0	0	9501	1841	64	0	1143	0	METTL3	14	21971404	In_Frame_Del	DEL	TTC	TCGA-DU-7302-01A-11D-2086-08		21971404	85378136	35	4389											
TGM7	116179	broad.mit.edu	37	chr15	43584939	43584939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttaaaaagtaggatgaaaGttcccagcgggtaagtcaca	15	8	12	6	1	1	1	1	1	0	0	2	2	2	2	1	3	1	4	1	3	6	4			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr15:43584939G>A	uc001zrf.1	-	2	412	c.407C>T	c.(406-408)aCt>aTt	p.T136I		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	136					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TAGGATGAAAGTTCCCAGCGG	0.478													66	86					0	0	1	0	0	A	43584939	G	A	43584939	3	1	99	1	0	0	0	0	1	0	0	0	15832	1029	36	3	1769	3	TGM7	15	43584939	Missense_Mutation	SNP	G	TCGA-DU-7302-01A-11D-2086-08		43584939	58946453	36	4390											
ACSBG1	23205	broad.mit.edu	37	chr15	78475123	78475123	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagatgtggcaactgtttcCagatctgcattgacaggaaa	12	12	10	7	0	1	3	0	1	1	2	2	4	2	4	1	2	2	3	1	2	3	3			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr15:78475123C>T	uc002bdh.3	-	5	874	c.668G>A	c.(667-669)tGg>tAg	p.W223*	ACSBG1_uc010umx.2_5'UTR|ACSBG1_uc010umw.2_Nonsense_Mutation_p.W219*|ACSBG1_uc010umy.2_Nonsense_Mutation_p.W116*	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA.	223					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	p.W223S(2)|p.W223*(2)		endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CAACTGTTTCCAGATCTGCAT	0.463													24	37					0	0	1	0	0	T	78475123	C	T	78475123	4	4	99	1	0	0	0	0	0	1	0	0	173	595	21	3	1542	3	ACSBG1	15	78475123	Nonsense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08	34890184	78475123	24056269	37	4391											
TMEM8A	58986	broad.mit.edu	37	chr16	427459	427459	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgggtgggaaacgttgacGgaggcattgcttctcggtgt	6	10	17	8	4	1	1	0	1	1	0	2	3	1	3	1	5	2	3	1	5	1	3			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr16:427459G>A	uc002cgu.4	-	2	555	c.426C>T	c.(424-426)tcC>tcT	p.S142S	TMEM8A_uc002cgv.4_5'UTR	NM_021259	NP_067082	Q9HCN3	TMM8A_HUMAN	Homo sapiens transmembrane protein 8A (TMEM8A), mRNA.	142					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						AAACGTTGACGGAGGCATTGC	0.677											OREG0003703	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	10	21					0	0	1	0	0	A	427459	G	A	427459	2	1	99	1	0	0	0	0	0	0	0	1	16211	1103	39	2		2	TMEM8A	16	427459	Silent	SNP	G	TCGA-DU-7302-01A-11D-2086-08		427459	89927294	38	4392											
CES3	23491	broad.mit.edu	37	chr16	66997813	66997813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtggttacagtccagtacCgccttggggtccttggcttc	4	13	12	12	2	0	0	0	0	0	0	4	0	2	0	4	4	2	3	4	4	2	5	rs148620443	byFrequency	TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr16:66997813C>T	uc002eqt.3	+	3	614	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C	CES3_uc010cdz.3_Missense_Mutation_p.R179C	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA.	179						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		AGTCCAGTACCGCCTTGGGGT	0.607													57	59					0	0	1	0	0	T	66997813	C	T	66997813	3	4	99	1	0	0	0	0	1	0	0	0	3271	652	23	2	549	2	CES3	16	66997813	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08	66570354	66997813	23356940	39	4393											
MVD	4597	broad.mit.edu	37	chr16	88719764	88719764	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggctccatggccagcgcagCctgaagctcagctgagagag	9	5	14	13	2	1	3	1	2	0	1	2	4	2	3	3	2	4	4	3	2	1	0			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr16:88719764C>A	uc002flg.1	-	8	1073	c.1066G>T	c.(1066-1068)Gct>Tct	p.A356S	CYBA_uc002flb.3_5'Flank|CYBA_uc002fld.1_5'Flank|CYBA_uc010chx.1_5'Flank|CYBA_uc002fle.1_5'Flank|MVD_uc002flf.1_Missense_Mutation_p.A225S	NM_002461	NP_002452	P53602	MVD1_HUMAN	Homo sapiens mevalonate (diphospho) decarboxylase (MVD), mRNA.	356					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|Hsp70 protein binding|diphosphomevalonate decarboxylase activity|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCCAGCGCAGCCTGAAGCTCA	0.617													3	35					1	1	1	1	0	A	88719764	C	A	88719764	3	1	99	1	0	0	0	0	1	0	0	0	9994	739	26	5	144	5	MVD	16	88719764	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08	21721951	88719764	1634989	40	4394											
KIAA0664	23277	broad.mit.edu	37	chr17	2601759	2601761	+	In_Frame_Del	DEL	GAA	GAA	-																															cggacgtcgaagcccaggctGaagaagatgttgttccagat																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr17:2601759_2601761delGAA	uc002fuy.1	-	9	1362_1364	c.1276_1278delTTC	c.(1276-1278)ttcdel	p.F426del	KIAA0664_uc002fux.1_In_Frame_Del_p.F358del	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	426							binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						AGCCCAGGCTGAAGAAGATGTTG	0.611													11	48	---	---	---	---						-	2601761	GAA	-	2601759	7	5	99	1	0	1	0	1	0	0	0	0	8189	1281	45	0	2719	0	KIAA0664	17	2601759	In_Frame_Del	DEL	GAA	TCGA-DU-7302-01A-11D-2086-08		2601759	78593451	41	4395											
MYH2	4620	broad.mit.edu	37	chr17	10432336	10432336	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggtcagagcgctgcttctCtgctttggcccgggaggccc	4	9	15	13	2	2	1	1	0	1	1	3	3	2	2	2	4	3	3	2	4	0	2			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr17:10432336C>T	uc010coi.3	-	26	3543	c.3415G>A	c.(3415-3417)Gag>Aag	p.E1139K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E1139K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1139					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CGCTGCTTCTCTGCTTTGGCC	0.582													34	70					0	0	1	0	0	T	10432336	C	T	10432336	3	4	99	1	0	0	0	0	1	0	0	0	10035	922	32	3	2466	3	MYH2	17	10432336	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08	7830577	10432336	70762874	42	4396											
VAT1	10493	broad.mit.edu	37	chr17	41168124	41168126	+	In_Frame_Del	DEL	TTC	TTC	-																															ccaggaggaccttgcccacaTtcttcttctcctgcatctgt																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr17:41168124_41168126delTTC	uc002icm.1	-	5	1254_1256	c.1134_1136delGAA	c.(1132-1137)aagaat>aat	p.K378del	VAT1_uc010cyw.1_In_Frame_Del_p.K244del|VAT1_uc010whk.1_In_Frame_Del_p.K310del	NM_006373	NP_006364	Q99536	VAT1_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica) (VAT1), mRNA.	378						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CTTGCCCACATTCTTCTTCTCCT	0.557													40	474	---	---	---	---						-	41168126	TTC	-	41168124	7	5	99	1	0	1	0	1	0	0	0	0	17126	1493	52	0	49	0	VAT1	17	41168124	In_Frame_Del	DEL	TTC	TCGA-DU-7302-01A-11D-2086-08	30735788	41168124	40027086	43	4397											
RNF213	57674	broad.mit.edu	37	chr17	78345780	78345780	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgctcttcatcaactgcCtggaggtaagtgaactctct	10	12	8	11	0	4	1	2	1	2	0	5	2	4	2	1	2	4	2	1	2	3	2			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr17:78345780C>A	uc002jyh.2	+	47	12822	c.12679C>A	c.(12679-12681)Ctg>Atg	p.L4227M	RNF213_uc021uen.1_Missense_Mutation_p.L4178M|LOC100294362_uc002jyi.2_Intron	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CATCAACTGCCTGGAGGTAAG	0.308													3	32					1	1	1	1	0	A	78345780	C	A	78345780	3	1	99	1	0	0	0	0	1	0	0	0	13477	680	24	5	13033	5	RNF213	17	78345780	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08	37177656	78345780	2849430	44	4398											
ALPK2	115701	broad.mit.edu	37	chr18	56171248	56171252	+	Frame_Shift_Del	DEL	TTCTC	TTCTC	-																															catttctgaccagcttctgaTtctcttctcaagaagtttat																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr18:56171248_56171252delTTCTC	uc002lhj.4	-	10	6372_6376	c.6158_6162delGAGAA	c.(6157-6162)agagaafs	p.R2053fs		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	2053	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CAGCTTCTGATTCTCTTCTCAAGAA	0.473													7	207	---	---	---	---						-	56171252	TTCTC	-	56171248	7	5	99	1	0	1	0	1	0	0	0	0	545	1490	52	0	362	0	ALPK2	18	56171248	Frame_Shift_Del	DEL	TTCTC	TCGA-DU-7302-01A-11D-2086-08		56171248	21906000	45	4399											
PKN1	5585	broad.mit.edu	37	chr19	14574736	14574736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caatgccacgggcacaggcaCctttagccctggggcttctc	7	8	11	15	1	1	0	0	0	1	0	2	0	1	0	3	4	2	3	3	4	2	3			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr19:14574736C>T	uc002myp.3	+	10	1760	c.1592C>T	c.(1591-1593)aCc>aTc	p.T531I	PKN1_uc002myq.3_Missense_Mutation_p.T537I	NM_002741	NP_002732	Q16512	PKN1_HUMAN	Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.	531					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	ATP binding|GTP-Rho binding|Rac GTPase binding|androgen receptor binding|chromatin binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GGCACAGGCACCTTTAGCCCT	0.667													3	25					0	0	1	0	0	T	14574736	C	T	14574736	3	4	99	1	0	0	0	0	1	0	0	0	11979	507	18	3	1677	3	PKN1	19	14574736	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08		14574736	44554247	46	4400											
BRD4	23476	broad.mit.edu	37	chr19	15349706	15349708	+	In_Frame_Del	DEL	GCT	GCT	-																															ctgctgctgttgctcctggcGctgctgctgctgctgctcct																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr19:15349706_15349708delGCT	uc002nar.3	-	18	4088_4090	c.3866_3868delAGC	c.(3865-3870)cagcgc>cgc	p.Q1289del		NM_058243	NP_490597	O60885	BRD4_HUMAN	Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA.	1289	Poly-Gln.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			tgctcctggcgctgctgctgctg	0.709			T	C15orf55	lethal midline carcinoma of young people								3	4	---	---	---	---						-	15349708	GCT	-	15349706	7	5	99	1	0	1	0	1	0	0	0	0	1504	1087	38	0	228	0	BRD4	19	15349706	In_Frame_Del	DEL	GCT	TCGA-DU-7302-01A-11D-2086-08	774970	15349706	43779277	47	4401											
RFXANK	8625	broad.mit.edu	37	chr19	19307810	19307810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actccaccactctcaccaacCggcagcgagggaacgaggtg	11	4	11	15	3	1	0	1	0	1	0	3	3	2	1	4	3	3	1	4	3	2	0			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr19:19307810C>T	uc002nls.3	+	3	731	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	RFXANK_uc002nlt.3_Missense_Mutation_p.R75W|RFXANK_uc002nlu.3_Missense_Mutation_p.R76W|RFXANK_uc002nlv.3_Missense_Mutation_p.R76W|RFXANK_uc021uqt.1_Missense_Mutation_p.R75W	NM_003721	NP_003712	O14593	RFXK_HUMAN	Homo sapiens regulatory factor X-associated ankyrin-containing protein (RFXANK), transcript variant 1, mRNA.	76						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14			Epithelial(12;0.00228)			TCTCACCAACCGGCAGCGAGG	0.617													23	185					0	0	1	0	0	T	19307810	C	T	19307810	3	4	99	1	0	0	0	0	1	0	0	0	13269	643	23	2	232	2	RFXANK	19	19307810	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08	3958104	19307810	39821173	48	4402											
FFAR3	2865	broad.mit.edu	37	chr19	35850577	35850577	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtggaggatctacgtgaCgcttctcagcaccctgaact	8	9	12	12	3	2	2	1	2	2	0	3	4	2	4	1	3	3	2	1	3	2	2	rs141433014		TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr19:35850577C>T	uc002nzd.3	+	1	860	c.785C>T	c.(784-786)aCg>aTg	p.T262M	FFAR3_uc021usm.1_Missense_Mutation_p.T262M	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA.	262						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			ATCTACGTGACGCTTCTCAGC	0.567													6	232					0	0	1	0	0	T	35850577	C	T	35850577	3	4	99	1	0	0	0	0	1	0	0	0	5829	536	19	1	787	1	FFAR3	19	35850577	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08	16542767	35850577	23278406	49	4403											
CIC	23152	broad.mit.edu	37	chr19	42798099	42798100	+	Frame_Shift_Del	DEL	AG	AG	-																															ccctccagcagggtcctgtcAgaagtggacttcgaagagcg																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr19:42798099_42798100delAG	uc002otf.1	+	16	4093_4094	c.4053_4054delAG	c.(4051-4056)tcagaafs	p.S1351fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGGTCCTGTCAGAAGTGGACTT	0.678			"Mis, F, S"		oligodendroglioma								64	73	---	---	---	---						-	42798100	AG	-	42798099	7	5	99	1	0	1	0	1	0	0	0	0	3424	175	7	0	4119	0	CIC	19	42798099	Frame_Shift_Del	DEL	AG	TCGA-DU-7302-01A-11D-2086-08	6947522	42798099	16330884	50	4404											
NKX2-2	4821	broad.mit.edu	37	chr20	21492574	21492574	+	Frame_Shift_Del	DEL	T	T	-																															gcggcgctcaccaagtccacTgctgggcctggaccaggggg																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr20:21492574delT	uc002wsi.3	-	1	1166	c.809delA	c.(808-810)cagfs	p.Q270fs		NM_002509	NP_002500	O95096	NKX22_HUMAN	Homo sapiens NK2 homeobox 2 (NKX2-2), mRNA.	270					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCAAGTCCACTGCTGGGCCTG	0.706													34	37	---	---	---	---						-	21492574	T	-	21492574	7	5	99	1	0	1	0	1	0	0	0	0	10450	1580	55	0	16	0	NKX2-2	20	21492574	Frame_Shift_Del	DEL	T	TCGA-DU-7302-01A-11D-2086-08		21492574	41532946	51	4405											
RGS19	10287	broad.mit.edu	37	chr20	62705360	62705362	+	In_Frame_Del	DEL	TTG	TTG	-																															cggacggctcctgcatcttcTtgttgatgccctcccgcaca																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr20:62705360_62705362delTTG	uc002yhy.3	-	5	765_767	c.498_500delCAA	c.(496-501)aacaag>aag	p.N166del	RGS19_uc002yhz.3_In_Frame_Del_p.N144del|RGS19_uc002yib.3_In_Frame_Del_p.N166del	NM_005873	NP_001034556	P49795	RGS19_HUMAN	Homo sapiens regulator of G-protein signaling 19 (RGS19), transcript variant 1, mRNA.	166	RGS.				G-protein coupled receptor protein signaling pathway|autophagy|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CTGCATCTTCTTGTTGATGCCCT	0.64													7	115	---	---	---	---						-	62705362	TTG	-	62705360	7	5	99	1	0	1	0	1	0	0	0	0	13301	1609	56	0	157	0	RGS19	20	62705360	In_Frame_Del	DEL	TTG	TCGA-DU-7302-01A-11D-2086-08	41212786	62705360	320160	52	4406											
CNKSR2	22866	broad.mit.edu	37	chrX	21627678	21627680	+	In_Frame_Del	DEL	GAG	GAG	-																															aacccccagaggtggaggaaGaggaggaggaggaggaggag																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chrX:21627678_21627680delGAG	uc004czx.2	+	19	3115_3117	c.2635_2637delGAG	c.(2635-2637)gagdel	p.E886del	CNKSR2_uc004czw.3_In_Frame_Del_p.E886del|CNKSR2_uc011mjn.2_In_Frame_Del_p.E837del|CNKSR2_uc011mjo.2_In_Frame_Del_p.E856del|CNKSR2_uc004czy.3_In_Frame_Del_p.E478del	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	886	Poly-Glu.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ggtggaggaagaggaggaggagg	0.517													7	73	---	---	---	---						-	21627680	GAG	-	21627678	7	5	99	1	0	1	0	1	0	0	0	0	3607	943	33	0	2713	0	CNKSR2	23	21627678	In_Frame_Del	DEL	GAG	TCGA-DU-7302-01A-11D-2086-08		21627678	133642882	53	4407											
KLHL15	80311	broad.mit.edu	37	chrX	24006740	24006740	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaataacacctacagcaaaTtcagagcgtggtacagacat	16	7	7	11	1	1	2	1	0	0	2	1	2	1	2	2	1	5	2	2	1	5	4			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chrX:24006740T>C	uc004dba.4	-	3	1369	c.1113A>G	c.(1111-1113)gaA>gaG	p.E371E		NM_030624	NP_085127	Q96M94	KLH15_HUMAN	Homo sapiens kelch-like 15 (Drosophila) (KLHL15), mRNA.	371										autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						CTACAGCAAATTCAGAGCGTG	0.458													87	109					0	0	1	0	0	C	24006740	T	C	24006740	2	2	99	1	0	0	0	0	0	0	0	1	8371	1490	52	3		3	KLHL15	23	24006740	Silent	SNP	T	TCGA-DU-7302-01A-11D-2086-08	2379062	24006740	131263820	54	4408											
BCOR	54880	broad.mit.edu	37	chrX	39932365	39932366	+	Frame_Shift_Del	DEL	CT	CT	-																															tctcatgggaccgggatctcCtctctggtttctcctcttta																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chrX:39932365_39932366delCT	uc004den.4	-	3	2525_2526	c.2233_2234delAG	c.(2233-2235)aggfs	p.R745fs	BCOR_uc004dep.4_Frame_Shift_Del_p.R745fs|BCOR_uc004deo.4_Frame_Shift_Del_p.R745fs|BCOR_uc004dem.4_Frame_Shift_Del_p.R745fs|BCOR_uc004deq.4_Frame_Shift_Del_p.R745fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	745					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						CCGGGATCTCCTCTCTGGTTTC	0.515			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						53	132	---	---	---	---						-	39932366	CT	-	39932365	7	5	99	1	0	1	0	1	0	0	0	0	1386	681	24	0	3081	0	BCOR	23	39932365	Frame_Shift_Del	DEL	CT	TCGA-DU-7302-01A-11D-2086-08	15925625	39932365	115338195	55	4409											
SOX3	6658	broad.mit.edu	37	chrX	139586763	139586763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctccagggccattttgcGccgctgcccgcgggaccata	5	9	12	15	4	1	0	0	0	1	0	2	1	1	1	5	2	2	2	5	2	1	4			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chrX:139586763G>A	uc004fbd.1	-	0	463	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C		NM_005634	NP_005625	P41225	SOX3_HUMAN	Homo sapiens SRY (sex determining region Y)-box 3 (SOX3), mRNA.	155					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding	p.R155C(2)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					GCCATTTTGCGCCGCTGCCCG	0.632													35	36					0	0	1	0	0	A	139586763	G	A	139586763	3	1	99	1	0	0	0	0	1	0	0	0	14951	1087	38	1	881	1	SOX3	23	139586763	Missense_Mutation	SNP	G	TCGA-DU-7302-01A-11D-2086-08	99654398	139586763	15683797	56	4410											
FLNA	2316	broad.mit.edu	37	chrX	153593776	153593776	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccctttgtgtacaccttgAagtcagctgtctccttcacc	6	13	7	15	1	3	1	2	1	1	0	4	1	3	1	4	0	2	2	4	0	2	4			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chrX:153593776A>T	uc004fkk.2	-	9	1757	c.1508T>A	c.(1507-1509)tTc>tAc	p.F503Y	FLNA_uc010nuu.1_Missense_Mutation_p.F503Y	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	503					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTACACCTTGAAGTCAGCTGT	0.672													8	85					0	0	1	0	0	T	153593776	A	T	153593776	3	4	99	1	0	0	0	0	1	0	0	0	5933	246	9	5	6591	5	FLNA	23	153593776	Missense_Mutation	SNP	A	TCGA-DU-7302-01A-11D-2086-08	14007013	153593776	1676784	57	4411											
FAM50A	9130	broad.mit.edu	37	chrX	153678570	153678570	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccttagtcccatgcaggcaAggtggtgctgaggagctggt	7	9	15	10	0	0	1	0	1	0	0	1	2	1	2	2	5	3	4	2	5	2	1			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chrX:153678570A>C	uc004fll.4	+	11	1024	c.914A>C	c.(913-915)aAg>aCg	p.K305T		NM_004699	NP_004690	Q14320	FA50A_HUMAN	Homo sapiens family with sequence similarity 50, member A (FAM50A), mRNA.	305					spermatogenesis	nucleus				breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATGCAGGCAAGGTGGTGCTG	0.607													6	129					0	0	1	0	0	C	153678570	A	C	153678570	3	2	99	1	0	0	0	0	1	0	0	0	5577	72	3	5	960	5	FAM50A	23	153678570	Missense_Mutation	SNP	A	TCGA-DU-7302-01A-11D-2086-08	84794	153678570	1591990	58	4412											
UBR4	23352	broad.mit.edu	37	chr1	19510670	19510670	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggaagccagacctaagaaCtgaaaggaacacacacaaaa	20	4	8	9	0	0	3	0	1	0	2	0	5	0	5	2	2	3	0	2	2	7	2			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:19510670C>T	uc001bbi.3	-	16	1943	c.1939_splice	c.e16-1	p.F647_splice		NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	647					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GACCTAAGAACTGAAAGGAAC	0.378													6	51					0	0	1	0	0	T	19510670	C	T	19510670	5	4	100	1	0	0	0	0	0	0	1	0	16901	579	20	3	13977	3	UBR4	1	19510670	Splice_Site	SNP	C	TCGA-DU-7304-01A-12D-2086-08		19510670	229739951	1	4413											
AKR7L	246181	broad.mit.edu	37	chr1	19595113	19595113	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggagggcggccgaggtcaTgctgggagcgctggcgccat	5	5	19	12	5	1	0	1	0	0	0	1	3	1	2	3	6	2	2	3	6	0	0			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:19595113T>G	uc021ohn.1	-	5	787	c.277A>C	c.(277-279)Atg>Ctg	p.M93L	AKR7L_uc021oho.1_Missense_Mutation_p.M85L					Homo sapiens aldo-keto reductase family 7-like (AKR7L), transcript variant 1, non-coding RNA.											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						GCCGAGGTCATGCTGGGAGCG	0.632													19	51					0	0	1	0	0	G	19595113	T	G	19595113	3	3	100	1	0	0	0	0	1	0	0	0	477	1464	51	5	216	5	AKR7L	1	19595113	Missense_Mutation	SNP	T	TCGA-DU-7304-01A-12D-2086-08	84443	19595113	229655508	2	4414											
ARID1A	8289	broad.mit.edu	37	chr1	27087503	27087503	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctcacctgcctggcatcCgaggcccttccccgtcccct	3	8	7	23	2	1	0	1	0	0	0	4	1	4	0	10	2	1	1	10	2	0	1			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:27087503C>T	uc001bmv.1	+	4	2450	c.2077C>T	c.(2077-2079)Cga>Tga	p.R693*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.R693*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.R693*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.R310*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	693					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.R693*(10)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCCTGGCATCCGAGGCCCTTC	0.602			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								8	114					0	0	1	0	0	T	27087503	C	T	27087503	4	4	100	1	0	0	0	0	0	1	0	0	913	644	23	2	2095	2	ARID1A	1	27087503	Nonsense_Mutation	SNP	C	TCGA-DU-7304-01A-12D-2086-08	7492390	27087503	222163118	3	4415											
PCSK9	255738	broad.mit.edu	37	chr1	55525160	55525160	+	Splice_Site	DEL	C	C	-																															ttccgtctttgactctaaggCccaagggggcaagctggtct																										TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:55525160delC	uc001cyf.2	+	10	1866	c.1504_splice	c.e10-1	p.A502_splice	PCSK9_uc010oom.2_Splice_Site	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	502					cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GACTCTAAGGCCCAAGGGGGC	0.557													2	4	---	---	---	---						-	55525160	C	-	55525160	8	5	100	1	0	1	0	1	0	0	1	0	11606	753	26	0	1543	0	PCSK9	1	55525160	Splice_Site	DEL	C	TCGA-DU-7304-01A-12D-2086-08	28437657	55525160	193725461	4	4416											
ADAM30	11085	broad.mit.edu	37	chr1	120437550	120437550	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggaacttgaattcccgtcGcagtactctgcaaggtcaca	11	9	9	12	2	2	1	1	1	1	0	4	2	3	2	1	2	3	3	1	2	4	3			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:120437550G>A	uc001eij.3	-	0	1598	c.1410C>T	c.(1408-1410)tgC>tgT	p.C470C		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	470	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AATTCCCGTCGCAGTACTCTG	0.483													13	74					0	0	1	0	0	A	120437550	G	A	120437550	2	1	100	1	0	0	0	0	0	0	0	1	248	1079	38	1		1	ADAM30	1	120437550	Silent	SNP	G	TCGA-DU-7304-01A-12D-2086-08	64912390	120437550	128813071	5	4417											
DAPL1	92196	broad.mit.edu	37	chr2	159660849	159660849	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaattggcaccttggaaagAcataccaaaaaaacaggatt	19	7	8	7	0	0	1	0	0	0	1	0	4	0	3	2	3	2	1	2	3	6	4			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr2:159660849A>G	uc002uaf.3	+	1	170	c.114A>G	c.(112-114)agA>agG	p.R38R		NM_001017920	NP_001017920	A0PJW8	DAPL1_HUMAN	Homo sapiens death associated protein-like 1 (DAPL1), mRNA.	38					apoptosis|cell differentiation					prostate(1)	1						CCTTGGAAAGACATACCAAAA	0.378													8	8					0	0	1	0	0	G	159660849	A	G	159660849	2	3	100	1	0	0	0	0	0	0	0	1	4238	272	10	3		3	DAPL1	2	159660849	Silent	SNP	A	TCGA-DU-7304-01A-12D-2086-08		159660849	83538524	6	4418											
TTN	7273	broad.mit.edu	37	chr2	179592377	179592377	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtaacatggcaagtatacTgtccagtcttagaagcatcc	12	11	9	9	0	1	1	0	0	1	1	3	1	3	1	2	2	3	4	2	2	6	4			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr2:179592377T>C	uc021vsy.1	-	64	16421	c.16196A>G	c.(16195-16197)cAg>cGg	p.Q5399R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Q2060R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6326	Ig-like 34.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S5398L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAAGTATACTGTCCAGTCTT	0.418													12	239					0	0	1	0	0	C	179592377	T	C	179592377	3	2	100	1	0	0	0	0	1	0	0	0	16732	1580	55	4	84781	4	TTN	2	179592377	Missense_Mutation	SNP	T	TCGA-DU-7304-01A-12D-2086-08	19931528	179592377	63606996	7	4419											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr2:209113113G>C	uc002vcs.3	-	3	640	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_uc002vct.3_Missense_Mutation_p.R132G|IDH1_uc002vcu.3_Missense_Mutation_p.R132G	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								35	59					0	0	1	0	0	C	209113113	G	C	209113113	3	2	100	1	0	0	0	0	1	0	0	0	7494	1058	37	5	878	5	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-DU-7304-01A-12D-2086-08	29520736	209113113	34086260	8	4420											
SP140	11262	broad.mit.edu	37	chr2	231108509	231108509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaggaagccttgagctcctCgccaaggtgtgagccaggta	9	8	13	11	1	1	2	1	2	0	0	3	3	2	3	4	3	3	2	4	3	3	2			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr2:231108509C>T	uc002vql.3	+	4	669	c.554C>T	c.(553-555)tCg>tTg	p.S185L	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqk.2_Missense_Mutation_p.S185L|SP140_uc002vqn.3_Missense_Mutation_p.S185L|SP140_uc002vqm.3_Missense_Mutation_p.S185L|SP140_uc010fxl.3_Missense_Mutation_p.S185L	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	185					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TTGAGCTCCTCGCCAAGGTGT	0.488													8	74					0	0	1	0	0	T	231108509	C	T	231108509	3	4	100	1	0	0	0	0	1	0	0	0	14962	893	31	2	689	2	SP140	2	231108509	Missense_Mutation	SNP	C	TCGA-DU-7304-01A-12D-2086-08	21995396	231108509	12090864	9	4421											
CAND2	23066	broad.mit.edu	37	chr3	12858002	12858002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacttgcctatcctcctgcCacctgtgatggcctgtgtgg	5	12	10	14	0	0	1	0	1	0	0	2	1	2	1	6	2	2	0	6	2	1	2			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr3:12858002C>T	uc003bxk.2	+	9	1620	c.1571C>T	c.(1570-1572)cCa>cTa	p.P524L	CAND2_uc003bxj.2_Missense_Mutation_p.P431L	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	524					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ATCCTCCTGCCACCTGTGATG	0.642													7	103					0	0	1	0	0	T	12858002	C	T	12858002	3	4	100	1	0	0	0	0	1	0	0	0	2616	594	21	3	1609	3	CAND2	3	12858002	Missense_Mutation	SNP	C	TCGA-DU-7304-01A-12D-2086-08		12858002	185164428	10	4422											
ACPP	55	broad.mit.edu	37	chr3	132051045	132051045	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctactctaggtttatattCgaagcacagacgttgaccgg	10	12	9	10	3	1	2	0	1	1	1	3	3	2	2	2	2	2	3	2	2	5	7			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr3:132051045C>T	uc010htp.2	+	3	403	c.313C>T	c.(313-315)Cga>Tga	p.R105*	ACPP_uc003eon.3_Nonsense_Mutation_p.R105*|ACPP_uc003eop.4_Nonsense_Mutation_p.R105*	NM_001099	NP_001090	P15309	PPAP_HUMAN	Homo sapiens acid phosphatase, prostate (ACPP), transcript variant 1, mRNA.	105						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	p.R105*(2)|p.R105Q(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						GGTTTATATTCGAAGCACAGA	0.458													7	138					0	0	1	0	0	T	132051045	C	T	132051045	4	4	100	1	0	0	0	0	0	1	0	0	167	876	31	2	327	2	ACPP	3	132051045	Nonsense_Mutation	SNP	C	TCGA-DU-7304-01A-12D-2086-08	119193043	132051045	65971385	11	4423											
C3orf58	205428	broad.mit.edu	37	chr3	143708579	143708579	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaaagatggccggctcgagGccttgctggatgagtgtgcc	7	8	15	11	2	0	2	0	1	0	1	1	4	0	3	4	4	2	2	4	4	1	1			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr3:143708579G>C	uc003evo.3	+	2	1724	c.1189G>C	c.(1189-1191)Gcc>Ccc	p.A397P	C3orf58_uc011bnl.2_Missense_Mutation_p.A188P	NM_173552	NP_775823	Q8NDZ4	CC058_HUMAN	Homo sapiens chromosome 3 open reading frame 58 (C3orf58), transcript variant 1, mRNA.	397						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCGGCTCGAGGCCTTGCTGGA	0.507													29	55					0	0	1	0	0	C	143708579	G	C	143708579	3	2	100	1	0	0	0	0	1	0	0	0	2236	1203	42	5	1233	5	C3orf58	3	143708579	Missense_Mutation	SNP	G	TCGA-DU-7304-01A-12D-2086-08	11657534	143708579	54313851	12	4424											
LRRC31	79782	broad.mit.edu	37	chr3	169572755	169572755	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcctcagctcacccaaataCctaaaagcagcatctacaaa	16	8	3	14	0	3	0	2	0	1	0	4	0	4	0	3	0	5	3	3	0	6	4			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr3:169572755C>T	uc003fgc.1	-	5	902	c.837G>A	c.(835-837)agG>agA	p.R279R	LRRC31_uc010hwp.1_Silent_p.R223R	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA.	279										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CACCCAAATACCTAAAAGCAG	0.478													3	38					0	0	1	0	0	T	169572755	C	T	169572755	2	4	100	1	0	0	0	0	0	0	0	1	8986	506	18	3		3	LRRC31	3	169572755	Silent	SNP	C	TCGA-DU-7304-01A-12D-2086-08	25864176	169572755	28449675	13	4425											
MAP3K1	4214	broad.mit.edu	37	chr5	56181765	56181765	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctattgtcttatagggggatCggtggctcatttgctgagta	7	15	13	6	1	2	1	1	1	1	0	3	2	2	2	0	4	1	3	0	4	4	6			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr5:56181765C>T	uc003jqw.4	+	16	4490	c.3989C>T	c.(3988-3990)tCg>tTg	p.S1330L		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	1330	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	p.Q1329fs*12(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ATAGGGGGATCGGTGGCTCAT	0.343													22	36					0	0	1	0	0	T	56181765	C	T	56181765	3	4	100	1	0	0	0	0	1	0	0	0	9243	893	31	2	4055	2	MAP3K1	5	56181765	Missense_Mutation	SNP	C	TCGA-DU-7304-01A-12D-2086-08		56181765	124733495	14	4426											
KIF6	221458	broad.mit.edu	37	chr6	39353431	39353431	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtatatgccgctgggtgaTttcttccttcaggtgacctg	5	15	11	10	1	2	2	1	2	1	0	3	2	3	2	3	2	1	2	3	2	2	5			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr6:39353431T>C	uc003oot.2	-	15	1923	c.1828A>G	c.(1828-1830)Atc>Gtc	p.I610V	KIF6_uc003oos.2_Missense_Mutation_p.I61V|KIF6_uc010jwz.1_5'UTR|KIF6_uc010jxa.1_Missense_Mutation_p.I401V|KIF6_uc011dua.1_Intron|KIF6_uc010jxb.1_Missense_Mutation_p.I554V	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	610					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CGCTGGGTGATTTCTTCCTTC	0.463													3	69					0	0	1	0	0	C	39353431	T	C	39353431	3	2	100	1	0	0	0	0	1	0	0	0	8308	1493	52	3	648	3	KIF6	6	39353431	Missense_Mutation	SNP	T	TCGA-DU-7304-01A-12D-2086-08		39353431	131761636	15	4427											
ATG5	9474	broad.mit.edu	37	chr6	106727551	106727551	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaccattttgcaatcccaTccagagttgcttgtgatctt	8	16	6	11	0	1	2	0	1	1	1	3	2	3	2	3	0	3	3	3	0	2	6			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr6:106727551T>C	uc003prf.3	-	4	816	c.463A>G	c.(463-465)Atg>Gtg	p.M155V	ATG5_uc010kdb.3_Missense_Mutation_p.M155V|ATG5_uc003prg.3_Missense_Mutation_p.M77V|ATG5_uc010kdc.3_Intron	NM_004849	NP_004840	Q9H1Y0	ATG5_HUMAN	Homo sapiens ATG5 autophagy related 5 homolog (S. cerevisiae) (ATG5), mRNA.	155					apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		TGCAATCCCATCCAGAGTTGC	0.303													19	24					0	0	1	0	0	C	106727551	T	C	106727551	3	2	100	1	0	0	0	0	1	0	0	0	1100	1435	50	3	380	3	ATG5	6	106727551	Missense_Mutation	SNP	T	TCGA-DU-7304-01A-12D-2086-08	67374120	106727551	64387516	16	4428											
MARCKS	4082	broad.mit.edu	37	chr6	114181209	114181210	+	Frame_Shift_Ins	INS	-	-	A																															cgcccagcaacgagaccccgINSaaaaaaaaaaagaagcgctt																										TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr6:114181209_114181210insA	uc003pvy.4	+	1	848_849	c.453_454insA	c.(451-456)ccgaaafs	p.P151fs		NM_002356	NP_002347	P29966	MARCS_HUMAN	Homo sapiens myristoylated alanine-rich protein kinase C substrate (MARCKS), mRNA.	151					energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding	p.K155fs*12(1)		breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		ACGAGACCCCGAAAAAAAAAAA	0.614													3	5	---	---	---	---						A	114181210	-	A	114181209	7	5	100	1	0	1	1	0	0	0	0	0	9309	1045	37	0	459	0	MARCKS	6	114181209	Frame_Shift_Ins	INS	-	TCGA-DU-7304-01A-12D-2086-08	7453658	114181209	56933858	17	4429											
AEBP1	165	broad.mit.edu	37	chr7	44153637	44153637	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaggagtcggagactgagaCctacacagaggtggtgacag	12	5	17	7	1	0	4	0	2	0	3	1	8	0	6	1	5	1	0	1	5	1	1	rs149601977		TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr7:44153637C>A	uc003tkb.3	+	20	3559	c.3254C>A	c.(3253-3255)aCc>aAc	p.T1085N	AEBP1_uc003tkc.4_Missense_Mutation_p.T660N|AEBP1_uc003tkd.3_Missense_Mutation_p.T335N	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	Homo sapiens AE binding protein 1 (AEBP1), mRNA.	1085	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GAGACTGAGACCTACACAGAG	0.627													3	46					1	1	1	1	0	A	44153637	C	A	44153637	3	1	100	1	0	0	0	0	1	0	0	0	349	507	18	5	3336	5	AEBP1	7	44153637	Missense_Mutation	SNP	C	TCGA-DU-7304-01A-12D-2086-08		44153637	114985026	18	4430											
RAPGEF1	2889	broad.mit.edu	37	chr9	134501730	134501730	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gactctggcaacgggctaagGttccaggccgtctgctgagg	7	8	15	11	2	2	1	0	1	2	0	3	2	3	1	2	5	2	4	2	5	2	2			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr9:134501730G>A	uc022bos.1	-	9	1443	c.1284C>T	c.(1282-1284)aaC>aaT	p.N428N	RAPGEF1_uc022bot.1_Silent_p.N410N|RAPGEF1_uc010mzm.3_Non-coding_Transcript|RAPGEF1_uc022bou.1_Silent_p.N415N|RAPGEF1_uc022bov.1_Silent_p.N415N	NM_198679	NP_941372	Q13905	RPGF1_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA.	410					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		ACGGGCTAAGGTTCCAGGCCG	0.567													6	69					0	0	1	0	0	A	134501730	G	A	134501730	2	1	100	1	0	0	0	0	0	0	0	1	13043	1252	44	3		3	RAPGEF1	9	134501730	Silent	SNP	G	TCGA-DU-7304-01A-12D-2086-08		134501730	6711701	19	4431											
RAPGEF1	2889	broad.mit.edu	37	chr9	134501807	134501807	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcatagtcgggatcatagtGgtctgcagttacaacagggg	10	11	13	7	1	3	0	2	0	1	0	4	1	3	1	0	4	3	2	0	4	4	4			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr9:134501807G>A	uc022bos.1	-	9	1366	c.1207C>T	c.(1207-1209)Cac>Tac	p.H403Y	RAPGEF1_uc022bot.1_Missense_Mutation_p.H385Y|RAPGEF1_uc010mzm.3_Non-coding_Transcript|RAPGEF1_uc022bou.1_Missense_Mutation_p.H390Y|RAPGEF1_uc022bov.1_Missense_Mutation_p.H390Y	NM_198679	NP_941372	Q13905	RPGF1_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA.	385					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GGATCATAGTGGTCTGCAGTT	0.592													6	104					0	0	1	0	0	A	134501807	G	A	134501807	3	1	100	1	0	0	0	0	1	0	0	0	13043	1348	47	3	2140	3	RAPGEF1	9	134501807	Missense_Mutation	SNP	G	TCGA-DU-7304-01A-12D-2086-08	77	134501807	6711624	20	4432											
OIT3	170392	broad.mit.edu	37	chr10	74673065	74673065	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggccctttttctctgcaGtccctgtgttgtgcaaatca	6	15	9	11	0	2	0	1	0	1	0	4	0	3	0	2	1	2	3	2	1	1	3			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr10:74673065G>C	uc001jte.1	+	6	1009	c.791_splice	c.e6-1	p.V264_splice	OIT3_uc009xqs.1_Splice_Site	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	Homo sapiens oncoprotein induced transcript 3 (OIT3), mRNA.	264	ZP.					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					TTTCTCTGCAGTCCCTGTGTT	0.502													5	231					0	0	1	0	0	C	74673065	G	C	74673065	5	2	100	1	0	0	0	0	0	0	1	0	10849	1043	36	5	812	5	OIT3	10	74673065	Splice_Site	SNP	G	TCGA-DU-7304-01A-12D-2086-08		74673065	60861682	21	4433											
NELL1	4745	broad.mit.edu	37	chr11	20950023	20950023	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagtgctgtaaggtctgccGacgtaagtactgactgaggg	9	9	14	9	2	1	2	0	2	1	0	1	3	1	2	2	2	3	4	2	2	3	3			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr11:20950023G>A	uc009yid.3	+	9	1232	c.1079G>A	c.(1078-1080)cGa>cAa	p.R360Q	NELL1_uc010rdp.2_Missense_Mutation_p.R92Q|NELL1_uc001mqe.3_Missense_Mutation_p.R332Q|NELL1_uc001mqf.3_Missense_Mutation_p.R332Q|NELL1_uc010rdo.2_Missense_Mutation_p.R275Q	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	332	VWFC 2.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.R332Q(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AAGGTCTGCCGACGTAAGTAC	0.488													31	54					0	0	1	0	0	A	20950023	G	A	20950023	3	1	100	1	0	0	0	0	1	0	0	0	10333	1058	37	2	1029	2	NELL1	11	20950023	Missense_Mutation	SNP	G	TCGA-DU-7304-01A-12D-2086-08		20950023	114056493	22	4434											
FGF23	8074	broad.mit.edu	37	chr12	4479524	4479524	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgaccctagatgaacttggcGaaggggcggcagccttccgg	8	6	15	12	4	0	2	0	1	0	1	1	4	1	2	3	5	2	1	3	5	3	3			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr12:4479524G>A	uc001qmq.1	-	2	887	c.741C>T	c.(739-741)ttC>ttT	p.F247F		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	Homo sapiens fibroblast growth factor 23 (FGF23), mRNA.	247					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	p.F247F(2)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TGAACTTGGCGAAGGGGCGGC	0.627													6	121					0	0	1	0	0	A	4479524	G	A	4479524	2	1	100	1	0	0	0	0	0	0	0	1	5852	1049	37	2		2	FGF23	12	4479524	Silent	SNP	G	TCGA-DU-7304-01A-12D-2086-08		4479524	129372371	23	4435											
SLCO1A2	6579	broad.mit.edu	37	chr12	21422506	21422506	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttagttttcaattcatcAtctttcaaaaccgtggactt	12	17	4	8	1	5	0	4	0	1	0	5	1	5	1	1	1	1	1	1	1	5	7			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr12:21422506A>G	uc001rer.3	-	13	2240	c.1989T>C	c.(1987-1989)gaT>gaC	p.D663D	SLCO1A2_uc010siq.2_Silent_p.D531D|SLCO1A2_uc001res.3_Silent_p.D663D|SLCO1A2_uc010sio.2_Silent_p.D531D|SLCO1A2_uc010sip.2_Silent_p.D531D	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	663					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TCAATTCATCATCTTTCAAAA	0.308													37	56					0	0	1	0	0	G	21422506	A	G	21422506	2	3	100	1	0	0	0	0	0	0	0	1	14722	214	8	3		3	SLCO1A2	12	21422506	Silent	SNP	A	TCGA-DU-7304-01A-12D-2086-08	16942982	21422506	112429389	24	4436											
NR4A1	3164	broad.mit.edu	37	chr12	52451162	52451164	+	In_Frame_Del	DEL	TCT	TCT	-																															gccaggcgagggcaagctcaTcttctgctcaggcctggtgc																										TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr12:52451162_52451164delTCT	uc001rzs.3	+	6	1707_1709	c.1388_1390delTCT	c.(1387-1392)atcttc>atc	p.F464del	NR4A1_uc010sno.2_In_Frame_Del_p.F477del|NR4A1_uc001rzt.3_In_Frame_Del_p.F464del|NR4A1_uc009zmc.3_In_Frame_Del_p.S78del	NM_002135	NP_775180	P22736	NR4A1_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 1 (NR4A1), transcript variant 1, mRNA.	464					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GGCAAGCTCATCTTCTGCTCAGG	0.611													38	77	---	---	---	---						-	52451164	TCT	-	52451162	7	5	100	1	0	1	0	1	0	0	0	0	10632	1435	50	0	1406	0	NR4A1	12	52451162	In_Frame_Del	DEL	TCT	TCGA-DU-7304-01A-12D-2086-08	31028656	52451162	81400733	25	4437											
ACACB	32	broad.mit.edu	37	chr12	109647094	109647094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctgtggagaagtctgtccGcagggtgatggcccagtatg	7	9	15	10	1	1	2	0	1	1	1	2	3	2	2	3	3	0	2	3	3	2	1			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr12:109647094G>A	uc001tob.3	+	20	3304	c.3185G>A	c.(3184-3186)cGc>cAc	p.R1062H	ACACB_uc001toc.3_Missense_Mutation_p.R1062H	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1062					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AAGTCTGTCCGCAGGGTGATG	0.667													3	51					0	0	1	0	0	A	109647094	G	A	109647094	3	1	100	1	0	0	0	0	1	0	0	0	107	1087	38	1	3263	1	ACACB	12	109647094	Missense_Mutation	SNP	G	TCGA-DU-7304-01A-12D-2086-08	57195932	109647094	24204801	26	4438											
FAM124A	220108	broad.mit.edu	37	chr13	51825705	51825705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggaggccatcgacaacGtcctggcgtggatccacccc	8	6	12	15	3	0	0	0	0	0	0	3	3	2	2	5	4	2	1	5	4	1	0			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr13:51825705G>A	uc001vff.2	+	3	478	c.310G>A	c.(310-312)Gtc>Atc	p.V104I	FAM124A_uc001vfe.3_Missense_Mutation_p.V68I|FAM124A_uc001vfg.2_Missense_Mutation_p.V68I	NM_145019	NP_659456	Q86V42	F124A_HUMAN	Homo sapiens family with sequence similarity 124A (FAM124A), transcript variant 1, mRNA.	68										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CATCGACAACGTCCTGGCGTG	0.682													9	15					0	0	1	0	0	A	51825705	G	A	51825705	3	1	100	1	0	0	0	0	1	0	0	0	5425	1145	40	1	324	1	FAM124A	13	51825705	Missense_Mutation	SNP	G	TCGA-DU-7304-01A-12D-2086-08		51825705	63344173	27	4439											
TPPP2	122664	broad.mit.edu	37	chr14	21498757	21498757	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccatggcatcagaggcagAaaaaacattccatcggtttg	14	8	10	9	1	1	2	1	0	0	2	3	3	2	2	2	3	1	3	2	3	3	2			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr14:21498757A>C	uc001vzh.3	+	1	205	c.17A>C	c.(16-18)gAa>gCa	p.E6A	NDRG2_uc010tll.2_Intron	NM_173846	NP_776245	P59282	TPPP2_HUMAN	Homo sapiens tubulin polymerization-promoting protein family member 2 (TPPP2), mRNA.	6						cytoplasm				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TCAGAGGCAGAAAAAACATTC	0.522													3	21					0	0	1	0	0	C	21498757	A	C	21498757	3	2	100	1	0	0	0	0	1	0	0	0	16411	246	9	5	19	5	TPPP2	14	21498757	Missense_Mutation	SNP	A	TCGA-DU-7304-01A-12D-2086-08		21498757	85850783	28	4440											
PLEKHG3	26030	broad.mit.edu	37	chr14	65198857	65198857	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactggactcaccacatcaaGaggctcatcctagagaacca	15	6	7	13	0	3	2	3	0	0	2	4	4	4	3	3	2	2	1	3	2	4	1			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr14:65198857G>C	uc001xhp.2	+	8	1209	c.1170G>C	c.(1168-1170)aaG>aaC	p.K390N	PLEKHG3_uc001xhn.1_Missense_Mutation_p.K334N|PLEKHG3_uc001xho.1_Missense_Mutation_p.K390N|PLEKHG3_uc010aqh.1_5'UTR	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA.	390	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		ACCACATCAAGAGGCTCATCC	0.557													7	77					0	0	1	0	0	C	65198857	G	C	65198857	3	2	100	1	0	0	0	0	1	0	0	0	12070	933	33	5	1028	5	PLEKHG3	14	65198857	Missense_Mutation	SNP	G	TCGA-DU-7304-01A-12D-2086-08	43700100	65198857	42150683	29	4441											
ATP6V1D	51382	broad.mit.edu	37	chr14	67807223	67807223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcaagagtacgttcaatcCggggaatgatgactagaata	16	8	11	6	2	1	4	1	2	0	2	2	5	2	5	1	2	2	3	1	2	8	4	rs144396308	byFrequency	TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr14:67807223C>T	uc001xjf.3	-	7	841	c.536G>A	c.(535-537)cGg>cAg	p.R179Q		NM_015994	NP_057078	Q9Y5K8	VATD_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D (ATP6V1D), mRNA.	179					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain|vacuolar proton-transporting V-type ATPase complex	protein binding|proton-transporting ATPase activity, rotational mechanism	p.R179Q(2)		lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	7				all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957)		ACGTTCAATCCGGGGAATGAT	0.328													34	54					0	0	1	0	0	T	67807223	C	T	67807223	3	4	100	1	0	0	0	0	1	0	0	0	1182	652	23	2	215	2	ATP6V1D	14	67807223	Missense_Mutation	SNP	C	TCGA-DU-7304-01A-12D-2086-08	2608366	67807223	39542317	30	4442											
SPTBN5	51332	broad.mit.edu	37	chr15	42147439	42147439	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccttgacaccctccaggtCctgcccgtagtcctgggact	6	9	9	17	1	0	1	0	1	0	0	3	2	3	2	6	2	1	1	6	2	1	2			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr15:42147439C>A	uc001zos.3	-	54	9634	c.9301G>T	c.(9301-9303)Gac>Tac	p.D3101Y		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	3136					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCCTCCAGGTCCTGCCCGTAG	0.652													3	52					1	1	1	1	0	A	42147439	C	A	42147439	3	1	100	1	0	0	0	0	1	0	0	0	15121	855	30	5	1674	5	SPTBN5	15	42147439	Missense_Mutation	SNP	C	TCGA-DU-7304-01A-12D-2086-08		42147439	60383953	31	4443											
SPTBN5	51332	broad.mit.edu	37	chr15	42169508	42169508	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctcttgggagtctgggcAgtccaaggctgccatgggct	6	9	14	12	0	2	0	0	0	2	0	3	1	3	1	3	4	1	3	3	4	1	1			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr15:42169508A>G	uc001zos.3	-	17	3745	c.3412T>C	c.(3412-3414)Tgc>Cgc	p.C1138R		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	1173					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GAGTCTGGGCAGTCCAAGGCT	0.632													7	10					0	0	1	0	0	G	42169508	A	G	42169508	3	3	100	1	0	0	0	0	1	0	0	0	15121	188	7	4	7711	4	SPTBN5	15	42169508	Missense_Mutation	SNP	A	TCGA-DU-7304-01A-12D-2086-08	22069	42169508	60361884	32	4444											
HAS3	3038	broad.mit.edu	37	chr16	69148261	69148261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcagatcctcaacaagtacGactcatggatttccttcctg	10	12	7	12	1	2	1	2	0	0	1	5	3	5	2	3	1	3	2	3	1	3	3			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr16:69148261G>A	uc010cfh.3	+	3	978	c.754G>A	c.(754-756)Gac>Aac	p.D252N	HAS3_uc002ewk.3_Intron|HAS3_uc002ewl.3_Missense_Mutation_p.D252N	NM_001199280	NP_001186209	O00219	HAS3_HUMAN	Homo sapiens hyaluronan synthase 3 (HAS3), transcript variant 3, mRNA.	252					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		CAACAAGTACGACTCATGGAT	0.557													76	115					0	0	1	0	0	A	69148261	G	A	69148261	3	1	100	1	0	0	0	0	1	0	0	0	6963	1058	37	2	764	2	HAS3	16	69148261	Missense_Mutation	SNP	G	TCGA-DU-7304-01A-12D-2086-08		69148261	21206492	33	4445											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			22	15					0	0	1	0	0	A	7577121	G	A	7577121	3	1	100	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DU-7304-01A-12D-2086-08		7577121	73618089	34	4446											
TP53	7157	broad.mit.edu	37	chr17	7579311	7579311	+	Splice_Site	DEL	C	C	-																															cagcccctcagggcaactgaCcgtgcaagtcacagacttgg																								rs68140816		TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr17:7579311delC	uc002gim.2	-	4	569	c.375_splice	c.e4+1	p.T125_splice	TP53_uc002gig.1_Splice_Site_p.T125_splice|TP53_uc002gih.3_Splice_Site_p.T125_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Splice_Site_p.T125_splice|TP53_uc010cnh.1_Splice_Site_p.T125_splice|TP53_uc002gij.2_Splice_Site_p.T125_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Splice_Site_p.T86_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		GGGCAACTGACCGTGCAAGTC	0.532		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)			47	60	---	---	---	---						-	7579311	C	-	7579311	8	5	100	1	0	1	0	1	0	0	1	0	16378	521	18	0	926	0	TP53	17	7579311	Splice_Site	DEL	C	TCGA-DU-7304-01A-12D-2086-08	2190	7579311	73615899	35	4447											
USP36	57602	broad.mit.edu	37	chr17	76832339	76832339	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgaactcgattttctgtaaaAggaccttcttggcagaggag	11	11	11	8	2	2	1	0	0	2	1	3	5	2	3	1	3	1	2	1	3	3	5			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr17:76832339A>G	uc002jvz.1	-	2	432	c.107T>C	c.(106-108)cTt>cCt	p.L36P	USP36_uc002jwa.1_Missense_Mutation_p.L36P|USP36_uc002jwd.1_Missense_Mutation_p.L36P	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	Homo sapiens ubiquitin specific peptidase 36 (USP36), mRNA.	36					ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TTTCTGTAAAAGGACCTTCTT	0.517													3	48					0	0	1	0	0	G	76832339	A	G	76832339	3	3	100	1	0	0	0	0	1	0	0	0	17064	72	3	4	3336	4	USP36	17	76832339	Missense_Mutation	SNP	A	TCGA-DU-7304-01A-12D-2086-08	69253028	76832339	4362871	36	4448											
PNPLA6	10908	broad.mit.edu	37	chr19	7606923	7606923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggcccctctgctgagcCgctgcgtctccatgccaggg	3	8	12	18	3	2	1	0	1	2	0	4	1	2	1	6	2	4	2	6	2	0	0			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr19:7606923C>T	uc010xjq.2	+	11	1489	c.1249C>T	c.(1249-1251)Cgc>Tgc	p.R417C	PNPLA6_uc002mgq.2_Missense_Mutation_p.R369C|PNPLA6_uc010xjp.2_Missense_Mutation_p.R369C|PNPLA6_uc002mgr.2_Missense_Mutation_p.R369C|PNPLA6_uc002mgs.3_Missense_Mutation_p.R408C	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	408					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TCTGCTGAGCCGCTGCGTCTC	0.642													26	41					0	0	1	0	0	T	7606923	C	T	7606923	3	4	100	1	0	0	0	0	1	0	0	0	12169	652	23	2	1291	2	PNPLA6	19	7606923	Missense_Mutation	SNP	C	TCGA-DU-7304-01A-12D-2086-08		7606923	51522060	37	4449											
CPAMD8	27151	broad.mit.edu	37	chr19	17122404	17122404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccatgctggccactcacctCggtgctggggtctgtacaca	6	10	11	14	1	2	0	1	0	1	0	4	0	3	0	3	4	3	3	3	4	1	1			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr19:17122404C>T	uc002nfb.3	-	3	604	c.572G>A	c.(571-573)cGa>cAa	p.R191Q		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	144						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCACTCACCTCGGTGCTGGGG	0.602													9	158					0	0	1	0	0	T	17122404	C	T	17122404	3	4	100	1	0	0	0	0	1	0	0	0	3795	884	31	2	5382	2	CPAMD8	19	17122404	Missense_Mutation	SNP	C	TCGA-DU-7304-01A-12D-2086-08	9515481	17122404	42006579	38	4450											
CBY1	25776	broad.mit.edu	37	chr22	39067165	39067165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaagagaacaatctcttgcGgctgaaagtggacatcttat	13	10	11	7	1	2	2	0	1	2	1	3	5	2	4	0	3	2	1	0	3	5	2	rs140554782		TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr22:39067165G>A	uc003awb.3	+	4	551	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	CBY1_uc011any.1_3'UTR|CBY1_uc003awc.3_Missense_Mutation_p.R92Q|BC036921_uc003awd.3_Non-coding_Transcript	NM_001002880	NP_056188	Q9Y3M2	CBY1_HUMAN	Homo sapiens chibby homolog 1 (Drosophila) (CBY1), transcript variant 2, mRNA.	92	Minimal region for the interaction with PKD2.				cardiac muscle cell differentiation|fat cell differentiation|negative regulation of transcription, DNA-dependent|protein localization	nuclear speck|trans-Golgi network	beta-catenin binding|identical protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	Melanoma(58;0.04)					AATCTCTTGCGGCTGAAAGTG	0.562													7	122					0	0	1	0	0	A	39067165	G	A	39067165	3	1	100	1	0	0	0	0	1	0	0	0	2725	1116	39	2	285	2	CBY1	22	39067165	Missense_Mutation	SNP	G	TCGA-DU-7304-01A-12D-2086-08		39067165	12237401	39	4451											
ATRX	546	broad.mit.edu	37	chrX	76889091	76889091	+	Frame_Shift_Del	DEL	T	T	-																															cttttaatccctcttgccacTtctcaaattcattcatccaa																										TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chrX:76889091delT	uc004ecp.4	-	17	5151	c.4919delA	c.(4918-4920)aagfs	p.K1640fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K1602fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K1425fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1640	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTCTTGCCACTTCTCAAATTC	0.318			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						46	14	---	---	---	---						-	76889091	T	-	76889091	7	5	100	1	0	1	0	1	0	0	0	0	1208	1609	56	0	2631	0	ATRX	23	76889091	Frame_Shift_Del	DEL	T	TCGA-DU-7304-01A-12D-2086-08		76889091	78381469	40	4452											
MECP2	4204	broad.mit.edu	37	chrX	153297774	153297774	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgggtccccggtcacggatGatggagcgccgctgtttggg	5	9	17	10	4	1	1	1	1	0	0	2	3	2	3	3	5	1	2	3	5	0	1			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chrX:153297774G>A	uc004fjv.2	-	2	487	c.261C>T	c.(259-261)atC>atT	p.I87I	MECP2_uc004fjw.2_Silent_p.I99I	NM_004992	NP_004983	P51608	MECP2_HUMAN	Homo sapiens methyl CpG binding protein 2 (Rett syndrome) (MECP2), transcript variant 1, mRNA.	87					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein N-terminus binding|protein domain specific binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTCACGGATGATGGAGCGCC	0.617													45	12					0	0	1	0	0	A	153297774	G	A	153297774	2	1	100	1	0	0	0	0	0	0	0	1	9423	1280	45	3		3	MECP2	23	153297774	Silent	SNP	G	TCGA-DU-7304-01A-12D-2086-08	76408683	153297774	1972786	41	4453											
VWA1	64856	broad.mit.edu	37	chr1	1374627	1374627	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctgccagggaacgccacGgactggatctgggccggcct	7	5	15	14	3	1	0	0	0	1	0	1	3	1	3	4	5	3	1	4	5	1	0			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:1374627G>A	uc001afs.3	+	2	1024	c.798G>A	c.(796-798)acG>acA	p.T266T	VWA1_uc001afr.3_3'UTR	NM_022834	NP_073745	Q6PCB0	VWA1_HUMAN	Homo sapiens von Willebrand factor A domain containing 1 (VWA1), transcript variant 1, mRNA.	266	Fibronectin type-III 1.					basement membrane				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGAACGCCACGGACTGGATCT	0.697													10	14					0	0	1	0	0	A	1374627	G	A	1374627	2	1	101	1	0	0	0	0	0	0	0	1	17235	1103	39	2		2	VWA1	1	1374627	Silent	SNP	G	TCGA-DU-7306-01A-11D-2086-08		1374627	247875994	1	4454											
MFN2	9927	broad.mit.edu	37	chr1	12071583	12071583	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttggttggacagtgagctCaacatgttcacacaccagta	11	10	11	9	0	2	1	2	1	0	0	2	2	2	2	1	3	2	5	1	3	2	4			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:12071583C>T	uc001atn.4	+	18	2688	c.2235C>T	c.(2233-2235)ctC>ctT	p.L745L	MFN2_uc009vni.3_Silent_p.L745L	NM_014874	NP_055689	O95140	MFN2_HUMAN	Homo sapiens mitofusin 2 (MFN2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	745					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		ACAGTGAGCTCAACATGTTCA	0.537													46	75					0	0	1	0	0	T	12071583	C	T	12071583	2	4	101	1	0	0	0	0	0	0	0	1	9524	813	29	3		3	MFN2	1	12071583	Silent	SNP	C	TCGA-DU-7306-01A-11D-2086-08	10696956	12071583	237179038	2	4455											
PRAMEF4	400735	broad.mit.edu	37	chr1	12943051	12943051	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccaggactgcaccatcagCttcagggcctcacagcgtct	8	7	11	15	1	4	0	3	0	1	0	4	1	4	1	3	3	3	2	3	3	0	1			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:12943051C>T	uc001aun.2	-	1	236	c.165G>A	c.(163-165)aaG>aaA	p.K55K		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	55										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCACCATCAGCTTCAGGGCCT	0.602													5	139					0	0	1	0	0	T	12943051	C	T	12943051	2	4	101	1	0	0	0	0	0	0	0	1	12437	796	28	3		3	PRAMEF4	1	12943051	Silent	SNP	C	TCGA-DU-7306-01A-11D-2086-08	871468	12943051	236307570	3	4456											
NBPF1	55672	broad.mit.edu	37	chr1	16893743	16893743	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacttctgtagggctggcAtgagtcagtcagttcaagat	9	11	13	8	0	4	2	3	1	1	1	4	2	4	2	0	3	0	5	0	3	2	3			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:16893743A>G	uc009vos.1	-	24	3658	c.2770T>C	c.(2770-2772)Tgc>Cgc	p.C924R	NBPF1_uc009vot.1_Missense_Mutation_p.C382R|NBPF1_uc001ayz.1_Missense_Mutation_p.C382R|NBPF1_uc010oce.1_Missense_Mutation_p.C653R	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	924	NBPF 5.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TAGGGCTGGCATGAGTCAGTC	0.478													64	1066					0	0	1	0	0	G	16893743	A	G	16893743	3	3	101	1	0	0	0	0	1	0	0	0	10192	217	8	3	674	3	NBPF1	1	16893743	Missense_Mutation	SNP	A	TCGA-DU-7306-01A-11D-2086-08	3950692	16893743	232356878	4	4457											
AHDC1	27245	broad.mit.edu	37	chr1	27875353	27875355	+	In_Frame_Del	DEL	AGG	AGG	-																															gttctcgggcgagggctggaAggaggaggaggaggaggagg																										TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:27875353_27875355delAGG	uc021ojw.1	-	0	3272_3274	c.3272_3274delCCT	c.(3271-3276)tccttc>ttc	p.S1091del	AHDC1_uc009vsy.3_In_Frame_Del_p.S1091del|AHDC1_uc009vsz.1_In_Frame_Del_p.S1091del	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	1091							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GAGGGCTGGAaggaggaggagga	0.665													7	49	---	---	---	---						-	27875355	AGG	-	27875353	7	5	101	1	0	1	0	1	0	0	0	0	412	72	3	0	1541	0	AHDC1	1	27875353	In_Frame_Del	DEL	AGG	TCGA-DU-7306-01A-11D-2086-08	10981610	27875353	221375268	5	4458											
USP24	23358	broad.mit.edu	37	chr1	55590210	55590210	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctttaattggctggctaCtcccaacaagatcaagccgt	10	13	7	11	1	2	1	1	0	1	1	3	1	3	1	2	2	3	2	2	2	5	5			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:55590210C>A	uc021onw.1	-	34	4305	c.4052G>T	c.(4051-4053)aGt>aTt	p.S1351I	USP24_uc001cyg.4_Missense_Mutation_p.S1185I	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN	Homo sapiens ubiquitin specific peptidase 24 (USP24), mRNA.	1351					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TGGCTGGCTACTCCCAACAAG	0.433													3	37					1	1	1	1	0	A	55590210	C	A	55590210	3	1	101	1	0	0	0	0	1	0	0	0	17052	565	20	5	3946	5	USP24	1	55590210	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	27714857	55590210	193660411	6	4459											
JAK1	3716	broad.mit.edu	37	chr1	65323387	65323387	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaggatgttgtcaaagtcGgtgcagctccacctcagcac	10	9	11	11	1	2	1	2	1	0	0	4	2	3	2	2	2	3	4	2	2	1	1			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:65323387G>A	uc001dbu.1	-	9	1659	c.1410C>T	c.(1408-1410)acC>acT	p.T470T	JAK1_uc009wam.1_Silent_p.T470T	NM_002227	NP_002218	P23458	JAK1_HUMAN	Homo sapiens Janus kinase 1 (JAK1), mRNA.	470	SH2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TGTCAAAGTCGGTGCAGCTCC	0.527			Mis		ALL								3	69					0	0	1	0	0	A	65323387	G	A	65323387	2	1	101	1	0	0	0	0	0	0	0	1	7937	1103	39	2		2	JAK1	1	65323387	Silent	SNP	G	TCGA-DU-7306-01A-11D-2086-08	9733177	65323387	183927234	7	4460											
LRRC8D	55144	broad.mit.edu	37	chr1	90401127	90401127	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgttgtggaagatcacCtttttgataccctgccactc	7	14	9	11	0	1	2	1	1	0	1	2	3	1	3	3	2	2	2	3	2	2	5			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:90401127C>G	uc021opq.1	+	0	2500	c.2500C>G	c.(2500-2502)Ctt>Gtt	p.L834V	LRRC8D_uc001dnm.3_Missense_Mutation_p.L834V|LRRC8D_uc001dnn.3_Missense_Mutation_p.L834V	NM_018103	NP_060573	Q7L1W4	LRC8D_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member D (LRRC8D), transcript variant 2, mRNA.	834						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GGAAGATCACCTTTTTGATAC	0.478													51	65					0	0	1	0	0	G	90401127	C	G	90401127	3	3	101	1	0	0	0	0	1	0	0	0	9024	681	24	5	2502	5	LRRC8D	1	90401127	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	25077740	90401127	158849494	8	4461											
LPPR4	9890	broad.mit.edu	37	chr1	99753520	99753520	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctttgtccttcattcttaGttgcctatattggcatcatc	6	20	5	10	0	4	0	2	0	2	0	6	0	5	0	2	1	1	2	2	1	3	9			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:99753520G>C	uc001dse.3	+	2	381	c.223_splice	c.e2-1	p.L75_splice	LPPR4_uc010oue.2_Splice_Site_p.L75_splice	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 4 (LPPR4), transcript variant 1, mRNA.	75							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TTCATTCTTAGTTGCCTATAT	0.433													5	111					0	0	1	0	0	C	99753520	G	C	99753520	5	2	101	1	0	0	0	0	0	0	1	0	8927	1043	36	5	228	5	LPPR4	1	99753520	Splice_Site	SNP	G	TCGA-DU-7306-01A-11D-2086-08	9352393	99753520	149497101	9	4462											
GJA8	2703	broad.mit.edu	37	chr1	147381232	147381232	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggataaggagggtgaaaaaGaagagccgcagtcggagaag	16	4	17	4	2	0	4	0	1	0	3	1	7	0	6	1	4	1	1	1	4	5	1			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:147381232G>C	uc021ovm.1	+	0	1150	c.1150G>C	c.(1150-1152)Gaa>Caa	p.E384Q	GJA8_uc001epu.2_Missense_Mutation_p.E384Q	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	384					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GGGTGAAAAAGAAGAGCCGCA	0.582													7	6					0	0	1	0	0	C	147381232	G	C	147381232	3	2	101	1	0	0	0	0	1	0	0	0	6405	943	33	5	1152	5	GJA8	1	147381232	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08	47627712	147381232	101869389	10	4463											
DENND4B	9909	broad.mit.edu	37	chr1	153907309	153907309	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgttgccg	0	15	14	12	1	0	0	0	0	0	0	0	0	0	0	1	0	11	12	1	0	0	2			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:153907309C>T	uc001fdd.1	-	17	3101	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q		NM_014856	NP_055671	O75064	DEN4B_HUMAN	Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA.	900	Gln-rich.							p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642													4	81					0	0	1	0	0	T	153907309	C	T	153907309	2	4	101	1	0	0	0	0	0	0	0	1	4434	796	28	3		3	DENND4B	1	153907309	Silent	SNP	C	TCGA-DU-7306-01A-11D-2086-08	6526077	153907309	95343312	11	4464											
LAMC2	3918	broad.mit.edu	37	chr1	183201918	183201918	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagtcagtaccagaaccgaGttcgggatactcacaggctc	12	7	11	11	2	2	1	2	0	0	1	4	4	2	2	2	2	3	3	2	2	4	3			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:183201918G>C	uc001gqa.2	+	13	2460	c.2146G>C	c.(2146-2148)Gtt>Ctt	p.V716L	LAMC2_uc001gpz.4_Missense_Mutation_p.V716L|LAMC2_uc010poa.2_Missense_Mutation_p.V416L	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	716	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CCAGAACCGAGTTCGGGATAC	0.522													52	100					0	0	1	0	0	C	183201918	G	C	183201918	3	2	101	1	0	0	0	0	1	0	0	0	8615	1029	36	5	2200	5	LAMC2	1	183201918	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08	29294609	183201918	66048703	12	4465											
NAV1	89796	broad.mit.edu	37	chr1	201618190	201618190	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggggtccaagggccgtgaaGctccgctgatgtccaagacg	8	7	15	11	3	0	3	0	2	0	1	3	3	3	3	4	3	1	2	4	3	3	0			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:201618190G>C	uc021phi.1	+	0	741	c.394G>C	c.(394-396)Gct>Cct	p.A132P	NAV1_uc001gwu.3_Missense_Mutation_p.A132P	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	132					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GGGCCGTGAAGCTCCGCTGAT	0.647													9	18					0	0	1	0	0	C	201618190	G	C	201618190	3	2	101	1	0	0	0	0	1	0	0	0	10183	971	34	5	396	5	NAV1	1	201618190	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08	18416272	201618190	47632431	13	4466											
C1orf101	257044	broad.mit.edu	37	chr1	244773582	244773582	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagacatggaagtcaatgaTtgaacttaacaagcacctcc	16	8	7	10	0	1	3	1	2	0	1	2	4	2	4	2	1	3	1	2	1	5	2			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:244773582T>C	uc001iam.3	+	18	2503	c.2444T>C	c.(2443-2445)aTt>aCt	p.I815T	C1orf101_uc001iak.1_Missense_Mutation_p.I369T|C1orf101_uc001ial.3_Missense_Mutation_p.I815T|C1orf101_uc010pym.2_Missense_Mutation_p.I664T|C1orf101_uc010pyn.2_Missense_Mutation_p.I748T	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	Homo sapiens chromosome 1 open reading frame 101 (C1orf101), transcript variant 1, mRNA.	815						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			AAGTCAATGATTGAACTTAAC	0.388													35	47					0	0	1	0	0	C	244773582	T	C	244773582	3	2	101	1	0	0	0	0	1	0	0	0	1976	1493	52	3	2518	3	C1orf101	1	244773582	Missense_Mutation	SNP	T	TCGA-DU-7306-01A-11D-2086-08	43155392	244773582	4477039	14	4467											
NLRP3	114548	broad.mit.edu	37	chr1	247608070	247608070	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacctgggcgacctgggggtCatgatgttctgtgaagtgct	6	11	16	8	1	2	2	1	2	1	0	2	4	2	2	2	3	1	2	2	3	1	1			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:247608070C>G	uc001icr.3	+	9	3096	c.2958C>G	c.(2956-2958)gtC>gtG	p.V986V	NLRP3_uc001ics.3_Silent_p.V929V|NLRP3_uc001icu.3_Silent_p.V986V|NLRP3_uc001icw.3_Silent_p.V929V|NLRP3_uc001icv.3_Silent_p.V872V|NLRP3_uc010pyw.2_Silent_p.V964V	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	986					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACCTGGGGGTCATGATGTTCT	0.577													4	52					0	0	1	0	0	G	247608070	C	G	247608070	2	3	101	1	0	0	0	0	0	0	0	1	10478	813	29	5		5	NLRP3	1	247608070	Silent	SNP	C	TCGA-DU-7306-01A-11D-2086-08	2834488	247608070	1642551	15	4468											
TRIM58	25893	broad.mit.edu	37	chr1	248028031	248028031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtggaaatgcagaggcagCgcttcagattggagtttgag	12	9	15	5	1	1	3	1	1	0	2	1	5	1	5	0	3	2	4	0	3	2	3			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:248028031C>T	uc001ido.3	+	2	589	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	181						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	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)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCAGAGGCAGCGCTTCAGATT	0.592													15	33					0	0	1	0	0	T	248028031	C	T	248028031	3	4	101	1	0	0	0	0	1	0	0	0	16528	768	27	1	551	1	TRIM58	1	248028031	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	419961	248028031	1222590	16	4469											
EPT1	85465	broad.mit.edu	37	chr2	26587719	26587719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtatttcctacttggctggCgcccaatctgataacttttt	7	16	8	10	1	1	1	0	1	1	0	2	1	2	1	2	3	2	2	2	3	4	7			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:26587719C>T	uc021veu.1	+	2	293	c.146C>T	c.(145-147)gCg>gTg	p.A49V	EPT1_uc010eyl.1_Non-coding_Transcript	NM_033505		Q9C0D9	EPT1_HUMAN	Homo sapiens ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific) (EPT1), mRNA.	49					phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding										ACTTGGCTGGCGCCCAATCTG	0.348													4	71					0	0	1	0	0	T	26587719	C	T	26587719	3	4	101	1	0	0	0	0	1	0	0	0	5199	768	27	1	156	1	EPT1	2	26587719	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08		26587719	216611654	17	4470											
IL1R1	3554	broad.mit.edu	37	chr2	102785082	102785082	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaaacccacaaggcctgTgattgtgagcccagctaatg	14	7	9	11	0	0	2	0	2	0	0	0	2	0	2	3	1	4	1	3	1	4	2			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:102785082T>C	uc002tbq.3	+	6	998	c.680T>C	c.(679-681)gTg>gCg	p.V227A	IL1R1_uc010fix.3_Missense_Mutation_p.V227A|IL1R1_uc002tbr.3_Missense_Mutation_p.V227A	NM_000877	NP_000868	P14778	IL1R1_HUMAN	Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	227	Ig-like C2-type 3.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	ACAAGGCCTGTGATTGTGAGC	0.398													12	138					0	0	1	0	0	C	102785082	T	C	102785082	3	2	101	1	0	0	0	0	1	0	0	0	7658	1696	59	3	698	3	IL1R1	2	102785082	Missense_Mutation	SNP	T	TCGA-DU-7306-01A-11D-2086-08	76197363	102785082	140414291	18	4471											
FAM123C	205147	broad.mit.edu	37	chr2	131520232	131520232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgtcagaccctggggggcGgcgaagcaaagccttcctcc	7	5	13	16	3	1	1	1	0	0	1	3	2	3	1	5	4	2	1	5	4	2	1	rs146781752		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:131520232G>A	uc021voy.1	+	0	587	c.587G>A	c.(586-588)cGg>cAg	p.R196Q	FAM123C_uc002trw.2_Missense_Mutation_p.R196Q|FAM123C_uc010fmv.2_Missense_Mutation_p.R196Q|FAM123C_uc010fms.1_Missense_Mutation_p.R196Q|FAM123C_uc010fmt.1_Missense_Mutation_p.R196Q|FAM123C_uc010fmu.1_Missense_Mutation_p.R196Q	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	196										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CCTGGGGGGCGGCGAAGCAAA	0.667													3	46					0	0	1	0	0	A	131520232	G	A	131520232	3	1	101	1	0	0	0	0	1	0	0	0	5424	1116	39	2	589	2	FAM123C	2	131520232	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08	28735150	131520232	111679141	19	4472											
CXCR4	7852	broad.mit.edu	37	chr2	136872470	136872470	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacttgaagactcagacTcagtggaaacagatgaatgt	17	8	10	6	0	2	5	2	2	0	3	2	7	2	6	0	1	2	0	0	1	5	1			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:136872470T>C	uc002tuz.3	-	1	1123	c.1028A>G	c.(1027-1029)gAg>gGg	p.E343G	CXCR4_uc002tuy.3_Missense_Mutation_p.E347G|CXCR4_uc010fnk.3_Missense_Mutation_p.E328G	NM_003467	NP_003458	P61073	CXCR4_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 4 (CXCR4), transcript variant 2, mRNA.	343					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	C-X-C chemokine receptor activity|actin binding|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	AGACTCAGACTCAGTGGAAAC	0.403													8	9					0	0	1	0	0	C	136872470	T	C	136872470	3	2	101	1	0	0	0	0	1	0	0	0	4093	1551	54	4	34	4	CXCR4	2	136872470	Missense_Mutation	SNP	T	TCGA-DU-7306-01A-11D-2086-08	5352238	136872470	106326903	20	4473											
ITGB6	3694	broad.mit.edu	37	chr2	160982991	160982991	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccacaaacacagtccccGcgcccgctgcagagcactcc	9	5	8	19	3	0	1	0	0	0	1	2	1	2	1	5	0	4	3	5	0	1	1			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:160982991G>A	uc002ubh.2	-	10	1797	c.1782C>T	c.(1780-1782)cgC>cgT	p.R594R	ITGB6_uc010fou.2_Silent_p.R594R|ITGB6_uc010zcq.1_Silent_p.R552R|ITGB6_uc010fov.1_Silent_p.R594R	NM_000888	NP_000879	P18564	ITB6_HUMAN	Homo sapiens integrin, beta 6 (ITGB6), mRNA.	594	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						CACAGTCCCCGCGCCCGCTGC	0.577													6	99					0	0	1	0	0	A	160982991	G	A	160982991	2	1	101	1	0	0	0	0	0	0	0	1	7899	1074	38	1		1	ITGB6	2	160982991	Silent	SNP	G	TCGA-DU-7306-01A-11D-2086-08	24110521	160982991	82216382	21	4474											
TTN	7273	broad.mit.edu	37	chr2	179495026	179495026	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggaaatccaccccaccCgtctggtccaggcgacagtt	8	8	10	15	2	1	0	0	0	1	0	3	2	3	1	5	3	0	2	5	3	1	2			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:179495026C>T	uc021vsy.1	-	187	36744	c.36519G>A	c.(36517-36519)acG>acA	p.T12173T	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.T5868T|TTN_uc021vta.1_Silent_p.T5801T|TTN_uc021vtb.1_Silent_p.T5676T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13100	Ig-like 81.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACCCCACCCGTCTGGTCCA	0.398													33	47					0	0	1	0	0	T	179495026	C	T	179495026	2	4	101	1	0	0	0	0	0	0	0	1	16732	639	23	2		2	TTN	2	179495026	Silent	SNP	C	TCGA-DU-7306-01A-11D-2086-08	18512035	179495026	63704347	22	4475											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								31	61					0	0	1	0	0	T	209113112	C	T	209113112	3	4	101	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	29618086	209113112	34086261	23	4476											
UGT1A1	54658	broad.mit.edu	37	chr2	234622136	234622136	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggctaagtacctgtcgAttcctgctgtgtttttcttg	4	18	10	9	1	1	0	0	0	1	0	3	1	2	0	2	1	3	5	2	1	2	6			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:234622136A>T	uc002vuw.3	+	0	499	c.499A>T	c.(499-501)Att>Ttt	p.I167F	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Missense_Mutation_p.I167F	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	166					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GTACCTGTCGATTCCTGCTGT	0.478													8	226					0	0	1	0	0	T	234622136	A	T	234622136	3	4	101	1	0	0	0	0	1	0	0	0	16941	333	12	5		5	UGT1A1	2	234622136	Missense_Mutation	SNP	A	TCGA-DU-7306-01A-11D-2086-08	25509024	234622136	8577237	24	4477											
CNTN4	152330	broad.mit.edu	37	chr3	3078909	3078909	+	Frame_Shift_Del	DEL	T	T	-																															ttcacagcgaccgtggtgggTttgaacccttgggttgaata																										TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr3:3078909delT	uc003bpc.3	+	17	2328	c.1989delT	c.(1987-1989)ggtfs	p.G663fs	CNTN4_uc003bpb.1_Frame_Shift_Del_p.G334fs|CNTN4_uc021wsg.1_Frame_Shift_Del_p.G663fs|CNTN4_uc003bpd.1_Frame_Shift_Del_p.G663fs|CNTN4_uc003bpe.3_Frame_Shift_Del_p.G335fs|CNTN4_uc003bpf.3_Frame_Shift_Del_p.G334fs|CNTN4_uc003bpg.3_5'Flank	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	663	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CCGTGGTGGGTTTGAACCCTT	0.502													12	319	---	---	---	---						-	3078909	T	-	3078909	7	5	101	1	0	1	0	1	0	0	0	0	3643	1712	60	0	2047	0	CNTN4	3	3078909	Frame_Shift_Del	DEL	T	TCGA-DU-7306-01A-11D-2086-08		3078909	194943521	25	4478			1	7		2	2	23	N	T_G	5.969444e-05
CNTN4	152330	broad.mit.edu	37	chr3	3078931	3078931	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaacccttgggttgaatatGaattccgcacagttgcagcc	10	11	10	10	1	0	3	0	3	0	0	1	3	1	3	3	1	3	4	3	1	4	5			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr3:3078931G>C	uc003bpc.3	+	17	2350	c.2011G>C	c.(2011-2013)Gaa>Caa	p.E671Q	CNTN4_uc003bpb.1_Missense_Mutation_p.E342Q|CNTN4_uc021wsg.1_Missense_Mutation_p.E671Q|CNTN4_uc003bpd.1_Missense_Mutation_p.E671Q|CNTN4_uc003bpe.3_Missense_Mutation_p.E343Q|CNTN4_uc003bpf.3_Missense_Mutation_p.E342Q|CNTN4_uc003bpg.3_5'Flank	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	671	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.E343Q(1)|p.E671Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GGTTGAATATGAATTCCGCAC	0.522													9	286					0	0	1	0	0	C	3078931	G	C	3078931	3	2	101	1	0	0	0	0	1	0	0	0	3643	1291	45	5	2069	5	CNTN4	3	3078931	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08	22	3078931	194943499	26	4479			1	7		2	2	23	N	T_G	5.969444e-05
RAD54L2	23132	broad.mit.edu	37	chr3	51663382	51663382	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaggatcaattggagcctgTtaccaaagcagcacagcaag	14	6	12	9	0	1	0	1	0	0	0	1	3	1	3	2	3	5	4	2	3	4	2			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr3:51663382T>C	uc011bdt.2	+	3	499	c.374T>C	c.(373-375)gTt>gCt	p.V125A	RAD54L2_uc003dbh.3_5'UTR|RAD54L2_uc011bdu.2_5'UTR|RAD54L2_uc003dbj.3_5'Flank	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	125						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TTGGAGCCTGTTACCAAAGCA	0.463													5	7					0	0	1	0	0	C	51663382	T	C	51663382	3	2	101	1	0	0	0	0	1	0	0	0	12994	1725	60	3	384	3	RAD54L2	3	51663382	Missense_Mutation	SNP	T	TCGA-DU-7306-01A-11D-2086-08	48584451	51663382	146359048	27	4480											
ABHD10	55347	broad.mit.edu	37	chr3	111705808	111705808	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttatgcttcatgctgcAattgcacgaccagagaaggt	10	11	11	9	1	1	1	1	0	0	1	1	3	1	1	1	2	4	5	1	2	3	3			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr3:111705808A>C	uc003dyk.4	+	3	567	c.486A>C	c.(484-486)gcA>gcC	p.A162A	ABHD10_uc011bhq.2_Silent_p.A5A	NM_018394	NP_060864	Q9NUJ1	ABHDA_HUMAN	Homo sapiens abhydrolase domain containing 10 (ABHD10), mRNA.	162						mitochondrion	serine-type peptidase activity			large_intestine(2)|lung(7)|skin(1)	10						TTCATGCTGCAATTGCACGAC	0.383													34	61					0	0	1	0	0	C	111705808	A	C	111705808	2	2	101	1	0	0	0	0	0	0	0	1	74	117	5	5		5	ABHD10	3	111705808	Silent	SNP	A	TCGA-DU-7306-01A-11D-2086-08	60042426	111705808	86316622	28	4481											
ZDHHC23	254887	broad.mit.edu	37	chr3	113677375	113677375	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggctcctctgcgggctcatCgtggacacaggccagtacaa	8	7	12	14	3	2	0	1	0	1	0	4	1	3	1	2	4	2	3	2	4	2	1			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr3:113677375C>T	uc003eau.3	+	4	1505	c.1206C>T	c.(1204-1206)atC>atT	p.I402I	ZDHHC23_uc003eav.3_Silent_p.I396I|ZDHHC23_uc003eaw.1_Silent_p.I96I	NM_173570	NP_775841	Q8IYP9	ZDH23_HUMAN	Homo sapiens zinc finger, DHHC-type containing 23 (ZDHHC23), mRNA.	402						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						GCGGGCTCATCGTGGACACAG	0.602													17	34					0	0	1	0	0	T	113677375	C	T	113677375	2	4	101	1	0	0	0	0	0	0	0	1	17611	874	31	2		2	ZDHHC23	3	113677375	Silent	SNP	C	TCGA-DU-7306-01A-11D-2086-08	1971567	113677375	84345055	29	4482											
GOLGB1	2804	broad.mit.edu	37	chr3	121409831	121409831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggagttcattgaaaaggCggtttcagaaagaagagcat	15	9	13	4	1	2	4	2	1	0	3	2	5	2	5	0	3	1	3	0	3	4	3			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr3:121409831C>T	uc010hrc.3	-	13	8506	c.8380G>A	c.(8380-8382)Gcc>Acc	p.A2794T	GOLGB1_uc003eei.4_Missense_Mutation_p.A2789T|GOLGB1_uc003eej.4_Missense_Mutation_p.A2755T|GOLGB1_uc021xcy.1_Missense_Mutation_p.A2714T	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	2789					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.A2789T(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ATTGAAAAGGCGGTTTCAGAA	0.423													26	37					0	0	1	0	0	T	121409831	C	T	121409831	3	4	101	1	0	0	0	0	1	0	0	0	6565	768	27	1	1450	1	GOLGB1	3	121409831	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	7732456	121409831	76612599	30	4483											
AFM	173	broad.mit.edu	37	chr4	74361141	74361141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaccctccaggttgttacCgttacgcggtaggttccatt	9	12	9	11	3	0	0	0	0	0	0	2	0	2	0	4	3	3	5	4	3	5	6			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr4:74361141C>T	uc003hhb.3	+	8	1214	c.1183C>T	c.(1183-1185)Cgt>Tgt	p.R395C		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	395	Albumin 2.		R -> H (in dbSNP:rs41265665).		vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGGTTGTTACCGTTACGCGGT	0.388													4	67					0	0	1	0	0	T	74361141	C	T	74361141	3	4	101	1	0	0	0	0	1	0	0	0	361	652	23	2	1217	2	AFM	4	74361141	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08		74361141	116793135	31	4484											
TIGD2	166815	broad.mit.edu	37	chr4	90035215	90035215	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaagaacttgacagtgttgGatgcaatttatgaagtgtca	13	12	12	4	0	1	3	1	2	0	1	1	5	1	5	0	2	2	2	0	2	5	4			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr4:90035215G>T	uc003hsk.3	+	0	1248	c.1090G>T	c.(1090-1092)Gat>Tat	p.D364Y	FAM13A_uc003hsh.1_5'Flank	NM_145715	NP_663761	Q4W5G0	TIGD2_HUMAN	Homo sapiens tigger transposable element derived 2 (TIGD2), mRNA.	364	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		GACAGTGTTGGATGCAATTTA	0.378													27	43					4.65686e-17	5.02941e-17	1	1	0	T	90035215	G	T	90035215	3	4	101	1	0	0	0	0	1	0	0	0	15893	1174	41	5	1092	5	TIGD2	4	90035215	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08	15674074	90035215	101119061	32	4485											
SEC24B	10427	broad.mit.edu	37	chr4	110445986	110445986	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgacttaggtggtacaacatCttggccctgcaactgatttt	9	14	9	9	0	1	2	0	2	1	0	1	2	1	2	1	3	4	2	1	3	4	5			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr4:110445986C>G	uc003hzk.3	+	14	2576	c.2521C>G	c.(2521-2523)Ctt>Gtt	p.L841V	SEC24B_uc003hzl.3_Missense_Mutation_p.L806V|SEC24B_uc011cfp.2_Missense_Mutation_p.L871V|SEC24B_uc011cfq.2_Missense_Mutation_p.L840V|SEC24B_uc011cfr.2_Missense_Mutation_p.L805V	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	841					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		GGTACAACATCTTGGCCCTGC	0.363													5	97					0	0	1	0	0	G	110445986	C	G	110445986	3	3	101	1	0	0	0	0	1	0	0	0	13995	913	32	5	2579	5	SEC24B	4	110445986	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	20410771	110445986	80708290	33	4486											
FHDC1	85462	broad.mit.edu	37	chr4	153896041	153896041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccagcccctcctaccggcCcccgaacacccgccgctccc	5	4	6	26	4	0	0	0	0	0	0	3	1	3	0	10	1	3	1	10	1	2	1			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr4:153896041C>T	uc003inf.2	+	10	1673	c.1598C>T	c.(1597-1599)cCc>cTc	p.P533L		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	533					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					TCCTACCGGCCCCCGAACACC	0.667													9	16					0	0	1	0	0	T	153896041	C	T	153896041	3	4	101	1	0	0	0	0	1	0	0	0	5876	623	22	3	1640	3	FHDC1	4	153896041	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	43450055	153896041	37258235	34	4487											
FTMT	94033	broad.mit.edu	37	chr5	121187709	121187709	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatcagcccttcgctggcGtctctgcgcccggtgcgctg	3	9	12	17	5	2	0	1	0	1	0	4	0	2	0	2	2	3	2	2	2	0	1			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr5:121187709G>A	uc003kss.3	+	0	60	c.51G>A	c.(49-51)gcG>gcA	p.A17A		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	17					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	p.A17V(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CTTCGCTGGCGTCTCTGCGCC	0.726													3	45					0	0	1	0	0	A	121187709	G	A	121187709	2	1	101	1	0	0	0	0	0	0	0	1	6085	1132	40	1		1	FTMT	5	121187709	Silent	SNP	G	TCGA-DU-7306-01A-11D-2086-08		121187709	59727551	35	4488											
RNF14	9604	broad.mit.edu	37	chr5	141353304	141353304	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatttcaagatatttgtgAgcggttagttaataatttct	13	17	8	3	1	2	3	1	1	1	2	2	3	2	3	0	1	1	2	0	1	6	7			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr5:141353304A>G	uc003llz.3	+	2	399	c.151A>G	c.(151-153)Agc>Ggc	p.S51G	RNF14_uc003lly.3_Missense_Mutation_p.S51G|RNF14_uc003lma.3_Missense_Mutation_p.S51G|RNF14_uc003lmb.3_5'UTR|RNF14_uc003lmc.3_Missense_Mutation_p.S51G|RNF14_uc011dbg.2_Missense_Mutation_p.S51G|RNF14_uc011dbh.2_Missense_Mutation_p.S51G|RNF14_uc003lmd.3_Missense_Mutation_p.S51G	NM_001201365	NP_001188294	Q9UBS8	RNF14_HUMAN	Homo sapiens ring finger protein 14 (RNF14), transcript variant 6, mRNA.	51	RWD.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GATATTTGTGAGCGGTTAGTT	0.308													4	66					0	0	1	0	0	G	141353304	A	G	141353304	3	3	101	1	0	0	0	0	1	0	0	0	13443	304	11	4	153	4	RNF14	5	141353304	Missense_Mutation	SNP	A	TCGA-DU-7306-01A-11D-2086-08	20165595	141353304	39561956	36	4489											
ABCF1	23	broad.mit.edu	37	chr6	30558337	30558337	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atcgttgtcagccatgatgcCcgactcatcacagaaaccaa	13	8	7	13	2	3	2	3	1	0	1	4	3	3	2	3	0	3	1	3	0	2	1			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr6:30558337C>G	uc003nql.3	+	24	2492	c.2397C>G	c.(2395-2397)gcC>gcG	p.A799A	ABCF1_uc003nqm.3_Silent_p.A761A	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 1 (ABCF1), transcript variant 1, mRNA.	799	ABC transporter 2.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						GCCATGATGCCCGACTCATCA	0.488													14	492					0	0	1	0	0	G	30558337	C	G	30558337	2	3	101	1	0	0	0	0	0	0	0	1	65	610	22	5		5	ABCF1	6	30558337	Silent	SNP	C	TCGA-DU-7306-01A-11D-2086-08		30558337	140556730	37	4490											
FAM83B	222584	broad.mit.edu	37	chr6	54806708	54806708	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggtctagtccattgcttaAttacaacactggtgtttatc	10	15	7	9	0	1	0	0	0	1	0	3	0	2	0	1	2	3	2	1	2	5	6			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr6:54806708A>G	uc003pck.3	+	4	3055	c.2939A>G	c.(2938-2940)aAt>aGt	p.N980S		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	980										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CCATTGCTTAATTACAACACT	0.368													6	70					0	0	1	0	0	G	54806708	A	G	54806708	3	3	101	1	0	0	0	0	1	0	0	0	5634	101	4	3	2953	3	FAM83B	6	54806708	Missense_Mutation	SNP	A	TCGA-DU-7306-01A-11D-2086-08	24248371	54806708	116308359	38	4491											
ANKRD6	22881	broad.mit.edu	37	chr6	90312803	90312803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaacacggagatcatcgCggcgctcatccacgaagggt	10	5	15	11	5	2	1	2	0	0	1	4	4	3	2	1	5	1	1	1	5	2	0			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr6:90312803C>T	uc003pni.4	+	3	616	c.275C>T	c.(274-276)gCg>gTg	p.A92V	ANKRD6_uc003pne.4_Missense_Mutation_p.A92V|ANKRD6_uc003pnf.4_Missense_Mutation_p.A92V|ANKRD6_uc011dzy.2_Missense_Mutation_p.A92V|ANKRD6_uc010kcd.3_Missense_Mutation_p.A92V|LYRM2_uc010kce.2_Intron|LYRM2_uc003png.3_Non-coding_Transcript	NM_001242809	NP_001229738	Q9Y2G4	ANKR6_HUMAN	Homo sapiens ankyrin repeat domain 6 (ANKRD6), transcript variant 1, mRNA.	92							protein binding	p.A92T(1)		NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		GAGATCATCGCGGCGCTCATC	0.612													9	14					0	0	1	0	0	T	90312803	C	T	90312803	3	4	101	1	0	0	0	0	1	0	0	0	685	768	27	1	285	1	ANKRD6	6	90312803	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	35506095	90312803	80802264	39	4492											
AIM1	202	broad.mit.edu	37	chr6	107009224	107009224	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttgtcttctagaagcgaaTttatttcagacttcgaaaca	12	16	6	7	2	3	2	1	0	2	2	4	4	3	2	0	0	2	0	0	0	5	8			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr6:107009224T>C	uc003prh.3	+	17	5675	c.4763T>C	c.(4762-4764)aTt>aCt	p.I1588T	AIM1_uc003pri.3_Missense_Mutation_p.I392T	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	1588	Ricin B-type lectin.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TAGAAGCGAATTTATTTCAGA	0.418													5	73					0	0	1	0	0	C	107009224	T	C	107009224	3	2	101	1	0	0	0	0	1	0	0	0	430	1493	52	3	4833	3	AIM1	6	107009224	Missense_Mutation	SNP	T	TCGA-DU-7306-01A-11D-2086-08	16696421	107009224	64105843	40	4493											
TRDN	10345	broad.mit.edu	37	chr6	123687319	123687319	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accaatctcctctttggctcGttcagtttctgcaagttcag	7	15	7	12	1	5	0	2	0	3	0	7	0	5	0	2	1	1	5	2	1	2	4			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr6:123687319G>A	uc003pzj.2	-	19	1600	c.1282C>T	c.(1282-1284)Cga>Tga	p.R428*	TRDN_uc003pzk.2_Nonsense_Mutation_p.R429*|TRDN_uc010kem.2_5'UTR	NM_006073	NP_006064	Q13061	TRDN_HUMAN	Homo sapiens triadin (TRDN), transcript variant 1, mRNA.	428					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	p.R428*(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TCTTTGGCTCGTTCAGTTTCT	0.303													5	22					0	0	1	0	0	A	123687319	G	A	123687319	4	1	101	1	0	0	0	0	0	1	0	0	16465	1153	40	1	995	1	TRDN	6	123687319	Nonsense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08	16678095	123687319	47427748	41	4494											
MYB	4602	broad.mit.edu	37	chr6	135522782	135522782	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctatatgcttttaggtggaAtctccaactgataaatcagg	12	14	8	7	0	3	1	1	1	2	0	4	2	3	2	1	3	2	1	1	3	7	5			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr6:135522782A>G	uc003qfh.3	+	13	2155	c.1956A>G	c.(1954-1956)gaA>gaG	p.E652E	MYB_uc003qfp.3_Non-coding_Transcript|MYB_uc003qfn.3_Non-coding_Transcript|MYB_uc003qfk.3_Non-coding_Transcript|MYB_uc003qfc.3_Silent_p.E531E|MYB_uc003qfr.3_Non-coding_Transcript|MYB_uc003qft.3_Non-coding_Transcript|MYB_uc003qfs.3_Silent_p.E157E|MYB_uc003qfw.3_Silent_p.E343E|MYB_uc010kgi.3_Intron|MYB_uc003qfq.3_Silent_p.E649E|MYB_uc010kgj.3_Silent_p.E496E|MYB_uc003qfo.3_Silent_p.E446E|MYB_uc003qfu.3_Silent_p.E528E|MYB_uc003qfy.3_Non-coding_Transcript|MYB_uc003qfl.3_Non-coding_Transcript|MYB_uc003qfv.3_Non-coding_Transcript|MYB_uc003qfz.3_Non-coding_Transcript|MYB_uc003qfx.3_Non-coding_Transcript|MYB_uc003qga.3_Non-coding_Transcript|MYB_uc003qgb.3_Non-coding_Transcript|MYB_uc010kgk.3_Non-coding_Transcript|MYB_uc003qfd.3_Non-coding_Transcript|MYB_uc003qfi.3_Silent_p.E636E|MYB_uc003qfe.3_Non-coding_Transcript|MYB_uc003qfg.3_Non-coding_Transcript|MYB_uc003qff.3_Non-coding_Transcript|MYB_uc003qfj.3_Non-coding_Transcript|MYB_uc003qfm.3_Non-coding_Transcript|MYB_uc003qgc.3_Non-coding_Transcript|MYB_uc003qfb.1_Silent_p.E531E	NM_001130173	NP_001123645	P10242	MYB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian) (MYB), transcript variant 1, mRNA.	538					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of T-helper cell differentiation|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TTTAGGTGGAATCTCCAACTG	0.438			T	NFIB	adenoid cystic carcinoma								3	38					0	0	1	0	0	G	135522782	A	G	135522782	2	3	101	1	0	0	0	0	0	0	0	1	10007	98	4	3		3	MYB	6	135522782	Silent	SNP	A	TCGA-DU-7306-01A-11D-2086-08	11835463	135522782	35592285	42	4495											
ASB4	51666	broad.mit.edu	37	chr7	95165776	95165776	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcctgccattcttgtcctAaagcaattgaagttgtagtc	10	13	9	9	0	1	1	0	1	1	0	3	1	2	1	3	1	2	3	3	1	5	6			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr7:95165776A>G	uc011kij.2	+	3	1077	c.1006A>G	c.(1006-1008)Aaa>Gaa	p.K336E		NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 4 (ASB4), transcript variant 1, mRNA.	336					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TTCTTGTCCTAAAGCAATTGA	0.423													24	61					0	0	1	0	0	G	95165776	A	G	95165776	3	3	101	1	0	0	0	0	1	0	0	0	1025	363	13	3	1092	3	ASB4	7	95165776	Missense_Mutation	SNP	A	TCGA-DU-7306-01A-11D-2086-08		95165776	63972887	43	4496											
STAG3	10734	broad.mit.edu	37	chr7	99811425	99811425	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agattctacagagctggataTtgaggtgagtgtccccagag	11	10	13	7	0	1	5	0	2	1	3	2	6	2	6	2	2	2	1	2	2	2	4			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr7:99811425T>C	uc003utx.1	+	32	3820	c.3665T>C	c.(3664-3666)aTt>aCt	p.I1222T	STAG3_uc011kjk.1_Missense_Mutation_p.I1164T|GATS_uc010lgt.3_Intron|GATS_uc003uty.4_Intron|GATS_uc003utz.4_Intron|GATS_uc003uua.4_Intron|STAG3_uc003uub.1_Missense_Mutation_p.I447T|GATS_uc011kjl.2_Intron|GATS_uc010lgu.2_Intron	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	Homo sapiens stromal antigen 3 (STAG3), mRNA.	1222					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGCTGGATATTGAGGTGAGT	0.517													44	149					0	0	1	0	0	C	99811425	T	C	99811425	3	2	101	1	0	0	0	0	1	0	0	0	15243	1493	52	3	3791	3	STAG3	7	99811425	Missense_Mutation	SNP	T	TCGA-DU-7306-01A-11D-2086-08	4645649	99811425	59327238	44	4497											
TMEM168	64418	broad.mit.edu	37	chr7	112424325	112424325	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aataatcagcatagccagagCtacaacaagcaaaatgacac	20	5	6	10	0	1	2	1	1	0	1	1	2	1	2	1	0	6	3	1	0	8	3			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr7:112424325C>A	uc003vgn.3	-	1	948	c.556G>T	c.(556-558)Gct>Tct	p.A186S	TMEM168_uc010lju.3_Missense_Mutation_p.A186S|TMEM168_uc011kmr.2_Intron	NM_022484	NP_071929	Q9H0V1	TM168_HUMAN	Homo sapiens transmembrane protein 168 (TMEM168), mRNA.	186						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						ATAGCCAGAGCTACAACAAGC	0.363													4	108					0.184627	0.186353	1	1	0	A	112424325	C	A	112424325	3	1	101	1	0	0	0	0	1	0	0	0	16080	797	28	5	1553	5	TMEM168	7	112424325	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	12612900	112424325	46714338	45	4498											
CHD7	55636	broad.mit.edu	37	chr8	61654055	61654055	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atattttcagtgaaggtcttGaaggcctcggagaatgtggt	10	13	13	5	1	2	3	1	2	1	1	3	4	2	3	1	4	0	0	1	4	4	4			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr8:61654055G>C	uc003xue.3	+	1	556	c.64G>C	c.(64-66)Gaa>Caa	p.E22Q	CHD7_uc022aux.1_Missense_Mutation_p.E22Q	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	22					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGAAGGTCTTGAAGGCCTCGG	0.478													11	11					0	0	1	0	0	C	61654055	G	C	61654055	3	2	101	1	0	0	0	0	1	0	0	0	3330	1291	45	5	66	5	CHD7	8	61654055	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08		61654055	84709967	46	4499											
CCNE2	9134	broad.mit.edu	37	chr8	95906307	95906307	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcttggggggattccgTctggctgggctggggctgct	1	12	19	9	1	2	0	0	0	2	0	3	1	3	1	1	8	1	5	1	8	0	3			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr8:95906307T>C	uc003yhc.3	-	2	159	c.55A>G	c.(55-57)Acg>Gcg	p.T19A	CCNE2_uc003yhd.2_Missense_Mutation_p.T19A	NM_057749	NP_477097	O96020	CCNE2_HUMAN	Homo sapiens cyclin E2 (CCNE2), mRNA.	19					G1/S transition of mitotic cell cycle|cell cycle checkpoint|cell division|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					GGGGATTCCGTCTGGCTGGGC	0.453													9	173					0	0	1	0	0	C	95906307	T	C	95906307	3	2	101	1	0	0	0	0	1	0	0	0	2921	1667	58	3	1199	3	CCNE2	8	95906307	Missense_Mutation	SNP	T	TCGA-DU-7306-01A-11D-2086-08	34252252	95906307	50457715	47	4500											
WDR67	93594	broad.mit.edu	37	chr8	124117596	124117596	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagttccagtgatcttaaGatgaaagtaacatcagggag	14	10	11	6	0	2	4	1	3	1	1	3	5	3	5	1	1	1	2	1	1	3	3			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr8:124117596G>T	uc003ypp.2	+	7	1191	c.1101G>T	c.(1099-1101)aaG>aaT	p.K367N	WDR67_uc011lig.2_Missense_Mutation_p.K367N|WDR67_uc011lih.2_Missense_Mutation_p.K257N|WDR67_uc003ypq.2_Non-coding_Transcript|WDR67_uc003yps.2_Missense_Mutation_p.K80N	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	Homo sapiens WD repeat domain 67 (WDR67), transcript variant 1, mRNA.	367						centrosome	Rab GTPase activator activity	p.L366V(1)		NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GTGATCTTAAGATGAAAGTAA	0.343													10	28					4.68919e-08	4.96502e-08	1	1	0	T	124117596	G	T	124117596	3	4	101	1	0	0	0	0	1	0	0	0	17315	933	33	5	1131	5	WDR67	8	124117596	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08	28211289	124117596	22246426	48	4501											
ATAD2	29028	broad.mit.edu	37	chr8	124359562	124359562	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaactgcagtttctcactaGtggtatagatctgtgggtag	9	13	11	8	0	2	1	1	0	2	1	3	1	2	1	1	2	2	4	1	2	5	5			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr8:124359562G>C	uc003yqh.4	-	15	2090	c.1982C>G	c.(1981-1983)aCt>aGt	p.T661S	ATAD2_uc011lii.2_Missense_Mutation_p.T452S|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Missense_Mutation_p.T661S	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TTTCTCACTAGTGGTATAGAT	0.423													29	95					0	0	1	0	0	C	124359562	G	C	124359562	3	2	101	1	0	0	0	0	1	0	0	0	1071	1029	36	5	2242	5	ATAD2	8	124359562	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08	241966	124359562	22004460	49	4502											
KLHL38	340359	broad.mit.edu	37	chr8	124664240	124664240	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggctctgccattggccGgtctgtttgctgtacagtag	6	12	13	10	1	2	0	0	0	2	0	2	0	2	0	2	3	3	6	2	3	3	4			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr8:124664240G>A	uc003yqs.1	-	0	951	c.927C>T	c.(925-927)acC>acT	p.T309T		NM_001081675	NP_001075144	Q2WGJ6	KLH38_HUMAN	Homo sapiens kelch-like 38 (Drosophila) (KLHL38), mRNA.	309								p.T309N(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GCCATTGGCCGGTCTGTTTGC	0.572													4	107					0	0	1	0	0	A	124664240	G	A	124664240	2	1	101	1	0	0	0	0	0	0	0	1	8390	1103	39	2		2	KLHL38	8	124664240	Silent	SNP	G	TCGA-DU-7306-01A-11D-2086-08	304678	124664240	21699782	50	4503											
KIAA1432	57589	broad.mit.edu	37	chr9	5769212	5769212	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccacttccaatcatcccagCctcttctatcagttctcctt	7	14	3	17	0	5	0	2	0	3	0	8	0	7	0	5	0	1	1	5	0	2	5			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr9:5769212C>A	uc003zjl.4	+	20	3460	c.3269C>A	c.(3268-3270)gCc>gAc	p.A1090D	KIAA1432_uc003zjh.3_Missense_Mutation_p.A1048D|KIAA1432_uc003zji.3_Missense_Mutation_p.A1048D|KIAA1432_uc003zjj.1_Intron	NM_001206557	NP_001193486	Q4ADV7	RIC1_HUMAN	Homo sapiens KIAA1432 (KIAA1432), transcript variant 3, mRNA.	1127						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		ATCATCCCAGCCTCTTCTATC	0.438													29	184					4.74835e-14	5.07745e-14	1	1	0	A	5769212	C	A	5769212	3	1	101	1	0	0	0	0	1	0	0	0	8233	739	26	5	3225	5	KIAA1432	9	5769212	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08		5769212	135444219	51	4504											
ZNF462	58499	broad.mit.edu	37	chr9	109690957	109690957	+	Frame_Shift_Del	DEL	T	T	-																															tgtccgtacacacacggcacTttggagaaactaaaaatcca																										TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr9:109690957delT	uc004bcz.3	+	2	5053	c.4764delT	c.(4762-4764)actfs	p.T1588fs	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Frame_Shift_Del_p.T1436fs|ZNF462_uc004bda.3_Frame_Shift_Del_p.T1436fs	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	1588					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CACACGGCACTTTGGAGAAAC	0.532													46	69	---	---	---	---						-	109690957	T	-	109690957	7	5	101	1	0	1	0	1	0	0	0	0	17923	1596	56	0	4770	0	ZNF462	9	109690957	Frame_Shift_Del	DEL	T	TCGA-DU-7306-01A-11D-2086-08	103921745	109690957	31522474	52	4505											
RXRA	6256	broad.mit.edu	37	chr9	137293638	137293638	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatcaacggcatgggcccGcctttctcggtcatcagctc	6	9	9	17	3	4	0	3	0	1	0	6	0	4	0	3	3	2	2	3	3	1	1			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr9:137293638G>A	uc004cfb.2	+	1	351	c.189G>A	c.(187-189)ccG>ccA	p.P63P	RXRA_uc004cfa.1_Missense_Mutation_p.A114T	NM_002957	NP_002948	P19793	RXRA_HUMAN	Homo sapiens retinoid X receptor, alpha (RXRA), mRNA.	63	Modulating (By similarity).				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GCATGGGCCCGCCTTTCTCGG	0.697													77	113					0	0	1	0	0	A	137293638	G	A	137293638	2	1	101	1	0	0	0	0	0	0	0	1	13763	1074	38	1		1	RXRA	9	137293638	Silent	SNP	G	TCGA-DU-7306-01A-11D-2086-08	27602681	137293638	3919793	53	4506											
CACNA1B	774	broad.mit.edu	37	chr9	140772650	140772650	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcgtccgcaaatacgcgAagcgcatcaccgagtggcca	11	5	11	14	7	1	0	1	0	0	0	3	2	2	0	3	1	2	2	3	1	3	1			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr9:140772650A>G	uc004cog.3	+	0	410	c.265A>G	c.(265-267)Aag>Gag	p.K89E	AK128414_uc004cof.1_Intron|CACNA1B_uc022bqn.1_Missense_Mutation_p.K89E	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	89					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CAAATACGCGAAGCGCATCAC	0.701													4	38					0	0	1	0	0	G	140772650	A	G	140772650	3	3	101	1	0	0	0	0	1	0	0	0	2539	247	9	3	267	3	CACNA1B	9	140772650	Missense_Mutation	SNP	A	TCGA-DU-7306-01A-11D-2086-08	3479012	140772650	440781	54	4507											
ADARB2	105	broad.mit.edu	37	chr10	1405926	1405926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccagcgcgttcttgggcGccaccgaccacgacagcttc	7	6	11	17	5	1	0	0	0	1	0	2	2	1	0	4	1	2	3	4	1	0	3			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr10:1405926G>A	uc009xhq.3	-	2	700	c.374C>T	c.(373-375)gCg>gTg	p.A125V		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	125	DRBM 1.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GTTCTTGGGCGCCACCGACCA	0.692													32	28					0	0	1	0	0	A	1405926	G	A	1405926	3	1	101	1	0	0	0	0	1	0	0	0	283	1087	38	1	1877	1	ADARB2	10	1405926	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08		1405926	134128821	55	4508											
OR4C11	219429	broad.mit.edu	37	chr11	55371099	55371099	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtatatatgaatatacatgGgccaaagaataagatgacta	18	11	8	4	0	0	4	0	2	0	2	0	4	0	4	1	1	1	1	1	1	10	7			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr11:55371099G>T	uc010rii.2	-	0	776	c.751C>A	c.(751-753)Cca>Aca	p.P251T		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						AATATACATGGGCCAAAGAAT	0.438													12	70					1.49906e-05	1.57183e-05	1	1	0	T	55371099	G	T	55371099	3	4	101	1	0	0	0	0	1	0	0	0	11045	1232	43	5	183	5	OR4C11	11	55371099	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08		55371099	79635417	56	4509											
ACTN3	89	broad.mit.edu	37	chr11	66328794	66328794	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcgacagtttgcggcccagGccaatgccattggaccctgg	7	7	14	13	2	0	0	0	0	0	0	0	2	0	1	4	5	2	1	4	5	1	2			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr11:66328794G>C	uc021qma.1	+	5	724	c.211G>C	c.(211-213)Gcc>Ccc	p.A71P	ACTN3_uc021qlz.1_Non-coding_Transcript			Q08043	ACTN3_HUMAN	Homo sapiens actinin, alpha 3 (ACTN3), mRNA.	653	Actin-binding.|CH 1.				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						TGCGGCCCAGGCCAATGCCAT	0.652													9	17					0	0	1	0	0	C	66328794	G	C	66328794	3	2	101	1	0	0	0	0	1	0	0	0	206	1203	42	5	2019	5	ACTN3	11	66328794	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08	10957695	66328794	68677722	57	4510											
LPCAT3	10162	broad.mit.edu	37	chr12	7092611	7092611	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accaaagttaaaataagcaaTtgagaggcctgtaaaggtat	18	9	9	5	0	0	1	0	1	0	1	0	2	0	1	2	2	1	4	2	2	8	5			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr12:7092611T>C	uc001qsi.3	-	1	355	c.241A>G	c.(241-243)Att>Gtt	p.I81V	EMG1_uc010sfv.1_Intron|LPCAT3_uc010sfw.2_Intron|LPCAT3_uc010sfx.1_Non-coding_Transcript|LPCAT3_uc009zfq.1_Intron	NM_005768	NP_005759	Q6P1A2	MBOA5_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 3 (LPCAT3), mRNA.	81					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						AAATAAGCAATTGAGAGGCCT	0.418													103	146					0	0	1	0	0	C	7092611	T	C	7092611	3	2	101	1	0	0	0	0	1	0	0	0	8912	1493	52	3	1266	3	LPCAT3	12	7092611	Missense_Mutation	SNP	T	TCGA-DU-7306-01A-11D-2086-08		7092611	126759284	58	4511											
R3HDM2	22864	broad.mit.edu	37	chr12	57674222	57674222	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttgctgctgctgctgctgCtgttgctgctgggcagtaca	4	13	14	10	0	0	0	0	0	0	0	0	0	0	0	0	1	9	12	0	1	1	3			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr12:57674222C>T	uc009zpm.1	-	11	1256	c.1221G>A	c.(1219-1221)caG>caA	p.Q407Q	R3HDM2_uc010srn.1_Non-coding_Transcript|R3HDM2_uc001snu.2_Silent_p.Q68Q|R3HDM2_uc001snr.2_Silent_p.Q134Q|R3HDM2_uc001sns.2_Silent_p.Q407Q|R3HDM2_uc001snt.2_Silent_p.Q421Q	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.	407	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						gctgctgctgctgttgctgct	0.567													4	68					0	0	1	0	0	T	57674222	C	T	57674222	2	4	101	1	0	0	0	0	0	0	0	1	12888	796	28	3		3	R3HDM2	12	57674222	Silent	SNP	C	TCGA-DU-7306-01A-11D-2086-08	50581611	57674222	76177673	59	4512											
ANAPC7	51434	broad.mit.edu	37	chr12	110824234	110824234	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctgccaagcttcccaataGgtccacgttatctcgcaata	11	11	6	13	2	2	0	0	0	2	0	5	0	4	0	3	1	2	3	3	1	6	4			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr12:110824234G>C	uc001tqo.2	-	5	818	c.817C>G	c.(817-819)Cta>Gta	p.L273V	ANAPC7_uc001tqp.4_Missense_Mutation_p.L273V	NM_016238	NP_057322	Q9UJX3	APC7_HUMAN	Homo sapiens anaphase promoting complex subunit 7 (ANAPC7), transcript variant 1, mRNA.	273					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						CTTCCCAATAGGTCCACGTTA	0.353													113	162					0	0	1	0	0	C	110824234	G	C	110824234	3	2	101	1	0	0	0	0	1	0	0	0	606	991	35	5	1010	5	ANAPC7	12	110824234	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08	53150012	110824234	23027661	60	4513											
AKAP6	9472	broad.mit.edu	37	chr14	33292355	33292355	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaggatgacgactccagtaTtgcaacagatgatgaaattt	14	11	10	6	1	0	5	0	4	0	1	1	7	1	6	1	1	2	2	1	1	3	3	rs74712664		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr14:33292355T>G	uc001wrq.3	+	12	5506	c.5336T>G	c.(5335-5337)aTt>aGt	p.I1779S		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1779					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GACTCCAGTATTGCAACAGAT	0.433													31	52					0	0	1	0	0	G	33292355	T	G	33292355	3	3	101	1	0	0	0	0	1	0	0	0	455	1493	52	5	5382	5	AKAP6	14	33292355	Missense_Mutation	SNP	T	TCGA-DU-7306-01A-11D-2086-08		33292355	74057185	61	4514											
AHNAK2	113146	broad.mit.edu	37	chr14	105421945	105421945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccacctctgtcttcagcGtcacctctgttgcctcctgg	3	13	7	18	1	5	0	2	0	3	0	7	0	7	0	6	1	2	1	6	1	0	2			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr14:105421945G>A	uc010axc.1	-	4	461	c.341C>T	c.(340-342)aCg>aTg	p.T114M	AHNAK2_uc021seo.1_5'Flank|AHNAK2_uc001ypx.2_Missense_Mutation_p.T14M	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	114	PDZ.					nucleus		p.T114M(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGTCTTCAGCGTCACCTCTGT	0.602													4	99					0	0	1	0	0	A	105421945	G	A	105421945	3	1	101	1	0	0	0	0	1	0	0	0	415	1145	40	1	17058	1	AHNAK2	14	105421945	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08	72129590	105421945	1927595	62	4515											
FBN1	2200	broad.mit.edu	37	chr15	48786433	48786433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcctttaattcttgagtacCctttaccacatatgggatct	9	17	5	10	0	2	1	0	1	2	0	3	2	3	2	3	1	2	1	3	1	4	9			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr15:48786433C>T	uc001zwx.2	-	22	3091	c.2696G>A	c.(2695-2697)gGg>gAg	p.G899E		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	899	TB 4.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCTTGAGTACCCTTTACCACA	0.323													20	62					0	0	1	0	0	T	48786433	C	T	48786433	3	4	101	1	0	0	0	0	1	0	0	0	5702	623	22	3	6095	3	FBN1	15	48786433	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08		48786433	53744959	63	4516											
KIAA1609	57707	broad.mit.edu	37	chr16	84516258	84516258	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtagtggtcgttgtagccCgtgtgtgtgtacacagccat	7	13	13	8	2	0	0	0	0	0	0	1	0	0	0	2	1	3	4	2	1	3	4			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr16:84516258C>T	uc002fib.3	-	5	1124	c.1017G>A	c.(1015-1017)acG>acA	p.T339T	KIAA1609_uc010vod.2_Silent_p.T312T	NM_020947	NP_065998	Q6P9B6	K1609_HUMAN	Homo sapiens KIAA1609 (KIAA1609), mRNA.	339	TLD.						protein binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(2)	18						CGTTGTAGCCCGTGTGTGTGT	0.552													26	49					0	0	1	0	0	T	84516258	C	T	84516258	2	4	101	1	0	0	0	0	0	0	0	1	8247	639	23	2		2	KIAA1609	16	84516258	Silent	SNP	C	TCGA-DU-7306-01A-11D-2086-08		84516258	5838495	64	4517											
PAFAH1B1	5048	broad.mit.edu	37	chr17	2576020	2576020	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagtgtctgcctcaagggatAaaactataaaaatgtgggaa	16	10	10	5	0	2	0	1	0	1	0	2	2	2	2	1	2	2	0	1	2	9	4			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr17:2576020A>G	uc002fuw.4	+	6	1208	c.640A>G	c.(640-642)Aaa>Gaa	p.K214E	PAFAH1B1_uc010ckb.2_Non-coding_Transcript|PAFAH1B1_uc010vqz.2_Missense_Mutation_p.K43E	NM_000430	NP_000421	P43034	LIS1_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) (PAFAH1B1), mRNA.	214	Interaction with dynein and dynactin.				G2/M transition of mitotic cell cycle|acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						CTCAAGGGATAAAACTATAAA	0.433													22	40					0	0	1	0	0	G	2576020	A	G	2576020	3	3	101	1	0	0	0	0	1	0	0	0	11384	363	13	3	662	3	PAFAH1B1	17	2576020	Missense_Mutation	SNP	A	TCGA-DU-7306-01A-11D-2086-08		2576020	78619190	65	4518											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr17:7577538C>T	uc002gim.2	-	6	937	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.3_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q|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.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			44	62					0	0	1	0	0	T	7577538	C	T	7577538	3	4	101	1	0	0	0	0	1	0	0	0	16378	652	23	2	547	2	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	5001518	7577538	73617672	66	4519											
DNAJC7	7266	broad.mit.edu	37	chr17	40133943	40133943	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctttttcttgggatcagaGaggatagtaaaggcctctcc	9	13	11	8	0	4	1	1	0	3	1	5	4	4	3	2	3	0	1	2	3	3	5			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr17:40133943G>A	uc002hyo.3	-	11	1595	c.1314C>T	c.(1312-1314)ctC>ctT	p.L438L	DNAJC7_uc010wgb.2_Silent_p.L382L|DNAJC7_uc002hyp.3_Silent_p.L382L|DNAJC7_uc010wgc.2_Silent_p.L296L	NM_003315	NP_001138238	Q99615	DNJC7_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 7 (DNAJC7), transcript variant 1, mRNA.	438	J.				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				TGGGATCAGAGAGGATAGTAA	0.502													31	94					0	0	1	0	0	A	40133943	G	A	40133943	2	1	101	1	0	0	0	0	0	0	0	1	4654	929	33	3		3	DNAJC7	17	40133943	Silent	SNP	G	TCGA-DU-7306-01A-11D-2086-08	32556405	40133943	41061267	67	4520											
TEX14	56155	broad.mit.edu	37	chr17	56700218	56700218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacccttacctgggtgctaCgctcctttcctgctgtcaaa	6	12	7	16	1	1	0	1	0	0	0	3	0	3	0	5	1	4	3	5	1	3	3	rs140312980		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr17:56700218C>T	uc010dcz.2	-	3	525	c.407G>A	c.(406-408)cGt>cAt	p.R136H	TEX14_uc002iwr.2_Missense_Mutation_p.R136H|TEX14_uc002iws.2_Missense_Mutation_p.R136H|TEX14_uc010dda.2_5'UTR	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	136						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGGGTGCTACGCTCCTTTCC	0.567													6	132					0	0	1	0	0	T	56700218	C	T	56700218	3	4	101	1	0	0	0	0	1	0	0	0	15775	536	19	1	4188	1	TEX14	17	56700218	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	16566275	56700218	24494992	68	4521											
CETN1	1068	broad.mit.edu	37	chr18	580857	580857	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatgatcgacgaagctgAtcgggatggggacggcgaag	11	5	19	6	5	0	3	0	2	0	1	2	9	0	5	0	5	1	1	0	5	2	0			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr18:580857A>C	uc002kko.1	+	0	489	c.449A>C	c.(448-450)gAt>gCt	p.D150A		NM_004066	NP_004057	Q12798	CETN1_HUMAN	Homo sapiens centrin, EF-hand protein, 1 (CETN1), mRNA.	150	EF-hand 4.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GACGAAGCTGATCGGGATGGG	0.542													17	81					0	0	1	0	0	C	580857	A	C	580857	3	2	101	1	0	0	0	0	1	0	0	0	3274	333	12	5	451	5	CETN1	18	580857	Missense_Mutation	SNP	A	TCGA-DU-7306-01A-11D-2086-08		580857	77496391	69	4522											
KIAA1328	57536	broad.mit.edu	37	chr18	34414311	34414311	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagaacaatcagtagtataCgttccaggtatgattttcta	14	13	8	6	1	2	2	1	1	1	1	3	3	3	2	1	1	2	4	1	1	8	8			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr18:34414311C>T	uc002kzz.3	+	1	109	c.87C>T	c.(85-87)taC>taT	p.Y29Y	KIAA1328_uc021uiw.1_Silent_p.Y29Y	NM_020776	NP_065827	Q86T90	K1328_HUMAN	Homo sapiens KIAA1328 (KIAA1328), mRNA.	29										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		CAGTAGTATACGTTCCAGGTA	0.338													9	8					0	0	1	0	0	T	34414311	C	T	34414311	2	4	101	1	0	0	0	0	0	0	0	1	8225	547	19	1		1	KIAA1328	18	34414311	Silent	SNP	C	TCGA-DU-7306-01A-11D-2086-08	33833454	34414311	43662937	70	4523											
MEX3C	51320	broad.mit.edu	37	chr18	48703275	48703275	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctccaaaccagaagtttcCtgtgctaaatgggcttgttg	10	13	9	9	0	1	1	0	0	1	1	3	1	2	1	3	1	2	4	3	1	4	4			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr18:48703275C>G	uc002lfc.4	-	1	1787	c.1426G>C	c.(1426-1428)Gga>Cga	p.G476R		NM_016626	NP_057710	Q5U5Q3	MEX3C_HUMAN	Homo sapiens mex-3 homolog C (C. elegans) (MEX3C), mRNA.	476						cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		CAGAAGTTTCCTGTGCTAAAT	0.443													38	93					0	0	1	0	0	G	48703275	C	G	48703275	3	3	101	1	0	0	0	0	1	0	0	0	9511	690	24	5	557	5	MEX3C	18	48703275	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	14288964	48703275	29373973	71	4524											
DAPK3	1613	broad.mit.edu	37	chr19	3964267	3964267	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactccggggtgccgaagatGttcttgaactcgttccccgc	7	10	11	13	4	1	2	0	1	1	1	4	3	3	2	4	2	3	2	4	2	3	3			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:3964267G>C	uc002lzc.1	-	2	622	c.528C>G	c.(526-528)aaC>aaG	p.N176K	DAPK3_uc002lzb.1_5'Flank|DAPK3_uc002lzd.1_Missense_Mutation_p.N176K|DAPK3_uc021umy.1_5'Flank	NM_001348	NP_001339	O43293	DAPK3_HUMAN	Homo sapiens death-associated protein kinase 3 (DAPK3), mRNA.	176	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	PML body|cytoplasm	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCGAAGATGTTCTTGAACT	0.627													15	47					0	0	1	0	0	C	3964267	G	C	3964267	3	2	101	1	0	0	0	0	1	0	0	0	4237	1368	48	5	860	5	DAPK3	19	3964267	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08		3964267	55164716	72	4525											
OR2Z1	284383	broad.mit.edu	37	chr19	8841995	8841995	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagatggcgctgtccacctCaggggtgctgatcctaatgc	7	9	13	12	2	1	2	1	1	0	1	3	3	3	2	3	3	2	2	3	3	1	1			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:8841995C>A	uc010xkg.2	+	0	605	c.605C>A	c.(604-606)tCa>tAa	p.S202*		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTGTCCACCTCAGGGGTGCTG	0.577											OREG0007662	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=OR2Z1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	20	153					5.49717e-05	5.7086e-05	1	1	0	A	8841995	C	A	8841995	4	1	101	1	0	0	0	0	0	1	0	0	11036	838	29	5	607	5	OR2Z1	19	8841995	Nonsense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	4877728	8841995	50286988	73	4526											
ZNF492	57615	broad.mit.edu	37	chr19	22847842	22847842	+	Frame_Shift_Del	DEL	T	T	-																															tatgaagaatgtggcaaagcTtttaaccagtcctcacacct																										TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:22847842delT	uc002nqw.3	+	3	1615	c.1371delT	c.(1369-1371)gctfs	p.A457fs		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	Homo sapiens zinc finger protein 492 (ZNF492), mRNA.	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GTGGCAAAGCTTTTAACCAGT	0.388													106	25	---	---	---	---						-	22847842	T	-	22847842	7	5	101	1	0	1	0	1	0	0	0	0	17940	1596	56	0	1381	0	ZNF492	19	22847842	Frame_Shift_Del	DEL	T	TCGA-DU-7306-01A-11D-2086-08	14005847	22847842	36281141	74	4527											
PHLDB3	653583	broad.mit.edu	37	chr19	43999703	43999703	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaacccccggctctcggCtgccatctgctcccccagtg	4	8	9	20	2	3	0	1	0	2	0	5	0	4	0	5	2	3	4	5	2	1	0			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:43999703C>T	uc002own.4	-	6	1154	c.895G>A	c.(895-897)Gcc>Acc	p.A299T	PHLDB3_uc010eit.3_Missense_Mutation_p.A3T	NM_198850	NP_942147	Q6NSJ2	PHLB3_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 3 (PHLDB3), mRNA.	299										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CGGCTCTCGGCTGCCATCTGC	0.642													10	12					0	0	1	0	0	T	43999703	C	T	43999703	3	4	101	1	0	0	0	0	1	0	0	0	11853	797	28	3	1067	3	PHLDB3	19	43999703	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	21151861	43999703	15129280	75	4528											
RELB	5971	broad.mit.edu	37	chr19	45540972	45540972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccgccagccttgtgggcaGcaacatgttccccaatcatt	9	9	8	15	1	1	0	1	0	0	0	2	0	2	0	5	1	3	3	5	1	2	3			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:45540972G>A	uc021uvq.1	+	11	1795	c.1664G>A	c.(1663-1665)aGc>aAc	p.S555N	RELB_uc021uvp.1_Missense_Mutation_p.S552N|CLASRP_uc002pak.3_5'Flank|CLASRP_uc002pal.3_5'Flank|CLASRP_uc010xxh.2_5'Flank|CLASRP_uc002pam.3_5'Flank|CLASRP_uc002pan.1_5'Flank	NM_006509	NP_006500	Q01201	RELB_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog B (RELB), mRNA.	555						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CTTGTGGGCAGCAACATGTTC	0.701													3	53					0	0	1	0	0	A	45540972	G	A	45540972	3	1	101	1	0	0	0	0	1	0	0	0	13217	971	34	3	1702	3	RELB	19	45540972	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08	1541269	45540972	13588011	76	4529											
CRX	1406	broad.mit.edu	37	chr19	48342788	48342788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctcaggctccccaaccaCggcagtggccactgtgtcca	7	6	9	19	1	1	0	1	0	0	0	3	0	3	0	7	3	1	2	7	3	1	0			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:48342788C>T	uc002phq.4	+	3	668	c.464C>T	c.(463-465)aCg>aTg	p.T155M		NM_000554	NP_000545	O43186	CRX_HUMAN	Homo sapiens cone-rod homeobox (CRX), mRNA.	155					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TCCCCAACCACGGCAGTGGCC	0.667													8	106					0	0	1	0	0	T	48342788	C	T	48342788	3	4	101	1	0	0	0	0	1	0	0	0	3902	536	19	1	474	1	CRX	19	48342788	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	2801816	48342788	10786195	77	4530											
GRWD1	83743	broad.mit.edu	37	chr19	48953672	48953672	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggtggtggaggagcccCaggccctggcagccttcctc	5	7	15	14	0	0	0	0	0	0	0	2	2	1	2	5	6	3	2	5	6	0	1			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:48953672C>G	uc002pjd.2	+	3	804	c.571C>G	c.(571-573)Cag>Gag	p.Q191E		NM_031485	NP_113673	Q9BQ67	GRWD1_HUMAN	Homo sapiens glutamate-rich WD repeat containing 1 (GRWD1), mRNA.	191						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		GGAGGAGCCCCAGGCCCTGGC	0.647													24	73					0	0	1	0	0	G	48953672	C	G	48953672	3	3	101	1	0	0	0	0	1	0	0	0	6811	595	21	5	585	5	GRWD1	19	48953672	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	610884	48953672	10175311	78	4531											
NLRP13	126204	broad.mit.edu	37	chr19	56423195	56423195	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcgtcctccaaaatattaAggtcaacttcaaagatacga	15	11	5	10	2	2	1	2	0	0	1	5	2	4	1	2	1	2	0	2	1	7	5			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:56423195A>T	uc010ygg.2	-	4	2013	c.1988T>A	c.(1987-1989)cTt>cAt	p.L663H		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	663							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CAAAATATTAAGGTCAACTTC	0.403													4	78					0	0	1	0	0	T	56423195	A	T	56423195	3	4	101	1	0	0	0	0	1	0	0	0	10475	72	3	5	1169	5	NLRP13	19	56423195	Missense_Mutation	SNP	A	TCGA-DU-7306-01A-11D-2086-08	7469523	56423195	2705788	79	4532											
ZFP64	55734	broad.mit.edu	37	chr20	50701276	50701276	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccctgacgaaggaggcGccgcaggtctcacagcggaa	10	5	13	13	4	2	1	2	1	1	0	4	4	3	3	2	4	1	1	2	4	2	0			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr20:50701276G>A	uc002xwk.3	-	8	2107	c.1758C>T	c.(1756-1758)ggC>ggT	p.G586G	ZFP64_uc002xwj.3_Silent_p.G367G	NM_199427	NP_955459	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 4, mRNA.	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CGAAGGAGGCGCCGCAGGTCT	0.597													14	36					0	0	1	0	0	A	50701276	G	A	50701276	2	1	101	1	0	0	0	0	0	0	0	1	17649	1074	38	1		1	ZFP64	20	50701276	Silent	SNP	G	TCGA-DU-7306-01A-11D-2086-08		50701276	12324244	80	4533											
CSF2RA	1438	broad.mit.edu	37	chrX	1404769	1404769	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaacacaaccttcagcAagtgtttcttaactgacaag	17	9	6	9	0	2	2	1	1	1	1	2	2	2	2	1	0	4	2	1	0	7	3			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chrX:1404769A>G	uc010nct.2	+	4	497	c.175A>G	c.(175-177)Aag>Gag	p.K59E	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.K59E|CSF2RA_uc004cpq.2_Missense_Mutation_p.K59E|CSF2RA_uc004cpn.2_Missense_Mutation_p.K59E|CSF2RA_uc004cpo.2_Missense_Mutation_p.K59E|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Intron|CSF2RA_uc004cpp.2_Missense_Mutation_p.K59E|CSF2RA_uc010ncv.2_Missense_Mutation_p.K59E|CSF2RA_uc004cpr.2_Missense_Mutation_p.K59E	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	59						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AACCTTCAGCAAGTGTTTCTT	0.473													61	170					0	0	1	0	0	G	1404769	A	G	1404769	3	3	101	1	0	0	0	0	1	0	0	0	3934	131	5	3	181	3	CSF2RA	23	1404769	Missense_Mutation	SNP	A	TCGA-DU-7306-01A-11D-2086-08		1404769	153865791	81	4534											
EIF1AX	1964	broad.mit.edu	37	chrX	20156719	20156719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattctcattcttacccctgCgtctgtttttacctccttta	5	19	3	14	1	3	0	1	0	3	0	5	0	4	0	4	0	3	1	4	0	3	8			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chrX:20156719C>T	uc004czt.3	-	1	246	c.38G>A	c.(37-39)cGc>cAc	p.R13H	SCARNA9L_uc010nfp.3_5'Flank	NM_001412	NP_001403	P47813	IF1AX_HUMAN	Homo sapiens eukaryotic translation initiation factor 1A, X-linked (EIF1AX), mRNA.	13						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CTTACCCCTGCGTCTGTTTTT	0.303													3	65					0	0	1	0	0	T	20156719	C	T	20156719	3	4	101	1	0	0	0	0	1	0	0	0	4992	768	27	1	420	1	EIF1AX	23	20156719	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	18751950	20156719	135113841	82	4535											
CXorf58	254158	broad.mit.edu	37	chrX	23956785	23956785	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaaaatgagaaaagtttatTtggctaaagaaaaaaatact	23	10	6	2	0	0	2	0	1	0	2	0	3	0	2	0	1	1	2	0	1	12	5			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chrX:23956785T>C	uc004daz.1	+	7	1251	c.907T>C	c.(907-909)Ttg>Ctg	p.L303L	CXorf58_uc011mju.1_Silent_p.L303L	NM_152761	NP_689974	Q96LI9	CX058_HUMAN	Homo sapiens chromosome X open reading frame 58 (CXorf58), transcript variant 1, mRNA.	303										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						AAAAGTTTATTTGGCTAAAGA	0.338													56	16					0	0	1	0	0	C	23956785	T	C	23956785	2	2	101	1	0	0	0	0	0	0	0	1	4114	1838	64	3		3	CXorf58	23	23956785	Silent	SNP	T	TCGA-DU-7306-01A-11D-2086-08	3800066	23956785	131313775	83	4536											
ATRX	546	broad.mit.edu	37	chrX	76814303	76814306	+	Frame_Shift_Del	DEL	ATAA	ATAA	-																															atcctgctttagtagaaatgAtaaataatcgtcctctgaaa																										TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chrX:76814303_76814306delATAA	uc004ecp.4	-	28	6570_6573	c.6338_6341delTTAT	c.(6337-6342)tttatcfs	p.F2113fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.F2075fs|ATRX_uc004eco.4_Frame_Shift_Del_p.F1898fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2113	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.F2113fs*9(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AGTAGAAATGATAAATAATCGTCC	0.289			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						32	9	---	---	---	---						-	76814306	ATAA	-	76814303	7	5	101	1	0	1	0	1	0	0	0	0	1208	333	12	0	1165	0	ATRX	23	76814303	Frame_Shift_Del	DEL	ATAA	TCGA-DU-7306-01A-11D-2086-08	52857518	76814303	78456257	84	4537											
DNAJC11	55735	broad.mit.edu	37	chr1	6697392	6697392	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtaccaggcattgacgaTgatgaggcctaaggacagac	12	6	12	11	2	0	4	0	3	0	1	0	6	0	5	3	3	1	2	3	3	2	3			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr1:6697392T>C	uc001aof.2	-	13	1496	c.1390A>G	c.(1390-1392)Atc>Gtc	p.I464V	DNAJC11_uc001aog.2_Missense_Mutation_p.I412V|DNAJC11_uc010nzu.1_Missense_Mutation_p.I374V	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.	464					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		GCATTGACGATGATGAGGCCT	0.572													7	153					0	0	1	0	0	C	6697392	T	C	6697392	3	2	102	1	0	0	0	0	1	0	0	0	4630	1464	51	3	301	3	DNAJC11	1	6697392	Missense_Mutation	SNP	T	TCGA-DU-7309-01A-11D-2086-08		6697392	242553229	1	4538											
OVGP1	5016	broad.mit.edu	37	chr1	111966210	111966210	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtcatgcatggggctgccTcttagtccaggatataagaa	10	10	12	9	1	2	1	1	0	1	1	3	2	3	2	2	4	2	2	2	4	4	3			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr1:111966210T>A	uc001eba.3	-	4	494	c.438A>T	c.(436-438)agA>agT	p.R146S	OVGP1_uc001eaz.3_Missense_Mutation_p.R108S|OVGP1_uc010owb.2_5'UTR|OVGP1_uc010owc.1_Missense_Mutation_p.R136S	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	146					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TGGGGCTGCCTCTTAGTCCAG	0.403													17	49					0	0	1	0	0	A	111966210	T	A	111966210	3	1	102	1	0	0	0	0	1	0	0	0	11325	1548	54	5	1626	5	OVGP1	1	111966210	Missense_Mutation	SNP	T	TCGA-DU-7309-01A-11D-2086-08	105268818	111966210	137284411	2	4539											
PGLYRP4	57115	broad.mit.edu	37	chr1	153315567	153315567	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagctgtgataactgttaccTttcttagtgccaaagaaggc	11	12	9	9	0	1	2	0	1	1	1	1	2	1	2	2	1	4	2	2	1	5	4			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr1:153315567T>C	uc001fbo.3	-	5	537	c.472_splice	c.e5+1	p.G158_splice	PGLYRP4_uc001fbp.3_Splice_Site_p.G154_splice	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	158					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACTGTTACCTTTCTTAGTGC	0.478													19	25					0	0	1	0	0	C	153315567	T	C	153315567	5	2	102	1	0	0	0	0	0	0	1	0	11796	1623	56	4	670	4	PGLYRP4	1	153315567	Splice_Site	SNP	T	TCGA-DU-7309-01A-11D-2086-08	41349357	153315567	95935054	3	4540											
PPP1CB	5500	broad.mit.edu	37	chr2	29016792	29016792	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaccttattttcagccccaAattactgtggcgagtttgat	10	15	7	9	1	1	1	1	1	0	0	1	2	1	1	3	1	3	1	3	1	4	6			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr2:29016792A>T	uc002rmg.3	+	7	968	c.808A>T	c.(808-810)Aat>Tat	p.N270Y	PPP1CB_uc010ymj.2_Missense_Mutation_p.N242Y|PPP1CB_uc010yml.2_Missense_Mutation_p.N242Y|PPP1CB_uc002rmh.3_Missense_Mutation_p.N270Y|SPDYA_uc002rmi.3_5'UTR	NM_206876	NP_996759	P62140	PP1B_HUMAN	Homo sapiens protein phosphatase 1, catalytic subunit, beta isozyme (PPP1CB), transcript variant 3, mRNA.	270					cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|PTW/PP1 phosphatase complex|nucleolus	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					TTCAGCCCCAAATTACTGTGG	0.348													14	39					0	0	1	0	0	T	29016792	A	T	29016792	3	4	102	1	0	0	0	0	1	0	0	0	12350	14	1	5	834	5	PPP1CB	2	29016792	Missense_Mutation	SNP	A	TCGA-DU-7309-01A-11D-2086-08		29016792	214182581	4	4541											
CEP68	23177	broad.mit.edu	37	chr2	65296819	65296819	+	Missense_Mutation	SNP	C	C	G																															gcccctctagagcccaccagCcacaggccagtgatgccaac																										TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr2:65296819C>G	uc002sdl.4	+	1	455	c.241C>G	c.(241-243)Cca>Gca	p.P81A	CEP68_uc002sdj.2_Missense_Mutation_p.P81A|CEP68_uc010yqb.1_Missense_Mutation_p.P81A|CEP68_uc002sdk.4_Missense_Mutation_p.P81A|CEP68_uc010yqc.2_Missense_Mutation_p.P81A|CEP68_uc010yqd.1_Missense_Mutation_p.P81A	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	Homo sapiens centrosomal protein 68kDa (CEP68), mRNA.	81					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						AGCCCACCAGCCACAGGCCAG	0.632													9	53					0	0	1	0	0	G	65296819	C	G	65296819	3	3	102	1	0	0	0	0	1	0	0	0	3258	739	26	5	243	5	CEP68	2	65296819	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	36280027	65296819	177902554	5	4542	19	2									
CEP68	23177	broad.mit.edu	37	chr2	65296821	65296821	+	Silent	SNP	A	A	G																															ccctctagagcccaccagccAcaggccagtgatgccaacag																										TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr2:65296821A>G	uc002sdl.4	+	1	457	c.243A>G	c.(241-243)ccA>ccG	p.P81P	CEP68_uc002sdj.2_Silent_p.P81P|CEP68_uc010yqb.1_Silent_p.P81P|CEP68_uc002sdk.4_Silent_p.P81P|CEP68_uc010yqc.2_Silent_p.P81P|CEP68_uc010yqd.1_Silent_p.P81P	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	Homo sapiens centrosomal protein 68kDa (CEP68), mRNA.	81					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CCCACCAGCCACAGGCCAGTG	0.632													10	53					0	0	1	0	0	G	65296821	A	G	65296821	2	3	102	1	0	0	0	0	0	0	0	1	3258	146	6	3		3	CEP68	2	65296821	Silent	SNP	A	TCGA-DU-7309-01A-11D-2086-08	2	65296821	177902552	6	4543	19	2									
ST6GAL2	84620	broad.mit.edu	37	chr2	107460056	107460056	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagtagtcgtcatcctcCgggtagaaagcactttgaga	14	9	10	8	2	1	2	1	1	0	2	4	3	3	2	2	1	1	3	2	1	5	3			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr2:107460056C>T	uc002tdq.3	-	1	497	c.378G>A	c.(376-378)ccG>ccA	p.P126P	ST6GAL2_uc002tdr.3_Silent_p.P126P|ST6GAL2_uc002tds.3_Silent_p.P126P	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	126					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.P126Q(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CGTCATCCTCCGGGTAGAAAG	0.552													5	145					0	0	1	0	0	T	107460056	C	T	107460056	2	4	102	1	0	0	0	0	0	0	0	1	15221	639	23	2		2	ST6GAL2	2	107460056	Silent	SNP	C	TCGA-DU-7309-01A-11D-2086-08	42163235	107460056	135739317	7	4544											
CXCR2	3579	broad.mit.edu	37	chr2	218999633	218999633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccttttctactagatgccGccccatgtgaaccagaatcc	9	10	6	16	1	1	3	0	1	1	2	2	3	2	3	7	0	3	0	7	0	4	4	rs75759064	by1000genomes	TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr2:218999633G>A	uc002vgz.2	+	3	319	c.109G>A	c.(109-111)Gcc>Acc	p.A37T	CXCR2_uc002vha.2_Missense_Mutation_p.A37T|CXCR2_uc002vhb.2_Missense_Mutation_p.A37T|CXCR2_uc021vwp.1_Missense_Mutation_p.A37T	NM_001168298	NP_001548	P25025	CXCR2_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA.	37					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						ACTAGATGCCGCCCCATGTGA	0.448													53	116					0	0	1	0	0	A	218999633	G	A	218999633	3	1	102	1	0	0	0	0	1	0	0	0	4091	1087	38	1	111	1	CXCR2	2	218999633	Missense_Mutation	SNP	G	TCGA-DU-7309-01A-11D-2086-08	111539577	218999633	24199740	8	4545											
UGT2B11	10720	broad.mit.edu	37	chr4	70080096	70080096	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgtcatataattcccacagGatttcttgttcttgtgaaaa	12	16	6	7	0	3	1	1	1	2	0	4	2	4	2	1	1	0	1	1	1	4	7			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr4:70080096G>A	uc003heh.3	-	0	354	c.345C>T	c.(343-345)atC>atT	p.I115I	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	115					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.E114K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						ATTCCCACAGGATTTCTTGTT	0.299													7	22					0	0	1	0	0	A	70080096	G	A	70080096	2	1	102	1	0	0	0	0	0	0	0	1	16954	1164	41	3		3	UGT2B11	4	70080096	Silent	SNP	G	TCGA-DU-7309-01A-11D-2086-08		70080096	121074180	9	4546											
MTTP	4547	broad.mit.edu	37	chr4	100532549	100532549	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctactcgggttctggcattcTaaggagaagtaacctgaaca	12	10	10	9	1	2	2	0	1	2	1	3	3	2	2	1	3	3	3	1	3	5	5			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr4:100532549T>C	uc011cej.2	+	13	2022	c.2009T>C	c.(2008-2010)cTa>cCa	p.L670P	MTTP_uc003hvc.4_Missense_Mutation_p.L643P	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	643					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TCTGGCATTCTAAGGAGAAGT	0.433													7	156					0	0	1	0	0	C	100532549	T	C	100532549	3	2	102	1	0	0	0	0	1	0	0	0	9964	1522	53	4	1982	4	MTTP	4	100532549	Missense_Mutation	SNP	T	TCGA-DU-7309-01A-11D-2086-08	30452453	100532549	90621727	10	4547											
SEMA6A	57556	broad.mit.edu	37	chr5	115803413	115803413	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagccgtcgaatctgatgtgGttgtgctgggcaagagggaa	9	9	17	6	2	1	2	0	1	1	1	2	5	1	3	1	3	2	3	1	3	3	1			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr5:115803413G>C	uc003krx.4	-	18	2520	c.1811C>G	c.(1810-1812)aCc>aGc	p.T604S	SEMA6A_uc010jck.3_Missense_Mutation_p.T587S|SEMA6A_uc003krv.4_Missense_Mutation_p.T14S|SEMA6A_uc003krw.4_Intron|SEMA6A_uc010jcj.3_Missense_Mutation_p.T131S	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA.	587					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	p.L604L(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		ATCTGATGTGGTTGTGCTGGG	0.522													13	26					0	0	1	0	0	C	115803413	G	C	115803413	3	2	102	1	0	0	0	0	1	0	0	0	14039	1261	44	5	1340	5	SEMA6A	5	115803413	Missense_Mutation	SNP	G	TCGA-DU-7309-01A-11D-2086-08		115803413	65111847	11	4548											
GABRA6	2559	broad.mit.edu	37	chr5	161128598	161128598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caataaagtgctcacgagagCgcccatcttacaatcaacac	15	7	6	13	2	3	1	2	0	1	1	3	2	3	1	1	0	4	1	1	0	6	2			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr5:161128598C>T	uc003lyu.2	+	8	1519	c.1181C>T	c.(1180-1182)gCg>gTg	p.A394V	GABRA6_uc003lyv.2_Missense_Mutation_p.A165V	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	394					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTCACGAGAGCGCCCATCTTA	0.473										TCGA Ovarian(5;0.080)			16	55					0	0	1	0	0	T	161128598	C	T	161128598	3	4	102	1	0	0	0	0	1	0	0	0	6165	768	27	1	1215	1	GABRA6	5	161128598	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	45325185	161128598	19786662	12	4549											
ZNF318	24149	broad.mit.edu	37	chr6	43310590	43310590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcttggggctcttagtacGaaacttctcattgtttactt	8	16	9	8	1	2	0	1	0	2	0	3	1	2	0	0	3	3	4	0	3	4	8	rs147313268	byFrequency	TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr6:43310590G>A	uc003oux.3	-	6	3178	c.3100C>T	c.(3100-3102)Cgt>Tgt	p.R1034C	ZNF318_uc003ouw.3_Non-coding_Transcript	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	1034				RT -> CI (in Ref. 1; AAD47387/AAD17298).	meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTCTTAGTACGAAACTTCTCA	0.433													6	28					0	0	1	0	0	A	43310590	G	A	43310590	3	1	102	1	0	0	0	0	1	0	0	0	17833	1058	37	2	3755	2	ZNF318	6	43310590	Missense_Mutation	SNP	G	TCGA-DU-7309-01A-11D-2086-08		43310590	127804477	13	4550											
DOPEY1	23033	broad.mit.edu	37	chr6	83863326	83863326	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcattatgttgtgccctacCtcagaaatcacaggtactat	11	13	7	10	0	2	1	2	0	0	1	2	1	2	1	2	1	4	3	2	1	5	5			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr6:83863326C>G	uc011dyy.2	+	30	6459	c.6199C>G	c.(6199-6201)Ctc>Gtc	p.L2067V	DOPEY1_uc003pjs.1_Missense_Mutation_p.L2076V|DOPEY1_uc010kbl.1_Missense_Mutation_p.L2067V|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	2076					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGTGCCCTACCTCAGAAATCA	0.313													6	62					0	0	1	0	0	G	83863326	C	G	83863326	3	3	102	1	0	0	0	0	1	0	0	0	4707	681	24	5	6340	5	DOPEY1	6	83863326	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	40552736	83863326	87251741	14	4551											
AIM1	202	broad.mit.edu	37	chr6	106992514	106992514	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagaaggagaatacagggActggaaagcctggggaggtt	15	5	17	4	0	0	3	0	0	0	3	0	7	0	6	1	6	2	1	1	6	5	2			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr6:106992514A>G	uc003prh.3	+	9	4796	c.3884A>G	c.(3883-3885)gAc>gGc	p.D1295G	AIM1_uc003pri.3_Missense_Mutation_p.D99G	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	1295	Beta/gamma crystallin 'Greek key' 6.						sugar binding	p.R1294T(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GAATACAGGGACTGGAAAGCC	0.418													4	67					0	0	1	0	0	G	106992514	A	G	106992514	3	3	102	1	0	0	0	0	1	0	0	0	430	275	10	3	3922	3	AIM1	6	106992514	Missense_Mutation	SNP	A	TCGA-DU-7309-01A-11D-2086-08	23129188	106992514	64122553	15	4552											
PCMT1	5110	broad.mit.edu	37	chr6	150111138	150111138	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcagttgcatgaaggagctAaagctcttgatgtaggatct	12	12	11	6	0	3	2	1	2	2	0	3	4	3	4	0	2	3	5	0	2	4	4			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr6:150111138A>G	uc003qna.3	+	3	448	c.415A>G	c.(415-417)Aaa>Gaa	p.K139E	PCMT1_uc003qnb.3_Missense_Mutation_p.K139E|PCMT1_uc003qne.3_Missense_Mutation_p.K139E|PCMT1_uc011eeg.2_Missense_Mutation_p.K104E|PCMT1_uc003qnd.3_Intron|PCMT1_uc003qnf.3_Intron	NM_001252053	NP_001238982			Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase (PCMT1), transcript variant 6, mRNA.											kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		TGAAGGAGCTAAAGCTCTTGA	0.378													40	73					0	0	1	0	0	G	150111138	A	G	150111138	3	3	102	1	0	0	0	0	1	0	0	0	11585	363	13	3	429	3	PCMT1	6	150111138	Missense_Mutation	SNP	A	TCGA-DU-7309-01A-11D-2086-08	43118624	150111138	21003929	16	4553											
C7orf10	79783	broad.mit.edu	37	chr7	40899974	40899974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggccgcccccgctgctcGggcagcacacaacgcacatc	8	3	10	20	4	0	0	0	0	0	0	2	0	0	0	4	2	3	5	4	2	1	0			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr7:40899974G>A	uc022acd.1	+	14	1336	c.1312G>A	c.(1312-1314)Ggg>Agg	p.G438R	C7orf10_uc003thn.2_Missense_Mutation_p.G412R|C7orf10_uc003tho.2_Missense_Mutation_p.G364R|C7orf10_uc003thp.2_Non-coding_Transcript	NM_001193311	NP_001180240	Q9HAC7	CG010_HUMAN	Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.	412							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						CCCGCTGCTCGGGCAGCACAC	0.567													31	140					0	0	1	0	0	A	40899974	G	A	40899974	3	1	102	1	0	0	0	0	1	0	0	0	2376	1116	39	2	1259	2	C7orf10	7	40899974	Missense_Mutation	SNP	G	TCGA-DU-7309-01A-11D-2086-08		40899974	118238689	17	4554											
MUC17	140453	broad.mit.edu	37	chr7	100696423	100696423	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccgctccaagagagaggtGaaacggtgagcgagccccta	11	6	13	11	3	0	4	0	2	0	2	2	6	2	4	4	2	3	1	4	2	3	2			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr7:100696423G>C	uc003uxp.1	+	9	13313	c.13260G>C	c.(13258-13260)gtG>gtC	p.V4420V	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4420						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGAGAGAGGTGAAACGGTGAG	0.567													7	26					0	0	1	0	0	C	100696423	G	C	100696423	2	2	102	1	0	0	0	0	0	0	0	1	9974	1277	45	5		5	MUC17	7	100696423	Silent	SNP	G	TCGA-DU-7309-01A-11D-2086-08	59796449	100696423	58442240	18	4555											
OR2A25	392138	broad.mit.edu	37	chr7	143771775	143771775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggattttaggagtcttattgGcccttgtccatctagtgtta	7	17	10	7	0	2	0	0	0	2	0	3	2	3	2	2	3	0	1	2	3	4	7			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr7:143771775G>A	uc011ktx.2	+	0	463	c.463G>A	c.(463-465)Gcc>Acc	p.A155T		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					AGTCTTATTGGCCCTTGTCCA	0.458													6	138					0	0	1	0	0	A	143771775	G	A	143771775	3	1	102	1	0	0	0	0	1	0	0	0	10978	1203	42	3	465	3	OR2A25	7	143771775	Missense_Mutation	SNP	G	TCGA-DU-7309-01A-11D-2086-08	43075352	143771775	15366888	19	4556											
MYOM2	9172	broad.mit.edu	37	chr8	2040226	2040226	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccgaaacaccaagacgtcGgtggtggtgcagtgggaccg	9	6	15	11	4	0	1	0	0	0	1	2	3	1	2	3	4	2	1	3	4	2	0			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr8:2040226G>A	uc003wpx.4	+	15	2019	c.1881G>A	c.(1879-1881)tcG>tcA	p.S627S	MYOM2_uc011kwi.2_Silent_p.S52S	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	627	Fibronectin type-III 3.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCAAGACGTCGGTGGTGGTGC	0.577													16	174					0	0	1	0	0	A	2040226	G	A	2040226	2	1	102	1	0	0	0	0	0	0	0	1	10092	1103	39	2		2	MYOM2	8	2040226	Silent	SNP	G	TCGA-DU-7309-01A-11D-2086-08		2040226	144323796	20	4557											
LACTB2	51110	broad.mit.edu	37	chr8	71581352	71581352	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacgcgctgcagtacagcagCcattcccgcctcagccgccc	7	5	10	19	4	1	0	1	0	0	0	2	1	2	0	5	0	5	4	5	0	1	2			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr8:71581352C>G	uc003xyp.3	-	0	96	c.4G>C	c.(4-6)Gct>Cct	p.A2P	XKR9_uc003xyq.3_5'Flank|XKR9_uc010lzd.3_5'Flank|XKR9_uc010lze.3_5'Flank	NM_016027	NP_057111	Q53H82	LACB2_HUMAN	Homo sapiens lactamase, beta 2 (LACTB2), mRNA.	2							hydrolase activity|metal ion binding			endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			AGTACAGCAGCCATTCCCGCC	0.642											OREG0018822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	29					0	0	1	0	0	G	71581352	C	G	71581352	3	3	102	1	0	0	0	0	1	0	0	0	8598	739	26	5	890	5	LACTB2	8	71581352	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	69541126	71581352	74782670	21	4558											
NDST2	8509	broad.mit.edu	37	chr10	75565368	75565368	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaaagggggcttcgctcctGagggaaaagttcaaagtact	12	8	12	9	1	1	1	1	1	0	0	3	2	2	2	2	3	1	4	2	3	5	3			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr10:75565368G>C	uc001jvk.2	-	7	2527	c.1723C>G	c.(1723-1725)Cag>Gag	p.Q575E	NDST2_uc010qks.1_Missense_Mutation_p.Q201E|NDST2_uc010qkt.1_Missense_Mutation_p.Q452E|NDST2_uc001jvl.1_5'Flank|NDST2_uc009xro.2_Missense_Mutation_p.Q201E|NDST2_uc010qku.1_Missense_Mutation_p.Q450E	NM_003635	NP_003626	P52849	NDST2_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 (NDST2), mRNA.	575	Heparan sulfate N-deacetylase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.Q575E(2)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					CTTCGCTCCTGAGGGAAAAGT	0.512													3	41					0	0	1	0	0	C	75565368	G	C	75565368	3	2	102	1	0	0	0	0	1	0	0	0	10256	1299	45	5	960	5	NDST2	10	75565368	Missense_Mutation	SNP	G	TCGA-DU-7309-01A-11D-2086-08		75565368	59969379	22	4559											
IFIT5	24138	broad.mit.edu	37	chr10	91178137	91178137	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttcaccgtaaatcagaaaAtactgccatccatcattatt	15	13	3	10	1	3	1	3	0	0	1	4	1	4	1	3	0	2	1	3	0	6	5			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr10:91178137A>G	uc010qnh.2	+	1	1412	c.1181A>G	c.(1180-1182)aAt>aGt	p.N394S	IFIT5_uc010qng.1_Missense_Mutation_p.N346S	NM_012420	NP_036552	Q13325	IFIT5_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 5 (IFIT5), mRNA.	394							binding			endometrium(1)|large_intestine(4)|lung(4)	9						AAATCAGAAAATACTGCCATC	0.423													3	53					0	0	1	0	0	G	91178137	A	G	91178137	3	3	102	1	0	0	0	0	1	0	0	0	7525	101	4	3	1187	3	IFIT5	10	91178137	Missense_Mutation	SNP	A	TCGA-DU-7309-01A-11D-2086-08	15612769	91178137	44356610	23	4560											
SCD	6319	broad.mit.edu	37	chr10	102112184	102112184	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggagctcatcgtctgtggagCcaccgctcttacaaagctcg	8	9	11	13	3	3	0	1	0	2	0	5	2	3	2	2	2	4	3	2	2	2	1			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr10:102112184C>T	uc001kqy.3	+	2	862	c.372C>T	c.(370-372)agC>agT	p.S124S		NM_005063	NP_005054	O00767	ACOD_HUMAN	Homo sapiens stearoyl-CoA desaturase (delta-9-desaturase) (SCD), mRNA.	124					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		GTCTGTGGAGCCACCGCTCTT	0.522													67	119					0	0	1	0	0	T	102112184	C	T	102112184	2	4	102	1	0	0	0	0	0	0	0	1	13886	738	26	3		3	SCD	10	102112184	Silent	SNP	C	TCGA-DU-7309-01A-11D-2086-08	10934047	102112184	33422563	24	4561											
ABLIM1	3983	broad.mit.edu	37	chr10	116207683	116207683	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggccagtggtccgtctcaAtctttggtgtctcgctgggg	4	12	14	11	2	3	0	1	0	3	0	6	0	4	0	2	5	0	1	2	5	1	1			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr10:116207683A>G	uc021pyx.1	-	14	1790	c.1691T>C	c.(1690-1692)aTt>aCt	p.I564T	ABLIM1_uc021pyw.1_Missense_Mutation_p.I564T|ABLIM1_uc021pyy.1_Missense_Mutation_p.I532T|ABLIM1_uc021pyz.1_Missense_Mutation_p.I498T|ABLIM1_uc021pza.1_Missense_Mutation_p.I504T|ABLIM1_uc021pze.1_Intron|ABLIM1_uc021pzf.1_Missense_Mutation_p.I528T|ABLIM1_uc021pyv.1_Missense_Mutation_p.I234T|ABLIM1_uc021pzb.1_Intron|ABLIM1_uc021pzc.1_Missense_Mutation_p.I180T|ABLIM1_uc021pzd.1_Missense_Mutation_p.I377T|ABLIM1_uc021pyu.1_Missense_Mutation_p.I241T	NM_002313	NP_002304	O14639	ABLM1_HUMAN	Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA.	564					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GTCCGTCTCAATCTTTGGTGT	0.547													4	87					0	0	1	0	0	G	116207683	A	G	116207683	3	3	102	1	0	0	0	0	1	0	0	0	94	101	4	3	677	3	ABLIM1	10	116207683	Missense_Mutation	SNP	A	TCGA-DU-7309-01A-11D-2086-08	14095499	116207683	19327064	25	4562											
SLC39A13	91252	broad.mit.edu	37	chr11	47434972	47434972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccccaacaaagaccccactGctgctgccgccgcgctcaat	9	5	7	20	3	1	1	1	0	0	1	1	1	1	1	6	0	4	3	6	0	3	0			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr11:47434972G>A	uc009ylq.3	+	4	735	c.559G>A	c.(559-561)Gct>Act	p.A187T	SLC39A13_uc001nfd.3_Missense_Mutation_p.A187T|SLC39A13_uc001nfe.1_Non-coding_Transcript|SLC39A13_uc001nff.4_Missense_Mutation_p.A187T	NM_001128225	NP_001121697	Q96H72	S39AD_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 13 (SLC39A13), transcript variant 1, mRNA.	187	Poly-Ala.				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		AGACCCCACTGCTGCTGCCGC	0.657													13	31					0	0	1	0	0	A	47434972	G	A	47434972	3	1	102	1	0	0	0	0	1	0	0	0	14616	1319	46	3	573	3	SLC39A13	11	47434972	Missense_Mutation	SNP	G	TCGA-DU-7309-01A-11D-2086-08		47434972	87571544	26	4563											
ERC1	23085	broad.mit.edu	37	chr12	1219448	1219448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atggtgctttgagtactgagGaaagggaagaagaaatgaag	16	8	15	2	0	0	5	0	3	0	2	0	7	0	7	0	3	2	2	0	3	6	2			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr12:1219448G>A	uc001qjb.2	+	4	1493	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K	ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Missense_Mutation_p.E418K|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Intron|ERC1_uc001qjf.2_Missense_Mutation_p.E418K|ERC1_uc010sdv.1_Missense_Mutation_p.E194K|ERC1_uc009zdp.3_Missense_Mutation_p.E55K	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant epsilon, mRNA.	418					I-kappaB phosphorylation|multicellular organismal development|positive regulation of NF-kappaB transcription factor activity|positive regulation of anti-apoptosis|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GAGTACTGAGGAAAGGGAAGA	0.388													7	52					0	0	1	0	0	A	1219448	G	A	1219448	3	1	102	1	0	0	0	0	1	0	0	0	5210	1175	41	3	1266	3	ERC1	12	1219448	Missense_Mutation	SNP	G	TCGA-DU-7309-01A-11D-2086-08		1219448	132632447	27	4564											
PLCZ1	89869	broad.mit.edu	37	chr12	18854628	18854628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccattcctccaccttaccaCgcttatcagaaccttttctt	8	14	2	17	1	2	1	1	0	1	1	4	1	4	1	6	0	2	1	6	0	3	6			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr12:18854628C>T	uc021qvx.1	-	7	1138	c.947G>A	c.(946-948)cGt>cAt	p.R316H	PLCZ1_uc001rdv.4_Missense_Mutation_p.R212H|PLCZ1_uc001rdw.4_Missense_Mutation_p.R57H|PLCZ1_uc001rdu.1_Missense_Mutation_p.R57H|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	316					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CACCTTACCACGCTTATCAGA	0.413													4	19					0	0	1	0	0	T	18854628	C	T	18854628	3	4	102	1	0	0	0	0	1	0	0	0	12044	536	19	1	911	1	PLCZ1	12	18854628	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	17635180	18854628	114997267	28	4565											
TFCP2	7024	broad.mit.edu	37	chr12	51497961	51497961	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgactggagggggtggctCtggctggtggtttggtgaac	4	12	20	5	0	1	2	0	2	1	0	1	3	1	3	0	8	1	3	0	8	1	1			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr12:51497961C>G	uc001rxw.3	-	8	1664	c.943G>C	c.(943-945)Gag>Cag	p.E315Q	TFCP2_uc001rxv.2_Missense_Mutation_p.E315Q|TFCP2_uc009zlx.2_Missense_Mutation_p.E264Q|TFCP2_uc009zly.1_Missense_Mutation_p.E217Q	NM_005653	NP_005644	Q12800	TFCP2_HUMAN	Homo sapiens transcription factor CP2 (TFCP2), transcript variant 1, mRNA.	315	DNA-binding.|Poly-Pro.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						GGGGGTGGCTCTGGCTGGTGG	0.418													6	135					0	0	1	0	0	G	51497961	C	G	51497961	3	3	102	1	0	0	0	0	1	0	0	0	15792	922	32	5	593	5	TFCP2	12	51497961	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	32643333	51497961	82353934	29	4566											
KRT84	3890	broad.mit.edu	37	chr12	52779179	52779179	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagcctacagctgctatcCggggtgagtacgatccaaag	11	7	13	10	2	0	2	0	1	0	1	2	4	2	2	3	2	5	3	3	2	4	3			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr12:52779179C>A	uc001sah.1	-	0	239	c.191G>T	c.(190-192)cGg>cTg	p.R64L		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	Homo sapiens keratin 84 (KRT84), mRNA.	64	Head.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCTGCTATCCGGGGTGAGTA	0.597													3	61					1	1	1	1	0	A	52779179	C	A	52779179	3	1	102	1	0	0	0	0	1	0	0	0	8498	652	23	5	1647	5	KRT84	12	52779179	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	1281218	52779179	81072716	30	4567											
KRT6C	286887	broad.mit.edu	37	chr12	52863046	52863046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgccgacaccgctggcacCgccatagccactggagatgg	9	5	12	15	3	0	1	0	0	0	1	0	3	0	1	5	3	2	2	5	3	1	1	rs140943956	byFrequency	TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr12:52863046C>T	uc001sal.4	-	8	1543	c.1495G>A	c.(1495-1497)Ggt>Agt	p.G499S		NM_173086	NP_775109	P48668	K2C6C_HUMAN	Homo sapiens keratin 6C (KRT6C), mRNA.	499	Tail.				cytoskeleton organization	keratin filament	structural molecule activity	p.G499S(2)|p.G498G(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CCGCTGGCACCGCCATAGCCA	0.612													7	30					0	0	1	0	0	T	52863046	C	T	52863046	3	4	102	1	0	0	0	0	1	0	0	0	8482	652	23	2	203	2	KRT6C	12	52863046	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	83867	52863046	80988849	31	4568											
PA2G4	5036	broad.mit.edu	37	chr12	56501319	56501319	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaggggacccaagtaacAgggaggaaagcagatgttat	15	6	13	7	0	0	1	0	0	0	1	0	4	0	4	1	4	3	3	1	4	5	3			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr12:56501319A>G	uc001sjm.3	+	4	827	c.408A>G	c.(406-408)acA>acG	p.T136T		NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	Homo sapiens proliferation-associated 2G4, 38kDa (PA2G4), mRNA.	136					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|rRNA processing|regulation of translation	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			CCCAAGTAACAGGGAGGAAAG	0.453													20	128					0	0	1	0	0	G	56501319	A	G	56501319	2	3	102	1	0	0	0	0	0	0	0	1	11361	175	7	4		4	PA2G4	12	56501319	Silent	SNP	A	TCGA-DU-7309-01A-11D-2086-08	3638273	56501319	77350576	32	4569											
MDM2	4193	broad.mit.edu	37	chr12	69229630	69229630	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcttgatgctggtgtaagtGaacattcaggtgattggttg	9	15	13	4	0	2	3	1	3	1	0	2	3	2	3	0	3	2	3	0	3	2	5			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr12:69229630G>C	uc021rad.1	+	7	859	c.385G>C	c.(385-387)Gaa>Caa	p.E129Q	MDM2_uc001sui.3_Missense_Mutation_p.E236Q|MDM2_uc009zqx.3_Missense_Mutation_p.E181Q|MDM2_uc009zqy.1_Missense_Mutation_p.E225Q|MDM2_uc021rae.1_Intron|MDM2_uc001sun.4_Missense_Mutation_p.E55Q|MDM2_uc009zra.3_Missense_Mutation_p.E55Q|MDM2_uc021raf.1_5'UTR|MDM2_uc009zrc.3_Intron|MDM2_uc009zrd.3_5'UTR|MDM2_uc009zre.3_Intron|MDM2_uc001suo.3_Missense_Mutation_p.E30Q|MDM2_uc009zrf.3_Intron|MDM2_uc009zrg.3_Intron|MDM2_uc009zrh.3_Missense_Mutation_p.E30Q|MDM2_uc021rag.1_Non-coding_Transcript|MDM2_uc021rah.1_Missense_Mutation_p.E200Q|MDM2_uc021rai.1_5'UTR|MDM2_uc021raj.1_Intron			Q00987	MDM2_HUMAN	Homo sapiens Mdm2 p53 binding protein homolog (mouse) (MDM2), transcript variant MDM2, mRNA.	230					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|cellular response to hypoxia|establishment of protein localization|interspecies interaction between organisms|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TGGTGTAAGTGAACATTCAGG	0.363			A		"sarcoma, glioma, colorectal, other"								4	112					0	0	1	0	0	C	69229630	G	C	69229630	3	2	102	1	0	0	0	0	1	0	0	0	9413	1291	45	5	740	5	MDM2	12	69229630	Missense_Mutation	SNP	G	TCGA-DU-7309-01A-11D-2086-08	12728311	69229630	64622265	33	4570											
BNIP2	663	broad.mit.edu	37	chr15	59961125	59961125	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtatgccaacgtattccaTggggacaagttctgctagtt	9	13	11	8	1	1	0	0	0	1	0	2	1	2	1	2	3	3	5	2	3	5	6			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr15:59961125T>C	uc010uhc.2	-	8	1225	c.1222A>G	c.(1222-1224)Atg>Gtg	p.M408V	BNIP2_uc010uhb.2_Missense_Mutation_p.M349V	NM_004330	NP_004321	Q12982	BNIP2_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 2 (BNIP2), mRNA.	287					anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation	nuclear envelope|perinuclear region of cytoplasm	GTPase activator activity|calcium ion binding|protein binding			NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						ACGTATTCCATGGGGACAAGT	0.308													27	47					0	0	1	0	0	C	59961125	T	C	59961125	3	2	102	1	0	0	0	0	1	0	0	0	1477	1464	51	3	93	3	BNIP2	15	59961125	Missense_Mutation	SNP	T	TCGA-DU-7309-01A-11D-2086-08		59961125	42570267	34	4571											
TLN2	83660	broad.mit.edu	37	chr15	63127959	63127959	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctccatccctgccaatgcTgcagacgacggacagtggtc	8	7	12	14	2	0	1	0	0	0	1	3	3	2	2	3	3	3	3	3	3	1	0			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr15:63127959T>C	uc002alb.4	+	52	7152	c.7152T>C	c.(7150-7152)gcT>gcC	p.A2384A	TLN2_uc002alc.4_Silent_p.A777A|TLN2_uc010uic.2_5'UTR|AK125516_uc002ale.1_5'Flank	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	2384	I/LWEQ.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CTGCCAATGCTGCAGACGACG	0.602													40	194					0	0	1	0	0	C	63127959	T	C	63127959	2	2	102	1	0	0	0	0	0	0	0	1	15945	1567	55	4		4	TLN2	15	63127959	Silent	SNP	T	TCGA-DU-7309-01A-11D-2086-08	3166834	63127959	39403433	35	4572											
IDH2	3418	broad.mit.edu	37	chr15	90631837	90631837	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acctggtcgccatgggcgtgCctgccaatggtgatgggctt	5	10	15	11	2	0	1	0	1	0	0	1	1	0	1	4	4	2	1	4	4	1	1			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr15:90631837C>A	uc002box.3	-	3	602	c.516G>T	c.(514-516)agG>agT	p.R172S	IDH2_uc010uqb.2_Missense_Mutation_p.R120S|IDH2_uc010uqc.2_Missense_Mutation_p.R42S	NM_002168	NP_002159	P48735	IDHP_HUMAN	Homo sapiens isocitrate dehydrogenase 2 (NADP+), mitochondrial (IDH2), nuclear gene encoding mitochondrial protein, mRNA.	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding	p.R172K(242)|p.R172S(35)|p.R172M(23)|p.R172W(16)|p.R172?(13)|p.R172G(5)|p.G171D(4)|p.R172N(2)|p.R172L(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CATGGGCGTGCCTGCCAATGG	0.637			M		GBM								26	43					6.32553e-13	6.65271e-13	1	1	0	A	90631837	C	A	90631837	3	1	102	1	0	0	0	0	1	0	0	0	7495	738	26	5	874	5	IDH2	15	90631837	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	27503878	90631837	11899555	36	4573											
ACSM1	116285	broad.mit.edu	37	chr16	20648161	20648161	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcccttgtcatcaatgAcctgtagcaagaggcctgtg	8	11	11	11	0	2	2	2	1	0	1	2	2	2	2	3	1	3	3	3	1	3	2			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr16:20648161A>G	uc002dhm.1	-	9	1266	c.1198_splice	c.e9-1	p.V400_splice	ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Splice_Site_p.V400_splice	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	400					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GTCATCAATGACCTGTAGCAA	0.527													22	45					0	0	1	0	0	G	20648161	A	G	20648161	5	3	102	1	0	0	0	0	0	0	1	0	182	289	10	3	554	3	ACSM1	16	20648161	Splice_Site	SNP	A	TCGA-DU-7309-01A-11D-2086-08		20648161	69706592	37	4574											
DNAH3	55567	broad.mit.edu	37	chr16	20990739	20990739	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcctcttgctattcaggagCgtcttgaaggttagaatcaa	10	13	10	8	1	4	2	2	1	2	1	4	3	4	3	1	2	3	2	1	2	5	5			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr16:20990739C>T	uc010vbe.2	-	49	7989	c.7989G>A	c.(7987-7989)acG>acA	p.T2663T	DNAH3_uc010vbd.2_Silent_p.T98T	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2663	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TATTCAGGAGCGTCTTGAAGG	0.478													6	87					0	0	1	0	0	T	20990739	C	T	20990739	2	4	102	1	0	0	0	0	0	0	0	1	4603	755	27	1		1	DNAH3	16	20990739	Silent	SNP	C	TCGA-DU-7309-01A-11D-2086-08	342578	20990739	69364014	38	4575											
FAM57B	83723	broad.mit.edu	37	chr16	30037991	30037991	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagcaccatgaggaactccTtgtgcaggtagccacgcgct	9	7	13	12	2	0	1	0	1	0	0	1	3	1	3	3	3	4	4	3	3	2	2			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr16:30037991T>C	uc002dvt.3	-	2	721	c.383A>G	c.(382-384)aAg>aGg	p.K128R	BOLA2_uc010bzb.1_Intron	NM_031478	NP_113666	Q71RH2	FA57B_HUMAN	Homo sapiens family with sequence similarity 57, member B (FAM57B), mRNA.	128	TLC.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GAGGAACTCCTTGTGCAGGTA	0.677													18	40					0	0	1	0	0	C	30037991	T	C	30037991	3	2	102	1	0	0	0	0	1	0	0	0	5589	1609	56	4	453	4	FAM57B	16	30037991	Missense_Mutation	SNP	T	TCGA-DU-7309-01A-11D-2086-08	9047252	30037991	60316762	39	4576											
GNAO1	2775	broad.mit.edu	37	chr16	56226231	56226231	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacctcaaagaggatggcatCagcgccgccaaagacgtgaa	15	4	11	11	3	2	3	2	1	0	2	2	4	2	4	3	2	2	1	3	2	4	0			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr16:56226231C>G	uc002eit.4	+	0	981	c.84C>G	c.(82-84)atC>atG	p.I28M	GNAO1_uc002eiu.4_Missense_Mutation_p.I28M|LOC283856_uc002eis.1_5'Flank	NM_138736	NP_620073	P09471	GNAO_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O (GNAO1), transcript variant 2, mRNA.	28					G-protein signaling, coupled to cAMP nucleotide second messenger|dopamine receptor signaling pathway|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				AGGATGGCATCAGCGCCGCCA	0.637													29	37					0	0	1	0	0	G	56226231	C	G	56226231	3	3	102	1	0	0	0	0	1	0	0	0	6508	816	29	5	86	5	GNAO1	16	56226231	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	26188240	56226231	34128522	40	4577											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr17:7577538C>T	uc002gim.2	-	6	937	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.3_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q|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.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			62	32					0	0	1	0	0	T	7577538	C	T	7577538	3	4	102	1	0	0	0	0	1	0	0	0	16378	652	23	2	547	2	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08		7577538	73617672	41	4578											
ZACN	353174	broad.mit.edu	37	chr17	74076491	74076492	+	Frame_Shift_Del	DEL	CT	CT	-																															ctgcagcctcagcttctacgCtctcagcaacacgggtgctg																										TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr17:74076491_74076492delCT	uc002jqn.2	+	4	613_614	c.530_531delCT	c.(529-531)gctfs	p.A177fs	ZACN_uc002jqo.2_Non-coding_Transcript|ZACN_uc010dgu.2_Intron	NM_180990	NP_851321	Q401N2	ZACN_HUMAN	Homo sapiens zinc activated ligand-gated ion channel (ZACN), mRNA.	177					response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						AGCTTCTACGCTCTCAGCAACA	0.644													60	94	---	---	---	---						-	74076492	CT	-	74076491	7	5	102	1	0	1	0	1	0	0	0	0	17507	797	28	0	548	0	ZACN	17	74076491	Frame_Shift_Del	DEL	CT	TCGA-DU-7309-01A-11D-2086-08	66498953	74076491	7118719	42	4579											
EPB41L3	23136	broad.mit.edu	37	chr18	5397173	5397173	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccaggacagctttagcgaCctcctcccctccttcctctt	5	13	5	18	1	1	0	0	0	1	0	6	2	6	1	7	1	2	1	7	1	1	5			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr18:5397173C>G	uc002kmt.1	-	17	2811	c.2725G>C	c.(2725-2727)Gtc>Ctc	p.V909L	EPB41L3_uc010wzh.1_Missense_Mutation_p.V740L|EPB41L3_uc002kmu.1_Missense_Mutation_p.V687L|EPB41L3_uc010dkq.1_Missense_Mutation_p.V578L|EPB41L3_uc002kms.1_Missense_Mutation_p.V144L|EPB41L3_uc010wze.1_Missense_Mutation_p.V214L|EPB41L3_uc010wzf.1_Missense_Mutation_p.V206L|EPB41L3_uc010wzg.1_Missense_Mutation_p.V181L|EPB41L3_uc010dkr.2_Missense_Mutation_p.V301L	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	909	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GCTTTAGCGACCTCCTCCCCT	0.567													7	110					0	0	1	0	0	G	5397173	C	G	5397173	3	3	102	1	0	0	0	0	1	0	0	0	5154	507	18	5	558	5	EPB41L3	18	5397173	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08		5397173	72680075	43	4580											
VAV1	7409	broad.mit.edu	37	chr19	6828446	6828446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggagctggtgaaacacaCgcaggaggcgatggagaagg	13	4	17	7	2	1	2	1	1	0	1	1	6	1	4	0	6	2	2	0	6	2	0			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr19:6828446C>T	uc002mfu.1	+	10	1137	c.1040C>T	c.(1039-1041)aCg>aTg	p.T347M	VAV1_uc010xjh.1_Missense_Mutation_p.T315M|VAV1_uc010dva.1_Missense_Mutation_p.T347M|VAV1_uc002mfv.1_Missense_Mutation_p.T292M	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	347	DH.				T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	p.T347M(2)|p.T347T(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GTGAAACACACGCAGGAGGCG	0.622													5	56					0	0	1	0	0	T	6828446	C	T	6828446	3	4	102	1	0	0	0	0	1	0	0	0	17128	536	19	1	1082	1	VAV1	19	6828446	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08		6828446	52300537	44	4581											
CGB8	94115	broad.mit.edu	37	chr19	49557632	49557632	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggggcctttgaggaagaGgaggcctggaagcgggggtc	8	5	22	6	1	0	2	0	1	0	1	1	6	0	6	2	9	1	0	2	9	2	1			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr19:49557632G>T	uc002pmd.3	-	2	1634	c.414C>A	c.(412-414)tcC>tcA	p.S138S	CGB8_uc002pmc.3_Intron|CGB8_uc002pme.3_Silent_p.S138S	NM_033142	NP_149133	P01233	CGHB_HUMAN	Homo sapiens chorionic gonadotropin, beta polypeptide 7 (CGB7), mRNA.	138					apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	p.D137A(1)		pancreas(1)	1		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Choriogonadotropin alfa(DB00097)	TTGAGGAAGAGGAGGCCTGGA	0.637													3	61					0.00024832	0.000252459	1	1	0	T	49557632	G	T	49557632	2	4	102	1	0	0	0	0	0	0	0	1	3301	987	35	5		5	CGB8	19	49557632	Silent	SNP	G	TCGA-DU-7309-01A-11D-2086-08	42729186	49557632	9571351	45	4582											
PYGB	5834	broad.mit.edu	37	chr20	25261592	25261592	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttttggcaccagcacgtggCcgcgctgtttcccggcgatg	4	10	14	13	5	0	0	0	0	0	0	1	1	1	0	3	3	1	5	3	3	0	3			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr20:25261592C>G	uc002wup.3	+	10	1356	c.1247C>G	c.(1246-1248)gCc>gGc	p.A416G		NM_002862	NP_002853	P11216	PYGB_HUMAN	Homo sapiens phosphorylase, glycogen; brain (PYGB), mRNA.	416					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	CAGCACGTGGCCGCGCTGTTT	0.647													23	151					0	0	1	0	0	G	25261592	C	G	25261592	3	3	102	1	0	0	0	0	1	0	0	0	12860	739	26	5	1289	5	PYGB	20	25261592	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08		25261592	37763928	46	4583											
AR	367	broad.mit.edu	37	chrX	66765383	66765383	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccccgagagaggttgcgTcccagagcctggagccgccg	7	4	14	16	4	0	2	0	0	0	2	1	5	1	3	7	2	3	1	7	2	0	1			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chrX:66765383T>C	uc004dwu.2	+	0	1510	c.395T>C	c.(394-396)gTc>gCc	p.V132A	AR_uc011mpd.2_Missense_Mutation_p.V132A|AR_uc011mpe.1_Non-coding_Transcript|AR_uc011mpf.1_Missense_Mutation_p.V132A|AR_uc022byj.1_Non-coding_Transcript|AR_uc022byk.1_Missense_Mutation_p.V132A	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	130	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	AGAGGTTGCGTCCCAGAGCCT	0.677									Androgen Insensitivity Syndrome				3	2					0	0	1	0	0	C	66765383	T	C	66765383	3	2	102	1	0	0	0	0	1	0	0	0	836	1667	58	3	397	3	AR	23	66765383	Missense_Mutation	SNP	T	TCGA-DU-7309-01A-11D-2086-08		66765383	88505177	47	4584											
TEX11	56159	broad.mit.edu	37	chrX	70073157	70073157	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttccagcatccaaccattCttttcctattctcatattca	10	17	1	13	0	3	0	2	0	2	0	7	0	6	0	4	0	2	1	4	0	3	8			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chrX:70073157C>A	uc004dyl.3	-	6	553	c.391G>T	c.(391-393)Gaa>Taa	p.E131*	TEX11_uc004dym.3_Nonsense_Mutation_p.E116*	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.	131							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TCCAACCATTCTTTTCCTATT	0.343													16	37					3.32936e-07	3.44222e-07	1	1	0	A	70073157	C	A	70073157	4	1	102	1	0	0	0	0	0	1	0	0	15771	922	32	5	2531	5	TEX11	23	70073157	Nonsense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	3307774	70073157	85197403	48	4585											
ATRX	546	broad.mit.edu	37	chrX	76813014	76813014	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtataaagttcagtaagctCattcatagtaaaatgacgct	16	12	7	6	1	3	1	3	1	0	0	3	1	3	1	0	0	1	6	0	0	7	7			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chrX:76813014C>A	uc004ecp.4	-	29	6839	c.6607G>T	c.(6607-6609)Gag>Tag	p.E2203*	ATRX_uc004ecq.4_Nonsense_Mutation_p.E2165*|ATRX_uc004eco.4_Nonsense_Mutation_p.E1988*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2203	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCAGTAAGCTCATTCATAGTA	0.393			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						47	57					8.04919e-23	8.61404e-23	1	1	0	A	76813014	C	A	76813014	4	1	102	1	0	0	0	0	0	1	0	0	1208	835	29	5	895	5	ATRX	23	76813014	Nonsense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	6739857	76813014	78457546	49	4586											
MBNL3	55796	broad.mit.edu	37	chrX	131524902	131524902	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggcagctgaatggttcatCtgatgatgagctgccttgag	9	11	14	7	0	2	5	1	5	1	0	2	6	2	5	1	2	3	4	1	2	1	2			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chrX:131524902C>G	uc004ewv.4	-	3	1447	c.744G>C	c.(742-744)caG>caC	p.Q248H	AK095439_uc004ewr.1_Intron|MBNL3_uc004eww.3_Missense_Mutation_p.Q152H|MBNL3_uc004ewt.3_Missense_Mutation_p.Q198H|MBNL3_uc004ewx.2_Missense_Mutation_p.Q198H|MBNL3_uc011muz.2_Missense_Mutation_p.Q152H|MBNL3_uc004ewu.4_Missense_Mutation_p.Q248H	NM_018388	NP_001164175	Q9NUK0	MBNL3_HUMAN	Homo sapiens muscleblind-like 3 (Drosophila) (MBNL3), transcript variant 1, mRNA.	248					RNA splicing|mRNA processing|multicellular organismal development|regulation of RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					AATGGTTCATCTGATGATGAG	0.458													5	79					0	0	1	0	0	G	131524902	C	G	131524902	3	3	102	1	0	0	0	0	1	0	0	0	9355	912	32	5	401	5	MBNL3	23	131524902	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	54711888	131524902	23745658	50	4587											
KIF1B	23095	broad.mit.edu	37	chr1	10386237	10386237	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctcccccactttttccaCggccgattccgacatcactg	7	10	5	19	3	1	0	1	0	0	0	4	2	4	0	6	1	0	0	6	1	0	3			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:10386237C>T	uc001aqx.4	+	26	2946	c.2744C>T	c.(2743-2745)aCg>aTg	p.T915M	KIF1B_uc001aqw.4_Missense_Mutation_p.T869M|KIF1B_uc001aqy.3_Missense_Mutation_p.T889M|KIF1B_uc001aqz.3_Missense_Mutation_p.T915M|KIF1B_uc001ara.3_Missense_Mutation_p.T875M|KIF1B_uc001arb.3_Missense_Mutation_p.T901M	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	915					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	p.T869M(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		ACTTTTTCCACGGCCGATTCC	0.572													21	220					0	0	1	0	0	T	10386237	C	T	10386237	3	4	103	1	0	0	0	0	1	0	0	0	8284	536	19	1	4189	1	KIF1B	1	10386237	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08		10386237	238864384	1	4588											
ALDH4A1	8659	broad.mit.edu	37	chr1	19209803	19209803	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggtacaccgtgctgttggtGctcgggggcacgctgatggg	4	9	18	10	4	0	1	0	1	0	0	1	1	0	1	1	5	3	6	1	5	1	2			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:19209803G>A	uc001bbb.3	-	5	849	c.573C>T	c.(571-573)agC>agT	p.S191S	ALDH4A1_uc010ocu.2_Silent_p.S131S|ALDH4A1_uc001bbc.3_Silent_p.S191S|ALDH4A1_uc021ohl.1_Silent_p.S191S|MIR4695_uc021ohm.1_5'Flank	NM_170726	NP_001154976	P30038	AL4A1_HUMAN	Homo sapiens aldehyde dehydrogenase 4 family, member A1 (ALDH4A1), nuclear gene encoding mitochondrial protein, transcript variant P5CDhS, mRNA.	191				PPS -> LPY (in Ref. 9; AA sequence).	proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	TGCTGTTGGTGCTCGGGGGCA	0.647													18	71					0	0	1	0	0	A	19209803	G	A	19209803	2	1	103	1	0	0	0	0	0	0	0	1	501	1310	46	3		3	ALDH4A1	1	19209803	Silent	SNP	G	TCGA-DU-8158-01A-11D-2253-08	8823566	19209803	230040818	2	4589			1	8		2	2	36	G		5.765943e-05
ALDH4A1	8659	broad.mit.edu	37	chr1	19209838	19209838	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgggctgctgcccctccaGctccaccgcatacttggcat	6	9	10	16	1	0	0	0	0	0	0	2	1	2	0	5	2	4	5	5	2	1	2			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:19209838G>C	uc001bbb.3	-	5	814	c.538C>G	c.(538-540)Ctg>Gtg	p.L180V	ALDH4A1_uc010ocu.2_Missense_Mutation_p.L120V|ALDH4A1_uc001bbc.3_Missense_Mutation_p.L180V|ALDH4A1_uc021ohl.1_Missense_Mutation_p.L180V|MIR4695_uc021ohm.1_5'Flank	NM_170726	NP_001154976	P30038	AL4A1_HUMAN	Homo sapiens aldehyde dehydrogenase 4 family, member A1 (ALDH4A1), nuclear gene encoding mitochondrial protein, transcript variant P5CDhS, mRNA.	180					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	TGCCCCTCCAGCTCCACCGCA	0.642													22	58					0	0	1	0	0	C	19209838	G	C	19209838	3	2	103	1	0	0	0	0	1	0	0	0	501	962	34	5	1193	5	ALDH4A1	1	19209838	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	35	19209838	230040783	3	4590			1	8		2	2	36	G		5.765943e-05
TMEM39B	55116	broad.mit.edu	37	chr1	32542835	32542835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcgcttcaccgttctcaCggcaacaggctggagtctgt	7	10	10	14	3	3	0	2	0	2	0	5	1	3	1	1	3	1	4	1	3	1	2			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:32542835C>T	uc010ogv.2	+	4	652	c.506C>T	c.(505-507)aCg>aTg	p.T169M	TMEM39B_uc010ogt.1_Intron|TMEM39B_uc010ogu.1_Missense_Mutation_p.T42M|TMEM39B_uc001buf.4_Intron|TMEM39B_uc010ogw.2_Intron	NM_018056	NP_060526	Q9GZU3	TM39B_HUMAN	Homo sapiens transmembrane protein 39B (TMEM39B), mRNA.	169						integral to membrane				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				ACCGTTCTCACGGCAACAGGC	0.592													17	160					0	0	1	0	0	T	32542835	C	T	32542835	3	4	103	1	0	0	0	0	1	0	0	0	16159	536	19	1	524	1	TMEM39B	1	32542835	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08	13332997	32542835	216707786	4	4591											
EPHA10	284656	broad.mit.edu	37	chr1	38227461	38227461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgaagctctcgtccgccgCgatcgtgtcgattttgcggg	4	11	14	12	8	1	1	0	1	1	0	5	3	2	1	2	1	2	1	2	1	1	2			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:38227461C>T	uc009vvi.3	-	2	552	c.466G>A	c.(466-468)Gcg>Acg	p.A156T	EPHA10_uc001cbw.4_Missense_Mutation_p.A156T	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	156						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCGTCCGCCGCGATCGTGTCG	0.657													4	40					0	0	1	0	0	T	38227461	C	T	38227461	3	4	103	1	0	0	0	0	1	0	0	0	5166	768	27	1	2658	1	EPHA10	1	38227461	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08	5684626	38227461	211023160	5	4592											
BTBD8	284697	broad.mit.edu	37	chr1	92606709	92606709	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgatatgtatggactagaaGgattaaaagaagtagcaatc	17	10	10	4	0	0	3	0	1	0	2	1	5	0	5	0	2	1	3	0	2	9	5			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:92606709G>T	uc001doo.3	+	6	1138	c.871G>T	c.(871-873)Gga>Tga	p.G291*	BTBD8_uc010otc.2_Intron	NM_183242	NP_899065	Q5XKL5	BTBD8_HUMAN	Homo sapiens BTB (POZ) domain containing 8 (BTBD8), mRNA.	291						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		TGGACTAGAAGGATTAAAAGA	0.299													3	58					0.150653	0.157715	1	1	0	T	92606709	G	T	92606709	4	4	103	1	0	0	0	0	0	1	0	0	1547	1001	35	5	897	5	BTBD8	1	92606709	Nonsense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	54379248	92606709	156643912	6	4593											
APOA1BP	128240	broad.mit.edu	37	chr1	156563279	156563279	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagggcgatgttcgggaacCgttccacagcatcctgagtg	9	8	13	11	3	0	1	0	1	0	0	3	3	2	2	3	2	2	3	3	2	2	2			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:156563279C>A	uc001fph.3	+	4	635	c.596C>A	c.(595-597)cCg>cAg	p.P199Q	APOA1BP_uc001fpi.3_Silent_p.T180T|APOA1BP_uc001fpk.3_Missense_Mutation_p.P96Q|APOA1BP_uc010php.1_Missense_Mutation_p.P96Q	NM_144772	NP_658985	Q8NCW5	AIBP_HUMAN	Homo sapiens apolipoprotein A-I binding protein (APOA1BP), mRNA.	199	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTTCGGGAACCGTTCCACAGC	0.562													3	88					1	1	1	1	0	A	156563279	C	A	156563279	3	1	103	1	0	0	0	0	1	0	0	0	781	652	23	5	614	5	APOA1BP	1	156563279	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08	63956570	156563279	92687342	7	4594											
FAM5C	339479	broad.mit.edu	37	chr1	190067492	190067492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccaggttccgggaagggtCaataaactccagaggttcat	11	8	12	10	1	2	1	2	0	0	1	4	2	4	2	3	4	1	2	3	4	4	3			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:190067492C>T	uc001gse.1	-	7	2189	c.1957G>A	c.(1957-1959)Gac>Aac	p.D653N	FAM5C_uc010pot.1_Missense_Mutation_p.D551N	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	653						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CGGGAAGGGTCAATAAACTCC	0.428													35	57					0	0	1	0	0	T	190067492	C	T	190067492	3	4	103	1	0	0	0	0	1	0	0	0	5594	826	29	3	347	3	FAM5C	1	190067492	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08	33504213	190067492	59183129	8	4595											
LRP1B	53353	broad.mit.edu	37	chr2	141274478	141274478	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cacagtggaattcatcacgtCcatcctcacaatctttctga	11	12	5	13	1	5	1	3	1	2	0	7	2	7	2	2	1	0	0	2	1	2	2			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr2:141274478C>G	uc002tvj.1	-	49	9101	c.8129G>C	c.(8128-8130)gGa>gCa	p.G2710A		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2710	LDL-receptor class A 15.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCATCACGTCCATCCTCACA	0.328										TSP Lung(27;0.18)			25	67					0	0	1	0	0	G	141274478	C	G	141274478	3	3	103	1	0	0	0	0	1	0	0	0	8955	855	30	5	5838	5	LRP1B	2	141274478	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08		141274478	101924895	9	4596											
DNAH7	56171	broad.mit.edu	37	chr2	196877622	196877622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attctttgatatcaactaaaCgtaattttctgcaaaagata	16	15	4	6	1	3	2	1	1	2	1	3	2	3	2	0	0	3	2	0	0	8	8			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr2:196877622C>T	uc002utj.4	-	9	979	c.878G>A	c.(877-879)cGt>cAt	p.R293H		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	293	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						ATCAACTAAACGTAATTTTCT	0.279													16	23					0	0	1	0	0	T	196877622	C	T	196877622	3	4	103	1	0	0	0	0	1	0	0	0	4606	536	19	1	11420	1	DNAH7	2	196877622	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08	55603144	196877622	46321751	10	4597											
PBRM1	55193	broad.mit.edu	37	chr3	52597305	52597305	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctgtcaccttcacctgtggGggtgtgtagggcatgaggtc	5	11	15	10	0	2	1	2	1	0	0	3	1	2	1	3	4	0	2	3	4	1	2			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr3:52597305G>A	uc003des.2	-	23	4092	c.4080C>T	c.(4078-4080)ccC>ccT	p.P1360P	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Silent_p.P1360P|PBRM1_uc003der.2_Silent_p.P1328P|PBRM1_uc003det.2_Silent_p.P1375P|PBRM1_uc003deu.2_Silent_p.P1375P|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Silent_p.P1360P|PBRM1_uc010hmk.1_Silent_p.P1335P|PBRM1_uc003dey.2_Intron|PBRM1_uc003dez.1_Silent_p.P1359P	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	1360					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCACCTGTGGGGGTGTGTAGG	0.498			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								4	64					0	0	1	0	0	A	52597305	G	A	52597305	2	1	103	1	0	0	0	0	0	0	0	1	11491	1219	43	3		3	PBRM1	3	52597305	Silent	SNP	G	TCGA-DU-8158-01A-11D-2253-08		52597305	145425125	11	4598											
CACNA1D	776	broad.mit.edu	37	chr3	53837571	53837571	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcagtagtgaggaatgctacGaggatgacagctcgcccacc	11	7	12	11	2	1	2	1	2	0	0	2	5	1	4	2	2	3	3	2	2	3	2			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr3:53837571G>C	uc003dgv.4	+	43	5720	c.5557G>C	c.(5557-5559)Gag>Cag	p.E1853Q	CACNA1D_uc003dgu.4_Missense_Mutation_p.E1873Q|CACNA1D_uc003dgy.4_Missense_Mutation_p.E1829Q|CACNA1D_uc003dgw.4_Missense_Mutation_p.E1520Q|CACNA1D_uc011bes.2_Non-coding_Transcript	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1853					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GGAATGCTACGAGGATGACAG	0.617													84	169					0	0	1	0	0	C	53837571	G	C	53837571	3	2	103	1	0	0	0	0	1	0	0	0	2541	1059	37	5	5903	5	CACNA1D	3	53837571	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	1240266	53837571	144184859	12	4599											
HLTF	6596	broad.mit.edu	37	chr3	148792096	148792096	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaaaaagtcatatgcagAggcatggtaaaagcattgtt	15	9	9	8	0	1	1	1	0	0	1	1	1	1	1	2	2	2	5	2	2	5	4			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr3:148792096A>C	uc003ewq.1	-	3	653	c.435T>G	c.(433-435)ccT>ccG	p.P145P	HLTF_uc003ewr.1_Silent_p.P145P|HLTF_uc003ews.1_Silent_p.P145P|HLTF_uc010hve.1_Silent_p.P145P	NM_139048	NP_620636	Q14527	HLTF_HUMAN	Homo sapiens helicase-like transcription factor (HLTF), transcript variant 2, mRNA.	145					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TCATATGCAGAGGCATGGTAA	0.363													31	21					0	0	1	0	0	C	148792096	A	C	148792096	2	2	103	1	0	0	0	0	0	0	0	1	7215	291	11	5		5	HLTF	3	148792096	Silent	SNP	A	TCGA-DU-8158-01A-11D-2253-08	94954525	148792096	49230334	13	4600											
SLITRK3	22865	broad.mit.edu	37	chr3	164906713	164906713	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ataaggtgatgcactggttgGtgccccaataaggtgagaat	12	10	13	6	0	0	2	0	2	0	1	0	3	0	2	2	4	2	2	2	4	4	3			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr3:164906713G>T	uc003fej.4	-	1	2350	c.1906C>A	c.(1906-1908)Cca>Aca	p.P636T	SLITRK3_uc003fek.3_Missense_Mutation_p.P636T|SLITRK3_uc021xgy.1_Missense_Mutation_p.P636T	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	636						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GCACTGGTTGGTGCCCCAATA	0.527										HNSCC(40;0.11)			11	31					3.07112e-06	3.31879e-06	1	1	0	T	164906713	G	T	164906713	3	4	103	1	0	0	0	0	1	0	0	0	14744	1261	44	5	1031	5	SLITRK3	3	164906713	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	16114617	164906713	33115717	14	4601											
DGKG	1608	broad.mit.edu	37	chr3	185997721	185997721	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtagagacacaaagccGtcccggtcgtagtccatccc	9	8	9	15	3	0	1	0	0	0	1	5	2	4	1	5	1	1	2	5	1	3	2	rs61752079	byFrequency	TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr3:185997721G>A	uc003fqa.3	-	8	1248	c.711C>T	c.(709-711)gaC>gaT	p.D237D	DGKG_uc003fqb.3_Silent_p.D237D|DGKG_uc003fqc.3_Silent_p.D237D|DGKG_uc011brx.2_Silent_p.D237D	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	237	EF-hand 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	ACACAAAGCCGTCCCGGTCGT	0.502													4	244					0	0	1	0	0	A	185997721	G	A	185997721	2	1	103	1	0	0	0	0	0	0	0	1	4469	1136	40	1		1	DGKG	3	185997721	Silent	SNP	G	TCGA-DU-8158-01A-11D-2253-08	21091008	185997721	12024709	15	4602											
CRIPAK	285464	broad.mit.edu	37	chr4	1388467	1388468	+	Frame_Shift_Del	DEL	CA	CA	-																															atgtggagtgcccgcctgctCacacgtgcccatgtggagtg																										TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr4:1388467_1388468delCA	uc003gdf.2	+	0	3128_3129	c.168_169delCA	c.(166-171)ctcacafs	p.L56fs		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	Homo sapiens cysteine-rich PAK1 inhibitor (CRIPAK), mRNA.	56					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCCGCCTGCTCACACGTGCCCA	0.644													8	1081	---	---	---	---						-	1388468	CA	-	1388467	7	5	103	1	0	1	0	1	0	0	0	0	3877	813	29	0	170	0	CRIPAK	4	1388467	Frame_Shift_Del	DEL	CA	TCGA-DU-8158-01A-11D-2253-08		1388467	189765809	16	4603											
DMGDH	29958	broad.mit.edu	37	chr5	78359457	78359457	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgccaggtagatccagcCgtgagctctgatttctccag	7	10	12	12	2	2	3	0	2	2	1	4	3	3	3	4	1	3	2	4	1	1	2			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr5:78359457C>A	uc003kfs.3	-	1	261	c.255G>T	c.(253-255)acG>acT	p.T85T	DMGDH_uc011ctf.1_Missense_Mutation_p.G41C|DMGDH_uc011ctg.1_Missense_Mutation_p.R11L	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	85					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TAGATCCAGCCGTGAGCTCTG	0.502													3	100					1	1	1	1	0	A	78359457	C	A	78359457	2	1	103	1	0	0	0	0	0	0	0	1	4581	639	23	5		5	DMGDH	5	78359457	Silent	SNP	C	TCGA-DU-8158-01A-11D-2253-08		78359457	102555803	17	4604											
GABRA1	2554	broad.mit.edu	37	chr5	161324195	161324195	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagctacacccctaatttgGccaggggcgacccgggctta	8	7	11	15	2	0	0	0	0	0	0	0	1	0	0	5	4	2	2	5	4	3	4			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr5:161324195G>C	uc010jiw.3	+	10	1606	c.1138G>C	c.(1138-1140)Gcc>Ccc	p.A380P	GABRA1_uc010jix.3_Missense_Mutation_p.A380P|GABRA1_uc010jiy.3_Missense_Mutation_p.A380P|GABRA1_uc003lyx.4_Missense_Mutation_p.A380P|GABRA1_uc010jiz.3_Missense_Mutation_p.A380P|GABRA1_uc010jja.3_Missense_Mutation_p.A380P|GABRA1_uc010jjb.3_Missense_Mutation_p.A380P	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	380					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CCCTAATTTGGCCAGGGGCGA	0.458													36	118					0	0	1	0	0	C	161324195	G	C	161324195	3	2	103	1	0	0	0	0	1	0	0	0	6160	1203	42	5	1172	5	GABRA1	5	161324195	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	82964738	161324195	19591065	18	4605											
TMEM217	221468	broad.mit.edu	37	chr6	37186714	37186714	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctaggtgcttctgttcaaaGatgagatacatgtctacggc	10	12	10	9	1	3	2	1	1	2	2	3	3	3	2	1	2	3	2	1	2	4	5			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr6:37186714G>C	uc003onl.3	-	1	174	c.93C>G	c.(91-93)atC>atG	p.I31M	TMEM217_uc010jwr.3_Missense_Mutation_p.I31M|TMEM217_uc010jws.3_Intron|TMEM217_uc003onm.4_Missense_Mutation_p.I31M	NM_145316	NP_660359	Q8N7C4	TM217_HUMAN	Homo sapiens transmembrane protein 217 (TMEM217), transcript variant 1, mRNA.	31						integral to membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						TCTGTTCAAAGATGAGATACA	0.478													3	158					0	0	1	0	0	C	37186714	G	C	37186714	3	2	103	1	0	0	0	0	1	0	0	0	16137	932	33	5	608	5	TMEM217	6	37186714	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08		37186714	133928353	19	4606											
PGM3	5238	broad.mit.edu	37	chr6	83884095	83884095	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccccatcagttctgacctGgttaaacaagtcaataatgt	12	12	7	10	0	3	1	2	1	1	0	3	1	3	1	3	1	2	2	3	1	5	3			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr6:83884095G>T	uc011dyz.2	-	10	1493	c.1324C>A	c.(1324-1326)Cag>Aag	p.Q442K	PGM3_uc003pju.2_Missense_Mutation_p.Q414K|PGM3_uc003pjw.3_Missense_Mutation_p.Q333K|PGM3_uc021zcd.1_Missense_Mutation_p.Q414K	NM_001199917	NP_001186846	O95394	AGM1_HUMAN	Homo sapiens phosphoglucomutase 3 (PGM3), transcript variant 1, mRNA.	414					UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		GTTCTGACCTGGTTAAACAAG	0.383													3	7					1	1	1	1	0	T	83884095	G	T	83884095	3	4	103	1	0	0	0	0	1	0	0	0	11800	1357	47	5	404	5	PGM3	6	83884095	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	46697381	83884095	87230972	20	4607											
DNAH11	8701	broad.mit.edu	37	chr7	21640450	21640450	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgagtttatgaagcattttCtcttgtatggccatgctgtg	7	17	10	7	0	1	2	0	2	1	0	2	2	1	2	1	1	2	4	1	1	3	6			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr7:21640450C>T	uc003svc.3	+	15	3188	c.3157C>T	c.(3157-3159)Ctc>Ttc	p.L1053F		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1053	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAAGCATTTTCTCTTGTATGG	0.438									Kartagener syndrome				50	135					0	0	1	0	0	T	21640450	C	T	21640450	3	4	103	1	0	0	0	0	1	0	0	0	4599	913	32	3	3219	3	DNAH11	7	21640450	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08		21640450	137498213	21	4608											
EGFR	1956	broad.mit.edu	37	chr7	55211008	55211008	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcttagaccatccaggAggtggctggttatgtcctca	7	13	10	11	0	3	1	1	0	2	1	5	2	5	2	3	4	0	2	3	4	2	3			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr7:55211008A>T	uc003tqk.3	+	2	497	c.251A>T	c.(250-252)gAg>gTg	p.E84V	EGFR_uc003tqh.3_Missense_Mutation_p.E84V|EGFR_uc003tqi.3_Missense_Mutation_p.E84V|EGFR_uc003tqj.3_Missense_Mutation_p.E84V|EGFR_uc022adm.1_Missense_Mutation_p.E84V|EGFR_uc010kzg.2_Missense_Mutation_p.E84V|EGFR_uc022adn.1_Missense_Mutation_p.E84V|EGFR_uc011kco.2_Missense_Mutation_p.E31V	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	84					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ACCATCCAGGAGGTGGCTGGT	0.448		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			23	65					0	0	1	0	0	T	55211008	A	T	55211008	3	4	103	1	0	0	0	0	1	0	0	0	4967	304	11	5	261	5	EGFR	7	55211008	Missense_Mutation	SNP	A	TCGA-DU-8158-01A-11D-2253-08	33570558	55211008	103927655	22	4609											
SEMA3E	9723	broad.mit.edu	37	chr7	83119551	83119551	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagatcaagaaatccaaaaGggctatgaaatattgatgtt	17	10	10	4	0	1	4	1	2	0	2	2	5	2	4	1	2	0	2	1	2	7	4			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr7:83119551G>T	uc003uhy.2	-	1	776	c.155C>A	c.(154-156)cCt>cAt	p.P52H	SEMA3E_uc022agy.1_5'UTR	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	52	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AAATCCAAAAGGGCTATGAAA	0.413													18	47					3.51602e-12	4.06161e-12	1	1	0	T	83119551	G	T	83119551	3	4	103	1	0	0	0	0	1	0	0	0	14028	1000	35	5	2236	5	SEMA3E	7	83119551	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	27908543	83119551	76019112	23	4610											
RNF19A	25897	broad.mit.edu	37	chr8	101287238	101287238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaacgtatagttctcaaacGtaagctctgggctctctctt	10	13	8	10	2	4	1	1	0	4	1	6	1	4	1	0	1	3	5	0	1	5	5			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr8:101287238G>A	uc003yjj.1	-	3	1143	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	RNF19A_uc003yjk.1_Missense_Mutation_p.R276C	NM_015435	NP_904355	Q9NV58	RN19A_HUMAN	Homo sapiens ring finger protein 19A (RNF19A), transcript variant 2, mRNA.	276					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			GTTCTCAAACGTAAGCTCTGG	0.418													24	61					0	0	1	0	0	A	101287238	G	A	101287238	3	1	103	1	0	0	0	0	1	0	0	0	13470	1145	40	1	1722	1	RNF19A	8	101287238	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08		101287238	45076784	24	4611											
SLC45A4	57210	broad.mit.edu	37	chr8	142231748	142231748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggcgaggatgaagggccGccggcggccccagctcaggg	7	2	20	12	4	1	1	1	1	0	0	1	4	1	2	4	6	1	1	4	6	1	0			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr8:142231748G>A	uc003ywd.1	-	1	513	c.205C>T	c.(205-207)Cgg>Tgg	p.R69W	SLC45A4_uc003ywc.1_Missense_Mutation_p.R69W|SLC45A4_uc010meq.1_Missense_Mutation_p.R67W	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	120					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			ATGAAGGGCCGCCGGCGGCCC	0.617													6	75					0	0	1	0	0	A	142231748	G	A	142231748	3	1	103	1	0	0	0	0	1	0	0	0	14643	1086	38	1	2219	1	SLC45A4	8	142231748	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	40944510	142231748	4132274	25	4612											
EPPK1	83481	broad.mit.edu	37	chr8	144945911	144945911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagggacacgggccggcccCggaacttccccacagagacg	10	2	14	15	4	0	2	0	0	0	2	1	5	1	4	5	4	1	0	5	4	1	1			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr8:144945911C>T	uc003zaa.1	-	0	1524	c.1511G>A	c.(1510-1512)cGg>cAg	p.R504Q		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	504						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGCCGGCCCCGGAACTTCCC	0.677													8	15					0	0	1	0	0	T	144945911	C	T	144945911	3	4	103	1	0	0	0	0	1	0	0	0	5190	652	23	2	5755	2	EPPK1	8	144945911	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08	2714163	144945911	1418111	26	4613											
APBA1	320	broad.mit.edu	37	chr9	72131516	72131516	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgtgcgtccagctcgggcGcgtcccctatctcctcgtac	3	9	11	18	7	1	0	0	0	1	0	6	0	3	0	4	1	3	2	4	1	2	2			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr9:72131516G>T	uc004ahh.2	-	1	887	c.611C>A	c.(610-612)gCg>gAg	p.A204E		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	204					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CAGCTCGGGCGCGTCCCCTAT	0.721													12	12					7.93312e-07	8.71343e-07	1	1	0	T	72131516	G	T	72131516	3	4	103	1	0	0	0	0	1	0	0	0	756	1087	38	5	1950	5	APBA1	9	72131516	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08		72131516	69081915	27	4614											
COL15A1	1306	broad.mit.edu	37	chr9	101778341	101778341	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaagagtccggcagcccTccccctgatgggccaccgct	6	6	13	16	2	0	3	0	2	0	1	2	3	2	3	6	3	1	2	6	3	1	0			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr9:101778341T>C	uc004azb.1	+	10	1793	c.1587T>C	c.(1585-1587)ccT>ccC	p.P529P		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	529	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCGGCAGCCCTCCCCCTGATG	0.572													3	60					0	0	1	0	0	C	101778341	T	C	101778341	2	2	103	1	0	0	0	0	0	0	0	1	3672	1538	54	4		4	COL15A1	9	101778341	Silent	SNP	T	TCGA-DU-8158-01A-11D-2253-08	29646825	101778341	39435090	28	4615											
CACNA1B	774	broad.mit.edu	37	chr9	140938299	140938299	+	Frame_Shift_Del	DEL	C	C	-																															gatgacgtgatgaggagcggCccccggcctatcgtcccata																										TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr9:140938299delC	uc004cog.3	+	20	3505	c.3360delC	c.(3358-3360)ggcfs	p.G1120fs	CACNA1B_uc022bqn.1_Frame_Shift_Del_p.G1120fs|CACNA1B_uc011mfd.2_Frame_Shift_Del_p.G721fs|CACNA1B_uc004coi.3_Frame_Shift_Del_p.G330fs	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1120					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGAGGAGCGGCCCCCGGCCTA	0.597													7	408	---	---	---	---						-	140938299	C	-	140938299	7	5	103	1	0	1	0	1	0	0	0	0	2539	726	26	0	3442	0	CACNA1B	9	140938299	Frame_Shift_Del	DEL	C	TCGA-DU-8158-01A-11D-2253-08	39159958	140938299	275132	29	4616											
ARMC3	219681	broad.mit.edu	37	chr10	23292319	23292319	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatcaagtaacataattaaCgatggattctatgattatgg	15	14	7	5	1	3	1	2	1	1	0	3	3	3	2	0	2	2	1	0	2	6	6			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr10:23292319C>T	uc001irm.4	+	12	1790	c.1707C>T	c.(1705-1707)aaC>aaT	p.N569N	ARMC3_uc010qcv.2_Silent_p.N569N|ARMC3_uc010qcw.2_Silent_p.N306N	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	569							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACATAATTAACGATGGATTCT	0.323													42	51					0	0	1	0	0	T	23292319	C	T	23292319	2	4	103	1	0	0	0	0	0	0	0	1	952	535	19	1		1	ARMC3	10	23292319	Silent	SNP	C	TCGA-DU-8158-01A-11D-2253-08		23292319	112242428	30	4617											
PTEN	5728	broad.mit.edu	37	chr10	89717715	89717716	+	Frame_Shift_Ins	INS	-	-	A																															tttgagttccctcagccgttINSacctgtgtgtggtgatatca																										TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr10:89717715_89717716insA	uc001kfb.3	+	6	1772_1773	c.740_741insA	c.(739-741)ttafs	p.L247fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	247	C2 tensin-type.				T cell receptor signaling pathway|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 G1/S transition of mitotic cell cycle|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 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	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion 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.0?(37)|p.P248fs*5(13)|p.P246L(8)|p.R55fs*1(5)|p.L247*(5)|p.P246fs*10(3)|p.P246fs*3(2)|p.L247F(2)|p.P246fs*11(2)|p.L247fs*10(2)|p.N212fs*1(2)|p.L247fs*6(2)|p.L247fs*4(2)|p.L247fs*5(2)|p.Y27fs*1(2)|p.P246fs*9(1)|p.P246fs*14(1)|p.P246fs*12(1)|p.L247L(1)|p.L247fs*11(1)|p.L247fs*12(1)|p.?(1)|p.P246_L247insGP(1)|p.G165_K342del(1)|p.L247fs*8(1)|p.G165_*404del(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)		CCTCAGCCGTTACCTGTGTGTG	0.406		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)			48	53	---	---	---	---						A	89717716	-	A	89717715	7	5	103	1	0	1	1	0	0	0	0	0	12738	1764	61	0	766	0	PTEN	10	89717715	Frame_Shift_Ins	INS	-	TCGA-DU-8158-01A-11D-2253-08	66425396	89717715	45817032	31	4618											
ATG16L2	89849	broad.mit.edu	37	chr11	72528829	72528829	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagcttgactcagaccaaGtcccatcactggtcgcactg	10	8	9	14	1	2	3	2	1	0	2	4	3	3	3	2	1	1	2	2	1	1	1			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr11:72528829G>C	uc001otd.3	+	2	287	c.247G>C	c.(247-249)Gtc>Ctc	p.V83L	ATG16L2_uc001otc.1_Missense_Mutation_p.V83L|ATG16L2_uc010rrf.1_Missense_Mutation_p.V83L|ATG16L2_uc001ote.3_5'UTR|ATG16L2_uc009ytj.2_Missense_Mutation_p.V83L	NM_033388	NP_203746	Q8NAA4	A16L2_HUMAN	Homo sapiens ATG16 autophagy related 16-like 2 (S. cerevisiae) (ATG16L2), mRNA.	83					autophagy|protein transport	cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			CTCAGACCAAGTCCCATCACT	0.587													12	27					0	0	1	0	0	C	72528829	G	C	72528829	3	2	103	1	0	0	0	0	1	0	0	0	1092	1029	36	5	257	5	ATG16L2	11	72528829	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08		72528829	62477687	32	4619											
BCL9L	283149	broad.mit.edu	37	chr11	118772576	118772576	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcctctgcatggcattcaTgggcacctccatgggcatac	7	9	12	13	0	2	0	1	0	1	0	3	0	3	0	3	4	2	4	3	4	1	2			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr11:118772576T>C	uc001pug.3	-	5	2841	c.1876A>G	c.(1876-1878)Atg>Gtg	p.M626V	BCL9L_uc009zal.3_Missense_Mutation_p.M621V	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	626					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		ATGGCATTCATGGGCACCTCC	0.622													11	23					0	0	1	0	0	C	118772576	T	C	118772576	3	2	103	1	0	0	0	0	1	0	0	0	1382	1464	51	3	2635	3	BCL9L	11	118772576	Missense_Mutation	SNP	T	TCGA-DU-8158-01A-11D-2253-08	46243747	118772576	16233940	33	4620											
WNK1	65125	broad.mit.edu	37	chr12	994382	994382	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctaccccaggtcctaagcCtccagctgtagtatctcagc	8	10	8	15	0	1	0	1	0	1	0	4	0	3	0	5	1	5	4	5	1	4	4			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr12:994382C>T	uc021qss.1	+	18	5835	c.5192C>T	c.(5191-5193)cCt>cTt	p.P1731L	WNK1_uc001qio.4_Missense_Mutation_p.P1471L|WNK1_uc021qst.1_Missense_Mutation_p.P1723L|WNK1_uc001qip.4_Missense_Mutation_p.P1224L|WNK1_uc001qir.4_Missense_Mutation_p.P644L	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	1471					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GGTCCTAAGCCTCCAGCTGTA	0.507													27	82					0	0	1	0	0	T	994382	C	T	994382	3	4	103	1	0	0	0	0	1	0	0	0	17374	681	24	3	5988	3	WNK1	12	994382	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08		994382	132857513	34	4621											
PSMC6	5706	broad.mit.edu	37	chr14	53175072	53175072	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcagtatgaaaagtctgAaaatgatctgaaggccctac	16	8	9	8	0	2	4	0	4	2	0	2	4	2	4	1	1	2	2	1	1	8	2			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr14:53175072A>G	uc010tqx.2	+	1	173	c.173A>G	c.(172-174)gAa>gGa	p.E58G	PSMC6_uc010tqv.2_Missense_Mutation_p.E58G|PSMC6_uc010tqw.2_Intron	NM_002806	NP_002797	P62333	PRS10_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 6 (PSMC6), mRNA.	44					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					GAAAAGTCTGAAAATGATCTG	0.353													20	18					0	0	1	0	0	G	53175072	A	G	53175072	3	3	103	1	0	0	0	0	1	0	0	0	12691	246	9	3	179	3	PSMC6	14	53175072	Missense_Mutation	SNP	A	TCGA-DU-8158-01A-11D-2253-08		53175072	54174468	35	4622											
COPS2	9318	broad.mit.edu	37	chr15	49447771	49447771	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaaatcatcctccatgtcaGacatcttggccgggaggggg	9	9	13	10	1	3	2	2	1	1	1	5	3	5	3	3	4	0	0	3	4	1	1			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr15:49447771G>C	uc001zxh.3	-	0	84	c.5C>G	c.(4-6)tCt>tGt	p.S2C	GALK2_uc001zxi.1_5'Flank|COPS2_uc001zxf.3_Missense_Mutation_p.S2C|COPS2_uc010ufa.2_Missense_Mutation_p.S2C|LOC100306975_uc021sks.1_5'Flank	NM_001143887	NP_001137359	P61201	CSN2_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis) (COPS2), transcript variant 2, mRNA.	2					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		CTCCATGTCAGACATCTTGGC	0.557													39	40					0	0	1	0	0	C	49447771	G	C	49447771	3	2	103	1	0	0	0	0	1	0	0	0	3733	942	33	5	1399	5	COPS2	15	49447771	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08		49447771	53083621	36	4623											
PDE8A	5151	broad.mit.edu	37	chr15	85610300	85610300	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatggattctgcagggcatGtgaaaaagcagggtttaagt	13	11	13	4	0	1	1	0	1	1	0	1	2	1	2	0	3	2	4	0	3	4	4			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr15:85610300G>A	uc002blh.3	+	2	488	c.299G>A	c.(298-300)tGt>tAt	p.C100Y	PDE8A_uc021stv.1_Missense_Mutation_p.C28Y|PDE8A_uc002bli.3_Missense_Mutation_p.C100Y|PDE8A_uc010bnc.3_5'UTR|PDE8A_uc010bnd.3_5'UTR|PDE8A_uc002blj.3_5'UTR|PDE8A_uc002blk.3_5'UTR	NM_002605	NP_001230066	O60658	PDE8A_HUMAN	Homo sapiens phosphodiesterase 8A (PDE8A), transcript variant 1, mRNA.	100					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			TGCAGGGCATGTGAAAAAGCA	0.383													38	31					0	0	1	0	0	A	85610300	G	A	85610300	3	1	103	1	0	0	0	0	1	0	0	0	11653	1377	48	3	309	3	PDE8A	15	85610300	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	36162529	85610300	16921092	37	4624											
DHX38	9785	broad.mit.edu	37	chr16	72132924	72132924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacacttggggtccacccCgcgtctgtccaggggccgag	7	6	14	14	3	1	1	0	0	1	1	3	2	3	1	5	4	0	0	5	4	1	1	rs148934675		TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr16:72132924C>T	uc002fcb.3	+	5	1218	c.863C>T	c.(862-864)cCg>cTg	p.P288L	DHX38_uc010vmp.2_Intron|DHX38_uc010cgn.1_Non-coding_Transcript	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	288					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GGGTCCACCCCGCGTCTGTCC	0.617													16	29					0	0	1	0	0	T	72132924	C	T	72132924	3	4	103	1	0	0	0	0	1	0	0	0	4511	652	23	2	881	2	DHX38	16	72132924	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08		72132924	18221829	38	4625											
ZFHX3	463	broad.mit.edu	37	chr16	72993684	72993684	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccacgtcactctcctcgtCcccctcctcaccggtgtcgc	3	10	6	22	4	3	0	2	0	1	0	9	0	6	0	6	1	0	0	6	1	0	0			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr16:72993684C>A	uc002fck.3	-	1	1034	c.361G>T	c.(361-363)Gac>Tac	p.D121Y	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	121					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTCTCCTCGTCCCCCTCCTCA	0.687													18	93					7.41877e-09	8.2843e-09	1	1	0	A	72993684	C	A	72993684	3	1	103	1	0	0	0	0	1	0	0	0	17631	855	30	5	10786	5	ZFHX3	16	72993684	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08	860760	72993684	17361069	39	4626											
PLCG2	5336	broad.mit.edu	37	chr16	81953235	81953235	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagatgagactgcgctaccCcgtgacccccgagctcctgg	9	6	11	15	3	0	3	0	2	0	2	1	5	1	3	5	1	3	2	5	1	2	1			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr16:81953235C>A	uc002fgt.3	+	19	2379	c.2201C>A	c.(2200-2202)cCc>cAc	p.P734H	PLCG2_uc010chg.1_Missense_Mutation_p.P734H	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	734	SH2 2.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CTGCGCTACCCCGTGACCCCC	0.517													23	57					6.38683e-12	7.25284e-12	1	1	0	A	81953235	C	A	81953235	3	1	103	1	0	0	0	0	1	0	0	0	12036	623	22	5	2275	5	PLCG2	16	81953235	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08	8959551	81953235	8401518	40	4627											
FLOT2	2319	broad.mit.edu	37	chr17	27207756	27207756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acaggtccacgcctgtgaggGcatgcacagaggcaggcagc	10	4	15	12	1	0	2	0	1	0	1	1	2	1	2	2	4	2	4	2	4	0	0			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr17:27207756G>A	uc002hdc.3	-	9	1346	c.1223C>T	c.(1222-1224)gCc>gTc	p.A408V		NM_004475	NP_004466	Q14254	FLOT2_HUMAN	Homo sapiens flotillin 2 (FLOT2), mRNA.	408					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GCCTGTGAGGGCATGCACAGA	0.597													5	138					0	0	1	0	0	A	27207756	G	A	27207756	3	1	103	1	0	0	0	0	1	0	0	0	5937	1203	42	3	71	3	FLOT2	17	27207756	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08		27207756	53987454	41	4628											
KIF19	124602	broad.mit.edu	37	chr17	72343952	72343952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagccgcacagtgatgatcGctcacatcagtcctgcgagc	10	7	10	14	3	2	2	2	2	0	0	4	3	3	2	2	0	3	2	2	0	0	0			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr17:72343952G>A	uc002jkm.4	+	8	1099	c.961G>A	c.(961-963)Gct>Act	p.A321T	KIF19_uc002jkj.2_Missense_Mutation_p.A321T|KIF19_uc002jkk.2_Missense_Mutation_p.A279T|KIF19_uc002jkl.2_Missense_Mutation_p.A279T	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	321					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AGTGATGATCGCTCACATCAG	0.627													3	8					0	0	1	0	0	A	72343952	G	A	72343952	3	1	103	1	0	0	0	0	1	0	0	0	8282	1087	38	1	995	1	KIF19	17	72343952	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	45136196	72343952	8851258	42	4629											
ZNF557	79230	broad.mit.edu	37	chr19	7083553	7083553	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taccaatagcttttctcttaCaattcacaggagaatacata	15	13	4	9	0	2	1	1	0	1	1	3	2	2	1	1	1	4	1	1	1	8	8			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr19:7083553C>G	uc002mga.3	+	7	1576	c.1091C>G	c.(1090-1092)aCa>aGa	p.T364R	ZNF557_uc002mgb.3_Missense_Mutation_p.T357R|ZNF557_uc002mgc.3_Missense_Mutation_p.T364R	NM_024341	NP_077317	Q8N988	ZN557_HUMAN	Homo sapiens zinc finger protein 557 (ZNF557), transcript variant 1, mRNA.	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T364A(1)		endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		TTTTCTCTTACAATTCACAGG	0.383													4	47					0	0	1	0	0	G	7083553	C	G	7083553	3	3	103	1	0	0	0	0	1	0	0	0	17985	478	17	5	1113	5	ZNF557	19	7083553	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08		7083553	52045430	43	4630											
HSPA13	6782	broad.mit.edu	37	chr21	15748040	15748040	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacatctagagttcctccGcccaagtctatcaccaagac	12	8	6	15	1	3	2	1	0	2	2	5	3	5	2	4	0	0	1	4	0	4	3			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr21:15748040G>A	uc002yjt.3	-	3	750	c.681C>T	c.(679-681)ggC>ggT	p.G227G	HSPA13_uc011abx.2_Silent_p.G19G	NM_006948	NP_008879	P48723	HSP13_HUMAN	Homo sapiens heat shock protein 70kDa family, member 13 (HSPA13), mRNA.	227						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GAGTTCCTCCGCCCAAGTCTA	0.483													32	97					0	0	1	0	0	A	15748040	G	A	15748040	2	1	103	1	0	0	0	0	0	0	0	1	7406	1074	38	1		1	HSPA13	21	15748040	Silent	SNP	G	TCGA-DU-8158-01A-11D-2253-08		15748040	32381855	44	4631											
BACH1	571	broad.mit.edu	37	chr21	30699512	30699513	+	Frame_Shift_Del	DEL	TA	TA	-																															tcaaaggactttcacaacatTaagttctgtcaactgccctt																								rs145991657		TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr21:30699512_30699513delTA	uc002ynk.3	+	2	1610_1611	c.1367_1368delTA	c.(1366-1368)ttafs	p.L456fs	BACH1_uc002ynj.3_Frame_Shift_Del_p.L456fs|BACH1_uc002ynl.2_Non-coding_Transcript	NM_206866	NP_996749	O14867	BACH1_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 1 (BACH1), transcript variant 1, mRNA.	456						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TTCACAACATTAAGTTCTGTCA	0.436													29	53	---	---	---	---						-	30699513	TA	-	30699512	7	5	103	1	0	1	0	1	0	0	0	0	1283	1764	61	0	1373	0	BACH1	21	30699512	Frame_Shift_Del	DEL	TA	TCGA-DU-8158-01A-11D-2253-08	14951472	30699512	17430383	45	4632											
BCR	613	broad.mit.edu	37	chr22	23631729	23631729	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagcttctccctgacatcCgtggagctgcagatgctgac	9	9	11	12	1	1	4	0	2	1	2	3	5	2	5	2	1	4	4	2	1	1	1			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr22:23631729C>G	uc002zww.3	+	12	3224	c.2628C>G	c.(2626-2628)tcC>tcG	p.S876S	BCR_uc002zwx.3_Silent_p.S876S|BCR_uc011aiy.2_Silent_p.S465S|BCR_uc002zwy.2_Silent_p.S162S	NM_004327	NP_004318	P11274	BCR_HUMAN	Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA.	876	C2.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CCCTGACATCCGTGGAGCTGC	0.572			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"								19	26					0	0	1	0	0	G	23631729	C	G	23631729	2	3	103	1	0	0	0	0	0	0	0	1	1388	639	23	5		5	BCR	22	23631729	Silent	SNP	C	TCGA-DU-8158-01A-11D-2253-08		23631729	27672837	46	4633											
APOO	79135	broad.mit.edu	37	chrX	23899066	23899066	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggccccacggacctctgaaTtacctgaaatgcagaagcaa	13	7	9	12	1	1	3	0	2	1	1	1	4	1	4	4	2	3	2	4	2	5	1			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chrX:23899066T>A	uc004dax.3	-	1	251	c.13A>T	c.(13-15)Att>Ttt	p.I5F	APOO_uc004day.4_Non-coding_Transcript	NM_024122	NP_077027	Q9BUR5	APOO_HUMAN	Homo sapiens apolipoprotein O (APOO), transcript variant 1, mRNA.	5					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						GACCTCTGAATTACCTGAAAT	0.478													29	37					0	0	1	0	0	A	23899066	T	A	23899066	3	1	103	1	0	0	0	0	1	0	0	0	813	1493	52	5	611	5	APOO	23	23899066	Missense_Mutation	SNP	T	TCGA-DU-8158-01A-11D-2253-08		23899066	131371494	47	4634											
ZXDB	158586	broad.mit.edu	37	chrX	57620231	57620231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctcttagctcagctagaaGcagcaaattctctcacaccc	12	10	5	14	0	4	1	2	0	2	1	6	1	4	1	1	0	4	4	1	0	4	3			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chrX:57620231G>A	uc004dvd.3	+	0	1963	c.1750G>A	c.(1750-1752)Gca>Aca	p.A584T		NM_007157	NP_009088	P98169	ZXDB_HUMAN	Homo sapiens zinc finger, X-linked, duplicated B (ZXDB), mRNA.	584	Required for transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						TCAGCTAGAAGCAGCAAATTC	0.463													10	192					0	0	1	0	0	A	57620231	G	A	57620231	3	1	103	1	0	0	0	0	1	0	0	0	18248	971	34	3	1752	3	ZXDB	23	57620231	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	33721165	57620231	97650329	48	4635											
LUZP4	51213	broad.mit.edu	37	chrX	114541268	114541268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtcactcagagagatctcGtggccactgagagagatctc	11	9	11	10	1	4	4	2	1	2	4	6	7	4	4	1	1	0	0	1	1	1	1			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chrX:114541268G>A	uc004eqa.3	+	3	875	c.841G>A	c.(841-843)Gtg>Atg	p.V281M	LUZP4_uc004eqb.3_Missense_Mutation_p.V199M	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN	Homo sapiens leucine zipper protein 4 (LUZP4), mRNA.	281						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						GAGAGATCTCGTGGCCACTGA	0.428													21	105					0	0	1	0	0	A	114541268	G	A	114541268	3	1	103	1	0	0	0	0	1	0	0	0	9088	1145	40	1	855	1	LUZP4	23	114541268	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	56921037	114541268	40729292	49	4636											
DCAF12L1	139170	broad.mit.edu	37	chrX	125686452	125686452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcgccatcgagcgatacGtcgccggccgcctctgcctc	5	7	12	17	7	1	0	0	0	1	0	4	2	1	0	5	1	4	0	5	1	1	1			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chrX:125686452G>A	uc022cds.1	-	0	140	c.140C>T	c.(139-141)aCg>aTg	p.T47M	DCAF12L1_uc004eul.3_Missense_Mutation_p.T47M	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	47								p.T47M(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CGAGCGATACGTCGCCGGCCG	0.721													21	51					0	0	1	0	0	A	125686452	G	A	125686452	3	1	103	1	0	0	0	0	1	0	0	0	4264	1145	40	1	1255	1	DCAF12L1	23	125686452	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	11145184	125686452	29584108	50	4637											
DDX26B	203522	broad.mit.edu	37	chrX	134711345	134711345	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcataaaacccacccttgtAcatacaggtatagagtagtg	14	10	7	10	0	1	1	1	0	0	1	1	1	1	1	2	1	3	3	2	1	7	7			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chrX:134711345A>G	uc004eyw.4	+	13	2364	c.2001A>G	c.(1999-2001)gtA>gtG	p.V667V	DDX26B_uc004eyx.4_Silent_p.V268V	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.	667										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CCACCCTTGTACATACAGGTA	0.443													3	80					0	0	1	0	0	G	134711345	A	G	134711345	2	3	103	1	0	0	0	0	0	0	0	1	4353	378	14	3		3	DDX26B	23	134711345	Silent	SNP	A	TCGA-DU-8158-01A-11D-2253-08	9024893	134711345	20559215	51	4638											
PRAMEF12	390999	broad.mit.edu	37	chr1	12837725	12837725	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctgttgaatgcctgctgtCagggtggatttatttaaagc	8	15	12	6	0	2	1	1	1	1	0	2	2	2	2	1	2	3	2	1	2	4	5			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:12837725C>T	uc001aui.3	+	2	1462	c.1435C>T	c.(1435-1437)Cag>Tag	p.Q479*		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	479										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|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;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCTGCTGTCAGGGTGGATT	0.507													21	51					0	0	1	0	0	T	12837725	C	T	12837725	4	4	104	1	0	0	0	0	0	1	0	0	12428	827	29	3	1445	3	PRAMEF12	1	12837725	Nonsense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08		12837725	236412896	1	4639											
CLCNKA	1187	broad.mit.edu	37	chr1	16372121	16372121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtacttcctgatgaccctcGgggtgctcatggccctggtc	4	11	13	13	1	1	2	1	2	0	0	4	2	2	2	3	5	2	2	3	5	1	2			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:16372121G>A	uc001axx.4	+	2	305	c.169G>A	c.(169-171)Ggg>Agg	p.G57R	CLCNKA_uc021ogl.1_Intron	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	57					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GATGACCCTCGGGGTGCTCAT	0.637													17	75					0	0	1	0	0	A	16372121	G	A	16372121	3	1	104	1	0	0	0	0	1	0	0	0	3469	1116	39	2		2	CLCNKA	1	16372121	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08	3534396	16372121	232878500	2	4640											
ATP1A2	477	broad.mit.edu	37	chr1	160093068	160093069	+	Frame_Shift_Ins	INS	-	-	C																															ccaacgccctcacaccacctINScccacaacccctgagtgggt																										TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:160093068_160093069insC	uc001fvc.3	+	3	375_376	c.243_244insC	c.(241-246)cctcccfs	p.P81fs	ATP1A2_uc001fvb.2_Frame_Shift_Ins_p.P81fs|ATP1A2_uc010piz.1_5'Flank	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	81	Interaction with phosphoinositide-3 kinase (By similarity).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCACACCACCTCCCACAACCCC	0.629													60	238	---	---	---	---						C	160093069	-	C	160093068	7	5	104	1	0	1	1	0	0	0	0	0	1129	1538	54	0	257	0	ATP1A2	1	160093068	Frame_Shift_Ins	INS	-	TCGA-DU-8161-01A-11D-2253-08	143720947	160093068	89157553	3	4641											
ITLN1	55600	broad.mit.edu	37	chr1	160849160	160849160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaggcgttggctgctctctCgttattaaataccctgaact	9	13	8	11	2	1	1	0	1	1	0	3	1	1	1	1	2	3	4	1	2	6	4			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:160849160C>T	uc001fxc.3	-	6	846	c.730G>A	c.(730-732)Gag>Aag	p.E244K		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	Homo sapiens intelectin 1 (galactofuranose binding) (ITLN1), mRNA.	244	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCTGCTCTCTCGTTATTAAAT	0.488													27	86					0	0	1	0	0	T	160849160	C	T	160849160	3	4	104	1	0	0	0	0	1	0	0	0	7910	893	31	2	219	2	ITLN1	1	160849160	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08	756092	160849160	88401461	4	4642											
ASTN1	460	broad.mit.edu	37	chr1	176838145	176838145	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtagccattgaagagattgTagatcttgtctgctatttct	9	17	9	6	0	3	3	0	1	3	2	3	4	3	3	1	0	2	3	1	0	4	7			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:176838145T>C	uc001glc.3	-	21	3694	c.3482A>G	c.(3481-3483)tAc>tGc	p.Y1161C	ASTN1_uc001glb.1_Missense_Mutation_p.Y1161C|ASTN1_uc001gld.1_Missense_Mutation_p.Y1161C	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	1169					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAAGAGATTGTAGATCTTGTC	0.403													24	70					0	0	1	0	0	C	176838145	T	C	176838145	3	2	104	1	0	0	0	0	1	0	0	0	1064	1638	57	3	414	3	ASTN1	1	176838145	Missense_Mutation	SNP	T	TCGA-DU-8161-01A-11D-2253-08	15988985	176838145	72412476	5	4643											
PTPRC	5788	broad.mit.edu	37	chr1	198703516	198703516	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgggaacagaaagccacaGttattgtcatggtcactcga	12	11	10	8	1	2	1	2	0	0	1	3	3	2	2	1	2	2	1	1	2	3	3			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:198703516G>C	uc001gur.1	+	21	2413	c.2233G>C	c.(2233-2235)Gtt>Ctt	p.V745L	PTPRC_uc001gut.1_Missense_Mutation_p.V584L|PTPRC_uc021pgy.1_Missense_Mutation_p.V699L|PTPRC_uc010ppg.1_Missense_Mutation_p.V681L	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	745	Tyrosine-protein phosphatase 1.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GAAAGCCACAGTTATTGTCAT	0.408													91	299					0	0	1	0	0	C	198703516	G	C	198703516	3	2	104	1	0	0	0	0	1	0	0	0	12797	1029	36	5	2326	5	PTPRC	1	198703516	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08	21865371	198703516	50547105	6	4644											
IL20	50604	broad.mit.edu	37	chr1	207039239	207039239	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagccttctctctgctgcGttttatctcctatggactcc	4	17	6	14	1	4	0	1	0	3	0	7	1	5	1	3	1	3	2	3	1	2	5			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:207039239G>A	uc001her.3	+	0	86	c.42G>A	c.(40-42)gcG>gcA	p.A14A	IL20_uc009xby.3_Silent_p.A14A	NM_018724	NP_061194	Q9NYY1	IL20_HUMAN	Homo sapiens interleukin 20 (IL20), mRNA.	14					positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding	p.A14V(1)		endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		TCTCTGCTGCGTTTTATCTCC	0.458													17	59					0	0	1	0	0	A	207039239	G	A	207039239	2	1	104	1	0	0	0	0	0	0	0	1	7667	1132	40	1		1	IL20	1	207039239	Silent	SNP	G	TCGA-DU-8161-01A-11D-2253-08	8335723	207039239	42211382	7	4645											
ENAH	55740	broad.mit.edu	37	chr1	225706962	225706962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctttctaactgctcttgtCgctccctttcttgcctctcc	2	17	4	18	1	4	0	0	0	4	0	7	0	5	0	4	0	3	2	4	0	1	5			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:225706962C>T	uc001hpc.1	-	4	1193	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	ENAH_uc021pju.1_Missense_Mutation_p.R234Q|ENAH_uc001hpd.1_Missense_Mutation_p.R247Q	NM_001008493	NP_001008493	Q8N8S7	ENAH_HUMAN	Homo sapiens enabled homolog (Drosophila) (ENAH), transcript variant 1, mRNA.	247					T cell receptor signaling pathway|axon guidance|intracellular transport	cytosol|filopodium|focal adhesion|lamellipodium|synapse	SH3 domain binding|WW domain binding|actin binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		CTGCTCTTGTCGCTCCCTTTC	0.517													107	261					0	0	1	0	0	T	225706962	C	T	225706962	3	4	104	1	0	0	0	0	1	0	0	0	5111	884	31	2	1079	2	ENAH	1	225706962	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08	18667723	225706962	23543659	8	4646											
SLC35F3	148641	broad.mit.edu	37	chr1	234454541	234454541	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgctaagtttggagaagcCgccttatttttgtccatctt	8	16	9	8	1	1	1	0	0	1	1	2	2	2	1	3	1	2	2	3	1	3	6			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:234454541C>T	uc001hvy.1	+	5	1144	c.999C>T	c.(997-999)gcC>gcT	p.A333A	SLC35F3_uc001hwa.1_Silent_p.A264A	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	264					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TTGGAGAAGCCGCCTTATTTT	0.468													5	112					0	0	1	0	0	T	234454541	C	T	234454541	2	4	104	1	0	0	0	0	0	0	0	1	14590	639	23	2		2	SLC35F3	1	234454541	Silent	SNP	C	TCGA-DU-8161-01A-11D-2253-08	8747579	234454541	14796080	9	4647											
XPO1	7514	broad.mit.edu	37	chr2	61719740	61719740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatcgtttttcgtcctcttCatgcattgctccactaatgg	8	16	6	11	2	2	0	1	0	1	0	6	0	4	0	2	1	2	3	2	1	2	5			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr2:61719740C>T	uc010ypn.2	-	14	1657	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	XPO1_uc010fcl.3_Missense_Mutation_p.E506K|XPO1_uc002sbj.3_Missense_Mutation_p.E510K|XPO1_uc002sbk.3_Missense_Mutation_p.E71K|XPO1_uc002sbh.3_Missense_Mutation_p.E157K	NM_003400	NP_003391	O14980	XPO1_HUMAN	Homo sapiens exportin 1 (CRM1 homolog, yeast) (XPO1), mRNA.	510	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mRNA metabolic process|mRNA transport|mitotic prometaphase|viral genome transport in host cell|viral infectious cycle	Cajal body|annulate lamellae|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	RNA binding|protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TCGTCCTCTTCATGCATTGCT	0.348			Mis		CLL								3	57					0	0	1	0	0	T	61719740	C	T	61719740	3	4	104	1	0	0	0	0	1	0	0	0	17442	835	29	3	1735	3	XPO1	2	61719740	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08		61719740	181479633	10	4648											
ADD2	119	broad.mit.edu	37	chr2	70904917	70904917	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcatctccagtacttcctgGgggtcagtatagagaggcac	9	10	11	11	0	3	1	2	0	1	1	5	2	4	1	2	3	1	3	2	3	3	4			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr2:70904917G>C	uc021vjc.1	-	11	1741	c.1476C>G	c.(1474-1476)ccC>ccG	p.P492P	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Silent_p.P492P|ADD2_uc002sgz.3_Silent_p.P492P|ADD2_uc010fdt.2_Silent_p.P492P|ADD2_uc002shc.2_Silent_p.P492P|ADD2_uc010fdu.2_Silent_p.P508P	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	492					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GTACTTCCTGGGGGTCAGTAT	0.522													15	55					0	0	1	0	0	C	70904917	G	C	70904917	2	2	104	1	0	0	0	0	0	0	0	1	305	1246	43	5		5	ADD2	2	70904917	Silent	SNP	G	TCGA-DU-8161-01A-11D-2253-08	9185177	70904917	172294456	11	4649											
SCN1A	6323	broad.mit.edu	37	chr2	166892601	166892601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcactactaaagtcttccGtgtttaaattttcaaagtca	13	16	4	8	1	4	0	3	0	1	0	5	0	5	0	1	0	1	1	1	0	6	8			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr2:166892601G>A	uc002udo.4	-	17	3613	c.3386C>T	c.(3385-3387)aCg>aTg	p.T1129M	SCN1A_uc010fpk.3_Missense_Mutation_p.T1101M|SCN1A_uc021vsb.1_Missense_Mutation_p.T1118M	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1129						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AAAGTCTTCCGTGTTTAAATT	0.343													39	140					0	0	1	0	0	A	166892601	G	A	166892601	3	1	104	1	0	0	0	0	1	0	0	0	13914	1145	40	1	2687	1	SCN1A	2	166892601	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08	95987684	166892601	76306772	12	4650											
HJURP	55355	broad.mit.edu	37	chr2	234750028	234750028	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcgcaggaccccctctgtaCatgttcatggcccaggagtc	7	9	10	15	1	2	0	1	0	1	0	4	2	2	2	3	3	1	3	3	3	1	2			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr2:234750028C>G	uc002vvg.3	-	7	1464	c.1398G>C	c.(1396-1398)atG>atC	p.M466I	HJURP_uc010znd.2_Missense_Mutation_p.M405I|HJURP_uc010zne.2_Missense_Mutation_p.M374I	NM_018410	NP_060880	Q8NCD3	HJURP_HUMAN	Homo sapiens Holliday junction recognition protein (HJURP), mRNA.	466					CenH3-containing nucleosome assembly at centromere|cell cycle|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		CCCCTCTGTACATGTTCATGG	0.532													40	71					0	0	1	0	0	G	234750028	C	G	234750028	3	3	104	1	0	0	0	0	1	0	0	0	7189	478	17	5	856	5	HJURP	2	234750028	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08	67857427	234750028	8449345	13	4651											
FGD5	152273	broad.mit.edu	37	chr3	14939167	14939167	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagctggaggaaaggcTgtcaaattggtgagcagtcc	11	7	17	6	0	1	1	1	1	0	0	2	5	2	5	1	6	2	3	1	6	2	1			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr3:14939167T>C	uc003bzc.3	+	4	3010	c.2900T>C	c.(2899-2901)cTg>cCg	p.L967P	FGD5_uc011avk.2_Missense_Mutation_p.L967P|FGD5_uc003bzd.3_Missense_Mutation_p.L45P	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	967	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GAGGAAAGGCTGTCAAATTGG	0.547													5	14					0	0	1	0	0	C	14939167	T	C	14939167	3	2	104	1	0	0	0	0	1	0	0	0	5836	1580	55	4	2918	4	FGD5	3	14939167	Missense_Mutation	SNP	T	TCGA-DU-8161-01A-11D-2253-08		14939167	183083263	14	4652											
POU1F1	5449	broad.mit.edu	37	chr3	87322565	87322565	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacagaataatgaagtcctGttgctgtgtttcccaacgtt	11	13	9	8	1	0	2	0	1	0	1	2	3	2	2	2	0	3	4	2	0	5	4			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr3:87322565G>T	uc010hoj.1	-	1	349	c.224C>A	c.(223-225)aCa>aAa	p.T75K	POU1F1_uc003dqq.1_Missense_Mutation_p.T49K	NM_001122757	NP_001116229	P28069	PIT1_HUMAN	Homo sapiens POU class 1 homeobox 1 (POU1F1), transcript variant beta, mRNA.	49					negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T75N(1)		central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		ATGAAGTCCTGTTGCTGTGTT	0.383													12	57					4.14922e-12	4.35328e-12	1	1	0	T	87322565	G	T	87322565	3	4	104	1	0	0	0	0	1	0	0	0	12269	1377	48	5	749	5	POU1F1	3	87322565	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08	72383398	87322565	110699865	15	4653											
TLR1	7096	broad.mit.edu	37	chr4	38798156	38798156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttaagttagcccaaaaaaggCcacgtttgctcttttccttg	10	14	7	10	1	1	0	0	0	1	0	2	0	2	0	3	1	2	3	3	1	5	6			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr4:38798156C>T	uc003gtl.3	-	3	2571	c.2297G>A	c.(2296-2298)gGc>gAc	p.G766D	TLR1_uc021xnn.1_Missense_Mutation_p.G766D	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	766	TIR.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane	protein heterodimerization activity|transmembrane receptor activity	p.R765H(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						CCAAAAAAGGCCACGTTTGCT	0.423													13	30					0	0	1	0	0	T	38798156	C	T	38798156	3	4	104	1	0	0	0	0	1	0	0	0	15946	739	26	3	67	3	TLR1	4	38798156	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08		38798156	152356120	16	4654											
TEC	7006	broad.mit.edu	37	chr4	48173432	48173432	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctgctttgtggactaggtGcaaaaatgtaaagtgtgtta	11	13	11	6	0	0	0	0	0	0	0	0	1	0	1	1	2	2	4	1	2	6	4			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr4:48173432G>C	uc003gxz.3	-	3	369	c.278C>G	c.(277-279)gCa>gGa	p.A93G		NM_003215	NP_003206	P42680	TEC_HUMAN	Homo sapiens tec protein tyrosine kinase (TEC), mRNA.	93	PH.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TGGACTAGGTGCAAAAATGTA	0.353													18	67					0	0	1	0	0	C	48173432	G	C	48173432	3	2	104	1	0	0	0	0	1	0	0	0	15739	1319	46	5	1677	5	TEC	4	48173432	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08	9375276	48173432	142980844	17	4655											
FLT4	2324	broad.mit.edu	37	chr5	180047927	180047927	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcccttggcgttgcacaCgctgcacagatagcgtcccg	7	7	12	15	4	0	1	0	0	0	1	1	1	1	1	2	1	4	5	2	1	1	3			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr5:180047927C>T	uc003mlz.4	-	14	2327	c.2248G>A	c.(2248-2250)Gtg>Atg	p.V750M	FLT4_uc003mma.4_Missense_Mutation_p.V750M|FLT4_uc003mmb.1_Missense_Mutation_p.V283M	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	750	Ig-like C2-type 7.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCGTTGCACACGCTGCACAGA	0.657													4	18					0	0	1	0	0	T	180047927	C	T	180047927	3	4	104	1	0	0	0	0	1	0	0	0	5944	536	19	1	1915	1	FLT4	5	180047927	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08		180047927	867333	18	4656											
IKZF1	10320	broad.mit.edu	37	chr7	50459521	50459521	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggacagactagcaagtaaCgtcgccaaacgtaagagctc	14	6	10	11	3	0	2	0	0	0	2	2	3	0	3	1	1	4	4	1	1	5	3			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr7:50459521C>T	uc003tow.4	+	6	965	c.810C>T	c.(808-810)aaC>aaT	p.N270N	IKZF1_uc022acq.1_Intron|IKZF1_uc003tpa.4_Silent_p.N45N|IKZF1_uc022acr.1_Silent_p.N45N|IKZF1_uc022acs.1_Intron|IKZF1_uc022act.1_Silent_p.N183N|IKZF1_uc022acu.1_Silent_p.N183N|IKZF1_uc003tox.4_Silent_p.N228N|IKZF1_uc022acv.1_Silent_p.N141N|IKZF1_uc022acw.1_Silent_p.N141N|IKZF1_uc022acx.1_Intron|IKZF1_uc022acy.1_Silent_p.N87N|IKZF1_uc022acz.1_Silent_p.N87N|IKZF1_uc011kck.2_Silent_p.N183N|IKZF1_uc003toy.4_Silent_p.N228N|IKZF1_uc003toz.4_Silent_p.N240N|IKZF1_uc010kyx.3_Intron	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	270					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TAGCAAGTAACGTCGCCAAAC	0.393			"D,T"	BCL6	"ALL, DLBCL"								8	32					0	0	1	0	0	T	50459521	C	T	50459521	2	4	104	1	0	0	0	0	0	0	0	1	7614	535	19	1		1	IKZF1	7	50459521	Silent	SNP	C	TCGA-DU-8161-01A-11D-2253-08		50459521	108679142	19	4657											
SPDYE5	442590	broad.mit.edu	37	chr7	75130895	75130895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaggccgttccatgaaccCgagggccaggaagaaccgct	10	6	13	12	3	0	2	0	1	0	1	1	4	1	3	5	3	2	3	5	3	4	2			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr7:75130895C>T	uc011kfy.2	+	5	906	c.770C>T	c.(769-771)cCg>cTg	p.P257L	DQ601342_uc022agh.1_5'Flank	NM_001099435	NP_001092905	A6NIY4	SPDE5_HUMAN	Homo sapiens speedy homolog E5 (Xenopus laevis) (SPDYE5), mRNA.	257	Arg-rich.																TCCATGAACCCGAGGGCCAGG	0.592													9	343					0	0	1	0	0	T	75130895	C	T	75130895	3	4	104	1	0	0	0	0	1	0	0	0	15031	652	23	2	792	2	SPDYE5	7	75130895	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08	24671374	75130895	84007768	20	4658											
PCLO	27445	broad.mit.edu	37	chr7	82583644	82583644	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccactggctctgtataaaCtgtggttatgctatccaggg	8	13	11	9	0	1	0	0	0	1	0	3	0	3	0	2	3	2	4	2	3	5	4			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr7:82583644C>A	uc003uhx.2	-	4	6914	c.6625G>T	c.(6625-6627)Gtt>Ttt	p.V2209F	PCLO_uc003uhv.2_Missense_Mutation_p.V2209F|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2140					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTGTATAAACTGTGGTTATG	0.413													11	49					7.03913e-09	7.15086e-09	1	1	0	A	82583644	C	A	82583644	3	1	104	1	0	0	0	0	1	0	0	0	11583	565	20	5	8904	5	PCLO	7	82583644	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08	7452749	82583644	76555019	21	4659											
GPR22	2845	broad.mit.edu	37	chr7	107114948	107114948	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacatctctgtaaaacctgCaaaccgaattctgacaatgg	14	10	7	10	1	2	2	0	2	2	0	3	3	2	2	2	1	3	2	2	1	5	2			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr7:107114948C>A	uc003vef.3	+	2	1789	c.443C>A	c.(442-444)gCa>gAa	p.A148E	COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron|GPR22_uc022ajv.1_Missense_Mutation_p.A148E	NM_005295	NP_005286	Q99680	GPR22_HUMAN	Homo sapiens G protein-coupled receptor 22 (GPR22), mRNA.	148						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						GTAAAACCTGCAAACCGAATT	0.358													32	107					5.04308e-16	5.37928e-16	1	1	0	A	107114948	C	A	107114948	3	1	104	1	0	0	0	0	1	0	0	0	6682	710	25	5	445	5	GPR22	7	107114948	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08	24531304	107114948	52023715	22	4660											
HTR5A	3361	broad.mit.edu	37	chr7	154863096	154863096	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtctccaacgtcatgatcGcgctcacctgggcactctcc	6	9	9	17	4	4	1	2	1	2	0	7	1	4	1	3	1	1	2	3	1	1	0			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr7:154863096G>C	uc003wlu.1	+	0	551	c.487G>C	c.(487-489)Gcg>Ccg	p.A163P	LOC100128264_uc003wlt.2_5'UTR|LOC100128264_uc011kvt.1_5'UTR	NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	163						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CGTCATGATCGCGCTCACCTG	0.627													19	79					0	0	1	0	0	C	154863096	G	C	154863096	3	2	104	1	0	0	0	0	1	0	0	0	7450	1087	38	5	489	5	HTR5A	7	154863096	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08	47748148	154863096	4275567	23	4661											
NAT2	10	broad.mit.edu	37	chr8	18257611	18257611	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattcttgagcaccagatccGggctgttccctttgagaacc	8	11	9	13	1	1	3	0	2	1	2	3	4	3	3	4	1	2	3	4	1	1	4	rs138592670		TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr8:18257611G>A	uc022asl.1	+	0	98	c.98G>A	c.(97-99)cGg>cAg	p.R33Q	NAT2_uc003wyw.1_Missense_Mutation_p.R33Q	NM_000015	NP_000006	P11245	ARY2_HUMAN	Homo sapiens N-acetyltransferase 2 (arylamine N-acetyltransferase) (NAT2), mRNA.	33					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		CACCAGATCCGGGCTGTTCCC	0.423									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				42	139					0	0	1	0	0	A	18257611	G	A	18257611	3	1	104	1	0	0	0	0	1	0	0	0	10177	1116	39	2	100	2	NAT2	8	18257611	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08		18257611	128106411	24	4662											
GLT6D1	360203	broad.mit.edu	37	chr9	138530972	138530972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttatatttacctgaaataaCgctcaaccaacatcagtgaa	16	12	4	9	1	2	2	2	2	0	0	2	2	2	2	2	0	4	1	2	0	8	6			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr9:138530972C>T	uc010nbd.1	-	1	316	c.62G>A	c.(61-63)cGt>cAt	p.R21H		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	21					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		CCTGAAATAACGCTCAACCAA	0.264													6	49					0	0	1	0	0	T	138530972	C	T	138530972	3	4	104	1	0	0	0	0	1	0	0	0	6468	536	19	1	784	1	GLT6D1	9	138530972	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08		138530972	2682459	25	4663											
KIAA1462	57608	broad.mit.edu	37	chr10	30315252	30315252	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggagtcggcattcctgaaGctcaggactctcatccgtga	8	10	12	11	2	2	2	2	2	1	0	6	4	4	4	2	3	1	2	2	3	1	1			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr10:30315252G>A	uc009xle.2	-	2	3962	c.3825C>T	c.(3823-3825)agC>agT	p.S1275S	KIAA1462_uc001iux.3_Silent_p.S1275S|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Silent_p.S1137S	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	1275										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CATTCCTGAAGCTCAGGACTC	0.612													15	28					0	0	1	0	0	A	30315252	G	A	30315252	2	1	104	1	0	0	0	0	0	0	0	1	8234	962	34	3		3	KIAA1462	10	30315252	Silent	SNP	G	TCGA-DU-8161-01A-11D-2253-08		30315252	105219495	26	4664											
CYP2C19	1557	broad.mit.edu	37	chr10	96535209	96535209	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttctccctcatgacgctgCggaattttgggatggggaag	7	12	14	8	2	2	1	1	1	1	0	3	4	2	4	1	4	1	2	1	4	2	3	rs149590953		TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr10:96535209C>T	uc010qnz.2	+	2	394	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Missense_Mutation_p.R110W	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	132			R -> Q (in allele CYP2C19*6; loss of activity).		exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CATGACGCTGCGGAATTTTGG	0.507													40	57					0	0	1	0	0	T	96535209	C	T	96535209	3	4	104	1	0	0	0	0	1	0	0	0	4166	759	27	1	404	1	CYP2C19	10	96535209	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08	66219957	96535209	38999538	27	4665											
CYP2C8	1558	broad.mit.edu	37	chr10	96818194	96818194	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccctaatgtaacttcgtgtAagagcaacatttttaagcac	13	13	6	9	1	0	1	0	0	0	1	2	1	1	1	1	0	4	4	1	0	5	7			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr10:96818194A>G	uc001kkb.3	-	4	812	c.717T>C	c.(715-717)ctT>ctC	p.L239L	CYP2C8_uc010qoa.2_Silent_p.L169L|CYP2C8_uc010qoc.2_Silent_p.L137L|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Silent_p.L153L|CYP2C8_uc021pwl.1_Silent_p.L169L|CYP2C8_uc010qod.1_Silent_p.L153L	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	239					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	AACTTCGTGTAAGAGCAACAT	0.363													11	17					0	0	1	0	0	G	96818194	A	G	96818194	2	3	104	1	0	0	0	0	0	0	0	1	4167	349	13	3		3	CYP2C8	10	96818194	Silent	SNP	A	TCGA-DU-8161-01A-11D-2253-08	282985	96818194	38716553	28	4666											
ANO9	338440	broad.mit.edu	37	chr11	429619	429619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcaggaccacgcgggcgCgctgccgcttccagatctcc	6	6	13	16	5	1	1	0	0	1	1	3	2	2	2	4	2	2	3	4	2	0	1			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr11:429619C>T	uc001lpi.2	-	10	951	c.866G>A	c.(865-867)cGc>cAc	p.R289H	ANO9_uc001lph.2_5'UTR|ANO9_uc010qvv.1_Missense_Mutation_p.R145H	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	Homo sapiens anoctamin 9 (ANO9), mRNA.	289						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CACGCGGGCGCGCTGCCGCTT	0.687													14	48					0	0	1	0	0	T	429619	C	T	429619	3	4	104	1	0	0	0	0	1	0	0	0	704	768	27	1	1534	1	ANO9	11	429619	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08		429619	134576897	29	4667											
UBQLN3	50613	broad.mit.edu	37	chr11	5530632	5530632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcggggtgggccttaaagcGctgagatatctcttccttca	8	12	11	10	2	2	1	1	1	1	1	5	2	3	1	2	3	1	1	2	3	3	4	rs143866662		TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr11:5530632G>A	uc021qcw.1	-	0	157	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	HBG1_uc001mak.1_Intron|UBQLN3_uc001may.1_Missense_Mutation_p.R53C	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	53	Ubiquitin-like.							p.R53H(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCTTAAAGCGCTGAGATATC	0.507													50	135					0	0	1	0	0	A	5530632	G	A	5530632	3	1	104	1	0	0	0	0	1	0	0	0	16895	1087	38	1	1814	1	UBQLN3	11	5530632	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08	5101013	5530632	129475884	30	4668											
OR52N2	390077	broad.mit.edu	37	chr11	5841699	5841699	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgctgtcgtggggaactGtgggctcatctgcctcatca	6	12	12	11	1	4	0	3	0	1	0	5	1	4	1	1	3	3	2	1	3	1	1			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr11:5841699G>C	uc010qzp.2	+	0	134	c.134G>C	c.(133-135)tGt>tCt	p.C45S	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGGGGAACTGTGGGCTCATC	0.547													20	61					0	0	1	0	0	C	5841699	G	C	5841699	3	2	104	1	0	0	0	0	1	0	0	0	11128	1377	48	5	136	5	OR52N2	11	5841699	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08	311067	5841699	129164817	31	4669											
OR52E4	390081	broad.mit.edu	37	chr11	5906225	5906225	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttccctctcaagatgtcCgactaaaggccttcaatacc	10	10	6	15	1	2	1	2	0	1	1	5	2	4	1	5	1	1	0	5	1	5	4			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr11:5906225C>T	uc010qzs.2	+	0	703	c.703C>T	c.(703-705)Cga>Tga	p.R235*	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAAGATGTCCGACTAAAGGC	0.398													51	121					0	0	1	0	0	T	5906225	C	T	5906225	4	4	104	1	0	0	0	0	0	1	0	0	11116	644	23	2	705	2	OR52E4	11	5906225	Nonsense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08	64526	5906225	129100291	32	4670											
AVPR1A	552	broad.mit.edu	37	chr12	63543919	63543919	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agatgaagccgtagcaggtaCccaagatgaccacgggcgcc	12	4	13	12	3	0	4	0	2	0	2	0	4	0	4	4	2	3	3	4	2	4	2			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr12:63543919C>T	uc001sro.1	-	0	2672	c.698G>A	c.(697-699)gGt>gAt	p.G233D		NM_000706	NP_000697	P37288	V1AR_HUMAN	Homo sapiens arginine vasopressin receptor 1A (AVPR1A), mRNA.	233					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	GTAGCAGGTACCCAAGATGAC	0.642													37	90					0	0	1	0	0	T	63543919	C	T	63543919	3	4	104	1	0	0	0	0	1	0	0	0	1231	507	18	3	566	3	AVPR1A	12	63543919	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08		63543919	70307976	33	4671											
PAH	5053	broad.mit.edu	37	chr12	103249024	103249025	+	Frame_Shift_Ins	INS	-	-	C																															ctcatagcaagcatgggtttINStatacaaggacttcagagtc																								rs63749676		TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr12:103249024_103249025insC	uc001tjq.1	-	5	1068_1069	c.595_596insG	c.(595-597)aaafs	p.K199fs	PAH_uc010swc.1_Frame_Shift_Ins_p.K199fs	NM_000277	NP_000268	P00439	PH4H_HUMAN	Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	199					L-phenylalanine catabolic process|catecholamine biosynthetic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	AGCATGGGTTTTATACAAGGAC	0.446													8	65	---	---	---	---						C	103249025	-	C	103249024	7	5	104	1	0	1	1	0	0	0	0	0	11394	1841	64	0	794	0	PAH	12	103249024	Frame_Shift_Ins	INS	-	TCGA-DU-8161-01A-11D-2253-08	39705105	103249024	30602871	34	4672											
FLVCR2	55640	broad.mit.edu	37	chr14	76101273	76101273	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaagaagtgaatgctggAagaattggcctgacgatcgt	12	8	16	5	2	0	4	0	2	0	2	1	7	0	6	1	4	1	1	1	4	5	1			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr14:76101273A>G	uc001xrs.2	+	4	1417	c.1041A>G	c.(1039-1041)ggA>ggG	p.G347G	FLVCR2_uc010tvd.1_Silent_p.G142G	NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN	Homo sapiens feline leukemia virus subgroup C cellular receptor family, member 2 (FLVCR2), transcript variant 1, mRNA.	347					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	p.G347G(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		TGAATGCTGGAAGAATTGGCC	0.527													3	27					0	0	1	0	0	G	76101273	A	G	76101273	2	3	104	1	0	0	0	0	0	0	0	1	5946	233	9	3		3	FLVCR2	14	76101273	Silent	SNP	A	TCGA-DU-8161-01A-11D-2253-08		76101273	31248267	35	4673											
CHRNB4	1143	broad.mit.edu	37	chr15	78921630	78921630	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggaaggtaggcagcttGtgcaggaagcagcgcttgac	12	6	16	7	1	0	2	0	1	0	1	0	4	0	4	0	4	4	6	0	4	4	3			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr15:78921630G>T	uc002bed.1	-	4	1129	c.1017C>A	c.(1015-1017)caC>caA	p.H339Q	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.H157Q	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	339					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						TAGGCAGCTTGTGCAGGAAGC	0.642													13	33					0.00010058	0.00010058	1	1	0	T	78921630	G	T	78921630	3	4	104	1	0	0	0	0	1	0	0	0	3393	1368	48	5	487	5	CHRNB4	15	78921630	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08		78921630	23609762	36	4674											
RASGRF1	5923	broad.mit.edu	37	chr15	79277481	79277481	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctacggccacccacttctcGatggcgctcaccctggcgtt	5	9	10	17	4	2	0	1	0	1	0	3	1	2	0	3	3	1	3	3	3	1	3			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr15:79277481G>A	uc002beq.3	-	23	3705	c.3330C>T	c.(3328-3330)atC>atT	p.I1110I	RASGRF1_uc002bep.3_Silent_p.I1094I|RASGRF1_uc010blm.1_Silent_p.I1019I|RASGRF1_uc002ber.4_Silent_p.I1094I|RASGRF1_uc002beo.3_Silent_p.I326I	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	1112	Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCCACTTCTCGATGGCGCTCA	0.517													26	128					0	0	1	0	0	A	79277481	G	A	79277481	2	1	104	1	0	0	0	0	0	0	0	1	13072	1048	37	2		2	RASGRF1	15	79277481	Silent	SNP	G	TCGA-DU-8161-01A-11D-2253-08	355851	79277481	23253911	37	4675											
TMCO7	79613	broad.mit.edu	37	chr16	68894308	68894308	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaaggcccttctgaatgttGctcagcacacatctctgggg	8	10	11	12	0	3	1	1	1	2	0	4	1	3	1	1	3	2	4	1	3	2	2			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr16:68894308G>T	uc002ewi.4	+	1	628	c.616G>T	c.(616-618)Gct>Tct	p.A206S	TMCO7_uc002ewh.3_Missense_Mutation_p.A206S	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	Homo sapiens transmembrane and coiled-coil domains 7 (TMCO7), mRNA.	206						integral to membrane	binding			endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|prostate(2)	20		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		TCTGAATGTTGCTCAGCACAC	0.517													54	200					3.57465e-26	3.87758e-26	1	1	0	T	68894308	G	T	68894308	3	4	104	1	0	0	0	0	1	0	0	0	15998	1319	46	5	622	5	TMCO7	16	68894308	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08		68894308	21460445	38	4676											
ANKFY1	51479	broad.mit.edu	37	chr17	4088255	4088255	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagagcttcctccgtctgCaggtttgggttggcgccttg	3	12	15	11	2	1	1	0	0	1	1	3	1	3	1	3	4	2	5	3	4	0	4			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr17:4088255C>G	uc002fxn.3	-	11	1800	c.1683G>C	c.(1681-1683)ctG>ctC	p.L561L	ANKFY1_uc002fxo.3_Silent_p.L519L|ANKFY1_uc002fxp.3_Silent_p.L518L|ANKFY1_uc010ckp.3_Silent_p.L460L|ANKFY1_uc002fxq.1_Silent_p.L519L	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	Homo sapiens ankyrin repeat and FYVE domain containing 1 (ANKFY1), transcript variant 1, mRNA.	519						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CCTCCGTCTGCAGGTTTGGGT	0.622													12	54					0	0	1	0	0	G	4088255	C	G	4088255	2	3	104	1	0	0	0	0	0	0	0	1	626	697	25	5		5	ANKFY1	17	4088255	Silent	SNP	C	TCGA-DU-8161-01A-11D-2253-08		4088255	77106955	39	4677											
KCNJ2	3759	broad.mit.edu	37	chr17	68171457	68171457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatcttctgcctggctttcGtcctgtcatggctgtttttt	2	21	8	10	1	3	0	1	0	2	0	5	0	4	0	2	2	1	3	2	2	1	6	rs147750704		TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr17:68171457G>A	uc010dfg.3	+	1	678	c.277G>A	c.(277-279)Gtc>Atc	p.V93I	KCNJ2_uc002jir.3_Missense_Mutation_p.V93I|KCNJ2_uc021ucj.1_Missense_Mutation_p.V93I	NM_000891	NP_000882	P63252	IRK2_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 2 (KCNJ2), mRNA.	93					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					CCTGGCTTTCGTCCTGTCATG	0.537													36	116					0	0	1	0	0	A	68171457	G	A	68171457	3	1	104	1	0	0	0	0	1	0	0	0	8051	1145	40	1	279	1	KCNJ2	17	68171457	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08	64083202	68171457	13023753	40	4678											
ALPK2	115701	broad.mit.edu	37	chr18	56246388	56246388	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggatttcccttcattccCggctgcctcaccctggcaga	5	12	9	15	1	2	1	2	0	0	1	4	2	4	2	4	3	1	2	4	3	0	4			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr18:56246388C>T	uc002lhj.4	-	3	1834	c.1620G>A	c.(1618-1620)ccG>ccA	p.P540P		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	540							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CCTTCATTCCCGGCTGCCTCA	0.542											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	57	180					0	0	1	0	0	T	56246388	C	T	56246388	2	4	104	1	0	0	0	0	0	0	0	1	545	639	23	2		2	ALPK2	18	56246388	Silent	SNP	C	TCGA-DU-8161-01A-11D-2253-08		56246388	21830860	41	4679											
FBN3	84467	broad.mit.edu	37	chr19	8136967	8136967	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcactgcgtcgtggccggtCccgaggggagaggccattga	6	6	18	11	4	0	2	0	1	0	1	2	4	1	2	3	6	1	1	3	6	0	1			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr19:8136967C>A	uc002mjf.3	-	61	8070	c.8053G>T	c.(8053-8055)Gac>Tac	p.D2685Y	FBN3_uc002mje.3_Missense_Mutation_p.D481Y	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2685						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.R2684R(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CGTGGCCGGTCCCGAGGGGAG	0.642													29	100					4.4194e-11	4.56196e-11	1	1	0	A	8136967	C	A	8136967	3	1	104	1	0	0	0	0	1	0	0	0	5704	855	30	5	384	5	FBN3	19	8136967	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08		8136967	50992016	42	4680											
IGFL2	147920	broad.mit.edu	37	chr19	46664038	46664038	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgctttgagctctgctgtCttgattcctttggcctcaca	4	16	8	13	0	3	2	1	2	2	0	4	2	4	2	3	1	3	3	3	1	0	4			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr19:46664038C>G	uc002peb.3	+	3	565	c.274C>G	c.(274-276)Ctt>Gtt	p.L92V	IGFL2_uc010xxv.2_Missense_Mutation_p.L81V	NM_001002915	NP_001002915	Q6UWQ7	IGFL2_HUMAN	Homo sapiens IGF-like family member 2 (IGFL2), transcript variant 1, mRNA.	81						extracellular region	protein binding			cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		GCTCTGCTGTCTTGATTCCTT	0.527													71	242					0	0	1	0	0	G	46664038	C	G	46664038	3	3	104	1	0	0	0	0	1	0	0	0	7587	913	32	5	307	5	IGFL2	19	46664038	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08	38527071	46664038	12464945	43	4681											
HAS1	3036	broad.mit.edu	37	chr19	52220447	52220447	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgtccgagtcacagacCtgtaaggtggaaggggccag	9	8	15	9	1	1	1	1	0	0	1	2	3	2	2	3	4	0	1	3	4	2	2			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr19:52220447C>T	uc002pxn.1	-	2	737	c.724_splice	c.e2-1	p.V242_splice	HAS1_uc010epc.1_Splice_Site|HAS1_uc010epd.1_Splice_Site_p.V200_splice|HAS1_uc002pxo.1_Splice_Site_p.V235_splice|HAS1_uc002pxp.1_Splice_Site_p.V234_splice	NM_001523	NP_001514	Q92839	HAS1_HUMAN	Homo sapiens hyaluronan synthase 1 (HAS1), mRNA.	235					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGTCACAGACCTGTAAGGTGG	0.622													10	40					0	0	1	0	0	T	52220447	C	T	52220447	5	4	104	1	0	0	0	0	0	0	1	0	6961	695	24	3	1046	3	HAS1	19	52220447	Splice_Site	SNP	C	TCGA-DU-8161-01A-11D-2253-08	5556409	52220447	6908536	44	4682											
LILRB3	11025	broad.mit.edu	37	chr19	54802564	54802564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accggagcatgtgtactggcCcccgtaggagcggctcacag	8	6	14	13	3	1	0	1	0	0	0	1	2	1	2	3	4	3	4	3	4	2	2			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr19:54802564C>T	uc002qfd.3	-	4	969	c.877G>A	c.(877-879)Ggc>Agc	p.G293S	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Missense_Mutation_p.G229S	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	292	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGTACTGGCCCCCGTAGGAG	0.682													28	64					0	0	1	0	0	T	54802564	C	T	54802564	3	4	104	1	0	0	0	0	1	0	0	0	8792	623	22	3		3	LILRB3	19	54802564	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08	2582117	54802564	4326419	45	4683											
TM9SF4	9777	broad.mit.edu	37	chr20	30723918	30723918	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgaacccagctaccttatgaAtactattcactgcccttctg	10	12	5	14	1	2	1	1	1	1	0	2	2	2	1	3	0	5	1	3	0	6	6			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr20:30723918A>G	uc002wxj.2	+	2	406	c.171A>G	c.(169-171)gaA>gaG	p.E57E	TM9SF4_uc010ztr.1_5'UTR|TM9SF4_uc010zts.1_5'UTR|TM9SF4_uc002wxk.2_Silent_p.E40E	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.	57						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TACCTTATGAATACTATTCAC	0.512													21	78					0	0	1	0	0	G	30723918	A	G	30723918	2	3	104	1	0	0	0	0	0	0	0	1	15977	98	4	3		3	TM9SF4	20	30723918	Silent	SNP	A	TCGA-DU-8161-01A-11D-2253-08		30723918	32301602	46	4684											
ERG	2078	broad.mit.edu	37	chr21	39755664	39755664	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatagtagtaacggagggcGcggctgagcttatcgtagtt	9	11	14	7	4	1	1	1	1	0	0	2	2	1	2	0	3	2	6	0	3	5	6	rs143039786		TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr21:39755664G>A	uc010gnw.3	-	11	1417	c.1122C>T	c.(1120-1122)cgC>cgT	p.R374R	ERG_uc021wjd.1_Intron|ERG_uc002yxa.3_Silent_p.R367R|ERG_uc011aek.2_Silent_p.R275R|ERG_uc010gnv.3_Silent_p.R251R|ERG_uc010gnx.3_Silent_p.R350R|ERG_uc011ael.2_Silent_p.R374R|ERG_uc002yxb.3_Silent_p.R350R	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	374					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				AACGGAGGGCGCGGCTGAGCT	0.592			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"								30	80					0	0	1	0	0	A	39755664	G	A	39755664	2	1	104	1	0	0	0	0	0	0	0	1	5222	1074	38	1		1	ERG	21	39755664	Silent	SNP	G	TCGA-DU-8161-01A-11D-2253-08		39755664	8374231	47	4685											
FTSJ1	24140	broad.mit.edu	37	chrX	48337056	48337056	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctgcaggctatggctccActaccaggtgtggtacagat	9	9	12	11	0	0	1	0	0	0	1	1	2	1	1	3	4	3	4	3	4	3	3			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chrX:48337056A>G	uc004djo.1	+	3	566	c.243A>G	c.(241-243)ccA>ccG	p.P81P	FTSJ1_uc004djn.1_Silent_p.P81P|FTSJ1_uc011mlw.1_Intron	NM_012280	NP_036412	Q9UET6	RRMJ1_HUMAN	Homo sapiens FtsJ homolog 1 (E. coli) (FTSJ1), transcript variant 1, mRNA.	81					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						CTATGGCTCCACTACCAGGTG	0.617													5	22					0	0	1	0	0	G	48337056	A	G	48337056	2	3	104	1	0	0	0	0	0	0	0	1	6087	146	6	3		3	FTSJ1	23	48337056	Silent	SNP	A	TCGA-DU-8161-01A-11D-2253-08		48337056	106933504	48	4686											
LAS1L	81887	broad.mit.edu	37	chrX	64752492	64752492	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaactttgtcttcctctcTgagataagattcacaaacct	12	13	5	11	0	3	2	1	1	2	2	5	3	4	2	2	0	2	1	2	0	3	4			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chrX:64752492T>C	uc004dwa.2	-	2	472	c.381A>G	c.(379-381)tcA>tcG	p.S127S	LAS1L_uc004dwc.2_Silent_p.S127S|LAS1L_uc004dwd.2_Silent_p.S85S	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	Homo sapiens LAS1-like (S. cerevisiae) (LAS1L), transcript variant 1, mRNA.	127						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						TCTTCCTCTCTGAGATAAGAT	0.463													22	57					0	0	1	0	0	C	64752492	T	C	64752492	2	2	104	1	0	0	0	0	0	0	0	1	8636	1567	55	4		4	LAS1L	23	64752492	Silent	SNP	T	TCGA-DU-8161-01A-11D-2253-08	16415436	64752492	90518068	49	4687											
MACF1	23499	broad.mit.edu	37	chr1	39900289	39900289	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgagcagctcaggcagcaAcaagaggaaatgagggtaag	16	4	14	7	0	1	3	1	2	0	1	1	4	1	4	0	3	4	5	0	3	4	1			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr1:39900289A>G	uc021olw.1	+	32	13089	c.13089A>G	c.(13087-13089)caA>caG	p.Q4363Q	MACF1_uc021ols.1_Silent_p.Q3861Q|MACF1_uc001cdc.2_Silent_p.Q3731Q|MACF1_uc021olt.1_Silent_p.Q3861Q|MACF1_uc001cda.1_Silent_p.Q3748Q	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	5920					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCAGGCAGCAACAAGAGGAAA	0.413													3	58					0	0	1	0	0	G	39900289	A	G	39900289	2	3	105	1	0	0	0	0	0	0	0	1	9144	40	2	3		3	MACF1	1	39900289	Silent	SNP	A	TCGA-DU-8162-01A-21D-2253-08		39900289	209350332	1	4688											
FLG	2312	broad.mit.edu	37	chr1	152280001	152280001	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcctgaccctcttgggacGttgagtgcctggagctgtct	4	13	13	11	1	2	2	0	2	2	0	3	4	3	4	3	2	2	2	3	2	0	2			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr1:152280001G>C	uc001ezu.1	-	2	7397	c.7361C>G	c.(7360-7362)aCg>aGg	p.T2454R		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2454	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTTGGGACGTTGAGTGCCT	0.582									Ichthyosis				15	472					0	0	1	0	0	C	152280001	G	C	152280001	3	2	105	1	0	0	0	0	1	0	0	0	5922	1145	40	5	4828	5	FLG	1	152280001	Missense_Mutation	SNP	G	TCGA-DU-8162-01A-21D-2253-08	112379712	152280001	96970620	2	4689											
KPRP	448834	broad.mit.edu	37	chr1	152732631	152732631	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtatcaaggctcctatagCagttgtggcccccagtttca	9	11	9	12	0	2	0	2	0	0	0	3	0	3	0	3	2	1	5	3	2	4	5			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr1:152732631C>A	uc001fal.1	+	1	625	c.567C>A	c.(565-567)agC>agA	p.S189R	KPRP_uc021ozf.1_Missense_Mutation_p.S189R	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	189	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCCTATAGCAGTTGTGGCC	0.562													5	122					0.00116845	0.00124811	1	1	0	A	152732631	C	A	152732631	3	1	105	1	0	0	0	0	1	0	0	0	8436	709	25	5	569	5	KPRP	1	152732631	Missense_Mutation	SNP	C	TCGA-DU-8162-01A-21D-2253-08	452630	152732631	96517990	3	4690											
HMCN1	83872	broad.mit.edu	37	chr1	186055385	186055385	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttactattatagttcctccAagtgtcattggtcctaaatc	10	17	5	9	0	1	0	1	0	0	0	5	0	4	0	3	1	1	1	3	1	7	8			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr1:186055385A>T	uc001grq.1	+	57	9121	c.8892A>T	c.(8890-8892)ccA>ccT	p.P2964P	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2964	Ig-like C2-type 28.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TAGTTCCTCCAAGTGTCATTG	0.368													8	47					0	0	1	0	0	T	186055385	A	T	186055385	2	4	105	1	0	0	0	0	0	0	0	1	7220	117	5	5		5	HMCN1	1	186055385	Silent	SNP	A	TCGA-DU-8162-01A-21D-2253-08	33322754	186055385	63195236	4	4691											
C4BPA	722	broad.mit.edu	37	chr1	207297690	207297690	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaacaataggtgtttggagaCcaagccctcctacctgtgaa	13	9	9	10	0	0	2	0	1	0	1	1	3	1	2	4	2	3	1	4	2	6	3			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr1:207297690C>A	uc001hfo.3	+	5	879	c.685C>A	c.(685-687)Cca>Aca	p.P229T		NM_000715	NP_000706	P04003	C4BPA_HUMAN	Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA.	229	Sushi 3.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TGTTTGGAGACCAAGCCCTCC	0.428													10	43					1.5842e-08	1.7728e-08	1	1	0	A	207297690	C	A	207297690	3	1	105	1	0	0	0	0	1	0	0	0	2249	507	18	5	703	5	C4BPA	1	207297690	Missense_Mutation	SNP	C	TCGA-DU-8162-01A-21D-2253-08	21242305	207297690	41952931	5	4692											
SNRNP200	23020	broad.mit.edu	37	chr2	96970469	96970469	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctttcctcctgcatctgCggtttggtccgttgagcctt	2	17	9	13	2	2	1	0	1	2	0	5	1	5	1	4	2	3	3	4	2	0	5			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr2:96970469C>T	uc002svu.3	-	1	315	c.183G>A	c.(181-183)ccG>ccA	p.P61P		NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	61						U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.K60I(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CCTGCATCTGCGGTTTGGTCC	0.527													5	96					0	0	1	0	0	T	96970469	C	T	96970469	2	4	105	1	0	0	0	0	0	0	0	1	14852	755	27	1		1	SNRNP200	2	96970469	Silent	SNP	C	TCGA-DU-8162-01A-21D-2253-08		96970469	146228904	6	4693											
FARP2	9855	broad.mit.edu	37	chr2	242432832	242432832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcccacgtctacttcttccGggctgagagcaagtacacat	10	10	8	13	2	2	1	0	1	2	1	4	2	4	1	2	1	3	3	2	1	3	4			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr2:242432832G>A	uc002wbi.2	+	25	3184	c.3020G>A	c.(3019-3021)cGg>cAg	p.R1007Q		NM_014808	NP_055623	O94887	FARP2_HUMAN	Homo sapiens FERM, RhoGEF and pleckstrin domain protein 2 (FARP2), mRNA.	1007	PH 2.				Rac protein signal transduction|axon guidance|neuron remodeling|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding	p.R1007Q(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TACTTCTTCCGGGCTGAGAGC	0.527													5	49					0	0	1	0	0	A	242432832	G	A	242432832	3	1	105	1	0	0	0	0	1	0	0	0	5677	1116	39	2	3118	2	FARP2	2	242432832	Missense_Mutation	SNP	G	TCGA-DU-8162-01A-21D-2253-08	145462363	242432832	766541	7	4694											
C3orf30	152405	broad.mit.edu	37	chr3	118865808	118865808	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaagaccttccgtacagAttgaccgcagaatgtcaggg	13	7	10	11	2	1	4	1	1	0	3	2	4	2	4	4	1	1	2	4	1	3	3			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr3:118865808A>G	uc003ecb.1	+	0	812	c.772A>G	c.(772-774)Att>Gtt	p.I258V	IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.I258V	NM_152539	NP_689752	Q96M34	CC030_HUMAN	Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA.	258										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		TTCCGTACAGATTGACCGCAG	0.502													5	62					0	0	1	0	0	G	118865808	A	G	118865808	3	3	105	1	0	0	0	0	1	0	0	0	2220	333	12	3	774	3	C3orf30	3	118865808	Missense_Mutation	SNP	A	TCGA-DU-8162-01A-21D-2253-08		118865808	79156622	8	4695											
PIGG	54872	broad.mit.edu	37	chr4	527753	527753	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccacttagtgcacttcctGagctcagaaacacgcaggtg	11	8	10	12	1	1	2	1	1	0	1	2	2	2	2	2	1	4	3	2	1	2	2			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr4:527753G>A	uc003gak.4	+	11	2854	c.2718G>A	c.(2716-2718)ctG>ctA	p.L906L	PIGG_uc003gaj.4_Silent_p.L898L|PIGG_uc011bux.2_Non-coding_Transcript|PIGG_uc010ibf.3_Silent_p.L773L|PIGG_uc003gal.4_Silent_p.L817L	NM_001127178	NP_001120650	Q5H8A4	PIGG_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class G (PIGG), transcript variant 1, mRNA.	906					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	CP2 mannose-ethanolamine phosphotransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TGCACTTCCTGAGCTCAGAAA	0.597													4	47					0	0	1	0	0	A	527753	G	A	527753	2	1	105	1	0	0	0	0	0	0	0	1	11888	1277	45	3		3	PIGG	4	527753	Silent	SNP	G	TCGA-DU-8162-01A-21D-2253-08		527753	190626523	9	4696											
ADH1A	124	broad.mit.edu	37	chr4	100208046	100208046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttctccaacactctccaCgatgccggctgcctcatggc	6	9	7	19	2	3	0	1	0	2	0	5	1	3	0	5	2	3	1	5	2	1	1	rs141454408		TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr4:100208046C>T	uc003hur.2	-	2	334	c.220G>A	c.(220-222)Gtg>Atg	p.V74M	LOC100507053_uc003hum.2_Non-coding_Transcript|ADH1A_uc010ilf.1_5'Flank|ADH1A_uc010ilg.2_Missense_Mutation_p.V74M	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	74					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	ACACTCTCCACGATGCCGGCT	0.507													18	200					0	0	1	0	0	T	100208046	C	T	100208046	3	4	105	1	0	0	0	0	1	0	0	0	307	536	19	1	935	1	ADH1A	4	100208046	Missense_Mutation	SNP	C	TCGA-DU-8162-01A-21D-2253-08	99680293	100208046	90946230	10	4697											
TAS2R1	50834	broad.mit.edu	37	chr5	9629469	9629469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacaggatagacagcaacgCgctgatgggtgcacccctgc	10	5	14	12	2	0	2	0	1	0	1	0	4	0	4	2	3	4	3	2	3	2	1	rs145804099		TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr5:9629469C>T	uc003jem.1	-	0	995	c.676G>A	c.(676-678)Gcg>Acg	p.A226T		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA.	226					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	p.A226S(2)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GACAGCAACGCGCTGATGGGT	0.498													7	50					0	0	1	0	0	T	9629469	C	T	9629469	3	4	105	1	0	0	0	0	1	0	0	0	15562	768	27	1	227	1	TAS2R1	5	9629469	Missense_Mutation	SNP	C	TCGA-DU-8162-01A-21D-2253-08		9629469	171285791	11	4698											
NMUR2	56923	broad.mit.edu	37	chr5	151772005	151772005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatgctgcctggaagcggCgagacagtaggttatagata	12	8	15	6	2	0	2	0	0	0	2	0	5	0	4	1	4	3	3	1	4	6	4			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr5:151772005C>T	uc003luv.2	-	3	1161	c.995G>A	c.(994-996)cGc>cAc	p.R332H		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	332					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CTGGAAGCGGCGAGACAGTAG	0.493													7	114					0	0	1	0	0	T	151772005	C	T	151772005	3	4	105	1	0	0	0	0	1	0	0	0	10507	768	27	1	256	1	NMUR2	5	151772005	Missense_Mutation	SNP	C	TCGA-DU-8162-01A-21D-2253-08	142142536	151772005	29143255	12	4699											
FOXQ1	94234	broad.mit.edu	37	chr6	1313285	1313285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgcagcaagccatatacgCggcggcccaagcccccctac	10	3	9	19	4	0	0	0	0	0	0	0	0	0	0	5	2	5	2	5	2	5	3			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr6:1313285C>T	uc003mtl.4	+	0	611	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W		NM_033260	NP_150285	Q9C009	FOXQ1_HUMAN	Homo sapiens forkhead box Q1 (FOXQ1), mRNA.	116					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|caspase regulator activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		GCCATATACGCGGCGGCCCAA	0.746													7	38					0	0	1	0	0	T	1313285	C	T	1313285	3	4	105	1	0	0	0	0	1	0	0	0	6030	759	27	1	348	1	FOXQ1	6	1313285	Missense_Mutation	SNP	C	TCGA-DU-8162-01A-21D-2253-08		1313285	169801782	13	4700											
MRS2	57380	broad.mit.edu	37	chr6	24412567	24412567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtctggagagggtcaactcGttacataccctttacctttt	8	15	8	10	1	2	1	1	0	1	1	3	2	2	1	2	2	4	1	2	2	4	6			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr6:24412567G>A	uc011djl.2	+	5	663	c.541G>A	c.(541-543)Gtt>Att	p.V181I	MRS2_uc003nea.3_Missense_Mutation_p.V178I|MRS2_uc003neb.3_Missense_Mutation_p.V178I|MRS2_uc011djm.2_Non-coding_Transcript|MRS2_uc011djn.2_Missense_Mutation_p.V128I	NM_020662	NP_065713	Q9HD23	MRS2_HUMAN	Homo sapiens MRS2 magnesium homeostasis factor homolog (S. cerevisiae) (MRS2), mRNA.	178					ion transport	integral to membrane|mitochondrial inner membrane		p.P181H(1)|p.V178I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						GGGTCAACTCGTTACATACCC	0.388													7	83					0	0	1	0	0	A	24412567	G	A	24412567	3	1	105	1	0	0	0	0	1	0	0	0	9851	1145	40	1	550	1	MRS2	6	24412567	Missense_Mutation	SNP	G	TCGA-DU-8162-01A-21D-2253-08	23099282	24412567	146702500	14	4701											
SRF	6722	broad.mit.edu	37	chr6	43139485	43139487	+	In_Frame_Del	DEL	GGC	GGC	-																															ggaccccgacggggcggccgGgcggcggcggcgggacacgc																										TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr6:43139485_43139487delGGC	uc003oui.3	+	0	566_568	c.91_93delGGC	c.(91-93)ggcdel	p.G35del	SRF_uc011dvf.2_5'Flank	NM_003131	NP_003122	P11831	SRF_HUMAN	Homo sapiens serum response factor (c-fos serum response element-binding transcription factor) (SRF), mRNA.	35	Gly-rich.				angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			ggggcggccgggcggcggcggcg	0.818													4	7	---	---	---	---						-	43139487	GGC	-	43139485	7	5	105	1	0	1	0	1	0	0	0	0	15142	1232	43	0	93	0	SRF	6	43139485	In_Frame_Del	DEL	GGC	TCGA-DU-8162-01A-21D-2253-08	18726918	43139485	127975582	15	4702											
SLC22A16	85413	broad.mit.edu	37	chr6	110778136	110778136	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcagacatgatgaggggtGactcccatgaacacagaagc	13	6	12	10	0	0	6	0	4	0	2	1	6	1	6	1	2	3	1	1	2	2	0			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr6:110778136G>A	uc003puf.3	-	1	205	c.138C>T	c.(136-138)gtC>gtT	p.V46V	SLC22A16_uc003pue.3_Silent_p.V59V|SLC22A16_uc003pug.3_Silent_p.V46V	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	46					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		GATGAGGGGTGACTCCCATGA	0.473													6	37					0	0	1	0	0	A	110778136	G	A	110778136	2	1	105	1	0	0	0	0	0	0	0	1	14447	1277	45	3		3	SLC22A16	6	110778136	Silent	SNP	G	TCGA-DU-8162-01A-21D-2253-08	67638651	110778136	60336931	16	4703											
EGFR	1956	broad.mit.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtcaagacctgcccggcagGagtcatgggagaaaacaaca	14	4	12	11	2	2	2	2	0	0	2	2	4	2	3	2	3	3	1	2	3	4	0	rs139236063		TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr7:55233043G>T	uc003tqk.3	+	14	2039	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(31)|p.A597T(1)|p.A597P(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			176	127					1.06226e-90	1.21772e-90	1	1	0	T	55233043	G	T	55233043	3	4	105	1	0	0	0	0	1	0	0	0	4967	1174	41	5	1862	5	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-DU-8162-01A-21D-2253-08		55233043	103905620	17	4704											
FBXO24	26261	broad.mit.edu	37	chr7	100187922	100187922	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgtcgcagactcagtccGcgcctccaagatcagggttc	8	9	10	14	3	3	2	2	0	1	2	7	2	5	2	3	1	0	2	3	1	1	1			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr7:100187922G>A	uc011kjz.1	+	2	446	c.378G>A	c.(376-378)ccG>ccA	p.P126P	FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Silent_p.P88P|FBXO24_uc003uvm.1_Silent_p.P88P|FBXO24_uc003uvn.1_Intron|LOC100129845_uc011kjy.2_Non-coding_Transcript|FBXO24_uc011kka.1_Silent_p.P76P	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	88						ubiquitin ligase complex	ubiquitin-protein ligase activity	p.S125N(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GACTCAGTCCGCGCCTCCAAG	0.602													9	39					0	0	1	0	0	A	100187922	G	A	100187922	2	1	105	1	0	0	0	0	0	0	0	1	5735	1074	38	1		1	FBXO24	7	100187922	Silent	SNP	G	TCGA-DU-8162-01A-21D-2253-08	44954879	100187922	58950741	18	4705											
FLNC	2318	broad.mit.edu	37	chr7	128490958	128490958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacccactgagaaaggcctgCaccagatggggatcaagtat	13	6	11	11	0	1	2	1	1	0	2	1	4	1	3	3	3	1	2	3	3	3	1			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr7:128490958C>T	uc003vnz.4	+	32	5709	c.5500C>T	c.(5500-5502)Cac>Tac	p.H1834Y	FLNC_uc003voa.4_Missense_Mutation_p.H1801Y	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1834					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GAAAGGCCTGCACCAGATGGG	0.617													16	173					0	0	1	0	0	T	128490958	C	T	128490958	3	4	105	1	0	0	0	0	1	0	0	0	5935	710	25	3	5630	3	FLNC	7	128490958	Missense_Mutation	SNP	C	TCGA-DU-8162-01A-21D-2253-08	28303036	128490958	30647705	19	4706											
MYOM2	9172	broad.mit.edu	37	chr8	2027640	2027640	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaacctttctctccgcaGccgttcatttggagggagag	7	12	11	11	2	3	1	2	0	1	1	5	3	4	2	3	2	2	2	3	2	1	3			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr8:2027640G>A	uc003wpx.4	+	13	1601	c.1463_splice	c.e13-1	p.A488_splice	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	488					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCTCTCCGCAGCCGTTCATTT	0.512													43	293					0	0	1	0	0	A	2027640	G	A	2027640	5	1	105	1	0	0	0	0	0	0	1	0	10092	985	34	3	1508	3	MYOM2	8	2027640	Splice_Site	SNP	G	TCGA-DU-8162-01A-21D-2253-08		2027640	144336382	20	4707											
OPN4	94233	broad.mit.edu	37	chr10	88418311	88418311	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atcaccctgacggccatcgcCctggaccgctacctggtaat	8	8	9	16	3	1	1	1	1	0	0	2	2	1	2	5	3	1	2	5	3	2	2			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr10:88418311C>T	uc010qmk.1	+	4	755	c.528C>T	c.(526-528)gcC>gcT	p.A176A	OPN4_uc001kdp.3_Silent_p.A176A|OPN4_uc001kdq.3_Silent_p.A165A|OPN4_uc009xsx.1_5'Flank	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.	165					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CGGCCATCGCCCTGGACCGCT	0.612													8	62					0	0	1	0	0	T	88418311	C	T	88418311	2	4	105	1	0	0	0	0	0	0	0	1	10882	610	22	3		3	OPN4	10	88418311	Silent	SNP	C	TCGA-DU-8162-01A-21D-2253-08		88418311	47116436	21	4708											
IPO7	10527	broad.mit.edu	37	chr11	9459665	9459665	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgttctcggactctgtgCtcttattgatatggaacaga	8	15	11	7	1	3	2	0	1	3	1	4	4	3	4	0	2	2	2	0	2	3	4			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr11:9459665C>G	uc001mho.3	+	21	2670	c.2528C>G	c.(2527-2529)gCt>gGt	p.A843G		NM_006391	NP_006382	O95373	IPO7_HUMAN	Homo sapiens importin 7 (IPO7), mRNA.	843					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	Ran GTPase binding|protein transporter activity|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GGACTCTGTGCTCTTATTGAT	0.308													5	89					0	0	1	0	0	G	9459665	C	G	9459665	3	3	105	1	0	0	0	0	1	0	0	0	7797	797	28	5	2614	5	IPO7	11	9459665	Missense_Mutation	SNP	C	TCGA-DU-8162-01A-21D-2253-08		9459665	125546851	22	4709											
IQSEC3	440073	broad.mit.edu	37	chr12	274929	274929	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcacactggtgaccccgctCtcgggctccgagaagaagca	10	6	11	14	3	2	3	1	1	1	2	4	4	3	3	3	2	1	3	3	2	2	0			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr12:274929C>T	uc001qhw.2	+	10	2844	c.2844C>T	c.(2842-2844)ctC>ctT	p.L948L	IQSEC3_uc001qhu.1_Silent_p.L645L	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	948	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TGACCCCGCTCTCGGGCTCCG	0.612													4	51					0	0	1	0	0	T	274929	C	T	274929	2	4	105	1	0	0	0	0	0	0	0	1	7819	900	32	3		3	IQSEC3	12	274929	Silent	SNP	C	TCGA-DU-8162-01A-21D-2253-08		274929	133576966	23	4710											
RFX4	5992	broad.mit.edu	37	chr12	107090062	107090062	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctctgtgggtcaatacaggTtcaaagtttccttctgcact	8	15	8	10	0	4	0	2	0	2	0	6	0	5	0	1	2	2	3	1	2	3	4			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr12:107090062T>G	uc001tlt.3	+	8	837	c.697_splice	c.e8-1	p.V233_splice	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Splice_Site_p.V224_splice|RFX4_uc010swv.2_Intron|RFX4_uc001tls.3_Splice_Site_p.V233_splice|RFX4_uc001tlv.3_Splice_Site_p.V130_splice	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	224					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						TCAATACAGGTTCAAAGTTTC	0.552													13	62					0	0	1	0	0	G	107090062	T	G	107090062	5	3	105	1	0	0	0	0	0	0	1	0	13265	1739	60	5	874	5	RFX4	12	107090062	Splice_Site	SNP	T	TCGA-DU-8162-01A-21D-2253-08	106815133	107090062	26761833	24	4711											
NYNRIN	57523	broad.mit.edu	37	chr14	24884570	24884570	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agccagggcccccagtcaggGggtgacagcccctatgctgt	7	6	14	14	0	1	1	1	1	0	0	1	1	1	1	5	3	3	1	5	3	1	1			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr14:24884570G>A	uc001wpf.4	+	8	3933	c.3615G>A	c.(3613-3615)ggG>ggA	p.G1205G		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1205					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCCAGTCAGGGGGTGACAGCC	0.622													10	76					0	0	1	0	0	A	24884570	G	A	24884570	2	1	105	1	0	0	0	0	0	0	0	1	10796	1219	43	3		3	NYNRIN	14	24884570	Silent	SNP	G	TCGA-DU-8162-01A-21D-2253-08		24884570	82464970	25	4712											
C15orf55	256646	broad.mit.edu	37	chr15	34640382	34640382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgttggtgacaggggatgggGgcccttgcctcagtggggct	4	10	19	8	0	1	1	1	1	0	0	1	2	1	2	2	7	1	2	2	7	0	2			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr15:34640382G>A	uc010ucc.2	+	2	695	c.313G>A	c.(313-315)Ggc>Agc	p.G105S	C15orf55_uc010ucd.2_Missense_Mutation_p.G95S|C15orf55_uc001zif.3_Missense_Mutation_p.G77S	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	77	Pro-rich.					cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		AGGGGATGGGGGCCCTTGCCT	0.562			T	"BRD3, BRD4"	lethal midline carcinoma								6	131					0	0	1	0	0	A	34640382	G	A	34640382	3	1	105	1	0	0	0	0	1	0	0	0	1803	1232	43	3	235	3	C15orf55	15	34640382	Missense_Mutation	SNP	G	TCGA-DU-8162-01A-21D-2253-08		34640382	67891010	26	4713											
SPAG5	10615	broad.mit.edu	37	chr17	26939672	26939672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttttccctgccagctgtcccCcaagctgtgtacaaagggat	8	11	9	13	0	0	0	0	0	0	0	2	1	2	1	4	1	4	3	4	1	3	3			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr17:26939672C>T	uc010crq.2	-	4	543	c.511G>A	c.(511-513)Ggg>Agg	p.G171R	SPAG5_uc010waq.1_Intron|SPAG5-AS1_uc021tts.1_Intron|SPAG5_uc010war.1_Intron|SPAG5_uc021ttt.1_Missense_Mutation_p.G171R	NM_001174103	NP_001167574	Q96R06	SPAG5_HUMAN	Homo sapiens uncharacterized serine/threonine-protein kinase SgK494 (SGK494), mRNA.	0					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CAGCTGTCCCCCAAGCTGTGT	0.488													9	50					0	0	1	0	0	T	26939672	C	T	26939672	3	4	105	1	0	0	0	0	1	0	0	0	14981	623	22	3		3	SPAG5	17	26939672	Missense_Mutation	SNP	C	TCGA-DU-8162-01A-21D-2253-08		26939672	54255538	27	4714											
GIPC3	126326	broad.mit.edu	37	chr19	3589459	3589459	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatatgattggccagagaaGtcggtccagcaaatgtccag	13	8	12	8	1	0	3	0	1	0	2	3	4	2	3	3	2	1	1	3	2	3	2			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr19:3589459G>T	uc002lyd.4	+	3	638	c.611G>T	c.(610-612)aGt>aTt	p.S204I		NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 3 (GIPC3), mRNA.	204										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCAGAGAAGTCGGTCCAGC	0.597													4	72					0.0215528	0.0225107	1	1	0	T	3589459	G	T	3589459	3	4	105	1	0	0	0	0	1	0	0	0	6394	1029	36	5	625	5	GIPC3	19	3589459	Missense_Mutation	SNP	G	TCGA-DU-8162-01A-21D-2253-08		3589459	55539524	28	4715											
SLC1A6	6511	broad.mit.edu	37	chr19	15073150	15073150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccctcgtgctgtactgcGtcttgaactgaaatagagag	10	10	10	11	2	1	3	0	2	1	1	2	4	1	3	2	0	4	2	2	0	4	3			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr19:15073150G>A	uc002naa.1	-	4	606	c.599C>T	c.(598-600)aCg>aTg	p.T200M	SLC1A6_uc010dzu.1_Missense_Mutation_p.T200M|SLC1A6_uc010xod.1_Missense_Mutation_p.T136M|SLC1A6_uc002nab.3_Missense_Mutation_p.T200M|SLC1A6_uc002nac.3_Missense_Mutation_p.T200M	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	200					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GCTGTACTGCGTCTTGAACTG	0.532													15	88					0	0	1	0	0	A	15073150	G	A	15073150	3	1	105	1	0	0	0	0	1	0	0	0	14436	1145	40	1	1115	1	SLC1A6	19	15073150	Missense_Mutation	SNP	G	TCGA-DU-8162-01A-21D-2253-08	11483691	15073150	44055833	29	4716											
CYP4F12	66002	broad.mit.edu	37	chr19	15791263	15791263	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgtcggatgctgacgccCgccttccatttcaacatcct	7	10	7	17	4	1	1	1	1	0	0	4	2	3	2	5	1	2	1	5	1	1	2			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr19:15791263C>T	uc002nbl.3	+	4	578	c.459C>T	c.(457-459)ccC>ccT	p.P153P	CYP4F12_uc010xoo.2_Silent_p.P153P|CYP4F12_uc010xop.2_3'UTR	NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.									p.T152M(2)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					TGCTGACGCCCGCCTTCCATT	0.537													5	33					0	0	1	0	0	T	15791263	C	T	15791263	2	4	105	1	0	0	0	0	0	0	0	1	4187	639	23	2		2	CYP4F12	19	15791263	Silent	SNP	C	TCGA-DU-8162-01A-21D-2253-08	718113	15791263	43337720	30	4717											
ZNF681	148213	broad.mit.edu	37	chr19	23926839	23926839	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattcttcacatttgtaggAtttctctccagtatgaattc	10	17	5	9	0	3	1	1	1	2	0	6	2	4	2	1	1	0	2	1	1	3	7			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr19:23926839A>G	uc002nrk.4	-	3	1655	c.1513T>C	c.(1513-1515)Tcc>Ccc	p.S505P	ZNF681_uc002nrl.4_Missense_Mutation_p.S436P|ZNF681_uc002nrj.4_Missense_Mutation_p.S436P	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	505					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CATTTGTAGGATTTCTCTCCA	0.373													3	30					0	0	1	0	0	G	23926839	A	G	23926839	3	3	105	1	0	0	0	0	1	0	0	0	18085	333	12	3	428	3	ZNF681	19	23926839	Missense_Mutation	SNP	A	TCGA-DU-8162-01A-21D-2253-08	8135576	23926839	35202144	31	4718											
ATP4A	495	broad.mit.edu	37	chr19	36046172	36046172	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgcccatggctactccgAtgtctgccttcttcagagct	6	12	9	14	2	3	1	1	0	2	1	4	3	4	1	3	1	4	2	3	1	1	3			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr19:36046172A>T	uc002oal.1	-	14	2251	c.2222T>A	c.(2221-2223)aTc>aAc	p.I741N	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	741					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GGCTACTCCGATGTCTGCCTT	0.587													11	61					0	0	1	0	0	T	36046172	A	T	36046172	3	4	105	1	0	0	0	0	1	0	0	0	1145	333	12	5	917	5	ATP4A	19	36046172	Missense_Mutation	SNP	A	TCGA-DU-8162-01A-21D-2253-08	12119333	36046172	23082811	32	4719											
RRAS	6237	broad.mit.edu	37	chr19	50140129	50140129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaagccgtggccagcaCgcatgtactgctctctcatg	8	8	12	13	2	2	0	1	0	1	0	3	1	2	1	2	2	4	5	2	2	2	1			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr19:50140129C>T	uc002pop.1	-	2	341	c.296G>A	c.(295-297)cGt>cAt	p.R99H		NM_006270	NP_006261	P10301	RRAS_HUMAN	Homo sapiens related RAS viral (r-ras) oncogene homolog (RRAS), mRNA.	99					Ras protein signal transduction|axon guidance|synaptic transmission	intracellular|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(2)	6				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		GTGGCCAGCACGCATGTACTG	0.667													15	131					0	0	1	0	0	T	50140129	C	T	50140129	3	4	105	1	0	0	0	0	1	0	0	0	13676	536	19	1	376	1	RRAS	19	50140129	Missense_Mutation	SNP	C	TCGA-DU-8162-01A-21D-2253-08	14093957	50140129	8988854	33	4720											
RTN4R	65078	broad.mit.edu	37	chr22	20229976	20229976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagatagagtgtcatgaggCggccaaggtcacggaaggca	13	5	15	8	2	2	3	2	1	0	2	2	4	2	4	1	5	0	1	1	5	3	1	rs139685891		TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr22:20229976C>T	uc002zrv.3	-	1	881	c.680G>A	c.(679-681)cGc>cAc	p.R227H	RTN4R_uc002zru.3_5'UTR	NM_023004	NP_075380	Q9BZR6	RTN4R_HUMAN	Homo sapiens reticulon 4 receptor (RTN4R), mRNA.	227					axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					TGTCATGAGGCGGCCAAGGTC	0.642													6	69					0	0	1	0	0	T	20229976	C	T	20229976	3	4	105	1	0	0	0	0	1	0	0	0	13730	768	27	1	745	1	RTN4R	22	20229976	Missense_Mutation	SNP	C	TCGA-DU-8162-01A-21D-2253-08		20229976	31074590	34	4721											
GPRASP1	9737	broad.mit.edu	37	chrX	101912054	101912054	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataagcccctttagatttccGaaagaggcagcatctttatt	12	13	7	9	1	1	2	0	0	1	2	2	3	2	2	3	1	2	2	3	1	4	7			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chrX:101912054G>A	uc010nod.3	+	2	3855	c.3213G>A	c.(3211-3213)ccG>ccA	p.P1071P	ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Silent_p.P1071P|GPRASP1_uc004ejj.4_Silent_p.P1071P|GPRASP1_uc004eji.4_Silent_p.P1071P|GPRASP1_uc022cbd.1_Silent_p.P1071P	NM_001099411	NP_055525	Q5JY77	GASP1_HUMAN	Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA.	1071	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTAGATTTCCGAAAGAGGCAG	0.512													20	132					0	0	1	0	0	A	101912054	G	A	101912054	2	1	105	1	0	0	0	0	0	0	0	1	6722	1045	37	2		2	GPRASP1	23	101912054	Silent	SNP	G	TCGA-DU-8162-01A-21D-2253-08		101912054	53358506	35	4722											
SEPT6	23157	broad.mit.edu	37	chrX	118774683	118774683	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccccaaggatactgccgCgccctcatcatcttgttgcc	6	10	9	16	2	3	0	2	0	1	0	3	1	3	1	5	1	4	1	5	1	2	3	rs143382025		TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chrX:118774683C>T	uc004erv.3	-	5	1024	c.759G>A	c.(757-759)gcG>gcA	p.A253A	SEPT6_uc010nqk.3_Non-coding_Transcript|SEPT6_uc004ers.3_Silent_p.A253A|SEPT6_uc004ert.3_Silent_p.A253A|SEPT6_uc004eru.3_Silent_p.A253A|SEPT6_uc004erw.3_Silent_p.A195A|SEPT6_uc011mtv.1_Silent_p.A195A|SEPT6_uc011mtw.1_Silent_p.A283A	NM_015129	NP_055944	Q14141	SEPT6_HUMAN	Homo sapiens septin 6 (SEPT6), transcript variant II, mRNA.	253					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding	p.A253A(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						GATACTGCCGCGCCCTCATCA	0.547			T	MLL	AML								17	128					0	0	1	0	0	T	118774683	C	T	118774683	2	4	105	1	0	0	0	0	0	0	0	1	14068	755	27	1		1	SEPT6	23	118774683	Silent	SNP	C	TCGA-DU-8162-01A-21D-2253-08	16862629	118774683	36495877	36	4723											
GABRE	2564	broad.mit.edu	37	chrX	151123279	151123279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagacatggatgcagaggCggccctgctgccaggtactg	8	7	16	10	1	0	2	0	0	0	2	0	3	0	3	2	5	4	4	2	5	2	2	rs80186670	byFrequency	TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chrX:151123279C>T	uc004ffi.3	-	8	1469	c.1415G>A	c.(1414-1416)cGc>cAc	p.R472H	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_Non-coding_Transcript	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	472					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.R359H(1)|p.R472H(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GATGCAGAGGCGGCCCTGCTG	0.522													6	74					0	0	1	0	0	T	151123279	C	T	151123279	3	4	105	1	0	0	0	0	1	0	0	0	6170	768	27	1	109	1	GABRE	23	151123279	Missense_Mutation	SNP	C	TCGA-DU-8162-01A-21D-2253-08	32348596	151123279	4147281	37	4724											
CLCNKA	1187	broad.mit.edu	37	chr1	16352610	16352610	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctggctaaggttctggAatcccggagctgaagaccat	9	10	12	10	1	2	2	0	1	2	1	3	4	3	4	2	4	1	3	2	4	3	2			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr1:16352610A>G	uc001axu.3	+	4	446	c.366A>G	c.(364-366)ggA>ggG	p.G122G	CLCNKA_uc001axt.3_Non-coding_Transcript|CLCNKA_uc010obw.2_Silent_p.G79G|CLCNKA_uc001axv.3_Silent_p.G122G|CLCNKA_uc010obx.1_5'Flank|CLCNKA_uc010oby.1_5'Flank	NM_004070	NP_004061	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA.	122					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	AAGGTTCTGGAATCCCGGAGC	0.552													49	338					0	0	1	0	0	G	16352610	A	G	16352610	2	3	106	1	0	0	0	0	0	0	0	1	3469	233	9	3		3	CLCNKA	1	16352610	Silent	SNP	A	TCGA-DU-8163-01A-11D-2253-08		16352610	232898011	1	4725											
CAPN2	824	broad.mit.edu	37	chr1	223900426	223900426	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacagggccatcaagtacctCaaccaggactacgaggcgct	12	5	11	13	2	2	0	2	0	0	0	2	3	2	1	3	3	3	2	3	3	4	2			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr1:223900426C>G	uc001hob.4	+	0	308	c.84C>G	c.(82-84)ctC>ctG	p.L28L	CAPN2_uc010puy.2_Intron	NM_001748	NP_001139540	P17655	CAN2_HUMAN	Homo sapiens calpain 2, (m/II) large subunit (CAPN2), transcript variant 1, mRNA.	28					proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TCAAGTACCTCAACCAGGACT	0.716													9	16					0	0	1	0	0	G	223900426	C	G	223900426	2	3	106	1	0	0	0	0	0	0	0	1	2627	813	29	5		5	CAPN2	1	223900426	Silent	SNP	C	TCGA-DU-8163-01A-11D-2253-08	207547816	223900426	25350195	2	4726											
OR2T12	127064	broad.mit.edu	37	chr1	248458716	248458716	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcaggaggaagtacatgggCctgtggagccggtggtccca	8	7	16	10	1	1	0	1	0	0	0	2	3	2	3	3	6	2	1	3	6	2	1			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr1:248458716C>T	uc010pzj.2	-	0	165	c.165G>A	c.(163-165)agG>agA	p.R55R		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H54Y(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			AGTACATGGGCCTGTGGAGCC	0.527													8	30					0	0	1	0	0	T	248458716	C	T	248458716	2	4	106	1	0	0	0	0	0	0	0	1	11019	738	26	3		3	OR2T12	1	248458716	Silent	SNP	C	TCGA-DU-8163-01A-11D-2253-08	24558290	248458716	791905	3	4727											
DYNC2LI1	51626	broad.mit.edu	37	chr2	44028017	44028017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctctattactaaaaatacGtggagttatcaaccagttgg	14	12	8	7	1	2	0	1	0	1	0	2	1	2	1	1	2	4	3	1	2	8	6	rs141895414		TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr2:44028017G>A	uc002rtl.3	+	8	795	c.695G>A	c.(694-696)cGt>cAt	p.R232H	DYNC2LI1_uc002rtk.3_Missense_Mutation_p.R231H|DYNC2LI1_uc010ynz.2_Missense_Mutation_p.R105H|DYNC2LI1_uc021vgq.1_Missense_Mutation_p.R105H	NM_001193464	NP_001180393	Q8TCX1	DC2L1_HUMAN	Homo sapiens dynein, cytoplasmic 2, light intermediate chain 1 (DYNC2LI1), transcript variant 4, mRNA.	231						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTAAAAATACGTGGAGTTATC	0.313													5	37					0	0	1	0	0	A	44028017	G	A	44028017	3	1	106	1	0	0	0	0	1	0	0	0	4847	1145	40	1	825	1	DYNC2LI1	2	44028017	Missense_Mutation	SNP	G	TCGA-DU-8163-01A-11D-2253-08		44028017	199171356	4	4728											
FAHD2A	51011	broad.mit.edu	37	chr2	96071501	96071501	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaccccacactcccgaagacGatgacgcagttcctagagca	12	5	9	15	3	0	3	0	1	0	2	2	6	2	3	4	0	1	3	4	0	2	2			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr2:96071501G>A	uc002sur.3	+	1	374	c.195G>A	c.(193-195)acG>acA	p.T65T		NM_016044	NP_057128	Q96GK7	FAH2A_HUMAN	Homo sapiens fumarylacetoacetate hydrolase domain containing 2A (FAHD2A), mRNA.	65							hydrolase activity|metal ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						TCCCGAAGACGATGACGCAGT	0.617													7	27					0	0	1	0	0	A	96071501	G	A	96071501	2	1	106	1	0	0	0	0	0	0	0	1	5373	1045	37	2		2	FAHD2A	2	96071501	Silent	SNP	G	TCGA-DU-8163-01A-11D-2253-08	52043484	96071501	147127872	5	4729											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								21	58					0	0	1	0	0	T	209113112	C	T	209113112	3	4	106	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-8163-01A-11D-2253-08	113041611	209113112	34086261	6	4730											
XIRP1	165904	broad.mit.edu	37	chr3	39227182	39227182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taggaggaggaggaacaaagGcattatgggggtgcgggctg	11	6	20	4	1	0	0	0	0	0	0	0	4	0	4	0	8	2	2	0	8	4	2			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr3:39227182G>A	uc003cjk.2	-	1	3984	c.3755C>T	c.(3754-3756)gCc>gTc	p.A1252V	XIRP1_uc003cji.3_Intron|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.A1252V	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1252	Pro-rich.						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AGGAACAAAGGCATTATGGGG	0.622													10	25					0	0	1	0	0	A	39227182	G	A	39227182	3	1	106	1	0	0	0	0	1	0	0	0	17426	1203	42	3	1780	3	XIRP1	3	39227182	Missense_Mutation	SNP	G	TCGA-DU-8163-01A-11D-2253-08		39227182	158795248	7	4731											
TRH	7200	broad.mit.edu	37	chr3	129695840	129695840	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaggagctgggaagaagaGgaggaggaggaagagagaga	18	1	20	2	0	0	4	0	0	0	4	0	12	0	10	0	6	1	1	0	6	4	0			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr3:129695840G>A	uc003enc.3	+	2	1071	c.510G>A	c.(508-510)gaG>gaA	p.E170E		NM_007117	NP_009048	P20396	TRH_HUMAN	Homo sapiens thyrotropin-releasing hormone (TRH), mRNA.	170					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	p.E170E(2)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						Gggaagaagaggaggaggagg	0.642													4	64					0	0	1	0	0	A	129695840	G	A	129695840	2	1	106	1	0	0	0	0	0	0	0	1	16475	991	35	3		3	TRH	3	129695840	Silent	SNP	G	TCGA-DU-8163-01A-11D-2253-08	90468658	129695840	68326590	8	4732											
DLG1	1739	broad.mit.edu	37	chr3	196812552	196812552	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaagcattaataacatggagGatatctccaaatttgaagtt	16	12	8	5	0	1	1	0	1	1	0	2	4	1	3	1	2	2	2	1	2	6	5			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr3:196812552G>A	uc010ial.3	-	16	2095	c.1836C>T	c.(1834-1836)atC>atT	p.I612I	DLG1_uc011bub.2_Silent_p.I496I|DLG1_uc011buc.2_Silent_p.I496I|DLG1_uc011bud.2_Silent_p.I295I|DLG1_uc003fxo.4_Silent_p.I612I|DLG1_uc003fxn.4_Silent_p.I612I|DLG1_uc011bue.2_Silent_p.I579I|DLG1_uc011buf.1_Non-coding_Transcript|DLG1_uc003fxp.2_Non-coding_Transcript|DLG1_uc010iam.1_Silent_p.I579I	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	Homo sapiens discs, large homolog 1 (Drosophila) (DLG1), transcript variant 1, mRNA.	612	SH3.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	MPP7-DLG1-LIN7 complex|basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	L27 domain binding|cytoskeletal protein binding|guanylate kinase activity|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein C-terminus binding|protein binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TAACATGGAGGATATCTCCAA	0.448													6	97					0	0	1	0	0	A	196812552	G	A	196812552	2	1	106	1	0	0	0	0	0	0	0	1	4554	1164	41	3		3	DLG1	3	196812552	Silent	SNP	G	TCGA-DU-8163-01A-11D-2253-08	67116712	196812552	1209878	9	4733											
IRX4	50805	broad.mit.edu	37	chr5	1879669	1879671	+	In_Frame_Del	DEL	CCT	CCT	-																															ccgcgcctcctcctcgccccCctcctcctcctcgccctccg																										TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr5:1879669_1879671delCCT	uc003jcz.2	-	3	802_804	c.683_685delAGG	c.(682-687)gagggg>ggg	p.E228del	IRX4_uc011cmf.1_In_Frame_Del_p.E89del	NM_016358	NP_057442	P78413	IRX4_HUMAN	Homo sapiens iroquois homeobox 4 (IRX4), mRNA.	228	Poly-Glu.				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		tcctcgcccccctcctcctcctc	0.685													7	52	---	---	---	---						-	1879671	CCT	-	1879669	7	5	106	1	0	1	0	1	0	0	0	0	7846	623	22	0	882	0	IRX4	5	1879669	In_Frame_Del	DEL	CCT	TCGA-DU-8163-01A-11D-2253-08		1879669	179035591	10	4734											
HIST1H2BB	3018	broad.mit.edu	37	chr6	26043861	26043861	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agaaccctttttaggggctgGagcagacttagagggttcag	10	10	14	7	0	1	3	1	0	0	3	1	4	1	4	1	4	2	3	1	4	3	5			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr6:26043861G>C	uc003nfu.3	-	0	25	c.25C>G	c.(25-27)Cca>Gca	p.P9A	HIST1H3C_uc003nfv.3_5'Flank	NM_021062	NP_066406	P33778	H2B1B_HUMAN	Homo sapiens histone cluster 1, H2bb (HIST1H2BB), mRNA.	9					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						TTAGGGGCTGGAGCAGACTTA	0.458													4	46					0	0	1	0	0	C	26043861	G	C	26043861	3	2	106	1	0	0	0	0	1	0	0	0	7141	1174	41	5	359	5	HIST1H2BB	6	26043861	Missense_Mutation	SNP	G	TCGA-DU-8163-01A-11D-2253-08		26043861	145071206	11	4735											
RUNX2	860	broad.mit.edu	37	chr6	45390463	45390463	+	Silent	SNP	G	G	A																															caacagcagcagcagcagcaGcaacagcagcagcagcagca																										TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr6:45390463G>A	uc011dvx.2	+	2	402	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_uc011dvy.2_Silent_p.Q64Q|RUNX2_uc003oxt.3_Silent_p.Q50Q	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	64	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736													4	34					0	0	1	0	0	A	45390463	G	A	45390463	2	1	106	1	0	0	0	0	0	0	0	1	13748	962	34	3		3	RUNX2	6	45390463	Silent	SNP	G	TCGA-DU-8163-01A-11D-2253-08	19346602	45390463	125724604	12	4736	20	2									
RUNX2	860	broad.mit.edu	37	chr6	45390466	45390466	+	Silent	SNP	A	A	G																															cagcagcagcagcagcagcaAcagcagcagcagcagcagga																										TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr6:45390466A>G	uc011dvx.2	+	2	405	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_uc011dvy.2_Silent_p.Q65Q|RUNX2_uc003oxt.3_Silent_p.Q51Q	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	65	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													3	31					0	0	1	0	0	G	45390466	A	G	45390466	2	3	106	1	0	0	0	0	0	0	0	1	13748	40	2	3		3	RUNX2	6	45390466	Silent	SNP	A	TCGA-DU-8163-01A-11D-2253-08	3	45390466	125724601	13	4737	20	2									
OR10A4	283297	broad.mit.edu	37	chr11	6898019	6898019	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atgggcaatgtcctcatcatCctggtcactatagctgactc	9	12	8	12	0	3	1	3	1	0	0	6	1	5	1	2	2	1	2	2	2	3	2			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr11:6898019C>G	uc010rat.2	+	0	164	c.141C>G	c.(139-141)atC>atG	p.I47M		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 4 (OR10A4), mRNA.	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCCTCATCATCCTGGTCACTA	0.453													9	125					0	0	1	0	0	G	6898019	C	G	6898019	3	3	106	1	0	0	0	0	1	0	0	0	10892	845	30	5	143	5	OR10A4	11	6898019	Missense_Mutation	SNP	C	TCGA-DU-8163-01A-11D-2253-08		6898019	128108497	14	4738											
MICALCL	84953	broad.mit.edu	37	chr11	12315446	12315446	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctggagaagaccgggaaaaAgggagtactggagccaggaa	15	3	17	6	1	0	2	0	0	0	2	0	7	0	6	2	5	2	2	2	5	5	1			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr11:12315446A>G	uc001mkg.1	+	2	759	c.468A>G	c.(466-468)aaA>aaG	p.K156K		NM_032867	NP_116256	Q6ZW33	MICLK_HUMAN	Homo sapiens MICAL C-terminal like (MICALCL), mRNA.	156					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		ACCGGGAAAAAGGGAGTACTG	0.562													3	37					0	0	1	0	0	G	12315446	A	G	12315446	2	3	106	1	0	0	0	0	0	0	0	1	9572	69	3	4		4	MICALCL	11	12315446	Silent	SNP	A	TCGA-DU-8163-01A-11D-2253-08	5417427	12315446	122691070	15	4739											
GLI1	2735	broad.mit.edu	37	chr12	57861814	57861814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctccctggctgcaccaaacGctatacagatcctagctcgc	9	8	8	16	2	0	1	0	0	0	1	3	1	2	1	3	1	4	5	3	1	4	3			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr12:57861814G>A	uc001snx.3	+	9	1209	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	GLI1_uc021qzi.1_Missense_Mutation_p.R331H|GLI1_uc009zpq.3_Missense_Mutation_p.R244H	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	372					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TGCACCAAACGCTATACAGAT	0.542													10	91					0	0	1	0	0	A	57861814	G	A	57861814	3	1	106	1	0	0	0	0	1	0	0	0	6437	1087	38	1	1149	1	GLI1	12	57861814	Missense_Mutation	SNP	G	TCGA-DU-8163-01A-11D-2253-08		57861814	75990081	16	4740											
TJP1	7082	broad.mit.edu	37	chr15	30001004	30001004	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacttgcgttcaaatggtcGggcagaacttgtatatggtt	11	13	11	6	2	1	1	1	0	0	1	2	1	1	1	0	3	3	4	0	3	5	6			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr15:30001004G>A	uc001zcr.3	-	24	5084	c.4609C>T	c.(4609-4611)Cga>Tga	p.R1537*	TJP1_uc010azl.3_Nonsense_Mutation_p.R1525*|TJP1_uc001zcq.3_Nonsense_Mutation_p.R1461*|TJP1_uc001zcs.3_Nonsense_Mutation_p.R1457*	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	1537					cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction		p.R1537R(3)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TCAAATGGTCGGGCAGAACTT	0.403													71	160					0	0	1	0	0	A	30001004	G	A	30001004	4	1	106	1	0	0	0	0	0	1	0	0	15926	1124	39	2	653	2	TJP1	15	30001004	Nonsense_Mutation	SNP	G	TCGA-DU-8163-01A-11D-2253-08		30001004	72530388	17	4741											
GCNT3	9245	broad.mit.edu	37	chr15	59911328	59911328	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actatgtttacagggaatgcGtacattgtggcttcccgaga	10	12	11	8	2	0	1	0	0	0	1	1	3	1	2	1	2	3	3	1	2	4	6	rs139760962		TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr15:59911328G>A	uc002age.3	+	2	1340	c.891G>A	c.(889-891)gcG>gcA	p.A297A	GCNT3_uc002agd.3_Silent_p.A297A|GCNT3_uc021smz.1_Silent_p.A297A	NM_004751	NP_004742	O95395	GCNT3_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 3, mucin type (GCNT3), mRNA.	297					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGGGAATGCGTACATTGTGG	0.408													21	146					0	0	1	0	0	A	59911328	G	A	59911328	2	1	106	1	0	0	0	0	0	0	0	1	6302	1132	40	1		1	GCNT3	15	59911328	Silent	SNP	G	TCGA-DU-8163-01A-11D-2253-08	29910324	59911328	42620064	18	4742											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr17:7577120C>A	uc002gim.2	-	7	1012	c.818G>T	c.(817-819)cGt>cTt	p.R273L	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141L|TP53_uc010cnf.1_Missense_Mutation_p.R141L|TP53_uc002gii.1_Missense_Mutation_p.R141L|TP53_uc010cni.1_Missense_Mutation_p.R273L|TP53_uc010cnh.1_Missense_Mutation_p.R273L|TP53_uc002gij.2_Missense_Mutation_p.R273L|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			15	10					1.5739e-10	1.67544e-10	1	1	0	A	7577120	C	A	7577120	3	1	106	1	0	0	0	0	1	0	0	0	16378	536	19	5	468	5	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-DU-8163-01A-11D-2253-08		7577120	73618090	19	4743											
MED9	55090	broad.mit.edu	37	chr17	17394705	17394707	+	In_Frame_Del	DEL	CAG	CAG	-																															gcatccacctgagccccgaaCagcagcagcagcagctgcag																										TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr17:17394705_17394707delCAG	uc002grh.1	+	1	393_395	c.337_339delCAG	c.(337-339)cagdel	p.Q117del		NM_018019	NP_060489	Q9NWA0	MED9_HUMAN	Homo sapiens mediator complex subunit 9 (MED9), mRNA.	117					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGCCCCGAACAGCAGCAGCAGC	0.581													7	175	---	---	---	---						-	17394707	CAG	-	17394705	7	5	106	1	0	1	0	1	0	0	0	0	9454	479	17	0	343	0	MED9	17	17394705	In_Frame_Del	DEL	CAG	TCGA-DU-8163-01A-11D-2253-08	9817585	17394705	63800505	20	4744											
MAPK7	5598	broad.mit.edu	37	chr17	19283952	19283952	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacctgatggaaagcgacCtgcaccagatcatccactcc	11	7	9	14	1	1	2	1	1	0	1	3	5	3	4	5	2	2	1	5	2	1	0			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr17:19283952C>G	uc002gvn.3	+	3	816	c.430C>G	c.(430-432)Ctg>Gtg	p.L144V	B9D1_uc010cqm.1_5'Flank|MAPK7_uc002gvo.3_Missense_Mutation_p.L5V|MAPK7_uc002gvq.3_Missense_Mutation_p.L144V|MAPK7_uc002gvp.3_Missense_Mutation_p.L144V	NM_139033	NP_620601	Q13164	MK07_HUMAN	Homo sapiens mitogen-activated protein kinase 7 (MAPK7), transcript variant 1, mRNA.	144	Necessary for oligomerization (By similarity).|Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cell cycle|cell differentiation|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GGAAAGCGACCTGCACCAGAT	0.582													14	91					0	0	1	0	0	G	19283952	C	G	19283952	3	3	106	1	0	0	0	0	1	0	0	0	9282	680	24	5	440	5	MAPK7	17	19283952	Missense_Mutation	SNP	C	TCGA-DU-8163-01A-11D-2253-08	1889247	19283952	61911258	21	4745											
MAPK7	5598	broad.mit.edu	37	chr17	19284535	19284535	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccagcgctcgcatctcagCagctgctgcccttcgccacc	5	7	9	20	3	1	0	1	0	1	0	4	0	1	0	4	0	5	5	4	0	0	1			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr17:19284535C>T	uc002gvn.3	+	3	1399	c.1013C>T	c.(1012-1014)gCa>gTa	p.A338V	MAPK7_uc002gvo.3_Missense_Mutation_p.A199V|MAPK7_uc002gvq.3_Missense_Mutation_p.A338V|MAPK7_uc002gvp.3_Missense_Mutation_p.A338V	NM_139033	NP_620601	Q13164	MK07_HUMAN	Homo sapiens mitogen-activated protein kinase 7 (MAPK7), transcript variant 1, mRNA.	338	Necessary for oligomerization (By similarity).|Poly-Ala.|Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cell cycle|cell differentiation|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CGCATCTCAGCAGCTGCTGCC	0.622													6	72					0	0	1	0	0	T	19284535	C	T	19284535	3	4	106	1	0	0	0	0	1	0	0	0	9282	710	25	3	1023	3	MAPK7	17	19284535	Missense_Mutation	SNP	C	TCGA-DU-8163-01A-11D-2253-08	583	19284535	61910675	22	4746											
MYO18A	399687	broad.mit.edu	37	chr17	27434129	27434129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaccacgatgtagttacgcCcgtgtttcttggtcaggtgc	6	12	11	12	3	2	0	1	0	1	0	2	1	2	0	3	2	2	3	3	2	2	4			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr17:27434129C>T	uc002hdt.1	-	19	3568	c.3410G>A	c.(3409-3411)gGg>gAg	p.G1137E	MYO18A_uc010wbc.1_Missense_Mutation_p.G679E|MYO18A_uc002hds.2_Missense_Mutation_p.G679E|MYO18A_uc010csa.1_Missense_Mutation_p.G1137E|MYO18A_uc002hdu.1_Missense_Mutation_p.G1137E|MYO18A_uc010wbd.1_Missense_Mutation_p.G806E	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	1137	Myosin head-like.				DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GTAGTTACGCCCGTGTTTCTT	0.612													41	119					0	0	1	0	0	T	27434129	C	T	27434129	3	4	106	1	0	0	0	0	1	0	0	0	10065	623	22	3	2846	3	MYO18A	17	27434129	Missense_Mutation	SNP	C	TCGA-DU-8163-01A-11D-2253-08	8149594	27434129	53761081	23	4747											
ACE	1636	broad.mit.edu	37	chr17	61557164	61557164	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggcttcctcgcgaagctaCgccatgctcctgtttgcctg	4	12	10	15	3	0	0	0	0	0	0	3	1	2	0	4	1	4	4	4	1	2	3			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr17:61557164C>T	uc002jau.2	+	3	580	c.546C>T	c.(544-546)taC>taT	p.Y182Y	ACE_uc010wpi.2_Silent_p.Y182Y|ACE_uc010ddu.2_5'UTR	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	182	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CGCGAAGCTACGCCATGCTCC	0.592													7	164					0	0	1	0	0	T	61557164	C	T	61557164	2	4	106	1	0	0	0	0	0	0	0	1	136	547	19	1		1	ACE	17	61557164	Silent	SNP	C	TCGA-DU-8163-01A-11D-2253-08	34123035	61557164	19638046	24	4748											
KCTD1	284252	broad.mit.edu	37	chr18	24128262	24128264	+	In_Frame_Del	DEL	TCC	TCC	-																															cctccagccccccacctccgTcctcctcctcctcctcgtcc																										TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr18:24128262_24128264delTCC	uc010xbj.2	-	0	237_239	c.237_239delGGA	c.(235-240)gaggac>gac	p.E79del	KCTD1_uc002kvw.3_Intron|KCTD1_uc010xbk.2_Intron	NM_001142730	NP_001136202	Q719H9	KCTD1_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 1 (KCTD1), transcript variant 3, mRNA.	0	BTB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			cccacctccgtcctcctcctcct	0.69													3	5	---	---	---	---						-	24128264	TCC	-	24128262	7	5	106	1	0	1	0	1	0	0	0	0	8096	1667	58	0	2378	0	KCTD1	18	24128262	In_Frame_Del	DEL	TCC	TCGA-DU-8163-01A-11D-2253-08		24128262	53948986	25	4749											
ATRX	546	broad.mit.edu	37	chrX	76814188	76814188	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttagtttgtccaaagcgAtaaactctgaatatactctg	12	13	8	8	1	2	1	0	1	2	0	3	2	3	1	1	1	3	2	1	1	7	5			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chrX:76814188A>C	uc004ecp.4	-	28	6688	c.6456T>G	c.(6454-6456)taT>taG	p.Y2152*	ATRX_uc004ecq.4_Nonsense_Mutation_p.Y2114*|ATRX_uc004eco.4_Nonsense_Mutation_p.Y1937*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2152	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GTCCAAAGCGATAAACTCTGA	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						7	36					0	0	1	0	0	C	76814188	A	C	76814188	4	2	106	1	0	0	0	0	0	1	0	0	1208	340	12	5	1050	5	ATRX	23	76814188	Nonsense_Mutation	SNP	A	TCGA-DU-8163-01A-11D-2253-08		76814188	78456372	26	4750											
C1orf173	127254	broad.mit.edu	37	chr1	75038852	75038852	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccttcacccagccttctgaCcccttctgcttctgctgctc	3	13	5	20	0	4	1	1	1	3	0	5	1	4	1	5	0	4	3	5	0	0	4			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr1:75038852C>A	uc001dgg.3	-	13	2761	c.2542G>T	c.(2542-2544)Gtc>Ttc	p.V848F		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	848	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AGCCTTCTGACCCCTTCTGCT	0.532													23	27					1.50538e-07	1.68043e-07	1	1	0	A	75038852	C	A	75038852	3	1	107	1	0	0	0	0	1	0	0	0	2014	507	18	5	2054	5	C1orf173	1	75038852	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08		75038852	174211769	1	4751											
FUBP1	8880	broad.mit.edu	37	chr1	78430888	78430888	+	Frame_Shift_Del	DEL	A	A	-																															gctggtcttcctttttcaacAatctggtccagtaaccgttt																										TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr1:78430888delA	uc001dii.3	-	7	590	c.501delT	c.(499-501)attfs	p.I167fs	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Frame_Shift_Del_p.I188fs	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	167					transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CTTTTTCAACAATCTGGTCCA	0.393			"F, N"		oligodendroglioma								53	7	---	---	---	---						-	78430888	A	-	78430888	7	5	107	1	0	1	0	1	0	0	0	0	6092	126	5	0	1485	0	FUBP1	1	78430888	Frame_Shift_Del	DEL	A	TCGA-DU-8164-01A-11D-2253-08	3392036	78430888	170819733	2	4752											
NUP210L	91181	broad.mit.edu	37	chr1	154062058	154062058	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctggatgatttccaattcGgaatgtgagaacctttaagg	12	12	10	7	1	0	2	0	2	0	1	2	5	1	4	3	3	1	0	3	3	4	4			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr1:154062058G>A	uc001fdw.3	-	15	2272	c.2200C>T	c.(2200-2202)Cga>Tga	p.R734*	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Nonsense_Mutation_p.R734*	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	734						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTTCCAATTCGGAATGTGAGA	0.423													29	53					0	0	1	0	0	A	154062058	G	A	154062058	4	1	107	1	0	0	0	0	0	1	0	0	10761	1124	39	2	3566	2	NUP210L	1	154062058	Nonsense_Mutation	SNP	G	TCGA-DU-8164-01A-11D-2253-08	75631170	154062058	95188563	3	4753											
CACNA1E	777	broad.mit.edu	37	chr1	181549908	181549908	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggtggaccactgtgctgtAcaatgtgagtagagctggtg	9	10	16	6	0	0	2	0	1	0	1	0	3	0	3	1	3	3	4	1	3	3	2			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr1:181549908A>G	uc009wxt.3	+	5	1142	c.947A>G	c.(946-948)tAc>tGc	p.Y316C	CACNA1E_uc001gow.3_Missense_Mutation_p.Y316C|CACNA1E_uc009wxs.3_Missense_Mutation_p.Y316C|CACNA1E_uc009wxr.3_Missense_Mutation_p.Y223C	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	316					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACTGTGCTGTACAATGTGAGT	0.552													3	36					0	0	1	0	0	G	181549908	A	G	181549908	3	3	107	1	0	0	0	0	1	0	0	0	2542	391	14	3	969	3	CACNA1E	1	181549908	Missense_Mutation	SNP	A	TCGA-DU-8164-01A-11D-2253-08	27487850	181549908	67700713	4	4754											
TTN	7273	broad.mit.edu	37	chr2	179435704	179435704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaaactggctttcatccaaCggccctcaggtaattctttc	10	13	6	12	1	3	0	2	0	1	0	5	0	4	0	2	3	2	2	2	3	4	5			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr2:179435704C>T	uc021vsy.1	-	274	67676	c.67451G>A	c.(67450-67452)cGt>cAt	p.R22484H	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R16179H|TTN_uc021vta.1_Missense_Mutation_p.R16112H|TTN_uc021vtb.1_Missense_Mutation_p.R15987H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23411	Fibronectin type-III 63.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCATCCAACGGCCCTCAGG	0.408													83	123					0	0	1	0	0	T	179435704	C	T	179435704	3	4	107	1	0	0	0	0	1	0	0	0	16732	536	19	1	32972	1	TTN	2	179435704	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08		179435704	63763669	5	4755											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								28	54					0	0	1	0	0	T	209113112	C	T	209113112	3	4	107	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08	29677408	209113112	34086261	6	4756											
SETD2	29072	broad.mit.edu	37	chr3	47155394	47155394	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctttggcagctctcaagcCccagcctttcttttctgtga	5	15	8	13	0	4	1	1	1	4	0	5	1	4	1	3	1	3	2	3	1	1	4			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr3:47155394C>G	uc003cqv.3	-	4	4740	c.4654G>C	c.(4654-4656)Ggc>Cgc	p.G1552R	SETD2_uc003cqs.3_Missense_Mutation_p.G1563R	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1563	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GCTCTCAAGCCCCAGCCTTTC	0.428			"N, F, S, Mis"		clear cell renal carcinoma								23	48					0	0	1	0	0	G	47155394	C	G	47155394	3	3	107	1	0	0	0	0	1	0	0	0	14131	623	22	5	3075	5	SETD2	3	47155394	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08		47155394	150867036	7	4757											
PIK3CA	5290	broad.mit.edu	37	chr3	178928079	178928079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccagtacctcatggattaGaagatttgctgaaccctatt	11	12	9	9	0	1	3	1	1	0	2	1	4	1	4	3	2	3	2	3	2	5	5			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr3:178928079G>A	uc003fjk.3	+	7	1514	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	453	C2 PI3K-type.		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E453K(20)|p.E453Q(8)|p.P449_L455del(2)|p.G451_L456>V(2)|p.H450fs*9(1)|p.E453A(1)|p.E453del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCATGGATTAGAAGATTTGCT	0.348		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			41	52					0	0	1	0	0	A	178928079	G	A	178928079	3	1	107	1	0	0	0	0	1	0	0	0	11913	943	33	3	1383	3	PIK3CA	3	178928079	Missense_Mutation	SNP	G	TCGA-DU-8164-01A-11D-2253-08	131772685	178928079	19094351	8	4758											
IGJ	3512	broad.mit.edu	37	chr4	71527853	71527853	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtcctcattaggatcttcGgaagaacggatgatcctgga	11	11	11	8	2	2	2	1	1	1	1	5	6	4	6	2	4	1	0	2	4	3	2			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr4:71527853G>A	uc010ihz.3	-	2	333	c.192C>T	c.(190-192)tcC>tcT	p.S64S	IGJ_uc003hfn.4_Silent_p.S48S	NM_144646	NP_653247	P01591	IGJ_HUMAN	Homo sapiens immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides (IGJ), mRNA.	48					immune response	extracellular region	antigen binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			TAGGATCTTCGGAAGAACGGA	0.393													44	70					0	0	1	0	0	A	71527853	G	A	71527853	2	1	107	1	0	0	0	0	0	0	0	1	7592	1103	39	2		2	IGJ	4	71527853	Silent	SNP	G	TCGA-DU-8164-01A-11D-2253-08		71527853	119626423	9	4759											
PDGFC	56034	broad.mit.edu	37	chr4	157689077	157689077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagttcttcccttatggacaCtgagaagttacgaggtgtgc	9	13	11	8	1	1	1	0	1	1	1	2	4	2	2	1	2	2	2	1	2	4	5			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr4:157689077C>T	uc003iph.2	-	4	1260	c.769G>A	c.(769-771)Gtg>Atg	p.V257M	PDGFC_uc003ipi.2_Missense_Mutation_p.V94M|PDGFC_uc011cis.2_Missense_Mutation_p.V94M|PDGFC_uc011cir.2_Missense_Mutation_p.V101M	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	Homo sapiens platelet derived growth factor C (PDGFC), transcript variant 1, mRNA.	257					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of DNA replication|positive regulation of cell division|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	Golgi membrane|endoplasmic reticulum lumen|extracellular space|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		CTTATGGACACTGAGAAGTTA	0.428													15	159					0	0	1	0	0	T	157689077	C	T	157689077	3	4	107	1	0	0	0	0	1	0	0	0	11659	565	20	3	276	3	PDGFC	4	157689077	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08	86161224	157689077	33465199	10	4760											
ARSK	153642	broad.mit.edu	37	chr5	94918892	94918892	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttcacacatctctttattGgcttgaaaaagtaagtaact	14	15	5	7	0	2	1	1	1	1	0	3	1	2	1	0	1	1	3	0	1	5	7			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr5:94918892G>T	uc003kld.3	+	3	847	c.689G>T	c.(688-690)tGg>tTg	p.W230L	ARSK_uc010jbg.3_Missense_Mutation_p.W71L|ARSK_uc011cum.2_Non-coding_Transcript	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN	Homo sapiens arylsulfatase family, member K (ARSK), mRNA.	230						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TCTCTTTATTGGCTTGAAAAA	0.313													13	29					2.32078e-09	2.65233e-09	1	1	0	T	94918892	G	T	94918892	3	4	107	1	0	0	0	0	1	0	0	0	996	1357	47	5	703	5	ARSK	5	94918892	Missense_Mutation	SNP	G	TCGA-DU-8164-01A-11D-2253-08		94918892	85996368	11	4761											
ODZ2	57451	broad.mit.edu	37	chr5	167674704	167674704	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatgacctccgggatcggAtaaccagactcggggatgtg	9	8	14	10	3	0	2	0	1	0	1	3	5	1	5	3	4	1	1	3	4	2	2			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr5:167674704A>G	uc010jjd.3	+	26	6733	c.6733A>G	c.(6733-6735)Ata>Gta	p.I2245V	ODZ2_uc003lzr.4_Missense_Mutation_p.I2015V|ODZ2_uc003lzt.4_Missense_Mutation_p.I1618V|ODZ2_uc010jje.3_Missense_Mutation_p.I1509V	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CCGGGATCGGATAACCAGACT	0.527													27	45					0	0	1	0	0	G	167674704	A	G	167674704	3	3	107	1	0	0	0	0	1	0	0	0	10835	333	12	3	6839	3	ODZ2	5	167674704	Missense_Mutation	SNP	A	TCGA-DU-8164-01A-11D-2253-08	72755812	167674704	13240556	12	4762											
HIST1H4B	8366	broad.mit.edu	37	chr6	26027273	26027273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctccgtgtaggtcacggCgtcccggatcacgttctcca	5	10	12	14	5	3	0	2	0	1	0	6	1	5	1	3	3	1	3	3	3	1	2			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr6:26027273C>T	uc003nfr.3	-	0	208	c.208G>A	c.(208-210)Gcc>Acc	p.A70T		NM_003544	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4b (HIST1H4B), mRNA.	70					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.A70S(2)		large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						TAGGTCACGGCGTCCCGGATC	0.577											OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	56					0	0	1	0	0	T	26027273	C	T	26027273	3	4	107	1	0	0	0	0	1	0	0	0	7166	768	27	1	107	1	HIST1H4B	6	26027273	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08		26027273	145087794	13	4763											
SCUBE3	222663	broad.mit.edu	37	chr6	35208200	35208200	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaccacatatgtgtcaaCacaccaggaagcttccagtg	12	9	9	11	0	1	1	1	1	0	0	2	2	2	2	3	1	2	1	3	1	3	2			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr6:35208200C>G	uc003okf.1	+	8	1008	c.1002C>G	c.(1000-1002)aaC>aaG	p.N334K	SCUBE3_uc003okg.1_Missense_Mutation_p.N333K|SCUBE3_uc003okh.1_Missense_Mutation_p.N221K	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA.	334	EGF-like 8; calcium-binding (Potential).				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						TATGTGTCAACACACCAGGAA	0.507													8	75					0	0	1	0	0	G	35208200	C	G	35208200	3	3	107	1	0	0	0	0	1	0	0	0	13946	477	17	5	1036	5	SCUBE3	6	35208200	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08	9180927	35208200	135906867	14	4764											
LRFN2	57497	broad.mit.edu	37	chr6	40400680	40400680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaagttgccgcccaggCgcagctccactgtccgccgg	6	7	13	15	4	0	2	0	2	0	0	2	2	2	2	5	2	2	3	5	2	1	1			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr6:40400680C>T	uc003oph.1	-	1	638	c.173G>A	c.(172-174)cGc>cAc	p.R58H		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	58						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCCGCCCAGGCGCAGCTCCAC	0.602													33	41					0	0	1	0	0	T	40400680	C	T	40400680	3	4	107	1	0	0	0	0	1	0	0	0	8938	768	27	1	2204	1	LRFN2	6	40400680	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08	5192480	40400680	130714387	15	4765											
MEP1A	4224	broad.mit.edu	37	chr6	46801256	46801256	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcatggtgttcactacctcGaagtcgcacacatctccagg	10	9	9	13	2	2	0	1	0	1	0	5	1	2	0	2	2	2	3	2	2	2	2			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr6:46801256G>A	uc011dwh.1	+	9	1682	c.1674G>A	c.(1672-1674)tcG>tcA	p.S558S	MEP1A_uc010jzh.1_Silent_p.S530S|MEP1A_uc011dwg.1_Silent_p.S252S|MEP1A_uc011dwi.1_Silent_p.S430S	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	530	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.S530S(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TCACTACCTCGAAGTCGCACA	0.517													16	155					0	0	1	0	0	A	46801256	G	A	46801256	2	1	107	1	0	0	0	0	0	0	0	1	9475	1045	37	2		2	MEP1A	6	46801256	Silent	SNP	G	TCGA-DU-8164-01A-11D-2253-08	6400576	46801256	124313811	16	4766											
KIFC2	90990	broad.mit.edu	37	chr8	145692175	145692176	+	Frame_Shift_Del	DEL	AG	AG	-																															ccccggggtcgccggcgcccAgacctgcccgcgccagagct																										TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr8:145692175_145692176delAG	uc003zcz.3	+	1	197_198	c.132_133delAG	c.(130-135)ccagacfs	p.P44fs	CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	Homo sapiens kinesin family member C2 (KIFC2), mRNA.	44					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GCCGGCGCCCAGACCTGCCCGC	0.777													2	4	---	---	---	---						-	145692176	AG	-	145692175	7	5	107	1	0	1	0	1	0	0	0	0	8313	175	7	0	138	0	KIFC2	8	145692175	Frame_Shift_Del	DEL	AG	TCGA-DU-8164-01A-11D-2253-08		145692175	671847	17	4767											
FANCC	2176	broad.mit.edu	37	chr9	98009714	98009714	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacgtttttgattcttacCatatgctaaaataaaaggat	15	14	6	6	1	1	1	0	1	1	0	1	3	1	2	1	1	2	2	1	1	6	7			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr9:98009714C>T	uc022bkl.1	-	3	454	c.250_splice	c.e3+1	p.D84_splice	FANCC_uc004avh.3_Splice_Site_p.D84_splice|FANCC_uc004avi.4_Splice_Site_p.D84_splice|FANCC_uc010mrm.1_Splice_Site|FANCC_uc011lul.1_Splice_Site	NM_001243743	NP_001230672	Q00597	FANCC_HUMAN	Homo sapiens Fanconi anemia, complementation group C (FANCC), transcript variant 2, mRNA.	84					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				TGATTCTTACCATATGCTAAA	0.323			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				20	67					0	0	1	0	0	T	98009714	C	T	98009714	5	4	107	1	0	0	0	0	0	0	1	0	5664	608	21	3	1478	3	FANCC	9	98009714	Splice_Site	SNP	C	TCGA-DU-8164-01A-11D-2253-08		98009714	43203717	18	4768											
NIPSNAP3B	55335	broad.mit.edu	37	chr9	107531159	107531159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catagataattttgctcatcGagctgaagttcggaaagcct	12	12	9	8	2	1	2	1	1	0	1	3	4	1	3	1	1	3	3	1	1	4	5	rs141198887	byFrequency	TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr9:107531159G>A	uc004bci.3	+	2	358	c.287G>A	c.(286-288)cGa>cAa	p.R96Q	NIPSNAP3B_uc011lvu.1_Intron|NIPSNAP3B_uc004bcj.1_Non-coding_Transcript	NM_018376	NP_060846	Q9BS92	NPS3B_HUMAN	Homo sapiens nipsnap homolog 3B (C. elegans) (NIPSNAP3B), mRNA.	96										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						TTTGCTCATCGAGCTGAAGTT	0.343													7	31					0	0	1	0	0	A	107531159	G	A	107531159	3	1	107	1	0	0	0	0	1	0	0	0	10431	1058	37	2	297	2	NIPSNAP3B	9	107531159	Missense_Mutation	SNP	G	TCGA-DU-8164-01A-11D-2253-08	9521445	107531159	33682272	19	4769											
OR4D10	390197	broad.mit.edu	37	chr11	59245678	59245678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccctgcatctatgtctatgCccggcccttcactgccctcc	4	11	7	19	1	3	0	1	0	2	0	4	0	4	0	5	1	3	1	5	1	2	3			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr11:59245678C>T	uc001nnz.1	+	0	776	c.776C>T	c.(775-777)gCc>gTc	p.A259V		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA.	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TATGTCTATGCCCGGCCCTTC	0.562													14	294					0	0	1	0	0	T	59245678	C	T	59245678	3	4	107	1	0	0	0	0	1	0	0	0	11054	739	26	3	778	3	OR4D10	11	59245678	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08		59245678	75760838	20	4770											
VEGFB	7423	broad.mit.edu	37	chr11	64005040	64005040	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaccaccagcgccctgAcccccggacctgccgctgcc	6	3	9	23	3	0	1	0	1	0	0	0	2	0	2	9	1	4	2	9	1	0	0			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr11:64005040A>C	uc001nyw.3	+	5	809	c.559A>C	c.(559-561)Acc>Ccc	p.T187P	VEGFB_uc001nyx.3_Missense_Mutation_p.D153A	NM_003377	NP_003368	P49765	VEGFB_HUMAN	Homo sapiens vascular endothelial growth factor B (VEGFB), transcript variant VEGFB-186, mRNA.	187					anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6						CAGCGCCCTGACCCCCGGACC	0.706													4	9					0	0	1	0	0	C	64005040	A	C	64005040	3	2	107	1	0	0	0	0	1	0	0	0	17148	275	10	5	581	5	VEGFB	11	64005040	Missense_Mutation	SNP	A	TCGA-DU-8164-01A-11D-2253-08	4759362	64005040	71001476	21	4771											
PTPRO	5800	broad.mit.edu	37	chr12	15654567	15654567	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacagccccttatccaccTcaaaatatttccgttcgtat	10	14	3	14	2	1	0	1	0	0	0	4	0	3	0	5	0	2	2	5	0	6	6			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr12:15654567T>C	uc001rcv.2	+	4	1145	c.675T>C	c.(673-675)ccT>ccC	p.P225P	PTPRO_uc001rcw.2_Silent_p.P225P|PTPRO_uc001rcu.2_Silent_p.P225P	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	225						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CTTATCCACCTCAAAATATTT	0.348													17	38					0	0	1	0	0	C	15654567	T	C	15654567	2	2	107	1	0	0	0	0	0	0	0	1	12809	1538	54	4		4	PTPRO	12	15654567	Silent	SNP	T	TCGA-DU-8164-01A-11D-2253-08		15654567	118197328	22	4772											
RGS6	9628	broad.mit.edu	37	chr14	72961928	72961928	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagctgagccatccaaccCttggatcagcgatgacgttg	10	8	10	13	2	1	2	1	2	0	0	2	4	2	3	4	1	4	2	4	1	1	2			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr14:72961928C>A	uc001xna.4	+	12	1446	c.923C>A	c.(922-924)cCt>cAt	p.P308H	RGS6_uc021rvv.1_Missense_Mutation_p.P273H|RGS6_uc010ttn.2_Missense_Mutation_p.P308H|RGS6_uc021rvw.1_Missense_Mutation_p.P308H|RGS6_uc021rvx.1_Missense_Mutation_p.P308H|RGS6_uc021rvy.1_Intron|RGS6_uc021rvz.1_Intron|RGS6_uc001xmy.4_Missense_Mutation_p.P308H|RGS6_uc010tto.2_Non-coding_Transcript|RGS6_uc001xmx.4_Missense_Mutation_p.P308H|RGS6_uc021rwa.1_Intron|RGS6_uc021rwb.1_Intron|RGS6_uc010ttp.1_Missense_Mutation_p.P239H|RGS6_uc021rwc.1_Missense_Mutation_p.P169H	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	308	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CCATCCAACCCTTGGATCAGC	0.443													108	143					1.56226e-53	1.82899e-53	1	1	0	A	72961928	C	A	72961928	3	1	107	1	0	0	0	0	1	0	0	0	13309	681	24	5	969	5	RGS6	14	72961928	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08		72961928	34387612	23	4773											
C14orf49	161176	broad.mit.edu	37	chr14	95921888	95921890	+	In_Frame_Del	DEL	CTC	CTC	-																															cggagcaggccccgcagccgCtcctcctcctcctcccagag																										TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr14:95921888_95921890delCTC	uc001yei.4	-	4	976_978	c.961_963delGAG	c.(961-963)gagdel	p.E321del	C14orf49_uc010avi.3_In_Frame_Del_p.E321del|C14orf49_uc001yej.1_In_Frame_Del_p.E321del	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	321					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		CCCGCAGCCGCTCCTCCTCCTCC	0.616													7	148	---	---	---	---						-	95921890	CTC	-	95921888	7	5	107	1	0	1	0	1	0	0	0	0	1776	796	28	0	2016	0	C14orf49	14	95921888	In_Frame_Del	DEL	CTC	TCGA-DU-8164-01A-11D-2253-08	22959960	95921888	11427652	24	4774											
ATP8B4	79895	broad.mit.edu	37	chr15	50189590	50189590	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatttgcacattcggaaatAagaccaccttccatgaacaa	16	9	6	10	1	0	2	0	1	0	1	2	4	1	3	3	1	2	1	3	1	5	4			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr15:50189590A>C	uc001zxu.3	-	22	2738	c.2596T>G	c.(2596-2598)Tat>Gat	p.Y866D	ATP8B4_uc010ber.3_Missense_Mutation_p.Y739D|ATP8B4_uc010ufd.2_Missense_Mutation_p.Y676D|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxv.1_Missense_Mutation_p.Y164D	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	866					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ATTCGGAAATAAGACCACCTT	0.413													92	106					0	0	1	0	0	C	50189590	A	C	50189590	3	2	107	1	0	0	0	0	1	0	0	0	1197	362	13	5	1006	5	ATP8B4	15	50189590	Missense_Mutation	SNP	A	TCGA-DU-8164-01A-11D-2253-08		50189590	52341802	25	4775											
ZNF688	146542	broad.mit.edu	37	chr16	30581515	30581515	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcggccgcagtccgtgcAcacgtggcgccgctggccgg	3	4	18	16	8	0	0	0	0	0	0	1	0	1	0	4	5	1	3	4	5	0	0			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr16:30581515A>T	uc002dyt.2	-	2	1331	c.553T>A	c.(553-555)Tgc>Agc	p.C185S	ZNF688_uc002dys.2_Missense_Mutation_p.C171S|ZNF785_uc002dyu.3_5'Flank	NM_145271	NP_660314	P0C7X2	ZN688_HUMAN	Homo sapiens zinc finger protein 688 (ZNF688), transcript variant 1, mRNA.	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						CAGTCCGTGCACACGTGGCGC	0.687													10	13					0	0	1	0	0	T	30581515	A	T	30581515	3	4	107	1	0	0	0	0	1	0	0	0	18090	159	6	5	281	5	ZNF688	16	30581515	Missense_Mutation	SNP	A	TCGA-DU-8164-01A-11D-2253-08		30581515	59773238	26	4776											
HOXB8	3218	broad.mit.edu	37	chr17	46691864	46691864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgcacgggttctgctggtagGgagccgtggacagcgacgac	7	6	17	11	5	1	0	0	0	1	0	1	4	1	2	1	4	3	4	1	4	1	2			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr17:46691864G>A	uc002inw.3	-	0	438	c.203C>T	c.(202-204)cCc>cTc	p.P68L		NM_024016	NP_076921	P17481	HXB8_HUMAN	Homo sapiens homeobox B8 (HOXB8), mRNA.	68						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						CTGCTGGTAGGGAGCCGTGGA	0.672													23	28					0	0	1	0	0	A	46691864	G	A	46691864	3	1	107	1	0	0	0	0	1	0	0	0	7307	1232	43	3	536	3	HOXB8	17	46691864	Missense_Mutation	SNP	G	TCGA-DU-8164-01A-11D-2253-08		46691864	34503346	27	4777											
MRC2	9902	broad.mit.edu	37	chr17	60757562	60757564	+	In_Frame_Del	DEL	ACG	ACG	-																															caatttcgaccggagccggcAcgacgacgacgacatccgag																										TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr17:60757562_60757564delACG	uc002jad.3	+	14	2732_2734	c.2330_2332delACG	c.(2329-2334)cacgac>cac	p.D781del	MRC2_uc010ddq.1_Non-coding_Transcript|MRC2_uc002jae.3_5'Flank|MRC2_uc002jaf.3_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	781	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CGGAGCCGGCACGACGACGACGA	0.645													7	104	---	---	---	---						-	60757564	ACG	-	60757562	7	5	107	1	0	1	0	1	0	0	0	0	9758	159	6	0	2388	0	MRC2	17	60757562	In_Frame_Del	DEL	ACG	TCGA-DU-8164-01A-11D-2253-08	14065698	60757562	20437648	28	4778											
DCC	1630	broad.mit.edu	37	chr18	50731664	50731664	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttattacctgggaaccccCtgcctatgcaaacggtccag	9	10	8	14	1	1	0	0	0	1	0	2	1	2	1	5	2	5	1	5	2	5	3			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr18:50731664C>T	uc002lfe.2	+	9	2268	c.1652C>T	c.(1651-1653)cCt>cTt	p.P551L	DCC_uc010xdr.1_Missense_Mutation_p.P399L|DCC_uc010dpf.2_Missense_Mutation_p.P206L	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	551	Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGGGAACCCCCTGCCTATGCA	0.458													59	148					0	0	1	0	0	T	50731664	C	T	50731664	3	4	107	1	0	0	0	0	1	0	0	0	4282	681	24	3	1690	3	DCC	18	50731664	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08		50731664	27345584	29	4779											
FEM1A	55527	broad.mit.edu	37	chr19	4792851	4792851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcgggccatggagctgCgtcaccaggggggcgagtac	7	4	20	10	3	1	0	1	0	0	0	1	3	1	2	2	7	3	2	2	7	1	1			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr19:4792851C>T	uc002mbf.3	+	0	1124	c.985C>T	c.(985-987)Cgt>Tgt	p.R329C	AK126532_uc002mbg.1_Non-coding_Transcript	NM_018708	NP_061178	Q9BSK4	FEM1A_HUMAN	Homo sapiens fem-1 homolog a (C. elegans) (FEM1A), mRNA.	329					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CATGGAGCTGCGTCACCAGGG	0.607													22	33					0	0	1	0	0	T	4792851	C	T	4792851	3	4	107	1	0	0	0	0	1	0	0	0	5809	768	27	1	987	1	FEM1A	19	4792851	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08		4792851	54336132	30	4780											
RFX1	5989	broad.mit.edu	37	chr19	14083696	14083696	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccgccaccgcctcccccGccgccgccgccaccaccact	4	2	6	29	6	0	0	0	0	0	0	1	0	1	0	13	0	0	0	13	0	0	0			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr19:14083696G>C	uc002mxv.3	-	8	1445	c.1173C>G	c.(1171-1173)ggC>ggG	p.G391G	RFX1_uc010dzi.2_Silent_p.G391G	NM_002918	NP_002909	P22670	RFX1_HUMAN	Homo sapiens regulatory factor X, 1 (influences HLA class II expression) (RFX1), mRNA.	391	Gly-rich.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			cgcctcccccgccgccgccgc	0.726													2	9					0	0	1	0	0	C	14083696	G	C	14083696	2	2	107	1	0	0	0	0	0	0	0	1	13262	1074	38	5		5	RFX1	19	14083696	Silent	SNP	G	TCGA-DU-8164-01A-11D-2253-08	9290845	14083696	45045287	31	4781											
ELFN2	114794	broad.mit.edu	37	chr22	37770047	37770047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagccagaccgtccccgcCggcgcctgtgcgcacctcga	5	4	12	20	7	0	1	0	0	0	1	2	3	1	1	8	1	2	1	8	1	0	0	rs143903281		TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr22:37770047C>T	uc003asq.4	-	2	2314	c.1528G>A	c.(1528-1530)Ggc>Agc	p.G510S	ELFN2_uc021wph.1_Missense_Mutation_p.G510S	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	510						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CCGTCCCCGCCGGCGCCTGTG	0.662													30	33					0	0	1	0	0	T	37770047	C	T	37770047	3	4	107	1	0	0	0	0	1	0	0	0	5058	652	23	2	938	2	ELFN2	22	37770047	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08		37770047	13534519	32	4782											
EPHA10	284656	broad.mit.edu	37	chr1	38227727	38227727	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgcggatgggacggtcgTgttcatccacgccgctgatc	6	9	14	12	6	1	1	1	1	0	0	4	3	2	3	2	3	1	2	2	3	0	1			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr1:38227727T>C	uc009vvi.3	-	2	286	c.200A>G	c.(199-201)cAc>cGc	p.H67R	EPHA10_uc001cbw.4_Missense_Mutation_p.H67R	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	67						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGACGGTCGTGTTCATCCAC	0.627													35	92					0	0	1	0	0	C	38227727	T	C	38227727	3	2	108	1	0	0	0	0	1	0	0	0	5166	1696	59	3	2924	3	EPHA10	1	38227727	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08		38227727	211022894	1	4783											
RPTN	126638	broad.mit.edu	37	chr1	152129014	152129014	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgaaatccttgtcttgTctctcagactgattgtggtg	8	15	10	8	0	3	3	1	2	2	1	5	3	4	3	1	1	1	1	1	1	2	3			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr1:152129014T>C	uc001ezs.1	-	2	626	c.561A>G	c.(559-561)agA>agG	p.R187R		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	187	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.E186Q(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CCTTGTCTTGTCTCTCAGACT	0.458													16	500					0	0	1	0	0	C	152129014	T	C	152129014	2	2	108	1	0	0	0	0	0	0	0	1	13664	1664	58	3		3	RPTN	1	152129014	Silent	SNP	T	TCGA-DU-8165-01A-11D-2253-08	113901287	152129014	97121607	2	4784											
SLC39A1	27173	broad.mit.edu	37	chr1	153934816	153934826	+	Splice_Site	DEL	CTGGCGGGAAG	CTGGCGGGAAG	-																															cttactaggctcagggctttCtggcgggaagctgggtaggg																								rs61755890	byFrequency	TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr1:153934816_153934826delCTGGCGGGAAG	uc001fdl.3	-	4	654	c.188_splice	c.e4-1	p.A63_splice	SLC39A1_uc001fdi.3_Splice_Site_p.A63_splice|SLC39A1_uc001fdj.3_Splice_Site_p.A63_splice|SLC39A1_uc001fdk.3_Splice_Site_p.A63_splice|SLC39A1_uc010pee.2_Intron	NM_014437	NP_055252	Q9NY26	S39A1_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 1 (SLC39A1), mRNA.	63						endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		TCAGGGCTTTCTGGCGGGAAGCTGGGTAGGG	0.597													15	121	---	---	---	---						-	153934826	CTGGCGGGAAG	-	153934816	8	5	108	1	0	1	0	1	0	0	1	0	14612	912	32	0	784	0	SLC39A1	1	153934816	Splice_Site	DEL	CTGGCGGGAAG	TCGA-DU-8165-01A-11D-2253-08	1805802	153934816	95315805	3	4785											
TDRD10	126668	broad.mit.edu	37	chr1	154516509	154516509	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggcactcatccatagcGtccgtggggaggcggggctg	5	7	18	11	3	1	0	1	0	0	0	3	1	3	1	2	7	1	3	2	7	1	1	rs143192137	byFrequency	TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr1:154516509G>A	uc009wow.3	+	8	1412	c.574G>A	c.(574-576)Gtc>Atc	p.V192I	TDRD10_uc001ffd.3_Missense_Mutation_p.V192I|TDRD10_uc001ffe.3_Missense_Mutation_p.V113I	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.	192							RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CATCCATAGCGTCCGTGGGGA	0.612													47	126					0	0	1	0	0	A	154516509	G	A	154516509	3	1	108	1	0	0	0	0	1	0	0	0	15728	1145	40	1	604	1	TDRD10	1	154516509	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	581693	154516509	94734112	4	4786											
GLT25D2	23127	broad.mit.edu	37	chr1	183938503	183938503	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcttgtccgaggcctccttCctgaggtcaattaggaaggt	8	11	12	10	1	1	1	1	1	0	0	4	3	4	2	4	4	1	1	4	4	3	3			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr1:183938503C>T	uc001gqr.3	-	4	1104	c.732G>A	c.(730-732)agG>agA	p.R244R	GLT25D2_uc010poj.1_Silent_p.R244R|GLT25D2_uc001gqs.3_Silent_p.R124R	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	Homo sapiens glycosyltransferase 25 domain containing 2 (GLT25D2), mRNA.	244					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|skin(2)	31						AGGCCTCCTTCCTGAGGTCAA	0.537													42	128					0	0	1	0	0	T	183938503	C	T	183938503	2	4	108	1	0	0	0	0	0	0	0	1	6467	854	30	3		3	GLT25D2	1	183938503	Silent	SNP	C	TCGA-DU-8165-01A-11D-2253-08	29421994	183938503	65312118	5	4787											
KIF26B	55083	broad.mit.edu	37	chr1	245862231	245862231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgaagattctggaacacCgccagcagaggatcgccgag	12	5	13	11	3	1	3	0	1	1	2	2	6	1	5	3	2	3	2	3	2	2	1			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr1:245862231C>T	uc001ibf.1	+	13	6510	c.6070C>T	c.(6070-6072)Cgc>Tgc	p.R2024C		NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	2024					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.H2023Q(1)|p.R2024H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TCTGGAACACCGCCAGCAGAG	0.567													18	49					0	0	1	0	0	T	245862231	C	T	245862231	3	4	108	1	0	0	0	0	1	0	0	0	8295	652	23	2	6124	2	KIF26B	1	245862231	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	61923728	245862231	3388390	6	4788											
OR11L1	391189	broad.mit.edu	37	chr1	248004441	248004441	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catacatggagatcatggtcCcgtagtagagagtgacaaca	14	8	11	8	1	1	3	1	1	0	2	2	5	2	3	1	2	2	2	1	2	4	3			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr1:248004441C>A	uc001idn.1	-	0	758	c.758G>T	c.(757-759)gGg>gTg	p.G253V		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GATCATGGTCCCGTAGTAGAG	0.498													28	74					2.28855e-06	2.4301e-06	1	1	0	A	248004441	C	A	248004441	3	1	108	1	0	0	0	0	1	0	0	0	10930	623	22	5	214	5	OR11L1	1	248004441	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	2142210	248004441	1246180	7	4789											
C2orf40	84417	broad.mit.edu	37	chr2	106690448	106690448	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgggaccggactcggccCgaggtgcagcagtggtacca	7	6	16	12	3	0	0	0	0	0	0	1	3	0	2	3	5	3	3	3	5	1	1			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr2:106690448C>G	uc010fjf.3	+	2	342	c.234C>G	c.(232-234)ccC>ccG	p.P78P		NM_032411	NP_115787	Q9H1Z8	AUGN_HUMAN	Homo sapiens chromosome 2 open reading frame 40 (C2orf40), mRNA.	78						extracellular region|transport vesicle				lung(7)|urinary_tract(1)	8						GGACTCGGCCCGAGGTGCAGC	0.577													34	79					0	0	1	0	0	G	106690448	C	G	106690448	2	3	108	1	0	0	0	0	0	0	0	1	2165	639	23	5		5	C2orf40	2	106690448	Silent	SNP	C	TCGA-DU-8165-01A-11D-2253-08		106690448	136508925	8	4790											
SCN1A	6323	broad.mit.edu	37	chr2	166901577	166901577	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtggggaggagtacctcttTtcatatgtcaatcggttccc	7	14	11	9	1	3	0	2	0	1	0	5	2	4	2	2	4	1	2	2	4	3	5			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr2:166901577T>C	uc002udo.4	-	11	1865	c.1638A>G	c.(1636-1638)gaA>gaG	p.E546E	SCN1A_uc010fpk.3_Silent_p.E546E|SCN1A_uc021vsb.1_Silent_p.E546E	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	546						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGTACCTCTTTTCATATGTCA	0.428													26	51					0	0	1	0	0	C	166901577	T	C	166901577	2	2	108	1	0	0	0	0	0	0	0	1	13914	1838	64	3		3	SCN1A	2	166901577	Silent	SNP	T	TCGA-DU-8165-01A-11D-2253-08	60211129	166901577	76297796	9	4791											
SCN7A	6332	broad.mit.edu	37	chr2	167288988	167288988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtttttctctgtgccactgCttttttccttatctttgaga	4	21	6	10	1	2	1	0	1	2	1	4	2	3	1	2	0	2	2	2	0	1	7			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr2:167288988C>T	uc002udu.2	-	14	2562	c.2432G>A	c.(2431-2433)aGc>aAc	p.S811N	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	811					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TGTGCCACTGCTTTTTTCCTT	0.388													44	112					0	0	1	0	0	T	167288988	C	T	167288988	3	4	108	1	0	0	0	0	1	0	0	0	13923	797	28	3	2660	3	SCN7A	2	167288988	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	387411	167288988	75910385	10	4792											
LRP2	4036	broad.mit.edu	37	chr2	170060647	170060647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acccgtcatatttgttagctCggtaaattctttgtgtgtac	8	17	8	8	2	2	0	1	0	1	0	3	0	2	0	1	1	2	4	1	1	5	7			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr2:170060647C>T	uc002ues.3	-	41	8063	c.7850G>A	c.(7849-7851)cGa>cAa	p.R2617Q		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2617					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity	p.R2617L(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTTGTTAGCTCGGTAAATTCT	0.443													101	180					0	0	1	0	0	T	170060647	C	T	170060647	3	4	108	1	0	0	0	0	1	0	0	0	8956	884	31	2	6269	2	LRP2	2	170060647	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	2771659	170060647	73138726	11	4793											
LRP2	4036	broad.mit.edu	37	chr2	170115593	170115593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatactgaactactgtgcGtctcgttttatcagctagcc	10	14	7	10	2	2	1	1	1	1	0	3	1	2	1	1	0	6	2	1	0	7	6			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr2:170115593G>A	uc002ues.3	-	16	2668	c.2455C>T	c.(2455-2457)Cgc>Tgc	p.R819C	LRP2_uc010zdf.1_Missense_Mutation_p.R682C	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	819					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity	p.R819C(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACTACTGTGCGTCTCGTTTTA	0.398													31	122					0	0	1	0	0	A	170115593	G	A	170115593	3	1	108	1	0	0	0	0	1	0	0	0	8956	1145	40	1	11764	1	LRP2	2	170115593	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	54946	170115593	73083780	12	4794											
COL3A1	1281	broad.mit.edu	37	chr2	189850395	189850395	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatctcttttttagggccCtcctggtattcctgggagaa	6	17	9	9	0	1	1	0	0	1	1	4	2	3	1	3	3	0	1	3	3	4	7			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr2:189850395C>G	uc002uqj.1	+	3	455	c.338C>G	c.(337-339)cCt>cGt	p.P113R		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	113					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TTTTAGGGCCCTCCTGGTATT	0.413													9	19					0	0	1	0	0	G	189850395	C	G	189850395	3	3	108	1	0	0	0	0	1	0	0	0	3688	681	24	5	352	5	COL3A1	2	189850395	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	19734802	189850395	53348978	13	4795											
MARS2	92935	broad.mit.edu	37	chr2	198570143	198570143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgcaccatgctgcgaacgtCcgtcctccgcctgctaggac	6	8	10	17	4	0	0	0	0	0	0	3	2	3	1	5	1	5	3	5	1	2	1			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr2:198570143C>T	uc002uuq.3	+	0	116	c.14C>T	c.(13-15)tCc>tTc	p.S5F	BC021693_uc002uup.3_Intron	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN	Homo sapiens methionyl-tRNA synthetase 2, mitochondrial (MARS2), nuclear gene encoding mitochondrial protein, mRNA.	5					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	CTGCGAACGTCCGTCCTCCGC	0.682													8	47					0	0	1	0	0	T	198570143	C	T	198570143	3	4	108	1	0	0	0	0	1	0	0	0	9317	855	30	3	16	3	MARS2	2	198570143	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	8719748	198570143	44629230	14	4796											
DCLK3	85443	broad.mit.edu	37	chr3	36779214	36779214	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcaggttggtcatctctgaGagtcatccttctgcctccag	6	13	10	12	0	4	1	2	1	2	1	7	2	6	1	3	2	2	2	3	2	0	2			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr3:36779214G>C	uc003cgi.2	-	1	1428	c.937C>G	c.(937-939)Ctc>Gtc	p.L313V		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	313						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TCATCTCTGAGAGTCATCCTT	0.582													59	71					0	0	1	0	0	C	36779214	G	C	36779214	3	2	108	1	0	0	0	0	1	0	0	0	4293	942	33	5	1025	5	DCLK3	3	36779214	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08		36779214	161243216	15	4797											
GNL3	26354	broad.mit.edu	37	chr3	52727062	52727062	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggctgatgctcgacaGgtaaaaggaccccttctcat	10	9	9	13	1	1	1	1	1	1	0	4	3	2	2	3	3	1	3	3	3	2	2			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr3:52727062G>A	uc003dfd.3	+	10	1217	c.1044_splice	c.e10+1	p.Q348_splice	GNL3_uc003dfe.3_Splice_Site_p.Q336_splice|GNL3_uc003dff.3_Splice_Site_p.Q336_splice	NM_014366	NP_996562	Q9BVP2	GNL3_HUMAN	Homo sapiens guanine nucleotide binding protein-like 3 (nucleolar) (GNL3), transcript variant 1, mRNA.	348	Intermediate (By similarity).				regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		ATGCTCGACAGGTAAAAGGAC	0.463													3	33					0	0	1	0	0	A	52727062	G	A	52727062	5	1	108	1	0	0	0	0	0	0	1	0	6537	1014	35	3	1082	3	GNL3	3	52727062	Splice_Site	SNP	G	TCGA-DU-8165-01A-11D-2253-08	15947848	52727062	145295368	16	4798											
SLC7A14	57709	broad.mit.edu	37	chr3	170219060	170219060	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatgccacaaattccccaaCagtgacatagctgtaggtgt	14	9	8	10	0	0	1	0	1	0	0	1	1	1	1	3	1	3	2	3	1	5	3			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr3:170219060C>A	uc003fgz.2	-	2	695	c.379G>T	c.(379-381)Gtt>Ttt	p.V127F	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	127						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AATTCCCCAACAGTGACATAG	0.527													6	42					0.0293803	0.0299621	1	1	0	A	170219060	C	A	170219060	3	1	108	1	0	0	0	0	1	0	0	0	14696	478	17	5	1960	5	SLC7A14	3	170219060	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	117491998	170219060	27803370	17	4799											
PIK3CA	5290	broad.mit.edu	37	chr3	178917478	178917478	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttatgtaattttattaaagGttttgctatcggcatgccag	10	18	8	5	1	0	0	0	0	0	0	1	0	0	0	1	2	2	4	1	2	6	9			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr3:178917478G>A	uc003fjk.3	+	3	510	c.353_splice	c.e3-1	p.G118_splice		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	118					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.G118D(26)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TTTATTAAAGGTTTTGCTATC	0.338		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			17	36					0	0	1	0	0	A	178917478	G	A	178917478	5	1	108	1	0	0	0	0	0	0	1	0	11913	1275	44	3	359	3	PIK3CA	3	178917478	Splice_Site	SNP	G	TCGA-DU-8165-01A-11D-2253-08	8698418	178917478	19104952	18	4800											
SLIT2	9353	broad.mit.edu	37	chr4	20597371	20597371	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcgacatcgattttgaCgactgccaagacaacaagtg	13	8	9	11	3	0	2	0	1	0	1	1	5	0	2	1	0	3	0	1	0	3	2			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr4:20597371C>T	uc003gpr.1	+	30	3438	c.3234C>T	c.(3232-3234)gaC>gaT	p.D1078D	SLIT2_uc003gps.1_Silent_p.D1070D	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1078	EGF-like 5; calcium-binding (Potential).				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding	p.D1078D(2)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCGATTTTGACGACTGCCAAG	0.468													76	83					0	0	1	0	0	T	20597371	C	T	20597371	2	4	108	1	0	0	0	0	0	0	0	1	14740	535	19	1		1	SLIT2	4	20597371	Silent	SNP	C	TCGA-DU-8165-01A-11D-2253-08		20597371	170556905	19	4801											
DCHS2	54798	broad.mit.edu	37	chr4	155254316	155254316	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggctggcgatggagtacCggatgagtccgttccgccca	6	7	16	12	5	0	1	0	1	0	0	2	4	2	3	4	4	1	3	4	4	1	2			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr4:155254316C>A	uc003inw.2	-	8	1547	c.1547G>T	c.(1546-1548)cGg>cTg	p.R516L	DCHS2_uc003inx.2_Missense_Mutation_p.R1015L	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	516	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GATGGAGTACCGGATGAGTCC	0.647													13	29					7.03913e-09	8.05589e-09	1	1	0	A	155254316	C	A	155254316	3	1	108	1	0	0	0	0	1	0	0	0	4288	652	23	5	7367	5	DCHS2	4	155254316	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	134656945	155254316	35899960	20	4802											
CCDC110	256309	broad.mit.edu	37	chr4	186380589	186380589	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcatgttttgtttggtcgagGaaggacagtgtgtatcttgg	7	16	14	4	1	2	0	1	0	1	0	3	3	2	2	0	4	0	3	0	4	2	5			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr4:186380589G>C	uc003ixu.4	-	5	1228	c.1152C>G	c.(1150-1152)ttC>ttG	p.F384L	CCDC110_uc003ixv.4_Missense_Mutation_p.F347L|CCDC110_uc011ckt.1_Missense_Mutation_p.F384L	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	Homo sapiens coiled-coil domain containing 110 (CCDC110), transcript variant 1, mRNA.	384						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTTGGTCGAGGAAGGACAGTG	0.308													25	88					0	0	1	0	0	C	186380589	G	C	186380589	3	2	108	1	0	0	0	0	1	0	0	0	2747	1165	41	5	1357	5	CCDC110	4	186380589	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	31126273	186380589	4773687	21	4803											
EGFLAM	133584	broad.mit.edu	37	chr5	38464022	38464022	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacttcaccctgtccaccgaTtaccacatttccctcgtgga	8	11	5	17	2	1	0	1	0	0	0	4	2	3	1	5	1	1	0	5	1	1	3			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr5:38464022T>G	uc003jlc.2	+	22	3334	c.2988T>G	c.(2986-2988)gaT>gaG	p.D996E	EGFLAM_uc003jlb.2_Missense_Mutation_p.D988E|EGFLAM_uc003jle.2_Missense_Mutation_p.D754E|EGFLAM_uc003jlf.2_Missense_Mutation_p.D354E|EGFLAM_uc003jlg.2_Missense_Mutation_p.D131E|EGFLAM_uc003jlh.2_Missense_Mutation_p.D78E	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	996	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGTCCACCGATTACCACATTT	0.517													3	58					0	0	1	0	0	G	38464022	T	G	38464022	3	3	108	1	0	0	0	0	1	0	0	0	4966	1490	52	5	3064	5	EGFLAM	5	38464022	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08		38464022	142451238	22	4804											
ITGA2	3673	broad.mit.edu	37	chr5	52344295	52344295	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agctctcagccagcttctcaCctgcaactcagcgtaagtta	10	10	7	14	1	3	0	3	0	2	0	5	0	3	0	2	0	6	5	2	0	3	3			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr5:52344295C>A	uc003joy.3	+	4	633	c.490C>A	c.(490-492)Cct>Act	p.P164T	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Missense_Mutation_p.P88T|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	164					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CAGCTTCTCACCTGCAACTCA	0.478													41	39					1.00776e-21	1.26584e-21	1	1	0	A	52344295	C	A	52344295	3	1	108	1	0	0	0	0	1	0	0	0	7875	507	18	5	508	5	ITGA2	5	52344295	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	13880273	52344295	128570965	23	4805											
PCDHAC2	56134	broad.mit.edu	37	chr5	140214298	140214298	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccacctggaggtgatcgtGgaaaggccgctgcaggtttt	8	10	14	9	2	0	1	0	1	0	0	2	3	1	3	3	5	1	3	3	5	1	2	rs61730625		TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr5:140214298G>T	uc003lhq.2	+	0	330	c.330G>T	c.(328-330)gtG>gtT	p.V110V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Silent_p.V110V	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	125	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGATCGTGGAAAGGCCGC	0.557													178	340					1.79791e-67	2.34411e-67	1	1	0	T	140214298	G	T	140214298	2	4	108	1	0	0	0	0	0	0	0	1	11533	1335	47	5		5	PCDHAC2	5	140214298	Silent	SNP	G	TCGA-DU-8165-01A-11D-2253-08	87870003	140214298	40700962	24	4806											
NR3C1	2908	broad.mit.edu	37	chr5	142779650	142779650	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttaattttgggtttagtgTccggtaaaatgagaggcttg	9	15	12	5	1	0	1	0	1	0	1	1	2	1	1	2	3	0	3	2	3	4	7			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr5:142779650T>C	uc003lnd.3	-	1	1749	c.755A>G	c.(754-756)gAc>gGc	p.D252G	NR3C1_uc003lmy.3_Missense_Mutation_p.D252G|NR3C1_uc003lmz.3_5'UTR|NR3C1_uc003lna.3_Missense_Mutation_p.D252G|NR3C1_uc003lnb.3_Missense_Mutation_p.D252G|NR3C1_uc011dbk.2_Intron|NR3C1_uc003lnf.3_Missense_Mutation_p.D252G|NR3C1_uc003lne.3_Missense_Mutation_p.D252G|NR3C1_uc003lnc.3_Missense_Mutation_p.D252G|NR3C1_uc021yfa.1_Missense_Mutation_p.D252G|NR3C1_uc021yfb.1_Missense_Mutation_p.D252G|NR3C1_uc003lng.2_Missense_Mutation_p.D252G|NR3C1_uc003lni.2_Missense_Mutation_p.D252G	NM_001018077	NP_001191193	P04150	GCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) (NR3C1), transcript variant 5, mRNA.	252	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	GGGTTTAGTGTCCGGTAAAAT	0.413													6	94					0	0	1	0	0	C	142779650	T	C	142779650	3	2	108	1	0	0	0	0	1	0	0	0	10630	1667	58	3	1665	3	NR3C1	5	142779650	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08	2565352	142779650	38135610	25	4807											
SH3RF2	153769	broad.mit.edu	37	chr5	145393444	145393444	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggggcccagggtccaggagGaaggtgcctgggcagttttc	7	7	18	9	0	0	0	0	0	0	0	2	2	1	2	3	7	1	2	3	7	1	2			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr5:145393444G>A	uc003lnt.3	+	4	1117	c.879G>A	c.(877-879)agG>agA	p.R293R	SH3RF2_uc011dbl.1_Silent_p.R293R	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	293							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTCCAGGAGGAAGGTGCCTG	0.577													14	73					0	0	1	0	0	A	145393444	G	A	145393444	2	1	108	1	0	0	0	0	0	0	0	1	14259	1165	41	3		3	SH3RF2	5	145393444	Silent	SNP	G	TCGA-DU-8165-01A-11D-2253-08	2613794	145393444	35521816	26	4808											
TIGD6	81789	broad.mit.edu	37	chr5	149375645	149375645	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaagaatgtttttggcatgGatttcttgaaaccaagcaaa	15	12	8	6	0	1	2	0	1	1	1	1	3	1	3	1	2	2	3	1	2	5	4			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr5:149375645G>T	uc003lri.3	-	1	1029	c.267C>A	c.(265-267)atC>atA	p.I89I	TIGD6_uc003lrj.3_Silent_p.I89I|TIGD6_uc021yft.1_Silent_p.I89I	NM_001243253	NP_001230182	Q17RP2	TIGD6_HUMAN	Homo sapiens tigger transposable element derived 6 (TIGD6), transcript variant 2, mRNA.	89	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TTTTGGCATGGATTTCTTGAA	0.453													94	114					1.22118e-62	1.57226e-62	1	1	0	T	149375645	G	T	149375645	2	4	108	1	0	0	0	0	0	0	0	1	15897	1164	41	5		5	TIGD6	5	149375645	Silent	SNP	G	TCGA-DU-8165-01A-11D-2253-08	3982201	149375645	31539615	27	4809											
FAT2	2196	broad.mit.edu	37	chr5	150943010	150943010	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacagaggtgcccacgggAgcatcctcctggatggaggg	9	5	16	11	1	0	1	0	0	0	1	2	4	2	4	3	5	3	2	3	5	0	0			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr5:150943010A>G	uc003lue.4	-	1	3463	c.3450T>C	c.(3448-3450)gcT>gcC	p.A1150A	FAT2_uc010jhx.1_Silent_p.A1150A	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1150	Cadherin 10.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCCACGGGAGCATCCTCCT	0.542													9	95					0	0	1	0	0	G	150943010	A	G	150943010	2	3	108	1	0	0	0	0	0	0	0	1	5690	291	11	4		4	FAT2	5	150943010	Silent	SNP	A	TCGA-DU-8165-01A-11D-2253-08	1567365	150943010	29972250	28	4810											
FAM83B	222584	broad.mit.edu	37	chr6	54806263	54806263	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcatctcctagaagaaagCattcttcctcatcgaattct	12	14	4	11	1	5	2	2	0	3	2	8	3	6	2	2	0	1	1	2	0	4	5			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr6:54806263C>A	uc003pck.3	+	4	2610	c.2494C>A	c.(2494-2496)Cat>Aat	p.H832N		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	832										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TAGAAGAAAGCATTCTTCCTC	0.378													15	28					6.31663e-08	6.99583e-08	1	1	0	A	54806263	C	A	54806263	3	1	108	1	0	0	0	0	1	0	0	0	5634	710	25	5	2508	5	FAM83B	6	54806263	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08		54806263	116308804	29	4811											
POM121L12	285877	broad.mit.edu	37	chr7	53103578	53103578	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acttccagtgggggcgcccgGtgcccagcacccacctcatc	6	6	11	18	2	1	0	1	0	0	0	3	0	2	0	5	3	2	1	5	3	0	1			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr7:53103578G>T	uc003tpz.3	+	0	230	c.214G>T	c.(214-216)Gtg>Ttg	p.V72L		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	72										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGGGCGCCCGGTGCCCAGCAC	0.711													12	49					3.87621e-19	4.81023e-19	1	1	0	T	53103578	G	T	53103578	3	4	108	1	0	0	0	0	1	0	0	0	12241	1261	44	5	216	5	POM121L12	7	53103578	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08		53103578	106035085	30	4812											
SPDYE5	442590	broad.mit.edu	37	chr7	75130895	75130895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaggccgttccatgaaccCgagggccaggaagaaccgct	10	6	13	12	3	0	2	0	1	0	1	1	4	1	3	5	3	2	3	5	3	4	2			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr7:75130895C>T	uc011kfy.2	+	5	906	c.770C>T	c.(769-771)cCg>cTg	p.P257L	DQ601342_uc022agh.1_5'Flank	NM_001099435	NP_001092905	A6NIY4	SPDE5_HUMAN	Homo sapiens speedy homolog E5 (Xenopus laevis) (SPDYE5), mRNA.	257	Arg-rich.																TCCATGAACCCGAGGGCCAGG	0.592													6	284					0	0	1	0	0	T	75130895	C	T	75130895	3	4	108	1	0	0	0	0	1	0	0	0	15031	652	23	2	792	2	SPDYE5	7	75130895	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	22027317	75130895	84007768	31	4813											
CALCR	799	broad.mit.edu	37	chr7	93065307	93065307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcacgtaatcatatatcttcCcaagcatcttgttggaaggt	11	14	7	9	1	4	0	2	0	2	0	5	1	5	1	1	2	1	3	1	2	5	6			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr7:93065307C>T	uc003umv.2	-	13	1508	c.1208G>A	c.(1207-1209)gGg>gAg	p.G403E	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.G369E|CALCR_uc003umw.2_Missense_Mutation_p.G369E	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	385					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	ATATATCTTCCCAAGCATCTT	0.453													8	46					0	0	1	0	0	T	93065307	C	T	93065307	3	4	108	1	0	0	0	0	1	0	0	0	2579	623	22	3	330	3	CALCR	7	93065307	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	17934412	93065307	66073356	32	4814											
BAIAP2L1	55971	broad.mit.edu	37	chr7	97922907	97922907	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggcaaaggggttttctcCgctgcaggggataagaaaaa	13	8	14	6	1	1	1	0	0	1	1	2	2	1	2	1	5	1	4	1	5	4	3			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr7:97922907C>T	uc003upj.3	-	14	1724	c.1461_splice	c.e14-1	p.S487_splice		NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	Homo sapiens BAI1-associated protein 2-like 1 (BAIAP2L1), mRNA.	487	Binds F-actin.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	SH3 domain binding|actin binding|cytoskeletal adaptor activity|proline-rich region binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			GGGTTTTCTCCGCTGCAGGGG	0.527													18	90					0	0	1	0	0	T	97922907	C	T	97922907	5	4	108	1	0	0	0	0	0	0	1	0	1302	666	23	2	77	2	BAIAP2L1	7	97922907	Splice_Site	SNP	C	TCGA-DU-8165-01A-11D-2253-08	4857600	97922907	61215756	33	4815											
FLNC	2318	broad.mit.edu	37	chr7	128494111	128494111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacctacacccgcacggagCgcacggagatcagcaagacg	13	2	11	15	5	1	2	1	0	0	2	1	4	1	3	2	2	3	3	2	2	2	1			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr7:128494111C>T	uc003vnz.4	+	39	6777	c.6568C>T	c.(6568-6570)Cgc>Tgc	p.R2190C	FLNC_uc003voa.4_Missense_Mutation_p.R2157C	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2190	Intradomain insert.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCGCACGGAGCGCACGGAGAT	0.657													18	32					0	0	1	0	0	T	128494111	C	T	128494111	3	4	108	1	0	0	0	0	1	0	0	0	5935	768	27	1	6726	1	FLNC	7	128494111	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	30571204	128494111	30644552	34	4816											
ZFHX4	79776	broad.mit.edu	37	chr8	77617899	77617899	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagggtacctcgtcctccTcggcgactgtttctgatgac	8	11	10	12	3	1	2	0	2	1	0	5	3	3	2	3	2	1	2	3	2	3	2			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr8:77617899T>G	uc003yau.2	+	1	1963	c.1576T>G	c.(1576-1578)Tcg>Gcg	p.S526A	ZFHX4_uc003yat.1_Missense_Mutation_p.S526A|ZFHX4_uc003yaw.1_Missense_Mutation_p.S526A	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	526	Poly-Ser.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTCGTCCTCCTCGGCGACTGT	0.428										HNSCC(33;0.089)			10	17					0	0	1	0	0	G	77617899	T	G	77617899	3	3	108	1	0	0	0	0	1	0	0	0	17632	1551	54	5	1578	5	ZFHX4	8	77617899	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08		77617899	68746123	35	4817											
MATN2	4147	broad.mit.edu	37	chr8	99019780	99019780	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggacagatcctttgcctgTcagtgtcctgagggacacgt	8	11	12	10	1	1	2	1	1	0	1	3	4	3	4	3	2	1	0	3	2	0	1			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr8:99019780T>G	uc003yic.3	+	9	1755	c.1524T>G	c.(1522-1524)tgT>tgG	p.C508W	MATN2_uc010mbh.1_Missense_Mutation_p.C467W|MATN2_uc003yid.3_Missense_Mutation_p.C508W|MATN2_uc003yie.1_Missense_Mutation_p.C508W|MATN2_uc010mbi.1_Missense_Mutation_p.C341W	NM_002380	NP_002371	O00339	MATN2_HUMAN	Homo sapiens matrilin 2 (MATN2), transcript variant 1, mRNA.	508	EGF-like 7.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CCTTTGCCTGTCAGTGTCCTG	0.557													34	63					0	0	1	0	0	G	99019780	T	G	99019780	3	3	108	1	0	0	0	0	1	0	0	0	9334	1673	58	5	1558	5	MATN2	8	99019780	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08	21401881	99019780	47344242	36	4818											
COL22A1	169044	broad.mit.edu	37	chr8	139793188	139793188	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctcatgcctttgctgccGtctctcccaggggggccggg	3	10	13	15	2	2	0	1	0	2	0	5	0	3	0	4	4	3	1	4	4	0	1			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr8:139793188G>A	uc003yvd.3	-	12	2079	c.1632C>T	c.(1630-1632)gaC>gaT	p.D544D		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	544	Collagen-like 2.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTTGCTGCCGTCTCTCCCAG	0.527										HNSCC(7;0.00092)			20	36					0	0	1	0	0	A	139793188	G	A	139793188	2	1	108	1	0	0	0	0	0	0	0	1	3681	1136	40	1		1	COL22A1	8	139793188	Silent	SNP	G	TCGA-DU-8165-01A-11D-2253-08	40773408	139793188	6570834	37	4819											
FAM75C1	441452	broad.mit.edu	37	chr9	90534221	90534221	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagtgtccaacagggcggAgggggaggcccagaggcagg	9	2	19	11	1	0	1	0	0	0	1	1	3	1	3	3	7	1	1	3	7	1	0			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr9:90534221A>T	uc010mqi.3	+	1	270	c.241A>T	c.(241-243)Agg>Tgg	p.R81W	FAM75C1_uc004apq.4_Missense_Mutation_p.R64W	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		AACAGGGCGGAGGGGGAGGCC	0.572													35	111					0	0	1	0	0	T	90534221	A	T	90534221	3	4	108	1	0	0	0	0	1	0	0	0	5623	295	11	5	247	5	FAM75C1	9	90534221	Missense_Mutation	SNP	A	TCGA-DU-8165-01A-11D-2253-08		90534221	50679210	38	4820											
GRIN3A	116443	broad.mit.edu	37	chr9	104341582	104341582	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtcaaaatggacagacCaaatccaatgcacagcagca	16	5	10	10	0	1	1	1	0	0	1	2	2	2	2	2	3	3	3	2	3	4	0			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr9:104341582C>G	uc004bbp.2	-	6	3428	c.2827G>C	c.(2827-2829)Ggt>Cgt	p.G943R	GRIN3A_uc004bbo.2_Missense_Mutation_p.G18R|GRIN3A_uc004bbq.1_Missense_Mutation_p.G943R	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	943					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	ATGGACAGACCAAATCCAATG	0.448													4	62					0	0	1	0	0	G	104341582	C	G	104341582	3	3	108	1	0	0	0	0	1	0	0	0	6783	594	21	5	532	5	GRIN3A	9	104341582	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	13807361	104341582	36871849	39	4821											
OR52I2	143502	broad.mit.edu	37	chr11	4608347	4608347	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctggctgctgtggacattgTtatggcctcctcggtggtac	4	14	13	10	1	1	0	0	0	1	0	3	1	2	1	2	5	2	4	2	5	2	3			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr11:4608347T>C	uc010qyh.2	+	0	327	c.305T>C	c.(304-306)gTt>gCt	p.V102A		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGGACATTGTTATGGCCTCC	0.483													65	166					0	0	1	0	0	C	4608347	T	C	4608347	3	2	108	1	0	0	0	0	1	0	0	0	11121	1725	60	3	307	3	OR52I2	11	4608347	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08		4608347	130398169	40	4822											
OR51A2	401667	broad.mit.edu	37	chr11	4976474	4976474	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagggaagggaagaaccAggagcatgctcttaaaggag	16	5	15	5	0	1	2	0	1	1	1	1	6	1	6	1	4	3	2	1	4	6	1			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr11:4976474A>T	uc010qyt.2	-	0	470	c.470T>A	c.(469-471)cTg>cAg	p.L157Q		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L157V(1)|p.L157L(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGAAGAACCAGGAGCATGCT	0.438													16	98					0	0	1	0	0	T	4976474	A	T	4976474	3	4	108	1	0	0	0	0	1	0	0	0	11086	188	7	5	473	5	OR51A2	11	4976474	Missense_Mutation	SNP	A	TCGA-DU-8165-01A-11D-2253-08	368127	4976474	130030042	41	4823											
OR52E8	390079	broad.mit.edu	37	chr11	5878650	5878650	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccaaaagatatttctttggTattgaaccagaagatgccca	14	12	7	8	0	1	4	0	1	1	3	2	4	2	4	3	1	2	1	3	1	6	5			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr11:5878650T>C	uc010qzr.2	-	0	283	c.283A>G	c.(283-285)Acc>Gcc	p.T95A	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTTCTTTGGTATTGAACCAG	0.473													54	90					0	0	1	0	0	C	5878650	T	C	5878650	3	2	108	1	0	0	0	0	1	0	0	0	11118	1638	57	3	672	3	OR52E8	11	5878650	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08	902176	5878650	129127866	42	4824											
ANO1	55107	broad.mit.edu	37	chr11	69950226	69950226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccagaccatgaagagactctCctatcccttctcccgggaga	10	8	8	15	1	2	4	0	1	2	3	5	6	3	4	5	1	0	0	5	1	2	2			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr11:69950226C>T	uc001opj.3	+	3	967	c.662C>T	c.(661-663)tCc>tTc	p.S221F	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Missense_Mutation_p.S193F	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	221					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						AAGAGACTCTCCTATCCCTTC	0.542													4	6					0	0	1	0	0	T	69950226	C	T	69950226	3	4	108	1	0	0	0	0	1	0	0	0	695	855	30	3	676	3	ANO1	11	69950226	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	64071576	69950226	65056290	43	4825											
SHANK2	22941	broad.mit.edu	37	chr11	70319315	70319315	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggctaaagacatctgagaGagcgggagaaggagaggcgg	15	3	18	5	2	1	5	0	1	1	4	1	8	1	5	0	5	1	1	0	5	4	1			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr11:70319315G>C	uc001oqc.3	-	21	5123	c.5011C>G	c.(5011-5013)Ctc>Gtc	p.L1671V	SHANK2_uc010rqn.2_Missense_Mutation_p.L1147V|SHANK2_uc001opz.3_Missense_Mutation_p.L1142V|BC127192_uc009ysn.1_Missense_Mutation_p.R72T|SHANK2_uc001opy.3_Missense_Mutation_p.L73V|SHANK2_uc021qmr.1_Non-coding_Transcript	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1358					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding	p.L1142V(1)|p.L1738V(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACATCTGAGAGAGCGGGAGAA	0.602													31	60					0	0	1	0	0	C	70319315	G	C	70319315	3	2	108	1	0	0	0	0	1	0	0	0	14265	942	33	5	344	5	SHANK2	11	70319315	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	369089	70319315	64687201	44	4826											
MMP8	4317	broad.mit.edu	37	chr11	102587093	102587093	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagcatcaaatgtcaaactgGggtcacagggtttgggtgtg	10	11	14	6	0	3	0	3	0	0	0	3	0	3	0	0	4	2	2	0	4	3	2			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr11:102587093G>T	uc001phe.2	-	5	941	c.842C>A	c.(841-843)cCc>cAc	p.P281H	MMP8_uc010rut.1_Missense_Mutation_p.P216H|MMP8_uc010ruu.1_Missense_Mutation_p.P258H	NM_002424	NP_002415	P22894	MMP8_HUMAN	Homo sapiens matrix metallopeptidase 8 (neutrophil collagenase) (MMP8), mRNA.	281					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		TGTCAAACTGGGGTCACAGGG	0.363													33	60					1.4374e-25	1.8278e-25	1	1	0	T	102587093	G	T	102587093	3	4	108	1	0	0	0	0	1	0	0	0	9668	1232	43	5	581	5	MMP8	11	102587093	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	32267778	102587093	32419423	45	4827											
ADAMTS20	80070	broad.mit.edu	37	chr12	43822162	43822162	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttagataatagcttggcTgcacaggggaactaggaaag	13	9	13	6	0	0	1	0	0	0	1	0	3	0	3	0	4	4	4	0	4	6	5			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr12:43822162T>A	uc010skx.2	-	25	3827	c.3827A>T	c.(3826-3828)cAg>cTg	p.Q1276L	ADAMTS20_uc001rno.1_Missense_Mutation_p.Q394L|ADAMTS20_uc001rnp.1_Missense_Mutation_p.Q430L	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1276						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATAGCTTGGCTGCACAGGGGA	0.468													4	74					0	0	1	0	0	A	43822162	T	A	43822162	3	1	108	1	0	0	0	0	1	0	0	0	266	1580	55	5	1960	5	ADAMTS20	12	43822162	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08		43822162	90029733	46	4828											
OR9K2	441639	broad.mit.edu	37	chr12	55524375	55524375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctgggagttgtgagtGtgctgtatggtgctgtcttt	4	16	14	7	0	2	1	1	1	1	0	2	2	2	2	1	2	2	4	1	2	1	3			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr12:55524375G>A	uc010spe.2	+	0	823	c.823G>A	c.(823-825)Gtg>Atg	p.V275M		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA.	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						AGTTGTGAGTGTGCTGTATGG	0.438													25	115					0	0	1	0	0	A	55524375	G	A	55524375	3	1	108	1	0	0	0	0	1	0	0	0	11254	1377	48	3	825	3	OR9K2	12	55524375	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	11702213	55524375	78327520	47	4829											
LRRIQ1	84125	broad.mit.edu	37	chr12	85521757	85521757	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttaaagaaaggaaaaagAgaaaatattgtgaatatccg	21	10	8	2	1	0	3	0	1	0	2	1	5	1	4	1	1	0	0	1	1	10	5			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr12:85521757A>T	uc001tac.3	+	17	4266	c.4155A>T	c.(4153-4155)agA>agT	p.R1385S		NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	1385										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAGGAAAAAGAGAAAATATTG	0.353													11	78					0	0	1	0	0	T	85521757	A	T	85521757	3	4	108	1	0	0	0	0	1	0	0	0	9029	301	11	5	4225	5	LRRIQ1	12	85521757	Missense_Mutation	SNP	A	TCGA-DU-8165-01A-11D-2253-08	29997382	85521757	48330138	48	4830											
ATP6V0A2	23545	broad.mit.edu	37	chr12	124228804	124228804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgatgtttggagacttcGgacatggctttgtgatgttt	6	17	13	5	1	0	3	0	2	0	1	1	5	0	4	0	3	0	3	0	3	0	4			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr12:124228804G>A	uc001ufr.3	+	10	1494	c.1246G>A	c.(1246-1248)Gga>Aga	p.G416R		NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a2 (ATP6V0A2), mRNA.	416					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TGGAGACTTCGGACATGGCTT	0.373													28	82					0	0	1	0	0	A	124228804	G	A	124228804	3	1	108	1	0	0	0	0	1	0	0	0	1169	1117	39	2	1288	2	ATP6V0A2	12	124228804	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	38707047	124228804	9623091	49	4831											
ERO1L	30001	broad.mit.edu	37	chr14	53138414	53138414	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgaagaacagccttctgtgTttcctcacttcaaacaaaga	13	11	6	11	0	3	3	2	1	1	2	4	3	4	3	2	0	3	1	2	0	4	3			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr14:53138414T>C	uc001wzv.3	-	5	662	c.442A>G	c.(442-444)Aca>Gca	p.T148A		NM_014584	NP_055399	Q96HE7	ERO1A_HUMAN	Homo sapiens ERO1-like (S. cerevisiae) (ERO1L), mRNA.	148					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					GCCTTCTGTGTTTCCTCACTT	0.284													20	9					0	0	1	0	0	C	53138414	T	C	53138414	3	2	108	1	0	0	0	0	1	0	0	0	5239	1725	60	3	1008	3	ERO1L	14	53138414	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08		53138414	54211126	50	4832											
DMXL2	23312	broad.mit.edu	37	chr15	51773679	51773679	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctatgaggttaattttaTcaacaaagttcttctcagtt	11	19	5	6	0	4	1	2	1	3	0	5	1	4	1	0	1	1	3	0	1	5	8			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr15:51773679T>C	uc010ufy.2	-	23	5849	c.5624A>G	c.(5623-5625)gAt>gGt	p.D1875G	DMXL2_uc002abd.3_5'UTR|DMXL2_uc002abf.3_Missense_Mutation_p.D1875G|DMXL2_uc010bfa.3_Missense_Mutation_p.D1239G	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1875						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTTAATTTTATCAACAAAGTT	0.378													6	41					0	0	1	0	0	C	51773679	T	C	51773679	3	2	108	1	0	0	0	0	1	0	0	0	4595	1435	50	3	3569	3	DMXL2	15	51773679	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08		51773679	50757713	51	4833											
ZNF200	7752	broad.mit.edu	37	chr16	3282875	3282875	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagacactgtctcttgttcCttttggactcctttgggcag	6	15	10	10	0	1	1	0	0	1	1	4	3	3	2	2	2	0	2	2	2	0	5			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr16:3282875C>T	uc002cuj.2	-	2	929	c.297G>A	c.(295-297)aaG>aaA	p.K99K	ZNF200_uc002cum.3_Silent_p.K99K|ZNF200_uc002cuk.2_Silent_p.K99K|ZNF200_uc010bti.2_Silent_p.K99K|ZNF200_uc002cui.2_Silent_p.K99K|ZNF200_uc002cul.3_Silent_p.K99K	NM_003454	NP_932354	P98182	ZN200_HUMAN	Homo sapiens zinc finger protein 200 (ZNF200), transcript variant 1, mRNA.	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						TCTCTTGTTCCTTTTGGACTC	0.478													12	32					0	0	1	0	0	T	3282875	C	T	3282875	2	4	108	1	0	0	0	0	0	0	0	1	17759	680	24	3		3	ZNF200	16	3282875	Silent	SNP	C	TCGA-DU-8165-01A-11D-2253-08		3282875	87071878	52	4834											
USP31	57478	broad.mit.edu	37	chr16	23085199	23085199	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtccacagagttcttacagtAcgctgccaaagagagcccgc	11	7	10	13	2	1	2	0	0	1	2	2	3	2	2	3	0	4	3	3	0	3	3			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr16:23085199A>G	uc002dll.3	-	13	2179	c.2179T>C	c.(2179-2181)Tac>Cac	p.Y727H	USP31_uc002dlk.3_5'Flank|USP31_uc010vca.2_Missense_Mutation_p.Y30H|USP31_uc010bxm.3_Missense_Mutation_p.Y15H	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	727					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TTCTTACAGTACGCTGCCAAA	0.542													6	26					0	0	1	0	0	G	23085199	A	G	23085199	3	3	108	1	0	0	0	0	1	0	0	0	17059	391	14	3	1891	3	USP31	16	23085199	Missense_Mutation	SNP	A	TCGA-DU-8165-01A-11D-2253-08	19802324	23085199	67269554	53	4835											
SBK1	388228	broad.mit.edu	37	chr16	28331420	28331420	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggctccctgaggacacggtGaagcgctgtgtgcagcagct	7	7	16	11	2	0	2	0	2	0	0	1	3	1	3	1	3	4	5	1	3	1	0			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr16:28331420G>C	uc002dpd.3	+	3	1242	c.453G>C	c.(451-453)gtG>gtC	p.V151V		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	Homo sapiens SH3-binding domain kinase 1 (SBK1), mRNA.	151	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						AGGACACGGTGAAGCGCTGTG	0.716													3	7					0	0	1	0	0	C	28331420	G	C	28331420	2	2	108	1	0	0	0	0	0	0	0	1	13860	1277	45	5		5	SBK1	16	28331420	Silent	SNP	G	TCGA-DU-8165-01A-11D-2253-08	5246221	28331420	62023333	54	4836											
IRX6	79190	broad.mit.edu	37	chr16	55362679	55362679	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagacctggaggaagaggaGgaggaggaggaggaagctga	15	2	21	3	0	0	3	0	1	0	2	0	12	0	11	1	8	1	1	1	8	3	0			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr16:55362679G>A	uc002ehy.3	+	4	1322	c.789G>A	c.(787-789)gaG>gaA	p.E263E	IRX6_uc002ehx.3_Silent_p.E263E	NM_024335	NP_077311	P78412	IRX6_HUMAN	Homo sapiens iroquois homeobox 6 (IRX6), mRNA.	263						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						aggaagaggaggaggaggagg	0.627													3	41					0	0	1	0	0	A	55362679	G	A	55362679	2	1	108	1	0	0	0	0	0	0	0	1	7848	991	35	3		3	IRX6	16	55362679	Silent	SNP	G	TCGA-DU-8165-01A-11D-2253-08	27031259	55362679	34992074	55	4837											
PAFAH1B1	5048	broad.mit.edu	37	chr17	2569347	2569347	+	Frame_Shift_Del	DEL	A	A	-																															aaagtatgctggtcttttggAaaaaaaatggacatctgtta																								rs113994198		TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr17:2569347delA	uc002fuw.4	+	3	723	c.155delA	c.(154-156)gaafs	p.E52fs	PAFAH1B1_uc010ckb.2_Intron	NM_000430	NP_000421	P43034	LIS1_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) (PAFAH1B1), mRNA.	52	Interaction with NDE1 (By similarity).|Interaction with NDEL1 (By similarity).				G2/M transition of mitotic cell cycle|acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						GGTCTTTTGGAAAAAAAATGG	0.244													2	4	---	---	---	---						-	2569347	A	-	2569347	7	5	108	1	0	1	0	1	0	0	0	0	11384	246	9	0	165	0	PAFAH1B1	17	2569347	Frame_Shift_Del	DEL	A	TCGA-DU-8165-01A-11D-2253-08		2569347	78625863	56	4838											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			5	16					0	0	1	0	0	A	7577121	G	A	7577121	3	1	108	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	5007774	7577121	73618089	57	4839											
TP53	7157	broad.mit.edu	37	chr17	7578458	7578458	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgtagatggccatggcgcGgacgcgggtgccgggcgggg	4	6	21	10	6	0	1	0	0	0	1	0	2	0	2	2	7	1	1	2	7	1	2			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr17:7578458G>T	uc002gim.2	-	4	666	c.472C>A	c.(472-474)Cgc>Agc	p.R158S	TP53_uc002gig.1_Missense_Mutation_p.R158S|TP53_uc002gih.3_Missense_Mutation_p.R158S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R26S|TP53_uc010cnf.1_Missense_Mutation_p.R26S|TP53_uc002gii.1_Missense_Mutation_p.R26S|TP53_uc010cni.1_Missense_Mutation_p.R158S|TP53_uc010cnh.1_Missense_Mutation_p.R158S|TP53_uc002gij.2_Missense_Mutation_p.R158S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R65S|TP53_uc002gio.2_Missense_Mutation_p.R26S|TP53_uc010vug.2_Missense_Mutation_p.R119S	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	158	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V157F(151)|p.R158H(66)|p.R158L(61)|p.R158C(34)|p.R158G(28)|p.R158fs*12(12)|p.V157I(10)|p.R158P(9)|p.R158fs*11(9)|p.V157D(8)|p.R158fs(8)|p.0?(8)|p.V157G(7)|p.V157L(6)|p.R158R(6)|p.V157V(5)|p.R158_A159delRA(4)|p.R156_I162delRVRAMAI(4)|p.V157fs*9(4)|p.R158_A159insX(4)|p.V157fs*22(4)|p.V157fs*13(3)|p.V157_C176del20(2)|p.R65fs(2)|p.R156_A161delRVRAMA(2)|p.R158F(2)|p.P151_V173del23(2)|p.R158fs*24(2)|p.R65G(2)|p.R156_R158delRVR(2)|p.V157del(2)|p.R26G(2)|p.R156_A161del(2)|p.P153fs*22(2)|p.V157_M160delVRAM(2)|p.V157_R158delVR(2)|p.T155_A161delTRVRAMA(2)|p.R26fs(2)|p.V157_I162delVRAMAI(2)|p.V157fs*21(2)|p.R158fs*8(2)|p.V157fs*24(2)|p.R156_V157insV(1)|p.R156fs*18(1)|p.V157A(1)|p.R26fs*11(1)|p.R156_V157del(1)|p.R158_A159insXX(1)|p.R156fs*12(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R158_A161del(1)|p.R156fs*20(1)|p.V157fs*23(1)|p.V157fs*25(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)		GCCATGGCGCGGACGCGGGTG	0.622		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)			31	72					1.67305e-13	2.02734e-13	1	1	0	T	7578458	G	T	7578458	3	4	108	1	0	0	0	0	1	0	0	0	16378	1116	39	5	826	5	TP53	17	7578458	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	1337	7578458	73616752	58	4840											
WDR16	146845	broad.mit.edu	37	chr17	9546373	9546373	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctggtcaaagtttgggattAtaatgagggtgaagtgactc	11	13	13	4	0	2	3	1	3	1	0	3	4	2	4	0	3	0	1	0	3	4	3			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr17:9546373A>G	uc010coc.3	+	14	1980	c.1751A>G	c.(1750-1752)tAt>tGt	p.Y584C	USP43_uc002gma.4_5'Flank|USP43_uc010cod.3_5'Flank|USP43_uc010vva.2_5'Flank|WDR16_uc002gly.3_Missense_Mutation_p.Y574C|WDR16_uc002glz.3_Missense_Mutation_p.Y506C			Q8N1V2	WDR16_HUMAN	Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA.	574						cytoplasm|intracellular membrane-bounded organelle	protein binding	p.G583E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						GTTTGGGATTATAATGAGGGT	0.433													8	34					0	0	1	0	0	G	9546373	A	G	9546373	3	3	108	1	0	0	0	0	1	0	0	0	17273	449	16	3	1775	3	WDR16	17	9546373	Missense_Mutation	SNP	A	TCGA-DU-8165-01A-11D-2253-08	1967915	9546373	71648837	59	4841											
HNF1B	6928	broad.mit.edu	37	chr17	36093613	36093613	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggttcttttgccgatcgtagGcctggtacaagatttgctgg	6	14	13	8	2	1	1	0	0	1	1	2	2	1	1	2	4	3	4	2	4	3	6			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr17:36093613G>T	uc002hok.4	-	2	967	c.746C>A	c.(745-747)gCc>gAc	p.A249D	HNF1B_uc021tvu.1_Missense_Mutation_p.A19D|HNF1B_uc010wdi.2_Missense_Mutation_p.A223D|HNF1B_uc021tvv.1_Missense_Mutation_p.A249D|HNF1B_uc021tvw.1_Missense_Mutation_p.A223D|HNF1B_uc010cve.1_Missense_Mutation_p.A57D	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	249					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			CCGATCGTAGGCCTGGTACAA	0.582													20	118					1.10923e-09	1.2983e-09	1	1	0	T	36093613	G	T	36093613	3	4	108	1	0	0	0	0	1	0	0	0	7252	1203	42	5	955	5	HNF1B	17	36093613	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	26547240	36093613	45101597	60	4842											
PTPRM	5797	broad.mit.edu	37	chr18	8113636	8113636	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatttcctgcagacagccTccaagctgcgcagcctttta	10	10	8	13	1	0	2	0	0	0	2	2	2	2	2	4	0	5	3	4	0	3	3			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr18:8113636T>A	uc002knn.4	+	11	2512	c.2009T>A	c.(2008-2010)cTc>cAc	p.L670H	PTPRM_uc010dkv.3_Missense_Mutation_p.L670H|PTPRM_uc010wzl.2_Missense_Mutation_p.L457H	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	670	Fibronectin type-III 4.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	p.L670L(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GCAGACAGCCTCCAAGCTGCG	0.418													33	128					0	0	1	0	0	A	8113636	T	A	8113636	3	1	108	1	0	0	0	0	1	0	0	0	12806	1551	54	5	2055	5	PTPRM	18	8113636	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08		8113636	69963612	61	4843											
DSG1	1828	broad.mit.edu	37	chr18	28935112	28935112	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcctggttggcaccagcatgGgtgctgggagcggtgccctg	4	8	18	11	1	0	0	0	0	0	0	0	1	0	1	3	5	4	4	3	5	0	1			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr18:28935112G>T	uc002kwp.3	+	14	3165	c.2953G>T	c.(2953-2955)Ggt>Tgt	p.G985C	DSG1_uc010xbp.2_Missense_Mutation_p.G344C	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	985	Gly/Ser-rich.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CACCAGCATGGGTGCTGGGAG	0.602													33	81					3.90053e-15	4.78279e-15	1	1	0	T	28935112	G	T	28935112	3	4	108	1	0	0	0	0	1	0	0	0	4776	1232	43	5	3011	5	DSG1	18	28935112	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	20821476	28935112	49142136	62	4844											
B3GNT3	10331	broad.mit.edu	37	chr19	17922692	17922692	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccatgtcttggacatcttcCccattgatgatgtcttcctg	6	15	7	13	0	3	2	0	2	3	0	5	3	5	3	4	1	0	0	4	1	0	4			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr19:17922692C>A	uc002nhl.1	+	2	1027	c.880C>A	c.(880-882)Ccc>Acc	p.P294T	B3GNT3_uc010ebd.1_Missense_Mutation_p.P294T|B3GNT3_uc010ebe.1_Missense_Mutation_p.P294T	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.	294					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GGACATCTTCCCCATTGATGA	0.622													15	142					2.94398e-08	3.29598e-08	1	1	0	A	17922692	C	A	17922692	3	1	108	1	0	0	0	0	1	0	0	0	1258	623	22	5	886	5	B3GNT3	19	17922692	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08		17922692	41206291	63	4845											
ZNF536	9745	broad.mit.edu	37	chr19	31040286	31040286	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcctgccaaagccggagcggGggccccagagcctggacaag	9	2	16	14	2	0	1	0	0	0	1	0	3	0	3	6	4	4	0	6	4	2	0			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr19:31040286G>T	uc002nsu.1	+	3	3898	c.3760G>T	c.(3760-3762)Ggg>Tgg	p.G1254W	ZNF536_uc010edd.1_Missense_Mutation_p.G1254W	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCCGGAGCGGGGGCCCCAGAG	0.607													5	17					2.0095e-06	2.15602e-06	1	1	0	T	31040286	G	T	31040286	3	4	108	1	0	0	0	0	1	0	0	0	17971	1232	43	5	3770	5	ZNF536	19	31040286	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	13117594	31040286	28088697	64	4846											
ATP4A	495	broad.mit.edu	37	chr19	36046429	36046429	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gggtgggtgcgcagggcctcGaccagttccgatgggtccat	5	8	17	11	3	0	0	0	0	0	0	3	2	2	0	4	4	1	2	4	4	0	1	rs150964145	byFrequency	TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr19:36046429G>C	uc002oal.1	-	13	2099	c.2070C>G	c.(2068-2070)gtC>gtG	p.V690V	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	690					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GCAGGGCCTCGACCAGTTCCG	0.657													4	59					0	0	1	0	0	C	36046429	G	C	36046429	2	2	108	1	0	0	0	0	0	0	0	1	1145	1045	37	5		5	ATP4A	19	36046429	Silent	SNP	G	TCGA-DU-8165-01A-11D-2253-08	5006143	36046429	23082554	65	4847											
PSG11	5680	broad.mit.edu	37	chr19	43519344	43519344	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagcaagcatagagcccAttatgctttggagtaatctg	12	10	11	8	0	1	2	0	0	1	2	1	3	1	3	1	1	4	5	1	1	4	4			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr19:43519344A>G	uc002ovm.1	-	3	995	c.888T>C	c.(886-888)aaT>aaC	p.N296N	PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Silent_p.N174N|PSG11_uc002ovo.1_Silent_p.N174N	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA.	296	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CATAGAGCCCATTATGCTTTG	0.463													36	106					0	0	1	0	0	G	43519344	A	G	43519344	2	3	108	1	0	0	0	0	0	0	0	1	12654	214	8	3		3	PSG11	19	43519344	Silent	SNP	A	TCGA-DU-8165-01A-11D-2253-08	7472915	43519344	15609639	66	4848											
LILRA4	23547	broad.mit.edu	37	chr19	54849804	54849804	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttttcagactccagtgttTttaatatgtgcctcgacatt	8	18	7	8	1	1	1	1	0	0	1	3	2	2	1	2	0	1	2	2	0	2	7			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr19:54849804T>A	uc002qfj.3	-	2	275	c.218A>T	c.(217-219)aAa>aTa	p.K73I	LILRA4_uc002qfi.3_Missense_Mutation_p.K7I	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	73	Ig-like C2-type 1.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CTCCAGTGTTTTTAATATGTG	0.522													44	102					0	0	1	0	0	A	54849804	T	A	54849804	3	1	108	1	0	0	0	0	1	0	0	0	8787	1841	64	5	1305	5	LILRA4	19	54849804	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08	11330460	54849804	4279179	67	4849											
PLCB1	23236	broad.mit.edu	37	chr20	8737747	8737747	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaagcgagaacgactccaGcagaaaatggggtgaatcac	15	5	13	8	2	1	4	1	2	0	2	2	6	2	4	1	2	3	1	1	2	5	0			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr20:8737747G>T	uc002wnb.3	+	23	2581	c.2578G>T	c.(2578-2580)Gca>Tca	p.A860S	PLCB1_uc010zrb.1_Missense_Mutation_p.A759S|PLCB1_uc002wna.3_Missense_Mutation_p.A860S|PLCB1_uc002wnc.1_Missense_Mutation_p.A759S|PLCB1_uc002wnd.1_Missense_Mutation_p.A437S	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	860					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AACGACTCCAGCAGAAAATGG	0.478													21	82					9.57634e-11	1.13375e-10	1	1	0	T	8737747	G	T	8737747	3	4	108	1	0	0	0	0	1	0	0	0	12027	971	34	5	2672	5	PLCB1	20	8737747	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08		8737747	54287773	68	4850											
SSTR4	6754	broad.mit.edu	37	chr20	23016128	23016128	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcacccctggtcatgagcgCcccctcgacgctgccccccg	4	5	11	21	4	1	1	1	1	0	0	2	2	1	1	7	2	2	2	7	2	0	0			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr20:23016128C>T	uc002wsr.2	+	0	72	c.8C>T	c.(7-9)gCc>gTc	p.A3V		NM_001052	NP_001043	P31391	SSR4_HUMAN	Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.	3					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GTCATGAGCGCCCCCTCGACG	0.786													5	12					0	0	1	0	0	T	23016128	C	T	23016128	3	4	108	1	0	0	0	0	1	0	0	0	15199	739	26	3	10	3	SSTR4	20	23016128	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	14278381	23016128	40009392	69	4851											
ATP9A	10079	broad.mit.edu	37	chr20	50224091	50224091	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagatgctaatcaaaacccaTattaagaatgtcttgtagga	16	12	7	6	0	2	2	1	0	1	2	2	3	2	3	1	1	2	2	1	1	8	6			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr20:50224091T>C	uc002xwg.1	-	25	2778	c.2778A>G	c.(2776-2778)atA>atG	p.I926M	ATP9A_uc010gih.1_Missense_Mutation_p.I790M|ATP9A_uc002xwf.1_Missense_Mutation_p.I98M	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	926					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCAAAACCCATATTAAGAATG	0.498													5	45					0	0	1	0	0	C	50224091	T	C	50224091	3	2	108	1	0	0	0	0	1	0	0	0	1198	1396	49	3	377	3	ATP9A	20	50224091	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08	27207963	50224091	12801429	70	4852											
GAB4	128954	broad.mit.edu	37	chr22	17473039	17473039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgctagtctggcccctccGcaggataaaccagcgtttcc	8	9	9	15	2	1	0	0	0	1	0	3	1	3	1	5	2	3	3	5	2	3	3			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr22:17473039G>A	uc002zlw.3	-	1	310	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	GAB4_uc010gqs.1_Missense_Mutation_p.R68W	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	68	PH.							p.R68Q(1)|p.L67M(1)|p.R68L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TGGCCCCTCCGCAGGATAAAC	0.493													50	93					0	0	1	0	0	A	17473039	G	A	17473039	3	1	108	1	0	0	0	0	1	0	0	0	6151	1086	38	1	1558	1	GAB4	22	17473039	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08		17473039	33831527	71	4853											
TLR8	51311	broad.mit.edu	37	chrX	12938644	12938644	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcctcaacagtattttcttCattgggccaaaccaatttga	12	13	6	10	0	3	1	2	1	1	0	3	1	3	1	3	1	3	1	3	1	4	6			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chrX:12938644C>T	uc004cvd.3	+	2	1709	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Silent_p.F495F	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	Homo sapiens toll-like receptor 8 (TLR8), mRNA.	495					I-kappaB kinase/NF-kappaB cascade|cellular response to mechanical stimulus|defense response to virus|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	p.F513F(2)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GTATTTTCTTCATTGGGCCAA	0.378													9	88					0	0	1	0	0	T	12938644	C	T	12938644	2	4	108	1	0	0	0	0	0	0	0	1	15954	825	29	3		3	TLR8	23	12938644	Silent	SNP	C	TCGA-DU-8165-01A-11D-2253-08		12938644	142331916	72	4854											
CXorf23	256643	broad.mit.edu	37	chrX	19955647	19955647	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaactggaattctgatcAtccctaataaggaaacagag	18	8	8	7	0	2	2	1	1	1	1	3	5	3	4	1	2	2	0	1	2	6	3			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chrX:19955647A>C	uc004czp.3	-	7	1749	c.1749T>G	c.(1747-1749)gaT>gaG	p.D583E	CXorf23_uc011mjg.2_Missense_Mutation_p.D148E|CXorf23_uc004czo.3_Missense_Mutation_p.D533E	NM_198279	NP_938020	A2AJT9	CX023_HUMAN	Homo sapiens chromosome X open reading frame 23 (CXorf23), mRNA.	583						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						AATTCTGATCATCCCTAATAA	0.259													14	50					0	0	1	0	0	C	19955647	A	C	19955647	3	2	108	1	0	0	0	0	1	0	0	0	4103	214	8	5	315	5	CXorf23	23	19955647	Missense_Mutation	SNP	A	TCGA-DU-8165-01A-11D-2253-08	7017003	19955647	135314913	73	4855											
FAM47C	442444	broad.mit.edu	37	chrX	37027101	37027101	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggagcctcccaagactccGgtgtccagtctccgcccgga	6	6	11	18	4	1	1	0	0	1	1	5	3	4	3	7	3	1	0	7	3	1	0			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chrX:37027101G>A	uc004ddl.2	+	0	670	c.618G>A	c.(616-618)ccG>ccA	p.P206P		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	206								p.P206P(3)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCAAGACTCCGGTGTCCAGTC	0.652													23	63					0	0	1	0	0	A	37027101	G	A	37027101	2	1	108	1	0	0	0	0	0	0	0	1	5571	1103	39	2		2	FAM47C	23	37027101	Silent	SNP	G	TCGA-DU-8165-01A-11D-2253-08	17071454	37027101	118243459	74	4856											
DGAT2L6	347516	broad.mit.edu	37	chrX	69421805	69421805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaggctcaggcaatgccGtggttattgtggtgggtgga	9	10	17	5	1	1	1	1	0	0	1	1	2	1	2	1	6	1	3	1	6	3	2			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chrX:69421805G>A	uc004dxx.1	+	4	635	c.538G>A	c.(538-540)Gtg>Atg	p.V180M		NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2-like 6 (DGAT2L6), mRNA.	180					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	p.A179A(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						AGGCAATGCCGTGGTTATTGT	0.512													14	79					0	0	1	0	0	A	69421805	G	A	69421805	3	1	108	1	0	0	0	0	1	0	0	0	4459	1145	40	1	556	1	DGAT2L6	23	69421805	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	32394704	69421805	85848755	75	4857											
SYTL4	94121	broad.mit.edu	37	chrX	99931048	99931048	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taaacccagcttctgcttggCcattgaggaacggagctgca	10	9	11	11	1	1	1	0	1	1	0	1	3	1	3	2	3	6	4	2	3	3	4			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chrX:99931048C>A	uc004egd.4	-	18	2349	c.1993G>T	c.(1993-1995)Gcc>Tcc	p.A665S	SYTL4_uc004egc.3_Missense_Mutation_p.A96S|SYTL4_uc010nnb.3_Missense_Mutation_p.A337S|SYTL4_uc010nnc.3_Missense_Mutation_p.A665S|SYTL4_uc004ege.4_Missense_Mutation_p.A665S|SYTL4_uc004egf.4_Missense_Mutation_p.A665S	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	665					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTCTGCTTGGCCATTGAGGAA	0.552													5	17					0.0215528	0.0221993	1	1	0	A	99931048	C	A	99931048	3	1	108	1	0	0	0	0	1	0	0	0	15482	739	26	5	26	5	SYTL4	23	99931048	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	30509243	99931048	55339512	76	4858											
HS6ST2	90161	broad.mit.edu	37	chrX	131762858	131762858	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcaggcatgacagagaggTtgtagcagcctaccagggtc	10	9	13	9	0	1	2	1	1	0	1	2	3	1	2	2	3	3	4	2	3	2	4			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chrX:131762858T>A	uc011mvd.1	-	5	1747	c.1331A>T	c.(1330-1332)aAc>aTc	p.N444I	HS6ST2_uc011mvb.1_Missense_Mutation_p.N298I|HS6ST2_uc011mvc.1_Missense_Mutation_p.N258I|HS6ST2_uc011mve.1_Missense_Mutation_p.N404I|HS6ST2_uc011mva.1_Missense_Mutation_p.N130I	NM_001077188	NP_001070656	Q96MM7	H6ST2_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 2 (HS6ST2), transcript variant L, mRNA.	404						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					GACAGAGAGGTTGTAGCAGCC	0.522													29	122					0	0	1	0	0	A	131762858	T	A	131762858	3	1	108	1	0	0	0	0	1	0	0	0	7371	1725	60	5	610	5	HS6ST2	23	131762858	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08	31831810	131762858	23507702	77	4859											
BCL2L15	440603	broad.mit.edu	37	chr1	114424577	114424577	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatcctgagcacaccaggTcttgctgagagattccacag	11	8	11	11	0	1	3	0	2	1	1	3	5	3	4	3	2	2	2	3	2	1	2			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr1:114424577T>C	uc001edw.3	-	2	464	c.292A>G	c.(292-294)Acc>Gcc	p.T98A	LOC100287722_uc001edv.1_Intron|BCL2L15_uc001edx.3_Intron|BCL2L15_uc001edy.3_Intron|BCL2L15_uc001edz.1_Non-coding_Transcript	NM_001010922	NP_001010922	Q5TBC7	B2L15_HUMAN	Homo sapiens BCL2-like 15 (BCL2L15), mRNA.	98					apoptosis					breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)	9	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCACACCAGGTCTTGCTGAGA	0.468													4	39					0	0	1	0	0	C	114424577	T	C	114424577	3	2	109	1	0	0	0	0	1	0	0	0	1373	1667	58	3	207	3	BCL2L15	1	114424577	Missense_Mutation	SNP	T	TCGA-DU-8166-01A-11D-2253-08		114424577	134826044	1	4860											
RNPEP	6051	broad.mit.edu	37	chr1	201972432	201972432	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctccctgatctctcccctggGgactcactcatgaagcctgc	6	10	8	17	0	3	2	2	2	1	0	6	3	5	3	4	2	2	0	4	2	1	0			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr1:201972432G>T	uc001gxd.3	+	8	1523	c.1494G>T	c.(1492-1494)ggG>ggT	p.G498G	RNPEP_uc001gxe.3_Silent_p.G199G	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN	Homo sapiens arginyl aminopeptidase (aminopeptidase B) (RNPEP), mRNA.	498					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TCTCCCCTGGGGACTCACTCA	0.562													22	53					1.42536e-11	1.63764e-11	1	1	0	T	201972432	G	T	201972432	2	4	109	1	0	0	0	0	0	0	0	1	13509	1219	43	5		5	RNPEP	1	201972432	Silent	SNP	G	TCGA-DU-8166-01A-11D-2253-08	87547855	201972432	47278189	2	4861											
USH2A	7399	broad.mit.edu	37	chr1	215987173	215987173	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaactccagtagaattcagaAcaaacgggatatacttttct	16	11	6	8	1	2	2	1	0	1	2	3	3	3	3	1	1	4	1	1	1	7	6			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr1:215987173A>G	uc001hku.1	-	48	10031	c.9644T>C	c.(9643-9645)gTt>gCt	p.V3215A		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3215					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGAATTCAGAACAAACGGGAT	0.433										HNSCC(13;0.011)			7	60					0	0	1	0	0	G	215987173	A	G	215987173	3	3	109	1	0	0	0	0	1	0	0	0	17033	43	2	3	6060	3	USH2A	1	215987173	Missense_Mutation	SNP	A	TCGA-DU-8166-01A-11D-2253-08	14014741	215987173	33263448	3	4862											
GNPAT	8443	broad.mit.edu	37	chr1	231403559	231403559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgttctgcttcagaacCggccatccatggactttgat	7	14	9	11	1	2	2	1	1	1	1	3	3	3	3	3	2	3	3	3	2	1	4			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr1:231403559C>T	uc001hup.4	+	8	1395	c.1189C>T	c.(1189-1191)Cgg>Tgg	p.R397W	GNPAT_uc009xfp.3_Missense_Mutation_p.R336W	NM_014236	NP_055051	O15228	GNPAT_HUMAN	Homo sapiens glyceronephosphate O-acyltransferase (GNPAT), mRNA.	397					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GCTTCAGAACCGGCCATCCAT	0.458													3	52					0	0	1	0	0	T	231403559	C	T	231403559	3	4	109	1	0	0	0	0	1	0	0	0	6541	643	23	2	1223	2	GNPAT	1	231403559	Missense_Mutation	SNP	C	TCGA-DU-8166-01A-11D-2253-08	15416386	231403559	17847062	4	4863											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								38	57					0	0	1	0	0	T	209113112	C	T	209113112	3	4	109	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-8166-01A-11D-2253-08		209113112	34086261	5	4864											
CHPF	79586	broad.mit.edu	37	chr2	220406861	220406861	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtctgagaggtcagcaccGccaccagcagcctctgcctg	7	7	12	15	1	3	1	1	1	2	1	3	2	3	1	5	2	4	2	5	2	0	0			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr2:220406861G>A	uc002vmc.4	-	1	592	c.365C>T	c.(364-366)gCg>gTg	p.A122V	CHPF_uc010zlh.2_5'UTR|TMEM198_uc002vme.3_5'Flank|TMEM198_uc002vmf.3_5'Flank	NM_024536	NP_001182660	Q8IZ52	CHSS2_HUMAN	Homo sapiens chondroitin polymerizing factor (CHPF), transcript variant 1, mRNA.	122						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGTCAGCACCGCCACCAGCAG	0.677											OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4					0	0	1	0	0	A	220406861	G	A	220406861	3	1	109	1	0	0	0	0	1	0	0	0	3368	1087	38	1	1974	1	CHPF	2	220406861	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08	11293749	220406861	22792512	6	4865											
SPP2	6694	broad.mit.edu	37	chr2	234978646	234978646	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagcaagaataaatactGactttgagtaacggccttga	16	9	9	7	1	0	5	0	3	0	2	0	5	0	5	1	1	3	2	1	1	6	5			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr2:234978646G>T	uc002vvk.1	+	6	710	c.625G>T	c.(625-627)Gac>Tac	p.D209Y	SPP2_uc010fyl.1_Missense_Mutation_p.D129Y	NM_006944	NP_008875	Q13103	SPP24_HUMAN	Homo sapiens secreted phosphoprotein 2, 24kDa (SPP2), mRNA.	209					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		AATAAATACTGACTTTGAGTA	0.443													3	57					0.0215528	0.0223817	1	1	0	T	234978646	G	T	234978646	3	4	109	1	0	0	0	0	1	0	0	0	15086	1290	45	5	651	5	SPP2	2	234978646	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08	14571785	234978646	8220727	7	4866											
KIF1A	547	broad.mit.edu	37	chr2	241683359	241683359	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgacccagggcgctaacCtgagcacgtccttgcagagg	8	5	12	16	3	0	2	0	1	0	1	1	3	1	2	5	2	3	3	5	2	1	2			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr2:241683359C>T	uc010fzk.3	-	33	3831	c.3584_splice	c.e33+1	p.S1195_splice	KIF1A_uc002vzy.3_Splice_Site_p.S1094_splice|KIF1A_uc002vzz.2_Splice_Site_p.S1195_splice	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	1094					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGGCGCTAACCTGAGCACGTC	0.592													10	75					0	0	1	0	0	T	241683359	C	T	241683359	5	4	109	1	0	0	0	0	0	0	1	0	8283	695	24	3	1859	3	KIF1A	2	241683359	Splice_Site	SNP	C	TCGA-DU-8166-01A-11D-2253-08	6704713	241683359	1516014	8	4867											
CD200	4345	broad.mit.edu	37	chr3	112054859	112054859	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaagaccaccatcaatgatTaccaggtaattttctacccc	14	10	5	12	0	2	2	1	1	1	1	2	3	2	2	5	1	2	1	5	1	5	5			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr3:112054859T>C	uc003dyw.3	+	1	226	c.82T>C	c.(82-84)Tac>Cac	p.Y28H	CD200_uc010hqd.1_Intron|CD200_uc003dyx.3_Intron|CD200_uc003dyz.3_Intron|CD200_uc003dyy.3_Intron	NM_001004196	NP_001004196	P41217	OX2G_HUMAN	Homo sapiens CD200 molecule (CD200), transcript variant 2, mRNA.	0					regulation of immune response	integral to plasma membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				CATCAATGATTACCAGGTAAT	0.393													6	107					0	0	1	0	0	C	112054859	T	C	112054859	3	2	109	1	0	0	0	0	1	0	0	0	2980	1754	61	3	88	3	CD200	3	112054859	Missense_Mutation	SNP	T	TCGA-DU-8166-01A-11D-2253-08		112054859	85967571	9	4868											
IGSF10	285313	broad.mit.edu	37	chr3	151164200	151164201	+	Frame_Shift_Ins	INS	-	-	T																															tgtaatggctataatagtcaINSttggtggcttggtgatagca																										TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr3:151164200_151164201insT	uc011bod.2	-	3	3568_3569	c.3568_3569insA	c.(3568-3570)atgfs	p.M1190fs		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1190					cell differentiation|multicellular organismal development|ossification	extracellular region		p.M1190K(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TATAATAGTCATTGGTGGCTTG	0.396													20	155	---	---	---	---						T	151164201	-	T	151164200	7	5	109	1	0	1	1	0	0	0	0	0	7597	217	8	0	4362	0	IGSF10	3	151164200	Frame_Shift_Ins	INS	-	TCGA-DU-8166-01A-11D-2253-08	39109341	151164200	46858230	10	4869											
RANBP9	10048	broad.mit.edu	37	chr6	13711709	13711709	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgttgctgctgctgcGgcggcggcggcggcggctgc	0	8	20	13	6	0	0	0	0	0	0	0	0	0	0	0	6	6	7	0	6	0	1			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr6:13711709G>T	uc003nbb.3	-	0	88	c.29C>A	c.(28-30)cCg>cAg	p.P10Q		NM_005493	NP_005484	Q96S59	RANB9_HUMAN	Homo sapiens RAN binding protein 9 (RANBP9), mRNA.	10	Poly-Pro.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ctgctgctgcggcggcggcgg	0.761													2	5					6.4e-05	6.912e-05	1	1	0	T	13711709	G	T	13711709	3	4	109	1	0	0	0	0	1	0	0	0	13032	1116	39	5	2216	5	RANBP9	6	13711709	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08		13711709	157403358	11	4870											
HIST1H3E	8353	broad.mit.edu	37	chr6	26225733	26225733	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgctattcatgccaaacgCgtgaccatcatgcctaaaga	12	9	8	12	3	2	2	2	1	0	1	2	2	2	2	3	0	4	1	3	0	4	3			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr6:26225733C>T	uc003nhb.2	+	1	711	c.351C>T	c.(349-351)cgC>cgT	p.R117R	HIST1H3E_uc003nhc.4_Silent_p.R117R	NM_021018	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3f (HIST1H3F), mRNA.	117					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding	p.R117H(1)		endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				ATGCCAAACGCGTGACCATCA	0.557											OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	105					0	0	1	0	0	T	26225733	C	T	26225733	2	4	109	1	0	0	0	0	0	0	0	1	7159	755	27	1		1	HIST1H3E	6	26225733	Silent	SNP	C	TCGA-DU-8166-01A-11D-2253-08	12514024	26225733	144889334	12	4871											
TRIM15	89870	broad.mit.edu	37	chr6	30138295	30138295	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggtgtgagatgaagacttTtgtgagtcctgaggccattt	9	13	13	6	0	0	5	0	4	0	2	1	6	1	5	2	2	0	0	2	2	1	3			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr6:30138295T>C	uc010jrx.3	+	4	1228	c.749T>C	c.(748-750)tTt>tCt	p.F250S		NM_033229	NP_150232	Q9C019	TRI15_HUMAN	Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.	250					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						ATGAAGACTTTTGTGAGTCCT	0.458													7	63					0	0	1	0	0	C	30138295	T	C	30138295	3	2	109	1	0	0	0	0	1	0	0	0	16487	1841	64	3	767	3	TRIM15	6	30138295	Missense_Mutation	SNP	T	TCGA-DU-8166-01A-11D-2253-08	3912562	30138295	140976772	13	4872											
CD109	135228	broad.mit.edu	37	chr6	74472143	74472143	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgaaaggagacgtaacGcttacatttttacctttatc	12	13	7	9	2	0	2	0	1	0	1	1	3	0	2	2	1	3	2	2	1	5	7			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr6:74472143G>A	uc003php.3	+	7	1226	c.795G>A	c.(793-795)acG>acA	p.T265T	CD109_uc003phq.3_Silent_p.T265T|CD109_uc010kba.3_Silent_p.T188T	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA.	265						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGACGTAACGCTTACATTTT	0.294													5	37					0	0	1	0	0	A	74472143	G	A	74472143	2	1	109	1	0	0	0	0	0	0	0	1	2963	1074	38	1		1	CD109	6	74472143	Silent	SNP	G	TCGA-DU-8166-01A-11D-2253-08	44333848	74472143	96642924	14	4873											
ARHGAP18	93663	broad.mit.edu	37	chr6	129959563	129959563	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttttgattctctctgttgAgcaaatatgtctctgacgtc	7	18	7	9	1	4	3	0	3	4	0	7	3	4	3	0	0	1	2	0	0	2	5			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr6:129959563A>T	uc003qbr.3	-	2	617	c.528T>A	c.(526-528)gcT>gcA	p.A176A	ARHGAP18_uc011ebw.2_Silent_p.A176A|ARHGAP18_uc021zfe.1_Silent_p.A173A	NM_033515	NP_277050	Q8N392	RHG18_HUMAN	Homo sapiens Rho GTPase activating protein 18 (ARHGAP18), mRNA.	176					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		CTCTCTGTTGAGCAAATATGT	0.388													5	106					0	0	1	0	0	T	129959563	A	T	129959563	2	4	109	1	0	0	0	0	0	0	0	1	868	291	11	5		5	ARHGAP18	6	129959563	Silent	SNP	A	TCGA-DU-8166-01A-11D-2253-08	55487420	129959563	41155504	15	4874											
HEATR2	54919	broad.mit.edu	37	chr7	780561	780561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctgctcagtagcctcaacGacgaggtgcctgaggtcagg	8	8	14	11	2	3	1	3	1	0	0	3	3	3	1	2	3	5	3	2	3	2	1			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr7:780561G>A	uc010krz.1	+	2	906	c.886G>A	c.(886-888)Gac>Aac	p.D296N	HEATR2_uc003siz.2_Missense_Mutation_p.D164N	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	296							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TAGCCTCAACGACGAGGTGCC	0.622													4	122					0	0	1	0	0	A	780561	G	A	780561	3	1	109	1	0	0	0	0	1	0	0	0	7028	1058	37	2	896	2	HEATR2	7	780561	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08		780561	158358102	16	4875											
DNAH11	8701	broad.mit.edu	37	chr7	21826380	21826380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagcagctaaagtcttcatgGgaaaggtatcagcccagcct	13	8	10	10	0	3	0	2	0	1	0	3	1	3	1	2	2	4	3	2	2	5	3			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr7:21826380G>A	uc003svc.3	+	59	9788	c.9757G>A	c.(9757-9759)Gga>Aga	p.G3253R		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3253	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGTCTTCATGGGAAAGGTATC	0.453									Kartagener syndrome				7	247					0	0	1	0	0	A	21826380	G	A	21826380	3	1	109	1	0	0	0	0	1	0	0	0	4599	1233	43	3	9992	3	DNAH11	7	21826380	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08	21045819	21826380	137312283	17	4876											
WBSCR17	64409	broad.mit.edu	37	chr7	70886066	70886066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaaaagactggtgggacGccggagacccttctctcccc	8	6	10	17	2	1	2	0	0	1	2	3	4	2	3	6	3	0	0	6	3	2	1			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr7:70886066G>A	uc003tvy.3	+	4	937	c.937G>A	c.(937-939)Gcc>Acc	p.A313T	WBSCR17_uc003tvz.3_Missense_Mutation_p.A12T	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	313						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.A313S(2)|p.D312D(2)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CTGGTGGGACGCCGGAGACCC	0.597													10	33					0	0	1	0	0	A	70886066	G	A	70886066	3	1	109	1	0	0	0	0	1	0	0	0	17261	1087	38	1	955	1	WBSCR17	7	70886066	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08	49059686	70886066	88252597	18	4877											
PAX4	5078	broad.mit.edu	37	chr7	127251252	127251252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagggaattcggctgtggggGcaagtggcctgtggggacaa	8	7	19	7	1	0	0	0	0	0	0	1	2	0	2	1	7	0	2	1	7	3	1			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr7:127251252G>A	uc010lld.1	-	8	1104	c.898C>T	c.(898-900)Ccc>Tcc	p.P300S	PAX4_uc003vmf.2_Missense_Mutation_p.P298S|PAX4_uc003vmg.1_Intron	NM_006193	NP_006184	O43316	PAX4_HUMAN	Homo sapiens paired box 4 (PAX4), mRNA.	311	Transcription repression.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGCTGTGGGGGCAAGTGGCCT	0.572													3	3					0	0	1	0	0	A	127251252	G	A	127251252	3	1	109	1	0	0	0	0	1	0	0	0	11481	1203	42	3	137	3	PAX4	7	127251252	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08	56365186	127251252	31887411	19	4878											
SLC39A14	23516	broad.mit.edu	37	chr8	22273631	22273631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctactggctgaaaggtgtcCgctactctgatatcggcact	8	11	11	11	2	1	2	0	2	1	0	3	2	2	2	1	3	2	4	1	3	4	3			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr8:22273631C>T	uc003xbq.4	+	6	1160	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C	SLC39A14_uc011kzg.2_Missense_Mutation_p.R329C|SLC39A14_uc003xbp.4_Missense_Mutation_p.R329C|SLC39A14_uc011kzh.2_Missense_Mutation_p.R329C	NM_001128431	NP_001128625	Q15043	S39AE_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 14 (SLC39A14), transcript variant 1, mRNA.	329						Golgi apparatus|endoplasmic reticulum|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		GAAAGGTGTCCGCTACTCTGA	0.582													4	66					0	0	1	0	0	T	22273631	C	T	22273631	3	4	109	1	0	0	0	0	1	0	0	0	14617	652	23	2	1181	2	SLC39A14	8	22273631	Missense_Mutation	SNP	C	TCGA-DU-8166-01A-11D-2253-08		22273631	124090391	20	4879											
SEMA4D	10507	broad.mit.edu	37	chr9	91994102	91994102	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcaggatgtgccggtgggCgcaggcttgggaggaagggt	6	7	21	7	3	0	0	0	0	0	0	1	3	0	3	1	7	1	3	1	7	1	1			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr9:91994102C>T	uc004aqo.1	-	17	2678	c.2106G>A	c.(2104-2106)gcG>gcA	p.A702A	SEMA4D_uc011ltm.1_Intron|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Silent_p.A702A	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 1, mRNA.	702					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						TGCCGGTGGGCGCAGGCTTGG	0.617													4	55					0	0	1	0	0	T	91994102	C	T	91994102	2	4	109	1	0	0	0	0	0	0	0	1	14034	755	27	1		1	SEMA4D	9	91994102	Silent	SNP	C	TCGA-DU-8166-01A-11D-2253-08		91994102	49219329	21	4880											
SLC39A12	221074	broad.mit.edu	37	chr10	18276464	18276464	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgggctccatgctggggAcagcgctggtccttttccat	5	11	12	13	1	0	0	0	0	0	0	3	1	3	1	3	4	2	3	3	4	0	2			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr10:18276464A>G	uc001ipo.2	+	6	1426	c.1153A>G	c.(1153-1155)Aca>Gca	p.T385A	SLC39A12_uc001ipn.2_Missense_Mutation_p.T385A|SLC39A12_uc001ipp.2_Missense_Mutation_p.T385A|SLC39A12_uc010qck.1_Missense_Mutation_p.T251A	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.	385					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CATGCTGGGGACAGCGCTGGT	0.557													7	86					0	0	1	0	0	G	18276464	A	G	18276464	3	3	109	1	0	0	0	0	1	0	0	0	14615	275	10	3	1175	3	SLC39A12	10	18276464	Missense_Mutation	SNP	A	TCGA-DU-8166-01A-11D-2253-08		18276464	117258283	22	4881											
SLIT1	6585	broad.mit.edu	37	chr10	98924609	98924609	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttgagccccgcaaagtcaTtcttatggatccgagtgatg	9	11	11	10	2	2	2	1	2	1	0	3	4	3	3	3	1	1	2	3	1	2	3			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr10:98924609T>C	uc001kmw.2	-	1	488	c.236A>G	c.(235-237)aAt>aGt	p.N79S	SLIT1_uc009xvh.1_Missense_Mutation_p.N79S|ARHGAP19_uc001kmy.3_Non-coding_Transcript	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	79					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CGCAAAGTCATTCTTATGGAT	0.622													84	85					0	0	1	0	0	C	98924609	T	C	98924609	3	2	109	1	0	0	0	0	1	0	0	0	14739	1493	52	3	4512	3	SLIT1	10	98924609	Missense_Mutation	SNP	T	TCGA-DU-8166-01A-11D-2253-08	80648145	98924609	36610138	23	4882											
OR56A1	120796	broad.mit.edu	37	chr11	6048480	6048480	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcaccacaatgaagacaCtagctttggccacaaattga	14	8	7	12	1	0	3	0	2	0	1	1	3	1	3	3	1	1	2	3	1	4	3			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr11:6048480C>A	uc010qzw.2	-	0	492	c.455G>T	c.(454-456)aGt>aTt	p.S152I		NM_001001917	NP_001001917	Q8NGH5	O56A1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 1 (OR56A1), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATGAAGACACTAGCTTTGGC	0.493													7	106					0.00621372	0.00657923	1	1	0	A	6048480	C	A	6048480	3	1	109	1	0	0	0	0	1	0	0	0	11133	565	20	5	505	5	OR56A1	11	6048480	Missense_Mutation	SNP	C	TCGA-DU-8166-01A-11D-2253-08		6048480	128958036	24	4883											
EIF3M	10480	broad.mit.edu	37	chr11	32624013	32624013	+	Splice_Site	DEL	A	A	-																															atagtaaaacattataaactAaaaaaatttgcctagtctgg																										TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr11:32624013delA	uc001mtu.3	+	11	1237	c.1194_splice	c.e11+1		CCDC73_uc001mtv.3_3'UTR|EIF3M_uc010ref.2_Splice_Site	NM_006360	NP_006351	Q7L2H7	EIF3M_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit M (EIF3M), mRNA.							eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					ATTATAAACTAAAAAAATTTG	0.289													2	4	---	---	---	---						-	32624013	A	-	32624013	8	5	109	1	0	1	0	1	0	0	1	0	5023	377	13	0		0	EIF3M	11	32624013	Splice_Site	DEL	A	TCGA-DU-8166-01A-11D-2253-08	26575533	32624013	102382503	25	4884											
PAAF1	80227	broad.mit.edu	37	chr11	73610227	73610227	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttccagcagaggaggtcttGgtgtgtcttctagtactgac	7	14	12	8	0	3	2	0	1	3	1	4	3	4	3	1	3	2	2	1	3	2	5			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr11:73610227G>T	uc001ouk.1	+	4	353	c.319G>T	c.(319-321)Ggt>Tgt	p.G107C	PAAF1_uc001oul.1_Missense_Mutation_p.G90C|PAAF1_uc001oum.1_Missense_Mutation_p.G90C	NM_025155	NP_079431	Q9BRP4	PAAF1_HUMAN	Homo sapiens proteasomal ATPase-associated factor 1 (PAAF1), mRNA.	107					interspecies interaction between organisms	proteasome complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					AGGAGGTCTTGGTGTGTCTTC	0.388													3	56					2.56e-06	2.82122e-06	1	1	0	T	73610227	G	T	73610227	3	4	109	1	0	0	0	0	1	0	0	0	11362	1348	47	5	337	5	PAAF1	11	73610227	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08	40986214	73610227	61396289	26	4885											
ARHGAP32	9743	broad.mit.edu	37	chr11	128840324	128840324	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catggagagactgcactctcCggatggtagggtacggtgga	9	8	16	8	2	1	1	0	0	1	1	2	5	1	4	1	6	2	3	1	6	2	2			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr11:128840324C>T	uc009zcp.3	-	21	4742	c.4742G>A	c.(4741-4743)cGg>cAg	p.R1581Q	ARHGAP32_uc009zcq.2_3'UTR|ARHGAP32_uc009zco.3_Missense_Mutation_p.R540Q|ARHGAP32_uc001qez.3_Missense_Mutation_p.R1232Q	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	1581	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	p.R1581L(1)|p.R1232L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CTGCACTCTCCGGATGGTAGG	0.552													24	60					0	0	1	0	0	T	128840324	C	T	128840324	3	4	109	1	0	0	0	0	1	0	0	0	881	652	23	2	1525	2	ARHGAP32	11	128840324	Missense_Mutation	SNP	C	TCGA-DU-8166-01A-11D-2253-08	55230097	128840324	6166192	27	4886											
LUM	4060	broad.mit.edu	37	chr12	91502163	91502163	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagggagaccagaaggcagTctggctatctgattgaagct	12	8	13	8	0	2	4	0	2	2	2	2	5	2	4	1	3	1	3	1	3	3	2			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr12:91502163T>A	uc001tbm.3	-	1	983	c.594A>T	c.(592-594)agA>agT	p.R198S		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	198					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						CAGAAGGCAGTCTGGCTATCT	0.423													8	160					0	0	1	0	0	A	91502163	T	A	91502163	3	1	109	1	0	0	0	0	1	0	0	0	9085	1664	58	5	430	5	LUM	12	91502163	Missense_Mutation	SNP	T	TCGA-DU-8166-01A-11D-2253-08		91502163	42349732	28	4887											
ASCL4	121549	broad.mit.edu	37	chr12	108169421	108169421	+	Frame_Shift_Del	DEL	C	C	-																															gagggcgcggccggcgccgtCccccagcgcagggcggaatg																										TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr12:108169421delC	uc001tmr.3	+	0	1260	c.429delC	c.(427-429)gtcfs	p.V143fs		NM_203436	NP_982260	Q6XD76	ASCL4_HUMAN	Homo sapiens achaete-scute complex homolog 4 (Drosophila) (ASCL4), mRNA.	142					regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						CCGGCGCCGTCCCCCAGCGCA	0.721													2	4	---	---	---	---						-	108169421	C	-	108169421	7	5	109	1	0	1	0	1	0	0	0	0	1036	842	30	0	431	0	ASCL4	12	108169421	Frame_Shift_Del	DEL	C	TCGA-DU-8166-01A-11D-2253-08	16667258	108169421	25682474	29	4888											
GPR180	160897	broad.mit.edu	37	chr13	95275437	95275437	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcacaccacaacttagcaggGatcctcctaattgttctaag	12	11	6	12	0	2	0	1	0	1	0	4	1	4	1	3	1	2	2	3	1	4	5			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr13:95275437G>C	uc001vly.3	+	6	1047	c.969G>C	c.(967-969)ggG>ggC	p.G323G	GPR180_uc001vlz.3_Silent_p.G222G|GPR180_uc010afi.3_Silent_p.G84G	NM_180989	NP_851320	Q86V85	GP180_HUMAN	Homo sapiens G protein-coupled receptor 180 (GPR180), mRNA.	323						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					ACTTAGCAGGGATCCTCCTAA	0.388													19	161					0	0	1	0	0	C	95275437	G	C	95275437	2	2	109	1	0	0	0	0	0	0	0	1	6676	1161	41	5		5	GPR180	13	95275437	Silent	SNP	G	TCGA-DU-8166-01A-11D-2253-08		95275437	19894441	30	4889											
OR11H12	440153	broad.mit.edu	37	chr14	19378063	19378063	+	Frame_Shift_Del	DEL	C	C	-																															catgactgggcatctctgtgCcaaactggtcatactgtgct																										TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr14:19378063delC	uc010tkp.2	+	0	470	c.470delC	c.(469-471)gccfs	p.A157fs		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A157D(2)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATCTCTGTGCCAAACTGGTC	0.468													11	621	---	---	---	---						-	19378063	C	-	19378063	7	5	109	1	0	1	0	1	0	0	0	0	10927	739	26	0	472	0	OR11H12	14	19378063	Frame_Shift_Del	DEL	C	TCGA-DU-8166-01A-11D-2253-08		19378063	87971477	31	4890											
RPGRIP1	57096	broad.mit.edu	37	chr14	21770676	21770676	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acaggctgagctacacagccCctccatcgtttaaggagcat	11	8	9	13	1	0	1	0	1	0	0	2	2	1	2	3	2	4	4	3	2	2	3			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr14:21770676C>G	uc001wag.3	+	3	520	c.520C>G	c.(520-522)Cct>Gct	p.P174A		NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	174					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CTACACAGCCCCTCCATCGTT	0.468													2	10					0	0	1	0	0	G	21770676	C	G	21770676	3	3	109	1	0	0	0	0	1	0	0	0	13549	623	22	5	534	5	RPGRIP1	14	21770676	Missense_Mutation	SNP	C	TCGA-DU-8166-01A-11D-2253-08	2392613	21770676	85578864	32	4891											
IGF1R	3480	broad.mit.edu	37	chr15	99456347	99456347	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaacatggtggacgtggAcctcccgcccaacaaggacg	10	5	13	13	3	0	0	0	0	0	0	1	4	1	4	3	5	2	0	3	5	3	0	rs45481994		TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr15:99456347A>G	uc002bul.3	+	7	1714	c.1664A>G	c.(1663-1665)gAc>gGc	p.D555G	IGF1R_uc010urq.2_Missense_Mutation_p.D555G|IGF1R_uc010bon.3_Missense_Mutation_p.D555G|IGF1R_uc010urr.1_Missense_Mutation_p.D5G	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	555	Fibronectin type-III 1.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GTGGACGTGGACCTCCCGCCC	0.537													4	43					0	0	1	0	0	G	99456347	A	G	99456347	3	3	109	1	0	0	0	0	1	0	0	0	7571	275	10	3	1694	3	IGF1R	15	99456347	Missense_Mutation	SNP	A	TCGA-DU-8166-01A-11D-2253-08		99456347	3075045	33	4892											
SLC9A5	6553	broad.mit.edu	37	chr16	67304913	67304913	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccaggtccctctccacCtaccttctgatccacgctct	6	10	5	20	1	3	1	0	1	3	0	6	1	5	1	7	1	2	1	7	1	1	2			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr16:67304913C>T	uc002esm.3	+	15	2554	c.2491C>T	c.(2491-2493)Cta>Tta	p.L831L	SLC9A5_uc010cee.3_Silent_p.L536L|SLC9A5_uc010vji.2_Silent_p.L335L	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA.	831					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CCCTCTCCACCTACCTTCTGA	0.657													16	42					0	0	1	0	0	T	67304913	C	T	67304913	2	4	109	1	0	0	0	0	0	0	0	1	14717	680	24	3		3	SLC9A5	16	67304913	Silent	SNP	C	TCGA-DU-8166-01A-11D-2253-08		67304913	23049840	34	4893											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			19	3					0	0	1	0	0	A	7577121	G	A	7577121	3	1	109	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08		7577121	73618089	35	4894											
NCOR1	9611	broad.mit.edu	37	chr17	15943763	15943763	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcaatcttacctgacgtaGtaactgctggcagattaaag	12	13	8	8	1	2	2	1	1	1	1	2	2	2	2	1	1	3	4	1	1	6	5			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr17:15943763G>C	uc002gpo.3	-	42	6994	c.6725C>G	c.(6724-6726)aCt>aGt	p.T2242S	NCOR1_uc002gpn.3_Missense_Mutation_p.T2139S|NCOR1_uc002gpl.3_Missense_Mutation_p.T257S|NCOR1_uc002gpm.3_Missense_Mutation_p.T762S|NCOR1_uc010vwb.2_Missense_Mutation_p.T826S|NCOR1_uc010coy.3_Missense_Mutation_p.T1150S	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	2242	ID2 (By similarity).|Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ACCTGACGTAGTAACTGCTGG	0.358													3	51					0	0	1	0	0	C	15943763	G	C	15943763	3	2	109	1	0	0	0	0	1	0	0	0	10235	1029	36	5	613	5	NCOR1	17	15943763	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08	8366642	15943763	65251447	36	4895											
MYO15A	51168	broad.mit.edu	37	chr17	18064731	18064731	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactcgcttcctccaagacGtgagccggaccccaggcctg	7	7	10	17	3	1	2	1	1	0	1	4	3	3	3	6	2	1	1	6	2	1	1			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr17:18064731G>A	uc021trm.1	+	55	9706	c.9487G>A	c.(9487-9489)Gtg>Atg	p.V3163M	MYO15A_uc021trl.1_Missense_Mutation_p.V3161M|MYO15A_uc010vxi.2_Missense_Mutation_p.V427M|MYO15A_uc010vxk.1_5'UTR|MYO15A_uc010vxl.1_Missense_Mutation_p.V152M|MYO15A_uc002gsl.3_Missense_Mutation_p.V170M|MYO15A_uc010vxm.2_Missense_Mutation_p.V85M|MYO15A_uc002gsm.1_Missense_Mutation_p.V85M|MYO15A_uc010cpv.3_Non-coding_Transcript	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	3163	MyTH4 2.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCTCCAAGACGTGAGCCGGAC	0.632													12	130					0	0	1	0	0	A	18064731	G	A	18064731	3	1	109	1	0	0	0	0	1	0	0	0	10063	1145	40	1	9705	1	MYO15A	17	18064731	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08	2120968	18064731	63130479	37	4896											
SIN3B	23309	broad.mit.edu	37	chr19	16973238	16973238	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttcgcgccacccatgagCgacagatccggggacgggat	8	6	13	14	5	0	2	0	1	0	1	3	5	2	4	4	3	1	0	4	3	0	1	rs150062565	byFrequency	TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr19:16973238C>T	uc002ney.2	+	8	1157	c.1134C>T	c.(1132-1134)agC>agT	p.S378S	SIN3B_uc002nez.2_Silent_p.S378S|SIN3B_uc010xpi.1_5'Flank	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	378	Interaction with NCOR1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CACCCATGAGCGACAGATCCG	0.517													4	95					0	0	1	0	0	T	16973238	C	T	16973238	2	4	109	1	0	0	0	0	0	0	0	1	14326	767	27	1		1	SIN3B	19	16973238	Silent	SNP	C	TCGA-DU-8166-01A-11D-2253-08		16973238	42155745	38	4897											
ZNF567	163081	broad.mit.edu	37	chr19	37210750	37210750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactgtgggaagtccttccGccagaagacaacactctctc	10	9	9	13	1	1	3	0	1	1	2	5	4	3	4	3	1	1	0	3	1	3	1			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr19:37210750G>A	uc010xtl.2	+	5	1346	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	ZNF567_uc002oeo.1_Missense_Mutation_p.R375H|ZNF567_uc010xtk.1_Missense_Mutation_p.R375H|ZNF567_uc002oep.4_Missense_Mutation_p.R344H|ZNF567_uc002oeq.1_Missense_Mutation_p.R344H	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	Homo sapiens zinc finger protein 567 (ZNF567), mRNA.	375					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A375S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAGTCCTTCCGCCAGAAGACA	0.443													6	75					0	0	1	0	0	A	37210750	G	A	37210750	3	1	109	1	0	0	0	0	1	0	0	0	17995	1087	38	1	1041	1	ZNF567	19	37210750	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08	20237512	37210750	21918233	39	4898											
TPRX1	284355	broad.mit.edu	37	chr19	48305133	48305133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttttttgcccatagagtcatCcccttcttggtactgagagg	7	15	9	10	0	2	2	1	1	1	2	3	3	3	2	3	2	2	1	3	2	2	7			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr19:48305133C>T	uc002php.2	-	1	1275	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N		NM_198479	NP_940881	Q8N7U7	TPRX1_HUMAN	Homo sapiens tetra-peptide repeat homeobox 1 (TPRX1), mRNA.	379						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		ATAGAGTCATCCCCTTCTTGG	0.512													12	158					0	0	1	0	0	T	48305133	C	T	48305133	3	4	109	1	0	0	0	0	1	0	0	0	16419	855	30	3	104	3	TPRX1	19	48305133	Missense_Mutation	SNP	C	TCGA-DU-8166-01A-11D-2253-08	11094383	48305133	10823850	40	4899											
TTLL9	164395	broad.mit.edu	37	chr20	30486368	30486368	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgggtggaagtgaaggAgtaagaccctccccccagcc	11	5	14	11	0	0	2	0	1	0	1	1	5	1	5	5	4	1	1	5	4	3	1			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr20:30486368A>C	uc010gdx.1	+	4	459	c.206_splice	c.e4+1	p.D69_splice	TTLL9_uc002wwy.1_Splice_Site|TTLL9_uc002wwz.1_Splice_Site|TTLL9_uc002wxa.1_Splice_Site|TTLL9_uc002wxb.1_Splice_Site|TTLL9_uc010zto.1_Splice_Site|TTLL9_uc002wxc.2_Splice_Site_p.G78_splice|TTLL9_uc010ztp.1_Splice_Site|U1_uc021wbu.1_5'Flank	NM_001008409	NP_001008409	Q3SXZ7	TTLL9_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 9 (TTLL9), mRNA.	69	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GAAGTGAAGGAGTAAGACCCT	0.562													23	35					0	0	1	0	0	C	30486368	A	C	30486368	5	2	109	1	0	0	0	0	0	0	1	0	16731	318	11	5	216	5	TTLL9	20	30486368	Splice_Site	SNP	A	TCGA-DU-8166-01A-11D-2253-08		30486368	32539152	41	4900											
GGT1	2678	broad.mit.edu	37	chr22	25016936	25016936	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggagagactgaccctgcCgcagctggctgacacctacg	8	5	15	13	2	0	3	0	2	0	1	0	5	0	4	3	3	3	3	3	3	1	1			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr22:25016936C>T	uc003aan.1	+	8	1119	c.632C>T	c.(631-633)cCg>cTg	p.P211L	GGT1_uc003aas.1_Missense_Mutation_p.P211L|GGT1_uc003aat.1_Missense_Mutation_p.P211L|GGT1_uc003aau.2_Missense_Mutation_p.P211L|GGT1_uc003aav.2_Missense_Mutation_p.P211L|GGT1_uc003aaw.2_Missense_Mutation_p.P211L|GGT1_uc003aax.2_Missense_Mutation_p.P211L	NM_013430	NP_038347	P19440	GGT1_HUMAN	Homo sapiens gamma-glutamyltransferase 1 (GGT1), transcript variant 3, mRNA.	211					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CTGACCCTGCCGCAGCTGGCT	0.647													3	50					0	0	1	0	0	T	25016936	C	T	25016936	3	4	109	1	0	0	0	0	1	0	0	0	6361	652	23	2	650	2	GGT1	22	25016936	Missense_Mutation	SNP	C	TCGA-DU-8166-01A-11D-2253-08		25016936	26287630	42	4901											
SEZ6L	23544	broad.mit.edu	37	chr22	26707829	26707829	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggactatagtggagttcAcctgcgaccccggccactcc	7	9	11	14	2	1	0	1	0	0	0	2	3	2	2	5	3	1	1	5	3	2	4			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr22:26707829A>G	uc003acb.3	+	7	1973	c.1777A>G	c.(1777-1779)Acc>Gcc	p.T593A	SEZ6L_uc003acd.3_Missense_Mutation_p.T593A|SEZ6L_uc011akd.2_Missense_Mutation_p.T593A|SEZ6L_uc003ace.3_Missense_Mutation_p.T593A|SEZ6L_uc011akc.2_Missense_Mutation_p.T593A|SEZ6L_uc003acc.3_Missense_Mutation_p.T593A|SEZ6L_uc003acf.1_Missense_Mutation_p.T366A|SEZ6L_uc010gvc.1_Missense_Mutation_p.T366A	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	593	Sushi 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AGTGGAGTTCACCTGCGACCC	0.562													84	170					0	0	1	0	0	G	26707829	A	G	26707829	3	3	109	1	0	0	0	0	1	0	0	0	14143	159	6	3	1807	3	SEZ6L	22	26707829	Missense_Mutation	SNP	A	TCGA-DU-8166-01A-11D-2253-08	1690893	26707829	24596737	43	4902											
WWC3	55841	broad.mit.edu	37	chrX	10090693	10090693	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagacagtgccaagaggttGgagaggagggcacgccgcat	12	4	17	8	2	0	3	0	0	0	3	0	6	0	4	2	4	1	3	2	4	2	1			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chrX:10090693G>T	uc004csx.4	+	11	1863	c.1665G>T	c.(1663-1665)ttG>ttT	p.L555F	WWC3_uc010nds.3_Missense_Mutation_p.L219F|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	555										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CCAAGAGGTTGGAGAGGAGGG	0.552													17	478					3.51602e-12	4.1275e-12	1	1	0	T	10090693	G	T	10090693	3	4	109	1	0	0	0	0	1	0	0	0	17410	1339	47	5	1707	5	WWC3	23	10090693	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08		10090693	145179867	44	4903											
ZNF41	7592	broad.mit.edu	37	chrX	47315320	47315320	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggtcatgctcactcacCtgaacagctctgatgtgggg	7	11	12	11	0	5	2	3	2	2	0	5	2	5	2	1	3	3	2	1	3	1	0			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chrX:47315320C>A	uc004dhs.4	-	3	488	c.421_splice	c.e3+1	p.G141_splice	ZNF41_uc004dhu.4_Splice_Site_p.G133_splice|ZNF41_uc004dht.4_Splice_Site_p.G13_splice|ZNF41_uc004dhv.4_Splice_Site_p.G109_splice|ZNF41_uc004dhw.4_Splice_Site_p.G101_splice|ZNF41_uc004dhy.4_Splice_Site_p.G99_splice|ZNF41_uc004dhx.4_Splice_Site_p.G99_splice|ZNF41_uc011mlm.2_Splice_Site_p.G13_splice|ZNF41_uc004dhz.3_Splice_Site|ZNF41_uc004dia.3_Splice_Site	NM_153380	NP_700359	P51814	ZNF41_HUMAN	Homo sapiens zinc finger protein 41 (ZNF41), transcript variant 2, mRNA.	141						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				GCTCACTCACCTGAACAGCTC	0.522													8	74					0.0477658	0.048667	1	1	0	A	47315320	C	A	47315320	5	1	109	1	0	0	0	0	0	0	1	0	17886	695	24	5	2052	5	ZNF41	23	47315320	Splice_Site	SNP	C	TCGA-DU-8166-01A-11D-2253-08	37224627	47315320	107955240	45	4904											
ATRX	546	broad.mit.edu	37	chrX	76940087	76940087	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccttccgcacaccaccTgaaatgttttaaagattaaa	14	11	4	12	1	0	2	0	1	0	1	2	2	2	2	5	0	0	2	5	0	5	4			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chrX:76940087T>C	uc004ecp.4	-	9	895	c.663_splice	c.e9-1	p.R221_splice	ATRX_uc004ecq.4_Splice_Site_p.R183_splice|ATRX_uc004eco.4_Splice_Site_p.R6_splice|ATRX_uc004ecr.2_Splice_Site_p.R182_splice|ATRX_uc010nlx.1_Splice_Site_p.R221_splice|ATRX_uc010nly.1_Intron	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	221	ADD.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GCACACCACCTGAAATGTTTT	0.333			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						44	94					0	0	1	0	0	C	76940087	T	C	76940087	5	2	109	1	0	0	0	0	0	0	1	0	1208	1594	55	4	6925	4	ATRX	23	76940087	Splice_Site	SNP	T	TCGA-DU-8166-01A-11D-2253-08	29624767	76940087	78330473	46	4905											
CXorf48	54967	broad.mit.edu	37	chrX	134303695	134303695	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccctgcacagttgtcaactgGgtgtcacctacaagataaag	12	9	9	11	0	2	1	2	0	0	1	2	1	2	1	2	1	3	2	2	1	5	3			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chrX:134303695G>C	uc004eyk.1	-	1	758	c.102C>G	c.(100-102)acC>acG	p.T34T	CXorf48_uc004eyl.1_Silent_p.T34T	NM_001031705	NP_001026875	Q8WUE5	CX048_HUMAN	Homo sapiens chromosome X open reading frame 48 (CXorf48), transcript variant 1, mRNA.	34										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					TTGTCAACTGGGTGTCACCTA	0.433													16	31					0	0	1	0	0	C	134303695	G	C	134303695	2	2	109	1	0	0	0	0	0	0	0	1	4111	1219	43	5		5	CXorf48	23	134303695	Silent	SNP	G	TCGA-DU-8166-01A-11D-2253-08	57363608	134303695	20966865	47	4906											
MCF2	4168	broad.mit.edu	37	chrX	138689854	138689854	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aataaataaaggatacttctTtaaaacatccaagctattgc	18	12	4	7	0	1	0	0	0	1	0	2	1	2	1	1	1	4	1	1	1	10	8			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chrX:138689854T>G	uc011mwn.1	-	14	1927	c.1921A>C	c.(1921-1923)Aag>Cag	p.K641Q	MCF2_uc004fav.3_Missense_Mutation_p.K512Q|MCF2_uc004fau.3_Missense_Mutation_p.K496Q|MCF2_uc010nsh.2_Missense_Mutation_p.K496Q|MCF2_uc011mwm.2_Missense_Mutation_p.K457Q|MCF2_uc011mwl.2_Missense_Mutation_p.K473Q|MCF2_uc011mwo.1_Missense_Mutation_p.K572Q|MCF2_uc004faw.2_Missense_Mutation_p.K556Q	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	496	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	Rho guanyl-nucleotide exchange factor activity|protein binding	p.L641L(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GGATACTTCTTTAAAACATCC	0.373													4	53					0	0	1	0	0	G	138689854	T	G	138689854	3	3	109	1	0	0	0	0	1	0	0	0	9378	1850	64	5	1375	5	MCF2	23	138689854	Missense_Mutation	SNP	T	TCGA-DU-8166-01A-11D-2253-08	4386159	138689854	16580706	48	4907											
HSPG2	3339	broad.mit.edu	37	chr1	22162039	22162039	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccaccctcctaccttggaTaaccagctgggcactggcct	8	8	9	16	0	0	0	0	0	0	0	1	1	1	1	6	3	4	2	6	3	2	3			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr1:22162039T>C	uc009vqd.3	-	75	10490	c.10450A>G	c.(10450-10452)Atc>Gtc	p.I3484V	HSPG2_uc001bfj.3_Missense_Mutation_p.I3483V	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	3483	Ig-like C2-type 20.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CTACCTTGGATAACCAGCTGG	0.562													9	29					0	0	1	0	0	C	22162039	T	C	22162039	3	2	110	1	0	0	0	0	1	0	0	0	7430	1406	49	3	2816	3	HSPG2	1	22162039	Missense_Mutation	SNP	T	TCGA-DU-8167-01A-11D-2253-08		22162039	227088582	1	4908											
SEPN1	57190	broad.mit.edu	37	chr1	26135530	26135530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccccaggtcatcatccaccGgctcctgagcatgttccacc	7	8	7	19	1	2	1	2	1	0	0	5	1	5	1	7	2	1	3	7	2	0	1			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr1:26135530G>A	uc021ojk.1	+	5	816	c.761G>A	c.(760-762)cGg>cAg	p.R254Q	SEPN1_uc021ojl.1_Missense_Mutation_p.R220Q	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN	Homo sapiens selenoprotein N, 1 (SEPN1), transcript variant 1, mRNA.	254						endoplasmic reticulum membrane|extracellular region	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		ATCATCCACCGGCTCCTGAGC	0.667													16	106					0	0	1	0	0	A	26135530	G	A	26135530	3	1	110	1	0	0	0	0	1	0	0	0	14056	1116	39	2	783	2	SEPN1	1	26135530	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	3973491	26135530	223115091	2	4909											
PALMD	54873	broad.mit.edu	37	chr1	100133315	100133315	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccaggttctagaacaaagtAtcctcaggtatggccctcac	11	10	8	12	0	3	1	2	0	1	1	5	1	5	1	3	3	1	3	3	3	5	4			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr1:100133315A>G	uc001dsg.3	+	2	687	c.244A>G	c.(244-246)Atc>Gtc	p.I82V		NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	Homo sapiens palmdelphin (PALMD), mRNA.	82					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		AGAACAAAGTATCCTCAGGTA	0.433													12	139					0	0	1	0	0	G	100133315	A	G	100133315	3	3	110	1	0	0	0	0	1	0	0	0	11411	449	16	3	254	3	PALMD	1	100133315	Missense_Mutation	SNP	A	TCGA-DU-8167-01A-11D-2253-08	73997785	100133315	149117306	3	4910											
ADAM30	11085	broad.mit.edu	37	chr1	120438457	120438457	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttaagccacaaacctgattcCcaaactgctctttcttcagg	11	12	5	13	0	3	1	1	1	2	0	4	1	4	1	3	1	4	1	3	1	3	4			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr1:120438457C>G	uc001eij.3	-	0	691	c.503G>C	c.(502-504)gGg>gCg	p.G168A		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	168					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.G168W(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AACCTGATTCCCAAACTGCTC	0.438													36	49					0	0	1	0	0	G	120438457	C	G	120438457	3	3	110	1	0	0	0	0	1	0	0	0	248	623	22	5	1873	5	ADAM30	1	120438457	Missense_Mutation	SNP	C	TCGA-DU-8167-01A-11D-2253-08	20305142	120438457	128812164	4	4911											
OR2G3	81469	broad.mit.edu	37	chr1	247769424	247769424	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggctggaccattttatttgCgaagtaccagctcttctcaa	10	13	8	10	1	2	0	1	0	2	0	3	2	2	1	2	2	3	3	2	2	4	5	rs144392521		TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr1:247769424C>T	uc010pyz.2	+	0	537	c.537C>T	c.(535-537)tgC>tgT	p.C179C		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATTTTATTTGCGAAGTACCAG	0.453													15	75					0	0	1	0	0	T	247769424	C	T	247769424	2	4	110	1	0	0	0	0	0	0	0	1	10999	776	27	1		1	OR2G3	1	247769424	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08	127330967	247769424	1481197	5	4912											
APOB	338	broad.mit.edu	37	chr2	21250764	21250764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagcatgctttctttaGgaaggtagttatttggatca	9	18	9	5	0	3	0	2	0	1	0	3	2	3	2	0	3	2	4	0	3	4	8			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr2:21250764G>A	uc002red.3	-	13	2131	c.2003C>T	c.(2002-2004)cCt>cTt	p.P668L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	668	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCTTTCTTTAGGAAGGTAGTT	0.418													17	62					0	0	1	0	0	A	21250764	G	A	21250764	3	1	110	1	0	0	0	0	1	0	0	0	785	1000	35	3	11752	3	APOB	2	21250764	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08		21250764	221948609	6	4913											
C2orf71	388939	broad.mit.edu	37	chr2	29287763	29287763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcttgctggggctgcGcctctggctgggatttgtcc	1	13	13	14	1	2	0	0	0	2	0	4	1	4	1	4	4	2	3	4	4	0	2			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr2:29287763G>A	uc002rmt.2	-	1	3839	c.3839C>T	c.(3838-3840)gCg>gTg	p.A1280V		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	1280					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTGGGGCTGCGCCTCTGGCTG	0.657													14	30					0	0	1	0	0	A	29287763	G	A	29287763	3	1	110	1	0	0	0	0	1	0	0	0	2191	1087	38	1	31	1	C2orf71	2	29287763	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	8036999	29287763	213911610	7	4914											
PLA2R1	22925	broad.mit.edu	37	chr2	160832717	160832717	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggtattctgcatcctgAtaaaagagccagggtacatc	15	9	9	8	0	1	2	0	1	1	1	3	2	2	2	2	2	3	3	2	2	6	4			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr2:160832717A>G	uc002ube.2	-	16	2669	c.2457T>C	c.(2455-2457)taT>taC	p.Y819Y	PLA2R1_uc010zcp.2_Silent_p.Y819Y|PLA2R1_uc002ubf.3_Silent_p.Y819Y	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	819	C-type lectin 5.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CTGCATCCTGATAAAAGAGCC	0.383													11	24					0	0	1	0	0	G	160832717	A	G	160832717	2	3	110	1	0	0	0	0	0	0	0	1	12010	340	12	3		3	PLA2R1	2	160832717	Silent	SNP	A	TCGA-DU-8167-01A-11D-2253-08	131544954	160832717	82366656	8	4915											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								37	68					0	0	1	0	0	T	209113112	C	T	209113112	3	4	110	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-8167-01A-11D-2253-08	48280395	209113112	34086261	9	4916											
TMPRSS11E	28983	broad.mit.edu	37	chr4	69343128	69343128	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactgcttcctttggagtaaCaataaaaccttcgaaaatga	15	11	7	8	1	0	1	0	1	0	0	2	4	1	2	2	1	3	2	2	1	6	5			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr4:69343128C>A	uc003hdz.4	+	7	813	c.749C>A	c.(748-750)aCa>aAa	p.T250K		NM_014058	NP_054777	Q9UL52	TM11E_HUMAN	Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.	250	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.T250I(4)		endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TTTGGAGTAACAATAAAACCT	0.368													33	202					3.90053e-15	4.17914e-15	1	1	0	A	69343128	C	A	69343128	3	1	110	1	0	0	0	0	1	0	0	0	16239	478	17	5	779	5	TMPRSS11E	4	69343128	Missense_Mutation	SNP	C	TCGA-DU-8167-01A-11D-2253-08		69343128	121811148	10	4917											
IGJ	3512	broad.mit.edu	37	chr4	71522083	71522083	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctggggttaaggctgttTccaccattttggtctcacca	7	14	9	11	0	2	0	1	0	2	0	4	0	3	0	3	4	0	3	3	4	1	4			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr4:71522083T>C	uc010ihz.3	-	4	632	c.491A>G	c.(490-492)gAa>gGa	p.E164G	IGJ_uc003hfn.4_Missense_Mutation_p.E148G	NM_144646	NP_653247	P01591	IGJ_HUMAN	Homo sapiens immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides (IGJ), mRNA.	148					immune response	extracellular region	antigen binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			TAAGGCTGTTTCCACCATTTT	0.448													12	70					0	0	1	0	0	C	71522083	T	C	71522083	3	2	110	1	0	0	0	0	1	0	0	0	7592	1783	62	3	40	3	IGJ	4	71522083	Missense_Mutation	SNP	T	TCGA-DU-8167-01A-11D-2253-08	2178955	71522083	119632193	11	4918											
MFSD8	256471	broad.mit.edu	37	chr4	128851943	128851943	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgttcttgagtccaggcaTacatatccattgttaatgga	10	15	8	8	0	1	1	0	1	1	0	3	2	3	2	2	2	1	3	2	2	3	7			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr4:128851943T>C	uc003ifp.3	-	9	1056	c.893A>G	c.(892-894)tAt>tGt	p.Y298C	MFSD8_uc011cgu.2_Missense_Mutation_p.Y253C|MFSD8_uc011cgv.1_Missense_Mutation_p.Y260C|MFSD8_uc011cgw.1_Non-coding_Transcript|MFSD8_uc011cgx.1_3'UTR	NM_152778	NP_689991	Q8NHS3	MFSD8_HUMAN	Homo sapiens major facilitator superfamily domain containing 8 (MFSD8), mRNA.	298					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						AGTCCAGGCATACATATCCAT	0.318													8	151					0	0	1	0	0	C	128851943	T	C	128851943	3	2	110	1	0	0	0	0	1	0	0	0	9538	1406	49	3	679	3	MFSD8	4	128851943	Missense_Mutation	SNP	T	TCGA-DU-8167-01A-11D-2253-08	57329860	128851943	62302333	12	4919											
NEK1	4750	broad.mit.edu	37	chr4	170428878	170428878	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctataccttcagtgattcGatttttttgcgcctcatgtc	6	18	7	10	2	3	1	2	1	1	0	5	2	3	1	2	0	2	0	2	0	2	7			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr4:170428878G>A	uc003isd.2	-	21	2477	c.1899C>T	c.(1897-1899)atC>atT	p.I633I	NEK1_uc003ise.2_Silent_p.I589I|NEK1_uc003isb.2_Silent_p.I605I|NEK1_uc003isc.2_Silent_p.I561I|NEK1_uc003isf.2_Silent_p.I536I	NM_001199397	NP_001186326	Q96PY6	NEK1_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 1 (NEK1), transcript variant 1, mRNA.	605					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCAGTGATTCGATTTTTTTGC	0.338													7	45					0	0	1	0	0	A	170428878	G	A	170428878	2	1	110	1	0	0	0	0	0	0	0	1	10321	1048	37	2		2	NEK1	4	170428878	Silent	SNP	G	TCGA-DU-8167-01A-11D-2253-08	41576935	170428878	20725398	13	4920											
NUP155	9631	broad.mit.edu	37	chr5	37351324	37351324	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcatataaacagccatcctTtccagccaagaaaattctgc	14	11	4	12	0	2	1	1	0	1	1	4	1	4	1	4	0	4	0	4	0	6	5			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr5:37351324T>C	uc003jku.1	-	5	809	c.691A>G	c.(691-693)Aag>Gag	p.K231E	NUP155_uc003jkt.1_Missense_Mutation_p.K172E|NUP155_uc010iuz.1_Missense_Mutation_p.K231E	NM_153485	NP_004289	O75694	NU155_HUMAN	Homo sapiens nucleoporin 155kDa (NUP155), transcript variant 1, mRNA.	231					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGCCATCCTTTCCAGCCAAG	0.353													11	71					0	0	1	0	0	C	37351324	T	C	37351324	3	2	110	1	0	0	0	0	1	0	0	0	10756	1850	64	3	3604	3	NUP155	5	37351324	Missense_Mutation	SNP	T	TCGA-DU-8167-01A-11D-2253-08		37351324	143563936	14	4921											
RASGRF2	5924	broad.mit.edu	37	chr5	80366346	80366346	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaccaaagaacgaatgcgAccttaccaaagcaaccaaga	21	3	6	11	2	0	2	0	0	0	2	0	4	0	2	4	0	6	1	4	0	9	1			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr5:80366346A>G	uc003kha.2	+	3	629	c.579A>G	c.(577-579)cgA>cgG	p.R193R	RASGRF2_uc011ctn.2_Non-coding_Transcript|RASGRF2_uc003khb.1_Silent_p.R21R	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	193					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AACGAATGCGACCTTACCAAA	0.423													29	65					0	0	1	0	0	G	80366346	A	G	80366346	2	3	110	1	0	0	0	0	0	0	0	1	13073	262	10	3		3	RASGRF2	5	80366346	Silent	SNP	A	TCGA-DU-8167-01A-11D-2253-08	43015022	80366346	100548914	15	4922											
FBXL17	64839	broad.mit.edu	37	chr5	107197443	107197443	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggaggaggcggcagacatgTtgggggtccagcccatctga	9	6	17	9	1	1	2	0	1	1	1	2	4	2	4	2	6	1	2	2	6	0	1			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr5:107197443T>C	uc011cvc.2	-	8	2491	c.2084A>G	c.(2083-2085)aAc>aGc	p.N695S		NM_001163315	NP_001156787	Q9UF56	FXL17_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 17 (FBXL17), mRNA.	695										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		GGCAGACATGTTGGGGGTCCA	0.582													5	77					0	0	1	0	0	C	107197443	T	C	107197443	3	2	110	1	0	0	0	0	1	0	0	0	5713	1725	60	3	25	3	FBXL17	5	107197443	Missense_Mutation	SNP	T	TCGA-DU-8167-01A-11D-2253-08	26831097	107197443	73717817	16	4923											
IL12B	3593	broad.mit.edu	37	chr5	158753714	158753714	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggttaccatctttcttcAgttcccatatggccacgagg	7	13	9	12	1	3	0	1	0	2	0	4	1	4	0	3	3	1	3	3	3	2	5			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr5:158753714A>G	uc003lxr.1	-	1	119	c.77T>C	c.(76-78)cTg>cCg	p.L26P		NM_002187	NP_002178	P29460	IL12B_HUMAN	Homo sapiens interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) (IL12B), mRNA.	26	Ig-like C2-type.				T-helper 1 type immune response|T-helper cell differentiation|cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCTTTCTTCAGTTCCCATAT	0.502													8	60					0	0	1	0	0	G	158753714	A	G	158753714	3	3	110	1	0	0	0	0	1	0	0	0	7625	188	7	4	933	4	IL12B	5	158753714	Missense_Mutation	SNP	A	TCGA-DU-8167-01A-11D-2253-08	51556271	158753714	22161546	17	4924											
SLC17A4	10050	broad.mit.edu	37	chr6	25779395	25779395	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcaggactgggctaaagaGcagacattcacccacctctg	11	7	11	12	0	2	2	1	0	1	2	2	3	2	3	2	2	2	3	2	2	2	2			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr6:25779395G>A	uc003nfe.3	+	11	1592	c.1473G>A	c.(1471-1473)gaG>gaA	p.E491E	SLC17A4_uc011djx.2_Silent_p.E261E|SLC17A4_uc003nfg.3_Silent_p.E428E|SLC17A4_uc010jqa.3_3'UTR	NM_005495	NP_005486	Q9Y2C5	S17A4_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 4 (SLC17A4), mRNA.	491					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGGCTAAAGAGCAGACATTCA	0.478													48	106					0	0	1	0	0	A	25779395	G	A	25779395	2	1	110	1	0	0	0	0	0	0	0	1	14419	962	34	3		3	SLC17A4	6	25779395	Silent	SNP	G	TCGA-DU-8167-01A-11D-2253-08		25779395	145335672	18	4925											
GNL1	2794	broad.mit.edu	37	chr6	30514076	30514076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctccgtggtctctggatGggactcccaggtgcctgggg	4	9	16	12	1	1	0	0	0	1	0	4	2	3	2	3	6	2	1	3	6	0	0			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr6:30514076G>A	uc003nqh.3	-	11	2988	c.1597C>T	c.(1597-1599)Cat>Tat	p.H533Y	GNL1_uc011dmi.2_Missense_Mutation_p.H330Y|GNL1_uc011dmj.2_Missense_Mutation_p.H531Y|GNL1_uc011dmk.2_Missense_Mutation_p.H188Y	NM_005275	NP_005266	P36915	GNL1_HUMAN	Homo sapiens guanine nucleotide binding protein-like 1 (GNL1), mRNA.	533					T cell mediated immunity|response to DNA damage stimulus|signal transduction	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GTCTCTGGATGGGACTCCCAG	0.547													5	11					0	0	1	0	0	A	30514076	G	A	30514076	3	1	110	1	0	0	0	0	1	0	0	0	6535	1348	47	3	230	3	GNL1	6	30514076	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	4734681	30514076	140600991	19	4926											
LY6G5C	80741	broad.mit.edu	37	chr6	31644773	31644773	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgttttgagggtcattgcaGaaatccaggaagcagtattg	11	12	12	6	0	1	2	1	1	0	1	2	3	2	3	1	2	2	4	1	2	3	5			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr6:31644773G>A	uc003nvu.2	-	2	414	c.414C>T	c.(412-414)ttC>ttT	p.F138F	LY6G5C_uc003nvw.1_Non-coding_Transcript|LY6G5C_uc010jtb.1_Non-coding_Transcript	NM_025262	NP_079538	Q5SRR4	LY65C_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G5C (LY6G5C), mRNA.	138	UPAR/Ly6.					extracellular region				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	7						GGTCATTGCAGAAATCCAGGA	0.463													14	84					0	0	1	0	0	A	31644773	G	A	31644773	2	1	110	1	0	0	0	0	0	0	0	1	9093	933	33	3		3	LY6G5C	6	31644773	Silent	SNP	G	TCGA-DU-8167-01A-11D-2253-08	1130697	31644773	139470294	20	4927											
RGL2	5863	broad.mit.edu	37	chr6	33260297	33260297	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggacacgactgatgacacTtggagccttgtcctggcttg	9	10	12	10	1	0	2	0	2	0	0	1	5	1	4	2	3	1	1	2	3	1	3			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr6:33260297T>C	uc003odv.3	-	16	2592	c.2032A>G	c.(2032-2034)Agt>Ggt	p.S678G	WDR46_uc011dra.2_5'Flank|WDR46_uc003ods.3_5'Flank|RGL2_uc003odu.3_Missense_Mutation_p.S238G|RGL2_uc010jur.3_Missense_Mutation_p.S238G|RGL2_uc003odw.3_Missense_Mutation_p.S596G	NM_004761	NP_001230667	O15211	RGL2_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 2 (RGL2), transcript variant 1, mRNA.	678	Ras-associating.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CTGATGACACTTGGAGCCTTG	0.522													16	110					0	0	1	0	0	C	33260297	T	C	33260297	3	2	110	1	0	0	0	0	1	0	0	0	13277	1609	56	4	309	4	RGL2	6	33260297	Missense_Mutation	SNP	T	TCGA-DU-8167-01A-11D-2253-08	1615524	33260297	137854770	21	4928											
GPR116	221395	broad.mit.edu	37	chr6	46847698	46847698	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaagacacattggaggacAaaacttccttttcacacacc	14	8	6	13	0	1	1	1	0	0	1	2	3	2	3	3	2	1	0	3	2	3	4			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr6:46847698A>G	uc003oyo.3	-	8	1182	c.893T>C	c.(892-894)tTg>tCg	p.L298S	GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Missense_Mutation_p.L298S|GPR116_uc010jzi.1_5'UTR|GPR116_uc003oyr.2_Missense_Mutation_p.L298S	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	298	Ig-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ATTGGAGGACAAAACTTCCTT	0.423													16	100					0	0	1	0	0	G	46847698	A	G	46847698	3	3	110	1	0	0	0	0	1	0	0	0	6633	131	5	3	3199	3	GPR116	6	46847698	Missense_Mutation	SNP	A	TCGA-DU-8167-01A-11D-2253-08	13587401	46847698	124267369	22	4929											
ANKMY2	57037	broad.mit.edu	37	chr7	16650366	16650366	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcttctgtcagcagaggaTtctcatttacaagcatcacg	10	13	7	11	1	5	1	3	0	3	1	6	2	5	2	0	1	3	2	0	1	2	5			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr7:16650366T>C	uc003sti.3	-	5	798	c.554A>G	c.(553-555)aAt>aGt	p.N185S	ANKMY2_uc010ktz.3_Non-coding_Transcript	NM_020319	NP_064715	Q8IV38	ANKY2_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 2 (ANKMY2), mRNA.	185						cilium	zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CAGCAGAGGATTCTCATTTAC	0.378													12	70					0	0	1	0	0	C	16650366	T	C	16650366	3	2	110	1	0	0	0	0	1	0	0	0	635	1493	52	3	791	3	ANKMY2	7	16650366	Missense_Mutation	SNP	T	TCGA-DU-8167-01A-11D-2253-08		16650366	142488297	23	4930											
MYOM2	9172	broad.mit.edu	37	chr8	2048769	2048769	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccctgtttctggatatttCgtggacttcagggaggagga	8	12	14	7	1	2	0	1	0	1	0	3	5	2	5	1	5	1	1	1	5	1	4			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr8:2048769C>T	uc003wpx.4	+	19	2682	c.2544C>T	c.(2542-2544)ttC>ttT	p.F848F	MYOM2_uc011kwi.2_Silent_p.F273F	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	848	Fibronectin type-III 5.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTGGATATTTCGTGGACTTCA	0.542													9	60					0	0	1	0	0	T	2048769	C	T	2048769	2	4	110	1	0	0	0	0	0	0	0	1	10092	883	31	2		2	MYOM2	8	2048769	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08		2048769	144315253	24	4931											
NPBWR1	2831	broad.mit.edu	37	chr8	53852887	53852887	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctacctggtggtgttggcCactgcggagtcgcgccgggt	3	9	17	12	5	0	0	0	0	0	0	1	1	0	1	3	5	2	2	3	5	1	2			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr8:53852887C>T	uc011ldu.2	+	0	420	c.420C>T	c.(418-420)gcC>gcT	p.A140A		NM_005285	NP_005276	P48145	NPBW1_HUMAN	Homo sapiens neuropeptides B/W receptor 1 (NPBWR1), mRNA.	140					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				TGGTGTTGGCCACTGCGGAGT	0.662													7	42					0	0	1	0	0	T	53852887	C	T	53852887	2	4	110	1	0	0	0	0	0	0	0	1	10568	581	21	3		3	NPBWR1	8	53852887	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08	51804118	53852887	92511135	25	4932											
ZHX1	11244	broad.mit.edu	37	chr8	124266694	124266694	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcaggcctgttattttcAtaagtctgataatttctgaa	10	17	7	7	1	4	2	2	2	2	0	5	2	4	2	1	1	0	1	1	1	4	6			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr8:124266694A>G	uc003yqe.3	-	2	2103	c.1493T>C	c.(1492-1494)aTg>aCg	p.M498T	C8orf76_uc003yqd.3_Intron|ZHX1_uc003yqf.3_Missense_Mutation_p.M498T|ZHX1_uc003yqg.3_Intron|ZHX1_uc010mdi.3_Missense_Mutation_p.M498T|ZHX1_uc022bak.1_Missense_Mutation_p.M498T	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	Homo sapiens zinc fingers and homeoboxes 1 (ZHX1), transcript variant 2, mRNA.	498	Required for interaction with NFYA.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TGTTATTTTCATAAGTCTGAT	0.358													18	221					0	0	1	0	0	G	124266694	A	G	124266694	3	3	110	1	0	0	0	0	1	0	0	0	17672	217	8	3	1132	3	ZHX1	8	124266694	Missense_Mutation	SNP	A	TCGA-DU-8167-01A-11D-2253-08	70413807	124266694	22097328	26	4933											
SH3GL2	6456	broad.mit.edu	37	chr9	17747099	17747099	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggaggagctgaaggaacCaagctagatgatgacttcaa	14	8	13	6	0	1	4	1	3	0	1	1	7	1	7	1	3	3	3	1	3	5	3			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr9:17747099C>T	uc003zna.3	+	1	369	c.81C>T	c.(79-81)acC>acT	p.T27T	SH3GL2_uc011lmx.1_5'UTR|SH3GL2_uc011lmy.2_5'UTR	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	Homo sapiens SH3-domain GRB2-like 2 (SH3GL2), mRNA.	27	BAR.|Binds and tubulates liposomes (By similarity).				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	Golgi membrane|cytosol|plasma membrane	identical protein binding|lipid binding	p.T27A(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		CTGAAGGAACCAAGCTAGATG	0.363													5	50					0	0	1	0	0	T	17747099	C	T	17747099	2	4	110	1	0	0	0	0	0	0	0	1	14251	581	21	3		3	SH3GL2	9	17747099	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08		17747099	123466332	27	4934											
ACO1	48	broad.mit.edu	37	chr9	32436370	32436370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaagcaggcaccacagaCtatccatctgccttctgggg	11	7	10	13	0	2	1	0	0	2	1	3	2	3	1	3	3	3	2	3	3	3	2			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr9:32436370C>T	uc003zqw.4	+	17	2377	c.2222C>T	c.(2221-2223)aCt>aTt	p.T741I	ACO1_uc010mjh.1_3'UTR|ACO1_uc003zqx.4_Missense_Mutation_p.T741I|ACO1_uc003zqy.4_Non-coding_Transcript	NM_002197	NP_002188	P21399	ACOC_HUMAN	Homo sapiens aconitase 1, soluble (ACO1), mRNA.	741					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	Golgi apparatus|cytosol|endoplasmic reticulum	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		GCACCACAGACTATCCATCTG	0.483													6	196					0	0	1	0	0	T	32436370	C	T	32436370	3	4	110	1	0	0	0	0	1	0	0	0	146	565	20	3	2288	3	ACO1	9	32436370	Missense_Mutation	SNP	C	TCGA-DU-8167-01A-11D-2253-08	14689271	32436370	108777061	28	4935											
TMEM2	23670	broad.mit.edu	37	chr9	74359988	74359988	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgttcctggatcatctggAtggttccttgtaagagactt	8	14	10	9	1	2	1	1	0	1	1	4	4	4	3	3	3	0	3	3	3	1	5			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr9:74359988A>G	uc011lsa.1	-	3	1520	c.980T>C	c.(979-981)aTc>aCc	p.I327T	TMEM2_uc010mos.2_Missense_Mutation_p.I327T|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	327						integral to membrane		p.T326T(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GATCATCTGGATGGTTCCTTG	0.522													10	190					0	0	1	0	0	G	74359988	A	G	74359988	3	3	110	1	0	0	0	0	1	0	0	0	16118	333	12	3	3255	3	TMEM2	9	74359988	Missense_Mutation	SNP	A	TCGA-DU-8167-01A-11D-2253-08	41923618	74359988	66853443	29	4936											
TRPM6	140803	broad.mit.edu	37	chr9	77435241	77435241	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatccctgtgaaccatacaCtccattagaatttggaaaag	15	10	6	10	0	0	2	0	1	0	1	2	3	2	3	3	1	2	0	3	1	7	3			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr9:77435241C>T	uc004ajl.1	-	8	1351	c.1113G>A	c.(1111-1113)gaG>gaA	p.E371E	TRPM6_uc004ajk.1_Silent_p.E366E|TRPM6_uc022bib.1_Silent_p.E366E|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Silent_p.E371E|TRPM6_uc010mpd.1_Silent_p.E371E|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	371					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GAACCATACACTCCATTAGAA	0.363													20	72					0	0	1	0	0	T	77435241	C	T	77435241	2	4	110	1	0	0	0	0	0	0	0	1	16587	564	20	3		3	TRPM6	9	77435241	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08	3075253	77435241	63778190	30	4937											
CEP78	84131	broad.mit.edu	37	chr9	80881577	80881577	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaaaagaagaggagttgTccagaaatagcagatcttct	18	8	10	5	0	2	5	0	0	2	5	3	6	3	6	1	1	1	2	1	1	6	3			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr9:80881577T>C	uc004aky.4	+	15	2344	c.2068T>C	c.(2068-2070)Tcc>Ccc	p.S690P	CEP78_uc004akx.2_Missense_Mutation_p.S673P|CEP78_uc010mpp.3_Missense_Mutation_p.S674P|CEP78_uc004akz.1_Missense_Mutation_p.S161P	NM_001098802	NP_001092272	Q5JTW2	CEP78_HUMAN	Homo sapiens centrosomal protein 78kDa (CEP78), transcript variant 1, mRNA.	673					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						AGAGGAGTTGTCCAGAAATAG	0.433													2	12					0	0	1	0	0	C	80881577	T	C	80881577	3	2	110	1	0	0	0	0	1	0	0	0	3262	1667	58	3	2130	3	CEP78	9	80881577	Missense_Mutation	SNP	T	TCGA-DU-8167-01A-11D-2253-08	3446336	80881577	60331854	31	4938											
AMBP	259	broad.mit.edu	37	chr9	116840418	116840418	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttggatgttgtcgggcggCgttggcacagggccagcgct	5	9	17	10	4	0	0	0	0	0	0	1	1	0	1	1	5	1	4	1	5	0	3			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr9:116840418C>T	uc004bie.4	-	0	335	c.72G>A	c.(70-72)acG>acA	p.T24T	AMBP_uc011lxk.2_5'Flank|AMBP_uc010mvc.1_Non-coding_Transcript	NM_001633	NP_001624	P02760	AMBP_HUMAN	Homo sapiens alpha-1-microglobulin/bikunin precursor (AMBP), mRNA.	24					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of JNK cascade|negative regulation of immune response|protein-chromophore linkage	extracellular region|plasma membrane	IgA binding|calcium channel inhibitor activity|calcium oxalate binding|heme binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TGTCGGGCGGCGTTGGCACAG	0.617													5	91					0	0	1	0	0	T	116840418	C	T	116840418	2	4	110	1	0	0	0	0	0	0	0	1	564	755	27	1		1	AMBP	9	116840418	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08	35958841	116840418	24373013	32	4939											
RXRA	6256	broad.mit.edu	37	chr9	137300950	137300950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accagaagtgcctggccatgGgcatgaagcgggaaggtagg	11	5	17	8	1	0	2	0	1	0	1	0	3	0	3	3	5	2	2	3	5	4	1			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr9:137300950G>A	uc004cfb.2	+	3	757	c.595G>A	c.(595-597)Ggc>Agc	p.G199S	RXRA_uc004cfc.1_Missense_Mutation_p.G102S	NM_002957	NP_002948	P19793	RXRA_HUMAN	Homo sapiens retinoid X receptor, alpha (RXRA), mRNA.	199					cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	CCTGGCCATGGGCATGAAGCG	0.657													5	64					0	0	1	0	0	A	137300950	G	A	137300950	3	1	110	1	0	0	0	0	1	0	0	0	13763	1232	43	3	609	3	RXRA	9	137300950	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	20460532	137300950	3912481	33	4940											
PTER	9317	broad.mit.edu	37	chr10	16528411	16528411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggaaccagtatcaagtgtGgcattattggagaaattggt	13	12	12	4	0	1	1	1	0	0	1	1	3	1	2	1	4	1	2	1	4	5	4			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr10:16528411G>A	uc001iog.1	+	3	700	c.493G>A	c.(493-495)Ggc>Agc	p.G165S	PTER_uc001ioh.1_Missense_Mutation_p.G165S|PTER_uc001ioi.1_Missense_Mutation_p.G165S|PTER_uc009xjp.1_Missense_Mutation_p.G165S	NM_030664	NP_109589	Q96BW5	PTER_HUMAN	Homo sapiens phosphotriesterase related (PTER), transcript variant 2, mRNA.	165					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						TATCAAGTGTGGCATTATTGG	0.448													19	108					0	0	1	0	0	A	16528411	G	A	16528411	3	1	110	1	0	0	0	0	1	0	0	0	12739	1348	47	3	499	3	PTER	10	16528411	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08		16528411	119006336	34	4941											
SVIL	6840	broad.mit.edu	37	chr10	29811448	29811448	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tggattcttgcagagcttctCctgtggctgttccgaagaat	7	14	11	9	1	2	2	0	0	2	2	4	4	3	3	2	2	2	4	2	2	2	4			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr10:29811448C>G	uc001iut.1	-	15	4033	c.3280G>C	c.(3280-3282)Gag>Cag	p.E1094Q	SVIL_uc010qdw.1_5'UTR|SVIL_uc001iuu.1_Missense_Mutation_p.E668Q	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1094					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CAGAGCTTCTCCTGTGGCTGT	0.557													9	72					0	0	1	0	0	G	29811448	C	G	29811448	3	3	110	1	0	0	0	0	1	0	0	0	15418	864	30	5	3456	5	SVIL	10	29811448	Missense_Mutation	SNP	C	TCGA-DU-8167-01A-11D-2253-08	13283037	29811448	105723299	35	4942											
DUPD1	338599	broad.mit.edu	37	chr10	76803652	76803652	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcgtcggcctccacgccgtgGtactggatgtccatgtcgcg	4	10	13	14	6	0	0	0	0	0	0	5	1	2	1	4	3	1	1	4	3	1	1			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr10:76803652G>A	uc001jwq.1	-	1	324	c.324C>T	c.(322-324)taC>taT	p.Y108Y		NM_001003892	NP_001003892	Q68J44	DUPD1_HUMAN	Homo sapiens dual specificity phosphatase and pro isomerase domain containing 1 (DUPD1), mRNA.	108	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CCACGCCGTGGTACTGGATGT	0.647													17	106					0	0	1	0	0	A	76803652	G	A	76803652	2	1	110	1	0	0	0	0	0	0	0	1	4804	1256	44	3		3	DUPD1	10	76803652	Silent	SNP	G	TCGA-DU-8167-01A-11D-2253-08	46992204	76803652	58731095	36	4943											
TTC12	54970	broad.mit.edu	37	chr11	113233185	113233185	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaattgttgaggaggccttGcgagcaggagtggtaaagaa	14	8	15	4	1	0	2	0	1	0	1	0	5	0	4	1	4	2	3	1	4	5	4			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr11:113233185G>A	uc001pnv.3	+	18	1800	c.1695G>A	c.(1693-1695)ttG>ttA	p.L565L	TTC12_uc001pnu.3_Silent_p.L559L|TTC12_uc001pnw.3_Non-coding_Transcript|TTC12_uc001pnx.3_Silent_p.L409L	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	Homo sapiens tetratricopeptide repeat domain 12 (TTC12), mRNA.	559							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		AGGAGGCCTTGCGAGCAGGAG	0.423													14	87					0	0	1	0	0	A	113233185	G	A	113233185	2	1	110	1	0	0	0	0	0	0	0	1	16676	1310	46	3		3	TTC12	11	113233185	Silent	SNP	G	TCGA-DU-8167-01A-11D-2253-08		113233185	21773331	37	4944											
ACACB	32	broad.mit.edu	37	chr12	109644646	109644646	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttttgtctgccagagccCgtttttagcataaaggtaaa	10	13	10	8	1	1	1	0	0	1	1	1	1	1	1	2	2	3	4	2	2	5	7			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr12:109644646C>T	uc001tob.3	+	19	3164	c.3045C>T	c.(3043-3045)ccC>ccT	p.P1015P	ACACB_uc001toc.3_Silent_p.P1015P	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1015					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TGCCAGAGCCCGTTTTTAGCA	0.527													11	51					0	0	1	0	0	T	109644646	C	T	109644646	2	4	110	1	0	0	0	0	0	0	0	1	107	639	23	2		2	ACACB	12	109644646	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08		109644646	24207249	38	4945											
SBNO1	55206	broad.mit.edu	37	chr12	123834923	123834923	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaccatcaatatcaaagagGtcattcggactaattccact	14	10	5	12	1	3	1	3	0	0	1	5	2	4	2	3	2	0	0	3	2	4	4			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr12:123834923G>A	uc010tap.2	-	0	66	c.66C>T	c.(64-66)gaC>gaT	p.D22D	SBNO1_uc010tao.2_Silent_p.D22D|SBNO1_uc010taq.2_5'UTR|SBNO1_uc001ueu.2_Silent_p.D22D|SBNO1_uc001uet.2_Silent_p.D22D|SBNO1_uc001uev.2_Silent_p.D22D|SBNO1_uc009zxy.1_Silent_p.D22D	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	22							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TATCAAAGAGGTCATTCGGAC	0.418													11	378					0	0	1	0	0	A	123834923	G	A	123834923	2	1	110	1	0	0	0	0	0	0	0	1	13862	1252	44	3		3	SBNO1	12	123834923	Silent	SNP	G	TCGA-DU-8167-01A-11D-2253-08	14190277	123834923	10016972	39	4946											
P2RX2	22953	broad.mit.edu	37	chr12	133196268	133196268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctctttctgagcccaggggGgcagcgtgttcagcatcatc	6	10	12	13	1	4	1	2	1	2	0	5	1	4	1	2	3	3	3	2	3	0	2			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr12:133196268G>A	uc001ukk.1	+	2	313	c.313G>A	c.(313-315)Ggc>Agc	p.G105S	P2RX2_uc001uki.1_Missense_Mutation_p.G105S|P2RX2_uc001ukj.1_Missense_Mutation_p.G105S|P2RX2_uc001ukl.1_Intron|P2RX2_uc001ukm.1_Intron|P2RX2_uc001ukn.1_Intron|P2RX2_uc009zyt.1_Missense_Mutation_p.G105S|P2RX2_uc001uko.1_Intron	NM_170683	NP_733783	Q9UBL9	P2RX2_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 2 (P2RX2), transcript variant 4, mRNA.	105					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		AGCCCAGGGGGGCAGCGTGTT	0.756													6	23					0	0	1	0	0	A	133196268	G	A	133196268	3	1	110	1	0	0	0	0	1	0	0	0	11340	1232	43	3	323	3	P2RX2	12	133196268	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	9361345	133196268	655627	40	4947											
N4BP2L2	10443	broad.mit.edu	37	chr13	33017399	33017399	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggttctgatgctgccacCgaagtgaagatcatttgaat	10	12	10	9	1	2	4	1	3	1	1	2	5	2	4	3	1	2	2	3	1	3	2			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr13:33017399C>T	uc010abe.1	-	6	1297	c.1275G>A	c.(1273-1275)tcG>tcA	p.S425S	N4BP2L2_uc001uug.2_Silent_p.S308S|N4BP2L2_uc010abd.1_Silent_p.S338S|N4BP2L2_uc001uuh.2_Silent_p.S256S|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Silent_p.S410S	NM_033111	NP_149102	Q92802	N42L2_HUMAN	Homo sapiens NEDD4 binding protein 2-like 2 (N4BP2L2), transcript variant 1, mRNA.	0										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		ATGCTGCCACCGAAGTGAAGA	0.408													24	86					0	0	1	0	0	T	33017399	C	T	33017399	2	4	110	1	0	0	0	0	0	0	0	1	10112	639	23	2		2	N4BP2L2	13	33017399	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08		33017399	82152479	41	4948											
TPP2	7174	broad.mit.edu	37	chr13	103287941	103287941	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtttcttaattttaggtctGaaagctaataacattgacta	13	17	6	5	0	2	2	0	2	2	0	2	2	2	2	0	1	2	2	0	1	6	8			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr13:103287941G>A	uc001vpi.4	+	11	1501	c.1398G>A	c.(1396-1398)ctG>ctA	p.L466L		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	466					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTTTAGGTCTGAAAGCTAATA	0.408													4	54					0	0	1	0	0	A	103287941	G	A	103287941	2	1	110	1	0	0	0	0	0	0	0	1	16409	1277	45	3		3	TPP2	13	103287941	Silent	SNP	G	TCGA-DU-8167-01A-11D-2253-08	70270542	103287941	11881937	42	4949											
TPP2	7174	broad.mit.edu	37	chr13	103287990	103287990	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attcagtcagaagagctctaGaaaacactgcagtgaaggct	15	8	10	8	0	3	4	2	1	1	3	3	4	3	4	0	1	3	3	0	1	5	2			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr13:103287990G>C	uc001vpi.4	+	11	1550	c.1447G>C	c.(1447-1449)Gaa>Caa	p.E483Q		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	483					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAGAGCTCTAGAAAACACTGC	0.353													9	88					0	0	1	0	0	C	103287990	G	C	103287990	3	2	110	1	0	0	0	0	1	0	0	0	16409	943	33	5	1493	5	TPP2	13	103287990	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	49	103287990	11881888	43	4950											
DAD1	1603	broad.mit.edu	37	chr14	23058038	23058038	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actcttctaagaaccgcgaaAtgacagacactaccgacgcc	14	6	7	14	4	2	3	0	1	2	2	2	5	2	3	3	0	2	0	3	0	4	3			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr14:23058038A>C	uc001wgl.2	-	0	106	c.26T>G	c.(25-27)aTt>aGt	p.I9S		NM_001344	NP_001335	P61803	DAD1_HUMAN	Homo sapiens defender against cell death 1 (DAD1), mRNA.	9					anti-apoptosis|apoptosis|post-translational protein modification	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			large_intestine(2)|ovary(2)|prostate(1)	5	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0156)		GAACCGCGAAATGACAGACAC	0.572													30	65					0	0	1	0	0	C	23058038	A	C	23058038	3	2	110	1	0	0	0	0	1	0	0	0	4224	101	4	5	323	5	DAD1	14	23058038	Missense_Mutation	SNP	A	TCGA-DU-8167-01A-11D-2253-08		23058038	84291502	44	4951											
PRKCH	5583	broad.mit.edu	37	chr14	62014584	62014584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaaccatcgccaaatagaaCcgcctttcagacccagaatc	14	7	6	14	2	1	4	1	1	0	3	3	4	1	4	5	0	2	0	5	0	5	2			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr14:62014584C>T	uc001xfn.3	+	12	2190	c.1885C>T	c.(1885-1887)Ccg>Tcg	p.P629S	PRKCH_uc010tsa.2_Missense_Mutation_p.P468S|PRKCH_uc010tsb.2_Missense_Mutation_p.P197S|PRKCH_uc001xfo.3_Non-coding_Transcript	NM_006255	NP_006246	P24723	KPCL_HUMAN	Homo sapiens protein kinase C, eta (PRKCH), mRNA.	629	AGC-kinase C-terminal.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CCAAATAGAACCGCCTTTCAG	0.522													50	130					0	0	1	0	0	T	62014584	C	T	62014584	3	4	110	1	0	0	0	0	1	0	0	0	12513	507	18	3	1935	3	PRKCH	14	62014584	Missense_Mutation	SNP	C	TCGA-DU-8167-01A-11D-2253-08	38956546	62014584	45334956	45	4952											
PCNX	22990	broad.mit.edu	37	chr14	71445338	71445338	+	Frame_Shift_Del	DEL	G	G	-																															accaggttgcatttcctgaaGgggaagagcaagatgcagtc																										TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr14:71445338delG	uc001xmo.2	+	5	2730	c.2284delG	c.(2284-2286)gggfs	p.G762fs	PCNX_uc001xmn.4_Frame_Shift_Del_p.G762fs|PCNX_uc010are.1_Frame_Shift_Del_p.G762fs	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	762						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ATTTCCTGAAGGGGAAGAGCA	0.418													22	182	---	---	---	---						-	71445338	G	-	71445338	7	5	110	1	0	1	0	1	0	0	0	0	11591	1000	35	0	2306	0	PCNX	14	71445338	Frame_Shift_Del	DEL	G	TCGA-DU-8167-01A-11D-2253-08	9430754	71445338	35904202	46	4953											
ASB2	51676	broad.mit.edu	37	chr14	94404157	94404157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatcgatgatgggccccGcccagcggctcacctctggg	6	6	14	15	3	2	1	1	1	1	0	3	3	2	2	4	4	1	1	4	4	0	0			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr14:94404157G>A	uc001ycd.3	-	8	2028	c.1658C>T	c.(1657-1659)gCg>gTg	p.A553V	ASB2_uc001ycb.2_Missense_Mutation_p.A199V|ASB2_uc001ycc.2_Missense_Mutation_p.A505V|ASB2_uc001yce.1_Missense_Mutation_p.A451V	NM_001202429	NP_001189358	Q96Q27	ASB2_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 2 (ASB2), transcript variant 1, mRNA.	505	SOCS box.				intracellular signal transduction			p.R553Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GATGGGCCCCGCCCAGCGGCT	0.597													6	23					0	0	1	0	0	A	94404157	G	A	94404157	3	1	110	1	0	0	0	0	1	0	0	0	1023	1087	38	1	257	1	ASB2	14	94404157	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	22958819	94404157	12945383	47	4954											
FBN1	2200	broad.mit.edu	37	chr15	48760623	48760623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttaccaacacagccaactCgagttgggttcagttcaaaa	13	10	7	11	1	3	0	2	0	1	0	4	1	3	0	2	1	4	3	2	1	5	4			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr15:48760623C>T	uc001zwx.2	-	36	4963	c.4568G>A	c.(4567-4569)cGa>cAa	p.R1523Q	FBN1_uc010beo.2_5'Flank	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1523	EGF-like 26; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACAGCCAACTCGAGTTGGGTT	0.438													4	87					0	0	1	0	0	T	48760623	C	T	48760623	3	4	110	1	0	0	0	0	1	0	0	0	5702	884	31	2	4167	2	FBN1	15	48760623	Missense_Mutation	SNP	C	TCGA-DU-8167-01A-11D-2253-08		48760623	53770769	48	4955											
NOX5	79400	broad.mit.edu	37	chr15	69348973	69348973	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtggctccccagctctGgccaaggtgctgaagggcca	6	9	13	13	0	2	1	0	1	2	0	3	1	3	1	4	4	2	3	4	4	2	1			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr15:69348973G>A	uc002ars.2	+	15	2276	c.2235G>A	c.(2233-2235)ctG>ctA	p.L745L	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Silent_p.L699L|NOX5_uc002arp.2_Silent_p.L727L|NOX5_uc010bid.2_Silent_p.L710L|NOX5_uc010bie.2_Silent_p.L545L|NOX5_uc002arr.2_Silent_p.L717L|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	745					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CCCCAGCTCTGGCCAAGGTGC	0.537													5	69					0	0	1	0	0	A	69348973	G	A	69348973	2	1	110	1	0	0	0	0	0	0	0	1	10559	1335	47	3		3	NOX5	15	69348973	Silent	SNP	G	TCGA-DU-8167-01A-11D-2253-08	20588350	69348973	33182419	49	4956											
CMTM1	113540	broad.mit.edu	37	chr16	66612848	66612848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagttgaaaggaagctttccCccgccaaggacgcctacccc	11	6	9	15	2	0	1	0	1	0	0	1	3	1	3	6	2	2	2	6	2	5	3			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr16:66612848C>T	uc002epr.4	+	3	872	c.805C>T	c.(805-807)Ccc>Tcc	p.P269S	CMTM1_uc021tjs.1_3'UTR|CMTM1_uc021tjt.1_Missense_Mutation_p.P151S|CMTM1_uc021tju.1_Missense_Mutation_p.P98S|CMTM1_uc002eph.4_3'UTR|CMTM1_uc002epi.4_Missense_Mutation_p.P152S|CMTM1_uc002epl.4_Missense_Mutation_p.P105S|CMTM1_uc002epj.4_3'UTR|CMTM1_uc002epk.4_Missense_Mutation_p.P99S|CMTM1_uc002epa.4_3'UTR|CMTM1_uc002epb.4_Non-coding_Transcript|CMTM1_uc002epc.4_Non-coding_Transcript|CMTM1_uc002epd.4_Non-coding_Transcript|CMTM1_uc002epe.4_Non-coding_Transcript|CMTM1_uc002epf.4_Non-coding_Transcript|CMTM1_uc002epg.4_Non-coding_Transcript|CMTM1_uc002epm.4_Non-coding_Transcript|CMTM1_uc002epo.4_Non-coding_Transcript|CMTM1_uc002epp.4_Non-coding_Transcript|CMTM1_uc002epq.4_Non-coding_Transcript|CMTM1_uc010cds.3_Non-coding_Transcript|CMTM1_uc002epn.4_3'UTR|CMTM1_uc002eps.3_Non-coding_Transcript|CMTM2_uc002ept.3_5'Flank|CMTM2_uc010cdu.3_5'Flank	NM_052999	NP_443725	Q8IZ96	CKLF1_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 1 (CMTM1), transcript variant 17, mRNA.	152					chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		GAAGCTTTCCCCCGCCAAGGA	0.602													15	59					0	0	1	0	0	T	66612848	C	T	66612848	3	4	110	1	0	0	0	0	1	0	0	0	3582	623	22	3	819	3	CMTM1	16	66612848	Missense_Mutation	SNP	C	TCGA-DU-8167-01A-11D-2253-08		66612848	23741905	50	4957											
TP53	7157	broad.mit.edu	37	chr17	7578413	7578413	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgggggcagcgcctcaCaacctccgtcatgtgctgtg	6	9	14	12	2	2	0	2	0	0	0	3	0	3	0	3	3	3	2	3	3	1	0			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr17:7578413C>G	uc002gim.2	-	4	711	c.517G>C	c.(517-519)Gtg>Ctg	p.V173L	TP53_uc002gig.1_Missense_Mutation_p.V173L|TP53_uc002gih.3_Missense_Mutation_p.V173L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.V41L|TP53_uc010cnf.1_Missense_Mutation_p.V41L|TP53_uc002gii.1_Missense_Mutation_p.V41L|TP53_uc010cni.1_Missense_Mutation_p.V173L|TP53_uc010cnh.1_Missense_Mutation_p.V173L|TP53_uc002gij.2_Missense_Mutation_p.V173L|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.V80L|TP53_uc002gio.2_Missense_Mutation_p.V41L|TP53_uc010vug.2_Missense_Mutation_p.V134L	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	173	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V173L(125)|p.V173M(88)|p.V172F(13)|p.V173A(12)|p.V173V(8)|p.V173fs*1(8)|p.V172D(8)|p.0?(8)|p.V172I(7)|p.V173G(6)|p.V80L(6)|p.V41L(6)|p.V172A(4)|p.V173fs*59(4)|p.V172fs*2(4)|p.V172V(4)|p.V172G(4)|p.V80M(3)|p.V41M(3)|p.V157_C176del20(2)|p.V172_R174delVVR(2)|p.V173fs*69(2)|p.P151_V173del23(2)|p.V173fs*23(2)|p.V172_E180delVVRRCPHHE(2)|p.V173W(2)|p.V173fs*8(2)|p.E171_H179delEVVRRCPHH(2)|p.K164_P219del(1)|p.E171fs*61(1)|p.V173E(1)|p.E171fs*1(1)|p.V173fs*7(1)|p.V172fs*9(1)|p.H168fs*69(1)|p.S149fs*72(1)|p.E171_V172delEV(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)		CAGCGCCTCACAACCTCCGTC	0.662		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)			42	44					0	0	1	0	0	G	7578413	C	G	7578413	3	3	110	1	0	0	0	0	1	0	0	0	16378	478	17	5	781	5	TP53	17	7578413	Missense_Mutation	SNP	C	TCGA-DU-8167-01A-11D-2253-08		7578413	73616797	51	4958											
ALOX12B	242	broad.mit.edu	37	chr17	7976156	7976156	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggggatgggaaggcacttgTtgcgctggcggatgtcgtgt	6	10	19	6	3	0	0	0	0	0	0	1	3	0	3	0	6	1	3	0	6	1	2			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr17:7976156T>C	uc002gjy.1	-	14	2300	c.2039A>G	c.(2038-2040)aAc>aGc	p.N680S		NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	680	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						AAGGCACTTGTTGCGCTGGCG	0.587										Multiple Myeloma(8;0.094)			6	98					0	0	1	0	0	C	7976156	T	C	7976156	3	2	110	1	0	0	0	0	1	0	0	0	537	1725	60	3	70	3	ALOX12B	17	7976156	Missense_Mutation	SNP	T	TCGA-DU-8167-01A-11D-2253-08	397743	7976156	73219054	52	4959			1	9		2	2	24	N	T_G	5.274964e-05
ALOX12B	242	broad.mit.edu	37	chr17	7976179	7976179	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgctggcggatgtcgtgtgaGatctggttcaggcgctggcg	4	10	18	9	5	2	1	1	1	1	1	3	3	2	2	0	5	0	3	0	5	0	1			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr17:7976179G>A	uc002gjy.1	-	14	2277	c.2016C>T	c.(2014-2016)atC>atT	p.I672I		NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	672	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						TGTCGTGTGAGATCTGGTTCA	0.607										Multiple Myeloma(8;0.094)			5	75					0	0	1	0	0	A	7976179	G	A	7976179	2	1	110	1	0	0	0	0	0	0	0	1	537	932	33	3		3	ALOX12B	17	7976179	Silent	SNP	G	TCGA-DU-8167-01A-11D-2253-08	23	7976179	73219031	53	4960			1	9		2	2	24	N	T_G	5.274964e-05
HSD17B1	3292	broad.mit.edu	37	chr17	40705302	40705302	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgactgagggccgcgtggaCgtgctgggtgagcctcctgg	4	8	19	10	3	0	3	0	3	0	0	1	4	1	4	3	4	2	1	3	4	0	0			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr17:40705302C>T	uc002hzw.3	+	1	1226	c.258C>T	c.(256-258)gaC>gaT	p.D86D	HSD17B1_uc010wgm.2_Non-coding_Transcript|BC043620_uc002hzy.3_Silent_p.T93T|HSD17B1_uc010cyi.3_Silent_p.D117D	NM_000413	NP_000404	P14061	DHB1_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 1 (HSD17B1), mRNA.	86					estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	NADH(DB00157)	GCCGCGTGGACGTGCTGGGTG	0.642													4	40					0	0	1	0	0	T	40705302	C	T	40705302	2	4	110	1	0	0	0	0	0	0	0	1	7378	535	19	1		1	HSD17B1	17	40705302	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08	32729123	40705302	40489908	54	4961											
ANKRD40	91369	broad.mit.edu	37	chr17	48773483	48773483	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccagctcctggaaatcttGgagtcgagcaacatccttgt	9	12	9	11	1	1	0	0	0	1	0	5	3	4	2	3	2	3	2	3	2	2	3			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr17:48773483G>C	uc002iso.3	-	4	1237	c.982C>G	c.(982-984)Caa>Gaa	p.Q328E	Y_RNA_uc021uaa.1_5'Flank	NM_052855	NP_443087	Q6AI12	ANR40_HUMAN	Homo sapiens ankyrin repeat domain 40 (ANKRD40), mRNA.	328										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			TGGAAATCTTGGAGTCGAGCA	0.393													17	68					0	0	1	0	0	C	48773483	G	C	48773483	3	2	110	1	0	0	0	0	1	0	0	0	669	1357	47	5	128	5	ANKRD40	17	48773483	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	8068181	48773483	32421727	55	4962											
ARMC6	93436	broad.mit.edu	37	chr19	19162910	19162910	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtcatgaccttcgatgaCgacatccgtgtgccctttgg	6	12	11	12	4	1	2	1	2	0	0	3	4	2	2	3	1	1	0	3	1	0	2			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr19:19162910C>T	uc002nld.3	+	4	1191	c.759C>T	c.(757-759)gaC>gaT	p.D253D	ARMC6_uc002nlc.3_Silent_p.D228D|ARMC6_uc010xql.2_Silent_p.D160D|ARMC6_uc010xqm.2_Silent_p.D253D	NM_001199196	NP_001186125	Q6NXE6	ARMC6_HUMAN	Homo sapiens armadillo repeat containing 6 (ARMC6), transcript variant 1, mRNA.	253							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CCTTCGATGACGACATCCGTG	0.572													12	36					0	0	1	0	0	T	19162910	C	T	19162910	2	4	110	1	0	0	0	0	0	0	0	1	955	535	19	1		1	ARMC6	19	19162910	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08		19162910	39966073	56	4963											
CEACAM5	1048	broad.mit.edu	37	chr19	42213763	42213763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaagagtggatggcaacCgtcaaattataggatatgta	15	10	12	4	1	1	2	1	1	0	1	1	4	1	4	1	3	1	2	1	3	7	4			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr19:42213763C>T	uc002orl.3	+	1	350	c.229C>T	c.(229-231)Cgt>Tgt	p.R77C	CEACAM5_uc010ehz.1_Missense_Mutation_p.R77C|CEACAM5_uc002orj.1_Missense_Mutation_p.R77C	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	77	Ig-like 1.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GGATGGCAACCGTCAAATTAT	0.488													49	128					0	0	1	0	0	T	42213763	C	T	42213763	3	4	110	1	0	0	0	0	1	0	0	0	3195	652	23	2	235	2	CEACAM5	19	42213763	Missense_Mutation	SNP	C	TCGA-DU-8167-01A-11D-2253-08	23050853	42213763	16915220	57	4964											
BANF2	140836	broad.mit.edu	37	chr20	17716423	17716423	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcccagcagacttctcaCtgcctcaaggagtggtgtgc	8	8	13	12	0	2	1	2	0	1	1	3	3	2	2	2	3	3	1	2	3	1	1			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr20:17716423C>T	uc010zrs.1	+	2	275	c.261C>T	c.(259-261)caC>caT	p.H87H	BANF2_uc002wqa.2_Silent_p.H80H|BANF2_uc002wpz.2_Silent_p.H80H	NM_001159495	NP_848572	Q9H503	BAFL_HUMAN	Homo sapiens barrier to autointegration factor 2 (BANF2), transcript variant 3, mRNA.	80						cytoplasm|nucleus	DNA binding	p.C86R(1)		large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						AGACTTCTCACTGCCTCAAGG	0.542													16	89					0	0	1	0	0	T	17716423	C	T	17716423	2	4	110	1	0	0	0	0	0	0	0	1	1308	564	20	3		3	BANF2	20	17716423	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08		17716423	45309097	58	4965											
ARFGEF2	10564	broad.mit.edu	37	chr20	47592595	47592595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaaataggggatgggaaagGccttgacatggcaagacggt	13	6	17	5	1	0	2	0	1	0	1	0	5	0	5	1	7	0	1	1	7	4	2			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr20:47592595G>A	uc002xtx.4	+	13	1969	c.1817G>A	c.(1816-1818)gGc>gAc	p.G606D		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	606					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	Golgi membrane|cytosol	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GATGGGAAAGGCCTTGACATG	0.532													6	39					0	0	1	0	0	A	47592595	G	A	47592595	3	1	110	1	0	0	0	0	1	0	0	0	853	1203	42	3	1871	3	ARFGEF2	20	47592595	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	29876172	47592595	15432925	59	4966											
FAM65C	140876	broad.mit.edu	37	chr20	49225174	49225174	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtccaggttctcatgcagCgtggggatgaaggccttctc	7	11	13	10	1	2	1	1	1	2	0	5	2	3	2	2	4	2	2	2	4	1	2	rs144349290		TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr20:49225174C>T	uc010zyt.2	-	9	1037	c.786G>A	c.(784-786)acG>acA	p.T262T	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Silent_p.T258T|FAM65C_uc002xvn.1_Silent_p.T258T	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	258										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCTCATGCAGCGTGGGGATGA	0.657													10	156					0	0	1	0	0	T	49225174	C	T	49225174	2	4	110	1	0	0	0	0	0	0	0	1	5601	755	27	1		1	FAM65C	20	49225174	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08	1632579	49225174	13800346	60	4967											
EIF3D	8664	broad.mit.edu	37	chr22	36907606	36907606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catcttcatcagagctgaagGtgccatcagggaggctgtag	10	9	13	9	0	4	2	3	1	1	1	4	3	4	3	1	3	2	3	1	3	2	2			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr22:36907606G>A	uc003apr.3	-	13	1742	c.1577C>T	c.(1576-1578)aCc>aTc	p.T526I	EIF3D_uc011amr.2_Missense_Mutation_p.T353I|EIF3D_uc011amt.2_Missense_Mutation_p.T477I|EIF3D_uc011ams.2_Missense_Mutation_p.T429I	NM_003753	NP_003744	O15371	EIF3D_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit D (EIF3D), mRNA.	526						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						AGAGCTGAAGGTGCCATCAGG	0.527											OREG0026522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	19					0	0	1	0	0	A	36907606	G	A	36907606	3	1	110	1	0	0	0	0	1	0	0	0	5014	1261	44	3	77	3	EIF3D	22	36907606	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08		36907606	14396960	61	4968											
FAM47B	170062	broad.mit.edu	37	chrX	34962576	34962576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattcttatagtgcacagcGtgggaggataaggtatggac	11	10	14	6	1	1	0	0	0	1	0	1	3	1	3	0	4	2	3	0	4	4	5			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chrX:34962576G>A	uc004ddi.2	+	0	1664	c.1628G>A	c.(1627-1629)cGt>cAt	p.R543H		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	543										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						AGTGCACAGCGTGGGAGGATA	0.498													6	70					0	0	1	0	0	A	34962576	G	A	34962576	3	1	110	1	0	0	0	0	1	0	0	0	5570	1145	40	1	1630	1	FAM47B	23	34962576	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08		34962576	120307984	62	4969											
TBC1D25	4943	broad.mit.edu	37	chrX	48418056	48418056	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggactgacaggccgagagCggatggactacatgaaacgc	13	5	14	9	3	0	3	0	2	0	1	0	7	0	6	1	4	3	0	1	4	2	1			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chrX:48418056C>T	uc011mmb.1	+	5	858	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W	TBC1D25_uc004dka.1_Missense_Mutation_p.R254W|TBC1D25_uc011mly.1_Missense_Mutation_p.R196W|TBC1D25_uc004dkb.1_5'UTR|TBC1D25_uc011mlz.1_5'UTR|TBC1D25_uc011mma.1_5'UTR|TBC1D25_uc004dkc.1_5'UTR|TBC1D25_uc011mmd.1_5'UTR|TBC1D25_uc011mmc.1_5'UTR	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	Homo sapiens TBC1 domain family, member 25 (TBC1D25), mRNA.	254	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						AGGCCGAGAGCGGATGGACTA	0.587													24	35					0	0	1	0	0	T	48418056	C	T	48418056	3	4	110	1	0	0	0	0	1	0	0	0	15612	759	27	1	782	1	TBC1D25	23	48418056	Missense_Mutation	SNP	C	TCGA-DU-8167-01A-11D-2253-08	13455480	48418056	106852504	63	4970											
WAS	7454	broad.mit.edu	37	chrX	48545245	48545245	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgacatcacgagttcacgatAccgtgggctcccagcacctg	9	8	10	14	3	2	1	2	1	0	0	3	3	3	1	3	1	2	3	3	1	1	2			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chrX:48545245A>T	uc004dkm.4	+	6	692	c.635A>T	c.(634-636)tAc>tTc	p.Y212F		NM_000377	NP_000368	P42768	WASP_HUMAN	Homo sapiens Wiskott-Aldrich syndrome (eczema-thrombocytopenia) (WAS), mRNA.	212					T cell receptor signaling pathway|blood coagulation|defense response|epidermis development|immune response	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				AGTTCACGATACCGTGGGCTC	0.572			"Mis, N, F, S"			lymphoma							5	44					0	0	1	0	0	T	48545245	A	T	48545245	3	4	110	1	0	0	0	0	1	0	0	0	17248	391	14	5	661	5	WAS	23	48545245	Missense_Mutation	SNP	A	TCGA-DU-8167-01A-11D-2253-08	127189	48545245	106725315	64	4971											
SHROOM4	57477	broad.mit.edu	37	chrX	50377586	50377586	+	Frame_Shift_Del	DEL	G	G	-																															gtccatcagcctctccatgtGggggactgctttggctctgg																										TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chrX:50377586delG	uc004dpe.2	-	3	1513	c.1487delC	c.(1486-1488)ccafs	p.P496fs	SHROOM4_uc004dpd.3_Non-coding_Transcript|SHROOM4_uc004dpf.1_Frame_Shift_Del_p.P380fs	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	496					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CTCTCCATGTGGGGGACTGCT	0.527													18	100	---	---	---	---						-	50377586	G	-	50377586	7	5	110	1	0	1	0	1	0	0	0	0	14296	1348	47	0	3018	0	SHROOM4	23	50377586	Frame_Shift_Del	DEL	G	TCGA-DU-8167-01A-11D-2253-08	1832341	50377586	104892974	65	4972											
ALAS2	212	broad.mit.edu	37	chrX	55042060	55042060	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcataattccatcacgctcCccaatcccagcgccccggga	9	7	7	18	3	1	0	1	0	0	0	4	1	4	1	6	1	2	2	6	1	2	2			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chrX:55042060C>T	uc004dua.4	-	7	1257	c.1119G>A	c.(1117-1119)ggG>ggA	p.G373G	ALAS2_uc004dub.4_Silent_p.G360G|ALAS2_uc004dud.4_Silent_p.G336G	NM_000032	NP_000023	P22557	HEM0_HUMAN	Homo sapiens aminolevulinate, delta-, synthase 2 (ALAS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	373					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CATCACGCTCCCCAATCCCAG	0.527													22	73					0	0	1	0	0	T	55042060	C	T	55042060	2	4	110	1	0	0	0	0	0	0	0	1	485	610	22	3		3	ALAS2	23	55042060	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08	4664474	55042060	100228500	66	4973											
ATRX	546	broad.mit.edu	37	chrX	76909629	76909629	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgaaccttaatacgtcGccttttctttttctgtttat	6	22	4	9	2	3	1	0	1	3	0	4	1	3	1	2	0	2	1	2	0	4	10			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chrX:76909629G>A	uc004ecp.4	-	13	4508	c.4276C>T	c.(4276-4278)Cga>Tga	p.R1426*	ATRX_uc004ecq.4_Nonsense_Mutation_p.R1388*|ATRX_uc004eco.4_Nonsense_Mutation_p.R1211*|ATRX_uc004ecr.2_Nonsense_Mutation_p.R1358*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1426					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.R1426*(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTAATACGTCGCCTTTTCTTT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						12	97					0	0	1	0	0	A	76909629	G	A	76909629	4	1	110	1	0	0	0	0	0	1	0	0	1208	1095	38	1	3290	1	ATRX	23	76909629	Nonsense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	21867569	76909629	78360931	67	4974											
H2BFWT	158983	broad.mit.edu	37	chrX	103267993	103267993	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggcggaaataggtggcgaaGctgtccccgcggcagttgga	8	6	17	10	5	0	0	0	0	0	0	1	3	1	2	2	6	1	3	2	6	3	2			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chrX:103267993G>T	uc004elr.3	-	0	264	c.240C>A	c.(238-240)agC>agA	p.S80R		NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN	Homo sapiens H2B histone family, member W, testis-specific (H2BFWT), mRNA.	80					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						AGGTGGCGAAGCTGTCCCCGC	0.612													3	40					0.115264	0.116559	1	1	0	T	103267993	G	T	103267993	3	4	110	1	0	0	0	0	1	0	0	0	6932	962	34	5	295	5	H2BFWT	23	103267993	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	26358364	103267993	52002567	68	4975											
TRPC5	7224	broad.mit.edu	37	chrX	111024435	111024435	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgtcagcattgcgttcCtataattgaaaatagacaga	14	11	9	7	1	1	3	1	1	0	2	2	3	2	3	1	1	2	3	1	1	5	6			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chrX:111024435C>T	uc004epl.1	-	9	3020	c.2101_splice	c.e9-1	p.E701_splice	TRPC5_uc004epm.1_Intron	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	701					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CATTGCGTTCCTATAATTGAA	0.403													25	104					0	0	1	0	0	T	111024435	C	T	111024435	5	4	110	1	0	0	0	0	0	0	1	0	16579	695	24	3	833	3	TRPC5	23	111024435	Splice_Site	SNP	C	TCGA-DU-8167-01A-11D-2253-08	7756442	111024435	44246125	69	4976											
ODZ1	10178	broad.mit.edu	37	chrX	123785903	123785903	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcaggttccgaggggagtgCtgtgtatcatcagagccctt	8	11	13	9	1	3	1	3	0	0	1	4	3	4	2	2	3	2	3	2	3	1	3			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chrX:123785903C>T	uc010nqy.3	-	7	1504	c.1440G>A	c.(1438-1440)caG>caA	p.Q480Q	ODZ1_uc011muj.2_Silent_p.Q479Q|ODZ1_uc004euj.3_Silent_p.Q480Q	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	480					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	p.D479G(1)		NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						GAGGGGAGTGCTGTGTATCAT	0.433													4	56					0	0	1	0	0	T	123785903	C	T	123785903	2	4	110	1	0	0	0	0	0	0	0	1	10834	796	28	3		3	ODZ1	23	123785903	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08	12761468	123785903	31484657	70	4977											
BRS3	680	broad.mit.edu	37	chrX	135574306	135574306	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggctttcagcaattcttgCgtaaacccctttgctctcta	7	16	6	12	1	3	0	1	0	2	0	4	0	3	0	2	1	4	4	2	1	4	7			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chrX:135574306C>T	uc004ezv.1	+	2	1121	c.972C>T	c.(970-972)tgC>tgT	p.C324C		NM_001727	NP_001718	P32247	BRS3_HUMAN	Homo sapiens bombesin-like receptor 3 (BRS3), mRNA.	324					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					GCAATTCTTGCGTAAACCCCT	0.468													7	178					0	0	1	0	0	T	135574306	C	T	135574306	2	4	110	1	0	0	0	0	0	0	0	1	1522	776	27	1		1	BRS3	23	135574306	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08	11788403	135574306	19696254	71	4978											
FUBP1	8880	broad.mit.edu	37	chr1	78433338	78433339	+	Frame_Shift_Del	DEL	TG	TG	-																															gctgatgcatcggtggtaacTgtgttccaaaagctatcaaa																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr1:78433338_78433339delTG	uc001dii.3	-	3	351_352	c.262_263delCA	c.(262-264)cagfs	p.Q88fs	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Frame_Shift_Del_p.Q109fs	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	88					transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CGGTGGTAACTGTGTTCCAAAA	0.282			"F, N"		oligodendroglioma								35	5	---	---	---	---						-	78433339	TG	-	78433338	7	5	111	1	0	1	0	1	0	0	0	0	6092	1580	55	0	1739	0	FUBP1	1	78433338	Frame_Shift_Del	DEL	TG	TCGA-DU-8168-01A-11D-2253-08		78433338	170817283	1	4979											
CACNA1E	777	broad.mit.edu	37	chr1	181707520	181707520	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtcctgaggtattttgaCtatgtgttcacgggcgtgtt	6	15	13	7	2	1	2	1	2	0	0	2	2	2	2	1	3	0	3	1	3	2	6			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr1:181707520C>T	uc009wxt.3	+	23	3765	c.3570C>T	c.(3568-3570)gaC>gaT	p.D1190D	CACNA1E_uc001gow.3_Silent_p.D1190D|CACNA1E_uc009wxs.3_Silent_p.D1171D|CACNA1E_uc001gox.1_Silent_p.D416D	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1190					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.D1190N(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGTATTTTGACTATGTGTTCA	0.478													7	199					0	0	1	0	0	T	181707520	C	T	181707520	2	4	111	1	0	0	0	0	0	0	0	1	2542	564	20	3		3	CACNA1E	1	181707520	Silent	SNP	C	TCGA-DU-8168-01A-11D-2253-08	103274182	181707520	67543101	2	4980											
DEGS1	8560	broad.mit.edu	37	chr1	224377867	224377867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttggcctgggtttgcaccCaatttctggacattttatag	8	15	9	9	0	1	0	0	0	1	0	1	1	1	1	2	3	1	2	2	3	3	6			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr1:224377867C>T	uc001hoj.3	+	1	800	c.671C>T	c.(670-672)cCa>cTa	p.P224L		NM_003676	NP_003667	O15121	DEGS1_HUMAN	Homo sapiens delta(4)-desaturase, sphingolipid 1 (DEGS1), mRNA.	224					sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		GGTTTGCACCCAATTTCTGGA	0.373													6	135					0	0	1	0	0	T	224377867	C	T	224377867	3	4	111	1	0	0	0	0	1	0	0	0	4422	594	21	3	677	3	DEGS1	1	224377867	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08	42670347	224377867	24872754	3	4981											
OR2T4	127074	broad.mit.edu	37	chr1	248525565	248525565	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagacacctcactctatgAgattttcatgtacttgtgct	9	15	6	11	0	4	2	3	1	1	2	4	3	4	2	1	0	2	2	1	0	2	5			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr1:248525565A>T	uc001ieh.1	+	0	683	c.683A>T	c.(682-684)gAg>gTg	p.E228V		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E228K(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCACTCTATGAGATTTTCATG	0.478													57	167					0	0	1	0	0	T	248525565	A	T	248525565	3	4	111	1	0	0	0	0	1	0	0	0	11027	304	11	5	685	5	OR2T4	1	248525565	Missense_Mutation	SNP	A	TCGA-DU-8168-01A-11D-2253-08	24147698	248525565	725056	4	4982											
FAM168B	130074	broad.mit.edu	37	chr2	131813195	131813197	+	In_Frame_Del	DEL	GGA	GGA	-																															gcagtctggtaggggttcggGgaggaggagtacggtggcac																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr2:131813195_131813197delGGA	uc002tsd.3	-	3	455_457	c.226_228delTCC	c.(226-228)tccdel	p.S76del		NM_001009993	NP_001009993	A1KXE4	F168B_HUMAN	Homo sapiens family with sequence similarity 168, member B (FAM168B), mRNA.	76										endometrium(3)|lung(2)	5						AGGGGTTCGGGGAGGAGGAGTAC	0.586													7	125	---	---	---	---						-	131813197	GGA	-	131813195	7	5	111	1	0	1	0	1	0	0	0	0	5486	1219	43	0	371	0	FAM168B	2	131813195	In_Frame_Del	DEL	GGA	TCGA-DU-8168-01A-11D-2253-08		131813195	111386178	5	4983											
TANC1	85461	broad.mit.edu	37	chr2	160053205	160053205	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attctccagtacctgctgacTtgtgagtggtcgccgggtcc	5	12	12	12	2	1	2	0	2	1	0	4	2	2	2	4	2	2	2	4	2	1	3			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr2:160053205T>C	uc002uag.3	+	17	3340	c.3066T>C	c.(3064-3066)acT>acC	p.T1022T	TANC1_uc010zcm.2_Silent_p.T1014T|TANC1_uc010fom.1_Silent_p.T828T|TANC1_uc010fon.3_5'Flank	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	1022						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						ACCTGCTGACTTGTGAGTGGT	0.667													55	65					0	0	1	0	0	C	160053205	T	C	160053205	2	2	111	1	0	0	0	0	0	0	0	1	15541	1596	56	4		4	TANC1	2	160053205	Silent	SNP	T	TCGA-DU-8168-01A-11D-2253-08	28240010	160053205	83146168	6	4984											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								42	50					0	0	1	0	0	T	209113112	C	T	209113112	3	4	111	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08	49059907	209113112	34086261	7	4985											
D2HGDH	728294	broad.mit.edu	37	chr2	242707146	242707146	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatggtaacctgcacctcaAtgtgacggcggaggccttca	10	8	12	11	2	2	2	2	1	0	1	2	3	2	3	3	4	2	2	3	4	2	2	rs149519095	by1000genomes	TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr2:242707146A>G	uc002wce.1	+	9	1501	c.1328A>G	c.(1327-1329)aAt>aGt	p.N443S	D2HGDH_uc010fzq.1_Missense_Mutation_p.N309S|D2HGDH_uc002wcg.1_Non-coding_Transcript|D2HGDH_uc002wch.3_Non-coding_Transcript|D2HGDH_uc002wci.2_Missense_Mutation_p.N142S	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN	Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA.	443					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CTGCACCTCAATGTGACGGCG	0.697													35	51					0	0	1	0	0	G	242707146	A	G	242707146	3	3	111	1	0	0	0	0	1	0	0	0	4213	101	4	3	1362	3	D2HGDH	2	242707146	Missense_Mutation	SNP	A	TCGA-DU-8168-01A-11D-2253-08	33594034	242707146	492227	8	4986											
DNAH1	25981	broad.mit.edu	37	chr3	52420205	52420205	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccatcgccgaggagacccgGaattcagtgcagacagagga	12	4	14	11	3	1	3	1	0	0	3	2	7	1	5	3	3	1	1	3	3	1	1			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr3:52420205G>A	uc011bef.2	+	54	8916	c.8655G>A	c.(8653-8655)cgG>cgA	p.R2885R	DNAH1_uc003ddv.3_5'UTR	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2885	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGGAGACCCGGAATTCAGTGC	0.557													6	5					0	0	1	0	0	A	52420205	G	A	52420205	2	1	111	1	0	0	0	0	0	0	0	1	4597	1161	41	3		3	DNAH1	3	52420205	Silent	SNP	G	TCGA-DU-8168-01A-11D-2253-08		52420205	145602225	9	4987											
PBRM1	55193	broad.mit.edu	37	chr3	52661373	52661376	+	Frame_Shift_Del	DEL	TCTT	TCTT	-																															tatcgtctctcctggcaagcTctttcttctttgcctaaaac																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr3:52661373_52661376delTCTT	uc003des.2	-	12	1466_1469	c.1454_1457delAAGA	c.(1453-1458)aaagagfs	p.K485fs	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Frame_Shift_Del_p.K485fs|PBRM1_uc003der.2_Frame_Shift_Del_p.K453fs|PBRM1_uc003det.2_Frame_Shift_Del_p.K485fs|PBRM1_uc003deu.2_Frame_Shift_Del_p.K485fs|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Frame_Shift_Del_p.K485fs|PBRM1_uc010hmk.1_Frame_Shift_Del_p.K485fs|PBRM1_uc003dey.2_Frame_Shift_Del_p.K485fs|PBRM1_uc003dez.1_Frame_Shift_Del_p.K485fs|PBRM1_uc003dfb.1_Frame_Shift_Del_p.K383fs	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	485					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding	p.E486fs*14(1)|p.K485*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CCTGGCAAGCTCTTTCTTCTTTGC	0.422			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								27	22	---	---	---	---						-	52661376	TCTT	-	52661373	7	5	111	1	0	1	0	1	0	0	0	0	11491	1551	54	0	3515	0	PBRM1	3	52661373	Frame_Shift_Del	DEL	TCTT	TCGA-DU-8168-01A-11D-2253-08	241168	52661373	145361057	10	4988											
PLXND1	23129	broad.mit.edu	37	chr3	129290353	129290353	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccccgaatgcctcaccGtgggctcccggccaatgtgg	6	6	13	16	3	1	0	1	0	0	0	2	1	2	0	6	4	1	1	6	4	2	0	rs146029556		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr3:129290353G>A	uc003emx.2	-	17	3436	c.3336_splice	c.e17+1	p.T1112_splice		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1112	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						ATGCCTCACCGTGGGCTCCCG	0.662													23	35					0	0	1	0	0	A	129290353	G	A	129290353	5	1	111	1	0	0	0	0	0	0	1	0	12127	1159	40	1	2522	1	PLXND1	3	129290353	Splice_Site	SNP	G	TCGA-DU-8168-01A-11D-2253-08	76628980	129290353	68732077	11	4989											
BFSP2	8419	broad.mit.edu	37	chr3	133191307	133191307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggaaatccgagcggaggCggagcagcagcaacaggagc	13	1	17	10	3	0	0	0	0	0	0	1	5	1	4	1	5	6	3	1	5	2	0			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr3:133191307C>T	uc003epn.1	+	5	1280	c.1142C>T	c.(1141-1143)gCg>gTg	p.A381V		NM_003571	NP_003562	Q13515	BFSP2_HUMAN	Homo sapiens beaded filament structural protein 2, phakinin (BFSP2), mRNA.	381	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						CGAGCGGAGGCGGAGCAGCAG	0.667													16	25					0	0	1	0	0	T	133191307	C	T	133191307	3	4	111	1	0	0	0	0	1	0	0	0	1416	768	27	1	1164	1	BFSP2	3	133191307	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08	3900954	133191307	64831123	12	4990											
PRR23B	389151	broad.mit.edu	37	chr3	138738764	138738764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgttccgggagcggcgagCgcgcgtggggacctggactc	4	5	20	12	7	0	0	0	0	0	0	2	4	1	3	2	6	2	1	2	6	0	1			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr3:138738764C>T	uc003esy.1	-	0	1005	c.740G>A	c.(739-741)cGc>cAc	p.R247H		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	247	Pro-rich.							p.A246T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGCGGCGAGCGCGCGTGGGG	0.657													6	18					0	0	1	0	0	T	138738764	C	T	138738764	3	4	111	1	0	0	0	0	1	0	0	0	12595	768	27	1	61	1	PRR23B	3	138738764	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08	5547457	138738764	59283666	13	4991											
PIK3CA	5290	broad.mit.edu	37	chr3	178916938	178916940	+	In_Frame_Del	DEL	GAA	GAA	-																															ttgaaccagtaggcaaccgtGaagaaaagatcctcaatcga																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr3:178916938_178916940delGAA	uc003fjk.3	+	1	482_484	c.325_327delGAA	c.(325-327)gaadel	p.E110del		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	110					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E109del(6)|p.E110K(4)|p.G106_R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGGCAACCGTGAAGAAAAGATCC	0.34		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			39	57	---	---	---	---						-	178916940	GAA	-	178916938	7	5	111	1	0	1	0	1	0	0	0	0	11913	1291	45	0	327	0	PIK3CA	3	178916938	In_Frame_Del	DEL	GAA	TCGA-DU-8168-01A-11D-2253-08	40178174	178916938	19105492	14	4992											
WDFY3	23001	broad.mit.edu	37	chr4	85715705	85715708	+	Frame_Shift_Del	DEL	CAAT	CAAT	-																															gagttcctctttggtggaaaCaatcagagatcggtcttttg																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr4:85715705_85715708delCAAT	uc003hpd.3	-	20	3859_3862	c.3451_3454delATTG	c.(3451-3456)attgttfs	p.I1151fs		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1151						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTGGTGGAAACAATCAGAGATCGG	0.358													49	159	---	---	---	---						-	85715708	CAAT	-	85715705	7	5	111	1	0	1	0	1	0	0	0	0	17267	478	17	0	7318	0	WDFY3	4	85715705	Frame_Shift_Del	DEL	CAAT	TCGA-DU-8168-01A-11D-2253-08		85715705	105438571	15	4993											
SAP30	8819	broad.mit.edu	37	chr4	174292617	174292619	+	In_Frame_Del	DEL	AGA	AGA	-																															gatccagaagagcatctcccAgaagaaggtgaagatcgagc																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr4:174292617_174292619delAGA	uc003itd.3	+	0	525_527	c.284_286delAGA	c.(283-288)cagaag>cag	p.K97del		NM_003864	NP_003855	O75446	SAP30_HUMAN	Homo sapiens Sin3A-associated protein, 30kDa (SAP30), mRNA.	97	Interaction with NCOR1 (By similarity).				transcription, DNA-dependent	histone deacetylase complex	DNA binding|metal ion binding|protein binding|transcription corepressor activity			large_intestine(1)|lung(2)|ovary(1)	4		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)		AGCATCTCCCAGAAGAAGGTGAA	0.675													22	50	---	---	---	---						-	174292619	AGA	-	174292617	7	5	111	1	0	1	0	1	0	0	0	0	13833	188	7	0	286	0	SAP30	4	174292617	In_Frame_Del	DEL	AGA	TCGA-DU-8168-01A-11D-2253-08	88576912	174292617	16861659	16	4994											
MLF1IP	79682	broad.mit.edu	37	chr4	185650178	185650178	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgtcaataggcttgcacttTtgaccagctttctaaaagtg	11	13	8	9	1	2	1	1	1	1	0	2	1	2	1	1	1	2	3	1	1	4	6			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr4:185650178T>C	uc003iwq.3	-	2	178	c.108A>G	c.(106-108)caA>caG	p.Q36Q	MLF1IP_uc003iwp.3_Non-coding_Transcript|MLF1IP_uc003iwr.1_Silent_p.Q36Q	NM_024629	NP_078905	Q71F23	CENPU_HUMAN	Homo sapiens MLF1 interacting protein (MLF1IP), mRNA.	36					CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		GCTTGCACTTTTGACCAGCTT	0.373													6	44					0	0	1	0	0	C	185650178	T	C	185650178	2	2	111	1	0	0	0	0	0	0	0	1	9615	1838	64	3		3	MLF1IP	4	185650178	Silent	SNP	T	TCGA-DU-8168-01A-11D-2253-08	11357561	185650178	5504098	17	4995											
THBS4	7060	broad.mit.edu	37	chr5	79335903	79335903	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctcccttcttcccagtctTtgaccttctcccatcttcca	4	17	2	18	0	5	1	0	1	5	0	9	1	7	1	5	0	0	0	5	0	0	6			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr5:79335903T>G	uc021yaw.1	+	1	283	c.92T>G	c.(91-93)tTt>tGt	p.F31C		NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	31	TSP N-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TTCCCAGTCTTTGACCTTCTC	0.493													52	66					0	0	1	0	0	G	79335903	T	G	79335903	3	3	111	1	0	0	0	0	1	0	0	0	15853	1841	64	5	98	5	THBS4	5	79335903	Missense_Mutation	SNP	T	TCGA-DU-8168-01A-11D-2253-08		79335903	101579357	18	4996											
DMXL1	1657	broad.mit.edu	37	chr5	118479596	118479598	+	In_Frame_Del	DEL	ATT	ATT	-																															caacagccaggccaggatgcAttattgcattagatcccatt																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr5:118479596_118479598delATT	uc010jcl.1	+	13	2618_2620	c.2437_2439delATT	c.(2437-2439)attdel	p.I814del	DMXL1_uc003ksd.2_In_Frame_Del_p.I814del|DMXL1_uc021ycw.1_In_Frame_Del_p.I641del	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	814										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GCCAGGATGCATTATTGCATTAG	0.286													122	281	---	---	---	---						-	118479598	ATT	-	118479596	7	5	111	1	0	1	0	1	0	0	0	0	4594	217	8	0	2491	0	DMXL1	5	118479596	In_Frame_Del	DEL	ATT	TCGA-DU-8168-01A-11D-2253-08	39143693	118479596	62435664	19	4997											
HSD17B4	3295	broad.mit.edu	37	chr5	118810104	118810106	+	In_Frame_Del	DEL	GAA	GAA	-																															cctttccctcagattcagtgGaagaaggagagaaggttgtg																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr5:118810104_118810106delGAA	uc003ksj.3	+	3	362_364	c.229_231delGAA	c.(229-231)gaadel	p.E78del	HSD17B4_uc011cwh.2_In_Frame_Del_p.E60del|HSD17B4_uc011cwg.2_In_Frame_Del_p.E54del|HSD17B4_uc011cwi.2_In_Frame_Del_p.E103del|HSD17B4_uc003ksk.4_5'UTR|HSD17B4_uc011cwj.2_5'Flank|HSD17B4_uc010jcn.2_5'Flank	NM_000414	NP_000405	P51659	DHB4_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 4 (HSD17B4), transcript variant 2, mRNA.	78	(3R)-hydroxyacyl-CoA dehydrogenase.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	p.E77E(2)		breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	AGATTCAGTGGAAGAAGGAGAGA	0.419													79	120	---	---	---	---						-	118810106	GAA	-	118810104	7	5	111	1	0	1	0	1	0	0	0	0	7386	1175	41	0	243	0	HSD17B4	5	118810104	In_Frame_Del	DEL	GAA	TCGA-DU-8168-01A-11D-2253-08	330508	118810104	62105156	20	4998											
NDST1	3340	broad.mit.edu	37	chr5	149927941	149927941	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctggctcagtgcctatcaCgccaaccaggtagctgctgt	7	9	11	14	2	2	0	2	0	0	0	2	0	2	0	3	2	4	5	3	2	3	2			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr5:149927941C>T	uc003lsk.4	+	11	2809	c.2307C>T	c.(2305-2307)caC>caT	p.H769H	NDST1_uc011dcj.2_Intron	NM_001543	NP_001534	P52848	NDST1_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA.	769	Heparan sulfate N-sulfotransferase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGCCTATCACGCCAACCAGG	0.627													18	32					0	0	1	0	0	T	149927941	C	T	149927941	2	4	111	1	0	0	0	0	0	0	0	1	10255	535	19	1		1	NDST1	5	149927941	Silent	SNP	C	TCGA-DU-8168-01A-11D-2253-08	31117837	149927941	30987319	21	4999											
GLRA1	2741	broad.mit.edu	37	chr5	151239373	151239373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagaggacattcccattcCgggagatccttagcaatttg	10	12	10	9	1	0	2	0	0	0	2	3	4	3	3	3	2	1	2	3	2	3	5			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr5:151239373C>T	uc003lut.3	-	3	736	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	GLRA1_uc003lur.3_Missense_Mutation_p.R150Q|GLRA1_uc003lus.3_Missense_Mutation_p.R67Q	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA.	150					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	p.R150Q(2)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATTCCCATTCCGGGAGATCCT	0.522													21	38					0	0	1	0	0	T	151239373	C	T	151239373	3	4	111	1	0	0	0	0	1	0	0	0	6454	652	23	2	948	2	GLRA1	5	151239373	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08	1311432	151239373	29675887	22	5000											
CYFIP2	26999	broad.mit.edu	37	chr5	156746913	156746915	+	In_Frame_Del	DEL	GAA	GAA	-																															cccctgcggcaggcggtacgGaagaagaagaatgtcctcat																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr5:156746913_156746915delGAA	uc021ygm.1	+	13	1635_1637	c.1497_1499delGAA	c.(1495-1500)cggaag>cgg	p.K502del	CYFIP2_uc011ddn.2_In_Frame_Del_p.K477del|CYFIP2_uc011ddo.2_In_Frame_Del_p.K307del|CYFIP2_uc021ygn.1_In_Frame_Del_p.K502del|CYFIP2_uc021ygo.1_In_Frame_Del_p.K502del|CYFIP2_uc003lwt.3_In_Frame_Del_p.K381del|CYFIP2_uc011ddp.2_In_Frame_Del_p.K237del	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	503					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGCGGTACGGAAGAAGAAGAAT	0.567													51	322	---	---	---	---						-	156746915	GAA	-	156746913	7	5	111	1	0	1	0	1	0	0	0	0	4138	1161	41	0	1550	0	CYFIP2	5	156746913	In_Frame_Del	DEL	GAA	TCGA-DU-8168-01A-11D-2253-08	5507540	156746913	24168347	23	5001											
DSP	1832	broad.mit.edu	37	chr6	7583354	7583354	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tatgggtcccatcgagagacCcagactgagtgtgagtggac	10	8	14	9	1	0	4	0	2	0	2	2	7	1	5	2	2	0	0	2	2	1	1			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr6:7583354C>A	uc003mxp.1	+	23	6138	c.5859C>A	c.(5857-5859)acC>acA	p.T1953T	DSP_uc003mxq.1_Silent_p.T1354T|DSP_uc021yle.1_Silent_p.T1510T	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1953	Globular 2.				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)		ATCGAGAGACCCAGACTGAGT	0.522													29	32					1.30897e-18	1.42181e-18	1	1	0	A	7583354	C	A	7583354	2	1	111	1	0	0	0	0	0	0	0	1	4781	610	22	5		5	DSP	6	7583354	Silent	SNP	C	TCGA-DU-8168-01A-11D-2253-08		7583354	163531713	24	5002											
SLC44A4	80736	broad.mit.edu	37	chr6	31832672	31832674	+	In_Frame_Del	DEL	AAG	AAG	-																															ggatgcgaccggagaaaaaaAagaaggacaggacccctgtg																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr6:31832672_31832674delAAG	uc010jti.3	-	18	1911_1913	c.1845_1847delCTT	c.(1843-1848)ttcttt>ttt	p.615_616FF>F	NEU1_uc003nxq.4_5'Flank|SLC44A4_uc011dol.2_In_Frame_Del_p.539_540FF>F|SLC44A4_uc011dom.2_In_Frame_Del_p.573_574FF>F	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA.	615						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GGAGAAAAAAAAGAAGGACAGGA	0.567													7	25	---	---	---	---						-	31832674	AAG	-	31832672	7	5	111	1	0	1	0	1	0	0	0	0	14638	14	1	0	297	0	SLC44A4	6	31832672	In_Frame_Del	DEL	AAG	TCGA-DU-8168-01A-11D-2253-08	24249318	31832672	139282395	25	5003											
HDAC2	3066	broad.mit.edu	37	chr6	114277817	114277818	+	Frame_Shift_Del	DEL	AA	AA	-																															gttgagagctgacaaaactcAaagagtccatcaaacactgg																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr6:114277817_114277818delAA	uc003pwd.2	-	3	610_611	c.323_324delTT	c.(322-324)tttfs	p.F108fs	HDAC2_uc003pwc.2_Frame_Shift_Del_p.F78fs|HDAC2_uc003pwe.2_Frame_Shift_Del_p.F78fs	NM_001527	NP_001518	Q92769	HDAC2_HUMAN	Homo sapiens histone deacetylase 2 (HDAC2), transcript variant 1, mRNA.	108	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	ESC/E(Z) complex|NuRD complex|Sin3 complex|cytoplasm	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|sequence-specific DNA binding|transcription factor binding	p.F108fs*1(2)|p.F202fs*1(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	GACAAAACTCAAAGAGTCCATC	0.361													16	87	---	---	---	---						-	114277818	AA	-	114277817	7	5	111	1	0	1	0	1	0	0	0	0	7007	127	5	0	1186	0	HDAC2	6	114277817	Frame_Shift_Del	DEL	AA	TCGA-DU-8168-01A-11D-2253-08	82445145	114277817	56837250	26	5004											
TSPYL4	23270	broad.mit.edu	37	chr6	116574192	116574195	+	Frame_Shift_Del	DEL	GAAA	GAAA	-																															ggtgccagcggattggagtgGaaagagacaccacccggcca																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr6:116574192_116574195delGAAA	uc003pwn.3	-	0	1067_1070	c.977_980delTTTC	c.(976-981)ctttccfs	p.L326fs	DSE_uc011ebf.1_5'Flank|DSE_uc003pwo.1_5'Flank	NM_021648	NP_067680	Q9UJ04	TSYL4_HUMAN	Homo sapiens TSPY-like 4 (TSPYL4), mRNA.	326					nucleosome assembly	nucleus				endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		GATTGGAGTGGAAAGAGACACCAC	0.525													8	75	---	---	---	---						-	116574195	GAAA	-	116574192	7	5	111	1	0	1	0	1	0	0	0	0	16658	1174	41	0	268	0	TSPYL4	6	116574192	Frame_Shift_Del	DEL	GAAA	TCGA-DU-8168-01A-11D-2253-08	2296375	116574192	54540875	27	5005											
MED23	9439	broad.mit.edu	37	chr6	131917229	131917229	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccaaaatagatgggcagAtagggagactggatctgtac	13	9	12	7	0	1	3	0	0	1	3	2	5	2	4	1	3	1	2	1	3	5	4			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr6:131917229A>G	uc003qcs.1	-	21	3027	c.2853T>C	c.(2851-2853)taT>taC	p.Y951Y	MED23_uc003qcq.3_Silent_p.Y957Y|MED23_uc003qcr.1_5'Flank|MED23_uc011eca.1_Silent_p.Y592Y	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	951					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AGATGGGCAGATAGGGAGACT	0.423													18	132					0	0	1	0	0	G	131917229	A	G	131917229	2	3	111	1	0	0	0	0	0	0	0	1	9441	340	12	3		3	MED23	6	131917229	Silent	SNP	A	TCGA-DU-8168-01A-11D-2253-08	15343037	131917229	39197838	28	5006											
ZMIZ2	83637	broad.mit.edu	37	chr7	44799776	44799776	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagttcaacgggcagggCgccagcttcaacgggggcag	9	4	17	11	3	2	0	2	0	0	0	2	1	2	0	1	4	4	5	1	4	2	2			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr7:44799776C>T	uc003tlr.3	+	7	1143	c.1020C>T	c.(1018-1020)ggC>ggT	p.G340G	ZMIZ2_uc003tlq.3_Intron|ZMIZ2_uc003tls.3_Intron|ZMIZ2_uc003tlt.3_5'UTR|ZMIZ2_uc010kyj.3_5'UTR	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	340	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ACGGGCAGGGCGCCAGCTTCA	0.687													8	55					0	0	1	0	0	T	44799776	C	T	44799776	2	4	111	1	0	0	0	0	0	0	0	1	17694	755	27	1		1	ZMIZ2	7	44799776	Silent	SNP	C	TCGA-DU-8168-01A-11D-2253-08		44799776	114338887	29	5007											
HGF	3082	broad.mit.edu	37	chr7	81372731	81372731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagagtatagcaccatggcCtcggctggccatcgggattg	9	8	13	11	2	0	1	0	0	0	1	2	2	0	2	3	4	1	3	3	4	3	3			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr7:81372731C>T	uc003uhl.3	-	6	968	c.803G>A	c.(802-804)aGg>aAg	p.R268K	HGF_uc003uhm.3_Missense_Mutation_p.R263K|HGF_uc003uhn.1_Missense_Mutation_p.R268K|HGF_uc003uho.1_Missense_Mutation_p.R263K	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	268	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GCACCATGGCCTCGGCTGGCC	0.473													46	41					0	0	1	0	0	T	81372731	C	T	81372731	3	4	111	1	0	0	0	0	1	0	0	0	7085	681	24	3	1443	3	HGF	7	81372731	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08	36572955	81372731	77765932	30	5008											
KLHDC10	23008	broad.mit.edu	37	chr7	129710591	129710591	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtgggggcagcgggggTcgggggactggccagctcaa	6	4	22	9	2	1	0	1	0	0	0	2	1	1	1	1	8	2	3	1	8	1	0			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr7:129710591T>G	uc003vpj.2	+	0	243	c.108T>G	c.(106-108)ggT>ggG	p.G36G	KLHDC10_uc003vpk.2_Silent_p.G36G|KLHDC10_uc010lmb.2_Silent_p.G36G	NM_014997	NP_055812	Q6PID8	KLD10_HUMAN	Homo sapiens kelch domain containing 10 (KLHDC10), mRNA.	36	Gly-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						gcagcgggggtcgggggACTG	0.766													5	18					0	0	1	0	0	G	129710591	T	G	129710591	2	3	111	1	0	0	0	0	0	0	0	1	8355	1654	58	5		5	KLHDC10	7	129710591	Silent	SNP	T	TCGA-DU-8168-01A-11D-2253-08	48337860	129710591	29428072	31	5009											
CHRNB3	1142	broad.mit.edu	37	chr8	42587448	42587448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacgtaccaccccatggcccCctgggttaagaggctctttc	7	9	9	16	1	1	1	0	0	1	1	2	1	1	1	5	3	1	3	5	3	2	3			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr8:42587448C>T	uc003xpi.1	+	4	1126	c.998C>T	c.(997-999)cCc>cTc	p.P333L		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	333					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CCCATGGCCCCCTGGGTTAAG	0.458													7	175					0	0	1	0	0	T	42587448	C	T	42587448	3	4	111	1	0	0	0	0	1	0	0	0	3392	623	22	3	1016	3	CHRNB3	8	42587448	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08		42587448	103776574	32	5010											
PREX2	80243	broad.mit.edu	37	chr8	69005869	69005869	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atacaatgggtttataatagCattgagagtgctcaagaaga	16	11	10	4	0	1	3	1	1	0	3	1	4	1	3	0	1	3	3	0	1	7	6			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr8:69005869C>A	uc003xxv.1	+	20	2307	c.2280C>A	c.(2278-2280)agC>agA	p.S760R	PREX2_uc003xxu.1_Missense_Mutation_p.S760R|PREX2_uc011lez.1_Missense_Mutation_p.S695R	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	760					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTTATAATAGCATTGAGAGTG	0.423													46	91					8.72198e-27	9.99063e-27	1	1	0	A	69005869	C	A	69005869	3	1	111	1	0	0	0	0	1	0	0	0	12477	709	25	5	2362	5	PREX2	8	69005869	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08	26418421	69005869	77358153	33	5011											
TMEM71	137835	broad.mit.edu	37	chr8	133764099	133764099	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttatgttgccatctttgtcGcacaggaagctgtcttcagt	7	15	10	9	1	3	0	1	0	2	0	4	1	3	1	1	1	2	4	1	1	2	4			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr8:133764099G>A	uc003ytn.3	-	3	475	c.246C>T	c.(244-246)tgC>tgT	p.C82C	TMEM71_uc003yto.3_Silent_p.C82C	NM_144649	NP_653250	Q6P5X7	TMM71_HUMAN	Homo sapiens transmembrane protein 71 (TMEM71), transcript variant 1, mRNA.	82						integral to membrane		p.C82C(2)|p.L81V(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CATCTTTGTCGCACAGGAAGC	0.468													65	94					0	0	1	0	0	A	133764099	G	A	133764099	2	1	111	1	0	0	0	0	0	0	0	1	16197	1079	38	1		1	TMEM71	8	133764099	Silent	SNP	G	TCGA-DU-8168-01A-11D-2253-08	64758230	133764099	12599923	34	5012											
BICD2	23299	broad.mit.edu	37	chr9	95527083	95527084	+	Splice_Site	INS	-	-	GCC																															cgcaggccgggccctcctcaINSgccgccgccgctgccgccgc																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr9:95527083_95527084insGCC	uc004asp.1	-	1	1	c.-56_splice	c.e1-1		BICD2_uc004aso.1_Splice_Site	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN	Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA.						microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	Golgi apparatus|cytoplasmic vesicle|cytoskeleton|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GGCCCTCCTCAgccgccgccgc	0.822													3	3	---	---	---	---						GCC	95527084	-	GCC	95527083	8	5	111	1	0	1	1	0	0	0	1	0	1429	202	7	0		0	BICD2	9	95527083	Splice_Site	INS	-	TCGA-DU-8168-01A-11D-2253-08		95527083	45686348	35	5013											
PAEP	5047	broad.mit.edu	37	chr9	138453690	138453690	+	Frame_Shift_Del	DEL	G	G	-																															tgggcgtggccctggtctgtGgtgtcccggccatggacatc																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr9:138453690delG	uc004cge.1	+	0	87	c.43delG	c.(43-45)ggtfs	p.G15fs	PAEP_uc010naw.1_Frame_Shift_Del_p.G15fs|PAEP_uc010nay.3_Frame_Shift_Del_p.G15fs|PAEP_uc010naz.3_Non-coding_Transcript|PAEP_uc010nba.1_Frame_Shift_Del_p.G15fs|PAEP_uc004cgd.1_Frame_Shift_Del_p.G15fs|PAEP_uc011mdp.1_Frame_Shift_Del_p.G15fs|PAEP_uc004cgg.1_Frame_Shift_Del_p.G15fs|PAEP_uc004cgf.1_Frame_Shift_Del_p.G15fs	NM_001018049	NP_002562	P09466	PAEP_HUMAN	Homo sapiens progestagen-associated endometrial protein (PAEP), transcript variant 1, mRNA.	15					multicellular organismal development	extracellular region	binding|transporter activity			cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CCTGGTCTGTGGTGTCCCGGC	0.667													2	4	---	---	---	---						-	138453690	G	-	138453690	7	5	111	1	0	1	0	1	0	0	0	0	11382	1348	47	0	45	0	PAEP	9	138453690	Frame_Shift_Del	DEL	G	TCGA-DU-8168-01A-11D-2253-08	42926607	138453690	2759741	36	5014											
NOTCH1	4851	broad.mit.edu	37	chr9	139412252	139412254	+	In_Frame_Del	DEL	CGT	CGT	-																															aatctggtccaggcaggtggCgtcgttctggcacgggttcg																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr9:139412252_139412254delCGT	uc004chz.3	-	7	1391_1393	c.1391_1393delACG	c.(1390-1395)gacgcc>gcc	p.D464del		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	464	EGF-like 12; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGCAGGTGGCGTCGTTCTGGCA	0.665			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			25	132	---	---	---	---						-	139412254	CGT	-	139412252	7	5	111	1	0	1	0	1	0	0	0	0	10547	768	27	0	6382	0	NOTCH1	9	139412252	In_Frame_Del	DEL	CGT	TCGA-DU-8168-01A-11D-2253-08	958562	139412252	1801179	37	5015											
NOTCH1	4851	broad.mit.edu	37	chr9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-																															gccatggggacactcgcagtAgaaggaggccacacggtcat																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr9:139413070_139413072delAGA	uc004chz.3	-	5	1070_1072	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	357	EGF-like 9; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.F357delF(6)|p.S356del(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			10	20	---	---	---	---						-	139413072	AGA	-	139413070	7	5	111	1	0	1	0	1	0	0	0	0	10547	420	15	0	6711	0	NOTCH1	9	139413070	In_Frame_Del	DEL	AGA	TCGA-DU-8168-01A-11D-2253-08	818	139413070	1800361	38	5016											
POLR3A	11128	broad.mit.edu	37	chr10	79773462	79773462	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctgtttgaggaagatgaagGttcatttcatcaccatcaaa	13	13	8	7	0	5	3	4	2	1	1	5	4	5	4	1	2	0	2	1	2	3	3			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr10:79773462G>T	uc001jzn.3	-	10	1651	c.1518C>A	c.(1516-1518)aaC>aaA	p.N506K		NM_007055	NP_008986	O14802	RPC1_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA.	506					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GAAGATGAAGGTTCATTTCAT	0.478													45	71					2.43468e-25	2.73902e-25	1	1	0	T	79773462	G	T	79773462	3	4	111	1	0	0	0	0	1	0	0	0	12228	1252	44	5	2738	5	POLR3A	10	79773462	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08		79773462	55761285	39	5017											
FANK1	92565	broad.mit.edu	37	chr10	127668874	127668874	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctcgattgaagaagaagAccccaaaatgcacacttatg	15	9	8	9	1	1	4	0	1	1	3	2	5	1	4	2	0	1	2	2	0	6	3			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr10:127668874A>G	uc009yan.3	+	1	262	c.158A>G	c.(157-159)gAc>gGc	p.D53G	FANK1_uc010quk.1_Missense_Mutation_p.D47G|FANK1_uc001ljh.4_Missense_Mutation_p.D53G|FANK1_uc001lji.3_Missense_Mutation_p.D47G	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN	Homo sapiens fibronectin type III and ankyrin repeat domains 1 (FANK1), mRNA.	53	Fibronectin type-III.					cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GAAGAAGAAGACCCCAAAATG	0.428													30	30					0	0	1	0	0	G	127668874	A	G	127668874	3	3	111	1	0	0	0	0	1	0	0	0	5672	275	10	3	164	3	FANK1	10	127668874	Missense_Mutation	SNP	A	TCGA-DU-8168-01A-11D-2253-08	47895412	127668874	7865873	40	5018											
TCERG1L	256536	broad.mit.edu	37	chr10	132944858	132944861	+	Frame_Shift_Del	DEL	CAGA	CAGA	-																															tcaggtccatgggcttctccCagacagacaggtgcatcgtt																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr10:132944858_132944861delCAGA	uc001lkp.3	-	6	1183_1186	c.1097_1100delTCTG	c.(1096-1101)gtctggfs	p.V366fs	TCERG1L_uc009yax.1_Non-coding_Transcript	NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	Homo sapiens transcription elongation regulator 1-like (TCERG1L), mRNA.	366	WW 2.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		GGGCTTCTCCCAGACAGACAGGTG	0.554													15	45	---	---	---	---						-	132944861	CAGA	-	132944858	7	5	111	1	0	1	0	1	0	0	0	0	15683	595	21	0	684	0	TCERG1L	10	132944858	Frame_Shift_Del	DEL	CAGA	TCGA-DU-8168-01A-11D-2253-08	5275984	132944858	2589889	41	5019											
TALDO1	6888	broad.mit.edu	37	chr11	755990	755990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcgattgcctatggccGgaagctgggcgggtgagtgc	6	7	20	8	3	0	1	0	1	0	0	0	4	0	3	2	6	3	1	2	6	2	2			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr11:755990G>A	uc001lqz.3	+	1	259	c.209G>A	c.(208-210)cGg>cAg	p.R70Q	TALDO1_uc010qwl.2_Missense_Mutation_p.R70Q|TALDO1_uc001lra.3_Missense_Mutation_p.R70Q	NM_006755	NP_006746	P37837	TALDO_HUMAN	Homo sapiens transaldolase 1 (TALDO1), mRNA.	70					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		GCCTATGGCCGGAAGCTGGGC	0.607													3	30					0	0	1	0	0	A	755990	G	A	755990	3	1	111	1	0	0	0	0	1	0	0	0	15540	1116	39	2	215	2	TALDO1	11	755990	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08		755990	134250526	42	5020											
MUC2	4583	broad.mit.edu	37	chr11	1101611	1101611	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgtgtgcccgctgggattcGaagtgaagagcaagatggtg	9	8	16	8	3	0	3	0	1	0	2	1	5	0	4	2	2	2	2	2	2	3	1			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr11:1101611G>A	uc001lsx.1	+	43	7639	c.7612G>A	c.(7612-7614)Gaa>Aaa	p.E2538K		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4904						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCTGGGATTCGAAGTGAAGAG	0.642													72	74					0	0	1	0	0	A	1101611	G	A	1101611	3	1	111	1	0	0	0	0	1	0	0	0	9975	1059	37	2	7782	2	MUC2	11	1101611	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08	345621	1101611	133904905	43	5021											
NLRP14	338323	broad.mit.edu	37	chr11	7081199	7081199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacacaacaagagcctgaCgcatctggatctaggatcaa	14	8	8	11	1	4	2	1	1	3	1	4	4	4	4	1	2	3	1	1	2	5	2			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr11:7081199C>T	uc001mfb.1	+	8	3031	c.2708C>T	c.(2707-2709)aCg>aTg	p.T903M		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	903					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AAGAGCCTGACGCATCTGGAT	0.453													14	151					0	0	1	0	0	T	7081199	C	T	7081199	3	4	111	1	0	0	0	0	1	0	0	0	10476	536	19	1	2738	1	NLRP14	11	7081199	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08	5979588	7081199	127925317	44	5022											
PTPRJ	5795	broad.mit.edu	37	chr11	48149530	48149530	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgctccagcaccttctacaAcatcacagtgtgtcctgtcc	8	10	6	17	1	2	0	1	0	1	0	5	0	5	0	5	0	3	2	5	0	2	2			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr11:48149530A>G	uc001ngp.4	+	6	1647	c.1292A>G	c.(1291-1293)aAc>aGc	p.N431S	PTPRJ_uc001ngo.4_Missense_Mutation_p.N431S	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	431	Fibronectin type-III 4.				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ACCTTCTACAACATCACAGTG	0.577													52	62					0	0	1	0	0	G	48149530	A	G	48149530	3	3	111	1	0	0	0	0	1	0	0	0	12804	43	2	3	1318	3	PTPRJ	11	48149530	Missense_Mutation	SNP	A	TCGA-DU-8168-01A-11D-2253-08	41068331	48149530	86856986	45	5023											
CREBZF	58487	broad.mit.edu	37	chr11	85375242	85375244	+	In_Frame_Del	DEL	CTT	CTT	-																															tccagccccatcacgtactcCttcttcttcagtcgattaag																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr11:85375242_85375244delCTT	uc001pas.2	-	0	939_941	c.676_678delAAG	c.(676-678)aagdel	p.K226del	CREBZF_uc010rtd.1_Non-coding_Transcript|CREBZF_uc010rtc.1_Non-coding_Transcript	NM_001039618	NP_001034707	Q9NS37	ZHANG_HUMAN	Homo sapiens CREB/ATF bZIP transcription factor (CREBZF), transcript variant 1, mRNA.	226					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K226delK(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCACGTACTCCTTCTTCTTCAGT	0.665											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	57	128	---	---	---	---						-	85375244	CTT	-	85375242	7	5	111	1	0	1	0	1	0	0	0	0	3863	680	24	0	390	0	CREBZF	11	85375242	In_Frame_Del	DEL	CTT	TCGA-DU-8168-01A-11D-2253-08	37225712	85375242	49631274	46	5024											
FAM90A1	55138	broad.mit.edu	37	chr12	8376782	8376782	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctggtacttctggccgtgtgGccaaaggcctcacagttttt	6	13	11	11	1	2	0	1	0	1	0	2	0	2	0	3	4	1	2	3	4	2	4	rs77163560		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr12:8376782G>A	uc001qui.2	-	4	712	c.153C>T	c.(151-153)ggC>ggT	p.G51G	FAM90A1_uc001quh.2_Silent_p.G51G	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	51							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TGGCCGTGTGGCCAAAGGCCT	0.537													38	46					0	0	1	0	0	A	8376782	G	A	8376782	2	1	111	1	0	0	0	0	0	0	0	1	5650	1190	42	3		3	FAM90A1	12	8376782	Silent	SNP	G	TCGA-DU-8168-01A-11D-2253-08		8376782	125475113	47	5025											
ITGB7	3695	broad.mit.edu	37	chr12	53586167	53586169	+	In_Frame_Del	DEL	AAG	AAG	-																															ctctggcgtcatcctccaccAagaagaagaacagctggttg																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr12:53586167_53586169delAAG	uc009zmv.3	-	12	2171_2173	c.2100_2102delCTT	c.(2098-2103)ttcttg>ttg	p.F700del	ITGB7_uc001scc.3_In_Frame_Del_p.F700del|ITGB7_uc010snz.2_Non-coding_Transcript	NM_000889	NP_000880	P26010	ITB7_HUMAN	Homo sapiens integrin, beta 7 (ITGB7), mRNA.	700					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATCCTCCACCAAGAAGAAGAACA	0.567													42	125	---	---	---	---						-	53586169	AAG	-	53586167	7	5	111	1	0	1	0	1	0	0	0	0	7900	131	5	0	306	0	ITGB7	12	53586167	In_Frame_Del	DEL	AAG	TCGA-DU-8168-01A-11D-2253-08	45209385	53586167	80265728	48	5026											
ERBB3	2065	broad.mit.edu	37	chr12	56495375	56495377	+	In_Frame_Del	DEL	GAA	GAA	-																															tcagttctgtcctgggtactGaagaagaagatgaagatgag																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr12:56495375_56495377delGAA	uc001sjh.3	+	27	3841_3843	c.3565_3567delGAA	c.(3565-3567)gaadel	p.E1191del	ERBB3_uc009zoj.3_Non-coding_Transcript|ERBB3_uc010sqb.2_In_Frame_Del_p.E548del|ERBB3_uc010sqc.2_In_Frame_Del_p.E1132del|ERBB3_uc009zok.3_In_Frame_Del_p.E456del|ERBB3_uc001sjk.3_In_Frame_Del_p.E432del|ERBB3_uc001sjl.3_In_Frame_Del_p.E311del|PA2G4_uc001sjm.3_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) (ERBB3), transcript variant 1, mRNA.	1191					Schwann cell differentiation|cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CCTGGGTACTGAAGAAGAAGATG	0.522													9	75	---	---	---	---						-	56495377	GAA	-	56495375	7	5	111	1	0	1	0	1	0	0	0	0	5208	1291	45	0	3806	0	ERBB3	12	56495375	In_Frame_Del	DEL	GAA	TCGA-DU-8168-01A-11D-2253-08	2909208	56495375	77356520	49	5027											
TIMELESS	8914	broad.mit.edu	37	chr12	56827689	56827689	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcctcatgcctcaaatagCggatcagatccttcacgctc	10	10	6	15	2	4	1	4	0	0	1	7	2	6	2	3	1	2	1	3	1	2	2			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr12:56827689C>G	uc001slf.2	-	2	287	c.119G>C	c.(118-120)cGc>cCc	p.R40P	TIMELESS_uc001slg.2_Missense_Mutation_p.R40P	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	40					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CCTCAAATAGCGGATCAGATC	0.542													15	147					0	0	1	0	0	G	56827689	C	G	56827689	3	3	111	1	0	0	0	0	1	0	0	0	15901	768	27	5	3615	5	TIMELESS	12	56827689	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08	332314	56827689	77024206	50	5028											
ZBTB39	9880	broad.mit.edu	37	chr12	57398076	57398076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggtgtcatggtcttctGtctttggcggtggtgggggc	2	13	19	7	1	4	0	1	0	3	0	4	0	4	0	0	8	0	0	0	8	0	2			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr12:57398076G>A	uc001sml.2	-	1	779	c.626C>T	c.(625-627)aCa>aTa	p.T209I	ZBTB39_uc021qzg.1_Missense_Mutation_p.T209I	NM_014830	NP_055645	O15060	ZBT39_HUMAN	Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						ATGGTCTTCTGTCTTTGGCGG	0.572													14	83					0	0	1	0	0	A	57398076	G	A	57398076	3	1	111	1	0	0	0	0	1	0	0	0	17537	1377	48	3	1516	3	ZBTB39	12	57398076	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08	570387	57398076	76453819	51	5029											
MGAT4C	25834	broad.mit.edu	37	chr12	86373329	86373329	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgttccagtatttactttaAttttttttattataattgga	10	23	4	4	0	0	0	0	0	0	0	1	1	1	1	1	1	1	2	1	1	6	13			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr12:86373329A>T	uc010sum.2	-	5	1406	c.1247T>A	c.(1246-1248)aTt>aAt	p.I416N	MGAT4C_uc001tal.4_Missense_Mutation_p.I392N|MGAT4C_uc001taj.4_Missense_Mutation_p.I392N|MGAT4C_uc001tak.4_Missense_Mutation_p.I392N|MGAT4C_uc001tai.4_Missense_Mutation_p.I392N|MGAT4C_uc001tah.4_Missense_Mutation_p.I392N	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	392					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATTTACtttaattttttttat	0.353													6	24					0	0	1	0	0	T	86373329	A	T	86373329	3	4	111	1	0	0	0	0	1	0	0	0	9547	101	4	5	265	5	MGAT4C	12	86373329	Missense_Mutation	SNP	A	TCGA-DU-8168-01A-11D-2253-08	28975253	86373329	47478566	52	5030											
ARHGAP11A	9824	broad.mit.edu	37	chr15	32929682	32929682	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatcaggtcctaaagaacAgaagtccatgtcatgtgaag	16	8	9	8	0	2	3	2	1	0	2	4	3	4	3	2	1	1	0	2	1	6	1			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr15:32929682A>G	uc001zgy.1	+	11	3430	c.2708A>G	c.(2707-2709)cAg>cGg	p.Q903R	ARHGAP11A_uc010ubw.1_Missense_Mutation_p.Q714R|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.Q714R	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN	Homo sapiens Rho GTPase activating protein 11A (ARHGAP11A), transcript variant 1, mRNA.	903					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		CCTAAAGAACAGAAGTCCATG	0.398													39	49					0	0	1	0	0	G	32929682	A	G	32929682	3	3	111	1	0	0	0	0	1	0	0	0	863	188	7	4	2777	4	ARHGAP11A	15	32929682	Missense_Mutation	SNP	A	TCGA-DU-8168-01A-11D-2253-08		32929682	69601710	53	5031											
CLPX	10845	broad.mit.edu	37	chr15	65443196	65443198	+	In_Frame_Del	DEL	CTT	CTT	-																															atctgcttggcggggccatcCttcttcttcaactccagagt																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr15:65443196_65443198delCTT	uc002aom.3	-	13	1937_1939	c.1865_1867delAAG	c.(1864-1869)gaagga>gga	p.E622del	CLPX_uc010uiu.2_Non-coding_Transcript	NM_006660	NP_006651	O76031	CLPX_HUMAN	Homo sapiens ClpX caseinolytic peptidase X homolog (E. coli) (CLPX), mRNA.	622					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						CGGGGCCATCCTTCTTCTTCAAC	0.384													96	166	---	---	---	---						-	65443198	CTT	-	65443196	7	5	111	1	0	1	0	1	0	0	0	0	3556	690	24	0	38	0	CLPX	15	65443196	In_Frame_Del	DEL	CTT	TCGA-DU-8168-01A-11D-2253-08	32513514	65443196	37088196	54	5032											
AKAP13	11214	broad.mit.edu	37	chr15	86262400	86262400	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggatctgctttttgagcAgcagatggtagaaaagctgt	10	11	14	6	1	1	3	0	1	1	2	1	4	1	4	0	3	4	5	0	3	3	3			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr15:86262400A>C	uc002blv.1	+	22	6265	c.6095A>C	c.(6094-6096)cAg>cCg	p.Q2032P	AKAP13_uc002blu.1_Missense_Mutation_p.Q2036P|AKAP13_uc010bnf.1_Missense_Mutation_p.Q653P|AKAP13_uc002blw.1_Missense_Mutation_p.Q497P|AKAP13_uc002blx.1_Missense_Mutation_p.Q277P	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	2032	DH.|Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CTTTTTGAGCAGCAGATGGTA	0.483													22	33					0	0	1	0	0	C	86262400	A	C	86262400	3	2	111	1	0	0	0	0	1	0	0	0	449	188	7	5	6251	5	AKAP13	15	86262400	Missense_Mutation	SNP	A	TCGA-DU-8168-01A-11D-2253-08	20819204	86262400	16268992	55	5033											
RPUSD1	113000	broad.mit.edu	37	chr16	837405	837405	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccttgaagcacctgtacgcGctgccggcggctgccttgtt	4	11	12	14	4	0	1	0	1	0	0	1	1	1	1	4	2	4	5	4	2	2	4			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr16:837405G>A	uc002cka.3	-	1	489	c.255C>T	c.(253-255)agC>agT	p.S85S	RPUSD1_uc002ckb.3_Silent_p.S85S|CHTF18_uc010uus.1_5'Flank|CHTF18_uc010bre.1_5'Flank|CHTF18_uc002cke.4_5'Flank|CHTF18_uc002ckf.4_5'Flank|CHTF18_uc010brf.3_5'Flank|CHTF18_uc002ckg.4_5'Flank	NM_058192	NP_478072	Q9UJJ7	RUSD1_HUMAN	Homo sapiens RNA pseudouridylate synthase domain containing 1 (RPUSD1), mRNA.	85					pseudouridine synthesis		RNA binding|pseudouridine synthase activity			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				ACCTGTACGCGCTGCCGGCGG	0.632													2	3					0	0	1	0	0	A	837405	G	A	837405	2	1	111	1	0	0	0	0	0	0	0	1	13666	1078	38	1		1	RPUSD1	16	837405	Silent	SNP	G	TCGA-DU-8168-01A-11D-2253-08		837405	89517348	56	5034											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1797211	1797211	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagaacagcaagcgtgcccGggagaagcgcgacagccgca	13	1	14	13	5	0	2	0	0	0	2	0	4	0	2	2	1	6	2	2	1	4	0			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr16:1797211G>T	uc010uvl.2	+	5	1049	c.929G>T	c.(928-930)cGg>cTg	p.R310L	MAPK8IP3_uc002cmj.1_Non-coding_Transcript|MAPK8IP3_uc002cmk.3_Missense_Mutation_p.R309L|MAPK8IP3_uc002cml.3_Missense_Mutation_p.R309L|MAPK8IP3_uc021tah.1_Missense_Mutation_p.R309L	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	309					vesicle-mediated transport	Golgi membrane	MAP-kinase scaffold activity|kinesin binding|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AAGCGTGCCCGGGAGAAGCGC	0.662													24	39					1.42536e-11	1.49662e-11	1	1	0	T	1797211	G	T	1797211	3	4	111	1	0	0	0	0	1	0	0	0	9286	1116	39	5	948	5	MAPK8IP3	16	1797211	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08	959806	1797211	88557542	57	5035											
C16orf86	388284	broad.mit.edu	37	chr16	67701892	67701892	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagagtgagccctcaccAtctgccaaacagcacaaaaa	16	4	7	14	0	2	2	1	1	1	1	2	2	2	2	4	0	5	1	4	0	3	0			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr16:67701892A>G	uc002ety.3	+	2	601	c.444A>G	c.(442-444)ccA>ccG	p.P148P	C16orf48_uc002etw.1_5'Flank|C16orf86_uc002etx.1_Silent_p.P163P|C16orf86_uc002etz.3_Non-coding_Transcript	NM_001012984	NP_001013002	Q6ZW13	CP086_HUMAN	Homo sapiens chromosome 16 open reading frame 86 (C16orf86), mRNA.	148										endometrium(2)|lung(4)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		AGCCCTCACCATCTGCCAAAC	0.607											OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	29					0	0	1	0	0	G	67701892	A	G	67701892	2	3	111	1	0	0	0	0	0	0	0	1	1839	204	8	3		3	C16orf86	16	67701892	Silent	SNP	A	TCGA-DU-8168-01A-11D-2253-08	65904681	67701892	22652861	58	5036											
DPEP2	64174	broad.mit.edu	37	chr16	68026419	68026419	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatccctgtggtacctgggcGcccacgaggccatctctaag	7	9	11	14	2	1	0	0	0	1	0	3	1	2	0	4	3	1	1	4	3	3	3	rs151283462		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr16:68026419G>A	uc010cey.3	-	1	548	c.384C>T	c.(382-384)ggC>ggT	p.G128G	DPEP2_uc002eve.3_Silent_p.G128G|DPEP2_uc002evf.3_Non-coding_Transcript|DPEP2_uc002evg.3_Intron	NM_022355	NP_071750	Q9H4A9	DPEP2_HUMAN	Homo sapiens dipeptidase 2 (DPEP2), mRNA.	128					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		GTACCTGGGCGCCCACGAGGC	0.567													44	62					0	0	1	0	0	A	68026419	G	A	68026419	2	1	111	1	0	0	0	0	0	0	0	1	4714	1074	38	1		1	DPEP2	16	68026419	Silent	SNP	G	TCGA-DU-8168-01A-11D-2253-08	324527	68026419	22328334	59	5037											
LIG3	3980	broad.mit.edu	37	chr17	33328319	33328319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggggctgaattctccaaatCggaggctcatacagctgacg	11	8	12	10	2	2	2	1	2	1	0	4	3	2	3	1	4	2	3	1	4	3	2			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr17:33328319C>T	uc002hik.2	+	16	2504	c.2375C>T	c.(2374-2376)tCg>tTg	p.S792L	LIG3_uc002hij.3_Missense_Mutation_p.S792L	NM_013975	NP_039269	P49916	DNLI3_HUMAN	Homo sapiens ligase III, DNA, ATP-dependent (LIG3), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA.	792					DNA ligation involved in DNA repair|DNA replication|base-excision repair|cell division|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	TTCTCCAAATCGGAGGCTCAT	0.532								Other BER factors					20	32					0	0	1	0	0	T	33328319	C	T	33328319	3	4	111	1	0	0	0	0	1	0	0	0	8782	893	31	2	2437	2	LIG3	17	33328319	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08		33328319	47866891	60	5038											
UNC45B	146862	broad.mit.edu	37	chr17	33495136	33495136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatgccatccagacagtgtCagggatcctgcagggcccct	9	7	12	13	0	1	1	1	0	0	1	3	3	3	2	5	2	2	1	5	2	1	0			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr17:33495136C>T	uc002hja.3	+	9	1305	c.1208C>T	c.(1207-1209)tCa>tTa	p.S403L	UNC45B_uc002hjb.3_Missense_Mutation_p.S403L|UNC45B_uc002hjc.3_Missense_Mutation_p.S403L|UNC45B_uc010cto.3_Missense_Mutation_p.S403L	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	403					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CAGACAGTGTCAGGGATCCTG	0.547													35	64					0	0	1	0	0	T	33495136	C	T	33495136	3	4	111	1	0	0	0	0	1	0	0	0	16986	838	29	3	1242	3	UNC45B	17	33495136	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08	166817	33495136	47700074	61	5039											
SEC14L1	6397	broad.mit.edu	37	chr17	75208130	75208130	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctatcactccaagaggtcGccacaaccacccaaaaagga	16	5	6	14	1	2	1	1	0	1	1	4	2	3	2	4	2	1	0	4	2	5	1			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr17:75208130G>A	uc010dhc.3	+	14	2030	c.1710G>A	c.(1708-1710)tcG>tcA	p.S570S	SEC14L1_uc021udw.1_Silent_p.S570S|SEC14L1_uc021udx.1_Silent_p.S570S|SEC14L1_uc002jto.3_Silent_p.S570S|SEC14L1_uc010wth.2_Silent_p.S570S|SEC14L1_uc002jtm.3_Silent_p.S570S|SEC14L1_uc010wti.2_Silent_p.S536S|SEC14L1_uc010wtj.1_Intron|SEC14L1_uc002jtr.2_5'UTR	NM_001039573	NP_001191337	Q92503	S14L1_HUMAN	Homo sapiens SEC14-like 1 (S. cerevisiae) (SEC14L1), transcript variant 2, mRNA.	570	GOLD.				transport	Golgi apparatus|integral to membrane	binding	p.R569K(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CCAAGAGGTCGCCACAACCAC	0.527													125	195					0	0	1	0	0	A	75208130	G	A	75208130	2	1	111	1	0	0	0	0	0	0	0	1	13981	1074	38	1		1	SEC14L1	17	75208130	Silent	SNP	G	TCGA-DU-8168-01A-11D-2253-08	41712994	75208130	5987080	62	5040											
TNRC6C	57690	broad.mit.edu	37	chr17	76094488	76094488	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccacacgcaagcctctctGtctcatgaactatggaaggt	10	10	8	13	1	2	1	1	1	2	0	5	2	3	2	2	2	2	1	2	2	4	1	rs145461604	by1000genomes	TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr17:76094488G>T	uc002jud.2	+	17	4971	c.4371G>T	c.(4369-4371)ctG>ctT	p.L1457L	TNRC6C_uc002juf.2_Silent_p.L1493L	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	1457	Sufficient for translational repression when tethered to a target mRNA.				gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AAGCCTCTCTGTCTCATGAAC	0.557													17	17					8.34094e-07	8.47547e-07	1	1	0	T	76094488	G	T	76094488	2	4	111	1	0	0	0	0	0	0	0	1	16339	1364	48	5		5	TNRC6C	17	76094488	Silent	SNP	G	TCGA-DU-8168-01A-11D-2253-08	886358	76094488	5100722	63	5041											
DSG1	1828	broad.mit.edu	37	chr18	28934739	28934739	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgataaccgaccagcatcAaacgtggtagtgacagagag	15	5	11	10	3	1	2	1	1	0	1	1	5	1	2	2	1	3	2	2	1	3	2			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr18:28934739A>G	uc002kwp.3	+	14	2792	c.2580A>G	c.(2578-2580)tcA>tcG	p.S860S	DSG1_uc010xbp.2_Silent_p.S219S	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	860					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GACCAGCATCAAACGTGGTAG	0.512													17	182					0	0	1	0	0	G	28934739	A	G	28934739	2	3	111	1	0	0	0	0	0	0	0	1	4776	117	5	3		3	DSG1	18	28934739	Silent	SNP	A	TCGA-DU-8168-01A-11D-2253-08		28934739	49142509	64	5042											
SERPINB2	5055	broad.mit.edu	37	chr18	61570518	61570518	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accaactgcattttatttttCggcagattttcctcacccta	9	16	4	12	1	1	1	1	0	0	1	3	1	2	1	3	1	2	2	3	1	3	7			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr18:61570518C>T	uc010xeu.2	+	8	1560	c.1227C>T	c.(1225-1227)ttC>ttT	p.F409F	SERPINB2_uc002ljo.3_Silent_p.F409F|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	409					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.F409I(1)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TTTTATTTTTCGGCAGATTTT	0.388													34	42					0	0	1	0	0	T	61570518	C	T	61570518	2	4	111	1	0	0	0	0	0	0	0	1	14101	883	31	2		2	SERPINB2	18	61570518	Silent	SNP	C	TCGA-DU-8168-01A-11D-2253-08	32635779	61570518	16506730	65	5043											
KDM4B	23030	broad.mit.edu	37	chr19	5131427	5131427	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgccagcaggcctttgaGcactttgcccagaagggtcc	7	9	11	14	0	0	2	0	1	0	1	2	2	2	2	5	2	4	2	5	2	1	2			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr19:5131427G>A	uc010xim.2	+	11	1866	c.1758G>A	c.(1756-1758)gaG>gaA	p.E586E	KDM4B_uc002mbq.4_Silent_p.E552E|KDM4B_uc002mbr.4_Silent_p.E310E	NM_015015	NP_055830	O94953	KDM4B_HUMAN	Homo sapiens lysine (K)-specific demethylase 4B (KDM4B), mRNA.	552					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGGCCTTTGAGCACTTTGCCC	0.657													16	39					0	0	1	0	0	A	5131427	G	A	5131427	2	1	111	1	0	0	0	0	0	0	0	1	8129	962	34	3		3	KDM4B	19	5131427	Silent	SNP	G	TCGA-DU-8168-01A-11D-2253-08		5131427	53997556	66	5044											
MUC16	94025	broad.mit.edu	37	chr19	9058837	9058837	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgttggctctgagaagcctgGggaagaggaatagagttcct	10	10	15	6	0	1	3	0	1	1	3	2	6	2	5	2	4	1	3	2	4	4	3			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr19:9058837G>T	uc002mkp.3	-	2	28813	c.28609C>A	c.(28609-28611)Cca>Aca	p.P9537T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9539	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGAAGCCTGGGGAAGAGGAA	0.483													7	57					0.000157383	0.000157383	1	1	0	T	9058837	G	T	9058837	3	4	111	1	0	0	0	0	1	0	0	0	9973	1232	43	5	15242	5	MUC16	19	9058837	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08	3927410	9058837	50070146	67	5045											
ZNF442	79973	broad.mit.edu	37	chr19	12461542	12461542	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggtttttctccagtgtgaGttctttcatgtcttacatag	7	18	9	7	0	4	1	1	1	3	0	5	1	4	1	1	1	1	2	1	1	2	6			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr19:12461542G>T	uc002mtr.1	-	5	1468	c.857C>A	c.(856-858)aCt>aAt	p.T286N	ZNF442_uc010xmk.1_Missense_Mutation_p.T217N	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	Homo sapiens zinc finger protein 442 (ZNF442), mRNA.	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TCCAGTGTGAGTTCTTTCATG	0.413													10	131					7.03913e-09	7.26992e-09	1	1	0	T	12461542	G	T	12461542	3	4	111	1	0	0	0	0	1	0	0	0	17912	1029	36	5	1030	5	ZNF442	19	12461542	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08	3402705	12461542	46667441	68	5046											
ZNF208	7757	broad.mit.edu	37	chr19	22155320	22155320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaacttactaaaggctttgCcacattctttacatttgtag	12	15	6	8	0	1	1	0	0	1	1	1	1	1	1	1	1	4	2	1	1	6	8			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr19:22155320C>T	uc021urr.1	-	3	2665	c.2516G>A	c.(2515-2517)gGc>gAc	p.G839D	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AAAGGCTTTGCCACATTCTTT	0.373													28	21					0	0	1	0	0	T	22155320	C	T	22155320	3	4	111	1	0	0	0	0	1	0	0	0	17763	739	26	3	1330	3	ZNF208	19	22155320	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08	9693778	22155320	36973663	69	5047											
ZNF573	126231	broad.mit.edu	37	chr19	38229203	38229203	+	Splice_Site	DEL	C	C	-																															ctgtttttttttttttttttCttaatttaccattgaatagt																								rs74268405		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr19:38229203delC	uc002ohe.3	-	5	2257	c.2188_splice	c.e5+1		ZNF573_uc010efs.2_Splice_Site|ZNF573_uc002ohd.3_Splice_Site|ZNF573_uc002ohf.3_Splice_Site|ZNF573_uc002ohg.3_Splice_Site|ZNF573_uc021utv.1_Splice_Site	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TTTTTTTTTTCTTAATTTACC	0.328													2	4	---	---	---	---						-	38229203	C	-	38229203	8	5	111	1	0	1	0	1	0	0	1	0	18002	927	32	0		0	ZNF573	19	38229203	Splice_Site	DEL	C	TCGA-DU-8168-01A-11D-2253-08	16073883	38229203	20899780	70	5048											
CIC	23152	broad.mit.edu	37	chr19	42795593	42795594	+	Frame_Shift_Del	DEL	TG	TG	-																															ggcatccccatcctgcagtcTgtaccctccgccccaccccc																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr19:42795593_42795594delTG	uc002otf.1	+	9	2713_2714	c.2673_2674delTG	c.(2671-2676)tctgtafs	p.S891fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	891	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TCCTGCAGTCTGTACCCTCCGC	0.624			"Mis, F, S"		oligodendroglioma								49	12	---	---	---	---						-	42795594	TG	-	42795593	7	5	111	1	0	1	0	1	0	0	0	0	3424	1567	55	0	2711	0	CIC	19	42795593	Frame_Shift_Del	DEL	TG	TCGA-DU-8168-01A-11D-2253-08	4566390	42795593	16333390	71	5049											
SLC2A10	81031	broad.mit.edu	37	chr20	45354099	45354099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtccctctatgaggcaGgcatcaccgtgggcatcctg	6	10	13	12	1	2	1	1	1	1	0	4	1	4	1	3	4	0	3	3	4	1	1			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr20:45354099G>A	uc002xsl.3	+	1	521	c.424G>A	c.(424-426)Ggc>Agc	p.G142S		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	142			G -> V (in ATS).			endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity	p.A141V(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CTATGAGGCAGGCATCACCGT	0.622													6	143					0	0	1	0	0	A	45354099	G	A	45354099	3	1	111	1	0	0	0	0	1	0	0	0	14539	1000	35	3	430	3	SLC2A10	20	45354099	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08		45354099	17671421	72	5050											
TAB1	10454	broad.mit.edu	37	chr22	39824142	39824142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agggccagatggtcaacgggGctcacagtgcttccaccctg	8	7	13	13	1	2	1	2	0	0	1	3	1	3	1	3	4	2	2	3	4	1	1			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr22:39824142G>A	uc003axt.3	+	9	1310	c.1261G>A	c.(1261-1263)Gct>Act	p.A421T	TAB1_uc003axr.3_Missense_Mutation_p.A497T|TAB1_uc011aok.2_Missense_Mutation_p.A255T|TAB1_uc003axu.1_Missense_Mutation_p.A421T	NM_006116	NP_006107	Q15750	TAB1_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 1 (TAB1), transcript variant alpha, mRNA.	421					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						GGTCAACGGGGCTCACAGTGC	0.642													10	95					0	0	1	0	0	A	39824142	G	A	39824142	3	1	111	1	0	0	0	0	1	0	0	0	15492	1203	42	3	1299	3	TAB1	22	39824142	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08		39824142	11480424	73	5051											
CSF2RA	1438	broad.mit.edu	37	chrX	1409322	1409322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgtcaggattaacgtctcGcaattactttctggttaacg	9	14	8	10	3	3	0	1	0	2	0	4	1	3	1	1	2	3	2	1	2	4	4	rs147180621	byFrequency	TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chrX:1409322G>A	uc010nct.2	+	7	888	c.566G>A	c.(565-567)cGc>cAc	p.R189H	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.R189H|CSF2RA_uc004cpq.2_Missense_Mutation_p.R189H|CSF2RA_uc004cpn.2_Missense_Mutation_p.R189H|CSF2RA_uc004cpo.2_Missense_Mutation_p.R189H|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Missense_Mutation_p.R56H|CSF2RA_uc004cpp.2_Missense_Mutation_p.R189H|CSF2RA_uc010ncv.2_Missense_Mutation_p.R189H|CSF2RA_uc004cpr.2_Missense_Mutation_p.R189H	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	189						extracellular region|integral to plasma membrane	cytokine receptor activity	p.R189H(3)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TTAACGTCTCGCAATTACTTT	0.423													88	178					0	0	1	0	0	A	1409322	G	A	1409322	3	1	111	1	0	0	0	0	1	0	0	0	3934	1087	38	1	584	1	CSF2RA	23	1409322	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08		1409322	153861238	74	5052											
ATXN3L	92552	broad.mit.edu	37	chrX	13337542	13337542	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagttggtcagcttcacagTctggcagatcacccttgaca	9	10	11	11	0	4	2	3	1	1	1	4	3	4	3	1	3	1	3	1	3	0	3			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chrX:13337542T>C	uc010ned.3	-	0	977	c.512A>G	c.(511-513)gAc>gGc	p.D171G		NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN	Homo sapiens ataxin 3-like (ATXN3L), mRNA.	171	Josephin.				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AGCTTCACAGTCTGGCAGATC	0.393													30	49					0	0	1	0	0	C	13337542	T	C	13337542	3	2	111	1	0	0	0	0	1	0	0	0	1214	1667	58	3	559	3	ATXN3L	23	13337542	Missense_Mutation	SNP	T	TCGA-DU-8168-01A-11D-2253-08	11928220	13337542	141933018	75	5053											
CASK	8573	broad.mit.edu	37	chrX	41393959	41393959	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagattgagacattgcttacGtggaatagggtacgcaaacc	13	9	12	7	2	0	2	0	1	0	2	0	5	0	3	1	2	4	3	1	2	5	5			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chrX:41393959G>T	uc004dfk.4	-	19	1888	c.1762_splice	c.e19+1	p.H588_splice	CASK_uc004dfj.4_Splice_Site_p.H313_splice|CASK_uc004dfl.4_Splice_Site_p.H768_splice|CASK_uc004dfm.4_Splice_Site_p.H745_splice|CASK_uc004dfn.4_Splice_Site_p.H744_splice	NM_003688	NP_003679	O14936	CSKP_HUMAN	Homo sapiens calcium/calmodulin-dependent serine protein kinase (MAGUK family) (CASK), transcript variant 1, mRNA.	773					cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						CATTGCTTACGTGGAATAGGG	0.338													40	51					4.44401e-20	4.9118e-20	1	1	0	T	41393959	G	T	41393959	5	4	111	1	0	0	0	0	0	0	1	0	2665	1159	40	5	479	5	CASK	23	41393959	Splice_Site	SNP	G	TCGA-DU-8168-01A-11D-2253-08	28056417	41393959	113876601	76	5054											
CCNB3	85417	broad.mit.edu	37	chrX	50051784	50051784	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagagtgacagtgatgatgcGtttgttatagagccaatgac	12	11	13	5	1	0	6	0	4	0	2	0	7	0	6	1	0	2	2	1	0	3	3			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chrX:50051784G>A	uc004dox.4	+	5	913	c.615G>A	c.(613-615)gcG>gcA	p.A205A	CCNB3_uc004doy.3_Silent_p.A205A|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	205					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GTGATGATGCGTTTGTTATAG	0.408													30	44					0	0	1	0	0	A	50051784	G	A	50051784	2	1	111	1	0	0	0	0	0	0	0	1	2914	1132	40	1		1	CCNB3	23	50051784	Silent	SNP	G	TCGA-DU-8168-01A-11D-2253-08	8657825	50051784	105218776	77	5055											
MAGEE1	57692	broad.mit.edu	37	chrX	75649858	75649858	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcagagcaagtaccctaTccgggagtctgaaatgcggg	11	7	14	9	2	2	2	1	1	1	1	3	4	3	4	2	3	3	2	2	3	4	2			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chrX:75649858T>C	uc004ecm.2	+	0	1813	c.1535T>C	c.(1534-1536)aTc>aCc	p.I512T		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.	512	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						AAGTACCCTATCCGGGAGTCT	0.502													29	62					0	0	1	0	0	C	75649858	T	C	75649858	3	2	111	1	0	0	0	0	1	0	0	0	9185	1435	50	3	1537	3	MAGEE1	23	75649858	Missense_Mutation	SNP	T	TCGA-DU-8168-01A-11D-2253-08	25598074	75649858	79620702	78	5056											
ZCCHC12	170261	broad.mit.edu	37	chrX	117959418	117959418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgacccaagtcaatggcGtcctgccagattggaatatg	10	9	12	10	1	1	2	1	1	0	1	2	3	2	3	3	3	1	1	3	3	4	2			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chrX:117959418G>A	uc004equ.3	+	3	684	c.211G>A	c.(211-213)Gtc>Atc	p.V71I	ZCCHC12_uc022cdh.1_Missense_Mutation_p.V71I	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	Homo sapiens zinc finger, CCHC domain containing 12 (ZCCHC12), mRNA.	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	p.V71I(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						agtcaatggcgtcctgccaga	0.557													56	32					0	0	1	0	0	A	117959418	G	A	117959418	3	1	111	1	0	0	0	0	1	0	0	0	17578	1145	40	1	213	1	ZCCHC12	23	117959418	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08	42309560	117959418	37311142	79	5057											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								18	40					0	0	1	0	0	T	209113112	C	T	209113112	3	4	112	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-A5TP-01A-11D-A289-08		209113112	34086261	1	5058											
OXSM	54995	broad.mit.edu	37	chr3	25833094	25833094	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcaggccaggtcagcattCgatataaactcaagggccca	13	6	10	12	1	2	0	2	0	0	0	3	1	2	0	2	3	3	2	2	3	4	3	rs147184138		TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr3:25833094C>T	uc003cdn.3	+	1	690	c.583C>T	c.(583-585)Cga>Tga	p.R195*	NGLY1_uc011awo.2_5'Flank|OXSM_uc010hfh.3_Nonsense_Mutation_p.R195*|OXSM_uc011awp.2_Intron	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN	Homo sapiens 3-oxoacyl-ACP synthase, mitochondrial (OXSM), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	195					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GGTCAGCATTCGATATAAACT	0.433													11	68					0	0	1	0	0	T	25833094	C	T	25833094	4	4	112	1	0	0	0	0	0	1	0	0	11335	876	31	2	585	2	OXSM	3	25833094	Nonsense_Mutation	SNP	C	TCGA-DU-A5TP-01A-11D-A289-08		25833094	172189336	2	5059											
DRD5	1816	broad.mit.edu	37	chr4	9784116	9784116	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaagcgcaagatgactcagCgcatggccttggtcatggtc	10	8	12	11	2	2	2	2	1	0	1	3	2	2	2	1	3	2	2	1	3	2	1			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr4:9784116C>T	uc003gmb.4	+	0	859	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	155					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GATGACTCAGCGCATGGCCTT	0.607													5	51					0	0	1	0	0	T	9784116	C	T	9784116	3	4	112	1	0	0	0	0	1	0	0	0	4760	768	27	1	465	1	DRD5	4	9784116	Missense_Mutation	SNP	C	TCGA-DU-A5TP-01A-11D-A289-08		9784116	181370160	3	5060											
FGG	2266	broad.mit.edu	37	chr4	155530846	155530846	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtagactaagaattgctggTtagctttcagaggtttaata	13	14	10	4	0	1	3	1	0	0	3	1	3	1	3	0	2	2	5	0	2	6	8			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr4:155530846T>A	uc003ioj.3	-	5	743	c.602A>T	c.(601-603)aAc>aTc	p.N201I	FGG_uc003iog.3_Missense_Mutation_p.N201I	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	201	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GAATTGCTGGTTAGCTTTCAG	0.388													42	50					0	0	1	0	0	A	155530846	T	A	155530846	3	1	112	1	0	0	0	0	1	0	0	0	5870	1725	60	5	794	5	FGG	4	155530846	Missense_Mutation	SNP	T	TCGA-DU-A5TP-01A-11D-A289-08	145746730	155530846	35623430	4	5061											
UGT3A1	133688	broad.mit.edu	37	chr5	35954579	35954579	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccaccactgccgacttgtAcctgttggcggagacagaga	9	8	12	12	2	0	2	0	0	0	2	0	5	0	2	4	2	3	2	4	2	1	3			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr5:35954579A>G	uc003jjv.2	-	7	1489	c.1296_splice	c.e7-1	p.R432_splice	UGT3A1_uc003jjw.2_Splice_Site	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	432						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCCGACTTGTACCTGTTGGCG	0.552													6	45					0	0	1	0	0	G	35954579	A	G	35954579	5	3	112	1	0	0	0	0	0	0	1	0	16960	405	14	3	278	3	UGT3A1	5	35954579	Splice_Site	SNP	A	TCGA-DU-A5TP-01A-11D-A289-08		35954579	144960681	5	5062											
GABRB2	2561	broad.mit.edu	37	chr5	160758095	160758095	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggagagtttcccggaggTgggtgttgattgtggtcatt	6	14	17	4	1	1	2	1	1	0	1	2	4	2	3	1	5	0	2	1	5	1	5			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr5:160758095T>C	uc003lys.1	-	8	1090	c.872A>G	c.(871-873)cAc>cGc	p.H291R	GABRB2_uc011deh.1_Missense_Mutation_p.H130R|GABRB2_uc003lyr.1_Missense_Mutation_p.H291R|GABRB2_uc003lyt.1_Missense_Mutation_p.H291R|GABRB2_uc021yhg.1_Missense_Mutation_p.H228R	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	291					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTCCCGGAGGTGGGTGTTGAT	0.423													18	112					0	0	1	0	0	C	160758095	T	C	160758095	3	2	112	1	0	0	0	0	1	0	0	0	6167	1696	59	3	678	3	GABRB2	5	160758095	Missense_Mutation	SNP	T	TCGA-DU-A5TP-01A-11D-A289-08	124803516	160758095	20157165	6	5063											
EIF3B	8662	broad.mit.edu	37	chr7	2394836	2394836	+	Frame_Shift_Del	DEL	G	G	-																															cggccgccgaggagctgcccGggtcgcatgctgagccccct																										TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr7:2394836delG	uc003slx.3	+	0	363	c.280delG	c.(280-282)gggfs	p.G94fs	EIF3B_uc003sly.3_Frame_Shift_Del_p.G94fs|EIF3B_uc003slz.1_Intron	NM_003751	NP_003742	P55884	EIF3B_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit B (EIF3B), transcript variant 1, mRNA.	94					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GGAGCTGCCCGGGTCGCATGC	0.786													2	4	---	---	---	---						-	2394836	G	-	2394836	7	5	112	1	0	1	0	1	0	0	0	0	5013	1116	39	0	282	0	EIF3B	7	2394836	Frame_Shift_Del	DEL	G	TCGA-DU-A5TP-01A-11D-A289-08		2394836	156743827	7	5064											
GNAI1	2770	broad.mit.edu	37	chr7	79818476	79818476	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggtctacagtaacaccAtccagtcaattattgctatc	12	12	6	11	0	2	0	1	0	1	0	4	0	3	0	2	1	3	2	2	1	5	5			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr7:79818476A>G	uc003uhb.1	+	2	569	c.232A>G	c.(232-234)Atc>Gtc	p.I78V	GNAI1_uc011kgt.1_Missense_Mutation_p.I26V	NM_002069	NP_002060	P63096	GNAI1_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 (GNAI1), transcript variant 1, mRNA.	78					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						CAGTAACACCATCCAGTCAAT	0.398													6	22					0	0	1	0	0	G	79818476	A	G	79818476	3	3	112	1	0	0	0	0	1	0	0	0	6504	217	8	3	242	3	GNAI1	7	79818476	Missense_Mutation	SNP	A	TCGA-DU-A5TP-01A-11D-A289-08	77423640	79818476	79320187	8	5065											
PON1	5444	broad.mit.edu	37	chr7	94940783	94940783	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaggcagaagtttatgtctGatggtttttagatgcaaaag	12	15	11	3	0	1	3	0	1	1	2	1	3	1	3	0	2	1	4	0	2	6	6			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr7:94940783G>T	uc003uns.3	-	4	574	c.477C>A	c.(475-477)atC>atA	p.I159I	PON1_uc011kih.2_Silent_p.I159I	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	159					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	GTTTATGTCTGATGGTTTTTA	0.383													31	51					5.77227e-19	6.3963e-19	1	1	0	T	94940783	G	T	94940783	2	4	112	1	0	0	0	0	0	0	0	1	12248	1280	45	5		5	PON1	7	94940783	Silent	SNP	G	TCGA-DU-A5TP-01A-11D-A289-08	15122307	94940783	64197880	9	5066											
CBLL1	79872	broad.mit.edu	37	chr7	107398758	107398758	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacccgtgcttcacttgaaaAtgttcatcctcctattgccc	8	14	5	14	1	2	1	2	1	0	0	4	1	4	1	4	0	3	2	4	0	4	6			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr7:107398758A>G	uc003veq.3	+	5	941	c.611A>G	c.(610-612)aAt>aGt	p.N204S	CBLL1_uc011kme.2_Missense_Mutation_p.N83S|CBLL1_uc011kmf.2_Missense_Mutation_p.N203S	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1 (CBLL1), transcript variant 1, mRNA.	204					cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						TCACTTGAAAATGTTCATCCT	0.468													85	118					0	0	1	0	0	G	107398758	A	G	107398758	3	3	112	1	0	0	0	0	1	0	0	0	2703	101	4	3	633	3	CBLL1	7	107398758	Missense_Mutation	SNP	A	TCGA-DU-A5TP-01A-11D-A289-08	12457975	107398758	51739905	10	5067											
PLXNA4	91584	broad.mit.edu	37	chr7	131848943	131848943	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcggatgagcttgtcctcGctcaaggagtagcgggcctc	6	9	15	11	3	1	1	1	1	0	0	4	3	2	3	2	4	2	3	2	4	2	2			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr7:131848943G>A	uc003vra.4	-	23	4687	c.4458C>T	c.(4456-4458)agC>agT	p.S1486S		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1486						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCTTGTCCTCGCTCAAGGAGT	0.607													10	62					0	0	1	0	0	A	131848943	G	A	131848943	2	1	112	1	0	0	0	0	0	0	0	1	12122	1078	38	1		1	PLXNA4	7	131848943	Silent	SNP	G	TCGA-DU-A5TP-01A-11D-A289-08	24450185	131848943	27289720	11	5068											
CNOT4	4850	broad.mit.edu	37	chr7	135048807	135048807	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catatttaaactctctacagAactgctgttgtctgggagat	11	14	8	8	0	2	2	0	0	2	2	3	3	2	2	0	1	4	2	0	1	5	5			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr7:135048807A>G	uc011kpy.2	-	10	1970	c.1639T>C	c.(1639-1641)Tct>Cct	p.S547P	CNOT4_uc011kpz.2_Missense_Mutation_p.S544P|CNOT4_uc003vst.3_Intron|CNOT4_uc003vss.3_Intron	NM_001190850	NP_001177779	O95628	CNOT4_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 4 (CNOT4), transcript variant 6, mRNA.	227					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						CTCTCTACAGAACTGCTGTTG	0.388													44	108					0	0	1	0	0	G	135048807	A	G	135048807	3	3	112	1	0	0	0	0	1	0	0	0	3621	261	9	3		3	CNOT4	7	135048807	Missense_Mutation	SNP	A	TCGA-DU-A5TP-01A-11D-A289-08	3199864	135048807	24089856	12	5069											
TAF2	6873	broad.mit.edu	37	chr8	120768315	120768315	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggagactccatgttcttagTaaatggtgggttcttagtca	9	14	12	6	0	3	1	1	0	2	1	4	2	4	1	1	3	0	3	1	3	4	5			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr8:120768315T>G	uc003you.3	-	21	3079	c.2809A>C	c.(2809-2811)Act>Cct	p.T937P		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.	937					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATGTTCTTAGTAAATGGTGGG	0.348													6	57					0	0	1	0	0	G	120768315	T	G	120768315	3	3	112	1	0	0	0	0	1	0	0	0	15521	1638	57	5	810	5	TAF2	8	120768315	Missense_Mutation	SNP	T	TCGA-DU-A5TP-01A-11D-A289-08		120768315	25595707	13	5070											
TNC	3371	broad.mit.edu	37	chr9	117826102	117826102	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacttcaacagagagaggggTtgtgctgaagtcctgagtga	11	9	15	6	0	1	5	1	3	0	2	2	7	2	5	1	2	2	2	1	2	2	2			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr9:117826102T>A	uc004bjj.4	-	11	4145	c.3733A>T	c.(3733-3735)Acc>Tcc	p.T1245S	TNC_uc010mvf.3_Missense_Mutation_p.T1245S|TNC_uc022bmj.1_Intron	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1245	Fibronectin type-III 7.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GAGAGAGGGGTTGTGCTGAAG	0.522													20	98					0	0	1	0	0	A	117826102	T	A	117826102	3	1	112	1	0	0	0	0	1	0	0	0	16267	1725	60	5	2940	5	TNC	9	117826102	Missense_Mutation	SNP	T	TCGA-DU-A5TP-01A-11D-A289-08		117826102	23387329	14	5071											
MPP7	143098	broad.mit.edu	37	chr10	28378749	28378749	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttatcttttctactaagaCgaaaactttttctaaaacca	14	16	2	9	1	4	1	0	0	4	1	4	2	4	1	1	0	3	0	1	0	7	8	rs145943944	byFrequency	TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr10:28378749C>T	uc001iua.1	-	13	1378	c.974G>A	c.(973-975)cGt>cAt	p.R325H	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.R325H|MPP7_uc009xla.2_Missense_Mutation_p.R325H|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	325					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TCTACTAAGACGAAAACTTTT	0.313													10	37					0	0	1	0	0	T	28378749	C	T	28378749	3	4	112	1	0	0	0	0	1	0	0	0	9739	536	19	1	780	1	MPP7	10	28378749	Missense_Mutation	SNP	C	TCGA-DU-A5TP-01A-11D-A289-08		28378749	107155998	15	5072											
PA2G4	5036	broad.mit.edu	37	chr12	56504345	56504345	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaaattactctttcaggcCaaggatgcaggacagagaac	14	9	9	9	0	2	1	1	0	1	1	2	4	2	3	1	3	3	1	1	3	5	3			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr12:56504345C>T	uc001sjm.3	+	8	1130	c.711C>T	c.(709-711)gcC>gcT	p.A237A		NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	Homo sapiens proliferation-associated 2G4, 38kDa (PA2G4), mRNA.	237					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|rRNA processing|regulation of translation	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			TCTTTCAGGCCAAGGATGCAG	0.463													32	41					0	0	1	0	0	T	56504345	C	T	56504345	2	4	112	1	0	0	0	0	0	0	0	1	11361	581	21	3		3	PA2G4	12	56504345	Silent	SNP	C	TCGA-DU-A5TP-01A-11D-A289-08		56504345	77347550	16	5073											
BTBD11	121551	broad.mit.edu	37	chr12	108012060	108012060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccccccttgtgcgccagccGcaacagcaaggccaaactga	10	4	10	17	2	0	1	0	1	0	0	0	1	0	1	6	1	5	2	6	1	3	1			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr12:108012060G>A	uc001tmk.1	+	9	2878	c.2357G>A	c.(2356-2358)cGc>cAc	p.R786H	BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.3_Missense_Mutation_p.R786H|BTBD11_uc001tml.1_Missense_Mutation_p.R323H	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	786						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGCGCCAGCCGCAACAGCAAG	0.597													24	60					0	0	1	0	0	A	108012060	G	A	108012060	3	1	112	1	0	0	0	0	1	0	0	0	1539	1087	38	1	2500	1	BTBD11	12	108012060	Missense_Mutation	SNP	G	TCGA-DU-A5TP-01A-11D-A289-08	51507715	108012060	25839835	17	5074											
MDGA2	161357	broad.mit.edu	37	chr14	47389358	47389358	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atagaattctggagcataggCctttcctgaaaacagaaagt	15	10	9	7	0	1	3	0	1	1	2	2	4	2	4	2	2	2	1	2	2	6	4			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr14:47389358C>A	uc001wwj.4	-	9	2253	c.2095G>T	c.(2095-2097)Gcc>Tcc	p.A699S	MDGA2_uc001wwi.4_Missense_Mutation_p.A401S|MDGA2_uc010ani.3_Missense_Mutation_p.A190S	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	630					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GGAGCATAGGCCTTTCCTGAA	0.368													7	52					8.12818e-05	8.54501e-05	1	1	0	A	47389358	C	A	47389358	3	1	112	1	0	0	0	0	1	0	0	0	9407	739	26	5	1014	5	MDGA2	14	47389358	Missense_Mutation	SNP	C	TCGA-DU-A5TP-01A-11D-A289-08		47389358	59960182	18	5075											
EVL	51466	broad.mit.edu	37	chr14	100551166	100551166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaacaccttcagagtcGttggagtcaagttgcaggat	11	9	11	10	1	2	1	2	0	0	1	3	3	2	3	2	2	3	4	2	2	2	3			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr14:100551166G>A	uc001ygu.3	+	1	241	c.154G>A	c.(154-156)Gtt>Att	p.V52I	EVL_uc001ygt.3_Missense_Mutation_p.V50I|EVL_uc001ygv.2_Missense_Mutation_p.V56I	NM_016337	NP_057421	Q9UI08	EVL_HUMAN	Homo sapiens Enah/Vasp-like (EVL), mRNA.	50	WH1.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	SH3 domain binding|actin binding|profilin binding			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				CTTCAGAGTCGTTGGAGTCAA	0.532													42	45					0	0	1	0	0	A	100551166	G	A	100551166	3	1	112	1	0	0	0	0	1	0	0	0	5291	1145	40	1	160	1	EVL	14	100551166	Missense_Mutation	SNP	G	TCGA-DU-A5TP-01A-11D-A289-08	53161808	100551166	6798374	19	5076											
OCA2	4948	broad.mit.edu	37	chr15	28273113	28273113	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaccagacacctccctgcttAgcaggtatcttcgctcccag	8	9	8	16	1	1	1	0	0	1	1	4	2	3	1	4	1	2	4	4	1	2	3			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr15:28273113A>T	uc001zbh.4	-	3	529	c.419T>A	c.(418-420)cTa>cAa	p.L140Q	OCA2_uc010ayv.3_Missense_Mutation_p.L140Q	NM_000275	NP_000266	Q04671	P_HUMAN	Homo sapiens oculocutaneous albinism II (OCA2), mRNA.	140					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	L-tyrosine transmembrane transporter activity|arsenite transmembrane transporter activity|citrate transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CTCCCTGCTTAGCAGGTATCT	0.552									Oculocutaneous Albinism				13	142					0	0	1	0	0	T	28273113	A	T	28273113	3	4	112	1	0	0	0	0	1	0	0	0	10815	420	15	5	2181	5	OCA2	15	28273113	Missense_Mutation	SNP	A	TCGA-DU-A5TP-01A-11D-A289-08		28273113	74258279	20	5077											
HERC2	8924	broad.mit.edu	37	chr15	28473408	28473408	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagggccagcatgccggaaTtgagcagaaggtcgaggttg	10	7	17	7	2	0	3	0	2	0	1	1	5	0	4	2	4	3	3	2	4	2	2			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr15:28473408T>C	uc001zbj.3	-	34	5526	c.5420A>G	c.(5419-5421)aAt>aGt	p.N1807S		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	1807					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CATGCCGGAATTGAGCAGAAG	0.592													6	62					0	0	1	0	0	C	28473408	T	C	28473408	3	2	112	1	0	0	0	0	1	0	0	0	7058	1493	52	3	9320	3	HERC2	15	28473408	Missense_Mutation	SNP	T	TCGA-DU-A5TP-01A-11D-A289-08	200295	28473408	74057984	21	5078											
FES	2242	broad.mit.edu	37	chr15	91437242	91437242	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcctgggggcctccccCtatcccaacctcagcaatca	8	8	7	18	0	3	0	3	0	0	0	5	0	5	0	6	2	3	1	6	2	3	2			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr15:91437242C>T	uc002bpv.3	+	17	2399	c.2280C>T	c.(2278-2280)ccC>ccT	p.P760P	FES_uc010uqj.2_Silent_p.P632P|FES_uc010uqk.2_Silent_p.P742P|FES_uc002bpx.3_Silent_p.P690P|FES_uc002bpy.3_Silent_p.P702P|FES_uc010bny.3_Silent_p.P619P	NM_002005	NP_001996	P07332	FES_HUMAN	Homo sapiens feline sarcoma oncogene (FES), transcript variant 1, mRNA.	760	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGGCCTCCCCCTATCCCAACC	0.607													175	285					0	0	1	0	0	T	91437242	C	T	91437242	2	4	112	1	0	0	0	0	0	0	0	1	5820	668	24	3		3	FES	15	91437242	Silent	SNP	C	TCGA-DU-A5TP-01A-11D-A289-08	62963834	91437242	11094150	22	5079											
ATF7IP2	80063	broad.mit.edu	37	chr16	10551310	10551310	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtcttctgtgaattatGagccttctaacccttccgaa	12	13	6	10	1	3	2	0	2	3	0	4	3	4	2	3	0	2	0	3	0	6	5			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr16:10551310G>T	uc002czw.3	+	5	1435	c.1276G>T	c.(1276-1278)Gag>Tag	p.E426*	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Nonsense_Mutation_p.E426*|ATF7IP2_uc002czv.3_Nonsense_Mutation_p.E426*|ATF7IP2_uc010uyo.2_Intron|ATF7IP2_uc010uyq.2_Intron	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						TGTGAATTATGAGCCTTCTAA	0.323													12	106					2.80697e-09	3.02858e-09	1	1	0	T	10551310	G	T	10551310	4	4	112	1	0	0	0	0	0	1	0	0	1088	1291	45	5	1294	5	ATF7IP2	16	10551310	Nonsense_Mutation	SNP	G	TCGA-DU-A5TP-01A-11D-A289-08		10551310	79803443	23	5080											
ITGAE	3682	broad.mit.edu	37	chr17	3656701	3656701	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaatgtccacagggcacagCtcagagccaaaataggaccc	14	5	9	13	0	2	1	2	0	0	1	3	2	3	2	3	2	2	2	3	2	4	1			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr17:3656701C>T	uc002fwo.4	-	13	1650	c.1551G>A	c.(1549-1551)gaG>gaA	p.E517E		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	517					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CAGGGCACAGCTCAGAGCCAA	0.582													11	75					0	0	1	0	0	T	3656701	C	T	3656701	2	4	112	1	0	0	0	0	0	0	0	1	7885	796	28	3		3	ITGAE	17	3656701	Silent	SNP	C	TCGA-DU-A5TP-01A-11D-A289-08		3656701	77538509	24	5081											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	5	11	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	0	2	rs28934574		TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr17:7577094G>A	uc002gim.2	-	7	1038	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W|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.	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(805)|p.R282G(57)|p.D281E(28)|p.D281N(26)|p.R282Q(24)|p.D281H(19)|p.R282P(16)|p.R282R(12)|p.D281Y(11)|p.D281G(10)|p.0?(8)|p.R282fs*24(7)|p.D281D(5)|p.D281fs*63(4)|p.D281V(4)|p.D281_R282>EW(4)|p.R282L(3)|p.A276_R283delACPGRDRR(2)|p.R282_E287delRRTEEE(2)|p.C275_R283delCACPGRDRR(2)|p.D281_R282insXX(2)|p.?(2)|p.L265_K305del41(2)|p.R282H(2)|p.R280_D281delRD(2)|p.V272_K292del21(2)|p.R282fs*63(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.S269fs*21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281>AGPY(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)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)			36	6					0	0	1	0	0	A	7577094	G	A	7577094	3	1	112	1	0	0	0	0	1	0	0	0	16378	1115	39	2	442	2	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-DU-A5TP-01A-11D-A289-08	3920393	7577094	73618116	25	5082											
MRPS26	64949	broad.mit.edu	37	chr20	3027057	3027057	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcagaggaaggtgcacgAggcccgagccggggttctgg	7	5	20	9	3	1	1	0	0	1	1	1	4	1	2	2	7	3	3	2	7	1	1			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr20:3027057A>G	uc002whs.3	+	1	291	c.251A>G	c.(250-252)gAg>gGg	p.E84G		NM_030811	NP_110438	Q9BYN8	RT26_HUMAN	Homo sapiens mitochondrial ribosomal protein S26 (MRPS26), nuclear gene encoding mitochondrial protein, mRNA.	84					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				kidney(1)|lung(1)	2						AAGGTGCACGAGGCCCGAGCC	0.701													11	26					0	0	1	0	0	G	3027057	A	G	3027057	3	3	112	1	0	0	0	0	1	0	0	0	9837	304	11	4	257	4	MRPS26	20	3027057	Missense_Mutation	SNP	A	TCGA-DU-A5TP-01A-11D-A289-08		3027057	59998463	26	5083											
EIF1AX	1964	broad.mit.edu	37	chrX	20156713	20156713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagattcattctcattcttaCccctgcgtctgtttttacct	6	18	4	13	1	4	1	2	0	3	1	5	1	4	1	3	0	3	1	3	0	2	7			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chrX:20156713C>T	uc004czt.3	-	1	252	c.44G>A	c.(43-45)gGt>gAt	p.G15D	SCARNA9L_uc010nfp.3_5'Flank	NM_001412	NP_001403	P47813	IF1AX_HUMAN	Homo sapiens eukaryotic translation initiation factor 1A, X-linked (EIF1AX), mRNA.	15						cytosol	translation initiation factor activity	p.R14W(1)		endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CTCATTCTTACCCCTGCGTCT	0.308													22	7					0	0	1	0	0	T	20156713	C	T	20156713	3	4	112	1	0	0	0	0	1	0	0	0	4992	507	18	3	414	3	EIF1AX	23	20156713	Missense_Mutation	SNP	C	TCGA-DU-A5TP-01A-11D-A289-08		20156713	135113847	27	5084											
ATRX	546	broad.mit.edu	37	chrX	76938407	76938407	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccagatgtagaactttttcGtttcctttttcctttatcat	7	20	5	9	1	1	2	1	0	0	2	4	2	3	2	3	0	1	2	3	0	3	8			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chrX:76938407G>A	uc004ecp.4	-	8	2573	c.2341C>T	c.(2341-2343)Cga>Tga	p.R781*	ATRX_uc004ecq.4_Nonsense_Mutation_p.R743*|ATRX_uc004eco.4_Nonsense_Mutation_p.R566*|ATRX_uc004ecr.2_Nonsense_Mutation_p.R713*|ATRX_uc010nlx.1_Nonsense_Mutation_p.R752*|ATRX_uc010nly.1_Nonsense_Mutation_p.R726*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	781					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GAACTTTTTCGTTTCCTTTTT	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						43	13					0	0	1	0	0	A	76938407	G	A	76938407	4	1	112	1	0	0	0	0	0	1	0	0	1208	1153	40	1	5245	1	ATRX	23	76938407	Nonsense_Mutation	SNP	G	TCGA-DU-A5TP-01A-11D-A289-08	56781694	76938407	78332153	28	5085											
TBC1D8B	54885	broad.mit.edu	37	chrX	106083910	106083910	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttcacaggtgctgttaaTgacatggctactaatcctga	11	13	8	9	0	2	2	1	2	1	0	3	2	3	2	1	2	2	3	1	2	3	4			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chrX:106083910T>C	uc004emo.3	+	9	1680	c.1515T>C	c.(1513-1515)aaT>aaC	p.N505N	MORC4_uc004emp.4_Intron|TBC1D8B_uc004emn.3_Silent_p.N505N	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	505	Rab-GAP TBC.					intracellular	Rab GTPase activator activity|calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTGCTGTTAATGACATGGCTA	0.358													25	27					0	0	1	0	0	C	106083910	T	C	106083910	2	2	112	1	0	0	0	0	0	0	0	1	15623	1461	51	3		3	TBC1D8B	23	106083910	Silent	SNP	T	TCGA-DU-A5TP-01A-11D-A289-08	29145503	106083910	49186650	29	5086											
SLC2A5	6518	broad.mit.edu	37	chr1	9099884	9099884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgacgcccgacagctgctggCcgcccatgaggacgatgatg	8	6	14	13	4	0	3	0	3	0	0	0	6	0	4	3	2	2	2	3	2	0	0			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr1:9099884C>T	uc001apo.3	-	6	1152	c.860G>A	c.(859-861)gGc>gAc	p.G287D	SLC2A5_uc010nzy.2_Missense_Mutation_p.G228D|SLC2A5_uc010nzz.2_Missense_Mutation_p.G172D|SLC2A5_uc010oaa.2_Missense_Mutation_p.G243D	NM_003039	NP_003030	P22732	GTR5_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA.	287					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCTGCTGGCCGCCCATGAG	0.721													9	22					0	0	1	0	0	T	9099884	C	T	9099884	3	4	113	1	0	0	0	0	1	0	0	0	14548	739	26	3	669	3	SLC2A5	1	9099884	Missense_Mutation	SNP	C	TCGA-DU-A5TR-01A-11D-A289-08		9099884	240150737	1	5087											
PRAMEF2	65122	broad.mit.edu	37	chr1	12919085	12919085	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgctgatgaagacgcttcAtctggagccattgaaagcat	12	10	10	9	2	2	4	1	3	1	1	3	5	2	5	1	1	2	3	1	1	2	2			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr1:12919085A>G	uc001aum.1	+	1	308	c.221A>G	c.(220-222)cAt>cGt	p.H74R		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	74										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAGACGCTTCATCTGGAGCCA	0.562													23	223					0	0	1	0	0	G	12919085	A	G	12919085	3	3	113	1	0	0	0	0	1	0	0	0	12435	217	8	3	223	3	PRAMEF2	1	12919085	Missense_Mutation	SNP	A	TCGA-DU-A5TR-01A-11D-A289-08	3819201	12919085	236331536	2	5088											
CLCA2	9635	broad.mit.edu	37	chr1	86898153	86898153	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagaaggatgcacctttaTctacaatagcacccaaaatg	17	9	6	9	0	1	1	0	0	1	1	1	2	1	2	2	1	3	2	2	1	9	5			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr1:86898153T>A	uc001dlr.4	+	4	848	c.686T>A	c.(685-687)aTc>aAc	p.I229N		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	Homo sapiens chloride channel accessory 2 (CLCA2), mRNA.	229					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TGCACCTTTATCTACAATAGC	0.378													38	87					0	0	1	0	0	A	86898153	T	A	86898153	3	1	113	1	0	0	0	0	1	0	0	0	3458	1435	50	5	704	5	CLCA2	1	86898153	Missense_Mutation	SNP	T	TCGA-DU-A5TR-01A-11D-A289-08	73979068	86898153	162352468	3	5089											
C2orf50	130813	broad.mit.edu	37	chr2	11273476	11273476	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccatggggagccaccccAcccctgggctccagagaacc	9	3	11	18	0	0	1	0	0	0	1	1	3	1	2	8	3	2	2	8	3	1	0			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr2:11273476A>C	uc010yji.1	+	0	298	c.16A>C	c.(16-18)Acc>Ccc	p.T6P	FLJ33534_uc021vdv.1_5'Flank|FLJ33534_uc002rba.2_5'Flank|C2orf50_uc010yjj.1_Missense_Mutation_p.T6P	NM_182500	NP_872306	Q96LR7	CB050_HUMAN	Homo sapiens chromosome 2 open reading frame 50 (C2orf50), mRNA.	6										breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134)		GAGCCACCCCACCCCTGGGCT	0.637													9	32					0	0	1	0	0	C	11273476	A	C	11273476	3	2	113	1	0	0	0	0	1	0	0	0	2172	159	6	5	18	5	C2orf50	2	11273476	Missense_Mutation	SNP	A	TCGA-DU-A5TR-01A-11D-A289-08		11273476	231925897	4	5090											
C2orf89	129293	broad.mit.edu	37	chr2	85051212	85051212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggccgggacacaaggggaGgcagcgttgagtgccctgag	9	4	18	10	2	0	2	0	2	0	0	0	4	0	4	2	5	2	2	2	5	1	1			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr2:85051212G>A	uc010ysl.2	-	5	1288	c.1199C>T	c.(1198-1200)cCt>cTt	p.P400L	C2orf89_uc002sou.4_Missense_Mutation_p.P351L	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.	400						integral to membrane				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						CACAAGGGGAGGCAGCGTTGA	0.642													9	36					0	0	1	0	0	A	85051212	G	A	85051212	3	1	113	1	0	0	0	0	1	0	0	0	2203	1000	35	3	326	3	C2orf89	2	85051212	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	73777736	85051212	158148161	5	5091											
GPR17	2840	broad.mit.edu	37	chr2	128408985	128408985	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcggcagggcctgcgtgtgGagaagcgcctcaagaccaag	9	5	16	11	3	1	2	1	0	0	2	1	3	1	2	3	3	3	1	3	3	3	0	rs143108762		TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr2:128408985G>A	uc010yzn.2	+	3	1371	c.760G>A	c.(760-762)Gag>Aag	p.E254K	LIMS2_uc002tox.3_Intron|LIMS2_uc010fmb.3_Intron|LIMS2_uc002toy.3_Intron|LIMS2_uc002tpa.3_Intron|LIMS2_uc002toz.3_Intron|LIMS2_uc010yzm.2_Intron|LIMS2_uc002tpb.3_Intron|GPR17_uc002tpc.3_Missense_Mutation_p.E254K|GPR17_uc010yzo.2_Missense_Mutation_p.E226K|GPR17_uc002tpd.3_Missense_Mutation_p.E226K	NM_001161415	NP_001154889	Q13304	GPR17_HUMAN	Homo sapiens G protein-coupled receptor 17 (GPR17), transcript variant 1, mRNA.	254						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CCTGCGTGTGGAGAAGCGCCT	0.622													43	83					0	0	1	0	0	A	128408985	G	A	128408985	3	1	113	1	0	0	0	0	1	0	0	0	6667	1175	41	3	766	3	GPR17	2	128408985	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	43357773	128408985	114790388	6	5092											
TTN	7273	broad.mit.edu	37	chr2	179436446	179436446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggccctggtttgtcaagaaCgataacattaagggtttcaa	13	11	10	7	1	2	1	2	0	0	1	2	2	2	1	1	3	2	2	1	3	5	4			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr2:179436446C>T	uc021vsy.1	-	274	66934	c.66709G>A	c.(66709-66711)Gtt>Att	p.V22237I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V15932I|TTN_uc021vta.1_Missense_Mutation_p.V15865I|TTN_uc021vtb.1_Missense_Mutation_p.V15740I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23164	Fibronectin type-III 61.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTCAAGAACGATAACATTA	0.453													29	77					0	0	1	0	0	T	179436446	C	T	179436446	3	4	113	1	0	0	0	0	1	0	0	0	16732	536	19	1	33714	1	TTN	2	179436446	Missense_Mutation	SNP	C	TCGA-DU-A5TR-01A-11D-A289-08	51027461	179436446	63762927	7	5093											
AOX1	316	broad.mit.edu	37	chr2	201527642	201527642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttcgaatactttgtttatGgagctgcctgttccgaggtt	6	16	10	9	2	0	0	0	0	0	0	2	3	1	1	3	2	3	4	3	2	3	7			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr2:201527642G>A	uc002uvx.3	+	30	3594	c.3493G>A	c.(3493-3495)Gga>Aga	p.G1165R	AOX1_uc010zhf.2_Missense_Mutation_p.G721R|AOX1_uc010fsu.3_Missense_Mutation_p.G531R	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	1165					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CTTTGTTTATGGAGCTGCCTG	0.473													39	41					0	0	1	0	0	A	201527642	G	A	201527642	3	1	113	1	0	0	0	0	1	0	0	0	729	1349	47	3	3615	3	AOX1	2	201527642	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	22091196	201527642	41671731	8	5094											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr2:209113113G>T	uc002vcs.3	-	3	640	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_uc002vct.3_Missense_Mutation_p.R132S|IDH1_uc002vcu.3_Missense_Mutation_p.R132S	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								29	34					1.12875e-08	1.22281e-08	1	1	0	T	209113113	G	T	209113113	3	4	113	1	0	0	0	0	1	0	0	0	7494	1058	37	5	878	5	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	7585471	209113113	34086260	9	5095											
TGFBR2	7048	broad.mit.edu	37	chr3	30729914	30729914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccatttggttccaaggtgCgggagcacccctgtgtcgaa	7	10	12	12	2	0	0	0	0	0	0	3	2	2	1	4	3	2	2	4	3	2	2			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr3:30729914C>T	uc003ceo.3	+	5	1817	c.1435C>T	c.(1435-1437)Cgg>Tgg	p.R479W	TGFBR2_uc003cen.3_Missense_Mutation_p.R504W	NM_003242	NP_003233	P37173	TGFR2_HUMAN	Homo sapiens transforming growth factor, beta receptor II (70/80kDa) (TGFBR2), transcript variant 2, mRNA.	479	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of NK T cell differentiation|positive regulation of T cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of reactive oxygen species metabolic process|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|SMAD binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.R479Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						TTCCAAGGTGCGGGAGCACCC	0.502													28	86					0	0	1	0	0	T	30729914	C	T	30729914	3	4	113	1	0	0	0	0	1	0	0	0	15819	759	27	1	1536	1	TGFBR2	3	30729914	Missense_Mutation	SNP	C	TCGA-DU-A5TR-01A-11D-A289-08		30729914	167292516	10	5096											
RHO	6010	broad.mit.edu	37	chr3	129251555	129251555	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcttcatgaccatcccagcGttctttgccaagagcgccgc	8	10	8	15	3	3	2	1	1	2	1	4	2	4	2	4	0	3	1	4	0	1	3	rs145004306	by1000genomes	TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr3:129251555G>A	uc003emt.3	+	3	971	c.876G>A	c.(874-876)gcG>gcA	p.A292A		NM_000539	NP_000530	P08100	OPSD_HUMAN	Homo sapiens rhodopsin (RHO), mRNA.	292			A -> E (in CSNBAD1).		protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	CCATCCCAGCGTTCTTTGCCA	0.582													26	62					0	0	1	0	0	A	129251555	G	A	129251555	2	1	113	1	0	0	0	0	0	0	0	1	13330	1132	40	1		1	RHO	3	129251555	Silent	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	98521641	129251555	68770875	11	5097											
BCL6	604	broad.mit.edu	37	chr3	187447177	187447180	+	Frame_Shift_Del	DEL	CAGT	CAGT	-																															ctgtgggcgagttgggctggCagtcagatttctgggggctc																										TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr3:187447177_187447180delCAGT	uc003frp.3	-	4	1470_1473	c.1013_1016delACTG	c.(1012-1017)gactgcfs	p.D338fs	LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Frame_Shift_Del_p.D338fs|BCL6_uc010hza.2_Frame_Shift_Del_p.D236fs|BCL6_uc003frq.2_Frame_Shift_Del_p.D338fs	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	338					negative regulation of B cell apoptosis|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GTTGGGCTGGCAGTCAGATTTCTG	0.603			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"								20	352	---	---	---	---						-	187447180	CAGT	-	187447177	7	5	113	1	0	1	0	1	0	0	0	0	1376	710	25	0	1128	0	BCL6	3	187447177	Frame_Shift_Del	DEL	CAGT	TCGA-DU-A5TR-01A-11D-A289-08	58195622	187447177	10575253	12	5098											
TLR1	7096	broad.mit.edu	37	chr4	38799264	38799264	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattgttgcagagacttcaTctgtgtagtcatttcagcta	10	15	8	8	0	4	1	3	0	1	1	4	2	4	1	0	0	2	4	0	0	3	6	rs111596029		TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr4:38799264T>C	uc003gtl.3	-	3	1463	c.1189A>G	c.(1189-1191)Atg>Gtg	p.M397V	TLR1_uc021xnn.1_Missense_Mutation_p.M397V	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	397					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AGAGACTTCATCTGTGTAGTC	0.313													9	14					0	0	1	0	0	C	38799264	T	C	38799264	3	2	113	1	0	0	0	0	1	0	0	0	15946	1435	50	3	1175	3	TLR1	4	38799264	Missense_Mutation	SNP	T	TCGA-DU-A5TR-01A-11D-A289-08		38799264	152355012	13	5099											
CD180	4064	broad.mit.edu	37	chr5	66479020	66479020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatgttaatgctgttggcagCcagattgaggtagattccct	9	13	12	7	0	0	3	0	1	0	2	1	4	1	3	2	2	2	5	2	2	2	5			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr5:66479020C>T	uc003juy.2	-	2	1799	c.1651G>A	c.(1651-1653)Gct>Act	p.A551T		NM_005582	NP_005573	Q99467	CD180_HUMAN	Homo sapiens CD180 molecule (CD180), mRNA.	551					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		CTGTTGGCAGCCAGATTGAGG	0.478													16	34					0	0	1	0	0	T	66479020	C	T	66479020	3	4	113	1	0	0	0	0	1	0	0	0	2972	739	26	3	338	3	CD180	5	66479020	Missense_Mutation	SNP	C	TCGA-DU-A5TR-01A-11D-A289-08		66479020	114436240	14	5100											
CCNB1	891	broad.mit.edu	37	chr5	68467121	68467121	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atactgcctctccaagcccaAtggaaacatctggatgtgcc	11	9	8	13	0	2	0	0	0	2	0	3	2	2	2	4	2	5	0	4	2	4	1			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr5:68467121A>G	uc003jvm.3	+	3	641	c.388A>G	c.(388-390)Atg>Gtg	p.M130V	CCNB1_uc010ixb.3_Missense_Mutation_p.M130V	NM_031966	NP_114172	P14635	CCNB1_HUMAN	Homo sapiens cyclin B1 (CCNB1), mRNA.	130					G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole				large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TCCAAGCCCAATGGAAACATC	0.423													19	48					0	0	1	0	0	G	68467121	A	G	68467121	3	3	113	1	0	0	0	0	1	0	0	0	2911	101	4	3	402	3	CCNB1	5	68467121	Missense_Mutation	SNP	A	TCGA-DU-A5TR-01A-11D-A289-08	1988101	68467121	112448139	15	5101											
ADAMTS2	9509	broad.mit.edu	37	chr5	178581152	178581152	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcccagccgcacctcgTcgccacagcggttgccctgc	4	7	11	19	4	0	0	0	0	0	0	2	0	0	0	5	1	6	3	5	1	0	1			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr5:178581152T>C	uc003mjw.3	-	7	1382	c.1280A>G	c.(1279-1281)gAc>gGc	p.D427G	ADAMTS2_uc011dgm.2_Missense_Mutation_p.D427G	NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	427	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCGCACCTCGTCGCCACAGCG	0.706													4	9					0	0	1	0	0	C	178581152	T	C	178581152	3	2	113	1	0	0	0	0	1	0	0	0	265	1667	58	3	2490	3	ADAMTS2	5	178581152	Missense_Mutation	SNP	T	TCGA-DU-A5TR-01A-11D-A289-08	110114031	178581152	2334108	16	5102											
UTRN	7402	broad.mit.edu	37	chr6	144724310	144724310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taccaaatggataaatgctcGattttcaaaggtaactgaga	16	11	8	6	1	1	1	1	1	0	1	2	4	1	2	1	2	3	2	1	2	6	5			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr6:144724310G>A	uc003qkt.3	+	1	223	c.131G>A	c.(130-132)cGa>cAa	p.R44Q	UTRN_uc010khq.1_Missense_Mutation_p.R44Q	NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	44	Actin-binding.|CH 1.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATAAATGCTCGATTTTCAAAG	0.393													17	17					0	0	1	0	0	A	144724310	G	A	144724310	3	1	113	1	0	0	0	0	1	0	0	0	17100	1058	37	2	137	2	UTRN	6	144724310	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08		144724310	26390757	17	5103											
FIGNL1	63979	broad.mit.edu	37	chr7	50513439	50513439	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtttttatccttctagaaGattcatgctcaccatctccc	8	16	4	13	0	4	2	2	0	2	2	6	2	5	2	3	0	1	2	3	0	3	6			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr7:50513439G>C	uc003tpd.3	-	3	1917	c.1547C>G	c.(1546-1548)tCt>tGt	p.S516C	FIGNL1_uc003tpb.3_Missense_Mutation_p.S405C|FIGNL1_uc003tpc.3_Missense_Mutation_p.S516C|FIGNL1_uc003tpe.3_Missense_Mutation_p.S516C|FIGNL1_uc010kyy.3_Missense_Mutation_p.S516C|FIGNL1_uc022ada.1_Missense_Mutation_p.S516C	NM_022116	NP_071399	Q6PIW4	FIGL1_HUMAN	Homo sapiens fidgetin-like 1 (FIGNL1), transcript variant 2, mRNA.	516					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				CCTTCTAGAAGATTCATGCTC	0.408													38	130					0	0	1	0	0	C	50513439	G	C	50513439	3	2	113	1	0	0	0	0	1	0	0	0	5892	942	33	5	481	5	FIGNL1	7	50513439	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08		50513439	108625224	18	5104											
NSUN5	55695	broad.mit.edu	37	chr7	72717707	72717707	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggaacgtgctcaggcctcgGtggggccaggcaggcagggc	6	4	20	11	2	1	0	1	0	0	0	2	1	1	1	2	8	2	3	2	8	1	0			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr7:72717707G>C	uc003txw.3	-	8	1253	c.1176C>G	c.(1174-1176)caC>caG	p.H392Q	FKBP6_uc003twz.2_Intron|NSUN5_uc011kev.2_Missense_Mutation_p.H392Q|NSUN5_uc003txv.3_Missense_Mutation_p.H392Q|NSUN5_uc003txx.3_Missense_Mutation_p.H354Q	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN	Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 2, mRNA.	392							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				TCAGGCCTCGGTGGGGCCAGG	0.662													16	75					0	0	1	0	0	C	72717707	G	C	72717707	3	2	113	1	0	0	0	0	1	0	0	0	10681	1252	44	5	253	5	NSUN5	7	72717707	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	22204268	72717707	86420956	19	5105											
ASPH	444	broad.mit.edu	37	chr8	62460709	62460709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattcacattgtagagtgagCgttgccagacagatgcaaag	13	9	11	8	1	1	4	1	1	0	3	1	4	1	4	1	0	3	3	1	0	2	4			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr8:62460709C>T	uc003xuj.3	-	20	1954	c.1685G>A	c.(1684-1686)cGc>cAc	p.R562H	ASPH_uc011leg.2_Missense_Mutation_p.R533H	NM_004318	NP_004309	Q12797	ASPH_HUMAN	Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant 1, mRNA.	562					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GTAGAGTGAGCGTTGCCAGAC	0.448													35	58					0	0	1	0	0	T	62460709	C	T	62460709	3	4	113	1	0	0	0	0	1	0	0	0	1053	768	27	1	611	1	ASPH	8	62460709	Missense_Mutation	SNP	C	TCGA-DU-A5TR-01A-11D-A289-08		62460709	83903313	20	5106											
PKHD1L1	93035	broad.mit.edu	37	chr8	110477192	110477192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaaatgccaaaatagtcGgccatcttgatgaactggga	15	10	9	7	1	1	2	0	2	1	0	2	3	1	3	2	2	2	0	2	2	7	3			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr8:110477192G>A	uc003yne.3	+	48	8235	c.8131G>A	c.(8131-8133)Ggc>Agc	p.G2711S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2711					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAAAATAGTCGGCCATCTTGA	0.463										HNSCC(38;0.096)			48	108					0	0	1	0	0	A	110477192	G	A	110477192	3	1	113	1	0	0	0	0	1	0	0	0	11972	1116	39	2	8325	2	PKHD1L1	8	110477192	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	48016483	110477192	35886830	21	5107											
IL33	90865	broad.mit.edu	37	chr9	6253587	6253587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttactatgagtctcaacacCcctcaaatgaatcaggtaat	14	11	6	10	0	3	2	3	2	1	0	4	2	3	2	2	1	2	2	2	1	6	3			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr9:6253587C>T	uc003zjt.3	+	5	583	c.505C>T	c.(505-507)Ccc>Tcc	p.P169S	IL33_uc011lmg.2_Missense_Mutation_p.P127S|IL33_uc011lmh.2_Missense_Mutation_p.P43S|IL33_uc022bdf.1_Missense_Mutation_p.P127S	NM_033439	NP_254274	O95760	IL33_HUMAN	Homo sapiens interleukin 33 (IL33), transcript variant 1, mRNA.	169					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		GTCTCAACACCCCTCAAATGA	0.383													11	33					0	0	1	0	0	T	6253587	C	T	6253587	3	4	113	1	0	0	0	0	1	0	0	0	7693	623	22	3	523	3	IL33	9	6253587	Missense_Mutation	SNP	C	TCGA-DU-A5TR-01A-11D-A289-08		6253587	134959844	22	5108											
FPGS	2356	broad.mit.edu	37	chr9	130575671	130575671	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccagctccctcgtcttcAgctgcatttcacatgccttg	5	13	8	15	1	3	0	2	0	1	0	5	0	4	0	3	0	5	3	3	0	0	3			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr9:130575671A>G	uc004bsg.1	+	14	1602	c.1552A>G	c.(1552-1554)Agc>Ggc	p.S518G	FPGS_uc004bsh.1_Missense_Mutation_p.S335G|FPGS_uc011mal.1_Missense_Mutation_p.S492G|FPGS_uc004bsi.1_Missense_Mutation_p.S468G|AK057719_uc004bsl.1_5'Flank	NM_004957	NP_004948	Q05932	FOLC_HUMAN	Homo sapiens folylpolyglutamate synthase (FPGS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	518					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	CCTCGTCTTCAGCTGCATTTC	0.652													52	118					0	0	1	0	0	G	130575671	A	G	130575671	3	3	113	1	0	0	0	0	1	0	0	0	6036	188	7	4	1610	4	FPGS	9	130575671	Missense_Mutation	SNP	A	TCGA-DU-A5TR-01A-11D-A289-08	124322084	130575671	10637760	23	5109											
NOTCH1	4851	broad.mit.edu	37	chr9	139412326	139412326	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgtgtagccctgcagaCactggcactcgaaggagccc	8	5	13	15	2	0	1	0	0	0	1	1	3	0	2	3	3	3	3	3	3	2	1			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr9:139412326C>G	uc004chz.3	-	7	1319	c.1319G>C	c.(1318-1320)tGt>tCt	p.C440S		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	440	EGF-like 11; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCCCTGCAGACACTGGCACTC	0.657			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			25	68					0	0	1	0	0	G	139412326	C	G	139412326	3	3	113	1	0	0	0	0	1	0	0	0	10547	478	17	5	6456	5	NOTCH1	9	139412326	Missense_Mutation	SNP	C	TCGA-DU-A5TR-01A-11D-A289-08	8836655	139412326	1801105	24	5110											
ATE1	11101	broad.mit.edu	37	chr10	123673408	123673408	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaaattgtaaaggtcggcaCctaggaaagcaaaataaata	19	8	9	5	1	0	1	0	1	0	0	1	2	0	2	1	3	1	3	1	3	10	5			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr10:123673408C>A	uc001lfp.3	-	4	316	c.234_splice	c.e4-1	p.R78_splice	ATE1_uc001lfq.3_Splice_Site_p.R78_splice|ATE1_uc010qtr.2_Intron|ATE1_uc010qts.2_Splice_Site|ATE1_uc010qtt.2_Splice_Site_p.R71_splice|ATE1_uc001lfr.3_Splice_Site|ATE1_uc009xzu.3_Intron	NM_007041	NP_008972	O95260	ATE1_HUMAN	Homo sapiens arginyltransferase 1 (ATE1), transcript variant 2, mRNA.	78					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				AAGGTCGGCACCTAGGAAAGC	0.363													3	35					0.115264	0.117524	1	1	0	A	123673408	C	A	123673408	5	1	113	1	0	0	0	0	0	0	1	0	1078	521	18	5	1491	5	ATE1	10	123673408	Splice_Site	SNP	C	TCGA-DU-A5TR-01A-11D-A289-08		123673408	11861339	25	5111											
OR10A3	26496	broad.mit.edu	37	chr11	7960884	7960884	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacagataggttcaggaggaAcaggtacatgggaacgtgga	14	6	15	6	1	1	1	1	0	0	1	1	5	1	5	0	6	3	2	0	6	4	3			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr11:7960884A>C	uc010rbi.2	-	0	184	c.184T>G	c.(184-186)Ttc>Gtc	p.F62V		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTCAGGAGGAACAGGTACATG	0.453													45	40					0	0	1	0	0	C	7960884	A	C	7960884	3	2	113	1	0	0	0	0	1	0	0	0	10891	43	2	5	763	5	OR10A3	11	7960884	Missense_Mutation	SNP	A	TCGA-DU-A5TR-01A-11D-A289-08		7960884	127045632	26	5112											
AMBRA1	55626	broad.mit.edu	37	chr11	46563768	46563768	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaggagctggggacctgcCaagaggaactagcctcgcca	12	4	13	12	1	0	1	0	0	0	1	1	4	0	4	4	4	4	1	4	4	4	1			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr11:46563768C>T	uc001ncv.2	-	7	1843	c.1529G>A	c.(1528-1530)tGg>tAg	p.W510*	AMBRA1_uc010rgt.1_Nonsense_Mutation_p.W166*|AMBRA1_uc009ylc.1_Nonsense_Mutation_p.W600*|AMBRA1_uc001ncu.1_Nonsense_Mutation_p.W510*|AMBRA1_uc010rgu.1_Nonsense_Mutation_p.W600*|AMBRA1_uc001ncw.2_Nonsense_Mutation_p.W510*|AMBRA1_uc001ncx.2_Nonsense_Mutation_p.W600*	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	528					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GGGGACCTGCCAAGAGGAACT	0.592													18	23					0	0	1	0	0	T	46563768	C	T	46563768	4	4	113	1	0	0	0	0	0	1	0	0	565	595	21	3	2145	3	AMBRA1	11	46563768	Nonsense_Mutation	SNP	C	TCGA-DU-A5TR-01A-11D-A289-08	38602884	46563768	88442748	27	5113											
ATN1	1822	broad.mit.edu	37	chr12	7045025	7045025	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctggatatcatgctcccatgGagccccccacatctcgaatg	9	9	8	15	1	2	0	1	0	1	0	4	3	3	2	4	2	2	1	4	2	2	1			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr12:7045025G>C	uc001qrw.1	+	4	832	c.595G>C	c.(595-597)Gag>Cag	p.E199Q	ATN1_uc001qrx.1_Missense_Mutation_p.E199Q|ATN1_uc001qry.1_Missense_Mutation_p.E198Q	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	199					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TGCTCCCATGGAGCCCCCCAC	0.617													8	160					0	0	1	0	0	C	7045025	G	C	7045025	3	2	113	1	0	0	0	0	1	0	0	0	1111	1175	41	5	609	5	ATN1	12	7045025	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08		7045025	126806870	28	5114											
KIAA0528	9847	broad.mit.edu	37	chr12	22643145	22643145	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agatgcagataaaatgcagaCctcttcactataaaggaaaa	19	8	7	7	0	2	3	1	0	1	3	2	4	2	4	1	1	2	2	1	1	7	4			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr12:22643145C>A	uc010sit.2	-	12	1504	c.1276G>T	c.(1276-1278)Gtc>Ttc	p.V426F	KIAA0528_uc010sir.2_Missense_Mutation_p.V239F|KIAA0528_uc010sis.2_Missense_Mutation_p.V424F|KIAA0528_uc001rfq.3_Missense_Mutation_p.V424F|KIAA0528_uc010siu.2_Missense_Mutation_p.V424F|KIAA0528_uc001rfr.3_Missense_Mutation_p.V415F|KIAA0528_uc009ziy.1_Missense_Mutation_p.V426F	NM_014802	NP_055617	Q86YS7	K0528_HUMAN	Homo sapiens KIAA0528 (KIAA0528), mRNA.	424							protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AAAATGCAGACCTCTTCACTA	0.388													12	32					0.0167234	0.0173923	1	1	0	A	22643145	C	A	22643145	3	1	113	1	0	0	0	0	1	0	0	0	8182	507	18	5	1788	5	KIAA0528	12	22643145	Missense_Mutation	SNP	C	TCGA-DU-A5TR-01A-11D-A289-08	15598120	22643145	111208750	29	5115											
MPHOSPH9	10198	broad.mit.edu	37	chr12	123649912	123649912	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatatttttccctcatcaaGttcttttaaagctctcatga	12	17	3	9	0	4	1	3	1	2	0	6	1	5	1	1	0	1	2	1	0	5	6			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr12:123649912G>C	uc001uel.3	-	13	2356	c.2248C>G	c.(2248-2250)Ctt>Gtt	p.L750V	MPHOSPH9_uc010tal.2_Missense_Mutation_p.L204V|MPHOSPH9_uc010tam.2_Non-coding_Transcript|MPHOSPH9_uc001uem.3_Missense_Mutation_p.L204V	NM_022782	NP_073619	Q99550	MPP9_HUMAN	Homo sapiens M-phase phosphoprotein 9 (MPHOSPH9), mRNA.	750					M phase of mitotic cell cycle	Golgi membrane|centriole		p.E749*(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		CCCTCATCAAGTTCTTTTAAA	0.373													6	80					0	0	1	0	0	C	123649912	G	C	123649912	3	2	113	1	0	0	0	0	1	0	0	0	9728	1029	36	5	875	5	MPHOSPH9	12	123649912	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	101006767	123649912	10201983	30	5116											
KLHL28	54813	broad.mit.edu	37	chr14	45403339	45403339	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttcatgtgggcaggaccaTacccaccaatggcatatatc	11	10	9	11	0	1	0	1	0	0	0	2	1	1	1	3	3	1	3	3	3	4	4			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr14:45403339T>C	uc001wvq.3	-	2	1568	c.1322A>G	c.(1321-1323)tAt>tGt	p.Y441C	KLHL28_uc001wvr.3_Missense_Mutation_p.Y441C	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	Homo sapiens kelch-like 28 (Drosophila) (KLHL28), mRNA.	441										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GGCAGGACCATACCCACCAAT	0.363													20	39					0	0	1	0	0	C	45403339	T	C	45403339	3	2	113	1	0	0	0	0	1	0	0	0	8382	1406	49	3	405	3	KLHL28	14	45403339	Missense_Mutation	SNP	T	TCGA-DU-A5TR-01A-11D-A289-08		45403339	61946201	31	5117											
GANC	2595	broad.mit.edu	37	chr15	42600494	42600494	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcccacaacatgcagaaTcacaccaacttaaaaatact	18	7	4	12	0	1	1	1	0	0	1	2	2	2	2	2	1	4	1	2	1	7	2			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr15:42600494T>C	uc001zpi.3	+	7	1014	c.700T>C	c.(700-702)Tca>Cca	p.S234P	GANC_uc001zph.3_Missense_Mutation_p.S234P	NM_198141	NP_937784	Q8TET4	GANC_HUMAN	Homo sapiens glucosidase, alpha; neutral C (GANC), mRNA.	234					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		ACATGCAGAATCACACCAACT	0.393													52	94					0	0	1	0	0	C	42600494	T	C	42600494	3	2	113	1	0	0	0	0	1	0	0	0	6234	1435	50	3	730	3	GANC	15	42600494	Missense_Mutation	SNP	T	TCGA-DU-A5TR-01A-11D-A289-08		42600494	59930898	32	5118											
NLRP1	22861	broad.mit.edu	37	chr17	5442862	5442862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctggcactaagcacagaggCcaggtcctggcagcagtcag	10	5	14	12	0	1	1	1	0	0	1	2	1	2	1	2	4	2	5	2	4	1	1	rs148522172		TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr17:5442862C>T	uc002gci.3	-	6	3298	c.2743G>A	c.(2743-2745)Gcc>Acc	p.A915T	NLRP1_uc002gcg.1_Missense_Mutation_p.A915T|NLRP1_uc002gch.4_Missense_Mutation_p.A915T|NLRP1_uc002gck.3_Missense_Mutation_p.A915T|NLRP1_uc002gcj.3_Missense_Mutation_p.A915T|NLRP1_uc002gcl.3_Missense_Mutation_p.A915T|NLRP1_uc010clh.3_Missense_Mutation_p.A915T	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	915					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AGCACAGAGGCCAGGTCCTGG	0.612													6	42					0	0	1	0	0	T	5442862	C	T	5442862	3	4	113	1	0	0	0	0	1	0	0	0	10471	739	26	3	1797	3	NLRP1	17	5442862	Missense_Mutation	SNP	C	TCGA-DU-A5TR-01A-11D-A289-08		5442862	75752348	33	5119											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			20	16					0	0	1	0	0	A	7577121	G	A	7577121	3	1	113	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	2134259	7577121	73618089	34	5120											
ABCA10	10349	broad.mit.edu	37	chr17	67189276	67189276	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagatgtcagcctcatccatGaattgggtactgaagaggat	13	10	11	7	0	2	4	2	2	0	2	3	5	3	5	2	2	2	1	2	2	4	2			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr17:67189276G>C	uc010dfa.1	-	15	2634	c.1755C>G	c.(1753-1755)ttC>ttG	p.F585L	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_Missense_Mutation_p.F186L	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	585	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CCTCATCCATGAATTGGGTAC	0.418													23	84					0	0	1	0	0	C	67189276	G	C	67189276	3	2	113	1	0	0	0	0	1	0	0	0	29	1281	45	5	2976	5	ABCA10	17	67189276	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	59612155	67189276	14005934	35	5121											
MEX3D	399664	broad.mit.edu	37	chr19	1556792	1556792	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggagaagtgttcggccgcCgacaggatctcacgcttggc	8	8	14	11	4	1	1	1	0	1	1	3	4	1	2	2	4	0	2	2	4	1	2			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr19:1556792C>T	uc010dsn.3	-	1	726	c.726G>A	c.(724-726)tcG>tcA	p.S242S	MEX3D_uc021uml.1_Silent_p.S242S	NM_203304	NP_976049	Q86XN8	MEX3D_HUMAN	Homo sapiens mex-3 homolog D (C. elegans) (MEX3D), transcript variant 1, mRNA.	242					mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		GTTCGGCCGCCGACAGGATCT	0.682													27	73					0	0	1	0	0	T	1556792	C	T	1556792	2	4	113	1	0	0	0	0	0	0	0	1	9512	639	23	2		2	MEX3D	19	1556792	Silent	SNP	C	TCGA-DU-A5TR-01A-11D-A289-08		1556792	57572191	36	5122											
NWD1	284434	broad.mit.edu	37	chr19	16860397	16860397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcagaccttctgcggacGccaggaactcctggcccggc	7	7	11	16	3	2	1	1	0	1	1	3	3	3	3	4	4	2	0	4	4	1	2	rs143471757	byFrequency	TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr19:16860397G>A	uc002neu.4	+	5	1366	c.944G>A	c.(943-945)cGc>cAc	p.R315H	NWD1_uc002net.4_Missense_Mutation_p.R180H|NWD1_uc002nev.4_Missense_Mutation_p.R109H|NWD1_uc021uqg.1_Missense_Mutation_p.R180H	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	315							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTCTGCGGACGCCAGGAACTC	0.622													31	52					0	0	1	0	0	A	16860397	G	A	16860397	3	1	113	1	0	0	0	0	1	0	0	0	10781	1087	38	1	545	1	NWD1	19	16860397	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	15303605	16860397	42268586	37	5123											
ZNF551	90233	broad.mit.edu	37	chr19	58264700	58264700	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgagacaccttctaagcagAccctttctatacaacaggag	14	8	7	12	1	2	2	0	0	2	2	2	4	2	3	2	1	3	1	2	1	4	5			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr19:58264700A>G	uc002qpx.3	+	2	425	c.202A>G	c.(202-204)Acc>Gcc	p.T68A	ZNF587_uc002qqb.2_Intron|ZNF551_uc002qqa.3_Missense_Mutation_p.T68A	NM_173632	NP_775903	Q7Z340	ZN551_HUMAN	Homo sapiens zinc finger protein 776 (ZNF776), mRNA.	84	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTCTAAGCAGACCCTTTCTAT	0.463													39	93					0	0	1	0	0	G	58264700	A	G	58264700	3	3	113	1	0	0	0	0	1	0	0	0	17980	275	10	3		3	ZNF551	19	58264700	Missense_Mutation	SNP	A	TCGA-DU-A5TR-01A-11D-A289-08	41404303	58264700	864283	38	5124											
ATRX	546	broad.mit.edu	37	chrX	76875911	76875911	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgttaaaataatcctccTccttgatcgtatagaattca	12	15	4	10	1	1	2	1	1	0	1	6	2	5	2	4	0	0	2	4	0	6	6			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chrX:76875911T>C	uc004ecp.4	-	19	5456	c.5224A>G	c.(5224-5226)Agg>Ggg	p.R1742G	ATRX_uc004ecq.4_Missense_Mutation_p.R1704G|ATRX_uc004eco.4_Missense_Mutation_p.R1527G	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1742	Helicase ATP-binding.		R -> K (in ATRX; atypical; patients presents spastic paraplegia at birth).		DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.R1742S(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATAATCCTCCTCCTTGATCGT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						29	8					0	0	1	0	0	C	76875911	T	C	76875911	3	2	113	1	0	0	0	0	1	0	0	0	1208	1550	54	4	2318	4	ATRX	23	76875911	Missense_Mutation	SNP	T	TCGA-DU-A5TR-01A-11D-A289-08		76875911	78394649	39	5125											
KLHL17	339451	broad.mit.edu	37	chr1	897822	897822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagctgggtgaaacacgacGtggacgcccgcaggcagcat	10	5	15	11	4	0	2	0	2	0	0	0	4	0	3	1	3	3	4	1	3	1	0			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:897822G>A	uc001aca.2	+	4	906	c.799G>A	c.(799-801)Gtg>Atg	p.V267M	KLHL17_uc001acb.1_3'UTR|KLHL17_uc010nya.1_3'UTR|KLHL17_uc001acc.2_Non-coding_Transcript|KLHL17_uc010nyb.1_5'UTR	NM_198317	NP_938073	Q6TDP4	KLH17_HUMAN	Homo sapiens kelch-like 17 (Drosophila) (KLHL17), mRNA.	267	BACK.				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GAAACACGACGTGGACGCCCG	0.677													12	74					0	0	1	0	0	A	897822	G	A	897822	3	1	114	1	0	0	0	0	1	0	0	0	8372	1145	40	1	817	1	KLHL17	1	897822	Missense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08		897822	248352799	1	5126											
AP4B1	10717	broad.mit.edu	37	chr1	114443970	114443970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacaattggatcctggtcacGcagcaaactgtataattcat	13	12	7	9	1	2	0	2	0	0	0	3	1	3	1	1	2	3	3	1	2	5	5			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:114443970G>A	uc001eeb.3	-	3	691	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C	AP4B1_uc001eec.3_Intron|AP4B1_uc010owp.2_Missense_Mutation_p.R70C|AP4B1_uc001eed.3_Missense_Mutation_p.R169C|AP4B1_uc001eea.1_5'Flank|AP4B1_uc010owq.2_Intron	NM_001253852	NP_001240781	Q9Y6B7	AP4B1_HUMAN	Homo sapiens adaptor-related protein complex 4, beta 1 subunit (AP4B1), transcript variant 2, mRNA.	169					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTGGTCACGCAGCAAACTG	0.413													14	62					0	0	1	0	0	A	114443970	G	A	114443970	3	1	114	1	0	0	0	0	1	0	0	0	751	1087	38	1	1742	1	AP4B1	1	114443970	Missense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08	113546148	114443970	134806651	2	5127											
SEMA4A	64218	broad.mit.edu	37	chr1	156144932	156144932	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagggtgccccgagccaactGtagtgtctatgagagctgtg	8	9	15	9	1	1	1	0	1	1	1	1	4	1	1	3	1	4	2	3	1	3	2			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:156144932G>T	uc001fnl.3	+	12	1669	c.1490G>T	c.(1489-1491)tGt>tTt	p.C497F	SEMA4A_uc009wrq.3_Missense_Mutation_p.C497F|SEMA4A_uc001fnm.3_Missense_Mutation_p.C497F|SEMA4A_uc001fnn.3_Missense_Mutation_p.C365F|SEMA4A_uc001fno.3_Missense_Mutation_p.C497F	NM_001193301	NP_071762	Q9H3S1	SEM4A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A (SEMA4A), transcript variant 3, mRNA.	497	PSI.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CGAGCCAACTGTAGTGTCTAT	0.602													37	322					7.04047e-22	7.36794e-22	1	1	0	T	156144932	G	T	156144932	3	4	114	1	0	0	0	0	1	0	0	0	14031	1377	48	5	1536	5	SEMA4A	1	156144932	Missense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08	41700962	156144932	93105689	3	5128											
NCSTN	23385	broad.mit.edu	37	chr1	160321849	160321851	+	In_Frame_Del	DEL	TAG	TAG	-																															ttctgttgtacctagctggaTagtcgttcctttttctggaa																										TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:160321849_160321851delTAG	uc001fvx.3	+	7	973_975	c.849_851delTAG	c.(847-852)gatagt>gat	p.S284del	NCSTN_uc001fvy.3_In_Frame_Del_p.S264del|NCSTN_uc010pjf.2_Intron|NCSTN_uc010pjg.2_In_Frame_Del_p.S26del	NM_015331	NP_056146	Q92542	NICA_HUMAN	Homo sapiens nicastrin (NCSTN), mRNA.	284					Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|positive regulation of catalytic activity|protein processing	Golgi apparatus|endoplasmic reticulum|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTAGCTGGATAGTCGTTCCTTT	0.488													23	73	---	---	---	---						-	160321851	TAG	-	160321849	7	5	114	1	0	1	0	1	0	0	0	0	10241	1403	49	0	879	0	NCSTN	1	160321849	In_Frame_Del	DEL	TAG	TCGA-DU-A5TS-01A-11D-A289-08	4176917	160321849	88928772	4	5129											
RFWD2	64326	broad.mit.edu	37	chr1	175957522	175957523	+	Frame_Shift_Del	DEL	CA	CA	-																															agtatggtttccctacattcCacagttttagctgactgtct																										TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:175957522_175957523delCA	uc001gku.1	-	16	2129_2130	c.1873_1874delTG	c.(1873-1875)tggfs	p.W625fs	RFWD2_uc001gkv.1_Frame_Shift_Del_p.W601fs|RFWD2_uc001gkw.1_Frame_Shift_Del_p.W385fs|RFWD2_uc009wwv.2_Frame_Shift_Del_p.W424fs|RFWD2_uc001gkt.1_Frame_Shift_Del_p.W464fs	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN	Homo sapiens ring finger and WD repeat domain 2 (RFWD2), transcript variant 1, mRNA.	625					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCCTACATTCCACAGTTTTAGC	0.391													19	22	---	---	---	---						-	175957523	CA	-	175957522	7	5	114	1	0	1	0	1	0	0	0	0	13260	595	21	0	337	0	RFWD2	1	175957522	Frame_Shift_Del	DEL	CA	TCGA-DU-A5TS-01A-11D-A289-08	15635673	175957522	73293099	5	5130											
HMCN1	83872	broad.mit.edu	37	chr1	185969241	185969241	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacaggcagagagcctggCatttctatcttggaagatgg	10	11	13	7	0	2	3	0	1	2	2	2	5	2	4	1	4	1	2	1	4	2	4			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:185969241C>T	uc001grq.1	+	25	4168	c.3939C>T	c.(3937-3939)ggC>ggT	p.G1313G		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1313	Ig-like C2-type 10.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAGAGCCTGGCATTTCTATCT	0.413													16	37					0	0	1	0	0	T	185969241	C	T	185969241	2	4	114	1	0	0	0	0	0	0	0	1	7220	697	25	3		3	HMCN1	1	185969241	Silent	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08	10011719	185969241	63281380	6	5131											
IL19	29949	broad.mit.edu	37	chr1	207010002	207010005	+	Splice_Site	DEL	GCAG	GCAG	-																															gctgacttcctctcctttctGcaggcatgaagttacagtgt																										TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:207010002_207010005delGCAG	uc001hep.3	+	3	938	c.-1_splice	c.e3-1		IL19_uc001heo.3_Splice_Site_p.G38_splice|IL19_uc010prx.1_5'Flank	NM_013371	NP_037503	Q9UHD0	IL19_HUMAN	Homo sapiens interleukin 19 (IL19), transcript variant 2, mRNA.						apoptosis|immune response|signal transduction	extracellular space	cytokine activity			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			TCTCCTTTCTGCAGGCATGAAGTT	0.51													24	82	---	---	---	---						-	207010005	GCAG	-	207010002	8	5	114	1	0	1	0	1	0	0	1	0	7649	1334	46	0		0	IL19	1	207010002	Splice_Site	DEL	GCAG	TCGA-DU-A5TS-01A-11D-A289-08	21040761	207010002	42240619	7	5132											
PCNXL2	80003	broad.mit.edu	37	chr1	233394931	233394931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcctctttcctttcctttaCcattgatgagagtttctgtg	5	19	6	11	0	2	2	0	2	2	1	5	3	5	2	4	0	1	1	4	0	1	6			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:233394931C>T	uc001hvl.2	-	4	912	c.677G>A	c.(676-678)gGt>gAt	p.G226D	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	226						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CTTTCCTTTACCATTGATGAG	0.507													48	70					0	0	1	0	0	T	233394931	C	T	233394931	3	4	114	1	0	0	0	0	1	0	0	0	11592	507	18	3	5856	3	PCNXL2	1	233394931	Missense_Mutation	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08	26384929	233394931	15855690	8	5133											
DNMT3A	1788	broad.mit.edu	37	chr2	25467457	25467457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacctcacggcccccacagCagatggtgcagtaggactgg	9	5	13	14	1	1	1	1	0	0	1	1	2	1	2	3	4	2	4	3	4	1	1			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr2:25467457C>T	uc002rgc.3	-	13	1876	c.1619G>A	c.(1618-1620)tGc>tAc	p.C540Y	DNMT3A_uc002rgd.3_Missense_Mutation_p.C540Y|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgb.3_Missense_Mutation_p.C351Y	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.	540	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCCCACAGCAGATGGTGCA	0.602			"Mis, F, N, S"		AML								23	31					0	0	1	0	0	T	25467457	C	T	25467457	3	4	114	1	0	0	0	0	1	0	0	0	4676	710	25	3	1159	3	DNMT3A	2	25467457	Missense_Mutation	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08		25467457	217731916	9	5134											
PKP4	8502	broad.mit.edu	37	chr2	159537147	159537147	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccactaaacgaccttcttaTagagcagaacagtacccagg	14	8	7	12	1	1	2	0	0	1	2	2	3	2	2	3	1	4	2	3	1	6	5			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr2:159537147T>C	uc002tzv.3	+	21	3797	c.3537T>C	c.(3535-3537)taT>taC	p.Y1179Y	PKP4_uc002tzw.3_Silent_p.Y1136Y|PKP4_uc002tzx.3_Silent_p.Y836Y|PKP4_uc002uaa.3_Silent_p.Y988Y|AK126351_uc002uab.1_Intron|PKP4_uc002uac.3_Silent_p.Y360Y	NM_003628	NP_003619	Q99569	PKP4_HUMAN	Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.	1179					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GACCTTCTTATAGAGCAGAAC	0.428										HNSCC(62;0.18)			46	79					0	0	1	0	0	C	159537147	T	C	159537147	2	2	114	1	0	0	0	0	0	0	0	1	11987	1413	49	3		3	PKP4	2	159537147	Silent	SNP	T	TCGA-DU-A5TS-01A-11D-A289-08	134069690	159537147	83662226	10	5135											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								19	41					0	0	1	0	0	T	209113112	C	T	209113112	3	4	114	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08	49575965	209113112	34086261	11	5136											
RHBDD1	84236	broad.mit.edu	37	chr2	227729609	227729609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaaaaagactggcagcGtttactgctctctccccttc	9	10	7	15	1	1	1	0	0	1	1	4	1	2	1	3	1	4	4	3	1	3	3			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr2:227729609G>A	uc021vxo.1	+	3	724	c.200G>A	c.(199-201)cGt>cAt	p.R67H	RHBDD1_uc002voi.3_Missense_Mutation_p.R67H|RHBDD1_uc010fxc.3_Missense_Mutation_p.R67H	NM_001167608	NP_115652	Q8TEB9	RHBD1_HUMAN	Homo sapiens rhomboid domain containing 1 (RHBDD1), transcript variant 2, mRNA.	67						integral to membrane	serine-type endopeptidase activity			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		GACTGGCAGCGTTTACTGCTC	0.453													30	72					0	0	1	0	0	A	227729609	G	A	227729609	3	1	114	1	0	0	0	0	1	0	0	0	13316	1145	40	1	202	1	RHBDD1	2	227729609	Missense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08	18616497	227729609	15469764	12	5137											
USP40	55230	broad.mit.edu	37	chr2	234408535	234408535	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaacttaccttgtaggccAgatttcttcagcattaactt	11	15	6	9	0	2	1	1	0	1	1	2	1	2	1	2	1	4	3	2	1	4	8			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr2:234408535A>G	uc010zmr.2	-	20	2673	c.2673T>C	c.(2671-2673)tcT>tcC	p.S891S	USP40_uc010zms.1_5'Flank|USP40_uc002vuo.1_Silent_p.S55S|USP40_uc010zmt.1_Silent_p.S535S	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	Homo sapiens ubiquitin specific peptidase 40 (USP40), mRNA.	879					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CTTGTAGGCCAGATTTCTTCA	0.308													11	17					0	0	1	0	0	G	234408535	A	G	234408535	2	3	114	1	0	0	0	0	0	0	0	1	17069	175	7	4		4	USP40	2	234408535	Silent	SNP	A	TCGA-DU-A5TS-01A-11D-A289-08	6678926	234408535	8790838	13	5138											
STAB1	23166	broad.mit.edu	37	chr3	52539710	52539710	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgccctccatcctggaCggacctgggcccttcacagt	5	8	12	16	1	1	0	1	0	0	0	3	2	3	2	5	4	1	1	5	4	0	1			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr3:52539710C>T	uc003dej.3	+	14	1682	c.1608C>T	c.(1606-1608)gaC>gaT	p.D536D	STAB1_uc003dei.1_Silent_p.D536D	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	536	FAS1 2.				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)		CCATCCTGGACGGACCTGGGC	0.637													19	42					0	0	1	0	0	T	52539710	C	T	52539710	2	4	114	1	0	0	0	0	0	0	0	1	15236	535	19	1		1	STAB1	3	52539710	Silent	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08		52539710	145482720	14	5139											
CD2AP	23607	broad.mit.edu	37	chr6	47575765	47575765	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atacatgctactctccaaagGtgaggtgcattgtggtctaa	11	12	10	8	0	2	1	0	1	2	0	3	1	2	1	1	3	4	2	1	3	4	4			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr6:47575765G>A	uc003oyw.3	+	15	2088	c.1632_splice	c.e15+1	p.K544_splice		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Homo sapiens CD2-associated protein (CD2AP), mRNA.	544					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			CTCTCCAAAGGTGAGGTGCAT	0.383													21	32					0	0	1	0	0	A	47575765	G	A	47575765	5	1	114	1	0	0	0	0	0	0	1	0	2994	1275	44	3	1691	3	CD2AP	6	47575765	Splice_Site	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08		47575765	123539302	15	5140											
KCNV2	169522	broad.mit.edu	37	chr9	2718275	2718275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgacgggctgtgtccgcGccgcttcctggaggagctgg	3	8	17	13	5	0	0	0	0	0	0	3	3	2	2	3	4	1	4	3	4	0	1			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr9:2718275G>A	uc003zho.2	+	0	750	c.536G>A	c.(535-537)cGc>cAc	p.R179H		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	Homo sapiens potassium channel, subfamily V, member 2 (KCNV2), mRNA.	179						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CTGTGTCCGCGCCGCTTCCTG	0.647													18	19					0	0	1	0	0	A	2718275	G	A	2718275	3	1	114	1	0	0	0	0	1	0	0	0	8095	1087	38	1	538	1	KCNV2	9	2718275	Missense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08		2718275	138495156	16	5141											
C9orf86	55684	broad.mit.edu	37	chr9	139726181	139726181	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgttctccgaggaccttcaAttacattctccgggagcttc	7	13	8	13	2	3	0	1	0	2	0	6	3	3	2	3	2	2	2	3	2	2	5			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr9:139726181A>G	uc004cjj.1	+	5	924	c.467A>G	c.(466-468)aAt>aGt	p.N156S	C9orf86_uc004cjm.2_Missense_Mutation_p.N156S|C9orf86_uc004cjh.3_Missense_Mutation_p.N156S|C9orf86_uc004cji.1_Missense_Mutation_p.N156S|C9orf86_uc004cjk.1_Non-coding_Transcript|C9orf86_uc004cjl.1_Non-coding_Transcript|C9orf86_uc010nbs.1_Missense_Mutation_p.N41S	NM_001173988	NP_001167459	Q3YEC7	PARF_HUMAN	Homo sapiens chromosome 9 open reading frame 86 (C9orf86), transcript variant 3, mRNA.	156	Small GTPase-like.				small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding			endometrium(4)|kidney(1)|lung(4)	9	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)		AGGACCTTCAATTACATTCTC	0.622													18	73					0	0	1	0	0	G	139726181	A	G	139726181	3	3	114	1	0	0	0	0	1	0	0	0	2502	101	4	3	489	3	C9orf86	9	139726181	Missense_Mutation	SNP	A	TCGA-DU-A5TS-01A-11D-A289-08	137007906	139726181	1487250	17	5142											
CACNA1B	774	broad.mit.edu	37	chr9	140946556	140946556	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccttctagaggatccaaaggGaaagacatcaataccatcaa	17	7	7	10	0	3	2	2	0	1	2	4	4	4	4	3	2	1	0	3	2	6	3			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr9:140946556G>A	uc004cog.3	+	24	3868	c.3723G>A	c.(3721-3723)ggG>ggA	p.G1241G	CACNA1B_uc022bqn.1_Silent_p.G1241G|CACNA1B_uc011mfd.2_Silent_p.G842G|CACNA1B_uc004coi.3_Silent_p.G455G	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1241					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GATCCAAAGGGAAAGACATCA	0.577													9	17					0	0	1	0	0	A	140946556	G	A	140946556	2	1	114	1	0	0	0	0	0	0	0	1	2539	1161	41	3		3	CACNA1B	9	140946556	Silent	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08	1220375	140946556	266875	18	5143											
PTER	9317	broad.mit.edu	37	chr10	16547111	16547111	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgaactacttcattaccAactcggcccagatattgaca	13	11	5	12	1	1	3	1	2	0	1	2	3	1	3	2	1	5	0	2	1	6	6			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr10:16547111A>G	uc001iog.1	+	4	998	c.791A>G	c.(790-792)cAa>cGa	p.Q264R	PTER_uc001ioh.1_Missense_Mutation_p.Q264R|PTER_uc001ioi.1_Missense_Mutation_p.Q264R|PTER_uc009xjp.1_Intron	NM_030664	NP_109589	Q96BW5	PTER_HUMAN	Homo sapiens phosphotriesterase related (PTER), transcript variant 2, mRNA.	264					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						CTTCATTACCAACTCGGCCCA	0.393													46	66					0	0	1	0	0	G	16547111	A	G	16547111	3	3	114	1	0	0	0	0	1	0	0	0	12739	130	5	3	801	3	PTER	10	16547111	Missense_Mutation	SNP	A	TCGA-DU-A5TS-01A-11D-A289-08		16547111	118987636	19	5144											
ANKRD30A	91074	broad.mit.edu	37	chr10	37508226	37508226	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatactagaggcagaaattGaatcacaccatcctagactg	17	8	7	9	0	1	4	1	1	0	3	2	4	2	4	2	1	1	1	2	1	6	4			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr10:37508226G>T	uc021ppc.1	+	33	3517	c.3418G>T	c.(3418-3420)Gaa>Taa	p.E1140*	ANKRD30A_uc001iza.1_Nonsense_Mutation_p.E1140*	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1196						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GGCAGAAATTGAATCACACCA	0.393													26	64					2.41591e-17	2.41591e-17	1	1	0	T	37508226	G	T	37508226	4	4	114	1	0	0	0	0	0	1	0	0	658	1291	45	5	3552	5	ANKRD30A	10	37508226	Nonsense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08	20961115	37508226	98026521	20	5145											
ANK3	288	broad.mit.edu	37	chr10	61848084	61848084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgataatcctgcagatacGctttttccctaactcttctg	8	15	6	12	2	2	2	0	1	2	1	4	2	4	2	2	0	3	2	2	0	3	6			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr10:61848084G>A	uc001jky.3	-	28	3699	c.3361C>T	c.(3361-3363)Cgt>Tgt	p.R1121C	ANK3_uc001jkw.3_Missense_Mutation_p.R255C|ANK3_uc009xpa.3_Missense_Mutation_p.R255C|ANK3_uc001jkx.3_Missense_Mutation_p.R299C|ANK3_uc010qih.2_Missense_Mutation_p.R1122C|ANK3_uc001jkz.4_Missense_Mutation_p.R1115C|ANK3_uc001jla.1_Missense_Mutation_p.R187C|ANK3_uc001jlb.1_Missense_Mutation_p.R639C	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1121					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTGCAGATACGCTTTTTCCCT	0.398													8	60					0	0	1	0	0	A	61848084	G	A	61848084	3	1	114	1	0	0	0	0	1	0	0	0	622	1087	38	1	10145	1	ANK3	10	61848084	Missense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08	24339858	61848084	73686663	21	5146											
SUFU	51684	broad.mit.edu	37	chr10	104353823	104353823	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatcgatccacacctgcaaGtatgtcttgagtgaggaaaa	14	9	10	8	1	1	3	0	2	1	1	3	5	2	4	2	1	1	2	2	1	4	2			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr10:104353823G>T	uc001kvy.2	+	6	947	c.756_splice	c.e6+1	p.Q252_splice	SUFU_uc001kvw.2_Splice_Site_p.Q252_splice|SUFU_uc001kvx.3_Splice_Site_p.Q252_splice|SUFU_uc009xxe.2_5'Flank|SUFU_uc009xxf.2_5'Flank	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN	Homo sapiens suppressor of fused homolog (Drosophila) (SUFU), transcript variant 1, mRNA.	252					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		ACACCTGCAAGTATGTCTTGA	0.502			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				36	68					1.836e-18	1.87773e-18	1	1	0	T	104353823	G	T	104353823	5	4	114	1	0	0	0	0	0	0	1	0	15367	1043	36	5	779	5	SUFU	10	104353823	Splice_Site	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08	42505739	104353823	31180924	22	5147											
MYO7A	4647	broad.mit.edu	37	chr11	76912498	76912498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctctgctctacagcaggcGaggagtcaggcttcctcagc	8	8	11	14	1	4	0	2	0	2	0	5	2	5	1	2	3	4	3	2	3	1	2			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr11:76912498G>A	uc001oyb.2	+	35	5130	c.4858G>A	c.(4858-4860)Gag>Aag	p.E1620K	MYO7A_uc010rsm.1_Missense_Mutation_p.E1571K|MYO7A_uc001oyc.2_Missense_Mutation_p.E1582K|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Missense_Mutation_p.E792K|MYO7A_uc001oye.2_5'Flank	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1620	SH3.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TACAGCAGGCGAGGAGTCAGG	0.567													8	17					0	0	1	0	0	A	76912498	G	A	76912498	3	1	114	1	0	0	0	0	1	0	0	0	10082	1059	37	2	5030	2	MYO7A	11	76912498	Missense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08		76912498	58094018	23	5148											
NCAPD2	9918	broad.mit.edu	37	chr12	6636155	6636155	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtccacttggagcaggcaGtgagtggagagctctgccgg	7	8	17	9	1	1	2	0	1	1	1	2	4	2	3	2	5	3	3	2	5	0	1			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr12:6636155G>C	uc001qoo.2	+	21	2879	c.2833G>C	c.(2833-2835)Gtg>Ctg	p.V945L	NCAPD2_uc009zen.1_Missense_Mutation_p.V817L|NCAPD2_uc010sfd.1_Missense_Mutation_p.V900L	NM_014865	NP_055680	Q15021	CND1_HUMAN	Homo sapiens non-SMC condensin I complex, subunit D2 (NCAPD2), mRNA.	945					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GGAGCAGGCAGTGAGTGGAGA	0.592													139	113					0	0	1	0	0	C	6636155	G	C	6636155	3	2	114	1	0	0	0	0	1	0	0	0	10205	1029	36	5	2915	5	NCAPD2	12	6636155	Missense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08		6636155	127215740	24	5149											
NAV3	89795	broad.mit.edu	37	chr12	78415595	78415595	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccagtcctacaaagatggActtatcatatagtaagactg	15	11	7	8	0	1	2	1	0	0	2	2	3	2	3	2	1	2	1	2	1	7	6			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr12:78415595A>G	uc001syp.3	+	8	2149	c.1976A>G	c.(1975-1977)gAc>gGc	p.D659G	NAV3_uc001syo.3_Missense_Mutation_p.D659G	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	659						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACAAAGATGGACTTATCATAT	0.418										HNSCC(70;0.22)			39	53					0	0	1	0	0	G	78415595	A	G	78415595	3	3	114	1	0	0	0	0	1	0	0	0	10185	275	10	3	2010	3	NAV3	12	78415595	Missense_Mutation	SNP	A	TCGA-DU-A5TS-01A-11D-A289-08	71779440	78415595	55436300	25	5150											
RASSF9	9182	broad.mit.edu	37	chr12	86199245	86199245	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaactaatgtctccatattAtctcgatcatgagaaactgt	13	14	6	8	1	3	2	1	2	2	1	5	4	3	2	1	0	2	0	1	0	5	3			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr12:86199245A>G	uc001taf.1	-	1	882	c.543T>C	c.(541-543)gaT>gaC	p.D181D		NM_005447	NP_005438	O75901	RASF9_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA.	181					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	p.R180L(1)		endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTCCATATTATCTCGATCAT	0.373													17	104					0	0	1	0	0	G	86199245	A	G	86199245	2	3	114	1	0	0	0	0	0	0	0	1	13093	446	16	3		3	RASSF9	12	86199245	Silent	SNP	A	TCGA-DU-A5TS-01A-11D-A289-08	7783650	86199245	47652650	26	5151											
SETD8	387893	broad.mit.edu	37	chr12	123889487	123889487	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccaccaagcagttctcccgGggtgactttgtggtggaata	8	10	13	10	1	1	1	0	1	1	0	2	2	1	2	3	4	1	2	3	4	3	3			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr12:123889487G>A	uc001uew.3	+	6	756	c.714G>A	c.(712-714)cgG>cgA	p.R238R		NM_020382	NP_065115	Q9NQR1	SETD8_HUMAN	Homo sapiens SET domain containing (lysine methyltransferase) 8 (SETD8), mRNA.	279					cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity	p.R238W(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		AGTTCTCCCGGGGTGACTTTG	0.547													38	55					0	0	1	0	0	A	123889487	G	A	123889487	2	1	114	1	0	0	0	0	0	0	0	1	14137	1219	43	3		3	SETD8	12	123889487	Silent	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08	37690242	123889487	9962408	27	5152											
RXFP2	122042	broad.mit.edu	37	chr13	32360543	32360543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgtctagcaatacgataaCggaactatcacctcaccttt	12	12	5	12	2	4	0	2	0	2	0	4	2	4	1	2	1	4	1	2	1	6	5			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr13:32360543C>T	uc001utt.3	+	11	1024	c.953C>T	c.(952-954)aCg>aTg	p.T318M	RXFP2_uc010aba.3_Missense_Mutation_p.T294M	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	318						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AATACGATAACGGAACTATCA	0.358													19	32					0	0	1	0	0	T	32360543	C	T	32360543	3	4	114	1	0	0	0	0	1	0	0	0	13760	536	19	1	999	1	RXFP2	13	32360543	Missense_Mutation	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08		32360543	82809335	28	5153											
PNP	4860	broad.mit.edu	37	chr14	20940627	20940627	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaatccccaactttcccCgaagtacaggtactggcaag	12	8	9	12	1	0	1	0	1	0	0	2	2	2	1	4	2	3	3	4	2	6	3	rs104894460		TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr14:20940627C>T	uc001vxo.4	+	1	318	c.172C>T	c.(172-174)Cga>Tga	p.R58*	PNP_uc010ahm.2_Nonsense_Mutation_p.R58*|PNP_uc010ahn.3_Nonsense_Mutation_p.R58*|PNP_uc021rns.1_5'Flank	NM_000270	NP_000261	P00491	PNPH_HUMAN	Homo sapiens purine nucleoside phosphorylase (PNP), mRNA.	58					NAD biosynthesis via nicotinamide riboside salvage pathway|immune response|inosine catabolic process|interleukin-2 secretion|nicotinamide riboside catabolic process|positive regulation of T cell proliferation|positive regulation of alpha-beta T cell differentiation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity	p.P57P(1)|p.P57S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10					Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)	CAACTTTCCCCGAAGTACAGG	0.468													16	18					0	0	1	0	0	T	20940627	C	T	20940627	4	4	114	1	0	0	0	0	0	1	0	0	12163	644	23	2	178	2	PNP	14	20940627	Nonsense_Mutation	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08		20940627	86408913	29	5154											
CNGB1	1258	broad.mit.edu	37	chr16	58001075	58001075	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcaggattcggttctGgttccacctccgcctccatc	4	12	7	18	2	2	0	1	0	1	0	8	1	6	1	7	3	0	2	7	3	0	3			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr16:58001075G>T	uc002emt.2	-	1	181	c.116C>A	c.(115-117)cCa>cAa	p.P39Q	CNGB1_uc010cdh.2_Missense_Mutation_p.P39Q|CNGB1_uc002emu.2_Missense_Mutation_p.P39Q	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	39	Glu-rich.				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						ATTCGGTTCTGGTTCCACCTC	0.642													44	64					2.68985e-26	2.88198e-26	1	1	0	T	58001075	G	T	58001075	3	4	114	1	0	0	0	0	1	0	0	0	3600	1348	47	5	3797	5	CNGB1	16	58001075	Missense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08		58001075	32353678	30	5155											
ANKRD11	29123	broad.mit.edu	37	chr16	89357057	89357057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagtccttgacgttgacgtCtgccccctcgctgatgagct	6	11	11	13	3	1	4	0	4	1	0	3	5	2	4	3	0	2	3	3	0	1	2			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr16:89357057C>T	uc002fmx.1	-	5	1038	c.577G>A	c.(577-579)Gac>Aac	p.D193N	ANKRD11_uc002fmy.1_Missense_Mutation_p.D193N|ANKRD11_uc002fnc.1_Missense_Mutation_p.D193N|ANKRD11_uc002fnd.3_Missense_Mutation_p.D159N|ANKRD11_uc002fne.3_Missense_Mutation_p.D159N|ANKRD11_uc002fnb.1_Missense_Mutation_p.D150N	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	193						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		ACGTTGACGTCTGCCCCCTCG	0.652													19	111					0	0	1	0	0	T	89357057	C	T	89357057	3	4	114	1	0	0	0	0	1	0	0	0	639	913	32	3	7446	3	ANKRD11	16	89357057	Missense_Mutation	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08	31355982	89357057	997696	31	5156											
ANKRD11	29123	broad.mit.edu	37	chr16	89357151	89357151	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacgctcgtttctcttgttCactttatctttggtttttga	4	21	6	10	2	3	1	1	1	2	0	5	1	3	1	1	1	0	4	1	1	1	8			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr16:89357151C>T	uc002fmx.1	-	5	944	c.483G>A	c.(481-483)gtG>gtA	p.V161V	ANKRD11_uc002fmy.1_Silent_p.V161V|ANKRD11_uc002fnc.1_Silent_p.V161V|ANKRD11_uc002fnd.3_Silent_p.V127V|ANKRD11_uc002fne.3_Silent_p.V127V|ANKRD11_uc002fnb.1_Silent_p.V118V	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	161						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCTCTTGTTCACTTTATCTT	0.592													19	115					0	0	1	0	0	T	89357151	C	T	89357151	2	4	114	1	0	0	0	0	0	0	0	1	639	813	29	3		3	ANKRD11	16	89357151	Silent	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08	94	89357151	997602	32	5157											
ACLY	47	broad.mit.edu	37	chr17	40065858	40065858	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaagcagcttctgggccttGgcgtccacatcacccacgtc	8	8	9	16	2	2	0	1	0	1	0	4	0	3	0	3	2	2	2	3	2	1	2			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr17:40065858G>A	uc002hyg.3	-	4	604	c.441C>T	c.(439-441)gcC>gcT	p.A147A	ACLY_uc002hyh.3_Silent_p.A147A|ACLY_uc002hyi.3_Silent_p.A201A|ACLY_uc010wfx.2_Silent_p.A201A|ACLY_uc010wfy.2_Intron	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	147					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TCTGGGCCTTGGCGTCCACAT	0.547													10	66					0	0	1	0	0	A	40065858	G	A	40065858	2	1	114	1	0	0	0	0	0	0	0	1	143	1335	47	3		3	ACLY	17	40065858	Silent	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08		40065858	41129352	33	5158											
CASKIN2	57513	broad.mit.edu	37	chr17	73498548	73498548	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgcttggggggcgggggCggggggcctttgcgccgggc	1	5	25	10	5	0	0	0	0	0	0	0	0	0	0	2	10	1	1	2	10	0	2			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr17:73498548C>G	uc002joc.3	-	17	3157	c.2607G>C	c.(2605-2607)ccG>ccC	p.P869P	CASKIN2_uc010wsc.2_Silent_p.P787P	NM_020753	NP_001136115	Q8WXE0	CSKI2_HUMAN	Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.	869	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			ggggcgggggcggggggccTT	0.726													3	3					0	0	1	0	0	G	73498548	C	G	73498548	2	3	114	1	0	0	0	0	0	0	0	1	2667	755	27	5		5	CASKIN2	17	73498548	Silent	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08	33432690	73498548	7696662	34	5159											
DSC1	1823	broad.mit.edu	37	chr18	28739449	28739449	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cctgaagatgagaaggaactCgaagataaactttctgacaa	17	8	9	7	1	1	5	0	3	1	3	2	8	1	6	1	1	2	0	1	1	7	2			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr18:28739449C>G	uc002kwn.3	-	1	369	c.107G>C	c.(106-108)cGa>cCa	p.R36P	DSC1_uc002kwm.3_Missense_Mutation_p.R36P	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	36					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AGAAGGAACTCGAAGATAAAC	0.338													19	23					0	0	1	0	0	G	28739449	C	G	28739449	3	3	114	1	0	0	0	0	1	0	0	0	4765	884	31	5	2677	5	DSC1	18	28739449	Missense_Mutation	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08		28739449	49337799	35	5160											
SCN1B	6324	broad.mit.edu	37	chr19	35524708	35524708	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccagatggagggacagatgGcaggcagtggacaggacagg	12	3	19	7	0	0	2	0	0	0	2	0	6	0	6	1	7	0	2	1	7	0	0			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr19:35524708G>A	uc002nxo.2	+	2	646	c.513G>A	c.(511-513)tgG>tgA	p.W171*	SCN1B_uc002nxp.3_Intron|SCN1B_uc010xsg.2_Intron	NM_199037	NP_950238	Q07699	SCN1B_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, beta (SCN1B), transcript variant b, mRNA.	49					axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGGACAGATGGCAGGCAGTGG	0.647													31	51					0	0	1	0	0	A	35524708	G	A	35524708	4	1	114	1	0	0	0	0	0	1	0	0	13915	1212	42	3	523	3	SCN1B	19	35524708	Nonsense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08		35524708	23604275	36	5161											
NLRP13	126204	broad.mit.edu	37	chr19	56421928	56421928	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgctggcgtctcacacttaCgtcagtttctggactttgca	6	14	9	12	2	3	0	2	0	2	0	4	1	3	1	0	2	3	3	0	2	1	3			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr19:56421928C>T	uc010ygg.2	-	6	2307	c.2282_splice	c.e6+1	p.T761_splice		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	761							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CTCACACTTACGTCAGTTTCT	0.458													17	40					0	0	1	0	0	T	56421928	C	T	56421928	5	4	114	1	0	0	0	0	0	0	1	0	10475	550	19	1	870	1	NLRP13	19	56421928	Splice_Site	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08	20897220	56421928	2707055	37	5162											
LRRC3	81543	broad.mit.edu	37	chr21	45876675	45876675	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggctgtggctgtcttcTgcagcttgcggggccttcag	3	11	16	11	1	3	0	1	0	2	0	3	0	3	0	1	5	3	4	1	5	0	3			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr21:45876675T>C	uc021wjs.1	+	0	148	c.148T>C	c.(148-150)Tgc>Cgc	p.C50R	LRRC3_uc002zfa.3_Missense_Mutation_p.C50R	NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	Homo sapiens leucine rich repeat containing 3 (LRRC3), mRNA.	50	LRRNT.					integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		GGCTGTCTTCTGCAGCTTGCG	0.677													25	39					0	0	1	0	0	C	45876675	T	C	45876675	3	2	114	1	0	0	0	0	1	0	0	0	8984	1580	55	4	150	4	LRRC3	21	45876675	Missense_Mutation	SNP	T	TCGA-DU-A5TS-01A-11D-A289-08		45876675	2253220	38	5163											
ATRX	546	broad.mit.edu	37	chrX	76938084	76938085	+	Frame_Shift_Ins	INS	-	-	A																															ctgtgccttctgctgaagagINSaaagtctctctctcttgttt																										TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chrX:76938084_76938085insA	uc004ecp.4	-	8	2895_2896	c.2663_2664insT	c.(2662-2664)ttcfs	p.F888fs	ATRX_uc004ecq.4_Frame_Shift_Ins_p.F850fs|ATRX_uc004eco.4_Frame_Shift_Ins_p.F673fs|ATRX_uc004ecr.2_Frame_Shift_Ins_p.F820fs|ATRX_uc010nlx.1_Frame_Shift_Ins_p.F859fs|ATRX_uc010nly.1_Frame_Shift_Ins_p.F833fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	888					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTGCTGAAGAGAAAGTCTCTCT	0.421			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						98	50	---	---	---	---						A	76938085	-	A	76938084	7	5	114	1	0	1	1	0	0	0	0	0	1208	933	33	0	4922	0	ATRX	23	76938084	Frame_Shift_Ins	INS	-	TCGA-DU-A5TS-01A-11D-A289-08		76938084	78332476	39	5164											
PLEKHG5	57449	broad.mit.edu	37	chr1	6534096	6534096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgtccaggctctcccggcGgctctgggcgtccacacgct	4	8	13	16	4	2	0	0	0	2	0	5	1	4	0	3	4	0	3	3	4	0	0			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr1:6534096G>A	uc001anp.1	-	7	1297	c.799C>T	c.(799-801)Cgc>Tgc	p.R267C	PLEKHG5_uc001ann.1_Missense_Mutation_p.R227C|PLEKHG5_uc001ano.1_Missense_Mutation_p.R246C|PLEKHG5_uc001anq.1_Missense_Mutation_p.R267C|PLEKHG5_uc001anj.1_5'Flank|PLEKHG5_uc009vma.1_Missense_Mutation_p.R30C|PLEKHG5_uc010nzr.1_Missense_Mutation_p.R259C|PLEKHG5_uc001ank.1_Missense_Mutation_p.R190C|PLEKHG5_uc009vmb.1_Missense_Mutation_p.R190C|PLEKHG5_uc001anl.1_Missense_Mutation_p.R190C|PLEKHG5_uc001anm.1_Missense_Mutation_p.R190C	NM_198681	NP_065682	O94827	PKHG5_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.	246					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CTCTCCCGGCGGCTCTGGGCG	0.701													7	21					0	0	1	0	0	A	6534096	G	A	6534096	3	1	115	1	0	0	0	0	1	0	0	0	12073	1116	39	2	2512	2	PLEKHG5	1	6534096	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08		6534096	242716525	1	5165											
IL22RA1	58985	broad.mit.edu	37	chr1	24463673	24463673	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtggctgaccggcctccCgcactgacagcggtgaccct	5	8	13	15	3	0	3	0	3	0	0	1	3	1	3	4	4	1	2	4	4	0	1			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr1:24463673C>T	uc001biq.2	-	2	506	c.303G>A	c.(301-303)gcG>gcA	p.A101A	IL22RA1_uc010oeg.1_5'UTR|IL22RA1_uc009vrb.2_5'UTR|IL22RA1_uc010oeh.2_Silent_p.A101A	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA.	101	Fibronectin type-III 1.					integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		ACCGGCCTCCCGCACTGACAG	0.612													26	52					0	0	1	0	0	T	24463673	C	T	24463673	2	4	115	1	0	0	0	0	0	0	0	1	7673	639	23	2		2	IL22RA1	1	24463673	Silent	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	17929577	24463673	224786948	2	5166											
PTAFR	5724	broad.mit.edu	37	chr1	28477144	28477144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagagatgccacgcttgcggGtgttggcctgagcagtcttg	7	10	15	9	2	1	2	0	1	1	1	1	3	1	2	2	2	3	3	2	2	1	3			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr1:28477144G>A	uc009vte.3	-	2	724	c.389C>T	c.(388-390)aCc>aTc	p.T130I	PTAFR_uc021ojz.1_Missense_Mutation_p.T130I|PTAFR_uc001bpl.3_Missense_Mutation_p.T130I|PTAFR_uc001bpm.4_Missense_Mutation_p.T130I|PTAFR_uc021oka.1_Missense_Mutation_p.T130I	NM_001164721	NP_001158195	P25105	PTAFR_HUMAN	Homo sapiens platelet-activating factor receptor (PTAFR), transcript variant 1, mRNA.	130					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		ACGCTTGCGGGTGTTGGCCTG	0.557													66	73					0	0	1	0	0	A	28477144	G	A	28477144	3	1	115	1	0	0	0	0	1	0	0	0	12723	1261	44	3	643	3	PTAFR	1	28477144	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08	4013471	28477144	220773477	3	5167											
OR10R2	343406	broad.mit.edu	37	chr1	158449814	158449814	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcagctggccctctttgtAgtttttctttttctgtatct	4	22	6	9	0	5	0	1	0	4	0	5	0	5	0	1	1	1	4	1	1	2	8			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr1:158449814A>G	uc010pik.2	+	0	147	c.147A>G	c.(145-147)gtA>gtG	p.V49V	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CCCTCTTTGTAGTTTTTCTTT	0.448													46	43					0	0	1	0	0	G	158449814	A	G	158449814	2	3	115	1	0	0	0	0	0	0	0	1	10917	407	15	4		4	OR10R2	1	158449814	Silent	SNP	A	TCGA-DU-A5TT-01A-11D-A289-08	129972670	158449814	90800807	4	5168											
FAM129A	116496	broad.mit.edu	37	chr1	184764460	184764460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcctctcctgggagctccCcctccatgggccccaggggc	4	6	13	18	0	1	0	0	0	1	0	4	1	3	1	7	5	1	1	7	5	0	0			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr1:184764460C>T	uc001gra.3	-	13	2632	c.2438G>A	c.(2437-2439)gGg>gAg	p.G813E	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	813	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TGGGAGCTCCCCCTCCATGGG	0.657													31	131					0	0	1	0	0	T	184764460	C	T	184764460	3	4	115	1	0	0	0	0	1	0	0	0	5436	623	22	3	352	3	FAM129A	1	184764460	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	26314646	184764460	64486161	5	5169											
NFASC	23114	broad.mit.edu	37	chr1	204946828	204946828	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgatcaggccactccaacTaaccgtttggctgccctgcc	7	9	9	16	1	1	1	1	1	0	0	2	1	2	1	5	2	4	3	5	2	2	2			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr1:204946828T>A	uc010prc.2	+	15	2081	c.552T>A	c.(550-552)acT>acA	p.T184T	NFASC_uc001hbj.3_Silent_p.T617T|NFASC_uc010pra.2_Intron|NFASC_uc001hbi.3_Intron|NFASC_uc010prb.2_Silent_p.T628T|NFASC_uc001hbk.1_Intron			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	617	Ig-like C2-type 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCACTCCAACTAACCGTTTGG	0.547													17	28					0	0	1	0	0	A	204946828	T	A	204946828	2	1	115	1	0	0	0	0	0	0	0	1	10359	1509	53	5		5	NFASC	1	204946828	Silent	SNP	T	TCGA-DU-A5TT-01A-11D-A289-08	20182368	204946828	44303793	6	5170											
DHX30	22907	broad.mit.edu	37	chr3	47891524	47891524	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttccccccagcgtacaggagGagcacgggcagctgcttgcg	7	6	14	14	3	0	0	0	0	0	0	1	2	1	2	3	3	6	5	3	3	1	3			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr3:47891524G>C	uc003cru.3	+	21	3925	c.3499G>C	c.(3499-3501)Gag>Cag	p.E1167Q	DHX30_uc003crt.3_Missense_Mutation_p.E1128Q	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	1167						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CGTACAGGAGGAGCACGGGCA	0.672											OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	9					0	0	1	0	0	C	47891524	G	C	47891524	3	2	115	1	0	0	0	0	1	0	0	0	4504	1175	41	5	3588	5	DHX30	3	47891524	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08		47891524	150130906	7	5171											
IFRD2	7866	broad.mit.edu	37	chr3	50327154	50327154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccctcacctggatgtcagCggcagccacgtagcagccca	9	5	10	17	2	2	0	2	0	0	0	2	1	2	1	5	2	4	3	5	2	1	1			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr3:50327154C>T	uc003czb.3	-	8	1084	c.1084G>A	c.(1084-1086)Gct>Act	p.A362T	IFRD2_uc011bdp.2_Missense_Mutation_p.A260T	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	Homo sapiens interferon-related developmental regulator 2 (IFRD2), mRNA.	260							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGGATGTCAGCGGCAGCCACG	0.617													4	4					0	0	1	0	0	T	50327154	C	T	50327154	3	4	115	1	0	0	0	0	1	0	0	0	7554	768	27	1	770	1	IFRD2	3	50327154	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	2435630	50327154	147695276	8	5172											
KCNAB1	7881	broad.mit.edu	37	chr3	155838415	155838415	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccacgatgctggcagcccgGacaggggcagcggggagtca	8	4	17	12	3	1	0	1	0	0	0	2	3	2	2	2	6	3	3	2	6	0	0			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr3:155838415G>T	uc003far.2	+	0	79	c.15G>T	c.(13-15)cgG>cgT	p.R5R	KCNAB1_uc011bon.1_Silent_p.R5R	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 1 (KCNAB1), transcript variant 1, mRNA.	5						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TGGCAGCCCGGACAGGGGCAG	0.502													46	117					4.37618e-36	5.10555e-36	1	1	0	T	155838415	G	T	155838415	2	4	115	1	0	0	0	0	0	0	0	1	8009	1161	41	5		5	KCNAB1	3	155838415	Silent	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08	105511261	155838415	42184015	9	5173											
PIK3CA	5290	broad.mit.edu	37	chr3	178916944	178916944	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtaggcaaccgtgaagaaAagatcctcaatcgagaaatt	17	7	9	8	2	1	4	1	1	0	3	3	5	2	4	2	1	1	2	2	1	7	2			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr3:178916944A>G	uc003fjk.3	+	1	488	c.331A>G	c.(331-333)Aag>Gag	p.K111E		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	111					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.K111E(25)|p.K111N(13)|p.E110K(4)|p.K111_L113delKIL(3)|p.K111_I112>N(1)|p.K111R(1)|p.K111del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CCGTGAAGAAAAGATCCTCAA	0.333		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			17	42					0	0	1	0	0	G	178916944	A	G	178916944	3	3	115	1	0	0	0	0	1	0	0	0	11913	15	1	3	333	3	PIK3CA	3	178916944	Missense_Mutation	SNP	A	TCGA-DU-A5TT-01A-11D-A289-08	23078529	178916944	19105486	10	5174											
PIK3CA	5290	broad.mit.edu	37	chr3	178936094	178936094	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctctctgaaatcactgagCaggagaaagattttctatgg	12	12	9	8	0	4	4	1	2	3	2	5	5	4	4	0	2	1	1	0	2	3	3	rs121913286		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr3:178936094C>G	uc003fjk.3	+	9	1793	c.1636C>G	c.(1636-1638)Cag>Gag	p.Q546E		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	546	PI3K helical.		Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(1071)|p.Q546K(183)|p.E545A(96)|p.E545G(79)|p.Q546R(28)|p.Q546E(24)|p.E545D(23)|p.E545Q(21)|p.E545?(19)|p.Q546P(15)|p.Q546L(6)|p.E545V(6)|p.Q546H(5)|p.(542_545)E>K(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATCACTGAGCAGGAGAAAGA	0.358		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			4	21					0	0	1	0	0	G	178936094	C	G	178936094	3	3	115	1	0	0	0	0	1	0	0	0	11913	711	25	5	1670	5	PIK3CA	3	178936094	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	19150	178936094	19086336	11	5175											
LIMCH1	22998	broad.mit.edu	37	chr4	41682066	41682066	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagctgaaagaagagtgggAaaaggcccaaaaggaggtgg	17	3	16	5	0	0	3	0	1	0	2	0	5	0	5	1	5	1	1	1	5	7	0			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr4:41682066A>G	uc003gvz.4	+	23	3980	c.3563A>G	c.(3562-3564)gAa>gGa	p.E1188G	LIMCH1_uc003gwe.4_Missense_Mutation_p.E727G|LIMCH1_uc003gvu.4_Missense_Mutation_p.E804G|LIMCH1_uc003gvv.4_Missense_Mutation_p.E804G|LIMCH1_uc003gvw.4_Missense_Mutation_p.E803G|LIMCH1_uc003gvx.4_Missense_Mutation_p.E816G|LIMCH1_uc003gvy.4_Missense_Mutation_p.E632G|LIMCH1_uc003gwa.4_Missense_Mutation_p.E644G|LIMCH1_uc011byu.2_Missense_Mutation_p.E637G|LIMCH1_uc003gwc.4_Missense_Mutation_p.E649G|LIMCH1_uc003gwd.4_Missense_Mutation_p.E637G|LIMCH1_uc011byv.2_Missense_Mutation_p.E554G|LIMCH1_uc011byw.2_Missense_Mutation_p.E103G	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	804					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GAAGAGTGGGAAAAGGCCCAA	0.448													8	21					0	0	1	0	0	G	41682066	A	G	41682066	3	3	115	1	0	0	0	0	1	0	0	0	8797	246	9	3	2513	3	LIMCH1	4	41682066	Missense_Mutation	SNP	A	TCGA-DU-A5TT-01A-11D-A289-08		41682066	149472210	12	5176											
UGT2B10	7365	broad.mit.edu	37	chr4	69688108	69688108	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcaacagcccttgccaaGatcccacaaaaggtaagata	16	7	7	11	0	0	2	0	0	0	2	1	2	1	2	3	1	4	2	3	1	6	4			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr4:69688108G>T	uc003hee.3	+	2	1012	c.987G>T	c.(985-987)aaG>aaT	p.K329N	UGT2B10_uc011cam.2_Missense_Mutation_p.K245N	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	329					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						CCCTTGCCAAGATCCCACAAA	0.413													38	127					9.14704e-12	1.01634e-11	1	1	0	T	69688108	G	T	69688108	3	4	115	1	0	0	0	0	1	0	0	0	16953	933	33	5	997	5	UGT2B10	4	69688108	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08	28006042	69688108	121466168	13	5177											
TLR2	7097	broad.mit.edu	37	chr4	154625007	154625007	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaacgttaacaatccggagGctgcatattccaaggtttta	13	11	9	8	2	0	0	0	0	0	0	2	2	2	1	2	3	3	4	2	3	6	5			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr4:154625007G>T	uc003inq.3	+	2	1167	c.948G>T	c.(946-948)agG>agT	p.R316S	TLR2_uc003inr.3_Missense_Mutation_p.R316S|TLR2_uc003ins.3_Missense_Mutation_p.R316S|TLR2_uc021xtl.1_Missense_Mutation_p.R316S	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	316					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|induction of apoptosis|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of Wnt receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Toll-like receptor 1-Toll-like receptor 2 protein complex|cytoplasm|integral to plasma membrane	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				CAATCCGGAGGCTGCATATTC	0.338													14	53					2.31682e-05	2.45724e-05	1	1	0	T	154625007	G	T	154625007	3	4	115	1	0	0	0	0	1	0	0	0	15948	1194	42	5	950	5	TLR2	4	154625007	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08	84936899	154625007	36529269	14	5178											
CETN3	1070	broad.mit.edu	37	chr5	89701540	89701540	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaaggtgattttccctgtgGcttctctgtcataatcttta	8	17	7	9	0	3	1	1	1	2	0	5	1	4	1	1	2	0	1	1	2	3	6			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr5:89701540G>T	uc003kjo.3	-	2	355	c.230C>A	c.(229-231)gCc>gAc	p.A77D		NM_004365	NP_004356	O15182	CETN3_HUMAN	Homo sapiens centrin, EF-hand protein, 3 (CETN3), mRNA.	77	EF-hand 2.				cell division|centrosome cycle|mitosis	centriole	calcium ion binding			lung(3)	3		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		TTTCCCTGTGGCTTCTCTGTC	0.343													12	26					6.40141e-05	6.68804e-05	1	1	0	T	89701540	G	T	89701540	3	4	115	1	0	0	0	0	1	0	0	0	3276	1203	42	5	285	5	CETN3	5	89701540	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08		89701540	91213720	15	5179											
KCTD16	57528	broad.mit.edu	37	chr5	143586601	143586601	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaaaaaggaagactgaaaagGgaagctgaatacttccagct	18	6	11	6	0	0	3	0	2	0	1	1	6	1	5	1	2	3	2	1	2	8	2			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr5:143586601G>T	uc003lnm.1	+	2	953	c.324G>T	c.(322-324)agG>agT	p.R108S	KCTD16_uc003lnn.1_Missense_Mutation_p.R108S	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA.	108						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GACTGAAAAGGGAAGCTGAAT	0.468													31	35					2.70662e-09	2.96037e-09	1	1	0	T	143586601	G	T	143586601	3	4	115	1	0	0	0	0	1	0	0	0	8103	1223	43	5	326	5	KCTD16	5	143586601	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08	53885061	143586601	37328659	16	5180											
ABCC10	89845	broad.mit.edu	37	chr6	43403588	43403588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccaaagtgtccttggacCggatccagcttttcctcgac	8	10	10	13	2	0	0	0	0	0	0	4	3	3	2	5	3	1	1	5	3	1	3			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr6:43403588C>T	uc003ouy.1	+	4	1923	c.1708C>T	c.(1708-1710)Cgg>Tgg	p.R570W	ABCC10_uc003ouz.1_Missense_Mutation_p.R527W|ABCC10_uc010jyo.1_5'UTR	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	570						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GTCCTTGGACCGGATCCAGCT	0.567													24	57					0	0	1	0	0	T	43403588	C	T	43403588	3	4	115	1	0	0	0	0	1	0	0	0	50	643	23	2	1589	2	ABCC10	6	43403588	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08		43403588	127711479	17	5181											
MCHR2	84539	broad.mit.edu	37	chr6	100390944	100390944	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ataaaggaagctgcccaaagGcccaaattgatccggatggt	14	7	11	9	1	0	1	0	1	0	0	1	3	1	3	3	4	2	1	3	4	5	2			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr6:100390944G>A	uc003pqh.1	-	3	783	c.468C>T	c.(466-468)ggC>ggT	p.G156G	MCHR2_uc003pqi.1_Silent_p.G156G	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	156						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTGCCCAAAGGCCCAAATTGA	0.468													38	78					0	0	1	0	0	A	100390944	G	A	100390944	2	1	115	1	0	0	0	0	0	0	0	1	9383	1190	42	3		3	MCHR2	6	100390944	Silent	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08	56987356	100390944	70724123	18	5182											
EPB41L2	2037	broad.mit.edu	37	chr6	131188677	131188677	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagatttctgtcctttgTgaggcatcagaaattgttac	9	15	11	6	0	2	3	1	1	1	2	3	4	3	3	1	2	1	2	1	2	2	4	rs145251245		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr6:131188677T>C	uc003qch.2	-	15	2834	c.2652A>G	c.(2650-2652)tcA>tcG	p.S884S	EPB41L2_uc003qce.1_Silent_p.S262S|EPB41L2_uc003qcf.1_Non-coding_Transcript|EPB41L2_uc010kfl.2_Silent_p.S731S|EPB41L2_uc003qcg.1_Silent_p.S626S|EPB41L2_uc003qci.3_Silent_p.S731S|EPB41L2_uc011eby.2_Intron|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc003qcd.1_Silent_p.S45S	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	884	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTGTCCTTTGTGAGGCATCAG	0.408													5	65					0	0	1	0	0	C	131188677	T	C	131188677	2	2	115	1	0	0	0	0	0	0	0	1	5153	1683	59	3		3	EPB41L2	6	131188677	Silent	SNP	T	TCGA-DU-A5TT-01A-11D-A289-08	30797733	131188677	39926390	19	5183											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr7:55221822C>T	uc003tqk.3	+	6	1112	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			59	68					0	0	1	0	0	T	55221822	C	T	55221822	3	4	115	1	0	0	0	0	1	0	0	0	4967	739	26	3	892	3	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08		55221822	103916841	20	5184											
DOCK5	80005	broad.mit.edu	37	chr8	25253106	25253108	+	In_Frame_Del	DEL	CAA	CAA	-																															atcgaaaccatggagctgacCaacgagaggatcagcaactg																										TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr8:25253106_25253108delCAA	uc003xeg.3	+	44	4712_4714	c.4575_4577delCAA	c.(4573-4578)accaac>acc	p.N1526del	DOCK5_uc003xek.3_Intron|DOCK5_uc003xei.3_In_Frame_Del_p.N1096del|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	1526	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TGGAGCTGACCAACGAGAGGATC	0.562													8	107	---	---	---	---						-	25253108	CAA	-	25253106	7	5	115	1	0	1	0	1	0	0	0	0	4690	581	21	0	4753	0	DOCK5	8	25253106	In_Frame_Del	DEL	CAA	TCGA-DU-A5TT-01A-11D-A289-08		25253106	121110916	21	5185											
CREB3	10488	broad.mit.edu	37	chr9	35733420	35733422	+	In_Frame_Del	DEL	GAG	GAG	-																															ctaggctagtactgacagatGaggagaagagtctattggag																										TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr9:35733420_35733422delGAG	uc003zxv.3	+	3	826_828	c.373_375delGAG	c.(373-375)gagdel	p.E126del	TLN1_uc003zxt.2_5'Flank|TLN1_uc003zxu.4_5'Flank|CREB3_uc010mla.3_In_Frame_Del_p.E45del	NM_006368	NP_006359	O43889	CREB3_HUMAN	Homo sapiens cAMP responsive element binding protein 3 (CREB3), mRNA.	150					chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	Golgi apparatus|cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|integral to membrane|nucleus	CCR1 chemokine receptor binding|DNA binding|cAMP response element binding protein binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity	p.E125delE(2)		endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		ACTGACAGATGAGGAGAAGAGTC	0.493													13	23	---	---	---	---						-	35733422	GAG	-	35733420	7	5	115	1	0	1	0	1	0	0	0	0	3855	1291	45	0	387	0	CREB3	9	35733420	In_Frame_Del	DEL	GAG	TCGA-DU-A5TT-01A-11D-A289-08		35733420	105480011	22	5186											
OR13C8	138802	broad.mit.edu	37	chr9	107331778	107331778	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttttgccatgggggccacGgagtgcatgatcttaggcac	7	11	13	10	1	2	1	0	1	2	0	2	2	2	2	2	4	2	2	2	4	1	3			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr9:107331778G>A	uc011lvo.2	+	0	330	c.330G>A	c.(328-330)acG>acA	p.T110T		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	110					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						TGGGGGCCACGGAGTGCATGA	0.502													27	57					0	0	1	0	0	A	107331778	G	A	107331778	2	1	115	1	0	0	0	0	0	0	0	1	10938	1103	39	2		2	OR13C8	9	107331778	Silent	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08	71598358	107331778	33881653	23	5187											
SOHLH1	402381	broad.mit.edu	37	chr9	138590205	138590205	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgactgggccccagggcGctggcaagccgcaggaactg	7	5	15	14	2	0	1	0	1	0	0	1	2	1	2	4	4	2	3	4	4	2	0	rs145506287	byFrequency	TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr9:138590205G>A	uc010nbe.3	-	2	376	c.315C>T	c.(313-315)agC>agT	p.S105S	SOHLH1_uc004cgl.3_Silent_p.S105S	NM_001101677	NP_001095147	Q5JUK2	SOLH1_HUMAN	Homo sapiens spermatogenesis and oogenesis specific basic helix-loop-helix 1 (SOHLH1), transcript variant 1, mRNA.	105	Helix-loop-helix motif.				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		GCCCCAGGGCGCTGGCAAGCC	0.657													92	89					0	0	1	0	0	A	138590205	G	A	138590205	2	1	115	1	0	0	0	0	0	0	0	1	14923	1078	38	1		1	SOHLH1	9	138590205	Silent	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08	31258427	138590205	2623226	24	5188											
AKR1C3	8644	broad.mit.edu	37	chr10	5008161	5008161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaattgaagctggcttccGccatattgattctgctcatt	8	14	9	10	1	2	2	1	2	1	0	3	2	3	2	2	2	2	4	2	2	3	6	rs1138575		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr10:5008161G>A	uc001iho.3	+	6	981	c.140G>A	c.(139-141)cGc>cAc	p.R47H	AKR1C3_uc001ihr.3_Missense_Mutation_p.R47H|AKR1C3_uc009xhx.2_Missense_Mutation_p.R47H|AKR1C3_uc001ihq.3_Missense_Mutation_p.R47H	NM_001353	NP_001344	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase) (AKR1C1), mRNA.	47					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	p.R47C(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	GCTGGCTTCCGCCATATTGAT	0.438													21	48					0	0	1	0	0	A	5008161	G	A	5008161	3	1	115	1	0	0	0	0	1	0	0	0	471	1087	38	1		1	AKR1C3	10	5008161	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08		5008161	130526586	25	5189											
SIGIRR	59307	broad.mit.edu	37	chr11	406533	406533	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctttccaaaaatcggaggaAggagtctgggggccaggtcg	10	8	15	8	2	2	0	0	0	2	0	5	3	3	3	2	6	0	0	2	6	3	1			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr11:406533A>G	uc001lpg.3	-	7	1038	c.885T>C	c.(883-885)ccT>ccC	p.P295P	SIGIRR_uc001lpd.2_Silent_p.P295P|SIGIRR_uc001lpf.2_Silent_p.P295P|SIGIRR_uc001lpe.1_Silent_p.P295P			Q6IA17	SIGIR_HUMAN	Homo sapiens single immunoglobulin and toll-interleukin 1 receptor (TIR) domain (SIGIRR), transcript variant 3, mRNA.	295	TIR.				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AATCGGAGGAAGGAGTCTGGG	0.652													38	64					0	0	1	0	0	G	406533	A	G	406533	2	3	115	1	0	0	0	0	0	0	0	1	14304	59	3	4		4	SIGIRR	11	406533	Silent	SNP	A	TCGA-DU-A5TT-01A-11D-A289-08		406533	134599983	26	5190											
CD163L1	283316	broad.mit.edu	37	chr12	7586119	7586119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagtcacggcttgtccaaaaCgaaacatggcgaaagaaaat	17	7	9	8	3	1	1	1	0	0	1	2	3	2	1	1	2	2	1	1	2	7	2	rs146684411	byFrequency	TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr12:7586119C>T	uc010sge.2	-	2	322	c.296G>A	c.(295-297)cGt>cAt	p.R99H	CD163L1_uc001qsy.3_Missense_Mutation_p.R99H	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	99	SRCR 1.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.R99H(2)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TTGTCCAAAACGAAACATGGC	0.478													13	65					0	0	1	0	0	T	7586119	C	T	7586119	3	4	115	1	0	0	0	0	1	0	0	0	2968	536	19	1	4133	1	CD163L1	12	7586119	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08		7586119	126265776	27	5191											
CLEC9A	283420	broad.mit.edu	37	chr12	10205329	10205329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctctcttcagtgggatagcCcagcaccagacacttaccag	10	8	8	15	0	2	1	1	0	1	1	3	2	2	2	4	1	3	1	4	1	2	3			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr12:10205329C>T	uc001qxa.3	+	3	656	c.43C>T	c.(43-45)Cca>Tca	p.P15S		NM_207345	NP_997228	Q6UXN8	CLC9A_HUMAN	Homo sapiens C-type lectin domain family 9, member A (CLEC9A), mRNA.	15					positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding	p.S14R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						GTGGGATAGCCCAGCACCAGA	0.418													11	49					0	0	1	0	0	T	10205329	C	T	10205329	3	4	115	1	0	0	0	0	1	0	0	0	3522	623	22	3	45	3	CLEC9A	12	10205329	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	2619210	10205329	123646566	28	5192											
PDZRN4	29951	broad.mit.edu	37	chr12	41900316	41900316	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcagtggaagcttttcgcaAtgccaaggagcccattgtgg	9	9	14	9	1	0	0	0	0	0	0	1	2	0	2	2	4	3	3	2	4	3	3			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr12:41900316A>G	uc010skn.2	+	3	910	c.902A>G	c.(901-903)aAt>aGt	p.N301S	PDZRN4_uc001rmq.4_Missense_Mutation_p.N43S|PDZRN4_uc009zjz.3_Missense_Mutation_p.N41S	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	301	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GCTTTTCGCAATGCCAAGGAG	0.473													10	48					0	0	1	0	0	G	41900316	A	G	41900316	3	3	115	1	0	0	0	0	1	0	0	0	11710	101	4	3	989	3	PDZRN4	12	41900316	Missense_Mutation	SNP	A	TCGA-DU-A5TT-01A-11D-A289-08	31694987	41900316	91951579	29	5193											
PDZRN4	29951	broad.mit.edu	37	chr12	41900459	41900459	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatcatggctctggccaagCttcgtccacctacccctcca	8	9	6	18	1	2	0	1	0	1	0	5	0	4	0	6	2	2	2	6	2	2	2			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr12:41900459C>G	uc010skn.2	+	3	1053	c.1045C>G	c.(1045-1047)Ctt>Gtt	p.L349V	PDZRN4_uc001rmq.4_Missense_Mutation_p.L91V|PDZRN4_uc009zjz.3_Missense_Mutation_p.L89V|PDZRN4_uc001rmr.3_5'Flank	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	349							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TCTGGCCAAGCTTCGTCCACC	0.488													11	61					0	0	1	0	0	G	41900459	C	G	41900459	3	3	115	1	0	0	0	0	1	0	0	0	11710	797	28	5	1132	5	PDZRN4	12	41900459	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	143	41900459	91951436	30	5194											
BBS10	79738	broad.mit.edu	37	chr12	76741233	76741233	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttcccactcttccacaaaAgtatgcttctaagagcaact	12	12	4	13	0	3	1	0	0	3	1	5	1	5	1	2	0	3	3	2	0	5	5			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr12:76741233A>T	uc001syd.1	-	1	616	c.532T>A	c.(532-534)Ttt>Att	p.F178I		NM_024685	NP_078961	Q8TAM1	BBS10_HUMAN	Homo sapiens Bardet-Biedl syndrome 10 (BBS10), mRNA.	178					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						CTTCCACAAAAGTATGCTTCT	0.353									Bardet-Biedl syndrome				9	28					0	0	1	0	0	T	76741233	A	T	76741233	3	4	115	1	0	0	0	0	1	0	0	0	1336	72	3	5	1643	5	BBS10	12	76741233	Missense_Mutation	SNP	A	TCGA-DU-A5TT-01A-11D-A289-08	34840774	76741233	57110662	31	5195											
NAV3	89795	broad.mit.edu	37	chr12	78444669	78444669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgtccgcgacttcaggCgggagatgctccctccctgg	5	8	14	14	3	1	1	1	0	0	1	4	3	4	1	3	4	1	2	3	4	0	1			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr12:78444669C>T	uc001syp.3	+	10	2431	c.2258C>T	c.(2257-2259)gCg>gTg	p.A753V	NAV3_uc001syo.3_Missense_Mutation_p.A753V|NAV3_uc010sub.2_Missense_Mutation_p.A253V	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	753						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CGACTTCAGGCGGGAGATGCT	0.572										HNSCC(70;0.22)			24	32					0	0	1	0	0	T	78444669	C	T	78444669	3	4	115	1	0	0	0	0	1	0	0	0	10185	768	27	1	2300	1	NAV3	12	78444669	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	1703436	78444669	55407226	32	5196											
MGAT4C	25834	broad.mit.edu	37	chr12	86374058	86374058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcctggaccatggcatcaCgccaggaagaattaaagtct	13	9	9	10	1	2	1	1	0	1	1	3	3	3	3	3	3	0	1	3	3	5	2			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr12:86374058C>T	uc010sum.2	-	5	677	c.518G>A	c.(517-519)cGt>cAt	p.R173H	MGAT4C_uc001tal.4_Missense_Mutation_p.R149H|MGAT4C_uc001taj.4_Missense_Mutation_p.R149H|MGAT4C_uc001tak.4_Missense_Mutation_p.R149H|MGAT4C_uc001tai.4_Missense_Mutation_p.R149H|MGAT4C_uc001tah.4_Missense_Mutation_p.R149H	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	149					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.R149H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CATGGCATCACGCCAGGAAGA	0.398													24	71					0	0	1	0	0	T	86374058	C	T	86374058	3	4	115	1	0	0	0	0	1	0	0	0	9547	536	19	1	994	1	MGAT4C	12	86374058	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	7929389	86374058	47477837	33	5197											
MIA2	117153	broad.mit.edu	37	chr14	39722040	39722040	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagatagtgatgaaaattcGaaaccatcagtagacaccga	19	7	8	7	2	1	4	1	2	0	2	2	6	1	4	2	0	1	1	2	0	6	3			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr14:39722040G>A	uc001wux.3	+	4	1850	c.1656G>A	c.(1654-1656)tcG>tcA	p.S552S		NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	161						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		ATGAAAATTCGAAACCATCAG	0.378													8	32					0	0	1	0	0	A	39722040	G	A	39722040	2	1	115	1	0	0	0	0	0	0	0	1	9564	1045	37	2		2	MIA2	14	39722040	Silent	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08		39722040	67627500	34	5198											
SNRPN	6638	broad.mit.edu	37	chr15	25213099	25213099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcagttgtacccgaggcGttctcagcagcagcaagtac	9	9	12	11	2	2	0	2	0	1	0	3	1	2	0	1	1	5	7	1	1	3	4	rs142583293		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr15:25213099G>A	uc001ywu.3	+	2	257	c.131G>A	c.(130-132)cGt>cAt	p.R44H	SNRPN_uc001ywp.1_5'UTR|SNRPN_uc001ywq.1_5'UTR|SNRPN_uc001ywr.1_5'UTR|SNRPN_uc001yws.1_Intron|SNRPN_uc001ywt.1_5'UTR|SNRPN_uc001ywy.1_5'UTR|SNRPN_uc001ywz.1_Intron|SNRPN_uc001yxa.1_Non-coding_Transcript|SNRPN_uc021sga.1_5'UTR	NM_022804	NP_073715	P63162	RSMN_HUMAN	Homo sapiens SNRPN upstream reading frame (SNURF), transcript variant 2, mRNA.	0				Missing (in Ref. 8).	RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TACCCGAGGCGTTCTCAGCAG	0.413									Prader-Willi syndrome				32	67					0	0	1	0	0	A	25213099	G	A	25213099	3	1	115	1	0	0	0	0	1	0	0	0	14870	1145	40	1		1	SNRPN	15	25213099	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08		25213099	77318293	35	5199											
MAN2C1	4123	broad.mit.edu	37	chr15	75655059	75655059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagctccgggcacatttcCtcacagtctctttgaagggc	7	10	9	15	1	2	1	1	1	1	0	5	1	4	1	3	2	1	2	3	2	1	2			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr15:75655059C>T	uc002bah.3	-	6	838	c.821G>A	c.(820-822)aGg>aAg	p.R274K	MAN2C1_uc010bkk.3_Intron|MAN2C1_uc002baf.3_Missense_Mutation_p.R274K|MAN2C1_uc002bag.3_Missense_Mutation_p.R274K|MAN2C1_uc010umi.1_Missense_Mutation_p.R56K|MAN2C1_uc010umj.1_Non-coding_Transcript			Q9NTJ4	MA2C1_HUMAN	Homo sapiens mannosidase, alpha, class 2C, member 1 (MAN2C1), mRNA.	274					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding	p.V273V(1)		central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GGCACATTTCCTCACAGTCTC	0.617													11	25					0	0	1	0	0	T	75655059	C	T	75655059	3	4	115	1	0	0	0	0	1	0	0	0	9218	681	24	3	2381	3	MAN2C1	15	75655059	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	50441960	75655059	26876333	36	5200											
ITGAX	3687	broad.mit.edu	37	chr16	31391362	31391362	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcatctgacttcctggcGcacattcagaagaatcccgt	10	9	8	14	2	2	3	1	1	1	2	4	3	4	3	3	1	1	2	3	1	2	2	rs148941060		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr16:31391362G>A	uc002ebt.3	+	25	3103	c.3036G>A	c.(3034-3036)gcG>gcA	p.A1012A	ITGAX_uc002ebu.1_Silent_p.A1012A	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	1012					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						ACTTCCTGGCGCACATTCAGA	0.547													9	39					0	0	1	0	0	A	31391362	G	A	31391362	2	1	115	1	0	0	0	0	0	0	0	1	7889	1074	38	1		1	ITGAX	16	31391362	Silent	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08		31391362	58963391	37	5201											
PHKB	5257	broad.mit.edu	37	chr16	47694709	47694709	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaggacaaacccacccaCgaaattcttcaaaaactgaa	18	6	6	11	1	2	1	1	1	1	0	2	4	2	3	2	2	2	0	2	2	6	2	rs17853186		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr16:47694709C>T	uc002eev.4	+	21	2227	c.2175C>T	c.(2173-2175)caC>caT	p.H725H	PHKB_uc002eeu.4_Silent_p.H718H	NM_000293	NP_000284	Q93100	KPBB_HUMAN	Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.	725					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				AACCCACCCACGAAATTCTTC	0.478													27	69					0	0	1	0	0	T	47694709	C	T	47694709	2	4	115	1	0	0	0	0	0	0	0	1	11845	535	19	1		1	PHKB	16	47694709	Silent	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	16303347	47694709	42660044	38	5202											
TP53	7157	broad.mit.edu	37	chr17	7578539	7578555	+	Splice_Site	DEL	TGAGGGCAGGGGAGTAC	TGAGGGCAGGGGAGTAC	-																															cagttggcaaaacatcttgtTgagggcaggggagtactgta																								rs137852792		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr17:7578539_7578555delTGAGGGCAGGGGAGTAC	uc002gim.2	-	5	570	c.376_splice	c.e5-1	p.Y126_splice	TP53_uc002gig.1_Splice_Site_p.Y126_splice|TP53_uc002gih.3_Splice_Site_p.Y126_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Splice_Site_p.Y126_splice|TP53_uc010cnh.1_Splice_Site_p.Y126_splice|TP53_uc002gij.2_Splice_Site_p.Y126_splice|TP53_uc010cnj.1_Splice_Site|TP53_uc002gin.2_Splice_Site_p.Y33_splice|TP53_uc002gio.2_Splice_Site|TP53_uc010vug.2_Splice_Site_p.Y87_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	126	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(39)|p.S127F(23)|p.L130F(16)|p.Y126*(14)|p.L130V(11)|p.Y126D(9)|p.S127Y(8)|p.N131del(8)|p.N131Y(8)|p.0?(8)|p.L130R(7)|p.S127C(7)|p.P128S(7)|p.S127T(6)|p.S127P(6)|p.Y126_K132delYSPALNK(6)|p.Y126N(6)|p.P128fs*42(5)|p.L130L(4)|p.Y126C(4)|p.L130H(3)|p.L37F(3)|p.Y126_S127insQPHH(3)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.P128L(3)|p.A129fs*41(3)|p.Y33*(2)|p.L130fs*19(2)|p.S34C(2)|p.N131H(2)|p.N131fs*27(2)|p.N131fs*39(2)|p.Y126S(2)|p.Y126fs*44(2)|p.A129V(2)|p.A129T(2)|p.Y33D(2)|p.L130fs*41(2)|p.Y126fs*11(1)|p.S127S(1)|p.S127_Q136del10(1)|p.A129_L130insXX(1)|p.A129_N131delALN(1)|p.T125_Y126insX(1)|p.Y126Y(1)|p.L130P(1)|p.V73fs*9(1)|p.S127fs*43(1)|p.Y126fs*18(1)|p.L130fs*39(1)|p.L130fs*16(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.A129del(1)|p.S34F(1)|p.A36fs*41(1)|p.A129G(1)|p.A129D(1)|p.A36fs*20(1)|p.S34P(1)|p.S127fs*22(1)|p.P13fs*18(1)|p.L130fs*40(1)|p.S127fs*42(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.L130del(1)|p.P128A(1)|p.Y33_S34insQPHH(1)|p.P128del(1)|p.P128P(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)		AACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGA	0.548		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)			14	23	---	---	---	---						-	7578555	TGAGGGCAGGGGAGTAC	-	7578539	8	5	115	1	0	1	0	1	0	0	1	0	16378	1812	63	0	907	0	TP53	17	7578539	Splice_Site	DEL	TGAGGGCAGGGGAGTAC	TCGA-DU-A5TT-01A-11D-A289-08		7578539	73616671	39	5203											
MYO15A	51168	broad.mit.edu	37	chr17	18023395	18023395	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccacaacccgtatgcccaCgccatggatgacatcgccga	10	5	8	18	4	0	1	0	1	0	0	1	3	0	2	6	1	2	1	6	1	2	1			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr17:18023395C>T	uc021trm.1	+	0	1500	c.1281C>T	c.(1279-1281)caC>caT	p.H427H	MYO15A_uc021trl.1_Silent_p.H427H	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	427	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGTATGCCCACGCCATGGATG	0.667													15	56					0	0	1	0	0	T	18023395	C	T	18023395	2	4	115	1	0	0	0	0	0	0	0	1	10063	535	19	1		1	MYO15A	17	18023395	Silent	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	10444856	18023395	63171815	40	5204											
STAT3	6774	broad.mit.edu	37	chr17	40500443	40500443	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaggggccagaaactgcCgcagctccattgggaagctg	10	6	13	12	1	0	1	0	0	0	1	2	2	2	2	4	3	4	3	4	3	3	1			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr17:40500443C>T	uc002hzl.1	-	1	332	c.92G>A	c.(91-93)cGg>cAg	p.R31Q	STAT3_uc002hzk.1_Missense_Mutation_p.R31Q|STAT3_uc002hzm.1_Missense_Mutation_p.R31Q|STAT3_uc010wgh.1_Intron|STAT3_uc002hzn.1_Missense_Mutation_p.R31Q	NM_139276	NP_644805	P40763	STAT3_HUMAN	Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA.	31					JAK-STAT cascade involved in growth hormone signaling pathway|cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CAGAAACTGCCGCAGCTCCAT	0.483									Hyperimmunoglobulin E Recurrent Infection Syndrome				27	49					0	0	1	0	0	T	40500443	C	T	40500443	3	4	115	1	0	0	0	0	1	0	0	0	15265	652	23	2	2312	2	STAT3	17	40500443	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	22477048	40500443	40694767	41	5205											
EMR1	2015	broad.mit.edu	37	chr19	6937659	6937659	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgccatccgcttccaagacGgtgagagactgcatgctccc	9	8	10	14	2	0	3	0	1	0	2	3	4	3	3	4	1	3	3	4	1	1	1			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:6937659G>A	uc002mfw.3	+	20	2693	c.2655_splice	c.e20+1	p.T885_splice	EMR1_uc010dvc.3_Splice_Site_p.T820_splice|EMR1_uc010dvb.3_Splice_Site_p.T866_splice|EMR1_uc010xji.2_Splice_Site_p.T744_splice|EMR1_uc010xjj.2_Splice_Site_p.T708_splice	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	885					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CTTCCAAGACGGTGAGAGACT	0.582													32	70					0	0	1	0	0	A	6937659	G	A	6937659	5	1	115	1	0	0	0	0	0	0	1	0	5104	1130	39	2	2733	2	EMR1	19	6937659	Splice_Site	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08		6937659	52191324	42	5206											
CD209	30835	broad.mit.edu	37	chr19	7811372	7811372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggagcccagccaagagcGtgaaggagaggagttgcagc	13	3	16	9	1	0	3	0	1	0	2	0	6	0	5	2	3	5	2	2	3	3	1	rs151250046		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:7811372G>A	uc002mht.2	-	2	219	c.152C>T	c.(151-153)aCg>aTg	p.T51M	CD209_uc010xju.1_Missense_Mutation_p.T51M|CD209_uc010dvp.2_Intron|CD209_uc002mhr.2_Intron|CD209_uc002mhs.2_Intron|CD209_uc002mhu.2_Missense_Mutation_p.T51M|CD209_uc010dvq.2_Missense_Mutation_p.T51M|CD209_uc002mhq.2_Missense_Mutation_p.T51M|CD209_uc002mhv.2_Intron|CD209_uc002mhx.2_Intron|CD209_uc002mhw.2_Intron|CD209_uc010dvr.2_Missense_Mutation_p.T51M	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	51					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGCCAAGAGCGTGAAGGAGAG	0.647													38	110					0	0	1	0	0	A	7811372	G	A	7811372	3	1	115	1	0	0	0	0	1	0	0	0	2984	1145	40	1	1082	1	CD209	19	7811372	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08	873713	7811372	51317611	43	5207											
ZNF560	147741	broad.mit.edu	37	chr19	9577542	9577542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgaaagcacatggaatttCgaaaggaatttccacatgcg	15	9	9	8	2	0	1	0	1	0	0	2	4	1	3	1	2	2	1	1	2	4	2	rs148650284		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:9577542C>T	uc002mlp.1	-	9	2291	c.2081G>A	c.(2080-2082)cGa>cAa	p.R694Q	ZNF560_uc010dwr.1_Missense_Mutation_p.R588Q	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	694					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R694Q(2)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CATGGAATTTCGAAAGGAATT	0.378													35	119					0	0	1	0	0	T	9577542	C	T	9577542	3	4	115	1	0	0	0	0	1	0	0	0	17988	884	31	2	295	2	ZNF560	19	9577542	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	1766170	9577542	49551441	44	5208											
PGLYRP2	114770	broad.mit.edu	37	chr19	15586704	15586704	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgccttggggtccaaaagCgtaaaggtccgaggggcaga	11	6	16	8	2	0	1	0	0	0	1	2	3	2	1	3	5	2	2	3	5	4	2			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:15586704C>T	uc002nbg.3	-	1	910	c.777G>A	c.(775-777)acG>acA	p.T259T	PGLYRP2_uc002nbf.4_Silent_p.T259T	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	259					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.T259T(3)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGTCCAAAAGCGTAAAGGTCC	0.617													16	64					0	0	1	0	0	T	15586704	C	T	15586704	2	4	115	1	0	0	0	0	0	0	0	1	11794	755	27	1		1	PGLYRP2	19	15586704	Silent	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	6009162	15586704	43542279	45	5209											
SIGLEC6	946	broad.mit.edu	37	chr19	52034027	52034027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgctgtggtcctggggcCgtggggtgattgtgagcacc	3	11	19	8	1	0	2	0	2	0	0	1	2	1	2	3	6	2	2	3	6	0	1			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:52034027C>T	uc002pwy.3	-	2	822	c.614G>A	c.(613-615)cGg>cAg	p.R205Q	SIGLEC6_uc002pwz.3_Missense_Mutation_p.R205Q|SIGLEC6_uc010ydb.2_Missense_Mutation_p.R169Q|SIGLEC6_uc010ydc.2_Missense_Mutation_p.R205Q|SIGLEC6_uc002pxa.3_Missense_Mutation_p.R205Q|SIGLEC6_uc010eoz.2_Missense_Mutation_p.R194Q|SIGLEC6_uc010epa.2_Missense_Mutation_p.R194Q|SIGLEC6_uc010epb.2_Missense_Mutation_p.R158Q	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	205	Ig-like C2-type 1.			RP -> A (in Ref. 4; AAB70702).	cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GTCCTGGGGCCGTGGGGTGAT	0.637													36	79					0	0	1	0	0	T	52034027	C	T	52034027	3	4	115	1	0	0	0	0	1	0	0	0	14312	652	23	2	804	2	SIGLEC6	19	52034027	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	36447323	52034027	7094956	46	5210											
ZNF845	91664	broad.mit.edu	37	chr19	53848775	53848775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagggtctattgacattcaGggatgtggccatagaattct	10	13	11	7	0	4	2	2	1	2	1	4	3	4	3	1	3	0	0	1	3	3	5			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:53848775G>A	uc010ydv.1	+	2	149	c.32G>A	c.(31-33)aGg>aAg	p.R11K	ZNF845_uc010ydw.1_Missense_Mutation_p.R11K	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	11	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TTGACATTCAGGGATGTGGCC	0.443													45	101					0	0	1	0	0	A	53848775	G	A	53848775	3	1	115	1	0	0	0	0	1	0	0	0	18188	1000	35	3	38	3	ZNF845	19	53848775	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08	1814748	53848775	5280208	47	5211											
LAIR2	3904	broad.mit.edu	37	chr19	55019286	55019286	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtccatctgagtcagaggCcagattccacattgactcag	10	10	10	11	0	3	4	2	2	1	2	5	4	5	4	3	2	0	0	3	2	0	2			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:55019286C>A	uc002qgc.3	+	2	373	c.251C>A	c.(250-252)gCc>gAc	p.A84D	LAIR2_uc002qga.1_Non-coding_Transcript|LAIR2_uc002qgb.1_Non-coding_Transcript|LAIR2_uc002qgd.3_Missense_Mutation_p.A84D|LAIR2_uc010erl.3_Missense_Mutation_p.A84D	NM_002288	NP_002279	Q6ISS4	LAIR2_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 2 (LAIR2), transcript variant 1, mRNA.	84	Ig-like C2-type.					extracellular region	receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		GAGTCAGAGGCCAGATTCCAC	0.502													6	100					5.9392e-07	6.39606e-07	1	1	0	A	55019286	C	A	55019286	3	1	115	1	0	0	0	0	1	0	0	0	8603	739	26	5	261	5	LAIR2	19	55019286	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	1170511	55019286	4109697	48	5212											
ZSCAN18	65982	broad.mit.edu	37	chr19	58601354	58601354	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgcccaggaactgctccAgcaccagcagctccagcatc	10	5	10	16	0	0	0	0	0	0	0	3	2	2	2	4	2	7	5	4	2	1	0			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:58601354A>G	uc010yht.1	-	1	479	c.449T>C	c.(448-450)cTg>cCg	p.L150P	ZSCAN18_uc002qrj.3_Missense_Mutation_p.L94P|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Missense_Mutation_p.L94P|ZSCAN18_uc002qri.2_Missense_Mutation_p.L94P|ZSCAN18_uc002qrk.1_Missense_Mutation_p.L94P|ZSCAN18_uc002qrl.2_Missense_Mutation_p.L94P	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN	Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA.	94					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GAACTGCTCCAGCACCAGCAG	0.677													33	94					0	0	1	0	0	G	58601354	A	G	58601354	3	3	115	1	0	0	0	0	1	0	0	0	18227	188	7	4	1275	4	ZSCAN18	19	58601354	Missense_Mutation	SNP	A	TCGA-DU-A5TT-01A-11D-A289-08	3582068	58601354	527629	49	5213											
CBLN4	140689	broad.mit.edu	37	chr20	54578992	54578992	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctcggatggctcgtggttgGtgctccgcaccgccgagaag	5	9	15	12	5	1	1	0	0	1	1	4	3	2	2	3	4	1	4	3	4	1	1			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr20:54578992G>T	uc002xxa.3	-	0	1021	c.236C>A	c.(235-237)aCc>aAc	p.T79N		NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	Homo sapiens cerebellin 4 precursor (CBLN4), mRNA.	79	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			CTCGTGGTTGGTGCTCCGCAC	0.652													61	198					7.92265e-33	9.09156e-33	1	1	0	T	54578992	G	T	54578992	3	4	115	1	0	0	0	0	1	0	0	0	2707	1261	44	5	381	5	CBLN4	20	54578992	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08		54578992	8446528	50	5214											
KRTAP10-5	386680	broad.mit.edu	37	chr21	46000163	46000163	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagagcaggtgggcaggcagCacacaggcttgcagcagacg	11	4	16	10	1	0	2	0	0	0	2	0	2	0	2	0	4	4	7	0	4	1	2			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr21:46000163C>G	uc002zfl.1	-	0	319	c.293G>C	c.(292-294)tGc>tCc	p.C98S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198694	NP_941967	P60370	KR105_HUMAN	Homo sapiens keratin associated protein 10-5 (KRTAP10-5), mRNA.	98	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						gggcaggcagcacacaggctt	0.652													60	89					0	0	1	0	0	G	46000163	C	G	46000163	3	3	115	1	0	0	0	0	1	0	0	0	8512	710	25	5	526	5	KRTAP10-5	21	46000163	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08		46000163	2129732	51	5215											
ITGB2	3689	broad.mit.edu	37	chr21	46320364	46320364	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcaaacaccagcagccgCgtgacgttgcgccagccgat	9	5	13	14	5	0	1	0	1	0	0	0	2	0	1	4	1	5	3	4	1	1	1			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr21:46320364C>T	uc002zgd.2	-	5	812	c.768G>A	c.(766-768)acG>acA	p.T256T	ITGB2_uc002zgf.3_Silent_p.T256T|ITGB2_uc011afl.1_Silent_p.T178T|ITGB2_uc010gpw.2_Silent_p.T199T|ITGB2_uc002zgg.2_Silent_p.T256T	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	256	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CCAGCAGCCGCGTGACGTTGC	0.657													41	63					0	0	1	0	0	T	46320364	C	T	46320364	2	4	115	1	0	0	0	0	0	0	0	1	7894	755	27	1		1	ITGB2	21	46320364	Silent	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	320201	46320364	1809531	52	5216											
MAGEB16	139604	broad.mit.edu	37	chrX	35820627	35820627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcagaggatacatcagaccCcaggaatgtgcccgcagatg	12	6	11	12	1	2	3	2	0	0	3	2	5	2	5	3	2	2	1	3	2	2	1			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chrX:35820627C>T	uc010ngt.1	+	1	593	c.314C>T	c.(313-315)cCc>cTc	p.P105L	MAGEB16_uc022bus.1_Missense_Mutation_p.P105L	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	105										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						ACATCAGACCCCAGGAATGTG	0.468													10	14					0	0	1	0	0	T	35820627	C	T	35820627	3	4	115	1	0	0	0	0	1	0	0	0	9174	623	22	3	316	3	MAGEB16	23	35820627	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08		35820627	119449933	53	5217											
RPS6KA6	27330	broad.mit.edu	37	chrX	83319382	83319382	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaaaggtcttgtgagtcAgggcagagtatgttgcaacc	10	11	14	6	0	2	3	1	2	1	1	2	3	2	3	1	2	2	5	1	2	3	4			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chrX:83319382A>G	uc004eej.2	-	21	2177	c.2141T>C	c.(2140-2142)cTg>cCg	p.L714P	RPS6KA6_uc011mqt.2_Missense_Mutation_p.L714P|RPS6KA6_uc011mqu.2_Missense_Mutation_p.L611P	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	714					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CTTGTGAGTCAGGGCAGAGTA	0.418													8	12					0	0	1	0	0	G	83319382	A	G	83319382	3	3	115	1	0	0	0	0	1	0	0	0	13655	188	7	4	100	4	RPS6KA6	23	83319382	Missense_Mutation	SNP	A	TCGA-DU-A5TT-01A-11D-A289-08	47498755	83319382	71951178	54	5218											
SLITRK4	139065	broad.mit.edu	37	chrX	142717376	142717376	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagagattgcaactgatcaaGgaccccactgacaggcaggt	14	6	11	10	0	1	3	1	2	0	1	1	5	1	4	2	3	2	2	2	3	3	1			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chrX:142717376G>T	uc022cfm.1	-	0	1549	c.1549C>A	c.(1549-1551)Ctt>Att	p.L517I	SLITRK4_uc022cfl.1_Missense_Mutation_p.L517I|SLITRK4_uc004fbx.3_Missense_Mutation_p.L517I|SLITRK4_uc004fby.3_Missense_Mutation_p.L517I	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	517						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AACTGATCAAGGACCCCACTG	0.483													68	76					9.61844e-40	1.14117e-39	1	1	0	T	142717376	G	T	142717376	3	4	115	1	0	0	0	0	1	0	0	0	14745	1000	35	5	968	5	SLITRK4	23	142717376	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08	59397994	142717376	12553184	55	5219											
WARS2	10352	broad.mit.edu	37	chr1	119576827	119576827	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcctccccaacaggaacGtgtgtggacctttaataaaa	13	10	8	10	1	0	1	0	1	0	0	2	3	2	3	4	2	2	0	4	2	5	3			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr1:119576827G>A	uc001ehn.3	-	4	553	c.525C>T	c.(523-525)caC>caT	p.H175H	WARS2_uc010oxf.2_Silent_p.H81H|WARS2_uc001ehm.3_Silent_p.H175H|WARS2_uc010oxg.2_Silent_p.H118H|WARS2_uc010oxh.2_Missense_Mutation_p.R147C|WARS2_uc010oxi.2_Missense_Mutation_p.R53C	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	Homo sapiens tryptophanyl tRNA synthetase 2, mitochondrial (WARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	175					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	p.H175H(3)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	CAACAGGAACGTGTGTGGACC	0.433													27	53					0	0	1	0	0	A	119576827	G	A	119576827	2	1	116	1	0	0	0	0	0	0	0	1	17247	1136	40	1		1	WARS2	1	119576827	Silent	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08		119576827	129673794	1	5220											
CD1B	910	broad.mit.edu	37	chr1	158298792	158298792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccaaaacaattgagccaatgGaggtggggtttcctggcaat	12	9	12	8	0	0	1	0	1	0	0	1	2	1	2	3	5	2	2	3	5	5	2			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr1:158298792G>A	uc001frx.3	-	4	1007	c.899C>T	c.(898-900)tCc>tTc	p.S300F	CD1B_uc001frw.3_Missense_Mutation_p.S245F	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	300					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TGAGCCAATGGAGGTGGGGTT	0.463													17	38					0	0	1	0	0	A	158298792	G	A	158298792	3	1	116	1	0	0	0	0	1	0	0	0	2975	1174	41	3	110	3	CD1B	1	158298792	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08	38721965	158298792	90951829	2	5221											
ARHGAP30	257106	broad.mit.edu	37	chr1	161019353	161019353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actcaggttctgagctgcttGagtcctctaggaaggagaag	10	10	13	8	0	3	3	1	2	2	1	4	5	4	4	1	3	2	3	1	3	3	3			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr1:161019353G>A	uc001fxl.3	-	10	1893	c.1547C>T	c.(1546-1548)tCa>tTa	p.S516L	ARHGAP30_uc001fxk.3_Missense_Mutation_p.S516L|ARHGAP30_uc001fxm.3_Missense_Mutation_p.S362L|ARHGAP30_uc009wtx.3_Missense_Mutation_p.S189L|ARHGAP30_uc001fxn.1_Missense_Mutation_p.S362L	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	516					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S516L(3)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TGAGCTGCTTGAGTCCTCTAG	0.647													66	110					0	0	1	0	0	A	161019353	G	A	161019353	3	1	116	1	0	0	0	0	1	0	0	0	879	1294	45	3	1766	3	ARHGAP30	1	161019353	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08	2720561	161019353	88231268	3	5222											
ADSS	159	broad.mit.edu	37	chr1	244581040	244581040	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctctaccccttgtttgtaaTaattctccaatttcctacag	9	17	3	12	0	2	0	0	0	2	0	5	0	3	0	4	0	2	2	4	0	5	8			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr1:244581040T>C	uc001iaj.3	-	9	1277	c.960A>G	c.(958-960)ttA>ttG	p.L320L		NM_001126	NP_001117	P30520	PURA2_HUMAN	Homo sapiens adenylosuccinate synthase (ADSS), mRNA.	320					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	GTP binding|adenylosuccinate synthase activity|magnesium ion binding|phosphate binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	TTGTTTGTAATAATTCTCCAA	0.363													20	25					0	0	1	0	0	C	244581040	T	C	244581040	2	2	116	1	0	0	0	0	0	0	0	1	347	1403	49	3		3	ADSS	1	244581040	Silent	SNP	T	TCGA-DU-A5TU-01A-11D-A289-08	83561687	244581040	4669581	4	5223											
RSAD2	91543	broad.mit.edu	37	chr2	7027291	7027291	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcactaaaccctgtccgctGgaaagtaagtacacaaggtc	14	7	9	11	1	0	0	0	0	0	0	2	1	1	1	2	2	3	4	2	2	6	3			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr2:7027291G>A	uc002qyp.1	+	2	870	c.734G>A	c.(733-735)tGg>tAg	p.W245*		NM_080657	NP_542388	Q8WXG1	RSAD2_HUMAN	Homo sapiens radical S-adenosyl methionine domain containing 2 (RSAD2), mRNA.	245					defense response to virus	Golgi apparatus|endoplasmic reticulum membrane	catalytic activity|iron-sulfur cluster binding|metal ion binding	p.R244H(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		CCTGTCCGCTGGAAAGTAAGT	0.378													14	42					0	0	1	0	0	A	7027291	G	A	7027291	4	1	116	1	0	0	0	0	0	1	0	0	13695	1357	47	3	744	3	RSAD2	2	7027291	Nonsense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08		7027291	236172082	5	5224											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								24	40					0	0	1	0	0	T	209113112	C	T	209113112	3	4	116	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08	202085821	209113112	34086261	6	5225											
MORC1	27136	broad.mit.edu	37	chr3	108788570	108788570	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggttaaaatacagaacagAtgtgtaggctctgaatgacc	14	10	11	6	0	1	4	0	2	1	2	1	4	1	4	1	2	2	3	1	2	6	3			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr3:108788570A>C	uc003dxl.3	-	8	811	c.724T>G	c.(724-726)Tct>Gct	p.S242A	MORC1_uc011bhn.2_Missense_Mutation_p.S242A	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	242					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TACAGAACAGATGTGTAGGCT	0.378													26	38					0	0	1	0	0	C	108788570	A	C	108788570	3	2	116	1	0	0	0	0	1	0	0	0	9701	333	12	5	2310	5	MORC1	3	108788570	Missense_Mutation	SNP	A	TCGA-DU-A5TU-01A-11D-A289-08		108788570	89233860	7	5226											
SLCO2A1	6578	broad.mit.edu	37	chr3	133670173	133670173	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatcgggggtcacccgggAccaagttaactgcagctgaa	10	7	12	12	2	1	1	1	1	0	0	3	2	2	2	3	3	3	3	3	3	3	1			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr3:133670173A>G	uc003eqa.4	-	5	1014	c.740T>C	c.(739-741)gTc>gCc	p.V247A	SLCO2A1_uc011blv.2_Intron|SLCO2A1_uc010htw.1_Missense_Mutation_p.V79A	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	247					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GTCACCCGGGACCAAGTTAAC	0.478													13	49					0	0	1	0	0	G	133670173	A	G	133670173	3	3	116	1	0	0	0	0	1	0	0	0	14726	275	10	3	1227	3	SLCO2A1	3	133670173	Missense_Mutation	SNP	A	TCGA-DU-A5TU-01A-11D-A289-08	24881603	133670173	64352257	8	5227											
RFC1	5981	broad.mit.edu	37	chr4	39306546	39306546	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccacgtagctgtatcccaaCtcctaatcaaaatattggaa	14	11	5	11	1	1	0	1	0	0	0	4	1	4	1	3	1	2	3	3	1	8	5			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr4:39306546C>T	uc003gty.2	-	14	2141	c.2001G>A	c.(1999-2001)gaG>gaA	p.E667E	RFC1_uc003gtx.2_Silent_p.E666E	NM_001204747	NP_001191676	P35251	RFC1_HUMAN	Homo sapiens replication factor C (activator 1) 1, 145kDa (RFC1), transcript variant 2, mRNA.	667					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGTATCCCAACTCCTAATCAA	0.433													16	219					0	0	1	0	0	T	39306546	C	T	39306546	2	4	116	1	0	0	0	0	0	0	0	1	13244	564	20	3		3	RFC1	4	39306546	Silent	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08		39306546	151847730	9	5228											
ENPEP	2028	broad.mit.edu	37	chr4	111397844	111397844	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggacagtggaaaaactttCgactgccggacttcgtcaac	11	8	11	11	4	1	0	1	0	0	0	3	4	1	3	1	3	3	0	1	3	3	2	rs143343563		TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr4:111397844C>T	uc003iab.4	+	0	616	c.274C>T	c.(274-276)Cga>Tga	p.R92*		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	92					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)	GAAAAACTTTCGACTGCCGGA	0.612													16	119					0	0	1	0	0	T	111397844	C	T	111397844	4	4	116	1	0	0	0	0	0	1	0	0	5128	876	31	2	276	2	ENPEP	4	111397844	Nonsense_Mutation	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08	72091298	111397844	79756432	10	5229											
KIAA1109	84162	broad.mit.edu	37	chr4	123140536	123140536	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacatgtatatggattttgaAgaggttatctcaagtcctgt	11	15	10	5	0	1	2	1	1	1	1	3	4	2	3	1	2	0	2	1	2	5	5			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr4:123140536A>G	uc003ieh.3	+	18	2334	c.2289A>G	c.(2287-2289)gaA>gaG	p.E763E	KIAA1109_uc003iei.1_Silent_p.E517E|KIAA1109_uc010ins.1_Silent_p.E107E|KIAA1109_uc003iej.1_Silent_p.E148E	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	763					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGGATTTTGAAGAGGTTATCT	0.353													59	97					0	0	1	0	0	G	123140536	A	G	123140536	2	3	116	1	0	0	0	0	0	0	0	1	8208	69	3	4		4	KIAA1109	4	123140536	Silent	SNP	A	TCGA-DU-A5TU-01A-11D-A289-08	11742692	123140536	68013740	11	5230											
PHF17	79960	broad.mit.edu	37	chr4	129782915	129782915	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acctgtgcttttgaccggggCctggagatgaagaccatctt	8	11	12	10	1	1	4	0	2	1	2	1	5	1	4	4	3	1	1	4	3	1	3			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr4:129782915C>T	uc011cgy.2	+	8	1352	c.1038C>T	c.(1036-1038)ggC>ggT	p.G346G	PHF17_uc003igj.3_Silent_p.G346G|PHF17_uc003igk.3_Silent_p.G346G|PHF17_uc003igl.3_Silent_p.G334G|PHF17_uc003igm.3_Silent_p.G346G	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	Homo sapiens PHD finger protein 17 (PHF17), transcript variant L, mRNA.	346					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TTGACCGGGGCCTGGAGATGA	0.478													58	112					0	0	1	0	0	T	129782915	C	T	129782915	2	4	116	1	0	0	0	0	0	0	0	1	11828	726	26	3		3	PHF17	4	129782915	Silent	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08	6642379	129782915	61371361	12	5231											
MAP3K1	4214	broad.mit.edu	37	chr5	56178277	56178277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaaaaatagcatgacacttGatctgaacagtagttccaaa	18	9	6	8	0	1	3	0	3	1	0	2	3	2	3	1	0	2	3	1	0	7	4			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr5:56178277G>A	uc003jqw.4	+	13	3751	c.3250G>A	c.(3250-3252)Gat>Aat	p.D1084N		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	1084					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CATGACACTTGATCTGAACAG	0.453													6	72					0	0	1	0	0	A	56178277	G	A	56178277	3	1	116	1	0	0	0	0	1	0	0	0	9243	1290	45	3	3304	3	MAP3K1	5	56178277	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08		56178277	124736983	13	5232											
CARD11	84433	broad.mit.edu	37	chr7	2954958	2954958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccgagatgatgcggacccGctcgttgctgttcatccgct	5	10	11	15	5	1	2	1	1	0	1	3	4	2	3	4	1	2	5	4	1	0	2			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr7:2954958G>A	uc003smv.3	-	20	3086	c.2752C>T	c.(2752-2754)Cgg>Tgg	p.R918W		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	918					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.G917G(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		ATGCGGACCCGCTCGTTGCTG	0.592			Mis		DLBCL								34	80					0	0	1	0	0	A	2954958	G	A	2954958	3	1	116	1	0	0	0	0	1	0	0	0	2645	1086	38	1	732	1	CARD11	7	2954958	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08		2954958	156183705	14	5233											
FKBP6	8468	broad.mit.edu	37	chr7	72755293	72755293	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgtcttctcctgactgagTatcaaaaggcccgggatttt	8	14	9	10	1	3	2	1	2	2	0	4	3	3	3	2	2	0	1	2	2	3	5			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr7:72755293T>C	uc003tya.2	+	6	937	c.805T>C	c.(805-807)Tat>Cat	p.Y269H	FKBP6_uc003twz.2_Missense_Mutation_p.Y239H|FKBP6_uc011kew.1_Missense_Mutation_p.Y264H|FKBP6_uc010lbe.1_Non-coding_Transcript	NM_003602	NP_003593	O75344	FKBP6_HUMAN	Homo sapiens FK506 binding protein 6, 36kDa (FKBP6), transcript variant 1, mRNA.	269					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCTGACTGAGTATCAAAAGGC	0.463													24	290					0	0	1	0	0	C	72755293	T	C	72755293	3	2	116	1	0	0	0	0	1	0	0	0	5912	1638	57	3	877	3	FKBP6	7	72755293	Missense_Mutation	SNP	T	TCGA-DU-A5TU-01A-11D-A289-08	69800335	72755293	86383370	15	5234											
AKAP9	10142	broad.mit.edu	37	chr7	91631134	91631134	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttctatttagtcacgaaGaagagctttccaaactgaag	14	11	8	8	1	2	3	1	1	1	2	3	4	3	3	1	0	3	2	1	0	6	5			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr7:91631134G>T	uc003ulg.3	+	7	2128	c.1903G>T	c.(1903-1905)Gaa>Taa	p.E635*	AKAP9_uc003ule.2_Nonsense_Mutation_p.E647*|AKAP9_uc003ulf.3_Nonsense_Mutation_p.E635*|AKAP9_uc003uli.3_Nonsense_Mutation_p.E260*	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	647	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TAGTCACGAAGAAGAGCTTTC	0.328			T	BRAF	papillary thyroid								46	59					1.06522e-23	1.15785e-23	1	1	0	T	91631134	G	T	91631134	4	4	116	1	0	0	0	0	0	1	0	0	459	943	33	5	1933	5	AKAP9	7	91631134	Nonsense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08	18875841	91631134	67507529	16	5235											
GJC3	349149	broad.mit.edu	37	chr7	99526519	99526519	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaggctatcggttgctttcTtgtgtcttctggtgctctct	2	18	12	9	1	4	0	0	0	4	0	6	1	4	1	0	4	2	4	0	4	1	5			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr7:99526519T>G	uc011kjd.2	-	0	725	c.725A>C	c.(724-726)aAg>aCg	p.K242T		NM_181538	NP_853516	Q8NFK1	CXG3_HUMAN	Homo sapiens gap junction protein, gamma 3, 30.2kDa (GJC3), mRNA.	242						connexon complex|integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GGTTGCTTTCTTGTGTCTTCT	0.483													19	72					0	0	1	0	0	G	99526519	T	G	99526519	3	3	116	1	0	0	0	0	1	0	0	0	6416	1609	56	5	122	5	GJC3	7	99526519	Missense_Mutation	SNP	T	TCGA-DU-A5TU-01A-11D-A289-08	7895385	99526519	59612144	17	5236											
CALD1	800	broad.mit.edu	37	chr7	134618474	134618476	+	In_Frame_Del	DEL	GGA	GGA	-																															gaagagagggaaaggatgagGgaggaagagaaaagggcagc																										TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr7:134618474_134618476delGGA	uc003vrz.3	+	4	1420_1422	c.954_956delGGA	c.(952-957)agggag>agg	p.E321del	CALD1_uc003vry.3_Intron|CALD1_uc003vsb.3_Intron|CALD1_uc011kpt.2_Intron|CALD1_uc010lmm.3_Intron|CALD1_uc003vsc.3_Intron|CALD1_uc003vsd.3_Intron|CALD1_uc011kpu.2_Intron|CALD1_uc011kpv.2_Intron|CALD1_uc003vse.3_In_Frame_Del_p.E185del	NM_033138	NP_149129	Q05682	CALD1_HUMAN	Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.	321	3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						aaaggatgagggaggaagagaaa	0.483													8	7	---	---	---	---						-	134618476	GGA	-	134618474	7	5	116	1	0	1	0	1	0	0	0	0	2581	1223	43	0	1021	0	CALD1	7	134618474	In_Frame_Del	DEL	GGA	TCGA-DU-A5TU-01A-11D-A289-08	35091955	134618474	24520189	18	5237											
SLC39A4	55630	broad.mit.edu	37	chr8	145639357	145639357	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacctccgggtccctgggCagcaggagattgaagaggtt	8	8	15	10	1	0	4	0	2	0	2	2	5	2	4	3	4	1	3	3	4	1	2			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr8:145639357C>G	uc003zcq.3	-	6	1372	c.1272G>C	c.(1270-1272)ctG>ctC	p.L424L	SLC39A4_uc003zcm.1_5'Flank|SLC39A4_uc003zcn.3_5'Flank|SLC39A4_uc003zco.3_Silent_p.L148L|SLC39A4_uc003zcp.3_Silent_p.L399L	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 4 (SLC39A4), transcript variant 2, mRNA.	424						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			GGTCCCTGGGCAGCAGGAGAT	0.652													15	10					0	0	1	0	0	G	145639357	C	G	145639357	2	3	116	1	0	0	0	0	0	0	0	1	14620	697	25	5		5	SLC39A4	8	145639357	Silent	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08		145639357	724665	19	5238											
PLCE1	51196	broad.mit.edu	37	chr10	96005955	96005955	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccgacaatagcaccttGacctgggtaaagcccacaac	13	5	8	15	1	0	1	0	1	0	0	0	2	0	1	4	1	4	2	4	1	5	3			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr10:96005955G>T	uc001kjk.3	+	7	3307	c.2673G>T	c.(2671-2673)ttG>ttT	p.L891F	PLCE1_uc010qnx.2_Missense_Mutation_p.L891F|PLCE1_uc001kjm.3_Missense_Mutation_p.L583F	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	891					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ATAGCACCTTGACCTGGGTAA	0.552													28	29					1.77063e-15	1.88365e-15	1	1	0	T	96005955	G	T	96005955	3	4	116	1	0	0	0	0	1	0	0	0	12034	1281	45	5	2985	5	PLCE1	10	96005955	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08		96005955	39528792	20	5239											
ENTPD7	57089	broad.mit.edu	37	chr10	101464242	101464242	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtgtccgacaagcccaTggtagctggttccgtctctc	7	10	12	12	2	1	0	0	0	1	0	5	2	3	0	3	3	2	3	3	3	3	2			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr10:101464242T>C	uc009xwl.3	+	13	1978	c.1623T>C	c.(1621-1623)caT>caC	p.H541H	ENTPD7_uc001kqa.4_Silent_p.H539H	NM_020354	NP_065087	Q9NQZ7	ENTP7_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 7 (ENTPD7), mRNA.	539						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity	p.G540G(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		GACAAGCCCATGGTAGCTGGT	0.458													37	72					0	0	1	0	0	C	101464242	T	C	101464242	2	2	116	1	0	0	0	0	0	0	0	1	5144	1461	51	3		3	ENTPD7	10	101464242	Silent	SNP	T	TCGA-DU-A5TU-01A-11D-A289-08	5458287	101464242	34070505	21	5240											
ACTN3	89	broad.mit.edu	37	chr11	66330634	66330634	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggactacgtggccttctcCagtgccctctatggggagag	6	10	13	12	1	2	1	0	0	2	1	3	3	2	2	3	4	2	0	3	4	2	3			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr11:66330634C>T	uc021qma.1	+	10	1443	c.930C>T	c.(928-930)tcC>tcT	p.S310S	ACTN3_uc021qlz.1_Non-coding_Transcript			Q08043	ACTN3_HUMAN	Homo sapiens actinin, alpha 3 (ACTN3), mRNA.	892					focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						TGGCCTTCTCCAGTGCCCTCT	0.627													38	41					0	0	1	0	0	T	66330634	C	T	66330634	2	4	116	1	0	0	0	0	0	0	0	1	206	581	21	3		3	ACTN3	11	66330634	Silent	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08		66330634	68675882	22	5241											
FAM123A	219287	broad.mit.edu	37	chr13	25743874	25743874	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcatctcactcctggagggTtgctggtgcaccacgggatg	6	9	15	11	1	1	0	1	0	1	0	3	2	2	2	2	5	2	4	2	5	0	1			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr13:25743874T>C	uc001uqb.3	-	0	1984	c.1884A>G	c.(1882-1884)caA>caG	p.Q628Q	FAM123A_uc001uqa.3_Silent_p.Q509Q|FAM123A_uc001uqc.3_Silent_p.Q509Q	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	Homo sapiens family with sequence similarity 123A (FAM123A), transcript variant 1, mRNA.	628										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TCCTGGAGGGTTGCTGGTGCA	0.557													65	102					0	0	1	0	0	C	25743874	T	C	25743874	2	2	116	1	0	0	0	0	0	0	0	1	5422	1722	60	3		3	FAM123A	13	25743874	Silent	SNP	T	TCGA-DU-A5TU-01A-11D-A289-08		25743874	89426004	23	5242											
SLC7A7	9056	broad.mit.edu	37	chr14	23282566	23282566	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaaggggaggtttccacCtcaggctgggaggccacttc	8	7	13	13	0	1	0	1	0	0	0	3	2	2	2	4	6	0	2	4	6	1	2			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr14:23282566C>T	uc001wgr.4	-	1	180	c.42G>A	c.(40-42)gaG>gaA	p.E14E	SLC7A7_uc001wgs.4_Silent_p.E14E|SLC7A7_uc001wgt.4_Silent_p.E14E|SLC7A7_uc001wgu.4_Silent_p.E14E|SLC7A7_uc001wgv.4_Silent_p.E14E	NM_001126106	NP_001119578	Q9UM01	YLAT1_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 (SLC7A7), transcript variant 3, mRNA.	14					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		AGGTTTCCACCTCAGGCTGGG	0.562													38	77					0	0	1	0	0	T	23282566	C	T	23282566	2	4	116	1	0	0	0	0	0	0	0	1	14703	680	24	3		3	SLC7A7	14	23282566	Silent	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08		23282566	84066974	24	5243											
RTL1	388015	broad.mit.edu	37	chr14	101347483	101347483	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccaggtagcggttctgacGcagggcagggaggtggccct	6	7	17	11	2	1	1	0	1	1	0	2	2	2	2	2	6	1	4	2	6	1	2			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr14:101347483G>A	uc010txj.1	-	0	3702	c.3643C>T	c.(3643-3645)Cgt>Tgt	p.R1215C	MIR433_uc021scd.1_5'Flank|MIR127_uc001yig.3_5'Flank	NM_001134888	NP_001128360	E9PKS8	E9PKS8_HUMAN	Homo sapiens retrotransposon-like 1 (RTL1), mRNA.	1215								p.R1215H(1)		breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CGGTTCTGACGCAGGGCAGGG	0.627													4	2					0	0	1	0	0	A	101347483	G	A	101347483	3	1	116	1	0	0	0	0	1	0	0	0	13724	1087	38	1	437	1	RTL1	14	101347483	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08	78064917	101347483	6002057	25	5244											
FBN1	2200	broad.mit.edu	37	chr15	48764791	48764791	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcacgaagcccatgtcGcattcacagcggtatcctcc	8	8	10	15	3	1	0	1	0	0	0	4	1	3	0	3	2	2	3	3	2	2	2	rs112375043		TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr15:48764791G>A	uc001zwx.2	-	34	4688	c.4293C>T	c.(4291-4293)tgC>tgT	p.C1431C		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1431	EGF-like 24; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGCCCATGTCGCATTCACAGC	0.527													71	106					0	0	1	0	0	A	48764791	G	A	48764791	2	1	116	1	0	0	0	0	0	0	0	1	5702	1079	38	1		1	FBN1	15	48764791	Silent	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08		48764791	53766601	26	5245											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84373247	84373247	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagcagttcctcacttatcGctatgatgaccaggtaagaa	12	10	10	9	1	1	3	1	2	0	1	3	4	2	4	2	2	1	4	2	2	4	4	rs77028575	byFrequency	TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr15:84373247G>T	uc002bjz.4	+	2	400	c.176G>T	c.(175-177)cGc>cTc	p.R59L	ADAMTSL3_uc002bjy.1_Missense_Mutation_p.R59L|ADAMTSL3_uc010bmt.1_Missense_Mutation_p.R59L	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	59						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTCACTTATCGCTATGATGAC	0.453													65	102					3.94839e-29	4.3871e-29	1	1	0	T	84373247	G	T	84373247	3	4	116	1	0	0	0	0	1	0	0	0	276	1087	38	5	182	5	ADAMTSL3	15	84373247	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08	35608456	84373247	18158145	27	5246											
ACAN	176	broad.mit.edu	37	chr15	89386881	89386881	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgccatctgctacacaggTggggcacggctggtggtggg	6	7	18	10	2	1	0	0	0	1	0	1	1	1	0	1	7	2	3	1	7	1	1			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr15:89386881T>C	uc010upo.1	+	6	1425	c.1051_splice	c.e6+2	p.G351_splice	ACAN_uc002bmx.3_Splice_Site_p.G351_splice|ACAN_uc010upp.1_Splice_Site_p.G351_splice|ACAN_uc002bna.2_Splice_Site	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	351					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GCTACACAGGTGGGGCACGGC	0.607													11	93					0	0	1	0	0	C	89386881	T	C	89386881	5	2	116	1	0	0	0	0	0	0	1	0	117	1710	59	3	1071	3	ACAN	15	89386881	Splice_Site	SNP	T	TCGA-DU-A5TU-01A-11D-A289-08	5013634	89386881	13144511	28	5247											
WDR81	124997	broad.mit.edu	37	chr17	1636086	1636086	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggtgttcaccctggagAtggcatacacaatctacgtg	12	9	11	9	1	2	2	1	0	1	2	2	3	2	2	1	3	2	2	1	3	4	3			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr17:1636086A>G	uc002ftj.2	+	5	4579	c.4450A>G	c.(4450-4452)Atg>Gtg	p.M1484V	WDR81_uc002fth.2_Missense_Mutation_p.M433V|WDR81_uc010vqp.1_Missense_Mutation_p.M281V|WDR81_uc002fti.2_Missense_Mutation_p.M257V|WDR81_uc010vqq.1_Missense_Mutation_p.M115V	NM_001163809	NP_001157281	B3KXU1	B3KXU1_HUMAN	Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA.	257										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CACCCTGGAGATGGCATACAC	0.627													22	27					0	0	1	0	0	G	1636086	A	G	1636086	3	3	116	1	0	0	0	0	1	0	0	0	17327	333	12	3	4534	3	WDR81	17	1636086	Missense_Mutation	SNP	A	TCGA-DU-A5TU-01A-11D-A289-08		1636086	79559124	29	5248											
TP53	7157	broad.mit.edu	37	chr17	7578524	7578524	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcaggtcttggccagttGgcaaaacatcttgttgaggg	9	10	15	7	0	2	1	0	1	2	0	2	1	2	1	1	5	1	4	1	5	2	4			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr17:7578524G>C	uc002gim.2	-	4	600	c.406C>G	c.(406-408)Caa>Gaa	p.Q136E	TP53_uc002gig.1_Missense_Mutation_p.Q136E|TP53_uc002gih.3_Missense_Mutation_p.Q136E|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Q4E|TP53_uc010cnf.1_Missense_Mutation_p.Q4E|TP53_uc002gii.1_Missense_Mutation_p.Q4E|TP53_uc010cni.1_Missense_Mutation_p.Q136E|TP53_uc010cnh.1_Missense_Mutation_p.Q136E|TP53_uc002gij.2_Missense_Mutation_p.Q136E|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.Q43E|TP53_uc002gio.2_Missense_Mutation_p.Q4E|TP53_uc010vug.2_Missense_Mutation_p.Q97E	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	136	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Q136*(67)|p.C135Y(53)|p.C135F(39)|p.C135W(22)|p.C135S(11)|p.C135R(9)|p.C135fs*35(9)|p.0?(8)|p.C135G(7)|p.C135*(7)|p.Q136E(6)|p.C135C(5)|p.Q136H(5)|p.C135fs*9(4)|p.Q136Q(4)|p.Q136P(3)|p.Q136fs*34(3)|p.Q136fs*13(3)|p.F134_T140>S(2)|p.Q136R(2)|p.K132_A138delKMFCQLA(2)|p.Q136K(2)|p.S127_Q136del10(2)|p.C135fs*14(2)|p.N131fs*27(2)|p.C135_A138delCQLA(2)|p.Q136_K139delQLAK(2)|p.C135_T140delCQLAKT(2)|p.C135_Q136insXXXXXX(2)|p.C135_Q136insX(2)|p.Q136L(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*36(1)|p.C135fs*15(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(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)		TTGGCCAGTTGGCAAAACATC	0.562		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)			55	14					0	0	1	0	0	C	7578524	G	C	7578524	3	2	116	1	0	0	0	0	1	0	0	0	16378	1357	47	5	892	5	TP53	17	7578524	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08	5942438	7578524	73616686	30	5249											
KRT31	3881	broad.mit.edu	37	chr17	39552727	39552727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttcagggactccacctggGcctccaggtcggacttgcac	6	8	11	16	1	1	0	1	0	0	0	4	2	3	2	5	4	1	1	5	4	0	2			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr17:39552727G>A	uc002hwn.3	-	2	586	c.533C>T	c.(532-534)gCc>gTc	p.A178V	KRT31_uc010cxn.3_Missense_Mutation_p.A178V	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	178	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CTCCACCTGGGCCTCCAGGTC	0.587													27	57					0	0	1	0	0	A	39552727	G	A	39552727	3	1	116	1	0	0	0	0	1	0	0	0	8467	1203	42	3	737	3	KRT31	17	39552727	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08	31974203	39552727	41642483	31	5250											
TXNDC2	84203	broad.mit.edu	37	chr18	9886961	9886961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acccatccagcccaagctggGcaatattcccaaggcctcag	11	6	8	16	0	1	0	1	0	0	0	3	0	3	0	5	2	2	2	5	2	4	2			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr18:9886961G>A	uc002koi.4	+	1	934	c.485G>A	c.(484-486)gGc>gAc	p.G162D	TXNDC2_uc002koh.4_Missense_Mutation_p.G95D|TXNDC2_uc021ugx.1_Missense_Mutation_p.G95D	NM_001098529	NP_115619	Q86VQ3	TXND2_HUMAN	Homo sapiens thioredoxin domain containing 2 (spermatozoa) (TXNDC2), transcript variant 2, mRNA.	162	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCCAAGCTGGGCAATATTCCC	0.562													86	146					0	0	1	0	0	A	9886961	G	A	9886961	3	1	116	1	0	0	0	0	1	0	0	0	16794	1203	42	3	491	3	TXNDC2	18	9886961	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08		9886961	68190287	32	5251											
MAG	4099	broad.mit.edu	37	chr19	35793494	35793494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctgtccacggtcatctacGagagcgagctgcagctggag	8	8	13	12	3	2	1	1	0	1	1	4	4	4	2	2	2	5	3	2	2	1	1			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr19:35793494G>A	uc002nyy.2	+	6	1312	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	MAG_uc002nyx.2_Missense_Mutation_p.E372K|MAG_uc010eds.2_Missense_Mutation_p.E347K|MAG_uc002nyz.2_Missense_Mutation_p.E372K	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	372	Ig-like C2-type 3.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGTCATCTACGAGAGCGAGCT	0.587													9	101					0	0	1	0	0	A	35793494	G	A	35793494	3	1	116	1	0	0	0	0	1	0	0	0	9162	1059	37	2	1132	2	MAG	19	35793494	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08		35793494	23335489	33	5252											
TEX101	83639	broad.mit.edu	37	chr19	43922452	43922452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagctgctcactcaacctcGaaagactgaaaatggggcca	13	7	9	12	1	3	2	3	1	0	1	4	3	3	2	2	2	3	2	2	2	4	0			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr19:43922452G>A	uc002owk.3	+	8	1268	c.707G>A	c.(706-708)cGa>cAa	p.R236Q	TEX101_uc010xwo.2_Missense_Mutation_p.R218Q	NM_031451	NP_001123483	Q9BY14	TX101_HUMAN	Homo sapiens testis expressed 101 (TEX101), transcript variant 1, mRNA.	218						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				ACTCAACCTCGAAAGACTGAA	0.498													53	79					0	0	1	0	0	A	43922452	G	A	43922452	3	1	116	1	0	0	0	0	1	0	0	0	15770	1058	37	2	729	2	TEX101	19	43922452	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08	8128958	43922452	15206531	34	5253											
NFATC2	4773	broad.mit.edu	37	chr20	50091994	50091994	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctcagctcccagcccttaCgttgccctcatgttgttttt	4	15	6	16	1	2	0	2	0	0	0	3	0	3	0	4	0	4	4	4	0	1	5			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr20:50091994C>T	uc002xwd.3	-	4	1755	c.1535_splice	c.e4+1	p.T512_splice	NFATC2_uc002xwc.3_Splice_Site_p.T512_splice|NFATC2_uc010zyv.2_Splice_Site_p.T293_splice|NFATC2_uc010zyw.2_Splice_Site_p.T293_splice|NFATC2_uc002xwe.3_Splice_Site_p.T492_splice|NFATC2_uc010zyx.2_Splice_Site_p.T492_splice|NFATC2_uc010zyy.2_Splice_Site_p.T293_splice|NFATC2_uc010zyz.2_Splice_Site_p.T293_splice	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	512	RHD.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CCAGCCCTTACGTTGCCCTCA	0.567													28	100					0	0	1	0	0	T	50091994	C	T	50091994	5	4	116	1	0	0	0	0	0	0	1	0	10362	550	19	1	1317	1	NFATC2	20	50091994	Splice_Site	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08		50091994	12933526	35	5254											
CRYBB2	1415	broad.mit.edu	37	chr22	25623853	25623853	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaggccaactgcaagggCgagcagtttgtgtttgagaa	12	8	14	7	1	0	1	0	1	0	1	0	4	0	1	1	2	4	4	1	2	4	2			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr22:25623853C>T	uc003abp.1	+	3	255	c.207C>T	c.(205-207)ggC>ggT	p.G69G		NM_000496	NP_000487	P43320	CRBB2_HUMAN	Homo sapiens crystallin, beta B2 (CRYBB2), mRNA.	69	Beta/gamma crystallin 'Greek key' 2.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						ACTGCAAGGGCGAGCAGTTTG	0.587													45	80					0	0	1	0	0	T	25623853	C	T	25623853	2	4	116	1	0	0	0	0	0	0	0	1	3911	755	27	1		1	CRYBB2	22	25623853	Silent	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08		25623853	25680713	36	5255											
GAS2L1	10634	broad.mit.edu	37	chr22	29704343	29704343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcagccgcccgcccggcccGaggtgtggccttccaggcgc	3	4	16	18	5	0	0	0	0	0	0	1	1	1	0	6	5	1	1	6	5	0	1			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr22:29704343G>A	uc003afa.1	+	1	447	c.248G>A	c.(247-249)cGa>cAa	p.R83Q	GAS2L1_uc010gvm.1_Missense_Mutation_p.R83Q|GAS2L1_uc003afb.1_Missense_Mutation_p.R83Q|GAS2L1_uc003afc.1_Missense_Mutation_p.R83Q|GAS2L1_uc003afd.1_Missense_Mutation_p.R83Q|GAS2L1_uc003afe.1_Missense_Mutation_p.R83Q	NM_152236	NP_689422	Q99501	GA2L1_HUMAN	Homo sapiens growth arrest-specific 2 like 1 (GAS2L1), transcript variant 2, mRNA.	83	CH.				cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CGCCCGGCCCGAGGTGTGGCC	0.692													6	24					0	0	1	0	0	A	29704343	G	A	29704343	3	1	116	1	0	0	0	0	1	0	0	0	6246	1058	37	2	250	2	GAS2L1	22	29704343	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08	4080490	29704343	21600223	37	5256											
ATRX	546	broad.mit.edu	37	chrX	76778782	76778782	+	Frame_Shift_Del	DEL	A	A	-																															cttttctttcttcttcagtcAactcttcttcttctttgtgg																										TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:76778782delA	uc004ecp.4	-	30	7029	c.6797delT	c.(6796-6798)ttgfs	p.L2266fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.L2228fs|ATRX_uc004eco.4_Frame_Shift_Del_p.L2051fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2266					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTCTTCAGTCAACTCTTCTTC	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						48	148	---	---	---	---						-	76778782	A	-	76778782	7	5	116	1	0	1	0	1	0	0	0	0	1208	131	5	0	701	0	ATRX	23	76778782	Frame_Shift_Del	DEL	A	TCGA-DU-A5TU-01A-11D-A289-08		76778782	78491778	38	5257											
ZNF711	7552	broad.mit.edu	37	chrX	84525047	84525047	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattagaaagcagaagtagtAcagcagcacagtaccttcaa	17	7	8	9	0	1	2	1	0	0	2	1	2	1	2	1	0	5	6	1	0	7	5			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:84525047A>G	uc004eeq.3	+	8	2027	c.1141A>G	c.(1141-1143)Aca>Gca	p.T381A	ZNF711_uc004eep.3_Missense_Mutation_p.T335A|ZNF711_uc004eeo.3_Missense_Mutation_p.T335A|ZNF711_uc011mqy.1_5'UTR	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	335					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						CAGAAGTAGTACAGCAGCACA	0.348													19	53					0	0	1	0	0	G	84525047	A	G	84525047	3	3	116	1	0	0	0	0	1	0	0	0	18113	391	14	3	1025	3	ZNF711	23	84525047	Missense_Mutation	SNP	A	TCGA-DU-A5TU-01A-11D-A289-08	7746265	84525047	70745513	39	5258											
DCAF12L2	340578	broad.mit.edu	37	chrX	125298904	125298904	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgttctgctggcgctggCgcggatccaggaaggagacg	7	7	18	9	4	1	1	0	0	1	1	2	5	2	4	1	6	1	3	1	6	1	1			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:125298904C>G	uc004euk.2	-	0	1177	c.1004G>C	c.(1003-1005)cGc>cCc	p.R335P		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	335								p.R335H(2)|p.R335C(1)|p.P334P(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CTGGCGCTGGCGCGGATCCAG	0.627													11	158					0	0	1	0	0	G	125298904	C	G	125298904	3	3	116	1	0	0	0	0	1	0	0	0	4265	768	27	5	391	5	DCAF12L2	23	125298904	Missense_Mutation	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08	40773857	125298904	29971656	40	5259											
MAGEA8	4107	broad.mit.edu	37	chrX	149013642	149013642	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgggtgatgatcagagtaCgcccaagaccggcctcctga	9	7	13	12	2	1	5	1	3	0	2	2	5	2	5	4	2	1	2	4	2	2	1			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:149013642C>A	uc022cgq.1	+	0	596	c.596C>A	c.(595-597)aCg>aAg	p.T199K	MAGEA8_uc022cgo.1_Missense_Mutation_p.T199K|MAGEA8_uc004fdw.2_Missense_Mutation_p.T199K|MAGEA8_uc022cgp.1_Missense_Mutation_p.T199K	NM_005364	NP_005355	P43361	MAGA8_HUMAN	Homo sapiens melanoma antigen family A, 8 (MAGEA8), transcript variant 3, mRNA.	199	MAGE.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					GATCAGAGTACGCCCAAGACC	0.592													35	60					2.47316e-13	2.57621e-13	1	1	0	A	149013642	C	A	149013642	3	1	116	1	0	0	0	0	1	0	0	0	9171	536	19	5	598	5	MAGEA8	23	149013642	Missense_Mutation	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08	23714738	149013642	6256918	41	5260											
HCFC1	3054	broad.mit.edu	37	chrX	153225450	153225450	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcaggcacagatgggaccGgattgggtgtaggggaggtg	8	7	21	5	1	0	1	0	0	0	1	0	4	0	4	1	8	0	3	1	8	1	2			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:153225450G>C	uc004fjp.3	-	7	1775	c.1247C>G	c.(1246-1248)cCg>cGg	p.P416R		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	416					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGATGGGACCGGATTGGGTGT	0.637													32	104					0	0	1	0	0	C	153225450	G	C	153225450	3	2	116	1	0	0	0	0	1	0	0	0	6991	1116	39	5	4936	5	HCFC1	23	153225450	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08	4211808	153225450	2045110	42	5261											
NOC2L	26155	broad.mit.edu	37	chr1	883983	883983	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcgacctgctggaacaTctgccccaagggccgtgtca	9	7	12	13	2	2	0	1	0	1	0	3	3	2	1	4	2	3	1	4	2	3	0			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr1:883983T>C	uc009vjq.3	-	13	1503	c.1444_splice	c.e13-1	p.M482_splice	NOC2L_uc001aby.4_Splice_Site_p.M279_splice|NOC2L_uc001abz.4_Splice_Site_p.M482_splice	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) (NOC2L), mRNA.	482						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TGCTGGAACATCTGCCCCAAG	0.622													17	21					0	0	1	0	0	C	883983	T	C	883983	5	2	117	1	0	0	0	0	0	0	1	0	10513	1449	50	3	833	3	NOC2L	1	883983	Splice_Site	SNP	T	TCGA-DU-A5TW-01A-11D-A289-08		883983	248366638	1	5262											
PBXIP1	57326	broad.mit.edu	37	chr1	154918277	154918277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccagcccagggcagccGtgccaagtatgttcttagca	8	8	11	14	1	1	0	0	0	1	0	1	0	1	0	4	1	5	4	4	1	3	3			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr1:154918277G>A	uc001ffr.3	-	9	1932	c.1873C>T	c.(1873-1875)Cgg>Tgg	p.R625W	PBXIP1_uc001ffs.3_Missense_Mutation_p.R596W|PBXIP1_uc010pep.2_Missense_Mutation_p.R470W	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox interacting protein 1 (PBXIP1), mRNA.	625					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAGGGCAGCCGTGCCAAGTAT	0.617													10	100					0	0	1	0	0	A	154918277	G	A	154918277	3	1	117	1	0	0	0	0	1	0	0	0	11496	1144	40	1	330	1	PBXIP1	1	154918277	Missense_Mutation	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	154034294	154918277	94332344	2	5263											
RASSF5	83593	broad.mit.edu	37	chr1	206711607	206711607	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccagaaagcaccctcacCgtgaccttcagccaggtagg	10	7	9	15	1	3	2	2	1	1	1	4	2	3	2	5	2	2	2	5	2	2	2	rs138095666		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr1:206711607C>T	uc001hed.3	+	1	621	c.564C>T	c.(562-564)acC>acT	p.T188T	RASSF5_uc001hec.1_Silent_p.T188T|RASSF5_uc001hee.3_Silent_p.T188T	NM_182663	NP_872604	Q8WWW0	RASF5_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 5 (RASSF5), transcript variant 1, mRNA.	188					apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GCACCCTCACCGTGACCTTCA	0.592													68	97					0	0	1	0	0	T	206711607	C	T	206711607	2	4	117	1	0	0	0	0	0	0	0	1	13089	639	23	2		2	RASSF5	1	206711607	Silent	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	51793330	206711607	42539014	3	5264											
ARID5A	10865	broad.mit.edu	37	chr2	97217809	97217809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaacttcactggcacccCgggccccttgaagggccagg	7	6	13	15	1	1	2	1	2	0	0	1	2	1	2	5	4	1	2	5	4	2	2			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr2:97217809C>T	uc002swe.3	+	6	1644	c.1544C>T	c.(1543-1545)cCg>cTg	p.P515L	ARID5A_uc010yuq.2_Missense_Mutation_p.P463L|ARID5A_uc002swf.3_Missense_Mutation_p.P351L|ARID5A_uc002swg.3_Missense_Mutation_p.P463L	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	Homo sapiens AT rich interactive domain 5A (MRF1-like) (ARID5A), mRNA.	515					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						ACTGGCACCCCGGGCCCCTTG	0.721													46	66					0	0	1	0	0	T	97217809	C	T	97217809	3	4	117	1	0	0	0	0	1	0	0	0	921	652	23	2	1570	2	ARID5A	2	97217809	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08		97217809	145981564	4	5265											
TTN	7273	broad.mit.edu	37	chr2	179517223	179517223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggctttttaggaggagccGctggcactttcttttcagga	7	13	12	9	1	2	0	1	0	1	0	2	3	2	3	1	5	1	3	1	5	1	6			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr2:179517223G>A	uc021vsy.1	-	155	32012	c.31787C>T	c.(31786-31788)gCg>gTg	p.A10596V	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_5'Flank|TTN_uc002umx.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11523	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGAGGAGCCGCTGGCACTTT	0.378													11	178					0	0	1	0	0	A	179517223	G	A	179517223	3	1	117	1	0	0	0	0	1	0	0	0	16732	1087	38	1	68826	1	TTN	2	179517223	Missense_Mutation	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	82299414	179517223	63682150	5	5266											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								29	29					0	0	1	0	0	T	209113112	C	T	209113112	3	4	117	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	29595889	209113112	34086261	6	5267											
NEU4	129807	broad.mit.edu	37	chr2	242755717	242755717	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accccttcacggacagtgctCttcgagcgggagaggacggg	8	6	15	12	4	2	1	1	0	1	1	3	5	2	3	2	4	2	1	2	4	0	2			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr2:242755717C>T	uc002wcp.2	+	1	569	c.75C>T	c.(73-75)ctC>ctT	p.L25L	NEU4_uc010fzr.3_Silent_p.L12L|NEU4_uc002wcm.3_Silent_p.L12L|NEU4_uc002wco.2_Silent_p.L12L|NEU4_uc002wcn.2_Silent_p.L24L	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN	Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.	12						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GGACAGTGCTCTTCGAGCGGG	0.697													9	44					0	0	1	0	0	T	242755717	C	T	242755717	2	4	117	1	0	0	0	0	0	0	0	1	10344	900	32	3		3	NEU4	2	242755717	Silent	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	33642605	242755717	443656	7	5268											
ACPP	55	broad.mit.edu	37	chr3	132051153	132051153	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatcctactctggcagcccAtcccggtgcacacagttcct	7	10	7	17	1	1	0	0	0	1	0	4	0	4	0	4	2	3	3	4	2	2	3			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr3:132051153A>G	uc010htp.2	+	3	511	c.421A>G	c.(421-423)Atc>Gtc	p.I141V	ACPP_uc003eon.3_Missense_Mutation_p.I141V|ACPP_uc003eop.4_Missense_Mutation_p.I141V	NM_001099	NP_001090	P15309	PPAP_HUMAN	Homo sapiens acid phosphatase, prostate (ACPP), transcript variant 1, mRNA.	141						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						CTGGCAGCCCATCCCGGTGCA	0.507													42	56					0	0	1	0	0	G	132051153	A	G	132051153	3	3	117	1	0	0	0	0	1	0	0	0	167	217	8	3	435	3	ACPP	3	132051153	Missense_Mutation	SNP	A	TCGA-DU-A5TW-01A-11D-A289-08		132051153	65971277	8	5269											
NCK1	4690	broad.mit.edu	37	chr3	136646967	136646967	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctaagtcctggtggcgagttCgaaattccatgaataaaaca	14	10	9	8	2	0	1	0	1	0	0	3	3	2	1	2	2	1	1	2	2	5	4			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr3:136646967C>T	uc003erh.3	+	1	254	c.124C>T	c.(124-126)Cga>Tga	p.R42*	NCK1_uc011bme.2_5'Flank	NM_006153	NP_006144	P16333	NCK1_HUMAN	Homo sapiens NCK adaptor protein 1 (NCK1), transcript variant 1, mRNA.	42	SH3 1.				T cell activation|T cell receptor signaling pathway|axon guidance|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|regulation of translation|signal complex assembly	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						GTGGCGAGTTCGAAATTCCAT	0.393													15	99					0	0	1	0	0	T	136646967	C	T	136646967	4	4	117	1	0	0	0	0	0	1	0	0	10219	876	31	2	126	2	NCK1	3	136646967	Nonsense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	4595814	136646967	61375463	9	5270											
JAKMIP1	152789	broad.mit.edu	37	chr4	6107435	6107435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcctcggtcagcagcgccGtcttgaccttgtcggccgcg	3	8	14	16	7	2	1	1	1	1	0	4	1	2	1	4	2	2	1	4	2	0	2			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr4:6107435G>A	uc010idb.1	-	2	875	c.389C>T	c.(388-390)aCg>aTg	p.T130M	JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.T130M|JAKMIP1_uc003giu.4_Missense_Mutation_p.T130M|JAKMIP1_uc011bwc.2_Intron|JAKMIP1_uc003giv.4_Missense_Mutation_p.T130M|JAKMIP1_uc010ide.3_Missense_Mutation_p.T130M	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	130	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	p.T130T(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAGCAGCGCCGTCTTGACCTT	0.716													3	23					0	0	1	0	0	A	6107435	G	A	6107435	3	1	117	1	0	0	0	0	1	0	0	0	7940	1145	40	1	2257	1	JAKMIP1	4	6107435	Missense_Mutation	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08		6107435	185046841	10	5271											
MUC7	4589	broad.mit.edu	37	chr4	71347104	71347104	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caccagagaccacagctgccCcacccacacctcctgcaact	11	4	5	21	0	0	1	0	0	0	1	1	2	1	1	7	0	4	2	7	0	1	0			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr4:71347104C>T	uc011cat.2	+	3	931	c.643C>T	c.(643-645)Cca>Tca	p.P215S	MUC7_uc011cau.2_Missense_Mutation_p.P215S|MUC7_uc003hfj.3_Missense_Mutation_p.P215S	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	215	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CACAGCTGCCCCACCCACACC	0.597													105	71					0	0	1	0	0	T	71347104	C	T	71347104	3	4	117	1	0	0	0	0	1	0	0	0	9981	623	22	3	649	3	MUC7	4	71347104	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	65239669	71347104	119807172	11	5272											
ANKRD17	26057	broad.mit.edu	37	chr4	74021734	74021734	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctttattttgataatacgaAcctgtgcaagctcatagtat	12	15	7	7	1	1	1	1	1	0	0	1	2	1	1	1	0	4	4	1	0	7	8			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr4:74021734A>G	uc003hgp.3	-	4	969	c.852_splice	c.e4+1	p.Q284_splice	ANKRD17_uc003hgo.3_Splice_Site_p.Q171_splice|ANKRD17_uc003hgq.3_Splice_Site_p.Q284_splice|ANKRD17_uc003hgr.3_Splice_Site_p.Q284_splice|ANKRD17_uc011cbd.1_5'Flank	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	284					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GATAATACGAACCTGTGCAAG	0.353													26	51					0	0	1	0	0	G	74021734	A	G	74021734	5	3	117	1	0	0	0	0	0	0	1	0	646	57	2	3	7081	3	ANKRD17	4	74021734	Splice_Site	SNP	A	TCGA-DU-A5TW-01A-11D-A289-08	2674630	74021734	117132542	12	5273											
ADH1C	126	broad.mit.edu	37	chr4	100260764	100260766	+	RNA	DEL	TCA	TCA	-																															agcgaagcaggtcaaatcctTcatttattttttcaaaaggt																										TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr4:100260764_100260766delTCA	uc021xqi.1	-	7		c.1156_1158delTGA				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GTCAAATCCTTCATTTATTTTTT	0.394													12	57	---	---	---	---						-	100260766	TCA	-	100260764	6	5	117	0	1	1	0	1	0	0	0	0	309	1783	62	0		0	ADH1C	4	100260764	RNA	DEL	TCA	TCGA-DU-A5TW-01A-11D-A289-08	26239030	100260764	90893512	13	5274											
PHF17	79960	broad.mit.edu	37	chr4	129792755	129792755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acctgtgtggtagaagggagGggatggtggtcccagagagc	9	7	19	6	0	0	2	0	0	0	2	1	5	1	4	2	6	1	1	2	6	2	1			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr4:129792755G>A	uc011cgy.2	+	10	2181	c.1867G>A	c.(1867-1869)Ggg>Agg	p.G623R	PHF17_uc003igk.3_Missense_Mutation_p.G623R|PHF17_uc003igl.3_Missense_Mutation_p.G611R	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	Homo sapiens PHD finger protein 17 (PHF17), transcript variant L, mRNA.	623					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TAGAAGGGAGGGGATGGTGGT	0.498													15	68					0	0	1	0	0	A	129792755	G	A	129792755	3	1	117	1	0	0	0	0	1	0	0	0	11828	1232	43	3	1932	3	PHF17	4	129792755	Missense_Mutation	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	29531991	129792755	61361521	14	5275											
ODZ3	55714	broad.mit.edu	37	chr4	183651451	183651451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttacccagaatatggatataCtattacccgccaggacggaa	14	9	8	10	2	0	1	0	0	0	1	0	4	0	4	3	3	3	0	3	3	8	6			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr4:183651451C>T	uc003ivd.1	+	13	2759	c.2684C>T	c.(2683-2685)aCt>aTt	p.T895I	ODZ3_uc003ive.1_Missense_Mutation_p.T301I	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	895					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TATGGATATACTATTACCCGC	0.418													23	48					0	0	1	0	0	T	183651451	C	T	183651451	3	4	117	1	0	0	0	0	1	0	0	0	10836	565	20	3	2738	3	ODZ3	4	183651451	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	53858696	183651451	7502825	15	5276											
DNAH5	1767	broad.mit.edu	37	chr5	13867993	13867993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactaatttattctggacttCgccagcacgtgccagcagct	9	11	9	12	2	1	0	0	0	1	0	2	2	1	1	2	1	4	3	2	1	2	5			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr5:13867993C>T	uc003jfd.2	-	24	3985	c.3943G>A	c.(3943-3945)Gaa>Aaa	p.E1315K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1315	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCTGGACTTCGCCAGCACGT	0.453									Kartagener syndrome				20	79					0	0	1	0	0	T	13867993	C	T	13867993	3	4	117	1	0	0	0	0	1	0	0	0	4604	893	31	2	10151	2	DNAH5	5	13867993	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08		13867993	167047267	16	5277											
NLN	57486	broad.mit.edu	37	chr5	65118664	65118664	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggggatctctggacggcaTggacatgctccacaatttct	8	11	12	10	1	2	0	0	0	2	0	4	3	3	3	1	5	1	2	1	5	1	1	rs149642804	by1000genomes	TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr5:65118664T>C	uc003juf.3	+	12	2214	c.2036T>C	c.(2035-2037)aTg>aCg	p.M679T	NLN_uc010iww.3_Missense_Mutation_p.M356T	NM_020726	NP_065777	Q9BYT8	NEUL_HUMAN	Homo sapiens neurolysin (metallopeptidase M3 family) (NLN), nuclear gene encoding mitochondrial protein, mRNA.	679					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		CTGGACGGCATGGACATGCTC	0.433													70	60					0	0	1	0	0	C	65118664	T	C	65118664	3	2	117	1	0	0	0	0	1	0	0	0	10467	1464	51	3	2086	3	NLN	5	65118664	Missense_Mutation	SNP	T	TCGA-DU-A5TW-01A-11D-A289-08	51250671	65118664	115796596	17	5278											
HSPA9	3313	broad.mit.edu	37	chr5	137906680	137906680	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttcaggatcatcatatcGccggccaatgagacgcttgg	10	10	10	11	3	3	1	3	1	0	1	4	3	3	2	2	3	1	1	2	3	3	4	rs35091799		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr5:137906680G>A	uc003ldf.3	-	3	690	c.379C>T	c.(379-381)Cga>Tga	p.R127*	HSPA9_uc011cyw.2_Nonsense_Mutation_p.R58*	NM_004134	NP_004125	P38646	GRP75_HUMAN	Homo sapiens heat shock 70kDa protein 9 (mortalin) (HSPA9), nuclear gene encoding mitochondrial protein, mRNA.	127			R -> G (in dbSNP:rs35091799).		anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCATCATATCGCCGGCCAATG	0.463													14	127					0	0	1	0	0	A	137906680	G	A	137906680	4	1	117	1	0	0	0	0	0	1	0	0	7417	1095	38	1	1716	1	HSPA9	5	137906680	Nonsense_Mutation	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	72788016	137906680	43008580	18	5279											
RNF8	9025	broad.mit.edu	37	chr6	37339288	37339288	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attttgttttggctttgcagGgtttggagatagcccaagga	8	15	13	5	0	0	1	0	0	0	1	0	3	0	2	1	4	2	4	1	4	2	7			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr6:37339288G>T	uc003onq.4	+	4	1169	c.976_splice	c.e4-1	p.G326_splice	RNF8_uc003onr.4_Splice_Site_p.G326_splice|RNF8_uc011dtx.2_Splice_Site_p.G258_splice	NM_003958	NP_003949	O76064	RNF8_HUMAN	Homo sapiens ring finger protein 8 (RNF8), transcript variant 1, mRNA.	326	Gln-rich.				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GGCTTTGCAGGGTTTGGAGAT	0.468													7	64					1.26484e-09	1.4175e-09	1	1	0	T	37339288	G	T	37339288	5	4	117	1	0	0	0	0	0	0	1	0	13500	1246	43	5	990	5	RNF8	6	37339288	Splice_Site	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08		37339288	133775779	19	5280											
NCF1	653361	broad.mit.edu	37	chr7	74203029	74203029	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggcgcggccgggaccgcaGagccccgggagcccgctcgg	5	1	18	17	7	0	1	0	0	0	1	1	3	0	3	5	5	2	2	5	5	0	0			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr7:74203029G>A	uc003ubb.3	+	9	1102	c.1032G>A	c.(1030-1032)caG>caA	p.Q344Q		NM_000265	NP_000256	P14598	NCF1_HUMAN	Homo sapiens neutrophil cytosolic factor 1 (NCF1), mRNA.	344	Arg/Lys-rich (highly basic).				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	NADPH oxidase complex|cytosol|soluble fraction	GTP binding|GTPase activity|SH3 domain binding|electron carrier activity|phosphatidylinositol binding|superoxide-generating NADPH oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						CGGGACCGCAGAGCCCCGGGA	0.726													5	14					0	0	1	0	0	A	74203029	G	A	74203029	2	1	117	1	0	0	0	0	0	0	0	1	10216	933	33	3		3	NCF1	7	74203029	Silent	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08		74203029	84935634	20	5281											
MUC17	140453	broad.mit.edu	37	chr7	100676715	100676715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacttcatcttctacaactgCggaaggtaccagcatgccaa	12	9	7	13	1	3	0	1	0	2	0	3	1	3	1	2	2	6	2	2	2	5	4			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr7:100676715C>T	uc003uxp.1	+	2	2071	c.2018C>T	c.(2017-2019)gCg>gTg	p.A673V	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	673	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCTACAACTGCGGAAGGTACC	0.502													75	883					0	0	1	0	0	T	100676715	C	T	100676715	3	4	117	1	0	0	0	0	1	0	0	0	9974	768	27	1	2028	1	MUC17	7	100676715	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	26473686	100676715	58461948	21	5282											
LMOD2	442721	broad.mit.edu	37	chr7	123302314	123302314	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaacattgagaacatcaCaacacagacccttacccgct	16	6	5	14	1	1	2	1	1	0	2	1	4	1	2	2	0	5	1	2	0	5	2			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr7:123302314C>A	uc003vky.2	+	1	831	c.674C>A	c.(673-675)aCa>aAa	p.T225K		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	Homo sapiens leiomodin 2 (cardiac) (LMOD2), mRNA.	225						cytoskeleton	actin binding|tropomyosin binding										GAGAACATCACAACACAGACC	0.488													9	70					0.000673444	0.00070603	1	1	0	A	123302314	C	A	123302314	3	1	117	1	0	0	0	0	1	0	0	0	8857	478	17	5	680	5	LMOD2	7	123302314	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	22625599	123302314	35836349	22	5283											
EPPK1	83481	broad.mit.edu	37	chr8	144940844	144940844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctggagcatttcctccGtgattatggctgagctgagg	6	12	14	9	1	0	3	0	3	0	0	3	4	3	4	3	4	2	3	3	4	1	2			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr8:144940844G>A	uc003zaa.1	-	0	6591	c.6578C>T	c.(6577-6579)aCg>aTg	p.T2193M		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2193						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CATTTCCTCCGTGATTATGGC	0.552													86	298					0	0	1	0	0	A	144940844	G	A	144940844	3	1	117	1	0	0	0	0	1	0	0	0	5190	1145	40	1	688	1	EPPK1	8	144940844	Missense_Mutation	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08		144940844	1423178	23	5284											
SVEP1	79987	broad.mit.edu	37	chr9	113170752	113170752	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggtacaaagaacaatcttAcaaacagggaaagagtcatt	18	7	10	6	0	2	2	1	0	1	2	2	3	2	3	0	3	4	1	0	3	7	3			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr9:113170752A>G	uc010mtz.3	-	37	7465	c.7128T>C	c.(7126-7128)tgT>tgC	p.C2376C	SVEP1_uc010mty.3_Silent_p.C302C	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2376	Sushi 16.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.F2376F(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAACAATCTTACAAACAGGGA	0.453													5	39					0	0	1	0	0	G	113170752	A	G	113170752	2	3	117	1	0	0	0	0	0	0	0	1	15417	389	14	3		3	SVEP1	9	113170752	Silent	SNP	A	TCGA-DU-A5TW-01A-11D-A289-08		113170752	28042679	24	5285											
DDX31	64794	broad.mit.edu	37	chr9	135535105	135535105	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgagactaacctgagcccGtctgggatctcacgagagca	12	7	11	11	2	2	3	1	2	2	2	3	6	2	4	2	1	3	1	2	1	2	1			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr9:135535105G>A	uc004cbq.1	-	4	982	c.830C>T	c.(829-831)aCg>aTg	p.T277M	DDX31_uc010mzu.1_Missense_Mutation_p.T277M|DDX31_uc004cbr.1_Missense_Mutation_p.T277M|DDX31_uc004cbs.2_Missense_Mutation_p.T277M	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 (DDX31), transcript variant 1, mRNA.	277	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		ACCTGAGCCCGTCTGGGATCT	0.498													5	17					0	0	1	0	0	A	135535105	G	A	135535105	3	1	117	1	0	0	0	0	1	0	0	0	4356	1145	40	1	1796	1	DDX31	9	135535105	Missense_Mutation	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	22364353	135535105	5678326	25	5286											
IL2RA	3559	broad.mit.edu	37	chr10	6061422	6061422	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactctgttgtaaatatggaCgtctccatggttgcagccat	9	14	9	9	1	2	0	0	0	2	0	3	1	2	1	2	2	3	4	2	2	4	5			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr10:6061422C>T	uc001iiz.2	-	5	915	c.696G>A	c.(694-696)acG>acA	p.T232T	IL2RA_uc009xih.2_Silent_p.T160T|IL2RA_uc001ija.1_Silent_p.T98T	NM_000417	NP_000408	P01589	IL2RA_HUMAN	Homo sapiens interleukin 2 receptor, alpha (IL2RA), mRNA.	232					cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TAAATATGGACGTCTCCATGG	0.468													31	79					0	0	1	0	0	T	6061422	C	T	6061422	2	4	117	1	0	0	0	0	0	0	0	1	7686	523	19	1		1	IL2RA	10	6061422	Silent	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08		6061422	129473325	26	5287											
SUPV3L1	6832	broad.mit.edu	37	chr10	70940084	70940084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctattgtgggctcggctcCcggcggggcgccaggctggc	2	7	17	15	4	0	0	0	0	0	0	2	0	1	0	3	7	0	3	3	7	1	2			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr10:70940084C>T	uc001jpe.1	+	0	92	c.37C>T	c.(37-39)Ccg>Tcg	p.P13S	SUPV3L1_uc010qjd.1_5'UTR	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN	Homo sapiens suppressor of var1, 3-like 1 (S. cerevisiae) (SUPV3L1), mRNA.	13					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGCTCGGCTCCCGGCGGGGCG	0.687													12	73					0	0	1	0	0	T	70940084	C	T	70940084	3	4	117	1	0	0	0	0	1	0	0	0	15399	623	22	3	39	3	SUPV3L1	10	70940084	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	64878662	70940084	64594663	27	5288											
TRUB1	142940	broad.mit.edu	37	chr10	116710901	116710901	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttgaccagtatgttgtcagGgtccaaggtaagaatactga	12	11	12	6	0	1	3	1	2	0	1	2	3	2	3	2	2	1	4	2	2	5	5	rs139774976		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr10:116710901G>T	uc001lcd.3	+	2	495	c.434G>T	c.(433-435)gGg>gTg	p.G145V	TRUB1_uc010qsl.2_Missense_Mutation_p.G47V	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN	Homo sapiens TruB pseudouridine (psi) synthase homolog 1 (E. coli) (TRUB1), mRNA.	145					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		ATGTTGTCAGGGTCCAAGGTA	0.299													17	80					2.94398e-08	3.24337e-08	1	1	0	T	116710901	G	T	116710901	3	4	117	1	0	0	0	0	1	0	0	0	16599	1232	43	5	444	5	TRUB1	10	116710901	Missense_Mutation	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	45770817	116710901	18823846	28	5289											
TEAD1	7003	broad.mit.edu	37	chr11	12886385	12886385	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcccttcccctaccctgcagGtgtctagtcacattcaggtt	6	13	7	15	0	3	0	2	0	1	0	5	0	5	0	4	2	2	2	4	2	2	5			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr11:12886385G>A	uc021qdx.1	+	5	888	c.268_splice	c.e5-1	p.V90_splice	TEAD1_uc009ygk.3_Non-coding_Transcript	NM_021961	NP_068780	P28347	TEAD1_HUMAN	Homo sapiens TEA domain family member 1 (SV40 transcriptional enhancer factor) (TEAD1), mRNA.	90					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TACCCTGCAGGTGTCTAGTCA	0.478													8	102					0	0	1	0	0	A	12886385	G	A	12886385	5	1	117	1	0	0	0	0	0	0	1	0	15735	1275	44	3	278	3	TEAD1	11	12886385	Splice_Site	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08		12886385	122120131	29	5290											
ACCS	84680	broad.mit.edu	37	chr11	44089249	44089249	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccacctgcatgcaggacctGggcagtagccatggggaaga	10	5	14	12	0	0	1	0	0	0	1	0	3	0	3	4	4	3	4	4	4	2	1			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr11:44089249G>T	uc009yks.1	+	1	216	c.72G>T	c.(70-72)ctG>ctT	p.L24L	ACCS_uc010rfm.1_5'UTR|ACCS_uc010rfn.2_Silent_p.L24L|ACCS_uc001mxx.2_Silent_p.L24L	NM_001127219	NP_115981	Q96QU6	1A1L1_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) (ACCS), transcript variant 2, mRNA.	24							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TGCAGGACCTGGGCAGTAGCC	0.567													19	69					3.99206e-14	4.55235e-14	1	1	0	T	44089249	G	T	44089249	2	4	117	1	0	0	0	0	0	0	0	1	133	1335	47	5		5	ACCS	11	44089249	Silent	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	31202864	44089249	90917267	30	5291											
CHST1	8534	broad.mit.edu	37	chr11	45672219	45672219	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcaaacaggtagaagacGtccaggtgctggttgaagag	12	7	15	7	1	1	4	1	1	0	3	2	4	2	4	1	4	2	4	1	4	4	2			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr11:45672219G>A	uc021qgn.1	-	0	255	c.255C>T	c.(253-255)gaC>gaT	p.D85D	CHST1_uc001mys.2_Silent_p.D85D	NM_003654	NP_003645	O43916	CHST1_HUMAN	Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA.	85					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GGTAGAAGACGTCCAGGTGCT	0.642													22	100					0	0	1	0	0	A	45672219	G	A	45672219	2	1	117	1	0	0	0	0	0	0	0	1	3397	1136	40	1		1	CHST1	11	45672219	Silent	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	1582970	45672219	89334297	31	5292											
VEGFB	7423	broad.mit.edu	37	chr11	64005040	64005040	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaccaccagcgccctgAcccccggacctgccgctgcc	6	3	9	23	3	0	1	0	1	0	0	0	2	0	2	9	1	4	2	9	1	0	0			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr11:64005040A>C	uc001nyw.3	+	5	809	c.559A>C	c.(559-561)Acc>Ccc	p.T187P	VEGFB_uc001nyx.3_Missense_Mutation_p.D153A	NM_003377	NP_003368	P49765	VEGFB_HUMAN	Homo sapiens vascular endothelial growth factor B (VEGFB), transcript variant VEGFB-186, mRNA.	187					anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6						CAGCGCCCTGACCCCCGGACC	0.706													9	20					0	0	1	0	0	C	64005040	A	C	64005040	3	2	117	1	0	0	0	0	1	0	0	0	17148	275	10	5	581	5	VEGFB	11	64005040	Missense_Mutation	SNP	A	TCGA-DU-A5TW-01A-11D-A289-08	18332821	64005040	71001476	32	5293											
ATG2A	23130	broad.mit.edu	37	chr11	64684532	64684532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcttggaagaagtgacCtaagtagtggtgcagcaagt	11	10	14	6	0	1	2	0	1	1	1	1	3	1	3	1	2	3	4	1	2	5	3			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr11:64684532C>T	uc001obx.3	-	0	191	c.76G>A	c.(76-78)Ggt>Agt	p.G26S	ATG2A_uc010rnt.1_Missense_Mutation_p.G26S	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	26							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						AAGAAGTGACCTAAGTAGTGG	0.597													10	73					0	0	1	0	0	T	64684532	C	T	64684532	3	4	117	1	0	0	0	0	1	0	0	0	1093	681	24	3	5904	3	ATG2A	11	64684532	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	679492	64684532	70321984	33	5294											
SLCO1B3	28234	broad.mit.edu	37	chr12	21030809	21030809	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttattggttcttttacttaCgtctttaaatatatggagca	10	20	6	5	1	2	0	0	0	2	0	2	1	2	1	0	2	3	2	0	2	7	11	rs145036538		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr12:21030809C>T	uc010sil.2	+	7	1139	c.1074C>T	c.(1072-1074)taC>taT	p.Y358Y	SLCO1B3_uc001rek.3_Silent_p.Y358Y|SLCO1B3_uc001rel.3_Silent_p.Y358Y|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	358					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CTTTTACTTACGTCTTTAAAT	0.338													13	51					0	0	1	0	0	T	21030809	C	T	21030809	2	4	117	1	0	0	0	0	0	0	0	1	14724	547	19	1		1	SLCO1B3	12	21030809	Silent	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08		21030809	112821086	34	5295											
NFYB	4801	broad.mit.edu	37	chr12	104517157	104517157	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgttataaaactgatgaaCtcacttacacattcttgaac	15	13	5	8	0	2	3	1	3	1	0	2	4	2	3	0	0	4	1	0	0	6	5			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr12:104517157C>T	uc001tkl.1	-	4	477	c.276G>A	c.(274-276)gaG>gaA	p.E92E		NM_006166	NP_006157	P25208	NFYB_HUMAN	Homo sapiens nuclear transcription factor Y, beta (NFYB), mRNA.	92	B domain.|Subunit association domain (SAD) (By similarity).					CCAAT-binding factor complex	repressing transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						AACTGATGAACTCACTTACAC	0.343													18	21					0	0	1	0	0	T	104517157	C	T	104517157	2	4	117	1	0	0	0	0	0	0	0	1	10390	564	20	3		3	NFYB	12	104517157	Silent	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	83486348	104517157	29334738	35	5296											
TP53	7157	broad.mit.edu	37	chr17	7574034	7574034	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagcgctcacgcccacggatCtgcagcaacagaggaggggg	11	3	15	12	3	2	1	1	0	1	1	2	3	2	3	1	4	4	3	1	4	2	0			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr17:7574034C>G	uc002gim.2	-	10	1188	c.994_splice	c.e10-1	p.I332_splice	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Intron|TP53_uc010cne.1_Intron|TP53_uc010cng.1_Splice_Site|TP53_uc010cnf.1_Splice_Site|TP53_uc002gii.1_Splice_Site_p.I200_splice|TP53_uc010cni.1_Splice_Site|TP53_uc010cnh.1_Splice_Site|TP53_uc002gij.2_Splice_Site_p.I332_splice|DL476313_uc021tpe.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	332	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		I -> V (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(9)|p.0?(8)|p.I332fs*49(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)		GCCCACGGATCTGCAGCAACA	0.512		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)			29	7					0	0	1	0	0	G	7574034	C	G	7574034	5	3	117	1	0	0	0	0	0	0	1	0	16378	927	32	5	196	5	TP53	17	7574034	Splice_Site	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08		7574034	73621176	36	5297											
MYH8	4626	broad.mit.edu	37	chr17	10304026	10304026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttcccgggagaggtcagagCgctgcttctccgctttggct	4	11	14	12	3	2	2	1	0	1	2	4	3	3	2	2	3	2	5	2	3	0	3			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr17:10304026C>T	uc002gmm.2	-	26	3511	c.3416G>A	c.(3415-3417)cGc>cAc	p.R1139H	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1139					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GAGGTCAGAGCGCTGCTTCTC	0.572									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				24	126					0	0	1	0	0	T	10304026	C	T	10304026	3	4	117	1	0	0	0	0	1	0	0	0	10041	768	27	1	2453	1	MYH8	17	10304026	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	2729992	10304026	70891184	37	5298											
EVI2B	2124	broad.mit.edu	37	chr17	29632058	29632058	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttgtggggtttgtttgttActggtagtatctaagataaa	9	19	11	2	0	1	1	0	0	1	1	1	1	1	1	0	3	1	5	0	3	6	9	rs142498190		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr17:29632058A>C	uc010csq.2	-	2	798	c.615T>G	c.(613-615)agT>agG	p.S205R	NF1_uc002hgg.3_Intron|NF1_uc002hgh.3_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.3_Intron|EVI2B_uc002hgk.2_Missense_Mutation_p.S190R|EVI2B_uc021tuk.1_Missense_Mutation_p.S190R	NM_006495	NP_006486	P34910	EVI2B_HUMAN	Homo sapiens ecotropic viral integration site 2B (EVI2B), mRNA.	190						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TTTGTTTGTTACTGGTAGTAT	0.338													11	137					0	0	1	0	0	C	29632058	A	C	29632058	3	2	117	1	0	0	0	0	1	0	0	0	5288	388	14	5	780	5	EVI2B	17	29632058	Missense_Mutation	SNP	A	TCGA-DU-A5TW-01A-11D-A289-08	19328032	29632058	51563152	38	5299											
KATNAL2	83473	broad.mit.edu	37	chr18	44595881	44595882	+	Frame_Shift_Del	DEL	TG	TG	-																															aagactttactggccaaagcTgtggccactgaatgtaaaac																										TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr18:44595881_44595882delTG	uc002lco.3	+	9	896_897	c.702_703delTG	c.(700-705)gctgtgfs	p.A234fs	KATNAL2_uc010dnq.1_Intron	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	Homo sapiens katanin p60 subunit A-like 2 (KATNAL2), mRNA.	306						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						TGGCCAAAGCTGTGGCCACTGA	0.426													11	65	---	---	---	---						-	44595882	TG	-	44595881	7	5	117	1	0	1	0	1	0	0	0	0	7986	1567	55	0	736	0	KATNAL2	18	44595881	Frame_Shift_Del	DEL	TG	TCGA-DU-A5TW-01A-11D-A289-08		44595881	33481367	39	5300											
FBN3	84467	broad.mit.edu	37	chr19	8201077	8201077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatggacagccgtacccaCgcatgcctgcctggtgggcg	6	7	15	13	3	0	0	0	0	0	0	0	2	0	2	4	4	4	2	4	4	1	1			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr19:8201077C>T	uc002mjf.3	-	10	1479	c.1462G>A	c.(1462-1464)Gtg>Atg	p.V488M		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	488	EGF-like 4; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCCGTACCCACGCATGCCTGC	0.667													10	83					0	0	1	0	0	T	8201077	C	T	8201077	3	4	117	1	0	0	0	0	1	0	0	0	5704	536	19	1	7179	1	FBN3	19	8201077	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08		8201077	50927906	40	5301											
MUC16	94025	broad.mit.edu	37	chr19	9046871	9046871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggaattgtcccagaaaccGttgtgctggtttctgcagga	8	12	13	8	1	1	1	0	0	1	1	2	3	2	3	2	3	3	4	2	3	2	3			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr19:9046871G>A	uc002mkp.3	-	4	34964	c.34760C>T	c.(34759-34761)aCg>aTg	p.T11587M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11589	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCAGAAACCGTTGTGCTGGT	0.522													15	54					0	0	1	0	0	A	9046871	G	A	9046871	3	1	117	1	0	0	0	0	1	0	0	0	9973	1145	40	1	9083	1	MUC16	19	9046871	Missense_Mutation	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	845794	9046871	50082112	41	5302											
PRR19	284338	broad.mit.edu	37	chr19	42814703	42814703	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatctggctggtagccacGccaccccctcctcggccctg	5	7	10	19	2	1	0	0	0	1	0	3	0	2	0	6	3	2	3	6	3	1	1			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr19:42814703G>A	uc002oti.3	+	2	1260	c.882G>A	c.(880-882)acG>acA	p.T294T	PRR19_uc002oth.1_3'UTR|PRR19_uc002otj.3_Silent_p.T294T|TMEM145_uc002otk.1_5'Flank	NM_199285	NP_954979	A6NJB7	PRR19_HUMAN	Homo sapiens proline rich 19 (PRR19), mRNA.	294	Pro-rich.									NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				TGGTAGCCACGCCACCCCCTC	0.627													11	165					0	0	1	0	0	A	42814703	G	A	42814703	2	1	117	1	0	0	0	0	0	0	0	1	12591	1074	38	1		1	PRR19	19	42814703	Silent	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	33767832	42814703	16314280	42	5303											
GPR4	2828	broad.mit.edu	37	chr19	46094975	46094975	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcaggtagacgcccagctcGttgcgctgttgcacctggcg	6	9	13	13	4	1	1	1	0	0	1	2	1	1	1	2	2	3	6	2	2	1	3			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr19:46094975G>A	uc002pcm.3	-	1	1095	c.150C>T	c.(148-150)aaC>aaT	p.N50N	OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Silent_p.N50N	NM_005282	NP_005273	P46093	GPR4_HUMAN	Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.	50						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CGCCCAGCTCGTTGCGCTGTT	0.617													15	106					0	0	1	0	0	A	46094975	G	A	46094975	2	1	117	1	0	0	0	0	0	0	0	1	6694	1136	40	1		1	GPR4	19	46094975	Silent	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	3280272	46094975	13034008	43	5304											
CCDC8	83987	broad.mit.edu	37	chr19	46915402	46915402	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaggccagccgggcctcGcccaccccggggcccgccct	3	3	15	20	4	0	0	0	0	0	0	1	1	0	1	8	5	1	0	8	5	0	0			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr19:46915402G>A	uc002pep.3	-	0	1518	c.666C>T	c.(664-666)ggC>ggT	p.G222G		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.	222						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GCCGGGCCTCGCCCACCCCGG	0.701													8	32					0	0	1	0	0	A	46915402	G	A	46915402	2	1	117	1	0	0	0	0	0	0	0	1	2853	1074	38	1		1	CCDC8	19	46915402	Silent	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	820427	46915402	12213581	44	5305											
CPT1C	126129	broad.mit.edu	37	chr19	50203968	50203968	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caacaccacgggctccggggGgtcctggcagccgcgctgtt	5	6	15	15	4	0	0	0	0	0	0	2	0	2	0	4	5	2	4	4	5	1	1	rs141969670		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr19:50203968G>A	uc010eng.3	+	4	625	c.309G>A	c.(307-309)ggG>ggA	p.G103G	CPT1C_uc002ppl.4_Silent_p.G103G|CPT1C_uc002ppi.3_Silent_p.G20G|CPT1C_uc002ppk.3_Silent_p.G103G|CPT1C_uc010enh.3_Silent_p.G103G|CPT1C_uc002ppj.3_Silent_p.G103G|CPT1C_uc010ybc.1_Intron	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	103					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GGCTCCGGGGGGTCCTGGCAG	0.662													18	178					0	0	1	0	0	A	50203968	G	A	50203968	2	1	117	1	0	0	0	0	0	0	0	1	3833	1219	43	3		3	CPT1C	19	50203968	Silent	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	3288566	50203968	8925015	45	5306											
NLRP2	55655	broad.mit.edu	37	chr19	55501464	55501464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtcaaccagtccctgaCgtgcgtaaacctctccgaca	11	8	8	14	3	2	2	1	2	1	0	4	3	3	2	4	0	3	1	4	0	4	1			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr19:55501464C>T	uc021vbq.1	+	8	2552	c.2441C>T	c.(2440-2442)aCg>aTg	p.T814M	NLRP2_uc010yfp.2_Missense_Mutation_p.T791M|NLRP2_uc002qij.3_Missense_Mutation_p.T814M|NLRP2_uc010esp.3_Missense_Mutation_p.T792M|NLRP2_uc010esn.3_Missense_Mutation_p.T790M|NLRP2_uc010eso.3_Missense_Mutation_p.T811M	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	814					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CAGTCCCTGACGTGCGTAAAC	0.517													46	52					0	0	1	0	0	T	55501464	C	T	55501464	3	4	117	1	0	0	0	0	1	0	0	0	10477	536	19	1	2471	1	NLRP2	19	55501464	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	5297496	55501464	3627519	46	5307											
SGK2	10110	broad.mit.edu	37	chr20	42204987	42204987	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagccttctccacaaggacCagaggcagcggctgggctcc	10	5	12	14	1	1	1	0	0	1	1	3	2	2	2	4	4	2	3	4	4	2	1			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr20:42204987C>G	uc002xkv.3	+	9	1216	c.997C>G	c.(997-999)Cag>Gag	p.Q333E	SGK2_uc002xkr.3_Missense_Mutation_p.Q273E|SGK2_uc010ggm.3_Missense_Mutation_p.Q273E|SGK2_uc002xkt.3_Non-coding_Transcript|SGK2_uc002xku.3_Missense_Mutation_p.Q273E	NM_016276	NP_733794	Q9HBY8	SGK2_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 2 (SGK2), transcript variant 2, mRNA.	333	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCACAAGGACCAGAGGCAGCG	0.607													6	99					0	0	1	0	0	G	42204987	C	G	42204987	3	3	117	1	0	0	0	0	1	0	0	0	14209	595	21	5	1035	5	SGK2	20	42204987	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08		42204987	20820533	47	5308											
DDX27	55661	broad.mit.edu	37	chr20	47835985	47835985	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaagtggcttctgcgacaaCatgcttgcggacctcggctt	7	10	13	11	3	1	0	0	0	1	0	2	3	1	2	1	4	4	3	1	4	2	3			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr20:47835985C>G	uc002xuh.3	+	0	154	c.93C>G	c.(91-93)aaC>aaG	p.N31K		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), mRNA.	31						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.N31D(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCTGCGACAACATGCTTGCGG	0.602													19	25					0	0	1	0	0	G	47835985	C	G	47835985	3	3	117	1	0	0	0	0	1	0	0	0	4354	477	17	5	95	5	DDX27	20	47835985	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	5630998	47835985	15189535	48	5309											
MGAT3	4248	broad.mit.edu	37	chr22	39884655	39884655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacttcaagctcgtgtccGcccagaatggcgacttccca	8	10	8	15	3	2	1	1	0	1	1	5	2	4	1	3	1	2	1	3	1	3	3			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr22:39884655G>A	uc003axv.4	+	1	1542	c.1303G>A	c.(1303-1305)Gcc>Acc	p.A435T	MGAT3_uc010gxy.3_Missense_Mutation_p.A435T	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.	435					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GCTCGTGTCCGCCCAGAATGG	0.662													23	38					0	0	1	0	0	A	39884655	G	A	39884655	3	1	117	1	0	0	0	0	1	0	0	0	9544	1087	38	1	1305	1	MGAT3	22	39884655	Missense_Mutation	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08		39884655	11419911	49	5310											
DMD	1756	broad.mit.edu	37	chrX	32867885	32867885	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcgaggaggtctaggaggCgcctcccatcctgtaggtca	7	9	13	12	2	2	0	1	0	1	0	5	3	4	2	3	5	0	1	3	5	2	3			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chrX:32867885C>T	uc004dda.1	-	2	390	c.146G>A	c.(145-147)cGc>cAc	p.R49H	DMD_uc004dcz.2_5'UTR|DMD_uc004dcy.1_Missense_Mutation_p.R45H|DMD_uc004ddb.1_Missense_Mutation_p.R41H|DMD_uc010ngo.1_Intron|DMD_uc004ddf.3_Missense_Mutation_p.R41H|DMD_uc010ngq.1_Non-coding_Transcript|DMD_uc010ngr.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	49	Actin-binding.|CH 1.		Missing (in BMD).		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTCTAGGAGGCGCCTCCCATC	0.393													8	64					0	0	1	0	0	T	32867885	C	T	32867885	3	4	117	1	0	0	0	0	1	0	0	0	4580	768	27	1	11462	1	DMD	23	32867885	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08		32867885	122402675	50	5311											
ATRX	546	broad.mit.edu	37	chrX	76937833	76937836	+	Frame_Shift_Del	DEL	TCTT	TCTT	-																															cagaagtttcatcgctctggTctttctttaggaatttctct																										TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chrX:76937833_76937836delTCTT	uc004ecp.4	-	8	3144_3147	c.2912_2915delAAGA	c.(2911-2916)aaagacfs	p.K971fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K933fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K756fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K903fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K942fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K916fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	971					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATCGCTCTGGTCTTTCTTTAGGAA	0.324			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						90	136	---	---	---	---						-	76937836	TCTT	-	76937833	7	5	117	1	0	1	0	1	0	0	0	0	1208	1667	58	0	4671	0	ATRX	23	76937833	Frame_Shift_Del	DEL	TCTT	TCGA-DU-A5TW-01A-11D-A289-08	44069948	76937833	78332727	51	5312											
SYTL4	94121	broad.mit.edu	37	chrX	99956505	99956505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taccattgctttcctgtatgCggcagtcccgacacaccagg	8	10	9	14	2	0	0	0	0	0	0	2	1	2	0	4	2	3	3	4	2	2	4			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chrX:99956505C>T	uc004egd.4	-	4	631	c.275G>A	c.(274-276)cGc>cAc	p.R92H	SYTL4_uc010nnc.3_Missense_Mutation_p.R92H|SYTL4_uc004ege.4_Missense_Mutation_p.R92H|SYTL4_uc004egf.4_Missense_Mutation_p.R92H|SYTL4_uc004egg.4_Missense_Mutation_p.R92H	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	92	RabBD.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTCCTGTATGCGGCAGTCCCG	0.582													60	97					0	0	1	0	0	T	99956505	C	T	99956505	3	4	117	1	0	0	0	0	1	0	0	0	15482	768	27	1	1800	1	SYTL4	23	99956505	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	23018672	99956505	55314055	52	5313											
IL1RAPL2	26280	broad.mit.edu	37	chrX	104984622	104984622	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaagctgacctggcgaattAtacctgccatgttgaaaacc	12	9	10	10	1	0	2	0	2	0	0	0	4	0	3	4	2	4	2	4	2	6	3			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chrX:104984622A>G	uc004elz.1	+	7	1742	c.986A>G	c.(985-987)tAt>tGt	p.Y329C		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	329	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTGGCGAATTATACCTGCCAT	0.393													31	38					0	0	1	0	0	G	104984622	A	G	104984622	3	3	117	1	0	0	0	0	1	0	0	0	7662	449	16	3	1012	3	IL1RAPL2	23	104984622	Missense_Mutation	SNP	A	TCGA-DU-A5TW-01A-11D-A289-08	5028117	104984622	50285938	53	5314											
BRS3	680	broad.mit.edu	37	chrX	135572458	135572458	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaataaaaatatgacatttGaatcatgtacctcttatcct	15	14	3	9	0	2	2	1	2	1	0	3	2	3	2	3	0	1	1	3	0	8	5			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chrX:135572458G>T	uc004ezv.1	+	1	750	c.601G>T	c.(601-603)Gaa>Taa	p.E201*		NM_001727	NP_001718	P32247	BRS3_HUMAN	Homo sapiens bombesin-like receptor 3 (BRS3), mRNA.	201					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TATGACATTTGAATCATGTAC	0.373													5	51					5.9392e-07	6.43413e-07	1	1	0	T	135572458	G	T	135572458	4	4	117	1	0	0	0	0	0	1	0	0	1522	1291	45	5	607	5	BRS3	23	135572458	Nonsense_Mutation	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	30587836	135572458	19698102	54	5315											
RENBP	5973	broad.mit.edu	37	chrX	153208402	153208402	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccccgagctgctccaccaGgttcagtagcatcatgggca	8	8	10	15	1	2	0	2	0	0	0	4	1	4	0	4	2	3	6	4	2	1	2	rs149476338		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chrX:153208402G>T	uc004fjo.2	-	5	762	c.592C>A	c.(592-594)Ctg>Atg	p.L198M	RENBP_uc011mzh.1_Missense_Mutation_p.L198M	NM_002910	NP_002901	P51606	RENBP_HUMAN	Homo sapiens renin binding protein (RENBP), mRNA.	198	Leucine-zipper.				mannose metabolic process|regulation of blood pressure		N-acylglucosamine 2-epimerase activity|endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	TGCTCCACCAGGTTCAGTAGC	0.701													13	166					0.00244969	0.00252746	1	1	0	T	153208402	G	T	153208402	3	4	117	1	0	0	0	0	1	0	0	0	13225	991	35	5	715	5	RENBP	23	153208402	Missense_Mutation	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	17635944	153208402	2062158	55	5316											
OPRD1	4985	broad.mit.edu	37	chr1	29189572	29189572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgacccgctggtggtggctgCgctgcacctgtgcatcgcgc	3	8	15	15	5	0	0	0	0	0	0	1	1	0	0	2	3	3	5	2	3	0	0			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:29189572C>T	uc001brf.1	+	2	1138	c.896C>T	c.(895-897)gCg>gTg	p.A299V		NM_000911	NP_000902	P41143	OPRD_HUMAN	Homo sapiens opioid receptor, delta 1 (OPRD1), mRNA.	299					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	GTGGTGGCTGCGCTGCACCTG	0.642													11	18					0	0	1	0	0	T	29189572	C	T	29189572	3	4	118	1	0	0	0	0	1	0	0	0	10884	768	27	1	906	1	OPRD1	1	29189572	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08		29189572	220061049	1	5317											
ADC	113451	broad.mit.edu	37	chr1	33585652	33585652	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcacccctagggaagcgCtgcgaaggcagctgatggct	8	7	13	13	2	1	1	1	1	1	0	2	3	1	2	2	3	3	4	2	3	3	1			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:33585652C>T	uc009vug.3	+	8	1384	c.1312C>T	c.(1312-1314)Ctg>Ttg	p.L438L	ADC_uc001bwr.3_Silent_p.L418L|ADC_uc001bws.3_Silent_p.L418L|ADC_uc009vue.3_Silent_p.L418L|ADC_uc001bwt.1_3'UTR|ADC_uc001bwu.3_Silent_p.L323L|ADC_uc001bwv.3_Silent_p.L323L|ADC_uc001bwx.1_3'UTR	NM_052998	NP_443724	Q96A70	ADC_HUMAN	Homo sapiens arginine decarboxylase (ADC), mRNA.	418					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	TAGGGAAGCGCTGCGAAGGCA	0.637													24	44					0	0	1	0	0	T	33585652	C	T	33585652	2	4	118	1	0	0	0	0	0	0	0	1	287	796	28	3		3	ADC	1	33585652	Silent	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	4396080	33585652	215664969	2	5318											
KIAA0754	643314	broad.mit.edu	37	chr1	39876700	39876700	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgcaggaatccagattcTcaagtgcaacctggccgagg	12	8	11	10	1	1	1	1	0	1	1	3	3	2	2	3	3	3	2	3	3	4	2			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:39876700T>C	uc009vvt.1	+	0	1525	c.763T>C	c.(763-765)Tca>Cca	p.S255P	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	Homo sapiens KIAA0754 (KIAA0754), mRNA.	119										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATCCAGATTCTCAAGTGCAAC	0.512											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	28					0	0	1	0	0	C	39876700	T	C	39876700	3	2	118	1	0	0	0	0	1	0	0	0	8192	1551	54	4	765	4	KIAA0754	1	39876700	Missense_Mutation	SNP	T	TCGA-DU-A5TY-01A-11D-A289-08	6291048	39876700	209373921	3	5319											
ASB17	127247	broad.mit.edu	37	chr1	76397738	76397738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttaaaacttacttcaaaaCggtatcctgatttttccaca	13	14	5	9	1	1	1	1	1	0	0	3	1	3	1	2	2	3	2	2	2	6	6	rs148576874		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:76397738C>T	uc001dhe.2	-	0	379	c.239G>A	c.(238-240)cGt>cAt	p.R80H	ASB17_uc001dhf.2_Non-coding_Transcript	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 17 (ASB17), transcript variant 1, mRNA.	80					intracellular signal transduction			p.Y79C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						TACTTCAAAACGGTATCCTGA	0.373													17	37					0	0	1	0	0	T	76397738	C	T	76397738	3	4	118	1	0	0	0	0	1	0	0	0	1021	536	19	1	660	1	ASB17	1	76397738	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	36521038	76397738	172852883	4	5320											
AMIGO1	57463	broad.mit.edu	37	chr1	110050353	110050353	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggcaccagcagcggcaaggGgtgaggtataggtatatgag	11	6	17	7	2	0	2	0	2	0	0	0	2	0	2	1	6	2	5	1	6	5	4			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:110050353G>A	uc021org.1	-	0	1182	c.1182C>T	c.(1180-1182)acC>acT	p.T394T	AMIGO1_uc001dxx.4_Silent_p.T394T	NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 1 (AMIGO1), mRNA.	394					axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		AGCGGCAAGGGGTGAGGTATA	0.547													23	54					0	0	1	0	0	A	110050353	G	A	110050353	2	1	118	1	0	0	0	0	0	0	0	1	575	1219	43	3		3	AMIGO1	1	110050353	Silent	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	33652615	110050353	139200268	5	5321											
ANXA9	8416	broad.mit.edu	37	chr1	150957082	150957082	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcagattctgctgtggaCgtggccattgaaattcttgc	7	13	11	10	1	3	2	1	1	2	1	3	3	3	3	2	2	2	1	2	2	1	4			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:150957082C>T	uc001ewa.2	+	6	872	c.402C>T	c.(400-402)gaC>gaT	p.D134D		NM_003568	NP_003559	O76027	ANXA9_HUMAN	Homo sapiens annexin A9 (ANXA9), mRNA.	134					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGCTGTGGACGTGGCCATTG	0.542													7	24					0	0	1	0	0	T	150957082	C	T	150957082	2	4	118	1	0	0	0	0	0	0	0	1	725	535	19	1		1	ANXA9	1	150957082	Silent	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	40906729	150957082	98293539	6	5322											
CACNA1E	777	broad.mit.edu	37	chr1	181745306	181745306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcgggactcctccatcctgGggcctcaccacttggacgag	6	8	11	16	2	1	0	1	0	0	0	5	3	4	2	5	4	0	0	5	4	0	1			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:181745306G>A	uc009wxt.3	+	37	5404	c.5209G>A	c.(5209-5211)Ggg>Agg	p.G1737R	CACNA1E_uc001gow.3_Missense_Mutation_p.G1737R|CACNA1E_uc009wxs.3_Missense_Mutation_p.G1718R|CACNA1E_uc001gox.1_Missense_Mutation_p.G963R	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1737					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTCCATCCTGGGGCCTCACCA	0.602													80	123					0	0	1	0	0	A	181745306	G	A	181745306	3	1	118	1	0	0	0	0	1	0	0	0	2542	1232	43	3	5359	3	CACNA1E	1	181745306	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	30788224	181745306	67505315	7	5323											
SMC6	79677	broad.mit.edu	37	chr2	17884529	17884529	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagatttaatatctgggcCgtcttattttcaacctcatt	10	17	6	8	1	4	2	2	1	2	1	4	2	4	2	2	1	1	0	2	1	5	7			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr2:17884529C>T	uc002rco.3	-	18	2333	c.2037G>A	c.(2035-2037)acG>acA	p.T679T	SMC6_uc010exo.3_Silent_p.T679T|SMC6_uc002rcn.3_Silent_p.T679T|SMC6_uc002rcp.1_Silent_p.T705T|SMC6_uc002rcq.2_Silent_p.T705T	NM_001142286	NP_078900	Q96SB8	SMC6_HUMAN	Homo sapiens structural maintenance of chromosomes 6 (SMC6), transcript variant 1, mRNA.	679					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATATCTGGGCCGTCTTATTTT	0.313													9	32					0	0	1	0	0	T	17884529	C	T	17884529	2	4	118	1	0	0	0	0	0	0	0	1	14787	639	23	2		2	SMC6	2	17884529	Silent	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08		17884529	225314844	8	5324											
ACVR2A	92	broad.mit.edu	37	chr2	148657327	148657327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacagccacttcaaatccaGttacacctaagccaccctat	13	8	3	17	0	1	0	1	0	0	0	2	0	2	0	6	0	3	1	6	0	4	4			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr2:148657327G>A	uc002twg.3	+	4	657	c.388G>A	c.(388-390)Gtt>Att	p.V130I	ACVR2A_uc010zbn.2_Missense_Mutation_p.V22I|ACVR2A_uc002twh.3_Missense_Mutation_p.V130I	NM_001616	NP_001607	P27037	AVR2A_HUMAN	Homo sapiens activin A receptor, type IIA (ACVR2A), mRNA.	130					BMP signaling pathway|activin receptor signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity	p.V130A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TTCAAATCCAGTTACACCTAA	0.398													133	252					0	0	1	0	0	A	148657327	G	A	148657327	3	1	118	1	0	0	0	0	1	0	0	0	223	1029	36	3	402	3	ACVR2A	2	148657327	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	130772798	148657327	94542046	9	5325											
ZNF385B	151126	broad.mit.edu	37	chr2	180634461	180634461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccttttcttcaaagccccGtagaaaatttgccatattca	11	13	4	13	1	3	1	2	0	1	1	3	1	3	1	5	0	2	1	5	0	5	7	rs146268620		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr2:180634461G>A	uc002unn.4	-	2	626	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.	8						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TCAAAGCCCCGTAGAAAATTT	0.413													20	51					0	0	1	0	0	A	180634461	G	A	180634461	3	1	118	1	0	0	0	0	1	0	0	0	17874	1144	40	1	1454	1	ZNF385B	2	180634461	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	31977134	180634461	62564912	10	5326											
IQCA1	79781	broad.mit.edu	37	chr2	237272426	237272426	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaatgtaatccataccttGaagactgcatgcagcatcat	15	10	7	9	0	1	3	1	1	0	2	2	3	2	3	2	0	4	4	2	0	4	3			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr2:237272426G>A	uc002vwb.2	-	14	1924	c.1890C>T	c.(1888-1890)ttC>ttT	p.F630F	IQCA1_uc002vvz.1_Silent_p.F622F|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Silent_p.F581F	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	622							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TCCATACCTTGAAGACTGCAT	0.448													15	98					0	0	1	0	0	A	237272426	G	A	237272426	2	1	118	1	0	0	0	0	0	0	0	1	7802	1281	45	3		3	IQCA1	2	237272426	Silent	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	56637965	237272426	5926947	11	5327											
C3orf32	51066	broad.mit.edu	37	chr3	8661621	8661621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catacacctggtggtcagtgCcatagatgtagtagacataa	13	10	10	8	0	1	2	1	0	0	2	1	2	1	2	2	2	2	2	2	2	5	5			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr3:8661621C>T	uc011atg.2	-	11	1101	c.1061G>A	c.(1060-1062)gGc>gAc	p.G354D	C3orf32_uc003bqz.3_Missense_Mutation_p.G332D|C3orf32_uc003bqs.1_Non-coding_Transcript|C3orf32_uc003bqt.3_Missense_Mutation_p.G281D|C3orf32_uc003bqu.3_Missense_Mutation_p.G332D|C3orf32_uc003bqv.3_Missense_Mutation_p.G281D|C3orf32_uc003bqx.3_Non-coding_Transcript|C3orf32_uc003bqy.3_Missense_Mutation_p.G332D	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN	Homo sapiens chromosome 3 open reading frame 32 (C3orf32), mRNA.	332										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	14						GTGGTCAGTGCCATAGATGTA	0.507													24	55					0	0	1	0	0	T	8661621	C	T	8661621	3	4	118	1	0	0	0	0	1	0	0	0	2222	739	26	3	70	3	C3orf32	3	8661621	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08		8661621	189360809	12	5328											
C3orf37	56941	broad.mit.edu	37	chr3	129023473	129023473	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agccagaggatgttgcagtgGttggccacaaagtcacccaa	12	7	12	10	0	1	1	1	0	0	1	1	2	1	2	3	3	2	3	3	3	2	2			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr3:129023473G>T	uc003elt.3	+	6	958	c.870G>T	c.(868-870)tgG>tgT	p.W290C	C3orf37_uc003elu.3_Missense_Mutation_p.W248C|C3orf37_uc003elv.3_Missense_Mutation_p.W290C|C3orf37_uc003elw.3_Missense_Mutation_p.W290C	NM_020187	NP_064572	Q96FZ2	CC037_HUMAN	Homo sapiens chromosome 3 open reading frame 37 (C3orf37), transcript variant 2, mRNA.	290								p.Q289*(1)		breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)|urinary_tract(4)	14						TGTTGCAGTGGTTGGCCACAA	0.488													45	85					3.4345e-17	3.63653e-17	1	1	0	T	129023473	G	T	129023473	3	4	118	1	0	0	0	0	1	0	0	0	2227	1270	44	5	892	5	C3orf37	3	129023473	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	120361852	129023473	68998957	13	5329											
RAP2B	5912	broad.mit.edu	37	chr3	152880516	152880516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagtggtggtgctgggctcgGgcggcgtgggcaagtccgcg	4	7	21	9	5	0	0	0	0	0	0	2	0	1	0	1	6	1	3	1	6	2	0			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr3:152880516G>A	uc003ezr.3	+	0	488	c.34G>A	c.(34-36)Ggc>Agc	p.G12S		NM_002886	NP_002877	P61225	RAP2B_HUMAN	Homo sapiens RAP2B, member of RAS oncogene family (RAP2B), mRNA.	12					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GCTGGGCTCGGGCGGCGTGGG	0.667													26	29					0	0	1	0	0	A	152880516	G	A	152880516	3	1	118	1	0	0	0	0	1	0	0	0	13041	1232	43	3	36	3	RAP2B	3	152880516	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	23857043	152880516	45141914	14	5330											
ZNF330	27309	broad.mit.edu	37	chr4	142154882	142154883	+	Frame_Shift_Del	DEL	AT	AT	-																															tctatagcacgctccctgaaAtttggcaggcagactggagg																										TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr4:142154882_142154883delAT	uc003iiq.4	+	9	922_923	c.702_703delAT	c.(700-705)aaatttfs	p.K234fs	ZNF330_uc011chl.2_Frame_Shift_Del_p.K174fs	NM_014487	NP_055302	Q9Y3S2	ZN330_HUMAN	Homo sapiens zinc finger protein 330 (ZNF330), mRNA.	234						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					GCTCCCTGAAATTTGGCAGGCA	0.416													23	35	---	---	---	---						-	142154883	AT	-	142154882	7	5	118	1	0	1	0	1	0	0	0	0	17845	98	4	0	736	0	ZNF330	4	142154882	Frame_Shift_Del	DEL	AT	TCGA-DU-A5TY-01A-11D-A289-08		142154882	48999394	15	5331											
CYP4V2	285440	broad.mit.edu	37	chr4	187118127	187118127	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcgctccaggagaaagatGttaacacccactttccattt	11	11	8	11	1	0	2	0	0	0	2	2	3	2	2	3	2	1	2	3	2	2	3			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr4:187118127G>T	uc003iyw.4	+	3	751	c.447G>T	c.(445-447)atG>atT	p.M149I		NM_207352	NP_997235	Q6ZWL3	CP4V2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily V, polypeptide 2 (CYP4V2), mRNA.	149					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		GGAGAAAGATGTTAACACCCA	0.323													5	43					0.0215528	0.0215528	1	1	0	T	187118127	G	T	187118127	3	4	118	1	0	0	0	0	1	0	0	0	4192	1377	48	5	461	5	CYP4V2	4	187118127	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	44963245	187118127	4036149	16	5332											
PLEKHG4B	153478	broad.mit.edu	37	chr5	161988	161988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaaggggcctgagcgccGtggtcagccaggctgagtgc	7	6	17	11	2	2	3	2	2	0	1	2	3	2	3	3	4	3	1	3	4	1	0			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr5:161988G>A	uc003jak.2	+	9	1560	c.1510G>A	c.(1510-1512)Gtg>Atg	p.V504M		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	504					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CCTGAGCGCCGTGGTCAGCCA	0.617													28	50					0	0	1	0	0	A	161988	G	A	161988	3	1	118	1	0	0	0	0	1	0	0	0	12072	1145	40	1	1548	1	PLEKHG4B	5	161988	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08		161988	180753272	17	5333											
CDH18	1016	broad.mit.edu	37	chr5	19838956	19838956	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttttgggacgatgatggActtcggtttcaccttcaatg	7	14	10	10	2	2	1	2	1	0	0	3	4	2	3	2	3	0	1	2	3	1	5			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr5:19838956A>G	uc003jgd.3	-	2	674	c.140T>C	c.(139-141)gTc>gCc	p.V47A	CDH18_uc011cnm.2_Missense_Mutation_p.V47A|CDH18_uc003jgc.3_Missense_Mutation_p.V47A|CDH18_uc021xwu.1_Missense_Mutation_p.V47A	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	47					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ACGATGATGGACTTCGGTTTC	0.433													13	30					0	0	1	0	0	G	19838956	A	G	19838956	3	3	118	1	0	0	0	0	1	0	0	0	3103	275	10	3	2276	3	CDH18	5	19838956	Missense_Mutation	SNP	A	TCGA-DU-A5TY-01A-11D-A289-08	19676968	19838956	161076304	18	5334											
NNT	23530	broad.mit.edu	37	chr5	43613179	43613179	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcagatgatcactatagAgtggcaggtgcccaaatcca	12	10	9	10	0	2	3	2	1	1	2	4	3	3	3	2	2	1	1	2	2	3	3			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr5:43613179A>G	uc003joe.3	+	2	576	c.321A>G	c.(319-321)agA>agG	p.R107R	NNT_uc003jof.3_Silent_p.R107R	NM_012343	NP_892022	Q13423	NNTM_HUMAN	Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	107					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	ATCACTATAGAGTGGCAGGTG	0.478													67	80					0	0	1	0	0	G	43613179	A	G	43613179	2	3	118	1	0	0	0	0	0	0	0	1	10510	301	11	4		4	NNT	5	43613179	Silent	SNP	A	TCGA-DU-A5TY-01A-11D-A289-08	23774223	43613179	137302081	19	5335											
F2RL1	2150	broad.mit.edu	37	chr5	76129250	76129250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagaatgctgcgatcttctgCcatggatgaaaactcagaga	13	9	10	9	1	3	3	1	1	2	2	3	6	3	4	1	1	4	1	1	1	3	1			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr5:76129250C>T	uc003keo.3	+	1	993	c.818C>T	c.(817-819)gCc>gTc	p.A273V		NM_005242	NP_005233	P55085	PAR2_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 1 (F2RL1), mRNA.	273					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CGATCTTCTGCCATGGATGAA	0.483													7	144					0	0	1	0	0	T	76129250	C	T	76129250	3	4	118	1	0	0	0	0	1	0	0	0	5344	739	26	3	824	3	F2RL1	5	76129250	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	32516071	76129250	104786010	20	5336											
CUL9	23113	broad.mit.edu	37	chr6	43171720	43171720	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctggtgcagaacatcacctCtcccggtaaccatgctgaca	10	8	8	15	1	2	2	1	1	1	1	3	2	2	2	4	2	4	3	4	2	2	1			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr6:43171720C>G	uc003ouk.3	+	19	4229	c.4154C>G	c.(4153-4155)tCt>tGt	p.S1385C	CUL9_uc003oul.3_Missense_Mutation_p.S1385C|CUL9_uc010jyk.3_Missense_Mutation_p.S537C	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	1385					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AACATCACCTCTCCCGGTAAC	0.567													29	57					0	0	1	0	0	G	43171720	C	G	43171720	3	3	118	1	0	0	0	0	1	0	0	0	4061	913	32	5	4228	5	CUL9	6	43171720	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08		43171720	127943347	21	5337											
OGFRL1	79627	broad.mit.edu	37	chr6	72011297	72011297	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagctcctgcggttcgccCagaaacactacacgccttca	11	7	8	15	3	1	1	1	0	0	1	3	2	2	1	3	1	4	2	3	1	3	3			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr6:72011297C>T	uc003pfx.1	+	6	1064	c.901C>T	c.(901-903)Cag>Tag	p.Q301*		NM_024576	NP_078852	Q5TC84	OGRL1_HUMAN	Homo sapiens opioid growth factor receptor-like 1 (OGFRL1), mRNA.	301						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						GCGGTTCGCCCAGAAACACTA	0.463													27	61					0	0	1	0	0	T	72011297	C	T	72011297	4	4	118	1	0	0	0	0	0	1	0	0	10844	595	21	3	927	3	OGFRL1	6	72011297	Nonsense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	28839577	72011297	99103770	22	5338											
FRK	2444	broad.mit.edu	37	chr6	116277768	116277768	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggaagtcatttggatccaTtgaacctgaaacaagaagag	16	8	10	7	0	1	4	1	2	0	2	2	6	2	6	2	2	2	0	2	2	5	2			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr6:116277768T>C	uc003pwi.1	-	4	1252	c.805A>G	c.(805-807)Atg>Gtg	p.M269V		NM_002031	NP_002022	P42685	FRK_HUMAN	Homo sapiens fyn-related kinase (FRK), mRNA.	269	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.M269I(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		TTTGGATCCATTGAACCTGAA	0.428													36	46					0	0	1	0	0	C	116277768	T	C	116277768	3	2	118	1	0	0	0	0	1	0	0	0	6048	1493	52	3	728	3	FRK	6	116277768	Missense_Mutation	SNP	T	TCGA-DU-A5TY-01A-11D-A289-08	44266471	116277768	54837299	23	5339											
NPY	4852	broad.mit.edu	37	chr7	24329163	24329163	+	Silent	SNP	G	G	A																															acactgatttcagacctcttGatgagagaaagcacagaaaa																										TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:24329163G>A	uc003sww.2	+	2	322	c.234G>A	c.(232-234)ttG>ttA	p.L78L		NM_000905	NP_000896	P01303	NPY_HUMAN	Homo sapiens neuropeptide Y (NPY), mRNA.	78					G-protein signaling, coupled to cyclic nucleotide second messenger|adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	G-protein coupled receptor activity|calcium channel regulator activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CAGACCTCTTGATGAGAGAAA	0.438													257	304					0	0	1	0	0	A	24329163	G	A	24329163	2	1	118	1	0	0	0	0	0	0	0	1	10607	1281	45	3		3	NPY	7	24329163	Silent	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08		24329163	134809500	24	5340	21	2									
NPY	4852	broad.mit.edu	37	chr7	24329168	24329168	+	Missense_Mutation	SNP	G	G	A																															gatttcagacctcttgatgaGagaaagcacagaaaatgttc																										TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:24329168G>A	uc003sww.2	+	2	327	c.239G>A	c.(238-240)aGa>aAa	p.R80K		NM_000905	NP_000896	P01303	NPY_HUMAN	Homo sapiens neuropeptide Y (NPY), mRNA.	80					G-protein signaling, coupled to cyclic nucleotide second messenger|adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	G-protein coupled receptor activity|calcium channel regulator activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CTCTTGATGAGAGAAAGCACA	0.443													258	306					0	0	1	0	0	A	24329168	G	A	24329168	3	1	118	1	0	0	0	0	1	0	0	0	10607	942	33	3	245	3	NPY	7	24329168	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	5	24329168	134809495	25	5341	21	2									
HOXA5	3202	broad.mit.edu	37	chr7	27181573	27181573	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtctctcggagaggcaaaGagcatgtgctatttcaatcc	10	12	10	9	1	2	2	1	0	1	2	5	3	3	2	1	2	2	3	1	2	3	3			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:27181573G>C	uc003syn.2	-	1	755	c.694C>G	c.(694-696)Ctt>Gtt	p.L232V	HOXA-AS3_uc003syr.2_Intron	NM_019102	NP_061975	P20719	HXA5_HUMAN	Homo sapiens homeobox A5 (HOXA5), mRNA.	232					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						GAGAGGCAAAGAGCATGTGCT	0.507											OREG0017911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	48	950					0	0	1	0	0	C	27181573	G	C	27181573	3	2	118	1	0	0	0	0	1	0	0	0	7295	942	33	5	122	5	HOXA5	7	27181573	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	2852405	27181573	131957090	26	5342											
JAZF1	221895	broad.mit.edu	37	chr7	27880436	27880436	+	Missense_Mutation	SNP	C	C	G																															actctctgtggtccaggactCatcgctgtccgactcctcat																										TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:27880436C>G	uc003szn.3	-	3	677	c.436G>C	c.(436-438)Gag>Cag	p.E146Q	JAZF1_uc003szm.3_Missense_Mutation_p.E82Q	NM_175061	NP_778231	Q86VZ6	JAZF1_HUMAN	Homo sapiens JAZF zinc finger 1 (JAZF1), mRNA.	146					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						GTCCAGGACTCATCGCTGTCC	0.577			T	SUZ12	endometrial stromal tumours								85	3462					0	0	1	0	0	G	27880436	C	G	27880436	3	3	118	1	0	0	0	0	1	0	0	0	7946	835	29	5	303	5	JAZF1	7	27880436	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	698863	27880436	131258227	27	5343	22	3									
JAZF1	221895	broad.mit.edu	37	chr7	27880439	27880439	+	Missense_Mutation	SNP	C	C	T																															ctctgtggtccaggactcatCgctgtccgactcctcatagt																										TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:27880439C>T	uc003szn.3	-	3	674	c.433G>A	c.(433-435)Gat>Aat	p.D145N	JAZF1_uc003szm.3_Missense_Mutation_p.D81N	NM_175061	NP_778231	Q86VZ6	JAZF1_HUMAN	Homo sapiens JAZF zinc finger 1 (JAZF1), mRNA.	145					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						CAGGACTCATCGCTGTCCGAC	0.577			T	SUZ12	endometrial stromal tumours								85	3424					0	0	1	0	0	T	27880439	C	T	27880439	3	4	118	1	0	0	0	0	1	0	0	0	7946	884	31	2	306	2	JAZF1	7	27880439	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	3	27880439	131258224	28	5344	22	3									
JAZF1	221895	broad.mit.edu	37	chr7	27880445	27880445	+	Missense_Mutation	SNP	C	C	T																															ggtccaggactcatcgctgtCcgactcctcatagtccacct																										TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:27880445C>T	uc003szn.3	-	3	668	c.427G>A	c.(427-429)Gac>Aac	p.D143N	JAZF1_uc003szm.3_Missense_Mutation_p.D79N	NM_175061	NP_778231	Q86VZ6	JAZF1_HUMAN	Homo sapiens JAZF zinc finger 1 (JAZF1), mRNA.	143					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						TCATCGCTGTCCGACTCCTCA	0.577			T	SUZ12	endometrial stromal tumours								78	3304					0	0	1	0	0	T	27880445	C	T	27880445	3	4	118	1	0	0	0	0	1	0	0	0	7946	855	30	3	312	3	JAZF1	7	27880445	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	6	27880445	131258218	29	5345	22	3									
CPVL	54504	broad.mit.edu	37	chr7	29126156	29126156	+	Frame_Shift_Del	DEL	G	G	-																															aggaaatatctggaaaaactGaattagtgcactgcaaaaag																										TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:29126156delG	uc003szv.3	-	6	672	c.553delC	c.(553-555)cagfs	p.Q185fs	CPVL_uc003szw.3_Frame_Shift_Del_p.Q185fs|CPVL_uc003szx.3_Frame_Shift_Del_p.Q185fs	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	Homo sapiens carboxypeptidase, vitellogenic-like (CPVL), transcript variant 1, mRNA.	185					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TGGAAAAACTGAATTAGTGCA	0.348													8	519	---	---	---	---						-	29126156	G	-	29126156	7	5	118	1	0	1	0	1	0	0	0	0	3835	1299	45	0	905	0	CPVL	7	29126156	Frame_Shift_Del	DEL	G	TCGA-DU-A5TY-01A-11D-A289-08	1245711	29126156	130012507	30	5346											
EGFR	1956	broad.mit.edu	37	chr7	55223582	55223582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgtggggccgacagctatGagatggaggaagacggcgtc	9	6	17	9	3	0	2	0	1	0	2	1	6	0	4	2	5	1	1	2	5	2	1			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:55223582G>A	uc003tqk.3	+	7	1195	c.949G>A	c.(949-951)Gag>Aag	p.E317K	EGFR_uc003tqh.3_Missense_Mutation_p.E317K|EGFR_uc003tqi.3_Missense_Mutation_p.E317K|EGFR_uc003tqj.3_Missense_Mutation_p.E317K|EGFR_uc022adm.1_Missense_Mutation_p.E317K|EGFR_uc010kzg.2_Missense_Mutation_p.E272K|EGFR_uc022adn.1_Missense_Mutation_p.E272K|EGFR_uc011kco.2_Missense_Mutation_p.E264K|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	317					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CGACAGCTATGAGATGGAGGA	0.597		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			79	1220					0	0	1	0	0	A	55223582	G	A	55223582	3	1	118	1	0	0	0	0	1	0	0	0	4967	1291	45	3	979	3	EGFR	7	55223582	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	26097426	55223582	103915081	31	5347			1	10		2	2	13	G		2.48085e-05
EGFR	1956	broad.mit.edu	37	chr7	55223594	55223594	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctatgagatggaggaaGacggcgtccgcaagtgtaag	13	6	15	7	3	0	2	0	1	0	2	1	5	1	4	1	3	1	3	1	3	4	2			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:55223594G>T	uc003tqk.3	+	7	1207	c.961G>T	c.(961-963)Gac>Tac	p.D321Y	EGFR_uc003tqh.3_Missense_Mutation_p.D321Y|EGFR_uc003tqi.3_Missense_Mutation_p.D321Y|EGFR_uc003tqj.3_Missense_Mutation_p.D321Y|EGFR_uc022adm.1_Missense_Mutation_p.D321Y|EGFR_uc010kzg.2_Missense_Mutation_p.D276Y|EGFR_uc022adn.1_Missense_Mutation_p.D276Y|EGFR_uc011kco.2_Missense_Mutation_p.D268Y|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	321					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GATGGAGGAAGACGGCGTCCG	0.602		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			76	1007					2.23044e-30	2.47064e-30	1	1	0	T	55223594	G	T	55223594	3	4	118	1	0	0	0	0	1	0	0	0	4967	942	33	5	991	5	EGFR	7	55223594	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	12	55223594	103915069	32	5348			1	10		2	2	13	G		2.48085e-05
CHCHD2	51142	broad.mit.edu	37	chr7	56170668	56170670	+	In_Frame_Del	DEL	GCT	GCT	-																															tttgatctcatagaggcaagGctgctgctgctgtgctggct																										TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:56170668_56170670delGCT	uc003tsa.3	-	2	416_418	c.335_337delAGC	c.(334-339)cagcct>cct	p.Q112del	PSPH_uc003trj.3_Intron	NM_016139	NP_057223	Q9Y6H1	CHCH2_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2), nuclear gene encoding mitochondrial protein, mRNA.	112	CHCH.					mitochondrion				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TAGAGGCAAGGCTGCTGCTGCTG	0.488													7	650	---	---	---	---						-	56170670	GCT	-	56170668	7	5	118	1	0	1	0	1	0	0	0	0	3316	1203	42	0	126	0	CHCHD2	7	56170668	In_Frame_Del	DEL	GCT	TCGA-DU-A5TY-01A-11D-A289-08	947074	56170668	102967995	33	5349											
FZD9	8326	broad.mit.edu	37	chr7	72849818	72849818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccgcggggcccggaggccGgagggactgctcgctgccag	4	3	20	14	5	0	0	0	0	0	0	1	3	0	3	4	7	2	2	4	7	0	0			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:72849818G>A	uc003tyb.3	+	0	1710	c.1481G>A	c.(1480-1482)cGg>cAg	p.R494Q		NM_003508	NP_003499	O00144	FZD9_HUMAN	Homo sapiens frizzled family receptor 9 (FZD9), mRNA.	494					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CCCGGAGGCCGGAGGGACTGC	0.647													22	163					0	0	1	0	0	A	72849818	G	A	72849818	3	1	118	1	0	0	0	0	1	0	0	0	6137	1116	39	2	1483	2	FZD9	7	72849818	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	16679150	72849818	86288845	34	5350											
PTN	5764	broad.mit.edu	37	chr7	136938315	136938315	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcccgtgtgcccagcccaCagtctccactggtgggcaca	6	7	10	18	1	1	0	0	0	1	0	3	0	2	0	5	2	2	1	5	2	0	0			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:136938315C>T	uc003vtq.2	-	2	548	c.185G>A	c.(184-186)tGt>tAt	p.C62Y		NM_002825	NP_002816	P21246	PTN_HUMAN	Homo sapiens pleiotrophin (PTN), mRNA.	62					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						GCCCAGCCCACAGTCTCCACT	0.498													26	50					0	0	1	0	0	T	136938315	C	T	136938315	3	4	118	1	0	0	0	0	1	0	0	0	12768	478	17	3	333	3	PTN	7	136938315	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	64088497	136938315	22200348	35	5351											
KCNT1	57582	broad.mit.edu	37	chr9	138669222	138669222	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatgaagacgccaaggcctaCgggttcaagaacaagctgat	14	7	11	9	2	1	4	1	2	0	2	1	4	1	4	2	2	3	2	2	2	7	3			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr9:138669222C>T	uc011mdq.2	+	20	2462	c.2388C>T	c.(2386-2388)taC>taT	p.Y796Y	KCNT1_uc011mdr.2_Silent_p.Y623Y|KCNT1_uc010nbf.3_Silent_p.Y751Y|KCNT1_uc004cgo.1_Silent_p.Y545Y	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	796						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCAAGGCCTACGGGTTCAAGA	0.602													23	116					0	0	1	0	0	T	138669222	C	T	138669222	2	4	118	1	0	0	0	0	0	0	0	1	8091	547	19	1		1	KCNT1	9	138669222	Silent	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08		138669222	2544209	36	5352											
PHRF1	57661	broad.mit.edu	37	chr11	592586	592588	+	In_Frame_Del	DEL	GAG	GAG	-																															tggagaacaccaaagcgagcGaggaggaggaggacccgacc																										TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr11:592586_592588delGAG	uc001lqe.3	+	5	663_665	c.532_534delGAG	c.(532-534)gagdel	p.E181del	PHRF1_uc010qwc.2_In_Frame_Del_p.E181del|PHRF1_uc010qwd.2_In_Frame_Del_p.E180del|PHRF1_uc010qwe.2_In_Frame_Del_p.E177del|PHRF1_uc009ybz.1_5'UTR	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	181	Poly-Glu.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CAAAGCGAGCGAGGAGGAGGAGG	0.616													7	207	---	---	---	---						-	592588	GAG	-	592586	7	5	118	1	0	1	0	1	0	0	0	0	11861	1059	37	0	550	0	PHRF1	11	592586	In_Frame_Del	DEL	GAG	TCGA-DU-A5TY-01A-11D-A289-08		592586	134413930	37	5353											
GRM5	2915	broad.mit.edu	37	chr11	88780946	88780946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccaataatgatgtcacccGgcatgtgagccaccaccctc	10	8	7	16	1	1	2	1	2	0	0	3	2	2	2	5	1	1	1	5	1	2	1			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr11:88780946G>A	uc001pcq.3	-	0	295	c.95C>T	c.(94-96)cCg>cTg	p.P32L	GRM5_uc009yvm.3_Missense_Mutation_p.P32L|GRM5_uc009yvn.2_Missense_Mutation_p.P32L	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	32					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.P32Q(3)|p.P32L(2)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GATGTCACCCGGCATGTGAGC	0.502													13	31					0	0	1	0	0	A	88780946	G	A	88780946	3	1	118	1	0	0	0	0	1	0	0	0	6800	1116	39	2	3579	2	GRM5	11	88780946	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	88188360	88780946	46225570	38	5354											
ARID2	196528	broad.mit.edu	37	chr12	46231286	46231286	+	Missense_Mutation	SNP	G	G	A																															ttgtatgtttttcaggcatgGaaattttgggaaatctttgc																										TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:46231286G>A	uc001ros.1	+	9	1126	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	ARID2_uc001ror.3_Missense_Mutation_p.E376K|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_Missense_Mutation_p.E22K|ARID2_uc001rot.1_Missense_Mutation_p.E22K	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	376					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.E376*(2)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTCAGGCATGGAAATTTTGGG	0.303			"N, S, F"		hepatocellular carcinoma								4	69					0	0	1	0	0	A	46231286	G	A	46231286	3	1	118	1	0	0	0	0	1	0	0	0	915	1175	41	3	1164	3	ARID2	12	46231286	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08		46231286	87620609	39	5355	23	2									
ARID2	196528	broad.mit.edu	37	chr12	46231295	46231295	+	Missense_Mutation	SNP	G	G	C																															tttcaggcatggaaattttgGgaaatctttgcaaagcagaa																										TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:46231295G>C	uc001ros.1	+	9	1135	c.1135G>C	c.(1135-1137)Gga>Cga	p.G379R	ARID2_uc001ror.3_Missense_Mutation_p.G379R|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_Missense_Mutation_p.G25R|ARID2_uc001rot.1_Missense_Mutation_p.G25R	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	379					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGAAATTTTGGGAAATCTTTG	0.318			"N, S, F"		hepatocellular carcinoma								4	72					0	0	1	0	0	C	46231295	G	C	46231295	3	2	118	1	0	0	0	0	1	0	0	0	915	1233	43	5	1173	5	ARID2	12	46231295	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	9	46231295	87620600	40	5356	23	2									
KIF5A	3798	broad.mit.edu	37	chr12	57972048	57972048	+	Frame_Shift_Del	DEL	G	G	-																															aaatggagcccgaagacagtGgggggattcactcccaaaag																										TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:57972048delG	uc001sor.1	+	22	2669	c.2461delG	c.(2461-2463)gggfs	p.G821fs	KIF5A_uc010srr.1_Frame_Shift_Del_p.G732fs	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	821					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CGAAGACAGTGGGGGGATTCA	0.502													7	2055	---	---	---	---						-	57972048	G	-	57972048	7	5	118	1	0	1	0	1	0	0	0	0	8305	1348	47	0	2551	0	KIF5A	12	57972048	Frame_Shift_Del	DEL	G	TCGA-DU-A5TY-01A-11D-A289-08	11740753	57972048	75879847	41	5357											
TSFM	10102	broad.mit.edu	37	chr12	58177051	58177052	+	Frame_Shift_Ins	INS	-	-	G																															aagctctggagacttgtggcINSggggacctcaaacaggtgtg																										TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:58177051_58177052insG	uc001sqi.3	+	1	273_274	c.216_217insG	c.(214-219)ggcgggfs	p.G72fs	TSFM_uc021qzq.1_Frame_Shift_Ins_p.G72fs|TSFM_uc001sqh.3_Frame_Shift_Ins_p.G72fs|TSFM_uc010ssf.2_Frame_Shift_Ins_p.G72fs|TSFM_uc010sse.2_5'UTR	NM_005726	NP_005717	P43897	EFTS_HUMAN	Homo sapiens Ts translation elongation factor, mitochondrial (TSFM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	72					regulation of transcription elongation, DNA-dependent	mitochondrion|nucleus	translation elongation factor activity			endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)	8	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					AGACTTGTGGCGGGGACCTCAA	0.569													12	2786	---	---	---	---						G	58177052	-	G	58177051	7	5	118	1	0	1	1	0	0	0	0	0	16612	755	27	0	222	0	TSFM	12	58177051	Frame_Shift_Ins	INS	-	TCGA-DU-A5TY-01A-11D-A289-08	205003	58177051	75674844	42	5358											
AVIL	10677	broad.mit.edu	37	chr12	58204896	58204896	+	Frame_Shift_Del	DEL	C	C	-																															gcttcatcccagaggcgacaCccccctgcttgtagctaagg																										TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:58204896delC	uc001sqj.2	-	3	382	c.353delG	c.(352-354)ggtfs	p.G118fs	AVIL_uc009zqe.2_Frame_Shift_Del_p.G111fs|AVIL_uc001sqk.1_5'Flank|AVIL_uc001sql.4_Frame_Shift_Del_p.G95fs|JA611266_uc021qzr.1_5'Flank	NM_006576	NP_006567	O75366	AVIL_HUMAN	Homo sapiens advillin (AVIL), mRNA.	118	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					AGAGGCGACACCCCCCTGCTT	0.512													7	1043	---	---	---	---						-	58204896	C	-	58204896	7	5	118	1	0	1	0	1	0	0	0	0	1227	507	18	0	2170	0	AVIL	12	58204896	Frame_Shift_Del	DEL	C	TCGA-DU-A5TY-01A-11D-A289-08	27845	58204896	75646999	43	5359											
C12orf56	115749	broad.mit.edu	37	chr12	64746733	64746733	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaatttcctgacactgtttGactttttacactcttttttc	7	20	5	9	0	1	2	0	2	1	0	3	3	2	3	1	1	1	1	1	1	2	8			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:64746733G>C	uc021qzu.1	-	1	356	c.356C>G	c.(355-357)tCa>tGa	p.S119*	BC042855_uc001srx.3_Intron|C12orf56_uc001ssa.4_Nonsense_Mutation_p.S119*	NM_001170633	NP_001164104	Q8IXR9	CL056_HUMAN	Homo sapiens chromosome 12 open reading frame 56 (C12orf56), transcript variant 1, mRNA.	119										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		GACACTGTTTGACTTTTTACA	0.358													9	255					0	0	1	0	0	C	64746733	G	C	64746733	4	2	118	1	0	0	0	0	0	1	0	0	1700	1294	45	5	1560	5	C12orf56	12	64746733	Nonsense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	6541837	64746733	69105162	44	5360											
PTPRR	5801	broad.mit.edu	37	chr12	71094989	71094989	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccttgtgagaattcggctGgctgactgcagatactccat	9	11	11	10	1	0	3	0	2	0	2	2	5	1	3	2	2	2	3	2	2	2	3			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:71094989G>A	uc001swi.2	-	6	1536	c.1122C>T	c.(1120-1122)gcC>gcT	p.A374A	PTPRR_uc001swh.2_Silent_p.A129A|PTPRR_uc009zrs.3_Silent_p.A168A|PTPRR_uc010stq.2_Silent_p.A262A|PTPRR_uc010str.1_Silent_p.A223A	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	374					in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.S373L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GAATTCGGCTGGCTGACTGCA	0.453													287	321					0	0	1	0	0	A	71094989	G	A	71094989	2	1	118	1	0	0	0	0	0	0	0	1	12810	1335	47	3		3	PTPRR	12	71094989	Silent	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	6348256	71094989	62756906	45	5361			2	11		2	2	12	G		2.274115e-05
PTPRR	5801	broad.mit.edu	37	chr12	71095000	71095000	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattcggctggctgactgcaGatactccattgctaccttct	8	13	8	12	1	1	2	0	1	1	1	3	2	2	2	2	2	4	4	2	2	3	5			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:71095000G>A	uc001swi.2	-	6	1525	c.1111C>T	c.(1111-1113)Ctg>Ttg	p.L371L	PTPRR_uc001swh.2_Silent_p.L126L|PTPRR_uc009zrs.3_Silent_p.L165L|PTPRR_uc010stq.2_Silent_p.L259L|PTPRR_uc010str.1_Silent_p.L220L	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	371					in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GCTGACTGCAGATACTCCATT	0.468													278	321					0	0	1	0	0	A	71095000	G	A	71095000	2	1	118	1	0	0	0	0	0	0	0	1	12810	933	33	3		3	PTPRR	12	71095000	Silent	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	11	71095000	62756895	46	5362			2	11		2	2	12	G		2.274115e-05
KSR2	283455	broad.mit.edu	37	chr12	117962802	117962802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctcaatgtcaatcagccGgatggccacctcgccatgcc	8	8	8	17	2	3	0	3	0	1	0	5	1	3	1	6	2	2	0	6	2	2	0			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:117962802G>A	uc001two.2	-	13	2042	c.1987C>T	c.(1987-1989)Cgg>Tgg	p.R663W		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	692					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCAATCAGCCGGATGGCCACC	0.597													14	36					0	0	1	0	0	A	117962802	G	A	117962802	3	1	118	1	0	0	0	0	1	0	0	0	8582	1115	39	2	806	2	KSR2	12	117962802	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	46867802	117962802	15889093	47	5363											
AMN	81693	broad.mit.edu	37	chr14	103396394	103396394	+	Frame_Shift_Del	DEL	G	G	-																															cggagcggggcggctggcccGggccctcctggcggacgtcg																										TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr14:103396394delG	uc001ymg.4	+	8	1010	c.977delG	c.(976-978)cggfs	p.R326fs	AMN_uc001ymh.4_Frame_Shift_Del_p.R272fs	NM_030943	NP_112205	Q9BXJ7	AMNLS_HUMAN	Homo sapiens amnionless homolog (mouse) (AMN), mRNA.	326					lipid metabolic process|lipoprotein metabolic process|multicellular organismal development	integral to membrane|plasma membrane				kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGGCTGGCCCGGGCCCTCCTG	0.761													2	4	---	---	---	---						-	103396394	G	-	103396394	7	5	118	1	0	1	0	1	0	0	0	0	580	1116	39	0	1011	0	AMN	14	103396394	Frame_Shift_Del	DEL	G	TCGA-DU-A5TY-01A-11D-A289-08		103396394	3953146	48	5364											
ISLR2	57611	broad.mit.edu	37	chr15	74426192	74426192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagctgggcgccaactctaCgtcaatacgcgtggcggtgg	7	8	15	11	5	2	1	1	1	1	0	2	1	2	1	1	4	4	1	1	4	4	2			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr15:74426192C>T	uc002axd.3	+	3	1866	c.1097C>T	c.(1096-1098)aCg>aTg	p.T366M	ISLR2_uc002axe.3_Missense_Mutation_p.T366M|ISLR2_uc010bjg.3_Missense_Mutation_p.T366M|ISLR2_uc010bjf.3_Missense_Mutation_p.T366M|ISLR2_uc021sqe.1_Missense_Mutation_p.T366M	NM_001130136	NP_065902	Q6UXK2	ISLR2_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat 2 (ISLR2), transcript variant 1, mRNA.	366	Ig-like.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GCCAACTCTACGTCAATACGC	0.672													14	18					0	0	1	0	0	T	74426192	C	T	74426192	3	4	118	1	0	0	0	0	1	0	0	0	7859	536	19	1	1099	1	ISLR2	15	74426192	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08		74426192	28105200	49	5365											
GNAO1	2775	broad.mit.edu	37	chr16	56377821	56377821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgatgctgtgacggacGtcatcatcgccaaaaacctg	10	11	9	11	3	3	2	2	2	1	0	4	3	3	3	2	1	2	1	2	1	2	1			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr16:56377821G>A	uc002eit.4	+	7	1921	c.1024G>A	c.(1024-1026)Gtc>Atc	p.V342I	GNAO1_uc002eiu.4_Intron	NM_138736	NP_620073	P09471	GNAO_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O (GNAO1), transcript variant 2, mRNA.	342					G-protein signaling, coupled to cAMP nucleotide second messenger|dopamine receptor signaling pathway|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				TGTGACGGACGTCATCATCGC	0.622													22	59					0	0	1	0	0	A	56377821	G	A	56377821	3	1	118	1	0	0	0	0	1	0	0	0	6508	1145	40	1	1054	1	GNAO1	16	56377821	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08		56377821	33976932	50	5366											
DPEP3	64180	broad.mit.edu	37	chr16	68014019	68014019	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccacgagtgggaaactccGcatcagggcctgcgcgcgac	8	5	14	14	5	1	0	1	0	0	0	3	3	3	1	3	2	2	1	3	2	1	0			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr16:68014019G>A	uc002evc.4	-	0	434	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	DPEP3_uc010cex.3_Missense_Mutation_p.R114W	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	Homo sapiens dipeptidase 3 (DPEP3), transcript variant 1, mRNA.	89					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity	p.M113I(1)		breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		GGGAAACTCCGCATCAGGGCC	0.652													6	85					0	0	1	0	0	A	68014019	G	A	68014019	3	1	118	1	0	0	0	0	1	0	0	0	4715	1086	38	1	1241	1	DPEP3	16	68014019	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	11636198	68014019	22340734	51	5367											
KRT24	192666	broad.mit.edu	37	chr17	38857428	38857428	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggtaggctagctcctcGgtgaaactctcaatctgcat	9	11	9	12	1	3	1	2	1	2	0	6	1	4	1	1	3	3	4	1	3	4	2			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr17:38857428G>A	uc002hvd.3	-	2	876	c.819C>T	c.(817-819)acC>acT	p.T273T		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	Homo sapiens keratin 24 (KRT24), mRNA.	273	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CTAGCTCCTCGGTGAAACTCT	0.498													34	64					0	0	1	0	0	A	38857428	G	A	38857428	2	1	118	1	0	0	0	0	0	0	0	1	8461	1103	39	2		2	KRT24	17	38857428	Silent	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08		38857428	42337782	52	5368											
KRTAP1-5	83895	broad.mit.edu	37	chr17	39183089	39183089	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcacagctccactgctgcCctcctggccatagctgatgc	6	9	9	17	0	1	1	1	1	0	0	3	1	3	1	4	1	5	4	4	1	1	1			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr17:39183089C>T	uc002hvu.3	-	0	366	c.319G>A	c.(319-321)Ggc>Agc	p.G107S		NM_031957	NP_114163	Q9BYS1	KRA15_HUMAN	Homo sapiens keratin associated protein 1-5 (KRTAP1-5), mRNA.	107	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			CCACTGCTGCCCTCCTGGCCA	0.637													11	34					0	0	1	0	0	T	39183089	C	T	39183089	3	4	118	1	0	0	0	0	1	0	0	0	8504	623	22	3	209	3	KRTAP1-5	17	39183089	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	325661	39183089	42012121	53	5369											
ANKRD30B	374860	broad.mit.edu	37	chr18	14850277	14850277	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tattaaaagaaaaaattagaCccgaagagcaacttaggaaa	22	7	7	5	1	0	3	0	0	0	3	0	5	0	4	1	1	2	1	1	1	11	4			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr18:14850277C>A	uc010dlo.2	+	34	3283	c.3103C>A	c.(3103-3105)Ccc>Acc	p.P1035T	ANKRD30B_uc021uhy.1_Missense_Mutation_p.P1035T|ANKRD30B_uc010xal.1_Missense_Mutation_p.P177T	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	1120										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AAAAATTAGACCCGAAGAGCA	0.284													7	21					2.0095e-06	2.09687e-06	1	1	0	A	14850277	C	A	14850277	3	1	118	1	0	0	0	0	1	0	0	0	659	507	18	5	3241	5	ANKRD30B	18	14850277	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08		14850277	63226971	54	5370											
DSG1	1828	broad.mit.edu	37	chr18	28923927	28923927	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacaaataccacctgataaCgcaaatataattgaatgcat	18	9	4	10	1	0	2	0	2	0	0	0	2	0	2	3	0	3	2	3	0	7	5			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr18:28923927C>T	uc002kwp.3	+	12	2072	c.1860C>T	c.(1858-1860)aaC>aaT	p.N620N	DSG1_uc010xbp.2_5'UTR	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	620					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CACCTGATAACGCAAATATAA	0.323													7	38					0	0	1	0	0	T	28923927	C	T	28923927	2	4	118	1	0	0	0	0	0	0	0	1	4776	535	19	1		1	DSG1	18	28923927	Silent	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	14073650	28923927	49153321	55	5371											
CCBE1	147372	broad.mit.edu	37	chr18	57136832	57136832	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggagcctcggcacaaacGtcgtaatctgaaaaagcaaa	16	5	10	10	3	1	1	0	1	1	0	3	2	1	2	1	2	3	3	1	2	5	1			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr18:57136832G>A	uc002lib.3	-	3	343	c.273C>T	c.(271-273)gaC>gaT	p.D91D		NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	91					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CGGCACAAACGTCGTAATCTG	0.552													56	181					0	0	1	0	0	A	57136832	G	A	57136832	2	1	118	1	0	0	0	0	0	0	0	1	2731	1136	40	1		1	CCBE1	18	57136832	Silent	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	28212905	57136832	20940416	56	5372											
BTBD2	55643	broad.mit.edu	37	chr19	1987539	1987539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctgtagccccagcgactctCcacctgctggaagcggttga	7	8	12	14	2	1	1	0	1	1	0	2	3	1	2	4	2	4	4	4	2	2	2			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr19:1987539C>T	uc002lup.1	-	5	1141	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	BTBD2_uc002luo.1_Missense_Mutation_p.E60K	NM_017797	NP_060267	Q9BX70	BTBD2_HUMAN	Homo sapiens BTB (POZ) domain containing 2 (BTBD2), mRNA.	381						cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|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)		CAGCGACTCTCCACCTGCTGG	0.667													6	18					0	0	1	0	0	T	1987539	C	T	1987539	3	4	118	1	0	0	0	0	1	0	0	0	1543	864	30	3	452	3	BTBD2	19	1987539	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08		1987539	57141444	57	5373											
SLC5A5	6528	broad.mit.edu	37	chr19	18001745	18001745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattgttgtggtgggacctcGcacggcagacagcatcagtg	8	9	15	9	2	1	1	1	0	0	1	2	3	1	2	1	3	1	4	1	3	0	2			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr19:18001745G>A	uc002nhr.4	+	13	2049	c.1702G>A	c.(1702-1704)Gca>Aca	p.A568T		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA.	568					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	p.A568T(2)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GTGGGACCTCGCACGGCAGAC	0.592													34	163					0	0	1	0	0	A	18001745	G	A	18001745	3	1	118	1	0	0	0	0	1	0	0	0	14668	1087	38	1	1756	1	SLC5A5	19	18001745	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	16014206	18001745	41127238	58	5374											
NAPSA	9476	broad.mit.edu	37	chr19	50864253	50864253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagcccctgctccaccagtaCatccatcgggggccgaactc	8	7	9	17	2	0	0	0	0	0	0	4	1	2	0	6	2	4	2	6	2	3	2			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr19:50864253C>T	uc002prx.3	-	4	666	c.613G>A	c.(613-615)Gta>Ata	p.V205I	NR1H2_uc002prv.4_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	Homo sapiens napsin A aspartic peptidase (NAPSA), mRNA.	205					proteolysis	extracellular region	aspartic-type endopeptidase activity	p.D204N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		TCCACCAGTACATCCATCGGG	0.527													27	68					0	0	1	0	0	T	50864253	C	T	50864253	3	4	118	1	0	0	0	0	1	0	0	0	10166	478	17	3	669	3	NAPSA	19	50864253	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	32862508	50864253	8264730	59	5375											
SSTR4	6754	broad.mit.edu	37	chr20	23016235	23016235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggaggaggcggtggcggggCccggggacgcgcgggcggcg	3	1	26	11	9	0	0	0	0	0	0	0	3	0	3	1	11	0	0	1	11	0	0			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr20:23016235C>T	uc002wsr.2	+	0	179	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S		NM_001052	NP_001043	P31391	SSR4_HUMAN	Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.	39					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGTggcggggcccggggacgc	0.736													28	57					0	0	1	0	0	T	23016235	C	T	23016235	3	4	118	1	0	0	0	0	1	0	0	0	15199	739	26	3	117	3	SSTR4	20	23016235	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08		23016235	40009285	60	5376											
UMODL1	89766	broad.mit.edu	37	chr21	43539224	43539224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcctctttccccgcaggtgCggggctccctgccagccacc	3	7	12	19	2	1	0	0	0	1	0	3	0	3	0	7	4	3	2	7	4	0	1			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr21:43539224C>T	uc002zag.1	+	13	2863	c.2863C>T	c.(2863-2865)Cgg>Tgg	p.R955W	UMODL1_uc002zad.1_Missense_Mutation_p.R755W|UMODL1_uc002zae.1_Missense_Mutation_p.R883W|UMODL1_uc002zaf.1_Missense_Mutation_p.R827W|UMODL1_uc002zal.1_5'Flank	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	827						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCCGCAGGTGCGGGGCTCCCT	0.632													35	137					0	0	1	0	0	T	43539224	C	T	43539224	3	4	118	1	0	0	0	0	1	0	0	0	16977	759	27	1	2917	1	UMODL1	21	43539224	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08		43539224	4590671	61	5377											
SUV39H1	6839	broad.mit.edu	37	chrX	48559033	48559033	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatcgtgtggtacagaaGggtatccgatatgacctctg	11	10	11	9	2	1	2	0	1	1	1	3	3	2	2	3	2	1	2	3	2	5	3			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:48559033G>C	uc004dkn.3	+	2	762	c.717G>C	c.(715-717)aaG>aaC	p.K239N	SUV39H1_uc011mmf.2_Missense_Mutation_p.K250N|SUV39H1_uc011mmg.2_Non-coding_Transcript	NM_003173	NP_003164	O43463	SUV91_HUMAN	Homo sapiens suppressor of variegation 3-9 homolog 1 (Drosophila) (SUV39H1), mRNA.	239	Pre-SET.				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TGGTACAGAAGGGTATCCGAT	0.607													33	53					0	0	1	0	0	C	48559033	G	C	48559033	3	2	118	1	0	0	0	0	1	0	0	0	15409	991	35	5	727	5	SUV39H1	23	48559033	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08		48559033	106711527	62	5378											
SHROOM4	57477	broad.mit.edu	37	chrX	50378311	50378311	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcctgtggacgggatgaCatctgagagctgggggtcag	7	8	16	10	1	2	2	1	2	1	1	3	5	3	4	2	4	1	1	2	4	0	0			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:50378311C>A	uc004dpe.2	-	3	788	c.762G>T	c.(760-762)atG>atT	p.M254I	SHROOM4_uc004dpd.3_Non-coding_Transcript|SHROOM4_uc004dpf.1_Missense_Mutation_p.M138I	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	254					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GACGGGATGACATCTGAGAGC	0.652													6	13					8.12818e-05	8.24267e-05	1	1	0	A	50378311	C	A	50378311	3	1	118	1	0	0	0	0	1	0	0	0	14296	478	17	5	3743	5	SHROOM4	23	50378311	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	1819278	50378311	104892249	63	5379											
HEPH	9843	broad.mit.edu	37	chrX	65414952	65414952	+	Frame_Shift_Del	DEL	G	G	-																															ttttccagggccagtgatccGggctgaggtgggtgacacca																										TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:65414952delG	uc011moz.2	+	8	1681	c.1544delG	c.(1543-1545)cggfs	p.R515fs	HEPH_uc004dwn.3_Frame_Shift_Del_p.R464fs|HEPH_uc004dwo.3_Frame_Shift_Del_p.R194fs|HEPH_uc010nkr.3_Frame_Shift_Del_p.R464fs|HEPH_uc011mpa.2_Frame_Shift_Del_p.R464fs	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	461	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CCAGTGATCCGGGCTGAGGTG	0.502													25	48	---	---	---	---						-	65414952	G	-	65414952	7	5	118	1	0	1	0	1	0	0	0	0	7054	1116	39	0	1578	0	HEPH	23	65414952	Frame_Shift_Del	DEL	G	TCGA-DU-A5TY-01A-11D-A289-08	15036641	65414952	89855608	64	5380											
RNF128	79589	broad.mit.edu	37	chrX	105937389	105937389	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagagacatgtgaatgtggcGtttatggattagcttcacca	11	13	11	6	1	1	2	1	1	0	1	1	4	1	3	1	2	1	2	1	2	4	5	rs146627932		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:105937389G>A	uc004emk.3	+	0	322	c.157G>A	c.(157-159)Gtt>Att	p.V53I		NM_024539	NP_078815	Q8TEB7	RN128_HUMAN	Homo sapiens ring finger protein 128 (RNF128), transcript variant 2, mRNA.	70						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TGAATGTGGCGTTTATGGATT	0.398													12	117					0	0	1	0	0	A	105937389	G	A	105937389	3	1	118	1	0	0	0	0	1	0	0	0	13436	1145	40	1	159	1	RNF128	23	105937389	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	40522437	105937389	49333171	65	5381											
VSIG1	340547	broad.mit.edu	37	chrX	107316040	107316040	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaacttgagggaagagacatCgtgccagtgaaagaaaactt	17	7	11	6	1	0	4	0	2	0	2	1	6	0	5	1	1	3	0	1	1	5	2			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:107316040C>T	uc011msk.2	+	4	815	c.654C>T	c.(652-654)atC>atT	p.I218I	VSIG1_uc004eno.3_Silent_p.I182I	NM_001170553	NP_001164024	Q86XK7	VSIG1_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 1 (VSIG1), transcript variant 1, mRNA.	182	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GAAGAGACATCGTGCCAGTGA	0.507													33	71					0	0	1	0	0	T	107316040	C	T	107316040	2	4	118	1	0	0	0	0	0	0	0	1	17219	874	31	2		2	VSIG1	23	107316040	Silent	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	1378651	107316040	47954520	66	5382											
RGAG1	57529	broad.mit.edu	37	chrX	109698484	109698484	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagcatggagacccccaaGaaggtcttcatgatcacctt	13	8	9	11	0	3	4	2	1	1	3	3	5	3	4	3	2	1	1	3	2	3	2			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:109698484G>T	uc004eor.2	+	3	4348	c.4102G>T	c.(4102-4104)Gaa>Taa	p.E1368*		NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	1368										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AGACCCCCAAGAAGGTCTTCA	0.468													23	183					2.32416e-17	2.4976e-17	1	1	0	T	109698484	G	T	109698484	4	4	118	1	0	0	0	0	0	1	0	0	13274	943	33	5	4108	5	RGAG1	23	109698484	Nonsense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	2382444	109698484	45572076	67	5383											
SH2D1A	4068	broad.mit.edu	37	chrX	123480556	123480556	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcgagaagctcctgcttGccactgggctggatggcagc	6	7	15	13	2	0	1	0	0	0	1	1	3	1	2	3	4	4	4	3	4	1	1			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:123480556G>T	uc004euf.4	+	0	425	c.64G>T	c.(64-66)Gcc>Tcc	p.A22S	SH2D1A_uc004euh.4_Missense_Mutation_p.A22S|SH2D1A_uc004eug.4_Non-coding_Transcript|SH2D1A_uc010nqw.3_Non-coding_Transcript|SH2D1A_uc004eui.4_Non-coding_Transcript|SH2D1A_uc010nqx.3_Intron	NM_002351	NP_002342	O60880	SH21A_HUMAN	Homo sapiens SH2 domain containing 1A (SH2D1A), transcript variant 1, mRNA.	22	SH2.				cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GCTCCTGCTTGCCACTGGGCT	0.592													33	74					2.46105e-21	2.68478e-21	1	1	0	T	123480556	G	T	123480556	3	4	118	1	0	0	0	0	1	0	0	0	14230	1319	46	5	66	5	SH2D1A	23	123480556	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	13782072	123480556	31790004	68	5384											
MIB2	142678	broad.mit.edu	37	chr1	1563188	1563188	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgggccctgtgtgagcgCggctgtgacgtcaacctgcc	4	8	16	13	4	1	2	1	2	0	0	1	2	1	2	3	2	4	1	3	2	1	0			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:1563188C>T	uc001agg.3	+	12	2049	c.2004C>T	c.(2002-2004)cgC>cgT	p.R668R	MIB2_uc001agh.3_Silent_p.R654R|MIB2_uc001agi.3_Silent_p.R664R|MIB2_uc001agj.3_Silent_p.R452R|MIB2_uc001agk.3_Silent_p.R603R|MIB2_uc001agl.2_Silent_p.R567R|MIB2_uc001agm.3_Silent_p.R488R|MIB2_uc010nyq.2_Silent_p.R567R|MIB2_uc009vkh.3_Silent_p.R417R|MIB2_uc001agn.3_Silent_p.R243R|MIB2_uc001ago.3_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA.	611					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGTGTGAGCGCGGCTGTGACG	0.692													8	12					0	0	0.307466	0	0	T	1563188	C	T	1563188	2	4	119	1	0	0	0	0	0	0	0	1	9567	755	27	1		1	MIB2	1	1563188	Silent	SNP	C	TCGA-E1-5302-01A-01D-1468-08		1563188	247687433	1	5385											
CDK11B	984	broad.mit.edu	37	chr1	1586881	1586881	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttattgtgatctccatgcGgtgatctctcagctccccct	5	14	7	15	1	3	2	1	2	2	0	6	2	4	2	4	1	2	1	4	1	1	2	rs139684849	by1000genomes	TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:1586881G>A	uc001ahc.1	-	2		c.277C>T			CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron			P21127	CD11B_HUMAN	Homo sapiens cell division cycle 2-like 1 (PITSLRE proteins), mRNA (cDNA clone IMAGE:4121554), partial cds.						apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						atctccatgcggtgatctctc	0.463													3	86					0	0	0.115264	0	0	A	1586881	G	A	1586881	1	1	119	0	1	0	0	0	0	0	0	0	3127	1131	39	2		2	CDK11B	1	1586881	RNA	SNP	G	TCGA-E1-5302-01A-01D-1468-08	23693	1586881	247663740	2	5386											
HMGN2	3151	broad.mit.edu	37	chr1	26800580	26800580	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgccaaaaaaagaaacCtgctcctccaaagccagagc	15	6	6	14	0	0	2	0	0	0	2	3	2	3	2	6	0	5	1	6	0	5	1			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:26800580C>A	uc001bmp.4	+	3	297	c.95C>A	c.(94-96)cCt>cAt	p.P32H		NM_005517	NP_005508	P05204	HMGN2_HUMAN	Homo sapiens high mobility group nucleosomal binding domain 2 (HMGN2), mRNA.	32					chromatin organization|regulation of transcription, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding|protein binding			breast(1)|lung(2)	3		all_cancers(24;1.9e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		AAAAAGAAACCTGCTCCTCCA	0.443													3	69					0.150653	0.154958	0.150653	1	0	A	26800580	C	A	26800580	3	1	119	1	0	0	0	0	1	0	0	0	7235	681	24	5	109	5	HMGN2	1	26800580	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	25213699	26800580	222450041	3	5387											
HCN3	57657	broad.mit.edu	37	chr1	155257756	155257756	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggagccactggtacatgcGccccttcaggcagctgctgt	6	9	13	13	1	1	0	1	0	0	0	1	1	1	1	3	3	5	4	3	3	1	2			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:155257756G>A	uc001fjz.1	+	7	1835	c.1827G>A	c.(1825-1827)gcG>gcA	p.A609A	HCN3_uc010pfz.1_Silent_p.A304A	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 3 (HCN3), mRNA.	609						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.A609A(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGTACATGCGCCCCTTCAGG	0.627													8	95					0	0	0.361761	0	0	A	155257756	G	A	155257756	2	1	119	1	0	0	0	0	0	0	0	1	6998	1074	38	1		1	HCN3	1	155257756	Silent	SNP	G	TCGA-E1-5302-01A-01D-1468-08	128457176	155257756	93992865	4	5388											
OR1C1	26188	broad.mit.edu	37	chr1	247920937	247920937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaagggctgaaatagaCggcgatggctgtgccgtaaa	12	7	16	6	3	0	3	0	2	0	1	0	5	0	4	1	4	1	3	1	4	5	2			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:247920937C>T	uc010pza.2	-	0	772	c.772G>A	c.(772-774)Gtc>Atc	p.V258I		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V258V(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CTGAAATAGACGGCGATGGCT	0.512													51	44					0	0	0.870114	0	0	T	247920937	C	T	247920937	3	4	119	1	0	0	0	0	1	0	0	0	10952	536	19	1	174	1	OR1C1	1	247920937	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	92663181	247920937	1329684	5	5389											
CLIP4	79745	broad.mit.edu	37	chr2	29356592	29356592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagacattagtttgcggagtCgctggacaaacatgaatgct	12	10	11	8	2	0	2	0	1	0	1	1	4	0	4	0	2	3	3	0	2	3	2			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr2:29356592C>T	uc002rmv.3	+	4	678	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	CLIP4_uc002rmu.3_Missense_Mutation_p.R147C|CLIP4_uc010ezm.1_Missense_Mutation_p.R147C|CLIP4_uc002rmw.3_Non-coding_Transcript|CLIP4_uc010ymn.1_Missense_Mutation_p.R129C	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	Homo sapiens CAP-GLY domain containing linker protein family, member 4 (CLIP4), mRNA.	147								p.R147C(2)		endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TTTGCGGAGTCGCTGGACAAA	0.368													8	125					0	0	0.27861	0	0	T	29356592	C	T	29356592	3	4	119	1	0	0	0	0	1	0	0	0	3535	884	31	2	453	2	CLIP4	2	29356592	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08		29356592	213842781	6	5390											
LCLAT1	253558	broad.mit.edu	37	chr2	30863465	30863465	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacacaaacagccacatttaAattcaaagaaaaatgagtaa	22	8	4	7	0	1	2	1	1	0	1	1	2	1	2	1	0	3	1	1	0	8	5			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr2:30863465A>G	uc002rnj.3	+	6	1434	c.1225A>G	c.(1225-1227)Aat>Gat	p.N409D	LCLAT1_uc010ymp.2_Missense_Mutation_p.N247D|LCLAT1_uc002rnl.3_Missense_Mutation_p.N371D|LCLAT1_uc010ymq.2_Missense_Mutation_p.N371D	NM_182551	NP_001002257	Q6UWP7	LCLT1_HUMAN	Homo sapiens lysocardiolipin acyltransferase 1 (LCLAT1), transcript variant 1, mRNA.	409					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						GCCACATTTAAATTCAAAGAA	0.343													17	150					0	0	0.592651	0	0	G	30863465	A	G	30863465	3	3	119	1	0	0	0	0	1	0	0	0	8677	14	1	3	1247	3	LCLAT1	2	30863465	Missense_Mutation	SNP	A	TCGA-E1-5302-01A-01D-1468-08	1506873	30863465	212335908	7	5391											
CAPN13	92291	broad.mit.edu	37	chr2	30966407	30966407	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttggacagtgtttctgaaCgaggaaaaaaacacgggtgg	13	9	13	6	2	1	1	0	1	1	0	1	4	1	3	0	4	2	1	0	4	4	2			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr2:30966407C>T	uc021vfn.1	-	11	1319	c.1287G>A	c.(1285-1287)tcG>tcA	p.S429S	CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Silent_p.S425S|CAPN13_uc002rno.3_5'UTR	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	429					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TGTTTCTGAACGAGGAAAAAA	0.473													99	134					0	0	0.870114	0	0	T	30966407	C	T	30966407	2	4	119	1	0	0	0	0	0	0	0	1	2626	523	19	1		1	CAPN13	2	30966407	Silent	SNP	C	TCGA-E1-5302-01A-01D-1468-08	102942	30966407	212232966	8	5392											
PDE1A	5136	broad.mit.edu	37	chr2	183095781	183095781	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatatctggtaaacagttcAtaaatcataaacttcagact	16	13	4	8	0	5	1	4	0	1	1	5	1	5	1	0	1	2	2	0	1	7	6			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr2:183095781A>C	uc002uos.3	-	5	627	c.543T>G	c.(541-543)taT>taG	p.Y181*	PDE1A_uc010zfp.1_Nonsense_Mutation_p.Y77*|PDE1A_uc002uoq.1_Nonsense_Mutation_p.Y181*|PDE1A_uc010zfq.1_Nonsense_Mutation_p.Y181*|PDE1A_uc002uor.3_Nonsense_Mutation_p.Y165*|PDE1A_uc002uou.3_Nonsense_Mutation_p.Y147*	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	181					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TAAACAGTTCATAAATCATAA	0.323													38	251					0	0	0.804634	0	0	C	183095781	A	C	183095781	4	2	119	1	0	0	0	0	0	1	0	0	11633	224	8	5	1182	5	PDE1A	2	183095781	Nonsense_Mutation	SNP	A	TCGA-E1-5302-01A-01D-1468-08	152129374	183095781	60103592	9	5393											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								45	92					0	0	0.870114	0	0	T	209113112	C	T	209113112	3	4	119	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	26017331	209113112	34086261	10	5394											
GRM7	2917	broad.mit.edu	37	chr3	7188209	7188209	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctatgacttcttctctcGcgtggtgccacccgattcct	4	13	9	15	4	2	1	0	1	2	0	5	2	3	1	3	1	1	1	3	1	1	4			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr3:7188209G>A	uc003bqm.2	+	1	864	c.590G>A	c.(589-591)cGc>cAc	p.R197H	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.R197H|GRM7_uc003bql.2_Missense_Mutation_p.R197H	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	197					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TTCTTCTCTCGCGTGGTGCCA	0.522													34	174					0	0	0.796494	0	0	A	7188209	G	A	7188209	3	1	119	1	0	0	0	0	1	0	0	0	6802	1087	38	1	596	1	GRM7	3	7188209	Missense_Mutation	SNP	G	TCGA-E1-5302-01A-01D-1468-08		7188209	190834221	11	5395											
SCN10A	6336	broad.mit.edu	37	chr3	38797286	38797286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgagcctcttaccatcctgCgctggttgtaaggatcagag	8	11	11	11	1	2	2	1	1	1	1	3	3	3	3	3	2	3	3	3	2	2	3			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr3:38797286C>T	uc003ciq.3	-	9	1454	c.1454G>A	c.(1453-1455)cGc>cAc	p.R485H		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	485					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	taccatcctgcgctGGTTGTA	0.493													6	222					0	0	0.217242	0	0	T	38797286	C	T	38797286	3	4	119	1	0	0	0	0	1	0	0	0	13912	768	27	1	4488	1	SCN10A	3	38797286	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	31609077	38797286	159225144	12	5396											
KLHL18	23276	broad.mit.edu	37	chr3	47361235	47361235	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaaatgacatgatggagtgCaagcaggatgagattgtaat	16	9	12	4	0	0	3	0	3	0	1	0	6	0	5	0	2	2	3	0	2	3	2			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr3:47361235C>T	uc003crd.3	+	1	348	c.222C>T	c.(220-222)tgC>tgT	p.C74C	KLHL18_uc003crc.2_Silent_p.C74C|KLHL18_uc011bav.2_Intron	NM_025010	NP_079286	O94889	KLH18_HUMAN	Homo sapiens kelch-like 18 (Drosophila) (KLHL18), mRNA.	74	BTB.									endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		TGATGGAGTGCAAGCAGGATG	0.493													16	279					0	0	0.500413	0	0	T	47361235	C	T	47361235	2	4	119	1	0	0	0	0	0	0	0	1	8373	718	25	3		3	KLHL18	3	47361235	Silent	SNP	C	TCGA-E1-5302-01A-01D-1468-08	8563949	47361235	150661195	13	5397											
DNAJC13	23317	broad.mit.edu	37	chr3	132222140	132222140	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgaagaacaagcaactcCagaaaatccaaccataagga	19	4	8	10	0	0	3	0	1	0	2	2	4	2	4	3	2	4	2	3	2	8	1			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr3:132222140C>A	uc003eor.3	+	40	4864	c.4799C>A	c.(4798-4800)cCa>cAa	p.P1600Q		NM_015268	NP_056083	O75165	DJC13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.	1600							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CAAGCAACTCCAGAAAATCCA	0.448													4	117					0.150653	0.154958	0.150653	1	0	A	132222140	C	A	132222140	3	1	119	1	0	0	0	0	1	0	0	0	4632	594	21	5	4957	5	DNAJC13	3	132222140	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	84860905	132222140	65800290	14	5398											
MAST4	375449	broad.mit.edu	37	chr5	66448610	66448610	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgattgtgatccacagttcGgggaagaactacggctttac	10	10	11	10	3	0	2	0	1	0	1	2	4	1	3	2	3	3	2	2	3	4	5			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr5:66448610G>A	uc021xzk.1	+	24	3749	c.3441G>A	c.(3439-3441)tcG>tcA	p.S1147S	MAST4_uc003jut.2_Silent_p.S958S|MAST4_uc003juw.3_Silent_p.S886S	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	1150	PDZ.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TCCACAGTTCGGGGAAGAACT	0.542													7	154					0	0	0.27861	0	0	A	66448610	G	A	66448610	2	1	119	1	0	0	0	0	0	0	0	1	9327	1103	39	2		2	MAST4	5	66448610	Silent	SNP	G	TCGA-E1-5302-01A-01D-1468-08		66448610	114466650	15	5399											
IER3	8870	broad.mit.edu	37	chr6	30711944	30711944	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaagccttttggctgggttCggttcctcgactggcagctg	5	12	14	10	2	0	1	0	0	0	1	3	2	1	1	2	4	2	5	2	4	1	4			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr6:30711944C>T	uc003nrn.3	-	1	272	c.240G>A	c.(238-240)ccG>ccA	p.P80P	FLOT1_uc003nrm.3_5'Flank|FLOT1_uc011dmr.2_5'Flank	NM_003897	NP_003888	P46695	IEX1_HUMAN	Homo sapiens immediate early response 3 (IER3), mRNA.	80					anatomical structure morphogenesis|anti-apoptosis|apoptosis	integral to membrane	protein binding			NS(1)	1						TGGCTGGGTTCGGTTCCTCGA	0.617													5	167					0	0	0.248553	0	0	T	30711944	C	T	30711944	2	4	119	1	0	0	0	0	0	0	0	1	7506	871	31	2		2	IER3	6	30711944	Silent	SNP	C	TCGA-E1-5302-01A-01D-1468-08		30711944	140403123	16	5400											
ZNF76	7629	broad.mit.edu	37	chr6	35255507	35255507	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccctgtggctgtgccatCggagagcaccatcctggccg	6	7	12	16	2	0	1	0	0	0	1	2	2	1	1	6	3	2	2	6	3	0	0			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr6:35255507C>A	uc003oki.1	+	4	522	c.317C>A	c.(316-318)tCg>tAg	p.S106*	ZNF76_uc011dsy.1_Nonsense_Mutation_p.S106*|ZNF76_uc011dsz.1_Nonsense_Mutation_p.S106*|ZNF76_uc003okj.1_Nonsense_Mutation_p.S106*|ZNF76_uc011dsx.2_Nonsense_Mutation_p.S106*	NM_003427	NP_003418	P36508	ZNF76_HUMAN	Homo sapiens zinc finger protein 76 (ZNF76), mRNA.	106					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GCTGTGCCATCGGAGAGCACC	0.617													3	125					0.115264	0.122044	0.115264	1	0	A	35255507	C	A	35255507	4	1	119	1	0	0	0	0	0	1	0	0	18132	893	31	5	331	5	ZNF76	6	35255507	Nonsense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	4543563	35255507	135859560	17	5401											
GPR116	221395	broad.mit.edu	37	chr6	46826878	46826878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtggttgtcatcactaagCtctctgcaaagttattttcc	9	15	7	10	0	3	0	2	0	1	0	5	0	4	0	1	1	2	4	1	1	3	5			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr6:46826878C>T	uc003oyo.3	-	16	3051	c.2762G>A	c.(2761-2763)aGc>aAc	p.S921N	GPR116_uc011dwj.1_Missense_Mutation_p.S476N|GPR116_uc011dwk.1_Missense_Mutation_p.S350N|GPR116_uc003oyp.3_Missense_Mutation_p.S779N|GPR116_uc003oyq.3_Missense_Mutation_p.S921N|GPR116_uc010jzi.1_Missense_Mutation_p.S593N	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	921					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CATCACTAAGCTCTCTGCAAA	0.448													42	192					0	0	0.870114	0	0	T	46826878	C	T	46826878	3	4	119	1	0	0	0	0	1	0	0	0	6633	797	28	3	1298	3	GPR116	6	46826878	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	11571371	46826878	124288189	18	5402											
MCM9	254394	broad.mit.edu	37	chr6	119245149	119245149	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcacaaacacatgcttgcAtttgttacacatgtaatccc	13	12	5	11	0	1	0	1	0	0	0	2	1	2	0	1	0	4	4	1	0	3	4			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr6:119245149A>G	uc021zeh.1	-	1	463	c.448T>C	c.(448-450)Tgc>Cgc	p.C150R	MCM9_uc003pyh.3_Missense_Mutation_p.C150R	NM_017696	NP_060166	Q9NXL9	MCM9_HUMAN	Homo sapiens minichromosome maintenance complex component 9 (MCM9), transcript variant 1, mRNA.	150					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		ACATGCTTGCATTTGTTACAC	0.458													27	350					0	0	0.681144	0	0	G	119245149	A	G	119245149	3	3	119	1	0	0	0	0	1	0	0	0	9394	217	8	3	747	3	MCM9	6	119245149	Missense_Mutation	SNP	A	TCGA-E1-5302-01A-01D-1468-08	72418271	119245149	51869918	19	5403											
SCRN1	9805	broad.mit.edu	37	chr7	29963705	29963705	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcttctccagctccagcatGgtgctcctcagcttgcgacc	5	11	9	16	1	2	0	1	0	1	0	5	1	4	0	4	1	6	5	4	1	0	2			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr7:29963705G>A	uc011kaa.2	-	7	1222	c.1173C>T	c.(1171-1173)acC>acT	p.T391T	SCRN1_uc011jzy.2_Silent_p.T303T|SCRN1_uc003tak.3_Silent_p.T371T|SCRN1_uc011jzz.2_Silent_p.T371T|SCRN1_uc011jzw.2_Silent_p.T238T|SCRN1_uc010kvp.3_Silent_p.T371T|SCRN1_uc011jzx.2_Silent_p.T194T	NM_001145514	NP_001138986	Q12765	SCRN1_HUMAN	Homo sapiens secernin 1 (SCRN1), transcript variant 3, mRNA.	371					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						GCTCCAGCATGGTGCTCCTCA	0.557													17	150					0	0	0.520397	0	0	A	29963705	G	A	29963705	2	1	119	1	0	0	0	0	0	0	0	1	13938	1335	47	3		3	SCRN1	7	29963705	Silent	SNP	G	TCGA-E1-5302-01A-01D-1468-08		29963705	129174958	20	5404											
RNF133	168433	broad.mit.edu	37	chr7	122338205	122338205	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagcgttcaaagcaaattacGcagctatccccatttggatt	12	12	7	10	2	1	0	1	0	0	0	2	1	2	1	2	1	4	4	2	1	5	6			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr7:122338205G>A	uc003vkj.1	-	0	1004	c.768C>T	c.(766-768)tgC>tgT	p.C256C	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	Homo sapiens ring finger protein 133 (RNF133), mRNA.	256						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						AGCAAATTACGCAGCTATCCC	0.398													122	355					0	0	0.870114	0	0	A	122338205	G	A	122338205	2	1	119	1	0	0	0	0	0	0	0	1	13439	1079	38	1		1	RNF133	7	122338205	Silent	SNP	G	TCGA-E1-5302-01A-01D-1468-08	92374500	122338205	36800458	21	5405											
FAM154A	158297	broad.mit.edu	37	chr9	18928507	18928507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttaatctgaagtgcaggtCggcaggactgagctggggca	9	9	15	8	1	2	2	0	2	2	0	3	3	2	3	0	5	2	4	0	5	2	1			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr9:18928507C>T	uc003zni.2	-	3	1318	c.968G>A	c.(967-969)cGa>cAa	p.R323Q	FAM154A_uc010mip.2_Missense_Mutation_p.R131Q	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	Homo sapiens family with sequence similarity 154, member A (FAM154A), mRNA.	323										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		AAGTGCAGGTCGGCAGGACTG	0.562													9	147					0	0	0.335167	0	0	T	18928507	C	T	18928507	3	4	119	1	0	0	0	0	1	0	0	0	5463	884	31	2	460	2	FAM154A	9	18928507	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08		18928507	122284924	22	5406											
FAM102A	399665	broad.mit.edu	37	chr9	130707146	130707146	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgtgtcgtccacccaggTcgggtggctctccaccgagt	4	8	13	16	5	1	0	0	0	1	0	5	1	2	0	5	3	0	1	5	3	0	0	rs11558950		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr9:130707146T>C	uc004bsx.2	-	8	1345	c.949A>G	c.(949-951)Acc>Gcc	p.T317A	FAM102A_uc004bsw.1_Missense_Mutation_p.T175A|FAM102A_uc004bsy.1_Missense_Mutation_p.T45A	NM_001035254	NP_976050	Q5T9C2	F102A_HUMAN	Homo sapiens family with sequence similarity 102, member A (FAM102A), transcript variant 1, mRNA.	317								p.T317T(1)		breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						TCCACCCAGGTCGGGTGGCTC	0.607													3	91					0	0	0.115264	0	0	C	130707146	T	C	130707146	3	2	119	1	0	0	0	0	1	0	0	0	5382	1667	58	3	217	3	FAM102A	9	130707146	Missense_Mutation	SNP	T	TCGA-E1-5302-01A-01D-1468-08	111778639	130707146	10506285	23	5407											
ABCA2	20	broad.mit.edu	37	chr9	139912486	139912486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgcctggctccaccacatCgtgccccacaaaagtgtcga	9	7	9	16	2	0	0	0	0	0	0	3	1	1	0	5	1	2	2	5	1	2	0			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr9:139912486C>T	uc004ckm.1	-	14	2172	c.2122G>A	c.(2122-2124)Gat>Aat	p.D708N	ABCA2_uc022bpy.1_Missense_Mutation_p.D609N|ABCA2_uc022bpz.1_Missense_Mutation_p.D679N|ABCA2_uc011mem.1_Missense_Mutation_p.D678N|ABCA2_uc004ckl.1_Missense_Mutation_p.D609N|ABCA2_uc004ckn.1_Non-coding_Transcript	NM_212533	NP_997698	Q9BZC7	ABCA2_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 2 (ABCA2), transcript variant 2, mRNA.	678					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TCCACCACATCGTGCCCCACA	0.662													10	36					0	0	0.411799	0	0	T	139912486	C	T	139912486	3	4	119	1	0	0	0	0	1	0	0	0	32	884	31	2	5415	2	ABCA2	9	139912486	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	9205340	139912486	1300945	24	5408											
NDOR1	27158	broad.mit.edu	37	chr9	140110623	140110623	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggaccgccagggtgcAtacttctacctggcagggtg	6	9	14	12	1	1	0	0	0	1	0	1	1	1	1	3	4	4	3	3	4	2	3			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr9:140110623A>G	uc004clx.3	+	12	1770	c.1659A>G	c.(1657-1659)gcA>gcG	p.A553A	NDOR1_uc004clw.3_Silent_p.A544A|NDOR1_uc011mes.2_Silent_p.A537A|NDOR1_uc004cly.3_Intron	NM_001144026	NP_001137498	Q9UHB4	NDOR1_HUMAN	Homo sapiens NADPH dependent diflavin oxidoreductase 1 (NDOR1), transcript variant 1, mRNA.	544					cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	FMN binding|NADP binding|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCCAGGGTGCATACTTCTACC	0.642													17	135					0	0	0.557998	0	0	G	140110623	A	G	140110623	2	3	119	1	0	0	0	0	0	0	0	1	10249	204	8	3		3	NDOR1	9	140110623	Silent	SNP	A	TCGA-E1-5302-01A-01D-1468-08	198137	140110623	1102808	25	5409											
LDB1	8861	broad.mit.edu	37	chr10	103871263	103871263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgttcgggggctccttcggcGagtacagcttgaatgacttt	6	12	13	10	4	0	2	0	2	0	0	3	3	1	2	1	3	2	4	1	3	2	5			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr10:103871263G>A	uc009xwz.3	-	1	399	c.56C>T	c.(55-57)tCg>tTg	p.S19L	LDB1_uc001kuk.4_5'UTR|LDB1_uc001kul.3_5'UTR	NM_001113407	NP_003884	Q86U70	LDB1_HUMAN	Homo sapiens LIM domain binding 1 (LDB1), transcript variant 1, mRNA.	19					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		CTCCTTCGGCGAGTACAGCTT	0.547													42	62					0	0	0.840704	0	0	A	103871263	G	A	103871263	3	1	119	1	0	0	0	0	1	0	0	0	8695	1059	37	2	1219	2	LDB1	10	103871263	Missense_Mutation	SNP	G	TCGA-E1-5302-01A-01D-1468-08		103871263	31663484	26	5410											
PLAC1L	219990	broad.mit.edu	37	chr11	59812148	59812148	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcatgctctcctaggtagTttctgaggaaactctccttt	7	16	7	11	0	4	1	1	1	3	0	6	2	4	2	2	2	2	3	2	2	3	5			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:59812148T>C	uc001nol.3	+	2	433	c.248T>C	c.(247-249)gTt>gCt	p.V83A		NM_173801	NP_776162	Q86WS3	PLACL_HUMAN	Homo sapiens placenta-specific 1-like (PLAC1L), mRNA.	83						extracellular region				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						TCCTAGGTAGTTTCTGAGGAA	0.398													28	135					0	0	0.681144	0	0	C	59812148	T	C	59812148	3	2	119	1	0	0	0	0	1	0	0	0	12013	1725	60	3	258	3	PLAC1L	11	59812148	Missense_Mutation	SNP	T	TCGA-E1-5302-01A-01D-1468-08		59812148	75194368	27	5411											
TMEM109	79073	broad.mit.edu	37	chr11	60687346	60687346	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacccagataggtcgatctGtgcgagggacactggatgcc	9	8	14	10	2	1	2	0	1	1	1	2	6	1	4	2	3	2	0	2	3	1	1			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:60687346G>C	uc001nqg.3	+	1	559	c.181G>C	c.(181-183)Gtg>Ctg	p.V61L		NM_024092	NP_076997	Q9BVC6	TM109_HUMAN	Homo sapiens transmembrane protein 109 (TMEM109), mRNA.	61						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						AGGTCGATCTGTGCGAGGGAC	0.542													13	247					0	0	0.520397	0	0	C	60687346	G	C	60687346	3	2	119	1	0	0	0	0	1	0	0	0	16022	1377	48	5	183	5	TMEM109	11	60687346	Missense_Mutation	SNP	G	TCGA-E1-5302-01A-01D-1468-08	875198	60687346	74319170	28	5412											
MTA2	9219	broad.mit.edu	37	chr11	62361480	62361480	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcggcgagcagctcgccgcAtttccagatgggtcagagcc	7	7	14	13	4	1	2	1	0	0	2	4	3	2	2	3	2	3	3	3	2	0	1			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:62361480A>C	uc001ntq.2	-	17	2264	c.1874T>G	c.(1873-1875)aTg>aGg	p.M625R	TUT1_uc001nto.2_5'Flank|MTA2_uc010rlx.1_Missense_Mutation_p.M452R	NM_004739	NP_004730	O94776	MTA2_HUMAN	Homo sapiens metastasis associated 1 family, member 2 (MTA2), mRNA.	625					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						AGCTCGCCGCATTTCCAGATG	0.592											OREG0021027	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	237					0	0	0.479597	0	0	C	62361480	A	C	62361480	3	2	119	1	0	0	0	0	1	0	0	0	9909	217	8	5	136	5	MTA2	11	62361480	Missense_Mutation	SNP	A	TCGA-E1-5302-01A-01D-1468-08	1674134	62361480	72645036	29	5413											
GANAB	23193	broad.mit.edu	37	chr11	62400156	62400156	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacagacccatacaaggccaTtgggttgtacagctcatact	12	9	8	12	0	1	1	1	0	0	1	1	1	1	1	2	2	4	3	2	2	4	5			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:62400156T>G	uc001nua.3	-	9	976	c.943A>C	c.(943-945)Atg>Ctg	p.M315L	GANAB_uc001nub.3_Missense_Mutation_p.M293L|GANAB_uc001nuc.3_Missense_Mutation_p.M196L|GANAB_uc010rma.2_Missense_Mutation_p.M201L|GANAB_uc010rmb.2_Missense_Mutation_p.M179L	NM_198335	NP_938149	Q14697	GANAB_HUMAN	Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.	293					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	Golgi apparatus|endoplasmic reticulum lumen|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TACAAGGCCATTGGGTTGTAC	0.542													24	554					0	0	0.693898	0	0	G	62400156	T	G	62400156	3	3	119	1	0	0	0	0	1	0	0	0	6233	1493	52	5	2021	5	GANAB	11	62400156	Missense_Mutation	SNP	T	TCGA-E1-5302-01A-01D-1468-08	38676	62400156	72606360	30	5414											
CCDC87	55231	broad.mit.edu	37	chr11	66359044	66359044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacaaagttatcaatatcCattttttcaatggctttggg	12	15	6	8	0	2	0	2	0	0	0	3	0	3	0	2	2	1	2	2	2	6	6			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:66359044C>T	uc001oiq.4	-	0	1511	c.1443G>A	c.(1441-1443)atG>atA	p.M481I	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	481										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TATCAATATCCATTTTTTCAA	0.458													14	311					0	0	0.500413	0	0	T	66359044	C	T	66359044	3	4	119	1	0	0	0	0	1	0	0	0	2862	594	21	3	1110	3	CCDC87	11	66359044	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	3958888	66359044	68647472	31	5415											
ZW10	9183	broad.mit.edu	37	chr11	113628513	113628513	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgttaggctggctttctaTcacagcatgaagggatgggc	9	12	13	7	0	2	1	1	1	1	0	2	2	2	2	0	4	1	4	0	4	4	4			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:113628513T>C	uc001poe.3	-	6	893	c.796A>G	c.(796-798)Ata>Gta	p.I266V	ZW10_uc009yyv.3_Non-coding_Transcript	NM_004724	NP_004715	O43264	ZW10_HUMAN	Homo sapiens ZW10, kinetochore associated, homolog (Drosophila) (ZW10), mRNA.	266	Interaction with RINT1.				ER to Golgi vesicle-mediated transport|cell division|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	p.V265V(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TGGCTTTCTATCACAGCATGA	0.378													16	147					0	0	0.479597	0	0	C	113628513	T	C	113628513	3	2	119	1	0	0	0	0	1	0	0	0	18244	1435	50	3	1583	3	ZW10	11	113628513	Missense_Mutation	SNP	T	TCGA-E1-5302-01A-01D-1468-08	47269469	113628513	21378003	32	5416											
LRP1	4035	broad.mit.edu	37	chr12	57577624	57577624	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggccaagcgggaccagaCgtggcgtgaagacgtggtga	9	4	18	10	5	0	4	0	2	0	2	0	5	0	5	3	4	1	0	3	4	2	0			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr12:57577624C>A	uc001snd.3	+	35	6327	c.5861C>A	c.(5860-5862)aCg>aAg	p.T1954K		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1954					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGGGACCAGACGTGGCGTGAA	0.612													3	119					0.004672	0.00517514	0.115264	1	0	A	57577624	C	A	57577624	3	1	119	1	0	0	0	0	1	0	0	0	8951	536	19	5	6003	5	LRP1	12	57577624	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08		57577624	76274271	33	5417											
STAB2	55576	broad.mit.edu	37	chr12	104049284	104049284	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatggagttggtggaccataCaccatttttgttccaaataa	12	13	9	7	0	0	0	0	0	0	0	1	3	1	2	3	3	1	2	3	3	3	6			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr12:104049284C>T	uc001tjw.3	+	14	1845	c.1659C>T	c.(1657-1659)taC>taT	p.Y553Y		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	553	FAS1 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTGGACCATACACCATTTTTG	0.423													60	53					0	0	0.870114	0	0	T	104049284	C	T	104049284	2	4	119	1	0	0	0	0	0	0	0	1	15237	489	17	3		3	STAB2	12	104049284	Silent	SNP	C	TCGA-E1-5302-01A-01D-1468-08	46471660	104049284	29802611	34	5418											
STAB2	55576	broad.mit.edu	37	chr12	104139000	104139000	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatggcatcacgggctcCgggcagtgcctctgtgaaac	8	8	14	11	2	2	2	1	2	1	0	3	3	3	2	2	3	2	3	2	3	1	0			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr12:104139000C>A	uc001tjw.3	+	56	6267	c.6081C>A	c.(6079-6081)tcC>tcA	p.S2027S	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	2027					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TCACGGGCTCCGGGCAGTGCC	0.587													3	64					0.115264	0.122044	0.115264	1	0	A	104139000	C	A	104139000	2	1	119	1	0	0	0	0	0	0	0	1	15237	639	23	5		5	STAB2	12	104139000	Silent	SNP	C	TCGA-E1-5302-01A-01D-1468-08	89716	104139000	29712895	35	5419											
TDG	6996	broad.mit.edu	37	chr12	104374683	104374683	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttttatagattggcataaacCcgggactaatggctgcttac	11	13	9	8	1	0	1	0	0	0	1	0	2	0	2	1	3	3	3	1	3	6	7			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr12:104374683C>T	uc001tkg.3	+	3	644	c.421C>T	c.(421-423)Ccg>Tcg	p.P141S	TDG_uc009zuk.3_Missense_Mutation_p.P137S|TDG_uc010swi.2_5'UTR|TDG_uc010swj.2_5'UTR	NM_003211	NP_003202	Q13569	TDG_HUMAN	Homo sapiens thymine-DNA glycosylase (TDG), mRNA.	141					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	p.P141P(1)		large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TGGCATAAACCCGGGACTAAT	0.363								Base excision repair (BER), DNA glycosylases					23	208					0	0	0.681144	0	0	T	104374683	C	T	104374683	3	4	119	1	0	0	0	0	1	0	0	0	15722	623	22	3	435	3	TDG	12	104374683	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	235683	104374683	29477212	36	5420											
GABRA5	2558	broad.mit.edu	37	chr15	27128668	27128668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgcccaacaagctgctgcGgctggaggacgacggcaccc	9	3	13	16	4	0	0	0	0	0	0	0	3	0	2	2	4	4	4	2	4	2	0			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr15:27128668G>A	uc001zbd.2	+	5	993	c.461G>A	c.(460-462)cGg>cAg	p.R154Q	GABRB3_uc001zbb.3_Intron|GABRA5_uc021sgi.1_Missense_Mutation_p.R154Q	NM_000810	NP_001158509	P31644	GBRA5_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA.	154					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAGCTGCTGCGGCTGGAGGAC	0.677													8	43					0	0	0.27861	0	0	A	27128668	G	A	27128668	3	1	119	1	0	0	0	0	1	0	0	0	6164	1116	39	2	475	2	GABRA5	15	27128668	Missense_Mutation	SNP	G	TCGA-E1-5302-01A-01D-1468-08		27128668	75402724	37	5421											
ACAN	176	broad.mit.edu	37	chr15	89401845	89401845	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttagtggggattttgccaGcaccaccaatgtaagtggag	10	12	12	7	0	0	0	0	0	0	0	0	2	0	2	3	3	2	2	3	3	3	5			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr15:89401845G>A	uc010upo.1	+	11	6403	c.6029G>A	c.(6028-6030)aGc>aAc	p.S2010N	ACAN_uc010upp.1_Missense_Mutation_p.S2010N|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2010					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GATTTTGCCAGCACCACCAAT	0.522													3	102					0	0	0.150653	0	0	A	89401845	G	A	89401845	3	1	119	1	0	0	0	0	1	0	0	0	117	971	34	3	6071	3	ACAN	15	89401845	Missense_Mutation	SNP	G	TCGA-E1-5302-01A-01D-1468-08	62273177	89401845	13129547	38	5422											
PKD1	5310	broad.mit.edu	37	chr16	2147949	2147949	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgtcgatgtccagcacctGctgcccggcaggtgtggggc	4	8	16	13	2	0	0	0	0	0	0	2	1	1	0	3	4	3	4	3	4	0	0			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr16:2147949G>A	uc002cos.1	-	30	10296	c.10087C>T	c.(10087-10089)Cag>Tag	p.Q3363*	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Nonsense_Mutation_p.Q3363*|PKD1_uc010bse.1_Non-coding_Transcript	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	3363					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCCAGCACCTGCTGCCCGGCA	0.662													3	31					0	0	0.115264	0	0	A	2147949	G	A	2147949	4	1	119	1	0	0	0	0	0	1	0	0	11963	1328	46	3	2888	3	PKD1	16	2147949	Nonsense_Mutation	SNP	G	TCGA-E1-5302-01A-01D-1468-08		2147949	88206804	39	5423											
HS3ST4	9951	broad.mit.edu	37	chr16	26147367	26147367	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagcatttctatttcaacaAaaccaaggggttcccttgcc	12	11	7	11	0	2	0	1	0	1	0	3	1	3	0	3	2	4	2	3	2	6	5			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr16:26147367A>T	uc002dof.3	+	1	1561	c.1169A>T	c.(1168-1170)aAa>aTa	p.K390I		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	390					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	p.K390E(1)		breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TATTTCAACAAAACCAAGGGG	0.517													21	85					0	0	0.608945	0	0	T	26147367	A	T	26147367	3	4	119	1	0	0	0	0	1	0	0	0	7367	14	1	5	1175	5	HS3ST4	16	26147367	Missense_Mutation	SNP	A	TCGA-E1-5302-01A-01D-1468-08	23999418	26147367	64207386	40	5424											
TP53	7157	broad.mit.edu	37	chr17	7577101	7577101	+	Frame_Shift_Del	DEL	C	C	-																															tcctctgtgcgccggtctctCccaggacaggcacaaacacg																										TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr17:7577101delC	uc002gim.2	-	7	1031	c.837delG	c.(835-837)gggfs	p.G279fs	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Frame_Shift_Del_p.G279fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.G147fs|TP53_uc010cnf.1_Frame_Shift_Del_p.G147fs|TP53_uc002gii.1_Frame_Shift_Del_p.G147fs|TP53_uc010cni.1_Frame_Shift_Del_p.G279fs|TP53_uc010cnh.1_Frame_Shift_Del_p.G279fs|TP53_uc002gij.2_Frame_Shift_Del_p.G279fs|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.	279	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> W (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P278L(58)|p.P278S(53)|p.G279E(32)|p.P278R(28)|p.P278T(22)|p.P278A(20)|p.P278H(12)|p.G279R(8)|p.0?(8)|p.G279G(6)|p.P278fs*67(5)|p.G279V(5)|p.P278F(4)|p.G279fs*65(4)|p.A276_R283delACPGRDRR(2)|p.G279_R280delGR(2)|p.G279W(2)|p.P278fs*28(2)|p.G279fs*59(2)|p.F270_D281del12(2)|p.C275_R283delCACPGRDRR(2)|p.?(2)|p.L265_K305del41(2)|p.V272_K292del21(2)|p.G279fs*27(2)|p.A276fs*64(1)|p.V274_P278del(1)|p.R280fs*62(1)|p.C277_P278insXXXXXXX(1)|p.P278_G279insXXXXX(1)|p.S269fs*21(1)|p.C275fs*20(1)|p.G279fs*26(1)|p.P278P(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)		GCCGGTCTCTCCCAGGACAGG	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)			90	20	---	---	---	---						-	7577101	C	-	7577101	7	5	119	1	0	1	0	1	0	0	0	0	16378	842	30	0	449	0	TP53	17	7577101	Frame_Shift_Del	DEL	C	TCGA-E1-5302-01A-01D-1468-08		7577101	73618109	41	5425											
GRIN2C	2905	broad.mit.edu	37	chr17	72851092	72851092	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggggggtgaggcgggcaCggaactgggcctggggcggc	4	5	23	9	3	1	1	0	1	1	0	1	2	1	2	1	10	1	1	1	10	1	0	rs142837005	byFrequency	TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr17:72851092C>A	uc002jlt.1	-	1	296	c.140G>T	c.(139-141)cGt>cTt	p.R47L	GRIN2C_uc010wrh.1_Non-coding_Transcript|GRIN2C_uc002jlu.1_Missense_Mutation_p.R47L|GRIN2C_uc002jlv.1_Missense_Mutation_p.R47L	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C (GRIN2C), mRNA.	47					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GAGGCGGGCACGGAACTGGGC	0.687													5	66					1.23904e-05	1.39392e-05	0.184627	1	0	A	72851092	C	A	72851092	3	1	119	1	0	0	0	0	1	0	0	0	6781	536	19	5	3609	5	GRIN2C	17	72851092	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	65273991	72851092	8344118	42	5426											
CDH19	28513	broad.mit.edu	37	chr18	64172539	64172539	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaaagtcaaaaaaataaacCctgatgaagaaagcacatca	22	5	5	9	0	2	3	2	2	0	1	2	3	2	3	2	0	2	1	2	0	8	1			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr18:64172539C>T	uc002lkc.1	-	12	1967	c.1829_splice	c.e12-1	p.G610_splice	CDH19_uc010dql.1_Splice_Site|CDH19_uc010xey.1_Splice_Site_p.G487_splice	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	610					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				AAAAATAAACCCTGATGAAGA	0.303													10	165					0	0	0.335167	0	0	T	64172539	C	T	64172539	5	4	119	1	0	0	0	0	0	0	1	0	3104	637	22	3	493	3	CDH19	18	64172539	Splice_Site	SNP	C	TCGA-E1-5302-01A-01D-1468-08		64172539	13904709	43	5427											
DOHH	83475	broad.mit.edu	37	chr19	3492382	3492382	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcaggcgccccacgtcaCgctcctcagccggcggggca	5	3	13	20	6	2	0	2	0	0	0	3	0	3	0	5	4	1	3	5	4	0	0			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr19:3492382C>T	uc002lxs.3	-	3	630	c.467G>A	c.(466-468)cGt>cAt	p.R156H	DOHH_uc010xhl.2_Missense_Mutation_p.R156H	NM_031304	NP_112594	Q9BU89	DOHH_HUMAN	Homo sapiens deoxyhypusine hydroxylase/monooxygenase (DOHH), transcript variant 2, mRNA.	156					peptidyl-lysine modification to hypusine|post-translational protein modification	cytosol	deoxyhypusine monooxygenase activity|metal ion binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCACGTCACGCTCCTCAGC	0.746													3	3					0	0	0.150653	0	0	T	3492382	C	T	3492382	3	4	119	1	0	0	0	0	1	0	0	0	4695	536	19	1	449	1	DOHH	19	3492382	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08		3492382	55636601	44	5428											
C3	718	broad.mit.edu	37	chr19	6697496	6697496	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacttgggggggatggttacGgtctgctggtgacgcctctt	4	12	17	8	2	2	1	0	1	2	0	2	3	2	2	1	6	2	2	1	6	1	3	rs140780068		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr19:6697496G>A	uc002mfm.3	-	20	2717	c.2655C>T	c.(2653-2655)acC>acT	p.T885T		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	885					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GGATGGTTACGGTCTGCTGGT	0.587													9	117					0	0	0.307466	0	0	A	6697496	G	A	6697496	2	1	119	1	0	0	0	0	0	0	0	1	2204	1103	39	2		2	C3	19	6697496	Silent	SNP	G	TCGA-E1-5302-01A-01D-1468-08	3205114	6697496	52431487	45	5429											
NCAN	1463	broad.mit.edu	37	chr19	19337662	19337662	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaccctatgcctaggagaagGgggcgcttcaaagggttgaa	11	7	15	8	1	1	2	1	1	0	1	1	4	1	2	2	4	1	2	2	4	5	4			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr19:19337662G>A	uc002nlz.3	+	6	1539	c.1440G>A	c.(1438-1440)agG>agA	p.R480R	NCAN_uc010ecc.1_Silent_p.R44R	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	480					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CTAGGAGAAGGGGGCGCTTCA	0.667													3	103					0	0	0.115264	0	0	A	19337662	G	A	19337662	2	1	119	1	0	0	0	0	0	0	0	1	10204	1223	43	3		3	NCAN	19	19337662	Silent	SNP	G	TCGA-E1-5302-01A-01D-1468-08	12640166	19337662	39791321	46	5430											
PLD3	23646	broad.mit.edu	37	chr19	40883897	40883897	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccattcctctctaggaacCtccaactggtctggcaacta	10	10	6	15	0	2	0	0	0	2	0	5	1	4	1	4	3	3	1	4	3	5	3			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr19:40883897C>G	uc002onm.4	+	12	1688	c.1290C>G	c.(1288-1290)acC>acG	p.T430T	PLD3_uc002onj.4_Silent_p.T430T|PLD3_uc002onn.3_Silent_p.T430T	NM_001031696	NP_036400	Q8IV08	PLD3_HUMAN	Homo sapiens phospholipase D family, member 3 (PLD3), transcript variant 1, mRNA.	430	PLD phosphodiesterase 2.				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			CTCTAGGAACCTCCAACTGGT	0.647													23	139					0	0	0.639603	0	0	G	40883897	C	G	40883897	2	3	119	1	0	0	0	0	0	0	0	1	12047	668	24	5		5	PLD3	19	40883897	Silent	SNP	C	TCGA-E1-5302-01A-01D-1468-08	21546235	40883897	18245086	47	5431											
KRTAP10-11	386678	broad.mit.edu	37	chr21	46066417	46066417	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgctccagcgcttactcCgactcctggcaggtggacga	6	9	12	14	3	1	0	0	0	1	0	4	3	4	1	3	3	3	3	3	3	1	1			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr21:46066417C>T	uc002zfr.4	+	0	87	c.42C>T	c.(40-42)tcC>tcT	p.S14S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198692	NP_941965	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-11 (KRTAP10-11), mRNA.	14						keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						GCGCTTACTCCGACTCCTGGC	0.672													5	129					0	0	0.27861	0	0	T	46066417	C	T	46066417	2	4	119	1	0	0	0	0	0	0	0	1	8507	639	23	2		2	KRTAP10-11	21	46066417	Silent	SNP	C	TCGA-E1-5302-01A-01D-1468-08		46066417	2063478	48	5432											
MICALL1	85377	broad.mit.edu	37	chr22	38323471	38323471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgccctcggccacaccatcgCcagcgctcagcgtggagagc	7	4	12	18	5	1	1	1	0	0	1	3	2	1	1	4	2	3	1	4	2	0	0			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr22:38323471C>T	uc003aui.3	+	8	1794	c.1519C>T	c.(1519-1521)Cca>Tca	p.P507S		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	Homo sapiens MICAL-like 1 (MICALL1), mRNA.	507	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding	p.P507L(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					CACACCATCGCCAGCGCTCAG	0.677													44	44					0	0	0.847076	0	0	T	38323471	C	T	38323471	3	4	119	1	0	0	0	0	1	0	0	0	9573	739	26	3	1553	3	MICALL1	22	38323471	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08		38323471	12981095	49	5433											
SMC1B	27127	broad.mit.edu	37	chr22	45785706	45785706	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaatggcagtgatgaaccgGccaaaaaccttagtaacagc	16	6	9	10	1	0	2	0	2	0	0	0	2	0	2	3	2	4	2	3	2	6	2			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr22:45785706G>A	uc003bgc.3	-	9	1669	c.1617C>T	c.(1615-1617)ggC>ggT	p.G539G	SMC1B_uc003bgd.3_Silent_p.G539G|SMC1B_uc003bge.1_Silent_p.G322G	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	539	Flexible hinge.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding	p.G539G(3)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TGATGAACCGGCCAAAAACCT	0.413													5	225					0	0	0.217242	0	0	A	45785706	G	A	45785706	2	1	119	1	0	0	0	0	0	0	0	1	14782	1190	42	3		3	SMC1B	22	45785706	Silent	SNP	G	TCGA-E1-5302-01A-01D-1468-08	7462235	45785706	5518860	50	5434											
CELSR1	9620	broad.mit.edu	37	chr22	46929761	46929761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttgaagaggatctggaagtCgggcagcacaggcgggttgt	9	8	18	6	2	1	2	0	1	1	1	2	4	1	4	0	5	1	4	0	5	2	2	rs145654024		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr22:46929761C>T	uc003bhw.1	-	0	3307	c.3307G>A	c.(3307-3309)Gac>Aac	p.D1103N		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1103					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ATCTGGAAGTCGGGCAGCACA	0.607													32	324					0	0	0.796494	0	0	T	46929761	C	T	46929761	3	4	119	1	0	0	0	0	1	0	0	0	3221	884	31	2	5877	2	CELSR1	22	46929761	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	1144055	46929761	4374805	51	5435											
ATRX	546	broad.mit.edu	37	chrX	76907649	76907650	+	Frame_Shift_Del	DEL	TC	TC	-																															tccctctcagcaatacgtttTcgtctctcttcctcttcctt																										TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chrX:76907649_76907650delTC	uc004ecp.4	-	14	4743_4744	c.4511_4512delGA	c.(4510-4512)cgafs	p.R1504fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.R1466fs|ATRX_uc004eco.4_Frame_Shift_Del_p.R1289fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1504					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CAATACGTTTTCGTCTCTCTTC	0.386			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						180	59	---	---	---	---						-	76907650	TC	-	76907649	7	5	119	1	0	1	0	1	0	0	0	0	1208	1770	62	0	3050	0	ATRX	23	76907649	Frame_Shift_Del	DEL	TC	TCGA-E1-5302-01A-01D-1468-08		76907649	78362911	52	5436											
PLA2G4A	5321	broad.mit.edu	37	chr1	186948459	186948459	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatttaggtgttccaagggAaactgaggaagagaaagaaa	17	8	13	3	0	0	3	0	1	0	2	1	6	1	5	1	3	1	2	1	3	7	4			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr1:186948459A>G	uc001gsc.3	+	16	2178	c.1973A>G	c.(1972-1974)gAa>gGa	p.E658G	PLA2G4A_uc010pos.2_Missense_Mutation_p.E598G	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	658	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	GTTCCAAGGGAAACTGAGGAA	0.333													8	140					0	0	0.307466	0	0	G	186948459	A	G	186948459	3	3	120	1	0	0	0	0	1	0	0	0	12001	246	9	3	2035	3	PLA2G4A	1	186948459	Missense_Mutation	SNP	A	TCGA-E1-5303-01A-01D-1468-08		186948459	62302162	1	5437											
TTN	7273	broad.mit.edu	37	chr2	179456089	179456089	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaactgtgtagtgctcatcGgttttaatctcactcccatc	8	15	6	12	1	3	0	3	0	1	0	7	0	4	0	1	1	2	3	1	1	3	3			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr2:179456089G>A	uc021vsy.1	-	252	52884	c.52659C>T	c.(52657-52659)acC>acT	p.T17553T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.T11248T|TTN_uc021vta.1_Silent_p.T11181T|TTN_uc021vtb.1_Silent_p.T11056T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18480	Fibronectin type-III 27.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTGCTCATCGGTTTTAATCT	0.433													276	534					0	0	0.870114	0	0	A	179456089	G	A	179456089	2	1	120	1	0	0	0	0	0	0	0	1	16732	1103	39	2		2	TTN	2	179456089	Silent	SNP	G	TCGA-E1-5303-01A-01D-1468-08		179456089	63743284	2	5438											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								45	96					0	0	0.859065	0	0	T	209113112	C	T	209113112	3	4	120	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-5303-01A-01D-1468-08	29657023	209113112	34086261	3	5439											
SLC23A3	151295	broad.mit.edu	37	chr2	220034279	220034279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttgcaggatggtagacataCcacatgaaaagaagctggag	15	8	12	6	0	0	3	0	1	0	2	0	5	0	5	1	3	3	3	1	3	5	3			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr2:220034279C>T	uc010zkr.2	-	1	395	c.284G>A	c.(283-285)gGt>gAt	p.G95D	NHEJ1_uc002vjq.4_Splice_Site|SLC23A3_uc010zks.2_Missense_Mutation_p.G95D|SLC23A3_uc010fwb.3_Missense_Mutation_p.G95D|SLC23A3_uc002vjs.1_5'Flank|SLC23A3_uc002vjt.1_5'Flank	NM_001144890	NP_001138362	Q6PIS1	S23A3_HUMAN	Homo sapiens solute carrier family 23 (nucleobase transporters), member 3 (SLC23A3), transcript variant 3, mRNA.	95					transmembrane transport	integral to membrane	protein binding|transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTAGACATACCACATGAAAA	0.582													97	240					0	0	0.870114	0	0	T	220034279	C	T	220034279	3	4	120	1	0	0	0	0	1	0	0	0	14464	507	18	3	1616	3	SLC23A3	2	220034279	Missense_Mutation	SNP	C	TCGA-E1-5303-01A-01D-1468-08	10921167	220034279	23165094	4	5440											
CACNA2D3	55799	broad.mit.edu	37	chr3	55052339	55052339	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatattgcttgtgaagactgCtccaagtaagccatcccccc	11	10	7	13	0	0	2	0	1	0	1	2	2	2	2	5	0	3	3	5	0	5	4			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr3:55052339C>T	uc003dhf.3	+	34	3030	c.2982C>T	c.(2980-2982)tgC>tgT	p.C994C	CACNA2D3_uc003dhg.1_Silent_p.C900C|CACNA2D3_uc003dhh.1_Non-coding_Transcript	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	994						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.D993H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GTGAAGACTGCTCCAAGTAAG	0.502													16	33					0	0	0.479597	0	0	T	55052339	C	T	55052339	2	4	120	1	0	0	0	0	0	0	0	1	2550	805	28	3		3	CACNA2D3	3	55052339	Silent	SNP	C	TCGA-E1-5303-01A-01D-1468-08		55052339	142970091	5	5441											
SENP7	57337	broad.mit.edu	37	chr3	101177814	101177814	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttacctttctggtgatgacTtggaagtaacaggacaccct	10	12	9	10	0	1	2	0	2	1	0	1	4	1	4	2	3	2	1	2	3	3	4			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr3:101177814T>G	uc003dut.3	-	3	380	c.269A>C	c.(268-270)aAg>aCg	p.K90T	SENP7_uc003duu.3_Missense_Mutation_p.K90T|SENP7_uc003duv.3_Missense_Mutation_p.K57T|SENP7_uc003duw.3_Missense_Mutation_p.K90T|SENP7_uc003dux.3_Missense_Mutation_p.K57T	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	90				K -> R (in Ref. 3; CAB66534).	proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGGTGATGACTTGGAAGTAAC	0.358													75	368					0	0	0.870114	0	0	G	101177814	T	G	101177814	3	3	120	1	0	0	0	0	1	0	0	0	14051	1609	56	5	2967	5	SENP7	3	101177814	Missense_Mutation	SNP	T	TCGA-E1-5303-01A-01D-1468-08	46125475	101177814	96844616	6	5442											
ZMAT3	64393	broad.mit.edu	37	chr3	178748788	178748788	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttaccatgatttttaccCtagaaataaaaataaaatga	18	14	3	6	0	1	3	0	2	1	1	1	3	1	3	2	0	2	0	2	0	9	8			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr3:178748788C>G	uc003fjg.3	-	3	602	c.271_splice	c.e3-1	p.G91_splice	ZMAT3_uc003fji.3_Splice_Site_p.G91_splice	NM_022470	NP_071915	Q9HA38	ZMAT3_HUMAN	Homo sapiens zinc finger, matrin-type 3 (ZMAT3), transcript variant 1, mRNA.	91					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			GATTTTTACCCTAGAAATAAA	0.398													44	72					0	0	0.847076	0	0	G	178748788	C	G	178748788	5	3	120	1	0	0	0	0	0	0	1	0	17690	695	24	5	615	5	ZMAT3	3	178748788	Splice_Site	SNP	C	TCGA-E1-5303-01A-01D-1468-08	77570974	178748788	19273642	7	5443											
AFP	174	broad.mit.edu	37	chr4	74303981	74303981	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcattgactgcaattgagaaAcccactggagatgaacagtc	14	8	10	9	0	0	4	0	3	0	2	1	6	0	4	1	1	3	2	1	1	3	2			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr4:74303981A>C	uc003hgz.1	+	2	275	c.228A>C	c.(226-228)aaA>aaC	p.K76N		NM_001134	NP_001125	P02771	FETA_HUMAN	Homo sapiens alpha-fetoprotein (AFP), mRNA.	76	Albumin 1.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAATTGAGAAACCCACTggag	0.363									Alpha-Fetoprotein, Hereditary Persistence of				23	112					0	0	0.608945	0	0	C	74303981	A	C	74303981	3	2	120	1	0	0	0	0	1	0	0	0	363	40	2	5	238	5	AFP	4	74303981	Missense_Mutation	SNP	A	TCGA-E1-5303-01A-01D-1468-08		74303981	116850295	8	5444											
SPZ1	84654	broad.mit.edu	37	chr5	79616896	79616896	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttggaaataatggagtcGgtttccaaacccagccaaat	13	10	8	10	1	1	0	0	0	1	0	3	2	2	2	3	3	2	1	3	3	4	3			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr5:79616896G>A	uc011ctk.1	-	0		c.763C>T			SPZ1_uc003kgn.3_Missense_Mutation_p.G288S			Q9BXG8	SPZ1_HUMAN	Homo sapiens cDNA FLJ25709 fis, clone TST04944.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TAATGGAGTCGGTTTCCAAAC	0.413													68	118					0	0	0.870114	0	0	A	79616896	G	A	79616896	1	1	120	0	1	0	0	0	0	0	0	0	15126	1116	39	2		2	SPZ1	5	79616896	RNA	SNP	G	TCGA-E1-5303-01A-01D-1468-08		79616896	101298364	9	5445											
TRIM52	84851	broad.mit.edu	37	chr5	180687093	180687093	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacacagatggcctctttgTccacctcacagaagagtttc	10	10	7	14	0	2	3	1	0	1	3	4	3	3	3	4	1	0	1	4	1	1	2			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr5:180687093T>C	uc003mnp.3	-	0	1027	c.722A>G	c.(721-723)gAc>gGc	p.D241G	BC016291_uc003mnq.3_5'Flank	NM_032765	NP_116154	Q96A61	TRI52_HUMAN	Homo sapiens tripartite motif containing 52 (TRIM52), mRNA.	241						intracellular	zinc ion binding			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		GGCCTCTTTGTCCACCTCACA	0.542													107	171					0	0	0.870114	0	0	C	180687093	T	C	180687093	3	2	120	1	0	0	0	0	1	0	0	0	16524	1667	58	3	179	3	TRIM52	5	180687093	Missense_Mutation	SNP	T	TCGA-E1-5303-01A-01D-1468-08	101070197	180687093	228167	10	5446											
UTRN	7402	broad.mit.edu	37	chr6	144872125	144872125	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaaggctgacttagaacagCgccatcctcagctggattat	12	9	9	11	1	1	2	1	1	0	1	2	3	2	3	2	2	3	2	2	2	4	2	rs114254210	byFrequency	TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr6:144872125C>T	uc003qkt.3	+	46	6927	c.6835C>T	c.(6835-6837)Cgc>Tgc	p.R2279C		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	2279					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTTAGAACAGCGCCATCCTCA	0.338													45	108					0	0	0.853193	0	0	T	144872125	C	T	144872125	3	4	120	1	0	0	0	0	1	0	0	0	17100	768	27	1	7021	1	UTRN	6	144872125	Missense_Mutation	SNP	C	TCGA-E1-5303-01A-01D-1468-08		144872125	26242942	11	5447											
HEATR2	54919	broad.mit.edu	37	chr7	813720	813720	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgagacggtgacaaaggAcatcctggcccccaatctgc	10	6	10	15	2	1	2	0	1	1	1	3	4	2	3	4	3	1	0	4	3	2	0			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr7:813720A>G	uc010krz.1	+	9	1987	c.1967A>G	c.(1966-1968)gAc>gGc	p.D656G	HEATR2_uc003siz.2_Missense_Mutation_p.D524G|HEATR2_uc003sjb.2_Missense_Mutation_p.D36G|HEATR2_uc003sjc.2_Missense_Mutation_p.D81G	NM_017802	NP_060272	Q86Y56	HEAT2_HUMAN	Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA.	656							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		GTGACAAAGGACATCCTGGCC	0.642													55	151					0	0	0.870114	0	0	G	813720	A	G	813720	3	3	120	1	0	0	0	0	1	0	0	0	7028	275	10	3	2005	3	HEATR2	7	813720	Missense_Mutation	SNP	A	TCGA-E1-5303-01A-01D-1468-08		813720	158324943	12	5448											
COG5	10466	broad.mit.edu	37	chr7	107002756	107002756	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttcaaatatttacctgTccacaaacagcataaatatg	15	12	3	11	0	1	0	1	0	0	0	3	0	3	0	3	0	3	1	3	0	7	6			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr7:107002756T>C	uc003vec.2	-	8	1563	c.1038A>G	c.(1036-1038)ggA>ggG	p.G346G	COG5_uc003ved.2_Silent_p.G346G|COG5_uc003vee.2_Silent_p.G346G	NM_006348	NP_006339	Q9UP83	COG5_HUMAN	Homo sapiens component of oligomeric golgi complex 5 (COG5), transcript variant 1, mRNA.	346					intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TATTTACCTGTCCACAAACAG	0.393													12	83					0	0	0.38729	0	0	C	107002756	T	C	107002756	2	2	120	1	0	0	0	0	0	0	0	1	3661	1654	58	3		3	COG5	7	107002756	Silent	SNP	T	TCGA-E1-5303-01A-01D-1468-08	106189036	107002756	52135907	13	5449											
AGK	55750	broad.mit.edu	37	chr7	141301025	141301025	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagccaggactctatttgAaaaaaatgctgccccgattt	15	10	7	9	1	1	1	0	1	1	0	1	3	1	2	3	1	3	1	3	1	6	3			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr7:141301025A>C	uc003vwi.2	+	4	413	c.242A>C	c.(241-243)gAa>gCa	p.E81A	AGK_uc011krg.1_Non-coding_Transcript	NM_018238	NP_060708	Q53H12	AGK_HUMAN	Homo sapiens acylglycerol kinase (AGK), nuclear gene encoding mitochondrial protein, mRNA.	81	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	ATP binding|NAD+ kinase activity|acylglycerol kinase activity|diacylglycerol kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					ACTCTATTTGAAAAAAATGCT	0.363													22	135					0	0	0.654019	0	0	C	141301025	A	C	141301025	3	2	120	1	0	0	0	0	1	0	0	0	383	246	9	5	256	5	AGK	7	141301025	Missense_Mutation	SNP	A	TCGA-E1-5303-01A-01D-1468-08	34298269	141301025	17837638	14	5450											
KCNV1	27012	broad.mit.edu	37	chr8	110984685	110984685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggaagcgacacctgtcccGcacacacaggaagcggagga	13	3	13	12	3	0	0	0	0	0	0	1	5	1	4	2	4	2	1	2	4	3	1			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr8:110984685G>A	uc003ynr.4	-	1	1597	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	KCNV1_uc010mcw.3_Missense_Mutation_p.R265W	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	265						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CACCTGTCCCGCACACACAGG	0.532													12	172					0	0	0.411799	0	0	A	110984685	G	A	110984685	3	1	120	1	0	0	0	0	1	0	0	0	8094	1086	38	1	717	1	KCNV1	8	110984685	Missense_Mutation	SNP	G	TCGA-E1-5303-01A-01D-1468-08		110984685	35379337	15	5451											
C9orf114	51490	broad.mit.edu	37	chr9	131586077	131586077	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggacaggtattgacgtacagGtcaaagaggacactgggttc	12	8	14	7	1	1	2	1	1	0	1	2	4	1	4	0	5	1	3	0	5	3	4			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr9:131586077G>C	uc004bwd.3	-	10	1052	c.1011C>G	c.(1009-1011)gaC>gaG	p.D337E		NM_016390	NP_057474	Q5T280	CI114_HUMAN	Homo sapiens chromosome 9 open reading frame 114 (C9orf114), mRNA.	337										kidney(2)|large_intestine(4)|ovary(1)	7						TGACGTACAGGTCAAAGAGGA	0.642													4	10					0	0	0.150653	0	0	C	131586077	G	C	131586077	3	2	120	1	0	0	0	0	1	0	0	0	2449	1252	44	5	127	5	C9orf114	9	131586077	Missense_Mutation	SNP	G	TCGA-E1-5303-01A-01D-1468-08		131586077	9627354	16	5452											
OR8I2	120586	broad.mit.edu	37	chr11	55860898	55860898	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttcatttatctattcactGttttgggaaacctgggactg	8	17	8	8	0	4	0	2	0	2	0	4	2	4	2	1	2	1	1	1	2	3	7			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr11:55860898G>C	uc010rix.2	+	0	115	c.115G>C	c.(115-117)Gtt>Ctt	p.V39L		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TCTATTCACTGTTTTGGGAAA	0.378													157	314					0	0	0.870114	0	0	C	55860898	G	C	55860898	3	2	120	1	0	0	0	0	1	0	0	0	11240	1377	48	5	117	5	OR8I2	11	55860898	Missense_Mutation	SNP	G	TCGA-E1-5303-01A-01D-1468-08		55860898	79145618	17	5453											
KIAA1377	57562	broad.mit.edu	37	chr11	101818852	101818852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtaaaccttcccttttcccGtagaccaacaataaactgga	14	10	5	12	1	0	1	0	0	0	1	2	2	2	2	4	1	3	2	4	1	7	6			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr11:101818852G>A	uc001pgm.3	+	3	755	c.485G>A	c.(484-486)cGt>cAt	p.R162H	KIAA1377_uc001pgn.3_Missense_Mutation_p.R118H|KIAA1377_uc009yxa.1_5'UTR	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	162							protein binding	p.R162S(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CCCTTTTCCCGTAGACCAACA	0.348													44	72					0	0	0.847076	0	0	A	101818852	G	A	101818852	3	1	120	1	0	0	0	0	1	0	0	0	8227	1145	40	1	499	1	KIAA1377	11	101818852	Missense_Mutation	SNP	G	TCGA-E1-5303-01A-01D-1468-08	45957954	101818852	33187664	18	5454											
ARID2	196528	broad.mit.edu	37	chr12	46242662	46242662	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atccagattgttctgtttctCgagcagaaatgtattctgaa	11	15	8	7	1	3	3	0	1	3	2	5	4	4	3	1	0	1	4	1	0	3	5			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr12:46242662C>T	uc001ros.1	+	12	1624	c.1624C>T	c.(1624-1626)Cga>Tga	p.R542*	ARID2_uc001ror.3_Nonsense_Mutation_p.R542*|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_Nonsense_Mutation_p.R169*|ARID2_uc001rou.1_5'Flank	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	542					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTCTGTTTCTCGAGCAGAAAT	0.343			"N, S, F"		hepatocellular carcinoma								46	91					0	0	0.853193	0	0	T	46242662	C	T	46242662	4	4	120	1	0	0	0	0	0	1	0	0	915	876	31	2	1674	2	ARID2	12	46242662	Nonsense_Mutation	SNP	C	TCGA-E1-5303-01A-01D-1468-08		46242662	87609233	19	5455											
MED13L	23389	broad.mit.edu	37	chr12	116460278	116460278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccttgaaatggtgcaggtGaagactgagccatgtgtata	12	11	12	6	0	0	4	0	3	0	1	0	4	0	4	2	2	3	2	2	2	5	4			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr12:116460278G>A	uc001tvw.3	-	4	663	c.608C>T	c.(607-609)tCa>tTa	p.S203L		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	203					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TGGTGCAGGTGAAGACTGAGC	0.473													13	34					0	0	0.457914	0	0	A	116460278	G	A	116460278	3	1	120	1	0	0	0	0	1	0	0	0	9431	1294	45	3	6132	3	MED13L	12	116460278	Missense_Mutation	SNP	G	TCGA-E1-5303-01A-01D-1468-08	70217616	116460278	17391617	20	5456											
OR11H4	390442	broad.mit.edu	37	chr14	20710969	20710969	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatgtctttcttctttgtaGacttaagacccatgaacagg	10	15	7	9	0	4	3	1	1	3	2	4	3	4	3	1	1	1	1	1	1	3	5			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr14:20710969G>C	uc010tld.2	+	0	19	c.19G>C	c.(19-21)Gac>Cac	p.D7H		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 4 (OR11H4), mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		CTTCTTTGTAGACTTAAGACC	0.418													4	98					0	0	0.217242	0	0	C	20710969	G	C	20710969	3	2	120	1	0	0	0	0	1	0	0	0	10928	942	33	5	21	5	OR11H4	14	20710969	Missense_Mutation	SNP	G	TCGA-E1-5303-01A-01D-1468-08		20710969	86638571	21	5457											
RPP25	54913	broad.mit.edu	37	chr15	75248608	75248608	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggcgggaggctctgcCacacctcgcgtacgctccgg	5	5	14	17	5	1	0	0	0	1	0	3	1	2	1	4	4	2	3	4	4	1	1			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr15:75248608C>T	uc002azj.1	-	0	1168	c.317G>A	c.(316-318)tGg>tAg	p.W106*		NM_017793	NP_060263	Q9BUL9	RPP25_HUMAN	Homo sapiens ribonuclease P/MRP 25kDa subunit (RPP25), mRNA.	106					tRNA processing	nucleus	RNA binding|protein binding|ribonuclease P activity			breast(1)|lung(1)	2						GAGGCTCTGCCACACCTCGCG	0.692													2	5					0	0	0.115264	0	0	T	75248608	C	T	75248608	4	4	120	1	0	0	0	0	0	1	0	0	13611	595	21	3	286	3	RPP25	15	75248608	Nonsense_Mutation	SNP	C	TCGA-E1-5303-01A-01D-1468-08		75248608	27282784	22	5458											
TP53	7157	broad.mit.edu	37	chr17	7577099	7577099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcctctgtgcgccggtctCtcccaggacaggcacaaaca	8	8	9	16	2	2	0	0	0	2	0	5	1	4	1	3	3	2	1	3	3	1	1	rs121912660		TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr17:7577099C>T	uc002gim.2	-	7	1033	c.839G>A	c.(838-840)aGa>aAa	p.R280K	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R280K|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R148K|TP53_uc010cnf.1_Missense_Mutation_p.R148K|TP53_uc002gii.1_Missense_Mutation_p.R148K|TP53_uc010cni.1_Missense_Mutation_p.R280K|TP53_uc010cnh.1_Missense_Mutation_p.R280K|TP53_uc002gij.2_Missense_Mutation_p.R280K|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.	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A 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(126)|p.R280K(96)|p.G279E(31)|p.R280I(30)|p.R280G(19)|p.R280S(15)|p.R280fs*65(8)|p.G279R(8)|p.R280*(8)|p.0?(8)|p.G279V(4)|p.R280_D281delRD(4)|p.G279G(3)|p.R280R(3)|p.A276_R283delACPGRDRR(2)|p.G279_R280delGR(2)|p.R280fs*62(2)|p.G279W(2)|p.G279fs*59(2)|p.F270_D281del12(2)|p.C275_R283delCACPGRDRR(2)|p.?(2)|p.L265_K305del41(2)|p.V272_K292del21(2)|p.G279fs*65(2)|p.G279fs*27(2)|p.A276fs*64(1)|p.S269fs*21(1)|p.P278_G279insXXXXX(1)|p.D281fs*24(1)|p.C275fs*20(1)|p.G279fs*26(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)		GCGCCGGTCTCTCCCAGGACA	0.542		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)			64	20					0	0	0.870114	0	0	T	7577099	C	T	7577099	3	4	120	1	0	0	0	0	1	0	0	0	16378	913	32	3	447	3	TP53	17	7577099	Missense_Mutation	SNP	C	TCGA-E1-5303-01A-01D-1468-08		7577099	73618111	23	5459											
SRCIN1	80725	broad.mit.edu	37	chr17	36714502	36714502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcctcgtcgttgagatagCgcagccgttcctcttccacc	5	11	9	16	4	1	1	0	1	1	1	6	2	4	1	5	0	2	4	5	0	1	4			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr17:36714502C>T	uc002hqd.3	-	10	2387	c.2162G>A	c.(2161-2163)cGc>cAc	p.R721H	SRCIN1_uc002hqf.1_Missense_Mutation_p.R593H|SRCIN1_uc002hqe.2_Missense_Mutation_p.R575H|SRCIN1_uc002hqg.3_Missense_Mutation_p.R27H	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA.	593					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GTTGAGATAGCGCAGCCGTTC	0.701											OREG0024362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	49					0	0	0.840704	0	0	T	36714502	C	T	36714502	3	4	120	1	0	0	0	0	1	0	0	0	15135	768	27	1	1425	1	SRCIN1	17	36714502	Missense_Mutation	SNP	C	TCGA-E1-5303-01A-01D-1468-08	29137403	36714502	44480708	24	5460											
C17orf62	79415	broad.mit.edu	37	chr17	80407088	80407088	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgcctggagccctcttcaGatggaggcgggagctggtgc	6	8	17	10	1	2	1	1	0	1	1	2	5	2	4	2	5	4	1	2	5	0	1			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr17:80407088G>C	uc021ufq.1	-	1	377	c.43C>G	c.(43-45)Ctg>Gtg	p.L15V	C17orf62_uc002key.3_5'Flank|C17orf62_uc010dir.3_Missense_Mutation_p.L15V|C17orf62_uc021ufr.1_Intron|C17orf62_uc021ufs.1_Missense_Mutation_p.L15V|C17orf62_uc002kfb.4_Missense_Mutation_p.L15V|C17orf62_uc002kfc.4_Missense_Mutation_p.L15V|C17orf62_uc002kfd.4_5'UTR|C17orf62_uc002kfa.3_Missense_Mutation_p.L15V|C17orf62_uc002kfe.4_Intron|C17orf62_uc021uft.1_Missense_Mutation_p.L15V|C17orf62_uc021ufu.1_Intron|C17orf62_uc010dis.2_Missense_Mutation_p.L15V	NM_001193655	NP_001180586	Q9BQA9	CQ062_HUMAN	Homo sapiens chromosome 17 open reading frame 62 (C17orf62), transcript variant 6, mRNA.	15						integral to membrane	protein binding			breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GCCCTCTTCAGATGGAGGCGG	0.617													11	3					0	0	0.411799	0	0	C	80407088	G	C	80407088	3	2	120	1	0	0	0	0	1	0	0	0	1870	933	33	5	544	5	C17orf62	17	80407088	Missense_Mutation	SNP	G	TCGA-E1-5303-01A-01D-1468-08	43692586	80407088	788122	25	5461											
EMILIN2	84034	broad.mit.edu	37	chr18	2913269	2913269	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcccgggggcattccaccTcatcgtgcacctgaaggcgg	6	6	15	14	3	1	1	1	1	0	0	3	1	2	1	4	5	1	2	4	5	1	1			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr18:2913269T>C	uc002kln.3	+	7	3188	c.3029T>C	c.(3028-3030)cTc>cCc	p.L1010P		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	1010	C1q.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GCATTCCACCTCATCGTGCAC	0.592													32	57					0	0	0.750413	0	0	C	2913269	T	C	2913269	3	2	120	1	0	0	0	0	1	0	0	0	5094	1551	54	4	3059	4	EMILIN2	18	2913269	Missense_Mutation	SNP	T	TCGA-E1-5303-01A-01D-1468-08		2913269	75163979	26	5462											
FZR1	51343	broad.mit.edu	37	chr19	3532532	3532532	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctggcctcggggggcGgcacagctgaccgctgtatc	4	7	17	13	3	0	1	0	1	0	0	2	1	0	1	2	6	2	6	2	6	1	1			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr19:3532532G>C	uc010dtk.2	+	9	1160	c.1126G>C	c.(1126-1128)Ggc>Cgc	p.G376R	FZR1_uc002lxt.2_Missense_Mutation_p.G376R|FZR1_uc002lxv.2_Missense_Mutation_p.G287R	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA.	376					DNA repair|G2/M transition DNA damage checkpoint|S phase of mitotic cell cycle|activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCGGGGGGCGGCACAGCTGA	0.652													7	53					0	0	0.248553	0	0	C	3532532	G	C	3532532	3	2	120	1	0	0	0	0	1	0	0	0	6138	1116	39	5	1164	5	FZR1	19	3532532	Missense_Mutation	SNP	G	TCGA-E1-5303-01A-01D-1468-08		3532532	55596451	27	5463											
CHD6	84181	broad.mit.edu	37	chr20	40045243	40045243	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccttgtggatctgggcCgccaatgctgcgccgttgct	4	11	12	14	3	2	0	1	0	1	0	2	1	2	1	4	2	3	3	4	2	1	2			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr20:40045243C>T	uc002xka.1	-	32	6649	c.6471G>A	c.(6469-6471)gcG>gcA	p.A2157A	CHD6_uc002xjz.1_5'Flank	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	2157					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGATCTGGGCCGCCAATGCTG	0.552													79	161					0	0	0.870114	0	0	T	40045243	C	T	40045243	2	4	120	1	0	0	0	0	0	0	0	1	3329	639	23	2		2	CHD6	20	40045243	Silent	SNP	C	TCGA-E1-5303-01A-01D-1468-08		40045243	22980277	28	5464											
ZFX	7543	broad.mit.edu	37	chrX	24229263	24229263	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtagaaagggatttaggCaacagagtgagcttaaaaag	17	8	13	3	0	0	3	0	1	0	2	0	5	0	4	0	2	2	3	0	2	7	4			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chrX:24229263C>T	uc011mjv.2	+	9	2554	c.2305C>T	c.(2305-2307)Caa>Taa	p.Q769*	ZFX_uc004dbd.2_Nonsense_Mutation_p.Q730*|ZFX_uc004dbf.3_Nonsense_Mutation_p.Q730*|ZFX_uc004dbe.3_3'UTR|ZFX_uc022bua.1_Nonsense_Mutation_p.Q730*|ZFX_uc010nfx.2_Nonsense_Mutation_p.Q501*|ZFX_uc010nfz.3_Nonsense_Mutation_p.Q386*	NM_001178086	NP_001171557	P17010	ZFX_HUMAN	Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA.	730					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						GGGATTTAGGCAACAGAGTGA	0.408													10	167					0	0	0.361761	0	0	T	24229263	C	T	24229263	4	4	120	1	0	0	0	0	0	1	0	0	17658	711	25	3	2273	3	ZFX	23	24229263	Nonsense_Mutation	SNP	C	TCGA-E1-5303-01A-01D-1468-08		24229263	131041297	29	5465											
GAGE2B	645037	broad.mit.edu	37	chrX	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT																															gttggcgaggaagatcgaccINStatcggcctagaccaagacg																										TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chrX:49208295_49208296insTAT	uc004dnv.4	+	1	140_141	c.24_25insTAT	c.(22-27)insTAT	p.9_10insY	GAGE2B_uc004dnl.4_Intron|GAGE2B_uc022bwc.1_Intron|GAGE2B_uc011mne.2_Intron|GAGE2B_uc004dnn.4_Intron|GAGE2B_uc011mnf.2_Intron|GAGE2B_uc004dnq.4_Intron|GAGE2B_uc004dnr.4_Intron|GAGE2B_uc004dnk.4_Intron|GAGE2B_uc004dno.4_Intron|GAGE2B_uc004dnp.4_Intron|GAGE2B_uc010njc.3_In_Frame_Ins_p.9_10insY|GAGE2B_uc004dnt.4_In_Frame_Ins_p.9_10insY|GAGE2B_uc004dnu.4_In_Frame_Ins_p.9_10insY	NM_001127212	NP_001091881			Homo sapiens G antigen 2A (GAGE2A), mRNA.																		GAAGATCGACCTATCGGCCTAG	0.465													9	31	---	---	---	---						TAT	49208296	-	TAT	49208295	7	5	120	1	0	1	1	0	0	0	0	0	6191	668	24	0		0	GAGE2B	23	49208295	In_Frame_Ins	INS	-	TCGA-E1-5303-01A-01D-1468-08	24979032	49208295	106062265	30	5466											
ATRX	546	broad.mit.edu	37	chrX	76939929	76939930	+	Frame_Shift_Ins	INS	-	-	A																															atgcagtgaccaagtccaacINSaaaggctctgggtgacaaat																										TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chrX:76939929_76939930insA	uc004ecp.4	-	8	1050_1051	c.818_819insT	c.(817-819)ttgfs	p.L273fs	ATRX_uc004ecq.4_Frame_Shift_Ins_p.L235fs|ATRX_uc004eco.4_Frame_Shift_Ins_p.L58fs|ATRX_uc004ecr.2_Frame_Shift_Ins_p.L234fs|ATRX_uc010nlx.1_Frame_Shift_Ins_p.L273fs|ATRX_uc010nly.1_Frame_Shift_Ins_p.L218fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	273	ADD.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CCAAGTCCAACAAAGGCTCTGG	0.381			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						232	122	---	---	---	---						A	76939930	-	A	76939929	7	5	120	1	0	1	1	0	0	0	0	0	1208	477	17	0	6767	0	ATRX	23	76939929	Frame_Shift_Ins	INS	-	TCGA-E1-5303-01A-01D-1468-08	27731634	76939929	78330631	31	5467											
RPS6KA1	6195	broad.mit.edu	37	chr1	26898350	26898350	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgccaggtgctgaagcGccagggctacgatgaaggct	8	8	15	10	2	0	2	0	2	0	0	0	3	0	2	2	3	4	4	2	3	3	2			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr1:26898350G>T	uc001bmr.1	+	18	1926	c.1763G>T	c.(1762-1764)cGc>cTc	p.R588L	RPS6KA1_uc010ofe.1_Missense_Mutation_p.R496L|RPS6KA1_uc010off.1_Missense_Mutation_p.R572L|RPS6KA1_uc001bms.1_Missense_Mutation_p.R597L|RPS6KA1_uc009vsl.1_Missense_Mutation_p.R431L	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA.	588	Protein kinase 2.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GTGCTGAAGCGCCAGGGCTAC	0.627													27	35					3.00307e-07	3.2228e-07	0.037714	1	0	T	26898350	G	T	26898350	3	4	121	1	0	0	0	0	1	0	0	0	13650	1087	38	5	1976	5	RPS6KA1	1	26898350	Missense_Mutation	SNP	G	TCGA-E1-5304-01A-01D-1468-08		26898350	222352271	1	5468											
GBP3	2635	broad.mit.edu	37	chr1	89486247	89486247	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagctagcttgttcatcaggTaggattttcctgtgcggtag	7	14	12	8	1	2	0	2	0	0	0	3	1	3	1	1	3	3	5	1	3	3	7			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr1:89486247T>C	uc001dmt.3	-	1	363	c.158A>G	c.(157-159)tAc>tGc	p.Y53C	GBP3_uc010oss.2_5'UTR|GBP3_uc001dmu.3_5'UTR|GBP3_uc001dmv.3_Non-coding_Transcript|GBP3_uc021opp.1_Missense_Mutation_p.Y53C	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN	Homo sapiens guanylate binding protein 3 (GBP3), mRNA.	53						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		GTTCATCAGGTAGGATTTTCC	0.517													30	159					0	0	0.030593	0	0	C	89486247	T	C	89486247	3	2	121	1	0	0	0	0	1	0	0	0	6275	1638	57	3	1669	3	GBP3	1	89486247	Missense_Mutation	SNP	T	TCGA-E1-5304-01A-01D-1468-08	62587897	89486247	159764374	2	5469											
ABCB10	23456	broad.mit.edu	37	chr1	229685030	229685030	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattggcggcagcaccacaCagaaacacggcactgagccc	12	3	11	15	2	0	2	0	1	0	1	0	2	0	2	2	3	3	4	2	3	1	1			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr1:229685030C>G	uc001htp.4	-	1	712	c.669G>C	c.(667-669)ctG>ctC	p.L223L		NM_012089	NP_036221	Q9NRK6	ABCBA_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 10 (ABCB10), nuclear gene encoding mitochondrial protein, mRNA.	223	ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CAGCACCACACAGAAACACGG	0.522													15	68					0	0	0.012319	0	0	G	229685030	C	G	229685030	2	3	121	1	0	0	0	0	0	0	0	1	41	465	17	5		5	ABCB10	1	229685030	Silent	SNP	C	TCGA-E1-5304-01A-01D-1468-08	140198783	229685030	19565591	3	5470											
ETAA1	54465	broad.mit.edu	37	chr2	67631847	67631847	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccgaacatggagccaaaaAcatgtttgctatatctaaac	15	11	6	9	1	1	0	0	0	1	0	2	2	2	1	2	1	5	2	2	1	7	5			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr2:67631847A>G	uc002sdz.1	+	4	2172	c.2033A>G	c.(2032-2034)aAc>aGc	p.N678S		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	Homo sapiens Ewing tumor-associated antigen 1 (ETAA1), mRNA.	678						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GGAGCCAAAAACATGTTTGCT	0.363													90	110					0	0	0.01441	0	0	G	67631847	A	G	67631847	3	3	121	1	0	0	0	0	1	0	0	0	5267	43	2	3	2051	3	ETAA1	2	67631847	Missense_Mutation	SNP	A	TCGA-E1-5304-01A-01D-1468-08		67631847	175567526	4	5471											
ALMS1	7840	broad.mit.edu	37	chr2	73718168	73718168	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagtcagccccaaatcacTgtacattagcagcatctgca	12	8	6	15	0	3	0	2	0	1	0	3	0	3	0	3	0	5	4	3	0	3	2			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr2:73718168T>G	uc002sje.1	+	9	9190	c.9079T>G	c.(9079-9081)Tgt>Ggt	p.C3027G	ALMS1_uc002sjf.1_Missense_Mutation_p.C2985G|ALMS1_uc002sjg.3_Missense_Mutation_p.C2415G|ALMS1_uc002sjh.1_Missense_Mutation_p.C2415G	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	3027					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCCAAATCACTGTACATTAGC	0.378													64	195					0	0	0.01441	0	0	G	73718168	T	G	73718168	3	3	121	1	0	0	0	0	1	0	0	0	535	1580	55	5	9117	5	ALMS1	2	73718168	Missense_Mutation	SNP	T	TCGA-E1-5304-01A-01D-1468-08	6086321	73718168	169481205	5	5472											
NAT8	9027	broad.mit.edu	37	chr2	73868641	73868641	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtatgagggttcgaggcaGcttcagcaattgccggaagg	10	8	16	7	2	1	1	1	1	0	0	2	4	1	2	1	4	3	5	1	4	3	4			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr2:73868641G>C	uc021vjj.1	-	0	115	c.115C>G	c.(115-117)Ctg>Gtg	p.L39V	NAT8_uc002sji.1_Missense_Mutation_p.L39V	NM_003960	NP_003951	Q9UHE5	NAT8_HUMAN	Homo sapiens N-acetyltransferase 8 (GCN5-related, putative) (NAT8), mRNA.	39					gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						GTTCGAGGCAGCTTCAGCAAT	0.622													63	209					0	0	0.01441	0	0	C	73868641	G	C	73868641	3	2	121	1	0	0	0	0	1	0	0	0	10179	962	34	5	572	5	NAT8	2	73868641	Missense_Mutation	SNP	G	TCGA-E1-5304-01A-01D-1468-08	150473	73868641	169330732	6	5473											
ANKRD36	375248	broad.mit.edu	37	chr2	97875420	97875420	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccttttgcttttcagtgTcttctcggaaaaaaccagcc	9	14	6	12	1	3	0	1	0	2	0	5	1	4	1	3	1	3	1	3	1	3	5			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr2:97875420T>G	uc010yva.2	+	54	3512	c.3268T>G	c.(3268-3270)Tct>Gct	p.S1090A		NM_001164315	NP_001157787	A6QL64	AN36A_HUMAN	Homo sapiens ankyrin repeat domain 36 (ANKRD36), mRNA.	1090										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CTTTTCAGTGTCTTCTCGGAA	0.358													14	95					0	0	0.007413	0	0	G	97875420	T	G	97875420	3	3	121	1	0	0	0	0	1	0	0	0	665	1667	58	5	3486	5	ANKRD36	2	97875420	Missense_Mutation	SNP	T	TCGA-E1-5304-01A-01D-1468-08	24006779	97875420	145323953	7	5474											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								107	83					0	0	0.01441	0	0	T	209113112	C	T	209113112	3	4	121	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-5304-01A-01D-1468-08	111237692	209113112	34086261	8	5475											
KCNJ13	3769	broad.mit.edu	37	chr2	233633140	233633140	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggatgtcctcctttggcAtatttctccagtgccctcct	5	15	8	13	0	1	0	0	0	1	0	5	1	4	1	5	2	1	2	5	2	2	4			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr2:233633140A>G	uc002vto.3	-	1	887	c.844T>C	c.(844-846)Tgc>Cgc	p.C282R	GIGYF2_uc010zmj.1_Intron|GIGYF2_uc002vtg.2_Intron|GIGYF2_uc002vtj.4_Intron|GIGYF2_uc002vti.4_Intron|GIGYF2_uc002vtk.4_Intron|GIGYF2_uc002vth.4_Intron|GIGYF2_uc010zmk.2_Intron|GIGYF2_uc010zml.1_Intron|KCNJ13_uc002vtn.3_3'UTR|KCNJ13_uc002vtp.3_Missense_Mutation_p.C282R|KCNJ13_uc021vyk.1_Missense_Mutation_p.C202R	NM_001172417	NP_001165888	O60928	IRK13_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 13 (KCNJ13), transcript variant 3, mRNA.	282						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		CTCCTTTGGCATATTTCTCCA	0.433													131	120					0	0	0.01441	0	0	G	233633140	A	G	233633140	3	3	121	1	0	0	0	0	1	0	0	0	8047	217	8	3	242	3	KCNJ13	2	233633140	Missense_Mutation	SNP	A	TCGA-E1-5304-01A-01D-1468-08	24520028	233633140	9566233	9	5476											
FYCO1	79443	broad.mit.edu	37	chr3	46014621	46014621	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcatccaagtcaaagcccctCgacgccaggtcaaactgaac	13	5	8	15	2	2	1	2	1	0	0	4	2	3	1	4	1	3	1	4	1	4	0	rs149291592	byFrequency	TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr3:46014621C>T	uc011bal.1	-	4	610	c.498G>A	c.(496-498)tcG>tcA	p.S166S	FYCO1_uc003cpb.4_Silent_p.S166S	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	166	RUN.				transport	integral to membrane	metal ion binding|protein binding	p.A165V(1)		NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CAAAGCCCCTCGACGCCAGGT	0.483													26	74					0	0	0.021523	0	0	T	46014621	C	T	46014621	2	4	121	1	0	0	0	0	0	0	0	1	6125	871	31	2		2	FYCO1	3	46014621	Silent	SNP	C	TCGA-E1-5304-01A-01D-1468-08		46014621	152007809	10	5477											
EPHA3	2042	broad.mit.edu	37	chr3	89448615	89448615	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagccgcaagtttgagtttGaaactagtccagactgtatg	12	11	10	8	1	0	3	0	2	0	1	1	3	1	3	2	0	2	4	2	0	4	4			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr3:89448615G>T	uc003dqy.3	+	6	1804	c.1579G>T	c.(1579-1581)Gaa>Taa	p.E527*	EPHA3_uc003dqx.1_Nonsense_Mutation_p.E527*|EPHA3_uc021xbf.1_Nonsense_Mutation_p.E527*	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	527	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GTTTGAGTTTGAAACTAGTCC	0.448										TSP Lung(6;0.00050)			30	92					1.57351e-24	1.77525e-24	0.017118	1	0	T	89448615	G	T	89448615	4	4	121	1	0	0	0	0	0	1	0	0	5168	1291	45	5	1605	5	EPHA3	3	89448615	Nonsense_Mutation	SNP	G	TCGA-E1-5304-01A-01D-1468-08	43433994	89448615	108573815	11	5478											
C3orf52	79669	broad.mit.edu	37	chr3	111835572	111835572	+	Frame_Shift_Del	DEL	G	G	-																															ggaattcactctgttttgcaGaaaagattctgtggattaat																										TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr3:111835572delG	uc011bhs.2	+	3	553	c.480delG	c.(478-480)cagfs	p.Q160fs	C3orf52_uc003dyq.4_3'UTR|C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Non-coding_Transcript	NM_001171747	NP_001165218	Q5BVD1	TTMP_HUMAN	Homo sapiens chromosome 3 open reading frame 52 (C3orf52), transcript variant 1, mRNA.	0						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						CTGTTTTGCAGAAAAGATTCT	0.458													7	8	---	---	---	---						-	111835572	G	-	111835572	7	5	121	1	0	1	0	1	0	0	0	0	2232	933	33	0	755	0	C3orf52	3	111835572	Frame_Shift_Del	DEL	G	TCGA-E1-5304-01A-01D-1468-08	22386957	111835572	86186858	12	5479											
KIAA1407	57577	broad.mit.edu	37	chr3	113761686	113761686	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctaaccagtcattgaccagCtcctgagctacaataaaaca	15	9	5	12	0	2	2	1	2	1	0	3	2	3	2	3	0	5	2	3	0	5	4			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr3:113761686C>T	uc003eax.3	-	3	426	c.279G>A	c.(277-279)gaG>gaA	p.E93E	KIAA1407_uc011bin.1_Non-coding_Transcript|KIAA1407_uc011bio.1_Silent_p.E71E|KIAA1407_uc011bip.1_Silent_p.E80E	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	93										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CATTGACCAGCTCCTGAGCTA	0.333													48	137					0	0	0.01441	0	0	T	113761686	C	T	113761686	2	4	121	1	0	0	0	0	0	0	0	1	8229	796	28	3		3	KIAA1407	3	113761686	Silent	SNP	C	TCGA-E1-5304-01A-01D-1468-08	1926114	113761686	84260744	13	5480											
CNGA1	1259	broad.mit.edu	37	chr4	47938995	47938995	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatatcccctttcttgcaaaTataatctccaggactgtaga	12	13	6	10	0	2	1	0	0	2	1	4	3	3	2	3	1	1	2	3	1	5	6			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr4:47938995T>A	uc003gxu.3	-	9	1864	c.1723A>T	c.(1723-1725)Att>Ttt	p.I575F	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.I506F	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	506					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TTCTTGCAAATATAATCTCCA	0.438													16	283					0	0	0.0333	0	0	A	47938995	T	A	47938995	3	1	121	1	0	0	0	0	1	0	0	0	3596	1406	49	5	560	5	CNGA1	4	47938995	Missense_Mutation	SNP	T	TCGA-E1-5304-01A-01D-1468-08		47938995	143215281	14	5481											
COL25A1	84570	broad.mit.edu	37	chr4	109765700	109765700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccaggtgggccatggggaCctggtgggcctggtgggcct	3	7	21	10	0	0	0	0	0	0	0	0	1	0	1	5	9	0	0	5	9	0	0			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr4:109765700C>T	uc021xqo.1	-	28	1660	c.1604G>A	c.(1603-1605)gGt>gAt	p.G535D	COL25A1_uc003hze.1_Missense_Mutation_p.G535D|COL25A1_uc021xqp.1_Missense_Mutation_p.G535D|COL25A1_uc003hzg.3_Missense_Mutation_p.G535D|COL25A1_uc003hzd.3_Non-coding_Transcript|COL25A1_uc003hzf.3_Missense_Mutation_p.G293D	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	535						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		gccatggggacctggtgggcc	0.433													48	100					0	0	0.01441	0	0	T	109765700	C	T	109765700	3	4	121	1	0	0	0	0	1	0	0	0	3684	507	18	3	480	3	COL25A1	4	109765700	Missense_Mutation	SNP	C	TCGA-E1-5304-01A-01D-1468-08	61826705	109765700	81388576	15	5482											
PKHD1	5314	broad.mit.edu	37	chr6	51513908	51513908	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catccaaaaataccaattgtGgctgcactggaagctcattt	13	11	7	10	0	1	0	1	0	0	0	2	1	2	1	2	2	3	3	2	2	5	3			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr6:51513908G>T	uc003pah.1	-	61	11561	c.11285C>A	c.(11284-11286)cCa>cAa	p.P3762Q		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3762					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)					TACCAATTGTGGCTGCACTGG	0.413													82	132					1.55521e-42	1.84944e-42	0.01441	1	0	T	51513908	G	T	51513908	3	4	121	1	0	0	0	0	1	0	0	0	11971	1348	47	5	963	5	PKHD1	6	51513908	Missense_Mutation	SNP	G	TCGA-E1-5304-01A-01D-1468-08		51513908	119601159	16	5483											
PHF3	23469	broad.mit.edu	37	chr6	64356551	64356551	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggagaatgaagtctgtgAggattttagtgcaagtcaaa	13	11	12	5	0	2	3	1	2	1	1	2	5	2	4	1	2	1	1	1	2	5	2			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr6:64356551A>G	uc003pep.1	+	0	120	c.95A>G	c.(94-96)gAg>gGg	p.E32G	PHF3_uc010kaf.1_Missense_Mutation_p.E32G|PHF3_uc003pem.2_5'UTR|PHF3_uc010kag.1_Intron|PHF3_uc010kah.1_Intron|PHF3_uc003pen.2_5'UTR|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.3_Missense_Mutation_p.E32G	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	32					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GAAGTCTGTGAGGATTTTAGT	0.393													49	143					0	0	0.01441	0	0	G	64356551	A	G	64356551	3	3	121	1	0	0	0	0	1	0	0	0	11836	304	11	4	97	4	PHF3	6	64356551	Missense_Mutation	SNP	A	TCGA-E1-5304-01A-01D-1468-08	12842643	64356551	106758516	17	5484											
MAP3K5	4217	broad.mit.edu	37	chr6	136932510	136932510	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaccactgtaggtattaaTcaacacattgtcaccctaga	15	10	5	11	0	2	1	2	0	0	1	2	1	2	1	2	1	2	2	2	1	6	5			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr6:136932510T>C	uc003qhc.3	-	17	2792	c.2431A>G	c.(2431-2433)Att>Gtt	p.I811V	MAP3K5_uc011edj.2_Missense_Mutation_p.I58V|MAP3K5_uc011edk.1_Missense_Mutation_p.I656V	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	811	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TAGGTATTAATCAACACATTG	0.368													7	123					0	0	0.02938	0	0	C	136932510	T	C	136932510	3	2	121	1	0	0	0	0	1	0	0	0	9253	1435	50	3	1745	3	MAP3K5	6	136932510	Missense_Mutation	SNP	T	TCGA-E1-5304-01A-01D-1468-08	72575959	136932510	34182557	18	5485											
RINT1	60561	broad.mit.edu	37	chr7	105189063	105189063	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcttcctgcctccccttCtgtcatcctgcccatccagg	3	13	5	20	0	3	0	1	0	2	0	8	0	7	0	7	1	2	0	7	1	0	2			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr7:105189063C>A	uc003vda.1	+	6	1133	c.902C>A	c.(901-903)tCt>tAt	p.S301Y	RINT1_uc010ljj.1_Intron	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	Homo sapiens RAD50 interactor 1 (RINT1), mRNA.	301	RINT1/TIP20.				G2/M transition DNA damage checkpoint|cell cycle|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCCTCCCCTTCTGTCATCCTG	0.443													98	347					9.15355e-43	1.11877e-42	0.01441	1	0	A	105189063	C	A	105189063	3	1	121	1	0	0	0	0	1	0	0	0	13376	913	32	5	928	5	RINT1	7	105189063	Missense_Mutation	SNP	C	TCGA-E1-5304-01A-01D-1468-08		105189063	53949600	19	5486											
STK3	6788	broad.mit.edu	37	chr8	99779474	99779474	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaaatctcttcatacctgTcacattgctgcattatggaa	13	14	5	9	0	3	0	2	0	1	0	4	1	3	1	1	1	3	2	1	1	5	5			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr8:99779474T>C	uc003yio.3	-	4	791	c.317A>G	c.(316-318)gAc>gGc	p.D106G	STK3_uc003yip.3_Missense_Mutation_p.D78G|STK3_uc010mbm.1_Missense_Mutation_p.D78G	NM_006281	NP_006272	Q13188	STK3_HUMAN	Homo sapiens serine/threonine kinase 3 (STK3), transcript variant 1, mRNA.	78	Protein kinase.				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity	p.G105A(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		TTCATACCTGTCACATTGCTG	0.313													54	60					0	0	0.01441	0	0	C	99779474	T	C	99779474	3	2	121	1	0	0	0	0	1	0	0	0	15294	1667	58	3	1278	3	STK3	8	99779474	Missense_Mutation	SNP	T	TCGA-E1-5304-01A-01D-1468-08		99779474	46584548	20	5487											
CSMD3	114788	broad.mit.edu	37	chr8	113988170	113988170	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatgaggagagagcccgTccttggacgtgttggggtcc	6	9	17	9	2	0	2	0	1	0	1	2	6	2	5	3	5	1	1	3	5	0	2			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr8:113988170T>C	uc003ynu.3	-	6	1397	c.1238A>G	c.(1237-1239)gAc>gGc	p.D413G	CSMD3_uc003ynt.3_Missense_Mutation_p.D373G|CSMD3_uc011lhx.2_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	413						integral to membrane|plasma membrane		p.K412M(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGAGAGCCCGTCCTTGGACGT	0.478										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			73	265					0	0	0.01441	0	0	C	113988170	T	C	113988170	3	2	121	1	0	0	0	0	1	0	0	0	3946	1667	58	3	10145	3	CSMD3	8	113988170	Missense_Mutation	SNP	T	TCGA-E1-5304-01A-01D-1468-08	14208696	113988170	32375852	21	5488											
PLEC	5339	broad.mit.edu	37	chr8	145007212	145007212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggttgcaggggccgccaCgcctgccttcagccgtaggt	4	8	15	14	3	1	0	1	0	0	0	1	0	1	0	5	4	3	3	5	4	1	3			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr8:145007212C>T	uc003zaf.1	-	13	2067	c.1897G>A	c.(1897-1899)Gtg>Atg	p.V633M	PLEC_uc003zab.1_Missense_Mutation_p.V496M|PLEC_uc003zac.1_Missense_Mutation_p.V500M|PLEC_uc003zad.2_Missense_Mutation_p.V496M|PLEC_uc003zae.1_Missense_Mutation_p.V464M|PLEC_uc003zag.1_Missense_Mutation_p.V474M|PLEC_uc003zah.2_Missense_Mutation_p.V482M|PLEC_uc003zaj.2_Missense_Mutation_p.V523M	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	633	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGGGCCGCCACGCCTGCCTTC	0.662													3	4					0	0	0.008291	0	0	T	145007212	C	T	145007212	3	4	121	1	0	0	0	0	1	0	0	0	12052	536	19	1	12233	1	PLEC	8	145007212	Missense_Mutation	SNP	C	TCGA-E1-5304-01A-01D-1468-08	31019042	145007212	1356810	22	5489											
PCSK5	5125	broad.mit.edu	37	chr9	78965754	78965754	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctttcaggaaaaggagcGttgaattgtttatcctgtgt	9	16	10	6	1	2	1	1	1	1	0	4	3	3	3	1	2	1	2	1	2	4	5			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr9:78965754G>A	uc004akc.2	+	34	5434	c.4896G>A	c.(4894-4896)gcG>gcA	p.A1632A		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	797					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GAAAAGGAGCGTTGAATTGTT	0.448													129	128					0	0	0.01441	0	0	A	78965754	G	A	78965754	2	1	121	1	0	0	0	0	0	0	0	1	11603	1160	40	1		1	PCSK5	9	78965754	Silent	SNP	G	TCGA-E1-5304-01A-01D-1468-08		78965754	62247677	23	5490											
AKNA	80709	broad.mit.edu	37	chr9	117139492	117139492	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtcccactgctccaggaccTtgccgggctgagttcaacgg	6	9	12	14	2	1	1	1	1	0	0	3	2	3	2	4	3	3	3	4	3	1	2			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr9:117139492T>C	uc004biq.3	-	1	730	c.595A>G	c.(595-597)Agg>Ggg	p.R199G	AKNA_uc004bio.3_5'Flank|AKNA_uc004bip.3_Missense_Mutation_p.R118G|AKNA_uc004bir.3_Missense_Mutation_p.R199G|AKNA_uc004bis.3_Missense_Mutation_p.R199G|AKNA_uc010mve.2_Missense_Mutation_p.R80G|AKNA_uc004biu.1_Intron|AKNA_uc004biv.1_Missense_Mutation_p.R199G|AKNA_uc004biw.1_Missense_Mutation_p.R199G	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CTCCAGGACCTTGCCGGGCTG	0.612													87	61					0	0	0.01441	0	0	C	117139492	T	C	117139492	3	2	121	1	0	0	0	0	1	0	0	0	463	1608	56	4	3804	4	AKNA	9	117139492	Missense_Mutation	SNP	T	TCGA-E1-5304-01A-01D-1468-08	38173738	117139492	24073939	24	5491											
CHAT	1103	broad.mit.edu	37	chr10	50901834	50901834	+	Nonstop_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagctgtgttggccataGatggacatgaggtcatccta	9	11	11	10	0	1	2	1	1	0	1	3	3	3	3	3	3	1	2	3	3	2	3			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr10:50901834G>T	uc010qgs.1	+	14	1878	c.1638G>T	c.(1636-1638)taG>taT	p.*546Y	C10orf53_uc001jib.3_Missense_Mutation_p.D38Y|C10orf53_uc001jic.1_Missense_Mutation_p.D38Y|C10orf53_uc001jid.1_Missense_Mutation_p.D38Y	NM_020986	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant N2, mRNA.	0					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GTTGGCCATAGATGGACATGA	0.463													12	127					2.27111e-07	2.49822e-07	0.013537	1	0	T	50901834	G	T	50901834	4	4	121	1	0	0	0	0	0	0	0	0	3313	942	33	5		5	CHAT	10	50901834	Nonstop_Mutation	SNP	G	TCGA-E1-5304-01A-01D-1468-08		50901834	84632913	25	5492											
LGI1	9211	broad.mit.edu	37	chr10	95557106	95557106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtctagtagttcccagcGtcctgtaatttatcagtgga	8	15	9	9	1	3	0	1	0	2	0	5	1	5	1	2	1	1	3	2	1	4	6			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr10:95557106G>A	uc001kjc.4	+	7	1556	c.1220G>A	c.(1219-1221)cGt>cAt	p.R407H	LGI1_uc021pwk.1_Intron|LGI1_uc010qnv.2_Missense_Mutation_p.R359H|LGI1_uc009xui.3_Non-coding_Transcript	NM_005097	NP_005088	O95970	LGI1_HUMAN	Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA.	407					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				AGTTCCCAGCGTCCTGTAATT	0.433													113	82					0	0	0.01441	0	0	A	95557106	G	A	95557106	3	1	121	1	0	0	0	0	1	0	0	0	8751	1145	40	1	1250	1	LGI1	10	95557106	Missense_Mutation	SNP	G	TCGA-E1-5304-01A-01D-1468-08	44655272	95557106	39977641	26	5493											
PAX6	5080	broad.mit.edu	37	chr11	31815341	31815341	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatttggcccttcgattagAaaaccatacctggaaatcag	13	10	7	11	1	1	1	1	0	0	1	2	3	1	2	4	2	2	0	4	2	5	4			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr11:31815341A>G	uc009yjr.3	-	9	1244	c.775T>C	c.(775-777)Tct>Cct	p.S259P	PAX6_uc001mtd.4_Missense_Mutation_p.S259P|PAX6_uc001mte.4_Missense_Mutation_p.S259P|PAX6_uc001mtg.4_Missense_Mutation_p.S273P|PAX6_uc001mtf.4_Missense_Mutation_p.S259P|PAX6_uc001mth.4_Missense_Mutation_p.S259P|PAX6_uc021qfl.1_Missense_Mutation_p.S273P|PAX6_uc021qfm.1_Missense_Mutation_p.S273P|PAX6_uc021qfn.1_Missense_Mutation_p.S259P	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	Homo sapiens paired box 6 (PAX6), transcript variant 3, mRNA.	259					blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					CTTCGATTAGAAAACCATACC	0.522									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				78	5					0	0	0.01441	0	0	G	31815341	A	G	31815341	3	3	121	1	0	0	0	0	1	0	0	0	11483	246	9	3	509	3	PAX6	11	31815341	Missense_Mutation	SNP	A	TCGA-E1-5304-01A-01D-1468-08		31815341	103191175	27	5494											
AHNAK	79026	broad.mit.edu	37	chr11	62287998	62287998	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcaatgtccactttggggtCcctgatgtcaacttcggggc	7	12	11	11	1	2	1	2	1	0	0	5	1	4	1	2	4	1	0	2	4	2	2			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr11:62287998C>A	uc001ntl.3	-	4	14191	c.13891G>T	c.(13891-13893)Gac>Tac	p.D4631Y	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	4631			D -> G (in dbSNP:rs12801123).	RD -> KG (in Ref. 2; AAA69898).	nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACTTTGGGGTCCCTGATGTCA	0.522													100	338					2.6645e-62	3.34966e-62	0.01441	1	0	A	62287998	C	A	62287998	3	1	121	1	0	0	0	0	1	0	0	0	414	855	30	5	3901	5	AHNAK	11	62287998	Missense_Mutation	SNP	C	TCGA-E1-5304-01A-01D-1468-08	30472657	62287998	72718518	28	5495											
MMP19	4327	broad.mit.edu	37	chr12	56233333	56233333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcagcttaaagtggggcCggtagccctcgtagactggg	7	8	17	9	2	0	1	0	0	0	1	1	1	0	1	2	5	3	4	2	5	4	3	rs138516871		TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr12:56233333C>T	uc001sib.3	-	4	834	c.713G>A	c.(712-714)cGg>cAg	p.R238Q	MMP19_uc001sia.3_5'UTR|MMP19_uc001sid.3_Non-coding_Transcript|MMP19_uc010spw.2_Intron	NM_002429	NP_002420	Q99542	MMP19_HUMAN	Homo sapiens matrix metallopeptidase 19 (MMP19), transcript variant 1, mRNA.	238					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						AAAGTGGGGCCGGTAGCCCTC	0.617													18	63					0	0	0.007413	0	0	T	56233333	C	T	56233333	3	4	121	1	0	0	0	0	1	0	0	0	9657	652	23	2	833	2	MMP19	12	56233333	Missense_Mutation	SNP	C	TCGA-E1-5304-01A-01D-1468-08		56233333	77618562	29	5496											
DYNLL1	8655	broad.mit.edu	37	chr12	120935907	120935908	+	Frame_Shift_Ins	INS	-	-	TT																															aagtacaatcccacctggcaINSttgcatcgtggggaggaact																								rs142458935	by1000genomes	TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr12:120935907_120935908insTT	uc001tyj.3	+	2	418_419	c.164_165insTT	c.(163-165)catfs	p.H55fs	LOC100506668_uc001tyk.2_5'Flank|DYNLL1_uc001tyl.3_Frame_Shift_Ins_p.H55fs|DYNLL1_uc001tym.3_Frame_Shift_Ins_p.H55fs	NM_001037494	NP_003737	P63167	DYL1_HUMAN	Homo sapiens dynein, light chain, LC8-type 1 (DYNLL1), transcript variant 1, mRNA.	55					G2/M transition of mitotic cell cycle|actin cytoskeleton organization|activation of pro-apoptotic gene products|anatomical structure morphogenesis|female gamete generation|induction of apoptosis by intracellular signals|interspecies interaction between organisms|microtubule-based process|negative regulation of phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	centrosome|cytoplasmic dynein complex|cytosol|microtubule|mitochondrion|nucleus|plasma membrane	motor activity|protein binding					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCCACCTGGCATTGCATCGTGG	0.426													35	58	---	---	---	---						TT	120935908	-	TT	120935907	7	5	121	1	0	1	1	0	0	0	0	0	4848	217	8	0	170	0	DYNLL1	12	120935907	Frame_Shift_Ins	INS	-	TCGA-E1-5304-01A-01D-1468-08	64702574	120935907	12915988	30	5497											
CMA1	1215	broad.mit.edu	37	chr14	24976583	24976583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgcacaatgagcagccGtcagcacaaagttccgtctt	10	10	8	13	2	2	1	1	1	1	0	4	1	4	1	3	0	4	4	3	0	2	3	rs13306251	by1000genomes	TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr14:24976583G>A	uc001wpp.1	-	1	218	c.188C>T	c.(187-189)aCg>aTg	p.T63M	CMA1_uc010alx.1_Intron	NM_001836	NP_001827	P23946	CMA1_HUMAN	Homo sapiens chymase 1, mast cell (CMA1), mRNA.	63	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		ATGAGCAGCCGTCAGCACAAA	0.488													83	163					0	0	0.01441	0	0	A	24976583	G	A	24976583	3	1	121	1	0	0	0	0	1	0	0	0	3574	1145	40	1	571	1	CMA1	14	24976583	Missense_Mutation	SNP	G	TCGA-E1-5304-01A-01D-1468-08		24976583	82372957	31	5498											
EIF2AK4	440275	broad.mit.edu	37	chr15	40258023	40258023	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagtcaagaaaaagagaaGattgataagtgcaaaaagca	22	5	9	5	0	1	4	1	1	0	3	1	5	1	4	1	0	2	2	1	0	7	2			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr15:40258023G>A	uc001zkm.1	+	7	1046	c.996G>A	c.(994-996)aaG>aaA	p.K332K	EIF2AK4_uc001zkl.3_Silent_p.K332K|EIF2AK4_uc010bbj.1_Silent_p.K61K	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	332	Protein kinase 1.				translation	cytosolic ribosome	ATP binding|aminoacyl-tRNA ligase activity|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AAAAAGAGAAGATTGATAAGT	0.443													37	115					0	0	0.019004	0	0	A	40258023	G	A	40258023	2	1	121	1	0	0	0	0	0	0	0	1	4999	933	33	3		3	EIF2AK4	15	40258023	Silent	SNP	G	TCGA-E1-5304-01A-01D-1468-08		40258023	62273369	32	5499											
OSGIN1	29948	broad.mit.edu	37	chr16	83994303	83994303	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtcctcacctggaagcacCggaaggagcacgccatcccc	9	4	11	17	3	1	0	1	0	0	0	3	3	3	3	6	4	2	2	6	4	2	0			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr16:83994303C>T	uc002fha.3	+	4	583	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	OSGIN1_uc002fhb.3_Missense_Mutation_p.R112W|OSGIN1_uc002fhc.3_Missense_Mutation_p.R112W	NM_182981	NP_892026	Q9UJX0	OSGI1_HUMAN	Homo sapiens oxidative stress induced growth inhibitor 1 (OSGIN1), nuclear gene encoding mitochondrial protein, mRNA.	195					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CTGGAAGCACCGGAAGGAGCA	0.657													21	101					0	0	0.014323	0	0	T	83994303	C	T	83994303	3	4	121	1	0	0	0	0	1	0	0	0	11289	643	23	2	601	2	OSGIN1	16	83994303	Missense_Mutation	SNP	C	TCGA-E1-5304-01A-01D-1468-08		83994303	6360450	33	5500											
TP53	7157	broad.mit.edu	37	chr17	7578550	7578550	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acatcttgttgagggcagggGagtactgtaggaagaggaag	12	8	17	4	0	1	2	0	1	1	1	1	5	1	5	0	5	1	4	0	5	4	4			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr17:7578550G>T	uc002gim.2	-	4	574	c.380C>A	c.(379-381)tCc>tAc	p.S127Y	TP53_uc002gig.1_Missense_Mutation_p.S127Y|TP53_uc002gih.3_Missense_Mutation_p.S127Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Missense_Mutation_p.S127Y|TP53_uc010cnh.1_Missense_Mutation_p.S127Y|TP53_uc002gij.2_Missense_Mutation_p.S127Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.S34Y|TP53_uc002gio.2_5'UTR|TP53_uc010vug.2_Missense_Mutation_p.S88Y	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	127	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.S127F(44)|p.S127Y(16)|p.Y126_K132delYSPALNK(12)|p.S127C(10)|p.Y126*(10)|p.0?(8)|p.S127T(6)|p.Y126N(6)|p.Y126_N131delYSPALN(6)|p.Y126D(5)|p.S127P(4)|p.Y126C(4)|p.A129fs*20(3)|p.S127_Q136del10(2)|p.S127fs*42(2)|p.Y126fs*11(2)|p.P128fs*42(2)|p.S34C(2)|p.Y126fs*44(2)|p.Y126S(2)|p.Y126fs*18(2)|p.S127fs*36(2)|p.Y126Y(1)|p.S127S(1)|p.T125_Y126insX(1)|p.V73fs*9(1)|p.S127fs*43(1)|p.S127fs*22(1)|p.Y126_S127insQPHH(1)|p.S34F(1)|p.?(1)|p.A36fs*20(1)|p.P13fs*18(1)|p.P128fs*18(1)|p.Y126fs*24(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)		GAGGGCAGGGGAGTACTGTAG	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	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)			44	0					1.00001e-27	1.1579e-27	0.036044	1	0	T	7578550	G	T	7578550	3	4	121	1	0	0	0	0	1	0	0	0	16378	1174	41	5	918	5	TP53	17	7578550	Missense_Mutation	SNP	G	TCGA-E1-5304-01A-01D-1468-08		7578550	73616660	34	5501											
ALKBH6	84964	broad.mit.edu	37	chr19	36501795	36501795	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggccgagggtgtgtggttaCcatgatgccctccccaggca	6	8	15	12	1	0	1	0	1	0	0	1	2	1	1	5	4	2	2	5	4	1	1			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr19:36501795C>T	uc002ocv.1	-	5	426	c.420_splice	c.e5+1	p.M140_splice	C19orf46_uc021utd.1_5'Flank|C19orf46_uc002ocr.1_5'Flank|C19orf46_uc002ocs.1_5'Flank|C19orf46_uc002ocq.1_5'Flank|C19orf46_uc010een.1_5'Flank|ALKBH6_uc002ocw.1_Splice_Site_p.M140_splice|ALKBH6_uc002ocx.1_Splice_Site_p.M43_splice|ALKBH6_uc010eeo.1_Splice_Site_p.M112_splice|ALKBH6_uc010eep.1_Missense_Mutation_p.V141I	NM_032878	NP_116267	Q3KRA9	ALKB6_HUMAN	Homo sapiens alkB, alkylation repair homolog 6 (E. coli) (ALKBH6), transcript variant 2, mRNA.	112	Fe2OG dioxygenase.					cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGTGTGGTTACCATGATGCCC	0.592													35	88					0	0	0.015359	0	0	T	36501795	C	T	36501795	5	4	121	1	0	0	0	0	0	0	1	0	531	521	18	3	391	3	ALKBH6	19	36501795	Splice_Site	SNP	C	TCGA-E1-5304-01A-01D-1468-08		36501795	22627188	35	5502											
ATRX	546	broad.mit.edu	37	chrX	76814313	76814313	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagaaatgataaataatcGtcctctgaaaatgaaaatat	20	11	6	4	1	1	4	0	3	1	1	3	4	2	4	1	0	0	1	1	0	10	4			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chrX:76814313G>A	uc004ecp.4	-	28	6563	c.6331C>T	c.(6331-6333)Cga>Tga	p.R2111*	ATRX_uc004ecq.4_Nonsense_Mutation_p.R2073*|ATRX_uc004eco.4_Nonsense_Mutation_p.R1896*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2111	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.R2111*(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATAAATAATCGTCCTCTGAAA	0.274			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						69	1					0	0	0.01441	0	0	A	76814313	G	A	76814313	4	1	121	1	0	0	0	0	0	1	0	0	1208	1153	40	1	1175	1	ATRX	23	76814313	Nonsense_Mutation	SNP	G	TCGA-E1-5304-01A-01D-1468-08		76814313	78456247	36	5503											
IRS4	8471	broad.mit.edu	37	chrX	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C																															tcccacttcctgagcctttgINSccccccccagagttcttgcc																										TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chrX:107977802_107977803insC	uc004eoc.2	-	0	1805_1806	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	591						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545													8	421	---	---	---	---						C	107977803	-	C	107977802	7	5	121	1	0	1	1	0	0	0	0	0	7842	1306	46	0	2004	0	IRS4	23	107977802	Frame_Shift_Ins	INS	-	TCGA-E1-5304-01A-01D-1468-08	31163489	107977802	47292758	37	5504											
NBPF1	55672	broad.mit.edu	37	chr1	16918422	16918424	+	In_Frame_Del	DEL	TTG	TTG	-																															tgaggtttctgaactgctgtTtgttctctgccagctggggg																								rs9730077	by1000genomes	TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:16918422_16918424delTTG	uc009vos.1	-	6	981_983	c.93_95delCAA	c.(91-96)aacaaa>aaa	p.N31del	NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	31			N -> K (in dbSNP:rs9730077).			cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GAACTGCTGTTTGTTCTCTGCCA	0.488													15	1124	---	---	---	---						-	16918424	TTG	-	16918422	7	5	122	1	0	1	0	1	0	0	0	0	10192	1841	64	0	3421	0	NBPF1	1	16918422	In_Frame_Del	DEL	TTG	TCGA-E1-5305-01A-01D-1893-08		16918422	232332199	1	5505											
HNRNPR	10236	broad.mit.edu	37	chr1	23665036	23665038	+	In_Frame_Del	DEL	CTT	CTT	-																															ctgtagtacagacagagctcCttcttcattaaattccctga																										TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:23665036_23665038delCTT	uc001bgr.4	-	2	380_382	c.221_223delAAG	c.(220-225)gaagga>gga	p.E74del	HNRNPR_uc010odw.2_In_Frame_Del_p.E74del|HNRNPR_uc009vql.3_5'UTR|HNRNPR_uc001bgp.4_In_Frame_Del_p.E74del|HNRNPR_uc001bgs.4_5'UTR|HNRNPR_uc009vqk.3_5'UTR|HNRNPR_uc010odx.2_5'UTR	NM_005826	NP_001095867	O43390	HNRPR_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein R (HNRNPR), transcript variant 2, mRNA.	74	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		GACAGAGCTCCTTCTTCATTAAA	0.365													12	85	---	---	---	---						-	23665038	CTT	-	23665036	7	5	122	1	0	1	0	1	0	0	0	0	7272	690	24	0	1723	0	HNRNPR	1	23665036	In_Frame_Del	DEL	CTT	TCGA-E1-5305-01A-01D-1893-08	6746614	23665036	225585585	2	5506											
AKNAD1	254268	broad.mit.edu	37	chr1	109380254	109380254	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagggaaggagctgaagtaTatttgctttcatccattttc	11	14	10	6	0	1	1	1	1	0	0	3	4	2	3	1	2	2	3	1	2	5	6			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:109380254T>C	uc001dwa.3	-	6	1723	c.1454A>G	c.(1453-1455)tAt>tGt	p.Y485C	AKNAD1_uc010ovb.2_Missense_Mutation_p.Y192C|AKNAD1_uc001dwb.3_Non-coding_Transcript	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	485										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						AGCTGAAGTATATTTGCTTTC	0.403													12	98					0	0	0.010729	0	0	C	109380254	T	C	109380254	3	2	122	1	0	0	0	0	1	0	0	0	464	1406	49	3	1096	3	AKNAD1	1	109380254	Missense_Mutation	SNP	T	TCGA-E1-5305-01A-01D-1893-08	85715218	109380254	139870367	3	5507											
NBPF10	100132406	broad.mit.edu	37	chr1	145299852	145299854	+	In_Frame_Del	DEL	GAG	GAG	-																															aattgcgcccccagctggcaGagaagaaacagcagttcaga																										TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:145299852_145299854delGAG	uc021oul.1	+	5	936_938	c.901_903delGAG	c.(901-903)gagdel	p.E301del	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_In_Frame_Del_p.E301del|NBPF10_uc010oyi.2_5'Flank|NBPF10_uc001emq.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	301										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CCAGCTGGCAGAGAAGAAACAGC	0.468													8	856	---	---	---	---						-	145299854	GAG	-	145299852	7	5	122	1	0	1	0	1	0	0	0	0	10193	943	33	0	923	0	NBPF10	1	145299852	In_Frame_Del	DEL	GAG	TCGA-E1-5305-01A-01D-1893-08	35919598	145299852	103950769	4	5508											
FLG	2312	broad.mit.edu	37	chr1	152280725	152280725	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgtcggcccaagaggaagCttcatgatgatgcgaccctg	9	8	13	11	2	1	3	1	2	0	1	2	5	1	4	2	2	2	2	2	2	2	1			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:152280725C>G	uc001ezu.1	-	2	6673	c.6637G>C	c.(6637-6639)Gct>Cct	p.A2213P		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2213	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAAGAGGAAGCTTCATGATGA	0.562									Ichthyosis				10	537					0	0	0.006214	0	0	G	152280725	C	G	152280725	3	3	122	1	0	0	0	0	1	0	0	0	5922	797	28	5	5552	5	FLG	1	152280725	Missense_Mutation	SNP	C	TCGA-E1-5305-01A-01D-1893-08	6980873	152280725	96969896	5	5509											
DCST2	127579	broad.mit.edu	37	chr1	155005617	155005617	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacttcggcggtctggttcAgggccagctctgccccacag	5	8	13	15	2	3	0	1	0	2	0	4	0	3	0	3	4	2	3	3	4	0	2			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:155005617A>C	uc001fgm.3	-	1	472	c.392T>G	c.(391-393)cTg>cGg	p.L131R	DCST2_uc009wpb.3_Non-coding_Transcript|DCST1_uc010per.2_5'Flank|DCST1_uc001fgn.2_5'Flank|DCST1_uc010pes.2_5'Flank	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA.	131						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGTCTGGTTCAGGGCCAGCTC	0.632													9	14					0	0	0.004482	0	0	C	155005617	A	C	155005617	3	2	122	1	0	0	0	0	1	0	0	0	4303	188	7	5	1985	5	DCST2	1	155005617	Missense_Mutation	SNP	A	TCGA-E1-5305-01A-01D-1893-08	2724892	155005617	94245004	6	5510											
OR10J3	441911	broad.mit.edu	37	chr1	159284385	159284385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagacaagtttgtgctgcCgcctgaagctggagaaacct	12	8	12	9	1	0	4	0	1	0	3	0	5	0	4	3	1	4	3	3	1	4	1			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:159284385C>T	uc010piu.2	-	0	65	c.65G>A	c.(64-66)cGg>cAg	p.R22Q		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R22Q(2)|p.R22L(2)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TTTGTGCTGCCGCCTGAAGCT	0.453													104	168					0	0	0.01441	0	0	T	159284385	C	T	159284385	3	4	122	1	0	0	0	0	1	0	0	0	10911	652	23	2	926	2	OR10J3	1	159284385	Missense_Mutation	SNP	C	TCGA-E1-5305-01A-01D-1893-08	4278768	159284385	89966236	7	5511											
FMOD	2331	broad.mit.edu	37	chr1	203316483	203316483	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgactggggggatcttctGcagctggttgtaggagaggt	6	12	18	5	0	2	2	0	1	2	1	2	4	2	3	0	6	2	5	0	6	1	4			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:203316483G>C	uc001gzr.3	-	1	1052	c.916C>G	c.(916-918)Cag>Gag	p.Q306E		NM_002023	NP_002014	Q06828	FMOD_HUMAN	Homo sapiens fibromodulin (FMOD), mRNA.	306					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GGGATCTTCTGCAGCTGGTTG	0.557													5	158					0	0	0.014758	0	0	C	203316483	G	C	203316483	3	2	122	1	0	0	0	0	1	0	0	0	5959	1328	46	5	222	5	FMOD	1	203316483	Missense_Mutation	SNP	G	TCGA-E1-5305-01A-01D-1893-08	44032098	203316483	45934138	8	5512											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								31	43					0	0	0.017118	0	0	T	209113112	C	T	209113112	3	4	122	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-5305-01A-01D-1893-08		209113112	34086261	9	5513											
SLC4A7	9497	broad.mit.edu	37	chr3	27444777	27444777	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatcgagtaatataacacAcaaggctgcttgcatctgtt	14	12	7	8	1	1	0	0	0	1	0	2	1	1	0	0	1	3	5	0	1	6	6			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr3:27444777A>G	uc011aww.2	-	14	2395	c.2174T>C	c.(2173-2175)gTg>gCg	p.V725A	SLC4A7_uc011awx.2_Missense_Mutation_p.V712A|SLC4A7_uc021wun.1_Missense_Mutation_p.V601A|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Missense_Mutation_p.V708A|SLC4A7_uc011awz.2_Non-coding_Transcript|SLC4A7_uc011axa.2_Missense_Mutation_p.V597A|SLC4A7_uc011axb.2_Missense_Mutation_p.V712A|SLC4A7_uc021wul.1_Non-coding_Transcript|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Non-coding_Transcript|SLC4A7_uc021wum.1_Non-coding_Transcript|SLC4A7_uc003cdu.4_Missense_Mutation_p.V597A|SLC4A7_uc010hfl.3_Missense_Mutation_p.V266A|SLC4A7_uc003cdv.3_Missense_Mutation_p.V716A|SLC4A7_uc003cdw.3_Missense_Mutation_p.V592A	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA.	716						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						AATATAACACACAAGGCTGCT	0.378													67	77					0	0	0.01441	0	0	G	27444777	A	G	27444777	3	3	122	1	0	0	0	0	1	0	0	0	14658	159	6	3	1541	3	SLC4A7	3	27444777	Missense_Mutation	SNP	A	TCGA-E1-5305-01A-01D-1893-08		27444777	170577653	10	5514											
KIF9	64147	broad.mit.edu	37	chr3	47284702	47284702	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagtccttcccattcacAgggctgctggcaccttcctt	6	12	7	16	0	1	0	1	0	0	0	5	0	5	0	5	2	1	3	5	2	1	4			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr3:47284702A>G	uc010hjp.3	-	16	2152	c.1548T>C	c.(1546-1548)ccT>ccC	p.P516P	KIF9_uc003cqx.3_Silent_p.P516P|KIF9_uc003cqy.3_Intron|KIF9_uc011bat.1_Intron|FLJ39534_uc003cqw.2_Non-coding_Transcript	NM_001134878	NP_878905	Q9HAQ2	KIF9_HUMAN	Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA.	516					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TCCCATTCACAGGGCTGCTGG	0.552													3	41					0	0	0.004672	0	0	G	47284702	A	G	47284702	2	3	122	1	0	0	0	0	0	0	0	1	8310	175	7	4		4	KIF9	3	47284702	Silent	SNP	A	TCGA-E1-5305-01A-01D-1893-08	19839925	47284702	150737728	11	5515											
DNAH1	25981	broad.mit.edu	37	chr3	52416412	52416412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcgagatgatgtgaagaagGtcctgctcaaggcgggccta	10	7	16	8	2	1	4	1	2	0	2	2	5	2	4	2	4	1	1	2	4	4	1			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr3:52416412G>A	uc011bef.2	+	49	8143	c.7882G>A	c.(7882-7884)Gtc>Atc	p.V2628I	DNAH1_uc003ddv.3_5'Flank	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2628	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGTGAAGAAGGTCCTGCTCAA	0.582													86	124					0	0	0.01441	0	0	A	52416412	G	A	52416412	3	1	122	1	0	0	0	0	1	0	0	0	4597	1261	44	3	8076	3	DNAH1	3	52416412	Missense_Mutation	SNP	G	TCGA-E1-5305-01A-01D-1893-08	5131710	52416412	145606018	12	5516											
KBTBD8	84541	broad.mit.edu	37	chr3	67054104	67054104	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttccagaaatttttgctaAatgcatacgttttcctctga	10	16	5	10	1	1	2	0	1	1	1	3	2	3	2	3	0	3	3	3	0	4	7			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr3:67054104A>G	uc003dmy.3	+	2	766	c.713A>G	c.(712-714)aAa>aGa	p.K238R	KBTBD8_uc011bfv.2_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.	238	BACK.									breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		ATTTTTGCTAAATGCATACGT	0.388													23	47					0	0	0.014323	0	0	G	67054104	A	G	67054104	3	3	122	1	0	0	0	0	1	0	0	0	7999	14	1	3	723	3	KBTBD8	3	67054104	Missense_Mutation	SNP	A	TCGA-E1-5305-01A-01D-1893-08	14637692	67054104	130968326	13	5517											
ADCY2	108	broad.mit.edu	37	chr5	7520914	7520914	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccttcaacatgcgagacGccatcattgccagcgtcctc	8	9	8	16	3	2	1	2	0	0	1	4	2	3	1	4	0	5	0	4	0	1	2			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr5:7520914G>A	uc003jdz.1	+	2	539	c.472G>A	c.(472-474)Gcc>Acc	p.A158T		NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	158					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.A158T(2)|p.D157D(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CATGCGAGACGCCATCATTGC	0.547													50	58					0	0	0.01441	0	0	A	7520914	G	A	7520914	3	1	122	1	0	0	0	0	1	0	0	0	294	1087	38	1	482	1	ADCY2	5	7520914	Missense_Mutation	SNP	G	TCGA-E1-5305-01A-01D-1893-08		7520914	173394346	14	5518											
DNAH5	1767	broad.mit.edu	37	chr5	13751313	13751313	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgggttaggcaatttggtGgtaatgtagagtctaaagcc	10	12	14	5	0	1	1	0	0	1	1	1	1	1	1	1	4	1	5	1	4	6	5			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr5:13751313G>T	uc003jfd.2	-	64	11127	c.11085C>A	c.(11083-11085)acC>acA	p.T3695T	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3695	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCAATTTGGTGGTAATGTAGA	0.383									Kartagener syndrome				5	88					0.00198382	0.00238058	0.02938	1	0	T	13751313	G	T	13751313	2	4	122	1	0	0	0	0	0	0	0	1	4604	1335	47	5		5	DNAH5	5	13751313	Silent	SNP	G	TCGA-E1-5305-01A-01D-1893-08	6230399	13751313	167163947	15	5519											
HEATR7B2	133558	broad.mit.edu	37	chr5	41012689	41012689	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctatcagttcacctgaTcttccagagcagctccctgc	7	11	8	15	0	3	2	2	1	1	1	5	2	5	2	3	1	3	4	3	1	1	3			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr5:41012689T>C	uc003jmj.4	-	29	3621	c.3131A>G	c.(3130-3132)gAt>gGt	p.D1044G	HEATR7B2_uc003jmi.4_Missense_Mutation_p.D599G	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1044							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						GTTCACCTGATCTTCCAGAGC	0.488													30	44					0	0	0.041601	0	0	C	41012689	T	C	41012689	3	2	122	1	0	0	0	0	1	0	0	0	7035	1435	50	3	1678	3	HEATR7B2	5	41012689	Missense_Mutation	SNP	T	TCGA-E1-5305-01A-01D-1893-08	27261376	41012689	139902571	16	5520											
TNRC18	84629	broad.mit.edu	37	chr7	5428811	5428812	+	Frame_Shift_Ins	INS	-	-	C																															gccgaaaagcggaggcggctINSccccgccgcggcccgcccgc																										TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr7:5428811_5428812insC	uc003soi.4	-	4	992_993	c.643_644insG	c.(643-645)gagfs	p.E215fs	TNRC18_uc010ksx.1_Frame_Shift_Ins_p.E141fs	NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	215							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CGGAGGCGGCTCCCCGCCGCGG	0.797													2	4	---	---	---	---						C	5428812	-	C	5428811	7	5	122	1	0	1	1	0	0	0	0	0	16336	1551	54	0	8366	0	TNRC18	7	5428811	Frame_Shift_Ins	INS	-	TCGA-E1-5305-01A-01D-1893-08		5428811	153709852	17	5521											
KCNB2	9312	broad.mit.edu	37	chr8	73849587	73849587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgctgccagggatggcaCgctggagtatgccccagttg	7	8	14	12	1	0	0	0	0	0	0	0	2	0	2	4	3	3	5	4	3	1	2			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr8:73849587C>T	uc003xzb.3	+	2	2585	c.1997C>T	c.(1996-1998)aCg>aTg	p.T666M		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	666					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AGGGATGGCACGCTGGAGTAT	0.562													34	45					0	0	0.012213	0	0	T	73849587	C	T	73849587	3	4	122	1	0	0	0	0	1	0	0	0	8013	536	19	1	2003	1	KCNB2	8	73849587	Missense_Mutation	SNP	C	TCGA-E1-5305-01A-01D-1893-08		73849587	72514435	18	5522											
ALDH1B1	219	broad.mit.edu	37	chr9	38396046	38396046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccggatggatgcctctgagCggggccggctgctgaaccgc	5	6	17	13	4	1	2	0	2	1	0	1	4	1	4	4	5	4	2	4	5	1	0			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr9:38396046C>T	uc022bgy.1	+	0	301	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	ALDH1B1_uc004aay.3_Missense_Mutation_p.R101W	NM_000692	NP_000683	P30837	AL1B1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA.	101					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	TGCCTCTGAGCGGGGCCGGCT	0.647													47	86					0	0	0.01441	0	0	T	38396046	C	T	38396046	3	4	122	1	0	0	0	0	1	0	0	0	493	759	27	1	303	1	ALDH1B1	9	38396046	Missense_Mutation	SNP	C	TCGA-E1-5305-01A-01D-1893-08		38396046	102817385	19	5523											
ITIH2	3698	broad.mit.edu	37	chr10	7786812	7786812	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccctggataaagagatgTccttttctgttttacttcat	9	17	6	9	0	3	1	2	0	1	1	4	3	4	2	2	1	1	1	2	1	3	6			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr10:7786812T>C	uc001ijs.3	+	18	2629	c.2467T>C	c.(2467-2469)Tcc>Ccc	p.S823P		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	823					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TAAAGAGATGTCCTTTTCTGT	0.418													23	48					0	0	0.012319	0	0	C	7786812	T	C	7786812	3	2	122	1	0	0	0	0	1	0	0	0	7904	1667	58	3	2541	3	ITIH2	10	7786812	Missense_Mutation	SNP	T	TCGA-E1-5305-01A-01D-1893-08		7786812	127747935	20	5524											
VCL	7414	broad.mit.edu	37	chr10	75834513	75834513	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttacagctatgaagatttTtgtaacaactaaaaactcaa	17	14	4	6	0	1	2	1	1	0	1	1	2	1	2	0	0	5	2	0	0	9	7			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr10:75834513T>G	uc001jwd.3	+	5	729	c.635T>G	c.(634-636)tTt>tGt	p.F212C	VCL_uc009xrr.3_5'UTR|VCL_uc010qky.1_Missense_Mutation_p.F119C|VCL_uc001jwe.3_Missense_Mutation_p.F212C|VCL_uc010qkz.2_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	Homo sapiens vinculin (VCL), transcript variant 1, mRNA.	212	N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					ATGAAGATTTTTGTAACAACT	0.269													7	142					0	0	0.008291	0	0	G	75834513	T	G	75834513	3	3	122	1	0	0	0	0	1	0	0	0	17136	1841	64	5	657	5	VCL	10	75834513	Missense_Mutation	SNP	T	TCGA-E1-5305-01A-01D-1893-08	68047701	75834513	59700234	21	5525											
CTSC	1075	broad.mit.edu	37	chr11	88042410	88042410	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcatattccatgtatgtagTtgcagtccaagacttctgaa	11	14	7	9	0	2	2	1	1	1	1	4	2	4	2	2	0	1	4	2	0	5	6			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr11:88042410T>C	uc001pck.4	-	3	663	c.562A>G	c.(562-564)Act>Gct	p.T188A	CTSC_uc001pcl.4_Missense_Mutation_p.T40A	NM_001814	NP_001805	P53634	CATC_HUMAN	Homo sapiens cathepsin C (CTSC), transcript variant 1, mRNA.	188					immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATGTATGTAGTTGCAGTCCAA	0.388													33	47					0	0	0.017118	0	0	C	88042410	T	C	88042410	3	2	122	1	0	0	0	0	1	0	0	0	4031	1725	60	3	845	3	CTSC	11	88042410	Missense_Mutation	SNP	T	TCGA-E1-5305-01A-01D-1893-08		88042410	46964106	22	5526											
WNK1	65125	broad.mit.edu	37	chr12	999632	999632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacagcctgtgtccatggCggctccaacagcaatcacag	10	9	9	13	1	1	0	1	0	0	0	3	0	3	0	3	2	4	2	3	2	3	2			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr12:999632C>T	uc021qss.1	+	21	6885	c.6242C>T	c.(6241-6243)gCg>gTg	p.A2081V	WNK1_uc001qio.4_Missense_Mutation_p.A1821V|WNK1_uc021qst.1_Missense_Mutation_p.A2073V|WNK1_uc001qip.4_Missense_Mutation_p.A1574V|WNK1_uc001qir.4_Missense_Mutation_p.A994V	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	1821					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GTGTCCATGGCGGCTCCAACA	0.463													4	79					0	0	0.021553	0	0	T	999632	C	T	999632	3	4	122	1	0	0	0	0	1	0	0	0	17374	768	27	1	7050	1	WNK1	12	999632	Missense_Mutation	SNP	C	TCGA-E1-5305-01A-01D-1893-08		999632	132852263	23	5527											
CACNA2D4	93589	broad.mit.edu	37	chr12	1992145	1992145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcctgggtgtccgccagcGttgagatctgcgtgtagtag	5	12	14	10	3	2	1	0	1	2	1	4	2	3	1	3	1	2	3	3	1	2	3			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr12:1992145G>A	uc021qsx.1	-	12	1604	c.1373C>T	c.(1372-1374)aCg>aTg	p.T458M	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Missense_Mutation_p.T346M	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	458	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.T458M(1)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GTCCGCCAGCGTTGAGATCTG	0.642													11	20					0	0	0.013537	0	0	A	1992145	G	A	1992145	3	1	122	1	0	0	0	0	1	0	0	0	2551	1145	40	1	2144	1	CACNA2D4	12	1992145	Missense_Mutation	SNP	G	TCGA-E1-5305-01A-01D-1893-08	992513	1992145	131859750	24	5528											
LPAR5	57121	broad.mit.edu	37	chr12	6729924	6729924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaggtcccggtagcggcaaCgcgagggcctgtgcacgcgg	6	4	18	13	7	0	0	0	0	0	0	1	2	1	0	2	5	3	3	2	5	2	1			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr12:6729924C>T	uc009zer.2	-	1	772	c.491G>A	c.(490-492)cGt>cAt	p.R164H	LPAR5_uc001qps.2_Missense_Mutation_p.R164H|LPAR5_uc010sff.1_Missense_Mutation_p.R164H|LPAR5_uc021qub.1_Missense_Mutation_p.R164H	NM_001142961	NP_065133	Q9H1C0	LPAR5_HUMAN	Homo sapiens lysophosphatidic acid receptor 5 (LPAR5), transcript variant 2, mRNA.	164						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						GTAGCGGCAACGCGAGGGCCT	0.726													4	9					0	0	0.014758	0	0	T	6729924	C	T	6729924	3	4	122	1	0	0	0	0	1	0	0	0	8908	536	19	1	631	1	LPAR5	12	6729924	Missense_Mutation	SNP	C	TCGA-E1-5305-01A-01D-1893-08	4737779	6729924	127121971	25	5529											
BICD1	636	broad.mit.edu	37	chr12	32480873	32480873	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagatgaccagcatagccaAcgaaaatcacagtaccctta	18	6	6	11	1	1	2	1	1	0	1	1	3	1	2	3	0	4	2	3	0	7	3	rs116296656	by1000genomes	TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr12:32480873A>G	uc001rku.3	+	4	1565	c.1484A>G	c.(1483-1485)aAc>aGc	p.N495S	BICD1_uc001rkv.3_Missense_Mutation_p.N495S|BICD1_uc010skd.2_Non-coding_Transcript	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	Homo sapiens bicaudal D homolog 1 (Drosophila) (BICD1), transcript variant 1, mRNA.	495					RNA processing|anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	Rab GTPase binding|cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AGCATAGCCAACGAAAATCAC	0.458													29	57					0	0	0.027356	0	0	G	32480873	A	G	32480873	3	3	122	1	0	0	0	0	1	0	0	0	1428	43	2	3	1502	3	BICD1	12	32480873	Missense_Mutation	SNP	A	TCGA-E1-5305-01A-01D-1893-08	25750949	32480873	101371022	26	5530											
CENPJ	55835	broad.mit.edu	37	chr13	25486836	25486836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccaggagcactgtgacatgCcgctacctgtggtccctttt	6	12	10	13	1	0	1	0	1	0	0	2	2	2	2	4	2	3	2	4	2	1	3			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr13:25486836C>T	uc001upt.4	-	1	581	c.328G>A	c.(328-330)Gca>Aca	p.A110T	CENPJ_uc010tdf.2_Non-coding_Transcript|CENPJ_uc010aaf.3_Non-coding_Transcript	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	Homo sapiens centromere protein J (CENPJ), mRNA.	110					G2/M transition of mitotic cell cycle|cell division|centriole replication|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CTGTGACATGCCGCTACCTGT	0.433													4	133					0	0	0.009096	0	0	T	25486836	C	T	25486836	3	4	122	1	0	0	0	0	1	0	0	0	3234	739	26	3	3752	3	CENPJ	13	25486836	Missense_Mutation	SNP	C	TCGA-E1-5305-01A-01D-1893-08		25486836	89683042	27	5531											
COG3	83548	broad.mit.edu	37	chr13	46092961	46092961	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaggctgaatagcaacaaTgccttgatagagttcttgtt	11	15	9	6	0	1	3	0	2	1	1	1	3	1	3	1	1	3	4	1	1	6	8			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr13:46092961T>C	uc001vak.3	+	17	2137	c.1995T>C	c.(1993-1995)aaT>aaC	p.N665N	COG3_uc010tfv.2_Silent_p.N502N|COG3_uc010aci.3_Silent_p.N441N	NM_031431	NP_113619	Q96JB2	COG3_HUMAN	Homo sapiens component of oligomeric golgi complex 3 (COG3), mRNA.	665					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi cisterna membrane|Golgi transport complex|cis-Golgi network	protein binding|protein transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		ATAGCAACAATGCCTTGATAG	0.393													27	76					0	0	0.034045	0	0	C	46092961	T	C	46092961	2	2	122	1	0	0	0	0	0	0	0	1	3659	1461	51	3		3	COG3	13	46092961	Silent	SNP	T	TCGA-E1-5305-01A-01D-1893-08	20606125	46092961	69076917	28	5532											
HNRNPC	3183	broad.mit.edu	37	chr14	21679388	21679414	+	In_Frame_Del	DEL	GTCATCCTCGCCATTGGCGCTGTCTCT	GTCATCCTCGCCATTGGCGCTGTCTCT	-																															accccactatgtgcttaagaGtcatcctcgccattggcgct																										TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr14:21679388_21679414delGTCATCCTCGCCATTGGCGCTGTCTCT	uc001vzy.3	-	8	1133_1159	c.889_915delAGAGACAGCGCCAATGGCGAGGATGAC	c.(889-915)agagacagcgccaatggcgaggatgacdel	p.RDSANGEDD297del	HNRNPC_uc001vzw.3_In_Frame_Del_p.RDSANGEDD284del|HNRNPC_uc001wad.3_In_Frame_Del_p.RDSANGEDD217del|HNRNPC_uc001vzx.3_Non-coding_Transcript|HNRNPC_uc001vzz.3_In_Frame_Del_p.RDSANGEDD284del|HNRNPC_uc001waa.3_In_Frame_Del_p.RDSANGEDD297del|HNRNPC_uc010ail.3_In_Frame_Del_p.RDSANGEDD297del|HNRNPC_uc010tlq.2_Non-coding_Transcript|HNRNPC_uc001wac.3_In_Frame_Del_p.RDSANGEDD241del|HNRNPC_uc010tlr.2_3'UTR|HNRNPC_uc001wae.3_3'UTR	NM_031314	NP_112604	P07910	HNRPC_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C (C1/C2) (HNRNPC), transcript variant 1, mRNA.	297	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|nucleoplasm	RNA binding|identical protein binding|nucleotide binding			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		GTGCTTAAGAGTCATCCTCGCCATTGGCGCTGTCTCTGTCATCCTCT	0.445													63	187	---	---	---	---						-	21679414	GTCATCCTCGCCATTGGCGCTGTCTCT	-	21679388	7	5	122	1	0	1	0	1	0	0	0	0	7262	1020	36	0	9	0	HNRNPC	14	21679388	In_Frame_Del	DEL	GTCATCCTCGCCATTGGCGCTGTCTCT	TCGA-E1-5305-01A-01D-1893-08		21679388	85670152	29	5533											
DMXL2	23312	broad.mit.edu	37	chr15	51791722	51791724	+	In_Frame_Del	DEL	AAG	AAG	-																															gataccaagtctatagatctAagaagaacccatcttgactt																										TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr15:51791722_51791724delAAG	uc010ufy.2	-	17	3922_3924	c.3697_3699delCTT	c.(3697-3699)cttdel	p.L1233del	DMXL2_uc002abf.3_In_Frame_Del_p.L1233del|DMXL2_uc010bfa.3_Intron	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1233						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CTATAGATCTAAGAAGAACCCAT	0.424													8	115	---	---	---	---						-	51791724	AAG	-	51791722	7	5	122	1	0	1	0	1	0	0	0	0	4595	349	13	0	5518	0	DMXL2	15	51791722	In_Frame_Del	DEL	AAG	TCGA-E1-5305-01A-01D-1893-08		51791722	50739670	30	5534											
FXR2	9513	broad.mit.edu	37	chr17	7496341	7496341	+	Frame_Shift_Del	DEL	G	G	-																															attgtatctcgaagtgggccGgggggcaggtgggggtcccc																										TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr17:7496341delG	uc002gia.2	-	12	1854	c.1489delC	c.(1489-1491)cggfs	p.R497fs	SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank	NM_004860	NP_004851	P51116	FXR2_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 2 (FXR2), mRNA.	497						cytosolic large ribosomal subunit	RNA binding|protein binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		GAAGTGGGCCGGGGGGCAGGT	0.617													14	81	---	---	---	---						-	7496341	G	-	7496341	7	5	122	1	0	1	0	1	0	0	0	0	6116	1115	39	0	452	0	FXR2	17	7496341	Frame_Shift_Del	DEL	G	TCGA-E1-5305-01A-01D-1893-08		7496341	73698869	31	5535											
TP53	7157	broad.mit.edu	37	chr17	7577129	7577129	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcacaaacacgcacctcaAagctgttccgtcccagtaga	13	6	8	14	2	1	1	1	0	0	1	3	1	3	1	3	1	2	5	3	1	3	2			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr17:7577129A>G	uc002gim.2	-	7	1003	c.809T>C	c.(808-810)tTt>tCt	p.F270S	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.F270S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.F138S|TP53_uc010cnf.1_Missense_Mutation_p.F138S|TP53_uc002gii.1_Missense_Mutation_p.F138S|TP53_uc010cni.1_Missense_Mutation_p.F270S|TP53_uc010cnh.1_Missense_Mutation_p.F270S|TP53_uc002gij.2_Missense_Mutation_p.F270S|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.	270	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.F270C(31)|p.F270L(23)|p.F270S(16)|p.F270Y(10)|p.0?(8)|p.F270V(7)|p.G262_F270delGNLLGRNSF(4)|p.F270I(4)|p.G266_E271delGRNSFE(4)|p.S269N(4)|p.S269C(4)|p.S269S(3)|p.S269G(3)|p.F270fs*72(2)|p.S269fs*21(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.G262_S269delGNLLGRNS(2)|p.S269_F270>I(2)|p.S269T(2)|p.S269fs*34(2)|p.S269fs*75(1)|p.S269fs*76(1)|p.E258fs*71(1)|p.S269>XXXXX(1)|p.S269_F270insX(1)|p.S269fs*3(1)|p.S269R(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)		ACGCACCTCAAAGCTGTTCCG	0.537		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)			19	6					0	0	0.043863	0	0	G	7577129	A	G	7577129	3	3	122	1	0	0	0	0	1	0	0	0	16378	14	1	3	477	3	TP53	17	7577129	Missense_Mutation	SNP	A	TCGA-E1-5305-01A-01D-1893-08	80788	7577129	73618081	32	5536											
MYOCD	93649	broad.mit.edu	37	chr17	12666629	12666629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtcacccttctaaaaattGggagcgaagagcctcacttt	12	11	8	10	1	3	1	2	0	1	1	3	3	3	2	2	1	2	0	2	1	4	4			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr17:12666629G>A	uc002gno.2	+	13	2928	c.2629G>A	c.(2629-2631)Ggg>Agg	p.G877R	MYOCD_uc002gnn.2_Missense_Mutation_p.G829R|MYOCD_uc002gnq.2_Missense_Mutation_p.G553R	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	829					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TCTAAAAATTGGGAGCGAAGA	0.483													13	107					0	0	0.016723	0	0	A	12666629	G	A	12666629	3	1	122	1	0	0	0	0	1	0	0	0	10087	1348	47	3	2695	3	MYOCD	17	12666629	Missense_Mutation	SNP	G	TCGA-E1-5305-01A-01D-1893-08	5089500	12666629	68528581	33	5537											
ENGASE	64772	broad.mit.edu	37	chr17	77079175	77079177	+	In_Frame_Del	DEL	AGA	AGA	-																															ctgggtgtatgagtgtctggAgaagaaggatttcttccaga																										TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr17:77079175_77079177delAGA	uc002jwv.3	+	7	1120_1122	c.1112_1114delAGA	c.(1111-1116)gagaag>gag	p.K373del	ENGASE_uc002jww.3_In_Frame_Del_p.K79del	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	373	BRCT.					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GAGTGTCTGGAGAAGAAGGATTT	0.562											OREG0024792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	145	---	---	---	---						-	77079177	AGA	-	77079175	7	5	122	1	0	1	0	1	0	0	0	0	5118	304	11	0	1142	0	ENGASE	17	77079175	In_Frame_Del	DEL	AGA	TCGA-E1-5305-01A-01D-1893-08	64412546	77079175	4116035	34	5538											
CDC34	997	broad.mit.edu	37	chr19	537058	537060	+	In_Frame_Del	DEL	CTT	CTT	-																															ctcctgaacgagcccaacacCttctcgcccgcaaacgtgga																										TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr19:537058_537060delCTT	uc002lov.3	+	3	607_609	c.408_410delCTT	c.(406-411)accttc>acc	p.F137del		NM_004359	NP_004350	P49427	UB2R1_HUMAN	Homo sapiens cell division cycle 34 homolog (S. cerevisiae) (CDC34), mRNA.	137					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		AGCCCAACACCTTCTCGCCCGCA	0.635													42	72	---	---	---	---						-	537060	CTT	-	537058	7	5	122	1	0	1	0	1	0	0	0	0	3067	668	24	0	422	0	CDC34	19	537058	In_Frame_Del	DEL	CTT	TCGA-E1-5305-01A-01D-1893-08		537058	58591925	35	5539											
LBP	3929	broad.mit.edu	37	chr20	36983811	36983811	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaagtactggagagcagggTaagaaggtccaagcctctgg	13	6	15	7	0	1	2	0	0	1	2	2	4	2	2	2	4	3	3	2	4	5	2			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr20:36983811T>A	uc002xic.1	+	5	623	c.588_splice	c.e5+2	p.R196_splice		NM_004139	NP_004130	P18428	LBP_HUMAN	Homo sapiens lipopolysaccharide binding protein (LBP), mRNA.	196					Toll signaling pathway|acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GAGAGCAGGGTAAGAAGGTCC	0.572													8	35					0	0	0.038147	0	0	A	36983811	T	A	36983811	5	1	122	1	0	0	0	0	0	0	1	0	8651	1652	57	5	608	5	LBP	20	36983811	Splice_Site	SNP	T	TCGA-E1-5305-01A-01D-1893-08		36983811	26041709	36	5540											
IFNGR2	3460	broad.mit.edu	37	chr21	34799292	34799292	+	Frame_Shift_Del	DEL	T	T	-																															tcgctgatacctccacggccTttttttgttattatgtccat																										TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr21:34799292delT	uc002yrp.4	+	3	1162	c.514delT	c.(514-516)tttfs	p.F172fs		NM_005534	NP_005525	P38484	INGR2_HUMAN	Homo sapiens interferon gamma receptor 2 (interferon gamma transducer 1) (IFNGR2), mRNA.	172	Fibronectin type-III 2.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458													8	554	---	---	---	---						-	34799292	T	-	34799292	7	5	122	1	0	1	0	1	0	0	0	0	7550	1609	56	0	528	0	IFNGR2	21	34799292	Frame_Shift_Del	DEL	T	TCGA-E1-5305-01A-01D-1893-08		34799292	13330603	37	5541											
ATRX	546	broad.mit.edu	37	chrX	76778848	76778849	+	Frame_Shift_Ins	INS	-	-	GTATC																															tcctacaatgtgttctttatINSgtatctgaaggagctctgca																										TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chrX:76778848_76778849insGTATC	uc004ecp.4	-	30	6962_6963	c.6730_6731insGATAC	c.(6730-6732)catfs	p.H2244fs	ATRX_uc004ecq.4_Frame_Shift_Ins_p.H2206fs|ATRX_uc004eco.4_Frame_Shift_Ins_p.H2029fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2244					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GTGTTCTTTATGTATCTGAAGG	0.386			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						48	49	---	---	---	---						GTATC	76778849	-	GTATC	76778848	7	5	122	1	0	1	1	0	0	0	0	0	1208	1464	51	0	767	0	ATRX	23	76778848	Frame_Shift_Ins	INS	-	TCGA-E1-5305-01A-01D-1893-08		76778848	78491712	38	5542											
VPS13D	55187	broad.mit.edu	37	chr1	12378242	12378242	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacactcccagtgatattaAgaaacaaaatcatgttactc	16	10	4	11	0	1	2	1	1	0	1	3	2	2	2	2	0	2	1	2	0	6	3			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:12378242A>G	uc001atv.3	+	30	7403	c.7262A>G	c.(7261-7263)aAg>aGg	p.K2421R	VPS13D_uc001atw.3_Missense_Mutation_p.K2421R|VPS13D_uc001atx.3_Missense_Mutation_p.K1609R|VPS13D_uc001aty.1_Missense_Mutation_p.K159R	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2421					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGTGATATTAAGAAACAAAAT	0.428													4	173					0	0	0.150653	0	0	G	12378242	A	G	12378242	3	3	123	1	0	0	0	0	1	0	0	0	17189	72	3	4	7380	4	VPS13D	1	12378242	Missense_Mutation	SNP	A	TCGA-E1-5307-01A-01D-1893-08		12378242	236872379	1	5543											
KIF17	57576	broad.mit.edu	37	chr1	20992723	20992723	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgaggctcttcctggcGtctgtgctgaggatctggct	4	13	13	11	1	4	2	1	2	3	0	5	3	5	3	1	4	1	3	1	4	0	1			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:20992723G>A	uc001bdr.4	-	13	3013	c.2895C>T	c.(2893-2895)gaC>gaT	p.D965D	KIF17_uc001bdp.4_Silent_p.D242D|KIF17_uc009vpx.3_Silent_p.D335D|KIF17_uc001bds.4_Silent_p.D964D	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	965					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TCTTCCTGGCGTCTGTGCTGA	0.577													4	104					0	0	0.184627	0	0	A	20992723	G	A	20992723	2	1	123	1	0	0	0	0	0	0	0	1	8279	1136	40	1		1	KIF17	1	20992723	Silent	SNP	G	TCGA-E1-5307-01A-01D-1893-08	8614481	20992723	228257898	2	5544											
AIM1L	55057	broad.mit.edu	37	chr1	26672578	26672578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcacagagctgctcatccGccggtccacatgacctccca	9	7	8	17	2	2	2	2	1	0	1	5	2	5	2	5	1	2	2	5	1	0	0			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:26672578G>A	uc001bmd.4	-	1	721	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	0	Beta/gamma crystallin 'Greek key' 4.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CTGCTCATCCGCCGGTCCACA	0.657													5	18					0	0	0.217242	0	0	A	26672578	G	A	26672578	3	1	123	1	0	0	0	0	1	0	0	0	431	1102	38	1		1	AIM1L	1	26672578	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	5679855	26672578	222578043	3	5545											
LRIG2	9860	broad.mit.edu	37	chr1	113637236	113637236	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactatttttgttaaagggAacttaaaagaaacagaatta	20	12	6	3	0	0	2	0	0	0	2	0	3	0	3	0	1	3	1	0	1	10	6			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:113637236A>G	uc001edf.1	+	5	860	c.662A>G	c.(661-663)gAa>gGa	p.E221G	LRIG2_uc009wgn.1_Missense_Mutation_p.E118G	NM_014813	NP_055628	O94898	LRIG2_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 2 (LRIG2), mRNA.	221						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGTTAAAGGGAACTTAAAAGA	0.303													21	71					0	0	0.624587	0	0	G	113637236	A	G	113637236	3	3	123	1	0	0	0	0	1	0	0	0	8945	246	9	3	684	3	LRIG2	1	113637236	Missense_Mutation	SNP	A	TCGA-E1-5307-01A-01D-1893-08	86964658	113637236	135613385	4	5546											
PTGFRN	5738	broad.mit.edu	37	chr1	117504195	117504195	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacagaggcaattattactGtgttgtgtctgcctggacca	10	12	11	8	0	1	2	0	0	1	2	1	3	1	3	2	2	2	2	2	2	3	3			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:117504195G>C	uc001egv.1	+	4	1681	c.1544G>C	c.(1543-1545)tGt>tCt	p.C515S		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	Homo sapiens prostaglandin F2 receptor negative regulator (PTGFRN), mRNA.	515	Ig-like C2-type 4.					Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		AATTATTACTGTGTTGTGTCT	0.453													32	62					0	0	0.760397	0	0	C	117504195	G	C	117504195	3	2	123	1	0	0	0	0	1	0	0	0	12750	1377	48	5	1562	5	PTGFRN	1	117504195	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	3866959	117504195	131746426	5	5547											
WARS2	10352	broad.mit.edu	37	chr1	119683216	119683216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcggatcccttatgaagtgCccggatgaagctccagcgct	8	9	12	12	3	0	2	0	2	0	0	2	4	2	4	3	2	4	2	3	2	3	1			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:119683216C>T	uc001ehn.3	-	0	80	c.52G>A	c.(52-54)Gca>Aca	p.A18T	WARS2_uc010oxf.2_5'Flank|WARS2_uc001ehm.3_Missense_Mutation_p.A18T|WARS2_uc010oxg.2_Missense_Mutation_p.A18T|WARS2_uc010oxh.2_Missense_Mutation_p.A18T|WARS2_uc010oxi.2_5'Flank|BC043601_uc001ehp.1_Non-coding_Transcript|BC043601_uc001eho.1_Non-coding_Transcript|BC043601_uc009whk.2_Non-coding_Transcript	NM_015836	NP_056651	Q9UGM6	SYWM_HUMAN	Homo sapiens tryptophanyl tRNA synthetase 2, mitochondrial (WARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	18					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	TTATGAAGTGCCCGGATGAAG	0.597													19	37					0	0	0.592651	0	0	T	119683216	C	T	119683216	3	4	123	1	0	0	0	0	1	0	0	0	17247	739	26	3	1083	3	WARS2	1	119683216	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	2179021	119683216	129567405	6	5548											
LRRN2	10446	broad.mit.edu	37	chr1	204587235	204587235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggatggcaatgagcccaGgacggtcccctaaggctctg	9	6	13	13	1	1	1	0	1	1	0	2	3	2	3	4	5	1	2	4	5	2	1			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:204587235G>A	uc021phy.1	-	0	1886	c.1886C>T	c.(1885-1887)cCt>cTt	p.P629L	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.P629L|LRRN2_uc001hbf.1_Missense_Mutation_p.P629L|LRRN2_uc009xbf.1_Missense_Mutation_p.P629L|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	629					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			AATGAGCCCAGGACGGTCCCC	0.627													6	33					0	0	0.217242	0	0	A	204587235	G	A	204587235	3	1	123	1	0	0	0	0	1	0	0	0	9035	1000	35	3	259	3	LRRN2	1	204587235	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	84904019	204587235	44663386	7	5549											
PM20D1	148811	broad.mit.edu	37	chr1	205819185	205819185	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccagggccagcacgcaaaCgcaccgctgagccatgcttc	10	4	10	17	3	0	1	0	1	0	0	1	1	0	1	4	1	4	5	4	1	1	1			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:205819185C>A	uc001hdj.3	-	0	92	c.16G>T	c.(16-18)Gtt>Ttt	p.V6F	PM20D1_uc009xbr.3_Non-coding_Transcript	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	Homo sapiens peptidase M20 domain containing 1 (PM20D1), mRNA.	6						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGCACGCAAACGCACCGCTGA	0.602													11	41					0.00136819	0.00139241	0.411799	1	0	A	205819185	C	A	205819185	3	1	123	1	0	0	0	0	1	0	0	0	12128	536	19	5	1544	5	PM20D1	1	205819185	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	1231950	205819185	43431436	8	5550											
OR13G1	441933	broad.mit.edu	37	chr1	247835572	247835572	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtatagctggaagcagggcGgatataggtgtagattacag	12	10	15	4	1	0	1	0	0	0	1	0	3	0	3	0	4	3	4	0	4	7	6	rs117404602	by1000genomes	TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:247835572G>T	uc001idi.1	-	0	772	c.772C>A	c.(772-774)Cgc>Agc	p.R258S		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GAAGCAGGGCGGATATAGGTG	0.463													43	49					4.44401e-20	4.68864e-20	0.853193	1	0	T	247835572	G	T	247835572	3	4	123	1	0	0	0	0	1	0	0	0	10942	1116	39	5	155	5	OR13G1	1	247835572	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	42016387	247835572	1415049	9	5551											
TMEM131	23505	broad.mit.edu	37	chr2	98388789	98388789	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatctgttgggatttctttCttaatatttaagagtttttt	9	22	6	4	0	3	1	0	0	3	1	3	2	3	2	0	1	0	2	0	1	3	10			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:98388789C>T	uc002syh.4	-	32	4648	c.4419G>A	c.(4417-4419)aaG>aaA	p.K1473K		NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	1473	Lys-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GGATTTCTTTCTTAATATTTA	0.363													5	146					0	0	0.184627	0	0	T	98388789	C	T	98388789	2	4	123	1	0	0	0	0	0	0	0	1	16041	912	32	3		3	TMEM131	2	98388789	Silent	SNP	C	TCGA-E1-5307-01A-01D-1893-08		98388789	144810584	10	5552											
CNGA3	1261	broad.mit.edu	37	chr2	99006190	99006190	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtactaccgctggctgacCgccatcgccctgcctgtctt	4	11	9	17	3	1	1	0	1	1	0	2	1	1	1	5	1	3	3	5	1	2	3			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:99006190C>T	uc010fij.3	+	5	672	c.531C>T	c.(529-531)acC>acT	p.T177T	CNGA3_uc002syt.3_Silent_p.T173T|CNGA3_uc002syu.3_Silent_p.T155T			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	173					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GCTGGCTGACCGCCATCGCCC	0.557													15	116					0	0	0.500413	0	0	T	99006190	C	T	99006190	2	4	123	1	0	0	0	0	0	0	0	1	3598	639	23	2		2	CNGA3	2	99006190	Silent	SNP	C	TCGA-E1-5307-01A-01D-1893-08	617401	99006190	144193183	11	5553											
IL1B	3553	broad.mit.edu	37	chr2	113591147	113591147	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaggtccaggtcctggaaGgagcactgcggagagagcga	11	4	17	9	2	0	2	0	0	0	2	2	7	2	5	2	5	3	1	2	5	1	0			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:113591147G>A	uc002tii.1	-	3	192	c.105C>T	c.(103-105)tcC>tcT	p.S35S	IL1B_uc002tih.1_Silent_p.S4S	NM_000576	NP_000567	P01584	IL1B_HUMAN	Homo sapiens interleukin 1, beta (IL1B), mRNA.	35					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of MAP kinase activity|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell proliferation|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	GGTCCTGGAAGGAGCACTGCG	0.597													24	79					0	0	0.639603	0	0	A	113591147	G	A	113591147	2	1	123	1	0	0	0	0	0	0	0	1	7651	987	35	3		3	IL1B	2	113591147	Silent	SNP	G	TCGA-E1-5307-01A-01D-1893-08	14584957	113591147	129608226	12	5554											
DPP10	57628	broad.mit.edu	37	chr2	116538514	116538514	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttcatgaaagaacaatgtAcatattttgatgccagtttt	14	16	6	5	0	1	3	1	2	0	1	1	3	1	3	1	0	3	2	1	0	5	7			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:116538514A>G	uc002tle.3	+	15	1459	c.1438A>G	c.(1438-1440)Aca>Gca	p.T480A	DPP10_uc002tla.2_Missense_Mutation_p.T476A|DPP10_uc002tlb.2_Missense_Mutation_p.T426A|DPP10_uc002tlc.2_Missense_Mutation_p.T472A|DPP10_uc002tlf.2_Missense_Mutation_p.T469A	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	476					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGAACAATGTACATATTTTGA	0.284													32	57					0	0	0.760397	0	0	G	116538514	A	G	116538514	3	3	123	1	0	0	0	0	1	0	0	0	4727	391	14	3	1659	3	DPP10	2	116538514	Missense_Mutation	SNP	A	TCGA-E1-5307-01A-01D-1893-08	2947367	116538514	126660859	13	5555											
CCDC93	54520	broad.mit.edu	37	chr2	118731539	118731539	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagagcagagtcccacaAtctggcccacggagcttgcg	10	5	12	14	2	1	2	0	0	1	2	2	3	2	3	2	2	4	3	2	2	1	1			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:118731539A>G	uc002tlj.3	-	10	1001	c.833T>C	c.(832-834)aTt>aCt	p.I278T	CCDC93_uc010fld.2_Missense_Mutation_p.I334T	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	Homo sapiens coiled-coil domain containing 93 (CCDC93), mRNA.	278										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						GAGTCCCACAATCTGGCCCAC	0.537													15	11					0	0	0.520397	0	0	G	118731539	A	G	118731539	3	3	123	1	0	0	0	0	1	0	0	0	2872	101	4	3	1118	3	CCDC93	2	118731539	Missense_Mutation	SNP	A	TCGA-E1-5307-01A-01D-1893-08	2193025	118731539	124467834	14	5556											
NEB	4703	broad.mit.edu	37	chr2	152374910	152374910	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgtggtagtggcctttactCttctcatacttcttcttgta	5	19	8	9	0	4	0	1	0	4	0	5	0	4	0	1	2	2	2	1	2	4	9			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:152374910C>G	uc021vrb.1	-	126	17648	c.17619G>C	c.(17617-17619)aaG>aaC	p.K5873N	NEB_uc002txr.3_Missense_Mutation_p.K2339N|NEB_uc002txu.3_Missense_Mutation_p.K7574N|NEB_uc021vrc.1_Missense_Mutation_p.K7574N|NEB_uc010fnx.3_Missense_Mutation_p.K5861N|NEB_uc021vrd.1_Missense_Mutation_p.K5873N|NEB_uc002txt.4_Missense_Mutation_p.K378N	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	5873					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGCCTTTACTCTTCTCATACT	0.433													9	311					0	0	0.361761	0	0	G	152374910	C	G	152374910	3	3	123	1	0	0	0	0	1	0	0	0	10302	912	32	5	2963	5	NEB	2	152374910	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	33643371	152374910	90824463	15	5557											
NEB	4703	broad.mit.edu	37	chr2	152376199	152376199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaagattattagcatctttCatgactttgtagagctggct	10	15	9	7	0	2	3	1	1	1	2	2	3	2	3	0	1	2	5	0	1	4	5			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:152376199C>T	uc021vrb.1	-	124	17489	c.17460G>A	c.(17458-17460)atG>atA	p.M5820I	NEB_uc002txr.3_Missense_Mutation_p.M2286I|NEB_uc002txu.3_Missense_Mutation_p.M7521I|NEB_uc021vrc.1_Missense_Mutation_p.M7521I|NEB_uc010fnx.3_Missense_Mutation_p.M5808I|NEB_uc021vrd.1_Missense_Mutation_p.M5820I|NEB_uc002txt.4_Missense_Mutation_p.M325I	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	5820					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAGCATCTTTCATGACTTTGT	0.323													10	118					0	0	0.435327	0	0	T	152376199	C	T	152376199	3	4	123	1	0	0	0	0	1	0	0	0	10302	826	29	3	3130	3	NEB	2	152376199	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	1289	152376199	90823174	16	5558											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								22	63					0	0	0.681144	0	0	T	209113112	C	T	209113112	3	4	123	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	56736913	209113112	34086261	17	5559											
SETMAR	6419	broad.mit.edu	37	chr3	4354791	4354791	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttgaatgcaatgtcctgtgCcgatgcagtgaccactgcag	9	11	11	10	1	0	2	0	2	0	0	1	3	1	2	3	0	4	3	3	0	2	1			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr3:4354791C>T	uc011asp.2	+	1	433	c.366C>T	c.(364-366)tgC>tgT	p.C122C	SUMF1_uc003bps.2_Intron|SETMAR_uc003bpw.4_Silent_p.C109C|SETMAR_uc011asq.2_Silent_p.C122C|SETMAR_uc003bpy.4_Intron|SETMAR_uc011asr.2_Missense_Mutation_p.A12V|SETMAR_uc010hbx.3_5'UTR	NM_006515	NP_006506	Q53H47	SETMR_HUMAN	Homo sapiens SET domain and mariner transposase fusion gene (SETMAR), transcript variant 1, mRNA.	109	Histone-lysine N-methyltransferase.|Pre-SET.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		ATGTCCTGTGCCGATGCAGTG	0.468								Chromatin Structure					3	42					0	0	0.115264	0	0	T	4354791	C	T	4354791	2	4	123	1	0	0	0	0	0	0	0	1	14140	747	26	3		3	SETMAR	3	4354791	Silent	SNP	C	TCGA-E1-5307-01A-01D-1893-08		4354791	193667639	18	5560											
PBRM1	55193	broad.mit.edu	37	chr3	52595944	52595944	+	Frame_Shift_Del	DEL	C	C	-																															tgttgattttccgtttggagCcttccttctttgcactgcct																										TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr3:52595944delC	uc003des.2	-	24	4139	c.4127delG	c.(4126-4128)ggcfs	p.G1376fs	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Frame_Shift_Del_p.G1376fs|PBRM1_uc003der.2_Frame_Shift_Del_p.G1344fs|PBRM1_uc003det.2_Frame_Shift_Del_p.G1391fs|PBRM1_uc003deu.2_Frame_Shift_Del_p.G1391fs|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Frame_Shift_Del_p.G1376fs|PBRM1_uc010hmk.1_Frame_Shift_Del_p.G1351fs|PBRM1_uc003dey.2_Frame_Shift_Del_p.G1324fs|PBRM1_uc003dez.1_Frame_Shift_Del_p.G1375fs	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	1376					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding	p.E1375*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CCGTTTGGAGCCTTCCTTCTT	0.463			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								82	100	---	---	---	---						-	52595944	C	-	52595944	7	5	123	1	0	1	0	1	0	0	0	0	11491	739	26	0	797	0	PBRM1	3	52595944	Frame_Shift_Del	DEL	C	TCGA-E1-5307-01A-01D-1893-08	48241153	52595944	145426486	19	5561											
OR5H2	79310	broad.mit.edu	37	chr3	98002530	98002530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttatcttcatgtatttgcgcCctgcatctccacaagcagat	9	14	6	12	1	3	1	1	0	2	1	4	1	3	1	2	0	3	3	2	0	3	4			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr3:98002530C>T	uc003dsj.1	+	0	799	c.799C>T	c.(799-801)Cct>Tct	p.P267S		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						GTATTTGCGCCCTGCATCTCC	0.398													11	80					0	0	0.411799	0	0	T	98002530	C	T	98002530	3	4	123	1	0	0	0	0	1	0	0	0	11162	623	22	3	801	3	OR5H2	3	98002530	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	45406586	98002530	100019900	20	5562											
TMCC1	23023	broad.mit.edu	37	chr3	129389499	129389499	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccgcatcatccacttgcccTtcctctaaagagtccttcag	8	11	5	17	1	3	1	2	0	1	1	6	1	6	1	5	0	1	1	5	0	2	4			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr3:129389499T>C	uc021xdy.1	-	3	1619	c.1185A>G	c.(1183-1185)gaA>gaG	p.E395E	TMCC1_uc003emy.4_Silent_p.E71E|TMCC1_uc011blc.2_Silent_p.E216E|TMCC1_uc010htg.3_Silent_p.E281E	NM_001017395	NP_001121696	O94876	TMCC1_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 1 (TMCC1), transcript variant 1, mRNA.	395						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CCACTTGCCCTTCCTCTAAAG	0.478													9	98					0	0	0.361761	0	0	C	129389499	T	C	129389499	2	2	123	1	0	0	0	0	0	0	0	1	15989	1606	56	4		4	TMCC1	3	129389499	Silent	SNP	T	TCGA-E1-5307-01A-01D-1893-08	31386969	129389499	68632931	21	5563											
RNF168	165918	broad.mit.edu	37	chr3	196229803	196229803	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccctgggatagtgttttTgaattatcgtccacagttcc	8	15	8	10	1	0	1	0	1	0	0	4	2	3	2	3	1	0	2	3	1	3	5			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr3:196229803T>C	uc003fwq.3	-	0	837	c.242A>G	c.(241-243)cAa>cGa	p.Q81R	RNF168_uc010iah.3_5'UTR	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Homo sapiens ring finger protein 168 (RNF168), mRNA.	81					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		ATAGTGTTTTTGAATTATCGT	0.512													32	57					0	0	0.769981	0	0	C	196229803	T	C	196229803	3	2	123	1	0	0	0	0	1	0	0	0	13459	1812	63	3	1497	3	RNF168	3	196229803	Missense_Mutation	SNP	T	TCGA-E1-5307-01A-01D-1893-08	66840304	196229803	1792627	22	5564											
PDHA2	5161	broad.mit.edu	37	chr4	96762461	96762461	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggatcaagtttaagtccgTcagttaaagggaggctacgt	12	11	12	6	2	2	0	2	0	0	0	3	2	3	2	1	3	1	3	1	3	5	4			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr4:96762461T>C	uc003htr.4	+	0	1223	c.1160T>C	c.(1159-1161)gTc>gCc	p.V387A		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	387					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			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)	TTTAAGTCCGTCAGTTAAAGG	0.398													44	63					0	0	0.870114	0	0	C	96762461	T	C	96762461	3	2	123	1	0	0	0	0	1	0	0	0	11665	1667	58	3	1162	3	PDHA2	4	96762461	Missense_Mutation	SNP	T	TCGA-E1-5307-01A-01D-1893-08		96762461	94391815	23	5565											
EGF	1950	broad.mit.edu	37	chr4	110895897	110895897	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtgatttaaatgggaaacGttccaaaataatcactaagg	17	10	9	5	1	1	1	1	1	0	0	2	3	2	2	1	2	1	1	1	2	7	5			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr4:110895897G>A	uc003hzy.4	+	11	2215	c.1763G>A	c.(1762-1764)cGt>cAt	p.R588H	EGF_uc011cfu.2_Missense_Mutation_p.R546H|EGF_uc011cfv.2_Missense_Mutation_p.R588H	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	588					DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	p.R588C(1)		breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	AATGGGAAACGTTCCAAAATA	0.353													12	34					0	0	0.520397	0	0	A	110895897	G	A	110895897	3	1	123	1	0	0	0	0	1	0	0	0	4962	1145	40	1	1809	1	EGF	4	110895897	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	14133436	110895897	80258379	24	5566											
MYO10	4651	broad.mit.edu	37	chr5	16694556	16694556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacatcagcttggactggcGgaggacaaaccagcgcttct	10	8	12	11	2	2	0	1	0	1	0	2	3	2	3	1	4	4	3	1	4	2	3			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr5:16694556G>A	uc003jft.4	-	26	4192	c.3724C>T	c.(3724-3726)Cgc>Tgc	p.R1242C	MYO10_uc011cnc.2_Missense_Mutation_p.R121C|MYO10_uc011cnd.2_Missense_Mutation_p.R599C|MYO10_uc011cne.2_Missense_Mutation_p.R599C|MYO10_uc010itx.3_Missense_Mutation_p.R865C	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1242	PH 1.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TTGGACTGGCGGAGGACAAAC	0.567													4	221					0	0	0.150653	0	0	A	16694556	G	A	16694556	3	1	123	1	0	0	0	0	1	0	0	0	10062	1116	39	2	2512	2	MYO10	5	16694556	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08		16694556	164220704	25	5567											
IL6ST	3572	broad.mit.edu	37	chr5	55250757	55250757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacagattcccttggagtaGtccattccacccaaagcatg	11	11	7	12	0	0	1	0	0	0	1	3	2	3	2	4	1	2	2	4	1	3	5			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr5:55250757G>A	uc003jqq.3	-	10	1644	c.1331C>T	c.(1330-1332)aCt>aTt	p.T444I	IL6ST_uc003jqp.3_Intron|IL6ST_uc010iwd.3_Intron|IL6ST_uc011cqk.2_Missense_Mutation_p.T155I|IL6ST_uc003jqr.3_3'UTR|IL6ST_uc010iwb.3_Intron	NM_002184	NP_002175	P40189	IL6RB_HUMAN	Homo sapiens interleukin 6 signal transducer (gp130, oncostatin M receptor) (IL6ST), transcript variant 1, mRNA.	444	Fibronectin type-III 4.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of T cell proliferation|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				CCTTGGAGTAGTCCATTCCAC	0.368			O		hepatocellular ca								9	216					0	0	0.361761	0	0	A	55250757	G	A	55250757	3	1	123	1	0	0	0	0	1	0	0	0	7703	1029	36	3	1453	3	IL6ST	5	55250757	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	38556201	55250757	125664503	26	5568											
RASA1	5921	broad.mit.edu	37	chr5	86627234	86627238	+	Frame_Shift_Del	DEL	TTATC	TTATC	-																															caggcagggaagtctggcagTtatcttataagagagagtga																										TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr5:86627234_86627238delTTATC	uc003kiw.3	+	1	808_812	c.609_613delTTATC	c.(607-615)agttatcttfs	p.S203fs	RASA1_uc010jav.3_Non-coding_Transcript|RASA1_uc003kix.3_Frame_Shift_Del_p.S26fs|RASA1_uc011ctv.2_Frame_Shift_Del_p.S36fs|RASA1_uc011ctw.2_Frame_Shift_Del_p.S37fs|RASA1_uc010jaw.3_Frame_Shift_Del_p.S26fs	NM_002890	NP_002881	P20936	RASA1_HUMAN	Homo sapiens RAS p21 protein activator (GTPase activating protein) 1 (RASA1), transcript variant 1, mRNA.	203	SH2 1.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of Ras protein signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|regulation of RNA metabolic process|regulation of actin filament polymerization|regulation of cell shape|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	GTPase binding|Ras GTPase activator activity|glycoprotein binding|potassium channel inhibitor activity|receptor binding	p.L205L(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AGTCTGGCAGTTATCTTATAAGAGA	0.415													14	69	---	---	---	---						-	86627238	TTATC	-	86627234	7	5	123	1	0	1	0	1	0	0	0	0	13060	1722	60	0	627	0	RASA1	5	86627234	Frame_Shift_Del	DEL	TTATC	TCGA-E1-5307-01A-01D-1893-08	31376477	86627234	94288026	27	5569											
PCDHGC5	56097	broad.mit.edu	37	chr5	140769361	140769361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgacagggacgccgtccGccagcgccttctggtcgccg	5	5	15	16	7	1	0	0	0	1	0	3	2	2	1	5	3	1	0	5	3	0	1			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr5:140769361G>A	uc003lkc.2	+	0	1910	c.1910G>A	c.(1909-1911)cGc>cAc	p.R637H	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	641	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGCCGTCCGCCAGCGCCTT	0.692													19	46					0	0	0.575678	0	0	A	140769361	G	A	140769361	3	1	123	1	0	0	0	0	1	0	0	0	11571	1087	38	1		1	PCDHGC5	5	140769361	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	54142127	140769361	40145899	28	5570											
WRNIP1	56897	broad.mit.edu	37	chr6	2770460	2770463	+	Frame_Shift_Del	DEL	TGAT	TGAT	-																															tcttctgagccgctgtcgagTgattgttcttgagaagcttc																								rs144020288		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr6:2770460_2770463delTGAT	uc003mtz.3	+	2	1312_1315	c.1121_1124delTGAT	c.(1120-1125)gtgattfs	p.V374fs	WRNIP1_uc003mua.3_Frame_Shift_Del_p.V349fs	NM_020135	NP_064520	Q96S55	WRIP1_HUMAN	Homo sapiens Werner helicase interacting protein 1 (WRNIP1), transcript variant 1, mRNA.	374					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				CGCTGTCGAGTGATTGTTCTTGAG	0.52													7	173	---	---	---	---						-	2770463	TGAT	-	2770460	7	5	123	1	0	1	0	1	0	0	0	0	17400	1696	59	0	1131	0	WRNIP1	6	2770460	Frame_Shift_Del	DEL	TGAT	TCGA-E1-5307-01A-01D-1893-08		2770460	168344607	29	5571											
DHX16	8449	broad.mit.edu	37	chr6	30632747	30632747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttctgctgggcctgagttGaagtgggtggagctgacggc	5	11	17	8	1	1	3	0	3	1	0	1	4	1	4	1	4	2	3	1	4	1	2			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr6:30632747G>A	uc003nqz.3	-	6	1360	c.1148C>T	c.(1147-1149)tCa>tTa	p.S383L	DHX16_uc003nqy.3_5'Flank|DHX16_uc011dmo.2_Missense_Mutation_p.S323L	NM_003587	NP_003578	O60231	DHX16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.	383					RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding			kidney(2)|ovary(2)	4						GGCCTGAGTTGAAGTGGGTGG	0.567													6	55					0	0	0.217242	0	0	A	30632747	G	A	30632747	3	1	123	1	0	0	0	0	1	0	0	0	4502	1294	45	3	2033	3	DHX16	6	30632747	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	27862287	30632747	140482320	30	5572											
TRERF1	55809	broad.mit.edu	37	chr6	42196333	42196333	+	Frame_Shift_Del	DEL	T	T	-																															caaaagccgccttctgagccTtttgcctctgttgttcctcc																										TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr6:42196333delT	uc003ose.2	-	17	3976	c.3413delA	c.(3412-3414)aagfs	p.K1138fs	TRERF1_uc011duq.1_Frame_Shift_Del_p.K1035fs|TRERF1_uc003osb.2_Frame_Shift_Del_p.K886fs|TRERF1_uc003osc.2_Frame_Shift_Del_p.K874fs|TRERF1_uc003osd.2_Frame_Shift_Del_p.K1118fs	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	1118	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.P1138P(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTGAGCCTTTTGCCTCTG	0.542													7	801	---	---	---	---						-	42196333	T	-	42196333	7	5	123	1	0	1	0	1	0	0	0	0	16472	1609	56	0	253	0	TRERF1	6	42196333	Frame_Shift_Del	DEL	T	TCGA-E1-5307-01A-01D-1893-08	11563586	42196333	128918734	31	5573											
MEP1A	4224	broad.mit.edu	37	chr6	46803179	46803179	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggtcggtggagaacacaggCcccctggaggaccataactg	10	5	14	12	2	0	1	0	0	0	1	1	4	0	3	3	6	2	0	3	6	2	1			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr6:46803179C>T	uc011dwh.1	+	11	2069	c.2061C>T	c.(2059-2061)ggC>ggT	p.G687G	MEP1A_uc010jzh.1_Silent_p.G659G|MEP1A_uc011dwg.1_Silent_p.G381G|MEP1A_uc011dwi.1_Silent_p.G559G	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	659	EGF-like.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AGAACACAGGCCCCCTGGAGG	0.587													3	21					0	0	0.115264	0	0	T	46803179	C	T	46803179	2	4	123	1	0	0	0	0	0	0	0	1	9475	726	26	3		3	MEP1A	6	46803179	Silent	SNP	C	TCGA-E1-5307-01A-01D-1893-08	4606846	46803179	124311888	32	5574											
SDK1	221935	broad.mit.edu	37	chr7	4026875	4026875	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaattcttcccacagccaCgccgtggtgctctcttgggt	5	12	9	15	2	2	0	0	0	2	0	4	0	3	0	4	2	2	1	4	2	1	4			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr7:4026875C>T	uc003smx.3	+	13	2191	c.2052C>T	c.(2050-2052)caC>caT	p.H684H		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	684	Fibronectin type-III 1.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCACAGCCACGCCGTGGTGC	0.458													19	157					0	0	0.592651	0	0	T	4026875	C	T	4026875	2	4	123	1	0	0	0	0	0	0	0	1	13968	535	19	1		1	SDK1	7	4026875	Silent	SNP	C	TCGA-E1-5307-01A-01D-1893-08		4026875	155111788	33	5575											
CDHR3	222256	broad.mit.edu	37	chr7	105669001	105669001	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttctgttctctgcagaaacGaagactgcagagagagacgt	12	9	12	8	2	2	4	0	0	2	4	3	7	2	4	0	0	3	4	0	0	2	2			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr7:105669001G>A	uc003vdl.4	+	16	2385	c.2277G>A	c.(2275-2277)acG>acA	p.T759T	CDHR3_uc003vdk.3_Missense_Mutation_p.E191K|CDHR3_uc003vdm.4_Silent_p.T746T|CDHR3_uc011klt.2_Silent_p.T671T|CDHR3_uc003vdn.3_Missense_Mutation_p.E260K	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	Homo sapiens cadherin-related family member 3 (CDHR3), mRNA.	759					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CTGCAGAAACGAAGACTGCAG	0.537													19	32					0	0	0.624587	0	0	A	105669001	G	A	105669001	2	1	123	1	0	0	0	0	0	0	0	1	3120	1045	37	2		2	CDHR3	7	105669001	Silent	SNP	G	TCGA-E1-5307-01A-01D-1893-08	101642126	105669001	53469662	34	5576											
FLNC	2318	broad.mit.edu	37	chr7	128488741	128488741	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accatcgacgcacgggacgcGggcgaggggttgctcactgt	7	6	16	12	6	1	0	1	0	0	0	2	3	1	1	1	4	1	3	1	4	0	1			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr7:128488741G>A	uc003vnz.4	+	26	4916	c.4707G>A	c.(4705-4707)gcG>gcA	p.A1569A	FLNC_uc003voa.4_Silent_p.A1569A	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1569					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CACGGGACGCGGGCGAGGGGT	0.657													4	184					0	0	0.150653	0	0	A	128488741	G	A	128488741	2	1	123	1	0	0	0	0	0	0	0	1	5935	1103	39	2		2	FLNC	7	128488741	Silent	SNP	G	TCGA-E1-5307-01A-01D-1893-08	22819740	128488741	30649922	35	5577											
ZC3HAV1L	92092	broad.mit.edu	37	chr7	138711561	138711561	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggccttgtgaatgctcaGtcgaaggtgatgaattatct	11	12	11	7	1	2	3	1	3	1	0	3	4	2	3	1	2	1	1	1	2	5	2			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr7:138711561G>C	uc003vum.1	-	3	791	c.779C>G	c.(778-780)aCt>aGt	p.T260S		NM_080660	NP_542391	Q96H79	ZCCHL_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1-like (ZC3HAV1L), mRNA.	260										NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						TGAATGCTCAGTCGAAGGTGA	0.517													9	49					0	0	0.307466	0	0	C	138711561	G	C	138711561	3	2	123	1	0	0	0	0	1	0	0	0	17573	1029	36	5	131	5	ZC3HAV1L	7	138711561	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	10222820	138711561	20427102	36	5578											
DLC1	10395	broad.mit.edu	37	chr8	12946019	12946019	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaacgtagtctcgagcAggatgaggtgccatactgtt	13	9	11	8	2	1	1	0	1	1	0	2	3	1	2	1	2	5	3	1	2	5	3			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:12946019A>C	uc003wwm.2	-	15	4713	c.4269T>G	c.(4267-4269)ccT>ccG	p.P1423P	DLC1_uc003wwk.1_Silent_p.P986P|DLC1_uc003wwl.1_Silent_p.P1020P|DLC1_uc011kxx.1_Silent_p.P912P	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	1423	START.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AGTCTCGAGCAGGATGAGGTG	0.423													18	93					0	0	0.539581	0	0	C	12946019	A	C	12946019	2	2	123	1	0	0	0	0	0	0	0	1	4550	175	7	5		5	DLC1	8	12946019	Silent	SNP	A	TCGA-E1-5307-01A-01D-1893-08		12946019	133418003	37	5579											
MTUS1	57509	broad.mit.edu	37	chr8	17581236	17581236	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctattgagggggtgctTcctgtcctccgcagcgcagg	4	10	15	12	2	0	1	0	1	0	0	3	1	3	1	3	4	2	4	3	4	1	3			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:17581236T>G	uc003wxv.3	-	3	2868	c.2394A>C	c.(2392-2394)ggA>ggC	p.G798G	MTUS1_uc003wxt.3_5'Flank|MTUS1_uc011kyg.2_5'Flank|MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Intron|MTUS1_uc010lsz.3_Silent_p.G798G	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.	798						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AGGGGGTGCTTCCTGTCCTCC	0.483													14	112					0	0	0.435327	0	0	G	17581236	T	G	17581236	2	3	123	1	0	0	0	0	0	0	0	1	9965	1770	62	5		5	MTUS1	8	17581236	Silent	SNP	T	TCGA-E1-5307-01A-01D-1893-08	4635217	17581236	128782786	38	5580											
PSD3	23362	broad.mit.edu	37	chr8	18393458	18393458	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatgctgacatacatttcaTagcgggttttctgaaggcaa	12	12	10	7	1	2	2	1	2	1	0	2	3	2	2	0	2	3	3	0	2	5	5			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:18393458T>C	uc003wza.3	-	15	3042	c.2939A>G	c.(2938-2940)tAt>tGt	p.Y980C	PSD3_uc003wyx.4_Missense_Mutation_p.Y309C|PSD3_uc003wyy.3_Missense_Mutation_p.Y446C|PSD3_uc003wyz.3_Missense_Mutation_p.Y281C	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	981					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ATACATTTCATAGCGGGTTTT	0.483													13	86					0	0	0.435327	0	0	C	18393458	T	C	18393458	3	2	123	1	0	0	0	0	1	0	0	0	12648	1406	49	3	208	3	PSD3	8	18393458	Missense_Mutation	SNP	T	TCGA-E1-5307-01A-01D-1893-08	812222	18393458	127970564	39	5581											
UNC5D	137970	broad.mit.edu	37	chr8	35406823	35406823	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacaggaactgacaatggCgaagcccttcccgaatccat	12	8	8	13	2	1	1	1	1	0	0	3	4	3	2	3	2	2	0	3	2	4	2			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:35406823C>T	uc003xjr.2	+	1	445	c.117C>T	c.(115-117)ggC>ggT	p.G39G	UNC5D_uc003xjs.2_Silent_p.G34G	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	39					apoptosis|axon guidance	integral to membrane	receptor activity	p.G34G(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CTGACAATGGCGAAGCCCTTC	0.468													24	47					0	0	0.667858	0	0	T	35406823	C	T	35406823	2	4	123	1	0	0	0	0	0	0	0	1	16992	755	27	1		1	UNC5D	8	35406823	Silent	SNP	C	TCGA-E1-5307-01A-01D-1893-08	17013365	35406823	110957199	40	5582											
RBM12B	389677	broad.mit.edu	37	chr8	94747027	94747027	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctggggatgcttgaagttatCcagttgcctcaagtcctcta	8	13	10	10	0	2	1	1	1	1	0	4	2	4	2	3	2	2	3	3	2	4	4			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747027C>G	uc022aye.1	-	0	1612	c.1612G>C	c.(1612-1614)Gat>Cat	p.D538H	RBM12B_uc003yfz.3_Missense_Mutation_p.D538H	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	538							RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TTGAAGTTATCCAGTTGCCTC	0.493													19	122					0	0	0.557998	0	0	G	94747027	C	G	94747027	3	3	123	1	0	0	0	0	1	0	0	0	13114	855	30	5	1397	5	RBM12B	8	94747027	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	59340204	94747027	51616995	41	5583			1	12		10	10	1105	C		1.563717e-28
RBM12B	389677	broad.mit.edu	37	chr8	94747221	94747221	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgtgcctcagatataagtCttaataacacctctgtccct	10	15	5	11	0	3	1	1	0	2	1	4	1	4	1	3	0	2	0	3	0	4	5			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747221C>G	uc022aye.1	-	0	1418	c.1418G>C	c.(1417-1419)aGa>aCa	p.R473T	RBM12B_uc003yfz.3_Missense_Mutation_p.R473T	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	473	RRM 3.						RNA binding|nucleotide binding	p.R473*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AGATATAAGTCTTAATAACAC	0.423													35	211					0	0	0.796494	0	0	G	94747221	C	G	94747221	3	3	123	1	0	0	0	0	1	0	0	0	13114	913	32	5	1591	5	RBM12B	8	94747221	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	194	94747221	51616801	42	5584			1	12		10	10	1105	C		1.563717e-28
RBM12B	389677	broad.mit.edu	37	chr8	94747336	94747336	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaccaacacctttgtcatCataaagcaagtaaatgtcat	16	10	5	10	0	3	1	3	0	0	1	3	1	3	1	2	0	2	2	2	0	6	3			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747336C>T	uc022aye.1	-	0	1303	c.1303G>A	c.(1303-1305)Gat>Aat	p.D435N	RBM12B_uc003yfz.3_Missense_Mutation_p.D435N	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	435	RRM 3.						RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CCTTTGTCATCATAAAGCAAG	0.373													32	165					0	0	0.750413	0	0	T	94747336	C	T	94747336	3	4	123	1	0	0	0	0	1	0	0	0	13114	826	29	3	1706	3	RBM12B	8	94747336	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	115	94747336	51616686	43	5585			1	12		10	10	1105	C		1.563717e-28
RBM12B	389677	broad.mit.edu	37	chr8	94747712	94747712	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacctaatctgttcatcagtCagatcagtacctctaaagaa	15	11	5	10	0	6	2	4	0	2	2	6	2	6	2	2	0	2	2	2	0	6	4			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747712C>G	uc022aye.1	-	0	927	c.927G>C	c.(925-927)ctG>ctC	p.L309L	RBM12B_uc003yfz.3_Silent_p.L309L	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	309	RRM 2.						RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GTTCATCAGTCAGATCAGTAC	0.343													12	67					0	0	0.38729	0	0	G	94747712	C	G	94747712	2	3	123	1	0	0	0	0	0	0	0	1	13114	813	29	5		5	RBM12B	8	94747712	Silent	SNP	C	TCGA-E1-5307-01A-01D-1893-08	376	94747712	51616310	44	5586			1	12		10	10	1105	C		1.563717e-28
RBM12B	389677	broad.mit.edu	37	chr8	94747854	94747854	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaccgttttcgaaaatgtCtatcattaattcctcttggt	10	16	7	8	2	3	1	1	0	2	1	5	3	4	1	2	1	0	1	2	1	4	6			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747854C>G	uc022aye.1	-	0	785	c.785G>C	c.(784-786)aGa>aCa	p.R262T	RBM12B_uc003yfz.3_Missense_Mutation_p.R262T	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	262							RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCGAAAATGTCTATCATTAAT	0.398													12	105					0	0	0.38729	0	0	G	94747854	C	G	94747854	3	3	123	1	0	0	0	0	1	0	0	0	13114	913	32	5	2224	5	RBM12B	8	94747854	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	142	94747854	51616168	45	5587			1	12		10	10	1105	C		1.563717e-28
RBM12B	389677	broad.mit.edu	37	chr8	94747893	94747893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggagaatgttcttcagatCtcctaagaacgtcaccctcc	10	11	8	12	1	4	3	2	0	2	3	6	4	5	3	3	1	1	1	3	1	3	3			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747893C>T	uc022aye.1	-	0	746	c.746G>A	c.(745-747)aGa>aAa	p.R249K	RBM12B_uc003yfz.3_Missense_Mutation_p.R249K	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	249							RNA binding|nucleotide binding	p.R248K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TTCTTCAGATCTCCTAAGAAC	0.398													11	134					0	0	0.457914	0	0	T	94747893	C	T	94747893	3	4	123	1	0	0	0	0	1	0	0	0	13114	913	32	3	2263	3	RBM12B	8	94747893	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	39	94747893	51616129	46	5588			1	12		10	10	1105	C		1.563717e-28
RBM12B	389677	broad.mit.edu	37	chr8	94747940	94747940	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcattaccaccaaactcaatCcactgttgttctgatccttg	10	13	5	13	0	2	1	1	1	1	0	4	1	4	1	4	0	2	3	4	0	3	4			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747940C>A	uc022aye.1	-	0	699	c.699G>T	c.(697-699)tgG>tgT	p.W233C	RBM12B_uc003yfz.3_Missense_Mutation_p.W233C	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	233							RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CAAACTCAATCCACTGTTGTT	0.373													21	133					6.44725e-10	6.74031e-10	0.624587	1	0	A	94747940	C	A	94747940	3	1	123	1	0	0	0	0	1	0	0	0	13114	856	30	5	2310	5	RBM12B	8	94747940	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	47	94747940	51616082	47	5589			1	12		10	10	1105	C		1.563717e-28
RBM12B	389677	broad.mit.edu	37	chr8	94747956	94747956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caatccactgttgttctgatCcttgcattacttctataaat	10	17	4	10	0	2	1	0	1	2	0	4	1	4	1	2	0	2	3	2	0	5	7			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747956C>T	uc022aye.1	-	0	683	c.683G>A	c.(682-684)gGa>gAa	p.G228E	RBM12B_uc003yfz.3_Missense_Mutation_p.G228E	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	228	RRM 1.						RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TTGTTCTGATCCTTGCATTAC	0.383													20	147					0	0	0.608945	0	0	T	94747956	C	T	94747956	3	4	123	1	0	0	0	0	1	0	0	0	13114	855	30	3	2326	3	RBM12B	8	94747956	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	16	94747956	51616066	48	5590			1	12		10	10	1105	C		1.563717e-28
RBM12B	389677	broad.mit.edu	37	chr8	94748053	94748053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaaattttactatggcatCaccattatttcggccatcat	12	14	5	10	1	2	0	2	0	0	0	3	0	2	0	2	2	2	2	2	2	4	5			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94748053C>T	uc022aye.1	-	0	586	c.586G>A	c.(586-588)Gat>Aat	p.D196N	RBM12B_uc003yfz.3_Missense_Mutation_p.D196N	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	196	RRM 1.						RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			ACTATGGCATCACCATTATTT	0.363													18	136					0	0	0.557998	0	0	T	94748053	C	T	94748053	3	4	123	1	0	0	0	0	1	0	0	0	13114	826	29	3	2423	3	RBM12B	8	94748053	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	97	94748053	51615969	49	5591			1	12		10	10	1105	C		1.563717e-28
RBM12B	389677	broad.mit.edu	37	chr8	94748131	94748131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagaaaaagacacgtacatCatcttcatttactaggtaag	17	10	7	7	1	3	2	2	0	1	2	3	3	3	2	0	1	2	2	0	1	6	6			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94748131C>T	uc022aye.1	-	0	508	c.508G>A	c.(508-510)Gat>Aat	p.D170N	RBM12B_uc003yfz.3_Missense_Mutation_p.D170N	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	170	RRM 1.						RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			ACACGTACATCATCTTCATTT	0.393													11	74					0	0	0.38729	0	0	T	94748131	C	T	94748131	3	4	123	1	0	0	0	0	1	0	0	0	13114	826	29	3	2501	3	RBM12B	8	94748131	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	78	94748131	51615891	50	5592			1	12		10	10	1105	C		1.563717e-28
DENND4C	55667	broad.mit.edu	37	chr9	19360274	19360274	+	Frame_Shift_Del	DEL	T	T	-																															aaaagacccaatcctcccccTgtttctgtgccctacttgag																										TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr9:19360274delT	uc003znq.3	+	23	4418	c.4338delT	c.(4336-4338)cctfs	p.P1446fs	DENND4C_uc011lnc.2_Frame_Shift_Del_p.P776fs|DENND4C_uc011lnd.2_Frame_Shift_Del_p.P734fs|DENND4C_uc003znr.3_Frame_Shift_Del_p.P734fs|DENND4C_uc003zns.3_Frame_Shift_Del_p.P628fs	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	Homo sapiens DENN/MADD domain containing 4C (DENND4C), mRNA.	1446						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ATCCTCCCCCTGTTTCTGTGC	0.353													28	115	---	---	---	---						-	19360274	T	-	19360274	7	5	123	1	0	1	0	1	0	0	0	0	4435	1567	55	0	4432	0	DENND4C	9	19360274	Frame_Shift_Del	DEL	T	TCGA-E1-5307-01A-01D-1893-08		19360274	121853157	51	5593											
UNC13B	10497	broad.mit.edu	37	chr9	35366984	35366984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctgcctcagtggctccCggaagggtaagtaattcact	8	11	10	12	1	3	0	2	0	1	0	5	1	4	1	2	3	1	3	2	3	3	3			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr9:35366984C>T	uc003zwr.3	+	10	1500	c.1208C>T	c.(1207-1209)cCg>cTg	p.P403L	UNC13B_uc010mkl.1_Missense_Mutation_p.R411W|UNC13B_uc003zwq.3_Missense_Mutation_p.P403L|UNC13B_uc010mkm.1_Non-coding_Transcript	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	403					excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CAGTGGCTCCCGGAAGGGTAA	0.448													39	48					0	0	0.834066	0	0	T	35366984	C	T	35366984	3	4	123	1	0	0	0	0	1	0	0	0	16982	652	23	2	1250	2	UNC13B	9	35366984	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	16006710	35366984	105846447	52	5594											
ROR2	4920	broad.mit.edu	37	chr9	94495542	94495542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggagcgggcgatggtgtactCctggcggcacaggtcgctct	5	8	17	11	4	1	0	0	0	1	0	3	2	2	1	1	6	2	3	1	6	1	1			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr9:94495542C>T	uc004arj.2	-	5	998	c.799G>A	c.(799-801)Gag>Aag	p.E267K	ROR2_uc004ari.1_Missense_Mutation_p.E127K|ROR2_uc004ark.3_Missense_Mutation_p.E267K	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	267	FZ.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATGGTGTACTCCTGGCGGCAC	0.672													7	27					0	0	0.307466	0	0	T	94495542	C	T	94495542	3	4	123	1	0	0	0	0	1	0	0	0	13527	864	30	3	2048	3	ROR2	9	94495542	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	59128558	94495542	46717889	53	5595											
ZNF462	58499	broad.mit.edu	37	chr9	109689383	109689383	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcttcctactttaggatcCagaaaactatgcgaatggtg	12	11	10	8	1	0	1	0	0	0	1	2	3	2	2	2	3	3	1	2	3	6	5			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr9:109689383C>T	uc004bcz.3	+	2	3479	c.3190C>T	c.(3190-3192)Cag>Tag	p.Q1064*	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Nonsense_Mutation_p.Q912*|ZNF462_uc004bda.3_Nonsense_Mutation_p.Q912*	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	1064					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CTTTAGGATCCAGAAAACTAT	0.453													12	124					0	0	0.38729	0	0	T	109689383	C	T	109689383	4	4	123	1	0	0	0	0	0	1	0	0	17923	595	21	3	3196	3	ZNF462	9	109689383	Nonsense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	15193841	109689383	31524048	54	5596											
RGS3	5998	broad.mit.edu	37	chr9	116358026	116358026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctttgctgaatacatcgCgatccaggcatgcaaggagg	11	9	12	9	2	1	1	0	1	1	0	3	4	2	2	1	3	3	3	1	3	3	2	rs144334750		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr9:116358026C>T	uc004bhq.3	+	24	3601	c.3392C>T	c.(3391-3393)gCg>gTg	p.A1131V	RGS3_uc004bhs.3_Missense_Mutation_p.A1021V|RGS3_uc004bht.3_Missense_Mutation_p.A850V|RGS3_uc010muy.3_Missense_Mutation_p.A524V|RGS3_uc004bhv.3_Missense_Mutation_p.A452V|RGS3_uc004bhw.3_Missense_Mutation_p.A101V|RGS3_uc011lxh.2_Missense_Mutation_p.A452V|RGS3_uc004bhx.3_Missense_Mutation_p.A452V|RGS3_uc004bhz.3_Missense_Mutation_p.A473V|RGS3_uc004bia.3_Missense_Mutation_p.A244V	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	1131	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GAATACATCGCGATCCAGGCA	0.567													27	51					0	0	0.706142	0	0	T	116358026	C	T	116358026	3	4	123	1	0	0	0	0	1	0	0	0	13306	768	27	1	4162	1	RGS3	9	116358026	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	6668643	116358026	24855405	55	5597											
TRIM32	22954	broad.mit.edu	37	chr9	119461244	119461244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctttttgaaggaaatccGccgcagccccagtggcattg	9	9	12	11	2	0	1	0	1	0	0	1	2	1	2	4	3	1	3	4	3	2	3			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr9:119461244G>A	uc022bmo.1	+	0	1223	c.1223G>A	c.(1222-1224)cGc>cAc	p.R408H	ASTN2_uc022bml.1_Intron|ASTN2_uc022bmm.1_Intron|ASTN2_uc004bjt.2_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.R408H|TRIM32_uc004bjx.2_Missense_Mutation_p.R408H	NM_012210	NP_036342	Q13049	TRI32_HUMAN	Homo sapiens tripartite motif containing 32 (TRIM32), transcript variant 1, mRNA.	408			R -> C (in dbSNP:rs3747835).		fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV|response to tumor necrosis factor	nucleus	RNA binding|Tat protein binding|myosin binding|protein self-association|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						AAGGAAATCCGCCGCAGCCCC	0.517													84	101					0	0	0.870114	0	0	A	119461244	G	A	119461244	3	1	123	1	0	0	0	0	1	0	0	0	16503	1087	38	1	1225	1	TRIM32	9	119461244	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	3103218	119461244	21752187	56	5598											
ANAPC2	29882	broad.mit.edu	37	chr9	140079392	140079392	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgctgaagagctcctcgaTgcgcaggctggcgtagatgc	8	8	15	10	3	0	3	0	1	0	2	2	5	1	3	1	2	4	5	1	2	2	1			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr9:140079392T>C	uc004clr.1	-	3	1094	c.1021A>G	c.(1021-1023)Atc>Gtc	p.I341V	ANAPC2_uc004clq.1_Missense_Mutation_p.I200V	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	Homo sapiens anaphase promoting complex subunit 2 (ANAPC2), mRNA.	341					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		AGCTCCTCGATGCGCAGGCTG	0.701													6	43					0	0	0.248553	0	0	C	140079392	T	C	140079392	3	2	123	1	0	0	0	0	1	0	0	0	603	1464	51	3	1487	3	ANAPC2	9	140079392	Missense_Mutation	SNP	T	TCGA-E1-5307-01A-01D-1893-08	20618148	140079392	1134039	57	5599											
PRF1	5551	broad.mit.edu	37	chr10	72358728	72358728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctccacctcgttgtccGtgagcccttccagggccagc	5	9	10	17	2	0	1	0	1	0	0	5	1	4	1	7	1	2	1	7	1	0	2			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr10:72358728G>A	uc009xqg.3	-	2	910	c.749C>T	c.(748-750)aCg>aTg	p.T250M	PRF1_uc001jrf.4_Missense_Mutation_p.T250M	NM_001083116	NP_005032	P14222	PERF_HUMAN	Homo sapiens perforin 1 (pore forming protein) (PRF1), transcript variant 2, mRNA.	250	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CTCGTTGTCCGTGAGCCCTTC	0.637			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				31	36					0	0	0.769981	0	0	A	72358728	G	A	72358728	3	1	123	1	0	0	0	0	1	0	0	0	12478	1145	40	1	922	1	PRF1	10	72358728	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08		72358728	63176019	58	5600											
IDE	3416	broad.mit.edu	37	chr10	94266256	94266256	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcctctctttgtctttaaaCctaaaagcaacagcattcaa	13	12	5	11	0	3	0	1	0	2	0	4	0	3	0	2	1	4	2	2	1	6	5			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr10:94266256C>T	uc001kia.3	-	9	1345	c.1269G>A	c.(1267-1269)agG>agA	p.R423R		NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	423					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGTCTTTAAACCTAAAAGCAA	0.343													5	115					0	0	0.217242	0	0	T	94266256	C	T	94266256	2	4	123	1	0	0	0	0	0	0	0	1	7493	506	18	3		3	IDE	10	94266256	Silent	SNP	C	TCGA-E1-5307-01A-01D-1893-08	21907528	94266256	41268491	59	5601											
BTRC	8945	broad.mit.edu	37	chr10	103281443	103281443	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgattgtgcccaagcaacgGaaactctcagcaagctatga	14	8	9	10	1	1	2	1	2	1	0	2	3	1	3	1	1	6	3	1	1	5	2			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr10:103281443G>A	uc001kta.3	+	4	485	c.372G>A	c.(370-372)cgG>cgA	p.R124R	BTRC_uc001ktb.3_Silent_p.R88R|BTRC_uc001ktc.3_Silent_p.R98R	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA.	124					Wnt receptor signaling pathway|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction	SCF ubiquitin ligase complex|cytosol|nucleus				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCAAGCAACGGAAACTCTCAG	0.388													5	64					0	0	0.217242	0	0	A	103281443	G	A	103281443	2	1	123	1	0	0	0	0	0	0	0	1	1569	1161	41	3		3	BTRC	10	103281443	Silent	SNP	G	TCGA-E1-5307-01A-01D-1893-08	9015187	103281443	32253304	60	5602											
MS4A8B	83661	broad.mit.edu	37	chr11	60476228	60476228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccacccatatgcctaccccGactattatccttacgcctgg	8	10	5	18	2	0	0	0	0	0	0	1	1	1	0	7	1	3	0	7	1	5	5			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr11:60476228G>A	uc001npv.3	+	4	711	c.508G>A	c.(508-510)Gac>Aac	p.D170N	MS4A8B_uc009yne.1_Missense_Mutation_p.D170N	NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 8B (MS4A8B), mRNA.	170						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TGCCTACCCCGACTATTATCC	0.463													17	88					0	0	0.539581	0	0	A	60476228	G	A	60476228	3	1	123	1	0	0	0	0	1	0	0	0	9867	1058	37	2	522	2	MS4A8B	11	60476228	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08		60476228	74530288	61	5603											
P2RY2	5029	broad.mit.edu	37	chr11	72945337	72945337	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctacggcgtggtgtgcGtgcctgggctgtgtctgaac	3	12	16	10	3	1	1	0	1	1	0	2	1	2	1	2	3	4	1	2	3	2	1			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr11:72945337G>A	uc021qna.1	+	0	133	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	P2RY2_uc001otk.3_Missense_Mutation_p.V45M|P2RY2_uc001otj.3_Missense_Mutation_p.V45M|P2RY2_uc001otl.3_Missense_Mutation_p.V45M	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	45					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CGTGGTGTGCGTGCCTGGGCT	0.587													17	146					0	0	0.557998	0	0	A	72945337	G	A	72945337	3	1	123	1	0	0	0	0	1	0	0	0	11352	1145	40	1	135	1	P2RY2	11	72945337	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	12469109	72945337	62061179	62	5604											
CEP164	22897	broad.mit.edu	37	chr11	117266823	117266823	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgttgagagaagtgacagTtgaggaaaataatgcttccc	13	10	11	7	0	0	4	0	3	0	1	1	6	1	5	2	1	1	3	2	1	4	4			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr11:117266823T>C	uc001prc.3	+	24	3290	c.3143T>C	c.(3142-3144)gTt>gCt	p.V1048A	CEP164_uc001prb.3_Missense_Mutation_p.V1051A|CEP164_uc010rxk.1_Missense_Mutation_p.V1022A|CEP164_uc001prf.3_Intron|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_Missense_Mutation_p.V481A	NM_014956	NP_055771	Q9UPV0	CE164_HUMAN	Homo sapiens centrosomal protein 164kDa (CEP164), mRNA.	1048					DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GAAGTGACAGTTGAGGAAAAT	0.552													47	180					0	0	0.870114	0	0	C	117266823	T	C	117266823	3	2	123	1	0	0	0	0	1	0	0	0	3249	1725	60	3	3233	3	CEP164	11	117266823	Missense_Mutation	SNP	T	TCGA-E1-5307-01A-01D-1893-08	44321486	117266823	17739693	63	5605											
ITPR2	3709	broad.mit.edu	37	chr12	26752943	26752943	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggagttaaaaacaaattcaGatgtttatgaagaagaactt	18	12	8	3	0	1	4	1	1	0	3	1	5	1	5	0	1	2	2	0	1	8	5			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr12:26752943G>C	uc001rhg.3	-	28	4195	c.3778C>G	c.(3778-3780)Ctg>Gtg	p.L1260V		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	1260					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AACAAATTCAGATGTTTATGA	0.328													9	38					0	0	0.361761	0	0	C	26752943	G	C	26752943	3	2	123	1	0	0	0	0	1	0	0	0	7921	933	33	5	4443	5	ITPR2	12	26752943	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08		26752943	107098952	64	5606											
MTUS2	23281	broad.mit.edu	37	chr13	29600162	29600162	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtggcttttattcctaatAatctgactgacagcaagccc	11	13	7	10	0	1	2	0	2	1	0	2	2	2	2	2	1	2	2	2	1	4	5			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr13:29600162A>G	uc001usl.4	+	0	1415	c.1357A>G	c.(1357-1359)Aat>Gat	p.N453D		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	443						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TATTCCTAATAATCTGACTGA	0.473													17	48					0	0	0.539581	0	0	G	29600162	A	G	29600162	3	3	123	1	0	0	0	0	1	0	0	0	9966	362	13	3	1359	3	MTUS2	13	29600162	Missense_Mutation	SNP	A	TCGA-E1-5307-01A-01D-1893-08		29600162	85569716	65	5607											
KTN1	3895	broad.mit.edu	37	chr14	56117347	56117347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaatgtccagcttgaaaagGctcaacaggtaaaaatccca	17	7	8	9	0	1	1	1	1	0	0	3	2	3	1	2	2	2	3	2	2	7	2	rs148189219		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr14:56117347G>A	uc001xcb.3	+	24	2859	c.2557G>A	c.(2557-2559)Gct>Act	p.A853T	KTN1_uc001xcc.3_Missense_Mutation_p.A853T|KTN1_uc001xcd.3_Intron|KTN1_uc001xce.3_Missense_Mutation_p.A853T|KTN1_uc010trb.2_Missense_Mutation_p.A853T|KTN1_uc001xcf.1_Intron|KTN1_uc010aoq.3_Missense_Mutation_p.A148T	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	Homo sapiens kinectin 1 (kinesin receptor) (KTN1), transcript variant 1, mRNA.	853					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GCTTGAAAAGGCTCAACAGGT	0.328			T	RET	papillary thryoid								5	80					0	0	0.184627	0	0	A	56117347	G	A	56117347	3	1	123	1	0	0	0	0	1	0	0	0	8585	1203	42	3	2647	3	KTN1	14	56117347	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08		56117347	51232193	66	5608											
TYRO3	7301	broad.mit.edu	37	chr15	41865634	41865634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctggccctggagagcctggCcgacaacctgtatactgtgc	7	8	13	13	1	0	1	0	0	0	1	0	3	0	1	4	3	4	2	4	3	3	2			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr15:41865634C>T	uc001zof.2	+	16	2350	c.2114C>T	c.(2113-2115)gCc>gTc	p.A705V		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	Homo sapiens TYRO3 protein tyrosine kinase (TYRO3), mRNA.	705	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GAGAGCCTGGCCGACAACCTG	0.582													4	172					0	0	0.150653	0	0	T	41865634	C	T	41865634	3	4	123	1	0	0	0	0	1	0	0	0	16811	739	26	3	2180	3	TYRO3	15	41865634	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08		41865634	60665758	67	5609											
TCF12	6938	broad.mit.edu	37	chr15	57543547	57543547	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctacttttgggttttaacaGgtaccagtcagtggccaaga	10	12	11	8	0	1	1	1	0	0	1	1	1	1	1	2	3	3	3	2	3	4	6			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr15:57543547G>A	uc002aec.3	+	14	1399	c.1115_splice	c.e14-1	p.G372_splice	TCF12_uc010ugm.1_Splice_Site_p.G424_splice|TCF12_uc010ugn.1_Splice_Site_p.G368_splice|TCF12_uc002aea.3_Splice_Site_p.G372_splice|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Splice_Site_p.G372_splice|TCF12_uc002aed.3_Splice_Site_p.G372_splice|TCF12_uc010ugo.2_Splice_Site_p.G136_splice|TCF12_uc002aee.3_Splice_Site_p.G202_splice|TCF12_uc010bft.3_Splice_Site_p.G202_splice|TCF12_uc010ugp.2_Splice_Site_p.S6_splice|TCF12_uc010ugq.2_Splice_Site_p.S6_splice|TCF12_uc010ugr.1_5'Flank	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	372					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GGTTTTAACAGGTACCAGTCA	0.423			T	TEC	extraskeletal myxoid chondrosarcoma								21	28					0	0	0.608945	0	0	A	57543547	G	A	57543547	5	1	123	1	0	0	0	0	0	0	1	0	15684	1014	35	3	1237	3	TCF12	15	57543547	Splice_Site	SNP	G	TCGA-E1-5307-01A-01D-1893-08	15677913	57543547	44987845	68	5610											
SLTM	79811	broad.mit.edu	37	chr15	59186365	59186365	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcatcattttctttcttcaTttctttcttagagggatcac	7	21	4	9	0	8	1	4	0	4	1	8	2	8	2	0	1	0	0	0	1	1	8			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr15:59186365T>C	uc002afp.3	-	10	1493	c.1405A>G	c.(1405-1407)Atg>Gtg	p.M469V	SLTM_uc002afn.3_Missense_Mutation_p.M38V|SLTM_uc002afo.3_Missense_Mutation_p.M451V|SLTM_uc002afq.3_Missense_Mutation_p.M38V|SLTM_uc010bgd.3_Missense_Mutation_p.M38V	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA.	469					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCTTTCTTCATTTCTTTCTTA	0.294													4	39					0	0	0.184627	0	0	C	59186365	T	C	59186365	3	2	123	1	0	0	0	0	1	0	0	0	14754	1493	52	3	1743	3	SLTM	15	59186365	Missense_Mutation	SNP	T	TCGA-E1-5307-01A-01D-1893-08	1642818	59186365	43345027	69	5611											
VPS13C	54832	broad.mit.edu	37	chr15	62254029	62254029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacacttgtggcagccctttCtgcagcctgggcagtggcag	6	9	13	13	0	1	0	0	0	1	0	1	0	1	0	2	3	3	4	2	3	0	2			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr15:62254029C>T	uc002agz.3	-	34	3758	c.3667G>A	c.(3667-3669)Gaa>Aaa	p.E1223K	VPS13C_uc002aha.3_Missense_Mutation_p.E1180K|VPS13C_uc002ahb.2_Missense_Mutation_p.E1223K|VPS13C_uc002ahc.2_Missense_Mutation_p.E1180K	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	1223					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GCAGCCCTTTCTGCAGCCTGG	0.448													18	76					0	0	0.520397	0	0	T	62254029	C	T	62254029	3	4	123	1	0	0	0	0	1	0	0	0	17188	922	32	3	7826	3	VPS13C	15	62254029	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	3067664	62254029	40277363	70	5612											
RGMA	56963	broad.mit.edu	37	chr15	93595609	93595609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtgcgggccgtccgccGcgtgcacagggcgtagctgc	4	5	18	14	6	0	0	0	0	0	0	1	0	1	0	3	3	4	4	3	3	1	1			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr15:93595609G>A	uc010urc.2	-	2	514	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	RGMA_uc002bsq.2_Missense_Mutation_p.R71W|RGMA_uc021svs.1_Missense_Mutation_p.R71W|RGMA_uc021svt.1_Missense_Mutation_p.R71W|RGMA_uc010boi.2_5'UTR|RGMA_uc002bsr.2_5'UTR|RGMA_uc021svu.1_Missense_Mutation_p.R71W|RGMA_uc002bss.2_Missense_Mutation_p.R87W	NM_001166283	NP_001159761	Q96B86	RGMA_HUMAN	Homo sapiens RGM domain family, member A (RGMA), transcript variant 1, mRNA.	87					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GCCGTCCGCCGCGTGCACAGG	0.677													4	29					0	0	0.184627	0	0	A	93595609	G	A	93595609	3	1	123	1	0	0	0	0	1	0	0	0	13280	1086	38	1	1101	1	RGMA	15	93595609	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	31341580	93595609	8935783	71	5613											
CCDC102A	92922	broad.mit.edu	37	chr16	57550306	57550306	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacccgccggttggcatgtgCcagctctgccaccttctcct	4	10	9	18	2	2	0	0	0	2	0	3	0	2	0	6	2	3	3	6	2	0	2			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr16:57550306C>T	uc002elw.3	-	6	1531	c.1318G>A	c.(1318-1320)Gca>Aca	p.A440T		NM_033212	NP_149989	Q96A19	C102A_HUMAN	Homo sapiens coiled-coil domain containing 102A (CCDC102A), mRNA.	440										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TTGGCATGTGCCAGCTCTGCC	0.632													3	39					0	0	0.115264	0	0	T	57550306	C	T	57550306	3	4	123	1	0	0	0	0	1	0	0	0	2736	739	26	3	346	3	CCDC102A	16	57550306	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08		57550306	32804447	72	5614											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			35	9					0	0	0.760397	0	0	A	7577121	G	A	7577121	3	1	123	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08		7577121	73618089	73	5615											
CDK12	51755	broad.mit.edu	37	chr17	37627827	37627827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaggttcctgcttccagtaCttcaactttgcccccttcta	6	15	5	15	0	3	0	2	0	1	0	5	0	5	0	4	1	4	3	4	1	3	7			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr17:37627827C>T	uc010cvv.3	+	1	2328	c.1742C>T	c.(1741-1743)aCt>aTt	p.T581I	CDK12_uc010wef.1_Missense_Mutation_p.T580I|CDK12_uc002hrw.4_Missense_Mutation_p.T581I	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	581					RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GCTTCCAGTACTTCAACTTTG	0.507			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			13	253					0	0	0.457914	0	0	T	37627827	C	T	37627827	3	4	123	1	0	0	0	0	1	0	0	0	3128	565	20	3	1748	3	CDK12	17	37627827	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	30050706	37627827	43567383	74	5616											
LRRC37A2	474170	broad.mit.edu	37	chr17	45127272	45127272	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctagagttacaaatatgaAggcttctaaaccaatttcac	15	11	7	8	0	2	2	1	1	1	1	2	2	2	2	1	2	2	3	1	2	8	6			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr17:45127272A>C	uc010wkj.1	+	1	824	c.470A>C	c.(469-471)aAg>aCg	p.K157T	ARL17_uc021tzb.1_Intron|DQ597730_uc010wkl.2_Non-coding_Transcript			A6NM11	L37A2_HUMAN	Homo sapiens cDNA FLJ42521 fis, clone BRACE3000973.	1293						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		ACAAATATGAAGGCTTCTAAA	0.428													9	125					0	0	0.361761	0	0	C	45127272	A	C	45127272	3	2	123	1	0	0	0	0	1	0	0	0	8992	87	3	5		5	LRRC37A2	17	45127272	Missense_Mutation	SNP	A	TCGA-E1-5307-01A-01D-1893-08	7499445	45127272	36067938	75	5617											
GH1	2688	broad.mit.edu	37	chr17	61995729	61995729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcctggtaggtgtcaaaggCcagctggtgcagacgatggg	8	8	16	9	1	1	1	1	0	0	1	2	2	2	1	2	5	2	3	2	5	2	1			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr17:61995729C>T	uc002jdj.3	-	1	210	c.148G>A	c.(148-150)Gcc>Acc	p.A50T	GH1_uc002jdi.3_Missense_Mutation_p.A50T|GH1_uc002jdk.3_Missense_Mutation_p.A50T|GH1_uc002jdl.3_Missense_Mutation_p.A50T|GH1_uc002jdm.3_Intron|GH1_uc002jdn.3_Missense_Mutation_p.A50T	NM_000515	NP_000506	P01241	SOMA_HUMAN	Homo sapiens growth hormone 1 (GH1), transcript variant 1, mRNA.	50					JAK-STAT cascade|glucose transport|growth hormone receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						GTGTCAAAGGCCAGCTGGTGC	0.582													63	255					0	0	0.870114	0	0	T	61995729	C	T	61995729	3	4	123	1	0	0	0	0	1	0	0	0	6367	739	26	3	521	3	GH1	17	61995729	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	16868457	61995729	19199481	76	5618											
TUBB6	84617	broad.mit.edu	37	chr18	12325927	12325927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catccaggagctgttcaagcGcatctccgagcagttctcag	9	9	10	13	2	3	0	2	0	2	0	6	2	4	1	2	1	3	5	2	1	1	2			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr18:12325927G>A	uc002kqw.3	+	3	1174	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	TUBB6_uc002kqv.3_Missense_Mutation_p.R308H|TUBB6_uc002kqy.3_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	Homo sapiens tubulin, beta 6 class V (TUBB6), mRNA.	380					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CTGTTCAAGCGCATCTCCGAG	0.617													5	272					0	0	0.184627	0	0	A	12325927	G	A	12325927	3	1	123	1	0	0	0	0	1	0	0	0	16757	1087	38	1	1153	1	TUBB6	18	12325927	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08		12325927	65751321	77	5619											
GALR1	2587	broad.mit.edu	37	chr18	74980584	74980584	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggttgtggtgtttggaatctCctggctgccgcaccacatca	6	12	12	11	1	2	0	1	0	1	0	3	1	2	1	3	4	1	4	3	4	1	2			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr18:74980584C>G	uc002lms.4	+	2	1273	c.776C>G	c.(775-777)tCc>tGc	p.S259C		NM_001480	NP_001471	P47211	GALR1_HUMAN	Homo sapiens galanin receptor 1 (GALR1), mRNA.	259					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		TTTGGAATCTCCTGGCTGCCG	0.567													40	172					0	0	0.834066	0	0	G	74980584	C	G	74980584	3	3	123	1	0	0	0	0	1	0	0	0	6227	855	30	5	786	5	GALR1	18	74980584	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	62654657	74980584	3096664	78	5620											
ABCA7	10347	broad.mit.edu	37	chr19	1044692	1044692	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggctacagctggcaggaCgcacacgctgatgtggggca	8	6	17	10	2	0	1	0	1	0	0	0	2	0	2	0	6	2	6	0	6	1	1			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr19:1044692C>T	uc002lqw.4	+	10	1395	c.1164C>T	c.(1162-1164)gaC>gaT	p.D388D	ABCA7_uc010dsb.1_Silent_p.D250D	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	388					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		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)		GCTGGCAGGACGCACACGCTG	0.667													10	46					0	0	0.361761	0	0	T	1044692	C	T	1044692	2	4	123	1	0	0	0	0	0	0	0	1	37	535	19	1		1	ABCA7	19	1044692	Silent	SNP	C	TCGA-E1-5307-01A-01D-1893-08		1044692	58084291	79	5621											
MUC16	94025	broad.mit.edu	37	chr19	9090831	9090831	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcttagtgtcatggaaaaAgggatagctgagttgggcat	11	12	14	4	0	1	1	1	1	0	0	1	3	1	3	0	3	2	4	0	3	4	4			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr19:9090831A>G	uc002mkp.3	-	0	1188	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	328	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522													3	116					0	0	0.115264	0	0	G	9090831	A	G	9090831	2	3	123	1	0	0	0	0	0	0	0	1	9973	59	3	4		4	MUC16	19	9090831	Silent	SNP	A	TCGA-E1-5307-01A-01D-1893-08	8046139	9090831	50038152	80	5622											
OR7A17	26333	broad.mit.edu	37	chr19	14992008	14992008	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacatgggggtgtggaggtGggagtctgagattgtggcca	7	10	20	4	0	1	1	0	1	1	1	1	4	1	3	1	6	1	1	1	6	1	2			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr19:14992008G>C	uc010xob.2	-	0	160	c.160C>G	c.(160-162)Cac>Gac	p.H54D		NM_030901	NP_112163	O14581	OR7AH_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 17 (OR7A17), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					GTGTGGAGGTGGGAGTCTGAG	0.502													6	111					0	0	0.217242	0	0	C	14992008	G	C	14992008	3	2	123	1	0	0	0	0	1	0	0	0	11215	1348	47	5	771	5	OR7A17	19	14992008	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	5901177	14992008	44136975	81	5623											
ZNF536	9745	broad.mit.edu	37	chr19	31038967	31038967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggggctgggccgctgtctgGgcaacccccaaatcaagacc	8	5	13	15	2	2	1	1	0	1	1	2	1	2	1	4	4	1	3	4	4	3	0			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr19:31038967G>A	uc002nsu.1	+	3	2579	c.2441G>A	c.(2440-2442)gGg>gAg	p.G814E	ZNF536_uc010edd.1_Missense_Mutation_p.G814E	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	814					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCGCTGTCTGGGCAACCCCCA	0.572													5	139					0	0	0.184627	0	0	A	31038967	G	A	31038967	3	1	123	1	0	0	0	0	1	0	0	0	17971	1232	43	3	2451	3	ZNF536	19	31038967	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	16046959	31038967	28090016	82	5624											
PRR19	284338	broad.mit.edu	37	chr19	42813898	42813898	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccattcgggatccacctgtGgtccctactgcctccaagct	6	10	9	16	1	0	0	0	0	0	0	4	1	3	1	6	2	3	1	6	2	2	2			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr19:42813898G>T	uc002oti.3	+	1	540	c.162G>T	c.(160-162)gtG>gtT	p.V54V	PRR19_uc002oth.1_Silent_p.V54V|PRR19_uc002otj.3_Silent_p.V54V	NM_199285	NP_954979	A6NJB7	PRR19_HUMAN	Homo sapiens proline rich 19 (PRR19), mRNA.	54										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				ATCCACCTGTGGTCCCTACTG	0.622													9	128					5.4927e-09	5.69064e-09	0.307466	1	0	T	42813898	G	T	42813898	2	4	123	1	0	0	0	0	0	0	0	1	12591	1335	47	5		5	PRR19	19	42813898	Silent	SNP	G	TCGA-E1-5307-01A-01D-1893-08	11774931	42813898	16315085	83	5625											
ZNF613	79898	broad.mit.edu	37	chr19	52447902	52447902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacaccagagaaaccacacaGgagagaaaccctatgaatgc	19	3	8	11	0	0	3	0	1	0	2	0	6	0	4	3	1	4	0	3	1	5	1			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr19:52447902G>A	uc002pxz.2	+	5	1230	c.766G>A	c.(766-768)Gga>Aga	p.G256R	ZNF613_uc002pya.2_Missense_Mutation_p.G220R	NM_001031721	NP_079116	Q6PF04	ZN613_HUMAN	Homo sapiens zinc finger protein 613 (ZNF613), transcript variant 1, mRNA.	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AAACCACACAGGAGAGAAACC	0.458													49	103					0	0	0.864702	0	0	A	52447902	G	A	52447902	3	1	123	1	0	0	0	0	1	0	0	0	18035	1001	35	3	780	3	ZNF613	19	52447902	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	9634004	52447902	6681081	84	5626											
BCAS1	8537	broad.mit.edu	37	chr20	52611567	52611567	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaccgtgtcttctgggtccTtttttgtttcagctttgtta	3	21	8	9	1	3	0	1	0	2	0	4	0	4	0	2	1	2	3	2	1	2	8			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr20:52611567T>C	uc002xws.2	-	5	1249	c.911A>G	c.(910-912)aAg>aGg	p.K304R	BCAS1_uc010zza.1_Missense_Mutation_p.K17R|BCAS1_uc010zzb.1_Missense_Mutation_p.K207R|BCAS1_uc010gim.2_Missense_Mutation_p.K207R|BCAS1_uc002xwt.2_Missense_Mutation_p.K304R|BCAS1_uc010gil.1_Missense_Mutation_p.K304R	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	304						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TTCTGGGTCCTTTTTTGTTTC	0.338													4	250					0	0	0.184627	0	0	C	52611567	T	C	52611567	3	2	123	1	0	0	0	0	1	0	0	0	1350	1609	56	4	871	4	BCAS1	20	52611567	Missense_Mutation	SNP	T	TCGA-E1-5307-01A-01D-1893-08		52611567	10413953	85	5627											
USP25	29761	broad.mit.edu	37	chr21	17250117	17250117	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcctgcattgcattaagaaAttaaatgagcaagccgcaga	15	10	8	8	1	0	3	0	1	0	2	1	3	1	3	2	0	4	4	2	0	5	4			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr21:17250117A>G	uc011aby.1	+	24	3229	c.3012A>G	c.(3010-3012)aaA>aaG	p.K1004K	USP25_uc002yjz.1_Silent_p.K966K|USP25_uc010gla.1_Silent_p.K329K|USP25_uc002yjy.1_Silent_p.K934K	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	Homo sapiens ubiquitin specific peptidase 25 (USP25), mRNA.	934					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.K934K(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GCATTAAGAAATTAAATGAGC	0.313													5	9					0	0	0.217242	0	0	G	17250117	A	G	17250117	2	3	123	1	0	0	0	0	0	0	0	1	17053	98	4	3		3	USP25	21	17250117	Silent	SNP	A	TCGA-E1-5307-01A-01D-1893-08		17250117	30879778	86	5628											
PFKL	5211	broad.mit.edu	37	chr21	45746603	45746603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccgtcctgcacaggcaccGcatgccacgggagcagtggt	7	5	13	16	3	0	0	0	0	0	0	1	1	1	1	5	3	3	4	5	3	0	0			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr21:45746603G>A	uc002zek.3	+	24	2743	c.2342G>A	c.(2341-2343)cGc>cAc	p.R781H	PFKL_uc002zel.3_Missense_Mutation_p.R734H|PFKL_uc002zem.3_Missense_Mutation_p.R321H|PFKL_uc002zen.3_Missense_Mutation_p.R321H			P17858	K6PL_HUMAN	Homo sapiens phosphofructokinase, liver (PFKL), transcript variant 1, non-coding RNA.	734					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CACAGGCACCGCATGCCACGG	0.667													3	8					0	0	0.184627	0	0	A	45746603	G	A	45746603	3	1	123	1	0	0	0	0	1	0	0	0	11764	1087	38	1	2287	1	PFKL	21	45746603	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	28496486	45746603	2383292	87	5629											
ITGB2	3689	broad.mit.edu	37	chr21	46309270	46309270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgaatggcactcgcataCgttgcagcggcaccggccac	8	6	12	15	4	0	1	0	1	0	0	1	1	0	1	3	3	3	5	3	3	2	2			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr21:46309270C>T	uc002zgd.2	-	11	1842	c.1798G>A	c.(1798-1800)Gta>Ata	p.V600I	ITGB2_uc002zgf.3_Missense_Mutation_p.V600I|ITGB2_uc011afl.1_Missense_Mutation_p.V522I|ITGB2_uc010gpw.2_Missense_Mutation_p.V543I|ITGB2_uc002zgg.2_Missense_Mutation_p.V600I	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	600	Cysteine-rich tandem repeats.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CACTCGCATACGTTGCAGCGG	0.657													3	37					0	0	0.150653	0	0	T	46309270	C	T	46309270	3	4	123	1	0	0	0	0	1	0	0	0	7894	536	19	1	527	1	ITGB2	21	46309270	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	562667	46309270	1820625	88	5630											
MICAL3	57553	broad.mit.edu	37	chr22	18301254	18301254	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcgccttccggctttggCaggcccagccttttggggat	3	11	14	13	2	0	0	0	0	0	0	2	1	1	1	4	6	1	3	4	6	0	4			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr22:18301254C>T	uc002zng.4	-	25	4526	c.4173G>A	c.(4171-4173)ctG>ctA	p.L1391L	MICAL3_uc011agl.2_Silent_p.L1307L|MICAL3_uc010gre.2_5'Flank	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1391	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CCGGCTTTGGCAGGCCCAGCC	0.632													5	281					0	0	0.217242	0	0	T	18301254	C	T	18301254	2	4	123	1	0	0	0	0	0	0	0	1	9571	697	25	3		3	MICAL3	22	18301254	Silent	SNP	C	TCGA-E1-5307-01A-01D-1893-08		18301254	33003312	89	5631											
TEF	7008	broad.mit.edu	37	chr22	41783620	41783620	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcttccacagcatccccAccatcctcctccactgccat	8	9	3	21	0	1	0	0	0	1	0	6	0	6	0	8	0	3	2	8	0	0	1			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr22:41783620A>G	uc011apa.2	+	1	524	c.438A>G	c.(436-438)ccA>ccG	p.P146P	TEF_uc003azx.3_Silent_p.P111P|TEF_uc021wqe.1_Intron|TEF_uc003azy.3_Silent_p.P141P	NM_001145398	NP_001138870	Q10587	TEF_HUMAN	Homo sapiens thyrotrophic embryonic factor (TEF), transcript variant 2, mRNA.	141					rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						CAGCATCCCCACCATCCTCCT	0.612													25	44					0	0	0.667858	0	0	G	41783620	A	G	41783620	2	3	123	1	0	0	0	0	0	0	0	1	15747	146	6	3		3	TEF	22	41783620	Silent	SNP	A	TCGA-E1-5307-01A-01D-1893-08	23482366	41783620	9520946	90	5632											
GDPD2	54857	broad.mit.edu	37	chrX	69652495	69652495	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccatgctgcttttgtggAccttcctcctccaaaggtga	7	12	8	14	0	0	1	0	1	0	0	3	2	3	2	6	2	2	2	6	2	1	3			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chrX:69652495A>T	uc011mpk.2	+	14	2036	c.1675A>T	c.(1675-1677)Acc>Tcc	p.T559S	GDPD2_uc010nky.2_3'UTR|GDPD2_uc004dyh.3_Missense_Mutation_p.T508S|GDPD2_uc011mpl.2_Missense_Mutation_p.T429S|GDPD2_uc011mpm.2_Missense_Mutation_p.T429S	NM_001171192	NP_001164663	Q9HCC8	GDPD2_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 2 (GDPD2), transcript variant 1, mRNA.	508					glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					GCTTTTGTGGACCTTCCTCCT	0.488													28	147					0	0	0.740014	0	0	T	69652495	A	T	69652495	3	4	123	1	0	0	0	0	1	0	0	0	6324	275	10	5	1729	5	GDPD2	23	69652495	Missense_Mutation	SNP	A	TCGA-E1-5307-01A-01D-1893-08		69652495	85618065	91	5633											
ATRX	546	broad.mit.edu	37	chrX	76939496	76939496	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttacagcatccatcgctcGaaactcggaatttaagtctt	11	13	7	10	3	1	0	0	0	1	0	5	2	2	1	1	1	3	3	1	1	4	5			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chrX:76939496G>A	uc004ecp.4	-	8	1484	c.1252C>T	c.(1252-1254)Cga>Tga	p.R418*	ATRX_uc004ecq.4_Nonsense_Mutation_p.R380*|ATRX_uc004eco.4_Nonsense_Mutation_p.R203*|ATRX_uc004ecr.2_Nonsense_Mutation_p.R379*|ATRX_uc010nlx.1_Nonsense_Mutation_p.R418*|ATRX_uc010nly.1_Nonsense_Mutation_p.R363*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	418					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCCATCGCTCGAAACTCGGAA	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						184	169					0	0	0.870114	0	0	A	76939496	G	A	76939496	4	1	123	1	0	0	0	0	0	1	0	0	1208	1066	37	2	6334	2	ATRX	23	76939496	Nonsense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	7287001	76939496	78331064	92	5634											
NAP1L3	4675	broad.mit.edu	37	chrX	92927163	92927163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcattgtgatctggttttgCctttattatatatgtcttca	8	21	6	6	0	4	1	2	1	2	0	4	1	4	1	1	1	1	1	1	1	4	9			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chrX:92927163C>T	uc004efq.3	-	0	1520	c.1141G>A	c.(1141-1143)Gca>Aca	p.A381T	FAM133A_uc022bzw.1_5'Flank|FAM133A_uc022bzu.1_5'Flank|FAM133A_uc004efr.2_5'Flank|FAM133A_uc022bzv.1_5'Flank	NM_004538	NP_004529	Q99457	NP1L3_HUMAN	Homo sapiens nucleosome assembly protein 1-like 3 (NAP1L3), mRNA.	381					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TCTGGTTTTGCCTTTATTATA	0.403													6	40					0	0	0.217242	0	0	T	92927163	C	T	92927163	3	4	123	1	0	0	0	0	1	0	0	0	10158	739	26	3	383	3	NAP1L3	23	92927163	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	15987667	92927163	62343397	93	5635											
ACSL4	2182	broad.mit.edu	37	chrX	108926516	108926516	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatgtctattacagctagtGagtcgaagtgtgtgacagag	11	11	14	5	1	1	3	0	2	1	1	2	5	1	4	0	1	2	1	0	1	4	3			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chrX:108926516G>C	uc004eoi.2	-	3	705	c.200C>G	c.(199-201)tCa>tGa	p.S67*	ACSL4_uc004eoj.2_Nonsense_Mutation_p.S26*|ACSL4_uc004eok.2_Nonsense_Mutation_p.S26*|ACSL4_uc010npp.1_Nonsense_Mutation_p.S67*	NM_022977	NP_004449	O60488	ACSL4_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 4 (ACSL4), transcript variant 2, mRNA.	67					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	TACAGCTAGTGAGTCGAAGTG	0.448													3	257					0	0	0.184627	0	0	C	108926516	G	C	108926516	4	2	123	1	0	0	0	0	0	1	0	0	179	1294	45	5	1991	5	ACSL4	23	108926516	Nonsense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	15999353	108926516	46344044	94	5636											
ODZ1	10178	broad.mit.edu	37	chrX	123785888	123785888	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaagcgaagttaagatcagGttccgaggggagtgctgtgt	10	10	16	5	2	1	2	1	1	0	1	2	5	2	3	1	3	2	3	1	3	3	2			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chrX:123785888G>A	uc010nqy.3	-	7	1519	c.1455C>T	c.(1453-1455)aaC>aaT	p.N485N	ODZ1_uc011muj.2_Silent_p.N484N|ODZ1_uc004euj.3_Silent_p.N485N	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	485					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TTAAGATCAGGTTCCGAGGGG	0.433													8	55					0	0	0.27861	0	0	A	123785888	G	A	123785888	2	1	123	1	0	0	0	0	0	0	0	1	10834	1252	44	3		3	ODZ1	23	123785888	Silent	SNP	G	TCGA-E1-5307-01A-01D-1893-08	14859372	123785888	31484672	95	5637											
BCL9	607	broad.mit.edu	37	chr1	147092354	147092354	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcagcaacagtggcttgcGgaatctcagagaaccaattg	13	7	12	9	1	1	1	1	0	1	1	2	3	1	2	1	3	4	3	1	3	4	2			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr1:147092354G>T	uc001epq.3	+	7	3133	c.2393G>T	c.(2392-2394)cGg>cTg	p.R798L	BCL9_uc010ozr.1_Missense_Mutation_p.R724L	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	798	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AGTGGCTTGCGGAATCTCAGA	0.587			T	"IGH@, IGL@"	B-ALL								4	52					5.18039e-06	6.01594e-06	0.27861	1	0	T	147092354	G	T	147092354	3	4	124	1	0	0	0	0	1	0	0	0	1381	1116	39	5	2411	5	BCL9	1	147092354	Missense_Mutation	SNP	G	TCGA-E1-5311-01A-01D-1468-08		147092354	102158267	1	5638											
ECM1	1893	broad.mit.edu	37	chr1	150482440	150482440	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccacccctctccaacaggAaaagctgctacctgcccaac	11	5	7	18	0	1	0	0	0	1	0	2	1	1	1	6	2	6	2	6	2	5	1			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr1:150482440A>G	uc001euv.3	+	3	546	c.347A>G	c.(346-348)gAa>gGa	p.E116G	ECM1_uc010pcf.2_Splice_Site_p.E11_splice|ECM1_uc010pce.2_Missense_Mutation_p.E18G|ECM1_uc001eus.3_Missense_Mutation_p.E89G|ECM1_uc001eut.3_Missense_Mutation_p.E89G|ECM1_uc009wlu.3_5'UTR	NM_001202858	NP_001189787	Q16610	ECM1_HUMAN	Homo sapiens extracellular matrix protein 1 (ECM1), transcript variant 3, mRNA.	89					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTCCAACAGGAAAAGCTGCTA	0.597													9	188					0	0	0.335167	0	0	G	150482440	A	G	150482440	3	3	124	1	0	0	0	0	1	0	0	0	4897	246	9	3	280	3	ECM1	1	150482440	Missense_Mutation	SNP	A	TCGA-E1-5311-01A-01D-1468-08	3390086	150482440	98768181	2	5639											
HEATR5B	54497	broad.mit.edu	37	chr2	37265041	37265041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagattgacatgtcgtggtGcaaacatgtgaagctgctga	12	11	12	6	1	0	4	0	3	0	1	1	4	0	4	0	1	4	3	0	1	3	2			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr2:37265041G>A	uc002rpp.1	-	20	3269	c.3173C>T	c.(3172-3174)gCa>gTa	p.A1058V		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	1058							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ATGTCGTGGTGCAAACATGTG	0.383													43	71					0	0	0.870114	0	0	A	37265041	G	A	37265041	3	1	124	1	0	0	0	0	1	0	0	0	7032	1319	46	3	3106	3	HEATR5B	2	37265041	Missense_Mutation	SNP	G	TCGA-E1-5311-01A-01D-1468-08		37265041	205934332	3	5640											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								68	89					0	0	0.870114	0	0	T	209113112	C	T	209113112	3	4	124	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-5311-01A-01D-1468-08	171848071	209113112	34086261	4	5641											
SMC4	10051	broad.mit.edu	37	chr3	160141575	160141575	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgactggtggtggaagcaaaGtaatgaaaggaagaatgggt	15	8	16	2	0	0	3	0	2	0	1	0	5	0	5	0	5	1	2	0	5	6	1			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr3:160141575G>C	uc003fdh.3	+	14	2385	c.2272G>C	c.(2272-2274)Gta>Cta	p.V758L	IFT80_uc003fda.3_Intron|SMC4_uc010hwc.1_Missense_Mutation_p.V522L|SMC4_uc003fdi.3_Missense_Mutation_p.V733L|SMC4_uc003fdj.3_Missense_Mutation_p.V758L|SMC4_uc010hwd.3_Missense_Mutation_p.V758L|SMC4_uc003fdl.3_Missense_Mutation_p.V461L	NM_001002800	NP_005487	Q9NTJ3	SMC4_HUMAN	Homo sapiens structural maintenance of chromosomes 4 (SMC4), transcript variant 2, mRNA.	758	Flexible hinge.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGGAAGCAAAGTAATGAAAGG	0.383													30	133					0	0	0.804634	0	0	C	160141575	G	C	160141575	3	2	124	1	0	0	0	0	1	0	0	0	14785	1029	36	5	2326	5	SMC4	3	160141575	Missense_Mutation	SNP	G	TCGA-E1-5311-01A-01D-1468-08		160141575	37880855	5	5642											
FRAS1	80144	broad.mit.edu	37	chr4	79420950	79420950	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatgccattgcgattctgaAcatcaaggtgatccgcagag	12	9	11	9	2	2	4	1	2	1	2	3	5	3	4	2	1	3	1	2	1	2	2			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr4:79420950A>G	uc003hlb.2	+	60	9631	c.9191A>G	c.(9190-9192)aAc>aGc	p.N3064S	FRAS1_uc003hlc.1_Missense_Mutation_p.N66S	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3059	Calx-beta 5.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCGATTCTGAACATCAAGGTG	0.532													106	142					0	0	0.870114	0	0	G	79420950	A	G	79420950	3	3	124	1	0	0	0	0	1	0	0	0	6042	43	2	3	9508	3	FRAS1	4	79420950	Missense_Mutation	SNP	A	TCGA-E1-5311-01A-01D-1468-08		79420950	111733326	6	5643											
IL15	3600	broad.mit.edu	37	chr4	142651106	142651106	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagtagaaaatctgatcaTcctagcaaacaacagtttgt	16	11	6	8	0	2	2	1	1	1	1	3	2	3	2	1	0	4	3	1	0	7	4			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr4:142651106T>C	uc003iis.3	+	6	721	c.347T>C	c.(346-348)aTc>aCc	p.I116T	IL15_uc010iol.3_Missense_Mutation_p.I89T|IL15_uc003iit.3_Missense_Mutation_p.I116T	NM_000585	NP_000576	P40933	IL15_HUMAN	Homo sapiens interleukin 15 (IL15), transcript variant 3, mRNA.	116					cell-cell signaling|immune response|positive regulation of interleukin-17 production	Golgi apparatus|endosome|extracellular space|integral to plasma membrane|membrane fraction|nucleus	cytokine activity|cytokine receptor binding|signal transducer activity			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_hematologic(180;0.158)					AATCTGATCATCCTAGCAAAC	0.388													62	166					0	0	0.870114	0	0	C	142651106	T	C	142651106	3	2	124	1	0	0	0	0	1	0	0	0	7631	1435	50	3	365	3	IL15	4	142651106	Missense_Mutation	SNP	T	TCGA-E1-5311-01A-01D-1468-08	63230156	142651106	48503170	7	5644											
PCDHGC5	56097	broad.mit.edu	37	chr5	140724038	140724038	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataaaaattggtgaactaacGgttcctggaacccgatttcc	13	11	8	9	2	0	1	0	1	0	0	2	3	2	2	3	3	3	1	3	3	6	5			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr5:140724038G>A	uc003ljm.2	+	0	438	c.438G>A	c.(436-438)acG>acA	p.T146T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.T146T	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	146	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T146T(1)|p.S145L(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAACTAACGGTTCCTGGAA	0.353													78	68					0	0	0.870114	0	0	A	140724038	G	A	140724038	2	1	124	1	0	0	0	0	0	0	0	1	11571	1103	39	2		2	PCDHGC5	5	140724038	Silent	SNP	G	TCGA-E1-5311-01A-01D-1468-08		140724038	40191222	8	5645											
KIAA1324L	222223	broad.mit.edu	37	chr7	86526826	86526826	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagtttatcccttacctgaAatcctctcttgcaggctccc	8	13	6	14	0	1	2	0	1	1	1	5	2	4	2	4	1	2	3	4	1	3	4			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr7:86526826A>C	uc011kha.2	-	18	2866	c.2681T>G	c.(2680-2682)tTt>tGt	p.F894C	KIAA1324L_uc003uie.3_Missense_Mutation_p.F727C|KIAA1324L_uc011kgz.2_Missense_Mutation_p.F780C|KIAA1324L_uc003uif.2_Missense_Mutation_p.F646C	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	894						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CCTTACCTGAAATCCTCTCTT	0.468													69	129					0	0	0.870114	0	0	C	86526826	A	C	86526826	3	2	124	1	0	0	0	0	1	0	0	0	8224	14	1	5	424	5	KIAA1324L	7	86526826	Missense_Mutation	SNP	A	TCGA-E1-5311-01A-01D-1468-08		86526826	72611837	9	5646											
KCNU1	157855	broad.mit.edu	37	chr8	36766859	36766859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaagtcaaagtataagtttCggaaccatattgtagcatgt	14	12	9	6	1	1	0	1	0	0	0	2	1	1	1	1	1	2	5	1	1	7	6			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr8:36766859C>T	uc010lvw.3	+	20	2224	c.2137C>T	c.(2137-2139)Cgg>Tgg	p.R713W	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	713	Segment S9.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.R713W(3)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GTATAAGTTTCGGAACCATAT	0.468													238	352					0	0	0.870114	0	0	T	36766859	C	T	36766859	3	4	124	1	0	0	0	0	1	0	0	0	8093	875	31	2	2219	2	KCNU1	8	36766859	Missense_Mutation	SNP	C	TCGA-E1-5311-01A-01D-1468-08		36766859	109597163	10	5647											
NOTCH1	4851	broad.mit.edu	37	chr9	139412204	139412204	+	Splice_Site	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggccccggccgacgcacCgggcatgcagatgcactgga	7	4	14	16	4	0	1	0	0	0	1	0	3	0	2	5	4	2	4	5	4	0	0			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr9:139412204C>G	uc004chz.3	-	8	1441	c.1441_splice	c.e8+1	p.G481_splice		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	481	EGF-like 12; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.G481S(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCCGACGCACCGGGCATGCAG	0.667			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			43	74					0	0	0.853193	0	0	G	139412204	C	G	139412204	5	3	124	1	0	0	0	0	0	0	1	0	10547	666	23	5	6334	5	NOTCH1	9	139412204	Splice_Site	SNP	C	TCGA-E1-5311-01A-01D-1468-08		139412204	1801227	11	5648											
PPFIA1	8500	broad.mit.edu	37	chr11	70208264	70208264	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccaatgggacgggccaacGgttgtggtctggctagaggt	7	8	17	9	2	1	1	0	0	1	1	1	2	1	2	2	6	1	2	2	6	3	2			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr11:70208264G>A	uc001opo.3	+	19	2861	c.2646G>A	c.(2644-2646)acG>acA	p.T882T	PPFIA1_uc001opn.2_Silent_p.T882T|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opr.3_5'UTR	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	882	SAM 1.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			ACGGGCCAACGGTTGTGGTCT	0.448													59	94					0	0	0.870114	0	0	A	70208264	G	A	70208264	2	1	124	1	0	0	0	0	0	0	0	1	12309	1103	39	2		2	PPFIA1	11	70208264	Silent	SNP	G	TCGA-E1-5311-01A-01D-1468-08		70208264	64798252	12	5649											
PRDM10	56980	broad.mit.edu	37	chr11	129795084	129795084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcaagcatttaaaaggcCggaaggacttccgaataaac	16	7	9	9	2	0	0	0	0	0	0	1	3	1	2	2	3	3	2	2	3	7	4			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr11:129795084C>T	uc001qfm.3	-	12	1815	c.1583G>A	c.(1582-1584)cGg>cAg	p.R528Q	PRDM10_uc001qfj.3_Missense_Mutation_p.R442Q|PRDM10_uc001qfk.3_Missense_Mutation_p.R438Q|PRDM10_uc001qfl.3_Missense_Mutation_p.R442Q|PRDM10_uc010sbx.2_Missense_Mutation_p.R438Q|PRDM10_uc001qfn.3_Missense_Mutation_p.R524Q	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TTTAAAAGGCCGGAAGGACTT	0.483													6	248					0	0	0.27861	0	0	T	129795084	C	T	129795084	3	4	124	1	0	0	0	0	1	0	0	0	12451	652	23	2	1939	2	PRDM10	11	129795084	Missense_Mutation	SNP	C	TCGA-E1-5311-01A-01D-1468-08	59586820	129795084	5211432	13	5650											
AGAP2	116986	broad.mit.edu	37	chr12	58129157	58129157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactgggttacctaccaggcGcagttcaggaatggagcggc	9	7	15	10	2	1	0	1	0	0	0	1	3	1	2	2	5	3	3	2	5	3	3			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr12:58129157G>A	uc001spq.3	-	1	1222	c.1222C>T	c.(1222-1224)Cgc>Tgc	p.R408C	AGAP2_uc001spp.3_Missense_Mutation_p.R408C|AGAP2_uc001spr.3_Missense_Mutation_p.R72C	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.	408	G domain.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	p.R72S(1)|p.R408S(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CCTACCAGGCGCAGTTCAGGA	0.567													3	38					0	0	0.150653	0	0	A	58129157	G	A	58129157	3	1	124	1	0	0	0	0	1	0	0	0	368	1087	38	1	2428	1	AGAP2	12	58129157	Missense_Mutation	SNP	G	TCGA-E1-5311-01A-01D-1468-08		58129157	75722738	14	5651											
PKD1	5310	broad.mit.edu	37	chr16	2155892	2155892	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcacggtgaccagggccaAcgagtactcgatgacgtgct	10	6	13	12	4	0	2	0	2	0	0	1	4	0	2	2	2	4	3	2	2	2	1	rs149467954	by1000genomes	TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr16:2155892A>G	uc002cos.1	-	19	8046	c.7837T>C	c.(7837-7839)Ttg>Ctg	p.L2613L	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.L2613L|PKD1_uc010bse.1_5'Flank	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	2613	REJ.		Missing (in ADPKD1; could be a polymorphism).		calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	p.L2613L(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACCAGGGCCAACGAGTACTCG	0.657													4	76					0	0	0.150653	0	0	G	2155892	A	G	2155892	2	3	124	1	0	0	0	0	0	0	0	1	11963	40	2	3		3	PKD1	16	2155892	Silent	SNP	A	TCGA-E1-5311-01A-01D-1468-08		2155892	88198861	15	5652											
ANKRD11	29123	broad.mit.edu	37	chr16	89350191	89350191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttttcggtctgctctttcCtcttctcagagtttttatcc	3	20	6	12	1	4	1	1	0	4	1	8	1	6	1	2	1	1	3	2	1	1	7			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr16:89350191C>T	uc002fmx.1	-	8	3220	c.2759G>A	c.(2758-2760)aGg>aAg	p.R920K	ANKRD11_uc002fmy.1_Missense_Mutation_p.R920K|ANKRD11_uc002fnc.1_Missense_Mutation_p.R920K|ANKRD11_uc002fnb.1_Missense_Mutation_p.R877K	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	920	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTGCTCTTTCCTCTTCTCAGA	0.547													104	204					0	0	0.870114	0	0	T	89350191	C	T	89350191	3	4	124	1	0	0	0	0	1	0	0	0	639	681	24	3	5252	3	ANKRD11	16	89350191	Missense_Mutation	SNP	C	TCGA-E1-5311-01A-01D-1468-08	87194299	89350191	1004562	16	5653											
USP6	9098	broad.mit.edu	37	chr17	5074028	5074028	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccaaccagagctggtcActcctcaggaccatgaggta	11	6	11	13	0	2	2	2	1	0	1	3	3	3	3	4	3	3	3	4	3	2	1			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr17:5074028A>T	uc002gau.1	+	35	6002	c.3772A>T	c.(3772-3774)Act>Tct	p.T1258S	USP6_uc002gav.1_Missense_Mutation_p.T1258S|USP6_uc010ckz.1_Missense_Mutation_p.T941S	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	1258					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGAGCTGGTCACTCCTCAGGA	0.572			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								5	141					0	0	0.217242	0	0	T	5074028	A	T	5074028	3	4	124	1	0	0	0	0	1	0	0	0	17083	159	6	5	3878	5	USP6	17	5074028	Missense_Mutation	SNP	A	TCGA-E1-5311-01A-01D-1468-08		5074028	76121182	17	5654											
SSH2	85464	broad.mit.edu	37	chr17	27994187	27994187	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaaatccttctgcatcatGatctcccttaatttggtttt	8	18	4	11	0	3	1	1	1	2	0	6	1	5	1	3	1	1	2	3	1	2	5			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr17:27994187G>A	uc002heo.1	-	8	783	c.783C>T	c.(781-783)atC>atT	p.I261I	SSH2_uc010wbh.1_Silent_p.I288I|SSH2_uc002hep.1_Silent_p.I261I	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA.	261					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCTGCATCATGATCTCCCTTA	0.383													51	100					0	0	0.870114	0	0	A	27994187	G	A	27994187	2	1	124	1	0	0	0	0	0	0	0	1	15184	1280	45	3		3	SSH2	17	27994187	Silent	SNP	G	TCGA-E1-5311-01A-01D-1468-08	22920159	27994187	53201023	18	5655											
PSMD8	5714	broad.mit.edu	37	chr19	38865398	38865398	+	Frame_Shift_Del	DEL	A	A	-																															tttgtaggcggcgctgccgtAaatcaggcggtctgcttgcc																										TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr19:38865398delA	uc002oii.4	+	0	209	c.157delA	c.(157-159)aaafs	p.K53fs	PSMD8_uc010efx.1_5'Flank	NM_002812	NP_002803	P48556	PSMD8_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 8 (PSMD8), mRNA.	53					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome regulatory particle	protein binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(1)	6	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCGCTGCCGTAAATCAGGCGG	0.736													2	4	---	---	---	---						-	38865398	A	-	38865398	7	5	124	1	0	1	0	1	0	0	0	0	12704	363	13	0	159	0	PSMD8	19	38865398	Frame_Shift_Del	DEL	A	TCGA-E1-5311-01A-01D-1468-08		38865398	20263585	19	5656											
CIC	23152	broad.mit.edu	37	chr19	42791718	42791718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagaaggaccacatccggCggcccatgaatgccttcatg	10	6	13	12	2	1	2	1	1	0	1	2	4	2	3	4	4	1	0	4	4	2	1			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr19:42791718C>T	uc002otf.1	+	4	644	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R202W(2)|p.R201W(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCACATCCGGCGGCCCATGAA	0.622			"Mis, F, S"		oligodendroglioma								51	28					0	0	0.870114	0	0	T	42791718	C	T	42791718	3	4	124	1	0	0	0	0	1	0	0	0	3424	759	27	1	622	1	CIC	19	42791718	Missense_Mutation	SNP	C	TCGA-E1-5311-01A-01D-1468-08	3926320	42791718	16337265	20	5657											
PSG4	5672	broad.mit.edu	37	chr19	43702179	43702179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggtgactgggtcactgcGgctggcactcactgggttcc	5	9	15	12	1	2	1	2	1	0	0	3	1	3	1	1	5	1	3	1	5	0	1			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr19:43702179G>A	uc002ovy.3	-	2	781	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	PSG4_uc010xwk.1_Missense_Mutation_p.R66C|PSG4_uc002ovz.3_Missense_Mutation_p.R227C|PSG4_uc002owb.3_Intron	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	227	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGGTCACTGCGGCTGGCACTC	0.522													9	260					0	0	0.411799	0	0	A	43702179	G	A	43702179	3	1	124	1	0	0	0	0	1	0	0	0	12657	1116	39	2	596	2	PSG4	19	43702179	Missense_Mutation	SNP	G	TCGA-E1-5311-01A-01D-1468-08	910461	43702179	15426804	21	5658											
PLCB1	23236	broad.mit.edu	37	chr20	8862304	8862304	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcaagaataccaagacaaAttcaaaagactgcccctcga	18	5	7	11	1	1	3	1	0	0	3	2	5	1	3	3	0	3	1	3	0	7	2			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr20:8862304A>C	uc002wnb.3	+	31	3462	c.3459A>C	c.(3457-3459)aaA>aaC	p.K1153N	PLCB1_uc002wna.3_3'UTR	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	1153					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACCAAGACAAATTCAAAAGAC	0.468													159	228					0	0	0.870114	0	0	C	8862304	A	C	8862304	3	2	124	1	0	0	0	0	1	0	0	0	12027	98	4	5	3688	5	PLCB1	20	8862304	Missense_Mutation	SNP	A	TCGA-E1-5311-01A-01D-1468-08		8862304	54163216	22	5659											
TCFL5	10732	broad.mit.edu	37	chr20	61488943	61488943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacatttgtgtccaactgacGcattctactccgattcctct	8	15	5	13	2	2	1	0	1	2	0	5	2	5	1	3	0	3	1	3	0	3	5			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr20:61488943G>A	uc002ydp.3	-	3	1135	c.1042C>T	c.(1042-1044)Cgt>Tgt	p.R348C	TCFL5_uc002ydo.3_Missense_Mutation_p.R121C|TCFL5_uc002ydq.3_Missense_Mutation_p.R347C	NM_006602	NP_006593	Q9UL49	TCFL5_HUMAN	Homo sapiens transcription factor-like 5 (basic helix-loop-helix) (TCFL5), mRNA.	348	R3 epitope (recognized by Chagas's antibodies).				cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity	p.R348C(2)		breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					TCCAACTGACGCATTCTACTC	0.463													84	134					0	0	0.870114	0	0	A	61488943	G	A	61488943	3	1	124	1	0	0	0	0	1	0	0	0	15696	1087	38	1	472	1	TCFL5	20	61488943	Missense_Mutation	SNP	G	TCGA-E1-5311-01A-01D-1468-08	52626639	61488943	1536577	23	5660											
TUBGCP6	85378	broad.mit.edu	37	chr22	50658942	50658942	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgggctcagcttctggtgaGagagcccccagcaccatgtg	7	9	13	12	0	2	2	1	1	1	1	2	3	2	2	3	2	3	3	3	2	0	2	rs151156085	byFrequency	TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr22:50658942G>C	uc003bkb.1	-	15	4358	c.3846C>G	c.(3844-3846)ctC>ctG	p.L1282L	TUBGCP6_uc003bka.1_Silent_p.L369L|TUBGCP6_uc010har.1_Silent_p.L1274L|TUBGCP6_uc010has.1_Non-coding_Transcript	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	1282					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTTCTGGTGAGAGAGCCCCCA	0.657													3	46					0	0	0.115264	0	0	C	50658942	G	C	50658942	2	2	124	1	0	0	0	0	0	0	0	1	16767	929	33	5		5	TUBGCP6	22	50658942	Silent	SNP	G	TCGA-E1-5311-01A-01D-1468-08		50658942	645624	24	5661											
HRNR	388697	broad.mit.edu	37	chr1	152193228	152193228	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcggccgtggcccaaagActgacgggaaccagacccat	10	6	12	13	3	0	3	0	1	0	2	1	4	0	4	4	3	1	0	4	3	2	1			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr1:152193228A>G	uc001ezt.1	-	2	953	c.877T>C	c.(877-879)Tct>Cct	p.S293P		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	293					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCCCAAAGACTGACGGGAA	0.607													13	301					0	0	1	0	0	G	152193228	A	G	152193228	3	3	125	1	0	0	0	0	1	0	0	0	7359	275	10	3	7679	3	HRNR	1	152193228	Missense_Mutation	SNP	A	TCGA-E1-5318-01A-01D-1468-08		152193228	97057393	1	5662											
SELE	6401	broad.mit.edu	37	chr1	169698637	169698637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacaactctacctttacacGttggcttctcgttgtcccaa	9	13	6	13	2	2	0	0	0	2	0	4	1	3	0	2	1	4	3	2	1	5	6			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr1:169698637G>A	uc001ggm.4	-	5	1050	c.893C>T	c.(892-894)aCg>aTg	p.T298M	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	298	Sushi 2.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					ACCTTTACACGTTGGCTTCTC	0.443													80	93					0	0	1	0	0	A	169698637	G	A	169698637	3	1	125	1	0	0	0	0	1	0	0	0	14013	1145	40	1	971	1	SELE	1	169698637	Missense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08	17505409	169698637	79551984	2	5663											
INO80B	83444	broad.mit.edu	37	chr2	74684817	74684817	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccacggcagtgtctcagcgGccatccccctcaggcccgcc	5	5	10	21	3	2	0	2	0	1	0	4	0	3	0	6	3	1	1	6	3	0	0			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr2:74684817G>A	uc010yrs.2	+	3	1152	c.951G>A	c.(949-951)cgG>cgA	p.R317R	INO80B_uc002slg.3_Silent_p.R299R|INO80B_uc010yrr.2_Silent_p.R271R|INO80B_uc002sli.2_Non-coding_Transcript|WBP1_uc002slj.2_5'Flank|WBP1_uc002sll.2_5'Flank	NM_031288	NP_112578	Q9C086	IN80B_HUMAN	Homo sapiens INO80 complex subunit B (INO80B), mRNA.	299					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						TGTCTCAGCGGCCATCCCCCT	0.716													3	36					0	0	1	0	0	A	74684817	G	A	74684817	2	1	125	1	0	0	0	0	0	0	0	1	7747	1190	42	3		3	INO80B	2	74684817	Silent	SNP	G	TCGA-E1-5318-01A-01D-1468-08		74684817	168514556	3	5664											
IL1RL2	8808	broad.mit.edu	37	chr2	102805614	102805614	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttttaattgtacattccctcCcataacatctggggaagtca	11	14	6	10	0	2	0	1	0	1	0	4	1	4	1	2	2	2	1	2	2	4	6			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr2:102805614C>A	uc002tbs.3	+	2	263	c.137C>A	c.(136-138)cCc>cAc	p.P46H	IL1RL2_uc002tbt.3_Intron	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	46	Ig-like C2-type 1.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						ACATTCCCTCCCATAACATCT	0.378													9	144					0.00621372	0.00676199	1	1	0	A	102805614	C	A	102805614	3	1	125	1	0	0	0	0	1	0	0	0	7664	623	22	5	143	5	IL1RL2	2	102805614	Missense_Mutation	SNP	C	TCGA-E1-5318-01A-01D-1468-08	28120797	102805614	140393759	4	5665											
NEB	4703	broad.mit.edu	37	chr2	152521900	152521900	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgttccattgtgtccaTggcgtaagtgaacttcagct	7	14	10	10	1	1	1	1	1	0	0	3	1	3	1	3	1	3	3	3	1	2	4			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr2:152521900T>A	uc021vrb.1	-	39	5214	c.5185A>T	c.(5185-5187)Atg>Ttg	p.M1729L	NEB_uc002txu.3_Missense_Mutation_p.M1729L|NEB_uc021vrc.1_Missense_Mutation_p.M1729L|NEB_uc010fnx.3_Missense_Mutation_p.M1729L|NEB_uc021vrd.1_Missense_Mutation_p.M1729L	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1729					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATTGTGTCCATGGCGTAAGTG	0.507													30	38					0	0	1	0	0	A	152521900	T	A	152521900	3	1	125	1	0	0	0	0	1	0	0	0	10302	1464	51	5	21065	5	NEB	2	152521900	Missense_Mutation	SNP	T	TCGA-E1-5318-01A-01D-1468-08	49716286	152521900	90677473	5	5666											
KLHL30	377007	broad.mit.edu	37	chr2	239051515	239051515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggcgctggaggaggaggagGcaggtgaggagcccaccccc	9	2	19	11	1	0	1	0	1	0	0	0	6	0	6	3	8	1	2	3	8	0	0			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr2:239051515G>A	uc002vxr.2	+	2	957	c.850G>A	c.(850-852)Gca>Aca	p.A284T		NM_198582	NP_940984	Q0D2K2	KLH30_HUMAN	Homo sapiens kelch-like 30 (Drosophila) (KLHL30), mRNA.	284										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGAGGAGGAGGCAGGTGAGGA	0.672													4	15					0	0	1	0	0	A	239051515	G	A	239051515	3	1	125	1	0	0	0	0	1	0	0	0	8384	1203	42	3	856	3	KLHL30	2	239051515	Missense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08	86529615	239051515	4147858	6	5667											
SI	6476	broad.mit.edu	37	chr3	164776970	164776970	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattaccaagatgatgacatAtttctgtccatggtcatgca	12	14	7	8	0	2	3	1	2	1	1	3	3	3	3	2	1	2	1	2	1	4	4	rs148511215	by1000genomes	TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr3:164776970A>G	uc003fei.3	-	10	1327	c.1264T>C	c.(1264-1266)Tat>Cat	p.Y422H		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	422	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATGATGACATATTTCTGTCCA	0.323										HNSCC(35;0.089)			13	94					0	0	1	0	0	G	164776970	A	G	164776970	3	3	125	1	0	0	0	0	1	0	0	0	14297	449	16	3	4371	3	SI	3	164776970	Missense_Mutation	SNP	A	TCGA-E1-5318-01A-01D-1468-08		164776970	33245460	7	5668											
ATP13A3	79572	broad.mit.edu	37	chr3	194170983	194170983	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatctcctggcacaaggtcGgtagaaaagatttcttctat	12	12	8	9	1	3	2	0	0	3	2	5	2	3	2	1	3	0	2	1	3	5	4			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr3:194170983G>A	uc003fty.4	-	9	1263	c.861C>T	c.(859-861)acC>acT	p.T287T	ATP13A3_uc003ftz.1_5'UTR	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	287					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GCACAAGGTCGGTAGAAAAGA	0.343													4	83					0	0	1	0	0	A	194170983	G	A	194170983	2	1	125	1	0	0	0	0	0	0	0	1	1125	1103	39	2		2	ATP13A3	3	194170983	Silent	SNP	G	TCGA-E1-5318-01A-01D-1468-08	29394013	194170983	3851447	8	5669											
MUC4	4585	broad.mit.edu	37	chr3	195505849	195505849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtggcgtgacctgtggatGctgaggaagtgtcggtgaca	7	9	19	6	2	0	3	0	3	0	0	1	5	0	5	1	5	1	1	1	5	1	0			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr3:195505849G>A	uc021xjp.1	-	1	12758	c.12602C>T	c.(12601-12603)gCa>gTa	p.A4201V	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	964					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATGCTGAGGAAGT	0.592													5	5					0	0	1	0	0	A	195505849	G	A	195505849	3	1	125	1	0	0	0	0	1	0	0	0	9978	1319	46	3		3	MUC4	3	195505849	Missense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08	1334866	195505849	2516581	9	5670											
FSTL5	56884	broad.mit.edu	37	chr4	162577528	162577528	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agaataatattgttccttttCcagataatgggaggtctcag	12	14	9	6	0	1	2	1	0	1	2	4	3	3	3	2	2	0	1	2	2	4	7			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr4:162577528C>T	uc003iqh.3	-	6	1282	c.846G>A	c.(844-846)tgG>tgA	p.W282*	FSTL5_uc003iqi.3_Nonsense_Mutation_p.W281*|FSTL5_uc010iqv.3_Nonsense_Mutation_p.W281*	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	282	Ig-like 1.					extracellular region	calcium ion binding	p.W282*(2)|p.W282R(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TGTTCCTTTTCCAGATAATGG	0.353													18	97					0	0	1	0	0	T	162577528	C	T	162577528	4	4	125	1	0	0	0	0	0	1	0	0	6080	856	30	3	1737	3	FSTL5	4	162577528	Nonsense_Mutation	SNP	C	TCGA-E1-5318-01A-01D-1468-08		162577528	28576748	10	5671											
NAIP	4671	broad.mit.edu	37	chr5	70308387	70308387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccacaatctggatgaaacCtcttgtggtcttctatgggg	9	12	10	10	0	4	1	0	1	4	0	4	2	4	2	2	4	1	0	2	4	3	3			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr5:70308387C>T	uc003kar.1	-	3	1074	c.356G>A	c.(355-357)aGg>aAg	p.R119K	NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Missense_Mutation_p.R119K|NAIP_uc003kas.1_Intron	NM_004536	NP_004527	Q13075	BIRC1_HUMAN	Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 1, mRNA.	119					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TGGATGAAACCTCTTGTGGTC	0.473													63	97					0	0	1	0	0	T	70308387	C	T	70308387	3	4	125	1	0	0	0	0	1	0	0	0	10147	681	24	3	3911	3	NAIP	5	70308387	Missense_Mutation	SNP	C	TCGA-E1-5318-01A-01D-1468-08		70308387	110606873	11	5672											
TTK	7272	broad.mit.edu	37	chr6	80746270	80746270	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctaattgattttgggattgCaaaccaaatgcaaccagata	15	11	8	7	0	0	2	0	1	0	1	0	3	0	3	2	1	4	3	2	1	5	6			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr6:80746270C>A	uc003pjc.3	+	16	2114	c.2003C>A	c.(2002-2004)gCa>gAa	p.A668E	TTK_uc003pjb.4_Missense_Mutation_p.A667E	NM_003318	NP_003309	P33981	TTK_HUMAN	Homo sapiens TTK protein kinase (TTK), transcript variant 1, mRNA.	668	Protein kinase.				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TTTGGGATTGCAAACCAAATG	0.338													7	186					0.00198382	0.00219108	1	1	0	A	80746270	C	A	80746270	3	1	125	1	0	0	0	0	1	0	0	0	16717	710	25	5	2065	5	TTK	6	80746270	Missense_Mutation	SNP	C	TCGA-E1-5318-01A-01D-1468-08		80746270	90368797	12	5673											
PSD3	23362	broad.mit.edu	37	chr8	18725224	18725224	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggtgcctttcgtgtagaTggagtcgctggcatcattca	6	12	14	9	3	2	1	2	0	0	1	4	2	2	2	1	4	1	3	1	4	1	3	rs62636654		TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr8:18725224T>C	uc003wza.3	-	3	1697	c.1594A>G	c.(1594-1596)Atc>Gtc	p.I532V		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	532					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TTCGTGTAGATGGAGTCGCTG	0.507													71	103					0	0	1	0	0	C	18725224	T	C	18725224	3	2	125	1	0	0	0	0	1	0	0	0	12648	1464	51	3	1637	3	PSD3	8	18725224	Missense_Mutation	SNP	T	TCGA-E1-5318-01A-01D-1468-08		18725224	127638798	13	5674											
KCNU1	157855	broad.mit.edu	37	chr8	36671795	36671795	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcatattttgagtcaatttAcctggtcatggcaacaacgt	12	14	7	8	1	3	1	3	1	0	0	3	1	3	1	1	2	3	1	1	2	5	5			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr8:36671795A>G	uc010lvw.3	+	7	890	c.803A>G	c.(802-804)tAc>tGc	p.Y268C	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	268						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GAGTCAATTTACCTGGTCATG	0.433													8	61					0	0	1	0	0	G	36671795	A	G	36671795	3	3	125	1	0	0	0	0	1	0	0	0	8093	391	14	3	833	3	KCNU1	8	36671795	Missense_Mutation	SNP	A	TCGA-E1-5318-01A-01D-1468-08	17946571	36671795	109692227	14	5675											
KLHL9	55958	broad.mit.edu	37	chr9	21333865	21333865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtaacggggagcatccattgGggctaaagatctccattctt	10	11	11	9	1	2	1	0	0	2	1	4	2	3	2	2	4	2	3	2	4	3	5			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr9:21333865G>A	uc003zoy.3	-	0	1565	c.994C>T	c.(994-996)Cca>Tca	p.P332S	KLHL9_uc003zow.3_Intron|KLHL9_uc003zox.3_Non-coding_Transcript	NM_018847	NP_061335	Q9P2J3	KLHL9_HUMAN	Homo sapiens kelch-like 9 (Drosophila) (KLHL9), mRNA.	332					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		GCATCCATTGGGGCTAAAGAT	0.418													84	133					0	0	1	0	0	A	21333865	G	A	21333865	3	1	125	1	0	0	0	0	1	0	0	0	8396	1232	43	3	863	3	KLHL9	9	21333865	Missense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08		21333865	119879566	15	5676											
SIT1	27240	broad.mit.edu	37	chr9	35650242	35650242	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgggtcttgagacagccgtCctgggacggggaacaggaat	9	7	16	9	2	1	1	0	1	1	1	2	5	2	4	2	5	2	0	2	5	2	1			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr9:35650242C>T	uc003zxe.1	-	4	393	c.296_splice	c.e4-1	p.G99_splice	SIT1_uc022bgl.1_Missense_Mutation_p.G20E	NM_014450	NP_055265	Q9Y3P8	SIT1_HUMAN	Homo sapiens signaling threshold regulating transmembrane adaptor 1 (SIT1), mRNA.	99					regulation of T cell activation|signal transduction	integral to plasma membrane	SH2 domain binding|kinase binding			endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	9			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGACAGCCGTCCTGGGACGGG	0.627													52	75					0	0	1	0	0	T	35650242	C	T	35650242	5	4	125	1	0	0	0	0	0	0	1	0	14344	869	30	3	302	3	SIT1	9	35650242	Splice_Site	SNP	C	TCGA-E1-5318-01A-01D-1468-08	14316377	35650242	105563189	16	5677											
LOC729020	729020	broad.mit.edu	37	chr10	105005791	105005791	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gattggcccgtccatcctcaAcagcgacctggccaatttag	9	9	9	14	2	1	0	1	0	0	0	3	2	3	0	5	2	2	0	5	2	3	3			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr10:105005791A>G	uc009xxi.2	+	0	148	c.38A>G	c.(37-39)aAc>aGc	p.N13S	BC040734_uc001kwr.3_Intron	NM_001143909	NP_001137381	Q2QD12	Q2QD12_HUMAN	Homo sapiens rcRPE (LOC729020), mRNA.	13					carbohydrate metabolic process		ribulose-phosphate 3-epimerase activity										TCCATCCTCAACAGCGACCTG	0.552													53	69					0	0	1	0	0	G	105005791	A	G	105005791	3	3	125	1	0	0	0	0	1	0	0	0	8888	43	2	3	40	3	LOC729020	10	105005791	Missense_Mutation	SNP	A	TCGA-E1-5318-01A-01D-1468-08		105005791	30528956	17	5678											
KNDC1	85442	broad.mit.edu	37	chr10	135038195	135038195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtgagccaggtgcacgCgttccaggagaacccttaca	9	7	14	11	2	0	2	0	1	0	1	1	3	1	2	3	4	4	2	3	4	2	2			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr10:135038195C>T	uc001llz.1	+	29	5052	c.5051C>T	c.(5050-5052)gCg>gTg	p.A1684V		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	1684	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAGGTGCACGCGTTCCAGGAG	0.597													23	51					0	0	1	0	0	T	135038195	C	T	135038195	3	4	125	1	0	0	0	0	1	0	0	0	8426	768	27	1	5169	1	KNDC1	10	135038195	Missense_Mutation	SNP	C	TCGA-E1-5318-01A-01D-1468-08	30032404	135038195	496552	18	5679											
OR52B6	340980	broad.mit.edu	37	chr11	5602864	5602864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcctttctcaagatgcccGctccaaggccctgagtacct	7	10	7	17	1	1	2	1	1	1	1	4	2	3	2	6	1	2	2	6	1	3	2			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr11:5602864G>A	uc010qzi.2	+	0	758	c.758G>A	c.(757-759)cGc>cAc	p.R253H	HBG1_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 6 (OR52B6), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGATGCCCGCTCCAAGGCC	0.507													37	307					0	0	1	0	0	A	5602864	G	A	5602864	3	1	125	1	0	0	0	0	1	0	0	0	11113	1087	38	1	760	1	OR52B6	11	5602864	Missense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08		5602864	129403652	19	5680											
OR4D10	390197	broad.mit.edu	37	chr11	59245574	59245574	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacatagtcatattatcattAcccaagtctcaggcaggaga	14	11	7	9	0	3	1	3	0	1	1	4	2	3	1	1	2	2	1	1	2	6	5			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr11:59245574A>T	uc001nnz.1	+	0	672	c.672A>T	c.(670-672)ttA>ttT	p.L224F		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TATTATCATTACCCAAGTCTC	0.478													5	160					0	0	1	0	0	T	59245574	A	T	59245574	3	4	125	1	0	0	0	0	1	0	0	0	11054	388	14	5	674	5	OR4D10	11	59245574	Missense_Mutation	SNP	A	TCGA-E1-5318-01A-01D-1468-08	53642710	59245574	75760942	20	5681											
MS4A6E	245802	broad.mit.edu	37	chr11	60105367	60105367	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagacttcttctttcttatGattatcattcaccttacacc	9	17	2	13	0	5	2	2	1	3	1	5	2	5	2	3	0	1	0	3	0	3	7			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr11:60105367G>T	uc001npd.3	+	1	315	c.301G>T	c.(301-303)Gat>Tat	p.D101Y		NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 6E (MS4A6E), mRNA.	101						integral to membrane	receptor activity	p.Y100Y(1)		endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						TCTTTCTTATGATTATCATTC	0.403													13	185					1	1	1	1	0	T	60105367	G	T	60105367	3	4	125	1	0	0	0	0	1	0	0	0	9865	1290	45	5	307	5	MS4A6E	11	60105367	Missense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08	859793	60105367	74901149	21	5682											
AHNAK	79026	broad.mit.edu	37	chr11	62299210	62299210	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacatccacttctgggccCtctgctttgaagccaggcat	7	12	8	14	0	3	1	1	1	2	0	4	1	4	1	3	2	2	2	3	2	1	3			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr11:62299210C>T	uc001ntl.3	-	4	2979	c.2679G>A	c.(2677-2679)gaG>gaA	p.E893E	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	893					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCTGGGCCCTCTGCTTTGA	0.517													256	310					0	0	1	0	0	T	62299210	C	T	62299210	2	4	125	1	0	0	0	0	0	0	0	1	414	680	24	3		3	AHNAK	11	62299210	Silent	SNP	C	TCGA-E1-5318-01A-01D-1468-08	2193843	62299210	72707306	22	5683											
CWF19L2	143884	broad.mit.edu	37	chr11	107224323	107224323	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatacagacatttttccattTgtgcagcaagactccgatgc	12	12	7	10	1	0	2	0	0	0	2	2	3	2	2	2	0	4	2	2	0	3	4			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr11:107224323T>C	uc010rvp.2	-	12	2042	c.2012A>G	c.(2011-2013)cAa>cGa	p.Q671R	CWF19L2_uc001pjh.4_Non-coding_Transcript|CWF19L2_uc009yxo.3_Non-coding_Transcript	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	Homo sapiens CWF19-like 2, cell cycle control (S. pombe) (CWF19L2), mRNA.	671							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TTTTTCCATTTGTGCAGCAAG	0.393													50	75					0	0	1	0	0	C	107224323	T	C	107224323	3	2	125	1	0	0	0	0	1	0	0	0	4072	1812	63	3	696	3	CWF19L2	11	107224323	Missense_Mutation	SNP	T	TCGA-E1-5318-01A-01D-1468-08	44925113	107224323	27782193	23	5684											
DSCAML1	57453	broad.mit.edu	37	chr11	117308781	117308781	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcctcgctgttgtccaccGagtactgtagcacgaagcct	8	10	9	14	3	0	0	0	0	0	0	3	2	2	0	4	0	3	5	4	0	3	3			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr11:117308781G>T	uc001prh.1	-	24	4444	c.4442C>A	c.(4441-4443)tCg>tAg	p.S1481*		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1421	Fibronectin type-III 6.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTTGTCCACCGAGTACTGTAG	0.612													3	62					1	1	1	1	0	T	117308781	G	T	117308781	4	4	125	1	0	0	0	0	0	1	0	0	4769	1059	37	5	1935	5	DSCAML1	11	117308781	Nonsense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08	10084458	117308781	17697735	24	5685											
KSR2	283455	broad.mit.edu	37	chr12	118016978	118016978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcccacagactgtgcacGtctgagacatccagtacttg	9	11	8	13	1	1	2	0	1	1	2	3	3	3	2	2	0	2	2	2	0	1	3			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr12:118016978G>A	uc001two.2	-	6	1239	c.1184C>T	c.(1183-1185)aCg>aTg	p.T395M		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	424					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GACTGTGCACGTCTGAGACAT	0.468													7	41					0	0	1	0	0	A	118016978	G	A	118016978	3	1	125	1	0	0	0	0	1	0	0	0	8582	1145	40	1	1637	1	KSR2	12	118016978	Missense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08		118016978	15834917	25	5686											
IL31	386653	broad.mit.edu	37	chr12	122658748	122658748	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagcaaggccagcttcagtGggggcttctggagccagatg	9	7	16	9	0	2	2	1	0	1	2	2	3	2	3	2	4	3	3	2	4	1	2			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr12:122658748G>T	uc001ubv.3	-	1	1	c.-26_splice	c.e1-1		LRRC43_uc001ubw.4_Intron|LRRC43_uc009zxl.1_Intron	NM_001014336	NP_001014358	Q6EBC2	IL31_HUMAN	Homo sapiens interleukin 31 (IL31), mRNA.							extracellular space	cytokine activity			central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)		CAGCTTCAGTGGGGGCTTCTG	0.572													33	27					1.61788e-16	1.90037e-16	1	1	0	T	122658748	G	T	122658748	5	4	125	1	0	0	0	0	0	0	1	0	7690	1363	47	5		5	IL31	12	122658748	Splice_Site	SNP	G	TCGA-E1-5318-01A-01D-1468-08	4641770	122658748	11193147	26	5687											
LMO7	4008	broad.mit.edu	37	chr13	76382215	76382215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gattcagtcctggaaactggGaactaccgtgcctcccatca	10	9	9	13	1	2	0	2	0	0	0	4	3	4	2	4	2	4	0	4	2	3	2			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr13:76382215G>A	uc021rkq.1	+	9	2131	c.1796G>A	c.(1795-1797)gGa>gAa	p.G599E	LMO7_uc010thv.2_Intron|LMO7_uc001vjt.1_Intron|LMO7_uc001vjv.3_Missense_Mutation_p.G366E|LMO7_uc010thw.2_Intron|LMO7_uc001vjw.1_Missense_Mutation_p.G272E	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	651						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	p.M599V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TGGAAACTGGGAACTACCGTG	0.498													25	54					0	0	1	0	0	A	76382215	G	A	76382215	3	1	125	1	0	0	0	0	1	0	0	0	8855	1174	41	3	1994	3	LMO7	13	76382215	Missense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08		76382215	38787663	27	5688											
CYP1A1	1543	broad.mit.edu	37	chr15	75012968	75012968	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggatagccaggaagagaaaGacctcccagcgggcaatggt	14	4	14	9	1	0	2	0	0	0	2	1	5	1	4	3	4	2	1	3	4	4	1			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr15:75012968G>C	uc002ayp.4	-	6	1523	c.1401C>G	c.(1399-1401)gtC>gtG	p.V467V	CYP1A1_uc010bjy.3_Silent_p.V438V|CYP1A1_uc010bju.3_Silent_p.V203V|CYP1A1_uc010bjv.3_Non-coding_Transcript|CYP1A1_uc010bjw.3_Non-coding_Transcript|CYP1A1_uc010bjx.3_Silent_p.V203V|CYP1A1_uc002ayq.4_Silent_p.V467V	NM_000499	NP_000490	P04798	CP1A1_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1), mRNA.	467					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	GGAAGAGAAAGACCTCCCAGC	0.542									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				35	138					0	0	1	0	0	C	75012968	G	C	75012968	2	2	125	1	0	0	0	0	0	0	0	1	4149	929	33	5		5	CYP1A1	15	75012968	Silent	SNP	G	TCGA-E1-5318-01A-01D-1468-08		75012968	27518424	28	5689											
IDH2	3418	broad.mit.edu	37	chr15	90631838	90631838	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcgccatgggcgtgcCtgccaatggtgatgggcttg	4	10	16	11	2	0	1	0	1	0	0	1	1	0	1	4	4	2	1	4	4	1	1	rs121913503		TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr15:90631838C>A	uc002box.3	-	3	601	c.515G>T	c.(514-516)aGg>aTg	p.R172M	IDH2_uc010uqb.2_Missense_Mutation_p.R120M|IDH2_uc010uqc.2_Missense_Mutation_p.R42M	NM_002168	NP_002159	P48735	IDHP_HUMAN	Homo sapiens isocitrate dehydrogenase 2 (NADP+), mitochondrial (IDH2), nuclear gene encoding mitochondrial protein, mRNA.	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding	p.R172K(358)|p.R172M(44)|p.R172S(18)|p.R172W(16)|p.R172?(13)|p.R172G(5)|p.G171D(4)|p.R172N(2)|p.R172L(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								63	76					7.05995e-25	8.56453e-25	1	1	0	A	90631838	C	A	90631838	3	1	125	1	0	0	0	0	1	0	0	0	7495	681	24	5	875	5	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-E1-5318-01A-01D-1468-08	15618870	90631838	11899554	29	5690											
PRC1	9055	broad.mit.edu	37	chr15	91512310	91512310	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggattgccatacagaccTgaagcccaacagtggaactg	13	6	11	11	0	0	2	0	1	0	1	0	4	0	4	3	2	5	0	3	2	4	2			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr15:91512310T>C	uc002bqm.3	-	14	1948	c.1791_splice	c.e14+1	p.Q597_splice	PRC1_uc002bqn.3_Intron|PRC1_uc002bqo.3_Intron|PRC1_uc010uqs.2_Intron	NM_003981	NP_003972	O43663	PRC1_HUMAN	Homo sapiens protein regulator of cytokinesis 1 (PRC1), transcript variant 1, mRNA.	597	Unstructured, Arg/Lys rich.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					CATACAGACCTGAAGCCCAAC	0.468													3	107					0	0	1	0	0	C	91512310	T	C	91512310	5	2	125	1	0	0	0	0	0	0	1	0	12446	1594	55	4	80	4	PRC1	15	91512310	Splice_Site	SNP	T	TCGA-E1-5318-01A-01D-1468-08	880472	91512310	11019082	30	5691											
CDH5	1003	broad.mit.edu	37	chr16	66436644	66436644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggagatccacgagcagctgGtcacctacgacgaggagggc	10	4	15	12	4	1	1	1	0	0	1	2	6	2	2	2	4	3	2	2	4	1	1			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr16:66436644G>A	uc002eom.4	+	11	2083	c.1927G>A	c.(1927-1929)Gtc>Atc	p.V643I		NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	643					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CGAGCAGCTGGTCACCTACGA	0.711													5	16					0	0	1	0	0	A	66436644	G	A	66436644	3	1	125	1	0	0	0	0	1	0	0	0	3113	1261	44	3	1969	3	CDH5	16	66436644	Missense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08		66436644	23918109	31	5692											
KRT33B	3884	broad.mit.edu	37	chr17	39521763	39521763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagcagcgtccacctccaCgttgaggcggtctccaagct	7	7	13	14	3	1	1	0	1	1	0	4	2	3	2	4	3	3	3	4	3	1	1			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr17:39521763C>T	uc002hwl.3	-	3	676	c.631G>A	c.(631-633)Gtg>Atg	p.V211M		NM_002279	NP_002270	Q14525	KT33B_HUMAN	Homo sapiens keratin 33B (KRT33B), mRNA.	211	Linker 12.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TCCACCTCCACGTTGAGGCGG	0.522													26	35					0	0	1	0	0	T	39521763	C	T	39521763	3	4	125	1	0	0	0	0	1	0	0	0	8470	536	19	1	599	1	KRT33B	17	39521763	Missense_Mutation	SNP	C	TCGA-E1-5318-01A-01D-1468-08		39521763	41673447	32	5693											
EMILIN2	84034	broad.mit.edu	37	chr18	2913224	2913224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcctggaataccaccgccCtccaggagctttgcatacct	8	10	8	15	1	0	0	0	0	0	0	2	2	2	2	6	2	4	3	6	2	3	4			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr18:2913224C>T	uc002kln.3	+	7	3143	c.2984C>T	c.(2983-2985)cCt>cTt	p.P995L		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	995	C1q.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding	p.R994L(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TACCACCGCCCTCCAGGAGCT	0.632													4	75					0	0	1	0	0	T	2913224	C	T	2913224	3	4	125	1	0	0	0	0	1	0	0	0	5094	681	24	3	3014	3	EMILIN2	18	2913224	Missense_Mutation	SNP	C	TCGA-E1-5318-01A-01D-1468-08		2913224	75164024	33	5694											
ELL	8178	broad.mit.edu	37	chr19	18557617	18557617	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggaaacgctgcaggttccGtttaaacctacgagagcaaa	13	8	10	10	3	0	1	0	0	0	1	1	3	1	2	2	2	5	5	2	2	5	4	rs73923115	byFrequency	TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr19:18557617G>A	uc002njh.3	-	8	1545	c.1473C>T	c.(1471-1473)aaC>aaT	p.N491N	ELL_uc010ebq.3_Silent_p.N434N|ELL_uc002njg.3_Silent_p.N358N	NM_006532	NP_006523	P55199	ELL_HUMAN	Homo sapiens elongation factor RNA polymerase II (ELL), mRNA.	491					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		TGCAGGTTCCGTTTAAACCTA	0.572			T	MLL	AL								13	50					0	0	1	0	0	A	18557617	G	A	18557617	2	1	125	1	0	0	0	0	0	0	0	1	5062	1136	40	1		1	ELL	19	18557617	Silent	SNP	G	TCGA-E1-5318-01A-01D-1468-08		18557617	40571366	34	5695											
PRODH2	58510	broad.mit.edu	37	chr19	36302867	36302867	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccgcttgagatccttacctgCccagagtccatagcttcagc	8	10	8	15	1	1	2	1	1	0	2	3	3	3	2	5	0	4	2	5	0	2	4			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr19:36302867C>T	uc002obx.1	-	4	840	c.822G>A	c.(820-822)ggG>ggA	p.G274G		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	274					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCTTACCTGCCCAGAGTCCA	0.597													23	13					0	0	1	0	0	T	36302867	C	T	36302867	2	4	125	1	0	0	0	0	0	0	0	1	12549	726	26	3		3	PRODH2	19	36302867	Silent	SNP	C	TCGA-E1-5318-01A-01D-1468-08	17745250	36302867	22826116	35	5696											
CIC	23152	broad.mit.edu	37	chr19	42795241	42795242	+	Frame_Shift_Ins	INS	-	-	GCCCCCT																															ccggggtatggggcccctgcINSgccccctgctgtccagttca																										TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr19:42795241_42795242insGCCCCCT	uc002otf.1	+	9	2361_2362	c.2321_2322insGCCCCCT	c.(2320-2322)gcgfs	p.A774fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	774	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGGGCCCCTGCGCCCCCTGCTG	0.698			"Mis, F, S"		oligodendroglioma								10	27	---	---	---	---						GCCCCCT	42795242	-	GCCCCCT	42795241	7	5	125	1	0	1	1	0	0	0	0	0	3424	768	27	0	2359	0	CIC	19	42795241	Frame_Shift_Ins	INS	-	TCGA-E1-5318-01A-01D-1468-08	6492374	42795241	16333742	36	5697											
KLK4	9622	broad.mit.edu	37	chr19	51411835	51411835	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacacacccgtgagctcacCgttcgccagcagaccccagc	10	4	8	19	3	1	2	1	1	0	1	2	2	1	2	5	0	3	3	5	0	0	1			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr19:51411835C>T	uc002pua.1	-	3	475	c.475_splice	c.e3+1	p.G159_splice	KLK4_uc002pty.1_Splice_Site_p.G110_splice|KLK4_uc002ptz.1_Splice_Site|KLK4_uc002pub.1_Splice_Site_p.G64_splice|KLK4_uc002puc.1_Splice_Site|KLK4_uc010eoi.1_Missense_Mutation_p.G64S|KLK4_uc002pud.1_Splice_Site_p.G64_splice	NM_004917	NP_004908	Q9Y5K2	KLK4_HUMAN	Homo sapiens kallikrein-related peptidase 4 (KLK4), mRNA.	159	Peptidase S1.		G -> D (in dbSNP:rs34626614).		proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GTGAGCTCACCGTTCGCCAGC	0.637													8	75					0	0	1	0	0	T	51411835	C	T	51411835	5	4	125	1	0	0	0	0	0	0	1	0	8406	666	23	2	301	2	KLK4	19	51411835	Splice_Site	SNP	C	TCGA-E1-5318-01A-01D-1468-08	8616594	51411835	7717148	37	5698											
CASS4	57091	broad.mit.edu	37	chr20	55033517	55033517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agccatcagcgcatttcacgGcagcctcagcagcagccagc	10	5	10	16	2	3	0	3	0	0	0	3	0	3	0	3	1	7	4	3	1	0	1			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr20:55033517G>A	uc002xxp.2	+	6	2300	c.2075G>A	c.(2074-2076)gGc>gAc	p.G692D	CASS4_uc010zze.1_Missense_Mutation_p.G638D|CASS4_uc002xxr.2_Missense_Mutation_p.G692D|CASS4_uc010gio.2_Missense_Mutation_p.G255D	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	692					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GCATTTCACGGCAGCCTCAGC	0.582													4	61					0	0	1	0	0	A	55033517	G	A	55033517	3	1	125	1	0	0	0	0	1	0	0	0	2683	1203	42	3	2097	3	CASS4	20	55033517	Missense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08		55033517	7992003	38	5699											
BRWD1	54014	broad.mit.edu	37	chr21	40590181	40590181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacaaatcaacagggcctgCaaaagctgctgctatatctg	14	8	8	11	0	2	0	1	0	1	0	2	0	2	0	1	1	5	4	1	1	6	2	rs75547980		TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr21:40590181C>T	uc002yxk.2	-	30	3851	c.3556G>A	c.(3556-3558)Gca>Aca	p.A1186T	BRWD1_uc010goc.1_Intron|BRWD1_uc021wjf.1_Missense_Mutation_p.A1186T|BRWD1_uc010god.1_Missense_Mutation_p.A152T	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	1186	Bromo 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACAGGGCCTGCAAAAGCTGCT	0.368													23	136					0	0	1	0	0	T	40590181	C	T	40590181	3	4	125	1	0	0	0	0	1	0	0	0	1525	710	25	3	3693	3	BRWD1	21	40590181	Missense_Mutation	SNP	C	TCGA-E1-5318-01A-01D-1468-08		40590181	7539714	39	5700											
ARSE	415	broad.mit.edu	37	chrX	2867631	2867631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttgttccaggttgacacGcttctctgagagttcccagc	6	15	9	11	1	1	2	0	2	1	1	4	3	3	2	2	1	1	4	2	1	0	6			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:2867631G>A	uc011mhh.2	-	6	1104	c.643C>T	c.(643-645)Cgt>Tgt	p.R215C	ARSE_uc011mhi.2_Missense_Mutation_p.R136C|ARSE_uc004crc.4_Missense_Mutation_p.R190C			P51690	ARSE_HUMAN	Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA.	190					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGTTGACACGCTTCTCTGAG	0.527													7	70					0	0	1	0	0	A	2867631	G	A	2867631	3	1	125	1	0	0	0	0	1	0	0	0	990	1087	38	1	1225	1	ARSE	23	2867631	Missense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08		2867631	152402929	40	5701											
PDHA1	5160	broad.mit.edu	37	chrX	19368118	19368118	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtgctcaccagggaggatGggctcaaatactacaggatg	12	7	13	9	0	2	0	2	0	0	0	2	3	2	3	1	4	3	2	1	4	3	2			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:19368118G>C	uc004czg.4	+	2	326	c.181G>C	c.(181-183)Ggg>Cgg	p.G61R	PDHA1_uc004czh.4_Missense_Mutation_p.G99R|PDHA1_uc011mjc.2_Missense_Mutation_p.G61R|PDHA1_uc011mjd.2_Missense_Mutation_p.G61R	NM_000284	NP_000275	P08559	ODPA_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	61					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	CAGGGAGGATGGGCTCAAATA	0.453													74	95					0	0	1	0	0	C	19368118	G	C	19368118	3	2	125	1	0	0	0	0	1	0	0	0	11664	1348	47	5	309	5	PDHA1	23	19368118	Missense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08	16500487	19368118	135902442	41	5702											
MAGEB2	4113	broad.mit.edu	37	chrX	30237371	30237371	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgaggaagagatctgggAattcctgaatatgttgggag	12	11	14	4	0	1	3	0	2	1	1	2	7	2	6	1	3	1	1	1	3	5	4			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:30237371A>T	uc022buf.1	+	0	674	c.674A>T	c.(673-675)gAa>gTa	p.E225V	MAGEB2_uc004dbz.3_Missense_Mutation_p.E225V	NM_002364	NP_002355	O15479	MAGB2_HUMAN	Homo sapiens melanoma antigen family B, 2 (MAGEB2), mRNA.	225	MAGE.						protein binding	p.W224L(1)		breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						GAGATCTGGGAATTCCTGAAT	0.483													14	59					0	0	1	0	0	T	30237371	A	T	30237371	3	4	125	1	0	0	0	0	1	0	0	0	9176	246	9	5	676	5	MAGEB2	23	30237371	Missense_Mutation	SNP	A	TCGA-E1-5318-01A-01D-1468-08	10869253	30237371	125033189	42	5703											
BCOR	54880	broad.mit.edu	37	chrX	39933875	39933875	+	Frame_Shift_Del	DEL	C	C	-																															cggcaggtagagaaagcgctCcccattggtgcagactggag																										TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:39933875delC	uc004den.4	-	3	1016	c.724delG	c.(724-726)gagfs	p.E242fs	BCOR_uc004dep.4_Frame_Shift_Del_p.E242fs|BCOR_uc004deo.4_Frame_Shift_Del_p.E242fs|BCOR_uc004dem.4_Frame_Shift_Del_p.E242fs|BCOR_uc004deq.4_Frame_Shift_Del_p.E242fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	242					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						AGAAAGCGCTCCCCATTGGTG	0.577			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						42	68	---	---	---	---						-	39933875	C	-	39933875	7	5	125	1	0	1	0	1	0	0	0	0	1386	864	30	0	4591	0	BCOR	23	39933875	Frame_Shift_Del	DEL	C	TCGA-E1-5318-01A-01D-1468-08	9696504	39933875	115336685	43	5704											
NLGN3	54413	broad.mit.edu	37	chrX	70387552	70387552	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgtttttggggttcctatGgtaggccccactgacctttt	5	17	10	9	0	0	1	0	1	0	0	1	1	1	1	4	4	0	3	4	4	3	8			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:70387552G>T	uc004dzd.2	+	6	1939	c.1605G>T	c.(1603-1605)atG>atT	p.M535I	NLGN3_uc004dzb.3_Missense_Mutation_p.M515I|NLGN3_uc011mps.2_Missense_Mutation_p.M495I|NLGN3_uc004dzc.3_Missense_Mutation_p.M398I|NLGN3_uc004dze.3_Missense_Mutation_p.M333I	NM_181303	NP_851820	Q9NZ94	NLGN3_HUMAN	Homo sapiens neuroligin 3 (NLGN3), transcript variant 1, mRNA.	535					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GGGTTCCTATGGTAGGCCCCA	0.498													11	269					1.08611e-07	1.25581e-07	1	1	0	T	70387552	G	T	70387552	3	4	125	1	0	0	0	0	1	0	0	0	10463	1348	47	5	1627	5	NLGN3	23	70387552	Missense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08	30453677	70387552	84883008	44	5705											
ATP7A	538	broad.mit.edu	37	chrX	77301816	77301816	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaaaccaacttacgagagtTatgaactgcctgcccggagc	12	7	11	11	2	0	2	0	1	0	1	0	5	0	4	3	2	7	1	3	2	5	2			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:77301816T>G	uc004ecx.4	+	22	4412	c.4252T>G	c.(4252-4254)Tat>Gat	p.Y1418D		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	1418					ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TTACGAGAGTTATGAACTGCC	0.413													15	343					0	0	1	0	0	G	77301816	T	G	77301816	3	3	125	1	0	0	0	0	1	0	0	0	1190	1754	61	5	4338	5	ATP7A	23	77301816	Missense_Mutation	SNP	T	TCGA-E1-5318-01A-01D-1468-08	6914264	77301816	77968744	45	5706											
PGRMC1	10857	broad.mit.edu	37	chrX	118370561	118370561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttcacccccgccgagctgCggcgcttcgacggcgtccag	5	6	12	18	7	1	0	1	0	0	0	3	2	2	0	4	2	2	2	4	2	0	2			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:118370561C>T	uc004erb.3	+	0	351	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	PGRMC1_uc011mts.2_Missense_Mutation_p.R79W	NM_006667	NP_006658	O00264	PGRC1_HUMAN	Homo sapiens progesterone receptor membrane component 1 (PGRMC1), mRNA.	79	Cytochrome b5 heme-binding.					cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus	heme binding|protein binding|receptor activity|steroid binding			lung(6)	6						CGCCGAGCTGCGGCGCTTCGA	0.711													10	20					0	0	1	0	0	T	118370561	C	T	118370561	3	4	125	1	0	0	0	0	1	0	0	0	11806	759	27	1	237	1	PGRMC1	23	118370561	Missense_Mutation	SNP	C	TCGA-E1-5318-01A-01D-1468-08	41068745	118370561	36899999	46	5707											
LAMP2	3920	broad.mit.edu	37	chrX	119581704	119581704	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacacctataccttatcctGagtgatgttcagctgcagcc	10	11	8	12	0	1	3	1	2	0	1	2	3	2	3	4	0	4	3	4	0	3	4			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:119581704G>A	uc004ess.4	-	4	913	c.733C>T	c.(733-735)Cag>Tag	p.Q245*	LAMP2_uc004est.4_Nonsense_Mutation_p.Q245*|LAMP2_uc011mtz.2_Nonsense_Mutation_p.Q134*|LAMP2_uc011mua.1_Nonsense_Mutation_p.Q198*|LAMP2_uc010nqp.1_Nonsense_Mutation_p.Q245*	NM_001122606	NP_001116078	P13473	LAMP2_HUMAN	Homo sapiens lysosomal-associated membrane protein 2 (LAMP2), transcript variant C, mRNA.	245	Second lumenal domain.				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						ACCTTATCCTGAGTGATGTTC	0.403													19	238					0	0	1	0	0	A	119581704	G	A	119581704	4	1	125	1	0	0	0	0	0	1	0	0	8618	1299	45	3	810	3	LAMP2	23	119581704	Nonsense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08	1211143	119581704	35688856	47	5708											
FUBP1	8880	broad.mit.edu	37	chr1	78432577	78432577	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaacattaccaggagctaTctgtattttgcatccagatt	11	15	7	8	0	1	1	0	0	1	1	2	2	2	2	2	1	4	4	2	1	4	7			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr1:78432577T>C	uc001dii.3	-	5	495	c.406A>G	c.(406-408)Ata>Gta	p.I136V	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Missense_Mutation_p.I157V	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	136	KH 1.				transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CCAGGAGCTATCTGTATTTTG	0.318			"F, N"		oligodendroglioma								18	22					0	0	0.001523	0	0	C	78432577	T	C	78432577	3	2	126	1	0	0	0	0	1	0	0	0	6092	1435	50	3	1588	3	FUBP1	1	78432577	Missense_Mutation	SNP	T	TCGA-E1-5319-01A-01D-1893-08		78432577	170818044	1	5709											
MARK1	4139	broad.mit.edu	37	chr1	220791711	220791711	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attgctgactttggttttagTaatgaatttacagttgggaa	11	17	10	3	0	0	2	0	2	0	0	0	3	0	3	0	2	2	4	0	2	5	8			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr1:220791711T>C	uc009xdw.3	+	7	1209	c.612T>C	c.(610-612)agT>agC	p.S204S	MARK1_uc001hmn.4_Silent_p.S204S|MARK1_uc010pun.2_Silent_p.S204S|MARK1_uc001hmm.4_Silent_p.S182S	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA.	204	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TTGGTTTTAGTAATGAATTTA	0.383													21	61					0	0	0.00278	0	0	C	220791711	T	C	220791711	2	2	126	1	0	0	0	0	0	0	0	1	9312	1635	57	3		3	MARK1	1	220791711	Silent	SNP	T	TCGA-E1-5319-01A-01D-1893-08	142359134	220791711	28458910	2	5710											
NCOA1	8648	broad.mit.edu	37	chr2	24952593	24952593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgctttttcacctggcatggGcatgcagcccaggcaaactc	8	10	10	13	0	1	0	1	0	0	0	2	0	1	0	2	3	4	5	2	3	1	2			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr2:24952593G>A	uc002rfk.3	+	14	3369	c.3110G>A	c.(3109-3111)gGc>gAc	p.G1037D	NCOA1_uc010eye.3_Missense_Mutation_p.G1037D|NCOA1_uc002rfi.3_Missense_Mutation_p.G886D|NCOA1_uc002rfj.3_Missense_Mutation_p.G1037D|NCOA1_uc002rfl.3_Missense_Mutation_p.G1037D	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.	1037									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGGCATGGGCATGCAGCCC	0.542			T	PAX3	alveolar rhadomyosarcoma								4	194					0	0	0.000248	0	0	A	24952593	G	A	24952593	3	1	126	1	0	0	0	0	1	0	0	0	10228	1203	42	3	3160	3	NCOA1	2	24952593	Missense_Mutation	SNP	G	TCGA-E1-5319-01A-01D-1893-08		24952593	218246780	3	5711											
CAD	790	broad.mit.edu	37	chr2	27447693	27447693	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acagtgcagacctcccagggGctggccgacaaggtctattt	9	8	12	12	1	1	1	0	0	1	1	2	2	2	1	3	4	1	2	3	4	2	2			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr2:27447693G>A	uc002rji.3	+	9	1497	c.1335G>A	c.(1333-1335)ggG>ggA	p.G445G	CAD_uc010eyw.3_Silent_p.G445G	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	445	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CCTCCCAGGGGCTGGCCGACA	0.517													4	246					0	0	0.000248	0	0	A	27447693	G	A	27447693	2	1	126	1	0	0	0	0	0	0	0	1	2565	1190	42	3		3	CAD	2	27447693	Silent	SNP	G	TCGA-E1-5319-01A-01D-1893-08	2495100	27447693	215751680	4	5712											
SPTBN1	6711	broad.mit.edu	37	chr2	54876248	54876248	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctcaaccgggaggtggAcgacctggagcagtggatcg	9	5	16	11	3	1	0	1	0	0	0	2	5	1	4	3	5	3	2	3	5	1	0			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr2:54876248A>G	uc002rxu.3	+	24	5372	c.5123A>G	c.(5122-5124)gAc>gGc	p.D1708G	SPTBN1_uc002rxx.3_Missense_Mutation_p.D1695G	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	1708	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CGGGAGGTGGACGACCTGGAG	0.542													3	100					0	0	0.000248	0	0	G	54876248	A	G	54876248	3	3	126	1	0	0	0	0	1	0	0	0	15118	275	10	3	5330	3	SPTBN1	2	54876248	Missense_Mutation	SNP	A	TCGA-E1-5319-01A-01D-1893-08	27428555	54876248	188323125	5	5713											
TET3	200424	broad.mit.edu	37	chr2	74300737	74300737	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgggatctggccccacggtCgcctctatccgggaactcat	6	10	11	14	3	3	0	1	0	2	0	5	2	4	2	4	4	1	0	4	4	2	2			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr2:74300737C>T	uc002skb.4	+	1	2151	c.2151C>T	c.(2149-2151)gtC>gtT	p.V717V	TET3_uc010fez.2_Silent_p.V717V	NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	717							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.T716T(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCCCACGGTCGCCTCTATCC	0.448													3	27					0	0	0.000248	0	0	T	74300737	C	T	74300737	2	4	126	1	0	0	0	0	0	0	0	1	15768	871	31	2		2	TET3	2	74300737	Silent	SNP	C	TCGA-E1-5319-01A-01D-1893-08	19424489	74300737	168898636	6	5714											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								27	45					0	0	0.001786	0	0	T	209113112	C	T	209113112	3	4	126	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-5319-01A-01D-1893-08	134812375	209113112	34086261	7	5715											
MYH15	22989	broad.mit.edu	37	chr3	108172944	108172944	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gactttagatagtctctcatCtcttattgcttccagttggc	7	17	7	10	0	3	1	1	0	2	1	6	2	4	1	1	1	1	2	1	1	3	7			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr3:108172944C>G	uc003dxa.1	-	21	2425	c.2368G>C	c.(2368-2370)Gat>Cat	p.D790H		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	790	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AGTCTCTCATCTCTTATTGCT	0.393													5	51					0	0	0.000602	0	0	G	108172944	C	G	108172944	3	3	126	1	0	0	0	0	1	0	0	0	10034	913	32	5	3556	5	MYH15	3	108172944	Missense_Mutation	SNP	C	TCGA-E1-5319-01A-01D-1893-08		108172944	89849486	8	5716											
SPSB4	92369	broad.mit.edu	37	chr3	140785590	140785590	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgtacccggtggtgagtgCcgtgtggggccactgtgaag	5	9	18	9	2	0	2	0	2	0	0	0	2	0	2	3	4	2	2	3	4	2	1			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr3:140785590C>T	uc003ett.3	+	1	889	c.644C>T	c.(643-645)gCc>gTc	p.A215V	SPSB4_uc010hum.3_Missense_Mutation_p.A215V	NM_080862	NP_543138	Q96A44	SPSB4_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 4 (SPSB4), mRNA.	215	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding	p.S214G(1)		biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GTGGTGAGTGCCGTGTGGGGC	0.617													4	86					0	0	0.000602	0	0	T	140785590	C	T	140785590	3	4	126	1	0	0	0	0	1	0	0	0	15114	739	26	3	646	3	SPSB4	3	140785590	Missense_Mutation	SNP	C	TCGA-E1-5319-01A-01D-1893-08	32612646	140785590	57236840	9	5717											
SI	6476	broad.mit.edu	37	chr3	164767582	164767582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaccaaataaattttaccagGagtaaacggtggataattca	18	10	7	6	1	1	0	1	0	0	0	1	2	1	2	2	3	3	1	2	3	8	6			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr3:164767582G>A	uc003fei.3	-	13	1657	c.1594C>T	c.(1594-1596)Cct>Tct	p.P532S		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	532	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATTTTACCAGGAGTAAACGGT	0.264										HNSCC(35;0.089)			16	56					0	0	0.006122	0	0	A	164767582	G	A	164767582	3	1	126	1	0	0	0	0	1	0	0	0	14297	1174	41	3	4029	3	SI	3	164767582	Missense_Mutation	SNP	G	TCGA-E1-5319-01A-01D-1893-08	23981992	164767582	33254848	10	5718											
PDE6B	5158	broad.mit.edu	37	chr4	658702	658702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacagcctgcgacctgtctgCcatcaccaagccctgggaag	9	6	11	15	1	2	0	1	0	1	0	2	3	2	1	5	1	4	0	5	1	2	0			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr4:658702C>T	uc003gap.3	+	17	2215	c.2162C>T	c.(2161-2163)gCc>gTc	p.A721V	PDE6B_uc003gao.4_Missense_Mutation_p.A721V|PDE6B_uc011buy.2_Missense_Mutation_p.A442V|PDE6B_uc011buz.2_Missense_Mutation_p.A153V	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	721					GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GACCTGTCTGCCATCACCAAG	0.602													4	99					0	0	0.000602	0	0	T	658702	C	T	658702	3	4	126	1	0	0	0	0	1	0	0	0	11646	739	26	3	2232	3	PDE6B	4	658702	Missense_Mutation	SNP	C	TCGA-E1-5319-01A-01D-1893-08		658702	190495574	11	5719											
YTHDC1	91746	broad.mit.edu	37	chr4	69179953	69179953	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtctcgctctcgttccCggtctctttcacggggtcta	2	13	12	14	5	5	0	1	0	4	0	9	0	6	0	1	5	0	2	1	5	1	3			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr4:69179953C>T	uc003hdx.3	-	16	2401	c.2048G>A	c.(2047-2049)cGg>cAg	p.R683Q	YTHDC1_uc003hdy.3_Missense_Mutation_p.R665Q	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA.	683	Arg-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ctctcgttcccggtctctttc	0.493													15	21					0	0	0.00245	0	0	T	69179953	C	T	69179953	3	4	126	1	0	0	0	0	1	0	0	0	17493	652	23	2	139	2	YTHDC1	4	69179953	Missense_Mutation	SNP	C	TCGA-E1-5319-01A-01D-1893-08	68521251	69179953	121974323	12	5720											
ODZ2	57451	broad.mit.edu	37	chr5	167674845	167674845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggtggagtgtccagtacCgctatgatggcgtaggacgg	7	8	18	8	4	0	1	0	1	0	0	1	3	1	3	2	5	1	3	2	5	3	3			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr5:167674845C>T	uc010jjd.3	+	26	6874	c.6874C>T	c.(6874-6876)Cgc>Tgc	p.R2292C	ODZ2_uc003lzr.4_Missense_Mutation_p.R2062C|ODZ2_uc003lzt.4_Missense_Mutation_p.R1665C|ODZ2_uc010jje.3_Missense_Mutation_p.R1556C	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TGTCCAGTACCGCTATGATGG	0.567													38	107					0	0	0.005524	0	0	T	167674845	C	T	167674845	3	4	126	1	0	0	0	0	1	0	0	0	10835	652	23	2	6980	2	ODZ2	5	167674845	Missense_Mutation	SNP	C	TCGA-E1-5319-01A-01D-1893-08		167674845	13240415	13	5721											
BTNL3	10917	broad.mit.edu	37	chr5	180420089	180420089	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacatcactccctcggacaTcggcctgtatgggtgctggt	8	10	11	12	2	1	0	1	0	0	0	4	1	2	1	2	4	2	2	2	4	2	1			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr5:180420089T>A	uc003mmr.3	+	1	510	c.326T>A	c.(325-327)aTc>aAc	p.I109N		NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Homo sapiens butyrophilin-like 3 (BTNL3), mRNA.	109					lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			CCCTCGGACATCGGCCTGTAT	0.522													13	2					0	0	0.001855	0	0	A	180420089	T	A	180420089	3	1	126	1	0	0	0	0	1	0	0	0	1566	1435	50	5	332	5	BTNL3	5	180420089	Missense_Mutation	SNP	T	TCGA-E1-5319-01A-01D-1893-08	12745244	180420089	495171	14	5722											
SYNGAP1	8831	broad.mit.edu	37	chr6	33405883	33405883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggaggttgcccggctgtgCggctgaaagcacgttaccag	9	7	15	10	3	0	1	0	1	0	0	0	2	0	2	2	4	4	5	2	4	3	2			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr6:33405883C>T	uc011dri.2	+	7	1396	c.1201C>T	c.(1201-1203)Cgg>Tgg	p.R401W	SYNGAP1_uc003oeo.1_Missense_Mutation_p.R386W|SYNGAP1_uc010juy.3_Missense_Mutation_p.R386W|SYNGAP1_uc010juz.3_Missense_Mutation_p.R113W	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.	401					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CCCGGCTGTGCGGCTGAAAGC	0.592													22	163					0	0	0.00333	0	0	T	33405883	C	T	33405883	3	4	126	1	0	0	0	0	1	0	0	0	15444	759	27	1	1231	1	SYNGAP1	6	33405883	Missense_Mutation	SNP	C	TCGA-E1-5319-01A-01D-1893-08		33405883	137709184	15	5723											
SYNE1	23345	broad.mit.edu	37	chr6	152831491	152831491	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagctggggcaggttgcTggtcaactcttcaatctgtt	6	13	13	9	0	4	0	2	0	2	0	4	1	4	1	0	5	3	5	0	5	2	3			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr6:152831491T>C	uc021zhb.1	-	5	641	c.418A>G	c.(418-420)Agc>Ggc	p.S140G	SYNE1_uc003qot.4_Missense_Mutation_p.S147G|SYNE1_uc003qou.4_Missense_Mutation_p.S140G|SYNE1_uc010kjb.1_Missense_Mutation_p.S140G|SYNE1_uc003qpa.1_Missense_Mutation_p.S140G	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	140	Actin-binding.				Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		GGCAGGTTGCTGGTCAACTCT	0.448										HNSCC(10;0.0054)			32	43					0	0	0.002836	0	0	C	152831491	T	C	152831491	3	2	126	1	0	0	0	0	1	0	0	0	15442	1580	55	4	26604	4	SYNE1	6	152831491	Missense_Mutation	SNP	T	TCGA-E1-5319-01A-01D-1893-08	119425608	152831491	18283576	16	5724											
SYNJ2	8871	broad.mit.edu	37	chr6	158504625	158504627	+	In_Frame_Del	DEL	AGA	AGA	-																															acaagtttggactatgagtcAgaaggttagtgaccctgcag																										TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr6:158504625_158504627delAGA	uc003qqx.2	+	20	3136_3138	c.3030_3032delAGA	c.(3028-3033)tcagaa>tca	p.E1011del	SYNJ2_uc003qqw.2_In_Frame_Del_p.E1011del|SYNJ2_uc003qqy.2_In_Frame_Del_p.E774del|SYNJ2_uc003qqz.2_In_Frame_Del_p.E628del|SYNJ2_uc003qra.2_In_Frame_Del_p.E354del	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	1011							RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ACTATGAGTCAGAAGGTTAGTGA	0.517													33	143	---	---	---	---						-	158504627	AGA	-	158504625	7	5	126	1	0	1	0	1	0	0	0	0	15450	175	7	0	3112	0	SYNJ2	6	158504625	In_Frame_Del	DEL	AGA	TCGA-E1-5319-01A-01D-1893-08	5673134	158504625	12610442	17	5725											
ACTB	60	broad.mit.edu	37	chr7	5567674	5567676	+	In_Frame_Del	DEL	CTT	CTT	-																															ggtgccagggcagtgatctcCttctgcatcctgtcggcaat																										TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr7:5567674_5567676delCTT	uc003sot.4	-	4	1027_1029	c.943_945delAAG	c.(943-945)aagdel	p.K315del	ACTB_uc003sor.4_In_Frame_Del_p.K193del|ACTB_uc003soq.4_In_Frame_Del_p.K193del	NM_001101	NP_001092	P60709	ACTB_HUMAN	Homo sapiens actin, beta (ACTB), mRNA.	315					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	MLL5-L complex|NuA4 histone acetyltransferase complex|cytoskeleton|cytosol|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CAGTGATCTCCTTCTGCATCCTG	0.581													8	245	---	---	---	---						-	5567676	CTT	-	5567674	7	5	126	1	0	1	0	1	0	0	0	0	193	680	24	0	190	0	ACTB	7	5567674	In_Frame_Del	DEL	CTT	TCGA-E1-5319-01A-01D-1893-08		5567674	153570989	18	5726											
MGAM	8972	broad.mit.edu	37	chr7	141799485	141799485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accacattaatcttcatgtcCgtgggggctacatcctgccc	8	11	8	14	1	2	0	1	0	1	0	4	0	4	0	4	2	2	1	4	2	2	3			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr7:141799485C>T	uc003vwy.3	+	43	5188	c.5134C>T	c.(5134-5136)Cgt>Tgt	p.R1712C		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1712	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCTTCATGTCCGTGGGGGCTA	0.498													8	87					0	0	0.00308	0	0	T	141799485	C	T	141799485	3	4	126	1	0	0	0	0	1	0	0	0	9541	652	23	2	5304	2	MGAM	7	141799485	Missense_Mutation	SNP	C	TCGA-E1-5319-01A-01D-1893-08	136231811	141799485	17339178	19	5727											
SSPO	23145	broad.mit.edu	37	chr7	149486393	149486393	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccgtgcccccagggcttgCtggcctgtgccgatggacgc	4	8	14	15	3	0	0	0	0	0	0	1	2	1	1	5	3	3	2	5	3	0	1	rs116737043	by1000genomes	TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr7:149486393C>T	uc010lpk.3	+	29	4369	c.4369C>T	c.(4369-4371)Ctg>Ttg	p.L1457L		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1457	LDL-receptor class A 3.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGGGCTTGCTGGCCTGTGC	0.677													3	40					0	0	0.000248	0	0	T	149486393	C	T	149486393	2	4	126	1	0	0	0	0	0	0	0	1	15188	796	28	3		3	SSPO	7	149486393	Silent	SNP	C	TCGA-E1-5319-01A-01D-1893-08	7686908	149486393	9652270	20	5728											
MLL3	58508	broad.mit.edu	37	chr7	151845685	151845686	+	Frame_Shift_Del	DEL	GA	GA	-																															atttattaaggcaccagcctGagtctcatagacctccgtgg																										TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr7:151845685_151845686delGA	uc003wla.3	-	51	13545_13546	c.13326_13327delTC	c.(13324-13329)actcagfs	p.T4442fs	MLL3_uc003wkz.3_Frame_Shift_Del_p.T3560fs|MLL3_uc003wkx.3_Frame_Shift_Del_p.T600fs|MLL3_uc003wky.3_Frame_Shift_Del_p.T2006fs	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4442					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GCACCAGCCTGAGTCTCATAGA	0.515			N		medulloblastoma								37	177	---	---	---	---						-	151845686	GA	-	151845685	7	5	126	1	0	1	0	1	0	0	0	0	9622	1299	45	0	1440	0	MLL3	7	151845685	Frame_Shift_Del	DEL	GA	TCGA-E1-5319-01A-01D-1893-08	2359292	151845685	7292978	21	5729											
CLN8	2055	broad.mit.edu	37	chr8	1728624	1728624	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattaatccatattggacccAtaagaagactcagcagcttc	14	10	6	11	0	1	2	1	0	0	2	3	3	2	3	2	1	2	2	2	1	4	5			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr8:1728624A>C	uc003wpo.4	+	2	1057	c.752A>C	c.(751-753)cAt>cCt	p.H251P		NM_018941	NP_061764	Q9UBY8	CLN8_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) (CLN8), mRNA.	251	TLC.				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	ER-Golgi intermediate compartment membrane|endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		TATTGGACCCATAAGAAGACT	0.542													31	161					0	0	0.001786	0	0	C	1728624	A	C	1728624	3	2	126	1	0	0	0	0	1	0	0	0	3546	217	8	5	758	5	CLN8	8	1728624	Missense_Mutation	SNP	A	TCGA-E1-5319-01A-01D-1893-08		1728624	144635398	22	5730											
OR1L3	26735	broad.mit.edu	37	chr9	125437655	125437655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatagtcccaaagatgctcGtgaacttcttatcagagaaa	14	11	7	9	1	3	3	2	1	1	2	5	4	4	3	1	0	2	1	1	0	5	3	rs142972365		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr9:125437655G>A	uc011lzb.2	+	0	247	c.247G>A	c.(247-249)Gtg>Atg	p.V83M		NM_001005234	NP_001005234	Q8NH93	OR1L3_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						AAAGATGCTCGTGAACTTCTT	0.398													57	139					0	0	0.00361	0	0	A	125437655	G	A	125437655	3	1	126	1	0	0	0	0	1	0	0	0	10964	1145	40	1	249	1	OR1L3	9	125437655	Missense_Mutation	SNP	G	TCGA-E1-5319-01A-01D-1893-08		125437655	15775776	23	5731											
UCK1	83549	broad.mit.edu	37	chr9	134404915	134404915	+	Frame_Shift_Del	DEL	T	T	-																															ataggtcggcacctccaccgTtttgccctccacgatgttct																										TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr9:134404915delT	uc004cay.3	-	2	426	c.325delA	c.(325-327)acgfs	p.T109fs	UCK1_uc010mzk.3_Frame_Shift_Del_p.T100fs|UCK1_uc004cba.3_Frame_Shift_Del_p.T109fs|UCK1_uc004caz.3_Non-coding_Transcript	NM_031432	NP_113620	Q9HA47	UCK1_HUMAN	Homo sapiens uridine-cytidine kinase 1 (UCK1), transcript variant 1, mRNA.	109					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		ACCTCCACCGTTTTGCCCTCC	0.557													47	116	---	---	---	---						-	134404915	T	-	134404915	7	5	126	1	0	1	0	1	0	0	0	0	16920	1725	60	0	528	0	UCK1	9	134404915	Frame_Shift_Del	DEL	T	TCGA-E1-5319-01A-01D-1893-08	8967260	134404915	6808516	24	5732											
PPYR1	5540	broad.mit.edu	37	chr10	47087234	47087234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcaacccaacaggctggaagCccagcatctcacaggcctac	12	5	8	16	0	2	0	2	0	1	0	3	1	2	1	3	3	5	2	3	3	4	1			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr10:47087234C>T	uc001jee.3	+	2	870	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Missense_Mutation_p.P151S|PPYR1_uc021ppu.1_Missense_Mutation_p.P151S	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	151					blood circulation|digestion|feeding behavior	integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						AGGCTGGAAGCCCAGCATCTC	0.587													48	218					0	0	0.00361	0	0	T	47087234	C	T	47087234	3	4	126	1	0	0	0	0	1	0	0	0	12416	739	26	3	453	3	PPYR1	10	47087234	Missense_Mutation	SNP	C	TCGA-E1-5319-01A-01D-1893-08		47087234	88447513	25	5733											
CDH23	64072	broad.mit.edu	37	chr10	73453969	73453969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatacatcctcatcgttcgcGcagtggacgggggtgtgggc	7	9	15	10	4	1	0	1	0	0	0	4	1	2	1	1	4	1	2	1	4	2	2			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr10:73453969G>A	uc001jrx.4	+	19	2626	c.2236G>A	c.(2236-2238)Gca>Aca	p.A746T	CDH23_uc001jry.3_Missense_Mutation_p.A746T|CDH23_uc001jrz.3_Missense_Mutation_p.A746T	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	748	Cadherin 7.		V -> I.		calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CATCGTTCGCGCAGTGGACGG	0.627													10	38					0	0	0.008291	0	0	A	73453969	G	A	73453969	3	1	126	1	0	0	0	0	1	0	0	0	3108	1087	38	1	2547	1	CDH23	10	73453969	Missense_Mutation	SNP	G	TCGA-E1-5319-01A-01D-1893-08	26366735	73453969	62080778	26	5734											
SLC22A8	9376	broad.mit.edu	37	chr11	62763251	62763251	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacttgcggtgtacttggccTtggccaaggagatctccttc	6	12	11	12	1	1	1	0	0	1	1	3	2	1	1	3	4	2	1	3	4	2	5			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr11:62763251T>C	uc009yon.3	-	6	1047	c.926A>G	c.(925-927)aAg>aGg	p.K309R	SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc009yom.3_Missense_Mutation_p.K186R|SLC22A8_uc001nwo.3_Missense_Mutation_p.K309R|SLC22A8_uc010rmm.2_Missense_Mutation_p.K218R|SLC22A8_uc001nwp.2_Missense_Mutation_p.K309R	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	309					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						GTACTTGGCCTTGGCCAAGGA	0.597													77	155					0	0	0.00361	0	0	C	62763251	T	C	62763251	3	2	126	1	0	0	0	0	1	0	0	0	14460	1609	56	4	722	4	SLC22A8	11	62763251	Missense_Mutation	SNP	T	TCGA-E1-5319-01A-01D-1893-08		62763251	72243265	27	5735											
RELT	84957	broad.mit.edu	37	chr11	73102213	73102213	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttgggccttggggggttccCcgcgttccatgtcaaccatg	4	12	13	12	2	1	0	1	0	0	0	3	0	3	0	5	4	1	2	5	4	1	4			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr11:73102213C>T	uc001otv.3	+	4	477	c.312C>T	c.(310-312)ccC>ccT	p.P104P	RELT_uc001otw.3_Silent_p.P104P|RELT_uc009yto.1_Silent_p.P22P|RELT_uc001otx.3_5'Flank	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN	Homo sapiens RELT tumor necrosis factor receptor (RELT), transcript variant 2, mRNA.	104						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						GGGGGGTTCCCCGCGTTCCAT	0.587													60	98					0	0	0.00361	0	0	T	73102213	C	T	73102213	2	4	126	1	0	0	0	0	0	0	0	1	13221	610	22	3		3	RELT	11	73102213	Silent	SNP	C	TCGA-E1-5319-01A-01D-1893-08	10338962	73102213	61904303	28	5736											
SYTL2	54843	broad.mit.edu	37	chr11	85420400	85420400	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacgctgtttttttacatcCgctgctgctaagtccttaca	8	15	7	11	2	0	0	0	0	0	0	2	1	2	0	2	0	5	5	2	0	4	6			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr11:85420400C>T	uc010rth.2	-	11	2363	c.1974G>A	c.(1972-1974)gcG>gcA	p.A658A	SYTL2_uc010rtg.2_Silent_p.A659A|SYTL2_uc010rti.2_Silent_p.A634A|SYTL2_uc010rtj.2_Silent_p.A626A|SYTL2_uc001pav.3_Silent_p.A100A|SYTL2_uc010rte.2_Silent_p.A60A|SYTL2_uc001pax.3_Silent_p.A100A|SYTL2_uc001paz.3_5'UTR|SYTL2_uc001pay.3_Silent_p.A89A|SYTL2_uc001paw.3_Silent_p.A60A|SYTL2_uc009yvj.3_Non-coding_Transcript|SYTL2_uc001pbd.3_Silent_p.A956A|SYTL2_uc001pbb.3_Silent_p.A996A|SYTL2_uc001pbc.3_Silent_p.A980A|SYTL2_uc010rtf.2_Silent_p.A476A	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA.	658	C2 1.			A -> V (in Ref. 4; BAD18516).	intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	Rab GTPase binding|neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TTTTTACATCCGCTGCTGCTA	0.398													49	121					0	0	0.00361	0	0	T	85420400	C	T	85420400	2	4	126	1	0	0	0	0	0	0	0	1	15480	639	23	2		2	SYTL2	11	85420400	Silent	SNP	C	TCGA-E1-5319-01A-01D-1893-08	12318187	85420400	49586116	29	5737											
RDX	5962	broad.mit.edu	37	chr11	110104176	110104176	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttttaactcttctttggtcTtttccaagtcttcctgggct	4	21	6	10	0	4	0	0	0	4	0	6	0	6	0	2	2	1	1	2	2	2	8			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr11:110104176T>C	uc009yxy.3	-	12	1683	c.1373A>G	c.(1372-1374)aAg>aGg	p.K458R	RDX_uc009yxx.1_Non-coding_Transcript|RDX_uc009yxz.3_Missense_Mutation_p.K111R|RDX_uc009yya.3_Intron|RDX_uc001pks.3_5'UTR|RDX_uc001pkt.3_Missense_Mutation_p.K112R|RDX_uc001pku.3_Missense_Mutation_p.K458R|RDX_uc010rwe.2_Missense_Mutation_p.K322R	NM_002906	NP_002897	P35241	RADI_HUMAN	Homo sapiens radixin (RDX), mRNA.	458	Glu-rich.				actin filament capping	Golgi apparatus|cleavage furrow|cytoskeleton|extrinsic to membrane|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TTCTTTGGTCTTTTCCAAGTC	0.403													3	129					0	0	0.004672	0	0	C	110104176	T	C	110104176	3	2	126	1	0	0	0	0	1	0	0	0	13198	1609	56	4	386	4	RDX	11	110104176	Missense_Mutation	SNP	T	TCGA-E1-5319-01A-01D-1893-08	24683776	110104176	24902340	30	5738											
CD3D	915	broad.mit.edu	37	chr11	118211223	118211223	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgagagcagtgttcccacCgttccctctacccatgtgat	7	12	8	14	1	2	2	0	2	2	1	4	3	4	2	4	0	2	3	4	0	1	3			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr11:118211223C>T	uc001pss.1	-	1	278	c.141G>A	c.(139-141)acG>acA	p.T47T	CD3D_uc001pst.1_Silent_p.T47T|CD3D_uc021qrf.1_Intron	NM_000732	NP_000723	P04234	CD3D_HUMAN	Homo sapiens CD3d molecule, delta (CD3-TCR complex) (CD3D), transcript variant 1, mRNA.	47					T cell costimulation|T cell receptor signaling pathway|positive thymic T cell selection	cytoplasm|integral to membrane	protein heterodimerization activity			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		GTGTTCCCACCGTTCCCTCTA	0.458													16	46					0	0	0.007413	0	0	T	118211223	C	T	118211223	2	4	126	1	0	0	0	0	0	0	0	1	3010	639	23	2		2	CD3D	11	118211223	Silent	SNP	C	TCGA-E1-5319-01A-01D-1893-08	8107047	118211223	16795293	31	5739											
C11orf63	79864	broad.mit.edu	37	chr11	122774732	122774732	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctgtggaagcgttgccGgagtccacggacagctcttt	6	11	13	11	3	2	0	0	0	2	0	3	3	3	3	2	3	3	2	2	3	1	2			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr11:122774732G>A	uc001pym.3	+	2	741	c.444G>A	c.(442-444)ccG>ccA	p.P148P	C11orf63_uc001pyl.1_Silent_p.P148P	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	148								p.P148S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AAGCGTTGCCGGAGTCCACGG	0.532													62	117					0	0	0.00361	0	0	A	122774732	G	A	122774732	2	1	126	1	0	0	0	0	0	0	0	1	1654	1103	39	2		2	C11orf63	11	122774732	Silent	SNP	G	TCGA-E1-5319-01A-01D-1893-08	4563509	122774732	12231784	32	5740											
DDX11	1663	broad.mit.edu	37	chr12	31244796	31244796	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgcacagcgtggaggtcagCggctcccaggtgtgtgggcc	6	7	17	11	2	1	0	1	0	0	0	2	1	2	1	2	5	3	2	2	5	0	0			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr12:31244796C>T	uc001rjt.1	+	9	1484	c.1233C>T	c.(1231-1233)agC>agT	p.S411S	DDX11_uc010sjx.1_Non-coding_Transcript|DDX11_uc001rjr.1_Silent_p.S411S|DDX11_uc001rjs.1_Silent_p.S411S|DDX11_uc001rju.1_Silent_p.S89S|DDX11_uc001rjv.1_Silent_p.S411S|DDX11_uc001rjw.1_Silent_p.S385S|DDX11_uc001rjx.1_Silent_p.S89S|DDX11_uc009zjn.1_Non-coding_Transcript	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA.	411	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|RNA binding|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGGAGGTCAGCGGCTCCCAGG	0.662										Multiple Myeloma(12;0.14)			4	106					0	0	0.000602	0	0	T	31244796	C	T	31244796	2	4	126	1	0	0	0	0	0	0	0	1	4343	767	27	1		1	DDX11	12	31244796	Silent	SNP	C	TCGA-E1-5319-01A-01D-1893-08		31244796	102607099	33	5741											
AGAP2	116986	broad.mit.edu	37	chr12	58126704	58126704	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagcgtttcatgtccgcGcacagagctctggcacgagc	7	8	12	14	4	2	1	1	0	1	1	3	2	3	1	1	1	4	5	1	1	0	1			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr12:58126704G>A	uc001spq.3	-	5	1608	c.1608C>T	c.(1606-1608)tgC>tgT	p.C536C	AGAP2_uc001spp.3_Silent_p.C536C|AGAP2_uc001spr.3_Silent_p.C200C	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.	536	G domain.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TCATGTCCGCGCACAGAGCTC	0.567													7	364					0	0	0.004482	0	0	A	58126704	G	A	58126704	2	1	126	1	0	0	0	0	0	0	0	1	368	1079	38	1		1	AGAP2	12	58126704	Silent	SNP	G	TCGA-E1-5319-01A-01D-1893-08	26881908	58126704	75725191	34	5742											
LRIG3	121227	broad.mit.edu	37	chr12	59272814	59272814	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctgggtgccccacagcAgcacactccaagcgtgccat	8	5	13	15	1	0	0	0	0	0	0	1	0	1	0	4	3	5	3	4	3	1	0			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr12:59272814A>C	uc001sqr.3	-	13	2121	c.1875T>G	c.(1873-1875)gcT>gcG	p.A625A	LRIG3_uc009zqh.3_Silent_p.A565A|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	625	Ig-like C2-type 2.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GCCCCACAGCAGCACACTCCA	0.587			T	ROS1	NSCLC								13	39					0	0	0.001855	0	0	C	59272814	A	C	59272814	2	2	126	1	0	0	0	0	0	0	0	1	8946	175	7	5		5	LRIG3	12	59272814	Silent	SNP	A	TCGA-E1-5319-01A-01D-1893-08	1146110	59272814	74579081	35	5743											
COQ5	84274	broad.mit.edu	37	chr12	120966932	120966932	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccatagagcacagctccCgggggccgccatcttggtag	7	7	13	14	2	1	1	0	0	1	1	3	1	3	1	4	3	2	4	4	3	2	3			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr12:120966932C>A	uc001tyn.3	-	0	33	c.13G>T	c.(13-15)Ggg>Tgg	p.G5W	COQ5_uc010szj.2_Missense_Mutation_p.G5W	NM_032314	NP_115690	Q5HYK3	COQ5_HUMAN	Homo sapiens coenzyme Q5 homolog, methyltransferase (S. cerevisiae) (COQ5), nuclear gene encoding mitochondrial protein, mRNA.	5					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity	p.P4P(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCACAGCTCCCGGGGGCCGCC	0.652													15	31					1.3612e-06	1.60667e-06	0.003163	1	0	A	120966932	C	A	120966932	3	1	126	1	0	0	0	0	1	0	0	0	3748	652	23	5	998	5	COQ5	12	120966932	Missense_Mutation	SNP	C	TCGA-E1-5319-01A-01D-1893-08	61694118	120966932	12884963	36	5744											
LRRC43	254050	broad.mit.edu	37	chr12	122677545	122677545	+	Frame_Shift_Del	DEL	C	C	-																															agatccccggctctgcccgtCcccagggtaaggatggaaat																										TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr12:122677545delC	uc009zxm.3	+	6	1368	c.1343delC	c.(1342-1344)tccfs	p.S448fs	LRRC43_uc001ubw.4_Frame_Shift_Del_p.S263fs|LRRC43_uc009zxn.3_Frame_Shift_Del_p.S209fs	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	448										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CTCTGCCCGTCCCCAGGGTAA	0.577													10	36	---	---	---	---						-	122677545	C	-	122677545	7	5	126	1	0	1	0	1	0	0	0	0	9001	855	30	0	1369	0	LRRC43	12	122677545	Frame_Shift_Del	DEL	C	TCGA-E1-5319-01A-01D-1893-08	1710613	122677545	11174350	37	5745											
HTR2A	3356	broad.mit.edu	37	chr13	47409749	47409750	+	Frame_Shift_Del	DEL	AA	AA	-																															ttcgaatcgtcctgtagcccAaagactggtattggcatgga																								rs143289722		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr13:47409749_47409750delAA	uc010acr.3	-	3	1327_1328	c.638_639delTT	c.(637-639)tttfs	p.F213fs	HTR2A_uc001vbr.3_Frame_Shift_Del_p.F129fs	NM_000621	NP_000612	P28223	5HT2A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2A (HTR2A), transcript variant 1, mRNA.	213					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CCTGTAGCCCAAAGACTGGTAT	0.396													22	86	---	---	---	---						-	47409750	AA	-	47409749	7	5	126	1	0	1	0	1	0	0	0	0	7441	127	5	0	780	0	HTR2A	13	47409749	Frame_Shift_Del	DEL	AA	TCGA-E1-5319-01A-01D-1893-08		47409749	67760129	38	5746											
IL21R	50615	broad.mit.edu	37	chr16	27448929	27448929	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattccacttcatggccgaCgacattttcagtgtcaacat	10	13	7	11	2	3	0	3	0	0	0	4	2	4	0	2	1	1	1	2	1	2	5			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr16:27448929C>T	uc002dor.2	+	4	887	c.339C>T	c.(337-339)gaC>gaT	p.D113D	IL21R_uc002doq.2_Silent_p.D91D|IL21R_uc002dos.2_Silent_p.D91D	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	91					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TCATGGCCGACGACATTTTCA	0.572			T	BCL6	NHL								5	82					0	0	0.001168	0	0	T	27448929	C	T	27448929	2	4	126	1	0	0	0	0	0	0	0	1	7671	535	19	1		1	IL21R	16	27448929	Silent	SNP	C	TCGA-E1-5319-01A-01D-1893-08		27448929	62905824	39	5747											
ABCC12	94160	broad.mit.edu	37	chr16	48162529	48162529	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggttctgcaatttctttggGgtacttttcctgctggcttc	3	19	10	9	0	2	0	0	0	2	0	4	0	3	0	1	4	3	5	1	4	2	7			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr16:48162529G>A	uc002efc.1	-	8	1702	c.1356C>T	c.(1354-1356)acC>acT	p.T452T	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Silent_p.T452T	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	452						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ATTTCTTTGGGGTACTTTTCC	0.507													33	65					0	0	0.001786	0	0	A	48162529	G	A	48162529	2	1	126	1	0	0	0	0	0	0	0	1	52	1219	43	3		3	ABCC12	16	48162529	Silent	SNP	G	TCGA-E1-5319-01A-01D-1893-08	20713600	48162529	42192224	40	5748											
MMP15	4324	broad.mit.edu	37	chr16	58072238	58072238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgaaagccaacctgcggcGgcgtcggaagcgctacgccc	9	4	14	14	6	0	1	0	1	0	0	1	2	0	2	3	3	5	1	3	3	4	1	rs147283654		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr16:58072238G>A	uc002ena.3	+	2	1353	c.380G>A	c.(379-381)cGg>cAg	p.R127Q		NM_002428	NP_002419	P51511	MMP15_HUMAN	Homo sapiens matrix metallopeptidase 15 (membrane-inserted) (MMP15), mRNA.	127					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding	p.R127W(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						AACCTGCGGCGGCGTCGGAAG	0.647													48	130					0	0	0.00361	0	0	A	58072238	G	A	58072238	3	1	126	1	0	0	0	0	1	0	0	0	9654	1116	39	2	390	2	MMP15	16	58072238	Missense_Mutation	SNP	G	TCGA-E1-5319-01A-01D-1893-08	9909709	58072238	32282515	41	5749											
PSKH1	5681	broad.mit.edu	37	chr16	67961376	67961376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccatgaagaacctgcaccGctccatatcccagaacctcc	12	7	5	17	1	0	3	0	1	0	2	4	3	4	3	7	0	3	2	7	0	4	1			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr16:67961376G>A	uc002euv.3	+	2	1276	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H		NM_006742	NP_006733	P11801	KPSH1_HUMAN	Homo sapiens protein serine kinase H1 (PSKH1), mRNA.	369						Golgi apparatus|endoplasmic reticulum membrane|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		AACCTGCACCGCTCCATATCC	0.607													48	83					0	0	0.00361	0	0	A	67961376	G	A	67961376	3	1	126	1	0	0	0	0	1	0	0	0	12664	1087	38	1	1112	1	PSKH1	16	67961376	Missense_Mutation	SNP	G	TCGA-E1-5319-01A-01D-1893-08	9889138	67961376	22393377	42	5750											
TYK2	7297	broad.mit.edu	37	chr19	10479066	10479067	+	Frame_Shift_Del	DEL	AA	AA	-																															gcctgagcatcgaagagggcAaagagattgaagcaaggagg																										TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr19:10479066_10479067delAA	uc002moc.4	-	3	599_600	c.221_222delTT	c.(220-222)tttfs	p.F74fs	TYK2_uc010dxe.3_Intron|TYK2_uc002mod.2_Frame_Shift_Del_p.F74fs	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	74	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CGAAGAGGGCAAAGAGATTGAA	0.54													48	110	---	---	---	---						-	10479067	AA	-	10479066	7	5	126	1	0	1	0	1	0	0	0	0	16807	127	5	0	3429	0	TYK2	19	10479066	Frame_Shift_Del	DEL	AA	TCGA-E1-5319-01A-01D-1893-08		10479066	48649917	43	5751											
LGALS13	29124	broad.mit.edu	37	chr19	40097866	40097868	+	In_Frame_Del	DEL	AAG	AAG	-																															catttttcctcttgtagataAaggtcaatggcatacgcatt																										TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr19:40097866_40097868delAAG	uc002omb.3	+	3	347_349	c.307_309delAAG	c.(307-309)aagdel	p.K103del		NM_013268	NP_037400	Q9UHV8	PP13_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 13 (LGALS13), mRNA.	103	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			CTTGTAGATAAAGGTCAATGGCA	0.458													31	40	---	---	---	---						-	40097868	AAG	-	40097866	7	5	126	1	0	1	0	1	0	0	0	0	8740	15	1	0	321	0	LGALS13	19	40097866	In_Frame_Del	DEL	AAG	TCGA-E1-5319-01A-01D-1893-08	29618800	40097866	19031117	44	5752											
CIC	23152	broad.mit.edu	37	chr19	42796905	42796906	+	Frame_Shift_Del	DEL	TG	TG	-																															cccccaagcctggtctacacTgtggccaccagcacaacccc																										TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr19:42796905_42796906delTG	uc002otf.1	+	13	3403_3404	c.3363_3364delTG	c.(3361-3366)actgtgfs	p.T1121fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1121	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGGTCTACACTGTGGCCACCAG	0.668			"Mis, F, S"		oligodendroglioma								26	73	---	---	---	---						-	42796906	TG	-	42796905	7	5	126	1	0	1	0	1	0	0	0	0	3424	1567	55	0	3417	0	CIC	19	42796905	Frame_Shift_Del	DEL	TG	TCGA-E1-5319-01A-01D-1893-08	2699039	42796905	16332078	45	5753											
TGIF2	60436	broad.mit.edu	37	chr20	35236193	35236193	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgtcatttggggagttttgCcattacgagggttcttggga	6	15	15	5	1	2	0	1	0	1	0	2	3	2	2	1	4	2	2	1	4	1	6			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr20:35236193C>T	uc002xfo.3	+	2	384	c.268C>T	c.(268-270)Cca>Tca	p.P90S	TGIF2_uc002xfs.3_Missense_Mutation_p.P64S|TGIF2_uc002xfq.3_Missense_Mutation_p.P64S|TGIF2_uc002xft.3_Non-coding_Transcript|TGIF2_uc002xfr.3_Missense_Mutation_p.P64S	NM_001199535	NP_001186464	Q9GZN2	TGIF2_HUMAN	Homo sapiens TGIF2-C20orf24 readthrough (TGIF2-C20ORF24), mRNA.	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GGGAGTTTTGCCATTACGAGG	0.393													4	148					0	0	0.000248	0	0	T	35236193	C	T	35236193	3	4	126	1	0	0	0	0	1	0	0	0	15823	739	26	3		3	TGIF2	20	35236193	Missense_Mutation	SNP	C	TCGA-E1-5319-01A-01D-1893-08		35236193	27789327	46	5754											
STAU1	6780	broad.mit.edu	37	chr20	47732387	47732387	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccaactcagacagcaacttTaagatgttcagcgcagccta	13	9	7	12	1	2	2	2	0	0	2	3	2	3	2	2	0	5	3	2	0	4	4			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr20:47732387T>C	uc002xud.3	-	12	2061	c.1650A>G	c.(1648-1650)ttA>ttG	p.L550L	STAU1_uc002xua.3_Silent_p.L469L|STAU1_uc002xub.3_Silent_p.L475L|STAU1_uc002xuc.3_Silent_p.L469L|STAU1_uc002xue.3_Silent_p.L469L|STAU1_uc002xuf.3_Silent_p.L475L|STAU1_uc002xug.3_Silent_p.L550L	NM_017453	NP_059348	O95793	STAU1_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA.	550						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			ACAGCAACTTTAAGATGTTCA	0.512													10	217					0	0	0.008291	0	0	C	47732387	T	C	47732387	2	2	126	1	0	0	0	0	0	0	0	1	15271	1751	61	3		3	STAU1	20	47732387	Silent	SNP	T	TCGA-E1-5319-01A-01D-1893-08	12496194	47732387	15293133	47	5755											
GGT1	2678	broad.mit.edu	37	chr22	25023484	25023484	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactcacccgatctcctactAcaagcccgagttctacacgc	10	8	5	18	3	3	0	1	0	2	0	4	2	3	0	3	0	4	1	3	0	4	4			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr22:25023484A>G	uc003aan.1	+	11	1593	c.1106A>G	c.(1105-1107)tAc>tGc	p.Y369C	GGT1_uc003aas.1_Missense_Mutation_p.Y369C|GGT1_uc003aat.1_Missense_Mutation_p.Y369C|GGT1_uc003aau.2_Missense_Mutation_p.Y369C|GGT1_uc003aav.2_Missense_Mutation_p.Y369C|GGT1_uc003aaw.2_Missense_Mutation_p.Y369C|GGT1_uc003aax.2_Missense_Mutation_p.Y369C|GGT1_uc003aay.1_Missense_Mutation_p.Y25C	NM_013430	NP_038347	P19440	GGT1_HUMAN	Homo sapiens gamma-glutamyltransferase 1 (GGT1), transcript variant 3, mRNA.	369					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	ATCTCCTACTACAAGCCCGAG	0.632													3	105					0	0	0.000248	0	0	G	25023484	A	G	25023484	3	3	126	1	0	0	0	0	1	0	0	0	6361	391	14	3	1136	3	GGT1	22	25023484	Missense_Mutation	SNP	A	TCGA-E1-5319-01A-01D-1893-08		25023484	26281082	48	5756											
SSTR3	6753	broad.mit.edu	37	chr22	37603800	37603800	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggccgaggaggcattctcagGttctgaggtcgtggacaccg	7	8	16	10	3	2	1	1	1	2	0	4	4	2	3	2	6	0	2	2	6	0	2			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr22:37603800G>T	uc003ara.3	-	1	105	c.43C>A	c.(43-45)Cct>Act	p.P15T	SSTR3_uc003arb.3_Missense_Mutation_p.P15T|SSTR3_uc021wos.1_Missense_Mutation_p.P15T	NM_001051	NP_001042	P32745	SSR3_HUMAN	Homo sapiens somatostatin receptor 3 (SSTR3), mRNA.	15					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						GCATTCTCAGGTTCTGAGGTC	0.632													20	46					5.26018e-13	6.31221e-13	0.001882	1	0	T	37603800	G	T	37603800	3	4	126	1	0	0	0	0	1	0	0	0	15198	1261	44	5	1217	5	SSTR3	22	37603800	Missense_Mutation	SNP	G	TCGA-E1-5319-01A-01D-1893-08	12580316	37603800	13700766	49	5757											
FRMPD4	9758	broad.mit.edu	37	chrX	12735805	12735805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaagagcagaccgagttcCcggcctccaagacccccgct	10	4	10	17	3	0	4	0	0	0	4	2	5	2	4	6	1	1	3	6	1	2	1			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:12735805C>T	uc004cuz.2	+	15	3366	c.2860C>T	c.(2860-2862)Ccg>Tcg	p.P954S	FRMPD4_uc011mij.2_Missense_Mutation_p.P946S	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	954					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GACCGAGTTCCCGGCCTCCAA	0.607													7	248					0	0	0.001984	0	0	T	12735805	C	T	12735805	3	4	126	1	0	0	0	0	1	0	0	0	6059	623	22	3	2922	3	FRMPD4	23	12735805	Missense_Mutation	SNP	C	TCGA-E1-5319-01A-01D-1893-08		12735805	142534755	50	5758											
SRPX	8406	broad.mit.edu	37	chrX	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-																															gctgcggctgggcgggacgcGcagcagcagcagcagcagca																								rs72445954		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:38079976_38079978delGCA	uc004ddy.2	-	0	200_202	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	SRPX_uc011mki.2_In_Frame_Del_p.L23del|SRPX_uc004ddz.2_In_Frame_Del_p.L23del|SRPX_uc011mkh.2_In_Frame_Del_p.L23del	NM_006307	NP_006298	P78539	SRPX_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked (SRPX), transcript variant 1, mRNA.	23			Missing.		cell adhesion	cell surface|membrane		p.L23delL(4)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	9	---	---	---	---						-	38079978	GCA	-	38079976	7	5	126	1	0	1	0	1	0	0	0	0	15163	1087	38	0	1364	0	SRPX	23	38079976	In_Frame_Del	DEL	GCA	TCGA-E1-5319-01A-01D-1893-08	25344171	38079976	117190584	51	5759											
RPGR	6103	broad.mit.edu	37	chrX	38145181	38145192	+	In_Frame_Del	DEL	TCCCCTTCCACT	TCCCCTTCCACT	-																															ctccttcctccccttccaccTccccttccacttccccttcc																								rs144299434	byFrequency	TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:38145181_38145192delTCCCCTTCCACT	uc004ded.1	-	14	3228_3239	c.3060_3071delAGTGGAAGGGGA	c.(3058-3072)gaagtggaaggggag>gag	p.1020_1024EVEGE>E	RPGR_uc004deb.3_Intron|RPGR_uc004dea.3_Intron|RPGR_uc004dec.3_Intron	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant C, mRNA.	810					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						cccttccacctccccttccacttccccttcct	0.575													7	9	---	---	---	---						-	38145192	TCCCCTTCCACT	-	38145181	7	5	126	1	0	1	0	1	0	0	0	0	13548	1551	54	0	950	0	RPGR	23	38145181	In_Frame_Del	DEL	TCCCCTTCCACT	TCGA-E1-5319-01A-01D-1893-08	65205	38145181	117125379	52	5760											
MAGIX	79917	broad.mit.edu	37	chrX	49022446	49022446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agatcgcagcccagatcctgGagggccggaggtaacggggt	9	5	17	10	3	0	2	0	0	0	2	2	4	1	4	3	6	2	2	3	6	1	1			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:49022446G>A	uc010nin.1	+	5	760	c.713G>A	c.(712-714)gGa>gAa	p.G238E	MAGIX_uc004dmt.2_Missense_Mutation_p.G157E|MAGIX_uc010nio.1_Missense_Mutation_p.G162E|MAGIX_uc004dmu.2_Missense_Mutation_p.G179E|MAGIX_uc004dmw.2_Missense_Mutation_p.G166E	NM_024859	NP_079135	Q9H6Y5	MAGIX_HUMAN	Homo sapiens MAGI family member, X-linked (MAGIX), transcript variant 1, mRNA.	238																	CCAGATCCTGGAGGGCCGGAG	0.617													29	68					0	0	0.001786	0	0	A	49022446	G	A	49022446	3	1	126	1	0	0	0	0	1	0	0	0	9193	1174	41	3	775	3	MAGIX	23	49022446	Missense_Mutation	SNP	G	TCGA-E1-5319-01A-01D-1893-08	10877265	49022446	106248114	53	5761											
DGKK	139189	broad.mit.edu	37	chrX	50213438	50213438	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggctggttctggggtcggTtctgtgtacagttctgtggc	2	15	17	7	1	3	0	0	0	3	0	4	0	3	0	0	6	1	5	0	6	1	4			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:50213438T>C	uc010njr.2	-	0	284	c.240A>G	c.(238-240)gaA>gaG	p.E80E		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	80	33 X 4 AA approximate tandem repeats of E-P-A-P.				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)					ctggggtcggTTCTGTGTACA	0.647													17	347					0	0	0.007413	0	0	C	50213438	T	C	50213438	2	2	126	1	0	0	0	0	0	0	0	1	4472	1722	60	3		3	DGKK	23	50213438	Silent	SNP	T	TCGA-E1-5319-01A-01D-1893-08	1190992	50213438	105057122	54	5762											
PCDH19	57526	broad.mit.edu	37	chrX	99662276	99662276	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttcgtcagtgatgagcacGgtaaaggacttggcactctg	9	12	12	8	2	2	2	1	2	1	0	3	3	2	3	0	3	1	3	0	3	2	4			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:99662276G>A	uc010nmz.3	-	0	2996	c.1320C>T	c.(1318-1320)acC>acT	p.T440T	PCDH19_uc004efw.4_Silent_p.T440T|PCDH19_uc004efx.4_Silent_p.T440T	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	440	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T440T(2)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGATGAGCACGGTAAAGGACT	0.577													4	147					0	0	0.000602	0	0	A	99662276	G	A	99662276	2	1	126	1	0	0	0	0	0	0	0	1	11514	1103	39	2		2	PCDH19	23	99662276	Silent	SNP	G	TCGA-E1-5319-01A-01D-1893-08	49448838	99662276	55608284	55	5763											
COL4A5	1287	broad.mit.edu	37	chrX	107816843	107816843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttatgtcatcactgccaggaCcaaagggtaatccaggatat	13	10	9	9	0	2	0	2	0	0	0	3	2	3	2	3	3	1	1	3	3	4	3			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:107816843C>T	uc022ccg.1	+	8	707	c.505C>T	c.(505-507)Cca>Tca	p.P169S	COL4A5_uc004enz.1_Missense_Mutation_p.P169S	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	169	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ACTGCCAGGACCAAAGGGTAA	0.363									Alport syndrome with Diffuse Leiomyomatosis				46	128					0	0	0.00361	0	0	T	107816843	C	T	107816843	3	4	126	1	0	0	0	0	1	0	0	0	3694	507	18	3	539	3	COL4A5	23	107816843	Missense_Mutation	SNP	C	TCGA-E1-5319-01A-01D-1893-08	8154567	107816843	47453717	56	5764											
SAGE1	55511	broad.mit.edu	37	chrX	134992597	134992597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagtcactcacaacatcCgtgaagagaagataaataac	17	7	7	10	1	2	3	2	1	0	2	3	4	3	3	1	0	3	1	1	0	6	2			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:134992597C>T	uc004ezh.3	+	15	2055	c.1888C>T	c.(1888-1890)Cgt>Tgt	p.R630C	SAGE1_uc010nry.1_Missense_Mutation_p.R599C|SAGE1_uc011mvv.2_Missense_Mutation_p.R254C	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	630								p.R630H(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TCACAACATCCGTGAAGAGAA	0.488													63	126					0	0	0.00361	0	0	T	134992597	C	T	134992597	3	4	126	1	0	0	0	0	1	0	0	0	13809	652	23	2	1946	2	SAGE1	23	134992597	Missense_Mutation	SNP	C	TCGA-E1-5319-01A-01D-1893-08	27175754	134992597	20277963	57	5765											
DDI2	84301	broad.mit.edu	37	chr1	15956989	15956989	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatatgttgctggccaacccGcatgagctgtccttgctgaa	8	11	11	11	1	0	2	0	2	0	0	1	3	1	2	3	1	4	5	3	1	3	3			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr1:15956989G>A	uc001awx.2	+	2	651	c.438G>A	c.(436-438)ccG>ccA	p.P146P	DDI2_uc001aww.3_Silent_p.P146P|RSC1A1_uc009voj.2_5'UTR	NM_032341	NP_115717	Q5TDH0	DDI2_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 2 (S. cerevisiae) (DDI2), mRNA.	146					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TGGCCAACCCGCATGAGCTGT	0.517													4	219					0	0	0.150653	0	0	A	15956989	G	A	15956989	2	1	127	1	0	0	0	0	0	0	0	1	4329	1074	38	1		1	DDI2	1	15956989	Silent	SNP	G	TCGA-E1-5322-01A-01D-1468-08		15956989	233293632	1	5766											
SESN2	83667	broad.mit.edu	37	chr1	28598956	28598956	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggcgcatcggccatggctCatcaccaaggaacacatcca	11	6	9	15	2	2	0	2	0	0	0	4	1	3	1	3	4	1	2	3	4	2	0			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr1:28598956C>T	uc001bps.3	+	3	912	c.516C>T	c.(514-516)ctC>ctT	p.L172L		NM_031459	NP_113647	P58004	SESN2_HUMAN	Homo sapiens sestrin 2 (SESN2), mRNA.	172					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCATGGCTCATCACCAAGG	0.652													55	93					0	0	0.870114	0	0	T	28598956	C	T	28598956	2	4	127	1	0	0	0	0	0	0	0	1	14125	813	29	3		3	SESN2	1	28598956	Silent	SNP	C	TCGA-E1-5322-01A-01D-1468-08	12641967	28598956	220651665	2	5767											
HRNR	388697	broad.mit.edu	37	chr1	152192510	152192510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccagatccagacccatgtCggctgtgtcccaaagattga	10	8	11	12	1	0	4	0	1	0	3	3	4	2	4	4	2	0	1	4	2	1	1			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr1:152192510C>T	uc001ezt.1	-	2	1671	c.1595G>A	c.(1594-1596)cGa>cAa	p.R532Q		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	532					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCCATGTCGGCTGTGTCC	0.567													45	377					0	0	0.840704	0	0	T	152192510	C	T	152192510	3	4	127	1	0	0	0	0	1	0	0	0	7359	884	31	2	6961	2	HRNR	1	152192510	Missense_Mutation	SNP	C	TCGA-E1-5322-01A-01D-1468-08	123593554	152192510	97058111	3	5768											
PEAR1	375033	broad.mit.edu	37	chr1	156880104	156880104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcacctgcaagaatggggGcacctgtctccctgagaatg	9	8	12	12	0	1	2	0	1	1	2	2	3	1	2	3	2	2	3	3	2	3	0			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr1:156880104G>A	uc001fqj.1	+	13	1873	c.1757G>A	c.(1756-1758)gGc>gAc	p.G586D	PEAR1_uc001fqk.1_Missense_Mutation_p.G211D	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	586	EGF-like 7.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AAGAATGGGGGCACCTGTCTC	0.632											OREG0013890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	427					0	0	0.479597	0	0	A	156880104	G	A	156880104	3	1	127	1	0	0	0	0	1	0	0	0	11712	1203	42	3	1807	3	PEAR1	1	156880104	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08	4687594	156880104	92370517	4	5769											
CR1	1378	broad.mit.edu	37	chr1	207785157	207785157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcgtctctgcactgcaCgccccagggagactggagcc	6	6	14	15	2	1	1	0	0	1	1	2	3	1	2	3	3	4	3	3	3	0	0			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr1:207785157C>T	uc001hfy.3	+	29	5221	c.5081C>T	c.(5080-5082)aCg>aTg	p.T1694M	CR1_uc001hfx.3_Missense_Mutation_p.T2144M|CR1_uc021pij.1_Missense_Mutation_p.T1694M	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1694	Sushi 26.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.A1694V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTGCACTGCACGCCCCAGGGA	0.557													5	316					0	0	0.217242	0	0	T	207785157	C	T	207785157	3	4	127	1	0	0	0	0	1	0	0	0	3840	536	19	1	6581	1	CR1	1	207785157	Missense_Mutation	SNP	C	TCGA-E1-5322-01A-01D-1468-08	50905053	207785157	41465464	5	5770											
OR2T1	26696	broad.mit.edu	37	chr1	248570073	248570073	+	Frame_Shift_Del	DEL	C	C	-																															gtgttttgatgctgctgattCctttctctgtagtccttgct																										TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr1:248570073delC	uc010pzm.2	+	0	778	c.778delC	c.(778-780)cctfs	p.P260fs		NM_030904	NP_112166	O43869	OR2T1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA.	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTGCTGATTCCTTTCTCTGT	0.507													36	166	---	---	---	---						-	248570073	C	-	248570073	7	5	127	1	0	1	0	1	0	0	0	0	11016	855	30	0	780	0	OR2T1	1	248570073	Frame_Shift_Del	DEL	C	TCGA-E1-5322-01A-01D-1468-08	40784916	248570073	680548	6	5771											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								52	105					0	0	0.870114	0	0	T	209113112	C	T	209113112	3	4	127	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-5322-01A-01D-1468-08		209113112	34086261	7	5772											
ANKZF1	55139	broad.mit.edu	37	chr2	220101063	220101063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacgctgctggagttgtgggGcatccctccaaggcctgact	6	9	14	12	1	0	1	0	1	0	0	2	3	2	2	3	4	1	4	3	4	1	1			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr2:220101063G>A	uc002vkg.3	+	13	2251	c.2077G>A	c.(2077-2079)Gca>Aca	p.A693T	ANKZF1_uc002vkh.3_Missense_Mutation_p.A483T|ANKZF1_uc002vki.3_Missense_Mutation_p.A693T	NM_018089	NP_060559	Q9H8Y5	ANKZ1_HUMAN	Homo sapiens ankyrin repeat and zinc finger domain containing 1 (ANKZF1), transcript variant 1, mRNA.	693						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGTTGTGGGGCATCCCTCCA	0.577													5	222					0	0	0.217242	0	0	A	220101063	G	A	220101063	3	1	127	1	0	0	0	0	1	0	0	0	693	1203	42	3	2127	3	ANKZF1	2	220101063	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08	10987951	220101063	23098310	8	5773											
WDR69	164781	broad.mit.edu	37	chr2	228750104	228750104	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaaacatggagaattaaaGactaagtccatagatttgct	18	10	8	5	0	0	3	0	0	0	3	1	5	1	3	1	1	2	1	1	1	7	4			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr2:228750104G>C	uc002vpn.1	+	1	157	c.78G>C	c.(76-78)aaG>aaC	p.K26N	WDR69_uc010zlw.1_Missense_Mutation_p.K11N|WDR69_uc002vpo.1_Non-coding_Transcript	NM_178821	NP_849143	Q8N136	WDR69_HUMAN	Homo sapiens WD repeat domain 69 (WDR69), mRNA.	26										breast(1)|kidney(3)|large_intestine(9)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;1.22e-10)|all cancers(144;8.11e-08)|Lung(261;0.011)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GAGAATTAAAGACTAAGTCCA	0.343													17	218					0	0	0.557998	0	0	C	228750104	G	C	228750104	3	2	127	1	0	0	0	0	1	0	0	0	17316	933	33	5	84	5	WDR69	2	228750104	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08	8649041	228750104	14449269	9	5774											
OR5H6	79295	broad.mit.edu	37	chr3	97983515	97983515	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtaaccacagaatgtttTctcttggcaacaatggcata	13	12	7	9	0	1	1	0	0	1	1	2	1	1	1	1	2	2	4	1	2	5	5			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr3:97983515T>C	uc003dsi.1	+	0	387	c.387T>C	c.(385-387)ttT>ttC	p.F129F		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAGAATGTTTTCTCTTGGCAA	0.368													26	277					0	0	0.654019	0	0	C	97983515	T	C	97983515	2	2	127	1	0	0	0	0	0	0	0	1	11163	1780	62	3		3	OR5H6	3	97983515	Silent	SNP	T	TCGA-E1-5322-01A-01D-1468-08		97983515	100038915	10	5775											
GPR128	84873	broad.mit.edu	37	chr3	100352130	100352130	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcaatccaatggcagtccGgttgtgcagtctctctctat	7	12	11	11	1	2	0	0	0	2	0	6	0	4	0	2	3	1	4	2	3	3	2	rs143646459		TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr3:100352130G>A	uc003duc.3	+	3	624	c.356G>A	c.(355-357)cGg>cAg	p.R119Q	GPR128_uc011bhc.2_5'Flank	NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	119					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ATGGCAGTCCGGTTGTGCAGT	0.313													4	95					0	0	0.150653	0	0	A	100352130	G	A	100352130	3	1	127	1	0	0	0	0	1	0	0	0	6641	1116	39	2	370	2	GPR128	3	100352130	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08	2368615	100352130	97670300	11	5776											
IFT122	55764	broad.mit.edu	37	chr3	129214370	129214370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggaagttccatgaggccGccaaactgtacaagaggagt	13	6	14	8	1	0	2	0	1	0	1	1	4	1	4	3	4	2	2	3	4	4	2			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr3:129214370G>A	uc003eml.3	+	18	2487	c.2281G>A	c.(2281-2283)Gcc>Acc	p.A761T	IFT122_uc003emm.3_Missense_Mutation_p.A710T|IFT122_uc003emn.3_Missense_Mutation_p.A651T|IFT122_uc003emo.3_Missense_Mutation_p.A599T|IFT122_uc003emp.3_Missense_Mutation_p.A560T|IFT122_uc010htc.3_Missense_Mutation_p.A702T|IFT122_uc011bky.2_Missense_Mutation_p.A501T|IFT122_uc011bla.2_Missense_Mutation_p.A483T|IFT122_uc003emr.3_Missense_Mutation_p.A462T|IFT122_uc010hte.3_Intron|IFT122_uc003ems.3_Missense_Mutation_p.A91T|IFT122_uc011bkx.1_Missense_Mutation_p.A550T|IFT122_uc010htd.1_Missense_Mutation_p.A189T	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	710					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CCATGAGGCCGCCAAACTGTA	0.512													4	125					0	0	0.150653	0	0	A	129214370	G	A	129214370	3	1	127	1	0	0	0	0	1	0	0	0	7555	1087	38	1	2355	1	IFT122	3	129214370	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08	28862240	129214370	68808060	12	5777											
WDR49	151790	broad.mit.edu	37	chr3	167223186	167223186	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattttatatctaaatttatAtcttctgatggtctgacact	11	20	4	6	0	4	2	0	2	4	0	4	2	4	2	0	1	0	0	0	1	7	9			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr3:167223186A>T	uc003fev.1	-	12	2041	c.1737T>A	c.(1735-1737)gaT>gaA	p.D579E	WDR49_uc003feu.1_Missense_Mutation_p.D404E|WDR49_uc011bpd.1_Missense_Mutation_p.D544E|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	579								p.D579Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CTAAATTTATATCTTCTGATG	0.303													3	99					0	0	0.115264	0	0	T	167223186	A	T	167223186	3	4	127	1	0	0	0	0	1	0	0	0	17299	446	16	5	368	5	WDR49	3	167223186	Missense_Mutation	SNP	A	TCGA-E1-5322-01A-01D-1468-08	38008816	167223186	30799244	13	5778											
PDE6B	5158	broad.mit.edu	37	chr4	659049	659049	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgtgcctccaggtcgcActtctcgtggctgctgagtt	3	14	11	13	2	1	1	0	1	1	0	5	1	3	1	3	2	2	4	3	2	0	3			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr4:659049A>G	uc003gap.3	+	18	2252	c.2199A>G	c.(2197-2199)gcA>gcG	p.A733A	PDE6B_uc003gao.4_Silent_p.A733A|PDE6B_uc011buy.2_Silent_p.A454A|PDE6B_uc011buz.2_Silent_p.A165A	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	733					GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						TCCAGGTCGCACTTCTCGTGG	0.627													11	43					0	0	0.575678	0	0	G	659049	A	G	659049	2	3	127	1	0	0	0	0	0	0	0	1	11646	146	6	3		3	PDE6B	4	659049	Silent	SNP	A	TCGA-E1-5322-01A-01D-1468-08		659049	190495227	14	5779											
SLIT2	9353	broad.mit.edu	37	chr4	20597443	20597443	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacggctatacgtgcatatgCcccgaaggttacaggtaaaa	14	8	10	9	3	0	0	0	0	0	0	0	1	0	0	2	3	5	4	2	3	8	5			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr4:20597443C>T	uc003gpr.1	+	30	3510	c.3306C>T	c.(3304-3306)tgC>tgT	p.C1102C	SLIT2_uc003gps.1_Silent_p.C1094C	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1102	EGF-like 5; calcium-binding (Potential).				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CGTGCATATGCCCCGAAGGTT	0.438													5	215					0	0	0.184627	0	0	T	20597443	C	T	20597443	2	4	127	1	0	0	0	0	0	0	0	1	14740	747	26	3		3	SLIT2	4	20597443	Silent	SNP	C	TCGA-E1-5322-01A-01D-1468-08	19938394	20597443	170556833	15	5780											
LIMCH1	22998	broad.mit.edu	37	chr4	41646515	41646515	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcgctctctccacactcAggagcaccagcatgtttgac	8	11	8	14	1	2	1	1	1	1	0	5	2	3	2	2	1	2	5	2	1	0	2			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr4:41646515A>C	uc003gvz.4	+	15	2544	c.2127_splice	c.e15-2	p.E709_splice	LIMCH1_uc003gwe.4_Splice_Site_p.E324_splice|LIMCH1_uc003gvu.4_Splice_Site_p.E324_splice|LIMCH1_uc003gvv.4_Splice_Site_p.E324_splice|LIMCH1_uc003gvw.4_Splice_Site_p.E324_splice|LIMCH1_uc003gvx.4_Splice_Site_p.R312_splice|LIMCH1_uc003gvy.4_Splice_Site_p.R153_splice|LIMCH1_uc003gwa.4_Splice_Site_p.E165_splice|LIMCH1_uc011byu.2_Splice_Site_p.R158_splice|LIMCH1_uc003gwc.4_Splice_Site_p.E170_splice|LIMCH1_uc003gwd.4_Splice_Site_p.R158_splice|LIMCH1_uc011byv.2_Splice_Site_p.E75_splice	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	324					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CTCCACACTCAGGAGCACCAG	0.672											OREG0016169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	9					0	0	0.335167	0	0	C	41646515	A	C	41646515	5	2	127	1	0	0	0	0	0	0	1	0	8797	202	7	5	1036	5	LIMCH1	4	41646515	Splice_Site	SNP	A	TCGA-E1-5322-01A-01D-1468-08	21049072	41646515	149507761	16	5781											
PCDHAC2	56134	broad.mit.edu	37	chr5	140256670	140256670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttccaggtgagcgcgcGcgacgccggcgtgccgcctc	4	5	16	16	8	0	1	0	1	0	0	2	2	1	1	4	2	2	2	4	2	0	1			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr5:140256670G>A	uc003lic.2	+	0	1740	c.1613G>A	c.(1612-1614)cGc>cAc	p.R538H	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.R538H	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	552	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.R538H(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGCGCGCGCGACGCCGGC	0.692													7	212					0	0	0.27861	0	0	A	140256670	G	A	140256670	3	1	127	1	0	0	0	0	1	0	0	0	11533	1087	38	1		1	PCDHAC2	5	140256670	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08		140256670	40658590	17	5782											
FLOT1	10211	broad.mit.edu	37	chr6	30708275	30708275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacccccatctctctcacccGgatcccagcatctctcttgg	7	10	5	19	1	4	0	1	0	4	0	8	1	5	1	4	2	2	1	4	2	1	1	rs139987312	byFrequency	TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr6:30708275G>A	uc003nrm.3	-	6	732	c.568C>T	c.(568-570)Cgg>Tgg	p.R190W	FLOT1_uc011dmr.2_Missense_Mutation_p.R142W	NM_005803	NP_005794	O75955	FLOT1_HUMAN	Homo sapiens flotillin 1 (FLOT1), mRNA.	190						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						TCTCTCACCCGGATCCCAGCA	0.532													101	138					0	0	0.870114	0	0	A	30708275	G	A	30708275	3	1	127	1	0	0	0	0	1	0	0	0	5936	1115	39	2	743	2	FLOT1	6	30708275	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08		30708275	140406792	18	5783											
FOXP4	116113	broad.mit.edu	37	chr6	41554783	41554783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctggccttccagcagcagCtcctgcaaatgcaacagttg	10	8	10	13	0	0	0	0	0	0	0	2	0	2	0	3	1	7	7	3	1	2	2			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr6:41554783C>T	uc003oql.3	+	5	1005	c.547C>T	c.(547-549)Ctc>Ttc	p.L183F	FOXP4_uc003oqm.3_Missense_Mutation_p.L181F|FOXP4_uc003oqn.3_Missense_Mutation_p.L183F	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN	Homo sapiens forkhead box P4 (FOXP4), transcript variant 1, mRNA.	183	Gln-rich.				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCAGCAGCAGCTCCTGCAAAT	0.662											OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	53					0	0	0.307466	0	0	T	41554783	C	T	41554783	3	4	127	1	0	0	0	0	1	0	0	0	6029	797	28	3	565	3	FOXP4	6	41554783	Missense_Mutation	SNP	C	TCGA-E1-5322-01A-01D-1468-08	10846508	41554783	129560284	19	5784											
LAMA2	3908	broad.mit.edu	37	chr6	129475728	129475728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatctgagtttgaatatacGtggaaagtacattggagggg	14	11	13	3	1	1	2	0	2	1	0	1	4	1	4	0	4	2	2	0	4	6	5			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr6:129475728G>A	uc021zfb.1	+	7	1211	c.1106G>A	c.(1105-1107)cGt>cAt	p.R369H	LAMA2_uc003qbn.3_Missense_Mutation_p.R369H|LAMA2_uc003qbo.3_Missense_Mutation_p.R369H	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	369	Laminin EGF-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.R369L(2)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTGAATATACGTGGAAAGTAC	0.388													81	107					0	0	0.870114	0	0	A	129475728	G	A	129475728	3	1	127	1	0	0	0	0	1	0	0	0	8606	1145	40	1	1136	1	LAMA2	6	129475728	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08	87920945	129475728	41639339	20	5785											
MACC1	346389	broad.mit.edu	37	chr7	20198861	20198861	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggatatatttgggtccatAaattccaattgaggtggttt	11	16	10	4	0	0	1	0	1	0	0	2	2	2	2	2	4	0	1	2	4	5	7			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr7:20198861A>G	uc003sus.4	-	4	1432	c.1123T>C	c.(1123-1125)Tat>Cat	p.Y375H	MACC1_uc010kug.3_Missense_Mutation_p.Y375H	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	375					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TTGGGTCCATAAATTCCAATT	0.398													66	90					0	0	0.870114	0	0	G	20198861	A	G	20198861	3	3	127	1	0	0	0	0	1	0	0	0	9143	362	13	3	1447	3	MACC1	7	20198861	Missense_Mutation	SNP	A	TCGA-E1-5322-01A-01D-1468-08		20198861	138939802	21	5786											
TBX20	57057	broad.mit.edu	37	chr7	35242048	35242048	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttttagaagagtcatacAaatggcgtcatcacagcaga	15	10	8	8	1	3	3	3	0	0	3	3	3	3	3	0	1	2	1	0	1	4	4			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr7:35242048A>C	uc011kas.2	-	7	1818	c.1338T>G	c.(1336-1338)ttT>ttG	p.F446L		NM_001077653	NP_001071121	Q9UMR3	TBX20_HUMAN	Homo sapiens T-box 20 (TBX20), transcript variant 1, mRNA.	446						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						AGAGTCATACAAATGGCGTCA	0.502													13	21					0	0	0.411799	0	0	C	35242048	A	C	35242048	3	2	127	1	0	0	0	0	1	0	0	0	15653	127	5	5	8	5	TBX20	7	35242048	Missense_Mutation	SNP	A	TCGA-E1-5322-01A-01D-1468-08	15043187	35242048	123896615	22	5787											
CSPP1	79848	broad.mit.edu	37	chr8	68028332	68028332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcagtggactcagcagcGcccttggtgaaatggtgtct	7	10	14	10	2	2	1	1	1	1	0	2	2	2	2	1	3	3	2	1	3	1	1			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr8:68028332G>A	uc003xxi.3	+	12	1592	c.1561G>A	c.(1561-1563)Gcc>Acc	p.A521T	CSPP1_uc003xxg.1_Missense_Mutation_p.A513T|CSPP1_uc003xxh.1_Non-coding_Transcript|CSPP1_uc003xxj.3_Missense_Mutation_p.A486T|CSPP1_uc003xxk.3_Missense_Mutation_p.A192T	NM_024790	NP_079066	Q1MSJ5	CSPP1_HUMAN	Homo sapiens centrosome and spindle pole associated protein 1 (CSPP1), mRNA.	521	Pro-rich.					centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ACTCAGCAGCGCCCTTGGTGA	0.443													9	244					0	0	0.335167	0	0	A	68028332	G	A	68028332	3	1	127	1	0	0	0	0	1	0	0	0	3962	1087	38	1	1611	1	CSPP1	8	68028332	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08		68028332	78335690	23	5788											
FAM120A	23196	broad.mit.edu	37	chr9	96214360	96214360	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggacgccgacaactgcctgCaccgcctctacggcggcttc	6	7	11	17	5	1	0	0	0	1	0	2	2	1	1	4	3	4	2	4	3	2	2			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr9:96214360C>A	uc004atw.3	+	0	188	c.163C>A	c.(163-165)Cac>Aac	p.H55N	FAM120AOS_uc004atp.4_5'Flank|FAM120AOS_uc004atq.4_5'Flank|FAM120AOS_uc004atn.4_5'Flank|FAM120AOS_uc004ats.4_Intron|FAM120AOS_uc004att.4_Intron|FAM120AOS_uc004atu.4_Intron|FAM120A_uc004atv.3_Missense_Mutation_p.H55N	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	Homo sapiens family with sequence similarity 120A (FAM120A), mRNA.	55						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CAACTGCCTGCACCGCCTCTA	0.736													2	2					0.0784	0.0926545	0.115264	1	0	A	96214360	C	A	96214360	3	1	127	1	0	0	0	0	1	0	0	0	5415	710	25	5	165	5	FAM120A	9	96214360	Missense_Mutation	SNP	C	TCGA-E1-5322-01A-01D-1468-08		96214360	44999071	24	5789											
SH2D3C	10044	broad.mit.edu	37	chr9	130507277	130507277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccccatgggtctttggggCacttccgggacacagctggg	5	9	14	13	1	1	0	0	0	1	0	3	1	3	1	3	5	1	2	3	5	0	2			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr9:130507277C>T	uc004bsc.3	-	6	1508	c.1366G>A	c.(1366-1368)Gcc>Acc	p.A456T	SH2D3C_uc010mxo.3_Missense_Mutation_p.A296T|SH2D3C_uc004bry.3_Missense_Mutation_p.A298T|SH2D3C_uc004brz.4_Missense_Mutation_p.A102T|SH2D3C_uc011mak.2_Missense_Mutation_p.A102T|SH2D3C_uc004bsb.3_Missense_Mutation_p.A388T|SH2D3C_uc004bsa.3_Missense_Mutation_p.A299T	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	456					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTCTTTGGGGCACTTCCGGGA	0.662													24	171					0	0	0.624587	0	0	T	130507277	C	T	130507277	3	4	127	1	0	0	0	0	1	0	0	0	14234	710	25	3	1240	3	SH2D3C	9	130507277	Missense_Mutation	SNP	C	TCGA-E1-5322-01A-01D-1468-08	34292917	130507277	10706154	25	5790											
RET	5979	broad.mit.edu	37	chr10	43609023	43609023	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggcagcattgttgggggAcacgagcctggggagccccg	6	5	20	10	2	0	0	0	0	0	0	0	3	0	2	3	6	3	3	3	6	0	2			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr10:43609023A>G	uc001jal.3	+	9	1969	c.1779A>G	c.(1777-1779)ggA>ggG	p.G593G	RET_uc001jak.1_Silent_p.G593G|RET_uc010qez.1_Silent_p.G339G	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	593			G -> E (in a colorectal cancer sample; somatic mutation).		homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.G592_G607del(2)|p.G593E(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TTGTTGGGGGACACGAGCCTG	0.642		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				7	18					0	0	0.27861	0	0	G	43609023	A	G	43609023	2	3	127	1	0	0	0	0	0	0	0	1	13235	262	10	3		3	RET	10	43609023	Silent	SNP	A	TCGA-E1-5322-01A-01D-1468-08		43609023	91925724	26	5791											
KCNMA1	3778	broad.mit.edu	37	chr10	78669755	78669755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgagtccaggacactgacgGcaaatgctgtcccacaggca	11	6	12	12	1	0	2	0	2	0	0	2	3	2	3	2	3	1	3	2	3	1	0			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr10:78669755G>A	uc001jxn.3	-	24	3293	c.3116C>T	c.(3115-3117)gCc>gTc	p.A1039V	KCNMA1_uc021ptu.1_Missense_Mutation_p.A931V|KCNMA1_uc001jxj.2_Missense_Mutation_p.A985V|KCNMA1_uc001jxk.1_Missense_Mutation_p.A657V|KCNMA1_uc009xrt.1_Missense_Mutation_p.A830V|KCNMA1_uc001jxl.1_Missense_Mutation_p.A664V|KCNMA1_uc001jxo.3_Missense_Mutation_p.A1022V|KCNMA1_uc001jxm.3_Missense_Mutation_p.A981V|KCNMA1_uc001jxq.3_Missense_Mutation_p.A1011V	NM_001161352	NP_001154824	Q12791	KCMA1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA.	1039	Segment S10.				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GACACTGACGGCAAATGCTGT	0.512													4	83					0	0	0.150653	0	0	A	78669755	G	A	78669755	3	1	127	1	0	0	0	0	1	0	0	0	8073	1203	42	3	639	3	KCNMA1	10	78669755	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08	35060732	78669755	56864992	27	5792											
CPXM2	119587	broad.mit.edu	37	chr10	125526579	125526579	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtcgatcctctgcctcccaGagcagcgtgtttaaatcagg	8	11	10	12	2	2	1	1	0	1	1	5	2	4	1	3	1	3	2	3	1	2	2			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr10:125526579G>C	uc001lhk.1	-	9	1714	c.1389C>G	c.(1387-1389)ctC>ctG	p.L463L	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	463					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CTGCCTCCCAGAGCAGCGTGT	0.522													3	238					0	0	0.115264	0	0	C	125526579	G	C	125526579	2	2	127	1	0	0	0	0	0	0	0	1	3838	929	33	5		5	CPXM2	10	125526579	Silent	SNP	G	TCGA-E1-5322-01A-01D-1468-08	46856824	125526579	10008168	28	5793											
ABTB2	25841	broad.mit.edu	37	chr11	34176285	34176285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggggatctccatggattctGttcctccgtagtacagatac	8	13	10	10	1	2	1	0	0	2	1	5	3	4	3	3	3	2	3	3	3	3	5			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr11:34176285G>A	uc001mvl.2	-	14	3154	c.2729C>T	c.(2728-2730)aCa>aTa	p.T910I		NM_145804	NP_665803	A8K6S9	A8K6S9_HUMAN	Homo sapiens ankyrin repeat and BTB (POZ) domain containing 2 (ABTB2), mRNA.	724							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CATGGATTCTGTTCCTCCGTA	0.592													91	117					0	0	0.870114	0	0	A	34176285	G	A	34176285	3	1	127	1	0	0	0	0	1	0	0	0	103	1377	48	3	360	3	ABTB2	11	34176285	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08		34176285	100830231	29	5794											
LRP4	4038	broad.mit.edu	37	chr11	46903301	46903301	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattcaattgtcttcatgccGgcgtcagcccagtatagacg	10	11	9	11	3	4	1	3	0	1	1	4	1	4	1	2	1	2	1	2	1	4	5			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr11:46903301G>A	uc001ndn.4	-	19	3009	c.2766C>T	c.(2764-2766)gcC>gcT	p.A922A		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	922					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	p.A922T(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TCTTCATGCCGGCGTCAGCCC	0.498													4	243					0	0	0.150653	0	0	A	46903301	G	A	46903301	2	1	127	1	0	0	0	0	0	0	0	1	8959	1103	39	2		2	LRP4	11	46903301	Silent	SNP	G	TCGA-E1-5322-01A-01D-1468-08	12727016	46903301	88103215	30	5795											
CTTN	2017	broad.mit.edu	37	chr11	70261803	70261803	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaataccaggggaagactgAgaagcatgcctcccagaaag	15	5	12	9	0	0	4	0	2	0	3	1	6	1	5	3	2	3	1	3	2	5	1			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr11:70261803A>G	uc001opv.4	+	6	643	c.437A>G	c.(436-438)gAg>gGg	p.E146G	CTTN_uc001opu.3_Missense_Mutation_p.E146G|CTTN_uc001opw.4_Missense_Mutation_p.E146G	NM_005231	NP_005222	Q14247	SRC8_HUMAN	Homo sapiens cortactin (CTTN), transcript variant 1, mRNA.	146						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GGGAAGACTGAGAAGCATGCC	0.532													197	325					0	0	0.870114	0	0	G	70261803	A	G	70261803	3	3	127	1	0	0	0	0	1	0	0	0	4044	304	11	4	455	4	CTTN	11	70261803	Missense_Mutation	SNP	A	TCGA-E1-5322-01A-01D-1468-08	23358502	70261803	64744713	31	5796											
CWF19L2	143884	broad.mit.edu	37	chr11	107299708	107299708	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcagagcgactccatgatGttaatctttcttcactgttc	9	15	6	11	1	4	2	2	1	2	1	6	3	5	2	1	0	1	2	1	0	1	4			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr11:107299708G>T	uc010rvp.2	-	7	1280	c.1250C>A	c.(1249-1251)aCa>aAa	p.T417K	CWF19L2_uc001pjh.4_Non-coding_Transcript|CWF19L2_uc009yxo.3_Non-coding_Transcript	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	Homo sapiens CWF19-like 2, cell cycle control (S. pombe) (CWF19L2), mRNA.	417							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		ACTCCATGATGTTAATCTTTC	0.418													39	484					2.26627e-22	2.82508e-22	0.834066	1	0	T	107299708	G	T	107299708	3	4	127	1	0	0	0	0	1	0	0	0	4072	1377	48	5	1478	5	CWF19L2	11	107299708	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08	37037905	107299708	27706808	32	5797											
LRIG3	121227	broad.mit.edu	37	chr12	59271321	59271321	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccatccgtcatcgtctaaCgatggggctgtcatctgagg	7	10	12	12	3	4	1	2	1	2	0	6	2	5	1	2	3	1	1	2	3	1	1			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr12:59271321C>T	uc001sqr.3	-	14	2643	c.2397G>A	c.(2395-2397)tcG>tcA	p.S799S	LRIG3_uc009zqh.3_Silent_p.S739S|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	799						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CATCGTCTAACGATGGGGCTG	0.562			T	ROS1	NSCLC								47	68					0	0	0.870114	0	0	T	59271321	C	T	59271321	2	4	127	1	0	0	0	0	0	0	0	1	8946	523	19	1		1	LRIG3	12	59271321	Silent	SNP	C	TCGA-E1-5322-01A-01D-1468-08		59271321	74580574	33	5798											
NEDD1	121441	broad.mit.edu	37	chr12	97331097	97331097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagagaagcacctgccacgtCcattgccacagttctaccac	11	7	7	16	1	1	1	0	0	1	1	2	2	2	1	5	0	4	2	5	0	2	3			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr12:97331097C>T	uc001tew.3	+	7	1210	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F	NEDD1_uc001teu.4_Missense_Mutation_p.S348F|NEDD1_uc001tev.4_Missense_Mutation_p.S348F|NEDD1_uc010svc.2_Missense_Mutation_p.S259F|NEDD1_uc001tex.3_Missense_Mutation_p.S259F	NM_001135175	NP_001128649	Q8NHV4	NEDD1_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 1 (NEDD1), transcript variant 1, mRNA.	348					G2/M transition of mitotic cell cycle|cell division|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						CCTGCCACGTCCATTGCCACA	0.428													6	266					0	0	0.248553	0	0	T	97331097	C	T	97331097	3	4	127	1	0	0	0	0	1	0	0	0	10309	855	30	3	1094	3	NEDD1	12	97331097	Missense_Mutation	SNP	C	TCGA-E1-5322-01A-01D-1468-08	38059776	97331097	36520798	34	5799											
NALCN	259232	broad.mit.edu	37	chr13	101763560	101763560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaatgatccgctcagcatgCgctgtcgggtgcaagctcta	9	9	11	12	3	2	1	1	1	1	0	4	1	3	1	1	1	4	5	1	1	3	1			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr13:101763560C>T	uc001vox.1	-	18	2399	c.2210G>A	c.(2209-2211)cGc>cAc	p.R737H		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	737						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTCAGCATGCGCTGTCGGGT	0.468													5	260					0	0	0.217242	0	0	T	101763560	C	T	101763560	3	4	127	1	0	0	0	0	1	0	0	0	10148	768	27	1	3110	1	NALCN	13	101763560	Missense_Mutation	SNP	C	TCGA-E1-5322-01A-01D-1468-08		101763560	13406318	35	5800											
TNRC6A	27327	broad.mit.edu	37	chr16	24826581	24826581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caataggagatggctggccaCgtgccaaatcgcctaacggc	11	6	12	12	3	0	1	0	0	0	1	1	2	0	1	3	4	2	1	3	4	4	2			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr16:24826581C>T	uc002dmm.3	+	18	4900	c.4786C>T	c.(4786-4788)Cgt>Tgt	p.R1596C	TNRC6A_uc010bxs.3_Missense_Mutation_p.R1343C|TNRC6A_uc002dmn.3_Missense_Mutation_p.R1294C|TNRC6A_uc002dmo.3_Missense_Mutation_p.R1235C|TNRC6A_uc002dmp.3_Missense_Mutation_p.R197C|TNRC6A_uc002dmq.3_Missense_Mutation_p.R263C	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	1596					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGGCTGGCCACGTGCCAAATC	0.448													58	88					0	0	0.870114	0	0	T	24826581	C	T	24826581	3	4	127	1	0	0	0	0	1	0	0	0	16337	536	19	1	4860	1	TNRC6A	16	24826581	Missense_Mutation	SNP	C	TCGA-E1-5322-01A-01D-1468-08		24826581	65528172	36	5801											
FTO	79068	broad.mit.edu	37	chr16	53907734	53907734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaccaacactgtgttttggCcggttcacaacctcggttta	8	12	8	13	2	1	0	1	0	0	0	2	0	1	0	4	3	2	3	4	3	3	5			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr16:53907734C>T	uc002ehr.3	+	4	1154	c.932C>T	c.(931-933)gCc>gTc	p.A311V	FTO_uc010vha.2_Missense_Mutation_p.A15V	NM_001080432	NP_001073901	Q9C0B1	FTO_HUMAN	Homo sapiens fat mass and obesity associated (FTO), mRNA.	311	Fe2OG dioxygenase domain.				DNA dealkylation involved in DNA repair|RNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TGTGTTTTGGCCGGTTCACAA	0.383													4	225					0	0	0.150653	0	0	T	53907734	C	T	53907734	3	4	127	1	0	0	0	0	1	0	0	0	6086	739	26	3	950	3	FTO	16	53907734	Missense_Mutation	SNP	C	TCGA-E1-5322-01A-01D-1468-08	29081153	53907734	36447019	37	5802											
DPH1	1801	broad.mit.edu	37	chr17	1936713	1936713	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgcttgagcgggggcaccgGcaggccctgaaaagggatcc	9	5	16	11	2	0	2	0	2	0	0	1	3	1	3	3	5	2	3	3	5	2	1			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr17:1936713G>A	uc010vqs.2	+	0	27	c.21G>A	c.(19-21)cgG>cgA	p.R7R	DPH1_uc002fts.3_Intron|DPH1_uc002ftt.3_Intron|DPH1_uc010cjx.3_Intron	NM_001383	NP_001374	Q9BZG8	DPH1_HUMAN	Homo sapiens DPH1 homolog (S. cerevisiae) (DPH1), mRNA.	0			A -> V (in breast and ovarian cancer).		peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						gggggcaccggcaggccctga	0.483													3	54					0	0	0.115264	0	0	A	1936713	G	A	1936713	2	1	127	1	0	0	0	0	0	0	0	1	4719	1218	42	3		3	DPH1	17	1936713	Silent	SNP	G	TCGA-E1-5322-01A-01D-1468-08		1936713	79258497	38	5803											
TP53	7157	broad.mit.edu	37	chr17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatgtgctgtgactgcttgTagatggccatggcgcggacg	6	11	15	9	3	1	2	1	1	0	1	1	3	1	3	1	3	2	3	1	3	1	2	rs148924904		TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr17:7578442T>C	uc002gim.2	-	4	682	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_uc002gig.1_Missense_Mutation_p.Y163C|TP53_uc002gih.3_Missense_Mutation_p.Y163C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y31C|TP53_uc010cnf.1_Missense_Mutation_p.Y31C|TP53_uc002gii.1_Missense_Mutation_p.Y31C|TP53_uc010cni.1_Missense_Mutation_p.Y163C|TP53_uc010cnh.1_Missense_Mutation_p.Y163C|TP53_uc002gij.2_Missense_Mutation_p.Y163C|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.Y70C|TP53_uc002gio.2_Missense_Mutation_p.Y31C|TP53_uc010vug.2_Missense_Mutation_p.Y124C	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	163	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y163C(246)|p.Y163N(20)|p.Y163H(17)|p.Y163S(12)|p.Y31C(12)|p.Y70C(12)|p.I162F(10)|p.0?(8)|p.Y163*(7)|p.I162V(5)|p.I162S(5)|p.I162N(4)|p.I162I(4)|p.I162M(3)|p.Y163fs*1(3)|p.Y163D(3)|p.Y163Y(3)|p.V157_C176del20(2)|p.Y163_Q165delYKQ(2)|p.P151_V173del23(2)|p.Y163fs*7(2)|p.R156_I162delRVRAMAI(2)|p.I162_Y163delIY(2)|p.I162fs*19(2)|p.Y163fs*14(2)|p.A159_Q167delAMAIYKQSQ(2)|p.I162_Y163>N(1)|p.S149fs*72(1)|p.I162fs*8(1)|p.Y31S(1)|p.Y70S(1)|p.I162fs*10(1)|p.V157_I162delVRAMAI(1)|p.Y163fs*18(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)		TGACTGCTTGTAGATGGCCAT	0.622		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)			129	20					0	0	0.870114	0	0	C	7578442	T	C	7578442	3	2	127	1	0	0	0	0	1	0	0	0	16378	1638	57	3	810	3	TP53	17	7578442	Missense_Mutation	SNP	T	TCGA-E1-5322-01A-01D-1468-08	5641729	7578442	73616768	39	5804											
GLP2R	9340	broad.mit.edu	37	chr17	9757822	9757822	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtgttcaggtggatcgttAtgccttgctgtcaaccttgc	5	15	11	10	1	2	0	2	0	0	0	3	1	2	1	2	2	4	3	2	2	2	4			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr17:9757822A>T	uc002gmd.1	+	4	515	c.515A>T	c.(514-516)tAt>tTt	p.Y172F		NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	172					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	GTGGATCGTTATGCCTTGCTG	0.552													99	825					0	0	0.870114	0	0	T	9757822	A	T	9757822	3	4	127	1	0	0	0	0	1	0	0	0	6453	449	16	5	533	5	GLP2R	17	9757822	Missense_Mutation	SNP	A	TCGA-E1-5322-01A-01D-1468-08	2179380	9757822	71437388	40	5805											
NEK8	284086	broad.mit.edu	37	chr17	27065006	27065006	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcacgcgctctgggcgtctCatcctgtgggaggtgagcag	5	9	16	11	3	3	1	2	1	2	0	5	2	4	2	1	3	1	2	1	3	0	0			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr17:27065006C>T	uc002hcp.3	+	6	1059	c.1059C>T	c.(1057-1059)ctC>ctT	p.L353L		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 8 (NEK8), mRNA.	353						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CTGGGCGTCTCATCCTGTGGG	0.701													40	55					0	0	0.840704	0	0	T	27065006	C	T	27065006	2	4	127	1	0	0	0	0	0	0	0	1	10330	813	29	3		3	NEK8	17	27065006	Silent	SNP	C	TCGA-E1-5322-01A-01D-1468-08	17307184	27065006	54130204	41	5806											
WNT9B	7484	broad.mit.edu	37	chr17	44953783	44953783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaatgaggccttgggccGcctagagctgtgggcccctg	6	7	14	14	1	0	2	0	1	0	1	0	2	0	2	6	3	1	1	6	3	2	2	rs149931425	by1000genomes	TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr17:44953783G>A	uc002ikw.1	+	3	810	c.773G>A	c.(772-774)cGc>cAc	p.R258H	WNT9B_uc002ikx.1_Missense_Mutation_p.R258H	NM_003396	NP_003387	O14905	WNT9B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 9B (WNT9B), mRNA.	258					Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|extracellular matrix structural constituent			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GCCTTGGGCCGCCTAGAGCTG	0.642													52	80					0	0	0.870114	0	0	A	44953783	G	A	44953783	3	1	127	1	0	0	0	0	1	0	0	0	17396	1087	38	1	787	1	WNT9B	17	44953783	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08	17888777	44953783	36241427	42	5807											
MAP2K6	5608	broad.mit.edu	37	chr17	67513026	67513026	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatttagactccaaggcttgCatttctattggaaatcaggt	11	14	9	7	0	2	1	1	0	1	1	3	3	3	2	1	3	1	2	1	3	4	6			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr17:67513026C>A	uc002jij.3	+	2	402	c.114C>A	c.(112-114)tgC>tgA	p.C38*	MAP2K6_uc002jii.3_Nonsense_Mutation_p.C38*|MAP2K6_uc002jik.3_Nonsense_Mutation_p.C68*	NM_002758	NP_002749	P52564	MP2K6_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 6 (MAP2K6), mRNA.	38					DNA damage induced protein phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|cell cycle arrest|innate immune response|muscle cell differentiation|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.C38C(2)		central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					CCAAGGCTTGCATTTCTATTG	0.363													4	295					0.184627	0.210014	0.184627	1	0	A	67513026	C	A	67513026	4	1	127	1	0	0	0	0	0	1	0	0	9241	718	25	5	124	5	MAP2K6	17	67513026	Nonsense_Mutation	SNP	C	TCGA-E1-5322-01A-01D-1468-08	22559243	67513026	13682184	43	5808											
NLRP12	91662	broad.mit.edu	37	chr19	54314485	54314485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcccctaggcgcgcattgCggtcttccatgagccggaat	7	10	11	13	4	1	1	0	1	1	0	3	2	3	2	4	3	2	1	4	3	2	4			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr19:54314485C>T	uc002qcj.4	-	2	648	c.428G>A	c.(427-429)cGc>cAc	p.R143H	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.R143H|NLRP12_uc002qci.4_Missense_Mutation_p.R143H|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.R143H	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	143					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCGCGCATTGCGGTCTTCCAT	0.567													4	159					0	0	0.184627	0	0	T	54314485	C	T	54314485	3	4	127	1	0	0	0	0	1	0	0	0	10474	768	27	1	2885	1	NLRP12	19	54314485	Missense_Mutation	SNP	C	TCGA-E1-5322-01A-01D-1468-08		54314485	4814498	44	5809											
IDH3B	3420	broad.mit.edu	37	chr20	2640677	2640677	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggagaaagcagcctcaccGtctcaaagactgcgtattct	12	8	10	11	2	3	2	2	0	2	2	4	3	3	2	2	1	3	2	2	1	3	2			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr20:2640677G>A	uc002wgp.3	-	9	924	c.915_splice	c.e9+1	p.T305_splice	IDH3B_uc002wgq.3_Splice_Site_p.T305_splice|IDH3B_uc002wgr.3_Splice_Site_p.T153_splice	NM_006899	NP_008830	O43837	IDH3B_HUMAN	Homo sapiens isocitrate dehydrogenase 3 (NAD+) beta (IDH3B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	305					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	NAD binding|electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14					NADH(DB00157)	CAGCCTCACCGTCTCAAAGAC	0.537													8	327					0	0	0.335167	0	0	A	2640677	G	A	2640677	5	1	127	1	0	0	0	0	0	0	1	0	7497	1159	40	1	344	1	IDH3B	20	2640677	Splice_Site	SNP	G	TCGA-E1-5322-01A-01D-1468-08		2640677	60384843	45	5810											
PDHA1	5160	broad.mit.edu	37	chrX	19369427	19369427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtgtgggcctggaggccgGcatcaaccccacagaccatc	8	6	12	15	1	1	1	1	0	0	1	2	2	1	2	5	4	1	1	5	4	1	0			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chrX:19369427G>A	uc004czg.4	+	3	465	c.320G>A	c.(319-321)gGc>gAc	p.G107D	PDHA1_uc004czh.4_Missense_Mutation_p.G145D|PDHA1_uc011mjc.2_Missense_Mutation_p.G114D|PDHA1_uc011mjd.2_Missense_Mutation_p.G107D	NM_000284	NP_000275	P08559	ODPA_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	107					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	CTGGAGGCCGGCATCAACCCC	0.507													4	183					0	0	0.150653	0	0	A	19369427	G	A	19369427	3	1	127	1	0	0	0	0	1	0	0	0	11664	1203	42	3	473	3	PDHA1	23	19369427	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08		19369427	135901133	46	5811											
ATRX	546	broad.mit.edu	37	chrX	76944356	76944356	+	Frame_Shift_Del	DEL	T	T	-																															gggtgtctataaatggaatcTttttgaaaatgattgacctg																										TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chrX:76944356delT	uc004ecp.4	-	6	781	c.549delA	c.(547-549)aaafs	p.K183fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K145fs|ATRX_uc004eco.4_5'UTR|ATRX_uc004ecr.2_Frame_Shift_Del_p.K144fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K183fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K128fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	183	ADD.		Missing (in ATRX).		DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AAATGGAATCTTTTTGAAAAT	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						157	237	---	---	---	---						-	76944356	T	-	76944356	7	5	127	1	0	1	0	1	0	0	0	0	1208	1606	56	0	7045	0	ATRX	23	76944356	Frame_Shift_Del	DEL	T	TCGA-E1-5322-01A-01D-1468-08	57574929	76944356	78326204	47	5812											
RGAG1	57529	broad.mit.edu	37	chrX	109695813	109695813	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctggagctctgtccatgccGcaaatgacagacacagcctc	10	8	9	14	1	2	2	0	1	2	1	4	3	3	3	3	1	3	2	3	1	1	0			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chrX:109695813G>A	uc004eor.2	+	2	2214	c.1968G>A	c.(1966-1968)ccG>ccA	p.P656P	RGAG1_uc011msr.1_Silent_p.P656P	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	656										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGTCCATGCCGCAAATGACAG	0.502													4	166					0	0	0.150653	0	0	A	109695813	G	A	109695813	2	1	127	1	0	0	0	0	0	0	0	1	13274	1074	38	1		1	RGAG1	23	109695813	Silent	SNP	G	TCGA-E1-5322-01A-01D-1468-08	32751457	109695813	45574747	48	5813											
MAP7D3	79649	broad.mit.edu	37	chrX	135323365	135323365	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagcctccccatgaccaTcttttttgctgataatcatc	9	13	6	13	0	2	3	1	2	1	1	4	3	3	3	4	0	2	2	4	0	1	4			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chrX:135323365T>A	uc004ezt.3	-	4	710	c.489A>T	c.(487-489)agA>agT	p.R163S	MAP7D3_uc004ezs.3_Missense_Mutation_p.R163S|MAP7D3_uc011mwc.2_Missense_Mutation_p.R145S|MAP7D3_uc010nsa.2_Missense_Mutation_p.R162S	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA.	163						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CCCATGACCATCTTTTTTGCT	0.323													84	118					0	0	0.870114	0	0	A	135323365	T	A	135323365	3	1	127	1	0	0	0	0	1	0	0	0	9269	1432	50	5	2197	5	MAP7D3	23	135323365	Missense_Mutation	SNP	T	TCGA-E1-5322-01A-01D-1468-08	25627552	135323365	19947195	49	5814											
YIPF1	54432	broad.mit.edu	37	chr1	54354658	54354658	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggaagaaaatttgcagggTtctaaaagaaaaaaataggt	20	8	11	2	0	1	2	0	0	1	2	1	4	1	3	0	3	1	2	0	3	9	4	rs2294508	by1000genomes	TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr1:54354658T>G	uc001cvu.3	-	3	323	c.-48_splice	c.e3-1		YIPF1_uc001cvv.3_Splice_Site|YIPF1_uc001cvx.3_Splice_Site|YIPF1_uc001cvy.3_Intron	NM_018982	NP_061855	Q9Y548	YIPF1_HUMAN	Homo sapiens Yip1 domain family, member 1 (YIPF1), transcript variant 1, mRNA.							integral to membrane|transport vesicle				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						ATTTGCAGGGTTCTAAAAGAA	0.398													3	30					0	0	1	0	0	G	54354658	T	G	54354658	5	3	128	1	0	0	0	0	0	0	1	0	17474	1739	60	5		5	YIPF1	1	54354658	Splice_Site	SNP	T	TCGA-EZ-7264-01A-11D-2024-08		54354658	194895963	1	5815											
FUBP1	8880	broad.mit.edu	37	chr1	78425869	78425869	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaataataagcatcttctacCtggatcaggaggagcctgct	13	10	9	9	0	3	0	1	0	2	0	3	3	3	3	2	3	4	2	2	3	4	4			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr1:78425869C>G	uc001dii.3	-	16	1665	c.1576_splice	c.e16+1	p.A526_splice	FUBP1_uc001dih.4_Splice_Site|FUBP1_uc010orm.2_Splice_Site_p.A547_splice	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	526	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CATCTTCTACCTGGATCAGGA	0.413			"F, N"		oligodendroglioma								14	14					0	0	1	0	0	G	78425869	C	G	78425869	5	3	128	1	0	0	0	0	0	0	1	0	6092	695	24	5	378	5	FUBP1	1	78425869	Splice_Site	SNP	C	TCGA-EZ-7264-01A-11D-2024-08	24071211	78425869	170824752	2	5816											
APOB	338	broad.mit.edu	37	chr2	21234703	21234703	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgttaatttcatagatgcCccagagaggccaagctctgc	10	11	10	10	0	2	2	1	0	1	2	2	3	2	2	3	1	3	3	3	1	3	4			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr2:21234703C>T	uc002red.3	-	25	5165	c.5037G>A	c.(5035-5037)ggG>ggA	p.G1679G		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1679					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCATAGATGCCCCAGAGAGGC	0.493													30	64					0	0	1	0	0	T	21234703	C	T	21234703	2	4	128	1	0	0	0	0	0	0	0	1	785	610	22	3		3	APOB	2	21234703	Silent	SNP	C	TCGA-EZ-7264-01A-11D-2024-08		21234703	221964670	3	5817											
OTOF	9381	broad.mit.edu	37	chr2	26696893	26696893	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgctgagcacgggccggatgCccatgggcacgggcatgatg	7	6	17	11	3	0	2	0	2	0	0	0	3	0	3	2	4	3	4	2	4	0	0			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr2:26696893C>G	uc002rhk.3	-	26	3501	c.3374G>C	c.(3373-3375)gGc>gCc	p.G1125A	OTOF_uc010yla.2_5'Flank|OTOF_uc002rhh.3_Missense_Mutation_p.G378A|OTOF_uc002rhi.3_Missense_Mutation_p.G435A|OTOF_uc002rhj.3_Missense_Mutation_p.G378A	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	1125					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCCGGATGCCCATGGGCAC	0.647													20	38					0	0	1	0	0	G	26696893	C	G	26696893	3	3	128	1	0	0	0	0	1	0	0	0	11303	739	26	5	2884	5	OTOF	2	26696893	Missense_Mutation	SNP	C	TCGA-EZ-7264-01A-11D-2024-08	5462190	26696893	216502480	4	5818											
ARHGEF4	50649	broad.mit.edu	37	chr2	131802995	131802995	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatgctgaatgccagcaagCagcaggtcacagggaagccc	12	4	12	13	0	1	1	1	1	0	0	1	2	1	2	3	2	6	4	3	2	3	0			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr2:131802995C>A	uc002tsa.1	+	12	2416	c.1897C>A	c.(1897-1899)Cag>Aag	p.Q633K	ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Missense_Mutation_p.Q633K|ARHGEF4_uc010fmx.1_Missense_Mutation_p.Q573K|ARHGEF4_uc002tsc.1_Missense_Mutation_p.Q176K	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 4 (ARHGEF4), transcript variant 1, mRNA.	633					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein domain specific binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		TGCCAGCAAGCAGCAGGTCAC	0.617													19	39					1.01871e-10	1.07984e-10	1	1	0	A	131802995	C	A	131802995	3	1	128	1	0	0	0	0	1	0	0	0	908	711	25	5	1939	5	ARHGEF4	2	131802995	Missense_Mutation	SNP	C	TCGA-EZ-7264-01A-11D-2024-08	105106102	131802995	111396378	5	5819											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								27	42					0	0	1	0	0	T	209113112	C	T	209113112	3	4	128	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-EZ-7264-01A-11D-2024-08	77310117	209113112	34086261	6	5820											
CPS1	1373	broad.mit.edu	37	chr2	211471549	211471549	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgttgttcgccacttgggCattgtgggtgaatgcaacat	9	13	12	7	1	0	1	0	1	0	0	1	1	0	1	1	2	2	4	1	2	3	4			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr2:211471549C>T	uc010fur.3	+	18	2176	c.2094C>T	c.(2092-2094)ggC>ggT	p.G698G	CPS1_uc002vee.4_Silent_p.G692G|CPS1_uc010fus.3_Silent_p.G241G	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	692	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GCCACTTGGGCATTGTGGGTG	0.478													37	33					0	0	1	0	0	T	211471549	C	T	211471549	2	4	128	1	0	0	0	0	0	0	0	1	3823	697	25	3		3	CPS1	2	211471549	Silent	SNP	C	TCGA-EZ-7264-01A-11D-2024-08	2358437	211471549	31727824	7	5821											
CCDC108	255101	broad.mit.edu	37	chr2	219900291	219900291	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctcccagcctttccaatgCagctcctcagccacctcaat	9	9	5	18	0	2	0	2	0	0	0	5	0	5	0	6	0	5	3	6	0	2	1			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr2:219900291C>T	uc002vjl.1	-	4	537	c.453G>A	c.(451-453)ctG>ctA	p.L151L	CCDC108_uc010zkp.1_Silent_p.L140L|CCDC108_uc010zkq.1_Silent_p.L86L|CCDC108_uc002vjn.3_Silent_p.L86L	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	151						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTTCCAATGCAGCTCCTCAG	0.502													55	71					0	0	1	0	0	T	219900291	C	T	219900291	2	4	128	1	0	0	0	0	0	0	0	1	2743	697	25	3		3	CCDC108	2	219900291	Silent	SNP	C	TCGA-EZ-7264-01A-11D-2024-08	8428742	219900291	23299082	8	5822											
ADAMTS9	56999	broad.mit.edu	37	chr3	64607885	64607885	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcagataccttggcagggtTtactgcatgcttgccatggc	8	11	12	10	0	0	1	0	0	0	1	0	1	0	1	2	3	6	5	2	3	2	5			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr3:64607885T>C	uc003dmg.3	-	17	2707	c.2675A>G	c.(2674-2676)aAa>aGa	p.K892R	ADAMTS9_uc011bfo.2_Missense_Mutation_p.K864R|ADAMTS9_uc003dmh.1_Missense_Mutation_p.K721R|ADAMTS9_uc003dmk.1_Missense_Mutation_p.K892R	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	892	TSP type-1 2.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTGGCAGGGTTTACTGCATGC	0.363													28	21					0	0	1	0	0	C	64607885	T	C	64607885	3	2	128	1	0	0	0	0	1	0	0	0	273	1841	64	3	3220	3	ADAMTS9	3	64607885	Missense_Mutation	SNP	T	TCGA-EZ-7264-01A-11D-2024-08		64607885	133414545	9	5823											
HK3	3101	broad.mit.edu	37	chr5	176310845	176310845	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccccaccgtgtcattgacaAtggcaaccacattcagctcc	10	9	6	16	1	2	1	2	1	0	0	4	1	4	1	5	1	2	2	5	1	2	2			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr5:176310845A>G	uc003mfa.3	-	14	2071	c.1979T>C	c.(1978-1980)aTt>aCt	p.I660T	HK3_uc003mez.3_Missense_Mutation_p.I216T	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	660	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTCATTGACAATGGCAACCAC	0.582													11	86					0	0	1	0	0	G	176310845	A	G	176310845	3	3	128	1	0	0	0	0	1	0	0	0	7192	101	4	3	812	3	HK3	5	176310845	Missense_Mutation	SNP	A	TCGA-EZ-7264-01A-11D-2024-08		176310845	4604415	10	5824											
ATXN1	6310	broad.mit.edu	37	chr6	16327718	16327718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcgtgtgtgggatcatcGtctggtgggggtggaggtgg	4	11	22	4	2	2	1	1	1	1	0	3	3	2	3	0	7	1	0	0	7	0	0			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr6:16327718G>A	uc003nbt.3	-	7	1795	c.824C>T	c.(823-825)aCg>aTg	p.T275M	ATXN1_uc010jpi.3_Missense_Mutation_p.T275M|ATXN1_uc010jpj.1_Intron	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	275					RNA processing|cell death|negative regulation of transcription, DNA-dependent|nuclear export	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein C-terminus binding|protein binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TGGGATCATCGTCTGGTGGGG	0.652													9	17					0	0	1	0	0	A	16327718	G	A	16327718	3	1	128	1	0	0	0	0	1	0	0	0	1209	1145	40	1	1631	1	ATXN1	6	16327718	Missense_Mutation	SNP	G	TCGA-EZ-7264-01A-11D-2024-08		16327718	154787349	11	5825											
SLC35B2	347734	broad.mit.edu	37	chr6	44224548	44224548	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgggtccatgactccggagGggcttcgggagtctccccac	5	8	14	14	2	1	1	0	1	1	0	5	3	3	3	4	5	0	1	4	5	0	1			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr6:44224548G>C	uc003oxd.3	-	1	215	c.79C>G	c.(79-81)Cct>Gct	p.P27A	SLC35B2_uc011dvt.2_5'UTR|SLC35B2_uc011dvu.2_Intron|SLC35B2_uc021yzy.1_5'Flank	NM_178148	NP_835361	Q8TB61	S35B2_HUMAN	Homo sapiens solute carrier family 35, member B2 (SLC35B2), mRNA.	27					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GACTCCGGAGGGGCTTCGGGA	0.582													6	72					0	0	1	0	0	C	44224548	G	C	44224548	3	2	128	1	0	0	0	0	1	0	0	0	14576	1232	43	5	1231	5	SLC35B2	6	44224548	Missense_Mutation	SNP	G	TCGA-EZ-7264-01A-11D-2024-08	27896830	44224548	126890519	12	5826											
THEMIS	387357	broad.mit.edu	37	chr6	128134187	128134187	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattgctcttcagtgatctcTtctaccagagtcctgactag	8	15	7	11	0	4	3	1	2	3	1	6	3	5	3	2	0	2	1	2	0	3	6			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr6:128134187T>C	uc011ebt.2	-	3	1748	c.1599A>G	c.(1597-1599)gaA>gaG	p.E533E	THEMIS_uc010kfa.3_Silent_p.E436E|THEMIS_uc021zfa.1_Silent_p.E533E|THEMIS_uc010kfb.3_Silent_p.E498E	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	533					T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CAGTGATCTCTTCTACCAGAG	0.468													45	58					0	0	1	0	0	C	128134187	T	C	128134187	2	2	128	1	0	0	0	0	0	0	0	1	15857	1606	56	4		4	THEMIS	6	128134187	Silent	SNP	T	TCGA-EZ-7264-01A-11D-2024-08	83909639	128134187	42980880	13	5827											
EPPK1	83481	broad.mit.edu	37	chr8	144945118	144945118	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcgtgcgtgttggggtcGaagaagcccttggtgtcgtc	4	13	15	9	4	1	1	0	0	1	1	5	2	1	1	1	3	2	1	1	3	2	3			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr8:144945118G>T	uc003zaa.1	-	0	2317	c.2304C>A	c.(2302-2304)ttC>ttA	p.F768L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	768						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.F768F(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTTGGGGTCGAAGAAGCCCT	0.632													5	102					1.23904e-05	1.26287e-05	1	1	0	T	144945118	G	T	144945118	3	4	128	1	0	0	0	0	1	0	0	0	5190	1049	37	5	4962	5	EPPK1	8	144945118	Missense_Mutation	SNP	G	TCGA-EZ-7264-01A-11D-2024-08		144945118	1418904	14	5828											
STOM	2040	broad.mit.edu	37	chr9	124111437	124111437	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctctgtcagagaggatCtgagaaagattcttggtgcc	9	13	11	8	0	5	3	1	1	4	3	6	6	5	4	1	2	1	0	1	2	1	3			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr9:124111437C>A	uc004blh.3	-	4	566	c.486G>T	c.(484-486)caG>caT	p.Q162H	STOM_uc004bli.3_Intron|STOM_uc011lyk.2_Missense_Mutation_p.Q111H	NM_004099	NP_004090	P27105	STOM_HUMAN	Homo sapiens stomatin (STOM), transcript variant 1, mRNA.	162					protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding			endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		CAGAGAGGATCTGAGAAAGAT	0.478													17	10					5.3912e-06	5.60262e-06	1	1	0	A	124111437	C	A	124111437	3	1	128	1	0	0	0	0	1	0	0	0	15311	912	32	5	392	5	STOM	9	124111437	Missense_Mutation	SNP	C	TCGA-EZ-7264-01A-11D-2024-08		124111437	17101994	15	5829											
JMJD1C	221037	broad.mit.edu	37	chr10	64975203	64975203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggactatttgcttgggcacGtgtataatggctctaaaaat	11	13	11	6	1	1	0	0	0	1	0	1	1	1	1	0	3	1	4	0	3	6	6			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr10:64975203G>A	uc001jmn.3	-	6	1135	c.835C>T	c.(835-837)Cgt>Tgt	p.R279C	JMJD1C_uc001jml.3_Missense_Mutation_p.R60C|JMJD1C_uc001jmm.3_5'UTR|JMJD1C_uc010qiq.2_Missense_Mutation_p.R97C|JMJD1C_uc009xpi.3_Missense_Mutation_p.R97C|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmp.1_5'UTR	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	279					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GCTTGGGCACGTGTATAATGG	0.378													59	74					0	0	1	0	0	A	64975203	G	A	64975203	3	1	128	1	0	0	0	0	1	0	0	0	7950	1145	40	1	6867	1	JMJD1C	10	64975203	Missense_Mutation	SNP	G	TCGA-EZ-7264-01A-11D-2024-08		64975203	70559544	16	5830											
PDZD7	79955	broad.mit.edu	37	chr10	102789858	102789858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttccttagcaggtatcgcGttgcggtggagcctgagtcg	5	11	15	10	4	0	1	0	1	0	0	3	2	1	2	2	3	3	4	2	3	2	4			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr10:102789858G>A	uc001ksn.3	-	1	369	c.119C>T	c.(118-120)aCg>aTg	p.T40M	PDZD7_uc021pxc.1_Missense_Mutation_p.T40M|PDZD7_uc001kso.2_Missense_Mutation_p.T40M|SFXN3_uc001ksp.3_5'Flank|SFXN3_uc010qpx.2_5'Flank	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN	Homo sapiens PDZ domain containing 7 (PDZD7), transcript variant 2, mRNA.	40						cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CAGGTATCGCGTTGCGGTGGA	0.657													35	30					0	0	1	0	0	A	102789858	G	A	102789858	3	1	128	1	0	0	0	0	1	0	0	0	11704	1145	40	1	1470	1	PDZD7	10	102789858	Missense_Mutation	SNP	G	TCGA-EZ-7264-01A-11D-2024-08	37814655	102789858	32744889	17	5831											
OR8K3	219473	broad.mit.edu	37	chr11	56086683	56086683	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagatgtaaaatatgccctaCgaaggacatggaataactta	18	9	8	6	1	0	1	0	0	0	1	0	4	0	3	1	2	3	1	1	2	9	5	rs141093095		TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr11:56086683C>T	uc010rjf.2	+	0	901	c.901C>T	c.(901-903)Cga>Tga	p.R301*		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R301*(2)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ATATGCCCTACGAAGGACATG	0.323													3	33					0	0	1	0	0	T	56086683	C	T	56086683	4	4	128	1	0	0	0	0	0	1	0	0	11244	528	19	1	903	1	OR8K3	11	56086683	Nonsense_Mutation	SNP	C	TCGA-EZ-7264-01A-11D-2024-08		56086683	78919833	18	5832											
PDZD3	79849	broad.mit.edu	37	chr11	119058335	119058335	+	Frame_Shift_Del	DEL	C	C	-																															cagctgagcgggcaggggtgCcccccggggcccggctgctg																										TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr11:119058335delC	uc001pwb.3	+	3	1305	c.781delC	c.(781-783)cccfs	p.P261fs	PDZD3_uc001pvz.3_Frame_Shift_Del_p.P195fs|PDZD3_uc010rzd.2_Frame_Shift_Del_p.P182fs|PDZD3_uc001pvy.3_Frame_Shift_Del_p.P195fs|PDZD3_uc001pwa.3_5'UTR			Q86UT5	NHRF4_HUMAN	Homo sapiens PDZ domain containing 3 (PDZD3), transcript variant 3, non-coding RNA.	261	PDZ 2.				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		GGCAGGGGTGCCCCCCGGGGC	0.552													3	5	---	---	---	---						-	119058335	C	-	119058335	7	5	128	1	0	1	0	1	0	0	0	0	11702	739	26	0	605	0	PDZD3	11	119058335	Frame_Shift_Del	DEL	C	TCGA-EZ-7264-01A-11D-2024-08	62971652	119058335	15948181	19	5833											
DPY19L2	283417	broad.mit.edu	37	chr12	63994085	63994085	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttaactaaaaagtacttaCgtggtctgaaacgcctaaga	15	12	7	7	2	1	2	0	1	1	1	1	2	1	2	1	1	4	1	1	1	8	6			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr12:63994085C>T	uc001srp.1	-	13	1540	c.1359_splice	c.e13+1	p.H453_splice	DPY19L2_uc009zqk.1_Splice_Site	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	Homo sapiens dpy-19-like 2 (C. elegans) (DPY19L2), mRNA.	453					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AAAGTACTTACGTGGTCTGAA	0.308													25	39					0	0	1	0	0	T	63994085	C	T	63994085	5	4	128	1	0	0	0	0	0	0	1	0	4741	550	19	1	956	1	DPY19L2	12	63994085	Splice_Site	SNP	C	TCGA-EZ-7264-01A-11D-2024-08		63994085	69857810	20	5834											
PRMT5	10419	broad.mit.edu	37	chr14	23390166	23390166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttatgaatagcagaacagaCtggtgctgtcacagcccact	12	9	10	10	0	1	3	1	1	0	2	1	3	1	3	1	1	4	3	1	1	4	2			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr14:23390166C>T	uc001whm.1	-	16	1952	c.1861G>A	c.(1861-1863)Gtc>Atc	p.V621I	RBM23_uc001whh.3_5'Flank|RBM23_uc001whg.3_5'Flank|RBM23_uc001whi.3_5'Flank|RBM23_uc010tne.2_5'Flank|RBM23_uc001whj.3_5'Flank|RBM23_uc001whk.1_5'Flank|PRMT5_uc001whl.1_Missense_Mutation_p.V604I|PRMT5_uc010tnf.1_Missense_Mutation_p.V515I|PRMT5_uc010tnh.1_Missense_Mutation_p.V577I|PRMT5_uc010tng.1_Missense_Mutation_p.V560I|PRMT5_uc001whn.1_Missense_Mutation_p.V450I	NM_006109	NP_006100	O14744	ANM5_HUMAN	Homo sapiens protein arginine methyltransferase 5 (PRMT5), transcript variant 1, mRNA.	621					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		GCAGAACAGACTGGTGCTGTC	0.542													15	31					0	0	1	0	0	T	23390166	C	T	23390166	3	4	128	1	0	0	0	0	1	0	0	0	12539	565	20	3	56	3	PRMT5	14	23390166	Missense_Mutation	SNP	C	TCGA-EZ-7264-01A-11D-2024-08		23390166	83959374	21	5835											
FUS	2521	broad.mit.edu	37	chr16	31200459	31200461	+	In_Frame_Del	DEL	ACA	ACA	-																															agcagaacaggataattcagAcaacaacaccatctttgtgc																										TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr16:31200459_31200461delACA	uc002ebf.3	+	8	953_955	c.848_850delACA	c.(847-852)gacaac>gac	p.N285del	FUS_uc002ebe.2_In_Frame_Del_p.N281del|FUS_uc002ebg.3_In_Frame_Del_p.N80del|FUS_uc002ebh.3_In_Frame_Del_p.N284del|FUS_uc010caj.1_Intron	NM_004960	NP_004951	P35637	FUS_HUMAN	Homo sapiens fused in sarcoma (FUS), transcript variant 1, mRNA.	285	RRM.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|RNA binding|nucleotide binding|protein binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		GATAATTCAGACAACAACACCAT	0.374			T	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"	"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"								46	185	---	---	---	---						-	31200461	ACA	-	31200459	7	5	128	1	0	1	0	1	0	0	0	0	6100	275	10	0	882	0	FUS	16	31200459	In_Frame_Del	DEL	ACA	TCGA-EZ-7264-01A-11D-2024-08		31200459	59154294	22	5836											
FAM64A	54478	broad.mit.edu	37	chr17	6348641	6348641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgcagggccctcctggaaaCgcctggaaaccccagagcca	10	3	12	16	2	0	1	0	0	0	1	1	3	1	3	6	3	3	1	6	3	2	0	rs11538170		TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr17:6348641C>T	uc002gcw.2	+	1	320	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C	FAM64A_uc002gcu.2_Missense_Mutation_p.R71C	NM_001195228	NP_001182157	Q9BSJ6	FA64A_HUMAN	Homo sapiens family with sequence similarity 64, member A (FAM64A), transcript variant 2, mRNA.	71						nucleolus	protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				COAD - Colon adenocarcinoma(228;0.141)		CTCCTGGAAACGCCTGGAAAC	0.627													20	44					0	0	1	0	0	T	6348641	C	T	6348641	3	4	128	1	0	0	0	0	1	0	0	0	5598	536	19	1	213	1	FAM64A	17	6348641	Missense_Mutation	SNP	C	TCGA-EZ-7264-01A-11D-2024-08		6348641	74846569	23	5837											
MYO15A	51168	broad.mit.edu	37	chr17	18052562	18052562	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgggactcggatgaggAcatgtccactagaccccagc	10	6	12	13	1	0	2	0	1	0	1	2	5	1	5	3	3	2	1	3	3	1	1			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr17:18052562A>G	uc021trm.1	+	32	7208	c.6989A>G	c.(6988-6990)gAc>gGc	p.D2330G	MYO15A_uc021trl.1_Missense_Mutation_p.D2328G	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2330	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCGGATGAGGACATGTCCACT	0.527													10	14					0	0	1	0	0	G	18052562	A	G	18052562	3	3	128	1	0	0	0	0	1	0	0	0	10063	275	10	3	7115	3	MYO15A	17	18052562	Missense_Mutation	SNP	A	TCGA-EZ-7264-01A-11D-2024-08	11703921	18052562	63142648	24	5838											
SLFN12	55106	broad.mit.edu	37	chr17	33738552	33738552	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gattcagggtaaattacttgCgaccttaaatcatactggca	13	12	8	8	1	2	0	2	0	0	0	2	2	2	0	1	2	3	2	1	2	6	6	rs150878441		TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr17:33738552C>T	uc002hji.4	-	3	1919	c.1542G>A	c.(1540-1542)tcG>tcA	p.S514S	SLFN12_uc002hjj.4_Silent_p.S514S|SLFN12_uc010cts.3_Silent_p.S514S	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	Homo sapiens schlafen family member 12 (SLFN12), mRNA.	514							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAATTACTTGCGACCTTAAAT	0.393													23	44					0	0	1	0	0	T	33738552	C	T	33738552	2	4	128	1	0	0	0	0	0	0	0	1	14734	755	27	1		1	SLFN12	17	33738552	Silent	SNP	C	TCGA-EZ-7264-01A-11D-2024-08	15685990	33738552	47456658	25	5839											
DNAH17	8632	broad.mit.edu	37	chr17	76456336	76456336	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttttgcttctcagtgaCgttctggaaggaagatggac	8	12	13	8	1	2	2	1	1	2	1	3	5	2	5	1	4	1	2	1	4	2	4			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr17:76456336C>T	uc010dhp.2	-	58	9468	c.9343G>A	c.(9343-9345)Gtc>Atc	p.V3115I	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)			TTCTCAGTGACGTTCTGGAAG	0.562													6	5					0	0	1	0	0	T	76456336	C	T	76456336	3	4	128	1	0	0	0	0	1	0	0	0	4601	536	19	1	4137	1	DNAH17	17	76456336	Missense_Mutation	SNP	C	TCGA-EZ-7264-01A-11D-2024-08	42717784	76456336	4738874	26	5840											
LAMA1	284217	broad.mit.edu	37	chr18	6999522	6999522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaggcccccagcctgcaaaCgcactgcccagatgtgcggt	8	5	12	16	3	0	1	0	0	0	1	0	2	0	1	4	2	5	2	4	2	1	0	rs146559010		TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr18:6999522C>T	uc002knm.3	-	31	4679	c.4585G>A	c.(4585-4587)Gtt>Att	p.V1529I	LAMA1_uc010wzj.2_Missense_Mutation_p.V1005I	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1529	Laminin EGF-like 17.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCCTGCAAACGCACTGCCCA	0.557													3	30					0	0	1	0	0	T	6999522	C	T	6999522	3	4	128	1	0	0	0	0	1	0	0	0	8605	536	19	1	4770	1	LAMA1	18	6999522	Missense_Mutation	SNP	C	TCGA-EZ-7264-01A-11D-2024-08		6999522	71077726	27	5841											
QTRT1	81890	broad.mit.edu	37	chr19	10812925	10812925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccgtgcagatccagaatgCgctgggtgagaggaccctgg	9	7	15	10	2	0	3	0	1	0	3	2	5	2	4	3	3	2	2	3	3	1	0			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr19:10812925C>T	uc002mpr.3	+	2	471	c.446C>T	c.(445-447)gCg>gTg	p.A149V		NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	Homo sapiens queuine tRNA-ribosyltransferase 1 (QTRT1), mRNA.	149					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			ATCCAGAATGCGCTGGGTGAG	0.607													3	38					0	0	1	0	0	T	10812925	C	T	10812925	3	4	128	1	0	0	0	0	1	0	0	0	12885	768	27	1	456	1	QTRT1	19	10812925	Missense_Mutation	SNP	C	TCGA-EZ-7264-01A-11D-2024-08		10812925	48316058	28	5842											
KLHL26	55295	broad.mit.edu	37	chr19	18779269	18779269	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtaggctgcagccacacGtgcgtggccgtgctggacaa	8	6	16	11	3	0	0	0	0	0	0	0	2	0	1	2	4	4	4	2	4	2	1			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr19:18779269G>A	uc002njz.1	+	2	1089	c.1062G>A	c.(1060-1062)acG>acA	p.T354T		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	Homo sapiens kelch-like 26 (Drosophila) (KLHL26), mRNA.	354										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCAGCCACACGTGCGTGGCCG	0.677													9	18					0	0	1	0	0	A	18779269	G	A	18779269	2	1	128	1	0	0	0	0	0	0	0	1	8381	1132	40	1		1	KLHL26	19	18779269	Silent	SNP	G	TCGA-EZ-7264-01A-11D-2024-08	7966344	18779269	40349714	29	5843											
ANKRD27	84079	broad.mit.edu	37	chr19	33096834	33096834	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcttattgggttttgcAttcgaatctaacagacactt	9	17	6	9	1	2	1	0	0	2	1	4	2	3	1	1	1	2	2	1	1	3	8			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr19:33096834A>G	uc002ntn.1	-	23	2556	c.2400T>C	c.(2398-2400)aaT>aaC	p.N800N		NM_032139	NP_115515	Q96NW4	ANR27_HUMAN	Homo sapiens ankyrin repeat domain 27 (VPS9 domain) (ANKRD27), mRNA.	800					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					TGGGTTTTGCATTCGAATCTA	0.473													15	13					0	0	1	0	0	G	33096834	A	G	33096834	2	3	128	1	0	0	0	0	0	0	0	1	655	214	8	3		3	ANKRD27	19	33096834	Silent	SNP	A	TCGA-EZ-7264-01A-11D-2024-08	14317565	33096834	26032149	30	5844											
CIC	23152	broad.mit.edu	37	chr19	42798878	42798878	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctttcaggaccatggcttcTtcccgtcaggtgagcctgtc	5	13	10	13	1	4	1	2	1	2	0	6	2	5	2	3	3	1	1	3	3	0	3			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr19:42798878T>G	uc002otf.1	+	18	4490	c.4450T>G	c.(4450-4452)Ttc>Gtc	p.F1484V		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCATGGCTTCTTCCCGTCAGG	0.597			"Mis, F, S"		oligodendroglioma								34	12					0	0	1	0	0	G	42798878	T	G	42798878	3	3	128	1	0	0	0	0	1	0	0	0	3424	1609	56	5	4524	5	CIC	19	42798878	Missense_Mutation	SNP	T	TCGA-EZ-7264-01A-11D-2024-08	9702044	42798878	16330105	31	5845											
ZNF347	84671	broad.mit.edu	37	chr19	53643617	53643617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactttagaactttccacaCgttacatttgtaaggtttcc	10	16	6	9	1	0	2	0	1	0	1	2	2	2	2	2	1	2	3	2	1	4	7			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr19:53643617C>T	uc002qbc.2	-	4	2894	c.2467G>A	c.(2467-2469)Gtg>Atg	p.V823M	ZNF347_uc002qbb.2_Missense_Mutation_p.V822M|ZNF347_uc010eql.2_Missense_Mutation_p.V823M	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN	Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.	822					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		ACTTTCCACACGTTACATTTG	0.413													54	29					0	0	1	0	0	T	53643617	C	T	53643617	3	4	128	1	0	0	0	0	1	0	0	0	17858	536	19	1	59	1	ZNF347	19	53643617	Missense_Mutation	SNP	C	TCGA-EZ-7264-01A-11D-2024-08	10844739	53643617	5485366	32	5846											
PCSK2	5126	broad.mit.edu	37	chr20	17240949	17240949	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcaaaggccaagagaagacGcagcctacaccacaagcagc	16	2	10	13	1	0	2	0	0	0	2	0	3	0	2	3	1	5	3	3	1	5	1			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr20:17240949G>A	uc002wpm.3	+	1	596	c.242G>A	c.(241-243)cGc>cAc	p.R81H	PCSK2_uc002wpl.3_Missense_Mutation_p.R62H|PCSK2_uc010zrm.2_Intron	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	81					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)	AAGAGAAGACGCAGCCTACAC	0.532													43	48					0	0	1	0	0	A	17240949	G	A	17240949	3	1	128	1	0	0	0	0	1	0	0	0	11601	1087	38	1	248	1	PCSK2	20	17240949	Missense_Mutation	SNP	G	TCGA-EZ-7264-01A-11D-2024-08		17240949	45784571	33	5847											
HUWE1	10075	broad.mit.edu	37	chrX	53618082	53618082	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaagcccatgtccatgaGctacataaagaatgcaaggg	14	8	11	8	0	0	3	0	2	0	1	1	3	1	3	2	1	4	2	2	1	6	2			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chrX:53618082G>C	uc004dsp.3	-	34	4375	c.3973_splice	c.e34-1	p.L1325_splice	HUWE1_uc004dsn.3_Splice_Site_p.L150_splice	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	1325	UBA.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATGTCCATGAGCTACATAAAG	0.433													14	18					0	0	1	0	0	C	53618082	G	C	53618082	5	2	128	1	0	0	0	0	0	0	1	0	7461	985	34	5	9355	5	HUWE1	23	53618082	Splice_Site	SNP	G	TCGA-EZ-7264-01A-11D-2024-08		53618082	101652478	34	5848											
ACRC	93953	broad.mit.edu	37	chrX	70824013	70824013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgatgattcggaagcttccGacgacagcagtgatgattcg	10	10	13	8	4	0	4	0	4	0	0	3	7	1	5	1	1	2	2	1	1	1	3			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chrX:70824013G>A	uc004eae.2	+	7	1387	c.886G>A	c.(886-888)Gac>Aac	p.D296N	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	Homo sapiens acidic repeat containing (ACRC), mRNA.	296	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GGAAGCTTCCGACGACAGCAG	0.527													111	136					0	0	1	0	0	A	70824013	G	A	70824013	3	1	128	1	0	0	0	0	1	0	0	0	171	1058	37	2	912	2	ACRC	23	70824013	Missense_Mutation	SNP	G	TCGA-EZ-7264-01A-11D-2024-08	17205931	70824013	84446547	35	5849											
UPRT	139596	broad.mit.edu	37	chrX	74519578	74519578	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcttcttcaaggtgaggcaAtggaacaaggtttacgagac	12	11	11	7	1	3	2	1	1	2	1	3	4	3	3	0	4	2	2	0	4	5	5			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chrX:74519578A>G	uc004ecb.2	+	4	767	c.571A>G	c.(571-573)Atg>Gtg	p.M191V	UPRT_uc004ecc.2_Non-coding_Transcript|UPRT_uc004ecd.2_Missense_Mutation_p.M191V	NM_145052	NP_659489	Q96BW1	UPP_HUMAN	Homo sapiens uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae) (UPRT), transcript variant 1, mRNA.	191					nucleoside metabolic process	cytoplasm|nucleus				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						AGGTGAGGCAATGGAACAAGG	0.383													6	74					0	0	1	0	0	G	74519578	A	G	74519578	3	3	128	1	0	0	0	0	1	0	0	0	17011	101	4	3	589	3	UPRT	23	74519578	Missense_Mutation	SNP	A	TCGA-EZ-7264-01A-11D-2024-08	3695565	74519578	80750982	36	5850											
AMOT	154796	broad.mit.edu	37	chrX	112058788	112058788	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgctgctgtggctgcTgctgctgctgttgttggtgg	0	15	17	9	0	0	0	0	0	0	0	0	0	0	0	0	4	6	10	0	4	0	2			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chrX:112058788T>C	uc004epr.3	-	1	1208	c.1190A>G	c.(1189-1191)cAg>cGg	p.Q397R	AMOT_uc004eps.3_5'UTR|AMOT_uc004ept.1_Missense_Mutation_p.Q397R	NM_001113490	NP_573572	Q4VCS5	AMOT_HUMAN	Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA.	397					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	p.T397S(3)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						ctgtggctgctgctgctgctg	0.572													4	48					0	0	1	0	0	C	112058788	T	C	112058788	3	2	128	1	0	0	0	0	1	0	0	0	582	1580	55	4	2104	4	AMOT	23	112058788	Missense_Mutation	SNP	T	TCGA-EZ-7264-01A-11D-2024-08	37539210	112058788	43211772	37	5851											
ARID1A	8289	broad.mit.edu	37	chr1	27059237	27059237	+	Frame_Shift_Del	DEL	A	A	-																															gacctccagtaagggagggcAagaagatatgaacctgagcc																										TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr1:27059237delA	uc001bmv.1	+	3	2247	c.1874delA	c.(1873-1875)caafs	p.Q625fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.Q625fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.Q625fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.Q242fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	625					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.Q625*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AAGGGAGGGCAAGAAGATATG	0.488			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								19	90	---	---	---	---						-	27059237	A	-	27059237	7	5	129	1	0	1	0	1	0	0	0	0	913	130	5	0	1888	0	ARID1A	1	27059237	Frame_Shift_Del	DEL	A	TCGA-FG-5962-01B-11D-1893-08		27059237	222191384	1	5852											
HRNR	388697	broad.mit.edu	37	chr1	152193268	152193268	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaccatagctggaagaCgaacctgagctagatctgtg	11	9	12	9	1	1	4	0	2	1	2	1	6	1	5	2	1	4	3	2	1	4	2	rs150466362		TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr1:152193268C>T	uc001ezt.1	-	2	913	c.837G>A	c.(835-837)tcG>tcA	p.S279S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	279					keratinization		calcium ion binding|protein binding	p.G278G(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTGGAAGACGAACCTGAGC	0.577													37	560					0	0	0.006999	0	0	T	152193268	C	T	152193268	2	4	129	1	0	0	0	0	0	0	0	1	7359	523	19	1		1	HRNR	1	152193268	Silent	SNP	C	TCGA-FG-5962-01B-11D-1893-08	125134031	152193268	97057353	2	5853											
KIAA1383	54627	broad.mit.edu	37	chr1	232941483	232941483	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtcgcggcaagtcctgcctCttccgcctgcagcctgctac	4	9	11	17	3	1	0	0	0	1	0	4	0	3	0	5	2	5	3	5	2	2	2			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr1:232941483C>T	uc001hvh.2	+	0	846	c.714C>T	c.(712-714)ctC>ctT	p.L238L		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	Homo sapiens KIAA1383 (KIAA1383), mRNA.	96										breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)	20		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				AGTCCTGCCTCTTCCGCCTGC	0.721													5	32					0	0	0.001984	0	0	T	232941483	C	T	232941483	2	4	129	1	0	0	0	0	0	0	0	1	8228	900	32	3		3	KIAA1383	1	232941483	Silent	SNP	C	TCGA-FG-5962-01B-11D-1893-08	80748215	232941483	16309138	3	5854											
CCDC88A	55704	broad.mit.edu	37	chr2	55544946	55544946	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cattctggttcatgagtgagGtactttgggaattaagggtg	9	14	14	4	0	2	2	1	2	1	0	2	3	2	3	0	4	1	2	0	4	3	5			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr2:55544946G>T	uc002ryv.2	-	19	4195	c.3353C>A	c.(3352-3354)aCc>aAc	p.T1118N	CCDC88A_uc010ypa.1_Missense_Mutation_p.T1118N|CCDC88A_uc010yoz.1_Missense_Mutation_p.T1119N|CCDC88A_uc002ryu.2_Missense_Mutation_p.T401N|CCDC88A_uc002rys.3_Missense_Mutation_p.T104N|CCDC88A_uc002ryw.3_Missense_Mutation_p.T402N|CCDC88A_uc010fby.1_5'UTR	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	1119					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CATGAGTGAGGTACTTTGGGA	0.333													13	87					0.000219431	0.000314014	0.020292	1	0	T	55544946	G	T	55544946	3	4	129	1	0	0	0	0	1	0	0	0	2863	1261	44	5	2311	5	CCDC88A	2	55544946	Missense_Mutation	SNP	G	TCGA-FG-5962-01B-11D-1893-08		55544946	187654427	4	5855											
GPAT2	150763	broad.mit.edu	37	chr2	96691942	96691942	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctccatacctgcagggaaaAgggctgagctaggtgcaccc	10	6	13	12	0	0	1	0	1	0	0	1	2	1	2	3	3	4	5	3	3	4	2			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr2:96691942A>G	uc002svf.3	-	10	1367	c.1144T>C	c.(1144-1146)Ttt>Ctt	p.F382L	GPAT2_uc002sve.3_Missense_Mutation_p.F184L|GPAT2_uc002svd.3_Missense_Mutation_p.F195L|GPAT2_uc002svg.3_Missense_Mutation_p.F255L|GPAT2_uc010yuh.2_Missense_Mutation_p.F311L|GPAT2_uc002svh.3_Missense_Mutation_p.F382L	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase 2, mitochondrial (GPAT2), nuclear gene encoding mitochondrial protein, mRNA.	382					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						TGCAGGGAAAAGGGCTGAGCT	0.647													3	81					0	0	0.004672	0	0	G	96691942	A	G	96691942	3	3	129	1	0	0	0	0	1	0	0	0	6589	72	3	4	1291	4	GPAT2	2	96691942	Missense_Mutation	SNP	A	TCGA-FG-5962-01B-11D-1893-08	41146996	96691942	146507431	5	5856											
TFPI	7035	broad.mit.edu	37	chr2	188332562	188332562	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccactgtacttaaatgggcgGcatttcccaatgactgaatt	11	12	8	10	1	0	2	0	2	0	0	1	2	1	2	2	2	1	2	2	2	5	4			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr2:188332562G>A	uc002upy.3	-	6	1021	c.726C>T	c.(724-726)tgC>tgT	p.C242C		NM_006287	NP_006278	P10646	TFPI1_HUMAN	Homo sapiens tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) (TFPI), transcript variant 1, mRNA.	242	BPTI/Kunitz inhibitor 3.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	TAAATGGGCGGCATTTCCCAA	0.418													4	99					0	0	0.009096	0	0	A	188332562	G	A	188332562	2	1	129	1	0	0	0	0	0	0	0	1	15805	1195	42	3		3	TFPI	2	188332562	Silent	SNP	G	TCGA-FG-5962-01B-11D-1893-08	91640620	188332562	54866811	6	5857											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								29	66					0	0	0.012213	0	0	T	209113112	C	T	209113112	3	4	129	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-5962-01B-11D-1893-08	20780550	209113112	34086261	7	5858											
KCNH8	131096	broad.mit.edu	37	chr3	19554646	19554646	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggcttaagcttaaagcAactggcctcgggaacggtgc	9	8	13	11	2	0	0	0	0	0	0	1	1	0	1	2	4	5	3	2	4	5	2			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr3:19554646A>C	uc003cbk.1	+	12	2459	c.2264A>C	c.(2263-2265)cAa>cCa	p.Q755P	KCNH8_uc010hex.1_Missense_Mutation_p.Q216P	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	755						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AGCTTAAAGCAACTGGCCTCG	0.517													4	135					0	0	0.009096	0	0	C	19554646	A	C	19554646	3	2	129	1	0	0	0	0	1	0	0	0	8038	130	5	5	2314	5	KCNH8	3	19554646	Missense_Mutation	SNP	A	TCGA-FG-5962-01B-11D-1893-08		19554646	178467784	8	5859											
GTF2E1	2960	broad.mit.edu	37	chr3	120489647	120489647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgcccaaaaaagatgcacGcacacttttggcaaggttta	15	9	8	9	1	0	1	0	0	0	1	0	1	0	1	1	2	2	4	1	2	6	4			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr3:120489647G>A	uc003edz.4	+	2	635	c.521G>A	c.(520-522)cGc>cAc	p.R174H		NM_005513	NP_005504	P29083	T2EA_HUMAN	Homo sapiens general transcription factor IIE, polypeptide 1, alpha 56kDa (GTF2E1), mRNA.	174					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding	p.R174C(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		AAAGATGCACGCACACTTTTG	0.423													50	330					0	0	0.01441	0	0	A	120489647	G	A	120489647	3	1	129	1	0	0	0	0	1	0	0	0	6856	1087	38	1	527	1	GTF2E1	3	120489647	Missense_Mutation	SNP	G	TCGA-FG-5962-01B-11D-1893-08	100935001	120489647	77532783	9	5860											
GPR87	53836	broad.mit.edu	37	chr3	151012049	151012049	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcctggttctgatatttgAttttttgaacagccttcttg	7	19	7	8	0	2	3	0	3	2	0	3	3	3	3	2	1	2	1	2	1	2	8			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr3:151012049A>T	uc003eyt.2	-	2	1346	c.985T>A	c.(985-987)Tca>Aca	p.S329T	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	Homo sapiens G protein-coupled receptor 87 (GPR87), mRNA.	329						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGATATTTGATTTTTTGAAC	0.358													7	163					0	0	0.001984	0	0	T	151012049	A	T	151012049	3	4	129	1	0	0	0	0	1	0	0	0	6716	333	12	5	95	5	GPR87	3	151012049	Missense_Mutation	SNP	A	TCGA-FG-5962-01B-11D-1893-08	30522402	151012049	47010381	10	5861											
PIK3CA	5290	broad.mit.edu	37	chr3	178951958	178951958	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcataaatcttttctcaatgAtgcttggctctggaatgcca	10	15	7	9	0	4	1	2	1	3	0	5	2	4	2	1	2	2	2	1	2	4	4			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr3:178951958A>G	uc003fjk.3	+	20	3170	c.3013A>G	c.(3013-3015)Atg>Gtg	p.M1005V		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	1005	PI3K/PI4K.				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1004I(4)|p.M1005V(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TTTCTCAATGATGCTTGGCTC	0.388		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			10	101					0	0	0.008291	0	0	G	178951958	A	G	178951958	3	3	129	1	0	0	0	0	1	0	0	0	11913	333	12	3	3091	3	PIK3CA	3	178951958	Missense_Mutation	SNP	A	TCGA-FG-5962-01B-11D-1893-08	27939909	178951958	19070472	11	5862											
SCD5	79966	broad.mit.edu	37	chr4	83557863	83557863	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatgttgagtgagatggtaTagcggagaatagaggccaag	13	9	16	3	1	0	5	0	3	0	3	0	7	0	5	1	3	1	2	1	3	5	4			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr4:83557863T>C	uc003hna.2	-	3	1003	c.683A>G	c.(682-684)tAt>tGt	p.Y228C		NM_001037582	NP_001032671	Q86SK9	SCD5_HUMAN	Homo sapiens stearoyl-CoA desaturase 5 (SCD5), transcript variant 1, mRNA.	228					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				TGAGATGGTATAGCGGAGAAT	0.562													7	66					0	0	0.001984	0	0	C	83557863	T	C	83557863	3	2	129	1	0	0	0	0	1	0	0	0	13887	1406	49	3	317	3	SCD5	4	83557863	Missense_Mutation	SNP	T	TCGA-FG-5962-01B-11D-1893-08		83557863	107596413	12	5863											
MOCS2	4338	broad.mit.edu	37	chr5	52402983	52402983	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggctgaagcacgaggAgctgatctccaagctcgaca	11	6	11	13	2	1	2	0	2	1	0	4	5	2	3	2	2	3	4	2	2	2	0			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr5:52402983A>G	uc003joz.3	-	2	436	c.22T>C	c.(22-24)Tcc>Ccc	p.S8P	MOCS2_uc011cqf.2_Missense_Mutation_p.L70P|LOC257396_uc003jpb.2_5'Flank	NM_004531	NP_004522	O96033	MOC2A_HUMAN	Homo sapiens molybdenum cofactor synthesis 2 (MOCS2), transcript variant 3, mRNA.	0					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				AAGCACGAGGAGCTGATCTCC	0.408													8	75					0	0	0.00308	0	0	G	52402983	A	G	52402983	3	3	129	1	0	0	0	0	1	0	0	0	9691	304	11	4	564	4	MOCS2	5	52402983	Missense_Mutation	SNP	A	TCGA-FG-5962-01B-11D-1893-08		52402983	128512277	13	5864											
PIK3R1	5295	broad.mit.edu	37	chr5	67589217	67589222	+	In_Frame_Del	DEL	TTGAAT	TTGAAT	-																															attaaccttcagttctgtggTtgaattaataaaccactacc																										TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr5:67589217_67589222delTTGAAT	uc003jva.3	+	9	1785_1790	c.1205_1210delTTGAAT	c.(1204-1212)gttgaatta>gta	p.EL403del	PIK3R1_uc003jvc.3_In_Frame_Del_p.EL103del|PIK3R1_uc003jvd.3_In_Frame_Del_p.EL133del|PIK3R1_uc003jve.3_In_Frame_Del_p.EL82del|PIK3R1_uc021xzn.1_In_Frame_Del_p.EL40del|PIK3R1_uc011crb.2_In_Frame_Del_p.EL73del	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	403	SH2 1.				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.E403_I405>D(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AGTTCTGTGGTTGAATTAATAAACCA	0.335			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			24	43	---	---	---	---						-	67589222	TTGAAT	-	67589217	7	5	129	1	0	1	0	1	0	0	0	0	11918	1725	60	0	1369	0	PIK3R1	5	67589217	In_Frame_Del	DEL	TTGAAT	TCGA-FG-5962-01B-11D-1893-08	15186234	67589217	113326043	14	5865											
RHOBTB3	22836	broad.mit.edu	37	chr5	95119548	95119548	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatctgtgccgagatgtacCaagtgtccagactgcagcac	10	9	11	11	1	1	3	0	1	1	2	2	4	2	3	3	0	4	3	3	0	2	1			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr5:95119548C>T	uc003klm.3	+	9	2041	c.1504C>T	c.(1504-1506)Caa>Taa	p.Q502*		NM_014899	NP_055714	O94955	RHBT3_HUMAN	Homo sapiens Rho-related BTB domain containing 3 (RHOBTB3), mRNA.	502	Interaction with Rab9.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		CGAGATGTACCAAGTGTCCAG	0.468													14	197					0	0	0.007413	0	0	T	95119548	C	T	95119548	4	4	129	1	0	0	0	0	0	1	0	0	13335	595	21	3	1542	3	RHOBTB3	5	95119548	Nonsense_Mutation	SNP	C	TCGA-FG-5962-01B-11D-1893-08	27530331	95119548	85795712	15	5866											
TCOF1	6949	broad.mit.edu	37	chr5	149755650	149755650	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggtgtcccctcaggcaaaAccagctctgaaaattcctca	11	10	7	13	0	3	1	2	1	1	0	5	1	5	1	4	2	2	2	4	2	4	2			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr5:149755650A>G	uc003lry.3	+	12	2007	c.1899A>G	c.(1897-1899)aaA>aaG	p.K633K	TCOF1_uc003lrw.3_Silent_p.K633K|TCOF1_uc003lrz.3_Silent_p.K633K|TCOF1_uc011dch.2_Silent_p.K633K|TCOF1_uc003lrx.3_Silent_p.K556K|TCOF1_uc003lsa.3_Silent_p.K556K|TCOF1_uc011dci.1_Silent_p.K122K	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 4, mRNA.	633					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCAGGCAAAACCAGCTCTGA	0.572													16	223					0	0	0.004007	0	0	G	149755650	A	G	149755650	2	3	129	1	0	0	0	0	0	0	0	1	15705	40	2	3		3	TCOF1	5	149755650	Silent	SNP	A	TCGA-FG-5962-01B-11D-1893-08	54636102	149755650	31159610	16	5867											
MED7	9443	broad.mit.edu	37	chr5	156566369	156566369	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagctaagccttcttgaataTtttcatccgtatattccttg	9	17	6	9	1	2	1	1	1	1	0	4	2	4	1	3	0	2	2	3	0	5	10			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr5:156566369T>C	uc010jik.3	-	1	466	c.74A>G	c.(73-75)aAt>aGt	p.N25S	MED7_uc003lwm.4_Missense_Mutation_p.N25S|MED7_uc021ygl.1_Missense_Mutation_p.N25S	NM_001100816	NP_004261	O43513	MED7_HUMAN	Homo sapiens mediator complex subunit 7 (MED7), transcript variant 1, mRNA.	25					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCTTGAATATTTTCATCCGT	0.438													10	85					0	0	0.006214	0	0	C	156566369	T	C	156566369	3	2	129	1	0	0	0	0	1	0	0	0	9452	1493	52	3	631	3	MED7	5	156566369	Missense_Mutation	SNP	T	TCGA-FG-5962-01B-11D-1893-08	6810719	156566369	24348891	17	5868											
BNIP1	662	broad.mit.edu	37	chr5	172578699	172578699	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacacctgttaccttcagtgTgagtatttgtatgttctttt	7	20	7	7	0	2	1	1	1	1	0	2	1	2	1	2	0	2	4	2	0	4	9			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr5:172578699T>C	uc003mci.4	+	3	410	c.306_splice	c.e3+2	p.S102_splice	BNIP1_uc003mcj.4_Intron|BNIP1_uc003mck.4_Splice_Site_p.S102_splice|BNIP1_uc003mcl.4_Intron|BNIP1_uc021yhw.1_Intron	NM_013979	NP_053582	Q12981	SEC20_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 1 (BNIP1), transcript variant BNIP1-b, mRNA.	59					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	SNARE complex|integral to endoplasmic reticulum membrane|nuclear envelope	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ACCTTCAGTGTGAGTATTTGT	0.368													3	111					0	0	0.014758	0	0	C	172578699	T	C	172578699	5	2	129	1	0	0	0	0	0	0	1	0	1476	1710	59	3	318	3	BNIP1	5	172578699	Splice_Site	SNP	T	TCGA-FG-5962-01B-11D-1893-08	16012330	172578699	8336561	18	5869											
MDN1	23195	broad.mit.edu	37	chr6	90428622	90428622	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctggcccgaccaggatgAccatccagctcatctgcaca	10	6	10	15	1	2	1	1	1	1	0	3	3	3	2	4	3	2	3	4	3	0	0			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr6:90428622A>G	uc003pnn.1	-	41	6301	c.6185T>C	c.(6184-6186)gTc>gCc	p.V2062A		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	2062					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GACCAGGATGACCATCCAGCT	0.562													3	102					0	0	0.004672	0	0	G	90428622	A	G	90428622	3	3	129	1	0	0	0	0	1	0	0	0	9415	275	10	3	10849	3	MDN1	6	90428622	Missense_Mutation	SNP	A	TCGA-FG-5962-01B-11D-1893-08		90428622	80686445	19	5870											
ANKRD46	157567	broad.mit.edu	37	chr8	101534835	101534835	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggtagcaccccactcacaTaataagcaatgccaagagac	16	5	8	12	0	1	1	1	0	0	1	1	2	1	1	3	1	3	3	3	1	5	3			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr8:101534835T>A	uc003yjo.1	-	5	944	c.635A>T	c.(634-636)tAt>tTt	p.Y212F	ANKRD46_uc003yjm.3_Splice_Site_p.Y212_splice|ANKRD46_uc003yjn.1_Missense_Mutation_p.Y212F|ANKRD46_uc003yjp.1_Missense_Mutation_p.Y212F	NM_198401	NP_940683	Q86W74	ANR46_HUMAN	Homo sapiens ankyrin repeat domain 46 (ANKRD46), mRNA.	212						integral to membrane				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			CCCACTCACATAATAAGCAAT	0.488													11	71					0	0	0.010729	0	0	A	101534835	T	A	101534835	3	1	129	1	0	0	0	0	1	0	0	0	674	1406	49	5	55	5	ANKRD46	8	101534835	Missense_Mutation	SNP	T	TCGA-FG-5962-01B-11D-1893-08		101534835	44829187	20	5871											
RAD21	5885	broad.mit.edu	37	chr8	117869555	117869555	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattatcatccttatattgAtcttcatattctaaatggtt	13	19	3	6	0	4	1	2	1	2	0	5	1	5	1	1	1	0	1	1	1	7	9			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr8:117869555A>C	uc003yod.3	-	5	927	c.639T>G	c.(637-639)gaT>gaG	p.D213E		NM_006265	NP_006256	O60216	RAD21_HUMAN	Homo sapiens RAD21 homolog (S. pombe) (RAD21), mRNA.	213					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding	p.E212*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					CCTTATATTGATCTTCATATT	0.333													15	109					0	0	0.003163	0	0	C	117869555	A	C	117869555	3	2	129	1	0	0	0	0	1	0	0	0	12981	330	12	5	1292	5	RAD21	8	117869555	Missense_Mutation	SNP	A	TCGA-FG-5962-01B-11D-1893-08	16334720	117869555	28494467	21	5872											
ZNF618	114991	broad.mit.edu	37	chr9	116812025	116812025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggacccgcagcagaagctgCggcctgtgccaccctaccag	8	5	12	16	2	0	1	0	0	0	1	0	2	0	2	5	2	5	3	5	2	2	1			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr9:116812025C>T	uc004bid.3	+	14	2542	c.2443C>T	c.(2443-2445)Cgg>Tgg	p.R815W	ZNF618_uc004bic.3_Missense_Mutation_p.R722W|ZNF618_uc011lxi.2_Missense_Mutation_p.R782W|ZNF618_uc011lxj.2_Missense_Mutation_p.R783W|ZNF618_uc010mvb.3_Missense_Mutation_p.R405W	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	815					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GCAGAAGCTGCGGCCTGTGCC	0.627													4	102					0	0	0.014758	0	0	T	116812025	C	T	116812025	3	4	129	1	0	0	0	0	1	0	0	0	18039	759	27	1	2218	1	ZNF618	9	116812025	Missense_Mutation	SNP	C	TCGA-FG-5962-01B-11D-1893-08		116812025	24401406	22	5873											
NOTCH1	4851	broad.mit.edu	37	chr9	139412675	139412675	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggccttgccattgacagggTtggtgtcgcagttggagccc	5	11	15	10	1	0	1	0	1	0	0	1	2	0	2	3	4	2	3	3	4	0	4			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr9:139412675T>C	uc004chz.3	-	6	1169	c.1169A>G	c.(1168-1170)aAc>aGc	p.N390S		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	390	EGF-like 10.				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.N390S(3)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ATTGACAGGGTTGGTGTCGCA	0.662			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			4	18					0	0	0.014758	0	0	C	139412675	T	C	139412675	3	2	129	1	0	0	0	0	1	0	0	0	10547	1725	60	3	6610	3	NOTCH1	9	139412675	Missense_Mutation	SNP	T	TCGA-FG-5962-01B-11D-1893-08	22600650	139412675	1800756	23	5874											
MUC2	4583	broad.mit.edu	37	chr11	1075719	1075719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttccactacaagaccttcGacggggacgtcttccgcttc	8	10	8	15	4	1	1	0	0	1	1	5	3	3	2	3	2	1	1	3	2	2	5			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr11:1075719G>A	uc001lsx.1	+	1	172	c.145G>A	c.(145-147)Gac>Aac	p.D49N		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	49	VWFD 1.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAAGACCTTCGACGGGGACGT	0.622													7	38					0	0	0.00308	0	0	A	1075719	G	A	1075719	3	1	129	1	0	0	0	0	1	0	0	0	9975	1058	37	2	151	2	MUC2	11	1075719	Missense_Mutation	SNP	G	TCGA-FG-5962-01B-11D-1893-08		1075719	133930797	24	5875											
OR5AS1	219447	broad.mit.edu	37	chr11	55798086	55798086	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccatgtattattttcttagCaacttatctttcttagacat	10	19	3	9	0	3	1	0	0	3	1	3	1	3	1	1	0	2	2	1	0	6	8			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr11:55798086C>G	uc010riw.2	+	0	192	c.192C>G	c.(190-192)agC>agG	p.S64R		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					ATTTTCTTAGCAACTTATCTT	0.348													7	57					0	0	0.001984	0	0	G	55798086	C	G	55798086	3	3	129	1	0	0	0	0	1	0	0	0	11146	709	25	5	194	5	OR5AS1	11	55798086	Missense_Mutation	SNP	C	TCGA-FG-5962-01B-11D-1893-08	54722367	55798086	79208430	25	5876											
OR1S2	219958	broad.mit.edu	37	chr11	57970708	57970708	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatttttctattgatgagctTtctcagggcacctttcatat	9	18	6	8	0	3	2	2	2	2	0	4	2	3	2	1	1	1	2	1	1	3	7			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr11:57970708T>C	uc010rkb.2	-	0	946	c.946A>G	c.(946-948)Aag>Gag	p.K316E		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 2 (OR1S2), mRNA.	316					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TTGATGAGCTTTCTCAGGGCA	0.413													5	221					0	0	0.010729	0	0	C	57970708	T	C	57970708	3	2	129	1	0	0	0	0	1	0	0	0	10973	1850	64	3	34	3	OR1S2	11	57970708	Missense_Mutation	SNP	T	TCGA-FG-5962-01B-11D-1893-08	2172622	57970708	77035808	26	5877											
PDGFD	80310	broad.mit.edu	37	chr11	103870852	103870852	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtatccgtgtattctcctGagagtgaagccgccatgtca	8	12	10	11	2	2	2	1	2	1	1	4	3	3	2	4	0	1	2	4	0	3	3			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr11:103870852G>A	uc001phq.3	-	1	628	c.256C>T	c.(256-258)Cag>Tag	p.Q86*	PDGFD_uc001php.3_Nonsense_Mutation_p.Q80*	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	Homo sapiens platelet derived growth factor D (PDGFD), transcript variant 1, mRNA.	86	CUB.				positive regulation of cell division	Golgi membrane|endoplasmic reticulum lumen|extracellular region	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GTATTCTCCTGAGAGTGAAGC	0.458													14	202					0	0	0.020292	0	0	A	103870852	G	A	103870852	4	1	129	1	0	0	0	0	0	1	0	0	11660	1299	45	3	880	3	PDGFD	11	103870852	Nonsense_Mutation	SNP	G	TCGA-FG-5962-01B-11D-1893-08	45900144	103870852	31135664	27	5878											
RDX	5962	broad.mit.edu	37	chr11	110134885	110134885	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttgaattaattcctcagaAacatcttcaggaaagaattt	15	14	5	7	0	4	3	2	1	2	2	5	4	5	4	1	1	1	0	1	1	5	5			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr11:110134885A>C	uc009yxy.3	-	4	577	c.267T>G	c.(265-267)gtT>gtG	p.V89V	RDX_uc009yxx.1_Non-coding_Transcript|RDX_uc009yxz.3_Intron|RDX_uc009yya.3_Silent_p.V57V|RDX_uc001pku.3_Silent_p.V89V|RDX_uc010rwe.2_Intron	NM_002906	NP_002897	P35241	RADI_HUMAN	Homo sapiens radixin (RDX), mRNA.	89	FERM.				actin filament capping	Golgi apparatus|cleavage furrow|cytoskeleton|extrinsic to membrane|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		ATTCCTCAGAAACATCTTCAG	0.343													7	56					0	0	0.00308	0	0	C	110134885	A	C	110134885	2	2	129	1	0	0	0	0	0	0	0	1	13198	1	1	5		5	RDX	11	110134885	Silent	SNP	A	TCGA-FG-5962-01B-11D-1893-08	6264033	110134885	24871631	28	5879											
SIK2	23235	broad.mit.edu	37	chr11	111487048	111487048	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaagtacaaataatgaaaAtgttagaccaccctcacata	19	8	6	8	0	1	3	1	1	0	2	1	4	1	3	2	0	1	2	2	0	8	4			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr11:111487048A>C	uc001plt.3	+	1	335	c.217A>C	c.(217-219)Atg>Ctg	p.M73L		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	Homo sapiens salt-inducible kinase 2 (SIK2), mRNA.	73	Protein kinase.				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						AATAATGAAAATGTTAGACCA	0.373													11	71					0	0	0.013537	0	0	C	111487048	A	C	111487048	3	2	129	1	0	0	0	0	1	0	0	0	14318	101	4	5	223	5	SIK2	11	111487048	Missense_Mutation	SNP	A	TCGA-FG-5962-01B-11D-1893-08	1352163	111487048	23519468	29	5880											
CSRNP2	81566	broad.mit.edu	37	chr12	51470329	51470329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcctcttgagacccgagcCcgtgaatgcatccattggtt	7	12	9	13	2	1	2	0	2	1	1	3	4	3	2	4	1	2	2	4	1	1	4			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr12:51470329C>T	uc021qxx.1	-	1	528	c.16G>A	c.(16-18)Ggc>Agc	p.G6S	CSRNP2_uc001rxu.2_Missense_Mutation_p.G6S	NM_030809	NP_110436	Q9H175	CSRN2_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 2 (CSRNP2), transcript variant 1, mRNA.	6					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						AGACCCGAGCCCGTGAATGCA	0.522													9	153					0	0	0.006214	0	0	T	51470329	C	T	51470329	3	4	129	1	0	0	0	0	1	0	0	0	3964	623	22	3	1631	3	CSRNP2	12	51470329	Missense_Mutation	SNP	C	TCGA-FG-5962-01B-11D-1893-08		51470329	82381566	30	5881											
TMEM120B	144404	broad.mit.edu	37	chr12	122190038	122190038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctgtcgtggcaggttcGcctacaaggacgaatatgag	9	10	14	8	3	1	1	0	1	1	0	3	3	1	2	1	3	1	2	1	3	4	3			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr12:122190038G>A	uc001ubc.4	+	4	514	c.370G>A	c.(370-372)Gcc>Acc	p.A124T	TMEM120B_uc009zxh.3_Missense_Mutation_p.A124T	NM_001080825	NP_001074294	A0PK00	T120B_HUMAN	Homo sapiens transmembrane protein 120B (TMEM120B), mRNA.	124						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		TGGCAGGTTCGCCTACAAGGA	0.567													11	96					0	0	0.010729	0	0	A	122190038	G	A	122190038	3	1	129	1	0	0	0	0	1	0	0	0	16031	1087	38	1	388	1	TMEM120B	12	122190038	Missense_Mutation	SNP	G	TCGA-FG-5962-01B-11D-1893-08	70719709	122190038	11661857	31	5882											
ZMYM2	7750	broad.mit.edu	37	chr13	20638648	20638648	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacctgtttttggcgaagAatatgaggaacagcccagac	13	8	10	10	1	0	3	0	1	0	2	0	5	0	4	3	2	2	1	3	2	4	3			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr13:20638648A>G	uc001umr.3	+	19	3393	c.3095A>G	c.(3094-3096)gAa>gGa	p.E1032G	ZMYM2_uc001ums.3_Missense_Mutation_p.E1032G|ZMYM2_uc021rgy.1_Missense_Mutation_p.E1032G|ZMYM2_uc001umt.3_Missense_Mutation_p.E1032G|ZMYM2_uc001umv.3_Missense_Mutation_p.E412G|ZMYM2_uc001umw.3_Missense_Mutation_p.E485G	NM_003453	NP_932072	Q9UBW7	ZMYM2_HUMAN	Homo sapiens zinc finger, MYM-type 2 (ZMYM2), transcript variant 1, mRNA.	1032					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TTTGGCGAAGAATATGAGGAA	0.343													3	8					0	0	0.009096	0	0	G	20638648	A	G	20638648	3	3	129	1	0	0	0	0	1	0	0	0	17697	246	9	3	3161	3	ZMYM2	13	20638648	Missense_Mutation	SNP	A	TCGA-FG-5962-01B-11D-1893-08		20638648	94531230	32	5883											
KIAA0284	283638	broad.mit.edu	37	chr14	105353382	105353382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctctaattctgtggatgccGagtgtgaggggggcagcacc	7	10	15	9	1	2	1	0	1	2	0	3	3	2	2	2	4	2	2	2	4	1	2			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr14:105353382G>A	uc001yps.3	+	10	2902	c.2596G>A	c.(2596-2598)Gag>Aag	p.E866K	KIAA0284_uc010axb.3_Missense_Mutation_p.E866K|KIAA0284_uc001ypt.3_5'Flank	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	936						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		TGTGGATGCCGAGTGTGAGGG	0.662													30	41					0	0	0.008361	0	0	A	105353382	G	A	105353382	3	1	129	1	0	0	0	0	1	0	0	0	8166	1059	37	2	2848	2	KIAA0284	14	105353382	Missense_Mutation	SNP	G	TCGA-FG-5962-01B-11D-1893-08		105353382	1996158	33	5884											
HERC2	8924	broad.mit.edu	37	chr15	28389059	28389059	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattttctccaagcagcctaTttatgttaattgactgccca	10	15	5	11	0	1	1	0	1	1	0	2	1	1	1	3	0	3	2	3	0	4	7			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr15:28389059T>C	uc001zbj.3	-	73	11484	c.11378A>G	c.(11377-11379)aAt>aGt	p.N3793S		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3793					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAGCAGCCTATTTATGTTAAT	0.423													5	138					0	0	0.014758	0	0	C	28389059	T	C	28389059	3	2	129	1	0	0	0	0	1	0	0	0	7058	1493	52	3	3206	3	HERC2	15	28389059	Missense_Mutation	SNP	T	TCGA-FG-5962-01B-11D-1893-08		28389059	74142333	34	5885											
HERC2	8924	broad.mit.edu	37	chr15	28460828	28460828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgaccttcatgagcagcGtgatccactgcggggagctg	8	7	13	13	3	1	2	1	2	0	0	2	4	2	3	3	2	4	2	3	2	0	1	rs140060040	byFrequency	TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr15:28460828G>A	uc001zbj.3	-	38	6255	c.6149C>T	c.(6148-6150)aCg>aTg	p.T2050M		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	2050					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CATGAGCAGCGTGATCCACTG	0.632													12	16					0	0	0.013537	0	0	A	28460828	G	A	28460828	3	1	129	1	0	0	0	0	1	0	0	0	7058	1145	40	1	8575	1	HERC2	15	28460828	Missense_Mutation	SNP	G	TCGA-FG-5962-01B-11D-1893-08	71769	28460828	74070564	35	5886											
VPS13C	54832	broad.mit.edu	37	chr15	62201315	62201315	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgtttacatccaccaagaTacccccattctattgtagaa	13	12	5	11	0	1	2	0	0	1	2	2	2	2	2	4	0	2	2	4	0	6	7			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr15:62201315T>C	uc002agz.3	-	64	8945	c.8854A>G	c.(8854-8856)Atc>Gtc	p.I2952V	VPS13C_uc002aha.3_Missense_Mutation_p.I2909V|VPS13C_uc002ahb.2_Missense_Mutation_p.I2952V|VPS13C_uc002ahc.2_Missense_Mutation_p.I2909V|VPS13C_uc002ahd.1_Missense_Mutation_p.I329V	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	2952					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCCACCAAGATACCCCCATTC	0.348													5	51					0	0	0.014758	0	0	C	62201315	T	C	62201315	3	2	129	1	0	0	0	0	1	0	0	0	17188	1406	49	3	2519	3	VPS13C	15	62201315	Missense_Mutation	SNP	T	TCGA-FG-5962-01B-11D-1893-08	33740487	62201315	40330077	36	5887											
HERC1	8925	broad.mit.edu	37	chr15	63901366	63901366	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgagcggcagttgttgaTggcatagcgcaggcgctcgg	7	9	17	8	4	0	2	0	2	0	0	1	3	0	2	0	4	2	6	0	4	1	4			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr15:63901366T>C	uc002amp.3	-	77	14648	c.14500A>G	c.(14500-14502)Atc>Gtc	p.I4834V	HERC1_uc002amo.3_Non-coding_Transcript	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.	4834	HECT.				protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase 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						CAGTTGTTGATGGCATAGCGC	0.602													7	30					0	0	0.006214	0	0	C	63901366	T	C	63901366	3	2	129	1	0	0	0	0	1	0	0	0	7057	1464	51	3	89	3	HERC1	15	63901366	Missense_Mutation	SNP	T	TCGA-FG-5962-01B-11D-1893-08	1700051	63901366	38630026	37	5888											
ANKS4B	257629	broad.mit.edu	37	chr16	21261086	21261086	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgacatctggggaaacActcctctacattttgcagcc	9	11	10	11	0	2	1	0	1	2	0	3	2	3	2	2	3	4	1	2	3	2	3			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr16:21261086A>G	uc010bwp.1	+	1	242	c.199A>G	c.(199-201)Act>Gct	p.T67A	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B), mRNA.	67										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CTGGGGAAACACTCCTCTACA	0.463													8	85					0	0	0.004482	0	0	G	21261086	A	G	21261086	3	3	129	1	0	0	0	0	1	0	0	0	691	159	6	3	205	3	ANKS4B	16	21261086	Missense_Mutation	SNP	A	TCGA-FG-5962-01B-11D-1893-08		21261086	69093667	38	5889											
BCKDK	10295	broad.mit.edu	37	chr16	31121057	31121057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccgcatcaagggcttcCgctgccttcctttcatcatt	6	13	6	16	2	4	0	4	0	0	0	6	0	6	0	4	1	1	3	4	1	1	4			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr16:31121057C>T	uc002eaw.4	+	3	644	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	BCKDK_uc002eav.4_Missense_Mutation_p.R110C|BCKDK_uc010cai.3_Missense_Mutation_p.R110C	NM_005881	NP_005872	O14874	BCKD_HUMAN	Homo sapiens branched chain ketoacid dehydrogenase kinase (BCKDK), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	110					branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	ATP binding|[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						CAAGGGCTTCCGCTGCCTTCC	0.587													11	96					0	0	0.010729	0	0	T	31121057	C	T	31121057	3	4	129	1	0	0	0	0	1	0	0	0	1361	652	23	2	338	2	BCKDK	16	31121057	Missense_Mutation	SNP	C	TCGA-FG-5962-01B-11D-1893-08	9859971	31121057	59233696	39	5890											
C17orf39	79018	broad.mit.edu	37	chr17	17948505	17948505	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttgtgggtacttgaagatTaaaggccttactgaggtaag	11	13	12	5	0	0	3	0	2	0	1	0	3	0	3	1	3	2	2	1	3	6	6			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr17:17948505T>G	uc002gsg.1	+	1	651	c.483T>G	c.(481-483)atT>atG	p.I161M		NM_024052	NP_076957	Q8IVV7	CQ039_HUMAN	Homo sapiens chromosome 17 open reading frame 39 (C17orf39), mRNA.	161										large_intestine(2)|lung(1)|ovary(2)|skin(1)	6	all_neural(463;0.228)					ACTTGAAGATTAAAGGCCTTA	0.483													13	90					0	0	0.006122	0	0	G	17948505	T	G	17948505	3	3	129	1	0	0	0	0	1	0	0	0	1855	1742	61	5	489	5	C17orf39	17	17948505	Missense_Mutation	SNP	T	TCGA-FG-5962-01B-11D-1893-08		17948505	63246705	40	5891											
COL1A1	1277	broad.mit.edu	37	chr17	48264128	48264128	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgagggtggtgtccacctcGaggtcacggtcacgaaccac	8	8	13	12	3	2	1	2	1	0	0	4	3	3	1	3	4	1	0	3	4	1	1			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr17:48264128G>A	uc002iqm.3	-	47	3813	c.3687C>T	c.(3685-3687)ctC>ctT	p.L1229L		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	1229	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TGTCCACCTCGAGGTCACGGT	0.627			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						11	284					0	0	0.013537	0	0	A	48264128	G	A	48264128	2	1	129	1	0	0	0	0	0	0	0	1	3677	1045	37	2		2	COL1A1	17	48264128	Silent	SNP	G	TCGA-FG-5962-01B-11D-1893-08	30315623	48264128	32931082	41	5892											
TMEM104	54868	broad.mit.edu	37	chr17	72832630	72832630	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggggcctacgcgggcaccgGcatccagtacgtcatccccg	7	5	13	16	5	1	0	1	0	0	0	3	0	3	0	5	4	2	3	5	4	2	2			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr17:72832630G>A	uc002jls.4	+	9	1457	c.1295G>A	c.(1294-1296)gGc>gAc	p.G432D	TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.3_Missense_Mutation_p.G432D	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	Homo sapiens transmembrane protein 104 (TMEM104), mRNA.	432						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GCGGGCACCGGCATCCAGTAC	0.652													4	49					0	0	0.014758	0	0	A	72832630	G	A	72832630	3	1	129	1	0	0	0	0	1	0	0	0	16015	1203	42	3	1329	3	TMEM104	17	72832630	Missense_Mutation	SNP	G	TCGA-FG-5962-01B-11D-1893-08	24568502	72832630	8362580	42	5893											
LAMA1	284217	broad.mit.edu	37	chr18	7036073	7036073	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgtgtatttcaggaatccGccaaacgcagtcagctgaaa	13	8	9	11	3	2	1	2	1	0	0	3	2	3	2	3	1	2	3	3	1	4	2	rs138401018	byFrequency	TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr18:7036073G>A	uc002knm.3	-	12	1846	c.1752C>T	c.(1750-1752)ggC>ggT	p.G584G	LAMA1_uc010wzj.2_Silent_p.G60G	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	584	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCAGGAATCCGCCAAACGCAG	0.453													4	53					0	0	0.001168	0	0	A	7036073	G	A	7036073	2	1	129	1	0	0	0	0	0	0	0	1	8605	1074	38	1		1	LAMA1	18	7036073	Silent	SNP	G	TCGA-FG-5962-01B-11D-1893-08		7036073	71041175	43	5894											
FSD1	79187	broad.mit.edu	37	chr19	4311913	4311913	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaccctggtgtggcgcatgCcggatgaggacagcaagatt	9	8	15	9	2	0	3	0	2	0	1	0	5	0	5	2	4	2	2	2	4	1	1			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr19:4311913C>T	uc002lzy.2	+	6	718	c.565C>T	c.(565-567)Ccg>Tcg	p.P189S	FSD1_uc002maa.2_Missense_Mutation_p.P2S	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 1 (FSD1), mRNA.	189	Fibronectin type-III.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGCGCATGCCGGATGAGGA	0.632													4	81					0	0	0.014758	0	0	T	4311913	C	T	4311913	3	4	129	1	0	0	0	0	1	0	0	0	6070	739	26	3	591	3	FSD1	19	4311913	Missense_Mutation	SNP	C	TCGA-FG-5962-01B-11D-1893-08		4311913	54817070	44	5895											
CLEC4M	10332	broad.mit.edu	37	chr19	7833752	7833752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtactggaacagtggagaaCccaacaatagcgggaatgaa	16	5	13	7	1	0	2	0	1	0	1	0	5	0	4	1	4	5	1	1	4	8	2			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr19:7833752C>T	uc010dvt.3	+	6	1196	c.1078C>T	c.(1078-1080)Ccc>Tcc	p.P360S	CLEC4M_uc002mih.3_Missense_Mutation_p.P337S|CLEC4M_uc010xjw.2_Missense_Mutation_p.P293S|CLEC4M_uc010dvs.3_Missense_Mutation_p.P336S|CLEC4M_uc010xjx.2_Missense_Mutation_p.P309S|CLEC4M_uc002mhz.3_Missense_Mutation_p.T230I|CLEC4M_uc002mic.3_Missense_Mutation_p.T294I|CLEC4M_uc002mia.3_Missense_Mutation_p.P224S	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	360	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CAGTGGAGAACCCAACAATAG	0.512													23	186					0	0	0.00632	0	0	T	7833752	C	T	7833752	3	4	129	1	0	0	0	0	1	0	0	0	3518	507	18	3	1125	3	CLEC4M	19	7833752	Missense_Mutation	SNP	C	TCGA-FG-5962-01B-11D-1893-08	3521839	7833752	51295231	45	5896											
CIC	23152	broad.mit.edu	37	chr19	42799059	42799059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttgaagatccgtgaggtgCgccagaagatcatgcaggct	11	8	14	8	2	1	5	1	2	0	3	2	5	2	5	2	2	2	3	2	2	2	1			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr19:42799059C>T	uc002otf.1	+	19	4583	c.4543C>T	c.(4543-4545)Cgc>Tgc	p.R1515C		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R1515L(1)|p.R1515H(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCGTGAGGTGCGCCAGAAGAT	0.632			"Mis, F, S"		oligodendroglioma								8	60					0	0	0.004482	0	0	T	42799059	C	T	42799059	3	4	129	1	0	0	0	0	1	0	0	0	3424	768	27	1	4621	1	CIC	19	42799059	Missense_Mutation	SNP	C	TCGA-FG-5962-01B-11D-1893-08	34965307	42799059	16329924	46	5897											
XRN2	22803	broad.mit.edu	37	chr20	21336757	21336757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggtgatgtcttatttgtggGgaaacatcacccactccatg	10	12	10	9	0	2	1	1	1	1	0	3	2	3	2	2	3	1	0	2	3	2	2			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr20:21336757G>A	uc002wsf.1	+	21	2155	c.2060G>A	c.(2059-2061)gGg>gAg	p.G687E	XRN2_uc002wsg.1_Missense_Mutation_p.G611E|XRN2_uc010zsk.1_Missense_Mutation_p.G633E	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	Homo sapiens 5'-3' exoribonuclease 2 (XRN2), mRNA.	687					DNA catabolic process, exonucleolytic|RNA catabolic process|cell growth|mRNA processing|regulation of transcription, DNA-dependent|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TTATTTGTGGGGAAACATCAC	0.383													16	128					0	0	0.007413	0	0	A	21336757	G	A	21336757	3	1	129	1	0	0	0	0	1	0	0	0	17457	1232	43	3	2146	3	XRN2	20	21336757	Missense_Mutation	SNP	G	TCGA-FG-5962-01B-11D-1893-08		21336757	41688763	47	5898											
GTSE1	51512	broad.mit.edu	37	chr22	46704680	46704680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaggcccgcctcacccGggcgccggggcctccgcact	3	4	13	21	5	1	0	1	0	0	0	2	0	2	0	7	4	1	1	7	4	0	0			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr22:46704680G>A	uc011aqy.2	+	3	814	c.602G>A	c.(601-603)cGg>cAg	p.R201Q	GTSE1_uc011aqz.2_Missense_Mutation_p.R48Q	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	Homo sapiens G-2 and S-phase expressed 1 (GTSE1), mRNA.	182					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		p.R182H(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CGCCTCACCCGGGCGCCGGGG	0.687													4	181					0	0	0.009096	0	0	A	46704680	G	A	46704680	3	1	129	1	0	0	0	0	1	0	0	0	6885	1116	39	2	612	2	GTSE1	22	46704680	Missense_Mutation	SNP	G	TCGA-FG-5962-01B-11D-1893-08		46704680	4599886	48	5899											
FAM48B1	100130302	broad.mit.edu	37	chrX	24382371	24382373	+	In_Frame_Del	DEL	TAT	TAT	-																															ccattttctgctgctgctgcTattgctgctgctgctgctgc																								rs72220486		TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chrX:24382371_24382373delTAT	uc011mjx.2	+	0	1494_1496	c.1494_1496delTAT	c.(1492-1497)gctatt>gct	p.I499del		NM_001136234	NP_001129706			Homo sapiens family with sequence similarity 48, member B1 (FAM48B1), mRNA.											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(1)|skin(1)	26						ctgctgctgctattgctgctgct	0.576													3	5	---	---	---	---						-	24382373	TAT	-	24382371	7	5	129	1	0	1	0	1	0	0	0	0	5573	1509	53	0	1496	0	FAM48B1	23	24382371	In_Frame_Del	DEL	TAT	TCGA-FG-5962-01B-11D-1893-08		24382371	130888189	49	5900											
COL4A6	1288	broad.mit.edu	37	chrX	107402954	107402954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaagggcatggtgctgaagCggggcagacaggagccagca	11	4	18	8	1	0	3	0	2	0	1	0	4	0	4	1	5	4	4	1	5	2	0			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chrX:107402954C>T	uc004enw.4	-	43	4656	c.4553G>A	c.(4552-4554)cGc>cAc	p.R1518H	COL4A6_uc004env.4_Missense_Mutation_p.R1517H|COL4A6_uc011msn.2_Missense_Mutation_p.R1493H|COL4A6_uc010npk.3_Missense_Mutation_p.R1460H|COL4A6_uc011msm.1_Missense_Mutation_p.R52H	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	1518	Collagen IV NC1.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGTGCTGAAGCGGGGCAGACA	0.562									Alport syndrome with Diffuse Leiomyomatosis				37	108					0	0	0.00623	0	0	T	107402954	C	T	107402954	3	4	129	1	0	0	0	0	1	0	0	0	3695	768	27	1	530	1	COL4A6	23	107402954	Missense_Mutation	SNP	C	TCGA-FG-5962-01B-11D-1893-08	83020583	107402954	47867606	50	5901											
ZCCHC12	170261	broad.mit.edu	37	chrX	117959418	117959418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgacccaagtcaatggcGtcctgccagattggaatatg	10	9	12	10	1	1	2	1	1	0	1	2	3	2	3	3	3	1	1	3	3	4	2			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chrX:117959418G>A	uc004equ.3	+	3	684	c.211G>A	c.(211-213)Gtc>Atc	p.V71I	ZCCHC12_uc022cdh.1_Missense_Mutation_p.V71I	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	Homo sapiens zinc finger, CCHC domain containing 12 (ZCCHC12), mRNA.	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	p.V71I(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						agtcaatggcgtcctgccaga	0.557													18	76					0	0	0.00499	0	0	A	117959418	G	A	117959418	3	1	129	1	0	0	0	0	1	0	0	0	17578	1145	40	1	213	1	ZCCHC12	23	117959418	Missense_Mutation	SNP	G	TCGA-FG-5962-01B-11D-1893-08	10556464	117959418	37311142	51	5902											
PM20D1	148811	broad.mit.edu	37	chr1	205814452	205814452	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agggaacattgcatctcagaCcatcacagagttcttgtcgt	11	11	9	10	1	3	2	2	0	2	2	5	3	3	3	1	1	2	2	1	1	1	3			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr1:205814452C>G	uc001hdj.3	-	3	565	c.489_splice	c.e3+1	p.M163_splice	PM20D1_uc009xbr.3_Splice_Site	NM_152491	NP_689704	Q6GTS8	P20D1_HUMAN	Homo sapiens peptidase M20 domain containing 1 (PM20D1), mRNA.	163						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GCATCTCAGACCATCACAGAG	0.547													4	62					0	0	0.184627	0	0	G	205814452	C	G	205814452	5	3	130	1	0	0	0	0	0	0	1	0	12128	521	18	5	1062	5	PM20D1	1	205814452	Splice_Site	SNP	C	TCGA-FG-5963-01A-11D-1705-08		205814452	43436169	1	5903											
KIDINS220	57498	broad.mit.edu	37	chr2	8958894	8958894	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttccagattgccttgttcGgcagctatcatcagtggagt	8	14	10	9	1	2	1	2	0	0	1	4	2	3	2	2	2	2	3	2	2	1	5			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr2:8958894G>A	uc002qzc.2	-	2	320	c.138C>T	c.(136-138)gcC>gcT	p.A46A	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Silent_p.A4A|KIDINS220_uc010yiw.1_Silent_p.A46A	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	46					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGCCTTGTTCGGCAGCTATCA	0.328													18	67					0	0	0.608945	0	0	A	8958894	G	A	8958894	2	1	130	1	0	0	0	0	0	0	0	1	8271	1103	39	2		2	KIDINS220	2	8958894	Silent	SNP	G	TCGA-FG-5963-01A-11D-1705-08		8958894	234240479	2	5904											
MAP4K4	9448	broad.mit.edu	37	chr2	102503626	102503626	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagaggttgaaagtgatctAtggatcctgtgctggattcc	9	12	12	8	0	1	3	0	2	1	1	3	5	3	5	3	3	1	2	3	3	2	3			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr2:102503626A>G	uc002tbc.3	+	28	3884	c.3506A>G	c.(3505-3507)tAt>tGt	p.Y1169C	MAP4K4_uc002tbf.3_Missense_Mutation_p.Y1122C|MAP4K4_uc002tbd.3_Missense_Mutation_p.Y1061C|MAP4K4_uc010yvy.2_Missense_Mutation_p.Y1084C|MAP4K4_uc002tbh.3_Missense_Mutation_p.Y1006C|MAP4K4_uc002tbg.3_Missense_Mutation_p.Y1088C|MAP4K4_uc002tbi.3_Missense_Mutation_p.Y891C|MAP4K4_uc010yvz.2_Missense_Mutation_p.Y1128C|MAP4K4_uc002tbk.3_Missense_Mutation_p.Y543C|MAP4K4_uc021vlq.1_Missense_Mutation_p.Y274C|MAP4K4_uc002tbl.3_Missense_Mutation_p.Y274C	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	1088	CNH.|Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAAGTGATCTATGGATCCTGT	0.423													3	17					0	0	0.115264	0	0	G	102503626	A	G	102503626	3	3	130	1	0	0	0	0	1	0	0	0	9262	449	16	3	3620	3	MAP4K4	2	102503626	Missense_Mutation	SNP	A	TCGA-FG-5963-01A-11D-1705-08	93544732	102503626	140695747	3	5905											
USP37	57695	broad.mit.edu	37	chr2	219418446	219418446	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catttttaatgttatgacttAgctaatcaagacaaaaggaa	17	13	6	5	0	1	2	1	1	0	1	1	3	1	3	0	1	1	2	0	1	8	6			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr2:219418446A>G	uc010fvs.1	-	5	570	c.157_splice	c.e5-1	p.L53_splice	USP37_uc002vie.2_Splice_Site_p.L53_splice|USP37_uc010zkf.1_Splice_Site_p.L53_splice|USP37_uc002vif.2_Splice_Site_p.L53_splice|USP37_uc002vig.2_Splice_Site|USP37_uc010zkg.2_Splice_Site_p.L53_splice	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	Homo sapiens ubiquitin specific peptidase 37 (USP37), mRNA.	53					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GTTATGACTTAGCTAATCAAG	0.318													3	43					0	0	0.150653	0	0	G	219418446	A	G	219418446	5	3	130	1	0	0	0	0	0	0	1	0	17065	434	15	4	2869	4	USP37	2	219418446	Splice_Site	SNP	A	TCGA-FG-5963-01A-11D-1705-08	116914820	219418446	23780927	4	5906											
CCDC66	285331	broad.mit.edu	37	chr3	56627603	56627603	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcagctgttctctcagtcaAcacacaaacaacctgagtac	13	9	5	14	0	4	1	3	1	1	0	5	1	4	1	1	0	5	3	1	0	4	2			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr3:56627603A>G	uc003dhz.3	+	8	1240	c.1153A>G	c.(1153-1155)Aca>Gca	p.T385A	CCDC66_uc003dhy.3_Missense_Mutation_p.T21A|CCDC66_uc003dhu.3_Missense_Mutation_p.T351A|CCDC66_uc003dhx.3_Non-coding_Transcript	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	Homo sapiens coiled-coil domain containing 66 (CCDC66), transcript variant 1, mRNA.	385										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		CTCTCAGTCAACACACAAACA	0.453													10	53					0	0	0.361761	0	0	G	56627603	A	G	56627603	3	3	130	1	0	0	0	0	1	0	0	0	2838	43	2	3	1187	3	CCDC66	3	56627603	Missense_Mutation	SNP	A	TCGA-FG-5963-01A-11D-1705-08		56627603	141394827	5	5907											
MYLK	4638	broad.mit.edu	37	chr3	123444812	123444812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attcagcagccaagtgatccGgggcactggggtcccccgta	8	7	13	13	2	1	1	1	1	0	0	3	1	3	1	4	4	2	3	4	4	2	2			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr3:123444812G>A	uc003ego.3	-	11	1912	c.1630C>T	c.(1630-1632)Cgg>Tgg	p.R544W	MYLK_uc011bjw.2_Missense_Mutation_p.R544W|MYLK_uc003egp.3_Missense_Mutation_p.R475W|MYLK_uc003egq.3_Missense_Mutation_p.R544W|MYLK_uc003egr.3_Missense_Mutation_p.R475W|MYLK_uc003egs.3_Missense_Mutation_p.R368W	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	544	Ig-like C2-type 4.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAAGTGATCCGGGGCACTGGG	0.617													12	19					0	0	0.411799	0	0	A	123444812	G	A	123444812	3	1	130	1	0	0	0	0	1	0	0	0	10056	1115	39	2	4206	2	MYLK	3	123444812	Missense_Mutation	SNP	G	TCGA-FG-5963-01A-11D-1705-08	66817209	123444812	74577618	6	5908											
UMPS	7372	broad.mit.edu	37	chr3	124449455	124449455	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcggggcatcgtgtctcGaccgcgtcttctgagtcagg	4	11	14	12	5	5	1	1	1	4	0	7	2	5	1	1	3	1	1	1	3	0	1			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr3:124449455G>T	uc003ehl.4	+	0	243	c.137G>T	c.(136-138)cGa>cTa	p.R46L	UMPS_uc011bkb.2_5'UTR|UMPS_uc003ehn.4_5'UTR|UMPS_uc003ehm.4_Non-coding_Transcript|UMPS_uc011bka.2_5'UTR|UMPS_uc011bkc.2_5'UTR|UMPS_uc011bkd.2_5'UTR	NM_000373	NP_000364	P11172	UMPS_HUMAN	Homo sapiens uridine monophosphate synthetase (UMPS), transcript variant 1, mRNA.	46	OPRTase.				'de novo' UMP biosynthetic process|'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		ATCGTGTCTCGACCGCGTCTT	0.587													11	31					2.80697e-09	3.09487e-09	0.38729	1	0	T	124449455	G	T	124449455	3	4	130	1	0	0	0	0	1	0	0	0	16978	1058	37	5	139	5	UMPS	3	124449455	Missense_Mutation	SNP	G	TCGA-FG-5963-01A-11D-1705-08	1004643	124449455	73572975	7	5909											
RAI14	26064	broad.mit.edu	37	chr5	34811934	34811934	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtggaagccttaattaaaaAgggtgcagacctaaaccttg	14	10	10	7	0	0	1	0	0	0	1	0	2	0	2	3	2	3	1	3	2	7	4			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr5:34811934A>G	uc003jis.3	+	10	1168	c.629A>G	c.(628-630)aAg>aGg	p.K210R	RAI14_uc003jir.3_Missense_Mutation_p.K207R|RAI14_uc010iur.3_Missense_Mutation_p.K207R|RAI14_uc011coj.2_Missense_Mutation_p.K207R|RAI14_uc010ius.1_Missense_Mutation_p.K136R|RAI14_uc003jit.3_Missense_Mutation_p.K207R|RAI14_uc011cok.2_Missense_Mutation_p.K199R	NM_001145525	NP_001138997	Q9P0K7	RAI14_HUMAN	Homo sapiens retinoic acid induced 14 (RAI14), transcript variant 6, mRNA.	207						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TTAATTAAAAAGGGTGCAGAC	0.383													3	78					0	0	0.115264	0	0	G	34811934	A	G	34811934	3	3	130	1	0	0	0	0	1	0	0	0	13008	72	3	4	715	4	RAI14	5	34811934	Missense_Mutation	SNP	A	TCGA-FG-5963-01A-11D-1705-08		34811934	146103326	8	5910											
RELN	5649	broad.mit.edu	37	chr7	103290796	103290796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctggtgttccgggttagtgCtgcgttaggaaggggaattg	6	12	17	6	2	0	0	0	0	0	0	1	2	1	2	2	5	2	4	2	5	4	4			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr7:103290796C>T	uc022ajr.1	-	15	2087	c.1927G>A	c.(1927-1929)Gca>Aca	p.A643T	RELN_uc022ajq.1_Missense_Mutation_p.A643T|RELN_uc010liz.3_Missense_Mutation_p.A643T	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	643					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CGGGTTAGTGCTGCGTTAGGA	0.403													3	77					0	0	0.115264	0	0	T	103290796	C	T	103290796	3	4	130	1	0	0	0	0	1	0	0	0	13220	797	28	3	8655	3	RELN	7	103290796	Missense_Mutation	SNP	C	TCGA-FG-5963-01A-11D-1705-08		103290796	55847867	9	5911											
COL22A1	169044	broad.mit.edu	37	chr8	139636001	139636001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagggggacccggctttcCatctctgccctctttgcctt	3	13	9	16	1	2	0	0	0	2	0	5	1	4	1	5	3	2	1	5	3	0	3			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr8:139636001C>T	uc003yvd.3	-	51	4192	c.3745G>A	c.(3745-3747)Gga>Aga	p.G1249R	COL22A1_uc011ljo.2_Missense_Mutation_p.G529R	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1249	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCCGGCTTTCCATCTCTGCCC	0.448										HNSCC(7;0.00092)			48	248					0	0	0.870114	0	0	T	139636001	C	T	139636001	3	4	130	1	0	0	0	0	1	0	0	0	3681	603	21	3	1191	3	COL22A1	8	139636001	Missense_Mutation	SNP	C	TCGA-FG-5963-01A-11D-1705-08		139636001	6728021	10	5912											
FAM75C1	441452	broad.mit.edu	37	chr9	90537434	90537434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgagcctggaatggccaCgaagtcagagacccagcctc	11	7	11	12	1	1	2	1	1	0	1	2	5	1	3	4	2	2	0	4	2	2	1			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr9:90537434C>T	uc010mqi.3	+	3	2641	c.2612C>T	c.(2611-2613)aCg>aTg	p.T871M	FAM75C1_uc004apq.4_Missense_Mutation_p.T854M|DQ578031_uc022bjg.1_5'Flank	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		GGAATGGCCACGAAGTCAGAG	0.507													22	97					0	0	0.667858	0	0	T	90537434	C	T	90537434	3	4	130	1	0	0	0	0	1	0	0	0	5623	536	19	1	2626	1	FAM75C1	9	90537434	Missense_Mutation	SNP	C	TCGA-FG-5963-01A-11D-1705-08		90537434	50675997	11	5913											
CCDC88B	283234	broad.mit.edu	37	chr11	64120928	64120928	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agctcctggagcgcagcctgGagagtcgggaccacctgcac	8	5	14	14	2	0	1	0	0	0	1	2	4	1	3	4	3	4	3	4	3	0	0			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr11:64120928G>C	uc001nzy.3	+	21	3842	c.3793G>C	c.(3793-3795)Gag>Cag	p.E1265Q	CCDC88B_uc009ypo.2_Missense_Mutation_p.E1262Q|CCDC88B_uc001oaa.3_Missense_Mutation_p.E417Q|CCDC88B_uc001oab.1_Missense_Mutation_p.E96Q|CCDC88B_uc001oac.3_5'UTR	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	1265					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCGCAGCCTGGAGAGTCGGGA	0.677													7	16					0	0	0.248553	0	0	C	64120928	G	C	64120928	3	2	130	1	0	0	0	0	1	0	0	0	2864	1175	41	5	3879	5	CCDC88B	11	64120928	Missense_Mutation	SNP	G	TCGA-FG-5963-01A-11D-1705-08		64120928	70885588	12	5914											
GUCY2C	2984	broad.mit.edu	37	chr12	14794127	14794127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgagagatgttggcttggcGgaggtgctctggagctgtcc	5	11	17	8	1	1	2	0	1	1	1	2	5	2	4	1	5	2	4	1	5	0	2	rs148314105		TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr12:14794127G>A	uc001rcd.3	-	17	2094	c.1957C>T	c.(1957-1959)Cgc>Tgc	p.R653C		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	653	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	p.R653H(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TTGGCTTGGCGGAGGTGCTCT	0.498													17	55					0	0	0.539581	0	0	A	14794127	G	A	14794127	3	1	130	1	0	0	0	0	1	0	0	0	6896	1116	39	2	1304	2	GUCY2C	12	14794127	Missense_Mutation	SNP	G	TCGA-FG-5963-01A-11D-1705-08		14794127	119057768	13	5915											
TXNDC16	57544	broad.mit.edu	37	chr14	52922041	52922041	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttattataaaacatactcaCaaacatttccagtagtgcat	16	13	3	9	0	1	0	1	0	0	0	2	0	2	0	1	0	4	2	1	0	7	6			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr14:52922041C>T	uc001wzs.3	-	18	2291	c.1842_splice	c.e18+1	p.F614_splice	TXNDC16_uc010tqu.2_Splice_Site_p.F609_splice|TXNDC16_uc010aoe.3_Splice_Site	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	Homo sapiens thioredoxin domain containing 16 (TXNDC16), transcript variant 1, mRNA.	614					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					AACATACTCACAAACATTTCC	0.358													13	39					0	0	0.479597	0	0	T	52922041	C	T	52922041	5	4	130	1	0	0	0	0	0	0	1	0	16792	492	17	3	650	3	TXNDC16	14	52922041	Splice_Site	SNP	C	TCGA-FG-5963-01A-11D-1705-08		52922041	54427499	14	5916											
CAPN3	825	broad.mit.edu	37	chr15	42676717	42676717	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgatttatcattgatggaGccaacagaactgacatctgt	12	11	8	10	1	2	3	1	2	1	1	2	5	2	4	2	1	3	0	2	1	3	3			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr15:42676717G>T	uc001zpn.1	+	1	652	c.346G>T	c.(346-348)Gcc>Tcc	p.A116S	CAPN3_uc001zpk.1_5'UTR|CAPN3_uc001zpl.1_Missense_Mutation_p.A29S|CAPN3_uc010udf.1_Missense_Mutation_p.A29S|CAPN3_uc010udg.1_Missense_Mutation_p.A29S|CAPN3_uc001zpo.1_Missense_Mutation_p.A116S|CAPN3_uc001zpp.1_Missense_Mutation_p.A116S	NM_000070	NP_000061	P20807	CAN3_HUMAN	Homo sapiens calpain 3, (p94) (CAPN3), transcript variant 1, mRNA.	116	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CATTGATGGAGCCAACAGAAC	0.433													23	85					0.000147802	0.000158887	0.706142	1	0	T	42676717	G	T	42676717	3	4	130	1	0	0	0	0	1	0	0	0	2628	971	34	5	404	5	CAPN3	15	42676717	Missense_Mutation	SNP	G	TCGA-FG-5963-01A-11D-1705-08		42676717	59854675	15	5917											
IGF1R	3480	broad.mit.edu	37	chr15	99434555	99434555	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctctctctccacagtGtgcccaagcacgtgtgggaa	7	10	9	15	1	3	0	0	0	3	0	6	1	3	1	3	1	2	1	3	1	2	0			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr15:99434555G>A	uc002bul.3	+	3	691	c.641_splice	c.e3-1	p.M214_splice	IGF1R_uc010urq.2_Splice_Site_p.M214_splice|IGF1R_uc010bon.3_Splice_Site_p.M214_splice	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	214					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of cell proliferation|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	TCTCCACAGTGTGCCCAAGCA	0.647													6	10					0	0	0.27861	0	0	A	99434555	G	A	99434555	5	1	130	1	0	0	0	0	0	0	1	0	7571	1391	48	3	652	3	IGF1R	15	99434555	Splice_Site	SNP	G	TCGA-FG-5963-01A-11D-1705-08	56757838	99434555	3096837	16	5918											
TP53	7157	broad.mit.edu	37	chr17	7578458	7578458	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgtagatggccatggcgcGgacgcgggtgccgggcgggg	4	6	21	10	6	0	1	0	0	0	1	0	2	0	2	2	7	1	1	2	7	1	2			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:7578458G>C	uc002gim.2	-	4	666	c.472C>G	c.(472-474)Cgc>Ggc	p.R158G	TP53_uc002gig.1_Missense_Mutation_p.R158G|TP53_uc002gih.3_Missense_Mutation_p.R158G|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R26G|TP53_uc010cnf.1_Missense_Mutation_p.R26G|TP53_uc002gii.1_Missense_Mutation_p.R26G|TP53_uc010cni.1_Missense_Mutation_p.R158G|TP53_uc010cnh.1_Missense_Mutation_p.R158G|TP53_uc002gij.2_Missense_Mutation_p.R158G|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R65G|TP53_uc002gio.2_Missense_Mutation_p.R26G|TP53_uc010vug.2_Missense_Mutation_p.R119G	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	158	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V157F(151)|p.R158H(66)|p.R158L(61)|p.R158C(34)|p.R158G(28)|p.R158fs*12(12)|p.V157I(10)|p.R158P(9)|p.R158fs*11(9)|p.V157D(8)|p.R158fs(8)|p.0?(8)|p.V157G(7)|p.V157L(6)|p.R158R(6)|p.V157V(5)|p.R158_A159delRA(4)|p.R156_I162delRVRAMAI(4)|p.V157fs*9(4)|p.R158_A159insX(4)|p.V157fs*22(4)|p.V157fs*13(3)|p.V157_C176del20(2)|p.R65fs(2)|p.R156_A161delRVRAMA(2)|p.R158F(2)|p.P151_V173del23(2)|p.R158fs*24(2)|p.R65G(2)|p.R156_R158delRVR(2)|p.V157del(2)|p.R26G(2)|p.R156_A161del(2)|p.P153fs*22(2)|p.V157_M160delVRAM(2)|p.V157_R158delVR(2)|p.T155_A161delTRVRAMA(2)|p.R26fs(2)|p.V157_I162delVRAMAI(2)|p.V157fs*21(2)|p.R158fs*8(2)|p.V157fs*24(2)|p.R156_V157insV(1)|p.R156fs*18(1)|p.V157A(1)|p.R26fs*11(1)|p.R156_V157del(1)|p.R158_A159insXX(1)|p.R156fs*12(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R158_A161del(1)|p.R156fs*20(1)|p.V157fs*23(1)|p.V157fs*25(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)		GCCATGGCGCGGACGCGGGTG	0.622		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)			19	33					0	0	0.575678	0	0	C	7578458	G	C	7578458	3	2	130	1	0	0	0	0	1	0	0	0	16378	1116	39	5	826	5	TP53	17	7578458	Missense_Mutation	SNP	G	TCGA-FG-5963-01A-11D-1705-08		7578458	73616752	17	5919											
MYH2	4620	broad.mit.edu	37	chr17	10442867	10442867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagactctggaggtaggccGccttgtcagcaactaaaaag	12	8	11	10	1	3	1	2	0	1	1	3	2	3	2	2	3	2	2	2	3	5	3			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:10442867G>A	uc010coi.3	-	12	1288	c.1160C>T	c.(1159-1161)gCg>gTg	p.A387V	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.A387V|MYH2_uc010coj.3_Missense_Mutation_p.A387V	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	387	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.A387V(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GAGGTAGGCCGCCTTGTCAGC	0.428													39	53					0	0	0.796494	0	0	A	10442867	G	A	10442867	3	1	130	1	0	0	0	0	1	0	0	0	10035	1087	38	1	4777	1	MYH2	17	10442867	Missense_Mutation	SNP	G	TCGA-FG-5963-01A-11D-1705-08	2864409	10442867	70752343	18	5920											
FAM83G	644815	broad.mit.edu	37	chr17	18874945	18874945	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagccatggctgggccagcGtttctggtagagctctggac	6	9	14	12	1	2	1	0	0	2	1	2	2	2	2	3	4	3	4	3	4	1	2			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:18874945G>A	uc002guw.3	-	5	2366	c.2199C>T	c.(2197-2199)aaC>aaT	p.N733N	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA.	733										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CTGGGCCAGCGTTTCTGGTAG	0.642													10	38					0	0	0.38729	0	0	A	18874945	G	A	18874945	2	1	130	1	0	0	0	0	0	0	0	1	5639	1136	40	1		1	FAM83G	17	18874945	Silent	SNP	G	TCGA-FG-5963-01A-11D-1705-08	8432078	18874945	62320265	19	5921											
NF1	4763	broad.mit.edu	37	chr17	29677227	29677227	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttacagtgtctgaagaagttCgaagtcgctgcagcctaaaa	13	10	10	8	2	1	2	0	1	1	1	3	3	1	2	1	0	3	3	1	0	6	3			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:29677227C>T	uc002hgg.3	+	49	7731	c.7348C>T	c.(7348-7350)Cga>Tga	p.R2450*	NF1_uc002hgh.3_Nonsense_Mutation_p.R2429*|NF1_uc010cso.3_Nonsense_Mutation_p.R638*|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_Non-coding_Transcript	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2450					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.R2450*(11)|p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGAAGAAGTTCGAAGTCGCTG	0.363			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			24	94					0	0	0.681144	0	0	T	29677227	C	T	29677227	4	4	130	1	0	0	0	0	0	1	0	0	10356	876	31	2	7607	2	NF1	17	29677227	Nonsense_Mutation	SNP	C	TCGA-FG-5963-01A-11D-1705-08	10802282	29677227	51517983	20	5922											
NF1	4763	broad.mit.edu	37	chr17	29683983	29683984	+	Frame_Shift_Ins	INS	-	-	A																															ctatcttgctgcagaaactcINSagaggatttcctcatcacaa																										TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:29683983_29683984insA	uc002hgg.3	+	52	8127_8128	c.7744_7745insA	c.(7744-7746)cagfs	p.Q2582fs	NF1_uc002hgh.3_Frame_Shift_Ins_p.Q2561fs|NF1_uc010cso.3_Frame_Shift_Ins_p.Q770fs|NF1_uc010wbt.1_Frame_Shift_Ins_p.Q60fs|NF1_uc010wbu.1_Non-coding_Transcript	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2582					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGCAGAAACTCAGAGGATTTCC	0.371			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			37	194	---	---	---	---						A	29683984	-	A	29683983	7	5	130	1	0	1	1	0	0	0	0	0	10356	827	29	0	8015	0	NF1	17	29683983	Frame_Shift_Ins	INS	-	TCGA-FG-5963-01A-11D-1705-08	6756	29683983	51511227	21	5923											
ACACA	31	broad.mit.edu	37	chr17	35580444	35580444	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatacttacctccagagctgCcatcctcactacttggttgc	9	12	6	14	0	1	1	1	0	0	1	3	1	3	1	4	1	6	2	4	1	4	5			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:35580444C>T	uc002hnm.3	-	27	3633	c.3442G>A	c.(3442-3444)Gca>Aca	p.A1148T	ACACA_uc002hnk.3_Missense_Mutation_p.A1070T|ACACA_uc002hnl.3_Missense_Mutation_p.A1090T|ACACA_uc002hnn.3_Missense_Mutation_p.A1148T|ACACA_uc002hno.3_Missense_Mutation_p.A1185T|ACACA_uc010cuz.3_Missense_Mutation_p.A1148T	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	1148					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding	p.N1147N(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TCCAGAGCTGCCATCCTCACT	0.403													20	118					0	0	0.575678	0	0	T	35580444	C	T	35580444	3	4	130	1	0	0	0	0	1	0	0	0	106	739	26	3	3714	3	ACACA	17	35580444	Missense_Mutation	SNP	C	TCGA-FG-5963-01A-11D-1705-08	5896461	35580444	45614766	22	5924											
ITGA2B	3674	broad.mit.edu	37	chr17	42455842	42455842	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccatctgcagctccaggAcattatctgccccaactagg	9	9	8	15	1	2	0	0	0	2	0	4	1	4	1	4	2	4	2	4	2	3	2			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:42455842A>C	uc002igt.1	-	19	2014	c.1982T>G	c.(1981-1983)gTc>gGc	p.V661G	ITGA2B_uc002igu.1_Missense_Mutation_p.V142G	NM_000419	NP_000410	P08514	ITA2B_HUMAN	Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA.	661					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CAGCTCCAGGACATTATCTGC	0.657													4	17					0	0	0.184627	0	0	C	42455842	A	C	42455842	3	2	130	1	0	0	0	0	1	0	0	0	7876	275	10	5	1181	5	ITGA2B	17	42455842	Missense_Mutation	SNP	A	TCGA-FG-5963-01A-11D-1705-08	6875398	42455842	38739368	23	5925											
MAPRE2	10982	broad.mit.edu	37	chr18	32677539	32677539	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaagcatcatttaagcGaatgaacgttgataaggtag	14	11	10	6	2	2	2	1	2	1	0	2	3	2	2	0	1	4	4	0	1	6	5			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr18:32677539G>T	uc002kyg.3	+	2	560	c.380G>T	c.(379-381)cGa>cTa	p.R127L	MAPRE2_uc010xcb.2_Missense_Mutation_p.R84L|MAPRE2_uc010xcc.2_Missense_Mutation_p.R115L|MAPRE2_uc002kyf.2_Missense_Mutation_p.R127L|MAPRE2_uc002kyh.3_Missense_Mutation_p.R74L|MAPRE2_uc010xcd.2_Missense_Mutation_p.R84L	NM_014268	NP_001137298	Q15555	MARE2_HUMAN	Homo sapiens microtubule-associated protein, RP/EB family, member 2 (MAPRE2), transcript variant 1, mRNA.	127	CH.				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						TCATTTAAGCGAATGAACGTT	0.343													7	33					6.5536e-12	7.61635e-12	0.27861	1	0	T	32677539	G	T	32677539	3	4	130	1	0	0	0	0	1	0	0	0	9295	1058	37	5	484	5	MAPRE2	18	32677539	Missense_Mutation	SNP	G	TCGA-FG-5963-01A-11D-1705-08		32677539	45399709	24	5926											
DYM	54808	broad.mit.edu	37	chr18	46812851	46812851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgtctgtaggggtttggcGcatctgaggcatctgtcaga	6	13	14	8	1	4	2	1	1	3	1	4	2	4	2	0	4	0	4	0	4	1	3			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr18:46812851G>A	uc002ldi.1	-	8	1264	c.899C>T	c.(898-900)gCg>gTg	p.A300V	DYM_uc010xdf.1_Missense_Mutation_p.A110V|DYM_uc002ldj.3_Missense_Mutation_p.A122V	NM_017653	NP_060123	Q7RTS9	DYM_HUMAN	Homo sapiens dymeclin (DYM), mRNA.	300						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						GGGGTTTGGCGCATCTGAGGC	0.488													17	107					0	0	0.520397	0	0	A	46812851	G	A	46812851	3	1	130	1	0	0	0	0	1	0	0	0	4840	1087	38	1	1146	1	DYM	18	46812851	Missense_Mutation	SNP	G	TCGA-FG-5963-01A-11D-1705-08	14135312	46812851	31264397	25	5927											
LILRA1	11024	broad.mit.edu	37	chr19	55107882	55107882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcccactcggggacctacaGgtgctacggctcactcagct	8	7	11	15	2	2	0	2	0	0	0	3	1	2	1	2	4	5	3	2	4	2	2			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr19:55107882G>A	uc002qgh.1	+	6	1369	c.1187G>A	c.(1186-1188)aGg>aAg	p.R396K	LILRA1_uc010yfg.1_Missense_Mutation_p.R394K|LILRA1_uc010yfh.2_Missense_Mutation_p.R396K	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	396	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.Y395S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GGGACCTACAGGTGCTACGGC	0.587													22	88					0	0	0.608945	0	0	A	55107882	G	A	55107882	3	1	130	1	0	0	0	0	1	0	0	0	8784	1000	35	3	1209	3	LILRA1	19	55107882	Missense_Mutation	SNP	G	TCGA-FG-5963-01A-11D-1705-08		55107882	4021101	26	5928											
ZNF17	7565	broad.mit.edu	37	chr19	57932287	57932287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttatgaatgcagtgaatgtgGcaaattctttgtggacagct	11	14	11	5	0	1	2	0	2	1	0	1	3	1	3	0	2	2	3	0	2	4	3			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr19:57932287G>A	uc002qop.1	+	3	1699	c.1433G>A	c.(1432-1434)gGc>gAc	p.G478D	ZNF17_uc021vck.1_Missense_Mutation_p.G469D|ZNF17_uc002qoo.1_Missense_Mutation_p.G476D	NM_006959	NP_008890	P17021	ZNF17_HUMAN	Homo sapiens zinc finger protein 17 (ZNF17), mRNA.	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		AGTGAATGTGGCAAATTCTTT	0.413													5	138					0	0	0.184627	0	0	A	57932287	G	A	57932287	3	1	130	1	0	0	0	0	1	0	0	0	17740	1203	42	3	1437	3	ZNF17	19	57932287	Missense_Mutation	SNP	G	TCGA-FG-5963-01A-11D-1705-08	2824405	57932287	1196696	27	5929											
RTEL1	51750	broad.mit.edu	37	chr20	62321451	62321451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accccccaggttcgcctttgCcgacgcaagagcccaactgc	8	6	9	18	3	0	1	0	0	0	1	1	2	0	1	6	1	4	2	6	1	2	2			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr20:62321451C>T	uc021wge.1	+	23	2323	c.2153C>T	c.(2152-2154)gCc>gTc	p.A718V	RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_Missense_Mutation_p.A718V|RTEL1_uc011abd.2_Missense_Mutation_p.A742V|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_Missense_Mutation_p.A495V|RTEL1_uc002yfx.1_5'UTR	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	718					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			TTCGCCTTTGCCGACGCAAGA	0.617													3	82					0	0	0.150653	0	0	T	62321451	C	T	62321451	3	4	130	1	0	0	0	0	1	0	0	0	13720	739	26	3	2247	3	RTEL1	20	62321451	Missense_Mutation	SNP	C	TCGA-FG-5963-01A-11D-1705-08		62321451	704069	28	5930											
LMF2	91289	broad.mit.edu	37	chr22	50943889	50943889	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggccaaagtagtgcaCagtgccataggccagaagcc	12	5	11	13	0	0	1	0	0	0	1	1	1	1	1	5	2	3	2	5	2	4	2			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr22:50943889C>A	uc003blp.2	-	6	1025	c.994G>T	c.(994-996)Gtg>Ttg	p.V332L	LMF2_uc003blo.2_Missense_Mutation_p.V307L|NCAPH2_uc003blq.4_5'Flank|NCAPH2_uc003blv.3_5'Flank|NCAPH2_uc003blx.4_5'Flank|NCAPH2_uc003blr.4_5'Flank	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN	Homo sapiens lipase maturation factor 2 (LMF2), mRNA.	332						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AAGTAGTGCACAGTGCCATAG	0.662													20	85					7.45023e-12	8.43052e-12	0.592651	1	0	A	50943889	C	A	50943889	3	1	130	1	0	0	0	0	1	0	0	0	8846	478	17	5	1161	5	LMF2	22	50943889	Missense_Mutation	SNP	C	TCGA-FG-5963-01A-11D-1705-08		50943889	360677	29	5931											
ZNF630	57232	broad.mit.edu	37	chrX	47920207	47920207	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgcccttacccacggagaCcaggtgattataggtctcca	9	10	9	13	1	2	2	0	1	2	1	3	3	2	2	4	3	2	0	4	3	3	3			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chrX:47920207C>A	uc004div.4	-	2	385	c.133G>T	c.(133-135)Gtc>Ttc	p.V45F	ZNF630_uc010nhz.1_Non-coding_Transcript|ZNF630_uc022bvr.1_Missense_Mutation_p.V31F|ZNF630_uc022bvs.1_Missense_Mutation_p.V45F	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN	Homo sapiens zinc finger protein 630 (ZNF630), transcript variant 1, mRNA.	45	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						CCCACGGAGACCAGGTGATTA	0.483													7	4					0.00198382	0.00208059	0.248553	1	0	A	47920207	C	A	47920207	3	1	130	1	0	0	0	0	1	0	0	0	18051	507	18	5	1852	5	ZNF630	23	47920207	Missense_Mutation	SNP	C	TCGA-FG-5963-01A-11D-1705-08		47920207	107350353	30	5932											
GSPT2	23708	broad.mit.edu	37	chrX	51488255	51488255	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggattcatactttgtgaTcctagtaacctctgccattc	9	14	6	12	0	2	1	1	1	1	0	4	2	3	2	4	1	3	1	4	1	3	6			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chrX:51488255T>A	uc004dpl.3	+	0	1775	c.1533T>A	c.(1531-1533)gaT>gaA	p.D511E		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.	511					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					TACTTTGTGATCCTAGTAACC	0.418													23	25					0	0	0.624587	0	0	A	51488255	T	A	51488255	3	1	130	1	0	0	0	0	1	0	0	0	6827	1432	50	5	1535	5	GSPT2	23	51488255	Missense_Mutation	SNP	T	TCGA-FG-5963-01A-11D-1705-08	3568048	51488255	103782305	31	5933											
ATRX	546	broad.mit.edu	37	chrX	76813115	76813115	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaatcttatcttccatggttCcctttgtaaaaagaaggaag	14	13	7	7	0	2	1	0	0	2	1	4	2	4	2	2	2	0	2	2	2	7	5			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chrX:76813115C>T	uc004ecp.4	-	30	6737	c.6505_splice	c.e30-1	p.G2169_splice	ATRX_uc004ecq.4_Splice_Site_p.G2131_splice|ATRX_uc004eco.4_Splice_Site_p.G1954_splice	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2169	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTCCATGGTTCCCTTTGTAAA	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						19	26					0	0	0.575678	0	0	T	76813115	C	T	76813115	5	4	130	1	0	0	0	0	0	0	1	0	1208	869	30	3	996	3	ATRX	23	76813115	Splice_Site	SNP	C	TCGA-FG-5963-01A-11D-1705-08	25324860	76813115	78457445	32	5934											
UQCRH	7388	broad.mit.edu	37	chr1	46775912	46775912	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctagagctctgtgatgagcGtgtatcctctcgatcacata	9	12	10	10	2	3	3	1	2	2	1	5	4	4	3	1	0	2	3	1	0	3	3			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr1:46775912G>A	uc001cpp.3	+	2	226	c.167G>A	c.(166-168)cGt>cAt	p.R56H	UQCRH_uc001cpq.3_Non-coding_Transcript	NM_006004	NP_005995	P07919	QCR6_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase hinge protein (UQCRH), nuclear gene encoding mitochondrial protein, mRNA.	56					aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c		ubiquinol-cytochrome-c reductase activity			large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					TGTGATGAGCGTGTATCCTCT	0.512													5	48					0	0	0.248553	0	0	A	46775912	G	A	46775912	3	1	131	1	0	0	0	0	1	0	0	0	17019	1145	40	1	177	1	UQCRH	1	46775912	Missense_Mutation	SNP	G	TCGA-FG-5964-01A-11D-1705-08		46775912	202474709	1	5935											
FAM5B	57795	broad.mit.edu	37	chr1	177247827	177247827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgggagctggcttgaaaGtgctgttcaaaaagacccat	12	9	12	8	0	1	2	1	1	0	1	1	3	1	3	1	2	3	5	1	2	3	2			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr1:177247827G>A	uc001glf.3	+	6	1453	c.1141G>A	c.(1141-1143)Gtg>Atg	p.V381M	FAM5B_uc010pna.1_Missense_Mutation_p.V131M|FAM5B_uc001glg.3_Missense_Mutation_p.V276M	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	381						extracellular region		p.V381M(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TGGCTTGAAAGTGCTGTTCAA	0.607													46	95					0	0	0.864702	0	0	A	177247827	G	A	177247827	3	1	131	1	0	0	0	0	1	0	0	0	5593	1029	36	3	1163	3	FAM5B	1	177247827	Missense_Mutation	SNP	G	TCGA-FG-5964-01A-11D-1705-08	130471915	177247827	72002794	2	5936											
OBSCN	84033	broad.mit.edu	37	chr1	228529314	228529314	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtctggccctgcctgtgtgGcgtgagtgtccaccttcccg	2	11	13	15	3	1	1	0	1	1	0	3	1	3	1	5	2	1	0	5	2	0	1			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr1:228529314G>A	uc009xez.1	+	74	18078	c.18034_splice	c.e74+1	p.R6012_splice	OBSCN_uc001hsn.3_Splice_Site_p.R6012_splice|OBSCN_uc001hsr.1_Splice_Site_p.R641_splice	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6012					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCCTGTGTGGCGTGAGTGTC	0.672													5	18					0	0	0.217242	0	0	A	228529314	G	A	228529314	5	1	131	1	0	0	0	0	0	0	1	0	10812	1217	42	3	18323	3	OBSCN	1	228529314	Splice_Site	SNP	G	TCGA-FG-5964-01A-11D-1705-08	51281487	228529314	20721307	3	5937											
SIPA1L2	57568	broad.mit.edu	37	chr1	232607260	232607260	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acgatgtcatttcctatgtgCcttttcctcagtagctgtgg	6	16	9	10	1	2	0	2	0	0	0	4	1	4	0	3	1	2	2	3	1	2	5			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr1:232607260C>T	uc001hvg.3	-	5	2258	c.2100G>A	c.(2098-2100)agG>agA	p.R700R		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	700	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTCCTATGTGCCTTTTCCTCA	0.383													26	66					0	0	0.681144	0	0	T	232607260	C	T	232607260	2	4	131	1	0	0	0	0	0	0	0	1	14330	738	26	3		3	SIPA1L2	1	232607260	Silent	SNP	C	TCGA-FG-5964-01A-11D-1705-08	4077946	232607260	16643361	4	5938											
ALMS1	7840	broad.mit.edu	37	chr2	73836722	73836722	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaatcaacttctggggagaAaagttccctgggactgacac	12	8	10	11	0	2	2	1	1	1	1	3	4	3	3	2	3	1	1	2	3	4	2			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr2:73836722A>G	uc002sje.1	+	22	12598	c.12487A>G	c.(12487-12489)Aaa>Gaa	p.K4163E	ALMS1_uc002sjf.1_Missense_Mutation_p.K4121E	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	4163					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCTGGGGAGAAAAGTTCCCTG	0.433													11	68					0	0	0.457914	0	0	G	73836722	A	G	73836722	3	3	131	1	0	0	0	0	1	0	0	0	535	15	1	3	12577	3	ALMS1	2	73836722	Missense_Mutation	SNP	A	TCGA-FG-5964-01A-11D-1705-08		73836722	169362651	5	5939											
MARCO	8685	broad.mit.edu	37	chr2	119739756	119739756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggactgcagggtgttcCgggccctcctggtgcagtgg	4	9	16	12	1	0	0	0	0	0	0	2	1	2	1	4	5	2	3	4	5	0	1			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr2:119739756C>T	uc002tln.1	+	10	1058	c.926C>T	c.(925-927)cCg>cTg	p.P309L	MARCO_uc010yyf.1_Missense_Mutation_p.P231L	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	309	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CAGGGTGTTCCGGGCCCTCCT	0.642													15	25					0	0	0.500413	0	0	T	119739756	C	T	119739756	3	4	131	1	0	0	0	0	1	0	0	0	9311	652	23	2	968	2	MARCO	2	119739756	Missense_Mutation	SNP	C	TCGA-FG-5964-01A-11D-1705-08	45903034	119739756	123459617	6	5940											
WDR33	55339	broad.mit.edu	37	chr2	128463958	128463961	+	Frame_Shift_Del	DEL	CTCC	CTCC	-																															gcgggccagagttcatgttaCtccctctaccccagttactg																										TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr2:128463958_128463961delCTCC	uc002tpg.2	-	21	4146_4149	c.3947_3950delGGAG	c.(3946-3951)gggagtfs	p.G1316fs		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	1316					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GTTCATGTTACTCCCTCTACCCCA	0.613													11	187	---	---	---	---						-	128463961	CTCC	-	128463958	7	5	131	1	0	1	0	1	0	0	0	0	17284	565	20	0	64	0	WDR33	2	128463958	Frame_Shift_Del	DEL	CTCC	TCGA-FG-5964-01A-11D-1705-08	8724202	128463958	114735415	7	5941											
CLK1	1195	broad.mit.edu	37	chr2	201726490	201726493	+	Frame_Shift_Del	DEL	CTTC	CTTC	-																															tgggcactgctatgtgatctCttccttcttttatgactgct																										TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr2:201726490_201726493delCTTC	uc002uwe.2	-	1	274_277	c.93_96delGAAG	c.(91-96)aggaagfs	p.R31fs	CLK1_uc010zhi.1_Frame_Shift_Del_p.R73fs|CLK1_uc002uwf.2_5'UTR|CLK1_uc002uwg.2_5'UTR	NM_004071	NP_004062	P49759	CLK1_HUMAN	Homo sapiens CDC-like kinase 1 (CLK1), transcript variant 1, mRNA.	31					cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TATGTGATCTCTTCCTTCTTTTAT	0.397													45	166	---	---	---	---						-	201726493	CTTC	-	201726490	7	5	131	1	0	1	0	1	0	0	0	0	3536	912	32	0	1406	0	CLK1	2	201726490	Frame_Shift_Del	DEL	CTTC	TCGA-FG-5964-01A-11D-1705-08	73262532	201726490	41472883	8	5942											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								15	59					0	0	0.500413	0	0	T	209113112	C	T	209113112	3	4	131	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-5964-01A-11D-1705-08	7386622	209113112	34086261	9	5943											
HCLS1	3059	broad.mit.edu	37	chr3	121351926	121351926	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttacctccgggagagtCtgcctaatgggcagcaaggg	8	9	14	10	1	1	1	0	0	1	1	2	2	2	1	3	3	4	3	3	3	3	3			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr3:121351926C>A	uc003eeh.4	-	10	1121	c.996G>T	c.(994-996)caG>caT	p.Q332H	HCLS1_uc011bjj.2_Missense_Mutation_p.Q295H|HCLS1_uc011bjk.1_Non-coding_Transcript	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	332					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CCGGGAGAGTCTGCCTAATGG	0.587													6	19					8.12818e-05	8.67006e-05	0.248553	1	0	A	121351926	C	A	121351926	3	1	131	1	0	0	0	0	1	0	0	0	6995	912	32	5	480	5	HCLS1	3	121351926	Missense_Mutation	SNP	C	TCGA-FG-5964-01A-11D-1705-08		121351926	76670504	10	5944											
RBPJ	3516	broad.mit.edu	37	chr4	26426086	26426088	+	In_Frame_Del	DEL	TTT	TTT	-																															gttcacagcagtggggagccTtttttattcatctctgtgag																										TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr4:26426086_26426088delTTT	uc003grx.2	+	6	894_896	c.658_660delTTT	c.(658-660)tttdel	p.F221del	RBPJ_uc003gry.2_In_Frame_Del_p.F206del|RBPJ_uc003grz.2_In_Frame_Del_p.F221del|RBPJ_uc011bxt.2_In_Frame_Del_p.F221del|RBPJ_uc003gsa.2_In_Frame_Del_p.F207del|RBPJ_uc003gsb.2_In_Frame_Del_p.F208del	NM_005349	NP_005340	Q06330	SUH_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region (RBPJ), transcript variant 1, mRNA.	221					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				GTGGGGAGCCTTTTTTATTCATC	0.36													28	79	---	---	---	---						-	26426088	TTT	-	26426086	7	5	131	1	0	1	0	1	0	0	0	0	13161	1609	56	0	743	0	RBPJ	4	26426086	In_Frame_Del	DEL	TTT	TCGA-FG-5964-01A-11D-1705-08		26426086	164728190	11	5945											
BBS7	55212	broad.mit.edu	37	chr4	122782768	122782768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aataaaaattttctcctgagGtgtgttgataacccctccca	12	13	6	10	0	1	2	0	2	1	0	3	2	2	2	4	1	1	1	4	1	5	5			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr4:122782768G>A	uc003ied.3	-	3	416	c.232C>T	c.(232-234)Cct>Tct	p.P78S	BBS7_uc003iee.2_Missense_Mutation_p.P78S|BBS7_uc010inq.1_Missense_Mutation_p.P34S	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Homo sapiens Bardet-Biedl syndrome 7 (BBS7), transcript variant 1, mRNA.	78					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTCTCCTGAGGTGTGTTGATA	0.418									Bardet-Biedl syndrome				23	10					0	0	0.639603	0	0	A	122782768	G	A	122782768	3	1	131	1	0	0	0	0	1	0	0	0	1341	1261	44	3	1984	3	BBS7	4	122782768	Missense_Mutation	SNP	G	TCGA-FG-5964-01A-11D-1705-08	96356682	122782768	68371508	12	5946											
CAST	831	broad.mit.edu	37	chr5	96077000	96077000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagatgatgctatagacGccttgtcatctgacttcacc	9	11	9	12	1	3	4	2	2	1	2	3	4	3	4	3	1	1	1	3	1	2	4			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr5:96077000G>A	uc011cuo.1	+	12	922	c.838G>A	c.(838-840)Gcc>Acc	p.A280T	CAST_uc003klt.3_Missense_Mutation_p.A221T|CAST_uc021ybr.1_Missense_Mutation_p.A282T|CAST_uc003klx.3_Missense_Mutation_p.A276T|CAST_uc003klz.1_Missense_Mutation_p.A234T|CAST_uc011cuq.2_Missense_Mutation_p.A82T|CAST_uc021ybs.1_Missense_Mutation_p.A234T|CAST_uc021ybt.1_Missense_Mutation_p.A199T|CAST_uc011cut.2_Missense_Mutation_p.A162T|CAST_uc011cur.2_Missense_Mutation_p.A220T|CAST_uc011cus.2_Missense_Mutation_p.A221T|CAST_uc003kma.2_Missense_Mutation_p.A193T|CAST_uc003kmd.3_Missense_Mutation_p.A212T|CAST_uc010jbj.3_5'UTR|CAST_uc003kmh.3_5'UTR|CAST_uc010jbk.2_5'Flank|CAST_uc003kmi.3_5'Flank|CAST_uc010jbl.2_5'Flank	NM_173060	NP_775083	P20810	ICAL_HUMAN	Homo sapiens calpastatin (CAST), transcript variant 2, mRNA.	234							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		TGCTATAGACGCCTTGTCATC	0.433													21	29					0	0	0.608945	0	0	A	96077000	G	A	96077000	3	1	131	1	0	0	0	0	1	0	0	0	2684	1087	38	1	1003	1	CAST	5	96077000	Missense_Mutation	SNP	G	TCGA-FG-5964-01A-11D-1705-08		96077000	84838260	13	5947											
HIST1H3C	8352	broad.mit.edu	37	chr6	26045799	26045799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccttgcgcgaaatccgtcGctaccagaagtccaccgagc	9	6	11	15	5	0	1	0	0	0	1	3	3	2	1	5	1	3	1	5	1	3	2			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr6:26045799G>A	uc003nfv.3	+	0	161	c.161G>A	c.(160-162)cGc>cAc	p.R54H	HIST1H2BB_uc003nfu.3_5'Flank	NM_003531	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3c (HIST1H3C), mRNA.	54					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GAAATCCGTCGCTACCAGAAG	0.622													5	35					0	0	0.184627	0	0	A	26045799	G	A	26045799	3	1	131	1	0	0	0	0	1	0	0	0	7157	1087	38	1	163	1	HIST1H3C	6	26045799	Missense_Mutation	SNP	G	TCGA-FG-5964-01A-11D-1705-08		26045799	145069268	14	5948											
MRPS18B	28973	broad.mit.edu	37	chr6	30587286	30587287	+	Frame_Shift_Del	DEL	TT	TT	-																															gtaggttcccctccagactcTttgcaccaaagctccctctg																										TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr6:30587286_30587287delTT	uc003nqo.2	+	1	252_253	c.95_96delTT	c.(94-96)cttfs	p.L32fs	PPP1R10_uc003nqn.1_5'Flank|PPP1R10_uc010jsc.1_5'Flank|MRPS18B_uc011dml.1_Frame_Shift_Del_p.L32fs	NM_014046	NP_054765	Q9Y676	RT18B_HUMAN	Homo sapiens mitochondrial ribosomal protein S18B (MRPS18B), nuclear gene encoding mitochondrial protein, mRNA.	32					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						CTCCAGACTCTTTGCACCAAAG	0.401													13	81	---	---	---	---						-	30587287	TT	-	30587286	7	5	131	1	0	1	0	1	0	0	0	0	9829	1609	56	0	101	0	MRPS18B	6	30587286	Frame_Shift_Del	DEL	TT	TCGA-FG-5964-01A-11D-1705-08	4541487	30587286	140527781	15	5949											
RIPPLY2	134701	broad.mit.edu	37	chr6	84567021	84567021	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagaagcagaagctcttctGaaaaattttccaattcaagc	16	10	6	9	0	3	3	1	1	2	2	4	3	4	3	1	0	3	2	1	0	7	4			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr6:84567021G>A	uc003pke.3	+	3	451	c.300G>A	c.(298-300)ctG>ctA	p.L100L	CYB5R4_uc003pkf.3_5'Flank	NM_001009994	NP_001009994	Q5TAB7	RIPP2_HUMAN	Homo sapiens ripply2 homolog (zebrafish) (RIPPLY2), mRNA.	100	Ripply homology domain.				somite rostral/caudal axis specification	nucleus				large_intestine(2)|lung(4)|urinary_tract(1)	7						AAGCTCTTCTGAAAAATTTTC	0.308													5	70					0	0	0.361761	0	0	A	84567021	G	A	84567021	2	1	131	1	0	0	0	0	0	0	0	1	13385	1277	45	3		3	RIPPLY2	6	84567021	Silent	SNP	G	TCGA-FG-5964-01A-11D-1705-08	53979735	84567021	86548046	16	5950											
FUCA2	2519	broad.mit.edu	37	chr6	143823182	143823182	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcagtcgctcctcaaaaacTacagaaatggtgccatctag	13	9	7	12	1	3	1	2	0	1	1	5	1	4	1	2	1	3	1	2	1	5	2			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr6:143823182T>C	uc003qjm.3	-	4	1290	c.1041A>G	c.(1039-1041)gtA>gtG	p.V347V	FUCA2_uc003qjn.3_Silent_p.V101V	NM_032020	NP_114409	Q9BTY2	FUCO2_HUMAN	Homo sapiens fucosidase, alpha-L- 2, plasma (FUCA2), mRNA.	347					fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		CCTCAAAAACTACAGAAATGG	0.408													23	30					0	0	0.654019	0	0	C	143823182	T	C	143823182	2	2	131	1	0	0	0	0	0	0	0	1	6095	1509	53	4		4	FUCA2	6	143823182	Silent	SNP	T	TCGA-FG-5964-01A-11D-1705-08	59256161	143823182	27291885	17	5951											
ARL4A	10124	broad.mit.edu	37	chr7	12728267	12728268	+	Frame_Shift_Ins	INS	-	-	T																															aaatcagggagtccctgtacINSttatagttgctaacaaacaa																										TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr7:12728267_12728268insT	uc003ssp.3	+	1	694_695	c.388_389insT	c.(388-390)cttfs	p.L130fs	ARL4A_uc003ssq.3_Frame_Shift_Ins_p.L130fs|ARL4A_uc021zzq.1_Frame_Shift_Ins_p.L130fs|ARL4A_uc003sss.3_Frame_Shift_Ins_p.L130fs|ARL4A_uc021zzr.1_Frame_Shift_Ins_p.L130fs	NM_001037164	NP_997625	P40617	ARL4A_HUMAN	Homo sapiens ADP-ribosylation factor-like 4A (ARL4A), transcript variant 3, mRNA.	130					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		AGTCCCTGTACTTATAGTTGCT	0.381													8	82	---	---	---	---						T	12728268	-	T	12728267	7	5	131	1	0	1	1	0	0	0	0	0	936	565	20	0	390	0	ARL4A	7	12728267	Frame_Shift_Ins	INS	-	TCGA-FG-5964-01A-11D-1705-08		12728267	146410396	18	5952											
EVX1	2128	broad.mit.edu	37	chr7	27282671	27282671	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggagagccgaaaggacatgGttgtgtttctggatgggggt	8	11	18	4	1	1	1	0	0	1	1	1	5	1	3	1	6	1	2	1	6	1	2			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr7:27282671G>C	uc003szd.1	+	0	508	c.22G>C	c.(22-24)Gtt>Ctt	p.V8L	EVX1_uc011jzn.1_5'UTR|EVX1_uc010kuy.1_Missense_Mutation_p.V8L	NM_001989	NP_001980	P49640	EVX1_HUMAN	Homo sapiens even-skipped homeobox 1 (EVX1), mRNA.	8						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						AAAGGACATGGTTGTGTTTCT	0.642													3	7					0	0	0.115264	0	0	C	27282671	G	C	27282671	3	2	131	1	0	0	0	0	1	0	0	0	5294	1261	44	5	24	5	EVX1	7	27282671	Missense_Mutation	SNP	G	TCGA-FG-5964-01A-11D-1705-08	14554404	27282671	131855992	19	5953											
NRCAM	4897	broad.mit.edu	37	chr7	107808830	107808830	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagtaagattgctgatccTgggatttactgcttgaacta	11	13	10	7	0	0	3	0	2	0	1	1	4	1	4	1	1	5	4	1	1	4	6			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr7:107808830T>C	uc022aka.1	-	25	3311	c.3205A>G	c.(3205-3207)Agg>Ggg	p.R1069G	NRCAM_uc011kmk.2_Intron|NRCAM_uc003vfd.3_Intron|NRCAM_uc003vfe.3_Intron|NRCAM_uc003vfc.3_Intron|NRCAM_uc011kmj.2_Intron	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA.	1069	Fibronectin type-III 5.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTGCTGATCCTGGGATTTACT	0.353													6	27					0	0	0.217242	0	0	C	107808830	T	C	107808830	3	2	131	1	0	0	0	0	1	0	0	0	10644	1579	55	4	759	4	NRCAM	7	107808830	Missense_Mutation	SNP	T	TCGA-FG-5964-01A-11D-1705-08	80526159	107808830	51329833	20	5954											
PODXL	5420	broad.mit.edu	37	chr7	131189169	131189171	+	In_Frame_Del	DEL	CTT	CTT	-																															tccccgttgaggctgaccacCttcttctcctgcatctcaga																										TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr7:131189169_131189171delCTT	uc003vqw.4	-	8	1834_1836	c.1576_1578delAAG	c.(1576-1578)aagdel	p.K526del	PODXL_uc003vqx.4_In_Frame_Del_p.K494del	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	526					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GGCTGACCACCTTCTTCTCCTGC	0.557													13	129	---	---	---	---						-	131189171	CTT	-	131189169	7	5	131	1	0	1	0	1	0	0	0	0	12180	680	24	0	102	0	PODXL	7	131189169	In_Frame_Del	DEL	CTT	TCGA-FG-5964-01A-11D-1705-08	23380339	131189169	27949494	21	5955											
RAB2A	5862	broad.mit.edu	37	chr8	61484623	61484623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtgtagagttcggtgctcGaatgataactattgatggga	11	12	14	4	2	0	3	0	2	0	1	2	5	0	4	0	3	2	3	0	3	4	5			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr8:61484623G>A	uc003xud.2	+	2	435	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	RAB2A_uc011lef.2_Missense_Mutation_p.R22Q	NM_002865	NP_002856	P61019	RAB2A_HUMAN	Homo sapiens RAB2A, member RAS oncogene family (RAB2A), transcript variant 1, mRNA.	46					ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|melanosome	GDP binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			TTCGGTGCTCGAATGATAACT	0.323													9	32					0	0	0.38729	0	0	A	61484623	G	A	61484623	3	1	131	1	0	0	0	0	1	0	0	0	12917	1058	37	2	147	2	RAB2A	8	61484623	Missense_Mutation	SNP	G	TCGA-FG-5964-01A-11D-1705-08		61484623	84879399	22	5956											
ZFHX4	79776	broad.mit.edu	37	chr8	77776374	77776377	+	Frame_Shift_Del	DEL	CAAT	CAAT	-																															aagcttgcacaaagagaaaaCaatcaaacaagcaatgagaa																								rs76951673		TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr8:77776374_77776377delCAAT	uc003yau.2	+	10	10811_10814	c.10424_10427delCAAT	c.(10423-10428)acaatcfs	p.T3475fs		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	3426	Ser-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAAGAGAAAACAATCAAACAAGCA	0.456										HNSCC(33;0.089)			22	45	---	---	---	---						-	77776377	CAAT	-	77776374	7	5	131	1	0	1	0	1	0	0	0	0	17632	478	17	0	10462	0	ZFHX4	8	77776374	Frame_Shift_Del	DEL	CAAT	TCGA-FG-5964-01A-11D-1705-08	16291751	77776374	68587648	23	5957											
RBM12B	389677	broad.mit.edu	37	chr8	94745644	94745648	+	Frame_Shift_Del	DEL	TTAAC	TTAAC	-																															gctctctctctacagcaaagTtaacttaacttttcggggcc																										TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr8:94745644_94745648delTTAAC	uc022aye.1	-	0	2991_2995	c.2991_2995delGTTAA	c.(2989-2997)aagttaactfs	p.K997fs	RBM12B_uc003yfz.3_Frame_Shift_Del_p.K997fs	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	997	RRM 4.						RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TACAGCAAAGTTAACTTAACTTTTC	0.332													19	47	---	---	---	---						-	94745648	TTAAC	-	94745644	7	5	131	1	0	1	0	1	0	0	0	0	13114	1725	60	0	14	0	RBM12B	8	94745644	Frame_Shift_Del	DEL	TTAAC	TCGA-FG-5964-01A-11D-1705-08	16969270	94745644	51618378	24	5958											
MELK	9833	broad.mit.edu	37	chr9	36607659	36607661	+	In_Frame_Del	DEL	AAG	AAG	-																															ataatgtaatggctttatacAagaagattatggtgagtatt																								rs35142210	byFrequency	TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr9:36607659_36607661delAAG	uc003zzn.3	+	7	793_795	c.655_657delAAG	c.(655-657)aagdel	p.K220del	MELK_uc022bgq.1_Non-coding_Transcript|MELK_uc011lpm.2_In_Frame_Del_p.K89del|MELK_uc011lpn.2_In_Frame_Del_p.K220del|MELK_uc011lpo.2_In_Frame_Del_p.K26del|MELK_uc010mll.3_In_Frame_Del_p.K188del|MELK_uc011lpp.2_In_Frame_Del_p.K172del|MELK_uc010mlm.3_In_Frame_Del_p.K149del|MELK_uc011lpr.2_In_Frame_Del_p.K149del|MELK_uc011lpq.2_In_Frame_Del_p.K26del|MELK_uc011lps.2_In_Frame_Del_p.K140del	NM_014791	NP_055606	Q14680	MELK_HUMAN	Homo sapiens maternal embryonic leucine zipper kinase (MELK), mRNA.	220	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			GGCTTTATACAAGAAGATTATGG	0.33													7	143	---	---	---	---						-	36607661	AAG	-	36607659	7	5	131	1	0	1	0	1	0	0	0	0	9470	131	5	0	681	0	MELK	9	36607659	In_Frame_Del	DEL	AAG	TCGA-FG-5964-01A-11D-1705-08		36607659	104605772	25	5959											
AKR1C3	8644	broad.mit.edu	37	chr10	5144389	5144389	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atagtgctctgggatctcaaCgagacaaacgatggtaataa	15	9	10	7	2	2	1	1	0	2	1	3	4	2	2	0	2	3	2	0	2	5	3			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr10:5144389C>T	uc001ihr.3	+	5	850	c.667C>T	c.(667-669)Cga>Tga	p.R223*	AKR1C3_uc021pml.1_Nonsense_Mutation_p.R223*|AKR1C3_uc010qap.2_Nonsense_Mutation_p.R200*|AKR1C3_uc001ihu.3_Nonsense_Mutation_p.R223*	NM_003739	NP_003730	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) (AKR1C3), transcript variant 1, mRNA.	223					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	GGGATCTCAACGAGACAAACG	0.383													18	58					0	0	0.520397	0	0	T	5144389	C	T	5144389	4	4	131	1	0	0	0	0	0	1	0	0	471	528	19	1	689	1	AKR1C3	10	5144389	Nonsense_Mutation	SNP	C	TCGA-FG-5964-01A-11D-1705-08		5144389	130390358	26	5960											
KIAA1217	56243	broad.mit.edu	37	chr10	24825812	24825812	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggcgccacagtgccacccaAggagaagaaggtaacgtggc	12	3	15	11	2	0	2	0	0	0	2	0	3	0	2	3	4	2	1	3	4	4	1			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr10:24825812A>T	uc001iru.4	+	16	3927	c.3524A>T	c.(3523-3525)aAg>aTg	p.K1175M	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Missense_Mutation_p.K1139M|KIAA1217_uc010qcz.2_Missense_Mutation_p.K1140M|KIAA1217_uc001irw.3_Missense_Mutation_p.K858M|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Missense_Mutation_p.K858M|KIAA1217_uc001iry.3_Missense_Mutation_p.K858M	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1175					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GTGCCACCCAAGGAGAAGAAG	0.507													6	60					0	0	0.248553	0	0	T	24825812	A	T	24825812	3	4	131	1	0	0	0	0	1	0	0	0	8216	72	3	5	3590	5	KIAA1217	10	24825812	Missense_Mutation	SNP	A	TCGA-FG-5964-01A-11D-1705-08	19681423	24825812	110708935	27	5961											
KIAA1217	56243	broad.mit.edu	37	chr10	24833960	24833960	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcctgtccccatgagtgcCaagaacagacccggaaccct	11	6	9	15	1	0	3	0	1	0	2	1	4	1	4	6	1	4	0	6	1	3	0			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr10:24833960C>T	uc001iru.4	+	19	5665	c.5262C>T	c.(5260-5262)gcC>gcT	p.A1754A	KIAA1217_uc001irs.3_Silent_p.A1075A|KIAA1217_uc001irt.4_Silent_p.A1120A|KIAA1217_uc010qcy.2_Silent_p.A1185A|KIAA1217_uc010qcz.2_Silent_p.A1160A|KIAA1217_uc001irw.3_Silent_p.A904A|KIAA1217_uc001irz.3_Silent_p.A838A|KIAA1217_uc001irx.3_Silent_p.A1437A|KIAA1217_uc001iry.3_Silent_p.A878A	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1754					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCATGAGTGCCAAGAACAGAC	0.572													8	116					0	0	0.27861	0	0	T	24833960	C	T	24833960	2	4	131	1	0	0	0	0	0	0	0	1	8216	581	21	3		3	KIAA1217	10	24833960	Silent	SNP	C	TCGA-FG-5964-01A-11D-1705-08	8148	24833960	110700787	28	5962											
RBM14	10432	broad.mit.edu	37	chr11	66392068	66392068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagctacctaccgggcccagCcgtccgtgtcactgggagct	6	7	12	16	3	1	0	1	0	0	0	2	1	2	1	5	2	5	2	5	2	2	2			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr11:66392068C>T	uc001oit.3	+	1	860	c.721C>T	c.(721-723)Ccg>Tcg	p.P241S	RBM14_uc009yri.3_Intron|RBM14_uc009yrh.3_Intron|RBM14_uc009yrj.3_Intron|RBM14_uc009yrk.3_Intron|RBM14_uc021qmb.1_Intron|RBM14_uc021qmc.1_5'Flank	NM_006328	NP_006319	Q96PK6	RBM14_HUMAN	Homo sapiens RNA binding motif protein 14 (RBM14), transcript variant 1, mRNA.	241	Ala-rich.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	RNA binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CCGGGCCCAGCCGTCCGTGTC	0.652													3	51					0	0	0.115264	0	0	T	66392068	C	T	66392068	3	4	131	1	0	0	0	0	1	0	0	0	13115	739	26	3	727	3	RBM14	11	66392068	Missense_Mutation	SNP	C	TCGA-FG-5964-01A-11D-1705-08		66392068	68614448	29	5963											
TENC1	23371	broad.mit.edu	37	chr12	53457348	53457348	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcttctccttctgcagaTggaccaacccagacgggacc	8	9	8	16	1	3	2	0	0	3	2	4	4	3	4	5	2	2	1	5	2	1	3			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr12:53457348T>C	uc001sbp.3	+	28	4197	c.4062_splice	c.e28-1	p.R1354_splice	TENC1_uc001sbl.3_Splice_Site_p.R1230_splice|TENC1_uc001sbn.3_Splice_Site_p.R1364_splice|TENC1_uc001sbq.3_Splice_Site_p.R752_splice|TENC1_uc001sbr.3_Splice_Site|TENC1_uc009zmr.3_Splice_Site_p.R847_splice	NM_170754	NP_938072	Q63HR2	TENC1_HUMAN	Homo sapiens tensin like C1 domain containing phosphatase (tensin 2) (TENC1), transcript variant 2, mRNA.	1354					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CTTCTGCAGATGGACCAACCC	0.642													3	88					0	0	0.150653	0	0	C	53457348	T	C	53457348	5	2	131	1	0	0	0	0	0	0	1	0	15755	1478	51	3	4282	3	TENC1	12	53457348	Splice_Site	SNP	T	TCGA-FG-5964-01A-11D-1705-08		53457348	80394547	30	5964											
PAN2	9924	broad.mit.edu	37	chr12	56721813	56721813	+	Frame_Shift_Del	DEL	T	T	-																															ggccgcagaagaagaagcgaTttgtctgtctcatgatggtg																										TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr12:56721813delT	uc001skx.3	-	4	994	c.617delA	c.(616-618)aatfs	p.N206fs	PAN2_uc001sky.3_Frame_Shift_Del_p.N206fs|PAN2_uc001skz.3_Frame_Shift_Del_p.N206fs	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.	206					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GAAGAAGCGATTTGTCTGTCT	0.512													8	39	---	---	---	---						-	56721813	T	-	56721813	7	5	131	1	0	1	0	1	0	0	0	0	11414	1493	52	0	3079	0	PAN2	12	56721813	Frame_Shift_Del	DEL	T	TCGA-FG-5964-01A-11D-1705-08	3264465	56721813	77130082	31	5965											
LRP1	4035	broad.mit.edu	37	chr12	57588464	57588464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggatgactgtgaacatggcGaggacgagacccactgcagt	12	6	14	9	2	0	3	0	2	0	1	0	7	0	5	1	3	2	1	1	3	1	0			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr12:57588464G>A	uc001snd.3	+	49	8639	c.8173G>A	c.(8173-8175)Gag>Aag	p.E2725K		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2725	LDL-receptor class A 15.				aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGAACATGGCGAGGACGAGAC	0.597													13	42					0	0	0.435327	0	0	A	57588464	G	A	57588464	3	1	131	1	0	0	0	0	1	0	0	0	8951	1059	37	2	8371	2	LRP1	12	57588464	Missense_Mutation	SNP	G	TCGA-FG-5964-01A-11D-1705-08	866651	57588464	76263431	32	5966											
TMEM19	55266	broad.mit.edu	37	chr12	72094692	72094694	+	In_Frame_Del	DEL	AAC	AAC	-																															cagggaaacccattcttgatAacaacgcagtgaatctgttt																										TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr12:72094692_72094694delAAC	uc001sws.3	+	5	1511_1513	c.928_930delAAC	c.(928-930)aacdel	p.N311del		NM_018279	NP_060749	Q96HH6	TMM19_HUMAN	Homo sapiens transmembrane protein 19 (TMEM19), mRNA.	311						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CATTCTTGATAACAACGCAGTGA	0.463													11	329	---	---	---	---						-	72094694	AAC	-	72094692	7	5	131	1	0	1	0	1	0	0	0	0	16110	362	13	0	950	0	TMEM19	12	72094692	In_Frame_Del	DEL	AAC	TCGA-FG-5964-01A-11D-1705-08	14506228	72094692	61757203	33	5967											
C12orf65	91574	broad.mit.edu	37	chr12	123738357	123738359	+	In_Frame_Del	DEL	AAG	AAG	-																															ctccggtccagatggcaggcAagaaggactaccctgcactg																										TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr12:123738357_123738359delAAG	uc001uen.3	+	1	399_401	c.136_138delAAG	c.(136-138)aagdel	p.K47del	C12orf65_uc001ueo.3_Non-coding_Transcript|C12orf65_uc021rft.1_In_Frame_Del_p.K47del|C12orf65_uc010tan.2_In_Frame_Del_p.K47del	NM_152269	NP_689482	Q9H3J6	CL065_HUMAN	Homo sapiens chromosome 12 open reading frame 65 (C12orf65), transcript variant 1, mRNA.	47						mitochondrion	translation release factor activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000595)|Epithelial(86;0.00199)		GATGGCAGGCAAGAAGGACTACC	0.557													10	51	---	---	---	---						-	123738359	AAG	-	123738357	7	5	131	1	0	1	0	1	0	0	0	0	1708	131	5	0	138	0	C12orf65	12	123738357	In_Frame_Del	DEL	AAG	TCGA-FG-5964-01A-11D-1705-08	51643665	123738357	10113538	34	5968											
UBL3	5412	broad.mit.edu	37	chr13	30341404	30341406	+	In_Frame_Del	DEL	ACA	ACA	-																															gacagtgtttacaggattacAcaacaattactctctccagt																										TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr13:30341404_30341406delACA	uc001usp.3	-	4	1485_1487	c.340_342delTGT	c.(340-342)tgtdel	p.C114del		NM_007106	NP_009037	O95164	UBL3_HUMAN	Homo sapiens ubiquitin-like 3 (UBL3), mRNA.	114						intracellular|plasma membrane				large_intestine(3)|lung(1)	4		Lung SC(185;0.0281)		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)		ACAGGATTACACAACAATTACTC	0.433													12	38	---	---	---	---						-	30341406	ACA	-	30341404	7	5	131	1	0	1	0	1	0	0	0	0	16883	157	6	0	15	0	UBL3	13	30341404	In_Frame_Del	DEL	ACA	TCGA-FG-5964-01A-11D-1705-08		30341404	84828474	35	5969											
POTEG	404785	broad.mit.edu	37	chr14	19553812	19553812	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcgctttcatggagccgagGtaccacgtccgtcgagaaga	10	7	13	11	5	1	2	1	0	0	2	3	5	2	3	3	2	3	2	3	2	2	2			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr14:19553812G>A	uc001vuz.1	+	0	448	c.396G>A	c.(394-396)agG>agA	p.R132R	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	132										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TGGAGCCGAGGTACCACGTCC	0.592													18	389					0	0	0.681144	0	0	A	19553812	G	A	19553812	2	1	131	1	0	0	0	0	0	0	0	1	12266	1252	44	3		3	POTEG	14	19553812	Silent	SNP	G	TCGA-FG-5964-01A-11D-1705-08		19553812	87795728	36	5970											
TINF2	26277	broad.mit.edu	37	chr14	24709491	24709493	+	In_Frame_Del	DEL	TAA	TAA	-																															ggcttcctggccctaggaggTaataatgatagtctcagggg																										TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr14:24709491_24709493delTAA	uc001woa.4	-	6	1447_1449	c.1105_1107delTTA	c.(1105-1107)ttadel	p.L369del	TINF2_uc010alm.3_3'UTR|TINF2_uc001wob.4_3'UTR|TINF2_uc010tof.2_In_Frame_Del_p.L334del|TINF2_uc001woc.4_3'UTR	NM_001099274	NP_001092744	Q9BSI4	TINF2_HUMAN	Homo sapiens TERF1 (TRF1)-interacting nuclear factor 2 (TINF2), transcript variant 1, mRNA.	369					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		CCCTAGGAGGTAATAATGATAGT	0.498									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome				19	81	---	---	---	---						-	24709493	TAA	-	24709491	7	5	131	1	0	1	0	1	0	0	0	0	15920	1635	57	0	260	0	TINF2	14	24709491	In_Frame_Del	DEL	TAA	TCGA-FG-5964-01A-11D-1705-08	5155679	24709491	82640049	37	5971											
KTN1	3895	broad.mit.edu	37	chr14	56079020	56079020	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagtgtacctcgagactttaAattatcagatgctttggcag	11	13	10	7	1	1	2	1	0	0	2	2	4	1	2	1	1	2	3	1	1	4	5			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr14:56079020A>G	uc001xcb.3	+	2	556	c.254A>G	c.(253-255)aAa>aGa	p.K85R	KTN1_uc001xcc.3_Missense_Mutation_p.K85R|KTN1_uc001xcd.3_Missense_Mutation_p.K85R|KTN1_uc001xce.3_Missense_Mutation_p.K85R|KTN1_uc010trb.2_Missense_Mutation_p.K85R|KTN1_uc001xcf.1_Missense_Mutation_p.K85R	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN	Homo sapiens kinectin 1 (kinesin receptor) (KTN1), transcript variant 1, mRNA.	85					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						CGAGACTTTAAATTATCAGAT	0.358			T	RET	papillary thryoid								3	90					0	0	0.150653	0	0	G	56079020	A	G	56079020	3	3	131	1	0	0	0	0	1	0	0	0	8585	14	1	3	256	3	KTN1	14	56079020	Missense_Mutation	SNP	A	TCGA-FG-5964-01A-11D-1705-08	31369529	56079020	51270520	38	5972											
LTBP2	4053	broad.mit.edu	37	chr14	75017767	75017767	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagagctgtgttctcacCtgtccgttcacagtgttcag	6	12	11	12	1	3	1	3	0	1	1	5	1	4	1	3	1	1	4	3	1	0	3			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr14:75017767C>A	uc001xqa.3	-	7	2073	c.1686_splice	c.e7+1	p.Q562_splice		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	562	TB 1.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GTGTTCTCACCTGTCCGTTCA	0.612													3	44					0.115264	0.120275	0.115264	1	0	A	75017767	C	A	75017767	5	1	131	1	0	0	0	0	0	0	1	0	9074	695	24	5	3899	5	LTBP2	14	75017767	Splice_Site	SNP	C	TCGA-FG-5964-01A-11D-1705-08	18938747	75017767	32331773	39	5973											
KLC1	3831	broad.mit.edu	37	chr14	104143843	104143843	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacgttagaagaagctgctAtgaggtctcgtaaacaggtt	14	10	11	6	2	1	3	0	1	1	2	2	3	1	3	0	2	4	5	0	2	7	4			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr14:104143843A>G	uc001yno.3	+	11	1779	c.1471A>G	c.(1471-1473)Atg>Gtg	p.M491V	KLC1_uc010tyd.1_Missense_Mutation_p.M650V|KLC1_uc010tye.1_Missense_Mutation_p.M487V|KLC1_uc001ynm.1_Missense_Mutation_p.M491V|KLC1_uc010tyf.2_Missense_Mutation_p.M491V|KLC1_uc021seh.1_Non-coding_Transcript|KLC1_uc001ynr.1_Missense_Mutation_p.M1V|KLC1_uc010awu.1_Non-coding_Transcript|KLC1_uc001ynq.1_Missense_Mutation_p.M1V|KLC1_uc001ynp.1_Non-coding_Transcript|KLC1_uc001yns.3_Non-coding_Transcript	NM_182923	NP_891553	Q07866	KLC1_HUMAN	Homo sapiens kinesin light chain 1 (KLC1), transcript variant 2, mRNA.	491					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				AGAAGCTGCTATGAGGTCTCG	0.398													21	45					0	0	0.608945	0	0	G	104143843	A	G	104143843	3	3	131	1	0	0	0	0	1	0	0	0	8333	449	16	3	1513	3	KLC1	14	104143843	Missense_Mutation	SNP	A	TCGA-FG-5964-01A-11D-1705-08	29126076	104143843	3205697	40	5974											
MYO5A	4644	broad.mit.edu	37	chr15	52720613	52720613	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accacaatacgtataaataaGtttggaatcaataaagcgga	19	9	7	6	2	1	0	1	0	0	0	1	2	1	2	1	2	2	2	1	2	10	6			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr15:52720613G>C	uc002aby.2	-	2	536	c.292C>G	c.(292-294)Ctt>Gtt	p.L98V	MYO5A_uc002abx.3_Missense_Mutation_p.L98V|MYO5A_uc010uge.1_Intron	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.	98	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GTATAAATAAGTTTGGAATCA	0.408													38	79					0	0	0.834066	0	0	C	52720613	G	C	52720613	3	2	131	1	0	0	0	0	1	0	0	0	10078	1029	36	5	5431	5	MYO5A	15	52720613	Missense_Mutation	SNP	G	TCGA-FG-5964-01A-11D-1705-08		52720613	49810779	41	5975											
CLCN7	1186	broad.mit.edu	37	chr16	1510460	1510460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcccacgagcacgaaggCggcgttcagcgtggcccaca	10	3	14	14	5	1	1	1	0	0	1	1	3	1	1	2	3	3	2	2	3	1	1			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr16:1510460C>T	uc002clv.2	-	5	663	c.553G>A	c.(553-555)Gcc>Acc	p.A185T	CLCN7_uc002clw.2_Missense_Mutation_p.A161T	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	185						integral to membrane|lysosomal membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				AGCACGAAGGCGGCGTTCAGC	0.597													29	54					0	0	0.750413	0	0	T	1510460	C	T	1510460	3	4	131	1	0	0	0	0	1	0	0	0	3468	768	27	1	1944	1	CLCN7	16	1510460	Missense_Mutation	SNP	C	TCGA-FG-5964-01A-11D-1705-08		1510460	88844293	42	5976											
CDH15	1013	broad.mit.edu	37	chr16	89261356	89261356	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagggtgacggctcggtggcGgggacgctgagctccatcct	5	7	18	11	4	0	2	0	2	0	0	3	4	2	3	2	6	1	3	2	6	0	0			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr16:89261356G>A	uc002fmt.3	+	13	2315	c.2238G>A	c.(2236-2238)gcG>gcA	p.A746A		NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	746					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GCTCGGTGGCGGGGACGCTGA	0.632													5	15					0	0	0.307466	0	0	A	89261356	G	A	89261356	2	1	131	1	0	0	0	0	0	0	0	1	3100	1103	39	2		2	CDH15	16	89261356	Silent	SNP	G	TCGA-FG-5964-01A-11D-1705-08	87750896	89261356	1093397	43	5977											
OR1A1	8383	broad.mit.edu	37	chr17	3119138	3119138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggttgacatcttcttctcatCggtaaccatccctaagatgc	9	13	7	12	1	3	2	1	1	3	1	6	2	4	2	2	2	2	2	2	2	2	5			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr17:3119138C>T	uc010vrc.2	+	0	224	c.224C>T	c.(223-225)tCg>tTg	p.S75L		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA.	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TTCTTCTCATCGGTAACCATC	0.483													50	129					0	0	0.870114	0	0	T	3119138	C	T	3119138	3	4	131	1	0	0	0	0	1	0	0	0	10949	893	31	2	226	2	OR1A1	17	3119138	Missense_Mutation	SNP	C	TCGA-FG-5964-01A-11D-1705-08		3119138	78076072	44	5978											
CCR10	2826	broad.mit.edu	37	chr17	40832563	40832563	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcctggacatcggcctTgtagcaaagctccggcagtg	9	7	14	11	2	0	0	0	0	0	0	2	2	1	1	3	4	2	4	3	4	3	2			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr17:40832563T>C	uc002iax.4	-	1	101	c.97A>G	c.(97-99)Aag>Gag	p.K33E	CNTNAP1_uc002iay.3_5'Flank|CNTNAP1_uc010wgs.2_5'Flank	NM_016602	NP_057686	P46092	CCR10_HUMAN	Homo sapiens chemokine (C-C motif) receptor 10 (CCR10), mRNA.	33						integral to plasma membrane				lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		ACATCGGCCTTGTAGCAAAGC	0.637													8	28					0	0	0.27861	0	0	C	40832563	T	C	40832563	3	2	131	1	0	0	0	0	1	0	0	0	2940	1821	63	3	995	3	CCR10	17	40832563	Missense_Mutation	SNP	T	TCGA-FG-5964-01A-11D-1705-08	37713425	40832563	40362647	45	5979											
BCAS3	54828	broad.mit.edu	37	chr17	58967054	58967054	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgccatttgaaatttttcAggctgctatccatgtccagg	9	14	9	9	0	1	1	1	1	0	0	3	1	3	1	3	2	2	2	3	2	2	4			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr17:58967054A>G	uc002iyv.4	+	10	771	c.662_splice	c.e10-2	p.S221_splice	BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.4_Splice_Site_p.S221_splice|BCAS3_uc002iyw.4_Splice_Site_p.S217_splice|BCAS3_uc002iyx.1_Splice_Site_p.G36_splice|BCAS3_uc002iyy.4_Splice_Site	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	221						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GAAATTTTTCAGGCTGCTATC	0.398													3	71					0	0	0.115264	0	0	G	58967054	A	G	58967054	5	3	131	1	0	0	0	0	0	0	1	0	1352	202	7	4	694	4	BCAS3	17	58967054	Splice_Site	SNP	A	TCGA-FG-5964-01A-11D-1705-08	18134491	58967054	22228156	46	5980											
PAF1	54623	broad.mit.edu	37	chr19	39879756	39879758	+	In_Frame_Del	DEL	TCT	TCT	-																															tttctgggcatcctcaaaagTcttctcaatggctgtgatct																										TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr19:39879756_39879758delTCT	uc002old.3	-	6	717_719	c.542_544delAGA	c.(541-546)aagact>act	p.K181del	PAF1_uc010xuv.2_Non-coding_Transcript|PAF1_uc002ole.1_In_Frame_Del_p.K171del|MED29_uc002olf.3_5'Flank|MED29_uc010xux.2_5'Flank	NM_019088	NP_061961	Q8N7H5	PAF1_HUMAN	Homo sapiens Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae) (PAF1), mRNA.	181					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TCCTCAAAAGTCTTCTCAATGGC	0.483													30	105	---	---	---	---						-	39879758	TCT	-	39879756	7	5	131	1	0	1	0	1	0	0	0	0	11383	1667	58	0	1083	0	PAF1	19	39879756	In_Frame_Del	DEL	TCT	TCGA-FG-5964-01A-11D-1705-08		39879756	19249227	47	5981											
CIC	23152	broad.mit.edu	37	chr19	42797980	42797981	+	Frame_Shift_Del	DEL	TG	TG	-																															ctgaagaagacctttgactcTgtggacaagtgagcatgggc																										TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr19:42797980_42797981delTG	uc002otf.1	+	15	4072_4073	c.4032_4033delTG	c.(4030-4035)tctgtgfs	p.S1344fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCTTTGACTCTGTGGACAAGTG	0.693			"Mis, F, S"		oligodendroglioma								32	36	---	---	---	---						-	42797981	TG	-	42797980	7	5	131	1	0	1	0	1	0	0	0	0	3424	1567	55	0	4094	0	CIC	19	42797980	Frame_Shift_Del	DEL	TG	TCGA-FG-5964-01A-11D-1705-08	2918224	42797980	16331003	48	5982											
NCAPH2	29781	broad.mit.edu	37	chr22	50956005	50956005	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggatgtgcttctctctcaGgcgggccaagcagctctctt	5	11	12	13	2	3	0	1	0	3	0	6	1	3	1	1	3	3	3	1	3	1	2			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr22:50956005G>A	uc003blx.4	+	4	389	c.267_splice	c.e4-1	p.R89_splice	NCAPH2_uc003blq.4_Splice_Site_p.R89_splice|NCAPH2_uc003blv.3_Splice_Site_p.R89_splice|NCAPH2_uc003blr.4_Splice_Site_p.R89_splice	NM_001185011	NP_001171940	Q6IBW4	CNDH2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit H2 (NCAPH2), transcript variant 3, mRNA.	89					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		TTCTCTCTCAGGCGGGCCAAG	0.632													30	63					0	0	0.717897	0	0	A	50956005	G	A	50956005	5	1	131	1	0	0	0	0	0	0	1	0	10210	1014	35	3	280	3	NCAPH2	22	50956005	Splice_Site	SNP	G	TCGA-FG-5964-01A-11D-1705-08		50956005	348561	49	5983											
SPANXE	171489	broad.mit.edu	37	chrX	140785767	140785767	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctgtagcgaaccactagtAtggtcgaggactcagatgtt	10	11	11	9	2	1	1	1	0	0	1	3	4	2	2	2	2	2	3	2	2	4	4			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chrX:140785767A>G	uc004fbq.3	-	1	242	c.149T>C	c.(148-150)aTa>aCa	p.I50T		NM_145665	NP_663698	Q8TAD1	SPNXE_HUMAN	Homo sapiens SPANX family, member E (SPANXE), mRNA.	50						cytoplasm|nucleus						Acute lymphoblastic leukemia(192;7.65e-05)					AACCACTAGTATGGTCGAGGA	0.498													78	46					0	0	0.870114	0	0	G	140785767	A	G	140785767	3	3	131	1	0	0	0	0	1	0	0	0	14989	449	16	3	148	3	SPANXE	23	140785767	Missense_Mutation	SNP	A	TCGA-FG-5964-01A-11D-1705-08		140785767	14484793	50	5984											
CAMTA1	23261	broad.mit.edu	37	chr1	7723708	7723708	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccatcagcagcgggctcaaCagcgacccggacatggtgga	10	5	13	13	3	2	0	2	0	0	0	3	3	3	2	2	4	4	2	2	4	1	0			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:7723708C>G	uc001aoi.3	+	8	1308	c.1101C>G	c.(1099-1101)aaC>aaG	p.N367K		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCGGGCTCAACAGCGACCCGG	0.647			T	WWTR1	epitheliod hemangioendothelioma								34	76					0	0	0.003755	0	0	G	7723708	C	G	7723708	3	3	132	1	0	0	0	0	1	0	0	0	2613	477	17	5	1135	5	CAMTA1	1	7723708	Missense_Mutation	SNP	C	TCGA-FG-5965-01B-11D-1893-08		7723708	241526913	1	5985											
EYA3	2140	broad.mit.edu	37	chr1	28339787	28339787	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtactgattctgaccaagaaTagtataggtgggataatcct	13	12	10	6	0	1	3	0	2	1	1	2	4	2	4	2	2	1	2	2	2	7	6			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:28339787T>C	uc001bpi.2	-	8	786	c.604A>G	c.(604-606)Att>Gtt	p.I202V	EYA3_uc010ofs.2_Missense_Mutation_p.I149V|EYA3_uc010oft.2_Missense_Mutation_p.I156V|EYA3_uc001bpj.3_Missense_Mutation_p.I156V|EYA3_uc001bpk.2_Non-coding_Transcript|EYA3_uc010ofu.2_Non-coding_Transcript	NM_001990	NP_001981	Q99504	EYA3_HUMAN	Homo sapiens eyes absent homolog 3 (Drosophila) (EYA3), mRNA.	202					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		TGACCAAGAATAGTATAGGTG	0.453													17	113					0	0	0.007413	0	0	C	28339787	T	C	28339787	3	2	132	1	0	0	0	0	1	0	0	0	5330	1406	49	3	1157	3	EYA3	1	28339787	Missense_Mutation	SNP	T	TCGA-FG-5965-01B-11D-1893-08	20616079	28339787	220910834	2	5986											
SHC1	6464	broad.mit.edu	37	chr1	154942867	154942867	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccccaggcagaggaggcaGgatgggccccagggatgaag	10	3	18	10	0	0	2	0	1	0	1	1	5	1	5	4	6	0	2	4	6	1	0			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:154942867G>C	uc001ffv.3	-	0	357	c.136C>G	c.(136-138)Ctg>Gtg	p.L46V	SHC1_uc001ffw.3_Missense_Mutation_p.L46V|SHC1_uc001ffx.3_Intron|SHC1_uc001ffy.3_Intron|SHC1_uc001ffz.1_5'Flank	NM_183001	NP_001189788	P29353	SHC1_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 1 (SHC1), transcript variant 1, mRNA.	46					Ras protein signal transduction|activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|regulation of epidermal growth factor receptor activity|regulation of growth	Shc-EGFR complex|cytosol|mitochondrial matrix	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGAGGAGGCAGGATGGGCCCC	0.662													19	33					0	0	0.008871	0	0	C	154942867	G	C	154942867	3	2	132	1	0	0	0	0	1	0	0	0	14270	991	35	5	1666	5	SHC1	1	154942867	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08	126603080	154942867	94307754	3	5987											
APCS	325	broad.mit.edu	37	chr1	159557756	159557756	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcctcaccagcctcctGgaagcctttgctcacacagg	7	10	8	16	0	3	0	2	0	1	0	5	1	5	1	5	2	3	1	5	2	1	1			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:159557756G>A	uc001ftv.3	+	0	141	c.45G>A	c.(43-45)ctG>ctA	p.L15L		NM_001639	NP_001630	P02743	SAMP_HUMAN	Homo sapiens amyloid P component, serum (APCS), mRNA.	15					acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					CCAGCCTCCTGGAAGCCTTTG	0.473													16	97					0	0	0.00499	0	0	A	159557756	G	A	159557756	2	1	132	1	0	0	0	0	0	0	0	1	767	1335	47	3		3	APCS	1	159557756	Silent	SNP	G	TCGA-FG-5965-01B-11D-1893-08	4614889	159557756	89692865	4	5988											
OBSCN	84033	broad.mit.edu	37	chr1	228504445	228504445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggagcctctgaaaaacGcggcggtccgggccggcgca	7	5	15	14	6	1	1	0	1	1	0	3	2	3	2	4	5	2	1	4	5	2	0			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:228504445G>A	uc009xez.1	+	50	13365	c.13321G>A	c.(13321-13323)Gcg>Acg	p.A4441T	OBSCN_uc001hsn.3_Missense_Mutation_p.A4441T	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4441	Ig-like 46.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCTGAAAAACGCGGCGGTCCG	0.672													5	28					0	0	0.001984	0	0	A	228504445	G	A	228504445	3	1	132	1	0	0	0	0	1	0	0	0	10812	1087	38	1	13519	1	OBSCN	1	228504445	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08	68946689	228504445	20746176	5	5989											
PDIA6	10130	broad.mit.edu	37	chr2	10928839	10928839	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacccccacattttcttttTgtatttgtctgccaacttca	7	19	3	12	0	3	0	1	0	2	0	3	0	3	0	3	0	3	1	3	0	3	8			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:10928839T>C	uc002rau.3	-	9	1120	c.982A>G	c.(982-984)Aaa>Gaa	p.K328E	PDIA6_uc010yjg.2_Missense_Mutation_p.K325E|PDIA6_uc002rav.3_Missense_Mutation_p.K380E|PDIA6_uc010yjh.2_Missense_Mutation_p.K333E|PDIA6_uc002raw.3_Missense_Mutation_p.K376E	NM_005742	NP_005733	Q15084	PDIA6_HUMAN	Homo sapiens protein disulfide isomerase family A, member 6 (PDIA6), mRNA.	328					cell redox homeostasis|glycerol ether metabolic process|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		ATTTTCTTTTTGTATTTGTCT	0.383													82	375					0	0	0.01441	0	0	C	10928839	T	C	10928839	3	2	132	1	0	0	0	0	1	0	0	0	11672	1821	63	3	356	3	PDIA6	2	10928839	Missense_Mutation	SNP	T	TCGA-FG-5965-01B-11D-1893-08		10928839	232270534	6	5990											
EPCAM	4072	broad.mit.edu	37	chr2	47613720	47613720	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtttcagataaaggagAtgggtgagatgcatagggaa	13	10	14	4	0	1	3	1	1	0	3	2	6	2	4	1	3	1	2	1	3	4	3			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:47613720A>G	uc002rvx.3	+	8	1271	c.913A>G	c.(913-915)Atg>Gtg	p.M305V		NM_002354	NP_002345	P16422	EPCAM_HUMAN	Homo sapiens epithelial cell adhesion molecule (EPCAM), mRNA.	305					positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						GATAAAGGAGATGGGTGAGAT	0.279													17	90					0	0	0.00499	0	0	G	47613720	A	G	47613720	3	3	132	1	0	0	0	0	1	0	0	0	5162	333	12	3	947	3	EPCAM	2	47613720	Missense_Mutation	SNP	A	TCGA-FG-5965-01B-11D-1893-08	36684881	47613720	195585653	7	5991											
THSD7B	80731	broad.mit.edu	37	chr2	138425373	138425373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaaaatttgggtttatggcGtttcaggtggcgcttttctc	7	17	11	6	2	2	0	1	0	1	0	3	0	2	0	0	4	0	3	0	4	4	7			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:138425373G>A	uc002tva.1	+	25	4591	c.4591G>A	c.(4591-4593)Gtt>Att	p.V1531I		NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGTTTATGGCGTTTCAGGTGG	0.343													6	29					0	0	0.00308	0	0	A	138425373	G	A	138425373	3	1	132	1	0	0	0	0	1	0	0	0	15877	1145	40	1	4695	1	THSD7B	2	138425373	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08	90811653	138425373	104774000	8	5992											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								23	62					0	0	0.00333	0	0	T	209113112	C	T	209113112	3	4	132	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-5965-01B-11D-1893-08	70687739	209113112	34086261	9	5993											
CPS1	1373	broad.mit.edu	37	chr2	211525381	211525381	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgactatgttgcaattaaggTaacattttcaaaaatttatt	15	17	5	4	0	1	1	1	1	0	0	1	1	1	1	0	1	2	3	0	1	7	9	rs113036168		TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:211525381T>A	uc010fur.3	+	33	4027	c.3945_splice	c.e33+2	p.K1315_splice	CPS1_uc002vee.4_Splice_Site_p.K1309_splice|CPS1_uc010fus.3_Splice_Site_p.K858_splice	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1309					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GCAATTAAGGTAACATTTTCA	0.318													38	56					0	0	0.004289	0	0	A	211525381	T	A	211525381	5	1	132	1	0	0	0	0	0	0	1	0	3823	1652	57	5	4077	5	CPS1	2	211525381	Splice_Site	SNP	T	TCGA-FG-5965-01B-11D-1893-08	2412269	211525381	31673992	10	5994											
CACNA2D2	9254	broad.mit.edu	37	chr3	50417431	50417431	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaccatgtctttgggtgaCgaggccccctggatatacct	8	11	11	11	1	1	2	0	2	1	0	1	4	1	3	4	3	1	0	4	3	2	3			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr3:50417431C>T	uc003daq.3	-	8	899	c.861G>A	c.(859-861)tcG>tcA	p.S287S	CACNA2D2_uc003dap.3_Silent_p.S287S	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	287					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	CTTTGGGTGACGAGGCCCCCT	0.567													31	42					0	0	0.013726	0	0	T	50417431	C	T	50417431	2	4	132	1	0	0	0	0	0	0	0	1	2549	523	19	1		1	CACNA2D2	3	50417431	Silent	SNP	C	TCGA-FG-5965-01B-11D-1893-08		50417431	147604999	11	5995											
TRH	7200	broad.mit.edu	37	chr3	129695936	129695936	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtgggccccagggagcCtatggtcaagcgggccttct	5	8	14	14	1	2	0	1	0	1	0	2	1	2	1	5	4	2	0	5	4	2	2			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr3:129695936C>T	uc003enc.3	+	2	1167	c.606C>T	c.(604-606)gcC>gcT	p.A202A		NM_007117	NP_009048	P20396	TRH_HUMAN	Homo sapiens thyrotropin-releasing hormone (TRH), mRNA.	202					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						CCCAGGGAGCCTATGGTCAAG	0.652													11	46					0	0	0.010729	0	0	T	129695936	C	T	129695936	2	4	132	1	0	0	0	0	0	0	0	1	16475	668	24	3		3	TRH	3	129695936	Silent	SNP	C	TCGA-FG-5965-01B-11D-1893-08	79278505	129695936	68326494	12	5996											
PPP1R10	5514	broad.mit.edu	37	chr6	30576891	30576891	+	Frame_Shift_Del	DEL	T	T	-																															tgaacgggtctgcaggagaaTgttcaagtaagtgcatcgac																										TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:30576891delT	uc003nqn.1	-	3	709	c.157delA	c.(157-159)attfs	p.I53fs	PPP1R10_uc010jsc.1_5'UTR	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.	53	Interaction with TOX4 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|RNA binding|protein phosphatase inhibitor activity|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TGCAGGAGAATGTTCAAGTAA	0.468													41	85	---	---	---	---						-	30576891	T	-	30576891	7	5	132	1	0	1	0	1	0	0	0	0	12352	1464	51	0	2733	0	PPP1R10	6	30576891	Frame_Shift_Del	DEL	T	TCGA-FG-5965-01B-11D-1893-08		30576891	140538176	13	5997											
MTO1	25821	broad.mit.edu	37	chr6	74183326	74183326	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctaaacaagcatataccGgacaatccatccataccatt	16	10	3	12	1	1	0	0	0	1	0	3	1	3	1	4	1	4	1	4	1	7	6			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:74183326G>A	uc010kav.3	+	3	898	c.774G>A	c.(772-774)ccG>ccA	p.P258P	MTO1_uc003pgy.4_Silent_p.P258P|MTO1_uc003pgz.4_Silent_p.P258P|MTO1_uc003pha.4_Intron|MTO1_uc003phb.4_Silent_p.P184P	NM_001123226	NP_001116698	Q9Y2Z2	MTO1_HUMAN	Homo sapiens mitochondrial translation optimization 1 homolog (S. cerevisiae) (MTO1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	258					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						AGCATATACCGGACAATCCAT	0.423													27	45					0	0	0.00632	0	0	A	74183326	G	A	74183326	2	1	132	1	0	0	0	0	0	0	0	1	9953	1103	39	2		2	MTO1	6	74183326	Silent	SNP	G	TCGA-FG-5965-01B-11D-1893-08	43606435	74183326	96931741	14	5998											
MYO6	4646	broad.mit.edu	37	chr6	76602319	76602319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcagttctggagcaggagCgcagggaccgggagctggcc	9	4	18	10	2	1	0	0	0	1	0	1	4	1	4	2	5	4	5	2	5	1	1	rs143152727		TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:76602319C>T	uc003pih.1	+	27	3298	c.3019C>T	c.(3019-3021)Cgc>Tgc	p.R1007C	MYO6_uc003pig.1_Missense_Mutation_p.R1007C|MYO6_uc003pii.1_Missense_Mutation_p.R1007C|MYO6_uc003pij.1_5'Flank	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	Homo sapiens myosin VI (MYO6), mRNA.	1007	Glu-rich.				DNA damage response, signal transduction by p53 class mediator|actin filament-based movement|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	DNA-directed RNA polymerase II, holoenzyme|Golgi apparatus|cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|filamentous actin|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	ADP binding|ATP binding|actin filament binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GGAGCAGGAGCGCAGGGACCG	0.627													6	130					0	0	0.001168	0	0	T	76602319	C	T	76602319	3	4	132	1	0	0	0	0	1	0	0	0	10081	768	27	1	3125	1	MYO6	6	76602319	Missense_Mutation	SNP	C	TCGA-FG-5965-01B-11D-1893-08	2418993	76602319	94512748	15	5999											
BVES	11149	broad.mit.edu	37	chr6	105573323	105573323	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggttttatcctctgcagcaTaagtttggccctttttcaag	8	16	8	9	0	2	0	1	0	1	0	3	0	3	0	2	2	2	4	2	2	3	6			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:105573323T>C	uc003pqw.3	-	3	639	c.482A>G	c.(481-483)tAt>tGt	p.Y161C	BVES_uc003pqx.3_Missense_Mutation_p.Y161C|BVES_uc003pqy.3_Missense_Mutation_p.Y161C	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	Homo sapiens blood vessel epicardial substance (BVES), transcript variant B, mRNA.	161					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of Rac GTPase activity|regulation of cell shape|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				CTCTGCAGCATAAGTTTGGCC	0.413													45	211					0	0	0.01441	0	0	C	105573323	T	C	105573323	3	2	132	1	0	0	0	0	1	0	0	0	1575	1406	49	3	620	3	BVES	6	105573323	Missense_Mutation	SNP	T	TCGA-FG-5965-01B-11D-1893-08	28971004	105573323	65541744	16	6000											
FUCA2	2519	broad.mit.edu	37	chr6	143823598	143823598	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcccatttatgtggcaaaAgatgtcctgggttataacga	11	14	9	7	1	0	1	0	0	0	1	2	2	2	1	2	2	1	2	2	2	5	5			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:143823598A>G	uc003qjm.3	-	3	1106	c.857T>C	c.(856-858)cTt>cCt	p.L286P	FUCA2_uc003qjn.3_Missense_Mutation_p.L40P	NM_032020	NP_114409	Q9BTY2	FUCO2_HUMAN	Homo sapiens fucosidase, alpha-L- 2, plasma (FUCA2), mRNA.	286					fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		ATGTGGCAAAAGATGTCCTGG	0.458													3	172					0	0	0.009096	0	0	G	143823598	A	G	143823598	3	3	132	1	0	0	0	0	1	0	0	0	6095	72	3	4	562	4	FUCA2	6	143823598	Missense_Mutation	SNP	A	TCGA-FG-5965-01B-11D-1893-08	38250275	143823598	27291469	17	6001											
QKI	9444	broad.mit.edu	37	chr6	163984476	163984476	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttgccttttctcttgcagCaacagcccaggctgctccaa	7	11	7	16	0	1	0	0	0	1	0	3	0	2	0	4	1	6	4	4	1	2	4			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:163984476C>G	uc003qui.3	+	5	1210	c.659C>G	c.(658-660)gCa>gGa	p.A220G	QKI_uc003quj.3_Splice_Site_p.P212_splice|QKI_uc003quh.3_Splice_Site_p.P212_splice|QKI_uc003que.3_Missense_Mutation_p.A220G|QKI_uc003quf.3_Missense_Mutation_p.A220G|QKI_uc003qug.3_Missense_Mutation_p.A220G	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA.	220					RNA splicing|mRNA processing|mRNA transport|regulation of translation	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TCTCTTGCAGCAACAGCCCAG	0.507													8	46					0	0	0.00308	0	0	G	163984476	C	G	163984476	3	3	132	1	0	0	0	0	1	0	0	0	12873	710	25	5	681	5	QKI	6	163984476	Missense_Mutation	SNP	C	TCGA-FG-5965-01B-11D-1893-08	20160878	163984476	7130591	18	6002											
RP1L1	94137	broad.mit.edu	37	chr8	10465064	10465064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccccttctgcctctggggCctctacaccttctaactctg	4	13	6	18	0	5	0	0	0	5	0	6	0	6	0	5	2	3	0	5	2	2	4			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr8:10465064C>T	uc003wtc.3	-	3	6773	c.6544G>A	c.(6544-6546)Gcc>Acc	p.A2182T		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	2182					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCCTCTGGGGCCTCTACACCT	0.612													70	364					0	0	0.01441	0	0	T	10465064	C	T	10465064	3	4	132	1	0	0	0	0	1	0	0	0	13533	739	26	3	662	3	RP1L1	8	10465064	Missense_Mutation	SNP	C	TCGA-FG-5965-01B-11D-1893-08		10465064	135898958	19	6003											
LPL	4023	broad.mit.edu	37	chr8	19811731	19811731	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttacacacattcaccagAgggtcccctggtcgaagcat	10	9	9	13	1	2	1	1	0	1	1	4	2	3	1	3	2	2	1	3	2	2	2			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr8:19811731A>C	uc003wzk.4	+	4	1012	c.642A>C	c.(640-642)agA>agC	p.R214S		NM_000237	NP_000228	P06858	LIPL_HUMAN	Homo sapiens lipoprotein lipase (LPL), mRNA.	214					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	CATTCACCAGAGGGTCCCCTG	0.488													26	140					0	0	0.005443	0	0	C	19811731	A	C	19811731	3	2	132	1	0	0	0	0	1	0	0	0	8921	301	11	5	660	5	LPL	8	19811731	Missense_Mutation	SNP	A	TCGA-FG-5965-01B-11D-1893-08	9346667	19811731	126552291	20	6004											
VPS13B	157680	broad.mit.edu	37	chr8	100454689	100454689	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcctgccttccccaagtacaAttgtatctggtgacattcct	8	13	7	13	0	1	1	0	1	1	0	3	1	3	1	5	1	2	2	5	1	4	5			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr8:100454689A>G	uc003yiv.3	+	22	3382	c.3271A>G	c.(3271-3273)Att>Gtt	p.I1091V	VPS13B_uc003yiw.3_Missense_Mutation_p.I1091V|VPS13B_uc003yiu.1_Missense_Mutation_p.I1091V|VPS13B_uc003yix.1_Missense_Mutation_p.I561V	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1091					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCCAAGTACAATTGTATCTGG	0.388													9	81					0	0	0.010729	0	0	G	100454689	A	G	100454689	3	3	132	1	0	0	0	0	1	0	0	0	17187	101	4	3	3480	3	VPS13B	8	100454689	Missense_Mutation	SNP	A	TCGA-FG-5965-01B-11D-1893-08	80642958	100454689	45909333	21	6005											
OSTF1	26578	broad.mit.edu	37	chr9	77752522	77752522	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagatatcgtccagttgctTctggcaaaaggtaaagtttg	11	12	11	7	1	1	1	0	0	1	1	3	1	2	1	1	2	1	6	1	2	5	5			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr9:77752522T>G	uc004ajx.4	+	7	594	c.486T>G	c.(484-486)ctT>ctG	p.L162L	OSTF1_uc004ajv.4_Silent_p.L159L	NM_012383	NP_036515	Q92882	OSTF1_HUMAN	Homo sapiens osteoclast stimulating factor 1 (OSTF1), mRNA.	159					ossification|signal transduction	cytoplasm	identical protein binding			endometrium(1)|skin(1)	2						TCCAGTTGCTTCTGGCAAAAG	0.388													27	37					0	0	0.005443	0	0	G	77752522	T	G	77752522	2	3	132	1	0	0	0	0	0	0	0	1	11297	1770	62	5		5	OSTF1	9	77752522	Silent	SNP	T	TCGA-FG-5965-01B-11D-1893-08		77752522	63460909	22	6006											
ASTN2	23245	broad.mit.edu	37	chr9	119770407	119770407	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgctcacaggcatctgTcgtcctttgtccacagaggt	7	11	11	12	1	2	1	1	0	1	1	5	2	4	1	2	2	2	3	2	2	0	1			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr9:119770407T>C	uc004bjt.2	-	5	1503	c.1402A>G	c.(1402-1404)Aca>Gca	p.T468A	ASTN2_uc022bml.1_Missense_Mutation_p.T168A|ASTN2_uc022bmm.1_Missense_Mutation_p.T168A	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	519						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CAGGCATCTGTCGTCCTTTGT	0.577													3	99					0	0	0.004672	0	0	C	119770407	T	C	119770407	3	2	132	1	0	0	0	0	1	0	0	0	1065	1667	58	3	2764	3	ASTN2	9	119770407	Missense_Mutation	SNP	T	TCGA-FG-5965-01B-11D-1893-08	42017885	119770407	21443024	23	6007											
WDR11	55717	broad.mit.edu	37	chr10	122664218	122664218	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataaccagcattattactgtGattcactgaaagcctgttta	13	14	6	8	0	1	2	1	2	0	0	1	2	1	2	2	0	4	2	2	0	5	6			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr10:122664218G>C	uc021pzt.1	+	24	3334	c.3088G>C	c.(3088-3090)Gat>Cat	p.D1030H	WDR11_uc010qte.2_Missense_Mutation_p.D632H|WDR11_uc001lfd.1_Missense_Mutation_p.D548H|AX747838_uc001lfe.1_5'Flank	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	1030						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TTATTACTGTGATTCACTGAA	0.418													10	109					0	0	0.008291	0	0	C	122664218	G	C	122664218	3	2	132	1	0	0	0	0	1	0	0	0	17270	1290	45	5	3186	5	WDR11	10	122664218	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08		122664218	12870529	24	6008											
OR51G1	79324	broad.mit.edu	37	chr11	4944710	4944710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agatgatggggttcataaggGgtggtaccagcagatacaca	13	8	14	6	0	1	3	1	1	0	2	1	3	1	3	1	5	3	3	1	5	3	4			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:4944710G>A	uc010qyr.2	-	0	860	c.860C>T	c.(859-861)cCc>cTc	p.P287L		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P287T(1)		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)		GTTCATAAGGGGTGGTACCAG	0.453													25	75					0	0	0.00632	0	0	A	4944710	G	A	4944710	3	1	132	1	0	0	0	0	1	0	0	0	11098	1232	43	3	107	3	OR51G1	11	4944710	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08		4944710	130061806	25	6009											
P2RX3	5024	broad.mit.edu	37	chr11	57135524	57135524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaatggcagtgagtaccGcaccctcctgaaggcttttg	10	9	12	10	1	0	2	0	2	0	0	1	3	1	3	3	3	1	4	3	3	4	3			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:57135524G>A	uc001nju.3	+	8	1068	c.884G>A	c.(883-885)cGc>cAc	p.R295H		NM_002559	NP_002550	P56373	P2RX3_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 3 (P2RX3), mRNA.	295					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	p.R295C(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						AGTGAGTACCGCACCCTCCTG	0.577													5	99					0	0	0.001168	0	0	A	57135524	G	A	57135524	3	1	132	1	0	0	0	0	1	0	0	0	11341	1087	38	1	918	1	P2RX3	11	57135524	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08	52190814	57135524	77870992	26	6010											
MS4A1	931	broad.mit.edu	37	chr11	60230557	60230557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggatctatgcacccatctGtgtgactgtgtggtaccctc	7	12	11	11	0	2	1	0	1	2	0	3	2	2	2	2	2	2	2	2	2	2	2			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:60230557G>A	uc009yna.3	+	2	569	c.242G>A	c.(241-243)tGt>tAt	p.C81Y	MS4A1_uc009ymy.1_Missense_Mutation_p.C81Y|MS4A1_uc009ymz.3_Missense_Mutation_p.C81Y|MS4A1_uc010rlc.2_Intron|MS4A1_uc001npp.3_Missense_Mutation_p.C81Y|MS4A1_uc001npq.3_Missense_Mutation_p.C81Y	NM_152866	NP_690605	P11836	CD20_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 1 (MS4A1), transcript variant 1, mRNA.	81					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	GCACCCATCTGTGTGACTGTG	0.502													21	158					0	0	0.005443	0	0	A	60230557	G	A	60230557	3	1	132	1	0	0	0	0	1	0	0	0	9854	1377	48	3	248	3	MS4A1	11	60230557	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08	3095033	60230557	74775959	27	6011											
ANO2	57101	broad.mit.edu	37	chr12	5687543	5687543	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcacgtaccgatatctttgGttcttacagcatccggccgt	7	12	10	12	4	2	0	0	0	2	0	3	1	3	0	3	3	3	4	3	3	3	5			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:5687543G>T	uc001qnm.2	-	21	2447	c.2375C>A	c.(2374-2376)aCc>aAc	p.T792N		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	797						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GATATCTTTGGTTCTTACAGC	0.552													18	90					1.87028e-06	9.63715e-06	0.012319	1	0	T	5687543	G	T	5687543	3	4	132	1	0	0	0	0	1	0	0	0	697	1261	44	5	641	5	ANO2	12	5687543	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08		5687543	128164352	28	6012											
LTBR	4055	broad.mit.edu	37	chr12	6494301	6494301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatctgccagctgtgccgcCcctgtgacccaggtgagtgg	5	8	13	15	1	1	2	0	2	1	0	1	2	1	2	6	2	3	1	6	2	0	0			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:6494301C>T	uc001qny.1	+	2	475	c.307C>T	c.(307-309)Ccc>Tcc	p.P103S	LTBR_uc010sfc.1_Missense_Mutation_p.P84S|LTBR_uc001qnz.1_Missense_Mutation_p.P98S	NM_002342	NP_002333	P36941	TNR3_HUMAN	Homo sapiens lymphotoxin beta receptor (TNFR superfamily, member 3) (LTBR), mRNA.	103					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						GCTGTGCCGCCCCTGTGACCC	0.637													31	257					0	0	0.004289	0	0	T	6494301	C	T	6494301	3	4	132	1	0	0	0	0	1	0	0	0	9077	623	22	3	317	3	LTBR	12	6494301	Missense_Mutation	SNP	C	TCGA-FG-5965-01B-11D-1893-08	806758	6494301	127357594	29	6013											
FGD4	121512	broad.mit.edu	37	chr12	32791723	32791723	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgctgtacatgtatggtgcCccccaggtatctaaaccaca	10	10	9	12	0	1	0	0	0	1	0	1	0	1	0	4	2	4	4	4	2	5	4			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:32791723C>G	uc010ske.2	+	15	2457	c.2373C>G	c.(2371-2373)gcC>gcG	p.A791A	FGD4_uc001rlc.3_Silent_p.A764A|FGD4_uc001rky.3_Silent_p.A431A|FGD4_uc001rkz.3_Silent_p.A679A|FGD4_uc001rla.3_Silent_p.A335A|FGD4_uc001rlb.1_Non-coding_Transcript	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 4 (FGD4), mRNA.	679					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|filopodium|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TGTATGGTGCCCCCCAGGTAT	0.502													16	67					0	0	0.00499	0	0	G	32791723	C	G	32791723	2	3	132	1	0	0	0	0	0	0	0	1	5835	610	22	5		5	FGD4	12	32791723	Silent	SNP	C	TCGA-FG-5965-01B-11D-1893-08	26297422	32791723	101060172	30	6014											
SMARCC2	6601	broad.mit.edu	37	chr12	56565546	56565546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagtgctcataacagggttgCccgactgactgaaggggatg	10	8	14	9	1	1	2	1	2	0	0	1	4	1	3	1	3	3	2	1	3	2	2			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:56565546C>T	uc001skb.3	-	19	2115	c.2009G>A	c.(2008-2010)gGc>gAc	p.G670D	SMARCC2_uc001skd.3_Missense_Mutation_p.G701D|SMARCC2_uc001ska.3_Missense_Mutation_p.G701D|SMARCC2_uc001skc.3_Missense_Mutation_p.G700D|SMARCC2_uc010sqf.2_Missense_Mutation_p.G590D	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	670					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AACAGGGTTGCCCGACTGACT	0.587													4	133					0	0	0.009096	0	0	T	56565546	C	T	56565546	3	4	132	1	0	0	0	0	1	0	0	0	14776	739	26	3	1671	3	SMARCC2	12	56565546	Missense_Mutation	SNP	C	TCGA-FG-5965-01B-11D-1893-08	23773823	56565546	77286349	31	6015											
PIBF1	10464	broad.mit.edu	37	chr13	73505357	73505357	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacaaaactcgctgattttAaaagatctggaacatcgaaa	19	9	6	7	2	1	2	0	1	1	1	3	4	1	3	0	1	3	1	0	1	7	2			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr13:73505357A>G	uc001vjc.3	+	13	2090	c.1785A>G	c.(1783-1785)ttA>ttG	p.L595L	PIBF1_uc001vjb.3_Silent_p.L595L|PIBF1_uc010aep.3_Silent_p.L54L	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA.	595						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CGCTGATTTTAAAAGATCTGG	0.318													13	56					0	0	0.003163	0	0	G	73505357	A	G	73505357	2	3	132	1	0	0	0	0	0	0	0	1	11879	359	13	3		3	PIBF1	13	73505357	Silent	SNP	A	TCGA-FG-5965-01B-11D-1893-08		73505357	41664521	32	6016											
OTX2	5015	broad.mit.edu	37	chr14	57270920	57270920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctacctgcaccctcgactCgggcaagttgattttcagtg	7	11	9	14	2	1	1	1	1	0	0	3	2	1	1	3	1	2	3	3	1	2	4			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr14:57270920C>T	uc001xcq.3	-	3	533	c.259G>A	c.(259-261)Gag>Aag	p.E87K	OTX2_uc001xcp.3_Missense_Mutation_p.E79K|OTX2_uc021rtm.1_Intron|OTX2_uc010aou.3_Missense_Mutation_p.E79K	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	79					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|eukaryotic initiation factor 4E binding|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					ACCCTCGACTCGGGCAAGTTG	0.572													7	46					0	0	0.001984	0	0	T	57270920	C	T	57270920	3	4	132	1	0	0	0	0	1	0	0	0	11321	893	31	2	642	2	OTX2	14	57270920	Missense_Mutation	SNP	C	TCGA-FG-5965-01B-11D-1893-08		57270920	50078620	33	6017											
ADAM20	8748	broad.mit.edu	37	chr14	70991445	70991445	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcagcagaagagtgaccctGatgtgcaccaggggctcacc	11	5	13	12	0	1	4	1	2	0	2	1	4	1	4	3	2	3	4	3	2	1	0			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr14:70991445G>A	uc021rvs.1	-	0	180	c.180C>T	c.(178-180)atC>atT	p.I60I	ADAM20_uc001xme.3_Silent_p.I60I	NM_003814	NP_003805	O43506	ADA20_HUMAN	Homo sapiens ADAM metallopeptidase domain 20 (ADAM20), mRNA.	10					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GAGTGACCCTGATGTGCACCA	0.522													48	76					0	0	0.01441	0	0	A	70991445	G	A	70991445	2	1	132	1	0	0	0	0	0	0	0	1	242	1280	45	3		3	ADAM20	14	70991445	Silent	SNP	G	TCGA-FG-5965-01B-11D-1893-08	13720525	70991445	36358095	34	6018											
NEDD4	4734	broad.mit.edu	37	chr15	56134228	56134228	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcctccataatccaatcccTtttcaccatcaaactcaatc	12	12	0	17	0	3	0	3	0	0	0	8	0	7	0	5	0	1	0	5	0	4	3			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr15:56134228T>C	uc002adj.3	-	14	3299	c.2999A>G	c.(2998-3000)aAg>aGg	p.K1000R	NEDD4_uc002adl.3_Missense_Mutation_p.K581R|NEDD4_uc002adi.3_Missense_Mutation_p.K928R|NEDD4_uc010ugj.2_Missense_Mutation_p.K984R|NEDD4_uc010bfm.3_Missense_Mutation_p.K983R|NEDD4_uc002adk.3_Non-coding_Transcript	NM_198400	NP_006145	P46934	NEDD4_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4 (NEDD4), transcript variant 2, mRNA.	1000	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	RNA polymerase binding|beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		ATCCAATCCCTTTTCACCATC	0.433													3	113					0	0	0.009096	0	0	C	56134228	T	C	56134228	3	2	132	1	0	0	0	0	1	0	0	0	10310	1609	56	4	1004	4	NEDD4	15	56134228	Missense_Mutation	SNP	T	TCGA-FG-5965-01B-11D-1893-08		56134228	46397164	35	6019											
HS3ST4	9951	broad.mit.edu	37	chr16	26147050	26147050	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaggacatcaaactgatTgtggtggtgagaaaccccgt	12	8	12	9	1	1	2	1	2	0	1	1	4	1	3	3	3	2	0	3	3	3	1			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr16:26147050T>A	uc002dof.3	+	1	1244	c.852T>A	c.(850-852)atT>atA	p.I284I		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	284					heparan sulfate proteoglycan metabolic process	Golgi membrane|extracellular region|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TCAAACTGATTGTGGTGGTGA	0.502													28	169					0	0	0.005524	0	0	A	26147050	T	A	26147050	2	1	132	1	0	0	0	0	0	0	0	1	7367	1800	63	5		5	HS3ST4	16	26147050	Silent	SNP	T	TCGA-FG-5965-01B-11D-1893-08		26147050	64207703	36	6020											
MYBBP1A	10514	broad.mit.edu	37	chr17	4445912	4445912	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggccccaacactcaccGggtgccgggagaagaggctg	9	3	16	13	2	1	2	1	0	0	2	1	3	1	2	4	5	2	2	4	5	2	0			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr17:4445912G>A	uc002fxz.4	-	21	3080	c.3018_splice	c.e21+1	p.P1006_splice	MYBBP1A_uc002fyb.4_Splice_Site_p.P1006_splice|MYBBP1A_uc002fya.4_5'Flank|MYBBP1A_uc010vsa.2_Splice_Site_p.P48_splice	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	1006					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						AACACTCACCGGGTGCCGGGA	0.637													17	88					0	0	0.00499	0	0	A	4445912	G	A	4445912	5	1	132	1	0	0	0	0	0	0	1	0	10008	1130	39	2	1033	2	MYBBP1A	17	4445912	Splice_Site	SNP	G	TCGA-FG-5965-01B-11D-1893-08		4445912	76749298	37	6021											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			22	7					0	0	0.010504	0	0	A	7577121	G	A	7577121	3	1	132	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08	3131209	7577121	73618089	38	6022											
KANK2	25959	broad.mit.edu	37	chr19	11304446	11304446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagggtagaagccacggcCgcagtaggaataggctgagt	11	6	16	8	2	0	3	0	2	0	1	0	4	0	4	2	4	1	4	2	4	5	3	rs147297854		TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:11304446C>T	uc002mqm.3	-	1	389	c.310G>A	c.(310-312)Ggc>Agc	p.G104S	KANK2_uc021upe.1_Missense_Mutation_p.G104S|KANK2_uc002mqo.4_Missense_Mutation_p.G104S|KANK2_uc002mqp.1_5'UTR|KANK2_uc002mqq.3_Missense_Mutation_p.G104S	NM_015493	NP_056308	Q63ZY3	KANK2_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 2 (KANK2), transcript variant 1, mRNA.	104										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AAGCCACGGCCGCAGTAGGAA	0.667													31	76					0	0	0.004878	0	0	T	11304446	C	T	11304446	3	4	132	1	0	0	0	0	1	0	0	0	7977	652	23	2	2309	2	KANK2	19	11304446	Missense_Mutation	SNP	C	TCGA-FG-5965-01B-11D-1893-08		11304446	47824537	39	6023											
EMR3	84658	broad.mit.edu	37	chr19	14749062	14749062	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtcaggttccgtgcagTgaggaagaggtgcacaccct	9	8	13	11	1	1	2	1	1	0	1	2	3	2	3	2	3	2	3	2	3	1	1			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:14749062T>C	uc002mzi.4	-	10	1487	c.1339A>G	c.(1339-1341)Act>Gct	p.T447A	EMR3_uc010dzp.3_Missense_Mutation_p.T395A|EMR3_uc010xnv.2_Missense_Mutation_p.T321A	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	447					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TTCCGTGCAGTGAGGAAGAGG	0.572													34	60					0	0	0.013726	0	0	C	14749062	T	C	14749062	3	2	132	1	0	0	0	0	1	0	0	0	5106	1696	59	3	643	3	EMR3	19	14749062	Missense_Mutation	SNP	T	TCGA-FG-5965-01B-11D-1893-08	3444616	14749062	44379921	40	6024											
RYR1	6261	broad.mit.edu	37	chr19	38958451	38958451	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgtcttcaatgggcaccGcgtgggtacctccctgggca	6	10	12	13	2	2	0	1	0	1	0	3	0	3	0	3	3	1	3	3	3	3	3			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:38958451G>A	uc002oit.3	+	25	3511	c.3381_splice	c.e25+1	p.R1127_splice	RYR1_uc002oiu.3_Splice_Site_p.R1127_splice	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1127	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AATGGGCACCGCGTGGGTACC	0.637													7	44					0	0	0.001984	0	0	A	38958451	G	A	38958451	5	1	132	1	0	0	0	0	0	0	1	0	13768	1101	38	1	3478	1	RYR1	19	38958451	Splice_Site	SNP	G	TCGA-FG-5965-01B-11D-1893-08	24209389	38958451	20170532	41	6025											
CACNG7	59284	broad.mit.edu	37	chr19	54445512	54445512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accctcccgccatcaagtacCcggaccacctgcacatctcc	9	6	5	21	2	2	0	1	0	1	0	4	1	3	1	7	1	2	2	7	1	2	1			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:54445512C>T	uc002qcr.2	+	4	888	c.793C>T	c.(793-795)Ccg>Tcg	p.P265S		NM_031896	NP_114102	P62955	CCG7_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 7 (CACNG7), mRNA.	265				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CATCAAGTACCCGGACCACCT	0.682													8	166					0	0	0.008291	0	0	T	54445512	C	T	54445512	3	4	132	1	0	0	0	0	1	0	0	0	2562	623	22	3	811	3	CACNG7	19	54445512	Missense_Mutation	SNP	C	TCGA-FG-5965-01B-11D-1893-08	15487061	54445512	4683471	42	6026											
MED15	51586	broad.mit.edu	37	chr22	20939211	20939211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagccgctcctggatgccGtcctggccaacatccgctca	6	7	10	18	3	1	0	1	0	0	0	4	1	4	1	7	2	3	2	7	2	1	0			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr22:20939211G>A	uc002zsp.3	+	14	1953	c.1873G>A	c.(1873-1875)Gtc>Atc	p.V625I	MED15_uc002zsq.3_Missense_Mutation_p.V585I|MED15_uc010gso.3_Missense_Mutation_p.V568I|MED15_uc002zsr.3_Missense_Mutation_p.V559I|MED15_uc011ahs.2_Missense_Mutation_p.V559I|MED15_uc002zss.3_Missense_Mutation_p.V504I|MED15_uc011ahu.2_Missense_Mutation_p.V335I|MED15_uc002zst.3_Missense_Mutation_p.V241I|MED15_uc002zsu.3_Missense_Mutation_p.V230I	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.	625					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CCTGGATGCCGTCCTGGCCAA	0.632													52	99					0	0	0.01441	0	0	A	20939211	G	A	20939211	3	1	132	1	0	0	0	0	1	0	0	0	9433	1145	40	1	1931	1	MED15	22	20939211	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08		20939211	30365355	43	6027											
BEND2	139105	broad.mit.edu	37	chrX	18189326	18189326	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catggtcttccaaaatagccTagaagcaaaaaagaaagatg	19	7	8	7	0	1	3	0	0	1	3	2	3	2	3	2	1	2	1	2	1	9	3			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:18189326T>A	uc004cyj.4	-	13	2136	c.1982_splice	c.e13-1	p.S661_splice	BEND2_uc010nfb.2_Intron	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	661										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CAAAATAGCCTAGAAGCAAAA	0.358													17	67					0	0	0.00499	0	0	A	18189326	T	A	18189326	5	1	132	1	0	0	0	0	0	0	1	0	1398	1536	53	5	453	5	BEND2	23	18189326	Splice_Site	SNP	T	TCGA-FG-5965-01B-11D-1893-08		18189326	137081234	44	6028											
HDAC6	10013	broad.mit.edu	37	chrX	48682404	48682404	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgccccatacctgcagcaGgcctagacgtgacccaacct	10	7	8	16	1	0	2	0	1	0	1	0	2	0	2	6	1	5	2	6	1	4	3			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:48682404G>T	uc011mmi.1	+	26	3471	c.3376G>T	c.(3376-3378)Ggc>Tgc	p.G1126C	HDAC6_uc004dks.1_Missense_Mutation_p.G1126C|HDAC6_uc010nig.1_Missense_Mutation_p.G974C|HDAC6_uc004dkt.1_Missense_Mutation_p.G1126C|HDAC6_uc011mmk.1_Missense_Mutation_p.G1107C|HDAC6_uc004dkv.1_Missense_Mutation_p.G774C|HDAC6_uc004dkw.1_Missense_Mutation_p.G774C|HDAC6_uc004dkx.1_Missense_Mutation_p.G489C	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	Homo sapiens histone deacetylase 6 (HDAC6), mRNA.	1126					Hsp90 deacetylation|aggresome assembly|cellular response to hydrogen peroxide|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	Hsp90 protein binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|microtubule binding|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	ACCTGCAGCAGGCCTAGACGT	0.542													30	65					1.2476e-16	6.51914e-16	0.00632	1	0	T	48682404	G	T	48682404	3	4	132	1	0	0	0	0	1	0	0	0	7011	1000	35	5	3478	5	HDAC6	23	48682404	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08	30493078	48682404	106588156	45	6029											
GPKOW	27238	broad.mit.edu	37	chrX	48972594	48972594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggtctggaaggtgtttccGcttcctctctgagttgtcct	3	15	11	12	2	2	1	0	1	2	0	6	2	5	2	4	3	0	3	4	3	1	3			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:48972594G>A	uc004dmr.3	-	6	1004	c.997C>T	c.(997-999)Cgg>Tgg	p.R333W		NM_015698	NP_056513	Q92917	GPKOW_HUMAN	Homo sapiens G patch domain and KOW motifs (GPKOW), mRNA.	333						nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						AGGTGTTTCCGCTTCCTCTCT	0.572													19	86					0	0	0.010504	0	0	A	48972594	G	A	48972594	3	1	132	1	0	0	0	0	1	0	0	0	6613	1086	38	1	453	1	GPKOW	23	48972594	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08	290190	48972594	106297966	46	6030											
DGAT2L6	347516	broad.mit.edu	37	chrX	69424364	69424364	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caatcggcccattaccactgTtggtgagctttcccttatct	7	14	7	13	1	1	1	0	1	1	0	3	1	2	1	3	2	2	2	3	2	3	4			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:69424364T>A	uc004dxx.1	+	5	954	c.857T>A	c.(856-858)gTt>gAt	p.V286D		NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2-like 6 (DGAT2L6), mRNA.	286					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						ATTACCACTGTTGGTGAGCTT	0.502													18	92					0	0	0.007413	0	0	A	69424364	T	A	69424364	3	1	132	1	0	0	0	0	1	0	0	0	4459	1725	60	5	879	5	DGAT2L6	23	69424364	Missense_Mutation	SNP	T	TCGA-FG-5965-01B-11D-1893-08	20451770	69424364	85846196	47	6031											
ATRX	546	broad.mit.edu	37	chrX	76889172	76889172	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatccagtttgtcacacAaaagaactgtatgaagaaaa	19	9	7	6	0	1	4	1	2	0	2	2	4	2	4	1	0	1	2	1	0	8	2			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:76889172A>T	uc004ecp.4	-	17	5070	c.4838T>A	c.(4837-4839)tTg>tAg	p.L1613*	ATRX_uc004ecq.4_Nonsense_Mutation_p.L1575*|ATRX_uc004eco.4_Nonsense_Mutation_p.L1398*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1613	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.L1612V(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTTGTCACACAAAAGAACTGT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						14	37					0	0	0.00245	0	0	T	76889172	A	T	76889172	4	4	132	1	0	0	0	0	0	1	0	0	1208	131	5	5	2712	5	ATRX	23	76889172	Nonsense_Mutation	SNP	A	TCGA-FG-5965-01B-11D-1893-08	7464808	76889172	78381388	48	6032											
GPR174	84636	broad.mit.edu	37	chrX	78427488	78427488	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaccatacagcttccaccatGacacctgaattatgctaaaa	16	9	4	12	0	0	2	0	2	0	0	1	2	1	2	4	0	4	2	4	0	6	4			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:78427488G>C	uc004edg.1	+	0	1020	c.984G>C	c.(982-984)atG>atC	p.M328I		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA.	328						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CTTCCACCATGACACCTGAAT	0.413										HNSCC(63;0.18)			10	87					0	0	0.008291	0	0	C	78427488	G	C	78427488	3	2	132	1	0	0	0	0	1	0	0	0	6672	1290	45	5	986	5	GPR174	23	78427488	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08	1538316	78427488	76843072	49	6033											
RPS6KA6	27330	broad.mit.edu	37	chrX	83403057	83403057	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctaattttctaccttttaaAgaggctttttttaacacctt	10	20	3	8	0	2	1	0	0	2	1	2	1	2	1	2	1	2	1	2	1	5	11			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:83403057A>G	uc004eej.2	-	3	369	c.333T>C	c.(331-333)tcT>tcC	p.S111S	RPS6KA6_uc011mqt.2_Silent_p.S111S|RPS6KA6_uc011mqu.2_Silent_p.S8S|RPS6KA6_uc010nmo.1_Non-coding_Transcript	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	111	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.A110fs*3(1)|p.S111F(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TACCTTTTAAAGAGGCTTTTT	0.303													16	25					0	0	0.004007	0	0	G	83403057	A	G	83403057	2	3	132	1	0	0	0	0	0	0	0	1	13655	59	3	4		4	RPS6KA6	23	83403057	Silent	SNP	A	TCGA-FG-5965-01B-11D-1893-08	4975569	83403057	71867503	50	6034											
XIAP	331	broad.mit.edu	37	chrX	123020096	123020096	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actctactacacaggtattgGtgaccaagtgcagtgctttt	10	13	9	9	0	1	1	0	1	1	0	1	1	1	1	1	2	4	3	1	2	4	6			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:123020096G>C	uc010nqu.3	+	1	710	c.584G>C	c.(583-585)gGt>gCt	p.G195A	XIAP_uc004etx.3_Missense_Mutation_p.G195A|XIAP_uc010nqv.3_Intron	NM_001204401	NP_001191330	P98170	XIAP_HUMAN	Homo sapiens X-linked inhibitor of apoptosis (XIAP), transcript variant 2, mRNA.	195					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						ACAGGTATTGGTGACCAAGTG	0.458									X-linked Lymphoproliferative syndrome				14	112					0	0	0.00245	0	0	C	123020096	G	C	123020096	3	2	132	1	0	0	0	0	1	0	0	0	17425	1261	44	5	586	5	XIAP	23	123020096	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08	39617039	123020096	32250464	51	6035											
TNFRSF9	3604	broad.mit.edu	37	chr1	7980912	7980914	+	In_Frame_Del	DEL	CTT	CTT	-																															atttcacagttcacatcctcCttcttcttcttctggaaatc																										TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr1:7980912_7980914delCTT	uc001aot.3	-	8	1010_1012	c.749_751delAAG	c.(748-753)gaagga>gga	p.E250del		NM_001561	NP_001552	Q07011	TNR9_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA.	250	Interaction with LRR-1.		E -> G (in a colorectal cancer sample; somatic mutation).		induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	p.E250G(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		TCACATCCTCCTTCTTCTTCTTC	0.379													7	264	---	---	---	---						-	7980914	CTT	-	7980912	7	5	133	1	0	1	0	1	0	0	0	0	16297	690	24	0	20	0	TNFRSF9	1	7980912	In_Frame_Del	DEL	CTT	TCGA-FG-6688-01A-11D-1893-08		7980912	241269709	1	6036											
ZNF691	51058	broad.mit.edu	37	chr1	43317456	43317456	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaccagaaaactcacttggGcgaacaggctgggaaagatt	14	6	11	10	1	1	2	1	0	0	2	1	4	1	3	2	3	2	1	2	3	4	2			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr1:43317456G>T	uc021omh.1	+	3	1222	c.920G>T	c.(919-921)gGc>gTc	p.G307V	ZNF691_uc001cig.3_Missense_Mutation_p.G276V|ZNF691_uc009vwm.3_Missense_Mutation_p.G296V|ZNF691_uc001cih.3_Missense_Mutation_p.G303V|ZNF691_uc021omi.1_Missense_Mutation_p.G276V	NM_001242739	NP_001229668	Q5VV52	ZN691_HUMAN	Homo sapiens zinc finger protein 691 (ZNF691), transcript variant 1, mRNA.	139						nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(2)|ovary(2)|prostate(1)	7	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACTCACTTGGGCGAACAGGCT	0.552													6	52					0.00198382	0.00255062	0.001984	1	0	T	43317456	G	T	43317456	3	4	133	1	0	0	0	0	1	0	0	0	18093	1203	42	5	829	5	ZNF691	1	43317456	Missense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08	35336544	43317456	205933165	2	6037											
MYOC	4653	broad.mit.edu	37	chr1	171605340	171605340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttgtctcccaggtttgttCgagttccagattctctgggt	4	17	11	9	1	2	1	0	0	2	1	6	2	3	1	2	2	0	4	2	2	0	5			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr1:171605340C>T	uc001ghu.3	-	2	1262	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	MYOC_uc010pmk.2_Missense_Mutation_p.E356K	NM_000261	NP_000252	Q99972	MYOC_HUMAN	Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.	414	Olfactomedin-like.		E -> K.		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	p.E414K(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CAGGTTTGTTCGAGTTCCAGA	0.527													34	129					0	0	0.004878	0	0	T	171605340	C	T	171605340	3	4	133	1	0	0	0	0	1	0	0	0	10086	893	31	2	278	2	MYOC	1	171605340	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	128287884	171605340	77645281	3	6038											
SNRPE	6635	broad.mit.edu	37	chr1	203832798	203832798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgattatttcagagatcgcGgattcaggtgtggctctatg	9	14	12	6	2	3	2	2	1	1	1	4	4	3	3	0	3	0	1	0	3	2	4			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr1:203832798G>A	uc001hai.3	+	2	137	c.89G>A	c.(88-90)cGg>cAg	p.R30Q	SNRPE_uc010pqn.2_Non-coding_Transcript	NM_003094	NP_003085	P62304	RUXE_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide E (SNRPE), mRNA.	30					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	U12-type spliceosomal complex|U7 snRNP|catalytic step 2 spliceosome|cytosol|nucleoplasm	RNA binding|protein binding			breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGAGATCGCGGATTCAGGTG	0.473													555	123					0	0	0.00361	0	0	A	203832798	G	A	203832798	3	1	133	1	0	0	0	0	1	0	0	0	14867	1116	39	2	99	2	SNRPE	1	203832798	Missense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08	32227458	203832798	45417823	4	6039											
SRBD1	55133	broad.mit.edu	37	chr2	45616592	45616592	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttgcttctgttacatttcGtatgggaatcagcccagatt	8	17	8	8	1	2	1	1	0	1	1	3	2	2	2	1	1	3	3	1	1	3	7			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:45616592G>A	uc002rus.3	-	20	2921	c.2845C>T	c.(2845-2847)Cga>Tga	p.R949*	SRBD1_uc010yoc.2_Nonsense_Mutation_p.R468*	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	949	S1 motif.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		RNA binding|hydrolase activity, acting on ester bonds			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GTTACATTTCGTATGGGAATC	0.433													15	65					0	0	0.003163	0	0	A	45616592	G	A	45616592	4	1	133	1	0	0	0	0	0	1	0	0	15132	1153	40	1	146	1	SRBD1	2	45616592	Nonsense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08		45616592	197582781	5	6040											
PPP3R1	5534	broad.mit.edu	37	chr2	68413615	68413615	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacagcacagaattcttcAaaggatattcttccatctcc	12	13	4	12	0	4	1	1	0	3	1	6	2	5	2	2	1	2	1	2	1	4	6			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:68413615A>G	uc002sei.1	-	4	842	c.450T>C	c.(448-450)ttT>ttC	p.F150F		NM_000945	NP_000936	P63098	CANB1_HUMAN	Homo sapiens protein phosphatase 3, regulatory subunit B, alpha (PPP3R1), mRNA.	150	EF-hand 4.				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	calcineurin complex|cytosol	calcium ion binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding			large_intestine(1)	1					Pimecrolimus(DB00337)	AGAATTCTTCAAAGGATATTC	0.333													14	93					0	0	0.004007	0	0	G	68413615	A	G	68413615	2	3	133	1	0	0	0	0	0	0	0	1	12400	127	5	3		3	PPP3R1	2	68413615	Silent	SNP	A	TCGA-FG-6688-01A-11D-1893-08	22797023	68413615	174785758	6	6041											
CHST10	9486	broad.mit.edu	37	chr2	101009737	101009737	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaaagtctggtttctggtaCccaaagagcttaaagtcccc	13	10	8	10	0	2	1	0	0	2	1	3	1	3	1	3	2	2	3	3	2	6	3			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:101009737C>A	uc002tam.3	-	6	1439	c.1041G>T	c.(1039-1041)ggG>ggT	p.G347G		NM_004854	NP_004845	O43529	CHSTA_HUMAN	Homo sapiens carbohydrate sulfotransferase 10 (CHST10), mRNA.	347					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GTTTCTGGTACCCAAAGAGCT	0.448													14	101					6.49762e-13	8.89891e-13	0.006122	1	0	A	101009737	C	A	101009737	2	1	133	1	0	0	0	0	0	0	0	1	3398	494	18	5		5	CHST10	2	101009737	Silent	SNP	C	TCGA-FG-6688-01A-11D-1893-08	32596122	101009737	142189636	7	6042											
IL1RL1	9173	broad.mit.edu	37	chr2	102957203	102957203	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataatgtgatgactgaggaCgcaggtgattacacctgtaa	13	10	12	6	1	0	4	0	4	0	0	0	6	0	5	1	2	1	2	1	2	3	3			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:102957203C>T	uc002tbu.1	+	4	796	c.525C>T	c.(523-525)gaC>gaT	p.D175D	IL1RL1_uc010ywa.2_Silent_p.D58D|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Silent_p.D175D	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	175	Ig-like C2-type 2.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TGACTGAGGACGCAGGTGATT	0.423													21	89					0	0	0.00278	0	0	T	102957203	C	T	102957203	2	4	133	1	0	0	0	0	0	0	0	1	7663	535	19	1		1	IL1RL1	2	102957203	Silent	SNP	C	TCGA-FG-6688-01A-11D-1893-08	1947466	102957203	140242170	8	6043											
MYO7B	4648	broad.mit.edu	37	chr2	128341815	128341815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatctcctgggactatatcCactacaccgacaatcggccc	11	8	6	16	2	1	0	0	0	1	0	4	2	2	1	4	2	1	0	4	2	4	3			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:128341815C>T	uc002top.3	+	12	1515	c.1462C>T	c.(1462-1464)Cac>Tac	p.H488Y		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	488	Myosin head-like.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGACTATATCCACTACACCGA	0.577													14	77					0	0	0.003163	0	0	T	128341815	C	T	128341815	3	4	133	1	0	0	0	0	1	0	0	0	10083	594	21	3	1508	3	MYO7B	2	128341815	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	25384612	128341815	114857558	9	6044											
TTN	7273	broad.mit.edu	37	chr2	179396156	179396156	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttaaatgatgaaacagcAtacgcctctgttcttgtcag	11	14	7	9	1	4	2	1	2	3	0	4	2	4	2	1	0	3	2	1	0	4	5			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:179396156A>G	uc021vsy.1	-	306	97707	c.97482T>C	c.(97480-97482)taT>taC	p.Y32494Y	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.Y26189Y|TTN_uc021vta.1_Silent_p.Y26122Y|TTN_uc021vtb.1_Silent_p.Y25997Y|TTN_uc002umq.3_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33421							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGAAACAGCATACGCCTCTG	0.473													33	120					0	0	0.002445	0	0	G	179396156	A	G	179396156	2	3	133	1	0	0	0	0	0	0	0	1	16732	224	8	3		3	TTN	2	179396156	Silent	SNP	A	TCGA-FG-6688-01A-11D-1893-08	51054341	179396156	63803217	10	6045											
TTN	7273	broad.mit.edu	37	chr2	179585342	179585342	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attggagaatcacatcagaaCctttaagagctcctactgga	14	10	8	9	0	2	3	2	0	0	3	3	5	3	4	2	2	3	1	2	2	4	4			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:179585342C>A	uc021vsy.1	-	76	19640	c.19415G>T	c.(19414-19416)gGt>gTt	p.G6472V	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G3133V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7399	Ig-like 46.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L6471I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACATCAGAACCTTTAAGAGC	0.393													5	34					2.0095e-06	2.66523e-06	0.001984	1	0	A	179585342	C	A	179585342	3	1	133	1	0	0	0	0	1	0	0	0	16732	507	18	5	81514	5	TTN	2	179585342	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	189186	179585342	63614031	11	6046											
PTH2R	5746	broad.mit.edu	37	chr2	209309554	209309554	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctacctgcataatctcatCtttgtggctttcttttcgga	6	18	6	11	1	4	0	1	0	4	0	6	1	4	1	1	2	2	2	1	2	2	6	rs143390240		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:209309554C>A	uc010zjb.2	+	6	1114	c.828C>A	c.(826-828)atC>atA	p.I276I	PTH2R_uc002vdb.3_Silent_p.I265I	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	265						integral to plasma membrane	parathyroid hormone receptor activity	p.L276L(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		ATAATCTCATCTTTGTGGCTT	0.413													36	192					2.24893e-16	3.11391e-16	0.002222	1	0	A	209309554	C	A	209309554	2	1	133	1	0	0	0	0	0	0	0	1	12760	903	32	5		5	PTH2R	2	209309554	Silent	SNP	C	TCGA-FG-6688-01A-11D-1893-08	29724212	209309554	33889819	12	6047											
SCN10A	6336	broad.mit.edu	37	chr3	38755451	38755451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttgagatcagacttacccGcatgccttcaaatcgagaaa	13	11	7	10	2	2	3	2	1	0	3	3	5	2	3	2	0	2	1	2	0	3	4			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr3:38755451G>A	uc003ciq.3	-	20	3802	c.3802C>T	c.(3802-3804)Cgg>Tgg	p.R1268W		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1268					sensory perception	voltage-gated sodium channel complex		p.R1268W(2)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGACTTACCCGCATGCCTTCA	0.552													22	93					0	0	0.00333	0	0	A	38755451	G	A	38755451	3	1	133	1	0	0	0	0	1	0	0	0	13912	1086	38	1	2096	1	SCN10A	3	38755451	Missense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08		38755451	159266979	13	6048											
SETD2	29072	broad.mit.edu	37	chr3	47098400	47098400	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgataatatatggttgcttGagactgtgcaggagagtact	11	14	12	4	0	0	3	0	2	0	2	0	5	0	3	0	2	3	4	0	2	4	7			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr3:47098400G>A	uc003cqv.3	-	15	7161	c.7075C>T	c.(7075-7077)Caa>Taa	p.Q2359*	SETD2_uc003cqs.3_Nonsense_Mutation_p.Q2292*	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	2292	Gln-rich.|Low charge region.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATGGTTGCTTGAGACTGTGCA	0.463			"N, F, S, Mis"		clear cell renal carcinoma								14	87					0	0	0.001855	0	0	A	47098400	G	A	47098400	4	1	133	1	0	0	0	0	0	1	0	0	14131	1299	45	3	848	3	SETD2	3	47098400	Nonsense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08	8342949	47098400	150924030	14	6049											
ERC2	26059	broad.mit.edu	37	chr3	56026258	56026258	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcagggttcatcctggaGtcatcttcaatattatgtgc	10	14	8	9	0	5	0	4	0	1	0	6	1	6	1	1	2	2	1	1	2	4	4			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr3:56026258G>A	uc021wzo.1	-	9	2222	c.2082C>T	c.(2080-2082)gaC>gaT	p.D694D	ERC2_uc003dhr.1_Silent_p.D694D|ERC2_uc003dht.1_Silent_p.D177D	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	694						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCATCCTGGAGTCATCTTCAA	0.428													33	185					0	0	0.00623	0	0	A	56026258	G	A	56026258	2	1	133	1	0	0	0	0	0	0	0	1	5211	1020	36	3		3	ERC2	3	56026258	Silent	SNP	G	TCGA-FG-6688-01A-11D-1893-08	8927858	56026258	141996172	15	6050											
MORC1	27136	broad.mit.edu	37	chr3	108773665	108773665	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacattgagaaattcctgttTattatgggatggttccatga	11	15	10	5	0	0	2	0	2	0	1	2	5	2	3	2	2	0	2	2	2	3	6			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr3:108773665T>A	uc003dxl.3	-	13	1327	c.1240A>T	c.(1240-1242)Aaa>Taa	p.K414*	MORC1_uc011bhn.2_Nonsense_Mutation_p.K414*	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	414					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AATTCCTGTTTATTATGGGAT	0.383													18	72					0	0	0.008871	0	0	A	108773665	T	A	108773665	4	1	133	1	0	0	0	0	0	1	0	0	9701	1763	61	5	1774	5	MORC1	3	108773665	Nonsense_Mutation	SNP	T	TCGA-FG-6688-01A-11D-1893-08	52747407	108773665	89248765	16	6051											
TRIM60	166655	broad.mit.edu	37	chr4	165962269	165962269	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagagatttagttctggcCgacattactgggaagtagaa	12	11	11	7	1	2	2	1	0	1	2	2	5	2	3	1	2	1	2	1	2	5	5			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr4:165962269C>T	uc003iqy.1	+	2	1215	c.1045C>T	c.(1045-1047)Cga>Tga	p.R349*	TRIM60_uc010iqx.1_Nonsense_Mutation_p.R349*|TRIM60_uc021xty.1_Nonsense_Mutation_p.R349*	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	Homo sapiens tripartite motif containing 60 (TRIM60), mRNA.	349	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TAGTTCTGGCCGACATTACTG	0.433													20	104					0	0	0.001882	0	0	T	165962269	C	T	165962269	4	4	133	1	0	0	0	0	0	1	0	0	16532	644	23	2	1047	2	TRIM60	4	165962269	Nonsense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08		165962269	25192007	17	6052											
PRLR	5618	broad.mit.edu	37	chr5	35065590	35065590	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggggcagcagccagggCgtatcctggtcagtctcaga	7	8	14	12	1	2	1	2	0	1	1	5	1	4	1	3	4	2	3	3	4	1	1			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr5:35065590C>T	uc003jjm.3	-	9	2029	c.1470G>A	c.(1468-1470)acG>acA	p.T490T	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Silent_p.T389T|PRLR_uc021xxl.1_Intron	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	490					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	p.T490T(2)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GCAGCCAGGGCGTATCCTGGT	0.483													25	121					0	0	0.003954	0	0	T	35065590	C	T	35065590	2	4	133	1	0	0	0	0	0	0	0	1	12531	755	27	1		1	PRLR	5	35065590	Silent	SNP	C	TCGA-FG-6688-01A-11D-1893-08		35065590	145849670	18	6053											
PCDHAC2	56134	broad.mit.edu	37	chr5	140166068	140166068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggtgcctcgcctgttcCgggtggcgtccaaaacacac	7	8	12	14	3	0	0	0	0	0	0	3	0	2	0	4	3	3	2	4	3	2	1			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr5:140166068C>T	uc003lhb.2	+	0	193	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	PCDHAC2_uc003lha.2_Missense_Mutation_p.R65W|PCDHAC2_uc003lgz.3_Missense_Mutation_p.R65W	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	78	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCCTGTTCCGGGTGGCGTC	0.587													30	119					0	0	0.002096	0	0	T	140166068	C	T	140166068	3	4	133	1	0	0	0	0	1	0	0	0	11533	643	23	2		2	PCDHAC2	5	140166068	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	105100478	140166068	40749192	19	6054											
PCDHAC2	56134	broad.mit.edu	37	chr5	140176926	140176926	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacagctctcagaatcagaaTacgtaggaaaggtgagtctt	15	9	10	7	1	3	3	2	1	2	2	4	4	3	4	0	2	3	2	0	2	6	3			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr5:140176926T>C	uc003lhd.2	+	0	2483	c.2377T>C	c.(2377-2379)Tac>Cac	p.Y793H	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.Y793H|PCDHAC2_uc011czy.2_Missense_Mutation_p.Y793H	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	831					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAATCAGAATACGTAGGAAA	0.403													14	48					0	0	0.001855	0	0	C	140176926	T	C	140176926	3	2	133	1	0	0	0	0	1	0	0	0	11533	1406	49	3		3	PCDHAC2	5	140176926	Missense_Mutation	SNP	T	TCGA-FG-6688-01A-11D-1893-08	10858	140176926	40738334	20	6055											
PCDHAC2	56134	broad.mit.edu	37	chr5	140182210	140182210	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgggctgccacatcttcacGgtgtctgcgcgggacgcgga	5	7	15	14	6	3	0	1	0	2	0	3	2	3	2	2	4	2	1	2	4	0	1			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr5:140182210G>T	uc003lhf.2	+	0	1428	c.1428G>T	c.(1426-1428)acG>acT	p.T476T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.T476T	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	490	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATCTTCACGGTGTCTGCGC	0.667													5	220					1.08611e-07	1.45585e-07	0.000978	1	0	T	140182210	G	T	140182210	2	4	133	1	0	0	0	0	0	0	0	1	11533	1103	39	5		5	PCDHAC2	5	140182210	Silent	SNP	G	TCGA-FG-6688-01A-11D-1893-08	5284	140182210	40733050	21	6056											
PCDHGC5	56097	broad.mit.edu	37	chr5	140736510	140736510	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagctggcaccccgctcCgcagattccggctacctggt	5	8	13	15	3	0	1	0	0	0	1	2	2	2	2	5	4	2	5	5	4	1	2			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr5:140736510C>T	uc003ljq.2	+	0	1743	c.1743C>T	c.(1741-1743)tcC>tcT	p.S581S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Silent_p.S581S	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	582	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCCCGCTCCGCAGATTCCG	0.592													38	192					0	0	0.00623	0	0	T	140736510	C	T	140736510	2	4	133	1	0	0	0	0	0	0	0	1	11571	639	23	2		2	PCDHGC5	5	140736510	Silent	SNP	C	TCGA-FG-6688-01A-11D-1893-08	554300	140736510	40178750	22	6057											
RARS	5917	broad.mit.edu	37	chr5	167921621	167921621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaccagtcttctagtgaatgGagttcaactacctgctctgg	9	12	10	10	0	4	1	1	1	3	0	4	3	4	2	2	2	3	2	2	2	4	4			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr5:167921621G>A	uc003lzx.3	+	4	586	c.545G>A	c.(544-546)gGa>gAa	p.G182E	RARS_uc011deo.2_5'UTR	NM_002887	NP_002878	P54136	SYRC_HUMAN	Homo sapiens arginyl-tRNA synthetase (RARS), mRNA.	182					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|arginine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		CTAGTGAATGGAGTTCAACTA	0.343													14	87					0	0	0.004007	0	0	A	167921621	G	A	167921621	3	1	133	1	0	0	0	0	1	0	0	0	13058	1174	41	3	563	3	RARS	5	167921621	Missense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08	27185111	167921621	12993639	23	6058											
FARS2	10667	broad.mit.edu	37	chr6	5431389	5431389	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctgcggggtgatggaacaAcaactggtcaattcaggtaa	12	8	14	7	1	2	1	2	1	0	0	2	2	2	2	0	6	4	2	0	6	5	2			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr6:5431389A>G	uc010jnv.1	+	3	1224	c.888A>G	c.(886-888)caA>caG	p.Q296Q	FARS2_uc003mwr.2_Silent_p.Q296Q	NM_006567	NP_006558	O95363	SYFM_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2), nuclear gene encoding mitochondrial protein, mRNA.	296					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	TGATGGAACAACAACTGGTCA	0.458													20	112					0	0	0.008871	0	0	G	5431389	A	G	5431389	2	3	133	1	0	0	0	0	0	0	0	1	5678	40	2	3		3	FARS2	6	5431389	Silent	SNP	A	TCGA-FG-6688-01A-11D-1893-08		5431389	165683678	24	6059											
SPDEF	25803	broad.mit.edu	37	chr6	34508917	34508917	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtattggtgctctgtccacaGgagccacttctgcacattgc	7	12	10	12	0	2	0	0	0	2	0	3	1	3	1	2	2	4	3	2	2	1	4			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr6:34508917G>A	uc003ojq.2	-	2	912	c.478C>T	c.(478-480)Ctg>Ttg	p.L160L	SPDEF_uc011dsq.2_Silent_p.L160L	NM_012391	NP_036523	O95238	SPDEF_HUMAN	Homo sapiens SAM pointed domain containing ets transcription factor (SPDEF), transcript variant 1, mRNA.	160	PNT.				negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						TCTGTCCACAGGAGCCACTTC	0.642													7	9					0	0	0.004482	0	0	A	34508917	G	A	34508917	2	1	133	1	0	0	0	0	0	0	0	1	15025	991	35	3		3	SPDEF	6	34508917	Silent	SNP	G	TCGA-FG-6688-01A-11D-1893-08	29077528	34508917	136606150	25	6060											
TDRD6	221400	broad.mit.edu	37	chr6	46655895	46655895	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcccggaatgccggcgccGggggcctcgctggccctgcg	3	4	17	17	7	0	0	0	0	0	0	1	1	0	1	5	5	2	1	5	5	1	0			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr6:46655895G>A	uc003oyj.3	+	0	284	c.30G>A	c.(28-30)ccG>ccA	p.P10P	TDRD6_uc010jze.3_Silent_p.P10P	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	10					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGCCGGCGCCGGGGGCCTCGC	0.721													3	7					0	0	0.004672	0	0	A	46655895	G	A	46655895	2	1	133	1	0	0	0	0	0	0	0	1	15731	1103	39	2		2	TDRD6	6	46655895	Silent	SNP	G	TCGA-FG-6688-01A-11D-1893-08	12146978	46655895	124459172	26	6061											
DSE	29940	broad.mit.edu	37	chr6	116758080	116758080	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagggcaggcaaacgctatAaatttgtggatgctgtccct	11	10	12	8	1	0	0	0	0	0	0	1	2	1	1	1	3	2	4	1	3	5	3			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr6:116758080A>C	uc011ebg.2	+	5	2605	c.2506A>C	c.(2506-2508)Aaa>Caa	p.K836Q	DSE_uc003pws.3_Missense_Mutation_p.K817Q|DSE_uc003pwt.3_Missense_Mutation_p.K817Q|DSE_uc003pwu.3_Missense_Mutation_p.K484Q	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	817					dermatan sulfate biosynthetic process	Golgi apparatus|endoplasmic reticulum|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CAAACGCTATAAATTTGTGGA	0.423													8	48					0	0	0.00308	0	0	C	116758080	A	C	116758080	3	2	133	1	0	0	0	0	1	0	0	0	4774	363	13	5	2467	5	DSE	6	116758080	Missense_Mutation	SNP	A	TCGA-FG-6688-01A-11D-1893-08	70102185	116758080	54356987	27	6062											
ABCA13	154664	broad.mit.edu	37	chr7	48320993	48320993	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaagccctcagaagccaTggagatgctgcagaaagtga	13	7	13	8	0	1	5	1	2	0	3	1	6	1	5	2	1	4	2	2	1	3	0			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr7:48320993T>C	uc003toq.2	+	18	8804	c.8780T>C	c.(8779-8781)aTg>aCg	p.M2927T	ABCA13_uc010kys.1_Missense_Mutation_p.M1T	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	2927					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCAGAAGCCATGGAGATGCTG	0.438													4	25					0	0	0.000248	0	0	C	48320993	T	C	48320993	3	2	133	1	0	0	0	0	1	0	0	0	31	1464	51	3	8683	3	ABCA13	7	48320993	Missense_Mutation	SNP	T	TCGA-FG-6688-01A-11D-1893-08		48320993	110817670	28	6063											
COBL	23242	broad.mit.edu	37	chr7	51096966	51096966	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gataaggccacacggattccTtttccgacgtcatgggaagc	10	9	11	11	3	1	0	1	0	0	0	3	4	3	2	3	3	1	0	3	3	2	4			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr7:51096966T>C	uc003tps.3	-	10	2183	c.1998A>G	c.(1996-1998)aaA>aaG	p.K666K	COBL_uc003tpr.4_Silent_p.K609K|COBL_uc011kcl.2_Silent_p.K609K|COBL_uc003tpp.4_Silent_p.K395K|COBL_uc003tpq.4_Silent_p.K550K|COBL_uc003tpo.4_Silent_p.K151K	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	609										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CACGGATTCCTTTTCCGACGT	0.537													3	112					0	0	0.000248	0	0	C	51096966	T	C	51096966	2	2	133	1	0	0	0	0	0	0	0	1	3653	1606	56	4		4	COBL	7	51096966	Silent	SNP	T	TCGA-FG-6688-01A-11D-1893-08	2775973	51096966	108041697	29	6064											
MUC17	140453	broad.mit.edu	37	chr7	100679593	100679593	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctagtgaaggaagtcctctAttaacaagtatacctgtcag	13	11	8	9	0	2	1	1	1	1	0	3	2	3	2	3	1	2	1	3	1	8	5			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr7:100679593A>G	uc003uxp.1	+	2	4949	c.4896A>G	c.(4894-4896)ctA>ctG	p.L1632L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1632	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGTCCTCTATTAACAAGTA	0.493													64	557					0	0	0.00361	0	0	G	100679593	A	G	100679593	2	3	133	1	0	0	0	0	0	0	0	1	9974	436	16	3		3	MUC17	7	100679593	Silent	SNP	A	TCGA-FG-6688-01A-11D-1893-08	49582627	100679593	58459070	30	6065											
MLL5	55904	broad.mit.edu	37	chr7	104753522	104753522	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcataccactttgggaccGggaccccagcaccagccttc	9	7	8	17	1	1	0	1	0	0	0	2	2	1	2	6	2	3	1	6	2	1	3			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr7:104753522G>A	uc003vcm.3	+	26	5853	c.5319G>A	c.(5317-5319)ccG>ccA	p.P1773P	MLL5_uc010ljc.3_Silent_p.P1773P|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.3_Silent_p.P507P	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	1773	Pro-rich.				DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						CTTTGGGACCGGGACCCCAGC	0.532													40	206					0	0	0.002852	0	0	A	104753522	G	A	104753522	2	1	133	1	0	0	0	0	0	0	0	1	9624	1103	39	2		2	MLL5	7	104753522	Silent	SNP	G	TCGA-FG-6688-01A-11D-1893-08	4073929	104753522	54385141	31	6066											
FLNC	2318	broad.mit.edu	37	chr7	128489530	128489530	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtggttgagaaccatgaCggtacctttgacatctacta	11	12	10	8	1	1	3	0	3	1	1	1	5	1	3	2	2	3	2	2	2	4	5			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr7:128489530C>T	uc003vnz.4	+	29	5306	c.5097C>T	c.(5095-5097)gaC>gaT	p.D1699D	FLNC_uc003voa.4_Silent_p.D1699D	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1699					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGAACCATGACGGTACCTTTG	0.612													10	88					0	0	0.000978	0	0	T	128489530	C	T	128489530	2	4	133	1	0	0	0	0	0	0	0	1	5935	535	19	1		1	FLNC	7	128489530	Silent	SNP	C	TCGA-FG-6688-01A-11D-1893-08	23736008	128489530	30649133	32	6067											
TSPAN33	340348	broad.mit.edu	37	chr7	128802337	128802337	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgcattgggtccctccGcgagaacatctgcctcctgc	5	10	11	15	2	1	1	0	0	1	1	4	2	4	1	4	2	4	2	4	2	1	1			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr7:128802337G>A	uc003vop.2	+	2	372	c.263G>A	c.(262-264)cGc>cAc	p.R88H		NM_178562	NP_848657	Q86UF1	TSN33_HUMAN	Homo sapiens tetraspanin 33 (TSPAN33), mRNA.	88						integral to membrane		p.R88R(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						GGGTCCCTCCGCGAGAACATC	0.627													6	47					0	0	0.00308	0	0	A	128802337	G	A	128802337	3	1	133	1	0	0	0	0	1	0	0	0	16645	1087	38	1	273	1	TSPAN33	7	128802337	Missense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08	312807	128802337	30336326	33	6068											
DENND3	22898	broad.mit.edu	37	chr8	142176321	142176321	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctaagtccaaggagacCgaccgttgagaaaagagcct	13	7	11	10	2	1	3	0	1	1	3	2	6	2	3	4	1	1	2	4	1	4	3			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr8:142176321C>G	uc003yvy.3	+	11	1624	c.1346C>G	c.(1345-1347)cCg>cGg	p.P449R	DENND3_uc010mep.3_Missense_Mutation_p.P410R|DENND3_uc003yvz.1_Missense_Mutation_p.P133R	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	449								p.P449L(2)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAAGGAGACCGACCGTTGAG	0.483													6	257					0	0	0.001168	0	0	G	142176321	C	G	142176321	3	3	133	1	0	0	0	0	1	0	0	0	4432	652	23	5	1388	5	DENND3	8	142176321	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08		142176321	4187701	34	6069											
TLN1	7094	broad.mit.edu	37	chr9	35717307	35717307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggctgctgctcctacccctCgcaacagttgcccatcctct	5	11	7	18	1	1	0	0	0	1	0	4	0	3	0	5	1	5	5	5	1	2	2			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr9:35717307C>T	uc003zxt.2	-	18	2648	c.2294G>A	c.(2293-2295)cGa>cAa	p.R765Q		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	765					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCCTACCCCTCGCAACAGTTG	0.617													29	108					0	0	0.002096	0	0	T	35717307	C	T	35717307	3	4	133	1	0	0	0	0	1	0	0	0	15944	884	31	2	5487	2	TLN1	9	35717307	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08		35717307	105496124	35	6070											
ANXA1	301	broad.mit.edu	37	chr9	75783993	75783993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcaggattatggtttccCgttctgaaattgacatgaat	11	15	9	6	1	2	4	1	4	1	0	3	5	3	5	1	2	0	2	1	2	3	4			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr9:75783993C>T	uc004ajf.1	+	11	981	c.907C>T	c.(907-909)Cgt>Tgt	p.R303C	ANXA1_uc004ajg.1_Missense_Mutation_p.R303C	NM_000700	NP_000691	P04083	ANXA1_HUMAN	Homo sapiens annexin A1 (ANXA1), mRNA.	303					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity	p.R303S(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TATGGTTTCCCGTTCTGAAAT	0.388													29	126					0	0	0.00632	0	0	T	75783993	C	T	75783993	3	4	133	1	0	0	0	0	1	0	0	0	714	652	23	2	949	2	ANXA1	9	75783993	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	40066686	75783993	65429438	36	6071											
NIPSNAP3B	55335	broad.mit.edu	37	chr9	107513272	107513272	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctacgggacccagacaataCgatggaatattctatgaatt	14	10	9	8	2	1	2	0	1	1	1	1	5	1	4	1	2	2	1	1	2	7	6	rs146388542	byFrequency	TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr9:107513272C>T	uc004bch.1	+	1	201	c.96C>T	c.(94-96)taC>taT	p.Y32Y	NIPSNAP3B_uc011lvt.2_Silent_p.Y32Y|NIPSNAP3B_uc011lvu.1_Silent_p.Y32Y	NM_015469	NP_056284	Q9BS92	NPS3B_HUMAN	Homo sapiens nipsnap homolog 3A (C. elegans) (NIPSNAP3A), mRNA.	32										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						CCAGACAATACGATGGAATAT	0.363													15	90					0	0	0.00245	0	0	T	107513272	C	T	107513272	2	4	133	1	0	0	0	0	0	0	0	1	10431	547	19	1		1	NIPSNAP3B	9	107513272	Silent	SNP	C	TCGA-FG-6688-01A-11D-1893-08	31729279	107513272	33700159	37	6072											
NRAP	4892	broad.mit.edu	37	chr10	115401191	115401191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccataccaactccttcatagCggcctctcatgtggttctgg	7	12	8	14	1	3	0	2	0	2	0	5	0	4	0	4	3	3	1	4	3	3	4	rs138124439		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr10:115401191C>T	uc001lal.3	-	12	1420	c.1256G>A	c.(1255-1257)cGc>cAc	p.R419H	NRAP_uc001laj.3_Missense_Mutation_p.R419H|NRAP_uc001lak.3_Missense_Mutation_p.R384H	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	419						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TCCTTCATAGCGGCCTCTCAT	0.438													25	93					0	0	0.005443	0	0	T	115401191	C	T	115401191	3	4	133	1	0	0	0	0	1	0	0	0	10638	768	27	1	4056	1	NRAP	10	115401191	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08		115401191	20133556	38	6073											
PHF21A	51317	broad.mit.edu	37	chr11	46098353	46098356	+	Frame_Shift_Del	DEL	TTTC	TTTC	-																															gcttggagttcatgaagctgTttctttaagtcagcattctg																										TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr11:46098353_46098356delTTTC	uc001ncc.4	-	4	726_729	c.102_105delGAAA	c.(100-105)aagaaafs	p.K34fs	PHF21A_uc001ncb.4_Frame_Shift_Del_p.K34fs|PHF21A_uc009ykx.3_Frame_Shift_Del_p.K34fs|PHF21A_uc001nce.2_Frame_Shift_Del_p.K34fs	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 1, mRNA.	34	Gln-rich.				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						CATGAAGCTGTTTCTTTAAGTCAG	0.368													10	82	---	---	---	---						-	46098356	TTTC	-	46098353	7	5	133	1	0	1	0	1	0	0	0	0	11833	1722	60	0	2023	0	PHF21A	11	46098353	Frame_Shift_Del	DEL	TTTC	TCGA-FG-6688-01A-11D-1893-08		46098353	88908163	39	6074											
PRSS23	11098	broad.mit.edu	37	chr11	86519582	86519582	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttctgtgacgtcaaagaCgagacctatgacttgctcta	10	11	9	11	3	3	4	1	2	2	2	3	5	3	4	1	0	1	2	1	0	3	4	rs150416218		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr11:86519582C>A	uc021qok.1	+	0	897	c.897C>A	c.(895-897)gaC>gaA	p.D299E	PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Missense_Mutation_p.D267E|PRSS23_uc001pcb.3_Missense_Mutation_p.D299E	NM_007173	NP_009104	O95084	PRS23_HUMAN	Homo sapiens protease, serine, 23 (PRSS23), mRNA.	299					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACGTCAAAGACGAGACCTATG	0.557													15	114					3.52763e-06	4.63002e-06	0.00499	1	0	A	86519582	C	A	86519582	3	1	133	1	0	0	0	0	1	0	0	0	12620	535	19	5	899	5	PRSS23	11	86519582	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	40421229	86519582	48486934	40	6075											
APOA4	337	broad.mit.edu	37	chr11	116691938	116691938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcccctcggtgttgcccCtcaggttgccacgcacgtcc	4	8	11	18	3	1	0	1	0	0	0	3	0	2	0	6	2	3	4	6	2	0	2	rs1042372		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr11:116691938C>T	uc001pps.1	-	2	940	c.836G>A	c.(835-837)aGg>aAg	p.R279K		NM_000482	NP_000473			Homo sapiens apolipoprotein A-IV (APOA4), mRNA.									p.L278Q(1)		cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GGTGTTGCCCCTCAGGTTGCC	0.677													6	118					0	0	0.001168	0	0	T	116691938	C	T	116691938	3	4	133	1	0	0	0	0	1	0	0	0	783	681	24	3	358	3	APOA4	11	116691938	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	30172356	116691938	18314578	41	6076											
TMEM225	338661	broad.mit.edu	37	chr11	123753867	123753867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagcccaggttacgtgaCgtgtttggacttttttgttt	7	16	11	7	2	0	2	0	1	0	1	0	3	0	3	1	2	2	3	1	2	1	6	rs114749572	byFrequency	TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr11:123753867C>T	uc001pzi.3	-	3	864	c.656G>A	c.(655-657)cGt>cAt	p.R219H		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	Homo sapiens transmembrane protein 225 (TMEM225), mRNA.	219						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						GGTTACGTGACGTGTTTGGAC	0.418													8	93					0	0	0.006214	0	0	T	123753867	C	T	123753867	3	4	133	1	0	0	0	0	1	0	0	0	16144	536	19	1	25	1	TMEM225	11	123753867	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	7061929	123753867	11252649	42	6077											
ADAMTS15	170689	broad.mit.edu	37	chr11	130341228	130341228	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacaagtgtggggtgtgtggGggagacaataagagctgcaa	12	7	18	4	0	0	2	0	0	0	2	0	4	0	2	0	4	2	2	0	4	4	1			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr11:130341228G>A	uc010scd.2	+	6	2028	c.2028G>A	c.(2026-2028)ggG>ggA	p.G676G		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	676	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G676E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GGGTGTGTGGGGGAGACAATA	0.572													12	69					0	0	0.00245	0	0	A	130341228	G	A	130341228	2	1	133	1	0	0	0	0	0	0	0	1	260	1219	43	3		3	ADAMTS15	11	130341228	Silent	SNP	G	TCGA-FG-6688-01A-11D-1893-08	6587361	130341228	4665288	43	6078											
CHD4	1108	broad.mit.edu	37	chr12	6702730	6702730	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcaaactcccgctcccagTtgatgatggtagaaagaggg	11	10	11	9	1	1	4	1	2	0	2	3	4	3	4	2	2	1	3	2	2	3	3			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr12:6702730T>C	uc001qpo.3	-	15	2530	c.2366A>G	c.(2365-2367)aAc>aGc	p.N789S	CHD4_uc001qpn.3_Missense_Mutation_p.N782S|CHD4_uc001qpp.3_Missense_Mutation_p.N786S	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	789	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CCGCTCCCAGTTGATGATGGT	0.532													29	147					0	0	0.005443	0	0	C	6702730	T	C	6702730	3	2	133	1	0	0	0	0	1	0	0	0	3327	1725	60	3	3472	3	CHD4	12	6702730	Missense_Mutation	SNP	T	TCGA-FG-6688-01A-11D-1893-08		6702730	127149165	44	6079											
CLEC4C	170482	broad.mit.edu	37	chr12	7883393	7883393	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacctcattctatactcacGtgacattttcattgtatggt	9	18	5	9	1	4	1	3	1	1	0	4	1	4	1	1	1	2	1	1	1	4	8			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr12:7883393G>A	uc001qtg.1	-	5	671	c.497_splice	c.e5+1	p.T166_splice	CLEC4C_uc001qth.1_Splice_Site_p.T166_splice|CLEC4C_uc001qti.1_Splice_Site_p.T135_splice	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN	Homo sapiens C-type lectin domain family 4, member C (CLEC4C), transcript variant 1, mRNA.	166	C-type lectin.				innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		CTATACTCACGTGACATTTTC	0.433													18	99					0	0	0.001523	0	0	A	7883393	G	A	7883393	5	1	133	1	0	0	0	0	0	0	1	0	3513	1159	40	1	152	1	CLEC4C	12	7883393	Splice_Site	SNP	G	TCGA-FG-6688-01A-11D-1893-08	1180663	7883393	125968502	45	6080											
PIP4K2C	79837	broad.mit.edu	37	chr12	57989740	57989740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttccttatctcctacgatCggactctggtcatcaaagaa	10	12	7	12	2	4	1	2	0	2	1	7	3	5	2	2	2	1	1	2	2	4	3	rs144510690		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr12:57989740C>T	uc001sou.3	+	3	570	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	PIP4K2C_uc001sot.3_Missense_Mutation_p.R147W|PIP4K2C_uc010srs.2_Missense_Mutation_p.R129W|PIP4K2C_uc010srt.2_Intron	NM_001146258	NP_079055	Q8TBX8	PI42C_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, gamma (PIP4K2C), transcript variant 2, mRNA.	147	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	p.R147L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					CTCCTACGATCGGACTCTGGT	0.522													25	111					0	0	0.003954	0	0	T	57989740	C	T	57989740	3	4	133	1	0	0	0	0	1	0	0	0	11938	875	31	2	453	2	PIP4K2C	12	57989740	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	50106347	57989740	75862155	46	6081											
C12orf12	196477	broad.mit.edu	37	chr12	91347670	91347670	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atactcctcctcatcatcatTtttcttctcctcctcttctt	5	20	0	16	0	7	0	3	0	4	0	11	0	10	0	4	0	1	0	4	0	1	6			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr12:91347670T>C	uc001tbj.3	-	0	1284	c.850A>G	c.(850-852)Aat>Gat	p.N284D		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	284	Glu-rich.									NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						tcatcatcatttttcttctcc	0.517													7	308					0	0	0.00308	0	0	C	91347670	T	C	91347670	3	2	133	1	0	0	0	0	1	0	0	0	1676	1841	64	3	374	3	C12orf12	12	91347670	Missense_Mutation	SNP	T	TCGA-FG-6688-01A-11D-1893-08	33357930	91347670	42504225	47	6082											
UTP20	27340	broad.mit.edu	37	chr12	101750464	101750464	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaagttatggaagctaatCtgccaaggtatgttttttaa	14	14	9	4	0	1	1	0	0	1	1	1	2	1	2	1	2	2	4	1	2	8	6			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr12:101750464C>G	uc001tia.1	+	41	5683	c.5527C>G	c.(5527-5529)Ctg>Gtg	p.L1843V		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	1843					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GGAAGCTAATCTGCCAAGGTA	0.363													3	26					0	0	0.000248	0	0	G	101750464	C	G	101750464	3	3	133	1	0	0	0	0	1	0	0	0	17096	912	32	5	5693	5	UTP20	12	101750464	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	10402794	101750464	32101431	48	6083											
ACACB	32	broad.mit.edu	37	chr12	109625810	109625810	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtccggactccagggttttAagccgagctccgggactgtc	6	10	13	12	3	0	0	0	0	0	0	4	3	3	2	4	3	2	2	4	3	1	2			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr12:109625810A>G	uc001tob.3	+	12	2106	c.1987A>G	c.(1987-1989)Aag>Gag	p.K663E	ACACB_uc001toc.3_Missense_Mutation_p.K663E	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	663	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CCAGGGTTTTAAGCCGAGCTC	0.498													3	82					0	0	0.004672	0	0	G	109625810	A	G	109625810	3	3	133	1	0	0	0	0	1	0	0	0	107	363	13	3	2033	3	ACACB	12	109625810	Missense_Mutation	SNP	A	TCGA-FG-6688-01A-11D-1893-08	7875346	109625810	24226085	49	6084											
CRYL1	51084	broad.mit.edu	37	chr13	21013857	21013859	+	In_Frame_Del	DEL	TCT	TCT	-																															ggaatctaactgagcaaaaaTcttcttcttcagttctagat																										TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr13:21013857_21013859delTCT	uc001une.3	-	3	390_392	c.311_313delAGA	c.(310-315)aagatt>att	p.K104del	CRYL1_uc001unf.3_In_Frame_Del_p.K82del|CRYL1_uc001ung.3_In_Frame_Del_p.K82del|CRYL1_uc010tcp.1_5'UTR	NM_015974	NP_057058	Q9Y2S2	CRYL1_HUMAN	Homo sapiens crystallin, lambda 1 (CRYL1), mRNA.	104					fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		TGAGCAAAAATCTTCTTCTTCAG	0.419													12	67	---	---	---	---						-	21013859	TCT	-	21013857	7	5	133	1	0	1	0	1	0	0	0	0	3920	1435	50	0	666	0	CRYL1	13	21013857	In_Frame_Del	DEL	TCT	TCGA-FG-6688-01A-11D-1893-08		21013857	94156021	50	6085											
CENPJ	55835	broad.mit.edu	37	chr13	25479612	25479612	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taggaggacttctgctcctcCtggacttgctcaagtcttct	6	14	9	12	0	4	0	1	0	3	0	6	3	6	3	2	3	2	2	2	3	2	4			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr13:25479612C>G	uc001upt.4	-	6	2817	c.2564G>C	c.(2563-2565)aGg>aCg	p.R855T	CENPJ_uc010tdf.2_Non-coding_Transcript|CENPJ_uc010aaf.3_Non-coding_Transcript|CENPJ_uc001upu.3_5'Flank	NM_018451	NP_060921	Q9HC77	CENPJ_HUMAN	Homo sapiens centromere protein J (CENPJ), mRNA.	855					G2/M transition of mitotic cell cycle|cell division|centriole replication|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TCTGCTCCTCCTGGACTTGCT	0.428													11	67					0	0	0.008291	0	0	G	25479612	C	G	25479612	3	3	133	1	0	0	0	0	1	0	0	0	3234	681	24	5	1496	5	CENPJ	13	25479612	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	4465755	25479612	89690266	51	6086											
RB1	5925	broad.mit.edu	37	chr13	48955530	48955533	+	Frame_Shift_Del	DEL	ATTT	ATTT	-																															gacaagagaaatgataaaacAtttagaacgatgtgaacatc																										TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr13:48955530_48955533delATTT	uc001vcb.3	+	16	1812_1815	c.1646_1649delATTT	c.(1645-1650)catttafs	p.H549fs		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	549	Domain A.|Pocket; binds T and E1A.		H -> Y (in RB).		G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATGATAAAACATTTAGAACGATGT	0.328		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			9	36	---	---	---	---						-	48955533	ATTT	-	48955530	7	5	133	1	0	1	0	1	0	0	0	0	13098	217	8	0	1712	0	RB1	13	48955530	Frame_Shift_Del	DEL	ATTT	TCGA-FG-6688-01A-11D-1893-08	23475918	48955530	66214348	52	6087											
CLEC14A	161198	broad.mit.edu	37	chr14	38724284	38724284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgattggccatgttctctgcGgcacggggctggttgcagtg	4	12	16	9	2	1	1	0	1	1	0	2	1	1	1	1	5	2	5	1	5	0	3			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr14:38724284G>A	uc001wum.1	-	0	1291	c.944C>T	c.(943-945)cCg>cTg	p.P315L		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	315						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TGTTCTCTGCGGCACGGGGCT	0.617													21	123					0	0	0.00278	0	0	A	38724284	G	A	38724284	3	1	133	1	0	0	0	0	1	0	0	0	3499	1116	39	2	532	2	CLEC14A	14	38724284	Missense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08		38724284	68625256	53	6088											
LRFN5	145581	broad.mit.edu	37	chr14	42355895	42355895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctcagatctgtccaaagCgttgtgtctgtcagattttg	9	14	10	8	1	4	2	2	0	2	2	5	2	5	2	1	0	2	2	1	0	2	3			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr14:42355895C>T	uc001wvm.3	+	2	1265	c.67C>T	c.(67-69)Cgt>Tgt	p.R23C	LRFN5_uc010ana.3_Missense_Mutation_p.R23C	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	23	LRRNT.					integral to membrane		p.R23H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTGTCCAAAGCGTTGTGTCTG	0.398										HNSCC(30;0.082)			5	35					0	0	0.001168	0	0	T	42355895	C	T	42355895	3	4	133	1	0	0	0	0	1	0	0	0	8941	768	27	1	69	1	LRFN5	14	42355895	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	3631611	42355895	64993645	54	6089											
RTN1	6252	broad.mit.edu	37	chr14	60212786	60212786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttattcttaaagtccaagtCtttatcttccagctcggggt	8	17	7	9	1	3	0	0	0	3	0	6	0	5	0	2	2	1	1	2	2	5	7			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr14:60212786C>T	uc001xen.1	-	1	864	c.655G>A	c.(655-657)Gac>Aac	p.D219N		NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	219					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		AAGTCCAAGTCTTTATCTTCC	0.448													44	218					0	0	0.002222	0	0	T	60212786	C	T	60212786	3	4	133	1	0	0	0	0	1	0	0	0	13725	913	32	3	1772	3	RTN1	14	60212786	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	17856891	60212786	47136754	55	6090											
ZNF770	54989	broad.mit.edu	37	chr15	35274299	35274299	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tattaaagaattcctcacctGatgaaccacagattgacaag	16	10	6	9	0	1	5	1	3	0	2	2	5	2	5	3	0	1	0	3	0	6	4			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr15:35274299G>C	uc001ziw.3	-	2	1691	c.1337C>G	c.(1336-1338)tCa>tGa	p.S446*	ZNF770_uc021siy.1_Nonsense_Mutation_p.S446*	NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	Homo sapiens zinc finger protein 770 (ZNF770), mRNA.	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TTCCTCACCTGATGAACCACA	0.343													12	67					0	0	0.001368	0	0	C	35274299	G	C	35274299	4	2	133	1	0	0	0	0	0	1	0	0	18140	1294	45	5	742	5	ZNF770	15	35274299	Nonsense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08		35274299	67257093	56	6091											
DUOX2	50506	broad.mit.edu	37	chr15	45389890	45389890	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggcggaagtggtgggaggcGaagacatacatgatggccag	11	5	18	7	3	0	2	0	1	0	1	0	5	0	4	1	6	1	0	1	6	3	1			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr15:45389890G>A	uc001zun.3	-	27	3818	c.3615C>T	c.(3613-3615)ttC>ttT	p.F1205F	DUOX2_uc010bea.3_Silent_p.F1205F	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1205	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GGTGGGAGGCGAAGACATACA	0.617													28	83					0	0	0.007291	0	0	A	45389890	G	A	45389890	2	1	133	1	0	0	0	0	0	0	0	1	4801	1049	37	2		2	DUOX2	15	45389890	Silent	SNP	G	TCGA-FG-6688-01A-11D-1893-08	10115591	45389890	57141502	57	6092											
SLC28A1	9154	broad.mit.edu	37	chr15	85467219	85467219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctttcctgtttgcagaccGaggctccattactgatccgg	7	13	9	12	2	1	2	0	1	1	1	4	3	4	2	4	2	2	3	4	2	1	3	rs150926643		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr15:85467219G>A	uc002blg.3	+	11	1163	c.961G>A	c.(961-963)Gag>Aag	p.E321K	SLC28A1_uc010upd.1_Missense_Mutation_p.E243K|SLC28A1_uc010bnb.3_Missense_Mutation_p.E321K|SLC28A1_uc010upe.2_Missense_Mutation_p.E321K|SLC28A1_uc010upf.1_Missense_Mutation_p.E321K|SLC28A1_uc010upg.1_Missense_Mutation_p.E321K	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	321					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	p.E321K(2)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TTTGCAGACCGAGGCTCCATT	0.567													9	57					0	0	0.004482	0	0	A	85467219	G	A	85467219	3	1	133	1	0	0	0	0	1	0	0	0	14531	1059	37	2	1070	2	SLC28A1	15	85467219	Missense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08	40077329	85467219	17064173	58	6093											
MCTP2	55784	broad.mit.edu	37	chr15	94943169	94943169	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaaagcaagtattaggaCttttactccccgggaaaagc	13	9	11	8	1	0	1	0	1	0	0	1	3	1	3	2	3	3	2	2	3	7	4			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr15:94943169C>G	uc002btj.3	+	14	1975	c.1910C>G	c.(1909-1911)aCt>aGt	p.T637S	MCTP2_uc010boj.3_Missense_Mutation_p.T366S|MCTP2_uc010bok.3_Missense_Mutation_p.T637S|MCTP2_uc002btk.4_Missense_Mutation_p.T225S|MCTP2_uc002btl.3_Missense_Mutation_p.T225S	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	637					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AGTATTAGGACTTTTACTCCC	0.448													21	125					0	0	0.002299	0	0	G	94943169	C	G	94943169	3	3	133	1	0	0	0	0	1	0	0	0	9401	565	20	5	1968	5	MCTP2	15	94943169	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	9475950	94943169	7588223	59	6094											
SNX29	92017	broad.mit.edu	37	chr16	12571690	12571690	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagtgagggcctacaacttcCcacccaaaaaggccattgga	14	6	9	12	0	0	1	0	1	0	0	1	2	1	2	4	3	2	0	4	3	5	3			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr16:12571690C>G	uc002dby.4	+	18	2214	c.997C>G	c.(997-999)Cca>Gca	p.P333A		NM_032167	NP_115543	Q8TEQ0	SNX29_HUMAN	Homo sapiens sorting nexin 29 (SNX29), mRNA.	333	PX.				cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CTACAACTTCCCACCCAAAAA	0.438													6	36					0	0	0.001984	0	0	G	12571690	C	G	12571690	3	3	133	1	0	0	0	0	1	0	0	0	14898	623	22	5	1039	5	SNX29	16	12571690	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08		12571690	77783063	60	6095											
ACSM2A	123876	broad.mit.edu	37	chr16	20477031	20477031	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtggtggctggtgatcCtgggctgcattcgagcaggt	5	11	17	8	1	0	2	0	2	0	0	2	3	1	2	1	5	2	4	1	5	0	1			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr16:20477031C>T	uc010bwe.3	+	3	609	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Silent_p.L45L|ACSM2A_uc002dhf.4_Silent_p.L124L|ACSM2A_uc002dhg.4_Silent_p.L124L|ACSM2A_uc010vay.2_Silent_p.L45L	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	124					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCTGGTGATCCTGGGCTGCAT	0.582													5	45					0	0	0.001168	0	0	T	20477031	C	T	20477031	2	4	133	1	0	0	0	0	0	0	0	1	183	680	24	3		3	ACSM2A	16	20477031	Silent	SNP	C	TCGA-FG-6688-01A-11D-1893-08	7905341	20477031	69877722	61	6096											
ADCY7	113	broad.mit.edu	37	chr16	50347883	50347883	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagctcctactgaagccCaagttcagcggcgtggagaa	10	7	12	12	2	1	2	1	1	0	1	2	3	2	2	2	2	5	3	2	2	4	2			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr16:50347883C>G	uc002egd.1	+	21	3034	c.2766C>G	c.(2764-2766)ccC>ccG	p.P922P		NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	922	Guanylate cyclase 2.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TACTGAAGCCCAAGTTCAGCG	0.617													14	73					0	0	0.00245	0	0	G	50347883	C	G	50347883	2	3	133	1	0	0	0	0	0	0	0	1	299	581	21	5		5	ADCY7	16	50347883	Silent	SNP	C	TCGA-FG-6688-01A-11D-1893-08	29870852	50347883	40006870	62	6097											
IRX6	79190	broad.mit.edu	37	chr16	55361633	55361633	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagaagatcatgctggcCatcatcaccaagatgaccct	12	8	10	11	0	3	4	3	2	0	3	3	5	3	4	3	2	1	1	3	2	2	0			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr16:55361633C>G	uc002ehy.3	+	3	1082	c.549C>G	c.(547-549)gcC>gcG	p.A183A	IRX6_uc002ehx.3_Silent_p.A183A|IRX6_uc010ccb.1_Non-coding_Transcript	NM_024335	NP_077311	P78412	IRX6_HUMAN	Homo sapiens iroquois homeobox 6 (IRX6), mRNA.	183						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						TCATGCTGGCCATCATCACCA	0.572													21	103					0	0	0.001523	0	0	G	55361633	C	G	55361633	2	3	133	1	0	0	0	0	0	0	0	1	7848	581	21	5		5	IRX6	16	55361633	Silent	SNP	C	TCGA-FG-6688-01A-11D-1893-08	5013750	55361633	34993120	63	6098											
HYDIN	54768	broad.mit.edu	37	chr16	70902514	70902514	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaggcatgtttctgggtaCgtccacccacttgactgtgt	6	12	10	13	1	1	1	0	1	1	0	2	1	2	1	3	2	1	3	3	2	1	3			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr16:70902514C>T	uc002ezr.3	-	65	11417	c.11266G>A	c.(11266-11268)Gta>Ata	p.V3756I	HYDIN_uc010cfy.3_5'Flank	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3757										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTCTGGGTACGTCCACCCAC	0.527													5	42					0	0	0.001984	0	0	T	70902514	C	T	70902514	3	4	133	1	0	0	0	0	1	0	0	0	7467	536	19	1	4180	1	HYDIN	16	70902514	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	15540881	70902514	19452239	64	6099											
ZNF276	92822	broad.mit.edu	37	chr16	89804475	89804475	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactgagctggactttgccTgtgaccagtgtggccggcgg	6	9	16	10	2	0	3	0	2	0	1	0	4	0	4	3	4	2	1	3	4	0	1			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr16:89804475T>A	uc002fos.4	+	10	1763	c.1666T>A	c.(1666-1668)Tgt>Agt	p.C556S	ZNF276_uc010ciq.3_Missense_Mutation_p.C342S|ZNF276_uc002foq.4_Missense_Mutation_p.C481S|ZNF276_uc010cir.3_Non-coding_Transcript|ZNF276_uc002for.4_Missense_Mutation_p.C342S|ZNF276_uc010cis.3_Missense_Mutation_p.C315S|ZNF276_uc002fot.4_Non-coding_Transcript|ZNF276_uc010vpm.2_Missense_Mutation_p.C394S|ZNF276_uc010cit.2_3'UTR|FANCA_uc002fou.1_3'UTR|FANCA_uc010vpn.1_3'UTR	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN	Homo sapiens zinc finger protein 276 (ZNF276), transcript variant a, mRNA.	556					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GGACTTTGCCTGTGACCAGTG	0.597													11	44					0	0	0.008291	0	0	A	89804475	T	A	89804475	3	1	133	1	0	0	0	0	1	0	0	0	17808	1580	55	5	1708	5	ZNF276	16	89804475	Missense_Mutation	SNP	T	TCGA-FG-6688-01A-11D-1893-08	18901961	89804475	550278	65	6100											
USP6	9098	broad.mit.edu	37	chr17	5072170	5072170	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtgcttttttggtaccaCgagacccggccctctgccag	6	10	11	14	3	1	1	0	0	1	1	1	3	1	1	4	2	3	2	4	2	1	4			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr17:5072170C>T	uc002gau.1	+	34	5567	c.3337C>T	c.(3337-3339)Cga>Tga	p.R1113*	USP6_uc002gav.1_Nonsense_Mutation_p.R1113*|USP6_uc010ckz.1_Nonsense_Mutation_p.R796*	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	1113					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	Rab GTPase activator activity|calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTTGGTACCACGAGACCCGGC	0.473			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								43	211					0	0	0.002852	0	0	T	5072170	C	T	5072170	4	4	133	1	0	0	0	0	0	1	0	0	17083	528	19	1	3439	1	USP6	17	5072170	Nonsense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08		5072170	76123040	66	6101											
DLG4	1742	broad.mit.edu	37	chr17	7106755	7106755	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttactacctttaggcccctTgatgagcttgatctccatga	8	14	8	11	0	1	4	0	4	1	0	2	4	1	4	4	1	3	2	4	1	3	6			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr17:7106755T>G	uc010vtn.2	-	4	573	c.313A>C	c.(313-315)Aag>Cag	p.K105Q	DLG4_uc010vtm.2_Non-coding_Transcript|DLG4_uc010cly.3_Missense_Mutation_p.K162Q|DLG4_uc002get.4_Missense_Mutation_p.K208Q|DLG4_uc010vto.2_Missense_Mutation_p.K205Q|DLG4_uc002geu.3_Missense_Mutation_p.K162Q	NM_001128827	NP_001122299	P78352	DLG4_HUMAN	Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 2, mRNA.	165	PDZ 1.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein C-terminus binding|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						TTAGGCCCCTTGATGAGCTTG	0.607													3	76					0	0	0.004672	0	0	G	7106755	T	G	7106755	3	3	133	1	0	0	0	0	1	0	0	0	4557	1821	63	5	1741	5	DLG4	17	7106755	Missense_Mutation	SNP	T	TCGA-FG-6688-01A-11D-1893-08	2034585	7106755	74088455	67	6102											
YBX2	51087	broad.mit.edu	37	chr17	7193769	7193769	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggaggccgggggatgaatCggcgggacttacgtcggttg	7	7	20	7	5	0	1	0	1	0	0	2	4	0	4	1	7	1	1	1	7	2	2			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr17:7193769C>T	uc002gfq.2	-	4	602	c.545G>A	c.(544-546)cGa>cAa	p.R182Q		NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN	Homo sapiens Y box binding protein 2 (YBX2), mRNA.	182					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GGGGATGAATCGGCGGGACTT	0.642													4	81					0	0	0.000602	0	0	T	7193769	C	T	7193769	3	4	133	1	0	0	0	0	1	0	0	0	17467	884	31	2	565	2	YBX2	17	7193769	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	87014	7193769	74001441	68	6103											
NF1	4763	broad.mit.edu	37	chr17	29553568	29553568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cactgaagctgttctggttgCcatgtcctgtttccgccacc	5	13	9	14	1	1	1	0	1	1	0	3	1	3	1	5	1	2	4	5	1	1	3			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr17:29553568C>T	uc002hgg.3	+	17	2500	c.2117C>T	c.(2116-2118)gCc>gTc	p.A706V	NF1_uc002hgh.3_Missense_Mutation_p.A706V|NF1_uc010csn.2_Missense_Mutation_p.A566V|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	706					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTTCTGGTTGCCATGTCCTGT	0.527			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			6	161					0	0	0.000978	0	0	T	29553568	C	T	29553568	3	4	133	1	0	0	0	0	1	0	0	0	10356	739	26	3	2248	3	NF1	17	29553568	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	22359799	29553568	51641642	69	6104											
MYO1D	4642	broad.mit.edu	37	chr17	31107759	31107759	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgtaagggttcacagaaaCgacgacttctccaatgaacg	13	9	9	10	3	2	2	1	1	1	1	3	4	2	2	1	1	2	2	1	1	4	4			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr17:31107759C>T	uc002hho.1	-	1	151	c.139G>A	c.(139-141)Gtt>Att	p.V47I	MYO1D_uc002hhp.1_Missense_Mutation_p.V47I|MYO1D_uc010wcb.2_Missense_Mutation_p.V47I	NM_015194	NP_056009	O94832	MYO1D_HUMAN	Homo sapiens myosin ID (MYO1D), mRNA.	47	Myosin head-like.					myosin complex	ATP binding|actin binding|calmodulin binding	p.V46I(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TTCACAGAAACGACGACTTCT	0.423													10	50					0	0	0.008291	0	0	T	31107759	C	T	31107759	3	4	133	1	0	0	0	0	1	0	0	0	10071	536	19	1	2965	1	MYO1D	17	31107759	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	1554191	31107759	50087451	70	6105											
CUEDC1	404093	broad.mit.edu	37	chr17	55946527	55946527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctgaataaggcatcttcaGacacagcggggttggcgtcg	9	8	13	11	3	2	2	1	1	1	1	3	2	2	2	1	4	1	2	1	4	2	3			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr17:55946527G>A	uc002ivd.1	-	6	1615	c.896C>T	c.(895-897)tCt>tTt	p.S299F	CUEDC1_uc002ive.1_Missense_Mutation_p.S299F	NM_017949	NP_060419	Q9NWM3	CUED1_HUMAN	Homo sapiens CUE domain containing 1 (CUEDC1), mRNA.	299										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						GGCATCTTCAGACACAGCGGG	0.617													6	30					0	0	0.001984	0	0	A	55946527	G	A	55946527	3	1	133	1	0	0	0	0	1	0	0	0	4052	942	33	3	280	3	CUEDC1	17	55946527	Missense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08	24838768	55946527	25248683	71	6106											
CYP4F3	4051	broad.mit.edu	37	chr19	15763404	15763404	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgggaagaagttgtccgAtgaggacataagagcagaag	16	6	15	4	1	0	5	0	1	0	4	1	8	1	7	1	2	1	2	1	2	4	2			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr19:15763404A>T	uc010xok.2	+	7	994	c.944A>T	c.(943-945)gAt>gTt	p.D315V	CYP4F3_uc010xol.2_Missense_Mutation_p.D315V|CYP4F3_uc002nbj.3_Missense_Mutation_p.D315V|CYP4F3_uc010xom.2_Missense_Mutation_p.D166V|CYP4F3_uc002nbk.3_Missense_Mutation_p.D315V|CYP4F3_uc010xon.2_Missense_Mutation_p.D25V	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	315					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						AAGTTGTCCGATGAGGACATA	0.522													9	260					0	0	0.008291	0	0	T	15763404	A	T	15763404	3	4	133	1	0	0	0	0	1	0	0	0	4190	333	12	5	970	5	CYP4F3	19	15763404	Missense_Mutation	SNP	A	TCGA-FG-6688-01A-11D-1893-08		15763404	43365579	72	6107											
TSHZ2	128553	broad.mit.edu	37	chr20	51872726	51872726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagtaccagcttaggaaaaCgggcgggacaaaatttctga	15	7	11	8	2	1	1	0	1	1	0	1	3	1	3	1	3	3	2	1	3	7	3			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr20:51872726C>T	uc002xwo.3	+	1	3616	c.2729C>T	c.(2728-2730)aCg>aTg	p.T910M	TSHZ2_uc021wex.1_Missense_Mutation_p.T907M	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	910					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTTAGGAAAACGGGCGGGACA	0.488													7	65					0	0	0.004482	0	0	T	51872726	C	T	51872726	3	4	133	1	0	0	0	0	1	0	0	0	16621	536	19	1	2735	1	TSHZ2	20	51872726	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08		51872726	11152794	73	6108											
GRPR	2925	broad.mit.edu	37	chrX	16168588	16168588	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggaaagcaccaaccagAccttcattagctgtgcccca	13	7	8	13	0	1	2	1	1	0	1	1	3	1	3	5	1	4	2	5	1	3	2			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:16168588A>G	uc004cxj.3	+	1	1227	c.574A>G	c.(574-576)Acc>Gcc	p.T192A		NM_005314	NP_005305	P30550	GRPR_HUMAN	Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA.	192					cell proliferation	integral to plasma membrane	bombesin receptor activity	p.T192T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CACCAACCAGACCTTCATTAG	0.502													35	141					0	0	0.00623	0	0	G	16168588	A	G	16168588	3	3	133	1	0	0	0	0	1	0	0	0	6808	275	10	3	580	3	GRPR	23	16168588	Missense_Mutation	SNP	A	TCGA-FG-6688-01A-11D-1893-08		16168588	139101972	74	6109											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29972757	29972757	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacctgatatgcttgaaaaGcattatggatataagttgtt	13	15	8	5	0	0	2	0	2	0	0	0	3	0	3	1	1	3	4	1	1	7	8			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:29972757G>T	uc004dby.2	+	9	1828	c.1320G>T	c.(1318-1320)aaG>aaT	p.K440N		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	440	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.K440K(2)|p.E439Q(2)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGCTTGAAAAGCATTATGGAT	0.373													14	74					0.00316338	0.00402612	0.003163	1	0	T	29972757	G	T	29972757	3	4	133	1	0	0	0	0	1	0	0	0	7661	962	34	5	1354	5	IL1RAPL1	23	29972757	Missense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08	13804169	29972757	125297803	75	6110											
TMEM47	83604	broad.mit.edu	37	chrX	34648526	34648526	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggccaggccataaccccaGttgaactcatggtaaatttt	12	10	8	11	0	1	1	1	1	0	0	1	1	1	1	4	3	2	2	4	3	4	5			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:34648526G>T	uc004ddh.3	-	2	709	c.450C>A	c.(448-450)aaC>aaA	p.N150K	TMEM47_uc010ngs.3_Non-coding_Transcript	NM_031442	NP_113630	Q9BQJ4	TMM47_HUMAN	Homo sapiens transmembrane protein 47 (TMEM47), mRNA.	150						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CATAACCCCAGTTGAACTCAT	0.428													21	115					3.62473e-10	4.91093e-10	0.001882	1	0	T	34648526	G	T	34648526	3	4	133	1	0	0	0	0	1	0	0	0	16168	1020	36	5	99	5	TMEM47	23	34648526	Missense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08	4675769	34648526	120622034	76	6111											
FAM47B	170062	broad.mit.edu	37	chrX	34962764	34962764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggctacagaatgcctggcGtcattgaaaagctgtttgcc	10	10	12	9	1	1	2	1	1	0	1	1	2	1	2	2	2	4	3	2	2	4	3			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:34962764G>A	uc004ddi.2	+	0	1852	c.1816G>A	c.(1816-1818)Gtc>Atc	p.V606I		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	606								p.V606I(2)		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						AATGCCTGGCGTCATTGAAAA	0.438													51	233					0	0	0.00361	0	0	A	34962764	G	A	34962764	3	1	133	1	0	0	0	0	1	0	0	0	5570	1145	40	1	1818	1	FAM47B	23	34962764	Missense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08	314238	34962764	120307796	77	6112											
MAGEE2	139599	broad.mit.edu	37	chrX	75003755	75003755	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggttgctggacaaggaggtAgatgtgctcactggtatcaa	10	11	14	6	0	2	1	2	0	0	1	2	3	2	3	0	5	2	5	0	5	4	3			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:75003755A>C	uc004ecj.2	-	0	1325	c.1132T>G	c.(1132-1134)Tac>Gac	p.Y378D		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	378	MAGE 2.							p.Y378_L379>*(1)|p.Y378*(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACAAGGAGGTAGATGTGCTCA	0.433													24	157					0	0	0.002299	0	0	C	75003755	A	C	75003755	3	2	133	1	0	0	0	0	1	0	0	0	9186	420	15	5	443	5	MAGEE2	23	75003755	Missense_Mutation	SNP	A	TCGA-FG-6688-01A-11D-1893-08	40040991	75003755	80266805	78	6113											
PLXNA3	55558	broad.mit.edu	37	chrX	153698493	153698493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccgagatctacctgacaCggctgctggccaccaaggta	9	8	10	14	2	2	2	0	1	2	1	3	3	2	2	4	3	2	3	4	3	3	2			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:153698493C>T	uc004flm.3	+	28	5142	c.4969C>T	c.(4969-4971)Cgg>Tgg	p.R1657W		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	1657					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTACCTGACACGGCTGCTGGC	0.617													9	48					0	0	0.006214	0	0	T	153698493	C	T	153698493	3	4	133	1	0	0	0	0	1	0	0	0	12121	527	19	1	5079	1	PLXNA3	23	153698493	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	78694738	153698493	1572067	79	6114											
F8	2157	broad.mit.edu	37	chrX	154159063	154159063	+	Frame_Shift_Del	DEL	G	G	-																															cattatctttagtcaacaaaGcaggtccatgagctcttttc																										TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:154159063delG	uc004fmt.3	-	13	3173	c.3002delC	c.(3001-3003)gctfs	p.A1001fs		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1001	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGTCAACAAAGCAGGTCCATG	0.343													26	135	---	---	---	---						-	154159063	G	-	154159063	7	5	133	1	0	1	0	1	0	0	0	0	5350	971	34	0	4133	0	F8	23	154159063	Frame_Shift_Del	DEL	G	TCGA-FG-6688-01A-11D-1893-08	460570	154159063	1111497	80	6115											
VAV3	10451	broad.mit.edu	37	chr1	108507542	108507544	+	Splice_Site	DEL	GCC	GCC	-																															gggcgggcggcaaggatgcgGccgccgccgccgccgccgcg																								rs71796067		TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr1:108507542_108507544delGCC	uc001dvk.1	-	1	1	c.-53_splice	c.e1-1		VAV3_uc010ouw.1_Splice_Site|VAV3_uc001dvl.1_5'Flank|VAV3_uc010oux.1_Splice_Site	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.						B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CAAGGATGCGgccgccgccgccg	0.773													4	9	---	---	---	---						-	108507544	GCC	-	108507542	8	5	134	1	0	1	0	1	0	0	1	0	17130	1218	42	0		0	VAV3	1	108507542	Splice_Site	DEL	GCC	TCGA-FG-6689-01A-11D-1893-08		108507542	140743079	1	6116											
ANTXR1	84168	broad.mit.edu	37	chr2	69329991	69329991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagtcatttcaagttgtcGtgagaggaaacggcttccga	11	10	12	8	3	2	2	2	1	0	2	4	5	3	3	1	2	1	2	1	2	2	3			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr2:69329991G>A	uc002sfg.3	+	9	1077	c.721G>A	c.(721-723)Gtg>Atg	p.V241M	ANTXR1_uc002sfe.3_Missense_Mutation_p.V241M|ANTXR1_uc002sff.3_Missense_Mutation_p.V241M|ANTXR1_uc002sfd.2_Missense_Mutation_p.V241M|MIR3126_uc021viv.1_5'Flank	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA.	241					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCAAGTTGTCGTGAGAGGAAA	0.473									Familial Infantile Hemangioma				25	359					0	0	0.00632	0	0	A	69329991	G	A	69329991	3	1	134	1	0	0	0	0	1	0	0	0	711	1145	40	1	759	1	ANTXR1	2	69329991	Missense_Mutation	SNP	G	TCGA-FG-6689-01A-11D-1893-08		69329991	173869382	2	6117											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								23	53					0	0	0.01892	0	0	T	209113112	C	T	209113112	3	4	134	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-6689-01A-11D-1893-08	139783121	209113112	34086261	3	6118											
ZNF827	152485	broad.mit.edu	37	chr4	146813423	146813423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggatttgagattgtccttgCgagcacaccggaatggacag	10	9	14	8	2	0	1	0	1	0	1	1	6	1	4	2	3	2	1	2	3	1	3			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr4:146813423C>T	uc003ikn.3	-	2	1286	c.1238G>A	c.(1237-1239)cGc>cAc	p.R413H	ZNF827_uc003ikm.3_Missense_Mutation_p.R413H|ZNF827_uc010iox.3_Missense_Mutation_p.R63H	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R413G(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ATTGTCCTTGCGAGCACACCG	0.512													25	82					0	0	0.00632	0	0	T	146813423	C	T	146813423	3	4	134	1	0	0	0	0	1	0	0	0	18177	768	27	1	2039	1	ZNF827	4	146813423	Missense_Mutation	SNP	C	TCGA-FG-6689-01A-11D-1893-08		146813423	44340853	4	6119											
SMAD5	4090	broad.mit.edu	37	chr5	135510116	135510116	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgcggaatgcctcagtgAcagcagcatatttgtacaga	12	10	11	8	1	1	2	1	1	0	1	1	3	1	3	1	1	5	4	1	1	4	4			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr5:135510116A>G	uc003lbj.1	+	7	1493	c.1049A>G	c.(1048-1050)gAc>gGc	p.D350G	SMAD5_uc003lbk.1_Missense_Mutation_p.D350G|SMAD5_uc003lbl.1_Missense_Mutation_p.D350G	NM_001001419	NP_001001419	Q99717	SMAD5_HUMAN	Homo sapiens SMAD family member 5 (SMAD5), transcript variant 2, mRNA.	350	MH2.				BMP signaling pathway|embryonic pattern specification|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCCTCAGTGACAGCAGCATA	0.418													6	137					0	0	0.001168	0	0	G	135510116	A	G	135510116	3	3	134	1	0	0	0	0	1	0	0	0	14761	275	10	3	1067	3	SMAD5	5	135510116	Missense_Mutation	SNP	A	TCGA-FG-6689-01A-11D-1893-08		135510116	45405144	5	6120											
TRIM7	81786	broad.mit.edu	37	chr5	180622600	180622600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcaggtcctgggcccgctCgccgaggcgcacgcccttaa	5	5	15	16	5	0	0	0	0	0	0	2	1	1	0	4	4	0	3	4	4	1	1			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr5:180622600C>T	uc003mmz.1	-	6	1169	c.1102G>A	c.(1102-1104)Gag>Aag	p.E368K	TRIM7_uc003mmv.1_Missense_Mutation_p.E186K|TRIM7_uc003mmw.1_Missense_Mutation_p.E160K|TRIM7_uc003mmy.1_Missense_Mutation_p.E160K|TRIM7_uc003mmx.1_Missense_Mutation_p.E160K	NM_203293	NP_976041	Q9C029	TRIM7_HUMAN	Homo sapiens tripartite motif containing 7 (TRIM7), transcript variant 1, mRNA.	368	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		TGGGCCCGCTCGCCGAGGCGC	0.667													20	76					0	0	0.008871	0	0	T	180622600	C	T	180622600	3	4	134	1	0	0	0	0	1	0	0	0	16540	893	31	2	437	2	TRIM7	5	180622600	Missense_Mutation	SNP	C	TCGA-FG-6689-01A-11D-1893-08	45112484	180622600	292660	6	6121											
OR2H2	7932	broad.mit.edu	37	chr6	29556539	29556539	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagaggggcaagttctttgGtctcttctatgcagtgggca	8	12	14	7	0	3	1	0	0	3	1	4	2	3	1	0	4	1	4	0	4	2	4			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr6:29556539G>C	uc003nmr.1	+	0	857	c.818G>C	c.(817-819)gGt>gCt	p.G273A	GABBR1_uc003nmp.4_Intron	NM_007160	NP_009091	O95918	OR2H2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 2 (OR2H2), mRNA.	273					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						AAGTTCTTTGGTCTCTTCTAT	0.512													4	75					0	0	0.009096	0	0	C	29556539	G	C	29556539	3	2	134	1	0	0	0	0	1	0	0	0	11002	1261	44	5	820	5	OR2H2	6	29556539	Missense_Mutation	SNP	G	TCGA-FG-6689-01A-11D-1893-08		29556539	141558528	7	6122											
MDC1	9656	broad.mit.edu	37	chr6	30679448	30679448	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacagaagtcctcaccttcCaggccctgattctccagaaa	12	8	6	15	0	2	3	1	1	1	2	5	3	4	3	5	1	0	0	5	1	2	2			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr6:30679448C>T	uc003nrg.4	-	5	2564	c.2124G>A	c.(2122-2124)ctG>ctA	p.L708L	MDC1_uc003nrf.4_Silent_p.L362L|MDC1_uc011dmp.1_Silent_p.L580L	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	708				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CCTCACCTTCCAGGCCCTGAT	0.468								Other conserved DNA damage response genes					6	131					0	0	0.004482	0	0	T	30679448	C	T	30679448	2	4	134	1	0	0	0	0	0	0	0	1	9403	581	21	3		3	MDC1	6	30679448	Silent	SNP	C	TCGA-FG-6689-01A-11D-1893-08	1122909	30679448	140435619	8	6123											
KATNA1	11104	broad.mit.edu	37	chr6	149959574	149959574	+	Frame_Shift_Del	DEL	T	T	-																															tgactgagtacagatacttgTtcatttggtcaagaactccc																										TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr6:149959574delT	uc003qmr.2	-	0	155	c.110delA	c.(109-111)aacfs	p.N37fs	KATNA1_uc003qms.3_Frame_Shift_Del_p.N37fs|KATNA1_uc003qmt.3_Frame_Shift_Del_p.N37fs|KATNA1_uc011eed.1_Frame_Shift_Del_p.N37fs	NM_007044	NP_008975	O75449	KTNA1_HUMAN	Homo sapiens katanin p60 (ATPase containing) subunit A 1 (KATNA1), transcript variant 1, mRNA.	37	Interaction with microtubule.				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		CAGATACTTGTTCATTTGGTC	0.403													78	197	---	---	---	---						-	149959574	T	-	149959574	7	5	134	1	0	1	0	1	0	0	0	0	7984	1725	60	0	1405	0	KATNA1	6	149959574	Frame_Shift_Del	DEL	T	TCGA-FG-6689-01A-11D-1893-08	119280126	149959574	21155493	9	6124											
MET	4233	broad.mit.edu	37	chr7	116397529	116397529	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgccatgaataagcattTcaatatgtccataattattt	13	16	4	8	0	1	1	1	1	0	0	3	1	3	1	3	0	2	1	3	0	6	6			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr7:116397529T>C	uc003vij.3	+	6	2088	c.1901T>C	c.(1900-1902)tTc>tCc	p.F634S	MET_uc022akk.1_Missense_Mutation_p.F634S|MET_uc010lkh.3_Missense_Mutation_p.F634S|MET_uc011knd.2_Missense_Mutation_p.F634S|MET_uc011knf.2_Missense_Mutation_p.F634S|MET_uc011kne.2_Missense_Mutation_p.F606S|MET_uc011kng.1_Missense_Mutation_p.F634S|MET_uc011knh.1_Missense_Mutation_p.F634S|MET_uc011kni.2_Missense_Mutation_p.F634S|MET_uc011knj.2_Missense_Mutation_p.F204S	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	634	IPT/TIG 1.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.F634L(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AATAAGCATTTCAATATGTCC	0.343			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				48	58					0	0	0.01441	0	0	C	116397529	T	C	116397529	3	2	134	1	0	0	0	0	1	0	0	0	9485	1783	62	3	1923	3	MET	7	116397529	Missense_Mutation	SNP	T	TCGA-FG-6689-01A-11D-1893-08		116397529	42741134	10	6125											
MLL3	58508	broad.mit.edu	37	chr7	151945175	151945175	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggtgttggggaggaagAcacatctgccttgcttatgt	10	11	14	6	0	1	2	0	0	1	2	1	4	1	4	1	4	2	2	1	4	3	3			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr7:151945175A>G	uc003wla.3	-	13	2563	c.2344T>C	c.(2344-2346)Tct>Cct	p.S782P		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	782					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GGGGAGGAAGACACATCTGCC	0.428			N		medulloblastoma								11	498					0	0	0.012319	0	0	G	151945175	A	G	151945175	3	3	134	1	0	0	0	0	1	0	0	0	9622	275	10	3	12575	3	MLL3	7	151945175	Missense_Mutation	SNP	A	TCGA-FG-6689-01A-11D-1893-08	35547646	151945175	7193488	11	6126											
SULF1	23213	broad.mit.edu	37	chr8	70513977	70513977	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttaccatattgggcagtttgGactggtcaaggggaaatcca	11	11	12	7	0	1	0	1	0	0	0	2	2	2	2	2	5	1	2	2	5	4	4			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr8:70513977G>C	uc003xyg.2	+	8	1535	c.974G>C	c.(973-975)gGa>gCa	p.G325A	SULF1_uc010lza.1_Missense_Mutation_p.G325A|SULF1_uc003xyd.2_Missense_Mutation_p.G325A|SULF1_uc003xye.2_Missense_Mutation_p.G325A|SULF1_uc003xyf.2_Missense_Mutation_p.G325A|SULF1_uc003xyh.1_Non-coding_Transcript	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	325					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GGGCAGTTTGGACTGGTCAAG	0.448													9	258					0	0	0.004482	0	0	C	70513977	G	C	70513977	3	2	134	1	0	0	0	0	1	0	0	0	15369	1174	41	5	996	5	SULF1	8	70513977	Missense_Mutation	SNP	G	TCGA-FG-6689-01A-11D-1893-08		70513977	75850045	12	6127											
CA1	759	broad.mit.edu	37	chr8	86244738	86244738	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggttttaattgcttggAgggcatcaagtactttctgc	7	16	10	8	0	2	0	1	0	1	0	2	1	2	1	1	3	3	4	1	3	3	7			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr8:86244738A>G	uc022axc.1	-	4	573	c.494T>C	c.(493-495)cTc>cCc	p.L165P	CA13_uc003ydf.1_Intron|CA1_uc003ydh.3_Missense_Mutation_p.L165P|CA1_uc022axd.1_Missense_Mutation_p.L165P|CA1_uc010mae.2_Missense_Mutation_p.L165P|CA1_uc003ydi.3_Missense_Mutation_p.L165P	NM_001164830	NP_001729	P00915	CAH1_HUMAN	Homo sapiens carbonic anhydrase I (CA1), transcript variant 5, mRNA.	165					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	AATTGCTTGGAGGGCATCAAG	0.328													28	31					0	0	0.017118	0	0	G	86244738	A	G	86244738	3	3	134	1	0	0	0	0	1	0	0	0	2510	304	11	4	303	4	CA1	8	86244738	Missense_Mutation	SNP	A	TCGA-FG-6689-01A-11D-1893-08	15730761	86244738	60119284	13	6128											
ACP2	53	broad.mit.edu	37	chr11	47264838	47264838	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgggaggtggtcgccattagGgtcaggttcttccttatctg	5	14	14	8	1	3	0	1	0	2	0	5	1	4	1	2	5	0	1	2	5	2	4			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr11:47264838G>A	uc001nei.3	-	7	924	c.807C>T	c.(805-807)acC>acT	p.T269T	ACP2_uc010rhe.2_Silent_p.T241T|ACP2_uc009ylj.3_Silent_p.T197T|ACP2_uc010rhf.2_Silent_p.T237T|ACP2_uc010rhg.2_Silent_p.T206T|ACP2_uc010rhh.2_Silent_p.T82T|ACP2_uc009ylk.2_Silent_p.T236T|ACP2_uc010rhi.1_Silent_p.T82T	NM_001610	NP_001601	P11117	PPAL_HUMAN	Homo sapiens acid phosphatase 2, lysosomal (ACP2), transcript variant 1, mRNA.	269						integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						TCGCCATTAGGGTCAGGTTCT	0.562													6	62					0	0	0.001984	0	0	A	47264838	G	A	47264838	2	1	134	1	0	0	0	0	0	0	0	1	163	1219	43	3		3	ACP2	11	47264838	Silent	SNP	G	TCGA-FG-6689-01A-11D-1893-08		47264838	87741678	14	6129											
DIXDC1	85458	broad.mit.edu	37	chr11	111865764	111865764	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaccaactacaacagtcacAactctcaaagcaatggtttt	15	9	5	12	1	2	0	2	0	1	0	3	1	2	0	1	1	5	2	1	1	6	3			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr11:111865764A>T	uc001pml.3	+	15	1753	c.1456A>T	c.(1456-1458)Aac>Tac	p.N486Y	DIXDC1_uc001pmm.3_Missense_Mutation_p.N275Y|DIXDC1_uc001pmn.3_Missense_Mutation_p.N193Y|DIXDC1_uc010rwq.2_Missense_Mutation_p.N152Y	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	Homo sapiens DIX domain containing 1 (DIXDC1), transcript variant 1, mRNA.	487					Wnt receptor signaling pathway|multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		CAACAGTCACAACTCTCAAAG	0.438													79	152					0	0	0.01441	0	0	T	111865764	A	T	111865764	3	4	134	1	0	0	0	0	1	0	0	0	4541	130	5	5	1543	5	DIXDC1	11	111865764	Missense_Mutation	SNP	A	TCGA-FG-6689-01A-11D-1893-08	64600926	111865764	23140752	15	6130											
KIF23	9493	broad.mit.edu	37	chr15	69714351	69714351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttctttttacatatggtGtgacgggaagtggaaaaact	11	14	11	5	1	2	1	0	1	2	0	2	3	2	3	0	3	2	0	0	3	5	5			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr15:69714351G>A	uc002asb.3	+	4	515	c.337G>A	c.(337-339)Gtg>Atg	p.V113M	KIF23_uc002asc.3_Missense_Mutation_p.V113M|KIF23_uc010bii.3_Intron|KIF23_uc010ukc.2_5'Flank|KIF23_uc010bih.2_Non-coding_Transcript	NM_138555	NP_612565	Q02241	KIF23_HUMAN	Homo sapiens kinesin family member 23 (KIF23), transcript variant 1, mRNA.	113	Kinesin-motor.				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TACATATGGTGTGACGGGAAG	0.408													6	51					0	0	0.001168	0	0	A	69714351	G	A	69714351	3	1	134	1	0	0	0	0	1	0	0	0	8291	1377	48	3	355	3	KIF23	15	69714351	Missense_Mutation	SNP	G	TCGA-FG-6689-01A-11D-1893-08		69714351	32817041	16	6131											
CTRL	1506	broad.mit.edu	37	chr16	67963919	67963919	+	Frame_Shift_Del	DEL	T	T	-																															caggtgcgcgcacattgcagTttttggtgccccaggagaca																										TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr16:67963919delT	uc002euw.3	-	6	736	c.713delA	c.(712-714)aacfs	p.N238fs		NM_001907	NP_001898	P40313	CTRL_HUMAN	Homo sapiens chymotrypsin-like (CTRL), mRNA.	238	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CACATTGCAGTTTTTGGTGCC	0.552													8	268	---	---	---	---						-	67963919	T	-	67963919	7	5	134	1	0	1	0	1	0	0	0	0	4028	1725	60	0	85	0	CTRL	16	67963919	Frame_Shift_Del	DEL	T	TCGA-FG-6689-01A-11D-1893-08		67963919	22390834	17	6132											
TP53	7157	broad.mit.edu	37	chr17	7579346	7579348	+	In_Frame_Del	DEL	AAG	AAG	-																															acttggctgtcccagaatgcAagaagcccagacggaaaccg																										TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr17:7579346_7579348delAAG	uc002gim.2	-	3	533_535	c.339_341delCTT	c.(337-342)ttcttg>ttg	p.F113del	TP53_uc002gig.1_In_Frame_Del_p.F113del|TP53_uc002gih.3_In_Frame_Del_p.F113del|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_In_Frame_Del_p.F113del|TP53_uc010cnh.1_In_Frame_Del_p.F113del|TP53_uc002gij.2_In_Frame_Del_p.F113del|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_In_Frame_Del_p.F74del|TP53_uc010cnk.1_In_Frame_Del_p.F128del	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	113	Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		F -> C (in sporadic cancers; somatic mutation).|F -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|F -> I (in a sporadic cancer; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.F113C(11)|p.0?(8)|p.F113L(6)|p.F113V(5)|p.F113S(4)|p.F113del(4)|p.L114*(4)|p.G59fs*23(3)|p.G112fs*9(2)|p.G105_T125del21(2)|p.G112_V122delGFLHSGTAKSV(2)|p.G112_S116delGFLHS(2)|p.G112S(1)|p.G112G(1)|p.G112D(1)|p.L114fs*30(1)|p.V73fs*9(1)|p.Y107fs*44(1)|p.S33fs*23(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.G112fs*36(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)		CCCAGAATGCAAGAAGCCCAGAC	0.601		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)			31	79	---	---	---	---						-	7579348	AAG	-	7579346	7	5	134	1	0	1	0	1	0	0	0	0	16378	131	5	0	961	0	TP53	17	7579346	In_Frame_Del	DEL	AAG	TCGA-FG-6689-01A-11D-1893-08		7579346	73615864	18	6133											
TP53	7157	broad.mit.edu	37	chr17	7579589	7579590	+	Splice_Site	INS	-	-	A																															tgcttgggacggcaagggggINSactgtagatgggtgaaaaga																										TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr17:7579589_7579590insA	uc002gim.2	-	4	291	c.97_splice	c.e4-1	p.S33_splice	TP53_uc002gig.1_Splice_Site_p.S33_splice|TP53_uc002gih.3_Splice_Site_p.S33_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Splice_Site_p.S33_splice|TP53_uc010cnh.1_Splice_Site_p.S33_splice|TP53_uc002gij.2_Splice_Site_p.S33_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Splice_Site|TP53_uc010cnk.1_Splice_Site_p.S48_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	33	Interaction with HRMT1L2.|Transcription activation (acidic).		S -> T (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.L35fs*10(3)|p.L35fs*9(2)|p.?(1)|p.S33fs*23(1)|p.S33fs*11(1)|p.S33fs*10(1)|p.S33T(1)|p.P13fs*18(1)|p.S33fs*6(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)		CGGCAAGGGGGACTGTAGATGG	0.594		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)			132	228	---	---	---	---						A	7579590	-	A	7579589	8	5	134	1	0	1	1	0	0	0	1	0	16378	1188	41	0	1204	0	TP53	17	7579589	Splice_Site	INS	-	TCGA-FG-6689-01A-11D-1893-08	243	7579589	73615621	19	6134											
SLC47A2	146802	broad.mit.edu	37	chr17	19606453	19606453	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttttcaggatgcttatcAgggtgcccaggaccagggaa	10	10	13	8	0	2	0	2	0	0	0	2	4	2	3	2	4	2	1	2	4	2	3			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr17:19606453A>G	uc002gwe.4	-	11	1329	c.1154T>C	c.(1153-1155)cTg>cCg	p.L385P	SLC47A2_uc002gwg.4_Missense_Mutation_p.L349P|SLC47A2_uc002gwf.4_Missense_Mutation_p.L363P|SLC47A2_uc002gwh.4_Intron|SLC47A2_uc002gwi.3_Intron|SLC47A2_uc010cqs.1_Non-coding_Transcript|SLC47A2_uc010cqt.1_Non-coding_Transcript	NM_152908	NP_690872	Q86VL8	S47A2_HUMAN	Homo sapiens solute carrier family 47, member 2 (SLC47A2), transcript variant 1, mRNA.	385						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					GATGCTTATCAGGGTGCCCAG	0.483													3	48					0	0	0.009096	0	0	G	19606453	A	G	19606453	3	3	134	1	0	0	0	0	1	0	0	0	14648	188	7	4	678	4	SLC47A2	17	19606453	Missense_Mutation	SNP	A	TCGA-FG-6689-01A-11D-1893-08	12026864	19606453	61588757	20	6135											
SGCA	6442	broad.mit.edu	37	chr17	48246530	48246530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcccccgatagccacgcccGctgtgcccagggccagcctc	6	5	10	20	3	0	0	0	0	0	0	2	1	1	0	7	1	3	1	7	1	1	1	rs138254713	by1000genomes	TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr17:48246530G>A	uc002iqi.3	+	5	698	c.662G>A	c.(661-663)cGc>cAc	p.R221H	SGCA_uc010wmh.1_Missense_Mutation_p.R119H|SGCA_uc002iqj.3_Intron|SGCA_uc010wmi.2_Non-coding_Transcript|BC126901_uc010dbn.1_5'Flank	NM_000023	NP_000014	Q16586	SGCA_HUMAN	Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA.	221					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						AGCCACGCCCGCTGTGCCCAG	0.577											OREG0024558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	45	55					0	0	0.010771	0	0	A	48246530	G	A	48246530	3	1	134	1	0	0	0	0	1	0	0	0	14199	1087	38	1	684	1	SGCA	17	48246530	Missense_Mutation	SNP	G	TCGA-FG-6689-01A-11D-1893-08	28640077	48246530	32948680	21	6136											
ANKRD30B	374860	broad.mit.edu	37	chr18	14843023	14843023	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttcttccaaacccgtttagCctgccactgaaatgcaaaac	12	11	5	13	1	1	1	0	1	1	0	2	1	2	1	4	0	5	2	4	0	5	4			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr18:14843023C>G	uc010dlo.2	+	33	2932	c.2752_splice	c.e33-1	p.P918_splice	ANKRD30B_uc021uhy.1_Splice_Site_p.P918_splice|ANKRD30B_uc010xal.1_Splice_Site_p.P60_splice	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	1003										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ACCCGTTTAGCCTGCCACTGA	0.289													3	21					0	0	0.004672	0	0	G	14843023	C	G	14843023	5	3	134	1	0	0	0	0	0	0	1	0	659	753	26	5	2882	5	ANKRD30B	18	14843023	Splice_Site	SNP	C	TCGA-FG-6689-01A-11D-1893-08		14843023	63234225	22	6137											
TSHZ1	10194	broad.mit.edu	37	chr18	72998072	72998072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagaacaacaagctctacgGctccgtcttcacgggcgcca	10	6	9	16	4	3	1	1	0	2	1	4	1	4	1	3	2	4	2	3	2	4	2			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr18:72998072G>A	uc002lly.3	+	1	1138	c.575G>A	c.(574-576)gGc>gAc	p.G192D	TSHZ1_uc021uln.1_Missense_Mutation_p.G192D	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	237	Ser-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AAGCTCTACGGCTCCGTCTTC	0.617													5	50					0	0	0.001984	0	0	A	72998072	G	A	72998072	3	1	134	1	0	0	0	0	1	0	0	0	16620	1203	42	3	577	3	TSHZ1	18	72998072	Missense_Mutation	SNP	G	TCGA-FG-6689-01A-11D-1893-08	58155049	72998072	5079176	23	6138											
S1PR5	53637	broad.mit.edu	37	chr19	10624526	10624526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgataccagagtccgggCggctgtgggtgcaccggggc	5	8	17	11	3	1	2	0	1	1	1	2	2	2	2	3	5	2	2	3	5	1	2			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr19:10624526C>T	uc021uox.1	-	0	1162	c.1162G>A	c.(1162-1164)Gcc>Acc	p.A388T	S1PR5_uc002mot.2_Missense_Mutation_p.A388T|S1PR5_uc002mou.2_Missense_Mutation_p.A388T	NM_030760	NP_110387	Q9H228	S1PR5_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 5 (S1PR5), transcript variant 1, mRNA.	388						integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						AGAGTCCGGGCGGCTGTGGGT	0.612													12	91					0	0	0.010729	0	0	T	10624526	C	T	10624526	3	4	134	1	0	0	0	0	1	0	0	0	13797	768	27	1	38	1	S1PR5	19	10624526	Missense_Mutation	SNP	C	TCGA-FG-6689-01A-11D-1893-08		10624526	48504457	24	6139											
PLCB1	23236	broad.mit.edu	37	chr20	8665706	8665706	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactatttcattaattcctcGcacaacacctacctcacagg	12	11	3	15	1	2	0	2	0	0	0	4	0	3	0	3	1	2	1	3	1	4	5			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr20:8665706G>A	uc002wnb.3	+	9	993	c.990G>A	c.(988-990)tcG>tcA	p.S330S	PLCB1_uc010zrb.1_Silent_p.S229S|PLCB1_uc002wna.3_Silent_p.S330S|PLCB1_uc002wnc.1_Silent_p.S229S	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	330	PI-PLC X-box.				CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TTAATTCCTCGCACAACACCT	0.418													12	156					0	0	0.016723	0	0	A	8665706	G	A	8665706	2	1	134	1	0	0	0	0	0	0	0	1	12027	1074	38	1		1	PLCB1	20	8665706	Silent	SNP	G	TCGA-FG-6689-01A-11D-1893-08		8665706	54359814	25	6140											
BPI	671	broad.mit.edu	37	chr20	36953197	36953197	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccaaaggagtccaaatttCgactgacaaccaagttcttt	13	12	6	10	1	1	1	0	1	1	0	4	3	3	2	3	1	1	1	3	1	4	4	rs150749170		TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr20:36953197C>T	uc002xib.2	+	8	1029	c.967C>T	c.(967-969)Cga>Tga	p.R323*		NM_001725	NP_001716	P17213	BPI_HUMAN	Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.	323					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				GTCCAAATTTCGACTGACAAC	0.512													6	103					0	0	0.001984	0	0	T	36953197	C	T	36953197	4	4	134	1	0	0	0	0	0	1	0	0	1490	876	31	2	1001	2	BPI	20	36953197	Nonsense_Mutation	SNP	C	TCGA-FG-6689-01A-11D-1893-08	28287491	36953197	26072323	26	6141											
C20orf20	55257	broad.mit.edu	37	chr20	61428541	61428541	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggcaggtcccatccaaggtCatctgggaccatctgagcac	9	7	11	14	1	3	1	1	1	2	0	5	2	5	2	3	4	1	2	3	4	1	0			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr20:61428541C>G	uc002ydi.3	+	1	299	c.228C>G	c.(226-228)gtC>gtG	p.V76V		NM_018270	NP_060740	Q9NV56	MRGBP_HUMAN	Homo sapiens chromosome 20 open reading frame 20 (C20orf20), mRNA.	76					chromatin modification|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	H4/H2A histone acetyltransferase complex				endometrium(1)|lung(5)|skin(2)|urinary_tract(3)	11	Breast(26;3.65e-08)					CATCCAAGGTCATCTGGGACC	0.632													23	43					0	0	0.014323	0	0	G	61428541	C	G	61428541	2	3	134	1	0	0	0	0	0	0	0	1	2103	813	29	5		5	C20orf20	20	61428541	Silent	SNP	C	TCGA-FG-6689-01A-11D-1893-08	24475344	61428541	1596979	27	6142											
ATRX	546	broad.mit.edu	37	chrX	76912104	76912104	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taacttcttcactaactcctGattcctgaaaatcagaatct	13	14	3	11	0	4	3	2	2	2	1	6	3	6	3	2	0	2	0	2	0	5	5			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chrX:76912104G>C	uc004ecp.4	-	12	4392	c.4160C>G	c.(4159-4161)tCa>tGa	p.S1387*	ATRX_uc004ecq.4_Nonsense_Mutation_p.S1349*|ATRX_uc004eco.4_Nonsense_Mutation_p.S1172*|ATRX_uc004ecr.2_Nonsense_Mutation_p.S1319*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1387					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ACTAACTCCTGATTCCTGAAA	0.284			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						23	14					0	0	0.021523	0	0	C	76912104	G	C	76912104	4	2	134	1	0	0	0	0	0	1	0	0	1208	1294	45	5	3410	5	ATRX	23	76912104	Nonsense_Mutation	SNP	G	TCGA-FG-6689-01A-11D-1893-08		76912104	78358456	28	6143											
ATAD3B	83858	broad.mit.edu	37	chr1	1431191	1431191	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccccccagggcaccccctGttgtaggcactggctaggga	6	7	13	15	0	0	0	0	0	0	0	0	1	0	1	5	4	1	5	5	4	2	3			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr1:1431191G>T	uc001afv.3	+	15	2042	c.1941G>T	c.(1939-1941)ctG>ctT	p.L647L	ATAD3B_uc021oeq.1_Intron|ATAD3B_uc001afx.3_Silent_p.L601L	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN	Homo sapiens ATPase family, AAA domain containing 3B (ATAD3B), nuclear gene encoding mitochondrial protein, mRNA.	647							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGCACCCCCTGTTGTAGGCAC	0.657													3	28					6.4e-05	6.89231e-05	0.115264	1	0	T	1431191	G	T	1431191	2	4	135	1	0	0	0	0	0	0	0	1	1074	1364	48	5		5	ATAD3B	1	1431191	Silent	SNP	G	TCGA-FG-6690-01A-11D-1893-08		1431191	247819430	1	6144											
PANK4	55229	broad.mit.edu	37	chr1	2440330	2440330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgacgctgaagagccGgccgcccagccgctcggcca	9	3	14	15	5	0	4	0	2	0	2	1	5	0	4	5	2	2	2	5	2	2	0			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr1:2440330G>A	uc001ajm.1	-	18	2287	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W	PANK4_uc010nza.1_Missense_Mutation_p.R721W	NM_018216	NP_060686	Q9NVE7	PANK4_HUMAN	Homo sapiens pantothenate kinase 4 (PANK4), mRNA.	760					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CTGAAGAGCCGGCCGCCCAGC	0.622													17	22					0	0	0.575678	0	0	A	2440330	G	A	2440330	3	1	135	1	0	0	0	0	1	0	0	0	11419	1115	39	2	47	2	PANK4	1	2440330	Missense_Mutation	SNP	G	TCGA-FG-6690-01A-11D-1893-08	1009139	2440330	246810291	2	6145											
SPEN	23013	broad.mit.edu	37	chr1	16242638	16242638	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacagaaacagaaagtgaaaAtgaatttcgccccttggatg	16	9	9	7	1	0	4	0	2	0	2	1	5	0	5	2	1	2	0	2	1	6	3			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr1:16242638A>G	uc001axk.1	+	5	1463	c.1259A>G	c.(1258-1260)aAt>aGt	p.N420S	SPEN_uc010obp.1_Missense_Mutation_p.N379S	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	420					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAAAGTGAAAATGAATTTCGC	0.348													4	69					0	0	0.150653	0	0	G	16242638	A	G	16242638	3	3	135	1	0	0	0	0	1	0	0	0	15037	101	4	3	1281	3	SPEN	1	16242638	Missense_Mutation	SNP	A	TCGA-FG-6690-01A-11D-1893-08	13802308	16242638	233007983	3	6146											
ZZZ3	26009	broad.mit.edu	37	chr1	78041829	78041829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcatccatatacactggcGgttcatgtgaagtcatgaaa	12	12	8	9	1	3	2	3	2	0	0	4	2	4	2	1	2	1	1	1	2	4	4			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr1:78041829G>A	uc001dhq.3	-	11	2731	c.2255C>T	c.(2254-2256)cCg>cTg	p.P752L	ZZZ3_uc001dhr.3_Missense_Mutation_p.P258L|ZZZ3_uc001dhp.3_Missense_Mutation_p.P751L	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	Homo sapiens zinc finger, ZZ-type containing 3 (ZZZ3), mRNA.	752					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						ATACACTGGCGGTTCATGTGA	0.378													38	62					0	0	0.804634	0	0	A	78041829	G	A	78041829	3	1	135	1	0	0	0	0	1	0	0	0	18253	1116	39	2	472	2	ZZZ3	1	78041829	Missense_Mutation	SNP	G	TCGA-FG-6690-01A-11D-1893-08	61799191	78041829	171208792	4	6147											
RBMXL1	494115	broad.mit.edu	37	chr1	89448635	89448635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtgtaagtggagcactaCgtgagttaccataactctca	11	11	9	10	2	1	1	1	1	1	0	3	2	1	2	1	1	4	3	1	1	4	4			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr1:89448635C>T	uc021opo.1	-	0	875	c.875G>A	c.(874-876)cGt>cAt	p.R292H	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc009wcx.3_Missense_Mutation_p.R292H|RBMXL1_uc001dms.3_Missense_Mutation_p.R292H	NM_019610	NP_062556	Q96E39	RBMXL_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 1 (RBMXL1), transcript variant 2, mRNA.	292	Ser-rich.						RNA binding|nucleotide binding										TGGAGCACTACGTGAGTTACC	0.483													18	273					0	0	0.557998	0	0	T	89448635	C	T	89448635	3	4	135	1	0	0	0	0	1	0	0	0	13153	536	19	1	301	1	RBMXL1	1	89448635	Missense_Mutation	SNP	C	TCGA-FG-6690-01A-11D-1893-08	11406806	89448635	159801986	5	6148											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								23	63					0	0	0.639603	0	0	T	209113112	C	T	209113112	3	4	135	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-6690-01A-11D-1893-08		209113112	34086261	6	6149											
FRYL	285527	broad.mit.edu	37	chr4	48517115	48517115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctttcagagctaaggtaaCatcctcttcacagactgact	11	12	6	12	0	4	3	2	1	2	2	5	3	5	3	1	1	2	2	1	1	2	4			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr4:48517115C>T	uc003gyh.1	-	55	8472	c.7867G>A	c.(7867-7869)Gtt>Att	p.V2623I	FRYL_uc003gyf.1_Missense_Mutation_p.V19I|FRYL_uc003gyg.1_Missense_Mutation_p.V1319I|FRYL_uc003gyi.1_Missense_Mutation_p.V1511I	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	2623					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GCTAAGGTAACATCCTCTTCA	0.423													8	132					0	0	0.27861	0	0	T	48517115	C	T	48517115	3	4	135	1	0	0	0	0	1	0	0	0	6064	478	17	3	1210	3	FRYL	4	48517115	Missense_Mutation	SNP	C	TCGA-FG-6690-01A-11D-1893-08		48517115	142637161	7	6150											
MSX2	4488	broad.mit.edu	37	chr5	174156254	174156254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catcccagctcctcgccctgGagcgcaagttccgtcagaaa	9	7	9	16	3	1	1	1	0	0	1	5	2	4	2	4	1	2	3	4	1	2	1			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr5:174156254G>A	uc003mcy.3	+	1	560	c.472G>A	c.(472-474)Gag>Aag	p.E158K		NM_002449	NP_002440	P35548	MSX2_HUMAN	Homo sapiens msh homeobox 2 (MSX2), mRNA.	158					cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCTCGCCCTGGAGCGCAAGTT	0.552													4	72					0	0	0.184627	0	0	A	174156254	G	A	174156254	3	1	135	1	0	0	0	0	1	0	0	0	9896	1175	41	3	478	3	MSX2	5	174156254	Missense_Mutation	SNP	G	TCGA-FG-6690-01A-11D-1893-08		174156254	6759006	8	6151											
MUC21	394263	broad.mit.edu	37	chr6	30954953	30954953	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacagccaccaactctgAgtccagcacgacctccagtg	11	5	8	17	1	1	1	0	1	1	0	3	2	3	1	5	0	4	2	5	0	1	0			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr6:30954953A>T	uc003nsh.2	+	1	1252	c.1001A>T	c.(1000-1002)gAg>gTg	p.E334V	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Missense_Mutation_p.E318V	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	334	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACCAACTCTGAGTCCAGCACG	0.622													15	411					0	0	0.500413	0	0	T	30954953	A	T	30954953	3	4	135	1	0	0	0	0	1	0	0	0	9977	304	11	5	1007	5	MUC21	6	30954953	Missense_Mutation	SNP	A	TCGA-FG-6690-01A-11D-1893-08		30954953	140160114	9	6152											
DNAH8	1769	broad.mit.edu	37	chr6	38976646	38976646	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattaccaacattcaacccaAagagagtggaggtggtgtgg	14	8	12	7	0	1	1	1	0	0	1	1	3	1	2	2	4	3	0	2	4	5	2			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr6:38976646A>G	uc021yzh.1	+	88	13380	c.13271A>G	c.(13270-13272)aAa>aGa	p.K4424R	DNAH8_uc003ooe.2_Missense_Mutation_p.K4207R	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATTCAACCCAAAGAGAGTGGA	0.423													86	145					0	0	0.870114	0	0	G	38976646	A	G	38976646	3	3	135	1	0	0	0	0	1	0	0	0	4607	14	1	3	12958	3	DNAH8	6	38976646	Missense_Mutation	SNP	A	TCGA-FG-6690-01A-11D-1893-08	8021693	38976646	132138421	10	6153											
PHF10	55274	broad.mit.edu	37	chr6	170112612	170112612	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggctgtgtttaatggcagaTaccgcagctcatctggtgag	8	11	14	8	1	2	2	1	1	1	1	2	2	2	2	1	3	2	5	1	3	2	3			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr6:170112612T>C	uc011egy.2	-	7	906	c.827A>G	c.(826-828)tAt>tGt	p.Y276C	PHF10_uc011egz.2_Missense_Mutation_p.Y274C|PHF10_uc011eha.1_Missense_Mutation_p.Y127C	NM_018288	NP_060758	Q8WUB8	PHF10_HUMAN	Homo sapiens PHD finger protein 10 (PHF10), transcript variant 1, mRNA.	276	SAY.				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		TAATGGCAGATACCGCAGCTC	0.438													8	109					0	0	0.335167	0	0	C	170112612	T	C	170112612	3	2	135	1	0	0	0	0	1	0	0	0	11821	1406	49	3	689	3	PHF10	6	170112612	Missense_Mutation	SNP	T	TCGA-FG-6690-01A-11D-1893-08	131135966	170112612	1002455	11	6154											
ZNF658	26149	broad.mit.edu	37	chr9	40774421	40774421	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgaactttattgtattcaAcagcggtggttttgtcacag	9	16	10	6	1	2	1	2	1	0	0	2	1	2	1	0	2	3	2	0	2	4	7			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr9:40774421A>G	uc004abs.2	-	4	1006	c.854T>C	c.(853-855)gTt>gCt	p.V285A	ZNF658_uc010mmm.2_Missense_Mutation_p.V285A|ZNF658_uc010mmn.1_Missense_Mutation_p.V285A	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	Homo sapiens zinc finger protein 658 (ZNF658), mRNA.	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A284T(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ATTGTATTCAACAGCGGTGGT	0.388													10	219					0	0	0.479597	0	0	G	40774421	A	G	40774421	3	3	135	1	0	0	0	0	1	0	0	0	18066	43	2	3	2329	3	ZNF658	9	40774421	Missense_Mutation	SNP	A	TCGA-FG-6690-01A-11D-1893-08		40774421	100439010	12	6155											
TNFSF15	9966	broad.mit.edu	37	chr9	117552881	117552881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaccagttgctacctacttCgcatacagacttggtcccca	10	10	7	14	1	0	1	0	0	0	1	2	2	1	1	4	1	5	3	4	1	4	6	rs150498686		TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr9:117552881C>T	uc004bjh.3	-	3	723	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	TNFSF15_uc004bjg.3_Missense_Mutation_p.E144K	NM_005118	NP_005109	O95150	TNF15_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 15 (TNFSF15), transcript variant 1, mRNA.	203					activation of NF-kappaB-inducing kinase activity|activation of caspase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						CTACCTACTTCGCATACAGAC	0.527													10	61					0	0	0.335167	0	0	T	117552881	C	T	117552881	3	4	135	1	0	0	0	0	1	0	0	0	16305	893	31	2	152	2	TNFSF15	9	117552881	Missense_Mutation	SNP	C	TCGA-FG-6690-01A-11D-1893-08	76778460	117552881	23660550	13	6156											
ZNF33B	7582	broad.mit.edu	37	chr10	43089129	43089129	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttagtgaggtcagatttctgGtaaaaagttttcccacatgc	11	14	9	7	0	2	2	1	1	1	1	3	2	3	2	1	2	1	2	1	2	4	5			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr10:43089129G>A	uc001jaf.1	-	4	1384	c.1269C>T	c.(1267-1269)taC>taT	p.Y423Y	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Silent_p.Y311Y|ZNF33B_uc001jad.3_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	Homo sapiens zinc finger protein 33B (ZNF33B), mRNA.	423						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						CAGATTTCTGGTAAAAAGTTT	0.418													6	121					0	0	0.217242	0	0	A	43089129	G	A	43089129	2	1	135	1	0	0	0	0	0	0	0	1	17852	1256	44	3		3	ZNF33B	10	43089129	Silent	SNP	G	TCGA-FG-6690-01A-11D-1893-08		43089129	92445618	14	6157											
ATAD1	84896	broad.mit.edu	37	chr10	89536119	89536119	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caatccatcccagagactcaTaaactgagctttcatcatgg	13	10	6	12	0	3	2	3	1	0	1	5	3	5	2	2	1	2	1	2	1	3	2			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr10:89536119T>G	uc001kez.1	-	5	1028	c.649A>C	c.(649-651)Atg>Ctg	p.M217L	ATAD1_uc010qmr.1_Missense_Mutation_p.M159L|ATAD1_uc009xth.1_Non-coding_Transcript|ATAD1_uc001key.1_Missense_Mutation_p.M217L	NM_032810	NP_116199	Q8NBU5	ATAD1_HUMAN	Homo sapiens ATPase family, AAA domain containing 1 (ATAD1), mRNA.	217						peroxisome	ATP binding|nucleoside-triphosphatase activity	p.F216I(1)		kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		CAGAGACTCATAAACTGAGCT	0.378													11	193					0	0	0.457914	0	0	G	89536119	T	G	89536119	3	3	135	1	0	0	0	0	1	0	0	0	1070	1406	49	5	456	5	ATAD1	10	89536119	Missense_Mutation	SNP	T	TCGA-FG-6690-01A-11D-1893-08	46446990	89536119	45998628	15	6158											
NPAT	4863	broad.mit.edu	37	chr11	108043929	108043929	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agacaagaattatcttggcaAtttgatagctgtgacataac	15	12	8	6	0	1	4	0	2	1	2	1	4	1	4	0	1	2	2	0	1	6	5			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr11:108043929A>G	uc001pjz.4	-	12	1884	c.1782T>C	c.(1780-1782)aaT>aaC	p.N594N	NPAT_uc001pka.3_Silent_p.N389N	NM_002519	NP_002510	Q14207	NPAT_HUMAN	Homo sapiens nuclear protein, ataxia-telangiectasia locus (NPAT), mRNA.	594					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TATCTTGGCAATTTGATAGCT	0.313													9	117					0	0	0.307466	0	0	G	108043929	A	G	108043929	2	3	135	1	0	0	0	0	0	0	0	1	10566	98	4	3		3	NPAT	11	108043929	Silent	SNP	A	TCGA-FG-6690-01A-11D-1893-08		108043929	26962587	16	6159											
NCAM1	4684	broad.mit.edu	37	chr11	113076288	113076288	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaaccccacaggagttccgGgagggggaagatgccgtgat	10	5	15	11	2	0	2	0	1	0	1	1	5	1	5	5	4	2	1	5	4	2	1			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr11:113076288G>A	uc021qqp.1	+	3	756	c.384G>A	c.(382-384)cgG>cgA	p.R128R	NCAM1_uc001pno.3_Silent_p.R12R|NCAM1_uc001pnp.3_Silent_p.R128R|NCAM1_uc021qqo.1_Silent_p.R128R|NCAM1_uc001pnq.3_Silent_p.R128R|NCAM1_uc001pnr.3_Silent_p.R128R	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	130	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGGAGTTCCGGGAGGGGGAAG	0.507													6	95					0	0	0.248553	0	0	A	113076288	G	A	113076288	2	1	135	1	0	0	0	0	0	0	0	1	10202	1219	43	3		3	NCAM1	11	113076288	Silent	SNP	G	TCGA-FG-6690-01A-11D-1893-08	5032359	113076288	21930228	17	6160											
SCN8A	6334	broad.mit.edu	37	chr12	52200839	52200839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccttcaccaagcgggtcctgGgagatagcggggagttggac	8	7	16	10	2	1	1	1	0	0	1	2	4	2	3	3	5	2	1	3	5	2	3			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr12:52200839G>A	uc001ryw.3	+	26	5747	c.5569G>A	c.(5569-5571)Gga>Aga	p.G1857R	SCN8A_uc010snl.2_Missense_Mutation_p.G1816R|hCG_1997999_uc001rzb.1_5'Flank	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1857					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GCGGGTCCTGGGAGATAGCGG	0.547													8	186					0	0	0.335167	0	0	A	52200839	G	A	52200839	3	1	135	1	0	0	0	0	1	0	0	0	13924	1233	43	3	5671	3	SCN8A	12	52200839	Missense_Mutation	SNP	G	TCGA-FG-6690-01A-11D-1893-08		52200839	81651056	18	6161											
KRT76	51350	broad.mit.edu	37	chr12	53169301	53169301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcaaaacaaggctccaggCtgctgggccctgagcctgtg	9	8	12	12	0	1	1	1	1	0	0	2	1	2	1	3	3	3	3	3	3	3	1			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr12:53169301C>T	uc001sax.3	-	1	740	c.686G>A	c.(685-687)aGc>aAc	p.S229N		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	229	Linker 1.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGGCTCCAGGCTGCTGGGCCC	0.557													75	99					0	0	0.870114	0	0	T	53169301	C	T	53169301	3	4	135	1	0	0	0	0	1	0	0	0	8489	797	28	3	1262	3	KRT76	12	53169301	Missense_Mutation	SNP	C	TCGA-FG-6690-01A-11D-1893-08	968462	53169301	80682594	19	6162											
CCNB1IP1	57820	broad.mit.edu	37	chr14	20779861	20779861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgaaaatctccatctccatCgccccgatttcgaacaggtg	10	10	7	14	3	2	1	0	1	2	0	6	3	2	1	4	1	1	0	4	1	3	1			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr14:20779861C>T	uc021rnp.1	-	6	1293	c.682G>A	c.(682-684)Gat>Aat	p.D228N	CCNB1IP1_uc001vwv.3_Missense_Mutation_p.D228N|CCNB1IP1_uc001vwx.3_Missense_Mutation_p.D228N|CCNB1IP1_uc001vwy.3_Missense_Mutation_p.D228N|CCNB1IP1_uc001vwz.3_Missense_Mutation_p.D228N	NM_182852	NP_878272	Q9NPC3	CIP1_HUMAN	Homo sapiens cyclin B1 interacting protein 1, E3 ubiquitin protein ligase (CCNB1IP1), transcript variant 4, mRNA.	228						chromosome|nucleus	ligase activity|metal ion binding|protein binding	p.D228N(2)	HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		CCATCTCCATCGCCCCGATTT	0.398			T	HMGA2	leiomyoma								8	101					0	0	0.307466	0	0	T	20779861	C	T	20779861	3	4	135	1	0	0	0	0	1	0	0	0	2912	884	31	2	155	2	CCNB1IP1	14	20779861	Missense_Mutation	SNP	C	TCGA-FG-6690-01A-11D-1893-08		20779861	86569679	20	6163											
REM2	161253	broad.mit.edu	37	chr14	23354069	23354069	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaggcctcatcctctggctCgtctgactccttgggctcag	4	12	10	15	1	5	1	3	1	2	0	8	1	7	1	3	3	0	2	3	3	0	1			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr14:23354069C>T	uc001whf.1	+	1	355	c.290C>T	c.(289-291)tCg>tTg	p.S97L	REM2_uc010tnd.1_Missense_Mutation_p.S89L	NM_173527	NP_775798	Q8IYK8	REM2_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP binding 2 (REM2), mRNA.	97					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		TCCTCTGGCTCGTCTGACTCC	0.612													11	82					0	0	0.435327	0	0	T	23354069	C	T	23354069	3	4	135	1	0	0	0	0	1	0	0	0	13223	893	31	2	296	2	REM2	14	23354069	Missense_Mutation	SNP	C	TCGA-FG-6690-01A-11D-1893-08	2574208	23354069	83995471	21	6164											
NID2	22795	broad.mit.edu	37	chr14	52520997	52520997	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccaacggggaagtgctgccGatatggaaagcccacactcc	11	6	11	13	2	0	0	0	0	0	0	2	3	2	2	4	3	4	1	4	3	4	1			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr14:52520997G>A	uc001wzo.3	-	3	1044	c.810C>T	c.(808-810)atC>atT	p.I270I	NID2_uc010tqs.2_Silent_p.I270I|NID2_uc010tqt.1_Silent_p.I270I|NID2_uc001wzp.3_Silent_p.I270I	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	270	NIDO.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					AAGTGCTGCCGATATGGAAAG	0.502													4	62					0	0	0.184627	0	0	A	52520997	G	A	52520997	2	1	135	1	0	0	0	0	0	0	0	1	10415	1048	37	2		2	NID2	14	52520997	Silent	SNP	G	TCGA-FG-6690-01A-11D-1893-08	29166928	52520997	54828543	22	6165											
CDC42BPB	9578	broad.mit.edu	37	chr14	103430859	103430859	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttccaaggtgaggttggcGtccttgaccttcctgagctc	5	13	11	12	1	0	3	0	3	0	0	4	3	3	3	4	3	1	2	4	3	1	4			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr14:103430859G>A	uc001ymi.1	-	18	2938	c.2706C>T	c.(2704-2706)gaC>gaT	p.D902D	CDC42BPB_uc001ymj.1_Silent_p.D30D	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	902					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TGAGGTTGGCGTCCTTGACCT	0.652													13	51					0	0	0.479597	0	0	A	103430859	G	A	103430859	2	1	135	1	0	0	0	0	0	0	0	1	3073	1136	40	1		1	CDC42BPB	14	103430859	Silent	SNP	G	TCGA-FG-6690-01A-11D-1893-08	50909862	103430859	3918681	23	6166											
NDN	4692	broad.mit.edu	37	chr15	23932264	23932264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctctgccagggtcgcggacGgaggaaccccctccgaaacc	8	4	13	16	4	1	0	0	0	1	0	3	4	2	3	5	4	3	1	5	4	2	0			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr15:23932264G>A	uc001ywk.3	-	0	187	c.101C>T	c.(100-102)cCg>cTg	p.P34L		NM_002487	NP_002478	Q99608	NECD_HUMAN	Homo sapiens necdin homolog (mouse) (NDN), mRNA.	34					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	p.P34P(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGTCGCGGACGGAGGAACCCC	0.692									Prader-Willi syndrome				6	26					0	0	0.248553	0	0	A	23932264	G	A	23932264	3	1	135	1	0	0	0	0	1	0	0	0	10247	1116	39	2	868	2	NDN	15	23932264	Missense_Mutation	SNP	G	TCGA-FG-6690-01A-11D-1893-08		23932264	78599128	24	6167											
ITGA11	22801	broad.mit.edu	37	chr15	68643096	68643096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaagtttctggattgatccCcctgcggttgtagtagccca	9	12	10	10	1	1	1	0	1	1	0	2	2	2	2	3	2	2	4	3	2	4	5			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr15:68643096C>T	uc010bib.3	-	8	1006	c.919G>A	c.(919-921)Ggg>Agg	p.G307R	ITGA11_uc002ari.3_Missense_Mutation_p.G307R	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	307	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GGATTGATCCCCCTGCGGTTG	0.502													26	75					0	0	0.693898	0	0	T	68643096	C	T	68643096	3	4	135	1	0	0	0	0	1	0	0	0	7874	623	22	3	2735	3	ITGA11	15	68643096	Missense_Mutation	SNP	C	TCGA-FG-6690-01A-11D-1893-08	44710832	68643096	33888296	25	6168											
ATXN2L	11273	broad.mit.edu	37	chr16	28846974	28846974	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctctctgccaccgggaccTtctgcccagtcccctcagag	5	8	8	20	1	3	1	1	0	2	1	5	2	4	2	7	1	2	0	7	1	0	1			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr16:28846974T>C	uc002dqy.3	+	20	2957	c.2790T>C	c.(2788-2790)ccT>ccC	p.P930P	NPIPL1_uc010vct.2_Intron|ATXN2L_uc002dqz.3_Silent_p.P930P|ATXN2L_uc002dra.3_Silent_p.P930P|ATXN2L_uc002drb.3_Silent_p.P930P|ATXN2L_uc002drc.3_Silent_p.P930P|ATXN2L_uc010vdb.2_Silent_p.P936P|ATXN2L_uc002dre.3_Silent_p.P930P|ATXN2L_uc002drf.3_Silent_p.P339P|ATXN2L_uc002drg.3_Silent_p.P213P	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	930						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CACCGGGACCTTCTGCCCAGT	0.662													8	69					0	0	0.335167	0	0	C	28846974	T	C	28846974	2	2	135	1	0	0	0	0	0	0	0	1	1212	1596	56	4		4	ATXN2L	16	28846974	Silent	SNP	T	TCGA-FG-6690-01A-11D-1893-08		28846974	61507779	26	6169											
TP53	7157	broad.mit.edu	37	chr17	7577568	7577568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcccatgcaggaactgttaCacatgtagttgtagtggatg	10	11	12	8	1	0	0	0	0	0	0	0	2	0	2	1	2	3	5	1	2	4	4			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr17:7577568C>T	uc002gim.2	-	6	907	c.713G>A	c.(712-714)tGt>tAt	p.C238Y	TP53_uc002gig.1_Missense_Mutation_p.C238Y|TP53_uc002gih.3_Missense_Mutation_p.C238Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C106Y|TP53_uc010cnf.1_Missense_Mutation_p.C106Y|TP53_uc002gii.1_Missense_Mutation_p.C106Y|TP53_uc010cni.1_Missense_Mutation_p.C238Y|TP53_uc010cnh.1_Missense_Mutation_p.C238Y|TP53_uc002gij.2_Missense_Mutation_p.C238Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C145Y|TP53_uc002gio.2_Missense_Mutation_p.C106Y|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	238	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C238Y(122)|p.M237I(109)|p.C238F(82)|p.C238S(28)|p.C238R(14)|p.M237K(9)|p.0?(8)|p.M237_N239delMCN(6)|p.M237V(6)|p.?(5)|p.C145Y(5)|p.C145F(5)|p.C238*(4)|p.M237fs*10(4)|p.C238del(3)|p.M237R(3)|p.M237L(3)|p.Y236_M243delYMCNSSCM(2)|p.C238_M246delCNSSCMGGM(2)|p.C238W(2)|p.C238fs*21(2)|p.C238G(2)|p.M237fs*1(2)|p.H233_C242del10(2)|p.M237T(2)|p.C238_N239insX(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.C238fs*9(1)|p.Y236_M237>*L(1)|p.M144_N146delMCN(1)|p.C238C(1)|p.Y236_M237delYM(1)|p.C145S(1)|p.H233fs*6(1)|p.Y236_M237insXX(1)|p.N239_C242del(1)|p.M237_C238insX(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)		GGAACTGTTACACATGTAGTT	0.572		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)			39	60					0	0	0.853193	0	0	T	7577568	C	T	7577568	3	4	135	1	0	0	0	0	1	0	0	0	16378	478	17	3	577	3	TP53	17	7577568	Missense_Mutation	SNP	C	TCGA-FG-6690-01A-11D-1893-08		7577568	73617642	27	6170											
TP53	7157	broad.mit.edu	37	chr17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcaaatttccttccactcGgataagatgctgaggagggg	11	9	12	9	2	0	2	0	1	0	1	3	4	2	4	2	4	1	2	2	4	2	3			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr17:7578263G>A	uc002gim.2	-	5	780	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.3_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.2_Nonsense_Mutation_p.R157*|DL476358_uc021tph.1_Non-coding_Transcript	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R196*(312)|p.I195T(67)|p.I195F(18)|p.R196P(14)|p.R64*(14)|p.R103*(14)|p.I195N(12)|p.R196fs*51(12)|p.R196R(8)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.I195S(6)|p.?(5)|p.P191_E198>Q(4)|p.I195fs*52(4)|p.I195fs*14(4)|p.R196Q(3)|p.I195fs*12(2)|p.I195fs*50(2)|p.I195_G199delIRVEG(2)|p.K164_P219del(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I195M(1)|p.R196L(1)|p.P98_E105>Q(1)|p.I195L(1)|p.H193_I195>AP(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)		CCTTCCACTCGGATAAGATGC	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	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)			24	31					0	0	0.681144	0	0	A	7578263	G	A	7578263	4	1	135	1	0	0	0	0	0	1	0	0	16378	1124	39	2	708	2	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-FG-6690-01A-11D-1893-08	695	7578263	73616947	28	6171											
MYH2	4620	broad.mit.edu	37	chr17	10451106	10451106	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtccctttgacaaaggattcTttgggctccgccacaaagac	10	10	9	12	1	1	2	0	1	1	1	3	3	3	3	3	2	0	1	3	2	2	3			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr17:10451106T>A	uc010coi.3	-	2	260	c.132A>T	c.(130-132)aaA>aaT	p.K44N	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.K44N|MYH2_uc010coj.3_Missense_Mutation_p.K44N	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	44	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAAAGGATTCTTTGGGCTCCG	0.537													81	112					0	0	0.870114	0	0	A	10451106	T	A	10451106	3	1	135	1	0	0	0	0	1	0	0	0	10035	1606	56	5	5845	5	MYH2	17	10451106	Missense_Mutation	SNP	T	TCGA-FG-6690-01A-11D-1893-08	2872843	10451106	70744104	29	6172											
BPTF	2186	broad.mit.edu	37	chr17	65899913	65899913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaattcttaggttacaccGgatgacatcaattgaaagag	15	11	9	6	1	2	4	1	3	1	1	2	5	2	5	1	2	1	1	1	2	5	4			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr17:65899913G>A	uc002jgf.3	+	7	2613	c.2552G>A	c.(2551-2553)cGg>cAg	p.R851Q	BPTF_uc002jge.3_Missense_Mutation_p.R977Q|BPTF_uc010wqm.1_Missense_Mutation_p.R914Q	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	977	Interaction with MAZ.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGGTTACACCGGATGACATCA	0.323													5	44					0	0	0.184627	0	0	A	65899913	G	A	65899913	3	1	135	1	0	0	0	0	1	0	0	0	1495	1116	39	2	2968	2	BPTF	17	65899913	Missense_Mutation	SNP	G	TCGA-FG-6690-01A-11D-1893-08	55448807	65899913	15295297	30	6173											
RIOK3	8780	broad.mit.edu	37	chr18	21057190	21057190	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagaacctacccaccctcaCggcctggagttcttgttccg	7	10	9	15	2	2	1	1	0	1	1	3	2	3	2	5	2	2	3	5	2	3	5	rs56187215		TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr18:21057190C>A	uc002kui.4	+	10	1919	c.1302C>A	c.(1300-1302)caC>caA	p.H434Q	RIOK3_uc010dls.3_Missense_Mutation_p.H434Q|RIOK3_uc010xas.2_Missense_Mutation_p.H418Q|RIOK3_uc010xat.2_Missense_Mutation_p.H178Q	NM_003831	NP_003822	O14730	RIOK3_HUMAN	Homo sapiens RIO kinase 3 (yeast) (RIOK3), mRNA.	434	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCCACCCTCACGGCCTGGAGT	0.413													49	63					1.48341e-19	1.66142e-19	0.870114	1	0	A	21057190	C	A	21057190	3	1	135	1	0	0	0	0	1	0	0	0	13379	535	19	5	1344	5	RIOK3	18	21057190	Missense_Mutation	SNP	C	TCGA-FG-6690-01A-11D-1893-08		21057190	57020058	31	6174											
C19orf26	255057	broad.mit.edu	37	chr19	1235018	1235018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accggcgacccttgtcctgcGtcttgcggctctgctcaaac	5	10	10	16	4	3	0	1	0	2	0	4	1	4	0	3	2	4	2	3	2	1	2			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr19:1235018G>A	uc002lrm.2	-	4	694	c.419C>T	c.(418-420)aCg>aTg	p.T140M		NM_152769	NP_689982	Q8N350	DOS_HUMAN	Homo sapiens chromosome 19 open reading frame 26 (C19orf26), mRNA.	140						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		CTTGTCCTGCGTCTTGCGGCT	0.701										HNSCC(14;0.022)			5	42					0	0	0.217242	0	0	A	1235018	G	A	1235018	3	1	135	1	0	0	0	0	1	0	0	0	1916	1145	40	1	944	1	C19orf26	19	1235018	Missense_Mutation	SNP	G	TCGA-FG-6690-01A-11D-1893-08		1235018	57893965	32	6175											
MUC16	94025	broad.mit.edu	37	chr19	9086351	9086351	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtcacctccattgatggagTtggagatggaagatccatag	11	11	12	7	0	1	3	1	1	0	2	3	6	3	5	3	3	0	1	3	3	2	3			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr19:9086351T>A	uc002mkp.3	-	0	5668	c.5464A>T	c.(5464-5466)Act>Tct	p.T1822S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1822	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATTGATGGAGTTGGAGATGGA	0.483													8	123					0	0	0.307466	0	0	A	9086351	T	A	9086351	3	1	135	1	0	0	0	0	1	0	0	0	9973	1725	60	5	38395	5	MUC16	19	9086351	Missense_Mutation	SNP	T	TCGA-FG-6690-01A-11D-1893-08	7851333	9086351	50042632	33	6176											
SMARCA4	6597	broad.mit.edu	37	chr19	11098500	11098500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggcagccggcccagcccGcgcccatggtgccactgcac	5	3	13	20	4	0	0	0	0	0	0	0	0	0	0	6	3	4	2	6	3	0	0			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr19:11098500G>A	uc010dxp.3	+	6	1378	c.1018G>A	c.(1018-1020)Gcg>Acg	p.A340T	SMARCA4_uc010dxo.3_Missense_Mutation_p.A340T|SMARCA4_uc002mqf.4_Missense_Mutation_p.A340T|SMARCA4_uc002mqg.1_Missense_Mutation_p.A340T|SMARCA4_uc010dxq.3_Missense_Mutation_p.A340T|SMARCA4_uc010dxr.3_Missense_Mutation_p.A340T|SMARCA4_uc002mqj.4_Missense_Mutation_p.A340T|SMARCA4_uc010dxs.3_Missense_Mutation_p.A340T|SMARCA4_uc002mqe.2_Missense_Mutation_p.A340T	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	340					chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGCCCAGCCCGCGCCCATGGT	0.746			"F, N, Mis"		NSCLC								11	6					0	0	0.38729	0	0	A	11098500	G	A	11098500	3	1	135	1	0	0	0	0	1	0	0	0	14770	1087	38	1	1036	1	SMARCA4	19	11098500	Missense_Mutation	SNP	G	TCGA-FG-6690-01A-11D-1893-08	2012149	11098500	48030483	34	6177											
ATP4A	495	broad.mit.edu	37	chr19	36054521	36054521	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acccctgggccccactcacgGccttccccatggtgcccggt	4	7	10	20	2	1	0	1	0	0	0	2	0	2	0	8	4	1	0	8	4	0	1			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr19:36054521G>A	uc002oal.1	-	1	41	c.12_splice	c.e1+1	p.A4_splice		NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	4					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CCCACTCACGGCCTTCCCCAT	0.652													9	41					0	0	0.307466	0	0	A	36054521	G	A	36054521	5	1	135	1	0	0	0	0	0	0	1	0	1145	1217	42	3	3184	3	ATP4A	19	36054521	Splice_Site	SNP	G	TCGA-FG-6690-01A-11D-1893-08	24956021	36054521	23074462	35	6178											
CBLN4	140689	broad.mit.edu	37	chr20	54573805	54573805	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttttccatttaacatcaaGttaacctagaagaagaaaaa	18	11	6	6	0	1	3	1	0	0	3	2	3	2	3	2	1	2	2	2	1	8	6			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr20:54573805G>A	uc002xxa.3	-	2	1199	c.414C>T	c.(412-414)aaC>aaT	p.N138N		NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	Homo sapiens cerebellin 4 precursor (CBLN4), mRNA.	138	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			TTAACATCAAGTTAACCTAGA	0.363													3	42					0	0	0.150653	0	0	A	54573805	G	A	54573805	2	1	135	1	0	0	0	0	0	0	0	1	2707	1020	36	3		3	CBLN4	20	54573805	Silent	SNP	G	TCGA-FG-6690-01A-11D-1893-08		54573805	8451715	36	6179											
ZNF831	128611	broad.mit.edu	37	chr20	57769660	57769660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcagtgtccctctgcccGcggagcagaaggcaaaggcg	8	4	15	14	4	1	1	0	0	1	1	2	2	2	2	3	3	2	3	3	3	2	0			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr20:57769660G>A	uc002yan.3	+	0	3586	c.3586G>A	c.(3586-3588)Gcg>Acg	p.A1196T		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1196						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCCTCTGCCCGCGGAGCAGAA	0.637													25	24					0	0	0.654019	0	0	A	57769660	G	A	57769660	3	1	135	1	0	0	0	0	1	0	0	0	18182	1087	38	1	3588	1	ZNF831	20	57769660	Missense_Mutation	SNP	G	TCGA-FG-6690-01A-11D-1893-08	3195855	57769660	5255860	37	6180											
ATRX	546	broad.mit.edu	37	chrX	76939522	76939522	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaatttaagtcttcttccAatgcaagatgagccttctta	11	14	7	9	1	3	2	0	1	3	1	4	3	4	3	2	1	2	1	2	1	5	6	rs122445109		TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chrX:76939522A>T	uc004ecp.4	-	8	1458	c.1226T>A	c.(1225-1227)tTg>tAg	p.L409*	ATRX_uc004ecq.4_Nonsense_Mutation_p.L371*|ATRX_uc004eco.4_Nonsense_Mutation_p.L194*|ATRX_uc004ecr.2_Nonsense_Mutation_p.L370*|ATRX_uc010nlx.1_Nonsense_Mutation_p.L409*|ATRX_uc010nly.1_Nonsense_Mutation_p.L354*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	409			L -> S (in MRXSHF1).		DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GTCTTCTTCCAATGCAAGATG	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						219	56					0	0	0.870114	0	0	T	76939522	A	T	76939522	4	4	135	1	0	0	0	0	0	1	0	0	1208	131	5	5	6360	5	ATRX	23	76939522	Nonsense_Mutation	SNP	A	TCGA-FG-6690-01A-11D-1893-08		76939522	78331038	38	6181											
DLGAP3	58512	broad.mit.edu	37	chr1	35334404	35334404	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggccccagggccgggggTgggggcgggggcagggccgg	2	1	26	12	4	0	0	0	0	0	0	0	0	0	0	5	10	0	1	5	10	0	0			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr1:35334404T>G	uc001byc.3	-	6	2287	c.2287A>C	c.(2287-2289)Acc>Ccc	p.T763P		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	763					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				gggccgggggtgggggcgggg	0.766													3	21					0	0	0.00116845	0	0	G	35334404	T	G	35334404	3	3	136	1	0	0	0	0	1	0	0	0	4561	1696	59	5	668	5	DLGAP3	1	35334404	Missense_Mutation	SNP	T	TCGA-FG-6691-01A-11D-1893-08		35334404	213916217	1	6182											
HIVEP3	59269	broad.mit.edu	37	chr1	42049093	42049093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtgctcgatcacctgcGtccggggtacagacaaaggc	9	8	13	11	3	1	2	1	1	0	1	3	3	2	2	2	3	3	2	2	3	2	1			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr1:42049093G>A	uc001cgz.4	-	3	2589	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	HIVEP3_uc001cha.4_Missense_Mutation_p.T459M|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	459	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GATCACCTGCGTCCGGGGTAC	0.637													12	48					0	0	0.000978159	0	0	A	42049093	G	A	42049093	3	1	136	1	0	0	0	0	1	0	0	0	7188	1145	40	1	5868	1	HIVEP3	1	42049093	Missense_Mutation	SNP	G	TCGA-FG-6691-01A-11D-1893-08	6714689	42049093	207201528	2	6183											
VIT	5212	broad.mit.edu	37	chr2	37032683	37032683	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatggctggcccaCggacaaagtggaggaggctt	9	7	18	7	1	0	0	0	0	0	0	0	5	0	4	1	8	0	2	1	8	1	1			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr2:37032683C>T	uc002rpl.3	+	13	1567	c.1265C>T	c.(1264-1266)aCg>aTg	p.T422M	VIT_uc002rpm.3_Missense_Mutation_p.T407M|VIT_uc010ezv.3_Missense_Mutation_p.T385M|VIT_uc010ezw.3_Missense_Mutation_p.T386M	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	407	VWFA 1.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GGCTGGCCCACGGACAAAGTG	0.502													16	85					0	0	0.00400662	0	0	T	37032683	C	T	37032683	3	4	136	1	0	0	0	0	1	0	0	0	17168	536	19	1	1440	1	VIT	2	37032683	Missense_Mutation	SNP	C	TCGA-FG-6691-01A-11D-1893-08		37032683	206166690	3	6184											
DYNC2LI1	51626	broad.mit.edu	37	chr2	44021694	44021694	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacaaaaagccatgtagacaAagtgataatgaaactgggaa	20	6	9	6	0	0	3	0	2	0	1	0	4	0	4	1	1	2	1	1	1	7	2			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr2:44021694A>G	uc002rtl.3	+	5	519	c.419A>G	c.(418-420)aAa>aGa	p.K140R	DYNC2LI1_uc002rth.3_Missense_Mutation_p.K140R|DYNC2LI1_uc002rti.3_3'UTR|DYNC2LI1_uc002rtk.3_Missense_Mutation_p.K140R|DYNC2LI1_uc010ynz.2_Missense_Mutation_p.K14R|DYNC2LI1_uc021vgq.1_Missense_Mutation_p.K14R	NM_001193464	NP_001180393	Q8TCX1	DC2L1_HUMAN	Homo sapiens dynein, cytoplasmic 2, light intermediate chain 1 (DYNC2LI1), transcript variant 4, mRNA.	140						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CATGTAGACAAAGTGATAATG	0.408													4	65					0	0	0.000602214	0	0	G	44021694	A	G	44021694	3	3	136	1	0	0	0	0	1	0	0	0	4847	14	1	3	441	3	DYNC2LI1	2	44021694	Missense_Mutation	SNP	A	TCGA-FG-6691-01A-11D-1893-08	6989011	44021694	199177679	4	6185											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr2:209113113G>T	uc002vcs.3	-	3	640	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_uc002vct.3_Missense_Mutation_p.R132S|IDH1_uc002vcu.3_Missense_Mutation_p.R132S	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								20	39					1.10923e-09	3.605e-09	0.00278032	1	0	T	209113113	G	T	209113113	3	4	136	1	0	0	0	0	1	0	0	0	7494	1058	37	5	878	5	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-FG-6691-01A-11D-1893-08	165091419	209113113	34086260	5	6186											
MAP3K13	9175	broad.mit.edu	37	chr3	185161243	185161243	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcttggaaggggtgtttgtActcaggccccatgttattgt	6	16	12	7	0	2	0	1	0	1	0	2	1	2	1	2	4	1	3	2	4	3	6			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr3:185161243A>G	uc010hyf.3	+	4	961	c.670A>G	c.(670-672)Act>Gct	p.T224A	MAP3K13_uc011brt.2_Missense_Mutation_p.T17A|MAP3K13_uc003fph.4_5'UTR|MAP3K13_uc011bru.2_Missense_Mutation_p.T80A|MAP3K13_uc003fpi.3_Missense_Mutation_p.T224A|MAP3K13_uc010hyg.3_Intron	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.	224	Protein kinase.				JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GGGTGTTTGTACTCAGGCCCC	0.363													3	59					0	0	6.4e-05	0	0	G	185161243	A	G	185161243	3	3	136	1	0	0	0	0	1	0	0	0	9247	391	14	3	680	3	MAP3K13	3	185161243	Missense_Mutation	SNP	A	TCGA-FG-6691-01A-11D-1893-08		185161243	12861187	6	6187											
MUC7	4589	broad.mit.edu	37	chr4	71347534	71347534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggccaaaataaaatttctcGatttcttttatatatgaaga	15	16	5	5	1	2	2	0	1	2	1	3	3	2	2	1	1	0	0	1	1	8	7	rs145866670		TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr4:71347534G>A	uc011cat.2	+	3	1361	c.1073G>A	c.(1072-1074)cGa>cAa	p.R358Q	MUC7_uc011cau.2_Missense_Mutation_p.R358Q|MUC7_uc003hfj.3_Missense_Mutation_p.R358Q	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	358						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AAAATTTCTCGATTTCTTTTA	0.358													5	69					0	0	0.000602214	0	0	A	71347534	G	A	71347534	3	1	136	1	0	0	0	0	1	0	0	0	9981	1058	37	2	1079	2	MUC7	4	71347534	Missense_Mutation	SNP	G	TCGA-FG-6691-01A-11D-1893-08		71347534	119806742	7	6188											
WBSCR17	64409	broad.mit.edu	37	chr7	70853295	70853295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcgtgaacgaggccctgtCggtgatcctgcggtccgtgc	4	10	14	13	5	0	2	0	2	0	0	4	3	2	2	3	3	3	0	3	3	1	1			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr7:70853295C>T	uc003tvy.3	+	2	497	c.497C>T	c.(496-498)tCg>tTg	p.S166L	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	166	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GAGGCCCTGTCGGTGATCCTG	0.542													7	68					0	0	0.00198382	0	0	T	70853295	C	T	70853295	3	4	136	1	0	0	0	0	1	0	0	0	17261	893	31	2	507	2	WBSCR17	7	70853295	Missense_Mutation	SNP	C	TCGA-FG-6691-01A-11D-1893-08		70853295	88285368	8	6189											
LONRF1	91694	broad.mit.edu	37	chr8	12595574	12595574	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaaatcaaaaggtctgtttTtagtacatggtaatgaactc	15	13	8	5	0	2	1	1	1	1	0	3	2	2	1	0	2	2	3	0	2	8	5			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr8:12595574T>C	uc003wwd.1	-	3	1106	c.1043A>G	c.(1042-1044)aAa>aGa	p.K348R	LONRF1_uc011kxv.1_5'Flank|LONRF1_uc010lsp.1_5'UTR	NM_152271	NP_689484	Q17RB8	LONF1_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 1 (LONRF1), mRNA.	348					proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		AGGTCTGTTTTTAGTACATGG	0.363													16	41					0	0	0.00400662	0	0	C	12595574	T	C	12595574	3	2	136	1	0	0	0	0	1	0	0	0	8894	1841	64	3	1314	3	LONRF1	8	12595574	Missense_Mutation	SNP	T	TCGA-FG-6691-01A-11D-1893-08		12595574	133768448	9	6190											
SEMA7A	8482	broad.mit.edu	37	chr15	74709961	74709961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaccagggagttctcgtccGggctgaagggggcgtagcct	7	7	17	10	3	1	1	0	1	1	0	3	3	2	2	3	4	2	3	3	4	3	2	rs140327601		TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr15:74709961G>A	uc002axv.3	-	4	561	c.521C>T	c.(520-522)cCg>cTg	p.P174L	SEMA7A_uc010ulk.2_Missense_Mutation_p.P9L|SEMA7A_uc010ull.2_Missense_Mutation_p.P160L	NM_003612	NP_001139502	O75326	SEM7A_HUMAN	Homo sapiens semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) (SEMA7A), transcript variant 1, mRNA.	174	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of axon extension|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GTTCTCGTCCGGGCTGAAGGG	0.612													15	33					0	0	0.00074312	0	0	A	74709961	G	A	74709961	3	1	136	1	0	0	0	0	1	0	0	0	14043	1116	39	2	1519	2	SEMA7A	15	74709961	Missense_Mutation	SNP	G	TCGA-FG-6691-01A-11D-1893-08		74709961	27821431	10	6191											
TP53	7157	broad.mit.edu	37	chr17	7578444	7578449	+	In_Frame_Del	DEL	GATGGC	GATGGC	-																															atgtgctgtgactgcttgtaGatggccatggcgcggacgcg																										TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr17:7578444_7578449delGATGGC	uc002gim.2	-	4	675_680	c.481_486delGCCATC	c.(481-486)gccatcdel	p.AI161del	TP53_uc002gig.1_In_Frame_Del_p.AI161del|TP53_uc002gih.3_In_Frame_Del_p.AI161del|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_In_Frame_Del_p.AI29del|TP53_uc010cnf.1_In_Frame_Del_p.AI29del|TP53_uc002gii.1_In_Frame_Del_p.AI29del|TP53_uc010cni.1_In_Frame_Del_p.AI161del|TP53_uc010cnh.1_In_Frame_Del_p.AI161del|TP53_uc002gij.2_In_Frame_Del_p.AI161del|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_In_Frame_Del_p.AI68del|TP53_uc002gio.2_In_Frame_Del_p.AI29del|TP53_uc010vug.2_In_Frame_Del_p.AI122del	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	161	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.A161T(109)|p.I162F(20)|p.A161D(20)|p.A161V(16)|p.I162S(12)|p.I162N(10)|p.I162V(10)|p.A161A(10)|p.I162I(8)|p.0?(8)|p.I162M(6)|p.M160I(6)|p.A161fs*9(6)|p.M160fs*10(5)|p.I162_Y163>N(4)|p.M160V(4)|p.R156_I162delRVRAMAI(4)|p.M160K(4)|p.I162fs*19(4)|p.I162fs*10(4)|p.A68T(3)|p.M160L(3)|p.A29T(3)|p.V157_C176del20(2)|p.R156_A161delRVRAMA(2)|p.P151_V173del23(2)|p.A161S(2)|p.A161fs*19(2)|p.A161fs*10(2)|p.R156_A161del(2)|p.I162_Y163delIY(2)|p.A161fs*20(2)|p.M160_A161>IS(2)|p.A161fs*8(2)|p.A161G(2)|p.I162fs*8(2)|p.A161fs*7(2)|p.T155_A161delTRVRAMA(2)|p.A161P(2)|p.V157_I162delVRAMAI(2)|p.A161F(2)|p.A159_Q167delAMAIYKQSQ(2)|p.A68D(1)|p.M160T(1)|p.I30_Y31>N(1)|p.R156fs*18(1)|p.I69_Y70>N(1)|p.A29D(1)|p.V157fs*9(1)|p.I69S(1)|p.I30fs*10(1)|p.V157_M160delVRAM(1)|p.I69N(1)|p.S149fs*72(1)|p.I30N(1)|p.I69fs*10(1)|p.R158_A161del(1)|p.R156fs*20(1)|p.Y163fs*18(1)|p.R158fs*8(1)|p.I30S(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)		ACTGCTTGTAGATGGCCATGGCGCGG	0.631		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)			38	25	---	---	---	---						-	7578449	GATGGC	-	7578444	7	5	136	1	0	1	0	1	0	0	0	0	16378	932	33	0	812	0	TP53	17	7578444	In_Frame_Del	DEL	GATGGC	TCGA-FG-6691-01A-11D-1893-08		7578444	73616766	11	6192											
TSPAN16	26526	broad.mit.edu	37	chr19	11417342	11417342	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttccttcgaaatgacaacGggccacacctaccccaggag	11	7	8	15	2	1	1	0	1	1	0	3	3	2	2	5	2	2	0	5	2	3	3			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr19:11417342G>A	uc002mqv.1	+	4	663	c.513G>A	c.(511-513)acG>acA	p.T171T	TSPAN16_uc002mqu.1_Non-coding_Transcript|AF161365_uc002mqw.1_Intron	NM_012466	NP_036598	Q9UKR8	TSN16_HUMAN	Homo sapiens tetraspanin 16 (TSPAN16), mRNA.	171						integral to membrane		p.T171M(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						AAATGACAACGGGCCACACCT	0.488													5	65					0	0	0.00198382	0	0	A	11417342	G	A	11417342	2	1	136	1	0	0	0	0	0	0	0	1	16637	1103	39	2		2	TSPAN16	19	11417342	Silent	SNP	G	TCGA-FG-6691-01A-11D-1893-08		11417342	47711641	12	6193											
OR10H3	26532	broad.mit.edu	37	chr19	15852474	15852474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatctgctcttcacccatcGttccatcacctttgtggctt	5	16	6	14	1	4	1	2	1	2	0	6	1	5	1	3	1	1	3	3	1	0	4			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr19:15852474G>A	uc010xoq.2	+	0	272	c.272G>A	c.(271-273)cGt>cAt	p.R91H		NM_013938	NP_039226	O60404	O10H3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TTCACCCATCGTTCCATCACC	0.498													10	381					0	0	0.00185496	0	0	A	15852474	G	A	15852474	3	1	136	1	0	0	0	0	1	0	0	0	10907	1145	40	1	274	1	OR10H3	19	15852474	Missense_Mutation	SNP	G	TCGA-FG-6691-01A-11D-1893-08	4435132	15852474	43276509	13	6194											
ATRX	546	broad.mit.edu	37	chrX	76939673	76939674	+	Frame_Shift_Ins	INS	-	-	T																															ttggctgtggtctcaatcagINStttttttgccttcttaatca																										TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chrX:76939673_76939674insT	uc004ecp.4	-	8	1306_1307	c.1074_1075insA	c.(1072-1077)aaactgfs	p.K358fs	ATRX_uc004ecq.4_Frame_Shift_Ins_p.K320fs|ATRX_uc004eco.4_Frame_Shift_Ins_p.K143fs|ATRX_uc004ecr.2_Frame_Shift_Ins_p.K319fs|ATRX_uc010nlx.1_Frame_Shift_Ins_p.K358fs|ATRX_uc010nly.1_Frame_Shift_Ins_p.K303fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	358					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GTCTCAATCAGTTTTTTTGCCT	0.366			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						53	96	---	---	---	---						T	76939674	-	T	76939673	7	5	136	1	0	1	1	0	0	0	0	0	1208	1020	36	0	6511	0	ATRX	23	76939673	Frame_Shift_Ins	INS	-	TCGA-FG-6691-01A-11D-1893-08		76939673	78330887	14	6195											
GPRASP1	9737	broad.mit.edu	37	chrX	101909851	101909851	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggccaggcacagggccaagcGagaagcttgcattgatttca	11	7	13	10	1	1	2	1	1	0	1	1	3	1	2	2	3	3	3	2	3	2	3			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chrX:101909851G>C	uc010nod.3	+	2	1652	c.1010G>C	c.(1009-1011)cGa>cCa	p.R337P	ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Missense_Mutation_p.R337P|GPRASP1_uc004ejj.4_Missense_Mutation_p.R337P|GPRASP1_uc004eji.4_Missense_Mutation_p.R337P|GPRASP1_uc022cbd.1_Missense_Mutation_p.R337P	NM_001099411	NP_055525	Q5JY77	GASP1_HUMAN	Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA.	337						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGGGCCAAGCGAGAAGCTTGC	0.478													5	107					0	0	0.00116845	0	0	C	101909851	G	C	101909851	3	2	136	1	0	0	0	0	1	0	0	0	6722	1058	37	5	1012	5	GPRASP1	23	101909851	Missense_Mutation	SNP	G	TCGA-FG-6691-01A-11D-1893-08	24970178	101909851	53360709	15	6196											
ELTD1	64123	broad.mit.edu	37	chr1	79392754	79392754	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaccaatactcttataataTacaaatgcaactgcaacatt	17	11	4	9	0	1	0	0	0	1	0	1	1	1	1	1	1	6	2	1	1	9	6			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr1:79392754T>A	uc001diq.4	-	7	1056	c.900A>T	c.(898-900)gtA>gtT	p.V300V		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	300			V -> L (in dbSNP:rs12754818).		neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TCTTATAATATACAAATGCAA	0.274													24	44					0	0	0.083992	0	0	A	79392754	T	A	79392754	2	1	137	1	0	0	0	0	0	0	0	1	5084	1393	49	5		5	ELTD1	1	79392754	Silent	SNP	T	TCGA-FG-6692-01A-11D-1893-08		79392754	169857867	1	6197											
ABCA4	24	broad.mit.edu	37	chr1	94486937	94486937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cattgagaaagctgaccaggGcatgccagcctttgttatta	11	11	10	9	0	0	2	0	2	0	1	0	3	0	2	3	1	3	3	3	1	3	4			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr1:94486937G>A	uc001dqh.3	-	34	4981	c.4877C>T	c.(4876-4878)gCc>gTc	p.A1626V	ABCA4_uc009wdp.1_5'Flank	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1626					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GCTGACCAGGGCATGCCAGCC	0.517													4	167					0	0	0.009096	0	0	A	94486937	G	A	94486937	3	1	137	1	0	0	0	0	1	0	0	0	34	1203	42	3	2008	3	ABCA4	1	94486937	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	15094183	94486937	154763684	2	6198											
VCAM1	7412	broad.mit.edu	37	chr1	101198155	101198155	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctcaccttaatttctacAaaaatggaagattctggggt	13	13	7	8	0	3	1	1	0	3	1	4	2	3	2	1	3	1	0	1	3	5	4			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr1:101198155A>G	uc001dti.3	+	6	1928	c.1707A>G	c.(1705-1707)acA>acG	p.T569T	VCAM1_uc010ouj.2_Silent_p.T507T|VCAM1_uc001dtj.3_Silent_p.T477T	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	569	Ig-like C2-type 6.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TAATTTCTACAAAAATGGAAG	0.458													37	50					0	0	0.069456	0	0	G	101198155	A	G	101198155	2	3	137	1	0	0	0	0	0	0	0	1	17134	117	5	3		3	VCAM1	1	101198155	Silent	SNP	A	TCGA-FG-6692-01A-11D-1893-08	6711218	101198155	148052466	3	6199											
FLG2	388698	broad.mit.edu	37	chr1	152328212	152328212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgacctgatctagactcatGttgtccaaaaccagaggatt	13	11	8	9	0	2	4	1	2	1	2	3	5	3	5	3	1	1	1	3	1	3	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr1:152328212G>A	uc001ezw.4	-	2	2123	c.2050C>T	c.(2050-2052)Cat>Tat	p.H684Y	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	684	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGACTCATGTTGTCCAAAA	0.473													206	326					0	0	0.048971	0	0	A	152328212	G	A	152328212	3	1	137	1	0	0	0	0	1	0	0	0	5923	1377	48	3	5129	3	FLG2	1	152328212	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	51130057	152328212	96922409	4	6200											
RNASEL	6041	broad.mit.edu	37	chr1	182544690	182544690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttctgaaaatacagggaaGggtctccaatttttaatttc	12	15	7	7	0	3	1	0	1	3	0	5	2	3	2	1	2	1	0	1	2	6	6			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr1:182544690G>A	uc009wxz.2	-	6	2320	c.2063C>T	c.(2062-2064)cCt>cTt	p.P688L		NM_021133	NP_066956	Q05823	RN5A_HUMAN	Homo sapiens ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (RNASEL), mRNA.	688	KEN.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|RNA binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity	p.D687N(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						ATACAGGGAAGGGTCTCCAAT	0.398													25	40					0	0	0.034045	0	0	A	182544690	G	A	182544690	3	1	137	1	0	0	0	0	1	0	0	0	13416	1000	35	3	166	3	RNASEL	1	182544690	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	30216478	182544690	66705931	5	6201											
GREM2	64388	broad.mit.edu	37	chr1	240656344	240656344	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttctggattttcttgagtcgGaagggtgggtccaggccggg	5	12	17	7	2	2	1	0	1	2	0	4	3	3	3	2	6	0	0	2	6	1	4			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr1:240656344G>A	uc021plf.1	-	0	432	c.432C>T	c.(430-432)ttC>ttT	p.F144F	GREM2_uc001hys.3_Silent_p.F144F	NM_022469	NP_071914	Q9H772	GREM2_HUMAN	Homo sapiens gremlin 2 (GREM2), mRNA.	144	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			TCTTGAGTCGGAAGGGTGGGT	0.647													38	58					0	0	0.042209	0	0	A	240656344	G	A	240656344	2	1	137	1	0	0	0	0	0	0	0	1	6762	1165	41	3		3	GREM2	1	240656344	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08	58111654	240656344	8594277	6	6202											
SDC1	6382	broad.mit.edu	37	chr2	20403920	20403920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttgggcccctctccagccGgcagggtggaggtggaggca	5	6	17	13	1	1	0	0	0	1	0	2	2	1	2	5	7	1	2	5	7	0	1			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:20403920G>A	uc002rdo.1	-	2	580	c.281C>T	c.(280-282)cCg>cTg	p.P94L	SDC1_uc002rdp.1_Missense_Mutation_p.P94L|SDC1_uc010exv.3_Missense_Mutation_p.P94L|SDC1_uc010exw.1_Non-coding_Transcript	NM_002997	NP_002988	P18827	SDC1_HUMAN	Homo sapiens syndecan 1 (SDC1), transcript variant 2, mRNA.	94					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CTCTCCAGCCGGCAGGGTGGA	0.687													45	95					0	0	0.039052	0	0	A	20403920	G	A	20403920	3	1	137	1	0	0	0	0	1	0	0	0	13951	1116	39	2	663	2	SDC1	2	20403920	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08		20403920	222795453	7	6203											
LRRTM4	80059	broad.mit.edu	37	chr2	77746149	77746149	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcttgttggaatccaaattCaatttttgtaaattggggag	12	15	10	4	0	1	0	1	0	0	0	2	2	2	2	1	3	1	3	1	3	5	7			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:77746149C>T	uc002snr.3	-	2	1261	c.846G>A	c.(844-846)ttG>ttA	p.L282L	LRRTM4_uc002snq.3_Silent_p.L282L|LRRTM4_uc002sns.2_Silent_p.L282L|LRRTM4_uc002snt.2_Silent_p.L283L	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.	282						integral to membrane		p.L282F(3)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AATCCAAATTCAATTTTTGTA	0.398													15	12					0	0	0.020292	0	0	T	77746149	C	T	77746149	2	4	137	1	0	0	0	0	0	0	0	1	9042	825	29	3		3	LRRTM4	2	77746149	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08	57342229	77746149	165453224	8	6204											
SAP130	79595	broad.mit.edu	37	chr2	128747195	128747195	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cataggtgcaggctgaagccCttgtgtgttgattggggttg	6	13	16	6	0	0	2	0	2	0	0	0	2	0	2	1	4	2	4	1	4	2	5			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:128747195C>A	uc010fmd.2	-	12	1933	c.1801G>T	c.(1801-1803)Ggg>Tgg	p.G601W	SAP130_uc002tpn.2_Missense_Mutation_p.G362W|SAP130_uc002tpp.2_Missense_Mutation_p.G601W|SAP130_uc002tpq.1_Missense_Mutation_p.G574W	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	601					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GGCTGAAGCCCTTGTGTGTTG	0.512													4	133					0.000602214	0.00066398	0.014758	1	0	A	128747195	C	A	128747195	3	1	137	1	0	0	0	0	1	0	0	0	13831	681	24	5	1486	5	SAP130	2	128747195	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	51001046	128747195	114452178	9	6205											
TTN	7273	broad.mit.edu	37	chr2	179498031	179498031	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctctactccgtacagaggCttttccacttttattagtcg	8	15	6	12	2	1	1	0	0	1	1	4	1	3	1	3	1	2	2	3	1	4	7			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:179498031C>T	uc021vsy.1	-	181	35490	c.35265G>A	c.(35263-35265)aaG>aaA	p.K11755K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.K5450K|TTN_uc021vta.1_Silent_p.K5383K|TTN_uc021vtb.1_Silent_p.K5258K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12682	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGTACAGAGGCTTTTCCACTT	0.403													68	100					0	0	0.048971	0	0	T	179498031	C	T	179498031	2	4	137	1	0	0	0	0	0	0	0	1	16732	796	28	3		3	TTN	2	179498031	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08	50750836	179498031	63701342	10	6206											
DNAH7	56171	broad.mit.edu	37	chr2	196720560	196720560	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccaggtcagccttctttTgtttatttaattcaagtgtg	7	20	7	7	0	3	0	2	0	1	0	4	0	4	0	2	1	1	1	2	1	3	9			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:196720560T>A	uc002utj.4	-	44	8671	c.8570A>T	c.(8569-8571)cAa>cTa	p.Q2857L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2857	Stalk (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						AGCCTTCTTTTGTTTATTTAA	0.403													140	216					0	0	0.048971	0	0	A	196720560	T	A	196720560	3	1	137	1	0	0	0	0	1	0	0	0	4606	1812	63	5	3588	5	DNAH7	2	196720560	Missense_Mutation	SNP	T	TCGA-FG-6692-01A-11D-1893-08	17222529	196720560	46478813	11	6207											
CRYGB	1419	broad.mit.edu	37	chr2	209007511	209007511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccagctgccctccagcaCattgagggagtgaatttcag	10	9	11	11	0	1	2	1	2	0	0	3	4	3	3	3	1	3	2	3	1	1	2			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:209007511C>T	uc002vcp.4	-	2	412	c.379G>A	c.(379-381)Gtg>Atg	p.V127M	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Intron	NM_005210	NP_005201	P07316	CRGB_HUMAN	Homo sapiens crystallin, gamma B (CRYGB), mRNA.	127	Beta/gamma crystallin 'Greek key' 3.				visual perception		structural constituent of eye lens			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		CCCTCCAGCACATTGAGGGAG	0.542													73	108					0	0	0.048971	0	0	T	209007511	C	T	209007511	3	4	137	1	0	0	0	0	1	0	0	0	3915	478	17	3	152	3	CRYGB	2	209007511	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	12286951	209007511	34191862	12	6208											
DGKD	8527	broad.mit.edu	37	chr2	234360660	234360660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggtggctcagtcatcagtCgcctgttaattaatgctgat	8	13	10	10	2	3	1	3	1	0	0	4	1	3	1	2	2	1	3	2	2	2	2			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:234360660C>T	uc002vui.1	+	17	2230	c.2218C>T	c.(2218-2220)Cgc>Tgc	p.R740C	DGKD_uc002vuj.1_Missense_Mutation_p.R696C|DGKD_uc010fyh.1_Missense_Mutation_p.R607C|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	740					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AGTCATCAGTCGCCTGTTAAT	0.493													41	63					0	0	0.039052	0	0	T	234360660	C	T	234360660	3	4	137	1	0	0	0	0	1	0	0	0	4467	884	31	2	2312	2	DGKD	2	234360660	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	25353149	234360660	8838713	13	6209											
DNAJB3	414061	broad.mit.edu	37	chr2	234652378	234652378	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagcggtcatagatatcgCgtttcttggcgtccgacaac	9	11	10	11	5	2	1	1	0	1	1	4	2	3	1	1	2	2	1	1	2	4	5			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:234652378C>T	uc002vuz.3	-	0	284	c.185G>A	c.(184-186)cGc>cAc	p.R62H	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc002vuw.3_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 3 (DNAJB3), mRNA.	62	J.				protein folding		heat shock protein binding|unfolded protein binding										ATAGATATCGCGTTTCTTGGC	0.622													112	196					0	0	0.048971	0	0	T	234652378	C	T	234652378	3	4	137	1	0	0	0	0	1	0	0	0	4621	768	27	1	256	1	DNAJB3	2	234652378	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	291718	234652378	8546995	14	6210											
COL6A3	1293	broad.mit.edu	37	chr2	238303658	238303658	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgtttagtacgatacgtaTttaacaggaactcggtatgt	11	15	9	6	3	0	0	0	0	0	0	1	2	0	1	0	2	4	4	0	2	7	9			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:238303658T>C	uc002vwl.2	-	2	566	c.281A>G	c.(280-282)aAt>aGt	p.N94S	COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.3_Intron|COL6A3_uc002vwr.3_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.N94S	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	94	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACGATACGTATTTAACAGGAA	0.368													36	49					0	0	0.069456	0	0	C	238303658	T	C	238303658	3	2	137	1	0	0	0	0	1	0	0	0	3701	1493	52	3	9467	3	COL6A3	2	238303658	Missense_Mutation	SNP	T	TCGA-FG-6692-01A-11D-1893-08	3651280	238303658	4895715	15	6211											
GPR27	2850	broad.mit.edu	37	chr3	71803791	71803791	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgtggtggtgggcgccacGcacctcgtctacctccgcct	3	8	13	17	5	1	0	0	0	1	0	3	0	2	0	6	3	1	1	6	3	1	1			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr3:71803791G>T	uc011bge.2	+	0	591	c.591G>T	c.(589-591)acG>acT	p.T197T	EIF4E3_uc003dox.3_5'Flank|EIF4E3_uc011bgd.2_5'Flank|EIF4E3_uc010hoc.3_Intron	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN	Homo sapiens G protein-coupled receptor 27 (GPR27), mRNA.	197						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		TGGGCGCCACGCACCTCGTCT	0.746													4	3					2.56e-06	2.8469e-06	0.009096	1	0	T	71803791	G	T	71803791	2	4	137	1	0	0	0	0	0	0	0	1	6685	1074	38	5		5	GPR27	3	71803791	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08		71803791	126218639	16	6212											
VEPH1	79674	broad.mit.edu	37	chr3	156978935	156978935	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataaatccctacagatatgtGgttacttctctactttccct	10	16	4	11	0	1	1	0	0	1	1	4	1	3	1	2	1	3	1	2	1	6	7			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr3:156978935G>A	uc003fbj.2	-	13	2909	c.2490C>T	c.(2488-2490)acC>acT	p.T830T	VEPH1_uc003fbk.2_Silent_p.T830T|VEPH1_uc010hvu.2_Silent_p.T785T	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Homo sapiens ventricular zone expressed PH domain homolog 1 (zebrafish) (VEPH1), transcript variant 1, mRNA.	830						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ACAGATATGTGGTTACTTCTC	0.408													44	72					0	0	0.048971	0	0	A	156978935	G	A	156978935	2	1	137	1	0	0	0	0	0	0	0	1	17151	1335	47	3		3	VEPH1	3	156978935	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08	85175144	156978935	41043495	17	6213											
MECOM	2122	broad.mit.edu	37	chr3	168838969	168838969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgctgagagcgaatgtgcCgctgaaggttgctagggtcc	8	9	15	9	2	0	2	0	2	0	1	1	4	1	2	2	2	4	4	2	2	3	2			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr3:168838969C>T	uc011bpj.1	-	6	1410	c.1007G>A	c.(1006-1008)cGg>cAg	p.R336Q	MECOM_uc010hwk.1_Missense_Mutation_p.R171Q|MECOM_uc003ffj.3_Missense_Mutation_p.R213Q|MECOM_uc003ffi.3_Missense_Mutation_p.R148Q|MECOM_uc011bpi.1_Missense_Mutation_p.R149Q|MECOM_uc003ffn.3_Missense_Mutation_p.R148Q|MECOM_uc003ffk.2_Missense_Mutation_p.R148Q|MECOM_uc003ffl.2_Missense_Mutation_p.R308Q|MECOM_uc011bpk.1_Missense_Mutation_p.R148Q|MECOM_uc010hwn.2_Missense_Mutation_p.R336Q	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GCGAATGTGCCGCTGAAGGTT	0.517													25	36					0	0	0.0918	0	0	T	168838969	C	T	168838969	3	4	137	1	0	0	0	0	1	0	0	0	9422	652	23	2	2756	2	MECOM	3	168838969	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	11860034	168838969	29183461	18	6214											
LETM1	3954	broad.mit.edu	37	chr4	1824793	1824793	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctgcagcgtggcctcCagcttggccttgttgtccac	3	12	10	16	1	0	0	0	0	0	0	4	0	4	0	6	2	3	3	6	2	0	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr4:1824793C>T	uc003gdv.3	-	8	1695	c.1398G>A	c.(1396-1398)ctG>ctA	p.L466L		NM_012318	NP_036450	O95202	LETM1_HUMAN	Homo sapiens leucine zipper-EF-hand containing transmembrane protein 1 (LETM1), nuclear gene encoding mitochondrial protein, mRNA.	466					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			GCGTGGCCTCCAGCTTGGCCT	0.632													44	57					0	0	0.039052	0	0	T	1824793	C	T	1824793	2	4	137	1	0	0	0	0	0	0	0	1	8734	581	21	3		3	LETM1	4	1824793	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08		1824793	189329483	19	6215											
SMAD1	4086	broad.mit.edu	37	chr4	146435947	146435947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgagctgcccagggcaacCgagtaactgtgtcaccattc	9	9	10	13	1	1	1	1	1	0	0	2	2	1	1	3	1	4	3	3	1	2	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr4:146435947C>T	uc003ikc.3	+	1	598	c.182C>T	c.(181-183)cCg>cTg	p.P61L	SMAD1_uc003ikd.3_Missense_Mutation_p.P61L|SMAD1_uc010iov.3_Missense_Mutation_p.P61L|SMAD1_uc011cic.2_Missense_Mutation_p.P61L	NM_005900	NP_005891	Q15797	SMAD1_HUMAN	Homo sapiens SMAD family member 1 (SMAD1), transcript variant 1, mRNA.	61	MH1.				BMP signaling pathway|SMAD protein complex assembly|embryonic pattern specification|primary miRNA processing|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	I-SMAD binding|co-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					CCAGGGCAACCGAGTAACTGT	0.532													27	38					0	0	0.0918	0	0	T	146435947	C	T	146435947	3	4	137	1	0	0	0	0	1	0	0	0	14757	652	23	2	184	2	SMAD1	4	146435947	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	144611154	146435947	44718329	20	6216											
IRX1	79192	broad.mit.edu	37	chr5	3599597	3599597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggtctccacctggttcGccaacgcgcgccggcgcctc	4	6	12	19	7	1	0	0	0	1	0	4	0	1	0	5	3	1	2	5	3	1	1			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr5:3599597G>A	uc003jde.3	+	1	587	c.535G>A	c.(535-537)Gcc>Acc	p.A179T		NM_024337	NP_077313	P78414	IRX1_HUMAN	Homo sapiens iroquois homeobox 1 (IRX1), mRNA.	179						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CACCTGGTTCGCCAACGCGCG	0.622													41	67					0	0	0.039052	0	0	A	3599597	G	A	3599597	3	1	137	1	0	0	0	0	1	0	0	0	7843	1087	38	1	541	1	IRX1	5	3599597	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08		3599597	177315663	21	6217											
HEATR7B2	133558	broad.mit.edu	37	chr5	41058282	41058282	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaagctcaccgtgggcccGtgggccttaacgatgctcaa	9	7	12	13	3	2	0	2	0	0	0	2	1	2	0	3	2	4	3	3	2	3	1			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr5:41058282G>A	uc003jmj.4	-	6	1129	c.639C>T	c.(637-639)caC>caT	p.H213H	HEATR7B2_uc003jmi.4_5'UTR|HEATR7B2_uc021xxt.1_Silent_p.H213H	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	213							binding	p.H213H(4)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CCGTGGGCCCGTGGGCCTTAA	0.502													13	22					0	0	0.105934	0	0	A	41058282	G	A	41058282	2	1	137	1	0	0	0	0	0	0	0	1	7035	1136	40	1		1	HEATR7B2	5	41058282	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08	37458685	41058282	139856978	22	6218											
IL31RA	133396	broad.mit.edu	37	chr5	55178899	55178899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaccacctaagattttccGtgtgaaaccagttttgggca	11	12	9	9	1	0	3	0	2	0	1	1	3	1	3	4	1	2	2	4	1	3	5	rs142659639		TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr5:55178899G>A	uc003jql.3	+	4	674	c.482G>A	c.(481-483)cGt>cAt	p.R161H	IL31RA_uc003jqk.3_Missense_Mutation_p.R161H|IL31RA_uc011cqj.2_Missense_Mutation_p.R19H|IL31RA_uc003jqm.3_Missense_Mutation_p.R142H|IL31RA_uc003jqn.3_Missense_Mutation_p.R161H|IL31RA_uc010iwa.1_Missense_Mutation_p.R129H|IL31RA_uc021xyq.1_Missense_Mutation_p.R142H|IL31RA_uc003jqo.3_Missense_Mutation_p.R19H	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	129	Fibronectin type-III 2.				JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				AAGATTTTCCGTGTGAAACCA	0.353													35	63					0	0	0.064281	0	0	A	55178899	G	A	55178899	3	1	137	1	0	0	0	0	1	0	0	0	7691	1145	40	1	500	1	IL31RA	5	55178899	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	14120617	55178899	125736361	23	6219											
RGNEF	64283	broad.mit.edu	37	chr5	73048961	73048961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccttggatgaggagctcGtgctggctctgacccatctg	5	11	13	12	1	2	2	0	2	2	0	3	4	2	4	2	3	3	3	2	3	0	1			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr5:73048961G>A	uc010izf.3	+	3	585	c.409G>A	c.(409-411)Gtg>Atg	p.V137M	RGNEF_uc011csq.2_Missense_Mutation_p.V137M|RGNEF_uc003kcy.1_Missense_Mutation_p.V137M|RGNEF_uc021yam.1_Missense_Mutation_p.V137M	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	137					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	RNA binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		TGAGGAGCTCGTGCTGGCTCT	0.567													13	17					0	0	0.105934	0	0	A	73048961	G	A	73048961	3	1	137	1	0	0	0	0	1	0	0	0	13283	1145	40	1	419	1	RGNEF	5	73048961	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	17870062	73048961	107866299	24	6220											
RASGRF2	5924	broad.mit.edu	37	chr5	80382758	80382758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgctggacaccagccaaaCgttcatccgccaaggtaagt	11	8	9	13	2	1	0	1	0	0	0	2	1	2	1	4	2	3	3	4	2	3	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr5:80382758C>T	uc003kha.2	+	8	1426	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	RASGRF2_uc011ctn.2_Non-coding_Transcript|RASGRF2_uc003khb.1_Missense_Mutation_p.T287M	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	459					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	Rho guanyl-nucleotide exchange factor activity|protein binding			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ACCAGCCAAACGTTCATCCGC	0.532													37	62					0	0	0.064281	0	0	T	80382758	C	T	80382758	3	4	137	1	0	0	0	0	1	0	0	0	13073	536	19	1	1410	1	RASGRF2	5	80382758	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	7333797	80382758	100532502	25	6221											
PCDHGC5	56097	broad.mit.edu	37	chr5	140755693	140755693	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcagcctcgagccctcCgccaaacccaacgattcgga	9	5	10	17	4	0	0	0	0	0	0	3	3	1	1	5	2	4	1	5	2	2	1			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr5:140755693C>T	uc003ljy.2	+	0	2043	c.2043C>T	c.(2041-2043)tcC>tcT	p.S681S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Silent_p.S681S	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	684					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGAGCCCTCCGCCAAACCCA	0.682													46	80					0	0	0.048971	0	0	T	140755693	C	T	140755693	2	4	137	1	0	0	0	0	0	0	0	1	11571	639	23	2		2	PCDHGC5	5	140755693	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08	60372935	140755693	40159567	26	6222											
GMDS	2762	broad.mit.edu	37	chr6	1961060	1961060	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttctggggtatttcctgCactttcccataaagttcact	7	16	6	12	0	2	0	1	0	1	0	5	0	5	0	3	2	1	3	3	2	3	6			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr6:1961060C>T	uc003mtq.3	-	4	698	c.486G>A	c.(484-486)gtG>gtA	p.V162V	GMDS_uc021ykn.1_Silent_p.V132V	NM_001500	NP_001491	O60547	GMDS_HUMAN	Homo sapiens GDP-mannose 4,6-dehydratase (GMDS), transcript variant 1, mRNA.	162					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		GDP-mannose 4,6-dehydratase activity|coenzyme binding		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		GTATTTCCTGCACTTTCCCAT	0.498													65	99					0	0	0.048971	0	0	T	1961060	C	T	1961060	2	4	137	1	0	0	0	0	0	0	0	1	6486	697	25	3		3	GMDS	6	1961060	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08		1961060	169154007	27	6223											
BTN2A1	11120	broad.mit.edu	37	chr6	26463544	26463544	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccggctggagtgcatatctaGagggtggtacccaaagcccc	9	7	13	12	1	1	1	0	0	1	1	1	2	1	2	4	4	3	3	4	4	4	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr6:26463544G>A	uc003nib.2	+	3	751	c.503G>A	c.(502-504)aGa>aAa	p.R168K	BTN2A1_uc021yni.1_Missense_Mutation_p.R168K|BTN2A1_uc003nic.2_Missense_Mutation_p.R168K|BTN2A1_uc011dko.2_Missense_Mutation_p.R107K	NM_007049	NP_001184162	Q7KYR7	BT2A1_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A1 (BTN2A1), transcript variant 1, mRNA.	168					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						TGCATATCTAGAGGGTGGTAC	0.587													49	72					0	0	0.048971	0	0	A	26463544	G	A	26463544	3	1	137	1	0	0	0	0	1	0	0	0	1560	942	33	3	513	3	BTN2A1	6	26463544	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	24502484	26463544	144651523	28	6224											
NOTCH4	4855	broad.mit.edu	37	chr6	32188296	32188296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctcctcacagcttgtgcCgccccagccactcacacaca	8	8	6	19	1	3	0	2	0	1	0	4	0	3	0	5	0	3	2	5	0	0	2			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr6:32188296C>T	uc003obb.3	-	5	1184	c.1045G>A	c.(1045-1047)Ggc>Agc	p.G349S	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.G349S	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	349	EGF-like 8; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CAGCTTGTGCCGCCCCAGCCA	0.617													44	87					0	0	0.042209	0	0	T	32188296	C	T	32188296	3	4	137	1	0	0	0	0	1	0	0	0	10551	652	23	2	5066	2	NOTCH4	6	32188296	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	5724752	32188296	138926771	29	6225											
UNC5CL	222643	broad.mit.edu	37	chr6	41002808	41002808	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggaatgaactctcctggggGcacattcgcctggttactca	8	11	11	11	1	2	1	1	1	1	0	4	2	2	2	2	4	2	2	2	4	3	2			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr6:41002808G>A	uc003opi.3	-	1	105	c.6C>T	c.(4-6)tgC>tgT	p.C2C	UNC5CL_uc010jxe.1_Silent_p.C2C	NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	Homo sapiens unc-5 homolog C (C. elegans)-like (UNC5CL), mRNA.	2					signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCTCCTGGGGGCACATTCGCC	0.602													4	67					0	0	0.009096	0	0	A	41002808	G	A	41002808	2	1	137	1	0	0	0	0	0	0	0	1	16991	1195	42	3		3	UNC5CL	6	41002808	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08	8814512	41002808	130112259	30	6226											
DPY19L1	23333	broad.mit.edu	37	chr7	34978935	34978935	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattcacaatgggccgaagTgcagagagcttaacacttgc	12	9	11	9	1	1	2	1	1	0	1	1	4	1	2	1	1	4	2	1	1	3	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:34978935T>A	uc003tem.4	-	19	1843	c.1698A>T	c.(1696-1698)gcA>gcT	p.A566A	DPY19L1_uc003tel.1_5'Flank	NM_015283	NP_056098	Q2PZI1	D19L1_HUMAN	Homo sapiens dpy-19-like 1 (C. elegans) (DPY19L1), mRNA.	566						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TGGGCCGAAGTGCAGAGAGCT	0.502													36	90					0	0	0.086207	0	0	A	34978935	T	A	34978935	2	1	137	1	0	0	0	0	0	0	0	1	4740	1683	59	5		5	DPY19L1	7	34978935	Silent	SNP	T	TCGA-FG-6692-01A-11D-1893-08		34978935	124159728	31	6227											
UBE2D4	51619	broad.mit.edu	37	chr7	43990260	43990260	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaccccctggtgccagagAtagcacacacctacaaggcc	12	5	9	15	0	0	2	0	1	0	1	0	3	0	2	5	2	3	1	5	2	3	2			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:43990260A>G	uc003tja.2	+	5	464	c.367A>G	c.(367-369)Ata>Gta	p.I123V	POLR2J4_uc003tjc.2_Intron|UBE2D4_uc003tjb.2_Missense_Mutation_p.I85V	NM_015983	NP_057067	Q9Y2X8	UB2D4_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2D 4 (putative) (UBE2D4), mRNA.	123					protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)	5						GGTGCCAGAGATAGCACACAC	0.572													21	72					0	0	0.062417	0	0	G	43990260	A	G	43990260	3	3	137	1	0	0	0	0	1	0	0	0	16848	333	12	3	389	3	UBE2D4	7	43990260	Missense_Mutation	SNP	A	TCGA-FG-6692-01A-11D-1893-08	9011325	43990260	115148403	32	6228											
DDX56	54606	broad.mit.edu	37	chr7	44608558	44608558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccttcaatcttgcctcccGaatggcctgcttagtcactg	6	13	7	15	1	3	0	2	0	1	0	5	1	5	0	4	1	2	1	4	1	3	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:44608558G>A	uc003tlg.3	-	10	1970	c.1327C>T	c.(1327-1329)Cgg>Tgg	p.R443W	DDX56_uc003tlh.3_Non-coding_Transcript|DDX56_uc010kyg.3_Missense_Mutation_p.R403W|DDX56_uc010kyh.1_Non-coding_Transcript	NM_019082	NP_061955	Q9NY93	DDX56_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 56 (DDX56), mRNA.	443					rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|identical protein binding	p.R443R(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						CTTGCCTCCCGAATGGCCTGC	0.537													66	191					0	0	0.048971	0	0	A	44608558	G	A	44608558	3	1	137	1	0	0	0	0	1	0	0	0	4374	1057	37	2	332	2	DDX56	7	44608558	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	618298	44608558	114530105	33	6229											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:55221822C>T	uc003tqk.3	+	6	1112	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			2177	104					0	0	0.048971	0	0	T	55221822	C	T	55221822	3	4	137	1	0	0	0	0	1	0	0	0	4967	739	26	3	892	3	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	10613264	55221822	103916841	34	6230											
EGFR	1956	broad.mit.edu	37	chr7	55225358	55225358	+	Frame_Shift_Del	DEL	T	T	-																															ctttcatctgccttacagggTttttgctgattcaggcttgg																										TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:55225358delT	uc003tqk.3	+	10	1456	c.1210delT	c.(1210-1212)tttfs	p.F404fs	EGFR_uc003tqi.3_Frame_Shift_Del_p.F404fs|EGFR_uc003tqj.3_Frame_Shift_Del_p.F404fs|EGFR_uc022adm.1_Frame_Shift_Del_p.F404fs|EGFR_uc010kzg.2_Frame_Shift_Del_p.F359fs|EGFR_uc022adn.1_Frame_Shift_Del_p.F359fs|EGFR_uc011kco.2_Frame_Shift_Del_p.F351fs|EGFR_uc011kcp.1_Non-coding_Transcript|EGFR_uc011kcq.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	404					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCTTACAGGGTTTTTGCTGAT	0.448		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			9	2555	---	---	---	---						-	55225358	T	-	55225358	7	5	137	1	0	1	0	1	0	0	0	0	4967	1725	60	0	1263	0	EGFR	7	55225358	Frame_Shift_Del	DEL	T	TCGA-FG-6692-01A-11D-1893-08	3536	55225358	103913305	35	6231											
GRM3	2913	broad.mit.edu	37	chr7	86468867	86468867	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcaagaatggcgctcagagGccaaaattcatcagccccag	13	6	10	12	1	4	2	4	0	0	2	4	2	4	2	3	2	1	1	3	2	4	1			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:86468867G>A	uc003uid.3	+	3	3136	c.2037G>A	c.(2035-2037)agG>agA	p.R679R	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Silent_p.R551R|GRM3_uc010leh.3_Silent_p.R271R	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	679					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GCGCTCAGAGGCCAAAATTCA	0.547													4	127					0	0	0.009096	0	0	A	86468867	G	A	86468867	2	1	137	1	0	0	0	0	0	0	0	1	6798	1194	42	3		3	GRM3	7	86468867	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08	31243509	86468867	72669796	36	6232											
DOCK4	9732	broad.mit.edu	37	chr7	111634282	111634282	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgggaataaccatttcaaAttgtctgtgaaattaaaaaa	18	12	7	4	0	2	1	1	1	1	0	2	2	2	2	1	1	1	0	1	1	7	4			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:111634282A>G	uc003vfy.3	-	4	492	c.223T>C	c.(223-225)Ttt>Ctt	p.F75L	DOCK4_uc003vfx.3_Missense_Mutation_p.F75L|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Missense_Mutation_p.F75L	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	75					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACCATTTCAAATTGTCTGTGA	0.308													34	82					0	0	0.054565	0	0	G	111634282	A	G	111634282	3	3	137	1	0	0	0	0	1	0	0	0	4689	101	4	3	5869	3	DOCK4	7	111634282	Missense_Mutation	SNP	A	TCGA-FG-6692-01A-11D-1893-08	25165415	111634282	47504381	37	6233											
KEL	3792	broad.mit.edu	37	chr7	142655048	142655048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccatttaccagagatgcGccagcctccaagctttaaag	12	9	8	12	1	0	1	0	0	0	1	2	2	2	1	5	0	4	1	5	0	4	4			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:142655048G>A	uc003wcb.3	-	5	748	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	180			R -> P (in KEL24 antigen).		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)					CCAGAGATGCGCCAGCCTCCA	0.517													17	44					0	0	0.0333	0	0	A	142655048	G	A	142655048	3	1	137	1	0	0	0	0	1	0	0	0	8142	1087	38	1	1716	1	KEL	7	142655048	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	31020766	142655048	16483615	38	6234											
GIMAP4	55303	broad.mit.edu	37	chr7	150269789	150269789	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttgctgggcctgatccagCgcgtggtgagggagaacaag	9	7	17	8	2	0	3	0	2	0	1	1	4	1	3	2	3	3	2	2	3	2	1			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:150269789C>T	uc003whl.3	+	2	713	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C	GIMAP4_uc011kuu.2_Missense_Mutation_p.R72C|GIMAP4_uc011kuv.2_Missense_Mutation_p.R225C	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	211							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTGATCCAGCGCGTGGTGAG	0.542													53	113					0	0	0.048971	0	0	T	150269789	C	T	150269789	3	4	137	1	0	0	0	0	1	0	0	0	6381	768	27	1	637	1	GIMAP4	7	150269789	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	7614741	150269789	8868874	39	6235											
BLK	640	broad.mit.edu	37	chr8	11414294	11414294	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcggctggtccgactctaCgcagtggtcaccaaggagcc	8	6	14	13	3	2	0	1	0	1	0	3	3	3	1	3	4	3	2	3	4	2	1	rs139994406	by1000genomes	TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr8:11414294C>T	uc003wty.3	+	8	1481	c.900C>T	c.(898-900)taC>taT	p.Y300Y		NM_001715	NP_001706	P51451	BLK_HUMAN	Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.	300	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	p.Y300Y(2)		endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		TCCGACTCTACGCAGTGGTCA	0.617													28	40					0	0	0.037714	0	0	T	11414294	C	T	11414294	2	4	137	1	0	0	0	0	0	0	0	1	1444	547	19	1		1	BLK	8	11414294	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08		11414294	134949728	40	6236											
RP1	6101	broad.mit.edu	37	chr8	55538303	55538303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttttcaagtaataactctGgaactgacaaaaatatttct	16	15	4	6	0	3	1	1	1	2	0	3	2	3	2	0	1	2	1	0	1	7	6			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr8:55538303G>A	uc003xsd.1	+	3	2009	c.1861G>A	c.(1861-1863)Gga>Aga	p.G621R	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	621					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.S620Y(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TAATAACTCTGGAACTGACAA	0.373													24	33					0	0	0.083992	0	0	A	55538303	G	A	55538303	3	1	137	1	0	0	0	0	1	0	0	0	13532	1349	47	3	1871	3	RP1	8	55538303	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	44124009	55538303	90825719	41	6237											
PSKH2	85481	broad.mit.edu	37	chr8	87081703	87081703	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcgaacttggctcggaagCgagccacctgtatcctctgc	7	9	12	13	3	1	0	0	0	1	0	4	3	2	1	3	3	4	2	3	3	3	2			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr8:87081703C>T	uc011lfy.2	-	0	149	c.149G>A	c.(148-150)cGc>cAc	p.R50H		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	Homo sapiens protein serine kinase H2 (PSKH2), mRNA.	50							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			GGCTCGGAAGCGAGCCACCTG	0.672													11	19					0	0	0.09319	0	0	T	87081703	C	T	87081703	3	4	137	1	0	0	0	0	1	0	0	0	12665	768	27	1	1018	1	PSKH2	8	87081703	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	31543400	87081703	59282319	42	6238											
COL14A1	7373	broad.mit.edu	37	chr8	121238908	121238908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttagaaattgatgaggtgaCgacagacagttttagggtga	13	11	13	4	1	0	6	0	4	0	2	0	7	0	6	0	2	0	1	0	2	3	4			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr8:121238908C>T	uc003yox.3	+	15	2172	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M	COL14A1_uc003yoy.3_Missense_Mutation_p.T314M	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	636	Fibronectin type-III 5.		T -> A (in dbSNP:rs56815167).		cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GATGAGGTGACGACAGACAGT	0.483													23	39					0	0	0.069288	0	0	T	121238908	C	T	121238908	3	4	137	1	0	0	0	0	1	0	0	0	3671	536	19	1	1965	1	COL14A1	8	121238908	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	34157205	121238908	25125114	43	6239											
COL22A1	169044	broad.mit.edu	37	chr8	139895346	139895346	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccgctgagcctggcagcCgccgcccccactccacagca	6	4	10	21	3	0	1	0	1	0	0	1	1	1	1	7	1	4	3	7	1	0	0			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr8:139895346C>T	uc003yvd.3	-	1	517	c.70G>A	c.(70-72)Ggc>Agc	p.G24S		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	24					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCCTGGCAGCCGCCGCCCCCA	0.672										HNSCC(7;0.00092)			3	7					0	0	0.014758	0	0	T	139895346	C	T	139895346	3	4	137	1	0	0	0	0	1	0	0	0	3681	652	23	2	5066	2	COL22A1	8	139895346	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	18656438	139895346	6468676	44	6240											
SYK	6850	broad.mit.edu	37	chr9	93606246	93606246	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttttcggcaacatcacccgGgaggaggcagaagattacct	11	9	11	10	2	1	2	1	0	0	2	2	4	1	4	2	4	2	2	2	4	3	3	rs139401525	by1000genomes	TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr9:93606246G>A	uc004aqz.3	+	1	271	c.66G>A	c.(64-66)cgG>cgA	p.R22R	SYK_uc004ara.3_Silent_p.R22R|SYK_uc004arb.3_Silent_p.R22R|SYK_uc004arc.3_Silent_p.R22R|SYK_uc011ltt.2_Non-coding_Transcript|SYK_uc011ltr.2_Non-coding_Transcript|SYK_uc011lts.2_Non-coding_Transcript	NM_003177	NP_003168	P43405	KSYK_HUMAN	Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA.	22	SH2 1.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	T cell receptor complex|cytosol	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						ACATCACCCGGGAGGAGGCAG	0.632			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"								10	16					0	0	0.058154	0	0	A	93606246	G	A	93606246	2	1	137	1	0	0	0	0	0	0	0	1	15435	1219	43	3		3	SYK	9	93606246	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08		93606246	47607185	45	6241											
PTEN	5728	broad.mit.edu	37	chr10	89624305	89624305	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcgacttagacttgaccTgtatccatttctgcggctgc	7	14	9	11	2	1	2	0	1	1	1	3	4	2	2	2	1	2	2	2	1	2	5			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr10:89624305T>G	uc001kfb.3	+	1	1111	c.79_splice	c.e1+1	p.Y27_splice	PTEN_uc021pvw.1_Splice_Site|KLLN_uc009xti.3_5'Flank	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	27	Phosphatase tensin-type.		Y -> S (loss of phosphatase activity towards Ins(1,3,4,5)P4).		T cell receptor signaling pathway|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 G1/S transition of mitotic cell cycle|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 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	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion 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.0?(37)|p.?(13)|p.Y27D(2)|p.Y27N(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)		AGACTTGACCTGTATCCATTT	0.463		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)			42	25					0	0	0.104719	0	0	G	89624305	T	G	89624305	5	3	137	1	0	0	0	0	0	0	1	0	12738	1594	55	5	81	5	PTEN	10	89624305	Splice_Site	SNP	T	TCGA-FG-6692-01A-11D-1893-08		89624305	45910442	46	6242											
MYOF	26509	broad.mit.edu	37	chr10	95070355	95070355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcccggctggcctctcgtCggcctccttctcgttgagga	2	12	11	16	4	2	1	0	1	2	0	7	2	4	2	4	4	0	2	4	4	0	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr10:95070355C>T	uc001kin.3	-	51	6058	c.5935G>A	c.(5935-5937)Gac>Aac	p.D1979N	MYOF_uc001kio.3_Missense_Mutation_p.D1966N|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1979					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GGCCTCTCGTCGGCCTCCTTC	0.493													39	15					0	0	0.048971	0	0	T	95070355	C	T	95070355	3	4	137	1	0	0	0	0	1	0	0	0	10089	884	31	2	262	2	MYOF	10	95070355	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	5446050	95070355	40464392	47	6243											
DUSP5	1847	broad.mit.edu	37	chr10	112262482	112262482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttgtttgtttttgtaggggGatatgagactttctactcgg	6	19	12	4	1	1	1	0	1	1	1	2	3	1	2	0	3	1	3	0	3	3	8			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr10:112262482G>A	uc001kzd.3	+	1	638	c.383G>A	c.(382-384)gGa>gAa	p.G128E		NM_004419	NP_004410	Q16690	DUS5_HUMAN	Homo sapiens dual specificity phosphatase 5 (DUSP5), mRNA.	128	Rhodanese.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		TTTGTAGGGGGATATGAGACT	0.408													42	19					0	0	0.11126	0	0	A	112262482	G	A	112262482	3	1	137	1	0	0	0	0	1	0	0	0	4828	1174	41	3	389	3	DUSP5	10	112262482	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	17192127	112262482	23272265	48	6244											
DEAF1	10522	broad.mit.edu	37	chr11	686996	686996	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgcaccgtccccggccGcctgcaaggaagggcagcag	8	5	14	14	3	0	1	0	1	0	0	1	2	1	2	5	3	3	4	5	3	2	1			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr11:686996G>A	uc001lqq.1	-	5	1358	c.665_splice	c.e5-1	p.G222_splice	DEAF1_uc009ycf.1_Splice_Site|DEAF1_uc021qbn.1_Intron	NM_021008	NP_066288	O75398	DEAF1_HUMAN	Homo sapiens deformed epidermal autoregulatory factor 1 (Drosophila) (DEAF1), mRNA.	222	SAND.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GTCCCCGGCCGCCTGCAAGGA	0.607													7	49					0	0	0.069234	0	0	A	686996	G	A	686996	5	1	137	1	0	0	0	0	0	0	1	0	4380	1101	38	1	1063	1	DEAF1	11	686996	Splice_Site	SNP	G	TCGA-FG-6692-01A-11D-1893-08		686996	134319520	49	6245											
KCNA4	3739	broad.mit.edu	37	chr11	30033223	30033223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccatgacgagatccctgtCgtccctaaactcaggcaagg	10	8	10	13	2	1	2	1	1	0	1	4	3	3	2	3	2	2	1	3	2	3	1			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr11:30033223C>T	uc021qfi.1	-	0	1003	c.1003G>A	c.(1003-1005)Gac>Aac	p.D335N	KCNA4_uc001msk.3_Missense_Mutation_p.D335N	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	335						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.D335N(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						AGATCCCTGTCGTCCCTAAAC	0.517													40	50					0	0	0.092188	0	0	T	30033223	C	T	30033223	3	4	137	1	0	0	0	0	1	0	0	0	8005	884	31	2	962	2	KCNA4	11	30033223	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	29346227	30033223	104973293	50	6246											
OR4X2	119764	broad.mit.edu	37	chr11	48266712	48266712	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggaggtgcagagggtttgCtttgtgatatttctgttctt	6	17	13	5	0	2	2	0	1	2	1	2	3	2	3	0	3	2	4	0	3	1	6			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr11:48266712C>T	uc001ngs.1	+	0	57	c.57C>T	c.(55-57)tgC>tgT	p.C19C		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AGAGGGTTTGCTTTGTGATAT	0.448													58	87					0	0	0.048971	0	0	T	48266712	C	T	48266712	2	4	137	1	0	0	0	0	0	0	0	1	11085	805	28	3		3	OR4X2	11	48266712	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08	18233489	48266712	86739804	51	6247											
OR4X1	390113	broad.mit.edu	37	chr11	48286042	48286042	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctccgtagtcagtttcttCgtgctgatggcttcctacct	5	16	8	12	2	3	1	1	1	2	0	6	1	4	1	3	1	2	4	3	1	2	5			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr11:48286042C>T	uc010rht.2	+	0	630	c.630C>T	c.(628-630)ttC>ttT	p.F210F		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TCAGTTTCTTCGTGCTGATGG	0.562													30	39					0	0	0.045705	0	0	T	48286042	C	T	48286042	2	4	137	1	0	0	0	0	0	0	0	1	11084	883	31	2		2	OR4X1	11	48286042	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08	19330	48286042	86720474	52	6248											
WNT11	7481	broad.mit.edu	37	chr11	75898143	75898143	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgctccacggtacgctcaCacctgcggcaggtgacgtag	8	6	13	14	5	1	1	1	1	0	0	2	1	2	1	2	3	3	5	2	3	2	2			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr11:75898143C>A	uc001oxe.3	-	4	1154	c.1031G>T	c.(1030-1032)tGt>tTt	p.C344F		NM_004626	NP_004617	O96014	WNT11_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 11 (WNT11), mRNA.	344					Wnt receptor signaling pathway, calcium modulating pathway|adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|Ras GTPase activator activity|protein kinase activator activity|transcription regulatory region DNA binding	p.C344Y(4)|p.R343R(1)		breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						GGTACGCTCACACCTGCGGCA	0.642													33	38					1.62565e-12	1.83955e-12	0.050027	1	0	A	75898143	C	A	75898143	3	1	137	1	0	0	0	0	1	0	0	0	17381	478	17	5	37	5	WNT11	11	75898143	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	27612101	75898143	59108373	53	6249											
A2M	2	broad.mit.edu	37	chr12	9246146	9246146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcaacatgcaccaggcGtgcatggcctcttcccatta	8	11	7	15	1	3	0	1	0	2	0	4	0	4	0	3	2	3	2	3	2	2	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr12:9246146G>A	uc001qvk.1	-	17	2268	c.2155C>T	c.(2155-2157)Cgc>Tgc	p.R719C	A2M_uc009zgk.1_Missense_Mutation_p.R569C	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	719	Bait region.|Inhibitory.				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TGCACCAGGCGTGCATGGCCT	0.443													23	22					0	0	0.069288	0	0	A	9246146	G	A	9246146	3	1	137	1	0	0	0	0	1	0	0	0	4	1145	40	1	2345	1	A2M	12	9246146	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08		9246146	124605749	54	6250											
EP400	57634	broad.mit.edu	37	chr12	132466657	132466657	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggaatgccccccacgccGcaggccgcgcagctcgctgg	6	3	15	17	5	0	0	0	0	0	0	1	2	0	2	5	4	2	4	5	4	1	0			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr12:132466657G>T	uc001ujn.3	+	4	1715	c.1563G>T	c.(1561-1563)ccG>ccT	p.P521P	EP400_uc021rgq.1_Silent_p.P520P|EP400_uc001ujm.3_Silent_p.P521P|EP400_uc001ujj.2_Silent_p.P484P|EP400_uc001ujk.3_Silent_p.P557P	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	557					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCCCCACGCCGCAGGCCGCGC	0.592													100	176					6.09681e-45	7.02221e-45	0.048971	1	0	T	132466657	G	T	132466657	2	4	137	1	0	0	0	0	0	0	0	1	5149	1074	38	5		5	EP400	12	132466657	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08	123220511	132466657	1385238	55	6251											
GJA3	2700	broad.mit.edu	37	chr13	20716908	20716908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggtagagcggcttcagctCgaagccgtacagaaagtact	11	7	13	10	4	1	2	1	0	0	2	2	3	1	2	1	2	5	5	1	2	5	4			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr13:20716908C>T	uc001umx.1	-	1	692	c.520G>A	c.(520-522)Gag>Aag	p.E174K	GJA3_uc021rgz.1_Missense_Mutation_p.E174K	NM_021954	NP_068773	Q9Y6H8	CXA3_HUMAN	Homo sapiens gap junction protein, alpha 3, 46kDa (GJA3), mRNA.	174					cell-cell signaling|visual perception	connexon complex|integral to membrane				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		GGCTTCAGCTCGAAGCCGTAC	0.597													20	45					0	0	0.069288	0	0	T	20716908	C	T	20716908	3	4	137	1	0	0	0	0	1	0	0	0	6402	893	31	2	791	2	GJA3	13	20716908	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08		20716908	94452970	56	6252											
DHRS2	10202	broad.mit.edu	37	chr14	24109024	24109024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggagcactgtgggggcGtcgacttcctggtgtgcagc	4	9	16	12	2	0	0	0	0	0	0	2	2	1	1	2	4	3	2	2	4	0	1	rs146408773		TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:24109024G>A	uc001wkt.4	+	3	787	c.340G>A	c.(340-342)Gtc>Atc	p.V114I	DHRS2_uc010aku.1_Missense_Mutation_p.V114I|DHRS2_uc001wku.4_Missense_Mutation_p.V114I|DHRS2_uc010akv.3_Non-coding_Transcript	NM_182908	NP_878912	Q13268	DHRS2_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 2 (DHRS2), transcript variant 1, mRNA.	92					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CTGTGGGGGCGTCGACTTCCT	0.642													33	40					0	0	0.064281	0	0	A	24109024	G	A	24109024	3	1	137	1	0	0	0	0	1	0	0	0	4490	1145	40	1	350	1	DHRS2	14	24109024	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08		24109024	83240516	57	6253											
LRFN5	145581	broad.mit.edu	37	chr14	42356700	42356700	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcctcctctcattactcGtcatacacatgagatgagag	11	11	8	11	1	2	3	2	3	1	2	5	5	3	3	2	0	3	0	2	0	2	2			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:42356700G>A	uc001wvm.3	+	2	2070	c.872G>A	c.(871-873)cGt>cAt	p.R291H	LRFN5_uc010ana.3_Missense_Mutation_p.R291H	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	291	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTCATTACTCGTCATACACAT	0.488										HNSCC(30;0.082)			49	64					0	0	0.045515	0	0	A	42356700	G	A	42356700	3	1	137	1	0	0	0	0	1	0	0	0	8941	1145	40	1	874	1	LRFN5	14	42356700	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	18247676	42356700	64992840	58	6254											
FSCB	84075	broad.mit.edu	37	chr14	44975176	44975176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctacagaaggagactcttCagctgatggaggctgaattt	11	11	11	8	0	3	4	1	2	2	2	3	6	3	5	0	3	2	2	0	3	3	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:44975176C>T	uc001wvn.3	-	0	1324	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	339	Pro-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)		GGAGACTCTTCAGCTGATGGA	0.517													41	77					0	0	0.092188	0	0	T	44975176	C	T	44975176	3	4	137	1	0	0	0	0	1	0	0	0	6066	835	29	3	1466	3	FSCB	14	44975176	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	2618476	44975176	62374364	59	6255											
PRPF39	55015	broad.mit.edu	37	chr14	45583422	45583422	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgaacatcaaacactcctGaaagaacaggattctttaaa	18	9	6	8	0	2	3	1	2	1	1	3	5	3	4	1	1	3	0	1	1	6	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:45583422G>A	uc001wvz.4	+	11	1964	c.1794G>A	c.(1792-1794)ctG>ctA	p.L598L	PRPF39_uc001wvy.4_Silent_p.L477L|PRPF39_uc010and.3_Silent_p.L388L|PRPF39_uc001wwa.1_Silent_p.L202L	NM_017922	NP_060392	Q86UA1	PRP39_HUMAN	Homo sapiens PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae) (PRPF39), mRNA.	598					RNA splicing|mRNA processing	nucleus	binding			breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						AAACACTCCTGAAAGAACAGG	0.318													21	34					0	0	0.069288	0	0	A	45583422	G	A	45583422	2	1	137	1	0	0	0	0	0	0	0	1	12569	1277	45	3		3	PRPF39	14	45583422	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08	608246	45583422	61766118	60	6256											
LTBP2	4053	broad.mit.edu	37	chr14	74969480	74969480	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctcagggacggtgtcctcGgggcccaggtagttgtagaa	7	8	17	9	2	1	1	1	0	0	1	3	2	2	2	2	6	0	4	2	6	3	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:74969480G>A	uc001xqa.3	-	33	5433	c.5046C>T	c.(5044-5046)ccC>ccT	p.P1682P		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1682					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.P1682H(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CGGTGTCCTCGGGGCCCAGGT	0.632													59	89					0	0	0.048971	0	0	A	74969480	G	A	74969480	2	1	137	1	0	0	0	0	0	0	0	1	9074	1103	39	2		2	LTBP2	14	74969480	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08	29386058	74969480	32380060	61	6257											
KCNK10	54207	broad.mit.edu	37	chr14	88652407	88652407	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcccgctgcagcttatcGtggatctccacgctgagcct	5	9	11	16	4	1	1	0	1	1	0	3	2	1	2	4	1	3	4	4	1	1	1			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:88652407G>A	uc001xwm.3	-	6	1226	c.1104C>T	c.(1102-1104)caC>caT	p.H368H	KCNK10_uc001xwn.3_Silent_p.H368H|KCNK10_uc001xwo.3_Silent_p.H363H	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	363					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.R368W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GCAGCTTATCGTGGATCTCCA	0.662													21	19					0	0	0.055883	0	0	A	88652407	G	A	88652407	2	1	137	1	0	0	0	0	0	0	0	1	8059	1136	40	1		1	KCNK10	14	88652407	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08	13682927	88652407	18697133	62	6258											
VRK1	7443	broad.mit.edu	37	chr14	97326941	97326941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaaattactagactacactGaaaaacctctttatgaaaat	18	12	4	7	0	1	4	0	3	1	1	1	4	1	4	1	0	3	0	1	0	9	5			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:97326941G>A	uc001yft.3	+	10	1043	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K		NM_003384	NP_003375	Q99986	VRK1_HUMAN	Homo sapiens vaccinia related kinase 1 (VRK1), mRNA.	313	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		AGACTACACTGAAAAACCTCT	0.323													14	20					0	0	0.020292	0	0	A	97326941	G	A	97326941	3	1	137	1	0	0	0	0	1	0	0	0	17216	1291	45	3	975	3	VRK1	14	97326941	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	8674534	97326941	10022599	63	6259											
SIVA1	10572	broad.mit.edu	37	chr14	105222095	105222095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggccccgagggctgcaCgtgggcagatgctgattgga	7	6	18	10	2	0	2	0	1	0	1	0	4	0	3	2	5	2	4	2	5	0	1			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:105222095C>T	uc001yph.3	+	1	316	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	SIVA1_uc010tyj.1_Missense_Mutation_p.R83C|SIVA1_uc001ypg.1_Missense_Mutation_p.R83C|SIVA1_uc001ypi.3_Intron|SIVA1_uc021sel.1_5'Flank	NM_006427	NP_006418	O15304	SIVA_HUMAN	Homo sapiens SIVA1, apoptosis-inducing factor (SIVA1), transcript variant 1, mRNA.	83					activation of caspase activity by cytochrome c|activation-induced cell death of T cells|apoptosis|induction of apoptosis|interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|negative regulation of anti-apoptosis	cytoplasm|mitochondrion|nucleoplasm|nucleus	CD27 receptor binding|caspase activator activity|metal ion binding|viral receptor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)		GAGGGCTGCACGTGGGCAGAT	0.667													16	25					0	0	0.028581	0	0	T	105222095	C	T	105222095	3	4	137	1	0	0	0	0	1	0	0	0	14345	536	19	1	253	1	SIVA1	14	105222095	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	7895154	105222095	2127445	64	6260											
NDN	4692	broad.mit.edu	37	chr15	23932258	23932258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcggctctgccagggtcGcggacggaggaaccccctcc	5	6	14	16	4	2	0	0	0	2	0	4	3	3	3	4	5	3	1	4	5	1	0			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr15:23932258G>A	uc001ywk.3	-	0	193	c.107C>T	c.(106-108)gCg>gTg	p.A36V		NM_002487	NP_002478	Q99608	NECD_HUMAN	Homo sapiens necdin homolog (mouse) (NDN), mRNA.	36					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TGCCAGGGTCGCGGACGGAGG	0.701									Prader-Willi syndrome				11	15					0	0	0.069234	0	0	A	23932258	G	A	23932258	3	1	137	1	0	0	0	0	1	0	0	0	10247	1087	38	1	862	1	NDN	15	23932258	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08		23932258	78599134	65	6261											
E4F1	1877	broad.mit.edu	37	chr16	2282496	2282496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatggtcactcacagcagcCgcaaggaccacgagtgcaag	13	4	11	13	2	2	0	2	0	0	0	2	2	2	1	2	2	3	3	2	2	2	0	rs144383218		TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr16:2282496C>T	uc002cpm.3	+	4	697	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	E4F1_uc010bsi.3_Missense_Mutation_p.R217C|E4F1_uc010bsj.3_Missense_Mutation_p.R217C	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	Homo sapiens E4F transcription factor 1 (E4F1), mRNA.	217	Mediates dimerization, DNA-binding, transcription repression of CCNA2 and interaction with HMGA2.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						TCACAGCAGCCGCAAGGACCA	0.697													14	19					0	0	0.028581	0	0	T	2282496	C	T	2282496	3	4	137	1	0	0	0	0	1	0	0	0	4874	652	23	2	667	2	E4F1	16	2282496	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08		2282496	88072257	66	6262											
ITGAD	3681	broad.mit.edu	37	chr16	31405625	31405625	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttccaggaggatgcaggcGgctttgggcagagcgtggtg	6	9	18	8	2	1	1	0	0	1	1	2	3	2	3	1	6	2	3	1	6	0	2			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr16:31405625G>A	uc010cap.1	+	1	149	c.100G>A	c.(100-102)Ggc>Agc	p.G34S	ITGAD_uc010vfl.1_Missense_Mutation_p.G34S|ITGAD_uc002ebv.1_Missense_Mutation_p.G34S	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	34					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.G34C(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGATGCAGGCGGCTTTGGGCA	0.582													18	42					0	0	0.043863	0	0	A	31405625	G	A	31405625	3	1	137	1	0	0	0	0	1	0	0	0	7884	1116	39	2	106	2	ITGAD	16	31405625	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	29123129	31405625	58949128	67	6263											
JPH3	57338	broad.mit.edu	37	chr16	87678021	87678021	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacggcgctgcatcccgaCgcctctccggcggtggccgg	3	5	16	17	7	1	0	0	0	1	0	3	1	2	0	4	6	1	3	4	6	0	0			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr16:87678021C>T	uc002fkd.3	+	1	794	c.540C>T	c.(538-540)gaC>gaT	p.D180D	JPH3_uc010vou.1_Non-coding_Transcript	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	Homo sapiens junctophilin 3 (JPH3), mRNA.	180					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		TGCATCCCGACGCCTCTCCGG	0.697													40	51					0	0	0.092188	0	0	T	87678021	C	T	87678021	2	4	137	1	0	0	0	0	0	0	0	1	7962	535	19	1		1	JPH3	16	87678021	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08	56272396	87678021	2676732	68	6264											
KIAA0664	23277	broad.mit.edu	37	chr17	2600045	2600045	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggcgatggtctctgccAgctccttcaccttggccagg	4	10	12	15	2	2	0	1	0	1	0	4	1	3	0	4	4	3	1	4	4	0	2			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:2600045A>G	uc002fuy.1	-	10	2125	c.2039T>C	c.(2038-2040)cTg>cCg	p.L680P	KIAA0664_uc002fux.1_Missense_Mutation_p.L612P|KIAA0664_uc010ckc.1_5'Flank	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	680							binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						GGTCTCTGCCAGCTCCTTCAC	0.672													16	28					0	0	0.043863	0	0	G	2600045	A	G	2600045	3	3	137	1	0	0	0	0	1	0	0	0	8189	188	7	4	1954	4	KIAA0664	17	2600045	Missense_Mutation	SNP	A	TCGA-FG-6692-01A-11D-1893-08		2600045	78595165	69	6265											
FAM64A	54478	broad.mit.edu	37	chr17	6348675	6348675	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagccaggtcagcagggccTccaggctgcagctcgctcag	8	5	14	14	1	2	1	2	0	0	1	4	1	3	1	3	3	4	5	3	3	0	0			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:6348675T>C	uc002gcw.2	+	1	354	c.245T>C	c.(244-246)cTc>cCc	p.L82P	FAM64A_uc002gcu.2_Missense_Mutation_p.L82P	NM_001195228	NP_001182157	Q9BSJ6	FA64A_HUMAN	Homo sapiens family with sequence similarity 64, member A (FAM64A), transcript variant 2, mRNA.	82						nucleolus	protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				COAD - Colon adenocarcinoma(228;0.141)		CAGCAGGGCCTCCAGGCTGCA	0.577													40	43					0	0	0.048971	0	0	C	6348675	T	C	6348675	3	2	137	1	0	0	0	0	1	0	0	0	5598	1551	54	4	247	4	FAM64A	17	6348675	Missense_Mutation	SNP	T	TCGA-FG-6692-01A-11D-1893-08	3748630	6348675	74846535	70	6266											
MYH8	4626	broad.mit.edu	37	chr17	10297737	10297737	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccttgaggtcctcctggccCcggagagcatcatccaggtg	6	9	12	14	1	1	2	1	1	0	1	5	3	5	2	6	4	1	1	6	4	0	1			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:10297737C>T	uc002gmm.2	-	34	5090	c.4995G>A	c.(4993-4995)cgG>cgA	p.R1665R	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1665					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.R1665R(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCTCCTGGCCCCGGAGAGCAT	0.532									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				30	39					0	0	0.034045	0	0	T	10297737	C	T	10297737	2	4	137	1	0	0	0	0	0	0	0	1	10041	610	22	3		3	MYH8	17	10297737	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08	3949062	10297737	70897473	71	6267											
RNF112	7732	broad.mit.edu	37	chr17	19316707	19316707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagccaccccttcttgctgGggaaagaagggaagaaggtg	11	6	16	8	0	1	2	0	0	1	2	1	5	1	5	3	5	2	1	3	5	4	2			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:19316707G>A	uc010vyw.2	+	4	934	c.703G>A	c.(703-705)Ggg>Agg	p.G235R	RNF112_uc010vyu.2_3'UTR|RNF112_uc021tsa.1_Non-coding_Transcript|RNF112_uc010vyx.1_Missense_Mutation_p.G118R	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	Homo sapiens ring finger protein 112 (RNF112), mRNA.	235							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CTTCTTGCTGGGGAAAGAAGG	0.627													21	27					0	0	0.062417	0	0	A	19316707	G	A	19316707	3	1	137	1	0	0	0	0	1	0	0	0	13426	1232	43	3	431	3	RNF112	17	19316707	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	9018970	19316707	61878503	72	6268											
NAGLU	4669	broad.mit.edu	37	chr17	40695945	40695945	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccgatttctacgagcagAacagccgctaccagctgacc	11	6	10	14	3	1	2	0	1	1	1	1	4	1	2	4	1	6	3	4	1	3	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:40695945A>G	uc002hzv.3	+	5	2261	c.1921A>G	c.(1921-1923)Aac>Gac	p.N641D		NM_000263	NP_000254	P54802	ANAG_HUMAN	Homo sapiens N-acetylglucosaminidase, alpha (NAGLU), mRNA.	641						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CTACGAGCAGAACAGCCGCTA	0.627													9	9					0	0	0.047766	0	0	G	40695945	A	G	40695945	3	3	137	1	0	0	0	0	1	0	0	0	10143	246	9	3	1943	3	NAGLU	17	40695945	Missense_Mutation	SNP	A	TCGA-FG-6692-01A-11D-1893-08	21379238	40695945	40499265	73	6269											
MPO	4353	broad.mit.edu	37	chr17	56355470	56355470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggaagaacgggatgcagtCggcttggttcttgatgcggg	7	9	18	7	4	1	2	0	1	1	1	2	4	1	4	0	5	3	3	0	5	2	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:56355470C>T	uc002ivu.1	-	6	1099	c.922G>A	c.(922-924)Gac>Aac	p.D308N		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	308					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)	GGGATGCAGTCGGCTTGGTTC	0.622													34	66					0	0	0.074837	0	0	T	56355470	C	T	56355470	3	4	137	1	0	0	0	0	1	0	0	0	9732	884	31	2	1339	2	MPO	17	56355470	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	15659525	56355470	24839740	74	6270											
BZRAP1	9256	broad.mit.edu	37	chr17	56402928	56402928	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgagcctggcctgcagctcCctgcactcccgctgcaaggc	5	7	12	17	1	0	1	0	1	0	0	2	1	2	1	4	2	5	5	4	2	1	0			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:56402928C>T	uc002ivx.4	-	3	1588	c.717G>A	c.(715-717)agG>agA	p.R239R	BZRAP1_uc010dcs.3_Intron|BZRAP1_uc010wnt.2_Silent_p.R239R|LOC100506779_uc021uan.1_Non-coding_Transcript	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	239						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTGCAGCTCCCTGCACTCCC	0.657													25	26					0	0	0.099896	0	0	T	56402928	C	T	56402928	2	4	137	1	0	0	0	0	0	0	0	1	1577	622	22	3		3	BZRAP1	17	56402928	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08	47458	56402928	24792282	75	6271											
KCNJ2	3759	broad.mit.edu	37	chr17	68171691	68171691	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaatcgtgggctgcatcAtcgatgctttcatcattggc	8	13	10	10	2	4	0	4	0	0	0	6	1	4	0	0	2	2	3	0	2	1	2	rs150326473		TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:68171691A>G	uc010dfg.3	+	1	912	c.511A>G	c.(511-513)Atc>Gtc	p.I171V	KCNJ2_uc002jir.3_Missense_Mutation_p.I171V|KCNJ2_uc021ucj.1_Missense_Mutation_p.I171V	NM_000891	NP_000882	P63252	IRK2_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 2 (KCNJ2), mRNA.	171					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					GGGCTGCATCATCGATGCTTT	0.483													71	102					0	0	0.048971	0	0	G	68171691	A	G	68171691	3	3	137	1	0	0	0	0	1	0	0	0	8051	217	8	3	513	3	KCNJ2	17	68171691	Missense_Mutation	SNP	A	TCGA-FG-6692-01A-11D-1893-08	11768763	68171691	13023519	76	6272											
CANT1	124583	broad.mit.edu	37	chr17	76991223	76991223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttctcgttcaccacatcacCcgtagtggtcgtccactcct	6	12	7	16	3	3	0	2	0	1	0	7	0	5	0	4	1	0	3	4	1	1	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:76991223C>T	uc002jwj.3	-	2	1207	c.712G>A	c.(712-714)Ggt>Agt	p.G238S	CANT1_uc002jwn.3_Missense_Mutation_p.G238S|CANT1_uc002jwk.3_Missense_Mutation_p.G238S|CANT1_uc002jwl.2_Intron	NM_138793	NP_620148	Q8WVQ1	CANT1_HUMAN	Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 1, mRNA.	238					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi cisterna membrane|endoplasmic reticulum membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			ACCACATCACCCGTAGTGGTC	0.627			T	ETV4	prostate								18	24					0	0	0.0333	0	0	T	76991223	C	T	76991223	3	4	137	1	0	0	0	0	1	0	0	0	2617	623	22	3	501	3	CANT1	17	76991223	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	8819532	76991223	4203987	77	6273											
RNF213	57674	broad.mit.edu	37	chr17	78354716	78354716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catgtgaccgagggctgcccCcagtggtcttcctccttatc	5	11	10	15	1	1	1	0	1	1	0	4	2	3	1	5	2	1	1	5	2	1	2			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:78354716C>T	uc002jyh.2	+	56	14016	c.13873C>T	c.(13873-13875)Cca>Tca	p.P4625S	RNF213_uc021uen.1_Missense_Mutation_p.P4576S|LOC100294362_uc002jyi.2_Intron	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGGGCTGCCCCCAGTGGTCTT	0.597													139	237					0	0	0.048971	0	0	T	78354716	C	T	78354716	3	4	137	1	0	0	0	0	1	0	0	0	13477	623	22	3	14263	3	RNF213	17	78354716	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	1363493	78354716	2840494	78	6274											
NPLOC4	55666	broad.mit.edu	37	chr17	79526328	79526328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcgcagtggcctgtgcctGgctggttcatgaacgtgcag	5	11	14	11	2	2	1	1	1	1	0	3	1	2	1	2	3	3	4	2	3	1	1			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:79526328G>A	uc002kat.4	-	16	1966	c.1784C>T	c.(1783-1785)cCa>cTa	p.P595L	NPLOC4_uc002kar.3_Non-coding_Transcript|NPLOC4_uc010dic.3_Non-coding_Transcript|NPLOC4_uc002kas.3_3'UTR	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	Homo sapiens nuclear protein localization 4 homolog (S. cerevisiae) (NPLOC4), mRNA.	595					ER-associated protein catabolic process|Golgi organization|cellular membrane fusion	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GCCTGTGCCTGGCTGGTTCAT	0.672													10	10					0	0	0.080935	0	0	A	79526328	G	A	79526328	3	1	137	1	0	0	0	0	1	0	0	0	10586	1348	47	3	46	3	NPLOC4	17	79526328	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	1171612	79526328	1668882	79	6275											
COLEC12	81035	broad.mit.edu	37	chr18	346546	346546	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttagattgctggtcagcGtccgcaggtggtgggctgtg	5	12	16	8	2	1	1	1	0	0	1	2	1	2	1	1	4	2	3	1	4	1	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr18:346546G>A	uc002kkm.3	-	4	1291	c.1076C>T	c.(1075-1077)aCg>aTg	p.T359M		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	Homo sapiens collectin sub-family member 12 (COLEC12), mRNA.	359					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GCTGGTCAGCGTCCGCAGGTG	0.473													35	42					0	0	0.054565	0	0	A	346546	G	A	346546	3	1	137	1	0	0	0	0	1	0	0	0	3712	1145	40	1	1176	1	COLEC12	18	346546	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08		346546	77730702	80	6276											
LPIN2	9663	broad.mit.edu	37	chr18	2940600	2940601	+	Splice_Site	INS	-	-	A																															aagaaatttcaaagatacttINSacgtctctaaaggggaccaa																										TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr18:2940600_2940601insA	uc002klo.3	-	5	937	c.698_splice	c.e5+1	p.T233_splice		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	Homo sapiens lipin 2 (LPIN2), mRNA.	233					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CAAAGATACTTACGTCTCTAAA	0.366													20	47	---	---	---	---						A	2940601	-	A	2940600	8	5	137	1	0	1	1	0	0	0	1	0	8919	1769	61	0		0	LPIN2	18	2940600	Splice_Site	INS	-	TCGA-FG-6692-01A-11D-1893-08	2594054	2940600	75136648	81	6277											
WDR7	23335	broad.mit.edu	37	chr18	54424326	54424326	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaccccactgcaccgtatcGtttggcctcttgtcaagagg	9	10	9	13	2	2	1	1	0	1	1	3	1	2	1	4	2	2	3	4	2	3	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr18:54424326G>A	uc002lgk.1	+	14	2713	c.2502G>A	c.(2500-2502)tcG>tcA	p.S834S	WDR7_uc010dpk.1_Non-coding_Transcript|WDR7_uc002lgl.1_Silent_p.S834S	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	834								p.V833V(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GCACCGTATCGTTTGGCCTCT	0.493													82	127					0	0	0.048971	0	0	A	54424326	G	A	54424326	2	1	137	1	0	0	0	0	0	0	0	1	17317	1132	40	1		1	WDR7	18	54424326	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08	51483726	54424326	23652922	82	6278											
SERPINB7	8710	broad.mit.edu	37	chr18	61449685	61449685	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgacaatcaaggaaatggaAatgtgttcttttcctctctg	12	14	8	7	0	3	1	1	1	2	0	5	3	4	3	1	2	0	1	1	2	4	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr18:61449685A>T	uc002ljl.3	+	1	175	c.79A>T	c.(79-81)Aat>Tat	p.N27Y	SERPINB7_uc002ljm.3_Missense_Mutation_p.N27Y|SERPINB7_uc010xet.2_Missense_Mutation_p.N27Y|SERPINB7_uc010dqg.3_Missense_Mutation_p.N27Y	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	27					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				AGGAAATGGAAATGTGTTCTT	0.507													34	76					0	0	0.064281	0	0	T	61449685	A	T	61449685	3	4	137	1	0	0	0	0	1	0	0	0	14106	14	1	5	81	5	SERPINB7	18	61449685	Missense_Mutation	SNP	A	TCGA-FG-6692-01A-11D-1893-08	7025359	61449685	16627563	83	6279											
ACER1	125981	broad.mit.edu	37	chr19	6312225	6312225	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgctatagccactgcccagGagccacaggatggcgatctc	10	7	11	13	1	1	0	0	0	1	0	2	3	1	2	3	3	4	1	3	3	2	2			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:6312225G>A	uc002mel.2	-	2	363	c.285C>T	c.(283-285)ctC>ctT	p.L95L		NM_133492	NP_597999	Q8TDN7	ACER1_HUMAN	Homo sapiens alkaline ceramidase 1 (ACER1), mRNA.	95						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						CACTGCCCAGGAGCCACAGGA	0.627													40	102					0	0	0.092188	0	0	A	6312225	G	A	6312225	2	1	137	1	0	0	0	0	0	0	0	1	138	1161	41	3		3	ACER1	19	6312225	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08		6312225	52816758	84	6280											
OR1M1	125963	broad.mit.edu	37	chr19	9204448	9204448	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagccatgaggtgcctcaCtacttctgcgacctcactcc	7	9	9	16	1	3	1	2	1	1	0	4	2	4	1	4	2	4	1	4	2	1	2			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:9204448C>T	uc010xkj.2	+	0	528	c.528C>T	c.(526-528)caC>caT	p.H176H		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGGTGCCTCACTACTTCTGCG	0.572													62	173					0	0	0.048971	0	0	T	9204448	C	T	9204448	2	4	137	1	0	0	0	0	0	0	0	1	10968	564	20	3		3	OR1M1	19	9204448	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08	2892223	9204448	49924535	85	6281											
ZNF441	126068	broad.mit.edu	37	chr19	11890886	11890886	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagataatagtcaatgtggaGgaccctttacccagactcaa	15	9	8	9	0	2	2	2	0	0	2	2	4	2	4	2	2	1	0	2	2	6	4			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:11890886G>T	uc010dyj.3	+	3	441	c.247G>T	c.(247-249)Gga>Tga	p.G83*	ZNF441_uc002msn.4_Nonsense_Mutation_p.G39*	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	Homo sapiens zinc finger protein 441 (ZNF441), mRNA.	83					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCAATGTGGAGGACCCTTTAC	0.383													21	71					3.51602e-12	3.94405e-12	0.049695	1	0	T	11890886	G	T	11890886	4	4	137	1	0	0	0	0	0	1	0	0	17911	1001	35	5	261	5	ZNF441	19	11890886	Nonsense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	2686438	11890886	47238097	86	6282											
ZNF431	170959	broad.mit.edu	37	chr19	21366713	21366713	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acataggaaaattcatactaGacagaaaccctacaactgtg	18	8	6	9	0	1	2	1	0	0	2	1	3	1	3	1	1	4	0	1	1	8	5			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:21366713G>C	uc010ecr.2	+	4	1757	c.1610G>C	c.(1609-1611)aGa>aCa	p.R537T	ZNF431_uc002npp.2_Missense_Mutation_p.R536T|ZNF431_uc010ecq.2_Missense_Mutation_p.R445T	NM_133473	NP_597730	Q8TF32	ZN431_HUMAN	Homo sapiens zinc finger protein 431 (ZNF431), mRNA.	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R536G(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						ATTCATACTAGACAGAAACCC	0.323													32	78					0	0	0.050027	0	0	C	21366713	G	C	21366713	3	2	137	1	0	0	0	0	1	0	0	0	17902	942	33	5	1625	5	ZNF431	19	21366713	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	9475827	21366713	37762270	87	6283											
ZNF536	9745	broad.mit.edu	37	chr19	31040141	31040141	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagacagcagcagcgatggCggggacagcctgcagcccac	12	2	14	13	2	0	1	0	0	0	1	0	3	0	2	2	3	6	3	2	3	1	0			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:31040141C>T	uc002nsu.1	+	3	3753	c.3615C>T	c.(3613-3615)ggC>ggT	p.G1205G	ZNF536_uc010edd.1_Silent_p.G1205G	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCAGCGATGGCGGGGACAGCC	0.597													32	70					0	0	0.050027	0	0	T	31040141	C	T	31040141	2	4	137	1	0	0	0	0	0	0	0	1	17971	755	27	1		1	ZNF536	19	31040141	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08	9673428	31040141	28088842	88	6284											
LMTK3	114783	broad.mit.edu	37	chr19	49000820	49000820	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgggggccacctccggcCtggctctcgggggcgctggc	1	6	17	17	4	1	0	0	0	1	0	4	0	2	0	5	7	0	2	5	7	0	0			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:49000820C>T	uc002pjk.3	-	11	3593	c.3593G>A	c.(3592-3594)aGg>aAg	p.R1198K		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CACCTCCGGCCTGGCTCTCGG	0.761													5	19					0	0	0.021553	0	0	T	49000820	C	T	49000820	3	4	137	1	0	0	0	0	1	0	0	0	8860	681	24	3	896	3	LMTK3	19	49000820	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	17960679	49000820	10128163	89	6285											
IL4I1	259307	broad.mit.edu	37	chr19	50393077	50393077	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgtcagatgcgtgcccCtcggggctggccgtgtccga	4	9	14	14	4	1	1	1	0	0	1	4	2	3	1	5	3	2	1	5	3	0	0			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:50393077C>T	uc002pqv.2	-	10	2410	c.1581G>A	c.(1579-1581)gaG>gaA	p.E527E	IL4I1_uc002pqt.1_Silent_p.E518E|IL4I1_uc021uxy.1_Silent_p.E540E|IL4I1_uc002pqu.2_Silent_p.E540E|IL4I1_uc010eno.2_Silent_p.E526E	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	Homo sapiens interleukin 4 induced 1 (IL4I1), transcript variant 1, mRNA.	518						lysosome	L-amino-acid oxidase activity	p.E540E(1)		endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		ATGCGTGCCCCTCGGGGCTGG	0.687													19	49					0	0	0.055883	0	0	T	50393077	C	T	50393077	2	4	137	1	0	0	0	0	0	0	0	1	7697	680	24	3		3	IL4I1	19	50393077	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08	1392257	50393077	8735906	90	6286											
SHANK1	50944	broad.mit.edu	37	chr19	51175329	51175329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaggcaggaaagaaggacGctcgtaacttggctgggcac	11	6	16	8	2	0	1	0	0	0	1	1	4	0	4	0	6	1	5	0	6	3	2			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:51175329G>A	uc002psx.1	-	20	2639	c.2620C>T	c.(2620-2622)Cgt>Tgt	p.R874C	SHANK1_uc002psw.1_Missense_Mutation_p.R258C	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	874					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	p.R874C(2)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AAAGAAGGACGCTCGTAACTT	0.577													15	36					0	0	0.038395	0	0	A	51175329	G	A	51175329	3	1	137	1	0	0	0	0	1	0	0	0	14264	1087	38	1	3877	1	SHANK1	19	51175329	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	782252	51175329	7953654	91	6287											
ZNF331	55422	broad.mit.edu	37	chr19	54074900	54074900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tagccatagacttttctcagGaggagtgggcctgtctgaac	9	11	12	9	0	2	2	1	1	2	1	3	4	2	4	2	3	2	0	2	3	3	4			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:54074900G>A	uc002qbx.1	+	5	1486	c.52G>A	c.(52-54)Gag>Aag	p.E18K	ZNF331_uc002qby.1_Missense_Mutation_p.E18K|ZNF331_uc002qbz.1_Missense_Mutation_p.E18K|ZNF331_uc010eqr.1_Missense_Mutation_p.E18K|ZNF331_uc002qca.1_Missense_Mutation_p.E18K|ZNF331_uc021uzg.1_Missense_Mutation_p.E18K|ZNF331_uc021uzh.1_Missense_Mutation_p.E18K|ZNF331_uc002qcb.1_Missense_Mutation_p.E18K|ZNF331_uc002qcc.1_Missense_Mutation_p.E18K|ZNF331_uc002qcd.1_Missense_Mutation_p.E18K	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	18	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		CTTTTCTCAGGAGGAGTGGGC	0.517			T	?	follicular thyroid adenoma								183	475					0	0	0.048971	0	0	A	54074900	G	A	54074900	3	1	137	1	0	0	0	0	1	0	0	0	17846	1175	41	3	58	3	ZNF331	19	54074900	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	2899571	54074900	5054083	92	6288											
CHRDL1	91851	broad.mit.edu	37	chrX	110002887	110002887	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaagagacaaattgctttAcctgggcagcgagggcagca	14	6	13	8	1	0	2	0	0	0	2	0	4	0	2	1	2	4	4	1	2	3	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chrX:110002887A>T	uc004eou.4	-	4	650	c.301_splice	c.e4+1	p.E101_splice	CHRDL1_uc004eov.3_Splice_Site_p.E95_splice|CHRDL1_uc004eow.3_Splice_Site_p.D101_splice|CHRDL1_uc010nps.3_Splice_Site_p.D101_splice|CHRDL1_uc011mss.2_Splice_Site_p.G101_splice	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	Homo sapiens chordin-like 1 (CHRDL1), transcript variant 1, mRNA.	94					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						AAATTGCTTTACCTGGGCAGC	0.473													83	18					0	0	0.048971	0	0	T	110002887	A	T	110002887	5	4	137	1	0	0	0	0	0	0	1	0	3373	405	14	5	1109	5	CHRDL1	23	110002887	Splice_Site	SNP	A	TCGA-FG-6692-01A-11D-1893-08		110002887	45267673	93	6289											
OR10J5	127385	broad.mit.edu	37	chr1	159505463	159505463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccattgcagtaagcaggaagCaattattagtggccaagata	15	9	10	7	0	0	1	0	0	0	1	0	2	0	2	2	2	3	4	2	2	7	5			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr1:159505463C>T	uc010piw.2	-	0	335	c.335G>A	c.(334-336)tGc>tAc	p.C112Y		NM_001004469	NP_001004469	Q8NHC4	O10J5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 5 (OR10J5), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					AAGCAGGAAGCAATTATTAGT	0.468													39	50					0	0	1	0	0	T	159505463	C	T	159505463	3	4	138	1	0	0	0	0	1	0	0	0	10912	710	25	3	596	3	OR10J5	1	159505463	Missense_Mutation	SNP	C	TCGA-FG-7634-01A-11D-2086-08		159505463	89745158	1	6290											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								38	55					0	0	1	0	0	T	209113112	C	T	209113112	3	4	138	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-7634-01A-11D-2086-08		209113112	34086261	2	6291											
GLB1L	79411	broad.mit.edu	37	chr2	220103270	220103270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaatgaatgggcccacgggGgcaaagcaagtctaggaaag	14	5	15	7	1	1	2	0	2	1	0	1	3	1	3	1	4	1	2	1	4	6	1			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr2:220103270G>A	uc002vkm.3	-	12	1413	c.1174C>T	c.(1174-1176)Ccc>Tcc	p.P392S	GLB1L_uc002vkk.3_Missense_Mutation_p.P149S|GLB1L_uc010zkx.2_Missense_Mutation_p.P302S|GLB1L_uc002vkn.3_Missense_Mutation_p.P392S	NM_024506	NP_078782	Q6UWU2	GLB1L_HUMAN	Homo sapiens galactosidase, beta 1-like (GLB1L), mRNA.	392					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCCCACGGGGGCAAAGCAAG	0.448													35	65					0	0	1	0	0	A	220103270	G	A	220103270	3	1	138	1	0	0	0	0	1	0	0	0	6428	1232	43	3	810	3	GLB1L	2	220103270	Missense_Mutation	SNP	G	TCGA-FG-7634-01A-11D-2086-08	10990158	220103270	23096103	3	6292											
ZNF148	7707	broad.mit.edu	37	chr3	124952387	124952387	+	Frame_Shift_Del	DEL	T	T	-																															cagacttctcttactattaaTttttttgagaactaacttag																										TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr3:124952387delT	uc003ehx.4	-	8	1669	c.1183delA	c.(1183-1185)attfs	p.I395fs	SLC12A8_uc003ehw.4_Intron|ZNF148_uc003ehz.4_Frame_Shift_Del_p.I395fs|ZNF148_uc010hsa.3_Frame_Shift_Del_p.I395fs|ZNF148_uc003eia.4_Frame_Shift_Del_p.I395fs|ZNF148_uc003ehy.3_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	Homo sapiens zinc finger protein 148 (ZNF148), mRNA.	395					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TTACTATTAATTTTTTTGAGA	0.383													46	22	---	---	---	---						-	124952387	T	-	124952387	7	5	138	1	0	1	0	1	0	0	0	0	17731	1493	52	0	1205	0	ZNF148	3	124952387	Frame_Shift_Del	DEL	T	TCGA-FG-7634-01A-11D-2086-08		124952387	73070043	4	6293											
NPHP3	27031	broad.mit.edu	37	chr3	132277850	132277850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtcttttggcttggtcccGcagctccattgttgcgattg	4	15	11	11	2	1	0	0	0	1	0	3	1	3	0	2	2	2	4	2	2	0	6			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr3:132277850G>A	uc003eov.4	-	19	2688	c.2308C>T	c.(2308-2310)Cgg>Tgg	p.R770W		NM_032169	NP_115545	Q7Z494	NPHP3_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 11 (ACAD11), mRNA.	0					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTTGGTCCCGCAGCTCCATT	0.463													3	51					0	0	1	0	0	A	132277850	G	A	132277850	3	1	138	1	0	0	0	0	1	0	0	0	10580	1086	38	1		1	NPHP3	3	132277850	Missense_Mutation	SNP	G	TCGA-FG-7634-01A-11D-2086-08	7325463	132277850	65744580	5	6294											
PIK3CA	5290	broad.mit.edu	37	chr3	178916645	178916645	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accatcatcaggtgaactgtGgggcatccacttgatgcccc	9	9	10	13	0	2	2	2	2	0	0	3	2	3	2	4	3	2	1	4	3	1	1			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr3:178916645G>C	uc003fjk.3	+	1	189	c.32G>C	c.(31-33)tGg>tCg	p.W11S		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	11					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.W11L(3)|p.L10_M16del(2)|p.E9_R19del(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GGTGAACTGTGGGGCATCCAC	0.403		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			29	28					0	0	1	0	0	C	178916645	G	C	178916645	3	2	138	1	0	0	0	0	1	0	0	0	11913	1357	47	5	34	5	PIK3CA	3	178916645	Missense_Mutation	SNP	G	TCGA-FG-7634-01A-11D-2086-08	46638795	178916645	19105785	6	6295											
PCDH7	5099	broad.mit.edu	37	chr4	30725853	30725853	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aatctaaaaagcctaaaaagGacaagaaaaacaaaaaatct	26	5	4	6	0	2	1	0	0	2	1	2	2	2	2	1	1	2	0	1	1	13	2			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr4:30725853G>C	uc003gsk.1	+	0	3817	c.2809G>C	c.(2809-2811)Gac>Cac	p.D937H	PCDH7_uc011bxx.2_Missense_Mutation_p.D937H|PCDH7_uc021xnd.1_Missense_Mutation_p.D937H|PCDH7_uc021xnc.1_Missense_Mutation_p.D937H	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	937					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GCCTAAAAAGGACAAGAAAAA	0.398													14	34					0	0	1	0	0	C	30725853	G	C	30725853	3	2	138	1	0	0	0	0	1	0	0	0	11516	1174	41	5	2811	5	PCDH7	4	30725853	Missense_Mutation	SNP	G	TCGA-FG-7634-01A-11D-2086-08		30725853	160428423	7	6296											
GABRA4	2557	broad.mit.edu	37	chr4	46967171	46967171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctatgaaccagtccatggcgGtagcataggacactttgggc	10	9	12	10	1	0	1	0	1	0	0	1	2	1	2	2	4	2	2	2	4	4	4			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr4:46967171G>A	uc003gxg.3	-	7	1933	c.950C>T	c.(949-951)aCc>aTc	p.T317I	GABRA4_uc021xnz.1_Missense_Mutation_p.T298I|GABRA4_uc021xoa.1_Missense_Mutation_p.T247I	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	317					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GTCCATGGCGGTAGCATAGGA	0.433													4	145					0	0	1	0	0	A	46967171	G	A	46967171	3	1	138	1	0	0	0	0	1	0	0	0	6163	1261	44	3	722	3	GABRA4	4	46967171	Missense_Mutation	SNP	G	TCGA-FG-7634-01A-11D-2086-08	16241318	46967171	144187105	8	6297											
BEND3	57673	broad.mit.edu	37	chr6	107391126	107391126	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcacccagcttgcggtggtcGaagagctcggggaagagccg	8	6	16	11	4	1	2	1	0	0	2	3	4	1	3	2	4	4	2	2	4	2	1			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr6:107391126G>A	uc003prs.2	-	4	1919	c.1269C>T	c.(1267-1269)ttC>ttT	p.F423F		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	Homo sapiens BEN domain containing 3 (BEND3), mRNA.	423	BEN 2.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						TGCGGTGGTCGAAGAGCTCGG	0.622													3	60					0	0	1	0	0	A	107391126	G	A	107391126	2	1	138	1	0	0	0	0	0	0	0	1	1399	1049	37	2		2	BEND3	6	107391126	Silent	SNP	G	TCGA-FG-7634-01A-11D-2086-08		107391126	63723941	9	6298											
ABCB4	5244	broad.mit.edu	37	chr7	87074281	87074282	+	Frame_Shift_Ins	INS	-	-	A																															gaaagctccaattaggattgINSaaaaaaaaacctgagcaaaa																										TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr7:87074281_87074282insA	uc003uiv.1	-	9	1091_1092	c.1015_1016insT	c.(1015-1017)tcafs	p.S339fs	ABCB4_uc003uiw.1_Frame_Shift_Ins_p.S339fs|ABCB4_uc003uix.1_Frame_Shift_Ins_p.S339fs	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	339	ABC transmembrane type-1 1.				cellular lipid metabolic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.S339fs*3(2)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					AATTAGGATTGAAAAAAAAACC	0.347													7	42	---	---	---	---						A	87074282	-	A	87074281	7	5	138	1	0	1	1	0	0	0	0	0	43	1294	45	0	2920	0	ABCB4	7	87074281	Frame_Shift_Ins	INS	-	TCGA-FG-7634-01A-11D-2086-08		87074281	72064382	10	6299											
EPHX2	2053	broad.mit.edu	37	chr8	27401706	27401706	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggggtttcctttcagattCcccacctgaaaaggggacac	9	10	10	12	0	1	2	1	1	0	1	3	3	3	3	4	4	0	1	4	4	2	3			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr8:27401706C>A	uc003xfu.3	+	17	1615	c.1534C>A	c.(1534-1536)Ccc>Acc	p.P512T	EPHX2_uc010luv.3_Missense_Mutation_p.P446T|EPHX2_uc003xfv.3_Missense_Mutation_p.P459T|EPHX2_uc010luw.3_Missense_Mutation_p.P446T	NM_001979	NP_001970	P34913	HYES_HUMAN	Homo sapiens epoxide hydrolase 2, cytoplasmic (EPHX2), mRNA.	512	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	Golgi apparatus|cytosol|focal adhesion|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	CTTTCAGATTCCCCACCTGAA	0.572													50	132					1.77791e-30	1.77791e-30	1	1	0	A	27401706	C	A	27401706	3	1	138	1	0	0	0	0	1	0	0	0	5180	855	30	5	1604	5	EPHX2	8	27401706	Missense_Mutation	SNP	C	TCGA-FG-7634-01A-11D-2086-08		27401706	118962316	11	6300											
PLIN2	123	broad.mit.edu	37	chr9	19116570	19116570	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtacaccttggatgttGgacaggagggtgtggcacgt	7	11	17	6	1	0	0	0	0	0	0	0	3	0	3	1	6	1	3	1	6	1	3			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr9:19116570G>A	uc003zno.3	-	7	1200	c.990C>T	c.(988-990)tcC>tcT	p.S330S	PLIN2_uc011lna.2_Silent_p.S302S	NM_001122	NP_001113	Q99541	PLIN2_HUMAN	Homo sapiens perilipin 2 (PLIN2), transcript variant 1, mRNA.	330					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						CTTGGATGTTGGACAGGAGGG	0.493													4	158					0	0	1	0	0	A	19116570	G	A	19116570	2	1	138	1	0	0	0	0	0	0	0	1	12090	1335	47	3		3	PLIN2	9	19116570	Silent	SNP	G	TCGA-FG-7634-01A-11D-2086-08		19116570	122096861	12	6301											
ABCA1	19	broad.mit.edu	37	chr9	107645364	107645364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaatgttctcagaactttgCgcatgtccttcatgctggtg	7	15	10	9	1	2	1	2	0	1	1	4	1	3	1	1	1	3	4	1	1	2	4	rs138438101		TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr9:107645364C>T	uc004bcl.3	-	4	781	c.377G>A	c.(376-378)cGc>cAc	p.R126H	ABCA1_uc004bcm.3_Missense_Mutation_p.R66H	NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	126					Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	ATP binding|ATPase activity|anion transmembrane transporter activity|apolipoprotein A-I receptor activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	p.R126H(2)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAGAACTTTGCGCATGTCCTT	0.453													6	64					0	0	1	0	0	T	107645364	C	T	107645364	3	4	138	1	0	0	0	0	1	0	0	0	28	768	27	1	6592	1	ABCA1	9	107645364	Missense_Mutation	SNP	C	TCGA-FG-7634-01A-11D-2086-08	88528794	107645364	33568067	13	6302											
PDE6C	5146	broad.mit.edu	37	chr10	95381756	95381756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagcgacagtttcacaaagCgctctacacggttagatcat	12	10	9	10	3	3	2	2	1	1	1	3	3	3	2	0	1	3	3	0	1	3	3	rs143673530	byFrequency	TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr10:95381756C>T	uc001kiu.4	+	3	929	c.791C>T	c.(790-792)gCg>gTg	p.A264V		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	264	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TTTCACAAAGCGCTCTACACG	0.388													36	57					0	0	1	0	0	T	95381756	C	T	95381756	3	4	138	1	0	0	0	0	1	0	0	0	11647	768	27	1	805	1	PDE6C	10	95381756	Missense_Mutation	SNP	C	TCGA-FG-7634-01A-11D-2086-08		95381756	40152991	14	6303											
F2	2147	broad.mit.edu	37	chr11	46742097	46742097	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttctgggccaagtacacaGgtgagcaccgggaaggattt	10	9	14	8	1	1	1	0	1	1	0	1	3	1	3	2	4	2	3	2	4	3	3			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr11:46742097G>A	uc001ndf.4	+	3	308	c.265_splice	c.e3+1	p.A89_splice		NM_000506	NP_000497	P00734	THRB_HUMAN	Homo sapiens coagulation factor II (thrombin) (F2), mRNA.	89	Gla.				STAT protein import into nucleus|activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|tyrosine phosphorylation of STAT protein	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular space|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	CAAGTACACAGGTGAGCACCG	0.532													4	106					0	0	1	0	0	A	46742097	G	A	46742097	5	1	138	1	0	0	0	0	0	0	1	0	5342	1014	35	3	275	3	F2	11	46742097	Splice_Site	SNP	G	TCGA-FG-7634-01A-11D-2086-08		46742097	88264419	15	6304											
OR4A5	81318	broad.mit.edu	37	chr11	51411931	51411931	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtacacaacaatttgaaaCgcagaatgtacaaaacctcc	17	8	5	11	1	0	2	0	1	0	1	1	2	1	2	2	0	5	3	2	0	8	3	rs140587389	byFrequency	TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr11:51411931C>T	uc001nhi.2	-	0	518	c.465G>A	c.(463-465)gcG>gcA	p.A155A		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A155A(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CAATTTGAAACGCAGAATGTA	0.453													21	32					0	0	1	0	0	T	51411931	C	T	51411931	2	4	138	1	0	0	0	0	0	0	0	1	11043	523	19	1		1	OR4A5	11	51411931	Silent	SNP	C	TCGA-FG-7634-01A-11D-2086-08	4669834	51411931	83594585	16	6305											
DNAH10	196385	broad.mit.edu	37	chr12	124358200	124358200	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcgaaccaaagatacttaCggcccacccatgggaaaacg	16	4	9	12	3	0	1	0	0	0	1	0	3	0	2	3	2	5	0	3	2	7	2			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr12:124358200C>T	uc001uft.4	+	44	7552	c.7527C>T	c.(7525-7527)taC>taT	p.Y2509Y		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	2509	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAGATACTTACGGCCCACCCA	0.473													6	14					0	0	1	0	0	T	124358200	C	T	124358200	2	4	138	1	0	0	0	0	0	0	0	1	4598	547	19	1		1	DNAH10	12	124358200	Silent	SNP	C	TCGA-FG-7634-01A-11D-2086-08		124358200	9493695	17	6306											
PCDH9	5101	broad.mit.edu	37	chr13	67800158	67800158	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagtcctcattttgatagggTtggctactatcccctatgtt	7	17	8	9	0	1	1	1	1	0	0	3	1	3	1	3	2	1	3	3	2	5	9			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr13:67800158T>C	uc001vik.3	-	1	3107	c.2415A>G	c.(2413-2415)caA>caG	p.Q805Q	PCDH9_uc001vil.3_Silent_p.Q805Q|PCDH9_uc010thl.2_Silent_p.Q805Q|PCDH9_uc001vin.3_Silent_p.Q805Q	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	805					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTTGATAGGGTTGGCTACTAT	0.483													13	180					0	0	1	0	0	C	67800158	T	C	67800158	2	2	138	1	0	0	0	0	0	0	0	1	11518	1722	60	3		3	PCDH9	13	67800158	Silent	SNP	T	TCGA-FG-7634-01A-11D-2086-08		67800158	47369720	18	6307											
SFTA3	253970	broad.mit.edu	37	chr14	36946257	36946257	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgttcctggacttggcacGcaaacagcgacacaggtggg	10	7	13	11	2	0	0	0	0	0	0	1	2	1	1	1	4	2	3	1	4	1	2			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr14:36946257G>A	uc001wtr.3	-	2	812	c.180C>T	c.(178-180)tgC>tgT	p.C60C	SFTA3_uc001wtq.3_Non-coding_Transcript|SFTA3_uc001wts.3_Non-coding_Transcript	NM_001101341	NP_001094811	P0C7M3	SFTA3_HUMAN	Homo sapiens surfactant associated 3 (SFTA3), mRNA.	60								p.C60C(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7						GACTTGGCACGCAAACAGCGA	0.517													9	142					0	0	1	0	0	A	36946257	G	A	36946257	2	1	138	1	0	0	0	0	0	0	0	1	14188	1079	38	1		1	SFTA3	14	36946257	Silent	SNP	G	TCGA-FG-7634-01A-11D-2086-08		36946257	70403283	19	6308											
SLFN11	91607	broad.mit.edu	37	chr17	33679774	33679774	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttccctgaacaccctgggaCcattcggcttcaggaaatac	10	9	9	13	1	1	1	1	1	0	0	3	3	2	3	3	3	2	2	3	3	3	4			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr17:33679774C>T	uc002hjg.4	-	4	2554	c.2307G>A	c.(2305-2307)tgG>tgA	p.W769*	SLFN11_uc010ctr.3_Nonsense_Mutation_p.W769*|SLFN11_uc010ctp.3_Nonsense_Mutation_p.W769*|SLFN11_uc010ctq.3_Nonsense_Mutation_p.W769*|SLFN11_uc002hjh.4_Nonsense_Mutation_p.W769*	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	769						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CACCCTGGGACCATTCGGCTT	0.443													19	30					0	0	1	0	0	T	33679774	C	T	33679774	4	4	138	1	0	0	0	0	0	1	0	0	14733	508	18	3	402	3	SLFN11	17	33679774	Nonsense_Mutation	SNP	C	TCGA-FG-7634-01A-11D-2086-08		33679774	47515436	20	6309											
CDK12	51755	broad.mit.edu	37	chr17	37676268	37676268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacactagatcctagtaagcGgtgcacagctgaacagaccc	13	6	10	12	1	0	3	0	1	0	2	1	4	1	3	2	1	4	3	2	1	4	3			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr17:37676268G>A	uc010cvv.3	+	10	3609	c.3023G>A	c.(3022-3024)cGg>cAg	p.R1008Q	CDK12_uc010wef.1_Missense_Mutation_p.R1007Q|CDK12_uc002hrw.4_Missense_Mutation_p.R1008Q	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	1008	Protein kinase.				RNA splicing|mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CCTAGTAAGCGGTGCACAGCT	0.473			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			59	160					0	0	1	0	0	A	37676268	G	A	37676268	3	1	138	1	0	0	0	0	1	0	0	0	3128	1116	39	2	3065	2	CDK12	17	37676268	Missense_Mutation	SNP	G	TCGA-FG-7634-01A-11D-2086-08	3996494	37676268	43518942	21	6310											
ACE	1636	broad.mit.edu	37	chr17	61560474	61560474	+	Frame_Shift_Del	DEL	G	G	-																															cttggtggaccagtggcgctGgggggtctttagtgggcgta																										TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr17:61560474delG	uc002jau.2	+	8	1461	c.1427delG	c.(1426-1428)tggfs	p.W476fs	ACE_uc010wpi.2_Intron|ACE_uc010ddu.2_Frame_Shift_Del_p.W293fs|ACE_uc010wpj.2_5'Flank|ACE_uc010ddv.2_5'Flank|ACE_uc002jav.2_5'Flank|ACE_uc002jaw.2_5'Flank|ACE_uc010wpk.2_5'Flank	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	476	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CAGTGGCGCTGGGGGGTCTTT	0.532													8	377	---	---	---	---						-	61560474	G	-	61560474	7	5	138	1	0	1	0	1	0	0	0	0	136	1357	47	0	1461	0	ACE	17	61560474	Frame_Shift_Del	DEL	G	TCGA-FG-7634-01A-11D-2086-08	23884206	61560474	19634736	22	6311											
SEH1L	81929	broad.mit.edu	37	chr18	12955479	12955479	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagacacatagtggatctgtAtggcgtgtgacatgggccca	10	9	13	9	1	1	2	0	1	1	1	1	3	1	3	1	3	0	1	1	3	2	2	rs140218685	byFrequency	TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr18:12955479A>G	uc002krq.3	+	2	318	c.180A>G	c.(178-180)gtA>gtG	p.V60V	SEH1L_uc002krr.3_Silent_p.V60V	NM_001013437	NP_001013455	Q96EE3	SEH1_HUMAN	Homo sapiens SEH1-like (S. cerevisiae) (SEH1L), transcript variant 1, mRNA.	60					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mRNA transport|mitotic metaphase plate congression|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						GTGGATCTGTATGGCGTGTGA	0.398													4	83					0	0	1	0	0	G	12955479	A	G	12955479	2	3	138	1	0	0	0	0	0	0	0	1	14009	436	16	3		3	SEH1L	18	12955479	Silent	SNP	A	TCGA-FG-7634-01A-11D-2086-08		12955479	65121769	23	6312											
CLEC17A	388512	broad.mit.edu	37	chr19	14694175	14694176	+	In_Frame_Ins	INS	-	-	GGA																															tttcccctggaagggaccatINSggaggaggaggaggaggatg																								rs34295949		TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr19:14694175_14694176insGGA	uc010dzn.2	+	1	127_128	c.50_51insGGA	c.(49-51)atg>atGGAg	p.22_23insE	CLEC17A_uc010dzo.2_In_Frame_Ins_p.22_23insE|CLEC17A_uc002mzh.2_In_Frame_Ins_p.22_23insE|CLEC17A_uc010xnt.2_Non-coding_Transcript|CLEC17A_uc010xnu.2_In_Frame_Ins_p.22_23insE	NM_001204118	NP_001191047	Q6ZS10	CL17A_HUMAN	Homo sapiens C-type lectin domain family 17, member A (CLEC17A), transcript variant 1, mRNA.	22	Poly-Glu.					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										GAAGGGACCATGGAGGAGGAGG	0.579													4	8	---	---	---	---						GGA	14694176	-	GGA	14694175	7	5	138	1	0	1	1	0	0	0	0	0	3501	1464	51	0	56	0	CLEC17A	19	14694175	In_Frame_Ins	INS	-	TCGA-FG-7634-01A-11D-2086-08		14694175	44434808	24	6313											
CIC	23152	broad.mit.edu	37	chr19	42798840	42798840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaccctggaccagcgccGggccctggtcatgcagctct	5	6	13	17	3	2	0	1	0	1	0	2	1	2	1	4	3	3	3	4	3	0	0			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr19:42798840G>A	uc002otf.1	+	18	4452	c.4412G>A	c.(4411-4413)cGg>cAg	p.R1471Q		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GACCAGCGCCGGGCCCTGGTC	0.612			"Mis, F, S"		oligodendroglioma								33	24					0	0	1	0	0	A	42798840	G	A	42798840	3	1	138	1	0	0	0	0	1	0	0	0	3424	1116	39	2	4486	2	CIC	19	42798840	Missense_Mutation	SNP	G	TCGA-FG-7634-01A-11D-2086-08	28104665	42798840	16330143	25	6314											
ZNF347	84671	broad.mit.edu	37	chr19	53652555	53652555	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtacaaagtcctctgagcGgggtccaggcatgtccactc	8	9	11	13	1	1	1	0	1	1	0	5	1	4	1	3	3	2	2	3	3	2	1			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr19:53652555G>A	uc002qbc.2	-	2	508	c.81C>T	c.(79-81)ccC>ccT	p.P27P	ZNF347_uc002qbb.2_Silent_p.P27P|ZNF347_uc010eql.2_Silent_p.P27P	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN	Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.	27	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P27P(2)		endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TCCTCTGAGCGGGGTCCAGGC	0.502													49	45					0	0	1	0	0	A	53652555	G	A	53652555	2	1	138	1	0	0	0	0	0	0	0	1	17858	1103	39	2		2	ZNF347	19	53652555	Silent	SNP	G	TCGA-FG-7634-01A-11D-2086-08	10853715	53652555	5476428	26	6315											
LILRA1	11024	broad.mit.edu	37	chr19	55086389	55086389	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctgggccatcttctccGtgggccccgtgagcccgagt	3	9	14	15	3	2	1	0	1	2	0	4	2	3	1	6	3	1	0	6	3	0	1			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr19:55086389G>A	uc010ern.3	+	4	1013	c.544G>A	c.(544-546)Gtg>Atg	p.V182M	LILRA1_uc002qgg.4_Missense_Mutation_p.V182M|LILRA1_uc002qgf.3_Missense_Mutation_p.V182M|LILRA1_uc010yfe.1_Missense_Mutation_p.V182M|LILRA1_uc010yff.1_Missense_Mutation_p.V170M|LILRA1_uc010ero.3_Missense_Mutation_p.V170M|LILRA1_uc010yfg.1_Missense_Mutation_p.V182M			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	184	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.F182F(1)|p.V182M(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CATCTTCTCCGTGGGCCCCGT	0.562													60	39					0	0	1	0	0	A	55086389	G	A	55086389	3	1	138	1	0	0	0	0	1	0	0	0	8784	1145	40	1		1	LILRA1	19	55086389	Missense_Mutation	SNP	G	TCGA-FG-7634-01A-11D-2086-08	1433834	55086389	4042594	27	6316											
GGA1	26088	broad.mit.edu	37	chr22	38014515	38014515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacgaagtgggcaagttcCgctttctcaacgagctcatc	10	9	10	12	4	2	0	2	0	1	0	5	3	3	0	1	1	2	4	1	1	3	2			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr22:38014515C>T	uc003atc.3	+	3	652	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	GGA1_uc003ate.3_Missense_Mutation_p.R89C|GGA1_uc003atd.3_Missense_Mutation_p.R89C|GGA1_uc003atf.3_Missense_Mutation_p.R16C	NM_013365	NP_001166159	Q9UJY5	GGA1_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 1 (GGA1), transcript variant 1, mRNA.	89	VHS.				intracellular protein transport|vesicle-mediated transport	Golgi apparatus part|clathrin adaptor complex|endosome membrane	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GGGCAAGTTCCGCTTTCTCAA	0.617													4	51					0	0	1	0	0	T	38014515	C	T	38014515	3	4	138	1	0	0	0	0	1	0	0	0	6352	652	23	2	345	2	GGA1	22	38014515	Missense_Mutation	SNP	C	TCGA-FG-7634-01A-11D-2086-08		38014515	13290051	28	6317											
CELSR1	9620	broad.mit.edu	37	chr22	46790148	46790148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaccagcctctggggcacGgaaggtcgagtctgtgggga	7	6	16	12	2	2	0	0	0	2	0	3	3	2	2	3	6	1	1	3	6	1	0			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr22:46790148G>A	uc003bhw.1	-	13	5855	c.5855C>T	c.(5854-5856)cCg>cTg	p.P1952L	CELSR1_uc011arc.1_Missense_Mutation_p.P273L	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1952	EGF-like 7; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity	p.P1952S(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCTGGGGCACGGAAGGTCGAG	0.562													5	44					0	0	1	0	0	A	46790148	G	A	46790148	3	1	138	1	0	0	0	0	1	0	0	0	3221	1116	39	2	3277	2	CELSR1	22	46790148	Missense_Mutation	SNP	G	TCGA-FG-7634-01A-11D-2086-08	8775633	46790148	4514418	29	6318											
PLEKHN1	84069	broad.mit.edu	37	chr1	907741	907741	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactggctgctgtgccttcgCgctgtcacccacagggaggg	5	8	14	14	2	1	0	1	0	0	0	2	1	1	1	2	3	2	3	2	3	0	1			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr1:907741C>T	uc001ace.3	+	8	1130	c.1095C>T	c.(1093-1095)cgC>cgT	p.R365R	PLEKHN1_uc001acd.3_Silent_p.R313R|PLEKHN1_uc001acf.3_Silent_p.R325R	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN	Homo sapiens pleckstrin homology domain containing, family N member 1 (PLEKHN1), transcript variant 1, mRNA.	365	PH 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TGTGCCTTCGCGCTGTCACCC	0.677													5	18					0	0	1	0	0	T	907741	C	T	907741	2	4	139	1	0	0	0	0	0	0	0	1	12083	755	27	1		1	PLEKHN1	1	907741	Silent	SNP	C	TCGA-FG-7636-01A-11D-2086-08		907741	248342880	1	6319											
PKLR	5313	broad.mit.edu	37	chr1	155261708	155261708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcccgaggtcggtacCgagacagaagctgggctgag	8	6	16	11	3	0	3	0	1	0	2	1	5	0	3	2	3	4	4	2	3	2	1			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr1:155261708C>T	uc001fkb.4	-	9	1496	c.1457G>A	c.(1456-1458)cGg>cAg	p.R486Q	PKLR_uc001fka.4_Missense_Mutation_p.R455Q	NM_000298	NP_000289	P30613	KPYR_HUMAN	Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	486			R -> W (in PKRD; frequent mutation; no conformational change).		endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	AGGTCGGTACCGAGACAGAAG	0.577													16	69					0	0	1	0	0	T	155261708	C	T	155261708	3	4	139	1	0	0	0	0	1	0	0	0	11976	652	23	2	275	2	PKLR	1	155261708	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08	154353967	155261708	93988913	2	6320											
IGSF8	93185	broad.mit.edu	37	chr1	160064985	160064985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacagctgtgccagccacgCggtacaagggcccctcgggg	8	4	15	14	3	0	1	0	0	0	1	1	1	0	1	4	4	4	2	4	4	2	1			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr1:160064985C>T	uc001fva.3	-	1	161	c.116G>A	c.(115-117)cGc>cAc	p.R39H	IGSF8_uc001fuz.3_Missense_Mutation_p.R39H|IGSF8_uc009wtf.3_Missense_Mutation_p.R39H	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	Homo sapiens immunoglobulin superfamily, member 8 (IGSF8), transcript variant 1, mRNA.	39	Ig-like C2-type 1.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	p.R39L(4)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCCAGCCACGCGGTACAAGGG	0.617													9	36					0	0	1	0	0	T	160064985	C	T	160064985	3	4	139	1	0	0	0	0	1	0	0	0	7604	768	27	1	1745	1	IGSF8	1	160064985	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08	4803277	160064985	89185636	3	6321											
ADCY10	55811	broad.mit.edu	37	chr1	167870982	167870982	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggctacatttaattacCactgtgataatgtttttcag	11	16	6	8	0	1	1	1	1	0	0	2	1	2	1	2	1	2	2	2	1	4	7			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr1:167870982C>T	uc001ger.3	-	4	652	c.354G>A	c.(352-354)gtG>gtA	p.V118V	ADCY10_uc010plj.2_Intron|ADCY10_uc009wvk.3_Silent_p.V26V|ADCY10_uc009wvl.3_Silent_p.V117V|ADCY10_uc009wvm.2_Intron	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	118	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ATTTAATTACCACTGTGATAA	0.498													11	221					0	0	1	0	0	T	167870982	C	T	167870982	2	4	139	1	0	0	0	0	0	0	0	1	293	581	21	3		3	ADCY10	1	167870982	Silent	SNP	C	TCGA-FG-7636-01A-11D-2086-08	7805997	167870982	81379639	4	6322											
CACNA1S	779	broad.mit.edu	37	chr1	201046152	201046152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagagctgcatgcccaggaGggcgaagatgacgatgaaga	15	4	15	7	2	0	5	0	2	0	3	0	8	0	6	1	2	3	2	1	2	3	0			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr1:201046152G>A	uc001gvv.3	-	11	1950	c.1723C>T	c.(1723-1725)Ctc>Ttc	p.L575F		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	575					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ATGCCCAGGAGGGCGAAGATG	0.567													7	129					0	0	1	0	0	A	201046152	G	A	201046152	3	1	139	1	0	0	0	0	1	0	0	0	2547	1000	35	3	4030	3	CACNA1S	1	201046152	Missense_Mutation	SNP	G	TCGA-FG-7636-01A-11D-2086-08	33175170	201046152	48204469	5	6323											
CENPF	1063	broad.mit.edu	37	chr1	214803886	214803886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttttcaggagctctccCgtcaacagcgttctttccaa	7	15	7	12	2	4	0	2	0	2	0	6	1	5	1	2	1	3	3	2	1	2	5			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr1:214803886C>T	uc001hkm.3	+	8	1378	c.1204C>T	c.(1204-1206)Cgt>Tgt	p.R402C		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	402	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.R402S(2)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GGAGCTCTCCCGTCAACAGCG	0.537													33	217					0	0	1	0	0	T	214803886	C	T	214803886	3	4	139	1	0	0	0	0	1	0	0	0	3231	652	23	2	1234	2	CENPF	1	214803886	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08	13757734	214803886	34446735	6	6324											
WDR26	80232	broad.mit.edu	37	chr1	224621758	224621760	+	In_Frame_Del	DEL	CCG	CCG	-																															cgccgccccctcctcctccaCcgccgccgccgccacctcct																										TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr1:224621758_224621760delCCG	uc001hop.4	-	0	242_244	c.48_50delCGG	c.(46-51)ggcggt>ggt	p.16_17GG>G	WDR26_uc001hoq.4_In_Frame_Del_p.16_17GG>G|WDR26_uc021pjp.1_Non-coding_Transcript|WDR26_uc009xei.2_In_Frame_Del_p.16_17GG>G|WDR26_uc021pjt.1_In_Frame_Del_p.16_17GG>G	NM_025160	NP_079436	Q9H7D7	WDR26_HUMAN	Homo sapiens WD repeat domain 26 (WDR26), transcript variant 1, mRNA.	16						cytoplasm|nucleus				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		tcctcctccaccgccgccgccgc	0.729													2	4	---	---	---	---						-	224621760	CCG	-	224621758	7	5	139	1	0	1	0	1	0	0	0	0	17280	507	18	0	1991	0	WDR26	1	224621758	In_Frame_Del	DEL	CCG	TCGA-FG-7636-01A-11D-2086-08	9817872	224621758	24628863	7	6325											
OR2M3	127062	broad.mit.edu	37	chr1	248366731	248366731	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggctgttatggcttatgAccgctacactgccatttgcc	6	15	9	11	1	0	1	0	1	0	0	0	1	0	1	3	2	3	4	3	2	3	5			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr1:248366731A>G	uc010pzg.2	+	0	362	c.362A>G	c.(361-363)gAc>gGc	p.D121G		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATGGCTTATGACCGCTACACT	0.463													20	234					0	0	1	0	0	G	248366731	A	G	248366731	3	3	139	1	0	0	0	0	1	0	0	0	11011	275	10	3	364	3	OR2M3	1	248366731	Missense_Mutation	SNP	A	TCGA-FG-7636-01A-11D-2086-08	23744973	248366731	883890	8	6326											
LRP1B	53353	broad.mit.edu	37	chr2	141739804	141739804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgctctgggaatgcaacGcccatttccgcaagaaaact	12	8	8	13	2	1	1	0	0	1	1	2	2	2	2	3	1	4	3	3	1	5	1			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr2:141739804G>A	uc002tvj.1	-	17	3784	c.2812C>T	c.(2812-2814)Cgt>Tgt	p.R938C	LRP1B_uc010fnl.1_Missense_Mutation_p.R120C	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	938	LDL-receptor class A 5.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGAATGCAACGCCCATTTCCG	0.423										TSP Lung(27;0.18)			16	85					0	0	1	0	0	A	141739804	G	A	141739804	3	1	139	1	0	0	0	0	1	0	0	0	8955	1087	38	1	11283	1	LRP1B	2	141739804	Missense_Mutation	SNP	G	TCGA-FG-7636-01A-11D-2086-08		141739804	101459569	9	6327											
ACVR2A	92	broad.mit.edu	37	chr2	148653873	148653873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttttattatcttataggtgCtatacttggtagatcagaaa	12	18	7	4	0	2	2	1	0	1	2	2	2	2	2	0	2	2	2	0	2	8	10			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr2:148653873C>T	uc002twg.3	+	2	328	c.59C>T	c.(58-60)gCt>gTt	p.A20V	ACVR2A_uc010zbn.2_Intron|ACVR2A_uc002twh.3_Missense_Mutation_p.A20V	NM_001616	NP_001607	P27037	AVR2A_HUMAN	Homo sapiens activin A receptor, type IIA (ACVR2A), mRNA.	20					BMP signaling pathway|activin receptor signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		CTTATAGGTGCTATACTTGGT	0.333													13	64					0	0	1	0	0	T	148653873	C	T	148653873	3	4	139	1	0	0	0	0	1	0	0	0	223	797	28	3	65	3	ACVR2A	2	148653873	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08	6914069	148653873	94545500	10	6328											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								36	48					0	0	1	0	0	T	209113112	C	T	209113112	3	4	139	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08	60459239	209113112	34086261	11	6329											
KLHL30	377007	broad.mit.edu	37	chr2	239050040	239050040	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcccgggccgcccacctGcccgagctgctcagcctagt	5	5	12	19	3	1	0	1	0	0	0	1	1	1	0	6	2	4	2	6	2	1	1			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr2:239050040G>A	uc002vxr.2	+	1	752	c.645G>A	c.(643-645)ctG>ctA	p.L215L		NM_198582	NP_940984	Q0D2K2	KLH30_HUMAN	Homo sapiens kelch-like 30 (Drosophila) (KLHL30), mRNA.	215	BACK.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCGCCCACCTGCCCGAGCTGC	0.706													3	8					0	0	1	0	0	A	239050040	G	A	239050040	2	1	139	1	0	0	0	0	0	0	0	1	8384	1306	46	3		3	KLHL30	2	239050040	Silent	SNP	G	TCGA-FG-7636-01A-11D-2086-08	29936928	239050040	4149333	12	6330											
SMARCC1	6599	broad.mit.edu	37	chr3	47719787	47719787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgtgtcaatcataaaatttCgatatgccaagtatctaaaa	17	12	5	7	2	3	0	2	0	1	0	4	1	3	0	1	0	1	1	1	0	8	5			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr3:47719787C>T	uc003crq.2	-	15	1590	c.1472G>A	c.(1471-1473)cGa>cAa	p.R491Q	SMARCC1_uc011bbc.1_Non-coding_Transcript|SMARCC1_uc011bbd.1_Missense_Mutation_p.R382Q	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA.	491	SWIRM.				chromatin remodeling|nervous system development|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CATAAAATTTCGATATGCCAA	0.388													8	151					0	0	1	0	0	T	47719787	C	T	47719787	3	4	139	1	0	0	0	0	1	0	0	0	14775	884	31	2	1897	2	SMARCC1	3	47719787	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08		47719787	150302643	13	6331											
ZBTB49	166793	broad.mit.edu	37	chr4	4304568	4304568	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagatgatggtttgacaaaGaggttggaatctgctagtaa	13	12	12	4	0	2	4	1	2	1	2	2	5	2	5	0	3	1	4	0	3	4	4			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr4:4304568G>A	uc003ghu.3	+	2	1180	c.1005G>A	c.(1003-1005)aaG>aaA	p.K335K	ZBTB49_uc003ghv.3_5'UTR|ZBTB49_uc010icy.3_Non-coding_Transcript|ZBTB49_uc010icz.3_Silent_p.K35K	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN	Homo sapiens zinc finger and BTB domain containing 49 (ZBTB49), mRNA.	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						GTTTGACAAAGAGGTTGGAAT	0.398													24	30					0	0	1	0	0	A	4304568	G	A	4304568	2	1	139	1	0	0	0	0	0	0	0	1	17547	933	33	3		3	ZBTB49	4	4304568	Silent	SNP	G	TCGA-FG-7636-01A-11D-2086-08		4304568	186849708	14	6332											
GUF1	60558	broad.mit.edu	37	chr4	44693681	44693681	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attttcttccttccctttttAggctcgaagagcagttcaga	8	16	7	10	1	2	2	1	0	1	2	5	3	4	2	2	1	1	3	2	1	2	8			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr4:44693681A>G	uc003gww.4	+	13	1687	c.1480_splice	c.e13-2	p.A494_splice		NM_021927	NP_068746	Q8N442	GUF1_HUMAN	Homo sapiens GUF1 GTPase homolog (S. cerevisiae) (GUF1), mRNA.	494					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						TTCCCTTTTTAGGCTCGAAGA	0.299													8	128					0	0	1	0	0	G	44693681	A	G	44693681	5	3	139	1	0	0	0	0	0	0	1	0	6899	434	15	4	1528	4	GUF1	4	44693681	Splice_Site	SNP	A	TCGA-FG-7636-01A-11D-2086-08	40389113	44693681	146460595	15	6333											
SLC10A6	345274	broad.mit.edu	37	chr4	87770048	87770048	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcatgagcccaaactggCagagcagtcccacagcaatg	14	4	11	12	0	0	2	0	1	0	1	1	2	1	2	2	2	4	4	2	2	3	0			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr4:87770048C>T	uc003hqd.2	-	0	369	c.221G>A	c.(220-222)tGc>tAc	p.C74Y		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 6 (SLC10A6), mRNA.	74						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		CCCAAACTGGCAGAGCAGTCC	0.542													6	34					0	0	1	0	0	T	87770048	C	T	87770048	3	4	139	1	0	0	0	0	1	0	0	0	14378	710	25	3	936	3	SLC10A6	4	87770048	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08	43076367	87770048	103384228	16	6334											
FHDC1	85462	broad.mit.edu	37	chr4	153897446	153897446	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaagcctgaggaaaataaGacctgccgcgcccactccga	13	4	10	14	3	0	3	0	1	0	2	1	5	1	4	5	1	2	0	5	1	4	1			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr4:153897446G>C	uc003inf.2	+	10	3078	c.3003G>C	c.(3001-3003)aaG>aaC	p.K1001N		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	1001					actin cytoskeleton organization		actin binding	p.K1001E(2)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AGGAAAATAAGACCTGCCGCG	0.632													4	36					0	0	1	0	0	C	153897446	G	C	153897446	3	2	139	1	0	0	0	0	1	0	0	0	5876	933	33	5	3045	5	FHDC1	4	153897446	Missense_Mutation	SNP	G	TCGA-FG-7636-01A-11D-2086-08	66127398	153897446	37256830	17	6335											
NPY1R	4886	broad.mit.edu	37	chr4	164246852	164246852	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttggtttcactggacctgTacttattgtctctcatcttg	5	20	7	9	0	4	0	2	0	2	0	5	1	4	1	1	2	1	2	1	2	2	7			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr4:164246852T>C	uc003iqm.2	-	2	1223	c.758A>G	c.(757-759)tAc>tGc	p.Y253C	NPY1R_uc021xtv.1_3'UTR|NPY1R_uc011cjj.2_Missense_Mutation_p.Y10C	NM_000909	NP_000900	P25929	NPY1R_HUMAN	Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA.	253					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ACTGGACCTGTACTTATTGTC	0.368													11	30					0	0	1	0	0	C	164246852	T	C	164246852	3	2	139	1	0	0	0	0	1	0	0	0	10608	1638	57	3	400	3	NPY1R	4	164246852	Missense_Mutation	SNP	T	TCGA-FG-7636-01A-11D-2086-08	10349406	164246852	26907424	18	6336											
C5orf25	375484	broad.mit.edu	37	chr5	175716891	175716891	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctctcagcctacagcaCggagaatcattaacagtgat	14	8	9	10	1	2	2	2	1	1	1	3	4	2	2	1	1	5	2	1	1	4	2			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr5:175716891C>T	uc003mds.4	+	3	714	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	C5orf25_uc003mdr.3_Intron|C5orf25_uc003mdt.4_Intron|C5orf25_uc011dfk.1_Missense_Mutation_p.R122W|C5orf25_uc003mdu.1_Missense_Mutation_p.R14W			Q8NDZ2	CE025_HUMAN	Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA.	103												all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)		GCCTACAGCACGGAGAATCAT	0.522													13	86					0	0	1	0	0	T	175716891	C	T	175716891	3	4	139	1	0	0	0	0	1	0	0	0	2288	551	19	1		1	C5orf25	5	175716891	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08		175716891	5198369	19	6337											
VARS	7407	broad.mit.edu	37	chr6	31747885	31747885	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcctcacagcctctgtcaGgcggctgcggatccagcggt	6	7	14	14	3	3	0	2	0	1	0	4	2	4	1	3	4	4	1	3	4	0	0			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr6:31747885G>A	uc003nxe.3	-	25	3394	c.2971C>T	c.(2971-2973)Ctg>Ttg	p.L991L	VWA7_uc011dog.2_5'Flank|VWA7_uc003nxd.2_5'Flank|VWA7_uc011doh.1_5'Flank|VARS_uc021yuy.1_5'UTR	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	991					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GCCTCTGTCAGGCGGCTGCGG	0.647													10	57					0	0	1	0	0	A	31747885	G	A	31747885	2	1	139	1	0	0	0	0	0	0	0	1	17120	991	35	3		3	VARS	6	31747885	Silent	SNP	G	TCGA-FG-7636-01A-11D-2086-08		31747885	139367182	20	6338											
NOTCH4	4855	broad.mit.edu	37	chr6	32188018	32188018	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcattgggcatccccatgGcacggctggctcagacacat	8	8	11	14	1	1	1	1	0	0	1	2	1	2	1	2	4	1	5	2	4	0	1			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr6:32188018G>T	uc003obb.3	-	6	1342	c.1203C>A	c.(1201-1203)tgC>tgA	p.C401*	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Nonsense_Mutation_p.C401*	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	401	EGF-like 10.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CATCCCCATGGCACGGCTGGC	0.622													13	76					8.60227e-14	8.91508e-14	1	1	0	T	32188018	G	T	32188018	4	4	139	1	0	0	0	0	0	1	0	0	10551	1195	42	5	4904	5	NOTCH4	6	32188018	Nonsense_Mutation	SNP	G	TCGA-FG-7636-01A-11D-2086-08	440133	32188018	138927049	21	6339											
PKHD1	5314	broad.mit.edu	37	chr6	51799071	51799071	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcagaaacaaggatggcGtgtgccctgagctcgatggg	10	7	14	10	2	1	2	1	1	0	1	2	4	1	3	2	3	3	1	2	3	2	0			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr6:51799071G>A	uc003pah.1	-	36	6234	c.5958C>T	c.(5956-5958)caC>caT	p.H1986H	PKHD1_uc010jzn.1_Silent_p.H11H|PKHD1_uc003pai.3_Silent_p.H1986H	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1986	G8 1.				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)					CAAGGATGGCGTGTGCCCTGA	0.537											OREG0017491	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	122					0	0	1	0	0	A	51799071	G	A	51799071	2	1	139	1	0	0	0	0	0	0	0	1	11971	1136	40	1		1	PKHD1	6	51799071	Silent	SNP	G	TCGA-FG-7636-01A-11D-2086-08	19611053	51799071	119315996	22	6340											
NCOA7	135112	broad.mit.edu	37	chr6	126210341	126210341	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggactcctctagggagacaTcccatggttctcccacagtg	8	10	10	13	0	2	1	0	0	2	1	5	3	4	2	3	3	0	1	3	3	1	2			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr6:126210341T>C	uc003qai.3	+	8	1510	c.1141T>C	c.(1141-1143)Tcc>Ccc	p.S381P	NCOA7_uc010kes.3_Missense_Mutation_p.S381P|NCOA7_uc003qae.4_Missense_Mutation_p.S381P|NCOA7_uc010ket.3_Missense_Mutation_p.S266P|NCOA7_uc003qah.3_Missense_Mutation_p.S370P	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	Homo sapiens nuclear receptor coactivator 7 (NCOA7), transcript variant 1, mRNA.	381					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		TAGGGAGACATCCCATGGTTC	0.458													7	31					0	0	1	0	0	C	126210341	T	C	126210341	3	2	139	1	0	0	0	0	1	0	0	0	10234	1435	50	3	1171	3	NCOA7	6	126210341	Missense_Mutation	SNP	T	TCGA-FG-7636-01A-11D-2086-08	74411270	126210341	44904726	23	6341											
NRCAM	4897	broad.mit.edu	37	chr7	107823139	107823139	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taggaaatggcatcacttacGgtcttctccagaatgtccca	11	11	8	11	1	3	1	1	0	2	1	5	2	4	2	2	3	1	1	2	3	4	3			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr7:107823139G>A	uc022aka.1	-	20	2636	c.2530_splice	c.e20+1	p.L844_splice	NRCAM_uc011kmk.2_Splice_Site_p.L844_splice|NRCAM_uc003vfd.3_Splice_Site_p.L825_splice|NRCAM_uc003vfe.3_Splice_Site_p.L825_splice|NRCAM_uc003vfc.3_Splice_Site_p.L828_splice	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA.	844					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CATCACTTACGGTCTTCTCCA	0.522													19	35					0	0	1	0	0	A	107823139	G	A	107823139	5	1	139	1	0	0	0	0	0	0	1	0	10644	1130	39	2	1458	2	NRCAM	7	107823139	Splice_Site	SNP	G	TCGA-FG-7636-01A-11D-2086-08		107823139	51315524	24	6342											
CCDC136	64753	broad.mit.edu	37	chr7	128432468	128432468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccctggaacgacgggggatGcaagctatggagggtgagtt	9	8	17	7	2	0	1	0	1	0	0	1	5	1	4	1	5	3	3	1	5	3	2			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr7:128432468G>A	uc003vnv.2	+	0	419	c.3G>A	c.(1-3)atG>atA	p.M1I	CCDC136_uc003vnu.2_Missense_Mutation_p.M51I	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	Homo sapiens coiled-coil domain containing 136 (CCDC136), transcript variant 1, mRNA.	1						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GACGGGGGATGCAAGCTATGG	0.582													15	62					0	0	1	0	0	A	128432468	G	A	128432468	3	1	139	1	0	0	0	0	1	0	0	0	2770	1319	46	3	5	3	CCDC136	7	128432468	Missense_Mutation	SNP	G	TCGA-FG-7636-01A-11D-2086-08	20609329	128432468	30706195	25	6343											
PRKACG	5568	broad.mit.edu	37	chr9	71629038	71629039	+	Splice_Site	INS	-	-	GCGGCG																															gcggcaggggcgggggtctcINSgcggcggcggcggcggcggc																										TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr9:71629038_71629039insGCGGCG	uc004agy.3	-	1	1	c.-30_splice	c.e1-1			NM_002732	NP_002723	P22612	KAPCG_HUMAN	Homo sapiens protein kinase, cAMP-dependent, catalytic, gamma (PRKACG), mRNA.						activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						gcgggggtctcgcggcggcggc	0.752													7	16	---	---	---	---						GCGGCG	71629039	-	GCGGCG	71629038	8	5	139	1	0	1	1	0	0	0	1	0	12499	898	31	0		0	PRKACG	9	71629038	Splice_Site	INS	-	TCGA-FG-7636-01A-11D-2086-08		71629038	69584393	26	6344											
TET1	80312	broad.mit.edu	37	chr10	70451205	70451205	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccatcgcacctgctcaCggctcggttttgattgagtg	5	12	13	11	3	1	2	1	2	0	0	3	2	1	2	2	3	1	4	2	3	0	3			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr10:70451205C>T	uc001jok.4	+	11	6550	c.6045C>T	c.(6043-6045)caC>caT	p.H2015H		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	2015					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CACCTGCTCACGGCTCGGTTT	0.532													81	138					0	0	1	0	0	T	70451205	C	T	70451205	2	4	139	1	0	0	0	0	0	0	0	1	15766	535	19	1		1	TET1	10	70451205	Silent	SNP	C	TCGA-FG-7636-01A-11D-2086-08		70451205	65083542	27	6345											
MUC2	4583	broad.mit.edu	37	chr11	1086051	1086051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtggtggagtccagcaCgggcatcatcgtcatctggg	6	9	15	11	2	3	0	2	0	1	0	5	1	4	1	2	5	1	2	2	5	0	0	rs72655318		TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr11:1086051C>T	uc001lsx.1	+	21	2918	c.2891C>T	c.(2890-2892)aCg>aTg	p.T964M		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	964	VWFD 3.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GAGTCCAGCACGGGCATCATC	0.632													20	28					0	0	1	0	0	T	1086051	C	T	1086051	3	4	139	1	0	0	0	0	1	0	0	0	9975	536	19	1	2977	1	MUC2	11	1086051	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08		1086051	133920465	28	6346											
ZNF143	7702	broad.mit.edu	37	chr11	9499964	9499964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccagagtgcattacaggCggttcagctggaagatggta	11	9	14	7	1	1	3	1	1	0	2	1	4	1	4	1	4	3	4	1	4	3	3			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr11:9499964C>T	uc001mhr.3	+	5	520	c.401C>T	c.(400-402)gCg>gTg	p.A134V	ZNF143_uc009yfu.3_Missense_Mutation_p.A133V|ZNF143_uc010rby.2_Missense_Mutation_p.A103V	NM_003442	NP_003433	P52747	ZN143_HUMAN	Homo sapiens zinc finger protein 143 (ZNF143), mRNA.	134					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		GCATTACAGGCGGTTCAGCTG	0.433													64	89					0	0	1	0	0	T	9499964	C	T	9499964	3	4	139	1	0	0	0	0	1	0	0	0	17729	768	27	1	419	1	ZNF143	11	9499964	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08	8413913	9499964	125506552	29	6347											
AGBL2	79841	broad.mit.edu	37	chr11	47726176	47726176	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctcttggtagacaaaaTggaaaagagctcttggggtt	11	11	13	6	0	2	2	0	0	2	2	2	3	2	3	1	5	1	3	1	5	5	4			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr11:47726176T>C	uc001ngg.3	-	6	807	c.505A>G	c.(505-507)Att>Gtt	p.I169V	AGBL2_uc010rhq.1_Missense_Mutation_p.I131V|AGBL2_uc001ngh.1_Missense_Mutation_p.I113V	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	Homo sapiens ATP/GTP binding protein-like 2 (AGBL2), mRNA.	169					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GTAGACAAAATGGAAAAGAGC	0.428													15	61					0	0	1	0	0	C	47726176	T	C	47726176	3	2	139	1	0	0	0	0	1	0	0	0	376	1464	51	3	2255	3	AGBL2	11	47726176	Missense_Mutation	SNP	T	TCGA-FG-7636-01A-11D-2086-08	38226212	47726176	87280340	30	6348											
VPS37C	55048	broad.mit.edu	37	chr11	60899568	60899569	+	Frame_Shift_Del	DEL	CC	CC	-																															cccggccggggtggcatgctCctctgtggggaccaggagta																										TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr11:60899568_60899569delCC	uc001nqv.1	-	4	851_852	c.791_792delGG	c.(790-792)aggfs	p.R264fs		NM_017966	NP_060436	A5D8V6	VP37C_HUMAN	Homo sapiens vacuolar protein sorting 37 homolog C (S. cerevisiae) (VPS37C), mRNA.	264	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						GTGGCATGCTCCTCTGTGGGGA	0.693													2	4	---	---	---	---						-	60899569	CC	-	60899568	7	5	139	1	0	1	0	1	0	0	0	0	17204	854	30	0	279	0	VPS37C	11	60899568	Frame_Shift_Del	DEL	CC	TCGA-FG-7636-01A-11D-2086-08	13173392	60899568	74106948	31	6349											
IL18	3606	broad.mit.edu	37	chr11	112025712	112025712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttacctataaagtaaagcGtattgtcaataaatttcatt	15	15	4	7	1	2	0	2	0	0	0	2	0	2	0	2	0	2	2	2	0	10	9	rs61734549	by1000genomes	TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr11:112025712G>A	uc001pnb.2	-	1	285	c.65C>T	c.(64-66)aCg>aTg	p.T22M	IL18_uc009yym.2_Missense_Mutation_p.T22M	NM_001562	NP_001553	Q14116	IL18_HUMAN	Homo sapiens interleukin 18 (interferon-gamma-inducing factor) (IL18), transcript variant 1, mRNA.	22					T-helper 1 type immune response|angiogenesis|cell-cell signaling|chemokine biosynthetic process|granulocyte macrophage colony-stimulating factor biosynthetic process|interferon-gamma biosynthetic process|interleukin-13 biosynthetic process|interleukin-2 biosynthetic process|positive regulation of NK T cell proliferation|positive regulation of activated T cell proliferation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-17 production|positive regulation of natural killer cell proliferation|regulation of cell adhesion|sleep|type 2 immune response	cytosol|extracellular space	cytokine activity|signal transducer activity						all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055)		AAAGTAAAGCGTATTGTCAAT	0.343													9	30					0	0	1	0	0	A	112025712	G	A	112025712	3	1	139	1	0	0	0	0	1	0	0	0	7645	1145	40	1	536	1	IL18	11	112025712	Missense_Mutation	SNP	G	TCGA-FG-7636-01A-11D-2086-08	51126144	112025712	22980804	32	6350											
CAPZA3	93661	broad.mit.edu	37	chr12	18891209	18891209	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgcaaccaaacatgacaCttagcgtgctgagcaggaag	13	8	11	9	1	0	2	0	2	0	0	0	3	0	3	1	1	6	4	1	1	4	2			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr12:18891209C>T	uc001rdy.3	+	0	165	c.7C>T	c.(7-9)Ctt>Ttt	p.L3F	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	3					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	p.L3V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AAACATGACACTTAGCGTGCT	0.438													5	85					0	0	1	0	0	T	18891209	C	T	18891209	3	4	139	1	0	0	0	0	1	0	0	0	2642	565	20	3	9	3	CAPZA3	12	18891209	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08		18891209	114960686	33	6351											
KIF21A	55605	broad.mit.edu	37	chr12	39763607	39763607	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctatgtgttttttttcttcaAtactcttaaaaaggtgttta	10	21	5	5	0	3	0	1	0	2	0	3	0	3	0	0	1	1	2	0	1	7	10			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr12:39763607A>G	uc001rly.3	-	2	794	c.374T>C	c.(373-375)aTt>aCt	p.I125T	KIF21A_uc001rlx.3_Missense_Mutation_p.I125T|KIF21A_uc001rlz.3_Missense_Mutation_p.I125T|KIF21A_uc010skl.2_Missense_Mutation_p.I125T	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	125	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTTTTCTTCAATACTCTTAAA	0.338													6	23					0	0	1	0	0	G	39763607	A	G	39763607	3	3	139	1	0	0	0	0	1	0	0	0	8288	101	4	3	4794	3	KIF21A	12	39763607	Missense_Mutation	SNP	A	TCGA-FG-7636-01A-11D-2086-08	20872398	39763607	94088288	34	6352			1	13		2	2	22	A		3.595274e-05
KIF21A	55605	broad.mit.edu	37	chr12	39763628	39763628	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactcttaaaaaggtgtttaAcagctcgagaaataataccc	16	11	6	8	1	1	1	0	0	1	1	2	2	1	1	1	1	4	2	1	1	8	6			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr12:39763628A>C	uc001rly.3	-	2	773	c.353T>G	c.(352-354)gTt>gGt	p.V118G	KIF21A_uc001rlx.3_Missense_Mutation_p.V118G|KIF21A_uc001rlz.3_Missense_Mutation_p.V118G|KIF21A_uc010skl.2_Missense_Mutation_p.V118G	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	118	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AAGGTGTTTAACAGCTCGAGA	0.348													10	38					0	0	1	0	0	C	39763628	A	C	39763628	3	2	139	1	0	0	0	0	1	0	0	0	8288	43	2	5	4815	5	KIF21A	12	39763628	Missense_Mutation	SNP	A	TCGA-FG-7636-01A-11D-2086-08	21	39763628	94088267	35	6353			1	13		2	2	22	A		3.595274e-05
MLL2	8085	broad.mit.edu	37	chr12	49431213	49431213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccagggaaagctgctgttggGacccagccaaactgggagaa	12	5	14	10	0	0	1	0	0	0	1	0	4	0	3	3	3	4	3	3	3	3	1			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr12:49431213G>A	uc001rta.4	-	33	9926	c.9926C>T	c.(9925-9927)tCc>tTc	p.S3309F		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	3309	Gln-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.S3305fs*20(1)|p.S3035fs*20(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CTGCTGTTGGGACCCAGCCAA	0.627			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			9	5					0	0	1	0	0	A	49431213	G	A	49431213	3	1	139	1	0	0	0	0	1	0	0	0	9621	1174	41	3	6771	3	MLL2	12	49431213	Missense_Mutation	SNP	G	TCGA-FG-7636-01A-11D-2086-08	9667585	49431213	84420682	36	6354											
DGKH	160851	broad.mit.edu	37	chr13	42783569	42783569	+	Frame_Shift_Del	DEL	A	A	-																															ggattatcaaaattgtgcacAaaaacagagcacaaatgcta																										TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr13:42783569delA	uc001uyl.2	+	22	2885	c.2818delA	c.(2818-2820)aaafs	p.K940fs	DGKH_uc010tfh.2_Frame_Shift_Del_p.K940fs|DGKH_uc001uym.2_Frame_Shift_Del_p.K940fs|DGKH_uc001uyn.2_Non-coding_Transcript|DGKH_uc010tfi.2_Frame_Shift_Del_p.K695fs|DGKH_uc001uyo.2_Frame_Shift_Del_p.K804fs|DGKH_uc010tfj.2_Frame_Shift_Del_p.K804fs|DGKH_uc001uyp.3_Non-coding_Transcript	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	Homo sapiens diacylglycerol kinase, eta (DGKH), transcript variant 2, mRNA.	940					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		AATTGTGCACAAAAACAGAGC	0.378													40	50	---	---	---	---						-	42783569	A	-	42783569	7	5	139	1	0	1	0	1	0	0	0	0	4470	131	5	0	2908	0	DGKH	13	42783569	Frame_Shift_Del	DEL	A	TCGA-FG-7636-01A-11D-2086-08		42783569	72386309	37	6355											
SLITRK5	26050	broad.mit.edu	37	chr13	88329160	88329160	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacttttgacccggtcccaaAcctccagctgctattcttga	9	12	6	14	1	1	2	0	2	1	0	3	2	3	2	4	1	4	2	4	1	3	5			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr13:88329160A>G	uc001vln.3	+	1	1736	c.1517A>G	c.(1516-1518)aAc>aGc	p.N506S	SLITRK5_uc010tic.1_Missense_Mutation_p.N265S|SLITRK5_uc021rlc.1_Missense_Mutation_p.N506S	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	506						integral to membrane		p.N506I(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCGGTCCCAAACCTCCAGCTG	0.532													31	56					0	0	1	0	0	G	88329160	A	G	88329160	3	3	139	1	0	0	0	0	1	0	0	0	14746	43	2	3	1519	3	SLITRK5	13	88329160	Missense_Mutation	SNP	A	TCGA-FG-7636-01A-11D-2086-08	45545591	88329160	26840718	38	6356											
ZIC5	85416	broad.mit.edu	37	chr13	100623411	100623413	+	In_Frame_Del	DEL	AGG	AGG	-																															gtggtgtagcccgagagggcAggaggaggaggaggcggggg																										TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr13:100623411_100623413delAGG	uc001vom.1	-	0	766_768	c.517_519delCCT	c.(517-519)cctdel	p.P173del		NM_033132	NP_149123	Q96T25	ZIC5_HUMAN	Homo sapiens Zic family member 5 (ZIC5), mRNA.	173	Pro-rich.				cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCGAGAGGGCaggaggaggagga	0.744													2	4	---	---	---	---						-	100623413	AGG	-	100623411	7	5	139	1	0	1	0	1	0	0	0	0	17679	175	7	0	1480	0	ZIC5	13	100623411	In_Frame_Del	DEL	AGG	TCGA-FG-7636-01A-11D-2086-08	12294251	100623411	14546467	39	6357											
BMP4	652	broad.mit.edu	37	chr14	54416985	54416985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcagtagaaggcctggtagCctggtggggccacaatccag	9	6	16	10	0	0	1	0	0	0	1	1	1	1	1	4	6	1	3	4	6	4	2			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr14:54416985C>T	uc001xal.4	-	2	1179	c.992G>A	c.(991-993)gGc>gAc	p.G331D	BMP4_uc010aoh.3_Missense_Mutation_p.G331D|BMP4_uc001xao.4_Missense_Mutation_p.G331D|BMP4_uc001xan.4_Missense_Mutation_p.G331D	NM_130851	NP_570912	P12644	BMP4_HUMAN	Homo sapiens bone morphogenetic protein 4 (BMP4), transcript variant 3, mRNA.	331					BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|SMAD protein signal transduction|activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of MAP kinase activity|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of SMAD protein import into nucleus|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						GGCCTGGTAGCCTGGTGGGGC	0.572													9	59					0	0	1	0	0	T	54416985	C	T	54416985	3	4	139	1	0	0	0	0	1	0	0	0	1462	739	26	3	238	3	BMP4	14	54416985	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08		54416985	52932555	40	6358											
CACNA1H	8912	broad.mit.edu	37	chr16	1251754	1251754	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagtcagctgatgcgggAgcagcgggcacgccacctgt	8	5	17	11	3	1	2	1	1	0	1	1	4	1	3	2	3	4	3	2	3	0	0			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr16:1251754A>G	uc002cks.3	+	8	1552	c.1304A>G	c.(1303-1305)gAg>gGg	p.E435G	CACNA1H_uc002ckt.3_Missense_Mutation_p.E435G	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	435					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CTGATGCGGGAGCAGCGGGCA	0.612													8	14					0	0	1	0	0	G	1251754	A	G	1251754	3	3	139	1	0	0	0	0	1	0	0	0	2545	304	11	4	1334	4	CACNA1H	16	1251754	Missense_Mutation	SNP	A	TCGA-FG-7636-01A-11D-2086-08		1251754	89102999	41	6359											
HPR	3250	broad.mit.edu	37	chr16	72110614	72110614	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttacgtgtctggctggggAcaaagtgacaactttaaact	11	11	12	7	1	1	1	0	1	1	0	1	2	1	2	0	4	3	2	0	4	5	3			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr16:72110614A>G	uc002fby.3	+	4	711	c.681A>G	c.(679-681)ggA>ggG	p.G227G	TXNL4B_uc010cgl.2_Intron	NM_020995	NP_066275	P00739	HPTR_HUMAN	Homo sapiens haptoglobin-related protein (HPR), mRNA.	227	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				CTGGCTGGGGACAAAGTGACA	0.463													7	133					0	0	1	0	0	G	72110614	A	G	72110614	2	3	139	1	0	0	0	0	0	0	0	1	7337	262	10	3		3	HPR	16	72110614	Silent	SNP	A	TCGA-FG-7636-01A-11D-2086-08	70858860	72110614	18244139	42	6360											
ZFHX3	463	broad.mit.edu	37	chr16	72994030	72994031	+	Frame_Shift_Ins	INS	-	-	TCACAGCC																															tccccgagacgacgggcgagINStcacagccttccatggtaag																								rs12922701		TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr16:72994030_72994031insTCACAGCC	uc002fck.3	-	1	687_688	c.14_15insGGCTGTGA	c.(13-15)gacfs	p.D5fs	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	5					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGACGGGCGAGTCACAGCCTTC	0.609													21	167	---	---	---	---						TCACAGCC	72994031	-	TCACAGCC	72994030	7	5	139	1	0	1	1	0	0	0	0	0	17631	1020	36	0	11132	0	ZFHX3	16	72994030	Frame_Shift_Ins	INS	-	TCGA-FG-7636-01A-11D-2086-08	883416	72994030	17360723	43	6361											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			24	3					0	0	1	0	0	A	7577121	G	A	7577121	3	1	139	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-FG-7636-01A-11D-2086-08		7577121	73618089	44	6362											
MUC16	94025	broad.mit.edu	37	chr19	9057582	9057582	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacttttttgggtggtgatgGtcatttgtgttgattctgac	6	19	12	4	0	2	3	1	3	1	0	2	3	2	3	0	3	1	1	0	3	1	6			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr19:9057582G>C	uc002mkp.3	-	2	30068	c.29864C>G	c.(29863-29865)aCc>aGc	p.T9955S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9957	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTGGTGATGGTCATTTGTGT	0.498													47	254					0	0	1	0	0	C	9057582	G	C	9057582	3	2	139	1	0	0	0	0	1	0	0	0	9973	1261	44	5	13987	5	MUC16	19	9057582	Missense_Mutation	SNP	G	TCGA-FG-7636-01A-11D-2086-08		9057582	50071401	45	6363											
MUC16	94025	broad.mit.edu	37	chr19	9068570	9068570	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagaaggatgcattgtgtgTgtatctgtggtggcttctga	8	15	14	4	0	2	2	0	1	2	1	2	3	2	3	0	3	1	3	0	3	3	4			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr19:9068570T>A	uc002mkp.3	-	2	19080	c.18876A>T	c.(18874-18876)acA>acT	p.T6292T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6294	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCATTGTGTGTGTATCTGTGG	0.453													23	128					0	0	1	0	0	A	9068570	T	A	9068570	2	1	139	1	0	0	0	0	0	0	0	1	9973	1683	59	5		5	MUC16	19	9068570	Silent	SNP	T	TCGA-FG-7636-01A-11D-2086-08	10988	9068570	50060413	46	6364											
ANO8	57719	broad.mit.edu	37	chr19	17438523	17438523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggccgatgctttccacgCgctggccgaagggccgctgc	5	7	14	15	5	0	0	0	0	0	0	1	2	1	0	4	3	2	3	4	3	1	1			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr19:17438523C>T	uc002ngf.2	-	13	2552	c.2393G>A	c.(2392-2394)cGc>cAc	p.R798H	ANO8_uc010eap.2_Non-coding_Transcript	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	Homo sapiens anoctamin 8 (ANO8), mRNA.	798						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GCTTTCCACGCGCTGGCCGAA	0.682													21	36					0	0	1	0	0	T	17438523	C	T	17438523	3	4	139	1	0	0	0	0	1	0	0	0	703	768	27	1	1325	1	ANO8	19	17438523	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08	8369953	17438523	41690460	47	6365											
FFAR1	2864	broad.mit.edu	37	chr19	35842815	35842815	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaagccttccggaggccgTgctattcctggggggtgtgc	5	9	15	12	2	0	0	0	0	0	0	2	1	2	1	5	5	3	1	5	5	2	3			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr19:35842815T>C	uc002nzc.2	+	0	371	c.361T>C	c.(361-363)Tgc>Cgc	p.C121R		NM_005303	NP_005294	O14842	FFAR1_HUMAN	Homo sapiens free fatty acid receptor 1 (FFAR1), mRNA.	121					energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	CCGGAGGCCGTGCTATTCCTG	0.677													10	43					0	0	1	0	0	C	35842815	T	C	35842815	3	2	139	1	0	0	0	0	1	0	0	0	5827	1696	59	3	363	3	FFAR1	19	35842815	Missense_Mutation	SNP	T	TCGA-FG-7636-01A-11D-2086-08	18404292	35842815	23286168	48	6366											
GRIN2D	2906	broad.mit.edu	37	chr19	48945567	48945567	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggtcttcgcctgggagcaCctggtgtactggcgcctgcg	3	10	15	13	3	1	0	0	0	1	0	2	1	1	1	3	4	3	2	3	4	1	2			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr19:48945567C>A	uc002pjc.4	+	11	2689	c.2601C>A	c.(2599-2601)caC>caA	p.H867Q	GRIN2D_uc010elx.3_Missense_Mutation_p.H102Q	NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	867						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CCTGGGAGCACCTGGTGTACT	0.647													48	39					1.83081e-24	1.93252e-24	1	1	0	A	48945567	C	A	48945567	3	1	139	1	0	0	0	0	1	0	0	0	6782	506	18	5	2643	5	GRIN2D	19	48945567	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08	13102752	48945567	10183416	49	6367											
PTPRH	5794	broad.mit.edu	37	chr19	55693430	55693430	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctctctcatcttccttacaAagctgaagggcccaaggaga	11	10	8	12	0	3	2	1	1	3	1	6	3	4	2	2	2	2	1	2	2	4	2			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr19:55693430A>T	uc002qjq.3	-	18	3225	c.3152T>A	c.(3151-3153)tTt>tAt	p.F1051Y	PTPRH_uc010esv.3_Missense_Mutation_p.F873Y|SYT5_uc002qjm.1_5'Flank|SYT5_uc002qjp.2_5'Flank|SYT5_uc002qjn.1_5'Flank|SYT5_uc002qjo.1_5'Flank	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	1051	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTTCCTTACAAAGCTGAAGGG	0.622													32	76					0	0	1	0	0	T	55693430	A	T	55693430	3	4	139	1	0	0	0	0	1	0	0	0	12803	14	1	5	203	5	PTPRH	19	55693430	Missense_Mutation	SNP	A	TCGA-FG-7636-01A-11D-2086-08	6747863	55693430	3435553	50	6368											
NLRP9	338321	broad.mit.edu	37	chr19	56244181	56244181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtacagaccaaccagcacGtaaagggattatggcacaag	17	5	10	9	1	0	1	0	0	0	1	0	2	0	2	2	2	3	4	2	2	7	3			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr19:56244181G>A	uc002qly.3	-	1	1044	c.1016C>T	c.(1015-1017)aCg>aTg	p.T339M		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	339	NACHT.					cytoplasm	ATP binding	p.T339M(4)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CAACCAGCACGTAAAGGGATT	0.413													36	29					0	0	1	0	0	A	56244181	G	A	56244181	3	1	139	1	0	0	0	0	1	0	0	0	10484	1145	40	1	1991	1	NLRP9	19	56244181	Missense_Mutation	SNP	G	TCGA-FG-7636-01A-11D-2086-08	550751	56244181	2884802	51	6369											
SRMS	6725	broad.mit.edu	37	chr20	62178604	62178604	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctgtccccgcggcggacActcagctccccgccacaccg	6	4	10	21	5	1	0	1	0	0	0	3	1	3	1	7	2	2	1	7	2	0	0			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr20:62178604A>G	uc002yfi.1	-	0	254	c.213T>C	c.(211-213)agT>agC	p.S71S		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Homo sapiens src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites (SRMS), mRNA.	71	SH3.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CGCGGCGGACACTCAGCTCCC	0.697													7	7					0	0	1	0	0	G	62178604	A	G	62178604	2	3	139	1	0	0	0	0	0	0	0	1	15151	156	6	3		3	SRMS	20	62178604	Silent	SNP	A	TCGA-FG-7636-01A-11D-2086-08		62178604	846916	52	6370											
ATRX	546	broad.mit.edu	37	chrX	76855040	76855046	+	Frame_Shift_Del	DEL	TTTCTTC	TTTCTTC	-																															tttttcccctttttccctttTttcttctttctaaaaacaaa																										TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chrX:76855040_76855046delTTTCTTC	uc004ecp.4	-	24	6022_6028	c.5790_5796delGAAGAAA	c.(5788-5796)aagaagaaafs	p.K1930fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K1892fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K1715fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1930	Poly-Lys.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTTTCCCTTTTTTCTTCTTTCTaaaaa	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						63	73	---	---	---	---						-	76855046	TTTCTTC	-	76855040	7	5	139	1	0	1	0	1	0	0	0	0	1208	1838	64	0	1726	0	ATRX	23	76855040	Frame_Shift_Del	DEL	TTTCTTC	TCGA-FG-7636-01A-11D-2086-08		76855040	78415520	53	6371											
ARID1A	8289	broad.mit.edu	37	chr1	27100381	27100381	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agactacaatgtatcaacagCaacagcaggtgaggagggta	16	6	12	7	0	1	2	1	1	0	1	1	3	1	3	0	3	5	4	0	3	6	3			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr1:27100381C>T	uc001bmv.1	+	16	4466	c.4093C>T	c.(4093-4095)Caa>Taa	p.Q1365*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q1364*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q1365*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q982*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.Q211*|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1365	Gln-rich.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTATCAACAGCAACAGCAGGT	0.498			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								52	99					0	0	1	0	0	T	27100381	C	T	27100381	4	4	140	1	0	0	0	0	0	1	0	0	913	711	25	3	4159	3	ARID1A	1	27100381	Nonsense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08		27100381	222150240	1	6372											
ARID1A	8289	broad.mit.edu	37	chr1	27106229	27106230	+	Frame_Shift_Del	DEL	AG	AG	-																															atttggcattagcccagcacAgagccaccggaacatcaaga																										TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr1:27106229_27106230delAG	uc001bmv.1	+	19	6213_6214	c.5840_5841delAG	c.(5839-5841)cagfs	p.Q1947fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.Q1730fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.Q793fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.Q275fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.Q189fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1947					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.H1949fs*16(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGCCCAGCACAGAGCCACCGGA	0.53			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								22	137	---	---	---	---						-	27106230	AG	-	27106229	7	5	140	1	0	1	0	1	0	0	0	0	913	188	7	0	5918	0	ARID1A	1	27106229	Frame_Shift_Del	DEL	AG	TCGA-FG-7637-01A-11D-2086-08	5848	27106229	222144392	2	6373											
CCDC76	54482	broad.mit.edu	37	chr1	100613719	100613719	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttggagcagtggaattccatTatttccagcgaatgagtagt	11	13	11	6	1	0	1	0	1	0	0	2	4	2	3	2	2	2	2	2	2	4	5			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr1:100613719T>G	uc001dsv.3	+	9	1106	c.1087T>G	c.(1087-1089)Tat>Gat	p.Y363D	CCDC76_uc010ouf.2_Non-coding_Transcript|CCDC76_uc009wea.3_Intron	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN	Homo sapiens coiled-coil domain containing 76 (CCDC76), mRNA.	363					tRNA processing		metal ion binding|methyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)	21		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)		GGAATTCCATTATTTCCAGCG	0.428													34	9					0	0	1	0	0	G	100613719	T	G	100613719	3	3	140	1	0	0	0	0	1	0	0	0	2850	1754	61	5	1125	5	CCDC76	1	100613719	Missense_Mutation	SNP	T	TCGA-FG-7637-01A-11D-2086-08	73507490	100613719	148636902	3	6374											
SYT2	127833	broad.mit.edu	37	chr1	202568369	202568369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatctgctcgaaggggatctCaaagctgaaggactcgttga	12	9	12	8	2	2	2	1	2	2	0	5	5	2	4	0	3	2	3	0	3	4	1			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr1:202568369C>T	uc001gye.3	-	7	1223	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K	SYT2_uc010pqb.2_Missense_Mutation_p.E344K|SYT2_uc009xaf.3_Missense_Mutation_p.E174K	NM_001136504	NP_796376	Q8N9I0	SYT2_HUMAN	Homo sapiens synaptotagmin II (SYT2), transcript variant 2, mRNA.	344	C2 2.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	p.E344Q(2)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	AAGGGGATCTCAAAGCTGAAG	0.522													5	189					0	0	1	0	0	T	202568369	C	T	202568369	3	4	140	1	0	0	0	0	1	0	0	0	15471	835	29	3	237	3	SYT2	1	202568369	Missense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08	101954650	202568369	46682252	4	6375											
HEATR1	55127	broad.mit.edu	37	chr1	236738051	236738051	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataaatatatctagactcttCggatcctcatttaaaaggga	15	13	6	7	1	3	1	1	0	2	1	5	3	4	3	1	2	0	0	1	2	7	7	rs142628625	byFrequency	TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr1:236738051C>T	uc001hyd.2	-	22	3389	c.3237G>A	c.(3235-3237)ccG>ccA	p.P1079P	HEATR1_uc009xgh.2_Intron	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	1079					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTAGACTCTTCGGATCCTCAT	0.423													27	41					0	0	1	0	0	T	236738051	C	T	236738051	2	4	140	1	0	0	0	0	0	0	0	1	7027	871	31	2		2	HEATR1	1	236738051	Silent	SNP	C	TCGA-FG-7637-01A-11D-2086-08	34169682	236738051	12512570	5	6376											
KIF26B	55083	broad.mit.edu	37	chr1	245530297	245530297	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacgttggagcaggcagcCggcagtgagcactacgacgc	9	5	15	12	4	0	2	0	2	0	0	0	4	0	3	1	3	4	5	1	3	1	2			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr1:245530297C>T	uc001ibf.1	+	2	1067	c.627C>T	c.(625-627)gcC>gcT	p.A209A	KIF26B_uc010pyq.1_Silent_p.A209A|KIF26B_uc010pyr.2_Silent_p.A9A	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	209					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGCAGGCAGCCGGCAGTGAGC	0.657													4	35					0	0	1	0	0	T	245530297	C	T	245530297	2	4	140	1	0	0	0	0	0	0	0	1	8295	639	23	2		2	KIF26B	1	245530297	Silent	SNP	C	TCGA-FG-7637-01A-11D-2086-08	8792246	245530297	3720324	6	6377											
OR2G6	391211	broad.mit.edu	37	chr1	248685220	248685220	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaataagaaagacaaaacCatgagctacggtggctgtgt	16	8	11	6	1	0	4	0	2	0	2	0	4	0	4	1	2	3	2	1	2	6	2			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr1:248685220C>T	uc001ien.1	+	0	273	c.273C>T	c.(271-273)acC>acT	p.T91T		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T91T(2)|p.K90E(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAGACAAAACCATGAGCTACG	0.517													55	86					0	0	1	0	0	T	248685220	C	T	248685220	2	4	140	1	0	0	0	0	0	0	0	1	11000	581	21	3		3	OR2G6	1	248685220	Silent	SNP	C	TCGA-FG-7637-01A-11D-2086-08	3154923	248685220	565401	7	6378											
FAM136A	84908	broad.mit.edu	37	chr2	70529219	70529220	+	Splice_Site	INS	-	-	C																															acgggcccgccccctcaccgINScccttcgccgcccttcgccg																										TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr2:70529219_70529220insC	uc002sgq.4	-	1	1	c.-76_splice	c.e1-1		FAM136A_uc010fdp.3_Splice_Site	NM_032822	NP_116211	Q96C01	F136A_HUMAN	Homo sapiens family with sequence similarity 136, member A (FAM136A), mRNA.							mitochondrion	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						CCCCCTCAccgcccttcgccgc	0.777													3	6	---	---	---	---						C	70529220	-	C	70529219	8	5	140	1	0	1	1	0	0	0	1	0	5450	1101	38	0		0	FAM136A	2	70529219	Splice_Site	INS	-	TCGA-FG-7637-01A-11D-2086-08		70529219	172670154	8	6379											
TMEM87B	84910	broad.mit.edu	37	chr2	112813196	112813196	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctgccgctcggtagccGggctcctgccacgccgccgc	2	5	13	21	7	0	0	0	0	0	0	2	0	1	0	8	2	3	3	8	2	1	1			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr2:112813196G>T	uc002thm.2	+	0	397	c.28G>T	c.(28-30)Ggg>Tgg	p.G10W	TMEM87B_uc010fkg.2_Missense_Mutation_p.G10W|TMEM87B_uc010fkh.2_Missense_Mutation_p.G10W	NM_032824	NP_116213	Q96K49	TM87B_HUMAN	Homo sapiens transmembrane protein 87B (TMEM87B), mRNA.	10						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						CTCGGTAGCCGGGCTCCTGCC	0.761													2	6					1	1	1	1	0	T	112813196	G	T	112813196	3	4	140	1	0	0	0	0	1	0	0	0	16208	1116	39	5	30	5	TMEM87B	2	112813196	Missense_Mutation	SNP	G	TCGA-FG-7637-01A-11D-2086-08	42283977	112813196	130386177	9	6380											
ACVR1C	130399	broad.mit.edu	37	chr2	158401021	158401021	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaattgagagcgccagcttGatcattccagccacggtcac	10	8	10	13	2	2	2	2	2	0	1	3	3	3	2	3	1	3	2	3	1	1	3			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr2:158401021G>A	uc002tzk.4	-	4	1122	c.879C>T	c.(877-879)atC>atT	p.I293I	ACVR1C_uc002tzl.4_Silent_p.I213I|ACVR1C_uc010fof.3_Silent_p.I136I|ACVR1C_uc010foe.3_Silent_p.I243I	NM_145259	NP_001104501	Q8NER5	ACV1C_HUMAN	Homo sapiens activin A receptor, type IC (ACVR1C), transcript variant 1, mRNA.	293	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	ATP binding|activin receptor activity, type I|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						GCGCCAGCTTGATCATTCCAG	0.398													4	117					0	0	1	0	0	A	158401021	G	A	158401021	2	1	140	1	0	0	0	0	0	0	0	1	222	1280	45	3		3	ACVR1C	2	158401021	Silent	SNP	G	TCGA-FG-7637-01A-11D-2086-08	45587825	158401021	84798352	10	6381											
TTC30A	92104	broad.mit.edu	37	chr2	178482180	178482180	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatttctccatggtttcaTcatattcattcactgccttt	7	20	4	10	0	5	0	4	0	1	0	6	0	5	0	2	1	1	2	2	1	2	7			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr2:178482180T>C	uc002ulo.3	-	0	1515	c.1250A>G	c.(1249-1251)gAt>gGt	p.D417G		NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	Homo sapiens tetratricopeptide repeat domain 30A (TTC30A), mRNA.	417					cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CATGGTTTCATCATATTCATT	0.423													8	240					0	0	1	0	0	C	178482180	T	C	178482180	3	2	140	1	0	0	0	0	1	0	0	0	16695	1435	50	3	751	3	TTC30A	2	178482180	Missense_Mutation	SNP	T	TCGA-FG-7637-01A-11D-2086-08	20081159	178482180	64717193	11	6382											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								38	43					0	0	1	0	0	T	209113112	C	T	209113112	3	4	140	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08	30630932	209113112	34086261	12	6383											
CCR9	10803	broad.mit.edu	37	chr3	45942529	45942529	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagagtgaagaccatgacCgacatgttccttttgaattt	13	12	8	8	1	0	5	0	3	0	2	1	6	1	5	3	0	0	1	3	0	3	4			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr3:45942529C>T	uc003coz.2	+	2	429	c.249C>T	c.(247-249)acC>acT	p.T83T	LZTFL1_uc003coy.1_Intron|LZTFL1_uc011bak.1_Intron|CCR9_uc010hiv.2_Silent_p.T71T|CCR9_uc003cpa.2_Silent_p.T71T|CCR9_uc021wwv.1_Silent_p.T71T	NM_031200	NP_006632	P51686	CCR9_HUMAN	Homo sapiens chemokine (C-C motif) receptor 9 (CCR9), transcript variant A, mRNA.	83					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		AGACCATGACCGACATGTTCC	0.507													12	278					0	0	1	0	0	T	45942529	C	T	45942529	2	4	140	1	0	0	0	0	0	0	0	1	2948	639	23	2		2	CCR9	3	45942529	Silent	SNP	C	TCGA-FG-7637-01A-11D-2086-08		45942529	152079901	13	6384											
PTPN23	25930	broad.mit.edu	37	chr3	47447437	47447437	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctgtacccatttccagtgCgcagccggcgccttcgccta	5	10	9	17	4	0	0	0	0	0	0	3	0	2	0	6	1	3	2	6	1	2	4			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr3:47447437C>A	uc003crf.1	+	5	543	c.447C>A	c.(445-447)tgC>tgA	p.C149*	PTPN23_uc011baw.1_Nonsense_Mutation_p.C114*|PTPN23_uc011bax.1_Non-coding_Transcript|PTPN23_uc011bay.1_Nonsense_Mutation_p.C19*	NM_015466	NP_056281	Q9H3S7	PTN23_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 23 (PTPN23), mRNA.	149	BRO1.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATTTCCAGTGCGCAGCCGGCG	0.597													4	42					0.014758	0.0150532	1	1	0	A	47447437	C	A	47447437	4	1	140	1	0	0	0	0	0	1	0	0	12788	776	27	5	469	5	PTPN23	3	47447437	Nonsense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08	1504908	47447437	150574993	14	6385											
PIGZ	80235	broad.mit.edu	37	chr3	196675277	196675277	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaccagggtgacgtaggaaCcagacagcagggccagggcg	12	2	17	10	2	0	3	0	1	0	2	0	4	0	4	3	4	2	2	3	4	2	1			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr3:196675277C>A	uc003fxh.3	-	2	638	c.491G>T	c.(490-492)gGt>gTt	p.G164V		NM_025163	NP_079439	Q86VD9	PIGZ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Z (PIGZ), mRNA.	164					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	p.S163F(1)		breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		GACGTAGGAACCAGACAGCAG	0.617													8	27					0.000673444	0.000715534	1	1	0	A	196675277	C	A	196675277	3	1	140	1	0	0	0	0	1	0	0	0	11905	507	18	5	1252	5	PIGZ	3	196675277	Missense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08	149227840	196675277	1347153	15	6386											
FRAS1	80144	broad.mit.edu	37	chr4	79204003	79204003	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtgggaagatggcccttgCaaggtgtgtgagtgccgagg	9	8	18	6	1	0	2	0	1	0	1	0	4	0	3	2	4	2	1	2	4	3	1			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr4:79204003C>A	uc003hlb.2	+	11	1577	c.1137C>A	c.(1135-1137)tgC>tgA	p.C379*	FRAS1_uc003hkw.3_Nonsense_Mutation_p.C379*|FRAS1_uc003hky.1_Nonsense_Mutation_p.C83*|FRAS1_uc003hkz.3_Nonsense_Mutation_p.C83*	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	379	VWFC 6.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATGGCCCTTGCAAGGTGTGTG	0.532													7	117					0.00307968	0.00320538	1	1	0	A	79204003	C	A	79204003	4	1	140	1	0	0	0	0	0	1	0	0	6042	718	25	5	1183	5	FRAS1	4	79204003	Nonsense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08		79204003	111950273	16	6387											
NPNT	255743	broad.mit.edu	37	chr4	106890076	106890076	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaaaggtgaaaaaaggCgtggtcacactggggagatt	13	9	13	6	1	3	2	2	1	1	1	3	3	3	2	0	5	0	0	0	5	4	2	rs139540458		TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr4:106890076C>A	uc011cfd.2	+	12	1930	c.1717C>A	c.(1717-1719)Cgt>Agt	p.R573S	NPNT_uc011cfc.2_Missense_Mutation_p.R560S|NPNT_uc011cfe.2_Missense_Mutation_p.R544S|NPNT_uc003hya.3_Missense_Mutation_p.R543S|NPNT_uc011cff.2_Missense_Mutation_p.R514S	NM_001184691	NP_001171620	Q6UXI9	NPNT_HUMAN	Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA.	543					cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TGAAAAAAGGCGTGGTCACAC	0.448													14	16					2.31682e-05	2.56865e-05	1	1	0	A	106890076	C	A	106890076	3	1	140	1	0	0	0	0	1	0	0	0	10590	768	27	5	1822	5	NPNT	4	106890076	Missense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08	27686073	106890076	84264200	17	6388											
CDKL3	51265	broad.mit.edu	37	chr5	133534841	133534841	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttaccacaacgataacaatAgtttggagcactgaaaatcg	16	9	8	8	2	0	1	0	1	0	0	1	3	0	2	1	1	4	3	1	1	7	4			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr5:133534841A>T	uc003kze.3	-	5	1191	c.793T>A	c.(793-795)Tat>Aat	p.Y265N		NM_002715	NP_002706	Q8IVW4	CDKL3_HUMAN	Homo sapiens protein phosphatase 2, catalytic subunit, alpha isozyme (PPP2CA), mRNA.	0	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGATAACAATAGTTTGGAGCA	0.373													11	93					0	0	1	0	0	T	133534841	A	T	133534841	3	4	140	1	0	0	0	0	1	0	0	0	3155	420	15	5		5	CDKL3	5	133534841	Missense_Mutation	SNP	A	TCGA-FG-7637-01A-11D-2086-08		133534841	47380419	18	6389											
KIF20A	10112	broad.mit.edu	37	chr5	137521298	137521298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggtctgaattggccctacGgcggtcacaaaggttggcag	9	8	15	9	2	2	1	1	1	1	0	2	1	2	1	1	6	1	2	1	6	3	3			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr5:137521298G>A	uc003lcj.3	+	15	2520	c.2024G>A	c.(2023-2025)cGg>cAg	p.R675Q	KIF20A_uc011cyo.2_Missense_Mutation_p.R657Q	NM_005733	NP_005724	O95235	KI20A_HUMAN	Homo sapiens kinesin family member 20A (KIF20A), mRNA.	675					M phase of mitotic cell cycle|cytokinesis|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTGGCCCTACGGCGGTCACAA	0.507													45	115					0	0	1	0	0	A	137521298	G	A	137521298	3	1	140	1	0	0	0	0	1	0	0	0	8286	1116	39	2	2082	2	KIF20A	5	137521298	Missense_Mutation	SNP	G	TCGA-FG-7637-01A-11D-2086-08	3986457	137521298	43393962	19	6390											
RFX6	222546	broad.mit.edu	37	chr6	117246787	117246787	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccctgctctgcaccagtTccctgctgggaacacagaca	9	7	10	15	0	1	1	0	0	1	1	2	2	2	2	3	2	4	4	3	2	1	1			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr6:117246787T>A	uc003pxm.3	+	15	1913	c.1850T>A	c.(1849-1851)tTc>tAc	p.F617Y		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	617					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CTGCACCAGTTCCCTGCTGGG	0.532													6	58					0	0	1	0	0	A	117246787	T	A	117246787	3	1	140	1	0	0	0	0	1	0	0	0	13267	1783	62	5	1912	5	RFX6	6	117246787	Missense_Mutation	SNP	T	TCGA-FG-7637-01A-11D-2086-08		117246787	53868280	20	6391											
NPC1L1	29881	broad.mit.edu	37	chr7	44579720	44579720	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgataccagctgcttggcGgagcagcaggcttgggtgtt	7	10	16	8	1	0	1	0	1	0	0	0	2	0	2	1	4	5	6	1	4	1	4			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr7:44579720G>A	uc003tlb.3	-	1	332	c.276C>T	c.(274-276)tcC>tcT	p.S92S	NPC1L1_uc011kbw.2_Silent_p.S92S|NPC1L1_uc003tlc.3_Silent_p.S92S|NPC1L1_uc003tld.3_Silent_p.S92S	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	92					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	p.S92S(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GCTGCTTGGCGGAGCAGCAGG	0.602													3	51					0	0	1	0	0	A	44579720	G	A	44579720	2	1	140	1	0	0	0	0	0	0	0	1	10571	1103	39	2		2	NPC1L1	7	44579720	Silent	SNP	G	TCGA-FG-7637-01A-11D-2086-08		44579720	114558943	21	6392											
PKD1L1	168507	broad.mit.edu	37	chr7	47882609	47882609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccagtgtcaatgacgaccGcatatagctgatggcccggc	10	7	12	12	3	1	2	1	2	0	0	1	3	1	2	3	2	2	2	3	2	3	2			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr7:47882609G>A	uc003tny.2	-	33	5430	c.5396C>T	c.(5395-5397)gCg>gTg	p.A1799V		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1799	PLAT.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AATGACGACCGCATATAGCTG	0.483													3	68					0	0	1	0	0	A	47882609	G	A	47882609	3	1	140	1	0	0	0	0	1	0	0	0	11964	1087	38	1	3249	1	PKD1L1	7	47882609	Missense_Mutation	SNP	G	TCGA-FG-7637-01A-11D-2086-08	3302889	47882609	111256054	22	6393											
SRPK2	6733	broad.mit.edu	37	chr7	104783594	104783594	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttgtttttagtttcacctCtgggcagtattcgccatcct	5	18	8	10	1	2	0	1	0	1	0	4	0	3	0	3	1	0	5	3	1	2	7			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr7:104783594C>T	uc003vct.3	-	8	1151	c.964G>A	c.(964-966)Gag>Aag	p.E322K	SRPK2_uc003vcu.3_Missense_Mutation_p.E322K|SRPK2_uc003vcv.3_Missense_Mutation_p.E333K|SRPK2_uc003vcw.1_Missense_Mutation_p.E322K	NM_182691	NP_872633	P78362	SRPK2_HUMAN	Homo sapiens SRSF protein kinase 2 (SRPK2), transcript variant 2, mRNA.	322	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						AGTTTCACCTCTGGGCAGTAT	0.498													14	83					0	0	1	0	0	T	104783594	C	T	104783594	3	4	140	1	0	0	0	0	1	0	0	0	15159	922	32	3	1130	3	SRPK2	7	104783594	Missense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08	56900985	104783594	54355069	23	6394											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37730001	37730001	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatgctcccatgggaagaggGggcgccacttcttcagctgc	7	8	14	12	1	2	1	1	0	1	1	3	3	3	2	2	3	3	2	2	3	1	2			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr8:37730001G>A	uc003xkm.2	-	3	2375	c.2319C>T	c.(2317-2319)ccC>ccT	p.P773P	RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_Silent_p.P102P|RAB11FIP1_uc003xko.1_Silent_p.P102P|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	773					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TGGGAAGAGGGGGCGCCACTT	0.557													27	61					0	0	1	0	0	A	37730001	G	A	37730001	2	1	140	1	0	0	0	0	0	0	0	1	12893	1219	43	3		3	RAB11FIP1	8	37730001	Silent	SNP	G	TCGA-FG-7637-01A-11D-2086-08		37730001	108634021	24	6395											
TEK	7010	broad.mit.edu	37	chr9	27172734	27172734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgggtttatgggaaggaCgtgtgagaagggtaagtaaa	12	10	16	3	1	0	1	0	1	0	1	1	4	1	3	1	4	0	3	1	4	6	4			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr9:27172734C>T	uc011lno.2	+	4	1191	c.749C>T	c.(748-750)aCg>aTg	p.T250M	TEK_uc010mjc.1_Missense_Mutation_p.T103M|TEK_uc011lnn.1_Missense_Mutation_p.T250M|TEK_uc003zqi.4_Missense_Mutation_p.T250M|TEK_uc011lnp.2_Missense_Mutation_p.T146M|TEK_uc003zqj.1_Missense_Mutation_p.T227M	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	250	EGF-like 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		ATGGGAAGGACGTGTGAGAAG	0.433													3	51					0	0	1	0	0	T	27172734	C	T	27172734	3	4	140	1	0	0	0	0	1	0	0	0	15748	536	19	1	767	1	TEK	9	27172734	Missense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08		27172734	114040697	25	6396											
ANKRD26	22852	broad.mit.edu	37	chr10	27381396	27381396	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tattaaaaattccaccatttGctgcttttttccacttactg	10	18	3	10	0	0	0	0	0	0	0	2	0	2	0	3	0	3	2	3	0	5	8			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr10:27381396G>C	uc009xku.1	-	3	749	c.577C>G	c.(577-579)Caa>Gaa	p.Q193E	ANKRD26_uc001ith.2_Missense_Mutation_p.Q193E	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	193						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TCCACCATTTGCTGCTTTTTT	0.323													6	23					0	0	1	0	0	C	27381396	G	C	27381396	3	2	140	1	0	0	0	0	1	0	0	0	654	1328	46	5	4679	5	ANKRD26	10	27381396	Missense_Mutation	SNP	G	TCGA-FG-7637-01A-11D-2086-08		27381396	108153351	26	6397											
TLL2	7093	broad.mit.edu	37	chr10	98144479	98144479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgccgtgcagcttggcgtCgggggacaggccgctgcgca	4	6	17	14	5	0	0	0	0	0	0	1	1	0	1	3	4	4	4	3	4	0	1	rs141438733		TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr10:98144479C>T	uc001kml.2	-	15	2300	c.2059G>A	c.(2059-2061)Gac>Aac	p.D687N		NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	687	CUB 3.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AGCTTGGCGTCGGGGGACAGG	0.622													59	100					0	0	1	0	0	T	98144479	C	T	98144479	3	4	140	1	0	0	0	0	1	0	0	0	15943	884	31	2	1012	2	TLL2	10	98144479	Missense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08	70763083	98144479	37390268	27	6398											
MGEA5	10724	broad.mit.edu	37	chr10	103577687	103577687	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggtgccggagctgccggCggctccagcgatgcccccgc	3	4	16	18	6	0	0	0	0	0	0	1	2	1	1	6	4	5	2	6	4	0	0			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr10:103577687C>A	uc001ktv.2	-	0	536	c.93G>T	c.(91-93)ccG>ccT	p.P31P	MGEA5_uc010qqe.1_Silent_p.P31P|MGEA5_uc009xws.2_Silent_p.P31P|MGEA5_uc001ktw.2_Silent_p.P31P|MGEA5_uc009xwt.2_5'UTR|MGEA5_uc010qqf.1_Non-coding_Transcript|LOC100289509_uc021pxh.1_5'Flank	NM_012215	NP_036347	O60502	NCOAT_HUMAN	Homo sapiens meningioma expressed antigen 5 (hyaluronidase) (MGEA5), transcript variant 1, mRNA.	31					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		GAGCTGCCGGCGGCTCCAGCG	0.726													8	7					0.000157383	0.000170778	1	1	0	A	103577687	C	A	103577687	2	1	140	1	0	0	0	0	0	0	0	1	9555	755	27	5		5	MGEA5	10	103577687	Silent	SNP	C	TCGA-FG-7637-01A-11D-2086-08	5433208	103577687	31957060	28	6399											
CUEDC2	79004	broad.mit.edu	37	chr10	104184887	104184887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctacctgaggtcggcctccGggaggtgtgtctggacaaag	7	9	15	10	2	2	1	0	1	2	0	4	3	3	3	3	5	1	0	3	5	2	1			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr10:104184887G>A	uc001kvn.2	-	1	210	c.59C>T	c.(58-60)cCg>cTg	p.P20L	CUEDC2_uc001kvm.2_5'Flank	NM_024040	NP_076945	Q9H467	CUED2_HUMAN	Homo sapiens CUE domain containing 2 (CUEDC2), mRNA.	20						cytoplasm|nucleus	protein binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GTCGGCCTCCGGGAGGTGTGT	0.602													6	74					0	0	1	0	0	A	104184887	G	A	104184887	3	1	140	1	0	0	0	0	1	0	0	0	4053	1116	39	2	836	2	CUEDC2	10	104184887	Missense_Mutation	SNP	G	TCGA-FG-7637-01A-11D-2086-08	607200	104184887	31349860	29	6400											
MUC2	4583	broad.mit.edu	37	chr11	1087506	1087506	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgctcctgtgacacgggtgGggactgtgagtgcttctgct	4	12	16	9	1	1	2	0	2	1	0	2	3	2	3	1	3	3	3	1	3	0	1			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr11:1087506G>A	uc001lsx.1	+	23	3284	c.3257G>A	c.(3256-3258)gGg>gAg	p.G1086E		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1086						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GACACGGGTGGGGACTGTGAG	0.652													15	26					0	0	1	0	0	A	1087506	G	A	1087506	3	1	140	1	0	0	0	0	1	0	0	0	9975	1232	43	3	3351	3	MUC2	11	1087506	Missense_Mutation	SNP	G	TCGA-FG-7637-01A-11D-2086-08		1087506	133919010	30	6401											
OR5D18	219438	broad.mit.edu	37	chr11	55587473	55587473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctgtgatggcctatgaccGcttcgtggccatttgcaacc	7	11	11	12	2	0	2	0	2	0	0	1	2	0	2	4	2	3	3	4	2	2	3			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr11:55587473G>A	uc010rin.2	+	0	368	c.368G>A	c.(367-369)cGc>cAc	p.R123H		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GCCTATGACCGCTTCGTGGCC	0.458													39	124					0	0	1	0	0	A	55587473	G	A	55587473	3	1	140	1	0	0	0	0	1	0	0	0	11157	1087	38	1	370	1	OR5D18	11	55587473	Missense_Mutation	SNP	G	TCGA-FG-7637-01A-11D-2086-08	54499967	55587473	79419043	31	6402											
INPPL1	3636	broad.mit.edu	37	chr11	71942617	71942617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgagaaccgtatcagccatGtcagtacgtccagtgtgaag	12	8	11	10	3	2	2	2	1	0	1	3	3	3	2	3	0	3	2	3	0	4	2			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr11:71942617G>A	uc001osf.3	+	12	1720	c.1573G>A	c.(1573-1575)Gtc>Atc	p.V525I	INPPL1_uc001osg.3_Missense_Mutation_p.V283I	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	525					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	SH2 domain binding|SH3 domain binding|actin binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TATCAGCCATGTCAGTACGTC	0.562													29	58					0	0	1	0	0	A	71942617	G	A	71942617	3	1	140	1	0	0	0	0	1	0	0	0	7761	1377	48	3	1623	3	INPPL1	11	71942617	Missense_Mutation	SNP	G	TCGA-FG-7637-01A-11D-2086-08	16355144	71942617	63063899	32	6403											
LIMA1	51474	broad.mit.edu	37	chr12	50598436	50598436	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtggaagttccagatttcGtctactctcatttttctccg	6	16	8	11	3	3	1	1	0	3	1	7	2	4	2	2	1	1	1	2	1	2	5			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr12:50598436G>A	uc001rwj.4	-	5	937	c.763C>T	c.(763-765)Cga>Tga	p.R255*	LIMA1_uc001rwh.4_Nonsense_Mutation_p.R95*|LIMA1_uc001rwi.4_Nonsense_Mutation_p.R95*|LIMA1_uc001rwk.4_Nonsense_Mutation_p.R255*|LIMA1_uc010sms.2_Non-coding_Transcript|LIMA1_uc010smr.2_Non-coding_Transcript	NM_016357	NP_001230704	Q9UHB6	LIMA1_HUMAN	Homo sapiens LIM domain and actin binding 1 (LIMA1), transcript variant 2, mRNA.	255					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TCCAGATTTCGTCTACTCTCA	0.423													52	63					0	0	1	0	0	A	50598436	G	A	50598436	4	1	140	1	0	0	0	0	0	1	0	0	8796	1153	40	1	1543	1	LIMA1	12	50598436	Nonsense_Mutation	SNP	G	TCGA-FG-7637-01A-11D-2086-08		50598436	83253459	33	6404											
C12orf50	160419	broad.mit.edu	37	chr12	88390403	88390403	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcaatttcttcaggggtctTtgtccataaactagaagcat	11	15	7	8	0	4	1	2	0	2	1	5	1	5	1	1	2	2	1	1	2	5	6			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr12:88390403T>C	uc001tam.1	-	4	478	c.310A>G	c.(310-312)Aag>Gag	p.K104E	C12orf50_uc001tan.3_Missense_Mutation_p.K158E	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	104										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TCAGGGGTCTTTGTCCATAAA	0.289													9	44					0	0	1	0	0	C	88390403	T	C	88390403	3	2	140	1	0	0	0	0	1	0	0	0	1695	1850	64	3	970	3	C12orf50	12	88390403	Missense_Mutation	SNP	T	TCGA-FG-7637-01A-11D-2086-08	37791967	88390403	45461492	34	6405											
GPR180	160897	broad.mit.edu	37	chr13	95273351	95273351	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttttgacatcgcttcccaAattcagatgttatacttact	10	17	5	9	1	1	2	1	1	0	1	3	2	2	2	1	0	2	3	1	0	4	7			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr13:95273351A>G	uc001vly.3	+	5	834	c.756A>G	c.(754-756)caA>caG	p.Q252Q	GPR180_uc001vlz.3_Silent_p.Q151Q|GPR180_uc010afi.3_Silent_p.Q13Q	NM_180989	NP_851320	Q86V85	GP180_HUMAN	Homo sapiens G protein-coupled receptor 180 (GPR180), mRNA.	252						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					TCGCTTCCCAAATTCAGATGT	0.373													9	42					0	0	1	0	0	G	95273351	A	G	95273351	2	3	140	1	0	0	0	0	0	0	0	1	6676	11	1	3		3	GPR180	13	95273351	Silent	SNP	A	TCGA-FG-7637-01A-11D-2086-08		95273351	19896527	35	6406											
SEL1L	6400	broad.mit.edu	37	chr14	81946063	81946063	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcagctgccatgtcataaaAacgtttcgcaaggtgaatat	13	12	8	8	2	2	1	2	1	0	0	3	1	2	1	1	1	3	3	1	1	6	4			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr14:81946063A>C	uc010tvv.2	-	19	2185	c.2068T>G	c.(2068-2070)Ttt>Gtt	p.F690V		NM_005065	NP_005056	Q9UBV2	SE1L1_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like (C. elegans) (SEL1L), transcript variant 1, mRNA.	690	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		ATGTCATAAAAACGTTTCGCA	0.383													11	50					0	0	1	0	0	C	81946063	A	C	81946063	3	2	140	1	0	0	0	0	1	0	0	0	14010	14	1	5	324	5	SEL1L	14	81946063	Missense_Mutation	SNP	A	TCGA-FG-7637-01A-11D-2086-08		81946063	25403477	36	6407											
ABCA3	21	broad.mit.edu	37	chr16	2374516	2374516	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagtcctcaaagtccttctcGgagggaaagccgcgcactgc	9	8	11	13	3	2	0	1	0	1	0	5	2	4	2	3	2	2	1	3	2	3	2	rs138952710	by1000genomes	TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr16:2374516G>A	uc002cpy.1	-	5	1048	c.336C>T	c.(334-336)tcC>tcT	p.S112S	ABCA3_uc010bsk.1_Silent_p.S112S|ABCA3_uc010bsl.1_Silent_p.S112S|ABCA3_uc002cpz.1_Silent_p.S112S	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	112					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				AGTCCTTCTCGGAGGGAAAGC	0.587													23	41					0	0	1	0	0	A	2374516	G	A	2374516	2	1	140	1	0	0	0	0	0	0	0	1	33	1103	39	2		2	ABCA3	16	2374516	Silent	SNP	G	TCGA-FG-7637-01A-11D-2086-08		2374516	87980237	37	6408											
RAB34	83871	broad.mit.edu	37	chr17	27042713	27042713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgaacctctcctgcccagCggtatcccaactggaaggaa	10	9	9	13	1	1	1	0	1	1	0	3	3	2	3	4	3	4	1	4	3	5	2			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr17:27042713C>T	uc010was.1	-	5	497	c.496G>A	c.(496-498)Gct>Act	p.A166T	RAB34_uc002hce.2_Missense_Mutation_p.A109T|RAB34_uc002hcg.2_Missense_Mutation_p.A109T|RAB34_uc010wat.1_Missense_Mutation_p.A166T|RAB34_uc002hch.2_Missense_Mutation_p.A109T|RAB34_uc010wau.1_Missense_Mutation_p.A87T|RAB34_uc010wav.1_Missense_Mutation_p.A167T	NM_001144943	NP_114140	Q9BZG1	RAB34_HUMAN	Homo sapiens RAB34, member RAS oncogene family (RAB34), transcript variant 8, mRNA.	109					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					TCCTGCCCAGCGGTATCCCAA	0.547													5	175					0	0	1	0	0	T	27042713	C	T	27042713	3	4	140	1	0	0	0	0	1	0	0	0	12924	768	27	1	542	1	RAB34	17	27042713	Missense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08		27042713	54152497	38	6409											
NLE1	54475	broad.mit.edu	37	chr17	33464163	33464163	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagttgtgtcccagatccGcacactgccatccttggagc	7	10	10	14	1	0	1	0	0	0	1	3	2	3	2	4	1	3	3	4	1	0	2			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr17:33464163G>A	uc002hiy.1	-	6	713	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	NLE1_uc002hiz.1_5'UTR	NM_018096	NP_060566	Q9NVX2	NLE1_HUMAN	Homo sapiens notchless homolog 1 (Drosophila) (NLE1), transcript variant 1, mRNA.	229						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				TCCCAGATCCGCACACTGCCA	0.617													18	32					0	0	1	0	0	A	33464163	G	A	33464163	3	1	140	1	0	0	0	0	1	0	0	0	10460	1086	38	1	800	1	NLE1	17	33464163	Missense_Mutation	SNP	G	TCGA-FG-7637-01A-11D-2086-08	6421450	33464163	47731047	39	6410											
HDGFRP2	84717	broad.mit.edu	37	chr19	4493799	4493801	+	In_Frame_Del	DEL	TCC	TCC	-																															cggcgtcctcctcctcctctTcctcctcctcctccgactcc																										TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr19:4493799_4493801delTCC	uc002mao.3	+	6	871_873	c.778_780delTCC	c.(778-780)tccdel	p.S264del	HDGFRP2_uc002map.3_In_Frame_Del_p.S264del|HDGFRP2_uc010dtz.1_Non-coding_Transcript	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	Homo sapiens hepatoma-derived growth factor-related protein 2 (HDGFRP2), transcript variant 1, mRNA.	264	Ser-rich.				transcription, DNA-dependent	nucleus	DNA binding|protein binding										ctcctcctcttcctcctcctcct	0.675													2	4	---	---	---	---						-	4493801	TCC	-	4493799	7	5	140	1	0	1	0	1	0	0	0	0	7020	1783	62	0	804	0	HDGFRP2	19	4493799	In_Frame_Del	DEL	TCC	TCGA-FG-7637-01A-11D-2086-08		4493799	54635184	40	6411											
FTCD	10841	broad.mit.edu	37	chr21	47574183	47574183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggttggtggaagggcctgCgtccacatccagcagcacgc	7	6	15	13	3	0	0	0	0	0	0	2	1	2	1	3	4	3	3	3	4	1	1			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr21:47574183C>T	uc002zig.3	-	1	162	c.118G>A	c.(118-120)Gca>Aca	p.A40T	FTCD_uc002zif.3_Missense_Mutation_p.A40T|FTCD_uc002zih.3_Missense_Mutation_p.A40T|FTCD_uc010gqf.3_Missense_Mutation_p.A40T|FTCD_uc010gqg.1_5'UTR			O95954	FTCD_HUMAN	Homo sapiens formiminotransferase cyclodeaminase (FTCD), transcript variant B, mRNA.	40	Formiminotransferase N-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	Golgi apparatus|centriole|cytosol	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GAAGGGCCTGCGTCCACATCC	0.677													3	44					0	0	1	0	0	T	47574183	C	T	47574183	3	4	140	1	0	0	0	0	1	0	0	0	6081	768	27	1	1559	1	FTCD	21	47574183	Missense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08		47574183	555712	41	6412											
TOM1	10043	broad.mit.edu	37	chr22	35726358	35726358	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagctcaaccgcacgtgcCgagccatgcagcagcgggtc	9	4	14	14	4	1	0	1	0	0	0	2	2	1	1	3	2	7	4	3	2	1	0			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr22:35726358C>G	uc003ann.3	+	7	909	c.784C>G	c.(784-786)Cga>Gga	p.R262G	TOM1_uc011ami.2_Missense_Mutation_p.R229G|TOM1_uc003anp.3_Missense_Mutation_p.R262G|TOM1_uc011aml.2_Missense_Mutation_p.R217G|TOM1_uc011amk.2_Missense_Mutation_p.R224G|TOM1_uc003ano.3_Non-coding_Transcript|TOM1_uc011amj.2_Missense_Mutation_p.R105G	NM_005488	NP_005479	O60784	TOM1_HUMAN	Homo sapiens target of myb1 (chicken) (TOM1), transcript variant 1, mRNA.	262	GAT.				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding	p.C261Y(1)		NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						CCGCACGTGCCGAGCCATGCA	0.537													88	77					0	0	1	0	0	G	35726358	C	G	35726358	3	3	140	1	0	0	0	0	1	0	0	0	16348	644	23	5	814	5	TOM1	22	35726358	Missense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08		35726358	15578208	42	6413											
LCE5A	254910	broad.mit.edu	37	chr1	152484246	152484246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggccccgccagtccctccGacgccgacctcagagttcca	7	5	9	20	4	1	1	1	0	0	1	4	3	4	1	8	1	0	1	8	1	0	1			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr1:152484246G>A	uc021oyx.1	+	0	236	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	LCE5A_uc001ezy.3_Missense_Mutation_p.R79Q|CRCT1_uc001ezz.3_5'Flank	NM_178438	NP_848525	Q5TCM9	LCE5A_HUMAN	Homo sapiens late cornified envelope 5A (LCE5A), mRNA.	79	Cys-rich.				keratinization					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGTCCCTCCGACGCCGACCT	0.682													19	16					0	0	1	0	0	A	152484246	G	A	152484246	3	1	141	1	0	0	0	0	1	0	0	0	8675	1058	37	2	238	2	LCE5A	1	152484246	Missense_Mutation	SNP	G	TCGA-FG-7638-01B-11D-2086-08		152484246	96766375	1	6414											
ASXL2	55252	broad.mit.edu	37	chr2	25973090	25973094	+	Frame_Shift_Del	DEL	TTCTT	TTCTT	-																															tcaccttggctttcacactcTtcttttctgcctggtgatga																										TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr2:25973090_25973094delTTCTT	uc002rgs.2	-	10	1552_1556	c.1331_1335delAAGAA	c.(1330-1335)aaagaafs	p.K444fs	ASXL2_uc002rgt.1_Frame_Shift_Del_p.K184fs	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCACACTCTTCTTTTCTGCCTGG	0.473													9	376	---	---	---	---						-	25973094	TTCTT	-	25973090	7	5	141	1	0	1	0	1	0	0	0	0	1067	1606	56	0	2980	0	ASXL2	2	25973090	Frame_Shift_Del	DEL	TTCTT	TCGA-FG-7638-01B-11D-2086-08		25973090	217226283	2	6415											
GTF3C3	9330	broad.mit.edu	37	chr2	197657737	197657737	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaatacaaatacatcgccCgcagtgggttgctcaggtgt	10	10	10	11	2	1	0	1	0	0	0	3	0	2	0	2	2	3	3	2	2	4	3			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr2:197657737C>T	uc002uts.3	-	2	511	c.354G>A	c.(352-354)gcG>gcA	p.A118A	GTF3C3_uc010zgu.2_Silent_p.A118A|GTF3C3_uc002utu.3_Silent_p.A118A	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 3, 102kDa (GTF3C3), transcript variant 1, mRNA.	118						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ATACATCGCCCGCAGTGGGTT	0.403													16	32					0	0	1	0	0	T	197657737	C	T	197657737	2	4	141	1	0	0	0	0	0	0	0	1	6874	639	23	2		2	GTF3C3	2	197657737	Silent	SNP	C	TCGA-FG-7638-01B-11D-2086-08	171684647	197657737	45541636	3	6416											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								28	51					0	0	1	0	0	T	209113112	C	T	209113112	3	4	141	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-7638-01B-11D-2086-08	11455375	209113112	34086261	4	6417											
DNAJB3	414061	broad.mit.edu	37	chr2	234652338	234652338	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgccgcctgtgcagccGccctccgcccccgcctcgcc	1	5	11	24	5	0	0	0	0	0	0	2	0	1	0	10	1	3	1	10	1	0	0			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr2:234652338G>A	uc002vuz.3	-	0	324	c.225C>T	c.(223-225)ggC>ggT	p.G75G	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc002vuw.3_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 3 (DNAJB3), mRNA.	75					protein folding		heat shock protein binding|unfolded protein binding										CTGTGCAGCCGCCCTCCGCCC	0.652													69	86					0	0	1	0	0	A	234652338	G	A	234652338	2	1	141	1	0	0	0	0	0	0	0	1	4621	1074	38	1		1	DNAJB3	2	234652338	Silent	SNP	G	TCGA-FG-7638-01B-11D-2086-08	25539226	234652338	8547035	5	6418											
ZPLD1	131368	broad.mit.edu	37	chr3	102181219	102181219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaagccactaatttggatgGcaggtaatttcaaactcttg	12	12	8	9	0	2	0	1	0	1	0	2	1	2	1	2	3	2	2	2	3	4	5	rs150699636		TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr3:102181219G>A	uc003dvt.1	+	5	825	c.725G>A	c.(724-726)gGc>gAc	p.G242D	ZPLD1_uc003dvs.1_Missense_Mutation_p.G226D|ZPLD1_uc011bhg.1_Missense_Mutation_p.G226D	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	226	ZP.			N -> S (in Ref. 3; AAH31261).		integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						AATTTGGATGGCAGGTAATTT	0.358													12	16					0	0	1	0	0	A	102181219	G	A	102181219	3	1	141	1	0	0	0	0	1	0	0	0	18218	1203	42	3	747	3	ZPLD1	3	102181219	Missense_Mutation	SNP	G	TCGA-FG-7638-01B-11D-2086-08		102181219	95841211	6	6419											
GPRIN1	114787	broad.mit.edu	37	chr5	176026758	176026758	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatcctgtgggcagaagaaGgctgtgggtcggggtcctgg	6	8	18	9	1	0	2	0	0	0	2	3	2	2	2	3	6	0	2	3	6	2	0			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr5:176026758G>A	uc003meo.1	-	1	253	c.78C>T	c.(76-78)gcC>gcT	p.A26A	GPRIN1_uc021yif.1_Silent_p.A26A	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 1 (GPRIN1), mRNA.	26						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCAGAAGAAGGCTGTGGGTC	0.642													20	32					0	0	1	0	0	A	176026758	G	A	176026758	2	1	141	1	0	0	0	0	0	0	0	1	6729	987	35	3		3	GPRIN1	5	176026758	Silent	SNP	G	TCGA-FG-7638-01B-11D-2086-08		176026758	4888502	7	6420											
TRRAP	8295	broad.mit.edu	37	chr7	98576479	98576479	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctacctcgtcctggagtgCgcctggcgggtgtccaactg	4	9	13	15	3	0	0	0	0	0	0	3	1	2	1	5	3	3	0	5	3	2	1			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr7:98576479C>T	uc003upp.3	+	56	8774	c.8565C>T	c.(8563-8565)tgC>tgT	p.C2855C	TRRAP_uc011kis.2_Silent_p.C2837C|TRRAP_uc003upr.3_Silent_p.C2554C	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2855	FAT.				histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.C2837C(1)|p.C2855C(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCCTGGAGTGCGCCTGGCGGG	0.617													4	71					0	0	1	0	0	T	98576479	C	T	98576479	2	4	141	1	0	0	0	0	0	0	0	1	16598	776	27	1		1	TRRAP	7	98576479	Silent	SNP	C	TCGA-FG-7638-01B-11D-2086-08		98576479	60562184	8	6421											
NEFM	4741	broad.mit.edu	37	chr8	24772187	24772187	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgaagagtggttcaaatGccgctacgccaagctcaccg	10	6	12	13	4	2	1	2	0	0	1	2	2	2	1	4	2	3	3	4	2	4	2			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr8:24772187G>C	uc003xed.4	+	0	914	c.881G>C	c.(880-882)tGc>tCc	p.C294S	NEFM_uc011lac.1_Missense_Mutation_p.C294S|NEFM_uc010lue.3_5'Flank|AK308605_uc010luc.2_5'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	294	Coil 2B.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TGGTTCAAATGCCGCTACGCC	0.602													6	55					0	0	1	0	0	C	24772187	G	C	24772187	3	2	141	1	0	0	0	0	1	0	0	0	10316	1319	46	5	883	5	NEFM	8	24772187	Missense_Mutation	SNP	G	TCGA-FG-7638-01B-11D-2086-08		24772187	121591835	9	6422											
ZFAND5	7763	broad.mit.edu	37	chr9	74970965	74970965	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatacggacagttgtgcttGtcagagtaacggtgaagtcc	10	11	12	8	2	2	2	2	1	0	1	3	3	3	3	1	2	3	3	1	2	3	4			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr9:74970965G>A	uc010moy.1	-	5	827	c.546C>T	c.(544-546)gaC>gaT	p.D182D	ZFAND5_uc010mox.1_Silent_p.D79D|ZFAND5_uc004aix.2_Silent_p.D182D|ZFAND5_uc004aiw.2_Silent_p.D182D|ZFAND5_uc004aiy.2_Silent_p.D182D	NM_006007	NP_005998	O76080	ZFAN5_HUMAN	Homo sapiens zinc finger, AN1-type domain 5 (ZFAND5), transcript variant c, mRNA.	182							DNA binding|zinc ion binding			cervix(1)|kidney(2)|lung(2)|prostate(1)	6						AGTTGTGCTTGTCAGAGTAAC	0.378													31	39					0	0	1	0	0	A	74970965	G	A	74970965	2	1	141	1	0	0	0	0	0	0	0	1	17627	1368	48	3		3	ZFAND5	9	74970965	Silent	SNP	G	TCGA-FG-7638-01B-11D-2086-08		74970965	66242466	10	6423											
ST6GALNAC4	27090	broad.mit.edu	37	chr9	130672316	130672316	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggtgaaccagccggtgctGaggaaggagcccgactgcct	9	6	15	11	2	0	2	0	2	0	0	0	5	0	4	4	4	5	1	4	4	2	0			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr9:130672316G>C	uc004bss.3	-	4	909	c.633C>G	c.(631-633)ctC>ctG	p.L211L	ST6GALNAC4_uc004bst.3_Silent_p.L127L	NM_175039	NP_778205	Q9H4F1	SIA7D_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 (ST6GALNAC4), transcript variant 1, mRNA.	211					glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						AGCCGGTGCTGAGGAAGGAGC	0.642													14	33					0	0	1	0	0	C	130672316	G	C	130672316	2	2	141	1	0	0	0	0	0	0	0	1	15225	1277	45	5		5	ST6GALNAC4	9	130672316	Silent	SNP	G	TCGA-FG-7638-01B-11D-2086-08	55701351	130672316	10541115	11	6424											
NOTCH1	4851	broad.mit.edu	37	chr9	139412302	139412302	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgacgtcgatctcgcatCgggggcccgtgtagccctgc	4	9	14	14	6	1	1	0	1	1	0	4	2	1	1	2	2	2	3	2	2	1	2			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr9:139412302C>A	uc004chz.3	-	7	1343	c.1343G>T	c.(1342-1344)cGa>cTa	p.R448L		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	448	EGF-like 11; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GATCTCGCATCGGGGGCCCGT	0.647			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			6	90					5.18039e-06	5.18039e-06	1	1	0	A	139412302	C	A	139412302	3	1	141	1	0	0	0	0	1	0	0	0	10547	884	31	5	6432	5	NOTCH1	9	139412302	Missense_Mutation	SNP	C	TCGA-FG-7638-01B-11D-2086-08	8739986	139412302	1801129	12	6425											
DPY19L2	283417	broad.mit.edu	37	chr12	64057543	64057543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaagaaacctaaccatttCagtgcgaaaagtcatctccc	16	8	6	11	1	3	2	2	0	1	2	4	3	3	2	3	0	3	0	3	0	6	2			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr12:64057543C>T	uc001srp.1	-	2	626	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	DPY19L2_uc009zqk.1_Intron	NM_173812	NP_776173	Q6NUT2	D19L2_HUMAN	Homo sapiens dpy-19-like 2 (C. elegans) (DPY19L2), mRNA.	149					multicellular organismal development|spermatid development	integral to membrane		p.E149*(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CTAACCATTTCAGTGCGAAAA	0.333													27	54					0	0	1	0	0	T	64057543	C	T	64057543	3	4	141	1	0	0	0	0	1	0	0	0	4741	835	29	3	1911	3	DPY19L2	12	64057543	Missense_Mutation	SNP	C	TCGA-FG-7638-01B-11D-2086-08		64057543	69794352	13	6426											
TMEM19	55266	broad.mit.edu	37	chr12	72091160	72091160	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccccggggaaatcccagtCgatttttccaagcagtactc	9	9	10	13	2	0	0	0	0	0	0	4	2	2	1	4	3	2	2	4	3	3	3			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr12:72091160C>T	uc001sws.3	+	3	1066	c.483C>T	c.(481-483)gtC>gtT	p.V161V	TMEM19_uc001swr.1_Silent_p.V147V	NM_018279	NP_060749	Q96HH6	TMM19_HUMAN	Homo sapiens transmembrane protein 19 (TMEM19), mRNA.	161						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		AAATCCCAGTCGATTTTTCCA	0.532													8	92					0	0	1	0	0	T	72091160	C	T	72091160	2	4	141	1	0	0	0	0	0	0	0	1	16110	871	31	2		2	TMEM19	12	72091160	Silent	SNP	C	TCGA-FG-7638-01B-11D-2086-08	8033617	72091160	61760735	14	6427											
CNTNAP4	85445	broad.mit.edu	37	chr16	76482070	76482070	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatggagatcacatcacaCtgcaattaagaagagcaaga	19	6	8	8	0	2	4	2	0	0	4	2	5	2	4	0	1	2	2	0	1	5	1			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr16:76482070C>T	uc002fex.1	+	3	848	c.709C>T	c.(709-711)Ctg>Ttg	p.L237L	CNTNAP4_uc002feu.1_Silent_p.L233L|CNTNAP4_uc002fev.1_Silent_p.L146L|CNTNAP4_uc010chb.1_Silent_p.L209L|CNTNAP4_uc002few.2_Silent_p.L209L	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	234	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TCACATCACACTGCAATTAAG	0.368													3	43					0	0	1	0	0	T	76482070	C	T	76482070	2	4	141	1	0	0	0	0	0	0	0	1	3649	564	20	3		3	CNTNAP4	16	76482070	Silent	SNP	C	TCGA-FG-7638-01B-11D-2086-08		76482070	13872683	15	6428											
DNAH9	1770	broad.mit.edu	37	chr17	11554444	11554444	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagagatgaaacacatgcCtgagacagcagcagccatgt	15	5	11	10	0	0	4	0	2	0	3	0	6	0	4	2	0	5	2	2	0	1	0			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr17:11554444C>A	uc002gne.3	+	12	2224	c.2156C>A	c.(2155-2157)cCt>cAt	p.P719H	DNAH9_uc010coo.3_Missense_Mutation_p.P13H	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	719	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAACACATGCCTGAGACAGCA	0.433													73	114					7.68447e-34	8.29923e-34	1	1	0	A	11554444	C	A	11554444	3	1	141	1	0	0	0	0	1	0	0	0	4608	681	24	5	2206	5	DNAH9	17	11554444	Missense_Mutation	SNP	C	TCGA-FG-7638-01B-11D-2086-08		11554444	69640766	16	6429											
UTS2R	2837	broad.mit.edu	37	chr17	80332481	80332481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctacgtggtcaacctggCgctggccgacctgctgtacc	5	9	12	15	4	2	0	1	0	1	0	2	1	2	0	4	3	4	3	4	3	3	2			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr17:80332481C>T	uc010wvl.2	+	0	281	c.281C>T	c.(280-282)gCg>gTg	p.A94V		NM_018949	NP_061822	Q9UKP6	UR2R_HUMAN	Homo sapiens urotensin 2 receptor (UTS2R), mRNA.	94						integral to membrane|plasma membrane				breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			GTCAACCTGGCGCTGGCCGAC	0.662													7	12					0	0	1	0	0	T	80332481	C	T	80332481	3	4	141	1	0	0	0	0	1	0	0	0	17103	768	27	1	283	1	UTS2R	17	80332481	Missense_Mutation	SNP	C	TCGA-FG-7638-01B-11D-2086-08	68778037	80332481	862729	17	6430											
MUC16	94025	broad.mit.edu	37	chr19	9090831	9090831	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcttagtgtcatggaaaaAgggatagctgagttgggcat	11	12	14	4	0	1	1	1	1	0	0	1	3	1	3	0	3	2	4	0	3	4	4			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr19:9090831A>G	uc002mkp.3	-	0	1188	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	328	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522													4	84					0	0	1	0	0	G	9090831	A	G	9090831	2	3	141	1	0	0	0	0	0	0	0	1	9973	59	3	4		4	MUC16	19	9090831	Silent	SNP	A	TCGA-FG-7638-01B-11D-2086-08		9090831	50038152	18	6431											
CIC	23152	broad.mit.edu	37	chr19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcttcagcaagcggcacCgggccctggtccaccagcgt	7	7	12	15	3	2	1	1	1	1	0	3	1	3	1	4	3	3	2	4	3	1	1			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr19:42791757C>T	uc002otf.1	+	4	683	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215W(8)|p.R215Q(2)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612			"Mis, F, S"		oligodendroglioma								36	20					0	0	1	0	0	T	42791757	C	T	42791757	3	4	141	1	0	0	0	0	1	0	0	0	3424	643	23	2	661	2	CIC	19	42791757	Missense_Mutation	SNP	C	TCGA-FG-7638-01B-11D-2086-08	33700926	42791757	16337226	19	6432											
CIC	23152	broad.mit.edu	37	chr19	42793431	42793431	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagggaggtgccttggcGgccactgggcggcccccgct	3	6	19	13	3	0	1	0	1	0	0	0	2	0	2	4	7	1	1	4	7	0	1			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr19:42793431G>A	uc002otf.1	+	7	1273	c.1233G>A	c.(1231-1233)gcG>gcA	p.A411A		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GTGCCTTGGCGGCCACTGGGC	0.637			"Mis, F, S"		oligodendroglioma								27	9					0	0	1	0	0	A	42793431	G	A	42793431	2	1	141	1	0	0	0	0	0	0	0	1	3424	1103	39	2		2	CIC	19	42793431	Silent	SNP	G	TCGA-FG-7638-01B-11D-2086-08	1674	42793431	16335552	20	6433											
KIR2DL1	3802	broad.mit.edu	37	chr19	55285075	55285075	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgaccctctggacatcGtgatcataggtgagagtgtc	9	10	12	10	1	2	3	1	3	1	1	4	5	2	4	2	2	0	0	2	2	1	1			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr19:55285075G>A	uc010erz.1	+	2	399	c.361G>A	c.(361-363)Gtg>Atg	p.V121M	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron|GQ422373_uc021vbl.1_5'Flank|KIR2DL1_uc002qhb.1_Missense_Mutation_p.V121M	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	121					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		TCTGGACATCGTGATCATAGG	0.517													10	193					0	0	1	0	0	A	55285075	G	A	55285075	3	1	141	1	0	0	0	0	1	0	0	0	8316	1145	40	1	371	1	KIR2DL1	19	55285075	Missense_Mutation	SNP	G	TCGA-FG-7638-01B-11D-2086-08	12491644	55285075	3843908	21	6434											
KAL1	3730	broad.mit.edu	37	chrX	8503844	8503844	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttagctagcaccttagaaaGaacatgacctgcagcaatgc	14	8	8	11	0	0	3	0	1	0	2	0	3	0	3	2	0	6	4	2	0	6	3			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chrX:8503844G>T	uc004csf.3	-	11	1780	c.1630C>A	c.(1630-1632)Ctt>Att	p.L544I		NM_000216	NP_000207	P23352	KALM_HUMAN	Homo sapiens Kallmann syndrome 1 sequence (KAL1), mRNA.	544					axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						ACCTTAGAAAGAACATGACCT	0.483													18	36					1.66031e-10	1.72416e-10	1	1	0	T	8503844	G	T	8503844	3	4	141	1	0	0	0	0	1	0	0	0	7974	942	33	5	424	5	KAL1	23	8503844	Missense_Mutation	SNP	G	TCGA-FG-7638-01B-11D-2086-08		8503844	146766716	22	6435											
USP11	8237	broad.mit.edu	37	chrX	47104794	47104794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgtgaagcatgactgcgtcgGgtacgtgatgaagaaggctc	10	8	15	8	4	0	5	0	4	0	1	2	5	0	5	0	2	3	3	0	2	4	1			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chrX:47104794G>A	uc004dhp.3	+	16	2312	c.2312G>A	c.(2311-2313)gGg>gAg	p.G771E	USP11_uc004dhq.3_Missense_Mutation_p.G497E	NM_004651	NP_004642	P51784	UBP11_HUMAN	Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.	771					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GACTGCGTCGGGTACGTGATG	0.597													16	38					0	0	1	0	0	A	47104794	G	A	47104794	3	1	141	1	0	0	0	0	1	0	0	0	17039	1232	43	3	2378	3	USP11	23	47104794	Missense_Mutation	SNP	G	TCGA-FG-7638-01B-11D-2086-08	38600950	47104794	108165766	23	6436											
ATRX	546	broad.mit.edu	37	chrX	76937357	76937357	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctttccctcaattctattcTtttcagtctcttatcagaag	8	19	3	11	0	7	1	3	0	4	1	9	1	8	1	1	0	0	0	1	0	4	7			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chrX:76937357T>C	uc004ecp.4	-	8	3623	c.3391A>G	c.(3391-3393)Aga>Gga	p.R1131G	ATRX_uc004ecq.4_Missense_Mutation_p.R1093G|ATRX_uc004eco.4_Missense_Mutation_p.R916G|ATRX_uc004ecr.2_Missense_Mutation_p.R1063G|ATRX_uc010nlx.1_Missense_Mutation_p.R1102G|ATRX_uc010nly.1_Missense_Mutation_p.R1076G	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1131					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AATTCTATTCTTTTCAGTCTC	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						58	65					0	0	1	0	0	C	76937357	T	C	76937357	3	2	141	1	0	0	0	0	1	0	0	0	1208	1617	56	4	4195	4	ATRX	23	76937357	Missense_Mutation	SNP	T	TCGA-FG-7638-01B-11D-2086-08	29832563	76937357	78333203	24	6437											
ARMCX2	9823	broad.mit.edu	37	chrX	100912542	100912542	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctatcactatccccgcCgctacacagccagcatcccg	8	6	6	21	3	1	0	1	0	0	0	3	0	3	0	7	0	3	2	7	0	3	3			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chrX:100912542C>T	uc010nnt.2	-	4	842	c.33G>A	c.(31-33)gcG>gcA	p.A11A	ARMCX2_uc004eid.2_Silent_p.A11A|ARMCX2_uc004eie.3_Silent_p.A11A|ARMCX2_uc004eif.3_Silent_p.A11A|ARMCX2_uc004eig.3_Silent_p.A11A|ARMCX2_uc022caq.1_Silent_p.A11A	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	Homo sapiens armadillo repeat containing, X-linked 2 (ARMCX2), mRNA.	11						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CTATCCCCGCCGCTACACAGC	0.567													63	100					0	0	1	0	0	T	100912542	C	T	100912542	2	4	141	1	0	0	0	0	0	0	0	1	960	639	23	2		2	ARMCX2	23	100912542	Silent	SNP	C	TCGA-FG-7638-01B-11D-2086-08	23975185	100912542	54358018	25	6438											
REV1	51455	broad.mit.edu	37	chr2	100079071	100079071	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatttctggaccttggcaGccatatacccaccctagaat	11	10	6	14	0	1	1	0	0	1	1	1	2	1	2	5	2	2	1	5	2	5	5			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr2:100079071G>A	uc002tad.3	-	2	280	c.68C>T	c.(67-69)gCt>gTt	p.A23V	REV1_uc002tac.3_Missense_Mutation_p.A23V|REV1_uc002tae.1_Missense_Mutation_p.A2V	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.	23					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GACCTTGGCAGCCATATACCC	0.358								Direct reversal of damage					8	194					0	0	1	0	0	A	100079071	G	A	100079071	3	1	142	1	0	0	0	0	1	0	0	0	13239	971	34	3	3771	3	REV1	2	100079071	Missense_Mutation	SNP	G	TCGA-FG-7641-01B-11D-2253-08		100079071	143120302	1	6439											
TNFAIP6	7130	broad.mit.edu	37	chr2	152226605	152226605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggcttcccaaatgagtacGaagataaccaaatctgctac	15	8	7	11	1	1	2	0	1	1	1	2	3	2	2	2	1	4	3	2	1	6	4			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr2:152226605G>A	uc002txk.3	+	3	541	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	FW340097_uc021vqy.1_Intron|MIR4773-2_uc021vra.1_5'Flank	NM_007115	NP_009046	P98066	TSG6_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 6 (TNFAIP6), mRNA.	156	CUB.				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding	p.Y155Y(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		AAATGAGTACGAAGATAACCA	0.388													10	126					0	0	1	0	0	A	152226605	G	A	152226605	3	1	142	1	0	0	0	0	1	0	0	0	16272	1059	37	2	480	2	TNFAIP6	2	152226605	Missense_Mutation	SNP	G	TCGA-FG-7641-01B-11D-2253-08	52147534	152226605	90972768	2	6440											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								32	86					0	0	1	0	0	T	209113112	C	T	209113112	3	4	142	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08	56886507	209113112	34086261	3	6441											
EPHA4	2043	broad.mit.edu	37	chr2	222321395	222321395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccagctgctgtcctggctCgcacgtggaaaacataggaa	11	7	12	11	2	0	0	0	0	0	0	2	2	1	2	2	3	4	4	2	3	4	1			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr2:222321395C>T	uc002vmq.3	-	6	1583	c.1541G>A	c.(1540-1542)cGa>cAa	p.R514Q	EPHA4_uc002vmr.2_Missense_Mutation_p.R514Q|EPHA4_uc010zlm.1_Missense_Mutation_p.R455Q	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	514	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TGTCCTGGCTCGCACGTGGAA	0.512													13	92					0	0	1	0	0	T	222321395	C	T	222321395	3	4	142	1	0	0	0	0	1	0	0	0	5169	884	31	2	1463	2	EPHA4	2	222321395	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08	13208283	222321395	20877978	4	6442											
HYAL3	8372	broad.mit.edu	37	chr3	50332974	50332974	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggacctgtggtaggggctgGccacaacccaggcacagggc	8	4	17	12	0	0	0	0	0	0	0	0	1	0	1	3	7	1	3	3	7	2	1			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr3:50332974G>A	uc021wyn.1	-	1	146	c.60C>T	c.(58-60)ggC>ggT	p.G20G	HYAL3_uc003cze.2_Intron|HYAL3_uc003czf.2_Intron|HYAL3_uc003czd.2_Silent_p.G20G|HYAL3_uc003czg.2_Silent_p.G20G	NM_001200029	NP_001186958	O43820	HYAL3_HUMAN	Homo sapiens hyaluronoglucosaminidase 3 (HYAL3), transcript variant 5, mRNA.	20					carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity	p.C19Y(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GTAGGGGCTGGCCACAACCCA	0.627													3	33					0	0	1	0	0	A	50332974	G	A	50332974	2	1	142	1	0	0	0	0	0	0	0	1	7465	1190	42	3		3	HYAL3	3	50332974	Silent	SNP	G	TCGA-FG-7641-01B-11D-2253-08		50332974	147689456	5	6443											
ALDH1L1	10840	broad.mit.edu	37	chr3	125831636	125831636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacttaccactctccgcaCgaactcatcatgaatggagt	12	9	8	12	2	3	1	2	1	1	0	4	4	3	3	2	2	2	1	2	2	3	1			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr3:125831636C>T	uc003eim.1	-	18	2360	c.2170G>A	c.(2170-2172)Gtg>Atg	p.V724M	ALDH1L1_uc010hse.1_Non-coding_Transcript|ALDH1L1_uc011bki.1_Missense_Mutation_p.V623M|ALDH1L1_uc003ein.1_Missense_Mutation_p.V259M	NM_012190	NP_036322	O75891	AL1L1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L1 (ALDH1L1), mRNA.	724	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	ACTCTCCGCACGAACTCATCA	0.577													9	126					0	0	1	0	0	T	125831636	C	T	125831636	3	4	142	1	0	0	0	0	1	0	0	0	494	536	19	1	558	1	ALDH1L1	3	125831636	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08	75498662	125831636	72190794	6	6444											
SRPRB	58477	broad.mit.edu	37	chr3	133524790	133524790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcaggagctgcagcagaCggacccaacgctgttgtcag	9	5	15	12	3	1	1	1	0	0	1	1	3	1	3	1	3	4	6	1	3	1	1			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr3:133524790C>T	uc003epx.2	+	1	383	c.98C>T	c.(97-99)aCg>aTg	p.T33M		NM_021203	NP_067026	Q9Y5M8	SRPRB_HUMAN	Homo sapiens signal recognition particle receptor, B subunit (SRPRB), mRNA.	33						endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity			breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						CTGCAGCAGACGGACCCAACG	0.672													5	103					0	0	1	0	0	T	133524790	C	T	133524790	3	4	142	1	0	0	0	0	1	0	0	0	15162	536	19	1	100	1	SRPRB	3	133524790	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08	7693154	133524790	64497640	7	6445											
HTRA3	94031	broad.mit.edu	37	chr4	8293208	8293208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacagtgacaacgggcatcGtcagcactgcccagcgggag	11	4	13	13	3	1	1	1	1	0	0	2	2	1	2	1	2	4	2	1	2	1	0			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr4:8293208G>A	uc003gla.3	+	3	1027	c.820G>A	c.(820-822)Gtc>Atc	p.V274I	HTRA3_uc003gkz.3_Missense_Mutation_p.V274I	NM_053044	NP_444272	P83110	HTRA3_HUMAN	Homo sapiens HtrA serine peptidase 3 (HTRA3), mRNA.	274	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						AACGGGCATCGTCAGCACTGC	0.632													24	44					0	0	1	0	0	A	8293208	G	A	8293208	3	1	142	1	0	0	0	0	1	0	0	0	7455	1145	40	1	834	1	HTRA3	4	8293208	Missense_Mutation	SNP	G	TCGA-FG-7641-01B-11D-2253-08		8293208	182861068	8	6446											
FRAS1	80144	broad.mit.edu	37	chr4	79421075	79421075	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtcttgaagttcagtcccGgtaattgaatgccaacctca	11	11	9	10	1	3	2	2	2	1	0	4	3	4	2	3	1	2	2	3	1	4	4			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr4:79421075G>A	uc003hlb.2	+	61	9756	c.9316_splice	c.e61+1	p.G3106_splice	FRAS1_uc003hlc.1_Splice_Site_p.G108_splice	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3101	Calx-beta 5.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTTCAGTCCCGGTAATTGAAT	0.443													18	177					0	0	1	0	0	A	79421075	G	A	79421075	5	1	142	1	0	0	0	0	0	0	1	0	6042	1130	39	2	9633	2	FRAS1	4	79421075	Splice_Site	SNP	G	TCGA-FG-7641-01B-11D-2253-08	71127867	79421075	111733201	9	6447											
DNAH5	1767	broad.mit.edu	37	chr5	13766101	13766101	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacctgtaagttctgtaaaAagttccctgcagtcatcaat	13	12	6	10	0	3	0	2	0	1	0	4	0	4	0	2	0	2	5	2	0	6	4			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr5:13766101A>G	uc003jfd.2	-	58	10127	c.10085T>C	c.(10084-10086)tTt>tCt	p.F3362S	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3362	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTTCTGTAAAAAGTTCCCTGC	0.413									Kartagener syndrome				65	97					0	0	1	0	0	G	13766101	A	G	13766101	3	3	142	1	0	0	0	0	1	0	0	0	4604	14	1	3	3873	3	DNAH5	5	13766101	Missense_Mutation	SNP	A	TCGA-FG-7641-01B-11D-2253-08		13766101	167149159	10	6448											
VCAN	1462	broad.mit.edu	37	chr5	82849281	82849281	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcagctgaacgggaatgcCgtctgcagggtgcccatctc	8	8	13	12	2	2	1	0	1	2	0	3	2	2	2	2	2	6	3	2	2	2	0			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr5:82849281C>T	uc003kii.3	+	10	9948	c.9592C>T	c.(9592-9594)Cgt>Tgt	p.R3198C	VCAN_uc003kij.3_Missense_Mutation_p.R2211C|VCAN_uc010jau.2_Missense_Mutation_p.R1444C|VCAN_uc003kik.3_Missense_Mutation_p.R457C|VCAN_uc003kil.3_Missense_Mutation_p.R1862C	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	3198	C-type lectin.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.C3197C(2)|p.R3198S(2)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACGGGAATGCCGTCTGCAGGG	0.473													62	156					0	0	1	0	0	T	82849281	C	T	82849281	3	4	142	1	0	0	0	0	1	0	0	0	17135	652	23	2	9630	2	VCAN	5	82849281	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08	69083180	82849281	98065979	11	6449											
C5orf20	140947	broad.mit.edu	37	chr5	134782790	134782790	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtatgtgggttgctgctccGtaatgcatagttgggggacc	6	13	15	7	1	0	0	0	0	0	0	1	1	1	1	2	3	3	7	2	3	3	5	rs113239442		TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr5:134782790G>A	uc003lav.3	-	0	249	c.9C>T	c.(7-9)taC>taT	p.Y3Y		NM_130848	NP_570900	Q8TF63	DCNP1_HUMAN	Homo sapiens chromosome 5 open reading frame 20 (C5orf20), mRNA.	3						nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTGCTGCTCCGTAATGCATAG	0.527													5	46					0	0	1	0	0	A	134782790	G	A	134782790	2	1	142	1	0	0	0	0	0	0	0	1	2284	1140	40	1		1	C5orf20	5	134782790	Silent	SNP	G	TCGA-FG-7641-01B-11D-2253-08	51933509	134782790	46132470	12	6450											
PCDHB5	26167	broad.mit.edu	37	chr5	140516689	140516689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacgccaacgacaactcgcCcttcgtgctgtatccgctgc	7	8	10	16	5	0	0	0	0	0	0	3	2	1	1	3	1	4	3	3	1	3	2			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr5:140516689C>T	uc003liq.3	+	0	1890	c.1673C>T	c.(1672-1674)cCc>cTc	p.P558L		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	558	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACAACTCGCCCTTCGTGCTG	0.716													8	34					0	0	1	0	0	T	140516689	C	T	140516689	3	4	142	1	0	0	0	0	1	0	0	0	11545	623	22	3	1675	3	PCDHB5	5	140516689	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08	5733899	140516689	40398571	13	6451											
MAS1L	116511	broad.mit.edu	37	chr6	29454624	29454624	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtggttgctccattgggtcGatgccagctgcctttttgtt	3	17	12	9	1	0	0	0	0	0	0	2	1	1	0	3	2	4	4	3	2	0	5	rs148359929	byFrequency	TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr6:29454624G>A	uc011dlq.2	-	0	1056	c.1056C>T	c.(1054-1056)atC>atT	p.I352I		NM_052967	NP_443199	P35410	MAS1L_HUMAN	Homo sapiens MAS1 oncogene-like (MAS1L), mRNA.	352						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CCATTGGGTCGATGCCAGCTG	0.517													87	121					0	0	1	0	0	A	29454624	G	A	29454624	2	1	142	1	0	0	0	0	0	0	0	1	9321	1048	37	2		2	MAS1L	6	29454624	Silent	SNP	G	TCGA-FG-7641-01B-11D-2253-08		29454624	141660443	14	6452											
RHAG	6005	broad.mit.edu	37	chr6	49583402	49583402	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcccctttctcagtccaGatcgatacaagatgcctgct	9	11	7	14	1	1	2	1	0	1	2	4	3	2	2	4	0	4	1	4	0	2	2			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr6:49583402G>T	uc003ozk.4	-	3	637	c.575C>A	c.(574-576)tCt>tAt	p.S192Y	RHAG_uc010jzl.3_Missense_Mutation_p.S192Y|RHAG_uc010jzm.3_Missense_Mutation_p.S192Y	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Homo sapiens Rh-associated glycoprotein (RHAG), mRNA.	192					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TCTCAGTCCAGATCGATACAA	0.453													48	79					2.74695e-27	2.85907e-27	1	1	0	T	49583402	G	T	49583402	3	4	142	1	0	0	0	0	1	0	0	0	13315	942	33	5	682	5	RHAG	6	49583402	Missense_Mutation	SNP	G	TCGA-FG-7641-01B-11D-2253-08	20128778	49583402	121531665	15	6453											
GSTA3	2940	broad.mit.edu	37	chr6	52767170	52767170	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctcctttatgtctttcccGtagaggttgtatttgctggc	4	18	9	10	1	2	1	0	0	2	1	4	1	3	1	2	2	1	4	2	2	3	7	rs147033582		TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr6:52767170G>A	uc003pbb.3	-	3	325	c.246C>T	c.(244-246)taC>taT	p.Y82Y	GSTA3_uc010jzq.3_Silent_p.Y26Y	NM_000847	NP_000838	Q16772	GSTA3_HUMAN	Homo sapiens glutathione S-transferase alpha 3 (GSTA3), mRNA.	82	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	TGTCTTTCCCGTAGAGGTTGT	0.448													11	322					0	0	1	0	0	A	52767170	G	A	52767170	2	1	142	1	0	0	0	0	0	0	0	1	6832	1140	40	1		1	GSTA3	6	52767170	Silent	SNP	G	TCGA-FG-7641-01B-11D-2253-08	3183768	52767170	118347897	16	6454											
TTK	7272	broad.mit.edu	37	chr6	80749925	80749925	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttaatagtgttgtttaaaaAgggacccaaaacagaggata	17	11	9	4	0	0	1	0	0	0	1	0	3	0	3	1	2	1	2	1	2	8	7			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr6:80749925A>G	uc003pjc.3	+	19	2431	c.2320A>G	c.(2320-2322)Agg>Ggg	p.R774G	TTK_uc003pjb.4_Missense_Mutation_p.R773G	NM_003318	NP_003309	P33981	TTK_HUMAN	Homo sapiens TTK protein kinase (TTK), transcript variant 1, mRNA.	774	Protein kinase.				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TTGTTTAAAAAGGGACCCAAA	0.284													3	78					0	0	1	0	0	G	80749925	A	G	80749925	3	3	142	1	0	0	0	0	1	0	0	0	16717	63	3	4	2394	4	TTK	6	80749925	Missense_Mutation	SNP	A	TCGA-FG-7641-01B-11D-2253-08	27982755	80749925	90365142	17	6455											
IL20RA	53832	broad.mit.edu	37	chr6	137322781	137322781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcctggtggcctgtctggagCcggctcctcatagagtctag	5	11	13	12	1	3	1	1	0	2	1	5	2	5	2	4	4	1	1	4	4	2	2			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr6:137322781C>T	uc003qhj.3	-	6	2009	c.1576G>A	c.(1576-1578)Gct>Act	p.A526T	IL20RA_uc011edl.2_Missense_Mutation_p.A477T|IL20RA_uc003qhk.3_Missense_Mutation_p.A415T|IL20RA_uc003qhi.3_Missense_Mutation_p.A258T	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	Homo sapiens interleukin 20 receptor, alpha (IL20RA), mRNA.	526						integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CTGTCTGGAGCCGGCTCCTCA	0.527													5	193					0	0	1	0	0	T	137322781	C	T	137322781	3	4	142	1	0	0	0	0	1	0	0	0	7668	739	26	3	89	3	IL20RA	6	137322781	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08	56572856	137322781	33792286	18	6456											
PARP12	64761	broad.mit.edu	37	chr7	139734111	139734111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttttagttgtgccatagaCcaggtttttctgaacgaagg	9	15	10	7	1	1	2	0	1	1	1	1	3	1	2	2	2	2	2	2	2	4	7			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr7:139734111C>T	uc003vvl.1	-	7	2219	c.1345G>A	c.(1345-1347)Gtc>Atc	p.V449I	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	449	WWE 2.			VQKNLVY -> MGGFGQH (in Ref. 4).		nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					GTGCCATAGACCAGGTTTTTC	0.418													12	27					0	0	1	0	0	T	139734111	C	T	139734111	3	4	142	1	0	0	0	0	1	0	0	0	11457	507	18	3	780	3	PARP12	7	139734111	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08		139734111	19404552	19	6457											
MCPH1	79648	broad.mit.edu	37	chr8	6479212	6479212	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgagaaatgggtcttaGgtaagaatccaggcacacag	13	9	12	7	0	2	2	0	1	2	2	3	3	3	2	1	3	0	2	1	3	4	2			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr8:6479212G>A	uc003wqi.3	+	13	2528	c.2452_splice	c.e13+1	p.D818_splice		NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	Homo sapiens microcephalin 1 (MCPH1), transcript variant 1, mRNA.	818	BRCT 3.					microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		ATGGGTCTTAGGTAAGAATCC	0.597													11	122					0	0	1	0	0	A	6479212	G	A	6479212	5	1	142	1	0	0	0	0	0	0	1	0	9398	1014	35	3	2510	3	MCPH1	8	6479212	Splice_Site	SNP	G	TCGA-FG-7641-01B-11D-2253-08		6479212	139884810	20	6458											
KCNB2	9312	broad.mit.edu	37	chr8	73480147	73480147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacaggctgcccaggacgCgcctggggaagcttcgagac	8	5	16	12	3	0	1	0	0	0	1	1	5	0	4	2	5	2	2	2	5	1	1			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr8:73480147C>T	uc003xzb.3	+	1	766	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	60					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GCCCAGGACGCGCCTGGGGAA	0.542													12	109					0	0	1	0	0	T	73480147	C	T	73480147	3	4	142	1	0	0	0	0	1	0	0	0	8013	768	27	1	180	1	KCNB2	8	73480147	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08	67000935	73480147	72883875	21	6459											
PTER	9317	broad.mit.edu	37	chr10	16526578	16526578	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggattcagaaaaacgcctaTtcccataaagaaaaccttca	17	9	5	10	1	2	2	2	0	0	2	3	3	3	3	3	1	2	0	3	1	7	5			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr10:16526578T>C	uc001iog.1	+	2	402	c.195T>C	c.(193-195)taT>taC	p.Y65Y	PTER_uc001ioh.1_Silent_p.Y65Y|PTER_uc001ioi.1_Silent_p.Y65Y|PTER_uc009xjp.1_Silent_p.Y65Y	NM_030664	NP_109589	Q96BW5	PTER_HUMAN	Homo sapiens phosphotriesterase related (PTER), transcript variant 2, mRNA.	65					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						AAAACGCCTATTCCCATAAAG	0.403													4	83					0	0	1	0	0	C	16526578	T	C	16526578	2	2	142	1	0	0	0	0	0	0	0	1	12739	1500	52	3		3	PTER	10	16526578	Silent	SNP	T	TCGA-FG-7641-01B-11D-2253-08		16526578	119008169	22	6460											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100502164	100502164	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacagatatcaaagtctcacCctaatggacgctttattaca	14	11	5	11	1	2	1	2	0	1	1	3	2	2	2	1	1	1	1	1	1	5	5			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr12:100502164C>T	uc001tgq.3	-	2	436	c.207_splice	c.e2+1	p.R69_splice	UHRF1BP1L_uc001tgr.3_Splice_Site_p.R69_splice	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	69										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						AAAGTCTCACCCTAATGGACG	0.338													26	60					0	0	1	0	0	T	100502164	C	T	100502164	5	4	142	1	0	0	0	0	0	0	1	0	16966	637	22	3	4291	3	UHRF1BP1L	12	100502164	Splice_Site	SNP	C	TCGA-FG-7641-01B-11D-2253-08		100502164	33349731	23	6461											
PTPN11	5781	broad.mit.edu	37	chr12	112888139	112888139	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tagaagaaatggagctgtcaCccacatcaagattcagaaca	17	7	8	9	0	3	4	3	0	0	4	3	5	3	5	1	1	2	1	1	1	5	2			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr12:112888139C>G	uc001ttx.3	+	2	535	c.155C>G	c.(154-156)aCc>aGc	p.T52S	PTPN11_uc001ttw.1_Missense_Mutation_p.T52S	NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	52	SH2 1.				T cell costimulation|axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.T52S(4)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GGAGCTGTCACCCACATCAAG	0.433			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome				50	80					0	0	1	0	0	G	112888139	C	G	112888139	3	3	142	1	0	0	0	0	1	0	0	0	12780	507	18	5	165	5	PTPN11	12	112888139	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08	12385975	112888139	20963756	24	6462											
SCARB1	949	broad.mit.edu	37	chr12	125263027	125263028	+	Frame_Shift_Ins	INS	-	-	G																															gaggctcaggctgtggggctINSggggggctgtccgctgggag																										TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr12:125263027_125263028insG	uc001ugn.4	-	11	1759_1760	c.1506_1507insC	c.(1504-1509)cccagcfs	p.P502fs	SCARB1_uc001ugm.4_3'UTR|SCARB1_uc010tbd.2_3'UTR|SCARB1_uc001ugo.4_3'UTR	NM_001082959	NP_001076428	Q8WTV0	SCRB1_HUMAN	Homo sapiens scavenger receptor class B, member 1 (SCARB1), transcript variant 2, mRNA.	0					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	GCTGTGGGGCTGGGGGGCTGTC	0.683													2	4	---	---	---	---						G	125263028	-	G	125263027	7	5	142	1	0	1	1	0	0	0	0	0	13881	1580	55	0	17	0	SCARB1	12	125263027	Frame_Shift_Ins	INS	-	TCGA-FG-7641-01B-11D-2253-08	12374888	125263027	8588868	25	6463											
RBM26	64062	broad.mit.edu	37	chr13	79945160	79945160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctctctttactccaacttCgacttcgactcctgctataa	8	14	4	15	2	1	0	0	0	1	0	6	2	3	0	3	0	3	1	3	0	4	6			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr13:79945160C>T	uc001vkz.2	-	4	568	c.554G>A	c.(553-555)cGa>cAa	p.R185Q	RBM26_uc001vky.2_Missense_Mutation_p.R185Q|RBM26_uc001vla.2_Missense_Mutation_p.R185Q|RBM26_uc001vkx.2_5'Flank|RBM26_uc001vlb.1_Non-coding_Transcript	NM_022118	NP_071401	Q5T8P6	RBM26_HUMAN	Homo sapiens RNA binding motif protein 26 (RBM26), mRNA.	185	Arg-rich.				mRNA processing		RNA binding|nucleotide binding|protein binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		ACTCCAACTTCGACTTCGACT	0.453													9	142					0	0	1	0	0	T	79945160	C	T	79945160	3	4	142	1	0	0	0	0	1	0	0	0	13126	884	31	2	2456	2	RBM26	13	79945160	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08		79945160	35224718	26	6464											
C15orf52	388115	broad.mit.edu	37	chr15	40631782	40631782	+	Frame_Shift_Del	DEL	C	C	-																															gctggtgtggtcacagccatCcccccctgctctgcctgccg																										TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr15:40631782delC	uc001zlh.4	-	2	310	c.294delG	c.(292-294)gggfs	p.G98fs	C15orf52_uc001zli.1_5'UTR|C15orf52_uc010ucn.2_5'Flank	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	Homo sapiens chromosome 15 open reading frame 52 (C15orf52), mRNA.	98								p.M99fs*3(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		TCACAGCCATCCCCCCCTGCT	0.647													10	267	---	---	---	---						-	40631782	C	-	40631782	7	5	142	1	0	1	0	1	0	0	0	0	1800	842	30	0	1346	0	C15orf52	15	40631782	Frame_Shift_Del	DEL	C	TCGA-FG-7641-01B-11D-2253-08		40631782	61899610	27	6465											
GRIN2A	2903	broad.mit.edu	37	chr16	9934822	9934822	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattccattccacacattgtTaactttcttgccatgcttcc	8	16	3	14	0	1	0	0	0	1	0	4	0	4	0	4	0	3	2	4	0	1	7			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr16:9934822T>A	uc010uym.2	-	6	1778	c.1468A>T	c.(1468-1470)Aac>Tac	p.N490Y	GRIN2A_uc002czo.4_Missense_Mutation_p.N490Y|GRIN2A_uc010uyn.2_Missense_Mutation_p.N333Y|GRIN2A_uc002czr.4_Missense_Mutation_p.N490Y	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	490					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CACACATTGTTAACTTTCTTG	0.443													8	144					0	0	1	0	0	A	9934822	T	A	9934822	3	1	142	1	0	0	0	0	1	0	0	0	6779	1754	61	5	2958	5	GRIN2A	16	9934822	Missense_Mutation	SNP	T	TCGA-FG-7641-01B-11D-2253-08		9934822	80419931	28	6466											
CCDC113	29070	broad.mit.edu	37	chr16	58296338	58296338	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttgattttcagcagttgaAgatagagaacgctcaatttc	12	14	9	6	1	2	4	2	2	0	2	3	5	2	4	0	0	2	4	0	0	4	6			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr16:58296338A>G	uc002ene.3	+	5	756	c.677A>G	c.(676-678)aAg>aGg	p.K226R	CCDC113_uc010vid.2_Missense_Mutation_p.K172R	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN	Homo sapiens coiled-coil domain containing 113 (CCDC113), transcript variant 1, mRNA.	226						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						CAGCAGTTGAAGATAGAGAAC	0.428													49	68					0	0	1	0	0	G	58296338	A	G	58296338	3	3	142	1	0	0	0	0	1	0	0	0	2750	72	3	4	699	4	CCDC113	16	58296338	Missense_Mutation	SNP	A	TCGA-FG-7641-01B-11D-2253-08	48361516	58296338	32058415	29	6467											
NUP88	4927	broad.mit.edu	37	chr17	5312118	5312118	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tataagatgtacagtgggtaTgccactacttcatctttgcc	10	14	8	9	0	2	1	1	0	1	1	2	1	2	1	2	1	4	2	2	1	5	7			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr17:5312118T>A	uc010vsx.2	-	4	881	c.792A>T	c.(790-792)gcA>gcT	p.A264A	NUP88_uc002gbo.2_Silent_p.A264A|NUP88_uc010cle.2_Silent_p.A263A|NUP88_uc010vsy.2_Silent_p.A264A	NM_002532	NP_002523	Q99567	NUP88_HUMAN	Homo sapiens nucleoporin 88kDa (NUP88), mRNA.	264					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						ACAGTGGGTATGCCACTACTT	0.448													26	82					0	0	1	0	0	A	5312118	T	A	5312118	2	1	142	1	0	0	0	0	0	0	0	1	10771	1451	51	5		5	NUP88	17	5312118	Silent	SNP	T	TCGA-FG-7641-01B-11D-2253-08		5312118	75883092	30	6468											
DNAH9	1770	broad.mit.edu	37	chr17	11671916	11671916	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccaagctcgtcccccagttCgaatttgaccccgagatgcc	8	9	8	16	3	0	2	0	1	0	1	4	4	2	2	6	0	2	2	6	0	2	2			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr17:11671916C>T	uc002gne.3	+	36	7385	c.7317C>T	c.(7315-7317)ttC>ttT	p.F2439F	DNAH9_uc010coo.3_Silent_p.F1733F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2439					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCCCCCAGTTCGAATTTGACC	0.542													5	117					0	0	1	0	0	T	11671916	C	T	11671916	2	4	142	1	0	0	0	0	0	0	0	1	4608	883	31	2		2	DNAH9	17	11671916	Silent	SNP	C	TCGA-FG-7641-01B-11D-2253-08	6359798	11671916	69523294	31	6469											
TEX14	56155	broad.mit.edu	37	chr17	56690826	56690826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgccgatagtgatgcgctCgtacacaaggcgggttttct	7	12	13	9	4	1	1	0	1	1	0	2	2	1	1	1	2	3	3	1	2	3	4			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr17:56690826C>T	uc010dcz.2	-	8	1097	c.979G>A	c.(979-981)Gag>Aag	p.E327K	TEX14_uc002iwr.2_Missense_Mutation_p.E321K|TEX14_uc002iws.2_Missense_Mutation_p.E321K|TEX14_uc010dda.2_Missense_Mutation_p.E101K	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	327	Protein kinase.					cytoplasm	ATP binding|protein kinase activity	p.E321K(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTGATGCGCTCGTACACAAGG	0.502													8	148					0	0	1	0	0	T	56690826	C	T	56690826	3	4	142	1	0	0	0	0	1	0	0	0	15775	893	31	2	3614	2	TEX14	17	56690826	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08	45018910	56690826	24504384	32	6470											
TMC6	11322	broad.mit.edu	37	chr17	76109646	76109646	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacctgctcctctcctccctCtccttcctctcgtagatgga	4	13	5	19	1	3	1	0	0	3	1	9	2	6	2	6	1	1	2	6	1	1	2			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr17:76109646C>T	uc002juj.1	-	17	2463	c.2337G>A	c.(2335-2337)gaG>gaA	p.E779E	LOC100131096_uc002juh.3_5'Flank|TMC6_uc002jui.1_Silent_p.E358E|TMC6_uc010dhf.1_Silent_p.E612E|TMC6_uc002juk.2_Silent_p.E779E|TMC6_uc010dhg.1_Silent_p.E428E|TMC6_uc002jul.1_Silent_p.E779E	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	Homo sapiens transmembrane channel-like 6 (TMC6), transcript variant 2, mRNA.	779						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TCTCCTCCCTCTCCTTCCTCT	0.567													19	104					0	0	1	0	0	T	76109646	C	T	76109646	2	4	142	1	0	0	0	0	0	0	0	1	15986	912	32	3		3	TMC6	17	76109646	Silent	SNP	C	TCGA-FG-7641-01B-11D-2253-08	19418820	76109646	5085564	33	6471											
QTRT1	81890	broad.mit.edu	37	chr19	10823935	10823935	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggcctctgtgggaatcAcactgggctgacctggcatt	6	11	12	12	0	3	1	1	1	2	0	3	2	3	2	2	4	0	2	2	4	1	1			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr19:10823935A>T	uc002mpr.3	+	9	1226	c.1201A>T	c.(1201-1203)Aca>Tca	p.T401S	DNM2_uc010dxk.2_Intron	NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	Homo sapiens queuine tRNA-ribosyltransferase 1 (QTRT1), mRNA.	401					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			TGTGGGAATCACACTGGGCTG	0.577													34	62					0	0	1	0	0	T	10823935	A	T	10823935	3	4	142	1	0	0	0	0	1	0	0	0	12885	159	6	5	1239	5	QTRT1	19	10823935	Missense_Mutation	SNP	A	TCGA-FG-7641-01B-11D-2253-08		10823935	48305048	34	6472											
CIC	23152	broad.mit.edu	37	chr19	42791728	42791728	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacatccggcggcccatgaAtgccttcatgatcttcagca	9	9	8	15	2	3	2	2	2	1	0	4	2	4	2	4	2	2	1	4	2	1	2			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr19:42791728A>G	uc002otf.1	+	4	654	c.614A>G	c.(613-615)aAt>aGt	p.N205S		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CGGCCCATGAATGCCTTCATG	0.627			"Mis, F, S"		oligodendroglioma								12	78					0	0	1	0	0	G	42791728	A	G	42791728	3	3	142	1	0	0	0	0	1	0	0	0	3424	101	4	3	632	3	CIC	19	42791728	Missense_Mutation	SNP	A	TCGA-FG-7641-01B-11D-2253-08	31967793	42791728	16337255	35	6473			1	14		3	3	7121	N	G_C_A	4.205481e-05
CIC	23152	broad.mit.edu	37	chr19	42791796	42791796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatcccaaccaggacaacCggaccgtcagcaagatcctg	12	5	9	15	2	2	1	2	0	0	1	4	3	4	3	5	2	3	1	5	2	3	0			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr19:42791796C>T	uc002otf.1	+	4	722	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCAGGACAACCGGACCGTCAG	0.622			"Mis, F, S"		oligodendroglioma								13	71					0	0	1	0	0	T	42791796	C	T	42791796	3	4	142	1	0	0	0	0	1	0	0	0	3424	643	23	2	700	2	CIC	19	42791796	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08	68	42791796	16337187	36	6474			1	14		3	3	7121	N	G_C_A	4.205481e-05
CIC	23152	broad.mit.edu	37	chr19	42798848	42798848	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggaccagcgccgggccctgGtcatgcagctctttcaggac	6	8	13	14	2	3	0	2	0	1	0	3	2	3	2	3	4	3	2	3	4	0	1			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr19:42798848G>C	uc002otf.1	+	18	4460	c.4420G>C	c.(4420-4422)Gtc>Ctc	p.V1474L		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.V1474F(2)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCGGGCCCTGGTCATGCAGCT	0.602			"Mis, F, S"		oligodendroglioma								5	61					0	0	1	0	0	C	42798848	G	C	42798848	3	2	142	1	0	0	0	0	1	0	0	0	3424	1261	44	5	4494	5	CIC	19	42798848	Missense_Mutation	SNP	G	TCGA-FG-7641-01B-11D-2253-08	7052	42798848	16330135	37	6475			1	14		3	3	7121	N	G_C_A	4.205481e-05
PVR	5817	broad.mit.edu	37	chr19	45162043	45162043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagcactcaggcatatcccGtaacgccatcatcttcctgg	9	10	8	14	2	3	1	2	1	1	0	5	1	5	1	3	2	2	3	3	2	2	3			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr19:45162043G>A	uc002ozm.3	+	5	1324	c.1025G>A	c.(1024-1026)cGt>cAt	p.R342H	PVR_uc010ejs.3_Missense_Mutation_p.R342H|PVR_uc010xxb.2_Intron|PVR_uc010xxc.2_Intron|PVR_uc002ozn.3_Missense_Mutation_p.R287H	NM_006505	NP_006496	P15151	PVR_HUMAN	Homo sapiens poliovirus receptor (PVR), transcript variant 1, mRNA.	342					adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to T cell mediated cytotoxicity|susceptibility to natural killer cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		GGCATATCCCGTAACGCCATC	0.468													3	81					0	0	1	0	0	A	45162043	G	A	45162043	3	1	142	1	0	0	0	0	1	0	0	0	12837	1145	40	1	1047	1	PVR	19	45162043	Missense_Mutation	SNP	G	TCGA-FG-7641-01B-11D-2253-08	2363195	45162043	13966940	38	6476											
ZBTB45	84878	broad.mit.edu	37	chr19	59028924	59028924	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgcagcgaagcttcacgAatgcgcacagtcacgtcaca	12	5	10	14	5	3	0	3	0	0	0	3	2	3	0	0	0	3	4	0	0	2	1			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr19:59028924A>C	uc002qtd.3	-	1	409	c.117T>G	c.(115-117)atT>atG	p.I39M	ZBTB45_uc002qtf.3_Missense_Mutation_p.I39M	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	Homo sapiens zinc finger and BTB domain containing 45 (ZBTB45), mRNA.	39	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		AAGCTTCACGAATGCGCACAG	0.602											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	43					0	0	1	0	0	C	59028924	A	C	59028924	3	2	142	1	0	0	0	0	1	0	0	0	17543	242	9	5	1426	5	ZBTB45	19	59028924	Missense_Mutation	SNP	A	TCGA-FG-7641-01B-11D-2253-08	13866881	59028924	100059	39	6477											
CRYBB2	1415	broad.mit.edu	37	chr22	25625545	25625545	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcgggtgcagagtggcaCgtaagtgcgttgccagccct	6	9	16	10	3	0	1	0	0	0	1	0	1	0	1	2	2	5	4	2	2	1	2	rs4049504		TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr22:25625545C>T	uc003abp.1	+	5	497	c.449_splice	c.e5+1	p.T150_splice		NM_000496	NP_000487	P43320	CRBB2_HUMAN	Homo sapiens crystallin, beta B2 (CRYBB2), mRNA.	150	Beta/gamma crystallin 'Greek key' 4.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						CAGAGTGGCACGTAAGTGCGT	0.572													10	42					0	0	1	0	0	T	25625545	C	T	25625545	5	4	142	1	0	0	0	0	0	0	1	0	3911	550	19	1	463	1	CRYBB2	22	25625545	Splice_Site	SNP	C	TCGA-FG-7641-01B-11D-2253-08		25625545	25679021	40	6478											
ACTL8	81569	broad.mit.edu	37	chr1	18152414	18152414	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagggccgccccttgccCgccagcggcaagacgctgga	7	3	13	18	4	0	1	0	0	0	1	0	2	0	2	6	3	2	2	6	3	1	1	rs114899155	byFrequency	TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:18152414C>T	uc001bat.3	+	2	717	c.501C>T	c.(499-501)ccC>ccT	p.P167P		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	Homo sapiens actin-like 8 (ACTL8), mRNA.	167						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GCCCCTTGCCCGCCAGCGGCA	0.607											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	40					0	0	1	0	0	T	18152414	C	T	18152414	2	4	143	1	0	0	0	0	0	0	0	1	202	639	23	2		2	ACTL8	1	18152414	Silent	SNP	C	TCGA-FG-7643-01A-11D-2086-08		18152414	231098207	1	6479											
EIF4G3	8672	broad.mit.edu	37	chr1	21268144	21268144	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggactctctggactgtgatGgcagcactcggagaactaac	11	8	12	10	1	1	2	0	1	1	1	3	5	1	4	0	4	3	2	0	4	2	1			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:21268144G>A	uc001bec.3	-	8	1591	c.1335C>T	c.(1333-1335)gcC>gcT	p.A445A	EIF4G3_uc010odi.2_Silent_p.A49A|EIF4G3_uc010odj.2_Silent_p.A444A|EIF4G3_uc009vpz.3_Intron|EIF4G3_uc001bef.3_Silent_p.A444A|EIF4G3_uc001bee.3_Silent_p.A451A|EIF4G3_uc001beg.3_Silent_p.A444A|EIF4G3_uc010odk.2_Silent_p.A445A|EIF4G3_uc001beh.3_Silent_p.A456A	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	445					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GGACTGTGATGGCAGCACTCG	0.488													11	201					0	0	1	0	0	A	21268144	G	A	21268144	2	1	143	1	0	0	0	0	0	0	0	1	5038	1335	47	3		3	EIF4G3	1	21268144	Silent	SNP	G	TCGA-FG-7643-01A-11D-2086-08	3115730	21268144	227982477	2	6480											
CDC20	991	broad.mit.edu	37	chr1	43826262	43826262	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaacagctatatcctgtcCaggtcagtggtttttgttgg	7	15	12	7	0	1	0	1	0	0	0	3	1	3	1	2	4	2	3	2	4	3	5			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:43826262C>A	uc001cix.3	+	6	947	c.846C>A	c.(844-846)tcC>tcA	p.S282S	CDC20_uc001ciy.3_Silent_p.S282S	NM_001255	NP_001246	Q12834	CDC20_HUMAN	Homo sapiens cell division cycle 20 homolog (S. cerevisiae) (CDC20), mRNA.	282					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATATCCTGTCCAGGTCAGTGG	0.512													6	108					2.7689e-08	2.98465e-08	1	1	0	A	43826262	C	A	43826262	2	1	143	1	0	0	0	0	0	0	0	1	3059	581	21	5		5	CDC20	1	43826262	Silent	SNP	C	TCGA-FG-7643-01A-11D-2086-08	22558118	43826262	205424359	3	6481											
PI4KB	5298	broad.mit.edu	37	chr1	151265427	151265428	+	Frame_Shift_Ins	INS	-	-	T																															gctccaccagcagctgcagcINStgctcctcagtcatgctcat																										TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:151265427_151265428insT	uc001exr.3	-	12	3026_3027	c.2387_2388insA	c.(2386-2388)cagfs	p.Q796fs	PI4KB_uc001exs.3_Frame_Shift_Ins_p.Q769fs|PI4KB_uc001exu.3_Frame_Shift_Ins_p.Q769fs|PI4KB_uc010pcw.2_Frame_Shift_Ins_p.Q452fs|PI4KB_uc001ext.3_Frame_Shift_Ins_p.Q784fs	NM_002651	NP_001185704	Q9UBF8	PI4KB_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, beta (PI4KB), transcript variant 1, mRNA.	784				S -> G (in Ref. 4; BAG57793).	phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	Golgi apparatus|endosome|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCAGCTGCAGCTGCTCCTCAGT	0.55													19	76	---	---	---	---						T	151265428	-	T	151265427	7	5	143	1	0	1	1	0	0	0	0	0	11874	796	28	0	102	0	PI4KB	1	151265427	Frame_Shift_Ins	INS	-	TCGA-FG-7643-01A-11D-2086-08	107439165	151265427	97985194	4	6482											
CCDC19	25790	broad.mit.edu	37	chr1	159842876	159842876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttctcgcgcacctggcgccGgagctcattggcatgctgta	5	10	13	13	4	2	0	1	0	1	0	3	1	2	1	2	3	2	6	2	3	1	3			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:159842876G>A	uc001fui.3	-	10	1453	c.1435C>T	c.(1435-1437)Cgg>Tgg	p.R479W	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Missense_Mutation_p.R394W|CCDC19_uc001fuj.3_Non-coding_Transcript	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	479						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			ACCTGGCGCCGGAGCTCATTG	0.612													18	68					0	0	1	0	0	A	159842876	G	A	159842876	3	1	143	1	0	0	0	0	1	0	0	0	2795	1115	39	2	228	2	CCDC19	1	159842876	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	8577449	159842876	89407745	5	6483											
HMCN1	83872	broad.mit.edu	37	chr1	185947027	185947027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaaccaacaatcaaatggcGaagattagacaacatgccaa	20	5	7	9	1	1	3	1	0	0	3	1	4	1	3	2	1	4	0	2	1	8	1			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:185947027G>A	uc001grq.1	+	15	2709	c.2480G>A	c.(2479-2481)cGa>cAa	p.R827Q	HMCN1_uc001grr.1_Missense_Mutation_p.R168Q	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	827	Ig-like C2-type 5.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATCAAATGGCGAAGATTAGAC	0.378													13	91					0	0	1	0	0	A	185947027	G	A	185947027	3	1	143	1	0	0	0	0	1	0	0	0	7220	1058	37	2	2542	2	HMCN1	1	185947027	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	26104151	185947027	63303594	6	6484											
CACNA1S	779	broad.mit.edu	37	chr1	201020210	201020210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcatagtccgactctgggtCacacagcttcccatagctgc	8	9	10	14	1	2	0	1	0	1	0	4	1	4	0	2	2	3	3	2	2	2	3			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:201020210C>T	uc001gvv.3	-	32	4242	c.4015G>A	c.(4015-4017)Gac>Aac	p.D1339N		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1339	Dihydropyridine binding (By similarity).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GACTCTGGGTCACACAGCTTC	0.547													6	118					0	0	1	0	0	T	201020210	C	T	201020210	3	4	143	1	0	0	0	0	1	0	0	0	2547	826	29	3	1654	3	CACNA1S	1	201020210	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	15073183	201020210	48230411	7	6485											
TTN	7273	broad.mit.edu	37	chr2	179414390	179414390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acggaattggtattcattgcCgtttattagtttaatggcag	10	16	10	5	2	1	0	1	0	0	0	1	1	1	1	1	3	1	4	1	3	5	9			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr2:179414390C>T	uc021vsy.1	-	286	84580	c.84355G>A	c.(84355-84357)Ggc>Agc	p.G28119S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G21814S|TTN_uc021vta.1_Missense_Mutation_p.G21747S|TTN_uc021vtb.1_Missense_Mutation_p.G21622S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29046	Fibronectin type-III 105.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTCATTGCCGTTTATTAGT	0.408													5	84					0	0	1	0	0	T	179414390	C	T	179414390	3	4	143	1	0	0	0	0	1	0	0	0	16732	652	23	2	16020	2	TTN	2	179414390	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08		179414390	63784983	8	6486											
ZSWIM2	151112	broad.mit.edu	37	chr2	187698677	187698677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatggatactgtacctcaCgaaatgtaaacgtgtgggaa	15	9	11	6	2	1	1	1	0	0	1	1	4	1	3	1	2	3	2	1	2	7	3			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr2:187698677C>T	uc002upu.1	-	5	864	c.824G>A	c.(823-825)cGt>cAt	p.R275H		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	275					apoptosis		zinc ion binding	p.R275C(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CTGTACCTCACGAAATGTAAA	0.363													13	60					0	0	1	0	0	T	187698677	C	T	187698677	3	4	143	1	0	0	0	0	1	0	0	0	18238	536	19	1	1093	1	ZSWIM2	2	187698677	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	8284287	187698677	55500696	9	6487											
CXCR1	3577	broad.mit.edu	37	chr2	219029298	219029298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcatgacaaacagcggcaCgatgaagccaaaggtgtgag	15	4	13	9	2	0	3	0	3	0	0	0	4	0	3	1	2	4	2	1	2	3	0			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr2:219029298C>T	uc021vwq.1	-	0	637	c.637G>A	c.(637-639)Gtg>Atg	p.V213M	CXCR1_uc002vhc.3_Missense_Mutation_p.V213M|HV303425_uc021vwr.1_5'Flank	NM_000634	NP_000625	P25024	CXCR1_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA.	213					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	p.V213M(2)		endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						AACAGCGGCACGATGAAGCCA	0.522													10	114					0	0	1	0	0	T	219029298	C	T	219029298	3	4	143	1	0	0	0	0	1	0	0	0	4090	536	19	1	419	1	CXCR1	2	219029298	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	31330621	219029298	24170075	10	6488											
PCBP4	57060	broad.mit.edu	37	chr3	51993277	51993277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggtgtggcaaaggggaccGcatggcttgagagctgctgg	7	8	19	7	1	0	1	0	1	0	1	0	3	0	2	1	6	2	5	1	6	1	1			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr3:51993277G>A	uc003dcc.2	-	6	1452	c.731C>T	c.(730-732)gCg>gTg	p.A244V	PCBP4_uc003dcb.2_Missense_Mutation_p.A189V|PCBP4_uc003dcf.2_Missense_Mutation_p.A223V|PCBP4_uc003dce.2_Silent_p.C224C|PCBP4_uc003dcg.2_Missense_Mutation_p.A189V|PCBP4_uc003dcj.2_Missense_Mutation_p.A223V|PCBP4_uc003dck.2_Missense_Mutation_p.A180V|PCBP4_uc003dch.2_Missense_Mutation_p.A223V|PCBP4_uc003dci.2_Missense_Mutation_p.A63V			P57723	PCBP4_HUMAN	Homo sapiens poly(rC) binding protein 4 (PCBP4), transcript variant 4, mRNA.	223	KH 3.					cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AAAGGGGACCGCATGGCTTGA	0.637													3	50					0	0	1	0	0	A	51993277	G	A	51993277	3	1	143	1	0	0	0	0	1	0	0	0	11503	1087	38	1	559	1	PCBP4	3	51993277	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08		51993277	146029153	11	6489											
PDE12	201626	broad.mit.edu	37	chr3	57542756	57542757	+	Frame_Shift_Ins	INS	-	-	T																															ggtgtcccctcgtcattgtcINStccctcctcaccttcttctt																										TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr3:57542756_57542757insT	uc003diw.4	+	0	776_777	c.650_651insT	c.(649-651)tctfs	p.S217fs	PDE12_uc003div.3_Frame_Shift_Ins_p.S217fs	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN	Homo sapiens phosphodiesterase 12 (PDE12), mRNA.	217							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		TCGTCATTGTCTCCCTCCTCAC	0.594													43	275	---	---	---	---						T	57542757	-	T	57542756	7	5	143	1	0	1	1	0	0	0	0	0	11632	913	32	0	652	0	PDE12	3	57542756	Frame_Shift_Ins	INS	-	TCGA-FG-7643-01A-11D-2086-08	5549479	57542756	140479674	12	6490											
C3orf14	57415	broad.mit.edu	37	chr3	62317051	62317051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggattcacccacttccaCggcctgaggtggtttctctt	6	12	9	14	1	2	1	1	1	1	0	4	2	3	2	4	4	0	1	4	4	0	4			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr3:62317051C>T	uc003dlf.3	+	4	373	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	C3orf14_uc010hnq.3_Missense_Mutation_p.R77W|C3orf14_uc003dlg.3_Missense_Mutation_p.R77W	NM_020685	NP_065736	Q9HBI5	CC014_HUMAN	Homo sapiens chromosome 3 open reading frame 14 (C3orf14), mRNA.	77								p.R77W(2)		central_nervous_system(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)		CCCACTTCCACGGCCTGAGGT	0.388													17	102					0	0	1	0	0	T	62317051	C	T	62317051	3	4	143	1	0	0	0	0	1	0	0	0	2208	527	19	1	239	1	C3orf14	3	62317051	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	4774295	62317051	135705379	13	6491											
EPHA6	285220	broad.mit.edu	37	chr3	97329663	97329663	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtaatgattgtggtggaaTatatggagaatggatcccta	13	12	12	4	0	0	2	0	1	0	1	1	5	1	4	1	4	0	1	1	4	6	5			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr3:97329663T>C	uc010how.1	+	12	2582	c.2539T>C	c.(2539-2541)Tat>Cat	p.Y847H	EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_Missense_Mutation_p.Y213H|EPHA6_uc003drs.4_Missense_Mutation_p.Y239H|EPHA6_uc003drr.4_Missense_Mutation_p.Y239H|EPHA6_uc003drt.3_Missense_Mutation_p.Y239H|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	752	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGTGGTGGAATATATGGAGAA	0.373													6	112					0	0	1	0	0	C	97329663	T	C	97329663	3	2	143	1	0	0	0	0	1	0	0	0	5171	1406	49	3	2657	3	EPHA6	3	97329663	Missense_Mutation	SNP	T	TCGA-FG-7643-01A-11D-2086-08	35012612	97329663	100692767	14	6492											
WDR1	9948	broad.mit.edu	37	chr4	10077032	10077032	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgtccactccttgacagaGgcatcatgggaggtcgtgac	9	10	12	10	1	1	3	1	2	0	1	4	4	3	4	2	3	0	1	2	3	0	2			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:10077032G>A	uc021xlv.1	-	14	2074	c.1791C>T	c.(1789-1791)gcC>gcT	p.A597A	WDR1_uc021xlw.1_Silent_p.A457A|WDR1_uc010idm.3_Non-coding_Transcript	NM_017491	NP_059830	O75083	WDR1_HUMAN	Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA.	597					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CCTTGACAGAGGCATCATGGG	0.567													7	53					0	0	1	0	0	A	10077032	G	A	10077032	2	1	143	1	0	0	0	0	0	0	0	1	17269	987	35	3		3	WDR1	4	10077032	Silent	SNP	G	TCGA-FG-7643-01A-11D-2086-08		10077032	181077244	15	6493											
GABRG1	2565	broad.mit.edu	37	chr4	46060562	46060562	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacaaatgcaaactgatataAtctccagtatttaggatcag	16	12	6	7	0	2	1	1	1	1	0	3	2	2	2	1	1	3	2	1	1	7	6			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:46060562A>G	uc003gxb.3	-	5	855	c.703T>C	c.(703-705)Tta>Cta	p.L235L		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	235					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AACTGATATAATCTCCAGTAT	0.348													10	69					0	0	1	0	0	G	46060562	A	G	46060562	2	3	143	1	0	0	0	0	0	0	0	1	6171	98	4	3		3	GABRG1	4	46060562	Silent	SNP	A	TCGA-FG-7643-01A-11D-2086-08	35983530	46060562	145093714	16	6494											
POLR2B	5431	broad.mit.edu	37	chr4	57873149	57873149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcaaaagaaagctcatcaagCcagagctggagtatctcagg	15	7	10	9	0	4	2	4	0	1	2	5	3	4	3	1	2	3	3	1	2	5	1			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:57873149C>T	uc003hcl.1	+	9	1428	c.1385C>T	c.(1384-1386)gCc>gTc	p.A462V	POLR2B_uc011cae.1_Missense_Mutation_p.A455V|POLR2B_uc011caf.1_Missense_Mutation_p.A387V|POLR2B_uc003hcm.1_5'Flank	NM_000938	NP_000929	P30876	RPB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.	462					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GCTCATCAAGCCAGAGCTGGA	0.378													10	58					0	0	1	0	0	T	57873149	C	T	57873149	3	4	143	1	0	0	0	0	1	0	0	0	12215	739	26	3	1423	3	POLR2B	4	57873149	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	11812587	57873149	133281127	17	6495											
CCDC158	339965	broad.mit.edu	37	chr4	77255306	77255306	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatcttccttcagtgtgttAgcttttgtagagtgctgagt	6	17	12	6	0	2	2	1	1	1	1	3	3	3	3	1	1	2	4	1	1	2	6			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:77255306A>T	uc003hkb.4	-	17	2832	c.2679T>A	c.(2677-2679)gcT>gcA	p.A893A		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	893										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TCAGTGTGTTAGCTTTTGTAG	0.393													5	69					0	0	1	0	0	T	77255306	A	T	77255306	2	4	143	1	0	0	0	0	0	0	0	1	2790	407	15	5		5	CCDC158	4	77255306	Silent	SNP	A	TCGA-FG-7643-01A-11D-2086-08	19382157	77255306	113898970	18	6496											
KLHL8	57563	broad.mit.edu	37	chr4	88091688	88091688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctatgtcatatctctccaCatcattgaagcaagtattgt	11	16	5	9	0	4	1	2	1	2	0	6	1	5	1	1	0	1	2	1	0	5	6			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:88091688C>T	uc011cdb.1	-	6	1673	c.1288G>A	c.(1288-1290)Gtg>Atg	p.V430M	KLHL8_uc003hql.1_Missense_Mutation_p.V430M|KLHL8_uc003hqm.1_Missense_Mutation_p.V354M|KLHL8_uc003hqn.1_Missense_Mutation_p.V247M|KLHL8_uc010ikj.1_Missense_Mutation_p.V79M	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN	Homo sapiens kelch-like 8 (Drosophila) (KLHL8), mRNA.	430										breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TATCTCTCCACATCATTGAAG	0.428													10	128					0	0	1	0	0	T	88091688	C	T	88091688	3	4	143	1	0	0	0	0	1	0	0	0	8395	478	17	3	590	3	KLHL8	4	88091688	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	10836382	88091688	103062588	19	6497											
TRIM60	166655	broad.mit.edu	37	chr4	165962517	165962517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatctttccttttataatatGaatgataggtctattctcta	11	19	5	6	0	3	2	0	2	3	0	5	3	4	2	1	1	0	0	1	1	7	9			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:165962517G>A	uc003iqy.1	+	2	1463	c.1293G>A	c.(1291-1293)atG>atA	p.M431I	TRIM60_uc010iqx.1_Missense_Mutation_p.M431I|TRIM60_uc021xty.1_Missense_Mutation_p.M431I	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	Homo sapiens tripartite motif containing 60 (TRIM60), mRNA.	431	B30.2/SPRY.					intracellular	zinc ion binding	p.M431T(1)		NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TTTATAATATGAATGATAGGT	0.373													6	89					0	0	1	0	0	A	165962517	G	A	165962517	3	1	143	1	0	0	0	0	1	0	0	0	16532	1290	45	3	1295	3	TRIM60	4	165962517	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	77870829	165962517	25191759	20	6498											
ADCY2	108	broad.mit.edu	37	chr5	7520913	7520913	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccttcaacatgcgagaCgccatcattgccagcgtcct	8	9	8	16	3	2	1	2	0	0	1	3	2	3	1	4	0	5	0	4	0	1	2			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:7520913C>T	uc003jdz.1	+	2	538	c.471C>T	c.(469-471)gaC>gaT	p.D157D		NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	157					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.D157D(2)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACATGCGAGACGCCATCATTG	0.547													6	87					0	0	1	0	0	T	7520913	C	T	7520913	2	4	143	1	0	0	0	0	0	0	0	1	294	535	19	1		1	ADCY2	5	7520913	Silent	SNP	C	TCGA-FG-7643-01A-11D-2086-08		7520913	173394347	21	6499											
C5orf42	65250	broad.mit.edu	37	chr5	37169185	37169185	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catattgatccaagttcacaTgattaggaatttctgtaatt	13	16	6	6	0	2	2	1	2	1	0	3	3	3	3	1	1	0	2	1	1	5	7			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:37169185T>C	uc011cpa.1	-	33	7172	c.6941A>G	c.(6940-6942)cAt>cGt	p.H2314R	C5orf42_uc011coy.1_Missense_Mutation_p.H814R|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.H1389R|C5orf42_uc003jkr.1_Missense_Mutation_p.H347R	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2314										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CAAGTTCACATGATTAGGAAT	0.373													11	92					0	0	1	0	0	C	37169185	T	C	37169185	3	2	143	1	0	0	0	0	1	0	0	0	2301	1464	51	3	2728	3	C5orf42	5	37169185	Missense_Mutation	SNP	T	TCGA-FG-7643-01A-11D-2086-08	29648272	37169185	143746075	22	6500											
C7	730	broad.mit.edu	37	chr5	40934551	40934551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaggagggatgtggagagcGtttcaggtgcttttcaggta	9	11	17	4	1	2	2	2	0	0	2	2	5	2	4	0	5	2	3	0	5	1	4			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:40934551G>A	uc003jmh.3	+	3	377	c.263G>A	c.(262-264)cGt>cAt	p.R88H	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	88	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TGTGGAGAGCGTTTCAGGTGC	0.423													27	170					0	0	1	0	0	A	40934551	G	A	40934551	3	1	143	1	0	0	0	0	1	0	0	0	2375	1145	40	1	277	1	C7	5	40934551	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	3765366	40934551	139980709	23	6501											
ATP6AP1L	92270	broad.mit.edu	37	chr5	81613927	81613927	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtccctgatcctgctgctGgtgttggcctatgccctgca	4	13	11	13	0	0	1	0	1	0	0	2	1	2	1	4	2	4	4	4	2	1	2			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:81613927G>A	uc003khv.3	+	9	1808	c.483G>A	c.(481-483)ctG>ctA	p.L161L	ATP6AP1L_uc003khw.3_Silent_p.L161L	NM_001017971	NP_001017971	Q52LC2	VAS1L_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal accessory protein 1-like (ATP6AP1L), mRNA.	161					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						TCCTGCTGCTGGTGTTGGCCT	0.557													5	70					0	0	1	0	0	A	81613927	G	A	81613927	2	1	143	1	0	0	0	0	0	0	0	1	1166	1335	47	3		3	ATP6AP1L	5	81613927	Silent	SNP	G	TCGA-FG-7643-01A-11D-2086-08	40679376	81613927	99301333	24	6502											
GPR98	84059	broad.mit.edu	37	chr5	90106376	90106376	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttacttcagtagaaattaGgggattacaaaagtttgatg	14	13	9	5	0	1	2	1	1	0	1	1	3	1	3	1	2	2	2	1	2	7	6			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:90106376G>T	uc003kju.3	+	73	15395	c.15299G>T	c.(15298-15300)aGg>aTg	p.R5100M	GPR98_uc003kjt.3_Missense_Mutation_p.R2806M|GPR98_uc003kjw.3_Missense_Mutation_p.R761M	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5100					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTAGAAATTAGGGGATTACAA	0.333													10	122					0.000978159	0.000990088	1	1	0	T	90106376	G	T	90106376	3	4	143	1	0	0	0	0	1	0	0	0	6721	1000	35	5	15593	5	GPR98	5	90106376	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	8492449	90106376	90808884	25	6503											
SLCO6A1	133482	broad.mit.edu	37	chr5	101709135	101709135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcagtgttctcatttagaCgacgtttgtatatgaaaaat	13	15	8	5	2	2	2	2	1	1	1	3	3	2	2	0	0	0	3	0	0	5	6			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:101709135C>T	uc003knn.3	-	12	2253	c.2081G>A	c.(2080-2082)cGt>cAt	p.R694H	SLCO6A1_uc003kno.3_Missense_Mutation_p.R441H|SLCO6A1_uc003knp.3_Missense_Mutation_p.R694H|SLCO6A1_uc003knq.3_Missense_Mutation_p.R632H	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	694						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CTCATTTAGACGACGTTTGTA	0.323													12	120					0	0	1	0	0	T	101709135	C	T	101709135	3	4	143	1	0	0	0	0	1	0	0	0	14732	536	19	1	82	1	SLCO6A1	5	101709135	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	11602759	101709135	79206125	26	6504											
EGR1	1958	broad.mit.edu	37	chr5	137803725	137803725	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcgcctccacagggctttcGgacatgacagcaaccttttc	9	9	9	14	2	0	1	0	1	0	0	3	2	1	2	3	2	3	2	3	2	1	3			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:137803725G>A	uc003ldb.1	+	1	1857	c.1587G>A	c.(1585-1587)tcG>tcA	p.S529S		NM_001964	NP_001955	P18146	EGR1_HUMAN	Homo sapiens early growth response 1 (EGR1), mRNA.	529					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAGGGCTTTCGGACATGACAG	0.512													17	128					0	0	1	0	0	A	137803725	G	A	137803725	2	1	143	1	0	0	0	0	0	0	0	1	4971	1103	39	2		2	EGR1	5	137803725	Silent	SNP	G	TCGA-FG-7643-01A-11D-2086-08	36094590	137803725	43111535	27	6505											
PCDHB8	56128	broad.mit.edu	37	chr5	140558380	140558380	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtgcagatctctgaggaCagtccaataagcttcctggt	10	10	12	9	0	1	2	0	1	1	1	4	3	3	3	2	3	2	2	2	3	2	2			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:140558380C>G	uc011dai.2	+	0	1010	c.765C>G	c.(763-765)gaC>gaG	p.D255E	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	255	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTCTGAGGACAGTCCAATAA	0.468													27	162					0	0	1	0	0	G	140558380	C	G	140558380	3	3	143	1	0	0	0	0	1	0	0	0	11548	477	17	5	767	5	PCDHB8	5	140558380	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	2754655	140558380	40356880	28	6506											
DIAPH1	1729	broad.mit.edu	37	chr5	140908744	140908744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggcctcactcaccaccaCgccaaactgctctgactcag	11	6	6	18	1	4	1	3	1	1	0	4	1	4	1	4	1	2	1	4	1	1	0			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:140908744C>T	uc003llb.4	-	20	2914	c.2773G>A	c.(2773-2775)Gtg>Atg	p.V925M	DIAPH1_uc011dbd.2_5'Flank|DIAPH1_uc003llc.4_Missense_Mutation_p.V916M|DIAPH1_uc021yep.1_Missense_Mutation_p.V925M|DIAPH1_uc021yeq.1_Missense_Mutation_p.V916M|DIAPH1_uc010jgc.1_Missense_Mutation_p.V361M	NM_005219	NP_005210	O60610	DIAP1_HUMAN	Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.	925	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	Rho GTPase binding|actin binding|receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACCACCACGCCAAACTGC	0.512													16	135					0	0	1	0	0	T	140908744	C	T	140908744	3	4	143	1	0	0	0	0	1	0	0	0	4518	536	19	1	1077	1	DIAPH1	5	140908744	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	350364	140908744	40006516	29	6507											
SPINK5	11005	broad.mit.edu	37	chr5	147491350	147491350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgtgcagtgaatatcGtcattatgtgaggaatggac	11	11	14	5	1	1	2	1	2	0	0	2	5	1	5	0	3	2	2	0	3	4	2			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:147491350G>A	uc003lox.2	+	18	1785	c.1712G>A	c.(1711-1713)cGt>cAt	p.R571H	SPINK5_uc010jgs.1_Missense_Mutation_p.R543H|SPINK5_uc010jgr.2_Missense_Mutation_p.R552H|SPINK5_uc003low.2_Missense_Mutation_p.R571H|SPINK5_uc003loy.2_Missense_Mutation_p.R571H	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	571	Kazal-like 9.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity	p.R571C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGAATATCGTCATTATGTG	0.433													17	79					0	0	1	0	0	A	147491350	G	A	147491350	3	1	143	1	0	0	0	0	1	0	0	0	15061	1145	40	1	1786	1	SPINK5	5	147491350	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	6582606	147491350	33423910	30	6508											
FAM71B	153745	broad.mit.edu	37	chr5	156589802	156589802	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgcgagaggagccatgtcGcttgccccttacgttgctgt	5	12	12	12	3	0	1	0	0	0	1	1	3	0	2	3	1	5	3	3	1	1	4			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:156589802G>A	uc003lwn.3	-	1	1574	c.1474C>T	c.(1474-1476)Cga>Tga	p.R492*		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	492						nucleus		p.R492Q(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGCCATGTCGCTTGCCCCTT	0.512													16	109					0	0	1	0	0	A	156589802	G	A	156589802	4	1	143	1	0	0	0	0	0	1	0	0	5608	1095	38	1	347	1	FAM71B	5	156589802	Nonsense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	9098452	156589802	24325458	31	6509											
CDSN	1041	broad.mit.edu	37	chr6	31083952	31083952	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacagggcttggcaccagcGgagggatcaggatggggaga	10	4	18	9	1	1	1	1	0	0	1	1	5	1	4	2	7	1	2	2	7	0	1			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr6:31083952G>A	uc003nsm.2	-	1	1496	c.1440C>T	c.(1438-1440)tcC>tcT	p.S480S	PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	Homo sapiens corneodesmosin (CDSN), mRNA.	480					cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						TGGCACCAGCGGAGGGATCAG	0.622													9	52					0	0	1	0	0	A	31083952	G	A	31083952	2	1	143	1	0	0	0	0	0	0	0	1	3179	1103	39	2		2	CDSN	6	31083952	Silent	SNP	G	TCGA-FG-7643-01A-11D-2086-08		31083952	140031115	32	6510											
MICB	4277	broad.mit.edu	37	chr6	31473999	31473999	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctcccggcatttctactaCgatggggagctcttcctctc	5	12	10	14	2	3	0	0	0	3	0	6	2	5	1	2	4	3	3	2	4	2	4			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr6:31473999C>T	uc003ntn.4	+	2	521	c.405C>T	c.(403-405)taC>taT	p.Y135Y	MICB_uc011dnm.2_Silent_p.Y103Y|MICB_uc021yuq.1_Silent_p.Y103Y|MICB_uc003nto.4_Intron	NM_005931	NP_005922	Q29980	MICB_HUMAN	Homo sapiens MHC class I polypeptide-related sequence B (MICB), mRNA.	135					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	MHC class I protein complex|integral to plasma membrane	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						ATTTCTACTACGATGGGGAGC	0.552													4	46					0	0	1	0	0	T	31473999	C	T	31473999	2	4	143	1	0	0	0	0	0	0	0	1	9575	547	19	1		1	MICB	6	31473999	Silent	SNP	C	TCGA-FG-7643-01A-11D-2086-08	390047	31473999	139641068	33	6511											
ROS1	6098	broad.mit.edu	37	chr6	117686238	117686238	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtacctgtttcaggtgctcGaagtgacagagatgttttgg	8	14	13	6	1	1	2	1	1	0	1	2	4	1	2	1	2	2	4	1	2	2	4			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr6:117686238G>A	uc003pxp.1	-	19	3302	c.3103C>T	c.(3103-3105)Cga>Tga	p.R1035*	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1035	Fibronectin type-III 4.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.R1035*(3)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCAGGTGCTCGAAGTGACAGA	0.378			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								13	81					0	0	1	0	0	A	117686238	G	A	117686238	4	1	143	1	0	0	0	0	0	1	0	0	13531	1066	37	2	4036	2	ROS1	6	117686238	Nonsense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	86212239	117686238	53428829	34	6512											
GARS	2617	broad.mit.edu	37	chr7	30651808	30651808	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttgctgctgcccagatTggaaattcttttagaaatga	10	15	8	8	0	1	3	0	1	1	2	1	4	1	4	2	1	3	2	2	1	3	6			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr7:30651808T>G	uc003tbm.3	+	7	1335	c.978T>G	c.(976-978)atT>atG	p.I326M		NM_002047	NP_002038	P41250	SYG_HUMAN	Homo sapiens glycyl-tRNA synthetase (GARS), mRNA.	326					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	CTGCCCAGATTGGAAATTCTT	0.423													9	84					0	0	1	0	0	G	30651808	T	G	30651808	3	3	143	1	0	0	0	0	1	0	0	0	6242	1800	63	5	1008	5	GARS	7	30651808	Missense_Mutation	SNP	T	TCGA-FG-7643-01A-11D-2086-08		30651808	128486855	35	6513											
MAGI2	9863	broad.mit.edu	37	chr7	77885614	77885614	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagtgcagagaatgaggcgGccgatctgttatatctggaa	11	9	15	6	2	2	2	0	1	2	1	2	6	2	4	1	4	1	2	1	4	4	2			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr7:77885614G>T	uc003ugx.3	-	9	1947	c.1693C>A	c.(1693-1695)Ccg>Acg	p.P565T	MAGI2_uc003ugy.3_Missense_Mutation_p.P565T|MAGI2_uc010ldx.1_Missense_Mutation_p.P174T|MAGI2_uc010ldy.1_Missense_Mutation_p.P174T|MAGI2_uc011kgr.1_Missense_Mutation_p.P397T|MAGI2_uc011kgs.1_Missense_Mutation_p.P402T	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	565						cell junction|synapse|synaptosome	phosphatase binding	p.P565L(1)|p.R564Q(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GAATGAGGCGGCCGATCTGTT	0.507													7	98					1.06961e-07	1.13818e-07	1	1	0	T	77885614	G	T	77885614	3	4	143	1	0	0	0	0	1	0	0	0	9191	1203	42	5	2726	5	MAGI2	7	77885614	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	47233806	77885614	81253049	36	6514											
LAMB4	22798	broad.mit.edu	37	chr7	107732214	107732214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcacactgcccattcttggGtgagcacctgaggaaaaagc	11	9	10	11	0	2	2	1	2	1	0	2	3	2	3	2	2	3	1	2	2	2	3	rs143703672		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr7:107732214G>A	uc010ljo.1	-	13	1642	c.1558C>T	c.(1558-1560)Ccc>Tcc	p.P520S	LAMB4_uc003vey.2_Missense_Mutation_p.P520S	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	520	Laminin EGF-like 5; truncated.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CCATTCTTGGGTGAGCACCTG	0.493													8	110					0	0	1	0	0	A	107732214	G	A	107732214	3	1	143	1	0	0	0	0	1	0	0	0	8613	1261	44	3	3811	3	LAMB4	7	107732214	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	29846600	107732214	51406449	37	6515											
EPHX2	2053	broad.mit.edu	37	chr8	27382881	27382881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctcttatttctgtagggCggtggccagtttgaatactc	6	15	11	9	1	2	1	0	1	2	0	3	1	2	1	2	3	2	2	2	3	4	5	rs76549048		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr8:27382881C>T	uc003xfu.3	+	11	1142	c.1061C>T	c.(1060-1062)gCg>gTg	p.A354V	EPHX2_uc010lut.1_Missense_Mutation_p.A354V|EPHX2_uc010luv.3_Missense_Mutation_p.A288V|EPHX2_uc003xfv.3_Missense_Mutation_p.A301V|EPHX2_uc010luw.3_Missense_Mutation_p.A288V	NM_001979	NP_001970	P34913	HYES_HUMAN	Homo sapiens epoxide hydrolase 2, cytoplasmic (EPHX2), mRNA.	354	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	Golgi apparatus|cytosol|focal adhesion|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity	p.A354V(2)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	TTCTGTAGGGCGGTGGCCAGT	0.463													9	128					0	0	1	0	0	T	27382881	C	T	27382881	3	4	143	1	0	0	0	0	1	0	0	0	5180	768	27	1	1107	1	EPHX2	8	27382881	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08		27382881	118981141	38	6516											
KIF13B	23303	broad.mit.edu	37	chr8	28981588	28981588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgatccaagtactcctgaCgttttgttaatgcatttagc	9	16	8	8	1	0	2	0	2	0	0	2	2	2	2	2	0	3	5	2	0	4	7			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr8:28981588C>T	uc003xhh.4	-	26	3364	c.3305G>A	c.(3304-3306)cGt>cAt	p.R1102H	AF086219_uc003xhi.1_Intron	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	1102					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GTACTCCTGACGTTTTGTTAA	0.343													5	39					0	0	1	0	0	T	28981588	C	T	28981588	3	4	143	1	0	0	0	0	1	0	0	0	8275	536	19	1	2231	1	KIF13B	8	28981588	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	1598707	28981588	117382434	39	6517											
WRN	7486	broad.mit.edu	37	chr8	30938764	30938764	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaactccaaattttggaacaGcagtctcaggaagaatatct	15	10	8	8	0	2	1	1	0	2	1	4	4	3	3	1	2	3	1	1	2	6	3			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr8:30938764G>A	uc003xio.4	+	8	2009	c.1221G>A	c.(1219-1221)caG>caA	p.Q407Q	WRN_uc011lbd.1_Silent_p.Q110Q|WRN_uc011lbe.1_5'Flank	NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	407					DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			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)		TTTTGGAACAGCAGTCTCAGG	0.338			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				6	78					0	0	1	0	0	A	30938764	G	A	30938764	2	1	143	1	0	0	0	0	0	0	0	1	17399	962	34	3		3	WRN	8	30938764	Silent	SNP	G	TCGA-FG-7643-01A-11D-2086-08	1957176	30938764	115425258	40	6518											
RP1	6101	broad.mit.edu	37	chr8	55533746	55533746	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggataacttgtccaggaagGtgcccctcccttttggagtg	7	12	12	10	0	0	0	0	0	0	0	2	3	2	3	4	4	2	0	4	4	2	4			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr8:55533746G>T	uc003xsd.1	+	1	368	c.220G>T	c.(220-222)Gtg>Ttg	p.V74L	RP1_uc011ldy.1_Missense_Mutation_p.V74L	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	74	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTCCAGGAAGGTGCCCCTCCC	0.597													11	169					9.05144e-12	1.00169e-11	1	1	0	T	55533746	G	T	55533746	3	4	143	1	0	0	0	0	1	0	0	0	13532	1261	44	5	222	5	RP1	8	55533746	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	24594982	55533746	90830276	41	6519											
CYP7A1	1581	broad.mit.edu	37	chr8	59409693	59409693	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggttttgatgaaagtgtcGtttatgttttcagtggtatt	8	19	12	2	1	1	2	1	2	0	0	2	2	1	2	0	2	0	4	0	2	3	8			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr8:59409693G>A	uc003xtm.4	-	2	441	c.378C>T	c.(376-378)aaC>aaT	p.N126N		NM_000780	NP_000771	P22680	CP7A1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA.	126					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TGAAAGTGTCGTTTATGTTTT	0.443									Neonatal Giant Cell Hepatitis				6	87					0	0	1	0	0	A	59409693	G	A	59409693	2	1	143	1	0	0	0	0	0	0	0	1	4196	1136	40	1		1	CYP7A1	8	59409693	Silent	SNP	G	TCGA-FG-7643-01A-11D-2086-08	3875947	59409693	86954329	42	6520											
MPDZ	8777	broad.mit.edu	37	chr9	13206053	13206053	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtatgtcgcaatacctCtactgcttgctgattagtaa	9	15	7	10	1	1	1	0	1	1	0	3	1	2	1	2	0	4	5	2	0	6	6			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr9:13206053C>A	uc010mia.1	-	9	1393	c.1336G>T	c.(1336-1338)Gag>Tag	p.E446*	MPDZ_uc010mhz.3_Nonsense_Mutation_p.E446*|MPDZ_uc011lmn.2_Nonsense_Mutation_p.E446*|MPDZ_uc010mhy.3_Nonsense_Mutation_p.E446*|MPDZ_uc003zlb.4_Nonsense_Mutation_p.E446*	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	446	PDZ 3.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CGCAATACCTCTACTGCTTGC	0.393													3	31					1	1	1	1	0	A	13206053	C	A	13206053	4	1	143	1	0	0	0	0	0	1	0	0	9722	922	32	5	4933	5	MPDZ	9	13206053	Nonsense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08		13206053	128007378	43	6521											
RTKN2	219790	broad.mit.edu	37	chr10	63957831	63957831	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagttttcgaggagcagccaTtggtttctgtaagtgatgca	10	13	12	6	1	1	1	0	1	1	0	2	3	1	2	1	2	3	5	1	2	2	5			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr10:63957831T>C	uc001jlw.3	-	11	1763	c.1666A>G	c.(1666-1668)Atg>Gtg	p.M556V	RTKN2_uc009xpf.1_Intron|RTKN2_uc001jlv.3_Missense_Mutation_p.M210V	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN	Homo sapiens rhotekin 2 (RTKN2), mRNA.	556					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GGAGCAGCCATTGGTTTCTGT	0.428													15	75					0	0	1	0	0	C	63957831	T	C	63957831	3	2	143	1	0	0	0	0	1	0	0	0	13723	1493	52	3	167	3	RTKN2	10	63957831	Missense_Mutation	SNP	T	TCGA-FG-7643-01A-11D-2086-08		63957831	71576916	44	6522											
PLEKHA1	59338	broad.mit.edu	37	chr10	124157455	124157455	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctaccttctggatcatcaCgtgttggagccattaagctt	9	13	8	11	1	3	0	2	0	1	0	3	2	3	2	3	2	3	2	3	2	2	5			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr10:124157455C>T	uc001lge.2	+	2	412	c.163C>T	c.(163-165)Cgt>Tgt	p.R55C	PLEKHA1_uc001lgf.2_Missense_Mutation_p.R55C|PLEKHA1_uc001lgg.2_Missense_Mutation_p.R55C	NM_001001974	NP_067635	Q9HB21	PKHA1_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 (PLEKHA1), transcript variant 2, mRNA.	55	PH 1.				B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGATCATCACGTGTTGGAGC	0.299													16	66					0	0	1	0	0	T	124157455	C	T	124157455	3	4	143	1	0	0	0	0	1	0	0	0	12055	536	19	1	169	1	PLEKHA1	10	124157455	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	60199624	124157455	11377292	45	6523											
EBF3	253738	broad.mit.edu	37	chr10	131761728	131761728	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcacgaagtggaagaaattgGatttccggaggttggaaggc	12	8	16	5	2	0	1	0	0	0	1	1	6	1	5	1	6	0	2	1	6	4	3			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr10:131761728G>T	uc021qav.1	-	1	253	c.152C>A	c.(151-153)tCc>tAc	p.S51Y	EBF3_uc001lki.2_Missense_Mutation_p.S65Y|EBF3_uc010qur.1_Missense_Mutation_p.S51Y	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	65					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding	p.R51L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GAAGAAATTGGATTTCCGGAG	0.612													8	59					0.000673444	0.000690072	1	1	0	T	131761728	G	T	131761728	3	4	143	1	0	0	0	0	1	0	0	0	4882	1174	41	5	1521	5	EBF3	10	131761728	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	7604273	131761728	3773019	46	6524											
NLRP6	171389	broad.mit.edu	37	chr11	281299	281299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcggggtgcccaggaccgCggctggcggcgttgggacac	4	4	20	13	6	0	0	0	0	0	0	0	2	0	2	2	8	1	2	2	8	0	1			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:281299C>T	uc010qvs.2	+	3	1565	c.1565C>T	c.(1564-1566)gCg>gTg	p.A522V	NLRP6_uc010qvt.2_Missense_Mutation_p.A522V	NM_138329	NP_612202	P59044	NALP6_HUMAN	Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.	522						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCCAGGACCGCGGCTGGCGGC	0.677													5	21					0	0	1	0	0	T	281299	C	T	281299	3	4	143	1	0	0	0	0	1	0	0	0	10481	768	27	1	1579	1	NLRP6	11	281299	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08		281299	134725217	47	6525											
OR52M1	119772	broad.mit.edu	37	chr11	4567000	4567000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagttgccttgacatgtggcGacagcagggtcaataatgtc	10	11	12	8	1	1	1	1	1	0	0	2	2	1	1	1	2	2	2	1	2	3	4			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:4567000G>A	uc010qyf.2	+	0	580	c.580G>A	c.(580-582)Gac>Aac	p.D194N		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GACATGTGGCGACAGCAGGGT	0.512													31	181					0	0	1	0	0	A	4567000	G	A	4567000	3	1	143	1	0	0	0	0	1	0	0	0	11126	1058	37	2	582	2	OR52M1	11	4567000	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	4285701	4567000	130439516	48	6526											
OR51E1	143503	broad.mit.edu	37	chr11	4674486	4674486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggcatttggcacttgcGtctctcatgtgtgtgctgtg	5	14	12	10	1	2	0	1	0	1	0	3	0	2	0	1	2	2	3	1	2	1	2	rs148787592		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:4674486G>A	uc021qcq.1	+	0	730	c.730G>A	c.(730-732)Gtc>Atc	p.V244I	OR51E1_uc001lzi.4_Missense_Mutation_p.V244I	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V243I(2)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCACTTGCGTCTCTCATGT	0.498													13	75					0	0	1	0	0	A	4674486	G	A	4674486	3	1	143	1	0	0	0	0	1	0	0	0	11094	1145	40	1	732	1	OR51E1	11	4674486	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	107486	4674486	130332030	49	6527											
OR5D18	219438	broad.mit.edu	37	chr11	55587486	55587486	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatgaccgcttcgtggccatTtgcaaccctctgctctacac	7	12	7	15	2	2	1	0	1	2	0	3	1	2	1	3	1	4	3	3	1	3	4			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:55587486T>A	uc010rin.2	+	0	381	c.381T>A	c.(379-381)atT>atA	p.I127I		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCGTGGCCATTTGCAACCCTC	0.463													23	160					0	0	1	0	0	A	55587486	T	A	55587486	2	1	143	1	0	0	0	0	0	0	0	1	11157	1829	64	5		5	OR5D18	11	55587486	Silent	SNP	T	TCGA-FG-7643-01A-11D-2086-08	50913000	55587486	79419030	50	6528											
ROM1	6094	broad.mit.edu	37	chr11	62381890	62381890	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaccaaaacctctgggccCaagggtgccatgaggtgctg	10	6	12	13	0	1	1	0	1	1	0	1	1	1	1	5	3	4	1	5	3	4	0			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:62381890C>T	uc001ntv.3	+	1	1292	c.751C>T	c.(751-753)Caa>Taa	p.Q251*	EML3_uc001ntr.1_5'Flank|EML3_uc001nts.1_5'Flank|EML3_uc001ntt.1_5'Flank|EML3_uc001ntu.1_5'Flank|EML3_uc010rly.1_5'Flank	NM_000327	NP_000318	Q03395	ROM1_HUMAN	Homo sapiens retinal outer segment membrane protein 1 (ROM1), mRNA.	251					cell adhesion|visual perception	integral to plasma membrane				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						CCTCTGGGCCCAAGGGTGCCA	0.602													19	94					0	0	1	0	0	T	62381890	C	T	62381890	4	4	143	1	0	0	0	0	0	1	0	0	13521	595	21	3	757	3	ROM1	11	62381890	Nonsense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	6794404	62381890	72624626	51	6529											
TMEM151A	256472	broad.mit.edu	37	chr11	66063102	66063102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggagacagcggctgccaggGggatgggcagggtgctctct	6	6	19	10	2	1	1	0	0	1	1	2	3	1	2	1	6	3	3	1	6	0	0			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:66063102G>A	uc001ohl.3	+	1	1497	c.1385G>A	c.(1384-1386)gGg>gAg	p.G462E		NM_153266	NP_694998	Q8N4L1	T151A_HUMAN	Homo sapiens transmembrane protein 151A (TMEM151A), mRNA.	462						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						GGCTGCCAGGGGGATGGGCAG	0.657													4	27					0	0	1	0	0	A	66063102	G	A	66063102	3	1	143	1	0	0	0	0	1	0	0	0	16067	1232	43	3	1391	3	TMEM151A	11	66063102	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	3681212	66063102	68943414	52	6530											
TAS2R8	50836	broad.mit.edu	37	chr12	10959421	10959421	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgatcaaacaaattctggcGataactaaattggtaaggat	16	11	8	6	1	2	1	1	1	1	0	2	3	2	2	0	3	2	1	0	3	6	5			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr12:10959421G>A	uc010shh.2	-	0	159	c.159C>T	c.(157-159)atC>atT	p.I53I		NM_023918	NP_076407	Q9NYW2	TA2R8_HUMAN	Homo sapiens taste receptor, type 2, member 8 (TAS2R8), mRNA.	53					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AAATTCTGGCGATAACTAAAT	0.328													19	137					0	0	1	0	0	A	10959421	G	A	10959421	2	1	143	1	0	0	0	0	0	0	0	1	15584	1048	37	2		2	TAS2R8	12	10959421	Silent	SNP	G	TCGA-FG-7643-01A-11D-2086-08		10959421	122892474	53	6531											
GRIN2B	2904	broad.mit.edu	37	chr12	13716623	13716623	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accacgccgtgtttgtcgccCgtcccgtgcttgatgtgaga	5	11	12	13	5	0	2	0	2	0	1	2	3	1	2	4	0	1	2	4	0	0	2			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr12:13716623C>T	uc001rbt.2	-	12	3728	c.3549G>A	c.(3547-3549)acG>acA	p.T1183T		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1183					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTTTGTCGCCCGTCCCGTGCT	0.617													7	150					0	0	1	0	0	T	13716623	C	T	13716623	2	4	143	1	0	0	0	0	0	0	0	1	6780	639	23	2		2	GRIN2B	12	13716623	Silent	SNP	C	TCGA-FG-7643-01A-11D-2086-08	2757202	13716623	120135272	54	6532											
GRIN2B	2904	broad.mit.edu	37	chr12	13906702	13906702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctattctcaatggtgctgcGgatcttgtttacaaagtcct	8	15	9	9	1	2	0	1	0	2	0	4	1	3	1	1	2	3	3	1	2	4	5			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr12:13906702G>A	uc001rbt.2	-	2	738	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	187					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding	p.R187C(2)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGGTGCTGCGGATCTTGTTT	0.473													8	124					0	0	1	0	0	A	13906702	G	A	13906702	3	1	143	1	0	0	0	0	1	0	0	0	6780	1116	39	2	3939	2	GRIN2B	12	13906702	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	190079	13906702	119945193	55	6533											
C12orf63	374467	broad.mit.edu	37	chr12	97082742	97082742	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaactgactgttgcattttGtctgcgttactctttcaggt	8	17	8	8	1	3	1	1	1	2	0	3	1	3	1	0	1	4	3	0	1	3	5			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr12:97082742G>A	uc021rcc.1	+	9	1416	c.1338G>A	c.(1336-1338)ttG>ttA	p.L446L				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	446										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GTTGCATTTTGTCTGCGTTAC	0.274													18	113					0	0	1	0	0	A	97082742	G	A	97082742	2	1	143	1	0	0	0	0	0	0	0	1	1706	1368	48	3		3	C12orf63	12	97082742	Silent	SNP	G	TCGA-FG-7643-01A-11D-2086-08	83176040	97082742	36769153	56	6534											
CLN5	1203	broad.mit.edu	37	chr13	77570092	77570092	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaactggcaagaactacaCaatggaatggtatgaacttt	16	11	8	6	0	0	2	0	1	0	1	0	3	0	3	0	3	4	2	0	3	8	4			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr13:77570092C>T	uc001vkc.3	+	2	570	c.542C>T	c.(541-543)aCa>aTa	p.T181I		NM_006493	NP_006484	O75503	CLN5_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 5 (CLN5), mRNA.	132					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		AAGAACTACACAATGGAATGG	0.423													11	172					0	0	1	0	0	T	77570092	C	T	77570092	3	4	143	1	0	0	0	0	1	0	0	0	3544	478	17	3	552	3	CLN5	13	77570092	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08		77570092	37599786	57	6535											
LTBP2	4053	broad.mit.edu	37	chr14	75017918	75017918	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctggcaggcagccagggcGggggtctggtctccacgctg	4	6	19	12	2	2	0	0	0	2	0	3	0	2	0	2	7	1	4	2	7	0	0			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr14:75017918G>A	uc001xqa.3	-	6	1922	c.1535C>T	c.(1534-1536)cCg>cTg	p.P512L		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	512					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.P512P(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CAGCCAGGGCGGGGGTCTGGT	0.706													5	40					0	0	1	0	0	A	75017918	G	A	75017918	3	1	143	1	0	0	0	0	1	0	0	0	9074	1116	39	2	4050	2	LTBP2	14	75017918	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08		75017918	32331622	58	6536											
C15orf54	400360	broad.mit.edu	37	chr15	39544388	39544388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtggcaggagaccccagaggGctgagccgcaaagaatttgc	11	5	15	10	1	0	4	0	1	0	3	0	5	0	4	3	3	2	3	3	3	2	1			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr15:39544388G>A	uc001zkg.2	+	1	420	c.52G>A	c.(52-54)Gct>Act	p.A18T	C15orf54_uc021sjb.1_Missense_Mutation_p.A18T	NM_207445	NP_997328	Q8N8G6	CO054_HUMAN	Homo sapiens chromosome 15 open reading frame 54 (C15orf54), mRNA.	18										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		ACCCCAGAGGGCTGAGCCGCA	0.468													18	306					0	0	1	0	0	A	39544388	G	A	39544388	3	1	143	1	0	0	0	0	1	0	0	0	1802	1203	42	3	54	3	C15orf54	15	39544388	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08		39544388	62987004	59	6537											
IL16	3603	broad.mit.edu	37	chr15	81592440	81592440	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtgtctgagtcccctcccCcagggcggcagcccaatcag	6	7	12	16	1	2	1	1	1	1	0	4	1	4	1	5	2	1	1	5	2	1	0			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr15:81592440C>G	uc021ssh.1	+	12	2874	c.2773C>G	c.(2773-2775)Cca>Gca	p.P925A	IL16_uc010blq.1_Missense_Mutation_p.P879A|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Missense_Mutation_p.P967A|IL16_uc002bgg.3_Missense_Mutation_p.P925A|IL16_uc002bgi.1_Missense_Mutation_p.P315A|IL16_uc002bgj.3_Missense_Mutation_p.P419A|IL16_uc021ssi.1_Missense_Mutation_p.P224A|IL16_uc002bgl.1_Missense_Mutation_p.P224A|IL16_uc010unq.1_Missense_Mutation_p.P224A	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	925					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GTCCCCTCCCCCAGGGCGGCA	0.642													11	70					0	0	1	0	0	G	81592440	C	G	81592440	3	3	143	1	0	0	0	0	1	0	0	0	7633	623	22	5	2823	5	IL16	15	81592440	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	42048052	81592440	20938952	60	6538											
FAM169B	283777	broad.mit.edu	37	chr15	99023868	99023868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacccaacagccgctccacGtctccacaggattttagctt	11	9	6	15	2	1	0	0	0	1	0	3	1	2	1	4	1	4	2	4	1	3	3	rs141122936	by1000genomes	TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr15:99023868G>A	uc002buk.1	-	3	395	c.145C>T	c.(145-147)Cgt>Tgt	p.R49C		NM_182562	NP_872368	Q8N8A8	F169B_HUMAN	Homo sapiens family with sequence similarity 169, member B (FAM169B), mRNA.	49										large_intestine(3)|lung(3)|urinary_tract(1)	7						GCCGCTCCACGTCTCCACAGG	0.473													9	131					0	0	1	0	0	A	99023868	G	A	99023868	3	1	143	1	0	0	0	0	1	0	0	0	5488	1145	40	1	449	1	FAM169B	15	99023868	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	17431428	99023868	3507524	61	6539											
UBC	7316	broad.mit.edu	37	chr17	21731352	21731352	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatccagaaggagtcgaccCtgcacctggtcctgcgtctg	8	8	11	14	2	1	1	0	0	1	1	4	3	3	2	4	2	2	1	4	2	1	0			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr17:21731352C>A	uc002gyy.3	+	1	779	c.654C>A	c.(652-654)ccC>ccA	p.P218P				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	0	Ubiquitin-like 3.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GGAGTCGACCCTGCACCTGGT	0.552													15	84					5.26018e-13	5.98075e-13	1	1	0	A	21731352	C	A	21731352	2	1	143	1	0	0	0	0	0	0	0	1	16839	696	24	5		5	UBC	17	21731352	Silent	SNP	C	TCGA-FG-7643-01A-11D-2086-08		21731352	59463858	62	6540											
KRT27	342574	broad.mit.edu	37	chr17	38933849	38933849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcaaggagctgctcatactCgagcttctggccctcggtct	6	11	11	13	2	4	0	2	0	2	0	6	2	4	1	1	3	4	3	1	3	2	2			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr17:38933849C>T	uc002hvg.3	-	5	1149	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	Homo sapiens keratin 27 (KRT27), mRNA.	370	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TGCTCATACTCGAGCTTCTGG	0.547													31	220					0	0	1	0	0	T	38933849	C	T	38933849	3	4	143	1	0	0	0	0	1	0	0	0	8464	893	31	2	283	2	KRT27	17	38933849	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	17202497	38933849	42261361	63	6541											
MAP3K3	4215	broad.mit.edu	37	chr17	61765935	61765935	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcccagagcttccctgaCaacagacaggaatactcagg	12	6	10	13	1	1	3	1	1	0	2	2	4	2	4	2	2	4	1	2	2	3	2			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr17:61765935C>T	uc002jbg.3	+	8	1078	c.759C>T	c.(757-759)gaC>gaT	p.D253D	MAP3K3_uc002jbe.3_Silent_p.D284D|MAP3K3_uc002jbf.3_Silent_p.D284D|MAP3K3_uc002jbh.3_Silent_p.D280D|MAP3K3_uc010wpo.2_Silent_p.D168D|MAP3K3_uc010wpp.2_Silent_p.D249D	NM_002401	NP_002392	Q99759	M3K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 3 (MAP3K3), transcript variant 2, mRNA.	253					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						GCTTCCCTGACAACAGACAGG	0.537													10	70					0	0	1	0	0	T	61765935	C	T	61765935	2	4	143	1	0	0	0	0	0	0	0	1	9251	477	17	3		3	MAP3K3	17	61765935	Silent	SNP	C	TCGA-FG-7643-01A-11D-2086-08	22832086	61765935	19429275	64	6542											
CD300E	342510	broad.mit.edu	37	chr17	72613303	72613303	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgagggatcgcgtgaccaTgaatccaggacccacactgt	10	7	11	13	3	0	2	0	2	0	0	3	5	2	4	4	2	0	0	4	2	1	0			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr17:72613303T>C	uc002jlb.2	-	1	479	c.342A>G	c.(340-342)tcA>tcG	p.S114S		NM_181449	NP_852114	Q496F6	CLM2_HUMAN	Homo sapiens CD300e molecule (CD300E), mRNA.	114	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity	p.S114L(1)		breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CGCGTGACCATGAATCCAGGA	0.547													6	163					0	0	1	0	0	C	72613303	T	C	72613303	2	2	143	1	0	0	0	0	0	0	0	1	2998	1451	51	3		3	CD300E	17	72613303	Silent	SNP	T	TCGA-FG-7643-01A-11D-2086-08	10847368	72613303	8581907	65	6543											
NOTCH3	4854	broad.mit.edu	37	chr19	15271630	15271630	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagtggctgggctaggcGtggattcggaccagtctgag	6	9	18	8	2	1	1	0	1	1	0	2	3	1	3	1	6	0	3	1	6	1	2	rs148716935		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr19:15271630G>A	uc002nan.3	-	32	6885	c.6809C>T	c.(6808-6810)aCg>aTg	p.T2270M		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	2270					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGGGCTAGGCGTGGATTCGGA	0.667													6	109					0	0	1	0	0	A	15271630	G	A	15271630	3	1	143	1	0	0	0	0	1	0	0	0	10550	1145	40	1	160	1	NOTCH3	19	15271630	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08		15271630	43857353	66	6544											
ATP4A	495	broad.mit.edu	37	chr19	36045932	36045932	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctctgggatgttcttggtCaatgtgtaggcaatagactt	9	14	12	6	0	3	1	1	0	2	1	3	2	3	2	0	3	1	4	0	3	4	5			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr19:36045932C>T	uc002oal.1	-	15	2402	c.2373G>A	c.(2371-2373)ttG>ttA	p.L791L	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	791					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TGTTCTTGGTCAATGTGTAGG	0.572													6	104					0	0	1	0	0	T	36045932	C	T	36045932	2	4	143	1	0	0	0	0	0	0	0	1	1145	825	29	3		3	ATP4A	19	36045932	Silent	SNP	C	TCGA-FG-7643-01A-11D-2086-08	20774302	36045932	23083051	67	6545											
ZNF831	128611	broad.mit.edu	37	chr20	57766794	57766794	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaggggatgcacgaaggCgcctcggagagacccctttc	8	6	14	13	3	0	1	0	0	0	1	2	5	0	3	4	4	2	1	4	4	1	1			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr20:57766794C>T	uc002yan.3	+	0	720	c.720C>T	c.(718-720)ggC>ggT	p.G240G		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	240						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGCACGAAGGCGCCTCGGAGA	0.687													10	41					0	0	1	0	0	T	57766794	C	T	57766794	2	4	143	1	0	0	0	0	0	0	0	1	18182	755	27	1		1	ZNF831	20	57766794	Silent	SNP	C	TCGA-FG-7643-01A-11D-2086-08		57766794	5258726	68	6546											
CYYR1	116159	broad.mit.edu	37	chr21	27852702	27852702	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcaatcccagcaatgacccCcatgataaatactattccaa	15	8	5	13	0	0	2	0	2	0	0	2	2	2	2	4	1	2	2	4	1	7	4			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr21:27852702C>A	uc002yme.3	-	2	545	c.223G>T	c.(223-225)Ggg>Tgg	p.G75W	CYYR1_uc002ymd.3_Missense_Mutation_p.G75W|CYYR1_uc011ack.2_Non-coding_Transcript	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN	Homo sapiens cysteine/tyrosine-rich 1 (CYYR1), mRNA.	75						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GCAATGACCCCCATGATAAAT	0.463													7	147					2.52707e-12	2.83441e-12	1	1	0	A	27852702	C	A	27852702	3	1	143	1	0	0	0	0	1	0	0	0	4211	623	22	5	249	5	CYYR1	21	27852702	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08		27852702	20277193	69	6547											
PRDM15	63977	broad.mit.edu	37	chr21	43259793	43259794	+	Frame_Shift_Del	DEL	TC	TC	-																															gctttggacactttgggtttTctcccccttcgaggcttttt																										TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr21:43259793_43259794delTC	uc002yzq.1	-	13	2018_2019	c.1907_1908delGA	c.(1906-1908)agafs	p.R636fs	PRDM15_uc002yzo.3_Frame_Shift_Del_p.R307fs|PRDM15_uc002yzp.3_Frame_Shift_Del_p.R307fs|PRDM15_uc002yzr.1_Frame_Shift_Del_p.R307fs	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	636					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CTTTGGGTTTTCTCCCCCTTCG	0.599													17	394	---	---	---	---						-	43259794	TC	-	43259793	7	5	143	1	0	1	0	1	0	0	0	0	12456	1780	62	0	2687	0	PRDM15	21	43259793	Frame_Shift_Del	DEL	TC	TCGA-FG-7643-01A-11D-2086-08	15407091	43259793	4870102	70	6548											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	6	9	9	17	2	2	0	0	0	2	0	6	2	4	2	5	2	2	0	5	2	2	1	rs145580328	byFrequency	TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chrX:37028425A>G	uc004ddl.2	+	0	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	648								p.N648D(11)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													5	147					0	0	1	0	0	G	37028425	A	G	37028425	3	3	143	1	0	0	0	0	1	0	0	0	5571	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-FG-7643-01A-11D-2086-08		37028425	118242135	71	6549											
GIGYF1	64599	broad.mit.edu	37	chr7	100280978	100280980	+	In_Frame_Del	DEL	CTG	CTG	-																															tgccgccgcttctgctcctcCtgctgctgctggcggcgctt																										TCGA-FG-8181-01A-11D-2253-08	TCGA-FG-8181-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e783a0c-6e1a-42a7-9356-19a047593814	e2aa9ddd-903d-4888-95a7-63467ac504af	g.chr7:100280978_100280980delCTG	uc003uwg.1	-	17	3149_3151	c.2140_2142delCAG	c.(2140-2142)cagdel	p.Q714del		NM_022574	NP_072096	O75420	PERQ1_HUMAN	Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA.	714										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCTGCTCCTCCTGCTGCTGCTGG	0.65													8	269	---	---	---	---						-	100280980	CTG	-	100280978	7	5	144	1	0	1	0	1	0	0	0	0	6377	680	24	0	993	0	GIGYF1	7	100280978	In_Frame_Del	DEL	CTG	TCGA-FG-8181-01A-11D-2253-08		100280978	58857685	1	6550											
KLHL34	257240	broad.mit.edu	37	chrX	21674920	21674922	+	In_Frame_Del	DEL	CTC	CTC	-																															acgttctgggtgagctcccaCtcctcctcctcctcctcttc																										TCGA-FG-8181-01A-11D-2253-08	TCGA-FG-8181-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e783a0c-6e1a-42a7-9356-19a047593814	e2aa9ddd-903d-4888-95a7-63467ac504af	g.chrX:21674920_21674922delCTC	uc004czz.1	-	0	1527_1529	c.985_987delGAG	c.(985-987)gagdel	p.E329del		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	Homo sapiens kelch-like 34 (Drosophila) (KLHL34), mRNA.	329	Glu-rich.									cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						TGAGCTCCCActcctcctcctcc	0.65													3	6	---	---	---	---						-	21674922	CTC	-	21674920	7	5	144	1	0	1	0	1	0	0	0	0	8387	564	20	0	951	0	KLHL34	23	21674920	In_Frame_Del	DEL	CTC	TCGA-FG-8181-01A-11D-2253-08		21674920	133595640	2	6551											
TNFRSF9	3604	broad.mit.edu	37	chr1	7998823	7998823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaggtcctttgtccacctgCgctggagaaactatttggag	9	11	11	10	1	0	1	0	0	0	1	2	3	2	2	3	3	2	1	3	3	2	3	rs9657963	byFrequency	TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr1:7998823C>T	uc001aot.3	-	3	427	c.166G>A	c.(166-168)Gca>Aca	p.A56T		NM_001561	NP_001552	Q07011	TNR9_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA.	56			A -> T (in dbSNP:rs9657963).		induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	p.A56V(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCCACCTGCGCTGGAGAAA	0.408													16	132					0	0	1	0	0	T	7998823	C	T	7998823	3	4	145	1	0	0	0	0	1	0	0	0	16297	768	27	1	625	1	TNFRSF9	1	7998823	Missense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08		7998823	241251798	1	6552											
PADI3	51702	broad.mit.edu	37	chr1	17586174	17586174	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggccgggagcgtgcagacaCcaggcggtggcgctttgacg	6	5	19	11	5	0	2	0	1	0	1	0	3	0	3	2	5	2	2	2	5	0	1			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr1:17586174C>A	uc001bai.3	+	1	234	c.194C>A	c.(193-195)aCc>aAc	p.T65N		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	65					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CGTGCAGACACCAGGCGGTGG	0.592													4	58					0.014758	0.0157205	1	1	0	A	17586174	C	A	17586174	3	1	145	1	0	0	0	0	1	0	0	0	11379	507	18	5	200	5	PADI3	1	17586174	Missense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08	9587351	17586174	231664447	2	6553											
DNAJC6	9829	broad.mit.edu	37	chr1	65858364	65858364	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttctctccgccagcggcTcctcccaccaattctgaact	7	10	6	18	2	2	1	0	1	2	0	6	1	5	1	5	1	3	2	5	1	2	2			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr1:65858364T>G	uc001dce.1	+	11	1920	c.1719T>G	c.(1717-1719)gcT>gcG	p.A573A	DNAJC6_uc001dcc.1_Silent_p.A547A|DNAJC6_uc001dcd.1_Silent_p.A516A|DNAJC6_uc010opc.1_Silent_p.A503A	NM_014787	NP_055602	O75061	AUXI_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 6 (DNAJC6), mRNA.	516	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	SH3 domain binding|heat shock protein binding|protein tyrosine phosphatase activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CGCCAGCGGCTCCTCCCACCA	0.582													5	44					0	0	1	0	0	G	65858364	T	G	65858364	2	3	145	1	0	0	0	0	0	0	0	1	4653	1538	54	5		5	DNAJC6	1	65858364	Silent	SNP	T	TCGA-FG-8182-01A-11D-2253-08	48272190	65858364	183392257	3	6554											
PRG4	10216	broad.mit.edu	37	chr1	186276306	186276306	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaagagcctgcacccacTgcccccaagaagcctgcccc	10	3	7	21	0	0	2	0	0	0	2	0	2	0	2	8	0	5	1	8	0	3	0	rs78867190	byFrequency	TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr1:186276306T>C	uc001gru.4	+	6	1506	c.1455T>C	c.(1453-1455)acT>acC	p.T485T	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Silent_p.T444T|PRG4_uc009wyl.3_Silent_p.T392T|PRG4_uc009wym.3_Silent_p.T351T|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	485	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T485T(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTGCACCCACTGCCCCCAAGA	0.652													5	93					0	0	1	0	0	C	186276306	T	C	186276306	2	2	145	1	0	0	0	0	0	0	0	1	12481	1567	55	4		4	PRG4	1	186276306	Silent	SNP	T	TCGA-FG-8182-01A-11D-2253-08	120417942	186276306	62974315	4	6555											
MYO3B	140469	broad.mit.edu	37	chr2	171509614	171509614	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatcctcaaaaggagacTcttttgctcaacattaaatt	13	14	4	10	0	4	1	3	0	1	1	5	2	5	1	1	1	2	1	1	1	5	5			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr2:171509614T>C	uc002ufy.3	+	34	4152	c.4009T>C	c.(4009-4011)Tct>Cct	p.S1337P	MYO3B_uc002ufz.3_Missense_Mutation_p.S1310P|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript|AK127400_uc002ugc.1_Intron	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	1337					response to stimulus|visual perception	cytoplasm|myosin complex	ATP binding|actin binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AAAAGGAGACTCTTTTGCTCA	0.418													6	56					0	0	1	0	0	C	171509614	T	C	171509614	3	2	145	1	0	0	0	0	1	0	0	0	10077	1551	54	4	4273	4	MYO3B	2	171509614	Missense_Mutation	SNP	T	TCGA-FG-8182-01A-11D-2253-08		171509614	71689759	5	6556											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								25	44					0	0	1	0	0	T	209113112	C	T	209113112	3	4	145	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08	37603498	209113112	34086261	6	6557											
RPL37A	6168	broad.mit.edu	37	chr2	217364056	217364056	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgctatggggcctccctcCggaaaatggtgaagaaaatt	11	8	11	11	2	0	2	0	1	0	1	2	3	2	3	4	4	0	1	4	4	6	2			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr2:217364056C>T	uc002vgf.3	+	1	145	c.67C>T	c.(67-69)Cgg>Tgg	p.R23W	RPL37A_uc002vgg.3_Missense_Mutation_p.R23W	NM_000998	NP_000989	P61513	RL37A_HUMAN	Homo sapiens ribosomal protein L37a (RPL37A), mRNA.	23					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	metal ion binding|protein binding|structural constituent of ribosome			NS(1)|ovary(1)	2		Renal(323;0.0458)		Epithelial(149;3.51e-06)|all cancers(144;0.000249)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCCTCCCTCCGGAAAATGGT	0.502													7	77					0	0	1	0	0	T	217364056	C	T	217364056	3	4	145	1	0	0	0	0	1	0	0	0	13590	643	23	2	73	2	RPL37A	2	217364056	Missense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08	8250944	217364056	25835317	7	6558											
IGFBP2	3485	broad.mit.edu	37	chr2	217525369	217525369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggggaggcagtgctggcCggaagcccctcaagtcgggt	6	5	19	11	3	1	0	1	0	0	0	2	2	1	2	3	6	2	2	3	6	2	0			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr2:217525369C>T	uc021vwn.1	+	1	652	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W	IGFBP2_uc010zju.2_Missense_Mutation_p.R178W	NM_000597	NP_000588	P18065	IBP2_HUMAN	Homo sapiens insulin-like growth factor binding protein 2, 36kDa (IGFBP2), mRNA.	178					positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding			endometrium(2)|large_intestine(1)|lung(2)	5		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		CAGTGCTGGCCGGAAGCCCCT	0.612													10	53					0	0	1	0	0	T	217525369	C	T	217525369	3	4	145	1	0	0	0	0	1	0	0	0	7579	643	23	2	538	2	IGFBP2	2	217525369	Missense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08	161313	217525369	25674004	8	6559											
COL6A3	1293	broad.mit.edu	37	chr2	238277572	238277572	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgccagtgttcagtggggAcccccctctgagcctcaggc	5	9	12	15	0	3	1	2	1	1	0	3	2	3	2	5	3	2	1	5	3	0	2			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr2:238277572A>G	uc002vwl.2	-	9	4819	c.4534T>C	c.(4534-4536)Tcc>Ccc	p.S1512P	COL6A3_uc002vwo.2_Missense_Mutation_p.S1306P|COL6A3_uc010znj.1_Missense_Mutation_p.S905P	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1512	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTCAGTGGGGACCCCCCTCTG	0.562													4	49					0	0	1	0	0	G	238277572	A	G	238277572	3	3	145	1	0	0	0	0	1	0	0	0	3701	275	10	3	5139	3	COL6A3	2	238277572	Missense_Mutation	SNP	A	TCGA-FG-8182-01A-11D-2253-08	20752203	238277572	4921801	9	6560											
ADAMTS9	56999	broad.mit.edu	37	chr3	64526873	64526873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtcatcgcgccggctccCgttatagggacattctgttg	6	11	12	12	4	2	0	1	0	1	0	4	1	3	1	2	2	0	4	2	2	2	4			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr3:64526873C>T	uc003dmg.3	-	35	5451	c.5419G>A	c.(5419-5421)Ggg>Agg	p.G1807R	ADAMTS9_uc011bfo.2_Missense_Mutation_p.G1779R|ADAMTS9_uc011bfp.1_Missense_Mutation_p.G718R	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1807	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CGCCGGCTCCCGTTATAGGGA	0.473													21	101					0	0	1	0	0	T	64526873	C	T	64526873	3	4	145	1	0	0	0	0	1	0	0	0	273	652	23	2	404	2	ADAMTS9	3	64526873	Missense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08		64526873	133495557	10	6561											
KIAA1430	57587	broad.mit.edu	37	chr4	186085257	186085257	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttgagatagcccatattgCgatgatagtccatcagttgt	11	13	10	7	1	1	2	1	2	0	1	2	4	2	2	2	0	2	2	2	0	3	6			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr4:186085257C>A	uc003ixf.4	-	3	1544	c.1397G>T	c.(1396-1398)cGc>cTc	p.R466L		NM_020827	NP_065878	Q9P2B7	K1430_HUMAN	Homo sapiens KIAA1430 (KIAA1430), mRNA.	466										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		GCCCATATTGCGATGATAGTC	0.383													3	64					1	1	1	1	0	A	186085257	C	A	186085257	3	1	145	1	0	0	0	0	1	0	0	0	8232	768	27	5	209	5	KIAA1430	4	186085257	Missense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08		186085257	5069019	11	6562											
BRD8	10902	broad.mit.edu	37	chr5	137501597	137501597	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaagacacagcaatatccaTcttctcagccagatctaatt	14	11	5	11	0	3	2	1	0	3	2	5	2	4	2	2	0	2	2	2	0	4	5			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr5:137501597T>C	uc003lcf.1	-	10	1253	c.1198A>G	c.(1198-1200)Atg>Gtg	p.M400V	BRD8_uc011cyl.2_Missense_Mutation_p.M179V|BRD8_uc021yea.1_Missense_Mutation_p.M290V|BRD8_uc003lcg.3_Missense_Mutation_p.M473V|BRD8_uc003lci.3_Missense_Mutation_p.M403V|BRD8_uc011cym.2_Missense_Mutation_p.M384V|BRD8_uc011cyn.1_Missense_Mutation_p.M359V	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA.	400					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	NuA4 histone acetyltransferase complex|mitochondrion	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCAATATCCATCTTCTCAGCC	0.458													6	52					0	0	1	0	0	C	137501597	T	C	137501597	3	2	145	1	0	0	0	0	1	0	0	0	1506	1435	50	3	2641	3	BRD8	5	137501597	Missense_Mutation	SNP	T	TCGA-FG-8182-01A-11D-2253-08		137501597	43413663	12	6563											
CD109	135228	broad.mit.edu	37	chr6	74491008	74491008	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactctgggtattgacagaTgcaaacctcacgaaggatta	13	9	11	8	1	2	2	1	1	1	1	2	5	2	4	1	3	2	2	1	3	4	3			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr6:74491008T>C	uc003php.3	+	16	2360	c.1929T>C	c.(1927-1929)gaT>gaC	p.D643D	CD109_uc003phq.3_Silent_p.D643D|CD109_uc010kba.3_Silent_p.D566D	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA.	643	Bait region (approximate) (By similarity).					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.T642K(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TATTGACAGATGCAAACCTCA	0.323													5	33					0	0	1	0	0	C	74491008	T	C	74491008	2	2	145	1	0	0	0	0	0	0	0	1	2963	1461	51	3		3	CD109	6	74491008	Silent	SNP	T	TCGA-FG-8182-01A-11D-2253-08		74491008	96624059	13	6564											
MDN1	23195	broad.mit.edu	37	chr6	90397120	90397120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcaaatcaagatgtttcCgcaaagacaaagctcgactt	15	10	7	9	2	2	3	2	1	0	2	4	4	3	3	1	0	1	3	1	0	4	2			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr6:90397120C>T	uc003pnn.1	-	67	11509	c.11393G>A	c.(11392-11394)cGg>cAg	p.R3798Q		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	3798					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAGATGTTTCCGCAAAGACAA	0.403													7	50					0	0	1	0	0	T	90397120	C	T	90397120	3	4	145	1	0	0	0	0	1	0	0	0	9415	652	23	2	5537	2	MDN1	6	90397120	Missense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08	15906112	90397120	80717947	14	6565											
HIVEP2	3097	broad.mit.edu	37	chr6	143095693	143095693	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccagaaccaaacagttgTgctgatgctgtgtttccgat	9	13	9	10	1	0	2	0	1	0	1	2	3	2	2	3	0	4	4	3	0	2	3			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr6:143095693T>C	uc003qjd.3	-	4	926	c.183A>G	c.(181-183)gcA>gcG	p.A61A		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	61					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CAAACAGTTGTGCTGATGCTG	0.498													27	187					0	0	1	0	0	C	143095693	T	C	143095693	2	2	145	1	0	0	0	0	0	0	0	1	7187	1683	59	3		3	HIVEP2	6	143095693	Silent	SNP	T	TCGA-FG-8182-01A-11D-2253-08	52698573	143095693	28019374	15	6566											
UNC93A	54346	broad.mit.edu	37	chr6	167728856	167728856	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgtatgggcttgtggagtgCgtggagtccaagaacccgat	8	9	16	8	3	0	1	0	0	0	1	1	4	1	3	2	3	2	2	2	3	3	2			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr6:167728856C>T	uc003qvq.3	+	7	1465	c.1290C>T	c.(1288-1290)tgC>tgT	p.C430C	UNC93A_uc003qvr.3_Silent_p.C388C	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.	430						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TTGTGGAGTGCGTGGAGTCCA	0.542													27	323					0	0	1	0	0	T	167728856	C	T	167728856	2	4	145	1	0	0	0	0	0	0	0	1	16993	776	27	1		1	UNC93A	6	167728856	Silent	SNP	C	TCGA-FG-8182-01A-11D-2253-08	24633163	167728856	3386211	16	6567											
FBXL18	80028	broad.mit.edu	37	chr7	5540405	5540405	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggctcgttgcggggcaTggcggaggagaagttggacc	6	6	21	8	4	0	1	0	0	0	1	1	4	0	3	1	8	1	4	1	8	1	2			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr7:5540405T>C	uc003soo.2	-	2	1589	c.1495A>G	c.(1495-1497)Atg>Gtg	p.M499V	FBXL18_uc003son.4_Missense_Mutation_p.M499V	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	499									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		TTGCGGGGCATGGCGGAGGAG	0.672													16	63					0	0	1	0	0	C	5540405	T	C	5540405	3	2	145	1	0	0	0	0	1	0	0	0	5714	1464	51	3	673	3	FBXL18	7	5540405	Missense_Mutation	SNP	T	TCGA-FG-8182-01A-11D-2253-08		5540405	153598258	17	6568											
TRPV6	55503	broad.mit.edu	37	chr7	142575445	142575445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggctcaaagaccagctccGgggcagcctccatcagcacc	9	5	11	16	1	2	1	2	0	0	1	4	1	4	1	5	3	3	4	5	3	1	0			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr7:142575445G>A	uc003wbx.2	-	2	537	c.308C>T	c.(307-309)cCg>cTg	p.P103L	TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_5'UTR	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	103	Interaction with calmodulin (By similarity).				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GACCAGCTCCGGGGCAGCCTC	0.577													11	168					0	0	1	0	0	A	142575445	G	A	142575445	3	1	145	1	0	0	0	0	1	0	0	0	16597	1116	39	2	1921	2	TRPV6	7	142575445	Missense_Mutation	SNP	G	TCGA-FG-8182-01A-11D-2253-08	137035040	142575445	16563218	18	6569											
CNTLN	54875	broad.mit.edu	37	chr9	17236520	17236520	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgacctgctaaatgacctGgagaaattgaggaagcagga	15	7	12	7	0	0	4	0	3	0	1	0	7	0	6	2	3	2	2	2	3	4	2			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr9:17236520G>A	uc003zmz.2	+	4	809	c.783G>A	c.(781-783)ctG>ctA	p.L261L	CNTLN_uc003zmx.4_Silent_p.L261L|CNTLN_uc003zmy.3_Silent_p.L261L|CNTLN_uc010mio.3_5'UTR	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.	261						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TAAATGACCTGGAGAAATTGA	0.368													9	44					0	0	1	0	0	A	17236520	G	A	17236520	2	1	145	1	0	0	0	0	0	0	0	1	3639	1335	47	3		3	CNTLN	9	17236520	Silent	SNP	G	TCGA-FG-8182-01A-11D-2253-08		17236520	123976911	19	6570											
TLR4	7099	broad.mit.edu	37	chr9	120475609	120475609	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gattttgggacaaccagcctAaagtatttagatctgagctt	12	13	9	7	0	1	2	0	1	1	1	1	4	1	3	2	1	3	2	2	1	5	7			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr9:120475609A>G	uc004bjz.3	+	2	1494	c.1203A>G	c.(1201-1203)ctA>ctG	p.L401L	TLR4_uc004bkb.3_Silent_p.L201L|TLR4_uc004bka.3_Silent_p.L361L	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	401					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CAACCAGCCTAAAGTATTTAG	0.388													3	19					0	0	1	0	0	G	120475609	A	G	120475609	2	3	145	1	0	0	0	0	0	0	0	1	15950	349	13	3		3	TLR4	9	120475609	Silent	SNP	A	TCGA-FG-8182-01A-11D-2253-08	103239089	120475609	20737822	20	6571											
PPRC1	23082	broad.mit.edu	37	chr10	103906760	103906760	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaaacctgtcttgtccttGggcccagctgcccctccgcc	5	10	8	18	1	2	0	1	0	1	0	4	0	4	0	7	1	3	1	7	1	1	2			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr10:103906760G>C	uc001kum.3	+	8	4050	c.4011G>C	c.(4009-4011)ttG>ttC	p.L1337F	PPRC1_uc001kun.3_Missense_Mutation_p.L1217F|PPRC1_uc010qqj.2_Intron|PPRC1_uc009xxa.3_Intron	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	1337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TCTTGTCCTTGGGCCCAGCTG	0.607													3	71					0	0	1	0	0	C	103906760	G	C	103906760	3	2	145	1	0	0	0	0	1	0	0	0	12410	1339	47	5	4045	5	PPRC1	10	103906760	Missense_Mutation	SNP	G	TCGA-FG-8182-01A-11D-2253-08		103906760	31627987	21	6572											
FERMT3	83706	broad.mit.edu	37	chr11	63988497	63988497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcccgcagctcaccccaCggatcctggaagcccaccag	8	5	10	18	2	1	0	1	0	0	0	3	2	3	2	6	3	2	2	6	3	1	0			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr11:63988497C>T	uc001nyl.2	+	12	1716	c.1567C>T	c.(1567-1569)Cgg>Tgg	p.R523W	FERMT3_uc001nym.2_Missense_Mutation_p.R519W	NM_178443	NP_848537	Q86UX7	URP2_HUMAN	Homo sapiens fermitin family member 3 (FERMT3), transcript variant URP2LF, mRNA.	523	FERM.				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	p.R523Q(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GCTCACCCCACGGATCCTGGA	0.652													7	104					0	0	1	0	0	T	63988497	C	T	63988497	3	4	145	1	0	0	0	0	1	0	0	0	5819	527	19	1	1613	1	FERMT3	11	63988497	Missense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08		63988497	71018019	22	6573											
EXPH5	23086	broad.mit.edu	37	chr11	108381318	108381318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcagggaacagtgggttgCactccactgtgccaagagat	10	8	13	10	0	1	1	1	0	0	1	2	3	2	2	2	2	3	3	2	2	2	1			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr11:108381318C>T	uc001pkk.3	-	5	5027	c.4916G>A	c.(4915-4917)tGc>tAc	p.C1639Y	EXPH5_uc010rvz.2_Missense_Mutation_p.C1483Y|EXPH5_uc010rvy.2_Missense_Mutation_p.C1451Y	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1639					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CAGTGGGTTGCACTCCACTGT	0.483													48	37					0	0	1	0	0	T	108381318	C	T	108381318	3	4	145	1	0	0	0	0	1	0	0	0	5322	710	25	3	1057	3	EXPH5	11	108381318	Missense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08	44392821	108381318	26625198	23	6574											
LRIG3	121227	broad.mit.edu	37	chr12	59276787	59276787	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccattttagctggcaatcGcacaaaaggcttgatgtatt	12	12	9	8	1	0	1	0	1	0	0	1	1	0	1	1	2	2	5	1	2	5	5			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr12:59276787G>A	uc001sqr.3	-	11	1590	c.1344C>T	c.(1342-1344)tgC>tgT	p.C448C	LRIG3_uc009zqh.3_Silent_p.C388C|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	448	LRRCT.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GCTGGCAATCGCACAAAAGGC	0.403			T	ROS1	NSCLC								3	57					0	0	1	0	0	A	59276787	G	A	59276787	2	1	145	1	0	0	0	0	0	0	0	1	8946	1079	38	1		1	LRIG3	12	59276787	Silent	SNP	G	TCGA-FG-8182-01A-11D-2253-08		59276787	74575108	24	6575											
CUX2	23316	broad.mit.edu	37	chr12	111758235	111758237	+	In_Frame_Del	DEL	TCC	TCC	-																															cctccgtgtcgccctcgctgTcctcctcctcctcctctggc																										TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr12:111758235_111758237delTCC	uc001tsa.2	+	16	2576_2578	c.2422_2424delTCC	c.(2422-2424)tccdel	p.S813del		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	813	Poly-Ser.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCCCTCGCTGTCCTCCTCCTCCT	0.749													8	105	---	---	---	---						-	111758237	TCC	-	111758235	7	5	145	1	0	1	0	1	0	0	0	0	4065	1667	58	0	2488	0	CUX2	12	111758235	In_Frame_Del	DEL	TCC	TCGA-FG-8182-01A-11D-2253-08	52481448	111758235	22093660	25	6576											
FLRT2	23768	broad.mit.edu	37	chr14	86089274	86089274	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttcaggagcgcatagtcagCggtgagaagcaacacctgag	12	6	14	9	2	2	2	2	2	0	1	2	4	2	3	1	2	4	3	1	2	3	2	rs146568257	byFrequency	TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr14:86089274C>T	uc021rxf.1	+	0	1416	c.1416C>T	c.(1414-1416)agC>agT	p.S472S	FLRT2_uc001xvr.3_Silent_p.S472S|FLRT2_uc010atd.3_Silent_p.S472S	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	472	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GCATAGTCAGCGGTGAGAAGC	0.517													40	90					0	0	1	0	0	T	86089274	C	T	86089274	2	4	145	1	0	0	0	0	0	0	0	1	5939	767	27	1		1	FLRT2	14	86089274	Silent	SNP	C	TCGA-FG-8182-01A-11D-2253-08		86089274	21260266	26	6577											
TCF12	6938	broad.mit.edu	37	chr15	57565437	57565438	+	Frame_Shift_Ins	INS	-	-	TTGAC																															caagccgtggcagtcatcctINStagtctagaacagcaagtca																										TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr15:57565437_57565438insTTGAC	uc002aec.3	+	17	2167_2168	c.1883_1884insTTGAC	c.(1882-1884)cttfs	p.L628fs	TCF12_uc010ugm.1_Intron|TCF12_uc010ugn.1_Frame_Shift_Ins_p.L648fs|TCF12_uc002aea.3_Frame_Shift_Ins_p.L652fs|TCF12_uc010bfs.3_Frame_Shift_Ins_p.L49fs|TCF12_uc002aeb.3_Frame_Shift_Ins_p.L652fs|TCF12_uc002aed.3_Frame_Shift_Ins_p.L628fs|TCF12_uc010ugo.2_Frame_Shift_Ins_p.L392fs|TCF12_uc002aee.3_Frame_Shift_Ins_p.L458fs|TCF12_uc010bft.3_Frame_Shift_Ins_p.L482fs|TCF12_uc010ugp.2_Frame_Shift_Ins_p.L285fs|TCF12_uc010ugq.2_Frame_Shift_Ins_p.L262fs	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	628	Helix-loop-helix motif.				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.M627L(1)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GCAGTCATCCTTAGTCTAGAAC	0.441			T	TEC	extraskeletal myxoid chondrosarcoma								9	51	---	---	---	---						TTGAC	57565438	-	TTGAC	57565437	7	5	145	1	0	1	1	0	0	0	0	0	15684	1609	56	0	2098	0	TCF12	15	57565437	Frame_Shift_Ins	INS	-	TCGA-FG-8182-01A-11D-2253-08		57565437	44965955	27	6578											
TP53	7157	broad.mit.edu	37	chr17	7574012	7574012	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcagctctcggaacatctCgaagcgctcacgcccacgga	10	7	9	15	5	4	0	2	0	2	0	6	3	4	2	1	2	3	2	1	2	2	1	rs17882252		TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr17:7574012C>A	uc002gim.2	-	9	1209	c.1015G>T	c.(1015-1017)Gag>Tag	p.E339*	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Intron|TP53_uc010cne.1_Intron|TP53_uc010cng.1_3'UTR|TP53_uc010cnf.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.E207*|TP53_uc010cni.1_3'UTR|TP53_uc010cnh.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.E339*|DL476313_uc021tpe.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	339	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		E -> K (in a sporadic cancer; somatic mutation; dbSNP:rs17882252).|E -> Q (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E339*(26)|p.0?(8)|p.E339fs*8(4)|p.E339Q(2)|p.F338fs*9(2)|p.F338fs*6(2)|p.F338_E339>L(2)|p.E339fs*13(2)|p.E339K(2)|p.F338I(1)|p.?(1)|p.F338fs*7(1)|p.I332fs*5(1)|p.F338F(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)		CGGAACATCTCGAAGCGCTCA	0.537		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)			9	40					7.03913e-09	7.83903e-09	1	1	0	A	7574012	C	A	7574012	4	1	145	1	0	0	0	0	0	1	0	0	16378	893	31	5	174	5	TP53	17	7574012	Nonsense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08		7574012	73621198	28	6579											
TP53	7157	broad.mit.edu	37	chr17	7579311	7579311	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcccctcagggcaactgaCcgtgcaagtcacagacttgg	10	6	11	14	1	2	2	2	1	0	1	2	2	2	2	3	2	3	2	3	2	2	1	rs68140816		TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr17:7579311C>T	uc002gim.2	-	4	569	c.375_splice	c.e4+1	p.T125_splice	TP53_uc002gig.1_Splice_Site_p.T125_splice|TP53_uc002gih.3_Splice_Site_p.T125_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Splice_Site_p.T125_splice|TP53_uc010cnh.1_Splice_Site_p.T125_splice|TP53_uc002gij.2_Splice_Site_p.T125_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Splice_Site_p.T86_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		GGGCAACTGACCGTGCAAGTC	0.532		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)			41	48					0	0	1	0	0	T	7579311	C	T	7579311	5	4	145	1	0	0	0	0	0	0	1	0	16378	521	18	3	926	3	TP53	17	7579311	Splice_Site	SNP	C	TCGA-FG-8182-01A-11D-2253-08	5299	7579311	73615899	29	6580											
CWC25	54883	broad.mit.edu	37	chr17	36958970	36958970	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cactggatgaacttcccatcCcgggagtccagcttctctag	8	10	9	14	1	1	1	0	1	1	0	5	3	4	3	3	2	2	1	3	2	2	3			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr17:36958970C>T	uc002hqu.3	-	8	1299	c.1146G>A	c.(1144-1146)cgG>cgA	p.R382R	CWC25_uc010wdv.2_Silent_p.R319R|CWC25_uc010wdw.1_Non-coding_Transcript|PIP4K2B_uc002hqs.3_5'Flank|PIP4K2B_uc021twj.1_5'Flank	NM_017748	NP_060218	Q9NXE8	CWC25_HUMAN	Homo sapiens CWC25 spliceosome-associated protein homolog (S. cerevisiae) (CWC25), mRNA.	382										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						ACTTCCCATCCCGGGAGTCCA	0.547													7	92					0	0	1	0	0	T	36958970	C	T	36958970	2	4	145	1	0	0	0	0	0	0	0	1	4069	610	22	3		3	CWC25	17	36958970	Silent	SNP	C	TCGA-FG-8182-01A-11D-2253-08	29379659	36958970	44236240	30	6581											
MUC16	94025	broad.mit.edu	37	chr19	8987333	8987333	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctcctcgctgaccaccccGgctagggcagggggaagaga	8	4	16	13	2	0	2	0	1	0	1	2	4	1	3	4	5	0	4	4	5	2	1			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr19:8987333G>A	uc002mkp.3	-	68	41957	c.41753_splice	c.e68-1	p.T13918_splice	MUC16_uc010dwi.3_Splice_Site|MUC16_uc010dwj.3_Splice_Site_p.T735_splice|MUC16_uc021uog.1_Splice_Site	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13921				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T13918T(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGACCACCCCGGCTAGGGCAG	0.597													13	95					0	0	1	0	0	A	8987333	G	A	8987333	5	1	145	1	0	0	0	0	0	0	1	0	9973	1130	39	2	1837	2	MUC16	19	8987333	Splice_Site	SNP	G	TCGA-FG-8182-01A-11D-2253-08		8987333	50141650	31	6582											
SERTAD1	29950	broad.mit.edu	37	chr19	40929409	40929411	+	In_Frame_Del	DEL	CTC	CTC	-																															tcgactgccagaggttccttCtcctcctcctcctcccgttt																										TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr19:40929409_40929411delCTC	uc002ont.4	-	1	202_204	c.43_45delGAG	c.(43-45)gagdel	p.E15del		NM_013376	NP_037508	Q9UHV2	SRTD1_HUMAN	Homo sapiens SERTA domain containing 1 (SERTAD1), mRNA.	15					positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGGTTCCTTCTCCTCCTCCTCC	0.557													7	133	---	---	---	---						-	40929411	CTC	-	40929409	7	5	145	1	0	1	0	1	0	0	0	0	14120	912	32	0	669	0	SERTAD1	19	40929409	In_Frame_Del	DEL	CTC	TCGA-FG-8182-01A-11D-2253-08	31942076	40929409	18199574	32	6583											
PSG8	440533	broad.mit.edu	37	chr19	43262370	43262370	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatcacaggttaagctcaCagcctccatggcctccctgg	9	8	10	14	0	2	0	2	0	0	0	4	1	4	1	4	4	2	2	4	4	1	1			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr19:43262370C>A	uc002ouo.2	-	2	591	c.493G>T	c.(493-495)Gtg>Ttg	p.V165L	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Non-coding_Transcript|PSG8_uc002ouh.3_Missense_Mutation_p.V165L|PSG8_uc010ein.3_Missense_Mutation_p.V43L|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	165	Ig-like C2-type 1.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GTTAAGCTCACAGCCTCCATG	0.537													18	223					2.4624e-09	2.80599e-09	1	1	0	A	43262370	C	A	43262370	3	1	145	1	0	0	0	0	1	0	0	0	12661	478	17	5	820	5	PSG8	19	43262370	Missense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08	2332961	43262370	15866613	33	6584											
ERCC1	2067	broad.mit.edu	37	chr19	45916941	45916941	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagagctcttactttctgAgggcccaggcctgggcataa	8	9	11	13	0	2	2	0	1	2	1	2	2	2	2	3	3	2	2	3	3	2	3			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr19:45916941A>T	uc002pbs.2	-	8	983	c.837T>A	c.(835-837)ccT>ccA	p.P279P	ERCC1_uc002pbt.2_Silent_p.P255P|ERCC1_uc002pbu.2_Silent_p.P207P|ERCC1_uc002pbv.3_Silent_p.P279P	NM_001983	NP_001974	P07992	ERCC1_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) (ERCC1), transcript variant 2, mRNA.	279					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		TTACTTTCTGAGGGCCCAGGC	0.522								Nucleotide excision repair (NER)					12	98					0	0	1	0	0	T	45916941	A	T	45916941	2	4	145	1	0	0	0	0	0	0	0	1	5212	291	11	5		5	ERCC1	19	45916941	Silent	SNP	A	TCGA-FG-8182-01A-11D-2253-08	2654571	45916941	13212042	34	6585											
LILRA1	11024	broad.mit.edu	37	chr19	55112237	55112237	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcttggtcctggtggtcctCgggattctgctatttgaggc	3	14	15	9	1	1	1	0	1	1	0	4	2	3	2	2	6	1	2	2	6	1	4			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr19:55112237C>T	uc002qgh.1	+	9	1607	c.1425C>T	c.(1423-1425)ctC>ctT	p.L475L		NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	475					cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGGTGGTCCTCGGGATTCTGC	0.562													6	69					0	0	1	0	0	T	55112237	C	T	55112237	2	4	145	1	0	0	0	0	0	0	0	1	8784	871	31	2		2	LILRA1	19	55112237	Silent	SNP	C	TCGA-FG-8182-01A-11D-2253-08	9195296	55112237	4016746	35	6586											
C20orf26	26074	broad.mit.edu	37	chr20	20123549	20123549	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccaaaaaatagtcgaggAgttgcaggaacctgtctctc	12	10	9	10	1	1	0	0	0	1	0	5	3	2	2	2	2	2	2	2	2	5	3			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr20:20123549A>T	uc002wru.3	+	8	1022	c.908A>T	c.(907-909)gAg>gTg	p.E303V	C20orf26_uc010gcw.2_Missense_Mutation_p.E257V|C20orf26_uc010zse.2_Missense_Mutation_p.E303V|C20orf26_uc010zsf.1_Missense_Mutation_p.E303V	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	303										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ATAGTCGAGGAGTTGCAGGAA	0.488													4	13					0	0	1	0	0	T	20123549	A	T	20123549	3	4	145	1	0	0	0	0	1	0	0	0	2106	304	11	5	938	5	C20orf26	20	20123549	Missense_Mutation	SNP	A	TCGA-FG-8182-01A-11D-2253-08		20123549	42901971	36	6587											
ZNF217	7764	broad.mit.edu	37	chr20	52192452	52192452	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggtaacagtgatgtgaTgcctctgaccatatggtact	9	12	11	9	1	1	3	0	3	1	0	1	3	1	3	2	2	4	2	2	2	3	3			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr20:52192452T>C	uc002xwq.4	-	2	3193	c.2851A>G	c.(2851-2853)Atc>Gtc	p.I951V	ZNF217_uc010gij.1_Missense_Mutation_p.I943V	NM_006526	NP_006517	O75362	ZN217_HUMAN	Homo sapiens zinc finger protein 217 (ZNF217), mRNA.	951					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			AGTGATGTGATGCCTCTGACC	0.542													6	76					0	0	1	0	0	C	52192452	T	C	52192452	3	2	145	1	0	0	0	0	1	0	0	0	17769	1464	51	3	303	3	ZNF217	20	52192452	Missense_Mutation	SNP	T	TCGA-FG-8182-01A-11D-2253-08	32068903	52192452	10833068	37	6588											
ADSL	158	broad.mit.edu	37	chr22	40762494	40762494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttaaaaccatatgaaagcGtgatgaaggtgaaagcagaa	18	8	11	4	1	0	5	0	4	0	1	0	5	0	5	1	1	3	2	1	1	7	2			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr22:40762494G>A	uc003ayp.4	+	12	1482	c.1423G>A	c.(1423-1425)Gtg>Atg	p.V475M	ADSL_uc003ays.4_Missense_Mutation_p.V416M	NM_000026	NP_000017	P30566	PUR8_HUMAN	Homo sapiens adenylosuccinate lyase (ADSL), transcript variant 1, mRNA.	475					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity	p.S474S(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						ATATGAAAGCGTGATGAAGGT	0.358													4	47					0	0	1	0	0	A	40762494	G	A	40762494	3	1	145	1	0	0	0	0	1	0	0	0	346	1145	40	1	1473	1	ADSL	22	40762494	Missense_Mutation	SNP	G	TCGA-FG-8182-01A-11D-2253-08		40762494	10542072	38	6589											
CCDC22	28952	broad.mit.edu	37	chrX	49105641	49105641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgccagatcttgtctgataCgaaggagcttcagaaggaaa	13	9	11	8	1	3	3	1	1	2	2	3	6	3	5	1	2	3	1	1	2	4	3			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chrX:49105641C>T	uc004dnd.2	+	13	1723	c.1553C>T	c.(1552-1554)aCg>aTg	p.T518M		NM_014008	NP_054727	O60826	CCD22_HUMAN	Homo sapiens coiled-coil domain containing 22 (CCDC22), mRNA.	518										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						TTGTCTGATACGAAGGAGCTT	0.577													6	29					0	0	1	0	0	T	49105641	C	T	49105641	3	4	145	1	0	0	0	0	1	0	0	0	2797	536	19	1	1607	1	CCDC22	23	49105641	Missense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08		49105641	106164919	39	6590											
VSIG4	11326	broad.mit.edu	37	chrX	65253475	65253475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgtggctcacatgcaggcGgccctggtactttgcctgct	4	12	12	13	1	1	0	1	0	0	0	1	0	1	0	2	4	4	4	2	4	1	3			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chrX:65253475G>A	uc004dwh.2	-	1	380	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C	VSIG4_uc004dwi.2_Missense_Mutation_p.R85C|VSIG4_uc004dwj.3_Missense_Mutation_p.R85C|VSIG4_uc011moy.2_Missense_Mutation_p.R85C	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 4 (VSIG4), transcript variant 1, mRNA.	85	Ig-like 1.				complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACATGCAGGCGGCCCTGGTAC	0.547													17	59					0	0	1	0	0	A	65253475	G	A	65253475	3	1	145	1	0	0	0	0	1	0	0	0	17222	1116	39	2	978	2	VSIG4	23	65253475	Missense_Mutation	SNP	G	TCGA-FG-8182-01A-11D-2253-08	16147834	65253475	90017085	40	6591											
ATRX	546	broad.mit.edu	37	chrX	76845302	76845302	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagaaatatttgtagctcAcctttataaataaggggttt	14	14	7	6	0	1	1	1	0	0	1	1	1	1	1	1	2	1	3	1	2	7	8			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chrX:76845302A>G	uc004ecp.4	-	27	6449	c.6217_splice	c.e27+1	p.G2073_splice	ATRX_uc004ecq.4_Splice_Site_p.G2035_splice|ATRX_uc004eco.4_Splice_Site_p.G1858_splice	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2073	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTTGTAGCTCACCTTTATAAA	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						3	8					0	0	1	0	0	G	76845302	A	G	76845302	5	3	145	1	0	0	0	0	0	0	1	0	1208	173	6	3	1295	3	ATRX	23	76845302	Splice_Site	SNP	A	TCGA-FG-8182-01A-11D-2253-08	11591827	76845302	78425258	41	6592											
ATRX	546	broad.mit.edu	37	chrX	76890105	76890106	+	Frame_Shift_Ins	INS	-	-	CATA																															tgtaaagtcttaccaaggccINScatacagtgggcaagaatgc																										TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chrX:76890105_76890106insCATA	uc004ecp.4	-	16	5020_5021	c.4788_4789insTATG	c.(4786-4791)atgggcfs	p.M1596fs	ATRX_uc004ecq.4_Frame_Shift_Ins_p.M1558fs|ATRX_uc004eco.4_Frame_Shift_Ins_p.M1381fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1596	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTACCAAGGCCCATACAGTGGG	0.371			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						16	61	---	---	---	---						CATA	76890106	-	CATA	76890105	7	5	145	1	0	1	1	0	0	0	0	0	1208	623	22	0	2765	0	ATRX	23	76890105	Frame_Shift_Ins	INS	-	TCGA-FG-8182-01A-11D-2253-08	44803	76890105	78380455	42	6593											
ATRX	546	broad.mit.edu	37	chrX	76938654	76938655	+	Frame_Shift_Ins	INS	-	-	T																															cagaagaattacgcttatccINSttttttctcactggaactga																										TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chrX:76938654_76938655insT	uc004ecp.4	-	8	2325_2326	c.2093_2094insA	c.(2092-2094)aagfs	p.K698fs	ATRX_uc004ecq.4_Frame_Shift_Ins_p.K660fs|ATRX_uc004eco.4_Frame_Shift_Ins_p.K483fs|ATRX_uc004ecr.2_Frame_Shift_Ins_p.K630fs|ATRX_uc010nlx.1_Frame_Shift_Ins_p.K669fs|ATRX_uc010nly.1_Frame_Shift_Ins_p.K643fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	698					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.K697R(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TACGCTTATCCTTTTTTCTCAC	0.356			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						9	64	---	---	---	---						T	76938655	-	T	76938654	7	5	145	1	0	1	1	0	0	0	0	0	1208	680	24	0	5492	0	ATRX	23	76938654	Frame_Shift_Ins	INS	-	TCGA-FG-8182-01A-11D-2253-08	48549	76938654	78331906	43	6594											
SRRM1	10250	broad.mit.edu	37	chr1	24995840	24995840	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaagagacgttcaccttcaTtatcatccaagcataggaaa	15	9	6	11	1	3	1	3	0	0	1	4	3	4	2	3	1	1	2	3	1	5	4			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr1:24995840T>C	uc001bjm.3	+	13	2190	c.1966T>C	c.(1966-1968)Tta>Cta	p.L656L	SRRM1_uc010oel.2_Silent_p.L668L|SRRM1_uc009vrh.1_Silent_p.L629L|SRRM1_uc009vri.1_Silent_p.L585L	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	656	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|RNA binding|protein binding	p.L656S(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TTCACCTTCATTATCATCCAA	0.567													3	53					0	0	1	0	0	C	24995840	T	C	24995840	2	2	146	1	0	0	0	0	0	0	0	1	15167	1490	52	3		3	SRRM1	1	24995840	Silent	SNP	T	TCGA-FG-8185-01A-11D-2253-08		24995840	224254781	1	6595											
AMIGO1	57463	broad.mit.edu	37	chr1	110050585	110050585	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccttagacacactcactGtgccattggtcacctcatct	9	12	5	15	0	4	1	3	0	1	1	5	1	5	1	3	1	1	0	3	1	1	2			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr1:110050585G>C	uc021org.1	-	0	950	c.950C>G	c.(949-951)aCa>aGa	p.T317R	AMIGO1_uc001dxx.4_Missense_Mutation_p.T317R	NM_020703	NP_065754	Q86WK6	AMGO1_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 1 (AMIGO1), mRNA.	317	Ig-like C2-type.				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		CACACTCACTGTGCCATTGGT	0.512													7	158					0	0	1	0	0	C	110050585	G	C	110050585	3	2	146	1	0	0	0	0	1	0	0	0	575	1377	48	5	535	5	AMIGO1	1	110050585	Missense_Mutation	SNP	G	TCGA-FG-8185-01A-11D-2253-08	85054745	110050585	139200036	2	6596											
AMPD1	270	broad.mit.edu	37	chr1	115216305	115216305	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acactgttccttgccacttcGcacatatcacaggtgctcag	9	11	7	14	1	2	0	2	0	0	0	4	0	3	0	2	1	2	3	2	1	1	4			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr1:115216305G>A	uc001efe.2	-	14	2187	c.2139C>T	c.(2137-2139)tgC>tgT	p.C713C	AMPD1_uc001eff.2_Silent_p.C709C	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	680					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TTGCCACTTCGCACATATCAC	0.438													36	33					0	0	1	0	0	A	115216305	G	A	115216305	2	1	146	1	0	0	0	0	0	0	0	1	585	1079	38	1		1	AMPD1	1	115216305	Silent	SNP	G	TCGA-FG-8185-01A-11D-2253-08	5165720	115216305	134034316	3	6597											
BCL9	607	broad.mit.edu	37	chr1	147090673	147090673	+	Frame_Shift_Del	DEL	C	C	-																															cgaaacctctcccacaacagCccccagctccggccaaccag																										TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr1:147090673delC	uc001epq.3	+	7	1452	c.712delC	c.(712-714)cccfs	p.P238fs	BCL9_uc010ozr.1_Frame_Shift_Del_p.P164fs	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	238	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CCCACAACAGCCCCCAGCTCC	0.517			T	"IGH@, IGL@"	B-ALL								8	469	---	---	---	---						-	147090673	C	-	147090673	7	5	146	1	0	1	0	1	0	0	0	0	1381	739	26	0	730	0	BCL9	1	147090673	Frame_Shift_Del	DEL	C	TCGA-FG-8185-01A-11D-2253-08	31874368	147090673	102159948	4	6598											
TCHH	7062	broad.mit.edu	37	chr1	152084077	152084077	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctctcctcctgctcgcgtCttagttgttgctcgctcctc	1	15	8	17	3	2	0	0	0	2	0	8	0	4	0	4	0	2	5	4	0	1	3			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr1:152084077C>G	uc009wne.1	-	2	1888	c.1616G>C	c.(1615-1617)aGa>aCa	p.R539T	TCHH_uc001ezp.2_Missense_Mutation_p.R539T	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	539	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTCGCGTCTTAGTTGTTG	0.652													15	241					0	0	1	0	0	G	152084077	C	G	152084077	3	3	146	1	0	0	0	0	1	0	0	0	15697	913	32	5	4219	5	TCHH	1	152084077	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08	4993404	152084077	97166544	5	6599											
LAMC1	3915	broad.mit.edu	37	chr1	183086809	183086809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtatctgtacccttgatcGctcagggcaattcctatcca	9	12	8	12	1	2	1	1	1	1	0	5	2	4	1	3	1	1	4	3	1	4	5			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr1:183086809G>A	uc001gpy.4	+	9	2085	c.1828G>A	c.(1828-1830)Gct>Act	p.A610T		NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	610	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCCTTGATCGCTCAGGGCAA	0.483													4	77					0	0	1	0	0	A	183086809	G	A	183086809	3	1	146	1	0	0	0	0	1	0	0	0	8614	1087	38	1	1866	1	LAMC1	1	183086809	Missense_Mutation	SNP	G	TCGA-FG-8185-01A-11D-2253-08	31002732	183086809	66163812	6	6600											
MIA3	375056	broad.mit.edu	37	chr1	222803484	222803484	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccctataatatggaaaaagtCctagataaggtcttccgtgc	13	11	8	9	1	1	1	0	0	1	1	3	2	3	2	3	2	1	0	3	2	7	6			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr1:222803484C>G	uc001hnl.3	+	3	2931	c.2922C>G	c.(2920-2922)gtC>gtG	p.V974V	MIA3_uc009xea.1_Silent_p.V810V	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	974					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	p.V974fs*4(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TGGAAAAAGTCCTAGATAAGG	0.428													19	24					0	0	1	0	0	G	222803484	C	G	222803484	2	3	146	1	0	0	0	0	0	0	0	1	9565	842	30	5		5	MIA3	1	222803484	Silent	SNP	C	TCGA-FG-8185-01A-11D-2253-08	39716675	222803484	26447137	7	6601											
APOB	338	broad.mit.edu	37	chr2	21228306	21228306	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agattcaggcacggttatctCaaaaaagggaatcaaggagt	16	8	11	6	1	3	1	3	0	1	1	4	3	3	3	0	4	0	2	0	4	6	2			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr2:21228306C>G	uc002red.3	-	25	11562	c.11434G>C	c.(11434-11436)Gag>Cag	p.E3812Q		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3812					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACGGTTATCTCAAAAAAGGGA	0.423													59	72					0	0	1	0	0	G	21228306	C	G	21228306	3	3	146	1	0	0	0	0	1	0	0	0	785	835	29	5	2273	5	APOB	2	21228306	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08		21228306	221971067	8	6602											
VAX2	25806	broad.mit.edu	37	chr2	71148309	71148309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggacacgtacatccttcaCtgccgagcagctgtaccgcc	8	7	10	16	4	1	0	1	0	0	0	2	2	2	1	4	1	5	4	4	1	2	3			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr2:71148309C>T	uc002shh.3	+	1	361	c.329C>T	c.(328-330)aCt>aTt	p.T110I		NM_012476	NP_036608	Q9UIW0	VAX2_HUMAN	Homo sapiens ventral anterior homeobox 2 (VAX2), mRNA.	110					ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						ACATCCTTCACTGCCGAGCAG	0.622													4	76					0	0	1	0	0	T	71148309	C	T	71148309	3	4	146	1	0	0	0	0	1	0	0	0	17132	565	20	3	335	3	VAX2	2	71148309	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08	49920003	71148309	172051064	9	6603											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr2:209113113G>A	uc002vcs.3	-	3	640	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_uc002vct.3_Missense_Mutation_p.R132C|IDH1_uc002vcu.3_Missense_Mutation_p.R132C	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								23	41					0	0	1	0	0	A	209113113	G	A	209113113	3	1	146	1	0	0	0	0	1	0	0	0	7494	1058	37	2	878	2	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-FG-8185-01A-11D-2253-08	137964804	209113113	34086260	10	6604											
VHL	7428	broad.mit.edu	37	chr3	10191622	10191622	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcggctgacacaggagcgCattgcacatcaacggatggg	11	5	15	10	3	1	1	1	1	0	0	1	4	1	3	0	4	4	3	0	4	1	1			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr3:10191622C>T	uc003bvc.3	+	2	828	c.615C>T	c.(613-615)cgC>cgT	p.R205R	VHL_uc003bvd.3_Silent_p.R164R	NM_000551	NP_000542	P40337	VHL_HUMAN	Homo sapiens von Hippel-Lindau tumor suppressor (VHL), transcript variant 1, mRNA.	205					anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.I206fs*10(2)|p.E204G(1)|p.E204D(1)|p.R205fs*>9(1)|p.E204K(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CACAGGAGCGCATTGCACATC	0.468		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				13	16					0	0	1	0	0	T	10191622	C	T	10191622	2	4	146	1	0	0	0	0	0	0	0	1	17159	697	25	3		3	VHL	3	10191622	Silent	SNP	C	TCGA-FG-8185-01A-11D-2253-08		10191622	187830808	11	6605											
ZIC4	84107	broad.mit.edu	37	chr3	147108852	147108852	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagctgggcggcggcgaGcgcccgtgcaccttcatgtg	5	6	16	14	5	1	1	1	0	0	1	1	2	1	1	3	3	3	2	3	3	0	1			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr3:147108852G>C	uc011bno.2	-	3	1206	c.1020C>G	c.(1018-1020)cgC>cgG	p.R340R	ZIC4_uc021xfc.1_Non-coding_Transcript|ZIC4_uc021xfd.1_Non-coding_Transcript|ZIC4_uc021xfe.1_Non-coding_Transcript|ZIC4_uc003ewc.2_Silent_p.R220R|ZIC4_uc021xff.1_Silent_p.R328R|ZIC4_uc003ewd.2_Silent_p.R290R|ZIC4_uc021xfg.1_Silent_p.R84R	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	290						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GCGGCGGCGAGCGCCCGTGCA	0.667													5	108					0	0	1	0	0	C	147108852	G	C	147108852	2	2	146	1	0	0	0	0	0	0	0	1	17678	958	34	5		5	ZIC4	3	147108852	Silent	SNP	G	TCGA-FG-8185-01A-11D-2253-08	136917230	147108852	50913578	12	6606											
YEATS2	55689	broad.mit.edu	37	chr3	183493803	183493805	+	In_Frame_Del	DEL	AGG	AGG	-																															agcggtggaggcggcagcacAggaggaggaggaggaacagc																										TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr3:183493803_183493805delAGG	uc003fly.2	+	17	2664_2666	c.2469_2471delAGG	c.(2467-2472)acagga>aca	p.G828del	YEATS2_uc003flz.3_5'UTR	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	828	Gly-rich.				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			gcggcagcacaggaggaggagga	0.601													7	48	---	---	---	---						-	183493805	AGG	-	183493803	7	5	146	1	0	1	0	1	0	0	0	0	17469	175	7	0	2535	0	YEATS2	3	183493803	In_Frame_Del	DEL	AGG	TCGA-FG-8185-01A-11D-2253-08	36384951	183493803	14528627	13	6607											
UGT2B10	7365	broad.mit.edu	37	chr4	69696406	69696406	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcttctggattgaatttGtcatgcgccacaaaggagcc	10	11	10	10	1	3	1	1	1	2	0	3	3	3	3	2	2	2	0	2	2	2	3			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr4:69696406G>C	uc003hee.3	+	5	1421	c.1396G>C	c.(1396-1398)Gtc>Ctc	p.V466L	UGT2B10_uc011cam.2_Missense_Mutation_p.V382L	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	466					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GATTGAATTTGTCATGCGCCA	0.438													11	188					0	0	1	0	0	C	69696406	G	C	69696406	3	2	146	1	0	0	0	0	1	0	0	0	16953	1377	48	5	1418	5	UGT2B10	4	69696406	Missense_Mutation	SNP	G	TCGA-FG-8185-01A-11D-2253-08		69696406	121457870	14	6608											
NAIP	4671	broad.mit.edu	37	chr5	70405049	70405049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacaagctttctgggtggtCgaaaaagtactgtaagttaa	13	12	11	5	1	1	1	0	1	1	0	2	2	1	1	0	2	2	4	0	2	6	4			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr5:70405049C>T	uc003kat.1	-	0	2815	c.1549G>A	c.(1549-1551)Gac>Aac	p.D517N	DQ570835_uc021yai.1_Non-coding_Transcript	NM_022892	NP_075043	Q13075	BIRC1_HUMAN	Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 2, mRNA.	905	NACHT.				anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TCTGGGTGGTCGAAAAAGTAC	0.418													9	138					0	0	1	0	0	T	70405049	C	T	70405049	3	4	146	1	0	0	0	0	1	0	0	0	10147	899	31	2		2	NAIP	5	70405049	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08		70405049	110510211	15	6609											
DIAPH1	1729	broad.mit.edu	37	chr5	140958726	140958726	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgttccacttcatccatctCagctctttctgtcattgcct	6	16	4	15	1	5	0	3	0	3	0	8	0	7	0	3	0	2	2	3	0	0	4			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr5:140958726C>G	uc003llb.4	-	8	1003	c.862G>C	c.(862-864)Gag>Cag	p.E288Q	DIAPH1_uc003llc.4_Missense_Mutation_p.E279Q|DIAPH1_uc021yep.1_Missense_Mutation_p.E288Q|DIAPH1_uc021yeq.1_Missense_Mutation_p.E279Q	NM_005219	NP_005210	O60610	DIAP1_HUMAN	Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.	288	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	Rho GTPase binding|actin binding|receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATCCATCTCAGCTCTTTCT	0.473													5	226					0	0	1	0	0	G	140958726	C	G	140958726	3	3	146	1	0	0	0	0	1	0	0	0	4518	835	29	5	3036	5	DIAPH1	5	140958726	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08	70553677	140958726	39956534	16	6610											
GABRG2	2566	broad.mit.edu	37	chr5	161569181	161569181	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgttccaggagattatgtgGtcatgtctgtctactttgat	7	17	10	7	0	3	2	1	1	2	1	4	3	4	2	1	2	1	1	1	2	2	4			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr5:161569181G>T	uc010jjc.3	+	7	1259	c.901G>T	c.(901-903)Gtc>Ttc	p.V301F	GABRG2_uc003lyy.4_Missense_Mutation_p.V261F|GABRG2_uc003lyz.4_Missense_Mutation_p.V261F|GABRG2_uc011dej.2_Missense_Mutation_p.V166F	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	261					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding	p.V261F(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		AGATTATGTGGTCATGTCTGT	0.403													33	77					1.32136e-16	1.42622e-16	1	1	0	T	161569181	G	T	161569181	3	4	146	1	0	0	0	0	1	0	0	0	6172	1261	44	5	931	5	GABRG2	5	161569181	Missense_Mutation	SNP	G	TCGA-FG-8185-01A-11D-2253-08	20610455	161569181	19346079	17	6611											
MED23	9439	broad.mit.edu	37	chr6	131929091	131929091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttttctgggtatagcaagtCgaagagcttcatcacaggga	11	12	11	7	1	3	1	2	0	1	1	4	3	3	2	0	2	2	3	0	2	4	5			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr6:131929091C>T	uc003qcs.1	-	11	1372	c.1198G>A	c.(1198-1200)Gac>Aac	p.D400N	MED23_uc003qcq.3_Missense_Mutation_p.D406N|MED23_uc011eca.1_Intron|MED23_uc003qct.1_Missense_Mutation_p.D406N|MED23_uc011ecb.1_Non-coding_Transcript	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	400					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TATAGCAAGTCGAAGAGCTTC	0.343													16	21					0	0	1	0	0	T	131929091	C	T	131929091	3	4	146	1	0	0	0	0	1	0	0	0	9441	884	31	2	2987	2	MED23	6	131929091	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08		131929091	39185976	18	6612											
HEPACAM2	253012	broad.mit.edu	37	chr7	92838050	92838050	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atatatgtagtattgtcagtCctcctaatccaggagtaggt	11	14	9	7	0	1	0	1	0	0	0	4	1	4	1	3	2	0	3	3	2	6	7			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr7:92838050C>G	uc011khy.2	-	4	947	c.924G>C	c.(922-924)agG>agC	p.R308S	HEPACAM2_uc003uml.3_Missense_Mutation_p.R273S|HEPACAM2_uc010lff.3_Missense_Mutation_p.R273S|HEPACAM2_uc003umm.3_Missense_Mutation_p.R285S	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	285	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TATTGTCAGTCCTCCTAATCC	0.443													26	23					0	0	1	0	0	G	92838050	C	G	92838050	3	3	146	1	0	0	0	0	1	0	0	0	7053	854	30	5	561	5	HEPACAM2	7	92838050	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08		92838050	66300613	19	6613											
CPA2	1358	broad.mit.edu	37	chr7	129929564	129929564	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttgaaggcaatcatggagCatgtgcgagaccacccctat	11	8	11	11	1	1	2	1	1	0	1	1	4	1	3	3	2	2	3	3	2	3	2			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr7:129929564C>G	uc003vpq.3	+	10	1256	c.1237C>G	c.(1237-1239)Cat>Gat	p.H413D		NM_001869	NP_001860	P48052	CBPA2_HUMAN	Homo sapiens carboxypeptidase A2 (pancreatic) (CPA2), mRNA.	413					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding	p.R413P(1)|p.R413L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					AATCATGGAGCATGTGCGAGA	0.512													4	103					0	0	1	0	0	G	129929564	C	G	129929564	3	3	146	1	0	0	0	0	1	0	0	0	3790	710	25	5	1279	5	CPA2	7	129929564	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08	37091514	129929564	29209099	20	6614											
KIAA1429	25962	broad.mit.edu	37	chr8	95530133	95530133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccaaaataagtatgcatgCgtaattataagctactgact	16	11	6	8	1	0	1	0	1	0	0	0	1	0	1	1	0	4	4	1	0	8	6			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr8:95530133C>T	uc003ygo.2	-	9	2622	c.2551G>A	c.(2551-2553)Gca>Aca	p.A851T	KIAA1429_uc003ygp.3_Missense_Mutation_p.A851T|KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	851					RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AGTATGCATGCGTAATTATAA	0.318													8	12					0	0	1	0	0	T	95530133	C	T	95530133	3	4	146	1	0	0	0	0	1	0	0	0	8231	768	27	1	3001	1	KIAA1429	8	95530133	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08		95530133	50833889	21	6615											
SVEP1	79987	broad.mit.edu	37	chr9	113139603	113139603	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggacaggaacaagcatttggGcgttggcagatgcccccatt	10	8	13	10	1	0	1	0	0	0	1	0	3	0	3	2	4	3	3	2	4	2	3			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr9:113139603G>C	uc010mtz.3	-	44	10789	c.10452C>G	c.(10450-10452)cgC>cgG	p.R3484R	SVEP1_uc010mty.3_Silent_p.R1410R	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	3484					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AAGCATTTGGGCGTTGGCAGA	0.502													25	55					0	0	1	0	0	C	113139603	G	C	113139603	2	2	146	1	0	0	0	0	0	0	0	1	15417	1190	42	5		5	SVEP1	9	113139603	Silent	SNP	G	TCGA-FG-8185-01A-11D-2253-08		113139603	28073828	22	6616											
TNFSF15	9966	broad.mit.edu	37	chr9	117568099	117568099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttacctggaactgcacacagGcctctccctgggcccggagc	7	7	11	16	1	1	0	0	0	1	0	2	2	1	2	4	4	4	1	4	4	2	1			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr9:117568099G>A	uc004bjh.3	-	0	310	c.194C>T	c.(193-195)gCc>gTc	p.A65V		NM_005118	NP_005109	O95150	TNF15_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 15 (TNFSF15), transcript variant 1, mRNA.	65					activation of NF-kappaB-inducing kinase activity|activation of caspase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						CTGCACACAGGCCTCTCCCTG	0.602													14	64					0	0	1	0	0	A	117568099	G	A	117568099	3	1	146	1	0	0	0	0	1	0	0	0	16305	1203	42	3	577	3	TNFSF15	9	117568099	Missense_Mutation	SNP	G	TCGA-FG-8185-01A-11D-2253-08	4428496	117568099	23645332	23	6617											
CACNA1B	774	broad.mit.edu	37	chr9	140946550	140946550	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcccttctagaggatcCaaagggaaagacatcaatac	14	9	7	11	0	3	2	1	0	2	2	5	4	4	4	2	2	1	0	2	2	5	4			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr9:140946550C>G	uc004cog.3	+	24	3862	c.3717C>G	c.(3715-3717)tcC>tcG	p.S1239S	CACNA1B_uc022bqn.1_Silent_p.S1239S|CACNA1B_uc011mfd.2_Silent_p.S840S|CACNA1B_uc004coi.3_Silent_p.S453S	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1239					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTAGAGGATCCAAAGGGAAAG	0.582													8	15					0	0	1	0	0	G	140946550	C	G	140946550	2	3	146	1	0	0	0	0	0	0	0	1	2539	581	21	5		5	CACNA1B	9	140946550	Silent	SNP	C	TCGA-FG-8185-01A-11D-2253-08	23378451	140946550	266881	24	6618											
ADARB2	105	broad.mit.edu	37	chr10	1779285	1779285	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcctcctcttggacttGcatttgagttgactgctcag	5	15	8	13	0	2	2	1	2	1	0	5	3	5	3	3	1	2	3	3	1	0	4			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr10:1779285G>C	uc009xhq.3	-	0	386	c.60C>G	c.(58-60)tgC>tgG	p.C20W		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	20					mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TCTTGGACTTGCATTTGAGTT	0.701													44	231					0	0	1	0	0	C	1779285	G	C	1779285	3	2	146	1	0	0	0	0	1	0	0	0	283	1311	46	5	2199	5	ADARB2	10	1779285	Missense_Mutation	SNP	G	TCGA-FG-8185-01A-11D-2253-08		1779285	133755462	25	6619											
SLC17A6	57084	broad.mit.edu	37	chr11	22360149	22360149	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaattttgctggaaaatcaCtcggccagatctacaggtaa	14	10	9	8	1	2	2	1	0	1	2	3	3	2	3	1	3	2	2	1	3	5	4			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr11:22360149C>G	uc001mqk.3	+	0	483	c.70C>G	c.(70-72)Ctc>Gtc	p.L24V		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	24					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.S23L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TGGAAAATCACTCGGCCAGAT	0.473													9	26					0	0	1	0	0	G	22360149	C	G	22360149	3	3	146	1	0	0	0	0	1	0	0	0	14421	565	20	5	72	5	SLC17A6	11	22360149	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08		22360149	112646367	26	6620											
OR5D14	219436	broad.mit.edu	37	chr11	55563737	55563737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatccgttctgttagtgggCgccacaaagccttctccacc	9	10	8	14	2	2	0	0	0	2	0	4	0	3	0	5	1	1	2	5	1	3	3	rs145440752	byFrequency	TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr11:55563737C>T	uc010rim.2	+	0	706	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R236H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGTTAGTGGGCGCCACAAAGC	0.463													32	52					0	0	1	0	0	T	55563737	C	T	55563737	3	4	146	1	0	0	0	0	1	0	0	0	11155	768	27	1	708	1	OR5D14	11	55563737	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08	33203588	55563737	79442779	27	6621											
MMP20	9313	broad.mit.edu	37	chr11	102465488	102465488	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acctgccgtctccagaaaatCctatgggacattccaaaaaa	15	8	6	12	1	1	1	0	0	1	1	4	2	3	2	5	1	1	0	5	1	6	2			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr11:102465488C>G	uc001phc.3	-	7	967	c.954_splice	c.e7-1	p.R318_splice		NM_004771	NP_004762	O60882	MMP20_HUMAN	Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA.	318	Hemopexin-like 1.				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		TCCAGAAAATCCTATGGGACA	0.418													15	18					0	0	1	0	0	G	102465488	C	G	102465488	5	3	146	1	0	0	0	0	0	0	1	0	9659	869	30	5	513	5	MMP20	11	102465488	Splice_Site	SNP	C	TCGA-FG-8185-01A-11D-2253-08	46901751	102465488	32541028	28	6622											
MDM2	4193	broad.mit.edu	37	chr12	69230521	69230521	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagaagatcctgaaattTccttagctgtaagtatacat	14	14	7	6	0	0	4	0	2	0	2	2	4	2	4	2	0	2	3	2	0	7	6			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr12:69230521T>C	uc021rad.1	+	8	1063	c.589T>C	c.(589-591)Tcc>Ccc	p.S197P	MDM2_uc001sui.3_Missense_Mutation_p.S304P|MDM2_uc009zqx.3_Missense_Mutation_p.S249P|MDM2_uc021rae.1_Missense_Mutation_p.S246P|MDM2_uc001sun.4_Missense_Mutation_p.S123P|MDM2_uc009zra.3_Intron|MDM2_uc021raf.1_5'UTR|MDM2_uc009zrc.3_Intron|MDM2_uc009zrd.3_5'UTR|MDM2_uc009zre.3_Intron|MDM2_uc001suo.3_Missense_Mutation_p.S98P|MDM2_uc009zrf.3_Intron|MDM2_uc009zrg.3_Intron|MDM2_uc009zrh.3_Intron|MDM2_uc021rag.1_Non-coding_Transcript|MDM2_uc021rah.1_Missense_Mutation_p.S268P|MDM2_uc021rai.1_5'UTR|MDM2_uc021raj.1_Intron			Q00987	MDM2_HUMAN	Homo sapiens Mdm2 p53 binding protein homolog (mouse) (MDM2), transcript variant MDM2, mRNA.	298	Interaction with MTBP (By similarity).|Interaction with PYHIN1.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|cellular response to hypoxia|establishment of protein localization|interspecies interaction between organisms|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TCCTGAAATTTCCTTAGCTGT	0.308			A		"sarcoma, glioma, colorectal, other"								26	41					0	0	1	0	0	C	69230521	T	C	69230521	3	2	146	1	0	0	0	0	1	0	0	0	9413	1783	62	3	948	3	MDM2	12	69230521	Missense_Mutation	SNP	T	TCGA-FG-8185-01A-11D-2253-08		69230521	64621374	29	6623											
PTPRB	5787	broad.mit.edu	37	chr12	71002871	71002871	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttgcaagaccactgttctCtcttcatccagagaaataat	12	13	6	10	0	3	2	1	0	2	2	5	3	4	2	2	0	1	3	2	0	3	4			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr12:71002871C>T	uc001swb.4	-	1	333	c.303G>A	c.(301-303)gaG>gaA	p.E101E	PTPRB_uc010sto.2_Silent_p.E101E|PTPRB_uc010stp.2_Silent_p.E101E|PTPRB_uc001swc.4_Silent_p.E319E|PTPRB_uc001swa.4_Silent_p.E319E|PTPRB_uc001swd.4_Silent_p.E318E|PTPRB_uc009zrr.2_Silent_p.E198E|PTPRB_uc001swe.3_Silent_p.E319E	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	101	Fibronectin type-III 1.				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)			CCACTGTTCTCTCTTCATCCA	0.463													5	120					0	0	1	0	0	T	71002871	C	T	71002871	2	4	146	1	0	0	0	0	0	0	0	1	12796	912	32	3		3	PTPRB	12	71002871	Silent	SNP	C	TCGA-FG-8185-01A-11D-2253-08	1772350	71002871	62849024	30	6624											
GALNTL1	57452	broad.mit.edu	37	chr14	69813836	69813836	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagggccagaacacagctGgtgacttcctgcttggaatg	9	9	12	11	0	1	2	1	1	0	1	2	3	2	3	2	3	3	2	2	3	2	2			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr14:69813836G>A	uc001xlb.2	+	12	1678	c.1351G>A	c.(1351-1353)Ggt>Agt	p.G451S	GALNTL1_uc001xla.2_Missense_Mutation_p.G451S|GALNTL1_uc010aqu.2_Missense_Mutation_p.G451S	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA.	451	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2)	24				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		GAACACAGCTGGTGACTTCCT	0.587											OREG0022763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	81					0	0	1	0	0	A	69813836	G	A	69813836	3	1	146	1	0	0	0	0	1	0	0	0	6221	1348	47	3	1401	3	GALNTL1	14	69813836	Missense_Mutation	SNP	G	TCGA-FG-8185-01A-11D-2253-08		69813836	37535704	31	6625											
GALC	2581	broad.mit.edu	37	chr14	88454494	88454494	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaattctcctacctgttgTctgcccatcaccacctattt	8	14	3	16	0	3	0	1	0	2	0	4	0	3	0	6	0	2	1	6	0	3	5			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr14:88454494T>A	uc001xvt.3	-	2	429	c.322A>T	c.(322-324)Aca>Tca	p.T108S	GALC_uc010tvy.2_Missense_Mutation_p.T85S|GALC_uc010tvx.2_Missense_Mutation_p.T82S|GALC_uc010tvz.1_Missense_Mutation_p.T52S|GALC_uc001xvu.2_Missense_Mutation_p.T108S	NM_000153	NP_000144	P54803	GALC_HUMAN	Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA.	108					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTACCTGTTGTCTGCCCATCA	0.358													15	30					0	0	1	0	0	A	88454494	T	A	88454494	3	1	146	1	0	0	0	0	1	0	0	0	6201	1667	58	5	1858	5	GALC	14	88454494	Missense_Mutation	SNP	T	TCGA-FG-8185-01A-11D-2253-08	18640658	88454494	18895046	32	6626											
LIPC	3990	broad.mit.edu	37	chr15	58855814	58855814	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaaaacagtgcagtgtgggCcaatgtctgggacacggtcc	10	7	15	9	1	1	0	0	0	1	0	2	2	2	2	2	4	2	1	2	4	3	0			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr15:58855814C>T	uc010bga.2	+	9	1888	c.1280C>T	c.(1279-1281)gCc>gTc	p.A427V	LIPC_uc010bfz.1_Missense_Mutation_p.A427V|LIPC_uc002afa.2_Missense_Mutation_p.A427V|LIPC_uc010bgb.1_Missense_Mutation_p.A325V|LIPC_uc010ugy.2_Missense_Mutation_p.A366V	NM_000236	NP_000227	P11150	LIPC_HUMAN	Homo sapiens lipase, hepatic (LIPC), mRNA.	427	PLAT.				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		GCAGTGTGGGCCAATGTCTGG	0.507													6	83					0	0	1	0	0	T	58855814	C	T	58855814	3	4	146	1	0	0	0	0	1	0	0	0	8820	739	26	3	1310	3	LIPC	15	58855814	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08		58855814	43675578	33	6627											
SOCS1	8651	broad.mit.edu	37	chr16	11349039	11349039	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcgcgcaccaggaaggtGcccacgggctcggcgcgcag	6	4	16	15	6	0	0	0	0	0	0	2	1	0	1	2	4	1	3	2	4	1	0			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr16:11349039G>T	uc021tcz.1	-	0	297	c.297C>A	c.(295-297)ggC>ggA	p.G99G	RMI2_uc002daq.1_Intron|SOCS1_uc002dar.1_Silent_p.G99G	NM_003745	NP_003736	O15524	SOCS1_HUMAN	Homo sapiens suppressor of cytokine signaling 1 (SOCS1), mRNA.	99	SH2.				JAK-STAT cascade|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of tyrosine phosphorylation of Stat3 protein|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	insulin-like growth factor receptor binding|protein kinase binding|protein kinase inhibitor activity	p.D63_Q108del(2)|p.Y64fs*1(1)|p.0?(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(66)|lung(3)	71						CCAGGAAGGTGCCCACGGGCT	0.706			"F, O"		"Hodgkin Lymphoma, PMBL"								3	10					1	1	1	1	0	T	11349039	G	T	11349039	2	4	146	1	0	0	0	0	0	0	0	1	14913	1306	46	5		5	SOCS1	16	11349039	Silent	SNP	G	TCGA-FG-8185-01A-11D-2253-08		11349039	79005714	34	6628											
FAM192A	80011	broad.mit.edu	37	chr16	57206707	57206707	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaatttgaactgttcctcGtactcctgctgcttcctgtc	5	16	7	13	1	0	2	0	2	0	0	5	2	3	2	3	0	4	4	3	0	3	4			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr16:57206707G>A	uc021tiy.1	-	2	466	c.207C>T	c.(205-207)taC>taT	p.Y69Y	FAM192A_uc021tiz.1_Silent_p.Y69Y|FAM192A_uc021tja.1_Non-coding_Transcript	NM_024946	NP_079222	Q9GZU8	F192A_HUMAN	Homo sapiens family with sequence similarity 192, member A (FAM192A), mRNA.	69						nucleus				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						ACTGTTCCTCGTACTCCTGCT	0.468													42	46					0	0	1	0	0	A	57206707	G	A	57206707	2	1	146	1	0	0	0	0	0	0	0	1	5523	1140	40	1		1	FAM192A	16	57206707	Silent	SNP	G	TCGA-FG-8185-01A-11D-2253-08	45857668	57206707	33148046	35	6629											
ANKRD11	29123	broad.mit.edu	37	chr16	89351668	89351668	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatatcgtatgtgccgagaGtctcagcttctctcctgtcc	7	13	8	13	2	2	1	1	0	2	1	7	2	4	1	3	0	2	2	3	0	3	3			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr16:89351668G>C	uc002fmx.1	-	8	1743	c.1282C>G	c.(1282-1284)Ctc>Gtc	p.L428V	ANKRD11_uc002fmy.1_Missense_Mutation_p.L428V|ANKRD11_uc002fnc.1_Missense_Mutation_p.L428V|ANKRD11_uc002fnb.1_Missense_Mutation_p.L385V	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	428						nucleus		p.L428L(1)		breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGTGCCGAGAGTCTCAGCTTC	0.488													8	100					0	0	1	0	0	C	89351668	G	C	89351668	3	2	146	1	0	0	0	0	1	0	0	0	639	1029	36	5	6729	5	ANKRD11	16	89351668	Missense_Mutation	SNP	G	TCGA-FG-8185-01A-11D-2253-08	32144961	89351668	1003085	36	6630											
TP53	7157	broad.mit.edu	37	chr17	7578203	7578203	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctcatagggcaccaccaCactatgtcgaaaagtgtttc	11	9	9	12	2	1	0	1	0	0	0	3	1	1	0	2	2	0	3	2	2	4	3			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr17:7578203C>A	uc002gim.2	-	5	840	c.646G>T	c.(646-648)Gtg>Ttg	p.V216L	TP53_uc002gig.1_Missense_Mutation_p.V216L|TP53_uc002gih.3_Missense_Mutation_p.V216L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.V84L|TP53_uc010cnf.1_Missense_Mutation_p.V84L|TP53_uc002gii.1_Missense_Mutation_p.V84L|TP53_uc010cni.1_Missense_Mutation_p.V216L|TP53_uc010cnh.1_Missense_Mutation_p.V216L|TP53_uc002gij.2_Missense_Mutation_p.V216L|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.V123L|TP53_uc002gio.2_Missense_Mutation_p.V84L|TP53_uc010vug.2_Missense_Mutation_p.V177L|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	216	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V216M(117)|p.S215R(17)|p.V216del(16)|p.S215I(16)|p.V216L(15)|p.0?(8)|p.S215N(7)|p.V216G(6)|p.S215G(6)|p.S215C(5)|p.?(5)|p.V216E(5)|p.V216fs*6(4)|p.S215fs*32(4)|p.V216A(3)|p.S215T(3)|p.V84M(3)|p.V123M(3)|p.V216fs*32(2)|p.V216fs*33(2)|p.S215fs*27(2)|p.S215fs*29(2)|p.V216fs*5(2)|p.S215S(2)|p.V216_Y220delVVVPY(2)|p.D208_V216delDRNTFRHSV(2)|p.S215fs*31(2)|p.V216fs*31(2)|p.S215_V216insX(2)|p.D207_V216del10(2)|p.H214fs*5(2)|p.S215_V218>R(2)|p.S215_V218>M(2)|p.K164_P219del(1)|p.S215del(1)|p.H214_S215insX(1)|p.T211_S215delTFRHS(1)|p.S215_V218>RR(1)|p.D208fs*1(1)|p.V216fs*28(1)|p.T211fs*28(1)|p.R213_S215>X(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)		GGCACCACCACACTATGTCGA	0.537		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)			26	26					1.77063e-15	1.8813e-15	1	1	0	A	7578203	C	A	7578203	3	1	146	1	0	0	0	0	1	0	0	0	16378	478	17	5	648	5	TP53	17	7578203	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08		7578203	73617007	37	6631											
TP53	7157	broad.mit.edu	37	chr17	7578265	7578265	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatttccttccactcggAtaagatgctgaggaggggcc	10	9	12	10	1	0	2	0	1	0	1	3	4	2	4	3	4	1	2	3	4	2	3			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr17:7578265A>T	uc002gim.2	-	5	778	c.584T>A	c.(583-585)aTc>aAc	p.I195N	TP53_uc002gig.1_Missense_Mutation_p.I195N|TP53_uc002gih.3_Missense_Mutation_p.I195N|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.I63N|TP53_uc010cnf.1_Missense_Mutation_p.I63N|TP53_uc002gii.1_Missense_Mutation_p.I63N|TP53_uc010cni.1_Missense_Mutation_p.I195N|TP53_uc010cnh.1_Missense_Mutation_p.I195N|TP53_uc002gij.2_Missense_Mutation_p.I195N|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.I102N|TP53_uc002gio.2_Missense_Mutation_p.I63N|TP53_uc010vug.2_Missense_Mutation_p.I156N|DL476358_uc021tph.1_Splice_Site	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	195	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.I195T(136)|p.L194R(37)|p.I195N(24)|p.L194F(18)|p.I195F(18)|p.I195S(16)|p.I195fs*14(9)|p.L194P(8)|p.A189_V197delAPPQHLIRV(8)|p.0?(8)|p.L194H(6)|p.?(5)|p.P191_E198>Q(4)|p.L194L(4)|p.I195fs*52(4)|p.H193_I195delHLI(2)|p.I195fs*12(2)|p.I102S(2)|p.I195fs*50(2)|p.L194fs*15(2)|p.I102T(2)|p.I195_G199delIRVEG(2)|p.I63T(2)|p.I63S(2)|p.H193_I195>AP(2)|p.K164_P219del(1)|p.L194V(1)|p.L194fs*14(1)|p.P191fs*6(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195M(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.L194I(1)|p.I195L(1)|p.I63fs*14(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)		TTCCACTCGGATAAGATGCTG	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	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)			27	42					0	0	1	0	0	T	7578265	A	T	7578265	3	4	146	1	0	0	0	0	1	0	0	0	16378	333	12	5	710	5	TP53	17	7578265	Missense_Mutation	SNP	A	TCGA-FG-8185-01A-11D-2253-08	62	7578265	73616945	38	6632											
UBB	7314	broad.mit.edu	37	chr17	16285491	16285491	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgaccggcaagaccatcacCctggaagtggagcccagtga	11	5	12	13	1	1	3	1	2	0	1	1	5	1	5	4	3	1	1	4	3	2	0	rs16962973		TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr17:16285491C>T	uc002gpx.3	+	1	408	c.270C>T	c.(268-270)acC>acT	p.T90T	UBB_uc010vwe.1_Intron|UBB_uc021tqs.1_Silent_p.T90T	NM_018955	NP_061828	P0CG47	UBB_HUMAN	Homo sapiens ubiquitin B (UBB), mRNA.	90	Ubiquitin-like 2.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.I89I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGACCATCACCCTGGAAGTGG	0.552													4	99					0	0	1	0	0	T	16285491	C	T	16285491	2	4	146	1	0	0	0	0	0	0	0	1	16838	610	22	3		3	UBB	17	16285491	Silent	SNP	C	TCGA-FG-8185-01A-11D-2253-08	8707226	16285491	64909719	39	6633											
EFCAB5	374786	broad.mit.edu	37	chr17	28409944	28409944	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttagcactgcctatcactaCgtccacagccgggagcacat	10	9	8	14	2	1	0	1	0	0	0	2	1	2	1	3	1	5	2	3	1	3	4			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr17:28409944C>T	uc002het.3	+	17	3654	c.3462C>T	c.(3460-3462)taC>taT	p.Y1154Y	EFCAB5_uc010cse.3_Silent_p.Y909Y|EFCAB5_uc010csf.3_Intron	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.	1154							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCTATCACTACGTCCACAGCC	0.398													23	143					0	0	1	0	0	T	28409944	C	T	28409944	2	4	146	1	0	0	0	0	0	0	0	1	4938	547	19	1		1	EFCAB5	17	28409944	Silent	SNP	C	TCGA-FG-8185-01A-11D-2253-08	12124453	28409944	52785266	40	6634											
CCL11	6356	broad.mit.edu	37	chr17	32612839	32612839	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctccaacatgaaggtctcCgcagcacttctgtggctgct	7	10	10	14	1	2	1	0	1	2	0	4	1	3	1	3	2	3	4	3	2	2	1			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr17:32612839C>T	uc002hia.1	+	0	153	c.12C>T	c.(10-12)tcC>tcT	p.S4S		NM_002986	NP_002977	P51671	CCL11_HUMAN	Homo sapiens chemokine (C-C motif) ligand 11 (CCL11), mRNA.	4					cell adhesion|cellular calcium ion homeostasis|immune response|positive regulation of Rac GTPase activity|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|protein phosphorylation|response to radiation|response to virus|signal transduction	extracellular space	chemokine activity			breast(1)|lung(1)|prostate(1)	3	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		TGAAGGTCTCCGCAGCACTTC	0.597													12	207					0	0	1	0	0	T	32612839	C	T	32612839	2	4	146	1	0	0	0	0	0	0	0	1	2883	639	23	2		2	CCL11	17	32612839	Silent	SNP	C	TCGA-FG-8185-01A-11D-2253-08	4202895	32612839	48582371	41	6635											
CASKIN2	57513	broad.mit.edu	37	chr17	73502705	73502705	+	Silent	SNP	G	G	T																															ttcttggcagccaagtgcagGggcgtggtgtagttggggtc																										TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr17:73502705G>T	uc002joc.3	-	6	1126	c.576C>A	c.(574-576)ccC>ccA	p.P192P	CASKIN2_uc010wsc.2_Silent_p.P110P|CASKIN2_uc002jod.3_Silent_p.P192P	NM_020753	NP_001136115	Q8WXE0	CSKI2_HUMAN	Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.	192						cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCAAGTGCAGGGGCGTGGTGT	0.622													5	150					0.000602214	0.000611203	1	1	0	T	73502705	G	T	73502705	2	4	146	1	0	0	0	0	0	0	0	1	2667	1219	43	5		5	CASKIN2	17	73502705	Silent	SNP	G	TCGA-FG-8185-01A-11D-2253-08	40889866	73502705	7692505	42	6636	24	2									
CASKIN2	57513	broad.mit.edu	37	chr17	73502707	73502707	+	Missense_Mutation	SNP	G	G	C																															cttggcagccaagtgcagggGcgtggtgtagttggggtcac																										TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr17:73502707G>C	uc002joc.3	-	6	1124	c.574C>G	c.(574-576)Ccc>Gcc	p.P192A	CASKIN2_uc010wsc.2_Missense_Mutation_p.P110A|CASKIN2_uc002jod.3_Missense_Mutation_p.P192A	NM_020753	NP_001136115	Q8WXE0	CSKI2_HUMAN	Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.	192						cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AAGTGCAGGGGCGTGGTGTAG	0.622													5	151					0	0	1	0	0	C	73502707	G	C	73502707	3	2	146	1	0	0	0	0	1	0	0	0	2667	1203	42	5	3090	5	CASKIN2	17	73502707	Missense_Mutation	SNP	G	TCGA-FG-8185-01A-11D-2253-08	2	73502707	7692503	43	6637	24	2									
LAMA1	284217	broad.mit.edu	37	chr18	7023260	7023260	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccaggcacttcaggcactcCccggtgactgagtcacagtg	8	7	11	15	1	2	2	2	2	0	0	3	2	3	2	3	3	0	2	3	3	0	1			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr18:7023260C>A	uc002knm.3	-	18	2698	c.2604G>T	c.(2602-2604)ggG>ggT	p.G868G	LAMA1_uc010wzj.2_Silent_p.G344G	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	868	Laminin EGF-like 8.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.G868G(2)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCAGGCACTCCCCGGTGACTG	0.602													32	39					1.26612e-14	1.32455e-14	1	1	0	A	7023260	C	A	7023260	2	1	146	1	0	0	0	0	0	0	0	1	8605	610	22	5		5	LAMA1	18	7023260	Silent	SNP	C	TCGA-FG-8185-01A-11D-2253-08		7023260	71053988	44	6638											
TCEB3B	51224	broad.mit.edu	37	chr18	44561111	44561111	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggcatccggaggggagcTgtgcgcgttggagaggcccg	5	6	20	10	5	0	1	0	0	0	1	2	4	1	3	2	6	2	3	2	6	0	1			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr18:44561111T>G	uc002lcr.1	-	0	878	c.525A>C	c.(523-525)acA>acC	p.T175T	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	175					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGAGGGGAGCTGTGCGCGTTG	0.687													4	65					0	0	1	0	0	G	44561111	T	G	44561111	2	3	146	1	0	0	0	0	0	0	0	1	15679	1567	55	5		5	TCEB3B	18	44561111	Silent	SNP	T	TCGA-FG-8185-01A-11D-2253-08	37537851	44561111	33516137	45	6639											
STARD6	147323	broad.mit.edu	37	chr18	51858176	51858176	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagtcgataaagtctcgaggGgaaatggagcccacggcaaa	15	5	13	8	3	1	0	0	0	1	0	3	4	1	2	1	4	1	1	1	4	5	1			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr18:51858176G>A	uc010xdt.2	-	3	321	c.321C>T	c.(319-321)tcC>tcT	p.S107S		NM_139171	NP_631910	P59095	STAR6_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 6 (STARD6), mRNA.	107	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		AGTCTCGAGGGGAAATGGAGC	0.368													3	63					0	0	1	0	0	A	51858176	G	A	51858176	2	1	146	1	0	0	0	0	0	0	0	1	15260	1219	43	3		3	STARD6	18	51858176	Silent	SNP	G	TCGA-FG-8185-01A-11D-2253-08	7297065	51858176	26219072	46	6640											
TSHZ1	10194	broad.mit.edu	37	chr18	72999933	72999933	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacgcccaagtcctccacGccctccacagtttcagagaa	10	7	7	17	2	1	2	1	1	0	1	4	3	4	2	5	0	0	1	5	0	2	1			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr18:72999933G>A	uc002lly.3	+	1	2999	c.2436G>A	c.(2434-2436)acG>acA	p.T812T	TSHZ1_uc021uln.1_Silent_p.T812T	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	857						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AGTCCTCCACGCCCTCCACAG	0.602													4	57					0	0	1	0	0	A	72999933	G	A	72999933	2	1	146	1	0	0	0	0	0	0	0	1	16620	1074	38	1		1	TSHZ1	18	72999933	Silent	SNP	G	TCGA-FG-8185-01A-11D-2253-08	21141757	72999933	5077315	47	6641											
CSNK1G2	1455	broad.mit.edu	37	chr19	1979554	1979554	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcttcgagaagcccgactAtgactacctgcggaagctct	9	10	9	13	3	2	2	0	1	2	1	3	5	2	3	2	1	4	1	2	1	4	4			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr19:1979554A>G	uc002lul.4	+	8	1436	c.914A>G	c.(913-915)tAt>tGt	p.Y305C	CSNK1G2_uc010dsu.3_Missense_Mutation_p.Y257C	NM_001319	NP_001310	P78368	KC1G2_HUMAN	Homo sapiens casein kinase 1, gamma 2 (CSNK1G2), mRNA.	305	Protein kinase.				Wnt receptor signaling pathway|sphingolipid metabolic process	cytosol	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|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)		AAGCCCGACTATGACTACCTG	0.652													35	46					0	0	1	0	0	G	1979554	A	G	1979554	3	3	146	1	0	0	0	0	1	0	0	0	3955	449	16	3	944	3	CSNK1G2	19	1979554	Missense_Mutation	SNP	A	TCGA-FG-8185-01A-11D-2253-08		1979554	57149429	48	6642											
ICAM1	3383	broad.mit.edu	37	chr19	10394873	10394873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacagtcacctatggcaacGactccttctcggccaaggcc	9	7	8	17	2	2	0	1	0	1	0	4	1	3	0	5	3	1	1	5	3	3	2			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr19:10394873G>A	uc002mnq.2	+	3	1121	c.802G>A	c.(802-804)Gac>Aac	p.D268N	ICAM1_uc010xle.1_Missense_Mutation_p.D46N|ICAM4_uc002mnr.2_5'Flank|ICAM4_uc002mns.2_5'Flank|ICAM4_uc002mnt.2_5'Flank	NM_000201	NP_000192	P05362	ICAM1_HUMAN	Homo sapiens intercellular adhesion molecule 1 (ICAM1), mRNA.	268	Ig-like C2-type 3.				T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CTATGGCAACGACTCCTTCTC	0.632													26	42					0	0	1	0	0	A	10394873	G	A	10394873	3	1	146	1	0	0	0	0	1	0	0	0	7479	1058	37	2	816	2	ICAM1	19	10394873	Missense_Mutation	SNP	G	TCGA-FG-8185-01A-11D-2253-08	8415319	10394873	48734110	49	6643											
AKAP8	10270	broad.mit.edu	37	chr19	15472624	15472624	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattttcttatttctgtttaCaatgtattcctaggtgggat	9	20	7	5	0	2	0	0	0	2	0	3	1	3	1	1	2	1	2	1	2	6	9			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr19:15472624C>G	uc002nav.3	-	10	1382	c.1312G>C	c.(1312-1314)Gta>Cta	p.V438L	AKAP8_uc010dzy.3_5'UTR|AKAP8_uc010dzz.1_Non-coding_Transcript|AKAP8_uc010xog.2_Missense_Mutation_p.V252L	NM_005858	NP_005849	O43823	AKAP8_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8 (AKAP8), mRNA.	438					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TTTCTGTTTACAATGTATTCC	0.458													3	31					0	0	1	0	0	G	15472624	C	G	15472624	3	3	146	1	0	0	0	0	1	0	0	0	457	478	17	5	782	5	AKAP8	19	15472624	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08	5077751	15472624	43656359	50	6644											
ADCK4	79934	broad.mit.edu	37	chr19	41197999	41197999	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgccggcagtggctgcgtCtggctggcgactggcccagt	3	8	17	13	3	1	0	0	0	1	0	1	1	1	0	2	5	2	4	2	5	0	0			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr19:41197999C>G	uc002oor.2	-	14	1878	c.1576G>C	c.(1576-1578)Gac>Cac	p.D526H	NUMBL_uc010xvq.2_5'Flank|NUMBL_uc010xvr.2_5'Flank|NUMBL_uc002oon.3_5'Flank|NUMBL_uc002ooo.3_5'Flank|ADCK4_uc002oop.1_Missense_Mutation_p.D203H|ADCK4_uc002ooq.2_Missense_Mutation_p.D485H	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Homo sapiens aarF domain containing kinase 4 (ADCK4), transcript variant 1, mRNA.	526						integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GTGGCTGCGTCTGGCTGGCGA	0.672													13	18					0	0	1	0	0	G	41197999	C	G	41197999	3	3	146	1	0	0	0	0	1	0	0	0	290	913	32	5	62	5	ADCK4	19	41197999	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08	25725375	41197999	17930984	51	6645											
TFPT	29844	broad.mit.edu	37	chr19	54611378	54611379	+	Frame_Shift_Ins	INS	-	-	CCATC																															gcgcatttcctgctcggcgtINSccatcccgtggcactcgccg																										TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr19:54611378_54611379insCCATC	uc010yej.1	-	4	1002_1003	c.596_597insGATGG	c.(595-597)ggafs	p.G199fs		NM_013342	NP_037474	P0C1Z6	TFPT_HUMAN	Homo sapiens TCF3 (E2A) fusion partner (in childhood Leukemia) (TFPT), mRNA.	199					DNA recombination|DNA repair|apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|cytoplasm	DNA binding|protein binding			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					CTGCTCGGCGTCCATCCCGTGG	0.713			T	TCF3	pre-B ALL								30	153	---	---	---	---						CCATC	54611379	-	CCATC	54611378	7	5	146	1	0	1	1	0	0	0	0	0	15807	1654	58	0	172	0	TFPT	19	54611378	Frame_Shift_Ins	INS	-	TCGA-FG-8185-01A-11D-2253-08	13413379	54611378	4517605	52	6646											
ZNF460	10794	broad.mit.edu	37	chr19	57802257	57802257	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggacagacccacagagtgaGaaactccatgggaaaatgag	16	4	13	8	0	0	4	0	2	0	3	1	7	1	6	2	2	1	0	2	2	3	0			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr19:57802257G>C	uc002qog.2	+	2	670	c.348G>C	c.(346-348)gaG>gaC	p.E116D	ZNF460_uc010ygv.1_Missense_Mutation_p.E75D	NM_006635	NP_006626	Q14592	ZN460_HUMAN	Homo sapiens zinc finger protein 460 (ZNF460), mRNA.	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACAGAGTGAGAAACTCCATG	0.473													37	53					0	0	1	0	0	C	57802257	G	C	57802257	3	2	146	1	0	0	0	0	1	0	0	0	17921	933	33	5	358	5	ZNF460	19	57802257	Missense_Mutation	SNP	G	TCGA-FG-8185-01A-11D-2253-08	3190879	57802257	1326726	53	6647											
GFRA4	64096	broad.mit.edu	37	chr20	3644008	3644010	+	In_Frame_Del	DEL	CAG	CAG	-																															gaggggcgctcacccagtaaCagcagcagcagcagcgcagg																										TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr20:3644008_3644010delCAG	uc002wio.3	-	0	37_39	c.37_39delCTG	c.(37-39)ctgdel	p.L15del	GFRA4_uc002win.3_In_Frame_Del_p.L15del|GFRA4_uc002wip.1_In_Frame_Del_p.L15del	NM_145762	NP_665705	Q9GZZ7	GFRA4_HUMAN	Homo sapiens GDNF family receptor alpha 4 (GFRA4), transcript variant 2, mRNA.	15						anchored to membrane|extracellular region|plasma membrane	receptor activity			large_intestine(1)|lung(2)	3						CACCCAGTAACAGCAGCAGCAGC	0.621													7	37	---	---	---	---						-	3644010	CAG	-	3644008	7	5	146	1	0	1	0	1	0	0	0	0	6350	465	17	0	880	0	GFRA4	20	3644008	In_Frame_Del	DEL	CAG	TCGA-FG-8185-01A-11D-2253-08		3644008	59381512	54	6648											
MYH7B	57644	broad.mit.edu	37	chr20	33567544	33567544	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggacatggccatgatgacGcacctgaacgaggcctctgt	10	7	13	11	2	1	3	0	3	1	0	1	6	1	4	3	3	1	1	3	3	1	0			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr20:33567544G>A	uc002xbi.2	+	6	722	c.405G>A	c.(403-405)acG>acA	p.T135T	MYH7B_uc010gfa.1_Silent_p.T93T	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	93	Myosin head-like.					membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCATGATGACGCACCTGAACG	0.637													47	71					0	0	1	0	0	A	33567544	G	A	33567544	2	1	146	1	0	0	0	0	0	0	0	1	10040	1074	38	1		1	MYH7B	20	33567544	Silent	SNP	G	TCGA-FG-8185-01A-11D-2253-08	29923536	33567544	29457976	55	6649											
MMP24	10893	broad.mit.edu	37	chr20	33862232	33862232	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcggctgccccaggacgaCgtggacatcatggtgaccat	8	6	14	13	4	1	1	1	1	0	0	1	4	1	3	3	5	1	1	3	5	0	0			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr20:33862232C>T	uc002xbu.2	+	8	1761	c.1758C>T	c.(1756-1758)gaC>gaT	p.D586D	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	Homo sapiens matrix metallopeptidase 24 (membrane-inserted) (MMP24), mRNA.	586					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCCAGGACGACGTGGACATCA	0.657													90	131					0	0	1	0	0	T	33862232	C	T	33862232	2	4	146	1	0	0	0	0	0	0	0	1	9661	535	19	1		1	MMP24	20	33862232	Silent	SNP	C	TCGA-FG-8185-01A-11D-2253-08	294688	33862232	29163288	56	6650											
KCNB1	3745	broad.mit.edu	37	chr20	48098819	48098819	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcacacctcgagcagcgagtCgtgcgtgttgcagtcgcgga	7	7	15	12	6	0	0	0	0	0	0	3	3	0	1	1	1	4	4	1	1	0	1			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr20:48098819C>G	uc002xur.1	-	0	365	c.199G>C	c.(199-201)Gac>Cac	p.D67H	KCNB1_uc002xus.1_Missense_Mutation_p.D67H	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	67					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGCAGCGAGTCGTGCGTGTTG	0.662													5	44					0	0	1	0	0	G	48098819	C	G	48098819	3	3	146	1	0	0	0	0	1	0	0	0	8012	884	31	5	2385	5	KCNB1	20	48098819	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08	14236587	48098819	14926701	57	6651											
KRTAP10-2	386679	broad.mit.edu	37	chr21	45971107	45971107	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctagactgctggcagcAcgagggcgtgcaggagctgg	8	5	18	10	2	0	1	0	0	0	1	0	3	0	2	0	4	5	7	0	4	1	1			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr21:45971107A>G	uc002zfi.1	-	0	282	c.235T>C	c.(235-237)Tgc>Cgc	p.C79R	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198693	NP_941966	P60368	KR102_HUMAN	Homo sapiens keratin associated protein 10-2 (KRTAP10-2), mRNA.	79	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						TGCTGGCAGCACGAGGGCGTG	0.692													6	220					0	0	1	0	0	G	45971107	A	G	45971107	3	3	146	1	0	0	0	0	1	0	0	0	8509	159	6	3	536	3	KRTAP10-2	21	45971107	Missense_Mutation	SNP	A	TCGA-FG-8185-01A-11D-2253-08		45971107	2158788	58	6652											
ATRX	546	broad.mit.edu	37	chrX	76939914	76939915	+	Frame_Shift_Del	DEL	AG	AG	-																															tcaaatacgctgttacatgcAgtgaccaagtccaacaaagg																										TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chrX:76939914_76939915delAG	uc004ecp.4	-	8	1065_1066	c.833_834delCT	c.(832-834)actfs	p.T278fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.T240fs|ATRX_uc004eco.4_Frame_Shift_Del_p.T63fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.T239fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.T278fs|ATRX_uc010nly.1_Frame_Shift_Del_p.T223fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	278	ADD.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TGTTACATGCAGTGACCAAGTC	0.371			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						70	21	---	---	---	---						-	76939915	AG	-	76939914	7	5	146	1	0	1	0	1	0	0	0	0	1208	175	7	0	6752	0	ATRX	23	76939914	Frame_Shift_Del	DEL	AG	TCGA-FG-8185-01A-11D-2253-08		76939914	78330646	59	6653											
FRMD7	90167	broad.mit.edu	37	chrX	131214292	131214292	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aaagttgcctttgggttcgtCcactatcataaggaacaata	13	12	8	8	1	1	0	1	0	0	0	3	1	2	1	2	2	2	2	2	2	6	6			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chrX:131214292C>G	uc004ewn.3	-	9	1086	c.908G>C	c.(907-909)gGa>gCa	p.G303A	FRMD7_uc022cdy.1_Missense_Mutation_p.G183A|FRMD7_uc011muy.2_Missense_Mutation_p.G288A	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	303					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TTGGGTTCGTCCACTATCATA	0.373													3	12					0	0	1	0	0	G	131214292	C	G	131214292	3	3	146	1	0	0	0	0	1	0	0	0	6055	855	30	5	1248	5	FRMD7	23	131214292	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08	54274378	131214292	24056268	60	6654											
PLXNA3	55558	broad.mit.edu	37	chrX	153688564	153688565	+	Frame_Shift_Ins	INS	-	-	G																															ctgctgctcttccttgccgtINSggggggggccctgggcaaca																										TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chrX:153688564_153688565insG	uc004flm.3	+	1	214_215	c.41_42insG	c.(40-42)gtgfs	p.V14fs		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	14					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.A17fs*39(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCCTTGCCGTGGGGGGGGCCC	0.683													7	72	---	---	---	---						G	153688565	-	G	153688564	7	5	146	1	0	1	1	0	0	0	0	0	12121	1696	59	0	43	0	PLXNA3	23	153688564	Frame_Shift_Ins	INS	-	TCGA-FG-8185-01A-11D-2253-08	22474272	153688564	1581996	61	6655											
DENND4B	9909	broad.mit.edu	37	chr1	153907309	153907309	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgttgccg	0	15	14	12	1	0	0	0	0	0	0	0	0	0	0	1	0	11	12	1	0	0	2			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr1:153907309C>T	uc001fdd.1	-	17	3101	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q		NM_014856	NP_055671	O75064	DEN4B_HUMAN	Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA.	900	Gln-rich.							p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642													4	67					0	0	1	0	0	T	153907309	C	T	153907309	2	4	147	1	0	0	0	0	0	0	0	1	4434	796	28	3		3	DENND4B	1	153907309	Silent	SNP	C	TCGA-FG-8186-01A-11D-2253-08		153907309	95343312	1	6656											
FAM123C	205147	broad.mit.edu	37	chr2	131521709	131521709	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccctgaagatcagctcaaaCgaacagcccccggccgcatg	11	4	10	16	3	2	2	2	1	0	1	2	3	2	2	4	1	4	2	4	1	3	0			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr2:131521709C>T	uc021voy.1	+	0	2064	c.2064C>T	c.(2062-2064)aaC>aaT	p.N688N	FAM123C_uc002trw.2_Silent_p.N688N|FAM123C_uc010fmv.2_Silent_p.N688N|FAM123C_uc010fms.1_Silent_p.N688N|FAM123C_uc010fmt.1_Silent_p.N688N|FAM123C_uc010fmu.1_Silent_p.N688N	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	688										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		TCAGCTCAAACGAACAGCCCC	0.652													10	6					0	0	1	0	0	T	131521709	C	T	131521709	2	4	147	1	0	0	0	0	0	0	0	1	5424	535	19	1		1	FAM123C	2	131521709	Silent	SNP	C	TCGA-FG-8186-01A-11D-2253-08		131521709	111677664	2	6657											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								32	74					0	0	1	0	0	T	209113112	C	T	209113112	3	4	147	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08	77591403	209113112	34086261	3	6658											
SETMAR	6419	broad.mit.edu	37	chr3	4358185	4358185	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaagttgctgaagaactcaAtgtcaaccattctacggtcg	13	10	9	9	2	3	3	2	1	1	2	4	3	3	3	1	1	4	2	1	1	6	3			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr3:4358185A>G	uc011asp.2	+	2	1377	c.1310A>G	c.(1309-1311)aAt>aGt	p.N437S	SUMF1_uc003bps.2_Intron|SETMAR_uc011asq.2_Missense_Mutation_p.N298S|SETMAR_uc003bpy.4_Missense_Mutation_p.N159S|SETMAR_uc011asr.2_Missense_Mutation_p.N181S|SETMAR_uc010hbx.3_Missense_Mutation_p.N232S	NM_006515	NP_006506	Q53H47	SETMR_HUMAN	Homo sapiens SET domain and mariner transposase fusion gene (SETMAR), transcript variant 1, mRNA.	424	Mariner transposase Hsmar1.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		gaagaactcaatgtcaaccat	0.448								Chromatin Structure					6	13					0	0	1	0	0	G	4358185	A	G	4358185	3	3	147	1	0	0	0	0	1	0	0	0	14140	101	4	3	1320	3	SETMAR	3	4358185	Missense_Mutation	SNP	A	TCGA-FG-8186-01A-11D-2253-08		4358185	193664245	4	6659											
CLDN16	10686	broad.mit.edu	37	chr3	190120187	190120187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatgcttttgatgggattcGcacctgtgatgagtacgatt	10	14	11	6	2	0	3	0	3	0	0	1	5	0	4	1	1	2	3	1	1	2	5			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr3:190120187G>A	uc003fsi.3	+	1	634	c.386G>A	c.(385-387)cGc>cAc	p.R129H	CLDN16_uc010hze.3_Intron	NM_006580	NP_006571	Q9Y5I7	CLD16_HUMAN	Homo sapiens claudin 16 (CLDN16), mRNA.	129					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity	p.R129C(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		GATGGGATTCGCACCTGTGAT	0.488													21	161					0	0	1	0	0	A	190120187	G	A	190120187	3	1	147	1	0	0	0	0	1	0	0	0	3477	1087	38	1	392	1	CLDN16	3	190120187	Missense_Mutation	SNP	G	TCGA-FG-8186-01A-11D-2253-08	185762002	190120187	7902243	5	6660											
DKK2	27123	broad.mit.edu	37	chr4	107956552	107956552	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtttttgcccttcttaCtgccgccgaatgccagtcct	5	13	8	15	2	1	0	0	0	1	0	2	1	2	0	6	1	4	1	6	1	2	4			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr4:107956552C>G	uc003hyi.3	-	0	902	c.197G>C	c.(196-198)aGt>aCt	p.S66T	DKK2_uc010ilw.1_Intron|DKK2_uc003hyj.1_Missense_Mutation_p.S66T	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	66					Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway	extracellular space		p.G65S(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GCCCTTCTTACTGCCGCCGAA	0.577													4	74					0	0	1	0	0	G	107956552	C	G	107956552	3	3	147	1	0	0	0	0	1	0	0	0	4545	565	20	5	598	5	DKK2	4	107956552	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08		107956552	83197724	6	6661											
GUCY1A3	2982	broad.mit.edu	37	chr4	156631972	156631972	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgattcttcccggcatcAtaaaggcagctgctcacgta	9	10	8	14	2	3	1	2	1	1	0	4	1	4	1	2	2	2	5	2	2	3	4			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr4:156631972A>G	uc003iov.3	+	6	1191	c.655A>G	c.(655-657)Ata>Gta	p.I219V	GUCY1A3_uc003iou.2_Missense_Mutation_p.I219V|GUCY1A3_uc010iqc.2_Missense_Mutation_p.I219V|GUCY1A3_uc010iqd.3_Missense_Mutation_p.I218V|GUCY1A3_uc003iow.3_Missense_Mutation_p.I219V|GUCY1A3_uc003iox.3_Missense_Mutation_p.I219V|GUCY1A3_uc010iqe.3_5'UTR|GUCY1A3_uc003ioy.3_Missense_Mutation_p.I219V|GUCY1A3_uc003ioz.3_5'UTR|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Missense_Mutation_p.I219V	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	219					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TCCCGGCATCATAAAGGCAGC	0.458													38	84					0	0	1	0	0	G	156631972	A	G	156631972	3	3	147	1	0	0	0	0	1	0	0	0	6894	217	8	3	669	3	GUCY1A3	4	156631972	Missense_Mutation	SNP	A	TCGA-FG-8186-01A-11D-2253-08	48675420	156631972	34522304	7	6662											
OR2Y1	134083	broad.mit.edu	37	chr5	180166657	180166657	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagagatgggggtgcatgatGgccatgtagtggagtggacg	9	8	19	5	1	0	2	0	1	0	1	0	5	0	4	1	5	1	2	1	5	1	1			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr5:180166657G>T	uc003mmf.1	-	0	402	c.402C>A	c.(400-402)gcC>gcA	p.A134A		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTGCATGATGGCCATGTAGT	0.587													3	64					1	1	1	1	0	T	180166657	G	T	180166657	2	4	147	1	0	0	0	0	0	0	0	1	11035	1335	47	5		5	OR2Y1	5	180166657	Silent	SNP	G	TCGA-FG-8186-01A-11D-2253-08		180166657	748603	8	6663											
BTNL8	79908	broad.mit.edu	37	chr5	180338435	180338435	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggttcccccggcccacagCgaagtggaaaggtccacaag	10	5	12	14	2	0	0	0	0	0	0	2	2	2	1	4	4	1	1	4	4	3	1			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr5:180338435C>T	uc003mmp.3	+	2	728	c.494C>T	c.(493-495)gCg>gTg	p.A165V	BTNL8_uc003mmq.3_Missense_Mutation_p.A165V|BTNL8_uc010jll.3_Missense_Mutation_p.A165V|BTNL8_uc011dhg.2_Missense_Mutation_p.A40V|BTNL8_uc010jlm.3_Missense_Mutation_p.A49V|BTNL8_uc011dhh.2_5'UTR	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	165	Ig-like V-type 2.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGCCCACAGCGAAGTGGAAA	0.537													14	268					0	0	1	0	0	T	180338435	C	T	180338435	3	4	147	1	0	0	0	0	1	0	0	0	1567	768	27	1	530	1	BTNL8	5	180338435	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08	171778	180338435	576825	9	6664											
PHF3	23469	broad.mit.edu	37	chr6	64394227	64394227	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagaatagaaggtgcagcCgaaatagcggacaaattgaa	18	5	13	5	2	0	3	0	1	0	2	0	6	0	4	1	3	3	1	1	3	7	3			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr6:64394227C>T	uc003pep.1	+	2	629	c.604C>T	c.(604-606)Cga>Tga	p.R202*	PHF3_uc010kaf.1_Nonsense_Mutation_p.R202*|PHF3_uc003pem.2_Nonsense_Mutation_p.R155*|PHF3_uc010kag.1_Nonsense_Mutation_p.R114*|PHF3_uc010kah.1_Nonsense_Mutation_p.R16*|PHF3_uc003pen.2_Nonsense_Mutation_p.R114*|PHF3_uc011dxs.1_Intron|PHF3_uc003peo.3_Nonsense_Mutation_p.R202*	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	202					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAGGTGCAGCCGAAATAGCGG	0.403													34	75					0	0	1	0	0	T	64394227	C	T	64394227	4	4	147	1	0	0	0	0	0	1	0	0	11836	644	23	2	614	2	PHF3	6	64394227	Nonsense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08		64394227	106720840	10	6665											
DPY19L1	23333	broad.mit.edu	37	chr7	34977700	34977700	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcttcggctgctttccgacTatacattgagtatactattt	8	18	6	9	2	1	1	0	1	1	0	3	2	2	1	1	1	3	3	1	1	5	10			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr7:34977700T>A	uc003tem.4	-	20	1922	c.1777A>T	c.(1777-1779)Agt>Tgt	p.S593C	DPY19L1_uc003tel.1_Non-coding_Transcript	NM_015283	NP_056098	Q2PZI1	D19L1_HUMAN	Homo sapiens dpy-19-like 1 (C. elegans) (DPY19L1), mRNA.	593						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						GCTTTCCGACTATACATTGAG	0.328													18	17					0	0	1	0	0	A	34977700	T	A	34977700	3	1	147	1	0	0	0	0	1	0	0	0	4740	1522	53	5	258	5	DPY19L1	7	34977700	Missense_Mutation	SNP	T	TCGA-FG-8186-01A-11D-2253-08		34977700	124160963	11	6666											
H2AFV	94239	broad.mit.edu	37	chr7	44875212	44875212	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagtgacgcggagtgatacGctttactttgagatccttag	10	12	11	8	3	0	3	0	3	0	1	1	5	1	4	1	1	2	1	1	1	4	5			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr7:44875212G>T	uc003tma.2	-	3	396	c.241C>A	c.(241-243)Cgt>Agt	p.R81S	H2AFV_uc003tlz.2_Missense_Mutation_p.R81S|H2AFV_uc003tmb.2_Missense_Mutation_p.R43S|H2AFV_uc003tmc.2_Intron|H2AFV_uc003tmd.2_Missense_Mutation_p.R55S	NM_012412	NP_036544	Q71UI9	H2AV_HUMAN	Homo sapiens H2A histone family, member V (H2AFV), transcript variant 1, mRNA.	81					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	9						GGAGTGATACGCTTTACTTTG	0.448													3	73					1	1	1	1	0	T	44875212	G	T	44875212	3	4	147	1	0	0	0	0	1	0	0	0	6927	1087	38	5	177	5	H2AFV	7	44875212	Missense_Mutation	SNP	G	TCGA-FG-8186-01A-11D-2253-08	9897512	44875212	114263451	12	6667											
FLNC	2318	broad.mit.edu	37	chr7	128480693	128480693	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgcctgggaagtatgtggtGaccatcacgtggggcggcta	7	9	17	8	2	1	1	1	1	0	0	1	2	1	2	2	5	1	2	2	5	3	2			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr7:128480693G>A	uc003vnz.4	+	9	1850	c.1641G>A	c.(1639-1641)gtG>gtA	p.V547V	FLNC_uc003voa.4_Silent_p.V547V	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	547					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGTATGTGGTGACCATCACGT	0.637													6	472					0	0	1	0	0	A	128480693	G	A	128480693	2	1	147	1	0	0	0	0	0	0	0	1	5935	1277	45	3		3	FLNC	7	128480693	Silent	SNP	G	TCGA-FG-8186-01A-11D-2253-08	83605481	128480693	30657970	13	6668											
TSPAN33	340348	broad.mit.edu	37	chr7	128804343	128804343	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaagtgagtgagatcatcaAcaatgccattgtgcactacc	14	9	9	9	0	2	2	2	2	0	1	2	4	2	2	2	0	4	1	2	0	4	2			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr7:128804343A>G	uc003vop.2	+	4	501	c.392A>G	c.(391-393)aAc>aGc	p.N131S	TSPAN33_uc003voq.2_5'Flank	NM_178562	NP_848657	Q86UF1	TSN33_HUMAN	Homo sapiens tetraspanin 33 (TSPAN33), mRNA.	131						integral to membrane				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						GAGATCATCAACAATGCCATT	0.493											OREG0018304	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	120	168					0	0	1	0	0	G	128804343	A	G	128804343	3	3	147	1	0	0	0	0	1	0	0	0	16645	43	2	3	410	3	TSPAN33	7	128804343	Missense_Mutation	SNP	A	TCGA-FG-8186-01A-11D-2253-08	323650	128804343	30334320	14	6669											
TBXAS1	6916	broad.mit.edu	37	chr7	139529240	139529240	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaatggccccatggtgacGgtggccctgtcagtggctct	5	10	15	11	1	2	2	1	2	1	0	2	2	2	2	3	5	0	1	3	5	1	0			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr7:139529240G>A	uc011kqv.2	+	0	289	c.54G>A	c.(52-54)acG>acA	p.T18T	TBXAS1_uc003vvh.3_Silent_p.T18T|TBXAS1_uc010lne.3_Intron|TBXAS1_uc011kqu.2_Silent_p.T18T|TBXAS1_uc003vvi.3_Silent_p.T18T|TBXAS1_uc011kqw.2_5'UTR|TBXAS1_uc003vvj.3_Silent_p.T18T|TBXAS1_uc011kqx.1_Silent_p.T18T	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	17					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CCATGGTGACGGTGGCCCTGT	0.572													3	59					0	0	1	0	0	A	139529240	G	A	139529240	2	1	147	1	0	0	0	0	0	0	0	1	15661	1103	39	2		2	TBXAS1	7	139529240	Silent	SNP	G	TCGA-FG-8186-01A-11D-2253-08	10724897	139529240	19609423	15	6670											
PARP12	64761	broad.mit.edu	37	chr7	139724493	139724493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caaagatcacaaagatggagGggtcggacacactgttcacg	14	6	12	9	2	2	2	2	0	0	2	3	4	2	4	0	4	0	1	0	4	2	1			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr7:139724493G>A	uc003vvl.1	-	11	2847	c.1973C>T	c.(1972-1974)cCc>cTc	p.P658L	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	658	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					AAAGATGGAGGGGTCGGACAC	0.577													5	184					0	0	1	0	0	A	139724493	G	A	139724493	3	1	147	1	0	0	0	0	1	0	0	0	11457	1232	43	3	136	3	PARP12	7	139724493	Missense_Mutation	SNP	G	TCGA-FG-8186-01A-11D-2253-08	195253	139724493	19414170	16	6671											
CCIN	881	broad.mit.edu	37	chr9	36170121	36170121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcaattgggtgtacttcCggaaggaggatcgggagaag	11	9	15	6	2	2	1	2	0	0	1	4	5	3	4	1	5	1	1	1	5	4	3			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr9:36170121C>T	uc003zzb.4	+	0	733	c.622C>T	c.(622-624)Cgg>Tgg	p.R208W		NM_005893	NP_005884	Q13939	CALI_HUMAN	Homo sapiens calicin (CCIN), mRNA.	208	BACK.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GGTGTACTTCCGGAAGGAGGA	0.488													17	32					0	0	1	0	0	T	36170121	C	T	36170121	3	4	147	1	0	0	0	0	1	0	0	0	2878	643	23	2	624	2	CCIN	9	36170121	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08		36170121	105043310	17	6672											
ALDH1A1	216	broad.mit.edu	37	chr9	75520934	75520934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcactgggcacttaccacgCcatagcaattcaccctgaag	11	7	9	14	1	1	1	1	1	0	0	1	1	1	1	3	2	2	3	3	2	4	3			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr9:75520934C>T	uc004ajd.3	-	11	1690	c.1373G>A	c.(1372-1374)gGc>gAc	p.G458D	ALDH1A1_uc011lsh.2_Missense_Mutation_p.G379D|ALDH1A1_uc011lsg.2_Missense_Mutation_p.G284D	NM_000689	NP_000680	P00352	AL1A1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A1 (ALDH1A1), mRNA.	458					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	Ras GTPase activator activity|aldehyde dehydrogenase (NAD) activity|androgen binding|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	ACTTACCACGCCATAGCAATT	0.343													14	39					0	0	1	0	0	T	75520934	C	T	75520934	3	4	147	1	0	0	0	0	1	0	0	0	490	739	26	3	140	3	ALDH1A1	9	75520934	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08	39350813	75520934	65692497	18	6673											
NOTCH1	4851	broad.mit.edu	37	chr9	139412245	139412245	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccccaatctggtccaggCaggtggcgtcgttctggcac	6	9	12	14	2	2	0	0	0	2	0	5	0	4	0	3	5	0	3	3	5	1	1			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr9:139412245C>A	uc004chz.3	-	7	1400	c.1400G>T	c.(1399-1401)tGc>tTc	p.C467F		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	467	EGF-like 12; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTGGTCCAGGCAGGTGGCGTC	0.677			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			5	104					0.217242	0.224484	1	1	0	A	139412245	C	A	139412245	3	1	147	1	0	0	0	0	1	0	0	0	10547	710	25	5	6375	5	NOTCH1	9	139412245	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08	63891311	139412245	1801186	19	6674											
DPP7	29952	broad.mit.edu	37	chr9	140006206	140006206	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgctggcggctctgagaTctgcaaggggcagagaaagt	9	9	16	7	1	2	2	0	1	2	2	2	4	2	2	0	4	2	5	0	4	2	1			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr9:140006206T>C	uc004clh.3	-	11	1238	c.1208_splice	c.e11-1	p.D403_splice		NM_013379	NP_037511	Q9UHL4	DPP2_HUMAN	Homo sapiens dipeptidyl-peptidase 7 (DPP7), mRNA.	403						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		GGCTCTGAGATCTGCAAGGGG	0.652													3	82					0	0	1	0	0	C	140006206	T	C	140006206	5	2	147	1	0	0	0	0	0	0	1	0	4731	1449	50	3	282	3	DPP7	9	140006206	Splice_Site	SNP	T	TCGA-FG-8186-01A-11D-2253-08	593961	140006206	1207225	20	6675											
LOXL4	84171	broad.mit.edu	37	chr10	100012144	100012144	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcctccagacagaagctGgccttgtgcccctcagccac	7	8	10	16	0	1	2	1	0	0	2	3	2	3	2	6	1	3	1	6	1	1	1			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr10:100012144G>A	uc001kpa.1	-	11	2068	c.1917C>T	c.(1915-1917)gcC>gcT	p.A639A		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	Homo sapiens lysyl oxidase-like 4 (LOXL4), mRNA.	639	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GACAGAAGCTGGCCTTGTGCC	0.532													22	203					0	0	1	0	0	A	100012144	G	A	100012144	2	1	147	1	0	0	0	0	0	0	0	1	8902	1335	47	3		3	LOXL4	10	100012144	Silent	SNP	G	TCGA-FG-8186-01A-11D-2253-08		100012144	35522603	21	6676											
ARNTL	406	broad.mit.edu	37	chr11	13402768	13402768	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaacatcacgagtacgccTccccctgatgcctcttctcc	7	11	6	17	2	3	2	1	2	2	0	5	3	4	2	5	0	3	1	5	0	2	3			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr11:13402768T>C	uc001mkr.3	+	17	1992	c.1584T>C	c.(1582-1584)ccT>ccC	p.P528P	ARNTL_uc001mko.3_Silent_p.P484P|ARNTL_uc001mkp.3_Silent_p.P527P|ARNTL_uc001mkq.3_Silent_p.P527P|ARNTL_uc001mks.3_Silent_p.P485P|ARNTL_uc001mkt.3_Silent_p.P528P|ARNTL_uc001mkw.3_Silent_p.P485P|ARNTL_uc001mkx.3_Silent_p.P526P|ARNTL_uc001mky.3_Silent_p.P66P	NM_001178	NP_001169	O00327	BMAL1_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like (ARNTL), transcript variant 1, mRNA.	528					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|Hsp90 protein binding|aryl hydrocarbon receptor binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		CGAGTACGCCTCCCCCTGATG	0.488													3	152					0	0	1	0	0	C	13402768	T	C	13402768	2	2	147	1	0	0	0	0	0	0	0	1	967	1538	54	4		4	ARNTL	11	13402768	Silent	SNP	T	TCGA-FG-8186-01A-11D-2253-08		13402768	121603748	22	6677											
NR1H3	10062	broad.mit.edu	37	chr11	47281984	47281984	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgtccacaaaagcggaaaaAggggccagcccccaaaatgc	15	2	10	14	2	0	0	0	0	0	0	1	1	1	1	5	3	3	0	5	3	6	0			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr11:47281984A>G	uc009ylm.3	+	3	507	c.257A>G	c.(256-258)aAg>aGg	p.K86R	NR1H3_uc010rhk.2_Missense_Mutation_p.K92R|NR1H3_uc009yll.2_Missense_Mutation_p.K92R|NR1H3_uc001nek.3_Missense_Mutation_p.K41R|NR1H3_uc001nen.4_Missense_Mutation_p.K86R|NR1H3_uc001nem.3_Missense_Mutation_p.K86R	NM_005693	NP_005684	Q13133	NR1H3_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 3 (NR1H3), transcript variant 1, mRNA.	86					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						AAGCGGAAAAAGGGGCCAGCC	0.567													4	103					0	0	1	0	0	G	47281984	A	G	47281984	3	3	147	1	0	0	0	0	1	0	0	0	10618	72	3	4	267	4	NR1H3	11	47281984	Missense_Mutation	SNP	A	TCGA-FG-8186-01A-11D-2253-08	33879216	47281984	87724532	23	6678											
FNBP4	23360	broad.mit.edu	37	chr11	47755624	47755624	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttggagatggattgtctatTaatgcctagaaactcgaatt	12	14	10	5	1	1	2	0	0	1	2	2	5	1	3	1	2	2	1	1	2	5	6			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr11:47755624T>C	uc009ylv.3	-	9	1792	c.1639A>G	c.(1639-1641)Aat>Gat	p.N547D	FNBP4_uc001ngj.3_Missense_Mutation_p.N454D|FNBP4_uc001ngl.2_Non-coding_Transcript	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	Homo sapiens formin binding protein 4 (FNBP4), mRNA.	547										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GATTGTCTATTAATGCCTAGA	0.328													21	38					0	0	1	0	0	C	47755624	T	C	47755624	3	2	147	1	0	0	0	0	1	0	0	0	5967	1754	61	3	1446	3	FNBP4	11	47755624	Missense_Mutation	SNP	T	TCGA-FG-8186-01A-11D-2253-08	473640	47755624	87250892	24	6679											
RBM4B	83759	broad.mit.edu	37	chr11	66436387	66436387	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcaacagaagtagagttgAggtggctggtcacagttgtg	11	10	15	5	0	2	3	2	1	0	2	2	4	2	3	0	3	1	4	0	3	3	3			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr11:66436387A>G	uc001oja.3	-	1	1457	c.788T>C	c.(787-789)cTc>cCc	p.L263P	RBM4B_uc001ojb.3_Missense_Mutation_p.L263P	NM_031492	NP_113680	Q9BQ04	RBM4B_HUMAN	Homo sapiens RNA binding motif protein 4B (RBM4B), mRNA.	263	Interaction with TNPO3 (By similarity).				RNA splicing|circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing	nucleolus	RNA binding|nucleotide binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						AGTAGAGTTGAGGTGGCTGGT	0.562													3	141					0	0	1	0	0	G	66436387	A	G	66436387	3	3	147	1	0	0	0	0	1	0	0	0	13142	304	11	4	295	4	RBM4B	11	66436387	Missense_Mutation	SNP	A	TCGA-FG-8186-01A-11D-2253-08	18680763	66436387	68570129	25	6680											
PCF11	51585	broad.mit.edu	37	chr11	82877743	82877743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaagatggaaatctggttggGaagaaaataaaaggtatgat	19	9	12	1	0	1	3	0	1	1	2	1	5	1	5	0	4	0	2	0	4	8	3			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr11:82877743G>A	uc001ozx.4	+	4	2149	c.1804G>A	c.(1804-1806)Gaa>Aaa	p.E602K	PCF11_uc010rsu.1_Missense_Mutation_p.E602K	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	602					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ATCTGGTTGGGAAGAAAATAA	0.318													27	46					0	0	1	0	0	A	82877743	G	A	82877743	3	1	147	1	0	0	0	0	1	0	0	0	11573	1175	41	3	1822	3	PCF11	11	82877743	Missense_Mutation	SNP	G	TCGA-FG-8186-01A-11D-2253-08	16441356	82877743	52128773	26	6681											
MLL	4297	broad.mit.edu	37	chr11	118390456	118390456	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacaagccagaggaggccaAtgaaccccccttgaaccctc	12	4	8	17	0	0	3	0	2	0	1	1	4	0	4	7	2	3	0	7	2	4	1			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr11:118390456A>G	uc001pta.3	+	31	11284	c.11261A>G	c.(11260-11262)aAt>aGt	p.N3754S	MLL_uc001ptb.3_Missense_Mutation_p.N3757S	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	3754					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	p.N3754S(2)|p.N3757S(1)		breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GAGGAGGCCAATGAACCCCCC	0.507			"T, O"	"MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"	"AML, ALL"								4	116					0	0	1	0	0	G	118390456	A	G	118390456	3	3	147	1	0	0	0	0	1	0	0	0	9620	101	4	3	11387	3	MLL	11	118390456	Missense_Mutation	SNP	A	TCGA-FG-8186-01A-11D-2253-08	35512713	118390456	16616060	27	6682											
DBX2	440097	broad.mit.edu	37	chr12	45410365	45410365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttttctttggaattccGccatttcatcctcctgttct	4	20	4	13	1	3	0	1	0	2	0	7	1	7	1	5	1	0	1	5	1	1	7			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr12:45410365G>A	uc001rok.1	-	3	896	c.724C>T	c.(724-726)Cgg>Tgg	p.R242W		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	Homo sapiens developing brain homeobox 2 (DBX2), mRNA.	242						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		TTGGAATTCCGCCATTTCATC	0.403													13	140					0	0	1	0	0	A	45410365	G	A	45410365	3	1	147	1	0	0	0	0	1	0	0	0	4260	1086	38	1	299	1	DBX2	12	45410365	Missense_Mutation	SNP	G	TCGA-FG-8186-01A-11D-2253-08		45410365	88441530	28	6683											
RNF17	56163	broad.mit.edu	37	chr13	25428134	25428134	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgacataatcagtgaacaGaaagtgtctgaatttcagga	15	10	10	6	0	3	4	2	3	1	1	3	5	3	5	0	1	1	1	0	1	4	2			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr13:25428134G>A	uc001upr.3	+	24	3503	c.3462G>A	c.(3460-3462)caG>caA	p.Q1154Q	RNF17_uc010tdd.1_Silent_p.Q1013Q|RNF17_uc010tde.2_Silent_p.Q1150Q|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Silent_p.Q1093Q|RNF17_uc010aac.3_Silent_p.Q352Q|RNF17_uc010aad.3_Silent_p.Q206Q	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	1154					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TCAGTGAACAGAAAGTGTCTG	0.403													26	34					0	0	1	0	0	A	25428134	G	A	25428134	2	1	147	1	0	0	0	0	0	0	0	1	13461	933	33	3		3	RNF17	13	25428134	Silent	SNP	G	TCGA-FG-8186-01A-11D-2253-08		25428134	89741744	29	6684											
CCDC70	83446	broad.mit.edu	37	chr13	52439604	52439604	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcttccggtccctggcGgcatcctctcccagtattcg	3	11	10	17	3	1	0	0	0	1	0	6	0	4	0	5	3	1	3	5	3	1	3	rs112168960		TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr13:52439604G>A	uc010tgr.1	-	0		c.616C>T			CCDC70_uc001vfu.4_Silent_p.A30A|CCDC70_uc021rjv.1_Silent_p.A30A			Q6NSX1	CCD70_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100022601 3' read CCDC70 mRNA.							extracellular region|plasma membrane		p.A30A(1)		breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GGTCCCTGGCGGCATCCTCTC	0.507													14	126					0	0	1	0	0	A	52439604	G	A	52439604	1	1	147	0	1	0	0	0	0	0	0	0	2843	1103	39	2		2	CCDC70	13	52439604	RNA	SNP	G	TCGA-FG-8186-01A-11D-2253-08	27011470	52439604	62730274	30	6685											
CDKN3	1033	broad.mit.edu	37	chr14	54884631	54884631	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaagccatagacagcctgCgagacctaagaggatccggg	13	4	13	11	2	0	3	0	0	0	3	1	5	1	4	4	2	4	1	4	2	3	2			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr14:54884631C>T	uc001xap.3	+	6	628	c.514C>T	c.(514-516)Cga>Tga	p.R172*	CDKN3_uc001xar.3_Nonsense_Mutation_p.R132*|CDKN3_uc010aoj.2_Non-coding_Transcript	NM_005192	NP_005183	Q16667	CDKN3_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 3 (CDKN3), transcript variant 1, mRNA.	172					G1/S transition of mitotic cell cycle|cell cycle arrest|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	perinuclear region of cytoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(2)|stomach(1)	3						AGACAGCCTGCGAGACCTAAG	0.458													9	15					0	0	1	0	0	T	54884631	C	T	54884631	4	4	147	1	0	0	0	0	0	1	0	0	3167	760	27	1	540	1	CDKN3	14	54884631	Nonsense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08		54884631	52464909	31	6686											
CLMN	79789	broad.mit.edu	37	chr14	95670323	95670323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccatcctgcctcaatgattCctttgccactcttgggctcc	5	14	6	16	0	2	1	1	1	1	0	6	1	6	1	6	1	2	1	6	1	1	3			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr14:95670323C>T	uc001yef.2	-	8	1479	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	455						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CTCAATGATTCCTTTGCCACT	0.468													14	37					0	0	1	0	0	T	95670323	C	T	95670323	3	4	147	1	0	0	0	0	1	0	0	0	3542	864	30	3	1665	3	CLMN	14	95670323	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08	40785692	95670323	11679217	32	6687											
HDC	3067	broad.mit.edu	37	chr15	50534698	50534698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactgttgcaactgagggagCgcaccgtcttcttcttagtc	7	12	10	12	2	3	1	0	1	3	0	4	2	3	2	1	1	3	3	1	1	2	4			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr15:50534698C>T	uc001zxz.3	-	11	2090	c.1748G>A	c.(1747-1749)cGc>cAc	p.R583H	HDC_uc001zxy.3_Missense_Mutation_p.R326H|HDC_uc010uff.2_Missense_Mutation_p.R550H	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	583					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.R583L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	ACTGAGGGAGCGCACCGTCTT	0.542													91	173					0	0	1	0	0	T	50534698	C	T	50534698	3	4	147	1	0	0	0	0	1	0	0	0	7015	768	27	1	244	1	HDC	15	50534698	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08		50534698	51996694	33	6688											
GGT6	124975	broad.mit.edu	37	chr17	4463042	4463042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaggttccgggcagccCgccagccttgttcctgcaga	5	7	13	16	2	0	1	0	0	0	1	2	1	2	1	6	3	3	4	6	3	0	3			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr17:4463042C>T	uc010vsc.2	-	1	214	c.154G>A	c.(154-156)Ggg>Agg	p.G52R	GGT6_uc010vsb.2_5'UTR|GGT6_uc002fyd.4_Missense_Mutation_p.G52R|GGT6_uc002fyc.4_Missense_Mutation_p.G52R	NM_001122890	NP_001116362	Q6P531	GGT6_HUMAN	Homo sapiens gamma-glutamyltransferase 6 (GGT6), transcript variant 1, mRNA.	52					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	p.G52W(2)		endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CCGGGCAGCCCGCCAGCCTTG	0.652													7	41					0	0	1	0	0	T	4463042	C	T	4463042	3	4	147	1	0	0	0	0	1	0	0	0	6363	652	23	2	1339	2	GGT6	17	4463042	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08		4463042	76732168	34	6689											
KRT35	3886	broad.mit.edu	37	chr17	39635168	39635168	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctcatctcctccagaactCggttcaggtcaacaggtggg	9	9	10	13	1	4	1	3	0	1	1	7	1	5	1	3	4	2	1	3	4	2	1			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr17:39635168C>T	uc002hws.3	-	3	834	c.791G>A	c.(790-792)cGa>cAa	p.R264Q		NM_002280	NP_002271	Q92764	KRT35_HUMAN	Homo sapiens keratin 35 (KRT35), mRNA.	264	Coil 2.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CTCCAGAACTCGGTTCAGGTC	0.552													6	77					0	0	1	0	0	T	39635168	C	T	39635168	3	4	147	1	0	0	0	0	1	0	0	0	8472	884	31	2	592	2	KRT35	17	39635168	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08	35172126	39635168	41560042	35	6690											
STAT5B	6777	broad.mit.edu	37	chr17	40384082	40384082	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgggaaaatgctggccatAtaacgcttgcatctgatgaa	14	10	10	7	1	1	2	0	2	1	0	1	3	1	3	1	2	3	3	1	2	6	3			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr17:40384082A>T	uc002hzh.3	-	1	233	c.64T>A	c.(64-66)Tat>Aat	p.Y22N	STAT5B_uc002hzi.3_Missense_Mutation_p.Y22N	NM_012448	NP_036580	P51692	STA5B_HUMAN	Homo sapiens signal transducer and activator of transcription 5B (STAT5B), mRNA.	22					2-oxoglutarate metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TGCTGGCCATATAACGCTTGC	0.443													5	98					0	0	1	0	0	T	40384082	A	T	40384082	3	4	147	1	0	0	0	0	1	0	0	0	15268	449	16	5	2371	5	STAT5B	17	40384082	Missense_Mutation	SNP	A	TCGA-FG-8186-01A-11D-2253-08	748914	40384082	40811128	36	6691											
DDX5	1655	broad.mit.edu	37	chr17	62498337	62498337	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accatggatacccatggcagGccacctaagttaaaagacaa	16	6	8	11	0	0	1	0	0	0	1	0	2	0	2	4	3	1	2	4	3	5	3			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr17:62498337G>A	uc010deh.2	-	9	1142	c.1099C>T	c.(1099-1101)Cct>Tct	p.P367S	DDX5_uc002jek.2_Missense_Mutation_p.P367S|DDX5_uc002jej.2_Missense_Mutation_p.P262S|DDX5_uc010wqa.1_Missense_Mutation_p.P288S|MIR3064_uc021ubr.1_5'Flank|MIR5047_uc021ubs.1_5'Flank	NM_004396	NP_004387	P17844	DDX5_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.	367	Helicase C-terminal.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|mRNA binding|protein binding|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CCCATGGCAGGCCACCTAAGT	0.398			T	ETV4	prostate								3	33					0	0	1	0	0	A	62498337	G	A	62498337	3	1	147	1	0	0	0	0	1	0	0	0	4367	1203	42	3	761	3	DDX5	17	62498337	Missense_Mutation	SNP	G	TCGA-FG-8186-01A-11D-2253-08	22114255	62498337	18696873	37	6692											
NOL4	8715	broad.mit.edu	37	chr18	31538334	31538334	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcctcagctcctcggtctaCactctcatttttgccagagt	6	14	7	14	1	3	1	2	0	2	1	7	1	5	1	3	1	3	1	3	1	1	3			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr18:31538334C>T	uc010dmi.3	-	6	1403	c.1105G>A	c.(1105-1107)Gta>Ata	p.V369I	NOL4_uc010xbs.2_Missense_Mutation_p.V84I|NOL4_uc002kxr.4_Missense_Mutation_p.V205I|NOL4_uc010xbt.2_Missense_Mutation_p.V295I|NOL4_uc010dmh.3_Missense_Mutation_p.V295I|NOL4_uc010xbu.2_Missense_Mutation_p.V369I|NOL4_uc002kxt.4_Missense_Mutation_p.V369I|NOL4_uc010xbv.1_Missense_Mutation_p.V118I	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	369						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CCTCGGTCTACACTCTCATTT	0.448													54	127					0	0	1	0	0	T	31538334	C	T	31538334	3	4	147	1	0	0	0	0	1	0	0	0	10524	478	17	3	831	3	NOL4	18	31538334	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08		31538334	46538914	38	6693											
PNMAL2	57469	broad.mit.edu	37	chr19	46998156	46998156	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctcggcctcactcctcgcGggagcagacggccgtcctcc	4	7	11	19	5	1	1	1	0	0	1	7	2	5	2	6	3	1	1	6	3	0	0			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr19:46998156G>A	uc002pes.2	-	0	1014	c.567C>T	c.(565-567)ccC>ccT	p.P189P	LOC100506012_uc021uwg.1_Intron|BC132841_uc002peu.1_Silent_p.A89A	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	Homo sapiens PNMA-like 2 (PNMAL2), mRNA.	189										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CACTCCTCGCGGGAGCAGACG	0.647													3	39					0	0	1	0	0	A	46998156	G	A	46998156	2	1	147	1	0	0	0	0	0	0	0	1	12158	1103	39	2		2	PNMAL2	19	46998156	Silent	SNP	G	TCGA-FG-8186-01A-11D-2253-08		46998156	12130827	39	6694											
BIRC8	112401	broad.mit.edu	37	chr19	53793157	53793157	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcattttctgtagtgtctttCtgagcgctcactagatctgc	6	17	8	10	1	6	2	2	1	4	1	6	2	6	2	0	0	2	2	0	0	2	5			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr19:53793157C>T	uc002qbk.3	-	0	1719	c.471G>A	c.(469-471)caG>caA	p.Q157Q		NM_033341	NP_203127	Q96P09	BIRC8_HUMAN	Homo sapiens baculoviral IAP repeat containing 8 (BIRC8), mRNA.	157					apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TAGTGTCTTTCTGAGCGCTCA	0.408													3	52					0	0	1	0	0	T	53793157	C	T	53793157	2	4	147	1	0	0	0	0	0	0	0	1	1440	912	32	3		3	BIRC8	19	53793157	Silent	SNP	C	TCGA-FG-8186-01A-11D-2253-08	6795001	53793157	5335826	40	6695											
CXorf22	170063	broad.mit.edu	37	chrX	35966455	35966455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atttaaggcagaataccacgGccaattacccatcctcattt	13	11	5	12	1	1	1	1	0	0	1	2	1	2	1	4	2	2	1	4	2	5	5			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chrX:35966455G>A	uc004ddj.3	+	3	608	c.542G>A	c.(541-543)gGc>gAc	p.G181D	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	181										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GAATACCACGGCCAATTACCC	0.413													60	116					0	0	1	0	0	A	35966455	G	A	35966455	3	1	147	1	0	0	0	0	1	0	0	0	4102	1203	42	3	556	3	CXorf22	23	35966455	Missense_Mutation	SNP	G	TCGA-FG-8186-01A-11D-2253-08		35966455	119304105	41	6696											
CXorf22	170063	broad.mit.edu	37	chrX	35993797	35993797	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgcattacaggtctttcaCctttacagtgaacaatgtac	11	13	7	10	0	2	1	1	1	1	0	2	1	2	1	1	1	5	3	1	1	5	5			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chrX:35993797C>A	uc004ddj.3	+	14	2546	c.2480C>A	c.(2479-2481)aCc>aAc	p.T827N	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	827								p.T827N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AGGTCTTTCACCTTTACAGTG	0.383													38	57					1.62957e-23	1.77252e-23	1	1	0	A	35993797	C	A	35993797	3	1	147	1	0	0	0	0	1	0	0	0	4102	507	18	5	2538	5	CXorf22	23	35993797	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08	27342	35993797	119276763	42	6697											
FAM47C	442444	broad.mit.edu	37	chrX	37027156	37027156	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgtcccatctccgcccaCagcctcccaagactcaggtg	8	7	9	17	1	2	1	1	0	1	1	5	2	4	1	5	1	1	0	5	1	1	0			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chrX:37027156C>G	uc004ddl.2	+	0	725	c.673C>G	c.(673-675)Cag>Gag	p.Q225E		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	225										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCCGCCCACAGCCTCCCAA	0.647													4	89					0	0	1	0	0	G	37027156	C	G	37027156	3	3	147	1	0	0	0	0	1	0	0	0	5571	479	17	5	675	5	FAM47C	23	37027156	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08	1033359	37027156	118243404	43	6698											
DDX3X	1654	broad.mit.edu	37	chrX	41202025	41202025	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcaacactgggattaattTtgagaaatacgatgacattc	15	11	9	6	1	0	2	0	2	0	1	1	5	0	3	0	2	2	1	0	2	4	5			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chrX:41202025T>C	uc004dfe.3	+	5	1334	c.479T>C	c.(478-480)tTt>tCt	p.F160S	DDX3X_uc010nhf.1_Missense_Mutation_p.F144S|DDX3X_uc011mks.2_Intron|DDX3X_uc004dff.3_Missense_Mutation_p.F160S|DDX3X_uc011mkq.2_Missense_Mutation_p.F144S|DDX3X_uc011mkr.2_Missense_Mutation_p.F160S|DDX3X_uc004dfg.3_Non-coding_Transcript|DDX3X_uc011mkt.1_Non-coding_Transcript	NM_001356	NP_001347	O00571	DDX3X_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA.	160					interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|protein binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						GGGATTAATTTTGAGAAATAC	0.368										HNSCC(61;0.18)			6	92					0	0	1	0	0	C	41202025	T	C	41202025	3	2	147	1	0	0	0	0	1	0	0	0	4358	1841	64	3	501	3	DDX3X	23	41202025	Missense_Mutation	SNP	T	TCGA-FG-8186-01A-11D-2253-08	4174869	41202025	114068535	44	6699											
SSX5	6758	broad.mit.edu	37	chrX	48053622	48053622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccctggaagtctgcgacccGtttattacgcatgaaaggtg	9	10	11	11	3	1	1	0	1	1	0	1	3	1	2	3	2	2	2	3	2	4	3			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chrX:48053622G>A	uc004diz.1	-	4	399	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	SSX5_uc004dja.1_Missense_Mutation_p.R75W	NM_021015	NP_066295	O60225	SSX5_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 5 (SSX5), transcript variant 1, mRNA.	75					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	p.R116L(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						TCTGCGACCCGTTTATTACGC	0.488													5	206					0	0	1	0	0	A	48053622	G	A	48053622	3	1	147	1	0	0	0	0	1	0	0	0	15207	1144	40	1	359	1	SSX5	23	48053622	Missense_Mutation	SNP	G	TCGA-FG-8186-01A-11D-2253-08	6851597	48053622	107216938	45	6700											
GRIA3	2892	broad.mit.edu	37	chrX	122598965	122598965	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaggctcagcattaaggTgggtggaataatataacaat	16	10	10	5	0	1	0	1	0	0	0	1	1	1	1	0	4	2	2	0	4	8	5			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chrX:122598965T>A	uc004etq.4	+	13	2616	c.2324_splice	c.e13+2	p.R775_splice	GRIA3_uc004etr.4_Splice_Site_p.R775_splice|GRIA3_uc004ets.4_Splice_Site	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	775				R -> G (in Ref. 1 and 2).	glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	AGCATTAAGGTGGGTGGAATA	0.393													8	109					0	0	1	0	0	A	122598965	T	A	122598965	5	1	147	1	0	0	0	0	0	0	1	0	6769	1710	59	5	2376	5	GRIA3	23	122598965	Splice_Site	SNP	T	TCGA-FG-8186-01A-11D-2253-08	74545343	122598965	32671595	46	6701											
ATP2B3	492	broad.mit.edu	37	chrX	152807342	152807342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagctcctccaggtccccGtggctgcgctggtggtgggg	2	8	18	13	2	0	0	0	0	0	0	3	0	3	0	4	7	2	4	4	7	0	0			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chrX:152807342G>A	uc004fht.1	+	2	748	c.622G>A	c.(622-624)Gtg>Atg	p.V208M	ATP2B3_uc004fhs.1_Missense_Mutation_p.V208M	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	208					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGGTCCCCGTGGCTGCGCT	0.622													6	147					0	0	1	0	0	A	152807342	G	A	152807342	3	1	147	1	0	0	0	0	1	0	0	0	1141	1145	40	1	632	1	ATP2B3	23	152807342	Missense_Mutation	SNP	G	TCGA-FG-8186-01A-11D-2253-08	30208377	152807342	2463218	47	6702											
KCNQ4	9132	broad.mit.edu	37	chr1	41283890	41283890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcgtccgggtctggtccGccggatgctgctgccgctac	4	9	13	15	5	1	0	0	0	1	0	4	1	3	1	4	3	4	3	4	3	1	1			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr1:41283890G>A	uc001cgh.2	+	2	542	c.460G>A	c.(460-462)Gcc>Acc	p.A154T	KCNQ4_uc001cgi.2_Missense_Mutation_p.A154T	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	154					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			GGTCTGGTCCGCCGGATGCTG	0.612													20	52					0	0	1	0	0	A	41283890	G	A	41283890	3	1	148	1	0	0	0	0	1	0	0	0	8085	1087	38	1	470	1	KCNQ4	1	41283890	Missense_Mutation	SNP	G	TCGA-FG-8187-01A-11D-2253-08		41283890	207966731	1	6703											
DMBX1	127343	broad.mit.edu	37	chr1	46977833	46977833	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggagcaattccgccaGcacatggcggccaccaacaa	12	4	10	15	2	0	0	0	0	0	0	1	1	1	1	4	3	4	3	4	3	3	1			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr1:46977833G>A	uc001cpx.3	+	3	831	c.816G>A	c.(814-816)caG>caA	p.Q272Q	DMBX1_uc001cpw.3_Silent_p.Q267Q	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	272					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AATTCCGCCAGCACATGGCGG	0.672													3	57					0	0	1	0	0	A	46977833	G	A	46977833	2	1	148	1	0	0	0	0	0	0	0	1	4578	962	34	3		3	DMBX1	1	46977833	Silent	SNP	G	TCGA-FG-8187-01A-11D-2253-08	5693943	46977833	202272788	2	6704											
FAM89A	375061	broad.mit.edu	37	chr1	231155648	231155648	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtcgctgctggagagggaGgagacaggcagtgacaagtc	11	5	17	8	1	0	3	0	1	0	2	2	6	0	4	0	4	1	3	0	4	1	0			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr1:231155648G>A	uc001hui.2	-	1	554	c.516C>T	c.(514-516)tcC>tcT	p.S172S	FAM89A_uc021pkk.1_Non-coding_Transcript	NM_198552	NP_940954	Q96GI7	FA89A_HUMAN	Homo sapiens family with sequence similarity 89, member A (FAM89A), mRNA.	172										endometrium(1)|upper_aerodigestive_tract(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TGGAGAGGGAGGAGACAGGCA	0.567													3	54					0	0	1	0	0	A	231155648	G	A	231155648	2	1	148	1	0	0	0	0	0	0	0	1	5647	987	35	3		3	FAM89A	1	231155648	Silent	SNP	G	TCGA-FG-8187-01A-11D-2253-08	184177815	231155648	18094973	3	6705											
HOXD3	3232	broad.mit.edu	37	chr2	177034190	177034190	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaactcagagcagcagccAccacaaccccctcctccacc	11	4	5	21	0	1	2	1	1	0	1	3	2	3	2	7	0	5	2	7	0	2	0			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr2:177034190A>G	uc002ukt.1	+	1	524	c.348A>G	c.(346-348)ccA>ccG	p.P116P		NM_006898	NP_008829	P31249	HXD3_HUMAN	Homo sapiens homeobox D3 (HOXD3), mRNA.	116	Poly-Pro.				Notch signaling pathway|anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		AGCAGCAGccaccacaacccc	0.642													17	44					0	0	1	0	0	G	177034190	A	G	177034190	2	3	148	1	0	0	0	0	0	0	0	1	7323	146	6	3		3	HOXD3	2	177034190	Silent	SNP	A	TCGA-FG-8187-01A-11D-2253-08		177034190	66165183	4	6706											
ZDBF2	57683	broad.mit.edu	37	chr2	207175936	207175936	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcattagaaagtatatttcGaaatactctgtctttttacg	13	17	5	6	2	3	1	1	0	2	1	4	2	3	1	0	0	2	1	0	0	7	8			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr2:207175936G>A	uc002vbp.2	+	4	6934	c.6684G>A	c.(6682-6684)tcG>tcA	p.S2228S		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	2228							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGTATATTTCGAAATACTCTG	0.363													10	15					0	0	1	0	0	A	207175936	G	A	207175936	2	1	148	1	0	0	0	0	0	0	0	1	17596	1045	37	2		2	ZDBF2	2	207175936	Silent	SNP	G	TCGA-FG-8187-01A-11D-2253-08	30141746	207175936	36023437	5	6707											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								34	92					0	0	1	0	0	T	209113112	C	T	209113112	3	4	148	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-8187-01A-11D-2253-08	1937176	209113112	34086261	6	6708											
ZBTB20	26137	broad.mit.edu	37	chr3	114058129	114058129	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtggaggcgcatgtgcacgTtgagggagctcttctgggtg	5	10	19	7	2	2	1	0	1	2	0	2	3	2	3	0	5	2	4	0	5	0	2			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr3:114058129T>C	uc003ebi.3	-	4	2129	c.1949A>G	c.(1948-1950)aAc>aGc	p.N650S	ZBTB20_uc003ebj.3_Missense_Mutation_p.N577S|ZBTB20_uc010hqp.3_Missense_Mutation_p.N577S|ZBTB20_uc003ebk.3_Missense_Mutation_p.N577S|ZBTB20_uc003ebl.3_Missense_Mutation_p.N577S|ZBTB20_uc003ebm.3_Missense_Mutation_p.N577S|ZBTB20_uc003ebn.3_Missense_Mutation_p.N577S	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	650					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CATGTGCACGTTGAGGGAGCT	0.527													4	234					0	0	1	0	0	C	114058129	T	C	114058129	3	2	148	1	0	0	0	0	1	0	0	0	17526	1725	60	3	280	3	ZBTB20	3	114058129	Missense_Mutation	SNP	T	TCGA-FG-8187-01A-11D-2253-08		114058129	83964301	7	6709											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	17	7	10	7	0	1	2	1	2	0	0	1	4	1	3	0	3	3	2	0	3	5	0	rs121913279		TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr3:178952085A>G	uc003fjk.3	+	20	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(3170)|p.H1047L(409)|p.H1047Y(46)|p.A1046T(6)|p.H1047Q(3)|p.A1046E(2)|p.H1047P(2)|p.A1046V(2)|p.A1046A(1)|p.H1047T(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			8	94					0	0	1	0	0	G	178952085	A	G	178952085	3	3	148	1	0	0	0	0	1	0	0	0	11913	217	8	3	3218	3	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-FG-8187-01A-11D-2253-08	64893956	178952085	19070345	8	6710											
ZNF165	7718	broad.mit.edu	37	chr6	28053480	28053480	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccgcctccgggagctctgCtgtcagtggctgaagccaga	7	7	14	13	2	2	2	1	1	1	1	3	3	3	3	4	2	4	3	4	2	1	0	rs140146788		TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr6:28053480C>T	uc021yro.1	+	1	1049	c.222C>T	c.(220-222)tgC>tgT	p.C74C	ZNF165_uc003nkh.3_Silent_p.C74C|ZNF165_uc003nki.4_Silent_p.C74C	NM_003447	NP_003438	P49910	ZN165_HUMAN	Homo sapiens zinc finger protein 165 (ZNF165), mRNA.	74	SCAN box.				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGAGCTCTGCTGTCAGTGGC	0.562													3	58					0	0	1	0	0	T	28053480	C	T	28053480	2	4	148	1	0	0	0	0	0	0	0	1	17737	805	28	3		3	ZNF165	6	28053480	Silent	SNP	C	TCGA-FG-8187-01A-11D-2253-08		28053480	143061587	9	6711											
PIK3CG	5294	broad.mit.edu	37	chr7	106520010	106520010	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagaaaaaaccactatggcTtgagtttaaatgtgccgatc	15	10	8	8	1	0	2	0	1	0	1	1	3	0	2	2	1	2	2	2	1	7	4			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr7:106520010T>C	uc003vdv.4	+	5	2523	c.2438T>C	c.(2437-2439)cTt>cCt	p.L813P	PIK3CG_uc003vdu.3_Missense_Mutation_p.L813P|PIK3CG_uc003vdw.3_Missense_Mutation_p.L813P	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	813					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCACTATGGCTTGAGTTTAAA	0.368													3	85					0	0	1	0	0	C	106520010	T	C	106520010	3	2	148	1	0	0	0	0	1	0	0	0	11916	1609	56	4	2456	4	PIK3CG	7	106520010	Missense_Mutation	SNP	T	TCGA-FG-8187-01A-11D-2253-08		106520010	52618653	10	6712											
XKR6	286046	broad.mit.edu	37	chr8	10755970	10755970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaacacagtgctggcaccGcataggagtcagtggtctcc	10	7	11	13	1	2	0	1	0	1	0	3	1	2	1	2	3	2	3	2	3	2	1			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr8:10755970G>A	uc003wtk.1	-	2	1445	c.1418C>T	c.(1417-1419)gCg>gTg	p.A473V		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	473						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		TGCTGGCACCGCATAGGAGTC	0.473													3	39					0	0	1	0	0	A	10755970	G	A	10755970	3	1	148	1	0	0	0	0	1	0	0	0	17432	1087	38	1	511	1	XKR6	8	10755970	Missense_Mutation	SNP	G	TCGA-FG-8187-01A-11D-2253-08		10755970	135608052	11	6713											
CERCAM	51148	broad.mit.edu	37	chr9	131186792	131186792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccttccttgcatccctgcGggctgaaggggcagaccagc	7	7	12	15	1	0	2	0	1	0	1	2	2	2	2	4	3	3	3	4	3	1	2			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr9:131186792G>A	uc004buz.4	+	4	1063	c.665G>A	c.(664-666)cGg>cAg	p.R222Q	CERCAM_uc004buy.1_Missense_Mutation_p.R144Q|CERCAM_uc010mxz.3_Missense_Mutation_p.R144Q|CERCAM_uc010mya.1_Missense_Mutation_p.R63Q	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN	Homo sapiens cerebral endothelial cell adhesion molecule (CERCAM), mRNA.	222					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane		p.R144L(1)|p.R222L(1)		endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GCATCCCTGCGGGCTGAAGGG	0.617													39	68					0	0	1	0	0	A	131186792	G	A	131186792	3	1	148	1	0	0	0	0	1	0	0	0	3266	1116	39	2	683	2	CERCAM	9	131186792	Missense_Mutation	SNP	G	TCGA-FG-8187-01A-11D-2253-08		131186792	10026639	12	6714											
LARP4B	23185	broad.mit.edu	37	chr10	866757	866757	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactgtaaacttctcctcccTtttcttccggtagccaaagg	8	13	6	14	1	2	0	0	0	2	0	5	0	4	0	4	2	2	2	4	2	4	6			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr10:866757T>C	uc001ifs.1	-	12	1554	c.1513A>G	c.(1513-1515)Agg>Ggg	p.R505G		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	505							RNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TTCTCCTCCCTTTTCTTCCGG	0.348													3	76					0	0	1	0	0	C	866757	T	C	866757	3	2	148	1	0	0	0	0	1	0	0	0	8631	1608	56	4	723	4	LARP4B	10	866757	Missense_Mutation	SNP	T	TCGA-FG-8187-01A-11D-2253-08		866757	134667990	13	6715											
CUBN	8029	broad.mit.edu	37	chr10	16992025	16992025	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggcgcgtcttcgtggccGccatccaaaatttctacaaa	10	9	10	12	4	2	0	0	0	2	0	4	0	3	0	3	3	1	0	3	3	4	3			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr10:16992025G>A	uc001ioo.3	-	33	5107	c.5055C>T	c.(5053-5055)ggC>ggT	p.G1685G		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	1685	CUB 11.				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	p.G1685G(2)		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)	CTTCGTGGCCGCCATCCAAAA	0.448													11	31					0	0	1	0	0	A	16992025	G	A	16992025	2	1	148	1	0	0	0	0	0	0	0	1	4051	1074	38	1		1	CUBN	10	16992025	Silent	SNP	G	TCGA-FG-8187-01A-11D-2253-08	16125268	16992025	118542722	14	6716											
OR8K1	390157	broad.mit.edu	37	chr11	56114203	56114203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctacatgtttattctagtggCcattctcagaatgaactcaa	12	14	6	9	0	3	2	2	1	2	1	4	2	3	2	1	1	2	1	1	1	6	6			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr11:56114203C>T	uc010rjg.2	+	0	689	c.689C>T	c.(688-690)gCc>gTc	p.A230V		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 1 (OR8K1), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V229V(1)		large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					ATTCTAGTGGCCATTCTCAGA	0.383										HNSCC(65;0.19)			26	47					0	0	1	0	0	T	56114203	C	T	56114203	3	4	148	1	0	0	0	0	1	0	0	0	11243	739	26	3	691	3	OR8K1	11	56114203	Missense_Mutation	SNP	C	TCGA-FG-8187-01A-11D-2253-08		56114203	78892313	15	6717											
ABCG4	64137	broad.mit.edu	37	chr11	119025013	119025013	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggttaatggaaggccaCgggagctgaggaccttccgc	8	8	14	11	2	0	1	0	1	0	0	2	4	2	4	4	5	1	2	4	5	2	2			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr11:119025013C>T	uc001pvs.3	+	3	736	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W	ABCG4_uc009zar.3_Missense_Mutation_p.R134W	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.	134	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGGAAGGCCACGGGAGCTGAG	0.557													7	71					0	0	1	0	0	T	119025013	C	T	119025013	3	4	148	1	0	0	0	0	1	0	0	0	70	527	19	1	410	1	ABCG4	11	119025013	Missense_Mutation	SNP	C	TCGA-FG-8187-01A-11D-2253-08	62910810	119025013	15981503	16	6718											
TMTC4	84899	broad.mit.edu	37	chr13	101257337	101257339	+	In_Frame_Del	DEL	AGG	AGG	-																															tgccgtggggtcaagctgcaAggagatttcatagtgtttct																										TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr13:101257337_101257339delAGG	uc001vot.3	-	18	2505_2507	c.2192_2194delCCT	c.(2191-2196)tccttg>ttg	p.S731del	TMTC4_uc001vou.3_In_Frame_Del_p.S712del|TMTC4_uc010tja.2_In_Frame_Del_p.S601del	NM_032813	NP_001073137	Q5T4D3	TMTC4_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 4 (TMTC4), transcript variant 1, mRNA.	712						integral to membrane	binding	p.I730I(2)|p.I730M(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCAAGCTGCAAGGAGATTTCATA	0.438													23	255	---	---	---	---						-	101257339	AGG	-	101257337	7	5	148	1	0	1	0	1	0	0	0	0	16260	69	3	0	92	0	TMTC4	13	101257337	In_Frame_Del	DEL	AGG	TCGA-FG-8187-01A-11D-2253-08		101257337	13912541	17	6719											
TEKT1	83659	broad.mit.edu	37	chr17	6703471	6703471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ataaatggtgttctctttgaCctggatctcctcctgcaggg	7	14	10	10	0	2	1	0	1	2	0	5	2	3	2	3	3	1	2	3	3	2	3			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr17:6703471C>T	uc002gdt.3	-	7	1242	c.1132G>A	c.(1132-1134)Gtc>Atc	p.V378I	TEKT1_uc010vth.2_Missense_Mutation_p.V232I	NM_053285	NP_444515	Q969V4	TEKT1_HUMAN	Homo sapiens tektin 1 (TEKT1), mRNA.	378					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TTCTCTTTGACCTGGATCTCC	0.527													11	125					0	0	1	0	0	T	6703471	C	T	6703471	3	4	148	1	0	0	0	0	1	0	0	0	15749	507	18	3	128	3	TEKT1	17	6703471	Missense_Mutation	SNP	C	TCGA-FG-8187-01A-11D-2253-08		6703471	74491739	18	6720											
PBX4	80714	broad.mit.edu	37	chr19	19672911	19672911	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttggggggtggccccctGccagctaccctgggcctgaa	5	7	16	13	0	0	1	0	1	0	0	0	1	0	1	5	6	3	2	5	6	2	2			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr19:19672911G>A	uc002nmy.3	-	7	1335	c.1048C>T	c.(1048-1050)Cag>Tag	p.Q350*	PBX4_uc010xra.2_Nonsense_Mutation_p.Q185*|PBX4_uc010xqz.2_Non-coding_Transcript	NM_025245	NP_079521	Q9BYU1	PBX4_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 4 (PBX4), transcript variant 1, mRNA.	350							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						GTGGCCCCCTGCCAGCTACCC	0.597													4	22					0	0	1	0	0	A	19672911	G	A	19672911	4	1	148	1	0	0	0	0	0	1	0	0	11495	1328	46	3	80	3	PBX4	19	19672911	Nonsense_Mutation	SNP	G	TCGA-FG-8187-01A-11D-2253-08		19672911	39456072	19	6721											
RIPK4	54101	broad.mit.edu	37	chr21	43166845	43166845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtatcaggtggctgcaggCgcgcggccgggctctgcaca	5	6	17	13	5	2	0	1	0	1	0	2	0	2	0	1	5	2	5	1	5	1	1			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr21:43166845C>T	uc002yzn.1	-	4	808	c.760G>A	c.(760-762)Gcc>Acc	p.A254T		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	254						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGGCTGCAGGCGCGCGGCCGG	0.672													55	78					0	0	1	0	0	T	43166845	C	T	43166845	3	4	148	1	0	0	0	0	1	0	0	0	13383	768	27	1	1610	1	RIPK4	21	43166845	Missense_Mutation	SNP	C	TCGA-FG-8187-01A-11D-2253-08		43166845	4963050	20	6722											
ZNF295	49854	broad.mit.edu	37	chr21	43411483	43411483	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacttctcgcagggccacaGgctggcttctttgctaggac	7	10	11	13	1	2	0	0	0	2	0	3	1	2	1	1	4	1	4	1	4	1	4			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr21:43411483G>A	uc021wjo.1	-	0	2722	c.2722C>T	c.(2722-2724)Ctg>Ttg	p.L908L	ZNF295_uc002yzz.4_Silent_p.L707L|ZNF295_uc002zab.4_Silent_p.L908L|ZNF295_uc002yzy.4_Silent_p.L908L|ZNF295_uc002zaa.4_Silent_p.L908L	NM_020727	NP_065778	Q9ULJ3	ZN295_HUMAN	Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA.	908					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methyl-CpG binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						CAGGGCCACAGGCTGGCTTCT	0.552													7	98					0	0	1	0	0	A	43411483	G	A	43411483	2	1	148	1	0	0	0	0	0	0	0	1	17824	991	35	3		3	ZNF295	21	43411483	Silent	SNP	G	TCGA-FG-8187-01A-11D-2253-08	244638	43411483	4718412	21	6723											
VPS13D	55187	broad.mit.edu	37	chr1	12461735	12461735	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaagctgctaagtttcttTggctacgatcaagcagaatc	11	12	8	10	1	3	1	2	0	1	1	4	2	3	1	0	1	4	5	0	1	5	4			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr1:12461735T>C	uc001atv.3	+	61	12000	c.11859T>C	c.(11857-11859)ttT>ttC	p.F3953F	VPS13D_uc001atw.3_Silent_p.F3928F|VPS13D_uc001atx.3_Silent_p.F3140F|VPS13D_uc009vnl.3_Non-coding_Transcript	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	3952					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TAAGTTTCTTTGGCTACGATC	0.373													38	54					0	0	1	0	0	C	12461735	T	C	12461735	2	2	149	1	0	0	0	0	0	0	0	1	17189	1809	63	3		3	VPS13D	1	12461735	Silent	SNP	T	TCGA-FG-8188-01A-11D-2253-08		12461735	236788886	1	6724											
SF3A3	10946	broad.mit.edu	37	chr1	38435137	38435137	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagccagtagggaataggCtaaaaaagaaaaaaacaaaa	24	4	8	5	0	0	1	0	0	0	1	0	2	0	2	1	2	3	2	1	2	12	4			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr1:38435137C>A	uc001cci.3	-	14	1295	c.1171_splice	c.e14-1	p.P391_splice	SF3A3_uc010oik.2_Splice_Site_p.P338_splice	NM_006802	NP_006793	Q12874	SF3A3_HUMAN	Homo sapiens splicing factor 3a, subunit 3, 60kDa (SF3A3), mRNA.	391					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGGGAATAGGCTAAAAAAGAA	0.418													15	34					3.27435e-08	3.33389e-08	1	1	0	A	38435137	C	A	38435137	5	1	149	1	0	0	0	0	0	0	1	0	14148	811	28	5	351	5	SF3A3	1	38435137	Splice_Site	SNP	C	TCGA-FG-8188-01A-11D-2253-08	25973402	38435137	210815484	2	6725											
COL9A2	1298	broad.mit.edu	37	chr1	40782860	40782860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcggggggaggccgtagCggcggccatggctggcggcg	3	4	23	11	6	0	0	0	0	0	0	0	1	0	1	2	9	2	3	2	9	1	1			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr1:40782860C>T	uc001cfh.1	-	0	122	c.10G>A	c.(10-12)Gct>Act	p.A4T	COL9A2_uc001cfi.1_Intron	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA.	4					axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GAGGCCGTAGCGGCGGCCATG	0.701													9	4					0	0	1	0	0	T	40782860	C	T	40782860	3	4	149	1	0	0	0	0	1	0	0	0	3708	768	27	1	2187	1	COL9A2	1	40782860	Missense_Mutation	SNP	C	TCGA-FG-8188-01A-11D-2253-08	2347723	40782860	208467761	3	6726											
PCYOX1	51449	broad.mit.edu	37	chr2	70504434	70504434	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgccattgcagcccacaaCgctgcactccttgcctatca	9	9	7	16	1	1	0	1	0	0	0	2	0	2	0	4	0	6	3	4	0	2	3			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr2:70504434C>T	uc002sgn.4	+	5	1494	c.1428C>T	c.(1426-1428)aaC>aaT	p.N476N	PCYOX1_uc010fdo.3_Silent_p.N399N|PCYOX1_uc010yqu.2_Silent_p.N458N	NM_016297	NP_057381	Q9UHG3	PCYOX_HUMAN	Homo sapiens prenylcysteine oxidase 1 (PCYOX1), mRNA.	476					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						CAGCCCACAACGCTGCACTCC	0.468													15	256					0	0	1	0	0	T	70504434	C	T	70504434	2	4	149	1	0	0	0	0	0	0	0	1	11608	535	19	1		1	PCYOX1	2	70504434	Silent	SNP	C	TCGA-FG-8188-01A-11D-2253-08		70504434	172694939	4	6727											
SLC9A2	6549	broad.mit.edu	37	chr2	103324661	103324661	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcgcttcttgccagaaCagttctccaagaaatccccc	10	8	7	16	1	2	2	0	0	2	2	4	2	3	2	5	1	2	2	5	1	3	3			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr2:103324661C>G	uc002tca.3	+	11	2294	c.2152C>G	c.(2152-2154)Cag>Gag	p.Q718E		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	718						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CTTGCCAGAACAGTTCTCCAA	0.537													26	126					0	0	1	0	0	G	103324661	C	G	103324661	3	3	149	1	0	0	0	0	1	0	0	0	14712	479	17	5	2198	5	SLC9A2	2	103324661	Missense_Mutation	SNP	C	TCGA-FG-8188-01A-11D-2253-08	32820227	103324661	139874712	5	6728											
TFCP2L1	29842	broad.mit.edu	37	chr2	121997207	121997207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgttcacctggtaggccaCgtcgggccatggagagcact	7	8	14	12	2	1	1	1	0	0	1	2	2	1	1	3	4	1	4	3	4	1	2	rs141932688	byFrequency	TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr2:121997207C>T	uc002tmx.3	-	7	880	c.787G>A	c.(787-789)Gtg>Atg	p.V263M	TFCP2L1_uc010flr.3_Missense_Mutation_p.V263M	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	Homo sapiens transcription factor CP2-like 1 (TFCP2L1), mRNA.	263					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					TGGTAGGCCACGTCGGGCCAT	0.632													4	76					0	0	1	0	0	T	121997207	C	T	121997207	3	4	149	1	0	0	0	0	1	0	0	0	15793	536	19	1	684	1	TFCP2L1	2	121997207	Missense_Mutation	SNP	C	TCGA-FG-8188-01A-11D-2253-08	18672546	121997207	121202166	6	6729											
TTN	7273	broad.mit.edu	37	chr2	179655479	179655479	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcttgttgtgtggtagtttCttcttgagctcccgggactg	4	17	12	8	1	3	1	0	1	3	0	4	2	4	2	1	2	1	4	1	2	1	6			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr2:179655479C>G	uc021vsy.1	-	10	1981	c.1756G>C	c.(1756-1758)Gaa>Caa	p.E586Q	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002unb.2_Missense_Mutation_p.E586Q|TTN_uc010frg.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	586							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGGTAGTTTCTTCTTGAGCT	0.423													6	149					0	0	1	0	0	G	179655479	C	G	179655479	3	3	149	1	0	0	0	0	1	0	0	0	16732	922	32	5	109640	5	TTN	2	179655479	Missense_Mutation	SNP	C	TCGA-FG-8188-01A-11D-2253-08	57658272	179655479	63543894	7	6730											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								35	66					0	0	1	0	0	T	209113112	C	T	209113112	3	4	149	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-8188-01A-11D-2253-08	29457633	209113112	34086261	8	6731											
GRM7	2917	broad.mit.edu	37	chr3	7620372	7620372	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactccccctgggctgtgatTcctgtcttcctggcaatgtt	4	14	9	14	0	1	1	0	1	1	0	4	1	4	1	4	2	0	3	4	2	1	3			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr3:7620372T>C	uc003bqm.2	+	7	2053	c.1779T>C	c.(1777-1779)atT>atC	p.I593I	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.I593I|GRM7_uc003bql.2_Silent_p.I593I|GRM7_uc003bqn.1_Silent_p.I176I|GRM7_uc010hch.1_Silent_p.I104I	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	593					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GGGCTGTGATTCCTGTCTTCC	0.552													10	117					0	0	1	0	0	C	7620372	T	C	7620372	2	2	149	1	0	0	0	0	0	0	0	1	6802	1771	62	3		3	GRM7	3	7620372	Silent	SNP	T	TCGA-FG-8188-01A-11D-2253-08		7620372	190402058	9	6732											
UBXN7	26043	broad.mit.edu	37	chr3	196096372	196096372	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctctgaccttcctcactgTcatgataaacctgttaaatc	11	14	4	12	0	3	2	2	2	1	0	6	2	4	2	3	0	1	1	3	0	4	3			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr3:196096372T>A	uc003fwm.4	-	6	701	c.626A>T	c.(625-627)gAc>gTc	p.D209V	UBXN7_uc003fwn.4_Missense_Mutation_p.D61V|UBXN7_uc010iae.3_Missense_Mutation_p.D47V	NM_015562	NP_056377	O94888	UBXN7_HUMAN	Homo sapiens UBX domain protein 7 (UBXN7), mRNA.	209							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TTCCTCACTGTCATGATAAAC	0.363													14	48					0	0	1	0	0	A	196096372	T	A	196096372	3	1	149	1	0	0	0	0	1	0	0	0	16915	1667	58	5	863	5	UBXN7	3	196096372	Missense_Mutation	SNP	T	TCGA-FG-8188-01A-11D-2253-08	188476000	196096372	1926058	10	6733											
FABP2	2169	broad.mit.edu	37	chr4	120243252	120243252	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accttccaagtgctgtcaaaCgccatgatttcagttgagtc	10	12	8	11	1	2	2	2	2	0	0	4	2	3	2	3	0	2	2	3	0	2	3			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr4:120243252C>T	uc003icw.3	-	0	65	c.6G>A	c.(4-6)gcG>gcA	p.A2A		NM_000134	NP_000125	P12104	FABPI_HUMAN	Homo sapiens fatty acid binding protein 2, intestinal (FABP2), mRNA.	2							fatty acid binding			breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8						TGCTGTCAAACGCCATGATTT	0.398													7	253					0	0	1	0	0	T	120243252	C	T	120243252	2	4	149	1	0	0	0	0	0	0	0	1	5357	523	19	1		1	FABP2	4	120243252	Silent	SNP	C	TCGA-FG-8188-01A-11D-2253-08		120243252	70911024	11	6734											
ODZ3	55714	broad.mit.edu	37	chr4	183609326	183609326	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctcccacatagaaatatgTtctgtggactgtggctcaca	10	12	8	11	0	2	1	1	0	1	1	4	2	4	2	2	2	0	2	2	2	3	3			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr4:183609326T>C	uc003ivd.1	+	10	2118	c.2043T>C	c.(2041-2043)tgT>tgC	p.C681C	ODZ3_uc003ive.1_Silent_p.C87C	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	681	EGF-like 6.				signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TAGAAATATGTTCTGTGGACT	0.527													58	92					0	0	1	0	0	C	183609326	T	C	183609326	2	2	149	1	0	0	0	0	0	0	0	1	10836	1731	60	3		3	ODZ3	4	183609326	Silent	SNP	T	TCGA-FG-8188-01A-11D-2253-08	63366074	183609326	7544950	12	6735											
PIK3R1	5295	broad.mit.edu	37	chr5	67569270	67569270	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctcctgacattgccccGcctcttcttatcaagctcgt	5	12	6	18	2	3	1	1	1	2	0	5	1	4	1	6	0	2	1	6	0	2	3			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr5:67569270G>A	uc003jva.3	+	2	967	c.387G>A	c.(385-387)ccG>ccA	p.P129P		NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	129	Rho-GAP.				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.?(2)|p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	ACATTGCCCCGCCTCTTCTTA	0.443			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			24	223					0	0	1	0	0	A	67569270	G	A	67569270	2	1	149	1	0	0	0	0	0	0	0	1	11918	1074	38	1		1	PIK3R1	5	67569270	Silent	SNP	G	TCGA-FG-8188-01A-11D-2253-08		67569270	113345990	13	6736											
PIK3R1	5295	broad.mit.edu	37	chr5	67591086	67591086	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgagtatcgagaaattgAcaaacgtatgaacagcatta	17	9	9	6	2	0	4	0	3	0	1	1	5	0	4	0	0	4	4	0	0	6	4			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr5:67591086A>G	uc003jva.3	+	12	2259	c.1679A>G	c.(1678-1680)gAc>gGc	p.D560G	PIK3R1_uc003jvc.3_Missense_Mutation_p.D260G|PIK3R1_uc003jvd.3_Missense_Mutation_p.D290G|PIK3R1_uc003jve.3_Missense_Mutation_p.D239G|PIK3R1_uc021xzn.1_Missense_Mutation_p.D197G|PIK3R1_uc011crb.2_Missense_Mutation_p.D230G	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	560					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.D560_S565del(2)|p.R557_K561>Q(2)|p.0?(1)|p.?(1)|p.D560H(1)|p.R557_D560del(1)|p.I559V(1)|p.D560Y(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CGAGAAATTGACAAACGTATG	0.358			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			24	89					0	0	1	0	0	G	67591086	A	G	67591086	3	3	149	1	0	0	0	0	1	0	0	0	11918	275	10	3	1855	3	PIK3R1	5	67591086	Missense_Mutation	SNP	A	TCGA-FG-8188-01A-11D-2253-08	21816	67591086	113324174	14	6737											
CRHBP	1393	broad.mit.edu	37	chr5	76264637	76264637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgtgacttttgagtatcGtcagctggagccgtacgagc	7	12	13	9	4	1	2	1	2	0	0	3	4	1	3	1	1	4	3	1	1	2	4			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr5:76264637G>A	uc003ker.3	+	6	1176	c.896G>A	c.(895-897)cGt>cAt	p.R299H		NM_001882	NP_001873	P24387	CRHBP_HUMAN	Homo sapiens corticotropin releasing hormone binding protein (CRHBP), mRNA.	299					female pregnancy|learning or memory|signal transduction	soluble fraction		p.Y298H(1)		kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		TTTGAGTATCGTCAGCTGGAG	0.458													18	58					0	0	1	0	0	A	76264637	G	A	76264637	3	1	149	1	0	0	0	0	1	0	0	0	3870	1145	40	1	922	1	CRHBP	5	76264637	Missense_Mutation	SNP	G	TCGA-FG-8188-01A-11D-2253-08	8673551	76264637	104650623	15	6738											
DEFB113	245927	broad.mit.edu	37	chr6	49936551	49936551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgacattctctttttctctCtgcaacttctcttgtttttt	4	23	3	11	0	4	1	0	1	4	0	7	1	4	1	0	0	2	2	0	0	1	8			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr6:49936551C>T	uc011dwq.2	-	1	88	c.88G>A	c.(88-90)Gag>Aag	p.E30K		NM_001037729	NP_001032818	Q30KQ7	DB113_HUMAN	Homo sapiens defensin, beta 113 (DEFB113), mRNA.	30					defense response to bacterium	extracellular region				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Lung NSC(77;0.042)					CTTTTTCTCTCTGCAACTTCT	0.383													3	26					0	0	1	0	0	T	49936551	C	T	49936551	3	4	149	1	0	0	0	0	1	0	0	0	4402	922	32	3	156	3	DEFB113	6	49936551	Missense_Mutation	SNP	C	TCGA-FG-8188-01A-11D-2253-08		49936551	121178516	16	6739											
DEFB112	245915	broad.mit.edu	37	chr6	50011409	50011409	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagttgtaggtcttgcacagTatgaaatcctaaattcacta	13	13	8	7	0	2	1	1	1	1	0	3	2	3	1	1	1	1	4	1	1	6	7			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr6:50011409T>C	uc011dws.2	-	1	221	c.221A>G	c.(220-222)tAc>tGc	p.Y74C		NM_001037498	NP_001032587	Q30KQ8	DB112_HUMAN	Homo sapiens defensin, beta 112 (DEFB112), mRNA.	74					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TCTTGCACAGTATGAAATCCT	0.433													34	67					0	0	1	0	0	C	50011409	T	C	50011409	3	2	149	1	0	0	0	0	1	0	0	0	4401	1638	57	3	123	3	DEFB112	6	50011409	Missense_Mutation	SNP	T	TCGA-FG-8188-01A-11D-2253-08	74858	50011409	121103658	17	6740											
TFAP2D	83741	broad.mit.edu	37	chr6	50696680	50696680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgctgaggtaaagaggcGcctctccccacctgagtgcc	8	8	11	14	1	1	3	0	2	1	1	2	3	1	3	5	2	2	2	5	2	2	2			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr6:50696680G>A	uc003paf.3	+	3	1222	c.710G>A	c.(709-711)cGc>cAc	p.R237H	TFAP2D_uc011dwt.2_Non-coding_Transcript	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.	237							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					GTAAAGAGGCGCCTCTCCCCA	0.473													6	103					0	0	1	0	0	A	50696680	G	A	50696680	3	1	149	1	0	0	0	0	1	0	0	0	15787	1087	38	1	724	1	TFAP2D	6	50696680	Missense_Mutation	SNP	G	TCGA-FG-8188-01A-11D-2253-08	685271	50696680	120418387	18	6741											
DOPEY1	23033	broad.mit.edu	37	chr6	83855297	83855297	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagtggaattggttcgttcaAtcagtgtcatgagagcagaa	12	12	12	5	1	3	2	3	1	0	2	4	4	3	3	0	2	1	3	0	2	4	4			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr6:83855297A>G	uc011dyy.2	+	24	5829	c.5569A>G	c.(5569-5571)Atc>Gtc	p.I1857V	DOPEY1_uc003pjs.1_Missense_Mutation_p.I1866V|DOPEY1_uc010kbl.1_Missense_Mutation_p.I1857V|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	1866					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GGTTCGTTCAATCAGTGTCAT	0.373													15	26					0	0	1	0	0	G	83855297	A	G	83855297	3	3	149	1	0	0	0	0	1	0	0	0	4707	101	4	3	5686	3	DOPEY1	6	83855297	Missense_Mutation	SNP	A	TCGA-FG-8188-01A-11D-2253-08	33158617	83855297	87259770	19	6742											
RARS2	57038	broad.mit.edu	37	chr6	88239302	88239302	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactctccagcaactttaagAcctcttgagatttttcacga	11	14	5	11	1	3	2	1	1	2	2	4	4	3	2	2	0	3	1	2	0	3	6			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr6:88239302A>C	uc003pme.3	-	9	896	c.836T>G	c.(835-837)gTc>gGc	p.V279G	RARS2_uc003pmc.3_Missense_Mutation_p.V104G|RARS2_uc003pmf.3_Non-coding_Transcript	NM_020320	NP_064716	Q5T160	SYRM_HUMAN	Homo sapiens arginyl-tRNA synthetase 2, mitochondrial (RARS2), nuclear gene encoding mitochondrial protein, mRNA.	279					arginyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|arginine-tRNA ligase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		CAACTTTAAGACCTCTTGAGA	0.308													17	48					0	0	1	0	0	C	88239302	A	C	88239302	3	2	149	1	0	0	0	0	1	0	0	0	13059	275	10	5	944	5	RARS2	6	88239302	Missense_Mutation	SNP	A	TCGA-FG-8188-01A-11D-2253-08	4384005	88239302	82875765	20	6743											
BACH2	60468	broad.mit.edu	37	chr6	90661005	90661005	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcggctcacttttaatctGccccctggcaagccccggct	5	9	11	16	2	2	0	1	0	1	0	2	0	2	0	4	4	2	3	4	4	2	2			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr6:90661005G>A	uc011eab.2	-	6	1694	c.820C>T	c.(820-822)Cag>Tag	p.Q274*	BACH2_uc003pnw.3_Nonsense_Mutation_p.Q274*|BACH2_uc010kch.3_Nonsense_Mutation_p.Q274*	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	274						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CTTTTAATCTGCCCCCTGGCA	0.532													46	58					0	0	1	0	0	A	90661005	G	A	90661005	4	1	149	1	0	0	0	0	0	1	0	0	1284	1328	46	3	1717	3	BACH2	6	90661005	Nonsense_Mutation	SNP	G	TCGA-FG-8188-01A-11D-2253-08	2421703	90661005	80454062	21	6744											
UST	10090	broad.mit.edu	37	chr6	149340328	149340328	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagtgctccaaccccaggttAttttacatcattccgtactt	9	14	6	12	1	1	0	1	0	0	0	3	1	3	0	4	1	4	3	4	1	4	6			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr6:149340328A>G	uc003qmg.3	+	5	1031	c.735A>G	c.(733-735)ttA>ttG	p.L245L		NM_005715	NP_005706	Q9Y2C2	UST_HUMAN	Homo sapiens uronyl-2-sulfotransferase (UST), mRNA.	245					protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		ACCCCAGGTTATTTTACATCA	0.463													5	173					0	0	1	0	0	G	149340328	A	G	149340328	2	3	149	1	0	0	0	0	0	0	0	1	17090	446	16	3		3	UST	6	149340328	Silent	SNP	A	TCGA-FG-8188-01A-11D-2253-08	58679323	149340328	21774739	22	6745											
RAMP3	10268	broad.mit.edu	37	chr7	45222924	45222924	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccccagacgaggttctcatCccgctgatcgttatacccgt	7	10	8	16	4	1	2	1	1	1	1	4	3	2	2	4	1	1	3	4	1	2	3			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr7:45222924C>T	uc003tnb.3	+	2	421	c.360C>T	c.(358-360)atC>atT	p.I120I		NM_005856	NP_005847	O60896	RAMP3_HUMAN	Homo sapiens receptor (G protein-coupled) activity modifying protein 3 (RAMP3), mRNA.	120					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	AGGTTCTCATCCCGCTGATCG	0.632													13	230					0	0	1	0	0	T	45222924	C	T	45222924	2	4	149	1	0	0	0	0	0	0	0	1	13023	845	30	3		3	RAMP3	7	45222924	Silent	SNP	C	TCGA-FG-8188-01A-11D-2253-08		45222924	113915739	23	6746											
MKRN1	23608	broad.mit.edu	37	chr7	140154921	140154922	+	Frame_Shift_Del	DEL	TC	TC	-																															tctgcttgatgttcccacttTctgtctctgtggctcctctc																								rs1062780		TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr7:140154921_140154922delTC	uc003vvt.2	-	6	1434_1435	c.1209_1210delGA	c.(1207-1212)cagaaafs	p.Q403fs	MKRN1_uc003vvs.2_Frame_Shift_Del_p.Q339fs|MKRN1_uc011krd.1_Frame_Shift_Del_p.Q137fs	NM_013446	NP_038474	Q9UHC7	MKRN1_HUMAN	Homo sapiens makorin ring finger protein 1 (MKRN1), transcript variant 1, mRNA.	403							ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					GTTCCCACTTTCTGTCTCTGTG	0.485													80	187	---	---	---	---						-	140154922	TC	-	140154921	7	5	149	1	0	1	0	1	0	0	0	0	9606	1792	62	0	246	0	MKRN1	7	140154921	Frame_Shift_Del	DEL	TC	TCGA-FG-8188-01A-11D-2253-08	94931997	140154921	18983742	24	6747											
SLC7A2	6542	broad.mit.edu	37	chr8	17396342	17396342	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctagcaactggaatgaagatAgaaacaagtggttataactc	17	9	9	6	0	0	3	0	1	0	2	1	4	0	4	0	2	4	2	0	2	9	4			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr8:17396342A>G	uc011kye.2	+	0	57	c.9A>G	c.(7-9)atA>atG	p.I3M	SLC7A2_uc011kyc.2_Intron|SLC7A2_uc011kyd.2_Missense_Mutation_p.I3M	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	0					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GAATGAAGATAGAAACAAGTG	0.388													17	62					0	0	1	0	0	G	17396342	A	G	17396342	3	3	149	1	0	0	0	0	1	0	0	0	14697	410	15	4	11	4	SLC7A2	8	17396342	Missense_Mutation	SNP	A	TCGA-FG-8188-01A-11D-2253-08		17396342	128967680	25	6748											
PRKDC	5591	broad.mit.edu	37	chr8	48706915	48706915	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaggaatagctttcgctgcTtatgatgaagggataaacaa	15	10	11	5	1	0	2	0	2	0	0	1	5	0	4	0	2	3	3	0	2	8	4			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr8:48706915T>C	uc003xqi.3	-	74	10660	c.10603A>G	c.(10603-10605)Agc>Ggc	p.S3535G	PRKDC_uc003xqj.3_Missense_Mutation_p.S3535G	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	3536	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTTTCGCTGCTTATGATGAAG	0.423								Non-homologous end-joining					9	14					0	0	1	0	0	C	48706915	T	C	48706915	3	2	149	1	0	0	0	0	1	0	0	0	12521	1609	56	4	1832	4	PRKDC	8	48706915	Missense_Mutation	SNP	T	TCGA-FG-8188-01A-11D-2253-08	31310573	48706915	97657107	26	6749											
RB1CC1	9821	broad.mit.edu	37	chr8	53570054	53570054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttaccacatacatttgtatCctgcattcgtctactgtcta	9	16	4	12	1	2	0	0	0	2	0	4	0	3	0	2	0	4	2	2	0	5	7			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr8:53570054C>T	uc003xre.4	-	14	2893	c.2335G>A	c.(2335-2337)Gat>Aat	p.D779N	RB1CC1_uc003xrf.4_Missense_Mutation_p.D779N	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	779					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ACATTTGTATCCTGCATTCGT	0.403													33	85					0	0	1	0	0	T	53570054	C	T	53570054	3	4	149	1	0	0	0	0	1	0	0	0	13099	855	30	3	2489	3	RB1CC1	8	53570054	Missense_Mutation	SNP	C	TCGA-FG-8188-01A-11D-2253-08	4863139	53570054	92793968	27	6750											
CDH23	64072	broad.mit.edu	37	chr10	73548698	73548698	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccattctgccccttgcaggAttatgacttgcttctgatct	6	15	7	13	0	3	2	0	2	3	0	3	3	3	3	3	1	3	2	3	1	1	5			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr10:73548698A>G	uc001jrx.4	+	43	6202	c.5812_splice	c.e43-1	p.D1938_splice		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1941	Cadherin 18.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCCTTGCAGGATTATGACTTG	0.547													14	25					0	0	1	0	0	G	73548698	A	G	73548698	5	3	149	1	0	0	0	0	0	0	1	0	3108	347	12	3	6341	3	CDH23	10	73548698	Splice_Site	SNP	A	TCGA-FG-8188-01A-11D-2253-08		73548698	61986049	28	6751											
KRTAP5-3	387266	broad.mit.edu	37	chr11	1629152	1629152	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacagcagctggactgggagCagctgggcttgcagcagctg	8	7	16	10	0	0	0	0	0	0	0	0	2	0	2	0	3	8	8	0	3	1	2			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr11:1629152C>G	uc001ltw.1	-	0	542	c.464G>C	c.(463-465)tGc>tCc	p.C155S	MOB2_uc001ltq.2_Intron	NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN	Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA.	155	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GGACTGGGAGCAGCTGGGCTT	0.627													6	224					0	0	1	0	0	G	1629152	C	G	1629152	3	3	149	1	0	0	0	0	1	0	0	0	8562	710	25	5	256	5	KRTAP5-3	11	1629152	Missense_Mutation	SNP	C	TCGA-FG-8188-01A-11D-2253-08		1629152	133377364	29	6752											
APLNR	187	broad.mit.edu	37	chr11	57003348	57003348	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagccctagtcaaccacAagggtctcctggctgtaggg	8	8	11	14	0	2	0	1	0	1	0	4	0	3	0	4	3	2	2	4	3	4	2			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr11:57003348A>G	uc001njo.3	-	0	1580	c.1131T>C	c.(1129-1131)ctT>ctC	p.L377L	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	377						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						AGTCAACCACAAGGGTCTCCT	0.612													22	34					0	0	1	0	0	G	57003348	A	G	57003348	2	3	149	1	0	0	0	0	0	0	0	1	777	117	5	3		3	APLNR	11	57003348	Silent	SNP	A	TCGA-FG-8188-01A-11D-2253-08	55374196	57003348	78003168	30	6753											
NADSYN1	55191	broad.mit.edu	37	chr11	71166162	71166162	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtacttacaggtattgAaattgccaaaaacagaggag	15	10	9	7	0	1	2	0	1	1	1	1	3	1	3	1	2	4	2	1	2	6	5			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr11:71166162A>G	uc001oqn.3	+	1	218	c.92A>G	c.(91-93)gAa>gGa	p.E31G	NADSYN1_uc001oqm.3_Non-coding_Transcript|NADSYN1_uc001oqo.3_5'UTR	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	Homo sapiens NAD synthetase 1 (NADSYN1), mRNA.	31	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ synthase (glutamine-hydrolyzing) activity|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ACAGGTATTGAAATTGCCAAA	0.438													18	40					0	0	1	0	0	G	71166162	A	G	71166162	3	3	149	1	0	0	0	0	1	0	0	0	10138	246	9	3	98	3	NADSYN1	11	71166162	Missense_Mutation	SNP	A	TCGA-FG-8188-01A-11D-2253-08	14162814	71166162	63840354	31	6754											
KRT81	3887	broad.mit.edu	37	chr12	52680930	52680930	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcctgtaggtggcgatctcGatgtccaggcccagcttgga	6	9	14	12	3	1	0	0	0	1	0	3	3	2	1	3	4	1	2	3	4	1	2			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr12:52680930G>A	uc001sab.3	-	6	1253	c.1203C>T	c.(1201-1203)atC>atT	p.I401I	KRT86_uc010snq.2_Intron|KRT86_uc009zmg.3_Intron|KRT81_uc001sac.3_Silent_p.I20I	NM_002281	NP_002272	Q14533	KRT81_HUMAN	Homo sapiens keratin 81 (KRT81), mRNA.	401	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGGCGATCTCGATGTCCAGGC	0.647													5	106					0	0	1	0	0	A	52680930	G	A	52680930	2	1	149	1	0	0	0	0	0	0	0	1	8495	1048	37	2		2	KRT81	12	52680930	Silent	SNP	G	TCGA-FG-8188-01A-11D-2253-08		52680930	81170965	32	6755											
RYR3	6263	broad.mit.edu	37	chr15	33893721	33893721	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgccccggagaaacctactCctgcagacacgactgattaa	12	7	8	14	2	0	3	0	1	0	2	1	5	1	3	4	1	4	1	4	1	3	2			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr15:33893721C>G	uc001zhi.3	+	16	1960	c.1890C>G	c.(1888-1890)ctC>ctG	p.L630L	RYR3_uc010bar.3_Silent_p.L630L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	630	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAAACCTACTCCTGCAGACAC	0.512													23	24					0	0	1	0	0	G	33893721	C	G	33893721	2	3	149	1	0	0	0	0	0	0	0	1	13770	842	30	5		5	RYR3	15	33893721	Silent	SNP	C	TCGA-FG-8188-01A-11D-2253-08		33893721	68637671	33	6756											
KIAA0556	23247	broad.mit.edu	37	chr16	27786309	27786309	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaactccctggagggtgtGggcggggacgtccgcacccc	5	6	17	13	3	0	1	0	1	0	0	2	3	2	3	4	5	1	1	4	5	1	0			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr16:27786309G>A	uc002dow.3	+	23	4377	c.4353G>A	c.(4351-4353)gtG>gtA	p.V1451V		NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	1451										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TGGAGGGTGTGGGCGGGGACG	0.627													14	75					0	0	1	0	0	A	27786309	G	A	27786309	2	1	149	1	0	0	0	0	0	0	0	1	8183	1335	47	3		3	KIAA0556	16	27786309	Silent	SNP	G	TCGA-FG-8188-01A-11D-2253-08		27786309	62568444	34	6757											
RAP1GAP2	23108	broad.mit.edu	37	chr17	2909299	2909299	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctcaccaatgccgagaaCgcctgctgcaagtcggacaa	13	5	10	13	3	1	1	1	0	0	1	2	3	1	2	3	1	5	3	3	1	5	0			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr17:2909299C>T	uc010ckd.3	+	15	1413	c.1323C>T	c.(1321-1323)aaC>aaT	p.N441N	RAP1GAP2_uc010cke.3_Silent_p.N426N	NM_015085	NP_055900	Q684P5	RPGP2_HUMAN	Homo sapiens RAP1 GTPase activating protein 2 (RAP1GAP2), transcript variant 1, mRNA.	441	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						ATGCCGAGAACGCCTGCTGCA	0.572													5	148					0	0	1	0	0	T	2909299	C	T	2909299	2	4	149	1	0	0	0	0	0	0	0	1	13038	535	19	1		1	RAP1GAP2	17	2909299	Silent	SNP	C	TCGA-FG-8188-01A-11D-2253-08		2909299	78285911	35	6758											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			11	13					0	0	1	0	0	A	7577121	G	A	7577121	3	1	149	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-FG-8188-01A-11D-2253-08	4667822	7577121	73618089	36	6759											
TP53	7157	broad.mit.edu	37	chr17	7578457	7578457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtagatggccatggcgCggacgcgggtgccgggcggg	4	6	21	10	6	0	1	0	0	0	1	0	2	0	2	2	6	1	2	2	6	1	2			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr17:7578457C>T	uc002gim.2	-	4	667	c.473G>A	c.(472-474)cGc>cAc	p.R158H	TP53_uc002gig.1_Missense_Mutation_p.R158H|TP53_uc002gih.3_Missense_Mutation_p.R158H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R26H|TP53_uc010cnf.1_Missense_Mutation_p.R26H|TP53_uc002gii.1_Missense_Mutation_p.R26H|TP53_uc010cni.1_Missense_Mutation_p.R158H|TP53_uc010cnh.1_Missense_Mutation_p.R158H|TP53_uc002gij.2_Missense_Mutation_p.R158H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R65H|TP53_uc002gio.2_Missense_Mutation_p.R26H|TP53_uc010vug.2_Missense_Mutation_p.R119H	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	158	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V157F(151)|p.R158H(140)|p.R158L(138)|p.R158P(18)|p.R158C(18)|p.R158G(12)|p.V157I(10)|p.R158fs*11(9)|p.R65L(8)|p.V157D(8)|p.R158fs(8)|p.0?(8)|p.R26L(8)|p.R158_A159insX(8)|p.V157G(7)|p.V157L(6)|p.R158R(6)|p.R158fs*12(6)|p.V157V(5)|p.R65H(5)|p.R26H(5)|p.R158_A159delRA(4)|p.R156_I162delRVRAMAI(4)|p.V157fs*9(4)|p.V157fs*22(4)|p.V157fs*13(3)|p.V157_C176del20(2)|p.R65fs(2)|p.R156_A161delRVRAMA(2)|p.R158F(2)|p.P151_V173del23(2)|p.R156_R158delRVR(2)|p.V157del(2)|p.R156_A161del(2)|p.P153fs*22(2)|p.V157_M160delVRAM(2)|p.V157_R158delVR(2)|p.T155_A161delTRVRAMA(2)|p.R26fs(2)|p.V157_I162delVRAMAI(2)|p.V157fs*21(2)|p.R158fs*8(2)|p.V157fs*24(2)|p.R158fs*24(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156fs*18(1)|p.V157A(1)|p.R26fs*11(1)|p.R158_A159insXX(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R158_A161del(1)|p.R156fs*20(1)|p.V157fs*25(1)|p.V157fs*23(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)		GGCCATGGCGCGGACGCGGGT	0.627		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)			49	65					0	0	1	0	0	T	7578457	C	T	7578457	3	4	149	1	0	0	0	0	1	0	0	0	16378	768	27	1	825	1	TP53	17	7578457	Missense_Mutation	SNP	C	TCGA-FG-8188-01A-11D-2253-08	1336	7578457	73616753	37	6760											
DNAH9	1770	broad.mit.edu	37	chr17	11795176	11795176	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggtggccaacctaatagAcagcataaccttctctgtgt	10	10	10	11	1	1	1	0	0	1	1	2	1	1	1	3	2	3	1	3	2	4	4			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr17:11795176A>G	uc002gne.3	+	57	11263	c.11195A>G	c.(11194-11196)gAc>gGc	p.D3732G	DNAH9_uc010coo.3_Missense_Mutation_p.D3026G|DNAH9_uc002gnf.3_Missense_Mutation_p.D44G|DNAH9_uc010vvh.1_Missense_Mutation_p.D85G	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3732					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AACCTAATAGACAGCATAACC	0.542													6	170					0	0	1	0	0	G	11795176	A	G	11795176	3	3	149	1	0	0	0	0	1	0	0	0	4608	275	10	3	11425	3	DNAH9	17	11795176	Missense_Mutation	SNP	A	TCGA-FG-8188-01A-11D-2253-08	4216719	11795176	69400034	38	6761											
ASPSCR1	79058	broad.mit.edu	37	chr17	79943447	79943447	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctttctgttcaggccagaCcctctgggagcttctcagcc	5	12	9	15	0	5	1	2	0	4	1	6	2	5	2	3	2	2	2	3	2	0	3			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr17:79943447C>G	uc002kcy.3	+	3	435	c.338C>G	c.(337-339)aCc>aGc	p.T113S	ASPSCR1_uc002kcx.3_Missense_Mutation_p.T113S|ASPSCR1_uc021ufj.1_Missense_Mutation_p.T36S|ASPSCR1_uc002kda.3_Missense_Mutation_p.T36S|ASPSCR1_uc002kdb.1_Missense_Mutation_p.T36S	NM_001251888	NP_001238817	Q9BZE9	ASPC1_HUMAN	Homo sapiens alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1), transcript variant 2, mRNA.	113							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TCAGGCCAGACCCTCTGGGAG	0.542			T	TFE3	alveolar soft part sarcoma								4	80					0	0	1	0	0	G	79943447	C	G	79943447	3	3	149	1	0	0	0	0	1	0	0	0	1059	507	18	5	352	5	ASPSCR1	17	79943447	Missense_Mutation	SNP	C	TCGA-FG-8188-01A-11D-2253-08	68148271	79943447	1251763	39	6762											
HMHA1	23526	broad.mit.edu	37	chr19	1085938	1085938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgcaggccccactgccccCcatgaggctccgtggcgggc	4	5	14	18	2	0	1	0	1	0	0	1	1	1	1	6	4	2	3	6	4	0	0	rs146748497		TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr19:1085938C>T	uc002lqz.1	+	22	3575	c.3344C>T	c.(3343-3345)cCc>cTc	p.P1115L	HMHA1_uc010xgd.1_Missense_Mutation_p.P1131L|HMHA1_uc010xge.1_Missense_Mutation_p.P983L|HMHA1_uc002lra.1_Missense_Mutation_p.P955L|HMHA1_uc002lrb.1_Missense_Mutation_p.P998L|HMHA1_uc002lrc.1_Missense_Mutation_p.P750L	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	1115					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)		CCACTGCCCCCCATGAGGCTC	0.682													10	191					0	0	1	0	0	T	1085938	C	T	1085938	3	4	149	1	0	0	0	0	1	0	0	0	7240	623	22	3	3434	3	HMHA1	19	1085938	Missense_Mutation	SNP	C	TCGA-FG-8188-01A-11D-2253-08		1085938	58043045	40	6763											
SIGLEC11	114132	broad.mit.edu	37	chr19	50464040	50464040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgtctttgggctggtccGtcctttgaaccagtagccat	6	12	10	13	2	1	1	0	1	1	0	3	1	3	1	5	2	2	2	5	2	2	3	rs148651187	by1000genomes	TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr19:50464040G>A	uc010ybh.2	-	1	320	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	SIGLEC11_uc010ybi.2_Missense_Mutation_p.R77W	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	77	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GGGCTGGTCCGTCCTTTGAAC	0.607													3	30					0	0	1	0	0	A	50464040	G	A	50464040	3	1	149	1	0	0	0	0	1	0	0	0	14307	1144	40	1	1907	1	SIGLEC11	19	50464040	Missense_Mutation	SNP	G	TCGA-FG-8188-01A-11D-2253-08	49378102	50464040	8664943	41	6764											
DBNDD2	55861	broad.mit.edu	37	chr20	44038638	44038640	+	In_Frame_Del	DEL	CCT	CCT	-																															agacaggaccacatctaggaCctcctcctcctcctcctccg																										TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr20:44038638_44038640delCCT	uc002xof.3	+	2	823_825	c.650_652delCCT	c.(649-654)acctcc>acc	p.S223del	DBNDD2_uc002xnx.3_In_Frame_Del_p.S121del|DBNDD2_uc021wei.1_In_Frame_Del_p.S121del|DBNDD2_uc002xnz.3_In_Frame_Del_p.S121del|DBNDD2_uc002xoa.3_3'UTR|DBNDD2_uc021wej.1_In_Frame_Del_p.S121del|DBNDD2_uc002xob.3_In_Frame_Del_p.S219del|DBNDD2_uc002xoc.3_In_Frame_Del_p.S121del|DBNDD2_uc002xod.3_3'UTR|DBNDD2_uc002xog.3_3'UTR	NM_001048225	NP_001041690	Q9BQY9	DBND2_HUMAN	Homo sapiens dysbindin (dystrobrevin binding protein 1) domain containing 2 (DBNDD2), transcript variant 5, mRNA.	219					negative regulation of protein kinase activity	cytoplasm	protein binding			breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				ACATCTAGGAcctcctcctcctc	0.567													3	4	---	---	---	---						-	44038640	CCT	-	44038638	7	5	149	1	0	1	0	1	0	0	0	0	4254	507	18	0	416	0	DBNDD2	20	44038638	In_Frame_Del	DEL	CCT	TCGA-FG-8188-01A-11D-2253-08		44038638	18986882	42	6765											
KRTAP10-12	386685	broad.mit.edu	37	chr21	46117134	46117134	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accatgtccgtctgctccagCgacctgagctatggcagccg	7	8	11	15	3	1	1	0	1	1	0	3	2	3	1	5	1	4	3	5	1	1	1			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr21:46117134C>T	uc002zfw.1	+	0	48	c.18C>T	c.(16-18)agC>agT	p.S6S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198699	NP_941972	P60413	KR10C_HUMAN	Homo sapiens keratin associated protein 10-12 (KRTAP10-12), mRNA.	6						keratin filament				large_intestine(1)|lung(8)	9						TCTGCTCCAGCGACCTGAGCT	0.642													27	166					0	0	1	0	0	T	46117134	C	T	46117134	2	4	149	1	0	0	0	0	0	0	0	1	8508	767	27	1		1	KRTAP10-12	21	46117134	Silent	SNP	C	TCGA-FG-8188-01A-11D-2253-08		46117134	2012761	43	6766											
ACOT9	23597	broad.mit.edu	37	chrX	23748659	23748659	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtacctcccaagctgtcaaGatcctcaagaatcctgccaa	13	8	6	14	0	2	2	2	0	0	2	5	2	5	2	5	0	3	2	5	0	6	1			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chrX:23748659G>T	uc004dao.3	-	5	531	c.385C>A	c.(385-387)Ctt>Att	p.L129I	ACOT9_uc004dap.3_Missense_Mutation_p.L120I|ACOT9_uc011mjt.2_Non-coding_Transcript|ACOT9_uc004dar.3_Missense_Mutation_p.L60I|ACOT9_uc004dat.1_Missense_Mutation_p.L120I	NM_001037171	NP_001032248	Q9Y305	ACOT9_HUMAN	Homo sapiens acyl-CoA thioesterase 9 (ACOT9), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	120					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						AAGCTGTCAAGATCCTCAAGA	0.343													37	12					2.43139e-17	2.52144e-17	1	1	0	T	23748659	G	T	23748659	3	4	149	1	0	0	0	0	1	0	0	0	157	942	33	5	1005	5	ACOT9	23	23748659	Missense_Mutation	SNP	G	TCGA-FG-8188-01A-11D-2253-08		23748659	131521901	44	6767											
ATRX	546	broad.mit.edu	37	chrX	76939473	76939474	+	Frame_Shift_Del	DEL	TT	TT	-																															tgctctttggtatttttctcTttgtttacagcatccatcgc																										TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chrX:76939473_76939474delTT	uc004ecp.4	-	8	1506_1507	c.1274_1275delAA	c.(1273-1275)aaafs	p.K425fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K387fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K210fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K386fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K425fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K370fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	425					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TATTTTTCTCTTTGTTTACAGC	0.361			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						79	35	---	---	---	---						-	76939474	TT	-	76939473	7	5	149	1	0	1	0	1	0	0	0	0	1208	1606	56	0	6311	0	ATRX	23	76939473	Frame_Shift_Del	DEL	TT	TCGA-FG-8188-01A-11D-2253-08	53190814	76939473	78331087	45	6768											
PCDH19	57526	broad.mit.edu	37	chrX	99663560	99663562	+	In_Frame_Del	DEL	CAG	CAG	-																															gcctgcgtccacagtatggcCagcagcagcagcaccggcag																										TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chrX:99663560_99663562delCAG	uc010nmz.3	-	0	1710_1712	c.34_36delCTG	c.(34-36)ctgdel	p.L12del	PCDH19_uc004efw.4_In_Frame_Del_p.L12del|PCDH19_uc004efx.4_In_Frame_Del_p.L12del	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	12					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						ACAGTATGGCCAGCAGCAGCAGC	0.665													2	4	---	---	---	---						-	99663562	CAG	-	99663560	7	5	149	1	0	1	0	1	0	0	0	0	11514	581	21	0	3434	0	PCDH19	23	99663560	In_Frame_Del	DEL	CAG	TCGA-FG-8188-01A-11D-2253-08	22724087	99663560	55607000	46	6769											
GPC4	2239	broad.mit.edu	37	chrX	132458383	132458383	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggaacatccgctccaggagGcgagcccagaagtcatttag	11	6	12	12	3	1	1	1	0	0	1	3	4	3	3	3	3	2	1	3	3	3	2			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chrX:132458383G>A	uc004exc.1	-	2	713	c.501C>T	c.(499-501)cgC>cgT	p.R167R	GPC4_uc011mvg.1_Silent_p.R97R	NM_001448	NP_001439	O75487	GPC4_HUMAN	Homo sapiens glypican 4 (GPC4), mRNA.	167					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GCTCCAGGAGGCGAGCCCAGA	0.468													21	84					0	0	1	0	0	A	132458383	G	A	132458383	2	1	149	1	0	0	0	0	0	0	0	1	6600	1190	42	3		3	GPC4	23	132458383	Silent	SNP	G	TCGA-FG-8188-01A-11D-2253-08	32794823	132458383	22812177	47	6770											
FMR1	2332	broad.mit.edu	37	chrX	147010283	147010283	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgccacaaaagatacttTccataagatcaagctggatg	15	9	7	10	0	1	2	1	0	0	2	2	3	2	3	3	1	3	1	3	1	5	3			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chrX:147010283T>C	uc010nst.3	+	4	606	c.377T>C	c.(376-378)tTc>tCc	p.F126S	FMR1_uc011mwz.2_Missense_Mutation_p.F126S|FMR1_uc004fcj.3_Missense_Mutation_p.F126S|FMR1_uc022cgc.1_Missense_Mutation_p.F126S|FMR1_uc022cgd.1_Non-coding_Transcript|FMR1_uc004fck.4_Missense_Mutation_p.F126S|FMR1_uc022cge.1_Missense_Mutation_p.F126S|FMR1_uc022cgf.1_Missense_Mutation_p.F126S|FMR1_uc022cgg.1_Non-coding_Transcript|FMR1_uc004fcl.4_5'UTR|FMR1_uc011mxa.2_5'Flank	NM_002024	NP_002015	Q06787	FMR1_HUMAN	Homo sapiens fragile X mental retardation 1 (FMR1), transcript variant ISO1, mRNA.	126					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGATACTTTCCATAAGATC	0.368									Fragile X syndrome				10	63					0	0	1	0	0	C	147010283	T	C	147010283	3	2	149	1	0	0	0	0	1	0	0	0	5960	1783	62	3	395	3	FMR1	23	147010283	Missense_Mutation	SNP	T	TCGA-FG-8188-01A-11D-2253-08	14551900	147010283	8260277	48	6771											
FAM129A	116496	broad.mit.edu	37	chr1	184863335	184863335	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatagttccaggcgccaaTggtggcttaaagaagatgaa	16	8	11	6	1	0	3	0	1	0	2	1	3	1	3	2	3	0	2	2	3	8	3			TCGA-FG-8189-01B-11D-A289-08	TCGA-FG-8189-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec88520-3464-4c47-afcc-36130f51125e	13bc5e25-1a60-4107-b129-99b0995a6897	g.chr1:184863335T>C	uc001gra.3	-	2	386	c.192A>G	c.(190-192)ccA>ccG	p.P64P	FAM129A_uc009wyh.1_Silent_p.P64P|FAM129A_uc009wyi.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	64					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CAGGCGCCAATGGTGGCTTAA	0.343													5	54					0	0	1	0	0	C	184863335	T	C	184863335	2	2	150	1	0	0	0	0	0	0	0	1	5436	1451	51	3		3	FAM129A	1	184863335	Silent	SNP	T	TCGA-FG-8189-01B-11D-A289-08		184863335	64387286	1	6772											
RYR2	6262	broad.mit.edu	37	chr1	237954771	237954771	+	Frame_Shift_Del	DEL	T	T	-																															acaacatgagaatgttagccTtatttgtcgcatttgctatc																										TCGA-FG-8189-01B-11D-A289-08	TCGA-FG-8189-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec88520-3464-4c47-afcc-36130f51125e	13bc5e25-1a60-4107-b129-99b0995a6897	g.chr1:237954771delT	uc001hyl.1	+	92	13639	c.13519delT	c.(13519-13521)ttafs	p.L4507fs	RYR2_uc010pyb.1_5'Flank	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4507					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AATGTTAGCCTTATTTGTCGC	0.343													2	4	---	---	---	---						-	237954771	T	-	237954771	7	5	150	1	0	1	0	1	0	0	0	0	13769	1606	56	0	13889	0	RYR2	1	237954771	Frame_Shift_Del	DEL	T	TCGA-FG-8189-01B-11D-A289-08	53091436	237954771	11295850	2	6773											
NHEJ1	79840	broad.mit.edu	37	chr2	220012390	220012390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctcttacctcgaatcagcGtagccccactctcctggtag	7	11	7	16	2	3	0	1	0	2	0	6	1	4	0	5	1	3	2	5	1	4	3			TCGA-FG-8189-01B-11D-A289-08	TCGA-FG-8189-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec88520-3464-4c47-afcc-36130f51125e	13bc5e25-1a60-4107-b129-99b0995a6897	g.chr2:220012390G>A	uc002vjp.4	-	3	664	c.518C>T	c.(517-519)aCg>aTg	p.T173M	NHEJ1_uc002vjq.4_Non-coding_Transcript	NM_024782	NP_079058	Q9H9Q4	NHEJ1_HUMAN	Homo sapiens nonhomologous end-joining factor 1 (NHEJ1), mRNA.	173					B cell differentiation|DNA recombination|T cell differentiation|central nervous system development|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding			kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		TCGAATCAGCGTAGCCCCACT	0.478								Non-homologous end-joining					4	54					0	0	1	0	0	A	220012390	G	A	220012390	3	1	150	1	0	0	0	0	1	0	0	0	10402	1145	40	1	401	1	NHEJ1	2	220012390	Missense_Mutation	SNP	G	TCGA-FG-8189-01B-11D-A289-08		220012390	23186983	3	6774											
ITPR3	3710	broad.mit.edu	37	chr6	33632679	33632679	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggctgcggcacctctgcaCcaacacgtggattcagagca	9	6	11	15	3	2	1	1	0	1	1	2	2	2	2	3	3	4	4	3	3	1	1			TCGA-FG-8189-01B-11D-A289-08	TCGA-FG-8189-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec88520-3464-4c47-afcc-36130f51125e	13bc5e25-1a60-4107-b129-99b0995a6897	g.chr6:33632679C>A	uc021ywr.1	+	11	1405	c.1181C>A	c.(1180-1182)aCc>aAc	p.T394N		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	394	MIR 5.				G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	p.T394N(6)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CACCTCTGCACCAACACGTGG	0.662													4	54					0.184627	0.194345	1	1	0	A	33632679	C	A	33632679	3	1	150	1	0	0	0	0	1	0	0	0	7922	507	18	5	1227	5	ITPR3	6	33632679	Missense_Mutation	SNP	C	TCGA-FG-8189-01B-11D-A289-08		33632679	137482388	4	6775											
RSPH3	83861	broad.mit.edu	37	chr6	159403544	159403544	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcggtgtcgcctctcttgCtcttcaagtcgttgaacttc	4	16	8	13	3	4	1	1	1	3	0	9	1	4	1	1	1	2	2	1	1	2	4			TCGA-FG-8189-01B-11D-A289-08	TCGA-FG-8189-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec88520-3464-4c47-afcc-36130f51125e	13bc5e25-1a60-4107-b129-99b0995a6897	g.chr6:159403544C>T	uc003qrx.3	-	4	1285	c.1095G>A	c.(1093-1095)gaG>gaA	p.E365E	RSPH3_uc010kju.3_Silent_p.E269E	NM_031924	NP_114130	Q86UC2	RSPH3_HUMAN	Homo sapiens radial spoke 3 homolog (Chlamydomonas) (RSPH3), mRNA.	365										endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|skin(1)|stomach(7)	23		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.36e-16)|BRCA - Breast invasive adenocarcinoma(81;5.92e-06)		GCCTCTCTTGCTCTTCAAGTC	0.398													5	28					0	0	1	0	0	T	159403544	C	T	159403544	2	4	150	1	0	0	0	0	0	0	0	1	13705	796	28	3		3	RSPH3	6	159403544	Silent	SNP	C	TCGA-FG-8189-01B-11D-A289-08	125770865	159403544	11711523	5	6776											
FREM1	158326	broad.mit.edu	37	chr9	14845980	14845980	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttaaagtcagccatccatgCtgcaggccaccaacggtgac	11	7	9	14	1	1	1	1	1	0	0	2	1	2	1	4	2	4	2	4	2	3	1			TCGA-FG-8189-01B-11D-A289-08	TCGA-FG-8189-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec88520-3464-4c47-afcc-36130f51125e	13bc5e25-1a60-4107-b129-99b0995a6897	g.chr9:14845980C>A	uc003zlm.3	-	8	2187	c.1371G>T	c.(1369-1371)caG>caT	p.Q457H	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	457					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCCATCCATGCTGCAGGCCAC	0.443													3	27					1	1	1	1	0	A	14845980	C	A	14845980	3	1	150	1	0	0	0	0	1	0	0	0	6044	796	28	5	5338	5	FREM1	9	14845980	Missense_Mutation	SNP	C	TCGA-FG-8189-01B-11D-A289-08		14845980	126367451	6	6777											
LRRC4C	57689	broad.mit.edu	37	chr11	40137057	40137057	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgactgaaggttgtcaaaGgcattccgttcaatcacttg	11	12	10	8	1	3	2	3	2	0	0	4	2	4	2	1	2	0	3	1	2	3	4			TCGA-FG-8189-01B-11D-A289-08	TCGA-FG-8189-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec88520-3464-4c47-afcc-36130f51125e	13bc5e25-1a60-4107-b129-99b0995a6897	g.chr11:40137057G>C	uc021qgf.1	-	0	786	c.786C>G	c.(784-786)gcC>gcG	p.A262A	LRRC4C_uc001mxc.1_Silent_p.A258A|LRRC4C_uc001mxd.1_Silent_p.A258A|LRRC4C_uc001mxa.1_Silent_p.A262A|LRRC4C_uc001mxb.1_Silent_p.A258A	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	262					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GGTTGTCAAAGGCATTCCGTT	0.453													7	104					0	0	1	0	0	C	40137057	G	C	40137057	2	2	150	1	0	0	0	0	0	0	0	1	9008	987	35	5		5	LRRC4C	11	40137057	Silent	SNP	G	TCGA-FG-8189-01B-11D-A289-08		40137057	94869459	7	6778											
FGF4	2249	broad.mit.edu	37	chr11	69588192	69588192	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggggtacttgtaggactcgTaggcgttgtagttgttggga	6	13	17	5	3	0	0	0	0	0	0	1	2	0	2	0	5	1	7	0	5	4	8			TCGA-FG-8189-01B-11D-A289-08	TCGA-FG-8189-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec88520-3464-4c47-afcc-36130f51125e	13bc5e25-1a60-4107-b129-99b0995a6897	g.chr11:69588192T>G	uc001opg.1	-	2	825	c.506A>C	c.(505-507)tAc>tCc	p.Y169S	FGF4_uc010rqj.1_3'UTR	NM_002007	NP_001998	P08620	FGF4_HUMAN	Homo sapiens fibroblast growth factor 4 (FGF4), mRNA.	169					cell-cell signaling|chondroblast differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity|heparin binding			lung(3)	3	Melanoma(5;1.89e-05)		LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		Pentosan Polysulfate(DB00686)	GTAGGACTCGTAGGCGTTGTA	0.567													15	174					0	0	1	0	0	G	69588192	T	G	69588192	3	3	150	1	0	0	0	0	1	0	0	0	5854	1638	57	5	118	5	FGF4	11	69588192	Missense_Mutation	SNP	T	TCGA-FG-8189-01B-11D-A289-08	29451135	69588192	65418324	8	6779											
IDH2	3418	broad.mit.edu	37	chr15	90631839	90631839	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcgccatgggcgtgccTgccaatggtgatgggcttgg	4	10	17	10	2	0	1	0	1	0	0	1	1	0	1	3	5	2	1	3	5	1	1			TCGA-FG-8189-01B-11D-A289-08	TCGA-FG-8189-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec88520-3464-4c47-afcc-36130f51125e	13bc5e25-1a60-4107-b129-99b0995a6897	g.chr15:90631839T>A	uc002box.3	-	3	600	c.514A>T	c.(514-516)Agg>Tgg	p.R172W	IDH2_uc010uqb.2_Missense_Mutation_p.R120W|IDH2_uc010uqc.2_Missense_Mutation_p.R42W	NM_002168	NP_002159	P48735	IDHP_HUMAN	Homo sapiens isocitrate dehydrogenase 2 (NADP+), mitochondrial (IDH2), nuclear gene encoding mitochondrial protein, mRNA.	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding	p.R172K(242)|p.R172W(28)|p.R172M(23)|p.R172S(18)|p.R172?(13)|p.R172G(7)|p.G171D(4)|p.R172L(1)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			TGGGCGTGCCTGCCAATGGTG	0.627			M		GBM								8	80					0	0	1	0	0	A	90631839	T	A	90631839	3	1	150	1	0	0	0	0	1	0	0	0	7495	1579	55	5	876	5	IDH2	15	90631839	Missense_Mutation	SNP	T	TCGA-FG-8189-01B-11D-A289-08		90631839	11899553	9	6780											
PRPS1	5631	broad.mit.edu	37	chrX	106890921	106890921	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctatttctcgcatcaacaacGcatgctttgaggcagtagta	11	12	8	10	2	2	1	1	1	1	0	3	1	2	1	0	1	3	6	0	1	5	5			TCGA-FG-8189-01B-11D-A289-08	TCGA-FG-8189-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec88520-3464-4c47-afcc-36130f51125e	13bc5e25-1a60-4107-b129-99b0995a6897	g.chrX:106890921G>A	uc004ene.4	+	5	995	c.790G>A	c.(790-792)Gca>Aca	p.A264T	PRPS1_uc011msj.2_Missense_Mutation_p.A60T|PRPS1_uc010npg.3_Missense_Mutation_p.A231T	NM_002764	NP_002755	P60891	PRPS1_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1 (PRPS1), transcript variant 1, mRNA.	264					5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						CATCAACAACGCATGCTTTGA	0.453													10	109					0	0	1	0	0	A	106890921	G	A	106890921	3	1	150	1	0	0	0	0	1	0	0	0	12578	1087	38	1	812	1	PRPS1	23	106890921	Missense_Mutation	SNP	G	TCGA-FG-8189-01B-11D-A289-08		106890921	48379639	10	6781											
CD99L2	83692	broad.mit.edu	37	chrX	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-																															tggttcctggcctattggttGtggtggtggtggtgtggtcc																										TCGA-FG-8189-01B-11D-A289-08	TCGA-FG-8189-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec88520-3464-4c47-afcc-36130f51125e	13bc5e25-1a60-4107-b129-99b0995a6897	g.chrX:149984524_149984526delGTG	uc004fek.3	-	2	384_386	c.156_158delCAC	c.(154-159)accaca>aca	p.52_53TT>T	CD99L2_uc011myb.2_In_Frame_Del_p.52_53TT>T|CD99L2_uc004feo.3_Non-coding_Transcript|CD99L2_uc004fel.3_In_Frame_Del_p.52_53TT>T|CD99L2_uc004fem.3_Intron|CD99L2_uc004fen.3_Intron	NM_001242614	NP_001229543	Q8TCZ2	C99L2_HUMAN	Homo sapiens CD99 molecule-like 2 (CD99L2), transcript variant 5, mRNA.	52	Poly-Thr.				cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552													7	347	---	---	---	---						-	149984526	GTG	-	149984524	7	5	150	1	0	1	0	1	0	0	0	0	3051	1377	48	0	666	0	CD99L2	23	149984524	In_Frame_Del	DEL	GTG	TCGA-FG-8189-01B-11D-A289-08	43093603	149984524	5286036	11	6782											
ZMYM6	9204	broad.mit.edu	37	chr1	35476495	35476495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggctgcagcagagccaCggatggagctgggggaaacg	9	4	19	9	2	0	1	0	0	0	1	0	4	0	4	1	6	5	5	1	6	1	0			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr1:35476495C>T	uc001byh.3	-	8	1433	c.1205G>A	c.(1204-1206)cGt>cAt	p.R402H	ZMYM6_uc001byf.1_Missense_Mutation_p.R402H|ZMYM6_uc010oht.2_Missense_Mutation_p.R305H|ZMYM6_uc009vup.3_Missense_Mutation_p.R208H|ZMYM6_uc009vuq.1_Missense_Mutation_p.R402H|ZMYM6_uc009vur.1_Missense_Mutation_p.R208H	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	Homo sapiens zinc finger, MYM-type 6 (ZMYM6), mRNA.	402					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				AGCAGAGCCACGGATGGAGCT	0.547													8	68					0	0	1	0	0	T	35476495	C	T	35476495	3	4	151	1	0	0	0	0	1	0	0	0	17701	536	19	1	2804	1	ZMYM6	1	35476495	Missense_Mutation	SNP	C	TCGA-FG-8191-01A-11D-2253-08		35476495	213774126	1	6783											
FAF1	11124	broad.mit.edu	37	chr1	50907162	50907162	+	Frame_Shift_Del	DEL	C	C	-																															ttgagggaacaactttacctCcaataatgatttatttgggt																										TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr1:50907162delC	uc001cse.1	-	18	2356	c.1903delG	c.(1903-1905)gagfs	p.E635fs	FAF1_uc009vyw.1_Non-coding_Transcript|FAF1_uc010onc.1_Frame_Shift_Del_p.E393fs	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	Homo sapiens Fas (TNFRSF6) associated factor 1 (FAF1), mRNA.	635	UBX.				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	NF-kappaB binding|heat shock protein binding|protein kinase binding|protein kinase regulator activity			breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		AACTTTACCTCCAATAATGAT	0.423													2	4	---	---	---	---						-	50907162	C	-	50907162	7	5	151	1	0	1	0	1	0	0	0	0	5369	864	30	0	53	0	FAF1	1	50907162	Frame_Shift_Del	DEL	C	TCGA-FG-8191-01A-11D-2253-08	15430667	50907162	198343459	2	6784											
SEC16B	89866	broad.mit.edu	37	chr1	177909803	177909803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtccctgtctccactgCgtctttctaaaaccagagga	9	10	8	14	1	3	1	0	0	3	1	5	2	4	2	4	2	2	0	4	2	2	2			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr1:177909803C>T	uc001glj.1	-	21	2938	c.2072G>A	c.(2071-2073)cGc>cAc	p.R691H	SEC16B_uc001glk.1_Missense_Mutation_p.R367H|SEC16B_uc009wwy.1_Missense_Mutation_p.R245H|SEC16B_uc001glh.1_Missense_Mutation_p.R349H|SEC16B_uc001gli.1_Missense_Mutation_p.R690H|SEC16B_uc009wwz.1_Missense_Mutation_p.R349H	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	690					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GTCTCCACTGCGTCTTTCTAA	0.562													21	22					0	0	1	0	0	T	177909803	C	T	177909803	3	4	151	1	0	0	0	0	1	0	0	0	13987	768	27	1	1153	1	SEC16B	1	177909803	Missense_Mutation	SNP	C	TCGA-FG-8191-01A-11D-2253-08	127002641	177909803	71340818	3	6785											
NID1	4811	broad.mit.edu	37	chr1	236144995	236144995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgtgccgtccagcttcGccacttctattcgatccagg	5	11	10	15	4	1	0	0	0	1	0	5	1	3	0	4	1	3	2	4	1	1	4			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr1:236144995G>A	uc001hxo.3	-	15	3245	c.3143C>T	c.(3142-3144)gCg>gTg	p.A1048V	NID1_uc009xgd.3_Missense_Mutation_p.A915V|NID1_uc009xgc.3_Missense_Mutation_p.A129V	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	1048					cell-matrix adhesion	basement membrane	calcium ion binding	p.A1048A(1)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GTCCAGCTTCGCCACTTCTAT	0.498													22	38					0	0	1	0	0	A	236144995	G	A	236144995	3	1	151	1	0	0	0	0	1	0	0	0	10414	1087	38	1	620	1	NID1	1	236144995	Missense_Mutation	SNP	G	TCGA-FG-8191-01A-11D-2253-08	58235192	236144995	13105626	4	6786											
RYR2	6262	broad.mit.edu	37	chr1	237754205	237754205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccatctagtgcccgatcGtgttgacaaagacaaagaag	13	8	11	9	2	1	3	0	1	1	2	2	4	1	3	2	1	1	1	2	1	4	2			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr1:237754205G>A	uc001hyl.1	+	30	4193	c.4073G>A	c.(4072-4074)cGt>cAt	p.R1358H		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1358	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTGCCCGATCGTGTTGACAAA	0.428													8	22					0	0	1	0	0	A	237754205	G	A	237754205	3	1	151	1	0	0	0	0	1	0	0	0	13769	1145	40	1	4195	1	RYR2	1	237754205	Missense_Mutation	SNP	G	TCGA-FG-8191-01A-11D-2253-08	1609210	237754205	11496416	5	6787											
LRP1B	53353	broad.mit.edu	37	chr2	141607789	141607789	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaagtctatcacagtaacGtcatcaatatcagggactgt	13	11	8	9	2	5	0	4	0	1	0	6	2	5	1	0	1	1	1	0	1	5	3			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr2:141607789G>A	uc002tvj.1	-	28	5793	c.4821C>T	c.(4819-4821)gaC>gaT	p.D1607D	LRP1B_uc010fnl.1_Silent_p.D789D	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1607					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D1607D(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCACAGTAACGTCATCAATAT	0.368										TSP Lung(27;0.18)			10	44					0	0	1	0	0	A	141607789	G	A	141607789	2	1	151	1	0	0	0	0	0	0	0	1	8955	1136	40	1		1	LRP1B	2	141607789	Silent	SNP	G	TCGA-FG-8191-01A-11D-2253-08		141607789	101591584	6	6788											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								23	43					0	0	1	0	0	T	209113112	C	T	209113112	3	4	151	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-8191-01A-11D-2253-08	67505323	209113112	34086261	7	6789											
OR5K4	403278	broad.mit.edu	37	chr3	98073379	98073379	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccttttgactgttttcaaaAtgaaatccaaggagggaaga	14	12	9	6	0	1	3	1	2	0	1	3	5	3	5	2	2	0	1	2	2	5	4			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr3:98073379A>T	uc011bgv.2	+	0	682	c.682A>T	c.(682-684)Atg>Ttg	p.M228L		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TGTTTTCAAAATGAAATCCAA	0.338													3	30					0	0	1	0	0	T	98073379	A	T	98073379	3	4	151	1	0	0	0	0	1	0	0	0	11169	101	4	5	684	5	OR5K4	3	98073379	Missense_Mutation	SNP	A	TCGA-FG-8191-01A-11D-2253-08		98073379	99949051	8	6790											
SNX18	112574	broad.mit.edu	37	chr5	53815358	53815358	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggacctattagcgctgtatCaggggcatctggctaacttc	8	12	11	10	1	2	0	1	0	1	0	3	1	2	1	1	4	2	4	1	4	4	5			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr5:53815358C>G	uc003jpj.4	+	0	1766	c.1576C>G	c.(1576-1578)Cag>Gag	p.Q526E	SNX18_uc011cqg.2_Missense_Mutation_p.Q526E|SNX18_uc003jpi.4_Missense_Mutation_p.Q526E	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN	Homo sapiens sorting nexin 18 (SNX18), transcript variant 2, mRNA.	526	BAR.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding	p.Q526H(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				AGCGCTGTATCAGGGGCATCT	0.557													6	117					0	0	1	0	0	G	53815358	C	G	53815358	3	3	151	1	0	0	0	0	1	0	0	0	14889	827	29	5	1578	5	SNX18	5	53815358	Missense_Mutation	SNP	C	TCGA-FG-8191-01A-11D-2253-08		53815358	127099902	9	6791											
IBTK	25998	broad.mit.edu	37	chr6	82912294	82912294	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctataaactgtaaacaagAcagtttcaactgttttgcac	14	13	5	9	0	1	1	1	0	0	1	2	1	2	1	1	0	4	4	1	0	7	6			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr6:82912294A>G	uc003pjl.1	-	17	3207	c.2680T>C	c.(2680-2682)Tct>Cct	p.S894P	IBTK_uc011dyu.1_5'UTR|IBTK_uc011dyv.1_Missense_Mutation_p.S894P|IBTK_uc011dyw.1_Missense_Mutation_p.S693P|IBTK_uc010kbi.1_Missense_Mutation_p.S588P|IBTK_uc003pjm.2_Missense_Mutation_p.S894P	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.	894					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TGTAAACAAGACAGTTTCAAC	0.343													14	111					0	0	1	0	0	G	82912294	A	G	82912294	3	3	151	1	0	0	0	0	1	0	0	0	7476	275	10	3	1429	3	IBTK	6	82912294	Missense_Mutation	SNP	A	TCGA-FG-8191-01A-11D-2253-08		82912294	88202773	10	6792											
SLC35F1	222553	broad.mit.edu	37	chr6	118588282	118588282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggaatgggctgcatggtggGagcagatgtgcttgtgggaa	8	9	20	4	0	0	1	0	0	0	1	0	4	0	4	0	5	3	4	0	5	2	1			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr6:118588282G>A	uc003pxx.4	+	3	803	c.602G>A	c.(601-603)gGa>gAa	p.G201E		NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN	Homo sapiens solute carrier family 35, member F1 (SLC35F1), mRNA.	201					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TGCATGGTGGGAGCAGATGTG	0.537													8	170					0	0	1	0	0	A	118588282	G	A	118588282	3	1	151	1	0	0	0	0	1	0	0	0	14588	1174	41	3	616	3	SLC35F1	6	118588282	Missense_Mutation	SNP	G	TCGA-FG-8191-01A-11D-2253-08	35675988	118588282	52526785	11	6793											
WNT2	7472	broad.mit.edu	37	chr7	116937826	116937826	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttcctccagagataatcGcccgttttcctgaagtcggc	8	12	8	13	3	0	2	0	1	0	1	5	3	3	2	4	1	1	1	4	1	3	5			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr7:116937826G>A	uc003viz.3	-	3	993	c.693C>T	c.(691-693)ggC>ggT	p.G231G	WNT2_uc003vja.3_Silent_p.G135G	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	231					Wnt receptor signaling pathway, calcium modulating pathway|atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	p.G231D(1)		breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		AGAGATAATCGCCCGTTTTCC	0.532													5	100					0	0	1	0	0	A	116937826	G	A	116937826	2	1	151	1	0	0	0	0	0	0	0	1	17383	1074	38	1		1	WNT2	7	116937826	Silent	SNP	G	TCGA-FG-8191-01A-11D-2253-08		116937826	42200837	12	6794											
EPHB6	2051	broad.mit.edu	37	chr7	142562152	142562152	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaactgaacgtcaaagaGcggagctttgggcctctcac	10	8	11	12	2	2	2	2	1	1	1	3	3	2	3	1	2	5	2	1	2	3	1			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr7:142562152G>A	uc011kst.2	+	6	1381	c.594G>A	c.(592-594)gaG>gaA	p.E198E	EPHB6_uc011ksu.2_Silent_p.E198E|EPHB6_uc003wbs.3_5'UTR|EPHB6_uc003wbt.3_Intron|EPHB6_uc003wbu.3_5'UTR|EPHB6_uc003wbv.3_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	198						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					ACGTCAAAGAGCGGAGCTTTG	0.657													11	254					0	0	1	0	0	A	142562152	G	A	142562152	2	1	151	1	0	0	0	0	0	0	0	1	5178	962	34	3		3	EPHB6	7	142562152	Silent	SNP	G	TCGA-FG-8191-01A-11D-2253-08	25624326	142562152	16576511	13	6795											
NKX3-1	4824	broad.mit.edu	37	chr8	23539038	23539038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccaactcgatcacctgaGtgtgggagaaggcagctcgg	9	8	13	11	2	2	2	1	1	1	1	5	4	2	2	2	3	2	2	2	3	2	0			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr8:23539038G>A	uc011kzx.2	-	1	449	c.401C>T	c.(400-402)aCt>aTt	p.T134I	NKX3-1_uc003xdv.1_Intron	NM_006167	NP_006158	Q99801	NKX31_HUMAN	Homo sapiens NK3 homeobox 1 (NKX3-1), transcript variant 1, mRNA.	134					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding	p.H133P(1)		large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		GATCACCTGAGTGTGGGAGAA	0.577													14	117					0	0	1	0	0	A	23539038	G	A	23539038	3	1	151	1	0	0	0	0	1	0	0	0	10455	1029	36	3	307	3	NKX3-1	8	23539038	Missense_Mutation	SNP	G	TCGA-FG-8191-01A-11D-2253-08		23539038	122824984	14	6796											
FAM189A2	9413	broad.mit.edu	37	chr9	72000864	72000864	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatccttctgaggagagagGtgatgtcattccccaagctc	9	10	10	12	0	2	3	1	2	1	1	5	5	4	4	4	2	1	1	4	2	1	2			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr9:72000864G>T	uc010mon.1	+	9	960	c.856_splice	c.e9+1	p.A286_splice	FAM189A2_uc004ahg.2_Splice_Site_p.A286_splice|FAM189A2_uc010moo.1_Splice_Site_p.D121_splice	NM_001127608	NP_004807	Q15884	F1892_HUMAN	Homo sapiens family with sequence similarity 189, member A2 (FAM189A2), transcript variant 2, mRNA.	286						integral to membrane				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GAGGAGAGAGGTGATGTCATT	0.577													15	35					2.23348e-06	2.4277e-06	1	1	0	T	72000864	G	T	72000864	5	4	151	1	0	0	0	0	0	0	1	0	5516	1275	44	5	887	5	FAM189A2	9	72000864	Splice_Site	SNP	G	TCGA-FG-8191-01A-11D-2253-08		72000864	69212567	15	6797											
MYO3A	53904	broad.mit.edu	37	chr10	26432481	26432481	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaatgggtttactttccctActtgatgaagaaagtagatt	12	14	8	7	0	0	4	0	2	0	2	1	4	1	4	2	1	2	2	2	1	6	7			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr10:26432481A>G	uc001isn.2	+	20	2727	c.2367A>G	c.(2365-2367)ctA>ctG	p.L789L	MYO3A_uc009xko.1_Silent_p.L789L|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	789	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.S788Y(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TACTTTCCCTACTTGATGAAG	0.403													21	30					0	0	1	0	0	G	26432481	A	G	26432481	2	3	151	1	0	0	0	0	0	0	0	1	10076	378	14	3		3	MYO3A	10	26432481	Silent	SNP	A	TCGA-FG-8191-01A-11D-2253-08		26432481	109102266	16	6798											
SPDYC	387778	broad.mit.edu	37	chr11	64939962	64939962	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaatgtgagatttttccAtgggccctgggaaaagattg	11	11	11	8	0	0	2	0	1	0	2	1	4	1	3	3	2	0	0	3	2	3	3			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr11:64939962A>G	uc010rnz.2	+	4	402	c.402A>G	c.(400-402)ccA>ccG	p.P134P		NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN	Homo sapiens speedy homolog C (Xenopus laevis) (SPDYC), mRNA.	134	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						AGATTTTTCCATGGGCCCTGG	0.562													44	87					0	0	1	0	0	G	64939962	A	G	64939962	2	3	151	1	0	0	0	0	0	0	0	1	15027	204	8	3		3	SPDYC	11	64939962	Silent	SNP	A	TCGA-FG-8191-01A-11D-2253-08		64939962	70066554	17	6799											
MTNR1B	4544	broad.mit.edu	37	chr11	92714797	92714797	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatatcactgccatcgccatTaaccgctactgctacatctg	11	11	5	14	2	2	0	1	0	1	0	3	0	2	0	3	0	5	2	3	0	5	4			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr11:92714797T>C	uc001pdk.1	+	1	511	c.408T>C	c.(406-408)atT>atC	p.I136I		NM_005959	NP_005950	P49286	MTR1B_HUMAN	Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	136					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CCATCGCCATTAACCGCTACT	0.607													6	54					0	0	1	0	0	C	92714797	T	C	92714797	2	2	151	1	0	0	0	0	0	0	0	1	9952	1742	61	3		3	MTNR1B	11	92714797	Silent	SNP	T	TCGA-FG-8191-01A-11D-2253-08	27774835	92714797	42291719	18	6800											
EML5	161436	broad.mit.edu	37	chr14	89093251	89093251	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgctcagtagcccttttttGctaagaagagctcttcctgc	7	14	9	11	0	2	2	1	0	1	2	3	2	3	2	2	0	5	4	2	0	3	6			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr14:89093251G>C	uc021ryf.1	-	33	4920	c.4671C>G	c.(4669-4671)agC>agG	p.S1557R	EML5_uc001xxf.3_Missense_Mutation_p.S344R|EML5_uc021ryg.1_Missense_Mutation_p.S1557R|EML5_uc001xxh.1_Missense_Mutation_p.S688R	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	1549						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCCCTTTTTTGCTAAGAAGAG	0.463													17	30					0	0	1	0	0	C	89093251	G	C	89093251	3	2	151	1	0	0	0	0	1	0	0	0	5100	1310	46	5	1302	5	EML5	14	89093251	Missense_Mutation	SNP	G	TCGA-FG-8191-01A-11D-2253-08		89093251	18256289	19	6801											
ARHGAP11A	9824	broad.mit.edu	37	chr15	32917835	32917835	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagaagacaaagtgtaggagGtaagtggcggtcccatttta	13	9	14	5	1	0	2	0	0	0	2	1	4	1	3	1	4	0	2	1	4	5	4			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr15:32917835G>C	uc001zgy.1	+	6	1584	c.862_splice	c.e6+1	p.D288_splice	ARHGAP11A_uc010ubw.1_Splice_Site_p.D99_splice|ARHGAP11A_uc001zgw.3_Splice_Site_p.D288_splice|ARHGAP11A_uc010ubx.1_Splice_Site_p.D99_splice	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN	Homo sapiens Rho GTPase activating protein 11A (ARHGAP11A), transcript variant 1, mRNA.	288					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		AGTGTAGGAGGTAAGTGGCGG	0.408													7	90					0	0	1	0	0	C	32917835	G	C	32917835	5	2	151	1	0	0	0	0	0	0	1	0	863	1275	44	5	885	5	ARHGAP11A	15	32917835	Splice_Site	SNP	G	TCGA-FG-8191-01A-11D-2253-08		32917835	69613557	20	6802											
SOLH	6650	broad.mit.edu	37	chr16	598068	598068	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggccgcccgcgtcctgccCgagcgcccgggccagtgggc	4	3	16	18	6	0	0	0	0	0	0	1	1	1	0	6	3	2	0	6	3	1	0			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr16:598068C>T	uc002chi.3	+	3	1593	c.1230C>T	c.(1228-1230)ccC>ccT	p.P410P	SOLH_uc002chh.1_Silent_p.P410P	NM_005632	NP_005623	O75808	CAN15_HUMAN	Homo sapiens small optic lobes homolog (Drosophila) (SOLH), mRNA.	410					proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Hepatocellular(780;0.00335)				GCGTCCTGCCCGAGCGCCCGG	0.751													8	12					0	0	1	0	0	T	598068	C	T	598068	2	4	151	1	0	0	0	0	0	0	0	1	14925	639	23	2		2	SOLH	16	598068	Silent	SNP	C	TCGA-FG-8191-01A-11D-2253-08		598068	89756685	21	6803											
SF3B3	23450	broad.mit.edu	37	chr16	70594469	70594469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgtcctgtgaagctcttccGagtccgaatgcaaggccagg	8	8	12	13	3	1	1	0	1	1	0	4	3	4	1	5	2	2	2	5	2	3	1			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr16:70594469G>A	uc002ezf.3	+	15	2319	c.2108G>A	c.(2107-2109)cGa>cAa	p.R703Q		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.	703					protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AAGCTCTTCCGAGTCCGAATG	0.522													4	73					0	0	1	0	0	A	70594469	G	A	70594469	3	1	151	1	0	0	0	0	1	0	0	0	14152	1058	37	2	2166	2	SF3B3	16	70594469	Missense_Mutation	SNP	G	TCGA-FG-8191-01A-11D-2253-08	69996401	70594469	19760284	22	6804											
TP53	7157	broad.mit.edu	37	chr17	7579350	7579350	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctgtcccagaatgcaagaAgcccagacggaaaccgtagc	13	4	12	12	2	0	3	0	0	0	3	1	4	1	4	3	2	4	3	3	2	5	1			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr17:7579350A>C	uc002gim.2	-	3	531	c.337T>G	c.(337-339)Ttc>Gtc	p.F113V	TP53_uc002gig.1_Missense_Mutation_p.F113V|TP53_uc002gih.3_Missense_Mutation_p.F113V|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Missense_Mutation_p.F113V|TP53_uc010cnh.1_Missense_Mutation_p.F113V|TP53_uc002gij.2_Missense_Mutation_p.F113V|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Missense_Mutation_p.F74V|TP53_uc010cnk.1_Missense_Mutation_p.F128V	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	113	Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		F -> C (in sporadic cancers; somatic mutation).|F -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|F -> I (in a sporadic cancer; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.F113V(12)|p.F113C(9)|p.0?(8)|p.F113S(4)|p.F113L(3)|p.G59fs*23(3)|p.G105_T125del21(2)|p.G112_V122delGFLHSGTAKSV(2)|p.G112fs*9(2)|p.F113del(2)|p.G112_S116delGFLHS(2)|p.V73fs*9(1)|p.Y107fs*44(1)|p.G112G(1)|p.G112D(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.G112fs*36(1)|p.Y103_G112>C(1)|p.G112S(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)		GAATGCAAGAAGCCCAGACGG	0.607		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)			55	26					0	0	1	0	0	C	7579350	A	C	7579350	3	2	151	1	0	0	0	0	1	0	0	0	16378	72	3	5	965	5	TP53	17	7579350	Missense_Mutation	SNP	A	TCGA-FG-8191-01A-11D-2253-08		7579350	73615860	23	6805											
MYH10	4628	broad.mit.edu	37	chr17	8397110	8397110	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cctggcctcctcctcctcctCctgctgctcctgaagactgt	3	12	7	19	0	0	2	0	1	0	1	6	2	6	2	8	1	2	2	8	1	1	0			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr17:8397110C>G	uc002glm.3	-	31	4246	c.4150G>C	c.(4150-4152)Gag>Cag	p.E1384Q	MYH10_uc002gll.3_Missense_Mutation_p.E1353Q|MYH10_uc010cnx.3_Missense_Mutation_p.E1362Q	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	1353					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCCTCCTCCTCCTGCTGCTCC	0.587													3	44					0	0	1	0	0	G	8397110	C	G	8397110	3	3	151	1	0	0	0	0	1	0	0	0	10030	864	30	5	1921	5	MYH10	17	8397110	Missense_Mutation	SNP	C	TCGA-FG-8191-01A-11D-2253-08	817760	8397110	72798100	24	6806											
MFAP4	4239	broad.mit.edu	37	chr17	19290401	19290401	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catagtgccctctgtggccaGgggcctctggagtgggctca	5	9	15	12	0	3	0	1	0	2	0	3	1	3	1	3	5	1	1	3	5	1	1			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr17:19290401G>A	uc002gvs.3	-	0	132	c.31C>T	c.(31-33)Ctg>Ttg	p.L11L	MFAP4_uc002gvt.3_Intron	NM_001198695	NP_001185624	P55083	MFAP4_HUMAN	Homo sapiens microfibrillar-associated protein 4 (MFAP4), transcript variant 1, mRNA.	0					cell adhesion|signal transduction	microfibril	receptor binding			large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					TCTGTGGCCAGGGGCCTCTGG	0.597													13	17					0	0	1	0	0	A	19290401	G	A	19290401	2	1	151	1	0	0	0	0	0	0	0	1	9517	1015	35	3		3	MFAP4	17	19290401	Silent	SNP	G	TCGA-FG-8191-01A-11D-2253-08	10893291	19290401	61904809	25	6807											
GPATCH8	23131	broad.mit.edu	37	chr17	42483311	42483311	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcagcttgttttctttgctCtgccaactcatggagccgcc	5	15	8	13	1	4	0	2	0	2	0	4	1	4	1	3	1	5	3	3	1	1	5			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr17:42483311C>G	uc002igw.2	-	6	820	c.601G>C	c.(601-603)Gag>Cag	p.E201Q	GPATCH8_uc002igv.2_Missense_Mutation_p.E123Q|GPATCH8_uc010wiz.2_Missense_Mutation_p.E123Q	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	201						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TTTCTTTGCTCTGCCAACTCA	0.368													10	63					0	0	1	0	0	G	42483311	C	G	42483311	3	3	151	1	0	0	0	0	1	0	0	0	6594	922	32	5	3915	5	GPATCH8	17	42483311	Missense_Mutation	SNP	C	TCGA-FG-8191-01A-11D-2253-08	23192910	42483311	38711899	26	6808											
PRKCA	5578	broad.mit.edu	37	chr17	64738870	64738870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggactccagattatatcGccccagaggtaggaacccca	11	7	11	12	1	0	2	0	0	0	2	2	4	1	4	5	3	1	1	5	3	4	3			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr17:64738870G>A	uc002jfo.1	+	13	1621	c.1129G>A	c.(1129-1131)Gcc>Acc	p.A377T	PRKCA_uc002jfp.1_Missense_Mutation_p.A506T			P17252	KPCA_HUMAN	Homo sapiens protein kinase C, alpha (PRKCA), mRNA.	506	Protein kinase.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	AGATTATATCGCCCCAGAGGT	0.488													9	18					0	0	1	0	0	A	64738870	G	A	64738870	3	1	151	1	0	0	0	0	1	0	0	0	12507	1087	38	1	1566	1	PRKCA	17	64738870	Missense_Mutation	SNP	G	TCGA-FG-8191-01A-11D-2253-08	22255559	64738870	16456340	27	6809											
EXOC7	23265	broad.mit.edu	37	chr17	74084888	74084888	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcaggcttggtctgcttGaggtgtcgcaggatggggaa	8	10	16	7	1	2	1	1	1	1	0	3	3	2	3	0	6	2	3	0	6	2	2			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr17:74084888G>T	uc002jqs.3	-	9	1412	c.1317C>A	c.(1315-1317)ctC>ctA	p.L439L	EXOC7_uc010dgv.2_Silent_p.L335L|EXOC7_uc010wsv.2_Silent_p.L347L|EXOC7_uc010wsw.2_Silent_p.L411L|EXOC7_uc002jqq.3_Silent_p.L388L|EXOC7_uc010wsx.2_Silent_p.L380L|EXOC7_uc002jqr.3_Silent_p.L357L	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA.	439					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TGGTCTGCTTGAGGTGTCGCA	0.612													4	115					1	1	1	1	0	T	74084888	G	T	74084888	2	4	151	1	0	0	0	0	0	0	0	1	5310	1277	45	5		5	EXOC7	17	74084888	Silent	SNP	G	TCGA-FG-8191-01A-11D-2253-08	9346018	74084888	7110322	28	6810											
KLHL14	57565	broad.mit.edu	37	chr18	30322013	30322013	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttgttagagcgaattCttcacccaaaacaaaagagg	14	12	7	8	1	3	2	1	0	2	2	3	3	3	2	1	1	2	1	1	1	6	6			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr18:30322013C>A	uc002kxm.1	-	3	1336	c.948_splice	c.e3-1	p.R316_splice		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	316						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						AGAGCGAATTCTTCACCCAAA	0.433													9	58					0.000978159	0.00101892	1	1	0	A	30322013	C	A	30322013	5	1	151	1	0	0	0	0	0	0	1	0	8370	927	32	5	967	5	KLHL14	18	30322013	Splice_Site	SNP	C	TCGA-FG-8191-01A-11D-2253-08		30322013	47755235	29	6811											
PSG3	5671	broad.mit.edu	37	chr19	43382350	43382350	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaagtagaagaacatcctTcccctcggaaactttggttg	12	10	9	10	1	0	2	0	0	0	2	3	4	2	3	3	2	2	2	3	2	5	4			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr19:43382350T>C	uc002ovd.1	-	1	283	c.145A>G	c.(145-147)Aag>Gag	p.K49E	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Missense_Mutation_p.K49E|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Missense_Mutation_p.K49E|PSG3_uc002ova.2_Missense_Mutation_p.K49E|PSG3_uc002ouz.2_Missense_Mutation_p.K49E|PSG3_uc002ovb.3_Missense_Mutation_p.K49E	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	49	Ig-like V-type.				defense response|female pregnancy	extracellular region		p.G48W(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				AGAACATCCTTCCCCTCGGAA	0.473													35	264					0	0	1	0	0	C	43382350	T	C	43382350	3	2	151	1	0	0	0	0	1	0	0	0	12656	1792	62	3		3	PSG3	19	43382350	Missense_Mutation	SNP	T	TCGA-FG-8191-01A-11D-2253-08		43382350	15746633	30	6812											
ZNF761	388561	broad.mit.edu	37	chr19	53958931	53958931	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaatgagtgtggcaagacCtttagtcacaagtcatccct	11	12	9	9	0	2	2	2	1	0	1	3	2	3	2	2	1	0	2	2	1	4	3			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr19:53958931C>G	uc010eqp.3	+	6	1628	c.1170C>G	c.(1168-1170)acC>acG	p.T390T	ZNF761_uc010ydy.2_Silent_p.T336T|ZNF761_uc002qbt.2_Silent_p.T336T	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	Homo sapiens zinc finger protein 761 (ZNF761), mRNA.	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GTGGCAAGACCTTTAGTCACA	0.408													12	140					0	0	1	0	0	G	53958931	C	G	53958931	2	3	151	1	0	0	0	0	0	0	0	1	18133	668	24	5		5	ZNF761	19	53958931	Silent	SNP	C	TCGA-FG-8191-01A-11D-2253-08	10576581	53958931	5170052	31	6813											
CHGB	1114	broad.mit.edu	37	chr20	5902992	5902992	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattataggtagaaaagacGtcaaagacaaagagacaact	20	7	8	6	1	2	4	2	0	0	4	2	5	2	4	0	1	1	1	0	1	8	3			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr20:5902992G>A	uc002wmg.3	+	3	508	c.202G>A	c.(202-204)Gtc>Atc	p.V68I	CHGB_uc010zqz.2_Intron	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	68						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						TAGAAAAGACGTCAAAGACAA	0.408													4	30					0	0	1	0	0	A	5902992	G	A	5902992	3	1	151	1	0	0	0	0	1	0	0	0	3339	1145	40	1	216	1	CHGB	20	5902992	Missense_Mutation	SNP	G	TCGA-FG-8191-01A-11D-2253-08		5902992	57122528	32	6814											
CDK16	5127	broad.mit.edu	37	chrX	47082981	47082981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcggatgaagaagatcaaaCggcagctgtcaatgacactc	15	7	10	9	2	2	4	2	2	0	2	4	5	2	5	0	2	2	2	0	2	4	0			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chrX:47082981C>T	uc011mli.2	+	1	567	c.43C>T	c.(43-45)Cgg>Tgg	p.R15W	CDK16_uc011mlj.2_Missense_Mutation_p.R9W|CDK16_uc004dho.3_Missense_Mutation_p.R9W|CDK16_uc011mlk.2_Missense_Mutation_p.R9W|CDK16_uc011mll.2_Missense_Mutation_p.R83W	NM_033018	NP_006192	Q00536	CDK16_HUMAN	Homo sapiens cyclin-dependent kinase 16 (CDK16), transcript variant 2, mRNA.	9							ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						GAAGATCAAACGGCAGCTGTC	0.532													3	24					0	0	1	0	0	T	47082981	C	T	47082981	3	4	151	1	0	0	0	0	1	0	0	0	3132	527	19	1	269	1	CDK16	23	47082981	Missense_Mutation	SNP	C	TCGA-FG-8191-01A-11D-2253-08		47082981	108187579	33	6815											
ATRX	546	broad.mit.edu	37	chrX	76909629	76909629	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgaaccttaatacgtcGccttttctttttctgtttat	6	22	4	9	2	3	1	0	1	3	0	4	1	3	1	2	0	2	1	2	0	4	10			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chrX:76909629G>A	uc004ecp.4	-	13	4508	c.4276C>T	c.(4276-4278)Cga>Tga	p.R1426*	ATRX_uc004ecq.4_Nonsense_Mutation_p.R1388*|ATRX_uc004eco.4_Nonsense_Mutation_p.R1211*|ATRX_uc004ecr.2_Nonsense_Mutation_p.R1358*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1426					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.R1426*(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTAATACGTCGCCTTTTCTTT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						33	12					0	0	1	0	0	A	76909629	G	A	76909629	4	1	151	1	0	0	0	0	0	1	0	0	1208	1095	38	1	3290	1	ATRX	23	76909629	Nonsense_Mutation	SNP	G	TCGA-FG-8191-01A-11D-2253-08	29826648	76909629	78360931	34	6816											
LDLRAP1	26119	broad.mit.edu	37	chr1	25881422	25881422	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggaattatcctgacagaCaacctcaccaaccagctcat	13	7	7	14	1	2	2	2	1	0	1	3	3	3	3	4	2	3	1	4	2	4	1			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr1:25881422C>A	uc001bkl.4	+	2	417	c.303C>A	c.(301-303)gaC>gaA	p.D101E		NM_015627	NP_056442	Q5SW96	ARH_HUMAN	Homo sapiens low density lipoprotein receptor adaptor protein 1 (LDLRAP1), mRNA.	101	PID.				amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTGACAGACAACCTCACCA	0.557													3	24					0.00024832	0.000257871	1	1	0	A	25881422	C	A	25881422	3	1	152	1	0	0	0	0	1	0	0	0	8708	477	17	5	313	5	LDLRAP1	1	25881422	Missense_Mutation	SNP	C	TCGA-FG-A4MT-01A-11D-A26M-08		25881422	223369199	1	6817											
OR6F1	343169	broad.mit.edu	37	chr1	247875306	247875306	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaactgtggacccatacCaaatgagcaccacggtgaga	15	5	11	10	1	0	2	0	2	0	1	0	5	0	4	3	3	3	1	3	3	4	1			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr1:247875306C>T	uc001idj.1	-	0	752	c.752G>A	c.(751-753)tGg>tAg	p.W251*		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGACCCATACCAAATGAGCAC	0.532													43	45					0	0	1	0	0	T	247875306	C	T	247875306	4	4	152	1	0	0	0	0	0	1	0	0	11201	595	21	3	178	3	OR6F1	1	247875306	Nonsense_Mutation	SNP	C	TCGA-FG-A4MT-01A-11D-A26M-08	221993884	247875306	1375315	2	6818											
TTN	7273	broad.mit.edu	37	chr2	179481731	179481731	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaatgcacttaaatccattGttggttcaactacaaagaag	16	12	6	7	0	1	1	1	0	0	1	2	1	2	1	1	1	3	3	1	1	8	6			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr2:179481731G>A	uc021vsy.1	-	204	40406	c.40181C>T	c.(40180-40182)aCa>aTa	p.T13394I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T7089I|TTN_uc021vta.1_Missense_Mutation_p.T7022I|TTN_uc021vtb.1_Missense_Mutation_p.T6897I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14321	Ig-like 90.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAATCCATTGTTGGTTCAAC	0.408													37	53					0	0	1	0	0	A	179481731	G	A	179481731	3	1	152	1	0	0	0	0	1	0	0	0	16732	1377	48	3	60236	3	TTN	2	179481731	Missense_Mutation	SNP	G	TCGA-FG-A4MT-01A-11D-A26M-08		179481731	63717642	3	6819											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								21	20					0	0	1	0	0	T	209113112	C	T	209113112	3	4	152	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A4MT-01A-11D-A26M-08	29631381	209113112	34086261	4	6820											
PTPRN	5798	broad.mit.edu	37	chr2	220173962	220173963	+	Frame_Shift_Ins	INS	-	-	C																															gggcactaacggcgctgcagINSccccccgggcggctgctcag																										TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr2:220173962_220173963insC	uc002vkz.3	-	0	333_334	c.92_93insG	c.(91-93)ggcfs	p.G31fs	PTPRN_uc010zlc.2_5'Flank|PTPRN_uc002vla.3_Frame_Shift_Ins_p.G31fs	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	31					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CGGCGCTGCAGCCCCCCGGGCG	0.738													2	4	---	---	---	---						C	220173963	-	C	220173962	7	5	152	1	0	1	1	0	0	0	0	0	12807	958	34	0	2938	0	PTPRN	2	220173962	Frame_Shift_Ins	INS	-	TCGA-FG-A4MT-01A-11D-A26M-08	11060850	220173962	23025411	5	6821											
INPP4B	8821	broad.mit.edu	37	chr4	143191848	143191848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacatctgtggtgatgtggtCggcttccccatcctcaatct	6	14	9	12	1	3	1	1	1	2	0	6	1	5	1	3	3	1	1	3	3	2	2			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr4:143191848C>T	uc003iix.4	-	10	1178	c.583G>A	c.(583-585)Gac>Aac	p.D195N	INPP4B_uc003iiw.4_Missense_Mutation_p.D195N|INPP4B_uc011chm.2_Non-coding_Transcript|INPP4B_uc011chn.1_Missense_Mutation_p.D10N|INPP4B_uc011cho.1_Non-coding_Transcript|INPP4B_uc011chp.1_Missense_Mutation_p.D66N	NM_003866	NP_003857	O15327	INP4B_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type II, 105kDa (INPP4B), transcript variant 1, mRNA.	195					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GTGATGTGGTCGGCTTCCCCA	0.443													26	35					0	0	1	0	0	T	143191848	C	T	143191848	3	4	152	1	0	0	0	0	1	0	0	0	7753	884	31	2	2259	2	INPP4B	4	143191848	Missense_Mutation	SNP	C	TCGA-FG-A4MT-01A-11D-A26M-08		143191848	47962428	6	6822											
DSP	1832	broad.mit.edu	37	chr6	7580531	7580531	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcagtttgagaccgagAtcaacatcaccaagaccacc	17	6	6	12	1	3	3	3	1	0	3	3	5	3	3	4	0	1	1	4	0	4	1			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr6:7580531A>T	uc003mxp.1	+	22	4387	c.4108A>T	c.(4108-4110)Atc>Ttc	p.I1370F	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1370	Central fibrous rod domain.				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)		TGAGACCGAGATCAACATCAC	0.463													40	56					0	0	1	0	0	T	7580531	A	T	7580531	3	4	152	1	0	0	0	0	1	0	0	0	4781	333	12	5	4198	5	DSP	6	7580531	Missense_Mutation	SNP	A	TCGA-FG-A4MT-01A-11D-A26M-08		7580531	163534536	7	6823											
UBD	10537	broad.mit.edu	37	chr6	29523936	29523936	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actttcagggtaaggtggatGgtcttctctttgtcaatgcc	7	15	11	8	0	4	0	2	0	2	0	5	1	4	1	1	4	1	1	1	4	2	4			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr6:29523936G>T	uc003nmo.3	-	1	443	c.219C>A	c.(217-219)acC>acA	p.T73T	GABBR1_uc003nmp.4_3'UTR	NM_006398	NP_006389	O15205	UBD_HUMAN	Homo sapiens ubiquitin D (UBD), mRNA.	73	Ubiquitin 1.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of apoptosis|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						TAAGGTGGATGGTCTTCTCTT	0.522													4	44					0.00909568	0.00909568	1	1	0	T	29523936	G	T	29523936	2	4	152	1	0	0	0	0	0	0	0	1	16840	1335	47	5		5	UBD	6	29523936	Silent	SNP	G	TCGA-FG-A4MT-01A-11D-A26M-08	21943405	29523936	141591131	8	6824											
TRRAP	8295	broad.mit.edu	37	chr7	98508848	98508848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaagaaatcttccaaactaCggtcccttatatggtggaga	14	10	8	9	1	1	2	0	0	1	2	3	3	3	2	2	3	2	0	2	3	6	4			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr7:98508848C>T	uc003upp.3	+	16	2170	c.1961C>T	c.(1960-1962)aCg>aTg	p.T654M	TRRAP_uc011kis.2_Missense_Mutation_p.T654M|TRRAP_uc003upr.3_Missense_Mutation_p.T346M	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	654					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTCCAAACTACGGTCCCTTAT	0.368													7	22					0	0	1	0	0	T	98508848	C	T	98508848	3	4	152	1	0	0	0	0	1	0	0	0	16598	536	19	1	2023	1	TRRAP	7	98508848	Missense_Mutation	SNP	C	TCGA-FG-A4MT-01A-11D-A26M-08		98508848	60629815	9	6825											
ZNF503	84858	broad.mit.edu	37	chr10	77159074	77159074	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggacttcagcgccgcagcCgcagcagccggatcatgtgc	7	5	13	16	5	2	0	2	0	0	0	2	2	2	2	4	2	5	3	4	2	0	1			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr10:77159074C>T	uc001jxg.3	-	1	1710	c.1374G>A	c.(1372-1374)gcG>gcA	p.A458A	ZNF503-AS2_uc010qlf.2_5'Flank	NM_032772	NP_116161	Q96F45	ZN503_HUMAN	Homo sapiens zinc finger protein 503 (ZNF503), mRNA.	458	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GCGCCGCAGCCGCAGCAGCCG	0.701													9	8					0	0	1	0	0	T	77159074	C	T	77159074	2	4	152	1	0	0	0	0	0	0	0	1	17948	639	23	2		2	ZNF503	10	77159074	Silent	SNP	C	TCGA-FG-A4MT-01A-11D-A26M-08		77159074	58375673	10	6826											
PPRC1	23082	broad.mit.edu	37	chr10	103899573	103899573	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagggaggtcgtggagccGgtggtgcccaaggagcctca	7	5	17	12	2	1	0	1	0	0	0	2	3	1	3	4	6	3	0	4	6	1	0			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr10:103899573G>A	uc001kum.3	+	4	1347	c.1308G>A	c.(1306-1308)ccG>ccA	p.P436P	PPRC1_uc001kun.3_Silent_p.P316P|PPRC1_uc010qqj.2_Silent_p.P436P|PPRC1_uc009xxa.3_Non-coding_Transcript	NM_015062	NP_055877	Q5VV67	PPRC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator-related 1 (PPRC1), mRNA.	436	Necessary for interaction with CREB1 and NRF1 and for transcriptional coactivation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TCGTGGAGCCGGTGGTGCCCA	0.577													11	69					0	0	1	0	0	A	103899573	G	A	103899573	2	1	152	1	0	0	0	0	0	0	0	1	12410	1103	39	2		2	PPRC1	10	103899573	Silent	SNP	G	TCGA-FG-A4MT-01A-11D-A26M-08	26740499	103899573	31635174	11	6827											
DUSP5	1847	broad.mit.edu	37	chr10	112269864	112269864	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatctgcatggcttaccttAtgaagaccaagcagttccgc	10	10	8	13	1	1	2	0	1	1	1	2	2	2	2	4	1	3	4	4	1	4	3			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr10:112269864A>G	uc001kzd.3	+	3	1090	c.835A>G	c.(835-837)Atg>Gtg	p.M279V		NM_004419	NP_004410	Q16690	DUS5_HUMAN	Homo sapiens dual specificity phosphatase 5 (DUSP5), mRNA.	279	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		GGCTTACCTTATGAAGACCAA	0.552													29	41					0	0	1	0	0	G	112269864	A	G	112269864	3	3	152	1	0	0	0	0	1	0	0	0	4828	449	16	3	849	3	DUSP5	10	112269864	Missense_Mutation	SNP	A	TCGA-FG-A4MT-01A-11D-A26M-08	8370291	112269864	23264883	12	6828											
PACS1	55690	broad.mit.edu	37	chr11	65838059	65838061	+	In_Frame_Del	DEL	GCA	GCA	-																															tcccctcagcagccgccgccGcagcagcagcagcagcagcc																								rs75352646		TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr11:65838059_65838061delGCA	uc001oha.2	+	0	236_238	c.102_104delGCA	c.(100-105)ccgcag>ccg	p.Q40del	PACS1_uc001ogz.1_In_Frame_Del_p.Q40del	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.	40	Gly-rich.|Poly-Gln.				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						agccgccgccgcagcagcagcag	0.793													2	4	---	---	---	---						-	65838061	GCA	-	65838059	7	5	152	1	0	1	0	1	0	0	0	0	11372	1074	38	0	104	0	PACS1	11	65838059	In_Frame_Del	DEL	GCA	TCGA-FG-A4MT-01A-11D-A26M-08		65838059	69168457	13	6829											
ADRBK1	156	broad.mit.edu	37	chr11	67050273	67050273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacaagcatgagatcgaccGcatgacgctgacgatggtgg	12	6	14	9	4	0	4	0	3	0	2	1	7	0	4	1	2	1	3	1	2	1	0			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr11:67050273G>A	uc009yrn.1	+	13	1477	c.1211G>A	c.(1210-1212)cGc>cAc	p.R404H		NM_001619	NP_001610	P25098	ARBK1_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 1 (ADRBK1), mRNA.	404	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	ATP binding|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|alpha-2A adrenergic receptor binding|beta-adrenergic receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GAGATCGACCGCATGACGCTG	0.602													3	26					0	0	1	0	0	A	67050273	G	A	67050273	3	1	152	1	0	0	0	0	1	0	0	0	343	1087	38	1	1265	1	ADRBK1	11	67050273	Missense_Mutation	SNP	G	TCGA-FG-A4MT-01A-11D-A26M-08	1212214	67050273	67956243	14	6830											
MLL2	8085	broad.mit.edu	37	chr12	49418711	49418711	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatggcagccacaggctcaAtgatgcgattccacacggct	10	8	10	13	2	2	1	2	1	0	0	3	2	3	1	2	3	2	3	2	3	1	1			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr12:49418711A>G	uc001rta.4	-	48	15803	c.15803T>C	c.(15802-15804)aTt>aCt	p.I5268T		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	5268	FYR C-terminal.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CACAGGCTCAATGATGCGATT	0.557			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			6	5					0	0	1	0	0	G	49418711	A	G	49418711	3	3	152	1	0	0	0	0	1	0	0	0	9621	101	4	3	834	3	MLL2	12	49418711	Missense_Mutation	SNP	A	TCGA-FG-A4MT-01A-11D-A26M-08		49418711	84433184	15	6831											
TP53	7157	broad.mit.edu	37	chr17	7578403	7578403	+	Missense_Mutation	SNP	C	C	A																															agcagcgctcatggtgggggCagcgcctcacaacctccgtc																										TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr17:7578403C>A	uc002gim.2	-	4	721	c.527G>T	c.(526-528)tGc>tTc	p.C176F	TP53_uc002gig.1_Missense_Mutation_p.C176F|TP53_uc002gih.3_Missense_Mutation_p.C176F|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C44F|TP53_uc010cnf.1_Missense_Mutation_p.C44F|TP53_uc002gii.1_Missense_Mutation_p.C44F|TP53_uc010cni.1_Missense_Mutation_p.C176F|TP53_uc010cnh.1_Missense_Mutation_p.C176F|TP53_uc002gij.2_Missense_Mutation_p.C176F|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C83F|TP53_uc002gio.2_Missense_Mutation_p.C44F|TP53_uc010vug.2_Missense_Mutation_p.C137F	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	176	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(807)|p.C176F(241)|p.C176Y(122)|p.C176S(27)|p.R175L(19)|p.R175G(15)|p.R175C(15)|p.C176R(12)|p.C176W(11)|p.C83F(9)|p.C44F(9)|p.0?(8)|p.C176*(8)|p.C176fs*71(7)|p.R175P(6)|p.C176_R181delCPHHER(6)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.C176G(4)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.C176fs*5(3)|p.V157_C176del20(2)|p.C176fs*65(2)|p.C176_P177delCP(2)|p.C176fs*68(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R175fs*5(2)|p.R174_C176delRRC(2)|p.V173fs*59(2)|p.C176del(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.C176fs*72(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.R81fs*24(1)|p.C176fs*6(1)|p.H178fs*3(1)|p.R174fs*3(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)		ATGGTGGGGGCAGCGCCTCAC	0.652		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)			25	37					2.79863e-10	3.14846e-10	1	1	0	A	7578403	C	A	7578403	3	1	152	1	0	0	0	0	1	0	0	0	16378	710	25	5	771	5	TP53	17	7578403	Missense_Mutation	SNP	C	TCGA-FG-A4MT-01A-11D-A26M-08		7578403	73616807	16	6832	25	2									
TP53	7157	broad.mit.edu	37	chr17	7578412	7578412	+	Missense_Mutation	SNP	A	A	G																															catggtgggggcagcgcctcAcaacctccgtcatgtgctgt																										TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr17:7578412A>G	uc002gim.2	-	4	712	c.518T>C	c.(517-519)gTg>gCg	p.V173A	TP53_uc002gig.1_Missense_Mutation_p.V173A|TP53_uc002gih.3_Missense_Mutation_p.V173A|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.V41A|TP53_uc010cnf.1_Missense_Mutation_p.V41A|TP53_uc002gii.1_Missense_Mutation_p.V41A|TP53_uc010cni.1_Missense_Mutation_p.V173A|TP53_uc010cnh.1_Missense_Mutation_p.V173A|TP53_uc002gij.2_Missense_Mutation_p.V173A|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.V80A|TP53_uc002gio.2_Missense_Mutation_p.V41A|TP53_uc010vug.2_Missense_Mutation_p.V134A	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	173	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V173L(57)|p.V173M(42)|p.V173A(24)|p.V172F(13)|p.V173G(12)|p.V173V(8)|p.V172D(8)|p.0?(8)|p.V172I(7)|p.V172A(4)|p.V173fs*1(4)|p.V173fs*7(4)|p.V173fs*59(4)|p.V172fs*2(4)|p.V172V(4)|p.V172G(4)|p.V157_C176del20(2)|p.V172_R174delVVR(2)|p.V173fs*69(2)|p.P151_V173del23(2)|p.V173fs*23(2)|p.V172_E180delVVRRCPHHE(2)|p.V173E(2)|p.V173W(2)|p.E171_H179delEVVRRCPHH(2)|p.K164_P219del(1)|p.E171fs*61(1)|p.V41fs*7(1)|p.E171fs*1(1)|p.V173fs*8(1)|p.V172fs*9(1)|p.H168fs*69(1)|p.S149fs*72(1)|p.V80fs*7(1)|p.E171_V172delEV(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)		GCAGCGCCTCACAACCTCCGT	0.662		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)			30	31					0	0	1	0	0	G	7578412	A	G	7578412	3	3	152	1	0	0	0	0	1	0	0	0	16378	159	6	3	780	3	TP53	17	7578412	Missense_Mutation	SNP	A	TCGA-FG-A4MT-01A-11D-A26M-08	9	7578412	73616798	17	6833	25	2									
LAMA3	3909	broad.mit.edu	37	chr18	21426422	21426422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagcccaacgtcatcgggcGgcagtgcacccgctgtgcaa	8	5	12	16	4	1	0	1	0	0	0	2	0	1	0	3	2	4	4	3	2	2	0			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr18:21426422G>A	uc002kuq.3	+	30	3967	c.3881G>A	c.(3880-3882)cGg>cAg	p.R1294Q	LAMA3_uc002kur.3_Missense_Mutation_p.R1294Q	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1294	Domain III B.|Laminin EGF-like 9.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCATCGGGCGGCAGTGCACC	0.652													14	26					0	0	1	0	0	A	21426422	G	A	21426422	3	1	152	1	0	0	0	0	1	0	0	0	8607	1116	39	2	4003	2	LAMA3	18	21426422	Missense_Mutation	SNP	G	TCGA-FG-A4MT-01A-11D-A26M-08		21426422	56650826	18	6834											
MUC16	94025	broad.mit.edu	37	chr19	9084692	9084692	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaagctatggaggtgtTgatcagatcagaagaagaac	16	8	13	4	0	2	7	2	2	0	5	2	8	2	8	0	2	2	2	0	2	6	2			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr19:9084692T>C	uc002mkp.3	-	0	7327	c.7123A>G	c.(7123-7125)Aac>Gac	p.N2375D		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2375	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATGGAGGTGTTGATCAGATCA	0.438													8	25					0	0	1	0	0	C	9084692	T	C	9084692	3	2	152	1	0	0	0	0	1	0	0	0	9973	1812	63	3	36736	3	MUC16	19	9084692	Missense_Mutation	SNP	T	TCGA-FG-A4MT-01A-11D-A26M-08		9084692	50044291	19	6835											
MPPED1	758	broad.mit.edu	37	chr22	43870673	43870673	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccacgagctgacctttgAccaggagttcatggccgacc	10	7	10	14	2	1	2	1	2	0	0	1	5	1	3	5	2	2	2	5	2	1	2			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr22:43870673A>G	uc011apz.2	+	3	904	c.563A>G	c.(562-564)gAc>gGc	p.D188G	MPPED1_uc011apv.2_Missense_Mutation_p.D155G|MPPED1_uc011apw.2_Missense_Mutation_p.D49G|MPPED1_uc011apx.2_5'UTR|MPPED1_uc011apy.2_Missense_Mutation_p.D155G	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN	Homo sapiens metallophosphoesterase domain containing 1 (MPPED1), mRNA.	155							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CTGACCTTTGACCAGGAGTTC	0.552													45	86					0	0	1	0	0	G	43870673	A	G	43870673	3	3	152	1	0	0	0	0	1	0	0	0	9741	275	10	3	474	3	MPPED1	22	43870673	Missense_Mutation	SNP	A	TCGA-FG-A4MT-01A-11D-A26M-08		43870673	7433893	20	6836											
ATRX	546	broad.mit.edu	37	chrX	76855014	76855017	+	Frame_Shift_Del	DEL	CTAT	CTAT	-																															tgccacttccacttgagctaCtatcttttttcccctttttc																										TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chrX:76855014_76855017delCTAT	uc004ecp.4	-	24	6051_6054	c.5819_5822delATAG	c.(5818-5823)gatagtfs	p.D1940fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.D1902fs|ATRX_uc004eco.4_Frame_Shift_Del_p.D1725fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1940					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.D1940fs*14(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ACTTGAGCTACTATCTTTTTTCCC	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						123	244	---	---	---	---						-	76855017	CTAT	-	76855014	7	5	152	1	0	1	0	1	0	0	0	0	1208	565	20	0	1700	0	ATRX	23	76855014	Frame_Shift_Del	DEL	CTAT	TCGA-FG-A4MT-01A-11D-A26M-08		76855014	78415546	21	6837											
SPANXE	171489	broad.mit.edu	37	chrX	140785682	140785682	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcctcctccatttggaggggGttgattctgttctttcgggc	3	16	12	10	1	2	1	0	1	2	0	6	2	5	2	3	4	0	2	3	4	0	5			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chrX:140785682G>T	uc004fbq.3	-	1	327	c.234C>A	c.(232-234)aaC>aaA	p.N78K		NM_145665	NP_663698	Q8TAD1	SPNXE_HUMAN	Homo sapiens SPANX family, member E (SPANXE), mRNA.	78						cytoplasm|nucleus						Acute lymphoblastic leukemia(192;7.65e-05)					TTTGGAGGGGGTTGATTCTGT	0.448													10	166					3.07112e-06	3.31681e-06	1	1	0	T	140785682	G	T	140785682	3	4	152	1	0	0	0	0	1	0	0	0	14989	1252	44	5	63	5	SPANXE	23	140785682	Missense_Mutation	SNP	G	TCGA-FG-A4MT-01A-11D-A26M-08	63930668	140785682	14484878	22	6838											
SPAG17	200162	broad.mit.edu	37	chr1	118516183	118516183	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgggctcataagattctgcTtctgttagagagaaagctta	12	12	10	7	1	3	3	1	0	2	3	3	4	3	3	0	1	2	4	0	1	4	5			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr1:118516183T>C	uc001ehk.2	-	44	6073	c.6005_splice	c.e44-1	p.E2002_splice	SPAG17_uc021osr.1_Splice_Site_p.E512_splice	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	2002						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AAGATTCTGCTTCTGTTAGAG	0.378													43	43					0	0	1	0	0	C	118516183	T	C	118516183	5	2	153	1	0	0	0	0	0	0	1	0	14979	1623	56	4	685	4	SPAG17	1	118516183	Splice_Site	SNP	T	TCGA-FG-A4MU-01B-11D-A289-08		118516183	130734438	1	6839											
RUSC1	23623	broad.mit.edu	37	chr1	155296536	155296536	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgcccctgggcccacCtcaggcccctgcccctccag	4	5	8	24	0	1	0	1	0	0	0	2	0	2	0	11	2	2	0	11	2	0	0			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr1:155296536C>T	uc001fkj.2	+	7	2256	c.2027C>T	c.(2026-2028)cCt>cTt	p.P676L	RUSC1-AS1_uc001fki.3_5'Flank|RUSC1_uc001fkk.2_Intron|RUSC1_uc009wqo.1_Missense_Mutation_p.P207L|RUSC1_uc001fkl.2_Missense_Mutation_p.P266L|RUSC1_uc001fkp.2_Missense_Mutation_p.P207L|RUSC1_uc010pgb.1_Missense_Mutation_p.P174L|RUSC1_uc009wqp.1_Missense_Mutation_p.P201L|RUSC1_uc001fko.2_Intron|RUSC1_uc001fkn.2_5'UTR|RUSC1_uc001fkr.2_Missense_Mutation_p.P207L	NM_001105203	NP_001098673	Q9BVN2	RUSC1_HUMAN	Homo sapiens RUN and SH3 domain containing 1 (RUSC1), transcript variant 1, mRNA.	676						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CTGGGCCCACCTCAGGCCCCT	0.657													69	99					0	0	1	0	0	T	155296536	C	T	155296536	3	4	153	1	0	0	0	0	1	0	0	0	13750	681	24	3	2184	3	RUSC1	1	155296536	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	36780353	155296536	93954085	2	6840											
C1orf9	51430	broad.mit.edu	37	chr1	172579290	172579290	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggaaaattgataaaaactcTaatacagactaagtcgggat	19	9	8	5	1	1	2	0	1	1	1	2	4	1	4	0	2	2	0	0	2	8	5			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr1:172579290T>G	uc001giq.4	+	23	3972	c.3656T>G	c.(3655-3657)cTa>cGa	p.L1219R	C1orf9_uc009wwd.3_Missense_Mutation_p.L1175R|C1orf9_uc010pmn.2_Missense_Mutation_p.L848R|C1orf9_uc010pmo.2_Non-coding_Transcript	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	Homo sapiens chromosome 1 open reading frame 9 (C1orf9), transcript variant 1, mRNA.	1219					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane		p.L1219V(1)		breast(1)|endometrium(5)|large_intestine(10)|lung(14)|ovary(2)|skin(2)|urinary_tract(1)	35		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		ATAAAAACTCTAATACAGACT	0.418													19	27					0	0	1	0	0	G	172579290	T	G	172579290	3	3	153	1	0	0	0	0	1	0	0	0	2067	1522	53	5	3750	5	C1orf9	1	172579290	Missense_Mutation	SNP	T	TCGA-FG-A4MU-01B-11D-A289-08	17282754	172579290	76671331	3	6841											
PCNXL2	80003	broad.mit.edu	37	chr1	233150466	233150466	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcctccccagggtgcacaGggcgaaggacagagtcacca	10	5	12	14	1	2	1	1	0	1	1	4	3	3	2	4	3	1	1	4	3	1	0			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr1:233150466G>A	uc001hvl.2	-	27	5132	c.4897C>T	c.(4897-4899)Ctg>Ttg	p.L1633L	PCNXL2_uc001hvk.1_Silent_p.L285L|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1633						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGGGTGCACAGGGCGAAGGAC	0.542													32	63					0	0	1	0	0	A	233150466	G	A	233150466	2	1	153	1	0	0	0	0	0	0	0	1	11592	991	35	3		3	PCNXL2	1	233150466	Silent	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	60571176	233150466	16100155	4	6842											
OR2T3	343173	broad.mit.edu	37	chr1	248637422	248637422	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcatagtgctgctgctcttCggtgcttccttctacaccta	6	15	7	13	1	3	0	1	0	2	0	5	0	4	0	2	1	5	4	2	1	3	6			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr1:248637422C>T	uc001iel.1	+	0	771	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGCTGCTCTTCGGTGCTTCCT	0.552													41	302					0	0	1	0	0	T	248637422	C	T	248637422	2	4	153	1	0	0	0	0	0	0	0	1	11023	883	31	2		2	OR2T3	1	248637422	Silent	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	15486956	248637422	613199	5	6843											
OR2T34	127068	broad.mit.edu	37	chr1	248737288	248737288	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taggtgtagaaggaagcaccGaagagcagcagcactatgat	15	6	13	7	1	0	3	0	1	0	2	0	5	0	4	1	2	4	5	1	2	6	3			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr1:248737288G>A	uc001iep.1	-	0	771	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGAAGCACCGAAGAGCAGCA	0.557													35	48					0	0	1	0	0	A	248737288	G	A	248737288	2	1	153	1	0	0	0	0	0	0	0	1	11025	1049	37	2		2	OR2T34	1	248737288	Silent	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	99866	248737288	513333	6	6844											
VRK2	7444	broad.mit.edu	37	chr2	58358955	58358955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctatagccttgtccagacGaagtgacgttgagatcctcg	9	11	10	11	3	0	3	0	2	0	2	4	5	3	3	4	0	1	1	4	0	3	4			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr2:58358955G>A	uc002rzo.2	+	11	1434	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	VRK2_uc010fcb.2_Missense_Mutation_p.R230Q|VRK2_uc002rzt.3_Missense_Mutation_p.R112Q|VRK2_uc002rzs.3_Missense_Mutation_p.R230Q|VRK2_uc002rzv.3_Missense_Mutation_p.R230Q|VRK2_uc010fcd.3_Missense_Mutation_p.R207Q|VRK2_uc002rzu.3_Missense_Mutation_p.R230Q|VRK2_uc010fcc.3_Missense_Mutation_p.R112Q|VRK2_uc002rzp.3_Missense_Mutation_p.R230Q|VRK2_uc010ypg.2_Missense_Mutation_p.R230Q|VRK2_uc010yph.1_Missense_Mutation_p.R112Q	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN	Homo sapiens vaccinia related kinase 2 (VRK2), transcript variant 4, mRNA.	230	Protein kinase.					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						TTGTCCAGACGAAGTGACGTT	0.478													33	39					0	0	1	0	0	A	58358955	G	A	58358955	3	1	153	1	0	0	0	0	1	0	0	0	17217	1058	37	2	719	2	VRK2	2	58358955	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08		58358955	184840418	7	6845											
RANBP2	5903	broad.mit.edu	37	chr2	109400287	109400287	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catggatactgtgaaaaagaTtgaatcatttggttctccca	13	13	8	7	0	2	3	1	2	1	1	3	4	2	4	1	2	1	1	1	2	4	4			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr2:109400287T>C	uc002tem.4	+	28	9731	c.9605T>C	c.(9604-9606)aTt>aCt	p.I3202T	CCDC138_uc002ten.1_5'Flank|CCDC138_uc002teo.1_5'Flank|CCDC138_uc002tep.1_5'Flank|CCDC138_uc010fjm.1_5'Flank	NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	3202	PPIase cyclophilin-type.				carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GTGAAAAAGATTGAATCATTT	0.328													29	39					0	0	1	0	0	C	109400287	T	C	109400287	3	2	153	1	0	0	0	0	1	0	0	0	13028	1493	52	3	9719	3	RANBP2	2	109400287	Missense_Mutation	SNP	T	TCGA-FG-A4MU-01B-11D-A289-08	51041332	109400287	133799086	8	6846											
DPP10	57628	broad.mit.edu	37	chr2	116525951	116525951	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcaagggggacgtggagaaTttcaccacgtagctatgttc	11	9	13	8	2	1	1	1	0	0	1	2	3	1	2	1	3	2	4	1	3	4	4			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr2:116525951T>A	uc002tle.3	+	12	1225	c.1204T>A	c.(1204-1206)Ttt>Att	p.F402I	DPP10_uc002tla.2_Missense_Mutation_p.F398I|DPP10_uc002tlb.2_Missense_Mutation_p.F348I|DPP10_uc002tlc.2_Missense_Mutation_p.F394I|DPP10_uc002tlf.2_Missense_Mutation_p.F391I	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	398					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ACGTGGAGAATTTCACCACGT	0.463													24	31					0	0	1	0	0	A	116525951	T	A	116525951	3	1	153	1	0	0	0	0	1	0	0	0	4727	1493	52	5	1413	5	DPP10	2	116525951	Missense_Mutation	SNP	T	TCGA-FG-A4MU-01B-11D-A289-08	7125664	116525951	126673422	9	6847											
CERKL	375298	broad.mit.edu	37	chr2	182468728	182468728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgctgtttaacagaacaaCgccgtttcagtttcacagag	11	12	8	10	2	3	2	2	0	1	2	3	2	3	2	1	0	4	4	1	0	3	4			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr2:182468728C>T	uc002unx.3	-	1	418	c.317G>A	c.(316-318)cGt>cAt	p.R106H	CERKL_uc010frk.3_Non-coding_Transcript|CERKL_uc002uny.3_Missense_Mutation_p.R106H|CERKL_uc010zfm.2_Missense_Mutation_p.R106H|CERKL_uc002unz.3_5'UTR|CERKL_uc002uoa.3_Missense_Mutation_p.R106H|CERKL_uc002uob.3_5'UTR|CERKL_uc002uoc.3_Missense_Mutation_p.R106H|CERKL_uc021vth.1_5'UTR|CERKL_uc021vti.1_5'UTR|CERKL_uc021vtj.1_5'UTR|CERKL_uc021vtk.1_5'UTR|CERKL_uc021vtl.1_5'UTR|CERKL_uc021vtm.1_5'UTR|CERKL_uc002uod.2_5'UTR|CERKL_uc002uoe.3_Missense_Mutation_p.R106H	NM_001030311	NP_001025482	Q49MI3	CERKL_HUMAN	Homo sapiens ceramide kinase-like (CERKL), transcript variant 2, mRNA.	106			R -> S (in RP26).		activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	Golgi apparatus|endoplasmic reticulum|nucleolus	diacylglycerol kinase activity	p.R106H(3)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			AACAGAACAACGCCGTTTCAG	0.313													7	17					0	0	1	0	0	T	182468728	C	T	182468728	3	4	153	1	0	0	0	0	1	0	0	0	3268	536	19	1	1411	1	CERKL	2	182468728	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	65942777	182468728	60730645	10	6848											
CCDC108	255101	broad.mit.edu	37	chr2	219893020	219893020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggtagagcgtcaggcccCgggccaggtgtgtgcggtac	5	6	20	10	3	1	1	1	0	0	1	1	1	1	1	3	6	3	2	3	6	2	2	rs147414922		TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr2:219893020C>T	uc002vjl.1	-	11	1838	c.1754G>A	c.(1753-1755)cGg>cAg	p.R585Q	CCDC108_uc010fwa.1_Missense_Mutation_p.R28Q|CCDC108_uc010zkp.1_Missense_Mutation_p.R574Q|CCDC108_uc010zkq.1_Missense_Mutation_p.R520Q	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	585						integral to membrane	structural molecule activity	p.R585R(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGTCAGGCCCCGGGCCAGGTG	0.617													65	76					0	0	1	0	0	T	219893020	C	T	219893020	3	4	153	1	0	0	0	0	1	0	0	0	2743	652	23	2	4119	2	CCDC108	2	219893020	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	37424292	219893020	23306353	11	6849											
SP100	6672	broad.mit.edu	37	chr2	231331885	231331885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgaggaggaggcgcccGcagaagcctcgagcggggca	9	2	18	12	4	0	2	0	1	0	1	1	5	0	4	3	5	2	2	3	5	1	0	rs144727058		TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr2:231331885G>A	uc002vqt.3	+	12	1387	c.1246G>A	c.(1246-1248)Gca>Aca	p.A416T	SP100_uc002vqs.3_Missense_Mutation_p.A416T|SP100_uc002vqu.1_Missense_Mutation_p.A416T|SP100_uc002vqq.2_Missense_Mutation_p.A416T|SP100_uc010zmc.2_Missense_Mutation_p.A391T|SP100_uc002vqv.2_Missense_Mutation_p.A381T	NM_003113	NP_003104	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA.	416					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of cellular component movement|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	PML body|cytoplasm|nuclear periphery|nucleolus	DNA binding|chromo shadow domain binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	p.P415P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGAGGCGCCCGCAGAAGCCTC	0.527													87	104					0	0	1	0	0	A	231331885	G	A	231331885	3	1	153	1	0	0	0	0	1	0	0	0	14960	1087	38	1	1296	1	SP100	2	231331885	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	11438865	231331885	11867488	12	6850											
UGT1A1	54658	broad.mit.edu	37	chr2	234590757	234590757	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcatgaggtggtcgtagtCatgccagaggtgagttggca	8	9	18	6	1	1	3	1	2	0	1	2	3	1	3	1	5	1	4	1	5	1	2			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr2:234590757C>T	uc002vut.3	+	0	174	c.174C>T	c.(172-174)gtC>gtT	p.V58V	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Silent_p.V58V	NM_019077	NP_061950	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A7 (UGT1A7), mRNA.	60					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TGGTCGTAGTCATGCCAGAGG	0.547													70	84					0	0	1	0	0	T	234590757	C	T	234590757	2	4	153	1	0	0	0	0	0	0	0	1	16941	813	29	3		3	UGT1A1	2	234590757	Silent	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	3258872	234590757	8608616	13	6851											
LRRIQ4	344657	broad.mit.edu	37	chr3	169540471	169540471	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatcccgaagagcttcgcCgagctcaggaagatgacgga	11	6	12	12	4	1	3	1	1	0	2	4	7	3	5	3	2	2	2	3	2	2	1			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr3:169540471C>T	uc003fgb.3	+	0	762	c.762C>T	c.(760-762)gcC>gcT	p.A254A		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	254										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						AGAGCTTCGCCGAGCTCAGGA	0.602													21	35					0	0	1	0	0	T	169540471	C	T	169540471	2	4	153	1	0	0	0	0	0	0	0	1	9031	639	23	2		2	LRRIQ4	3	169540471	Silent	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08		169540471	28481959	14	6852											
FAM43A	131583	broad.mit.edu	37	chr3	194408803	194408803	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccaggccgacggcgccagTgcagacgagccccactcggg	7	2	15	17	6	0	1	0	0	0	1	1	3	0	1	5	3	2	1	5	3	0	0			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr3:194408803T>C	uc003fuj.3	+	0	2182	c.1248T>C	c.(1246-1248)agT>agC	p.S416S		NM_153690	NP_710157	Q8N2R8	FA43A_HUMAN	Homo sapiens family with sequence similarity 43, member A (FAM43A), mRNA.	416										breast(2)|central_nervous_system(1)|lung(6)|skin(1)	10	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		ACGGCGCCAGTGCAGACGAGC	0.751													7	6					0	0	1	0	0	C	194408803	T	C	194408803	2	2	153	1	0	0	0	0	0	0	0	1	5562	1693	59	3		3	FAM43A	3	194408803	Silent	SNP	T	TCGA-FG-A4MU-01B-11D-A289-08	24868332	194408803	3613627	15	6853											
ZNF732	654254	broad.mit.edu	37	chr4	265912	265912	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttgtaagatttctctccaGtatgaactttatgtttagca	11	18	6	6	0	1	2	0	1	1	1	3	2	2	2	1	0	2	4	1	0	5	8			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr4:265912G>A	uc021xka.1	-	3	734	c.734C>T	c.(733-735)aCt>aTt	p.T245I	ZNF732_uc011buu.1_Missense_Mutation_p.T213I	NM_001137608	NP_001131080	B4DXR9	ZN732_HUMAN	Homo sapiens zinc finger protein 732 (ZNF732), mRNA.	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						TTTCTCTCCAGTATGAACTTT	0.368													6	18					0	0	1	0	0	A	265912	G	A	265912	3	1	153	1	0	0	0	0	1	0	0	0	18120	1029	36	3	1027	3	ZNF732	4	265912	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08		265912	190888364	16	6854											
C9	735	broad.mit.edu	37	chr5	39364519	39364519	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tactgtgctgtgaggatgctTatttctaaaatgcagattgc	10	15	10	6	0	1	2	0	1	1	1	1	3	1	3	0	1	5	3	0	1	4	5			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr5:39364519T>A	uc003jlv.4	-	0	137	c.48A>T	c.(46-48)atA>atT	p.I16I		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	16					complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TGAGGATGCTTATTTCTAAAA	0.512													7	18					0	0	1	0	0	A	39364519	T	A	39364519	2	1	153	1	0	0	0	0	0	0	0	1	2443	1744	61	5		5	C9	5	39364519	Silent	SNP	T	TCGA-FG-A4MU-01B-11D-A289-08		39364519	141550741	17	6855											
VCAN	1462	broad.mit.edu	37	chr5	82816827	82816827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcaactttgagagattctaCaactgaagaaaaagttccac	16	10	7	8	0	2	4	1	2	1	2	3	5	3	4	1	0	3	1	1	0	6	4			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr5:82816827C>T	uc003kii.3	+	6	3058	c.2702C>T	c.(2701-2703)aCa>aTa	p.T901I	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.T901I|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	901	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AGAGATTCTACAACTGAAGAA	0.408													67	64					0	0	1	0	0	T	82816827	C	T	82816827	3	4	153	1	0	0	0	0	1	0	0	0	17135	478	17	3	2724	3	VCAN	5	82816827	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	43452308	82816827	98098433	18	6856											
GPR98	84059	broad.mit.edu	37	chr5	89933730	89933730	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaaaggtgatgacataccGgaaatgaatgaaactgtaac	18	8	9	6	1	1	4	1	4	0	0	1	5	1	5	1	2	3	1	1	2	6	2			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr5:89933730G>A	uc003kju.3	+	10	2301	c.2205G>A	c.(2203-2205)ccG>ccA	p.P735P	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	735	Calx-beta 5.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGACATACCGGAAATGAATG	0.353													23	33					0	0	1	0	0	A	89933730	G	A	89933730	2	1	153	1	0	0	0	0	0	0	0	1	6721	1103	39	2		2	GPR98	5	89933730	Silent	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	7116903	89933730	90981530	19	6857											
FBN2	2201	broad.mit.edu	37	chr5	127800539	127800539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcacagcacagagtcttcGtgcagacaatgcctgtcagc	10	8	11	12	1	2	2	1	0	1	2	3	2	2	2	1	1	4	3	1	1	1	1			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr5:127800539G>A	uc003kuu.3	-	5	1143	c.704C>T	c.(703-705)aCg>aTg	p.T235M	FBN2_uc003kuv.2_Missense_Mutation_p.T202M|FBN2_uc003kuw.4_Missense_Mutation_p.T235M	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	235	TB 1.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CAGAGTCTTCGTGCAGACAAT	0.577													37	59					0	0	1	0	0	A	127800539	G	A	127800539	3	1	153	1	0	0	0	0	1	0	0	0	5703	1145	40	1	8274	1	FBN2	5	127800539	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	37866809	127800539	53114721	20	6858											
GRM4	2914	broad.mit.edu	37	chr6	34004320	34004320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgctcacccggttggcaggGcaggctgcagatggagcggg	6	5	18	12	3	1	1	1	0	0	1	1	2	1	2	2	6	2	6	2	6	0	1			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr6:34004320G>A	uc003oir.4	-	7	1930	c.1567C>T	c.(1567-1569)Ccc>Tcc	p.P523S	GRM4_uc011dsn.2_Missense_Mutation_p.P476S|GRM4_uc010jvh.3_Missense_Mutation_p.P523S|GRM4_uc010jvi.3_Missense_Mutation_p.P215S|GRM4_uc003oio.3_Missense_Mutation_p.P215S|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Missense_Mutation_p.P383S|GRM4_uc003oiq.3_Missense_Mutation_p.P390S|GRM4_uc011dsm.2_Missense_Mutation_p.P354S	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	523					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GGTTGGCAGGGCAGGCTGCAG	0.632													35	36					0	0	1	0	0	A	34004320	G	A	34004320	3	1	153	1	0	0	0	0	1	0	0	0	6799	1203	42	3	1183	3	GRM4	6	34004320	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08		34004320	137110747	21	6859											
FGD2	221472	broad.mit.edu	37	chr6	36979617	36979617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcccagagctgcagcggCgcctggacgactggtgaggt	6	7	15	13	3	0	2	0	1	0	1	2	4	2	3	3	4	3	2	3	4	0	0			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr6:36979617C>T	uc010jwp.1	+	3	685	c.514C>T	c.(514-516)Cgc>Tgc	p.R172C	FGD2_uc003ong.2_5'UTR|FGD2_uc011dtv.1_Intron|FGD2_uc003oni.1_5'Flank	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	172	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	p.R172H(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						GCTGCAGCGGCGCCTGGACGA	0.617													23	32					0	0	1	0	0	T	36979617	C	T	36979617	3	4	153	1	0	0	0	0	1	0	0	0	5833	768	27	1	528	1	FGD2	6	36979617	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	2975297	36979617	134135450	22	6860											
COL9A1	1297	broad.mit.edu	37	chr6	70972973	70972973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgagctccaacttctcCgagttctccctggtcacctt	5	14	6	16	1	3	1	1	1	2	0	7	2	5	1	5	1	2	2	5	1	1	4	rs148011193		TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr6:70972973C>T	uc003pfg.4	-	18	1528	c.1369G>A	c.(1369-1371)Gga>Aga	p.G457R	COL9A1_uc003pfe.4_Missense_Mutation_p.G30R|COL9A1_uc003pff.4_Missense_Mutation_p.G214R	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	457	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.G457A(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCAACTTCTCCGAGTTCTCCC	0.323													6	13					0	0	1	0	0	T	70972973	C	T	70972973	3	4	153	1	0	0	0	0	1	0	0	0	3707	661	23	2	1476	2	COL9A1	6	70972973	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	33993356	70972973	100142094	23	6861											
SMAP1	60682	broad.mit.edu	37	chr6	71501425	71501425	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgctcctcttcagcctttgGtatcctctccttctctgcaa	5	16	5	15	0	4	0	1	0	3	0	8	0	6	0	4	1	3	3	4	1	2	4			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr6:71501425G>T	uc003pfr.3	+	4	696	c.448G>T	c.(448-450)Gta>Tta	p.V150L	SMAP1_uc011dxy.1_Intron|SMAP1_uc003pfs.3_Intron|SMAP1_uc010kao.3_Intron|SMAP1_uc010kap.3_Missense_Mutation_p.V140L	NM_001044305	NP_001037770	Q8IYB5	SMAP1_HUMAN	Homo sapiens small ArfGAP 1 (SMAP1), transcript variant 1, mRNA.	150					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						TCAGCCTTTGGTATCCTCTCC	0.393													46	59					7.77372e-23	8.67069e-23	1	1	0	T	71501425	G	T	71501425	3	4	153	1	0	0	0	0	1	0	0	0	14766	1261	44	5	466	5	SMAP1	6	71501425	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	528452	71501425	99613642	24	6862											
KIAA1244	57221	broad.mit.edu	37	chr6	138575103	138575103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccatgcacctgcacaggcGcttcacggacctgatctggt	7	9	10	15	2	2	1	1	1	1	0	3	2	3	2	3	3	2	3	3	3	0	1			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr6:138575103G>A	uc003qhu.3	+	8	923	c.752G>A	c.(751-753)cGc>cAc	p.R251H		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	251					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CTGCACAGGCGCTTCACGGAC	0.612													5	9					0	0	1	0	0	A	138575103	G	A	138575103	3	1	153	1	0	0	0	0	1	0	0	0	8217	1087	38	1	786	1	KIAA1244	6	138575103	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	67073678	138575103	32539964	25	6863											
HOXA6	3203	broad.mit.edu	37	chr7	27187208	27187208	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgttggtagaaacaaggtGaggtgtacgtcttgtccggg	9	11	15	6	2	1	2	0	1	1	1	2	2	2	2	1	4	2	3	1	4	4	4			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr7:27187208G>T	uc003syo.2	-	0	186	c.161C>A	c.(160-162)tCa>tAa	p.S54*	HOXA-AS3_uc003syr.2_Intron|HOXA-AS3_uc003syp.2_Intron|HOXA6_uc003syq.1_Intron	NM_024014	NP_076919	P31267	HXA6_HUMAN	Homo sapiens homeobox A6 (HOXA6), mRNA.	54						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						GAAACAAGGTGAGGTGTACGT	0.612													34	92					9.65963e-10	1.00046e-09	1	1	0	T	27187208	G	T	27187208	4	4	153	1	0	0	0	0	0	1	0	0	7296	1294	45	5	548	5	HOXA6	7	27187208	Nonsense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08		27187208	131951455	26	6864											
EGFR	1956	broad.mit.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtcaagacctgcccggcagGagtcatgggagaaaacaaca	14	4	12	11	2	2	2	2	0	0	2	2	4	2	3	2	3	3	1	2	3	4	0	rs139236063		TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr7:55233043G>T	uc003tqk.3	+	14	2039	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(31)|p.A597T(1)|p.A597P(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			5079	207					0	0	1	1	0	T	55233043	G	T	55233043	3	4	153	1	0	0	0	0	1	0	0	0	4967	1174	41	5	1862	5	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	28045835	55233043	103905620	27	6865											
PCLO	27445	broad.mit.edu	37	chr7	82582077	82582077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctacctttggtactgtaCgcaaatcaattacatcacca	12	13	4	12	1	3	0	2	0	1	0	3	0	3	0	2	1	4	3	2	1	6	6			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr7:82582077C>T	uc003uhx.2	-	4	8481	c.8192G>A	c.(8191-8193)cGt>cAt	p.R2731H	PCLO_uc003uhv.2_Missense_Mutation_p.R2731H|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2662					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGTACTGTACGCAAATCAAT	0.353													9	21					0	0	1	0	0	T	82582077	C	T	82582077	3	4	153	1	0	0	0	0	1	0	0	0	11583	536	19	1	7337	1	PCLO	7	82582077	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	27349034	82582077	76556586	28	6866											
TECPR1	25851	broad.mit.edu	37	chr7	97874267	97874267	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	actcccactcccagtgcggcGagggcagtgccaccctgtcc	6	6	11	18	2	0	0	0	0	0	0	3	1	3	0	5	2	2	1	5	2	0	0			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr7:97874267G>C	uc003upg.3	-	3	543	c.338C>G	c.(337-339)tCg>tGg	p.S113W	TECPR1_uc003uph.1_Missense_Mutation_p.S34W	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.	113						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCAGTGCGGCGAGGGCAGTGC	0.617													10	45					0	0	1	0	0	C	97874267	G	C	97874267	3	2	153	1	0	0	0	0	1	0	0	0	15740	1059	37	5	3251	5	TECPR1	7	97874267	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	15292190	97874267	61264396	29	6867											
GAL3ST4	79690	broad.mit.edu	37	chr7	99758141	99758141	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagagtccagccatgccaGaccccactggatgaaggatg	12	5	12	12	0	0	3	0	1	0	2	1	6	1	5	5	2	2	0	5	2	1	0			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr7:99758141G>T	uc003utt.3	-	2	1888	c.871C>A	c.(871-873)Ctg>Atg	p.L291M	C7orf43_uc011kjj.2_5'Flank|C7orf43_uc003utr.3_5'Flank|C7orf43_uc003uts.3_5'Flank|GAL3ST4_uc022aii.1_Missense_Mutation_p.L229M|GAL3ST4_uc003utu.3_Missense_Mutation_p.L291M	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 4 (GAL3ST4), mRNA.	291					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCCATGCCAGACCCCACTGG	0.527													64	171					1.35869e-18	1.49627e-18	1	1	0	T	99758141	G	T	99758141	3	4	153	1	0	0	0	0	1	0	0	0	6200	933	33	5	593	5	GAL3ST4	7	99758141	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	1883874	99758141	59380522	30	6868											
RELN	5649	broad.mit.edu	37	chr7	103163890	103163890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcacatgtctatgcagcCatccccgatatagacattat	12	11	6	12	1	1	1	0	0	1	1	2	2	2	1	3	0	3	2	3	0	4	4	rs150236371	byFrequency	TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr7:103163890C>T	uc022ajr.1	-	46	7598	c.7438G>A	c.(7438-7440)Ggc>Agc	p.G2480S	RELN_uc022ajq.1_Missense_Mutation_p.G2480S|RELN_uc010liz.3_Missense_Mutation_p.G2480S	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2480	EGF-like 6.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCTATGCAGCCATCCCCGATA	0.473													61	150					0	0	1	0	0	T	103163890	C	T	103163890	3	4	153	1	0	0	0	0	1	0	0	0	13220	594	21	3	3020	3	RELN	7	103163890	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	3405749	103163890	55974773	31	6869											
NUDT18	79873	broad.mit.edu	37	chr8	21965732	21965732	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggctcacagtgcagcccCgcctcctccttcacctcccg	4	8	8	21	3	2	0	2	0	0	0	6	0	5	0	7	1	2	2	7	1	0	1			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr8:21965732C>T	uc003xaq.1	-	2	931	c.288G>A	c.(286-288)gcG>gcA	p.A96A	NUDT18_uc003xar.1_3'UTR	NM_024815	NP_079091	Q6ZVK8	NUD18_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 18 (NUDT18), mRNA.	96	Nudix hydrolase.						hydrolase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|lung(2)	4				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		AGTGCAGCCCCGCCTCCTCCT	0.697													3	11					0	0	1	0	0	T	21965732	C	T	21965732	2	4	153	1	0	0	0	0	0	0	0	1	10735	639	23	2		2	NUDT18	8	21965732	Silent	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08		21965732	124398290	32	6870											
SOX17	64321	broad.mit.edu	37	chr8	55370802	55370802	+	Nonsense_Mutation	SNP	C	C	A																															cccctgcccctgggccgagtCgctgagccccatcggggaca																										TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr8:55370802C>A	uc003xsb.4	+	0	308	c.104C>A	c.(103-105)tCg>tAg	p.S35*		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	Homo sapiens SRY (sex determining region Y)-box 17 (SOX17), mRNA.	35					Wnt receptor signaling pathway|angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			TGGGCCGAGTCGCTGAGCCCC	0.741													9	14					5.4927e-09	5.62194e-09	1	1	0	A	55370802	C	A	55370802	4	1	153	1	0	0	0	0	0	1	0	0	14947	893	31	5	106	5	SOX17	8	55370802	Nonsense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	33405070	55370802	90993220	33	6871	26	2									
SOX17	64321	broad.mit.edu	37	chr8	55370804	55370804	+	Silent	SNP	C	C	T																															cctgcccctgggccgagtcgCtgagccccatcggggacatg																										TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr8:55370804C>T	uc003xsb.4	+	0	310	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	Homo sapiens SRY (sex determining region Y)-box 17 (SOX17), mRNA.	36					Wnt receptor signaling pathway|angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			GGCCGAGTCGCTGAGCCCCAT	0.746													9	17					0	0	1	0	0	T	55370804	C	T	55370804	2	4	153	1	0	0	0	0	0	0	0	1	14947	796	28	3		3	SOX17	8	55370804	Silent	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	2	55370804	90993218	34	6872	26	2									
RP1	6101	broad.mit.edu	37	chr8	55538939	55538939	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgagcaaaaacccaaagatTtttatgcaccgcaatctcaa	16	10	5	10	1	1	2	1	1	1	1	2	2	1	2	2	0	3	3	2	0	6	4			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr8:55538939T>A	uc003xsd.1	+	3	2645	c.2497T>A	c.(2497-2499)Ttt>Att	p.F833I	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	833					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACCCAAAGATTTTTATGCACC	0.323													12	20					0	0	1	0	0	A	55538939	T	A	55538939	3	1	153	1	0	0	0	0	1	0	0	0	13532	1841	64	5	2507	5	RP1	8	55538939	Missense_Mutation	SNP	T	TCGA-FG-A4MU-01B-11D-A289-08	168135	55538939	90825083	35	6873											
GDF6	392255	broad.mit.edu	37	chr8	97156959	97156959	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagcgtctggatgatggcGtggttggtgggctccaggtg	5	11	18	7	2	2	1	1	1	1	0	3	2	3	2	1	6	1	2	1	6	0	1			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr8:97156959G>A	uc003yhp.3	-	1	1300	c.1200C>T	c.(1198-1200)caC>caT	p.H400H		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	Homo sapiens growth differentiation factor 6 (GDF6), mRNA.	400					BMP signaling pathway|activin receptor signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GGATGATGGCGTGGTTGGTGG	0.617													3	45					0	0	1	0	0	A	97156959	G	A	97156959	2	1	153	1	0	0	0	0	0	0	0	1	6317	1136	40	1		1	GDF6	8	97156959	Silent	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	41618020	97156959	49207063	36	6874											
COL22A1	169044	broad.mit.edu	37	chr8	139890331	139890331	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccccgtggtaggcgagaCgccgggcagccgccttgacc	5	5	15	16	5	0	2	0	1	0	1	0	3	0	2	6	3	2	2	6	3	1	2			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr8:139890331C>T	uc003yvd.3	-	2	767	c.320G>A	c.(319-321)cGt>cAt	p.R107H		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	107	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.R107H(2)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GTAGGCGAGACGCCGGGCAGC	0.721										HNSCC(7;0.00092)			5	6					0	0	1	0	0	T	139890331	C	T	139890331	3	4	153	1	0	0	0	0	1	0	0	0	3681	536	19	1	4812	1	COL22A1	8	139890331	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	42733372	139890331	6473691	37	6875											
PLEC	5339	broad.mit.edu	37	chr8	144995970	144995970	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaccgtggtgtggccctgCgccaaccgctgcagctcctc	4	8	11	18	3	0	0	0	0	0	0	3	0	2	0	6	2	4	3	6	2	1	0			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr8:144995970C>T	uc003zaf.1	-	31	8600	c.8430G>A	c.(8428-8430)gcG>gcA	p.A2810A	PLEC_uc003zab.1_Silent_p.A2673A|PLEC_uc003zac.1_Silent_p.A2677A|PLEC_uc003zad.2_Silent_p.A2673A|PLEC_uc003zae.1_Silent_p.A2641A|PLEC_uc003zag.1_Silent_p.A2651A|PLEC_uc003zah.2_Silent_p.A2659A|PLEC_uc003zaj.2_Silent_p.A2700A	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	2810	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGTGGCCCTGCGCCAACCGCT	0.682													42	37					0	0	1	0	0	T	144995970	C	T	144995970	2	4	153	1	0	0	0	0	0	0	0	1	12052	755	27	1		1	PLEC	8	144995970	Silent	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	5105639	144995970	1368052	38	6876											
SUSD3	203328	broad.mit.edu	37	chr9	95838087	95838087	+	Frame_Shift_Del	DEL	T	T	-																															cacgtgcgctaagctgcggcTacccccgcaagcaaccttcc																										TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr9:95838087delT	uc004atb.3	+	1	146	c.110delT	c.(109-111)ctafs	p.L37fs	SUSD3_uc004atc.3_Frame_Shift_Del_p.L24fs	NM_145006	NP_659443	Q96L08	SUSD3_HUMAN	Homo sapiens sushi domain containing 3 (SUSD3), mRNA.	37	Sushi.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						AAGCTGCGGCTACCCCCGCAA	0.677													23	54	---	---	---	---						-	95838087	T	-	95838087	7	5	153	1	0	1	0	1	0	0	0	0	15406	1522	53	0	116	0	SUSD3	9	95838087	Frame_Shift_Del	DEL	T	TCGA-FG-A4MU-01B-11D-A289-08		95838087	45375344	39	6877											
COL5A1	1289	broad.mit.edu	37	chr9	137701113	137701113	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccagctggccctgtgggtCcccctggagaagacggagat	7	7	15	12	1	0	3	0	0	0	3	2	5	2	3	4	4	1	1	4	4	1	0			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr9:137701113C>A	uc004cfe.3	+	42	3833	c.3451C>A	c.(3451-3453)Ccc>Acc	p.P1151T		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1151	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCTGTGGGTCCCCCTGGAGA	0.632													4	8					0.00909568	0.00909568	1	1	0	A	137701113	C	A	137701113	3	1	153	1	0	0	0	0	1	0	0	0	3696	855	30	5	3621	5	COL5A1	9	137701113	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	41863026	137701113	3512318	40	6878											
MUC2	4583	broad.mit.edu	37	chr11	1102176	1102176	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgtcatcgcctgcacccaCgtgccctgcaacacctcctg	8	7	7	19	3	1	0	1	0	0	0	3	0	2	0	5	0	5	2	5	0	2	0			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr11:1102176C>T	uc001lsx.1	+	45	7827	c.7800C>T	c.(7798-7800)caC>caT	p.H2600H		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4966						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCTGCACCCACGTGCCCTGCA	0.617													42	46					0	0	1	0	0	T	1102176	C	T	1102176	2	4	153	1	0	0	0	0	0	0	0	1	9975	535	19	1		1	MUC2	11	1102176	Silent	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08		1102176	133904340	41	6879											
TOLLIP	54472	broad.mit.edu	37	chr11	1298448	1298448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggccgggggcagggccaCgggcaccatgccggggctac	5	2	20	14	4	0	0	0	0	0	0	0	0	0	0	4	8	2	3	4	8	1	1			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr11:1298448C>T	uc001lte.3	-	5	810	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	TOLLIP_uc001ltd.3_Missense_Mutation_p.V147M|TOLLIP_uc009ycu.3_Missense_Mutation_p.V155M|TOLLIP_uc001ltf.3_Missense_Mutation_p.V166M	NM_019009	NP_061882	Q9H0E2	TOLIP_HUMAN	Homo sapiens toll interacting protein (TOLLIP), mRNA.	216					cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation	cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex	Toll-like receptor binding|kinase binding|signal transducer activity			large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		GGCAGGGCCACGGGCACCATG	0.607													53	47					0	0	1	0	0	T	1298448	C	T	1298448	3	4	153	1	0	0	0	0	1	0	0	0	16347	536	19	1	182	1	TOLLIP	11	1298448	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	196272	1298448	133708068	42	6880											
ZNF215	7762	broad.mit.edu	37	chr11	6953559	6953559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcgaaacctgtctctacGtgaacaaagagaggttctga	13	9	9	10	2	2	3	0	2	2	1	4	5	2	3	2	1	3	1	2	1	4	2			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr11:6953559G>A	uc001mey.3	+	2	644	c.56G>A	c.(55-57)cGt>cAt	p.R19H	ZNF215_uc010raw.2_Missense_Mutation_p.R19H|ZNF215_uc010rax.2_5'UTR|ZNF215_uc001mez.1_Missense_Mutation_p.R19H	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	19					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		CTGTCTCTACGTGAACAAAGA	0.473													48	57					0	0	1	0	0	A	6953559	G	A	6953559	3	1	153	1	0	0	0	0	1	0	0	0	17768	1145	40	1	58	1	ZNF215	11	6953559	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	5655111	6953559	128052957	43	6881											
MRGPRX2	117194	broad.mit.edu	37	chr11	19077575	19077575	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggacggacaggcagcgctcGgtgctgacggtgctcagcat	8	6	16	11	4	1	1	1	1	0	0	2	3	1	3	0	5	4	5	0	5	0	0			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr11:19077575G>A	uc001mph.3	-	1	463	c.375C>T	c.(373-375)acC>acT	p.T125T	MRGPRX2_uc021qer.1_Silent_p.T125T	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA.	125					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						GGCAGCGCTCGGTGCTGACGG	0.602													41	64					0	0	1	0	0	A	19077575	G	A	19077575	2	1	153	1	0	0	0	0	0	0	0	1	9767	1103	39	2		2	MRGPRX2	11	19077575	Silent	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	12124016	19077575	115928941	44	6882											
AMBRA1	55626	broad.mit.edu	37	chr11	46419176	46419176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttggctgggttggctcccGcccaggggtaccaggctggt	3	9	18	11	1	0	0	0	0	0	0	1	0	1	0	3	8	1	6	3	8	1	3			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr11:46419176G>A	uc001ncv.2	-	19	4044	c.3730C>T	c.(3730-3732)Cgg>Tgg	p.R1244W	AMBRA1_uc010rgt.1_3'UTR|AMBRA1_uc009ylc.1_Missense_Mutation_p.R1212W|AMBRA1_uc001ncu.1_Missense_Mutation_p.R1151W|AMBRA1_uc010rgu.1_Missense_Mutation_p.R1241W|AMBRA1_uc001ncw.2_Missense_Mutation_p.R1122W|AMBRA1_uc001ncx.2_Missense_Mutation_p.R1181W	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	1241					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GTTGGCTCCCGCCCAGGGGTA	0.672													30	42					0	0	1	0	0	A	46419176	G	A	46419176	3	1	153	1	0	0	0	0	1	0	0	0	565	1086	38	1	179	1	AMBRA1	11	46419176	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	27341601	46419176	88587340	45	6883											
OR5R1	219479	broad.mit.edu	37	chr11	56185615	56185615	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgaccagatagataactaAaaacaccccaaagcacgggg	17	5	9	10	1	0	3	0	1	0	2	0	3	0	3	3	2	3	1	3	2	6	3			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr11:56185615A>G	uc010rji.2	-	0	94	c.94T>C	c.(94-96)Tta>Cta	p.L32L	OR8U8_uc001nit.2_Intron	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA.	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TAGATAACTAAAAACACCCCA	0.418													55	67					0	0	1	0	0	G	56185615	A	G	56185615	2	3	153	1	0	0	0	0	0	0	0	1	11180	11	1	3		3	OR5R1	11	56185615	Silent	SNP	A	TCGA-FG-A4MU-01B-11D-A289-08	9766439	56185615	78820901	46	6884											
HEPHL1	341208	broad.mit.edu	37	chr11	93796832	93796832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaccattcgcacatcgacGccccaaaggacatctgctct	10	9	7	15	3	2	0	0	0	2	0	4	2	2	1	3	1	2	3	3	1	2	2			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr11:93796832G>A	uc001pep.2	+	2	731	c.574G>A	c.(574-576)Gcc>Acc	p.A192T		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	192	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GCACATCGACGCCCCAAAGGA	0.522													58	71					0	0	1	0	0	A	93796832	G	A	93796832	3	1	153	1	0	0	0	0	1	0	0	0	7055	1087	38	1	584	1	HEPHL1	11	93796832	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	37611217	93796832	41209684	47	6885											
ADAMTS15	170689	broad.mit.edu	37	chr11	130340895	130340895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaccggctcactctcgccGtggcatgggtgcccaagtac	7	7	11	16	3	2	0	1	0	1	0	3	0	2	0	4	3	3	3	4	3	3	1			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr11:130340895G>A	uc010scd.2	+	5	1801	c.1801G>A	c.(1801-1803)Gtg>Atg	p.V601M		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	601	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CACTCTCGCCGTGGCATGGGT	0.597													89	116					0	0	1	0	0	A	130340895	G	A	130340895	3	1	153	1	0	0	0	0	1	0	0	0	260	1145	40	1	1823	1	ADAMTS15	11	130340895	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	36544063	130340895	4665621	48	6886											
CD163	9332	broad.mit.edu	37	chr12	7635288	7635288	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttagtcaagaagaataatgcGacgaaaatggccaacagaac	19	6	9	7	2	1	3	1	0	0	3	1	5	1	3	1	1	3	0	1	1	9	2			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr12:7635288G>A	uc001qsz.3	-	13	3326	c.3198C>T	c.(3196-3198)gtC>gtT	p.V1066V	CD163_uc001qta.3_Silent_p.V1066V|CD163_uc009zfw.2_Silent_p.V1099V	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	1066					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.V1066I(1)		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						AGAATAATGCGACGAAAATGG	0.423													59	72					0	0	1	0	0	A	7635288	G	A	7635288	2	1	153	1	0	0	0	0	0	0	0	1	2967	1045	37	2		2	CD163	12	7635288	Silent	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08		7635288	126216607	49	6887											
TRPV4	59341	broad.mit.edu	37	chr12	110234444	110234444	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcccataggcccagtccttGaacttgcgggacaggtgccg	7	7	14	13	2	0	1	0	1	0	0	1	2	1	2	4	4	3	0	4	4	2	3			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr12:110234444G>A	uc001tpj.2	-	5	1313	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	TRPV4_uc001tpg.2_Silent_p.F372F|TRPV4_uc021rdp.1_Intron|TRPV4_uc001tph.2_Silent_p.F359F|TRPV4_uc001tpi.2_Intron|TRPV4_uc001tpk.2_Silent_p.F406F	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	406					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CCCAGTCCTTGAACTTGCGGG	0.607													37	51					0	0	1	0	0	A	110234444	G	A	110234444	2	1	153	1	0	0	0	0	0	0	0	1	16595	1281	45	3		3	TRPV4	12	110234444	Silent	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	102599156	110234444	23617451	50	6888											
HECTD1	25831	broad.mit.edu	37	chr14	31576337	31576337	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttggccaagaaaattccaagGaaatgaaacagtttcgtgat	16	10	9	6	1	0	3	0	2	0	1	2	4	1	4	2	2	1	1	2	2	6	3			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr14:31576337G>A	uc001wrc.1	-	37	7230	c.6741C>T	c.(6739-6741)ttC>ttT	p.F2247F	HECTD1_uc001wra.1_Silent_p.F373F|HECTD1_uc001wrb.1_Silent_p.F373F	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	2247	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AAATTCCAAGGAAATGAAACA	0.378													41	57					0	0	1	0	0	A	31576337	G	A	31576337	2	1	153	1	0	0	0	0	0	0	0	1	7039	1165	41	3		3	HECTD1	14	31576337	Silent	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08		31576337	75773203	51	6889											
KLHDC1	122773	broad.mit.edu	37	chr14	50206884	50206885	+	Frame_Shift_Ins	INS	-	-	A																															ggtgggagcaaagatgacttINSacttgccttggatacagtaa																										TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr14:50206884_50206885insA	uc001www.3	+	10	1055_1056	c.965_966insA	c.(964-966)ttafs	p.L322fs	NEMF_uc010anj.1_Intron|KLHDC1_uc010tqg.2_Frame_Shift_Ins_p.L277fs|KLHDC1_uc010tqh.2_Frame_Shift_Ins_p.L237fs	NM_172193	NP_751943	Q8N7A1	KLDC1_HUMAN	Homo sapiens kelch domain containing 1 (KLHDC1), mRNA.	322						cytoplasm				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					AAAGATGACTTACTTGCCTTGG	0.332													18	23	---	---	---	---						A	50206885	-	A	50206884	7	5	153	1	0	1	1	0	0	0	0	0	8354	1764	61	0	1007	0	KLHDC1	14	50206884	Frame_Shift_Ins	INS	-	TCGA-FG-A4MU-01B-11D-A289-08	18630547	50206884	57142656	52	6890											
L2HGDH	79944	broad.mit.edu	37	chr14	50735882	50735882	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaagcatcattacctaccGgataaatatttccttttaca	14	13	5	9	1	1	0	1	0	0	0	2	2	2	2	3	2	4	1	3	2	7	7	rs118204020		TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr14:50735882G>A	uc001wxu.3	-	7	985	c.906_splice	c.e7+1	p.P302_splice	L2HGDH_uc010tqn.2_Splice_Site_p.P302_splice|L2HGDH_uc010tqo.1_Splice_Site_p.P302_splice	NM_024884	NP_079160	Q9H9P8	L2HDH_HUMAN	Homo sapiens L-2-hydroxyglutarate dehydrogenase (L2HGDH), nuclear gene encoding mitochondrial protein, mRNA.	302			P -> L (in L2HGA).		2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					ATTACCTACCGGATAAATATT	0.388													31	45					0	0	1	0	0	A	50735882	G	A	50735882	5	1	153	1	0	0	0	0	0	0	1	0	8590	1130	39	2	502	2	L2HGDH	14	50735882	Splice_Site	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	528998	50735882	56613658	53	6891											
CCDC88C	440193	broad.mit.edu	37	chr14	91770249	91770249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttctccgtctccttggccGtgtggtggttctgcagcagc	2	13	13	13	3	3	0	0	0	3	0	5	0	3	0	3	3	3	4	3	3	0	3			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr14:91770249G>A	uc010aty.3	-	19	3585	c.3431C>T	c.(3430-3432)aCg>aTg	p.T1144M		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1144					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTCCTTGGCCGTGTGGTGGTT	0.657													54	63					0	0	1	0	0	A	91770249	G	A	91770249	3	1	153	1	0	0	0	0	1	0	0	0	2865	1145	40	1	2699	1	CCDC88C	14	91770249	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	41034367	91770249	15579291	54	6892											
IREB2	3658	broad.mit.edu	37	chr15	78730692	78730692	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccggcgatggacgccccaAaagcaggtcagtttcgggcc	8	6	13	14	4	1	0	1	0	0	0	3	2	2	1	4	4	1	2	4	4	2	1			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr15:78730692A>G	uc002bdr.2	+	0	175	c.13A>G	c.(13-15)Aaa>Gaa	p.K5E	IREB2_uc010unb.1_5'UTR|IREB2_uc002bdq.3_Missense_Mutation_p.K5E	NM_004136	NP_004127	P48200	IREB2_HUMAN	Homo sapiens iron-responsive element binding protein 2 (IREB2), mRNA.	5							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	p.P4T(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GGACGCCCCAAAAGCAGGTCA	0.662													6	8					0	0	1	0	0	G	78730692	A	G	78730692	3	3	153	1	0	0	0	0	1	0	0	0	7826	15	1	3	15	3	IREB2	15	78730692	Missense_Mutation	SNP	A	TCGA-FG-A4MU-01B-11D-A289-08		78730692	23800700	55	6893											
AGBL1	123624	broad.mit.edu	37	chr15	86940603	86940603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctttttctgcaggacatcGtccatatcaggtgatcactg	8	13	8	12	1	3	1	2	1	1	0	5	2	4	2	2	2	1	1	2	2	1	3			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr15:86940603G>A	uc002blz.1	+	16	2323	c.2243G>A	c.(2242-2244)cGt>cAt	p.R748H		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	748					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GCAGGACATCGTCCATATCAG	0.403													18	28					0	0	1	0	0	A	86940603	G	A	86940603	3	1	153	1	0	0	0	0	1	0	0	0	375	1145	40	1	2305	1	AGBL1	15	86940603	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	8209911	86940603	15590789	56	6894											
SRRM2	23524	broad.mit.edu	37	chr16	2820396	2820396	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagactccctcagggactctCggtccctcagctactcgcct	6	10	8	17	2	3	1	2	0	1	1	7	2	5	2	3	2	2	1	3	2	2	2			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr16:2820396C>A	uc002crk.3	+	12	8614	c.8065C>A	c.(8065-8067)Cgg>Agg	p.R2689R		NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	2689	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAGGGACTCTCGGTCCCTCAG	0.647													14	13					2.23348e-06	2.25945e-06	1	1	0	A	2820396	C	A	2820396	2	1	153	1	0	0	0	0	0	0	0	1	15168	875	31	5		5	SRRM2	16	2820396	Silent	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08		2820396	87534357	57	6895											
C16orf45	89927	broad.mit.edu	37	chr16	15609218	15609218	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgccagaggagattgagCtggagatggcaaaaattcag	14	8	14	5	0	1	5	1	2	0	3	1	7	1	5	1	3	2	2	1	3	2	2			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr16:15609218C>A	uc002ddo.3	+	1	349	c.163C>A	c.(163-165)Ctg>Atg	p.L55M	C16orf45_uc002ddp.3_Missense_Mutation_p.L38M	NM_033201	NP_149978	Q96MC5	CP045_HUMAN	Homo sapiens chromosome 16 open reading frame 45 (C16orf45), transcript variant 1, mRNA.	55										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						GGAGATTGAGCTGGAGATGGC	0.532													24	35					6.21321e-17	6.67345e-17	1	1	0	A	15609218	C	A	15609218	3	1	153	1	0	0	0	0	1	0	0	0	1814	796	28	5	228	5	C16orf45	16	15609218	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	12788822	15609218	74745535	58	6896											
OR3A2	4995	broad.mit.edu	37	chr17	3181586	3181586	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccaaaggtgtgcctgccAtgatgaaacccacagcaaag	15	5	10	11	0	0	2	0	2	0	0	0	3	0	2	4	1	5	1	4	1	4	0			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr17:3181586A>G	uc002fvg.3	-	0	683	c.644T>C	c.(643-645)aTg>aCg	p.M215T		NM_002551	NP_002542	P47893	OR3A2_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 2 (OR3A2), mRNA.	215					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						TGTGCCTGCCATGATGAAACC	0.547													39	60					0	0	1	0	0	G	3181586	A	G	3181586	3	3	153	1	0	0	0	0	1	0	0	0	11038	217	8	3	325	3	OR3A2	17	3181586	Missense_Mutation	SNP	A	TCGA-FG-A4MU-01B-11D-A289-08		3181586	78013624	59	6897											
MYH13	8735	broad.mit.edu	37	chr17	10267760	10267760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttcttggaatcgaatggacGattttgagcctcgattctct	8	16	9	8	3	2	1	0	1	2	0	5	6	2	3	1	2	1	0	1	2	2	5			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr17:10267760G>A	uc002gmk.1	-	2	178	c.88C>T	c.(88-90)Cgt>Tgt	p.R30C		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	30	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCGAATGGACGATTTTGAGCC	0.463													9	8					0	0	1	0	0	A	10267760	G	A	10267760	3	1	153	1	0	0	0	0	1	0	0	0	10032	1058	37	2	5884	2	MYH13	17	10267760	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	7086174	10267760	70927450	60	6898											
SDK2	54549	broad.mit.edu	37	chr17	71344740	71344741	+	Frame_Shift_Del	DEL	GA	GA	-																															tggccctcctgccctcacctGagagtcggagatttctgagg																										TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr17:71344740_71344741delGA	uc010dfm.3	-	43	6162_6163	c.6162_6163delTC	c.(6160-6165)tctcagfs	p.S2054fs	SDK2_uc002jjt.4_Frame_Shift_Del_p.S1194fs	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	2054					cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCCCTCACCTGAGAGTCGGAGA	0.594													12	23	---	---	---	---						-	71344741	GA	-	71344740	7	5	153	1	0	1	0	1	0	0	0	0	13969	1299	45	0	363	0	SDK2	17	71344740	Frame_Shift_Del	DEL	GA	TCGA-FG-A4MU-01B-11D-A289-08	61076980	71344740	9850470	61	6899											
FHOD3	80206	broad.mit.edu	37	chr18	34298551	34298551	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgaagttcggccttttgActggccatgtaaaaacaacc	13	10	9	9	1	0	2	0	2	0	0	1	3	0	2	3	2	2	2	3	2	6	4			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr18:34298551A>G	uc021uiv.1	+	18	3387	c.3290A>G	c.(3289-3291)gAc>gGc	p.D1097G	FHOD3_uc002kzs.1_Missense_Mutation_p.D922G|FHOD3_uc002kzt.1_Missense_Mutation_p.D905G|FHOD3_uc010dmz.1_Missense_Mutation_p.D637G|FHOD3_uc010dna.1_Missense_Mutation_p.D225G	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	905	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CGGCCTTTTGACTGGCCATGT	0.502													78	105					0	0	1	0	0	G	34298551	A	G	34298551	3	3	153	1	0	0	0	0	1	0	0	0	5883	275	10	3	2827	3	FHOD3	18	34298551	Missense_Mutation	SNP	A	TCGA-FG-A4MU-01B-11D-A289-08		34298551	43778697	62	6900											
CD209	30835	broad.mit.edu	37	chr19	7812221	7812221	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttgtatcctcgagtctgtCggaatccaaggcctctcagc	7	12	9	13	2	3	0	1	0	3	0	8	2	5	1	3	2	1	1	3	2	3	2			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr19:7812221C>T	uc002mht.2	-	1	144	c.77G>A	c.(76-78)cGa>cAa	p.R26Q	CD209_uc010xju.1_Missense_Mutation_p.R26Q|CD209_uc010dvp.2_Missense_Mutation_p.R26Q|CD209_uc002mhr.2_Missense_Mutation_p.R26Q|CD209_uc002mhs.2_Missense_Mutation_p.R26Q|CD209_uc002mhu.2_Missense_Mutation_p.R26Q|CD209_uc010dvq.2_Missense_Mutation_p.R26Q|CD209_uc002mhq.2_Missense_Mutation_p.R26Q|CD209_uc002mhv.2_Missense_Mutation_p.R26Q|CD209_uc002mhx.2_Intron|CD209_uc002mhw.2_Intron|CD209_uc010dvr.2_Missense_Mutation_p.R26Q	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	26					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCGAGTCTGTCGGAATCCAAG	0.572													230	567					0	0	1	0	0	T	7812221	C	T	7812221	3	4	153	1	0	0	0	0	1	0	0	0	2984	884	31	2	1161	2	CD209	19	7812221	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08		7812221	51316762	63	6901											
ZNF700	90592	broad.mit.edu	37	chr19	12089769	12089769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agaagccttatcaatgtaagGaatgtagaaaagcattcacg	17	9	9	6	1	2	2	2	0	0	2	2	3	2	3	1	1	2	3	1	1	8	4			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr19:12089769G>A	uc010xmf.2	+	3	1216	c.1090G>A	c.(1090-1092)Gaa>Aaa	p.E364K	ZNF700_uc002msv.3_Missense_Mutation_p.E347K|ZNF700_uc002msw.3_Missense_Mutation_p.E344K|ZNF700_uc010xmg.2_Missense_Mutation_p.E222K	NM_001012753	NP_001012771	Q9H0M5	ZN700_HUMAN	Homo sapiens zinc finger protein 763 (ZNF763), mRNA.	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TCAATGTAAGGAATGTAGAAA	0.413													57	119					0	0	1	0	0	A	12089769	G	A	12089769	3	1	153	1	0	0	0	0	1	0	0	0	18101	1175	41	3		3	ZNF700	19	12089769	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	4277548	12089769	47039214	64	6902											
C19orf43	79002	broad.mit.edu	37	chr19	12841862	12841862	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgtacttggcccacgcGtcacctttacttgttaatac	8	13	7	13	2	1	0	1	0	0	0	1	0	1	0	3	1	3	2	3	1	4	7	rs116718949	byFrequency	TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr19:12841862G>A	uc002muu.3	-	2	502	c.444C>T	c.(442-444)gaC>gaT	p.D148D		NM_024038	NP_076943	Q9BQ61	CS043_HUMAN	Homo sapiens chromosome 19 open reading frame 43 (C19orf43), mRNA.	148										endometrium(2)|large_intestine(2)	4						TGGCCCACGCGTCACCTTTAC	0.557													40	88					0	0	1	0	0	A	12841862	G	A	12841862	2	1	153	1	0	0	0	0	0	0	0	1	1926	1136	40	1		1	C19orf43	19	12841862	Silent	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	752093	12841862	46287121	65	6903											
SLC1A6	6511	broad.mit.edu	37	chr19	15063753	15063753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcacaggaaccagtccaCggcaatgatgagcgtgatgt	12	7	11	11	2	1	3	1	3	0	0	2	4	2	4	2	2	2	1	2	2	2	0			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr19:15063753C>T	uc002naa.1	-	7	1493	c.1486G>A	c.(1486-1488)Gtg>Atg	p.V496M	SLC1A6_uc010dzu.1_Missense_Mutation_p.V418M|SLC1A6_uc010xod.1_Missense_Mutation_p.V432M	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	496					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	AACCAGTCCACGGCAATGATG	0.582													71	127					0	0	1	0	0	T	15063753	C	T	15063753	3	4	153	1	0	0	0	0	1	0	0	0	14436	536	19	1	216	1	SLC1A6	19	15063753	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	2221891	15063753	44065230	66	6904											
RYR1	6261	broad.mit.edu	37	chr19	38942436	38942436	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagggccacatggacgaCgcactgtcgctgacccgctg	8	5	14	14	4	0	1	0	1	0	0	1	4	0	3	2	3	0	3	2	3	0	0	rs144658230		TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr19:38942436C>T	uc002oit.3	+	11	1285	c.1155C>T	c.(1153-1155)gaC>gaT	p.D385D	RYR1_uc002oiu.3_Silent_p.D385D	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	385	MIR 5.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACATGGACGACGCACTGTCGC	0.632													45	106					0	0	1	0	0	T	38942436	C	T	38942436	2	4	153	1	0	0	0	0	0	0	0	1	13768	535	19	1		1	RYR1	19	38942436	Silent	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	23878683	38942436	20186547	67	6905											
RSPH6A	81492	broad.mit.edu	37	chr19	46313896	46313896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgttcgccttcagtgcCgcctccactccgggtgaaca	5	10	9	17	3	1	1	1	1	0	0	5	1	4	1	6	1	2	1	6	1	1	2			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr19:46313896C>T	uc002pdm.3	-	1	1024	c.853G>A	c.(853-855)Ggc>Agc	p.G285S	RSPH6A_uc002pdl.3_Missense_Mutation_p.G21S	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	285						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CCTTCAGTGCCGCCTCCACTC	0.627													124	303					0	0	1	0	0	T	46313896	C	T	46313896	3	4	153	1	0	0	0	0	1	0	0	0	13707	652	23	2	1320	2	RSPH6A	19	46313896	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	7371460	46313896	12815087	68	6906											
LILRA4	23547	broad.mit.edu	37	chr19	54849686	54849686	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctgtcaccaccagctccagGgggtcgctgggctctgacca	6	7	12	16	1	2	1	1	1	1	0	4	1	3	1	5	3	1	3	5	3	0	0			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr19:54849686G>A	uc002qfj.3	-	2	393	c.336C>T	c.(334-336)ccC>ccT	p.P112P	LILRA4_uc002qfi.3_Silent_p.P46P	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	112	Ig-like C2-type 1.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CCAGCTCCAGGGGGTCGCTGG	0.617													30	71					0	0	1	0	0	A	54849686	G	A	54849686	2	1	153	1	0	0	0	0	0	0	0	1	8787	1219	43	3		3	LILRA4	19	54849686	Silent	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	8535790	54849686	4279297	69	6907											
TMPRSS15	5651	broad.mit.edu	37	chr21	19716359	19716359	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctccctcctggtccagttGgggtagaaatgtaaaatcct	9	12	10	10	0	1	1	0	0	1	1	5	1	4	1	4	3	0	3	4	3	4	3			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr21:19716359G>T	uc002ykw.3	-	10	1221	c.1190C>A	c.(1189-1191)cCa>cAa	p.P397Q		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	397	MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TGGTCCAGTTGGGGTAGAAAT	0.398													72	73					9.07738e-34	1.02563e-33	1	1	0	T	19716359	G	T	19716359	3	4	153	1	0	0	0	0	1	0	0	0	16243	1348	47	5	1929	5	TMPRSS15	21	19716359	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08		19716359	28413536	70	6908											
CCT8	10694	broad.mit.edu	37	chr21	30440001	30440001	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatatgagaagccattacaAtcatttttgcagcaggatgc	13	11	9	8	0	1	1	1	1	0	1	1	3	1	2	1	1	5	3	1	1	4	4			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr21:30440001A>G	uc002ynb.3	-	3	356	c.257T>C	c.(256-258)aTt>aCt	p.I86T	CCT8_uc011acp.2_Missense_Mutation_p.I67T|CCT8_uc002yna.3_Missense_Mutation_p.I35T|CCT8_uc011acq.2_Missense_Mutation_p.I13T	NM_006585	NP_006576	P50990	TCPQ_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta) (CCT8), mRNA.	86					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						AGCCATTACAATCATTTTTGC	0.368													4	60					0	0	1	0	0	G	30440001	A	G	30440001	3	3	153	1	0	0	0	0	1	0	0	0	2960	101	4	3	1437	3	CCT8	21	30440001	Missense_Mutation	SNP	A	TCGA-FG-A4MU-01B-11D-A289-08	10723642	30440001	17689894	71	6909											
SLC5A4	6527	broad.mit.edu	37	chr22	32643471	32643471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcgctccccaccaaacCgcttcttgagatattccggc	8	9	9	15	3	1	1	0	1	1	1	4	3	3	2	5	2	1	2	5	2	2	4			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr22:32643471C>T	uc003ami.3	-	4	406	c.404G>A	c.(403-405)cGg>cAg	p.R135Q		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA.	135					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	p.R135W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCCACCAAACCGCTTCTTGAG	0.488													20	34					0	0	1	0	0	T	32643471	C	T	32643471	3	4	153	1	0	0	0	0	1	0	0	0	14667	652	23	2	1619	2	SLC5A4	22	32643471	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08		32643471	18661095	72	6910											
MICALL1	85377	broad.mit.edu	37	chr22	38329071	38329071	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagcagaacctggagcagCgccaggctgatgtcgagtat	11	6	14	10	2	0	2	0	1	0	1	1	4	0	3	2	2	5	5	2	2	2	1			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr22:38329071C>T	uc003aui.3	+	12	2535	c.2260C>T	c.(2260-2262)Cgc>Tgc	p.R754C		NM_033386	NP_203744	Q8N3F8	MILK1_HUMAN	Homo sapiens MICAL-like 1 (MICALL1), mRNA.	754						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					CCTGGAGCAGCGCCAGGCTGA	0.612													39	64					0	0	1	0	0	T	38329071	C	T	38329071	3	4	153	1	0	0	0	0	1	0	0	0	9573	768	27	1	2310	1	MICALL1	22	38329071	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	5685600	38329071	12975495	73	6911											
TEX13A	56157	broad.mit.edu	37	chrX	104464686	104464686	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acctccacgaggctggtctgGgccattcttagccgggaggc	6	8	14	13	2	2	0	0	0	2	0	3	2	3	1	4	5	1	1	4	5	1	2			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chrX:104464686G>T	uc004ema.3	-	1	508	c.396C>A	c.(394-396)gcC>gcA	p.A132A	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.3_Silent_p.A132A	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	Homo sapiens testis expressed 13A (TEX13A), mRNA.	132						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GGCTGGTCTGGGCCATTCTTA	0.592													17	0					3.51602e-12	3.68546e-12	1	1	0	T	104464686	G	T	104464686	2	4	153	1	0	0	0	0	0	0	0	1	15773	1219	43	5		5	TEX13A	23	104464686	Silent	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08		104464686	50805874	74	6912											
PLXNA3	55558	broad.mit.edu	37	chrX	153693430	153693430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatgcagcctcttaccttgCgggctaagaacctacctcag	9	10	8	14	1	3	1	2	0	1	1	3	1	3	1	4	1	6	2	4	1	4	4			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chrX:153693430C>T	uc004flm.3	+	10	2286	c.2113C>T	c.(2113-2115)Cgg>Tgg	p.R705W		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	705					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCTTACCTTGCGGGCTAAGAA	0.647													26	0					0	0	1	0	0	T	153693430	C	T	153693430	3	4	153	1	0	0	0	0	1	0	0	0	12121	759	27	1	2151	1	PLXNA3	23	153693430	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	49228744	153693430	1577130	75	6913											
ZBTB40	9923	broad.mit.edu	37	chr1	22852748	22852748	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcaggtgatcactttggaGgagacccagcttgccgggtc	8	8	15	10	1	1	2	1	1	0	1	2	5	1	3	2	4	3	2	2	4	0	2			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr1:22852748G>A	uc001bft.2	+	18	4090	c.3579G>A	c.(3577-3579)gaG>gaA	p.E1193E	ZBTB40_uc001bfu.2_Silent_p.E1193E|ZBTB40_uc009vqi.1_Silent_p.E1081E	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	1193					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TCACTTTGGAGGAGACCCAGC	0.592													15	64					0	0	1	0	0	A	22852748	G	A	22852748	2	1	154	1	0	0	0	0	0	0	0	1	17539	991	35	3		3	ZBTB40	1	22852748	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08		22852748	226397873	1	6914											
PTCH2	8643	broad.mit.edu	37	chr1	45294292	45294292	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtgcgctgcagacactcGcccatgcgctcctgccagga	6	6	11	18	4	0	1	0	0	0	1	2	2	1	2	4	1	4	3	4	1	0	0			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr1:45294292G>A	uc010olf.2	-	11	1488	c.1476C>T	c.(1474-1476)ggC>ggT	p.G492G	PTCH2_uc021omv.1_Silent_p.G492G|PTCH2_uc010olg.2_Silent_p.G190G	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	492	SSD.				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GCAGACACTCGCCCATGCGCT	0.632									Basal Cell Nevus syndrome				5	9					0	0	1	0	0	A	45294292	G	A	45294292	2	1	154	1	0	0	0	0	0	0	0	1	12731	1074	38	1		1	PTCH2	1	45294292	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	22441544	45294292	203956329	2	6915											
PHGDH	26227	broad.mit.edu	37	chr1	120254648	120254648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggccaactccagcaatGgcttttgcaaatctgcggaa	11	8	10	12	2	1	0	0	0	1	0	2	2	2	1	3	3	4	3	3	3	4	2			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr1:120254648G>A	uc001ehz.3	+	0	230	c.3G>A	c.(1-3)atG>atA	p.M1I	PHGDH_uc009whl.3_5'UTR|PHGDH_uc009whm.3_5'UTR	NM_006623	NP_006614	O43175	SERA_HUMAN	Homo sapiens phosphoglycerate dehydrogenase (PHGDH), mRNA.	1					L-serine biosynthetic process|brain development		NAD binding|electron carrier activity|phosphoglycerate dehydrogenase activity	p.M1I(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	CTCCAGCAATGGCTTTTGCAA	0.557													16	38					0	0	1	0	0	A	120254648	G	A	120254648	3	1	154	1	0	0	0	0	1	0	0	0	11841	1348	47	3	5	3	PHGDH	1	120254648	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	74960356	120254648	128995973	3	6916											
LCE2A	353139	broad.mit.edu	37	chr1	152671572	152671572	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcagctctgggggtggCggctgctgcctgagccacca	4	8	16	13	1	1	1	0	1	1	0	1	1	1	1	3	4	6	5	3	4	0	0	rs61812675		TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr1:152671572C>T	uc021oze.1	+	0	195	c.195C>T	c.(193-195)ggC>ggT	p.G65G	LCE2A_uc001faj.3_Silent_p.G65G	NM_178428	NP_848515	Q5TA79	LCE2A_HUMAN	Homo sapiens late cornified envelope 2A (LCE2A), mRNA.	65	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGGGGTGGCGGCTGCTGCC	0.687													50	76					0	0	1	0	0	T	152671572	C	T	152671572	2	4	154	1	0	0	0	0	0	0	0	1	8665	755	27	1		1	LCE2A	1	152671572	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	32416924	152671572	96579049	4	6917											
PEAR1	375033	broad.mit.edu	37	chr1	156884576	156884576	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccatcacctccacttcgaCgccaggaccgttgaggagcc	8	6	9	18	3	1	1	1	1	0	0	3	4	2	3	7	2	1	1	7	2	0	2			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr1:156884576C>T	uc001fqj.1	+	22	3216	c.3100C>T	c.(3100-3102)Cgc>Tgc	p.R1034C	PEAR1_uc001fqk.1_Missense_Mutation_p.R659C	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	1034						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCCACTTCGACGCCAGGACCG	0.612													12	27					0	0	1	0	0	T	156884576	C	T	156884576	3	4	154	1	0	0	0	0	1	0	0	0	11712	536	19	1	3186	1	PEAR1	1	156884576	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	4213004	156884576	92366045	5	6918											
ZC3H11A	9877	broad.mit.edu	37	chr1	203818970	203818971	+	Frame_Shift_Ins	INS	-	-	G																															cacctcttcggggagatgtaINSgcctcttgcaatacccaagt																										TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr1:203818970_203818971insG	uc001hac.3	+	16	2371_2372	c.1755_1756insG	c.(1753-1758)gtagccfs	p.V585fs	ZC3H11A_uc001had.3_Frame_Shift_Ins_p.V585fs|ZC3H11A_uc001hae.3_Frame_Shift_Ins_p.V585fs|ZC3H11A_uc001haf.3_Frame_Shift_Ins_p.V585fs|ZC3H11A_uc010pqm.2_Frame_Shift_Ins_p.V531fs|ZC3H11A_uc001hag.1_Frame_Shift_Ins_p.V585fs	NM_014827	NP_055642	O75152	ZC11A_HUMAN	Homo sapiens zinc finger CCCH-type containing 11A (ZC3H11A), mRNA.	585							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGGGAGATGTAGCCTCTTGCAA	0.5													16	44	---	---	---	---						G	203818971	-	G	203818970	7	5	154	1	0	1	1	0	0	0	0	0	17557	407	15	0	1805	0	ZC3H11A	1	203818970	Frame_Shift_Ins	INS	-	TCGA-FG-A4MW-01A-11D-A26M-08	46934394	203818970	45431651	6	6919											
COLEC11	78989	broad.mit.edu	37	chr2	3691388	3691388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagaagcgctacgcggacGcccagctgtcctgccagggc	8	4	15	14	4	0	1	0	0	0	1	1	3	1	2	3	3	4	2	3	3	2	1			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr2:3691388G>A	uc002qya.3	+	6	644	c.496G>A	c.(496-498)Gcc>Acc	p.A166T	COLEC11_uc002qxz.3_Missense_Mutation_p.A163T|COLEC11_uc002qyb.3_Missense_Mutation_p.A142T|COLEC11_uc002qyc.3_Missense_Mutation_p.A142T|COLEC11_uc010ewo.3_Missense_Mutation_p.A118T|COLEC11_uc010ewp.3_Missense_Mutation_p.A140T|COLEC11_uc010ewq.3_Missense_Mutation_p.A116T|COLEC11_uc010ewr.3_Missense_Mutation_p.A116T|COLEC11_uc010ews.3_Missense_Mutation_p.A92T	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN	Homo sapiens collectin sub-family member 11 (COLEC11), transcript variant 1, mRNA.	166	C-type lectin.					collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CTACGCGGACGCCCAGCTGTC	0.662													20	54					0	0	1	0	0	A	3691388	G	A	3691388	3	1	154	1	0	0	0	0	1	0	0	0	3711	1087	38	1	601	1	COLEC11	2	3691388	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08		3691388	239507985	7	6920											
NLRC4	58484	broad.mit.edu	37	chr2	32461395	32461395	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctcagtttgaccaaattGtgaagattctgagctgggga	11	12	12	6	0	2	4	1	3	1	1	2	5	2	5	1	2	2	3	1	2	2	3			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr2:32461395G>A	uc002roi.3	-	6	2796	c.2535C>T	c.(2533-2535)caC>caT	p.H845H	NLRC4_uc021vfq.1_Silent_p.H845H|NLRC4_uc002roj.2_Silent_p.H845H|NLRC4_uc010ezt.2_Silent_p.H180H	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	845					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGACCAAATTGTGAAGATTCT	0.303													6	11					0	0	1	0	0	A	32461395	G	A	32461395	2	1	154	1	0	0	0	0	0	0	0	1	10469	1368	48	3		3	NLRC4	2	32461395	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	28770007	32461395	210737978	8	6921											
SAP130	79595	broad.mit.edu	37	chr2	128707774	128707776	+	In_Frame_Del	DEL	CAC	CAC	-																															gacttgcgcttctcagccttCaccagaagactcttggcagt																										TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr2:128707774_128707776delCAC	uc010fmd.2	-	16	2839_2841	c.2707_2709delGTG	c.(2707-2709)gtgdel	p.V903del	SAP130_uc002tpn.2_In_Frame_Del_p.V628del|SAP130_uc002tpp.2_In_Frame_Del_p.V868del	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	868	Interactions with SIN3A and HDAC1.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TCTCAGCCTTCACCAGAAGACTC	0.468													34	73	---	---	---	---						-	128707776	CAC	-	128707774	7	5	154	1	0	1	0	1	0	0	0	0	13831	813	29	0	562	0	SAP130	2	128707774	In_Frame_Del	DEL	CAC	TCGA-FG-A4MW-01A-11D-A26M-08	96246379	128707774	114491599	9	6922											
FSIP2	401024	broad.mit.edu	37	chr2	186670853	186670853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggatcagattctgaaatagGctataaaaagaagattgaca	18	10	9	4	0	2	5	1	2	1	3	2	6	2	6	0	2	0	1	0	2	7	5			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr2:186670853G>A	uc002upl.3	+	16	17087	c.17087G>A	c.(17086-17088)gGc>gAc	p.G5696D	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TCTGAAATAGGCTATAAAAAG	0.328													10	27					0	0	1	0	0	A	186670853	G	A	186670853	3	1	154	1	0	0	0	0	1	0	0	0	6075	1203	42	3	17153	3	FSIP2	2	186670853	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	57963079	186670853	56528520	10	6923											
RBMS3	27303	broad.mit.edu	37	chr3	29977603	29977603	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgattacaccaaccatggaCcatcccatgtcaatgcagcc	12	8	7	14	0	1	1	1	1	0	0	2	2	2	2	5	1	4	1	5	1	3	1			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr3:29977603C>T	uc003cel.3	+	10	1336	c.966C>T	c.(964-966)gaC>gaT	p.D322D	RBMS3_uc010hfq.3_Silent_p.D335D|RBMS3_uc003cek.3_Silent_p.D322D|RBMS3_uc010hfr.3_Silent_p.D322D|RBMS3_uc003cem.3_Silent_p.D304D	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA.	322						cytoplasm	RNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				CAACCATGGACCATCCCATGT	0.438													5	16					0	0	1	0	0	T	29977603	C	T	29977603	2	4	154	1	0	0	0	0	0	0	0	1	13150	506	18	3		3	RBMS3	3	29977603	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08		29977603	168044827	11	6924											
FLNB	2317	broad.mit.edu	37	chr3	58080624	58080624	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcactgtggacaccatcagCgccgggcaaggagacgtgat	10	7	13	11	3	2	2	2	1	0	1	2	4	2	3	2	3	1	1	2	3	1	1			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr3:58080624C>T	uc003djj.2	+	4	1014	c.849C>T	c.(847-849)agC>agT	p.S283S	FLNB_uc010hne.2_Silent_p.S283S|FLNB_uc003djk.2_Silent_p.S283S|FLNB_uc010hnf.2_Silent_p.S283S|FLNB_uc003djl.2_Silent_p.S114S|FLNB_uc003djm.2_Silent_p.S114S	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	283					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACACCATCAGCGCCGGGCAAG	0.542													41	100					0	0	1	0	0	T	58080624	C	T	58080624	2	4	154	1	0	0	0	0	0	0	0	1	5934	767	27	1		1	FLNB	3	58080624	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	28103021	58080624	139941806	12	6925											
AADACL2	344752	broad.mit.edu	37	chr3	151475059	151475062	+	Frame_Shift_Del	DEL	TATG	TATG	-																															ctgagaagtatagaaaagacTatgtatatactgaaccaatt																										TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr3:151475059_151475062delTATG	uc003ezc.3	+	4	1003_1006	c.883_886delTATG	c.(883-888)tatgtafs	p.Y295fs	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_Frame_Shift_Del_p.Y82fs	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	295						extracellular region|integral to membrane	carboxylesterase activity	p.A295V(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TAGAAAAGACTATGTATATACTGA	0.397													16	38	---	---	---	---						-	151475062	TATG	-	151475059	7	5	154	1	0	1	0	1	0	0	0	0	11	1522	53	0	901	0	AADACL2	3	151475059	Frame_Shift_Del	DEL	TATG	TCGA-FG-A4MW-01A-11D-A26M-08	93394435	151475059	46547371	13	6926											
SLITRK3	22865	broad.mit.edu	37	chr3	164907844	164907844	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggggtctcacaggtaaTgtctcccaccagggcagtat	11	8	12	10	0	2	0	1	0	2	0	4	1	2	0	2	4	0	3	2	4	3	2			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr3:164907844T>C	uc003fej.4	-	1	1219	c.775A>G	c.(775-777)Att>Gtt	p.I259V	SLITRK3_uc003fek.3_Missense_Mutation_p.I259V|SLITRK3_uc021xgy.1_Missense_Mutation_p.I259V	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	259	LRRCT 1.					integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCACAGGTAATGTCTCCCACC	0.488										HNSCC(40;0.11)			5	86					0	0	1	0	0	C	164907844	T	C	164907844	3	2	154	1	0	0	0	0	1	0	0	0	14744	1464	51	3	2162	3	SLITRK3	3	164907844	Missense_Mutation	SNP	T	TCGA-FG-A4MW-01A-11D-A26M-08	13432785	164907844	33114586	14	6927											
WFS1	7466	broad.mit.edu	37	chr4	6304060	6304060	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcgagctcaaggccatcagCtgcctcaactgcatggccca	9	8	9	15	1	3	0	3	0	0	0	4	1	3	0	3	2	5	3	3	2	2	1			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr4:6304060C>T	uc003giy.3	+	7	2704	c.2538C>T	c.(2536-2538)agC>agT	p.S846S	WFS1_uc003gix.3_Silent_p.S846S|WFS1_uc003giz.3_Silent_p.S664S	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	846					ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		AGGCCATCAGCTGCCTCAACT	0.652													17	35					0	0	1	0	0	T	6304060	C	T	6304060	2	4	154	1	0	0	0	0	0	0	0	1	17357	796	28	3		3	WFS1	4	6304060	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08		6304060	184850216	15	6928											
ENPEP	2028	broad.mit.edu	37	chr4	111398156	111398156	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggagttcgccggctggCtgaacggctccctcgtggga	5	8	15	13	4	0	1	0	1	0	0	3	3	1	3	3	5	1	4	3	5	1	1	rs112068198	byFrequency	TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr4:111398156C>A	uc003iab.4	+	0	928	c.586C>A	c.(586-588)Ctg>Atg	p.L196M		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	196					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)	CGCCGGCTGGCTGAACGGCTC	0.502													20	50					7.45023e-12	7.76726e-12	1	1	0	A	111398156	C	A	111398156	3	1	154	1	0	0	0	0	1	0	0	0	5128	796	28	5	588	5	ENPEP	4	111398156	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	105094096	111398156	79756120	16	6929											
HHIP	64399	broad.mit.edu	37	chr4	145579961	145579961	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtttccttcaaacaactgcGgatgagttttgcttttacta	9	16	8	8	1	1	1	1	1	0	0	2	2	2	2	1	2	5	3	1	2	4	7	rs146735069		TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr4:145579961G>A	uc003ijs.2	+	2	1172	c.492G>A	c.(490-492)gcG>gcA	p.A164A	HHIP_uc003ijr.2_Silent_p.A164A	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	164						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		AAACAACTGCGGATGAGTTTT	0.358													10	35					0	0	1	0	0	A	145579961	G	A	145579961	2	1	154	1	0	0	0	0	0	0	0	1	7092	1103	39	2		2	HHIP	4	145579961	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	34181805	145579961	45574315	17	6930											
ACSL1	2180	broad.mit.edu	37	chr4	185678385	185678385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagaaggccattgtcgataGaaaataattcagggtgcaat	15	10	10	6	1	2	2	2	0	0	2	3	3	2	2	1	2	1	1	1	2	6	4			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr4:185678385G>A	uc003iww.2	-	20	2285	c.1991C>T	c.(1990-1992)tCt>tTt	p.S664F	ACSL1_uc011ckm.1_Missense_Mutation_p.S493F|ACSL1_uc003iwt.1_Missense_Mutation_p.S664F|ACSL1_uc003iwu.1_Missense_Mutation_p.S664F|ACSL1_uc011ckn.1_Missense_Mutation_p.S630F|ACSL1_uc003iws.1_Missense_Mutation_p.S224F	NM_001995	NP_001986	P33121	ACSL1_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 1 (ACSL1), mRNA.	664					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ATTGTCGATAGAAAATAATTC	0.453													17	23					0	0	1	0	0	A	185678385	G	A	185678385	3	1	154	1	0	0	0	0	1	0	0	0	177	942	33	3	109	3	ACSL1	4	185678385	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	40098424	185678385	5475891	18	6931											
C6	729	broad.mit.edu	37	chr5	41149449	41149449	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccattctaactggcggccGtcttggcaggaaccaatatg	9	9	10	13	2	2	0	0	0	2	0	2	1	2	1	4	4	2	1	4	4	4	4			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr5:41149449G>A	uc003jmk.2	-	16	2727	c.2517C>T	c.(2515-2517)gaC>gaT	p.D839D	C6_uc003jml.1_Silent_p.D839D	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	839	C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACTGGCGGCCGTCTTGGCAGG	0.418													35	69					0	0	1	0	0	A	41149449	G	A	41149449	2	1	154	1	0	0	0	0	0	0	0	1	2315	1136	40	1		1	C6	5	41149449	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08		41149449	139765811	19	6932											
HAPLN1	1404	broad.mit.edu	37	chr5	82937339	82937339	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtatgctctgaagcagtaGacaccatacagcttatgctt	11	13	8	9	0	1	2	0	1	1	1	1	2	1	2	1	0	5	6	1	0	5	6			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr5:82937339G>A	uc003kim.3	-	3	1112	c.1041C>T	c.(1039-1041)gtC>gtT	p.V347V	HAPLN1_uc003kin.3_Silent_p.V347V	NM_001884	NP_001875	P10915	HPLN1_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA.	347	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		TGAAGCAGTAGACACCATACA	0.453													13	97					0	0	1	0	0	A	82937339	G	A	82937339	2	1	154	1	0	0	0	0	0	0	0	1	6954	929	33	3		3	HAPLN1	5	82937339	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	41787890	82937339	97977921	20	6933											
GRIA1	2890	broad.mit.edu	37	chr5	153078545	153078545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgtgggctactcctaccGtctggagattgtcagtgatg	7	11	13	10	2	2	2	1	1	1	1	3	3	3	2	2	2	2	2	2	2	2	3			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr5:153078545G>A	uc011dcy.2	+	9	1421	c.1394G>A	c.(1393-1395)cGt>cAt	p.R465H	GRIA1_uc003lva.4_Missense_Mutation_p.R455H|GRIA1_uc003luy.4_Missense_Mutation_p.R455H|GRIA1_uc003luz.4_Missense_Mutation_p.R360H|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.R375H|GRIA1_uc011dcx.2_Missense_Mutation_p.R386H|GRIA1_uc011dcz.2_Missense_Mutation_p.R465H|GRIA1_uc010jia.1_Missense_Mutation_p.R435H	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	455					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.R455H(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TACTCCTACCGTCTGGAGATT	0.542													12	29					0	0	1	0	0	A	153078545	G	A	153078545	3	1	154	1	0	0	0	0	1	0	0	0	6767	1145	40	1	1402	1	GRIA1	5	153078545	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	70141206	153078545	27836715	21	6934											
HLA-DPB1	3115	broad.mit.edu	37	chr6	33052887	33052887	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcgtgtccaccaacctgatCcgtaatggagactggacctt	9	10	10	12	2	0	2	0	1	0	1	3	4	2	3	5	2	1	1	5	2	2	2			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr6:33052887C>A	uc003ocu.2	+	2	641	c.525C>A	c.(523-525)atC>atA	p.I175I	HLA-DPB1_uc011dqo.2_Non-coding_Transcript|HLA-DPB1_uc011dqq.1_Silent_p.I71I	NM_002121	NP_002112	P04440	DPB1_HUMAN	Homo sapiens major histocompatibility complex, class II, DP beta 1 (HLA-DPB1), mRNA.	175	Beta-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						CCAACCTGATCCGTAATGGAG	0.552													24	64					4.72057e-08	4.81892e-08	1	1	0	A	33052887	C	A	33052887	2	1	154	1	0	0	0	0	0	0	0	1	7203	845	30	5		5	HLA-DPB1	6	33052887	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08		33052887	138062180	22	6935											
TIAM2	26230	broad.mit.edu	37	chr6	155450785	155450785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttctcaactgctacgggaGgaatgagagcattgcctcca	10	9	10	12	1	1	1	1	1	1	1	3	4	2	3	3	2	5	2	3	2	3	3			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr6:155450785G>A	uc003qqb.3	+	5	1701	c.428G>A	c.(427-429)aGg>aAg	p.R143K	TIAM2_uc003qqe.3_Missense_Mutation_p.R143K	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	143					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGCTACGGGAGGAATGAGAGC	0.567													14	25					0	0	1	0	0	A	155450785	G	A	155450785	3	1	154	1	0	0	0	0	1	0	0	0	15888	1000	35	3	430	3	TIAM2	6	155450785	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	122397898	155450785	15664282	23	6936											
CARD11	84433	broad.mit.edu	37	chr7	2983911	2983911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcactgagctgtgcgtagcGcatggctaagttgtagttgt	7	13	13	8	2	1	1	1	1	0	0	1	1	1	1	0	1	3	7	0	1	3	5			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr7:2983911G>A	uc003smv.3	-	4	953	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	207					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGTGCGTAGCGCATGGCTAAG	0.567			Mis		DLBCL								17	87					0	0	1	0	0	A	2983911	G	A	2983911	3	1	154	1	0	0	0	0	1	0	0	0	2645	1087	38	1	2929	1	CARD11	7	2983911	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08		2983911	156154752	24	6937											
EGFR	1956	broad.mit.edu	37	chr7	55223567	55223567	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcgtgcgtccgagcctgtGgggccgacagctatgagatg	6	8	16	11	4	0	1	0	1	0	1	2	4	1	1	3	2	3	2	3	2	1	1			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr7:55223567G>T	uc003tqk.3	+	7	1180	c.934G>T	c.(934-936)Ggg>Tgg	p.G312W	EGFR_uc003tqh.3_Missense_Mutation_p.G312W|EGFR_uc003tqi.3_Missense_Mutation_p.G312W|EGFR_uc003tqj.3_Missense_Mutation_p.G312W|EGFR_uc022adm.1_Missense_Mutation_p.G312W|EGFR_uc010kzg.2_Missense_Mutation_p.G267W|EGFR_uc022adn.1_Missense_Mutation_p.G267W|EGFR_uc011kco.2_Missense_Mutation_p.G259W|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	312					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.C311S(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCGAGCCTGTGGGGCCGACAG	0.607		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			3323	325					0	0	1	1	0	T	55223567	G	T	55223567	3	4	154	1	0	0	0	0	1	0	0	0	4967	1348	47	5	964	5	EGFR	7	55223567	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	52239656	55223567	103915096	25	6938											
CDK14	5218	broad.mit.edu	37	chr7	90377064	90377064	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactaggggaaggatcttaTgctacagtatacaaagggaa	17	8	11	5	0	1	0	0	0	1	0	1	3	1	3	0	4	4	2	0	4	9	5			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr7:90377064T>C	uc003uky.2	+	3	660	c.438T>C	c.(436-438)taT>taC	p.Y146Y	CDK14_uc003ukt.1_Silent_p.Y100Y|CDK14_uc003ukv.1_Silent_p.Y100Y|CDK14_uc003uku.1_Silent_p.Y100Y|CDK14_uc003ukx.1_Intron|CDK14_uc003ukz.1_Silent_p.Y128Y|CDK14_uc010les.1_Silent_p.Y100Y|CDK14_uc011khl.1_Intron	NM_012395	NP_036527	O94921	CDK14_HUMAN	Homo sapiens cyclin-dependent kinase 14 (CDK14), mRNA.	146	Protein kinase.				G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|regulation of canonical Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						AAGGATCTTATGCTACAGTAT	0.338													17	58					0	0	1	0	0	C	90377064	T	C	90377064	2	2	154	1	0	0	0	0	0	0	0	1	3130	1471	51	3		3	CDK14	7	90377064	Silent	SNP	T	TCGA-FG-A4MW-01A-11D-A26M-08	35153497	90377064	68761599	26	6939											
CTTNBP2	83992	broad.mit.edu	37	chr7	117424371	117424371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcacaggagtaattaatgtCcagtccttcttcattaagca	12	14	6	9	0	3	0	2	0	1	0	5	1	5	1	2	1	1	2	2	1	3	6			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr7:117424371C>T	uc003vjf.3	-	4	2298	c.2206G>A	c.(2206-2208)Gac>Aac	p.D736N		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	736										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TAATTAATGTCCAGTCCTTCT	0.478													31	105					0	0	1	0	0	T	117424371	C	T	117424371	3	4	154	1	0	0	0	0	1	0	0	0	4045	855	30	3	2861	3	CTTNBP2	7	117424371	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	27047307	117424371	41714292	27	6940											
TRPV5	56302	broad.mit.edu	37	chr7	142627452	142627452	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccagatcccacctctttgtCgaacgtcacaggtgcagtcc	8	10	8	15	2	2	1	1	0	1	1	6	2	5	1	4	1	2	1	4	1	1	1			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr7:142627452C>T	uc003wby.1	-	1	482	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	TRPV5_uc003wbz.3_Missense_Mutation_p.R73Q	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	73					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACCTCTTTGTCGAACGTCACA	0.512													23	56					0	0	1	0	0	T	142627452	C	T	142627452	3	4	154	1	0	0	0	0	1	0	0	0	16596	884	31	2	2027	2	TRPV5	7	142627452	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	25203081	142627452	16511211	28	6941											
ADAM28	10863	broad.mit.edu	37	chr8	24207446	24207446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggttgctatggtaatccGgcaccagagctccagagaaa	11	8	13	9	1	0	2	0	0	0	2	2	3	2	2	3	4	2	5	3	4	3	3			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr8:24207446G>A	uc003xdy.3	+	18	2143	c.2060G>A	c.(2059-2061)cGg>cAg	p.R687Q	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.R374Q	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	687					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATGGTAATCCGGCACCAGAGC	0.478													23	48					0	0	1	0	0	A	24207446	G	A	24207446	3	1	154	1	0	0	0	0	1	0	0	0	246	1116	39	2	2190	2	ADAM28	8	24207446	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08		24207446	122156576	29	6942											
MAK16	84549	broad.mit.edu	37	chr8	33356082	33356082	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggaccactgcagagaaaaCgagcctatgtggaaatagaa	17	5	12	7	1	0	2	0	0	0	2	0	7	0	4	2	2	3	1	2	2	6	2			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr8:33356082C>A	uc003xjj.3	+	9	878	c.838C>A	c.(838-840)Cga>Aga	p.R280R	TTI2_uc010lvu.1_Intron	NM_032509	NP_115898	Q9BXY0	MAK16_HUMAN	Homo sapiens MAK16 homolog (S. cerevisiae) (MAK16), mRNA.	280						nucleolus				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						GCAGAGAAAACGAGCCTATGT	0.483													17	56					1.99824e-07	1.99824e-07	1	1	0	A	33356082	C	A	33356082	2	1	154	1	0	0	0	0	0	0	0	1	9198	528	19	5		5	MAK16	8	33356082	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	9148636	33356082	113007940	30	6943											
VLDLR	7436	broad.mit.edu	37	chr9	2648302	2648302	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcgtaggatagtactaaaGtctctggagttcctagctca	11	12	10	8	1	2	0	1	0	1	0	5	3	3	2	1	2	2	4	1	2	6	6			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr9:2648302G>A	uc003zhk.1	+	12	2314	c.1917G>A	c.(1915-1917)aaG>aaA	p.K639K	VLDLR_uc003zhl.1_Silent_p.K639K|VLDLR_uc003zhm.1_Non-coding_Transcript	NM_003383	NP_003374	P98155	VLDLR_HUMAN	Homo sapiens very low density lipoprotein receptor (VLDLR), transcript variant 1, mRNA.	639					cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TAGTACTAAAGTCTCTGGAGT	0.408													3	30					0	0	1	0	0	A	2648302	G	A	2648302	2	1	154	1	0	0	0	0	0	0	0	1	17171	1020	36	3		3	VLDLR	9	2648302	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08		2648302	138565129	31	6944											
PRUNE2	158471	broad.mit.edu	37	chr9	79318755	79318758	+	Frame_Shift_Del	DEL	CTAA	CTAA	-																															acatgtgtctgggaagcttgCtaactgagttccctgcagcc																										TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr9:79318755_79318758delCTAA	uc010mpk.3	-	8	7895_7898	c.7771_7774delTTAG	c.(7771-7776)ttagcafs	p.L2591fs	PRUNE2_uc004akj.4_Frame_Shift_Del_p.L44fs|PRUNE2_uc022big.1_Non-coding_Transcript|PRUNE2_uc010mpl.1_Frame_Shift_Del_p.L44fs|PRUNE2_uc022bih.1_Frame_Shift_Del_p.L2413fs	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2591					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGGAAGCTTGCTAACTGAGTTCCC	0.417													14	44	---	---	---	---						-	79318758	CTAA	-	79318755	7	5	154	1	0	1	0	1	0	0	0	0	12641	797	28	0	1536	0	PRUNE2	9	79318755	Frame_Shift_Del	DEL	CTAA	TCGA-FG-A4MW-01A-11D-A26M-08	76670453	79318755	61894676	32	6945											
ASPN	54829	broad.mit.edu	37	chr9	95228797	95228797	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccttcgcaacttctttgtGgttagaaaggcttttgggtg	7	15	12	7	1	1	1	0	0	1	1	2	1	1	1	1	3	2	3	1	3	3	6			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr9:95228797G>A	uc004ase.2	-	3	744	c.444C>T	c.(442-444)acC>acT	p.T148T	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ASPN_uc010mqy.2_Silent_p.T148T	NM_017680	NP_060150	Q9BXN1	ASPN_HUMAN	Homo sapiens asporin (ASPN), transcript variant 1, mRNA.	148					bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						ACTTCTTTGTGGTTAGAAAGG	0.373													34	52					0	0	1	0	0	A	95228797	G	A	95228797	2	1	154	1	0	0	0	0	0	0	0	1	1057	1335	47	3		3	ASPN	9	95228797	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	15910042	95228797	45984634	33	6946											
ENG	2022	broad.mit.edu	37	chr9	130587089	130587089	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtgctcaccgcagctggaGgcatgaagtgagacaatgct	10	7	15	9	1	1	2	1	2	0	1	1	4	1	3	1	3	3	5	1	3	2	0			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr9:130587089G>A	uc004bsj.4	-	6	1394	c.981C>T	c.(979-981)gcC>gcT	p.A327A	ENG_uc011mam.2_Silent_p.A138A|ENG_uc004bsk.4_Silent_p.A327A	NM_001114753	NP_001108225	P17813	EGLN_HUMAN	Homo sapiens endoglin (ENG), transcript variant 1, mRNA.	327					BMP signaling pathway|artery morphogenesis|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						CGCAGCTGGAGGCATGAAGTG	0.617									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				9	8					0	0	1	0	0	A	130587089	G	A	130587089	2	1	154	1	0	0	0	0	0	0	0	1	5117	987	35	3		3	ENG	9	130587089	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	35358292	130587089	10626342	34	6947											
OPN4	94233	broad.mit.edu	37	chr10	88418318	88418318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacggccatcgccctggacCgctacctggtaatcacacgc	8	7	10	16	4	1	1	1	1	0	0	2	2	1	2	4	3	1	2	4	3	2	2	rs143641898	byFrequency	TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr10:88418318C>T	uc010qmk.1	+	4	762	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C	OPN4_uc001kdp.3_Missense_Mutation_p.R179C|OPN4_uc001kdq.3_Missense_Mutation_p.R168C|OPN4_uc009xsx.1_5'Flank	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.	168					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CGCCCTGGACCGCTACCTGGT	0.617													20	19					0	0	1	0	0	T	88418318	C	T	88418318	3	4	154	1	0	0	0	0	1	0	0	0	10882	652	23	2	553	2	OPN4	10	88418318	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08		88418318	47116429	35	6948											
PTEN	5728	broad.mit.edu	37	chr10	89624256	89624256	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcatcaaagagatcgttagCagaaacaaaaggagatatca	20	7	8	6	1	3	3	3	0	0	3	4	5	3	3	0	1	2	2	0	1	6	2			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr10:89624256C>G	uc001kfb.3	+	0	1062	c.30C>G	c.(28-30)agC>agG	p.S10R	PTEN_uc021pvw.1_Non-coding_Transcript|KLLN_uc009xti.3_5'Flank	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	10			S -> N (retains phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains the ability to bind phospholipid membranes).		T cell receptor signaling pathway|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 G1/S transition of mitotic cell cycle|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 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	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion 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.0?(37)|p.?(13)|p.S10N(2)|p.I8_R14>LRLICIF(2)|p.A3fs*14(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)		AGATCGTTAGCAGAAACAAAA	0.478		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)			24	21					0	0	1	0	0	G	89624256	C	G	89624256	3	3	154	1	0	0	0	0	1	0	0	0	12738	709	25	5	32	5	PTEN	10	89624256	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	1205938	89624256	45910491	36	6949											
SYT9	143425	broad.mit.edu	37	chr11	7324401	7324401	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctgccctctggtagcaaaGacaacaaccaggagcccctt	11	6	9	15	0	1	1	0	0	1	1	1	2	1	2	5	2	5	2	5	2	4	2			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr11:7324401G>C	uc001mfe.3	+	1	514	c.277G>C	c.(277-279)Gac>Cac	p.D93H	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	93						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TGGTAGCAAAGACAACAACCA	0.562													33	72					0	0	1	0	0	C	7324401	G	C	7324401	3	2	154	1	0	0	0	0	1	0	0	0	15478	942	33	5	283	5	SYT9	11	7324401	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08		7324401	127682115	37	6950											
OR4A16	81327	broad.mit.edu	37	chr11	55110940	55110940	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacttactctgtgataaaatCgctatttccttgtcagcttg	9	16	7	9	1	2	1	1	1	1	0	4	2	3	1	1	0	2	2	1	0	4	6			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr11:55110940C>T	uc010rie.2	+	0	264	c.264C>T	c.(262-264)atC>atT	p.I88I		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GTGATAAAATCGCTATTTCCT	0.438													45	76					0	0	1	0	0	T	55110940	C	T	55110940	2	4	154	1	0	0	0	0	0	0	0	1	11041	874	31	2		2	OR4A16	11	55110940	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	47786539	55110940	79895576	38	6951											
SLC22A25	387601	broad.mit.edu	37	chr11	62997040	62997040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttgatggtatactatgaCgttgaacattataaggaaaa	16	13	9	3	1	0	3	0	3	0	0	0	4	0	4	0	2	2	3	0	2	8	7			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr11:62997040C>T	uc001nwr.1	-	0	85	c.85G>A	c.(85-87)Gtc>Atc	p.V29I	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_Missense_Mutation_p.V29I	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	29					transmembrane transport	integral to membrane		p.N28N(2)		NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						TATACTATGACGTTGAACATT	0.458													13	30					0	0	1	0	0	T	62997040	C	T	62997040	3	4	154	1	0	0	0	0	1	0	0	0	14454	536	19	1	1594	1	SLC22A25	11	62997040	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	7886100	62997040	72009476	39	6952											
CCDC87	55231	broad.mit.edu	37	chr11	66358631	66358633	+	In_Frame_Del	DEL	TCT	TCT	-																															ccacaatctccacaggaaccTcttcttcatgcatttgaaag																										TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr11:66358631_66358633delTCT	uc001oiq.4	-	0	1922_1924	c.1854_1856delAGA	c.(1852-1857)gaagag>gag	p.618_619EE>E	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	618										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CACAGGAACCTCTTCTTCATGCA	0.473													21	60	---	---	---	---						-	66358633	TCT	-	66358631	7	5	154	1	0	1	0	1	0	0	0	0	2862	1551	54	0	697	0	CCDC87	11	66358631	In_Frame_Del	DEL	TCT	TCGA-FG-A4MW-01A-11D-A26M-08	3361591	66358631	68647885	40	6953											
ADAMTS15	170689	broad.mit.edu	37	chr11	130343421	130343421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgggggccgtgctccgCgagctgcggcagtggcctgc	3	6	18	14	4	0	0	0	0	0	0	1	1	1	0	3	4	5	4	3	4	0	0			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr11:130343421C>T	uc010scd.2	+	7	2558	c.2558C>T	c.(2557-2559)gCg>gTg	p.A853V		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	853	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCGTGCTCCGCGAGCTGCGGC	0.726													17	38					0	0	1	0	0	T	130343421	C	T	130343421	3	4	154	1	0	0	0	0	1	0	0	0	260	768	27	1	2588	1	ADAMTS15	11	130343421	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	63984790	130343421	4663095	41	6954											
C12orf51	283450	broad.mit.edu	37	chr12	112647838	112647838	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgttgctgagcggtggccacGgcagcaatccggcatggtgg	6	7	17	11	4	0	1	0	1	0	0	1	1	1	1	2	6	3	5	2	6	1	1			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr12:112647838G>A	uc021reb.1	-	49	7842	c.7446C>T	c.(7444-7446)gcC>gcT	p.A2482A	C12orf51_uc001ttr.1_Silent_p.A369A	NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CGGTGGCCACGGCAGCAATCC	0.537													7	19					0	0	1	0	0	A	112647838	G	A	112647838	2	1	154	1	0	0	0	0	0	0	0	1	1696	1103	39	2		2	C12orf51	12	112647838	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08		112647838	21204057	42	6955											
NFKBIA	4792	broad.mit.edu	37	chr14	35872895	35872895	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgggccaggcaagcggcgcaCctgctgcaggttgttctgga	6	7	16	12	3	1	0	0	0	1	0	1	1	1	1	2	5	3	6	2	5	1	2			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr14:35872895C>T	uc001wtf.4	-	2	446	c.336_splice	c.e2+1	p.Q112_splice		NM_020529	NP_065390	P25963	IKBA_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha (NFKBIA), mRNA.	112					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of NF-kappaB transcription factor activity|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of transcription from RNA polymerase II promoter|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	I-kappaB/NF-kappaB complex|cytosol|nucleus|plasma membrane	NF-kappaB binding|identical protein binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		AAGCGGCGCACCTGCTGCAGG	0.567													4	7					0	0	1	0	0	T	35872895	C	T	35872895	5	4	154	1	0	0	0	0	0	0	1	0	10377	521	18	3	636	3	NFKBIA	14	35872895	Splice_Site	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08		35872895	71476645	43	6956											
SLC8A3	6547	broad.mit.edu	37	chr14	70515655	70515655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtactctgtggggggcaCacaggcaaacagcaccttcc	10	6	12	13	0	1	0	0	0	1	0	2	0	2	0	2	4	3	5	2	4	2	2			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr14:70515655C>T	uc001xly.3	-	6	2990	c.2236G>A	c.(2236-2238)Gtg>Atg	p.V746M	SLC8A3_uc001xlv.3_Missense_Mutation_p.V117M|SLC8A3_uc001xlu.3_Missense_Mutation_p.V103M|SLC8A3_uc001xlw.3_Missense_Mutation_p.V743M|SLC8A3_uc001xlx.3_Missense_Mutation_p.V744M|SLC8A3_uc001xlz.3_Missense_Mutation_p.V740M|SLC8A3_uc010ara.3_Non-coding_Transcript|SLC8A3_uc001xma.2_Missense_Mutation_p.V103M	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	746					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GTGGGGGGCACACAGGCAAAC	0.592													8	26					0	0	1	0	0	T	70515655	C	T	70515655	3	4	154	1	0	0	0	0	1	0	0	0	14708	478	17	3	555	3	SLC8A3	14	70515655	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	34642760	70515655	36833885	44	6957											
GOLGA5	9950	broad.mit.edu	37	chr14	93276685	93276685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcatgaagcggatgccaCtctgaagagagagcaggaga	14	5	14	8	1	1	5	0	2	1	3	1	8	1	6	1	2	4	2	1	2	2	0			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr14:93276685C>T	uc001yaz.1	+	4	1261	c.1079C>T	c.(1078-1080)aCt>aTt	p.T360I		NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Homo sapiens golgin A5 (GOLGA5), mRNA.	360					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|Rab GTPase binding|protein homodimerization activity|protein tyrosine kinase activity			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		GCGGATGCCACTCTGAAGAGA	0.433			T	RET	papillary thyroid								10	18					0	0	1	0	0	T	93276685	C	T	93276685	3	4	154	1	0	0	0	0	1	0	0	0	6556	565	20	3	1093	3	GOLGA5	14	93276685	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	22761030	93276685	14072855	45	6958											
SERPINA3	12	broad.mit.edu	37	chr14	95090030	95090030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcaaaatcaccctcctttCtgcattagtggagacaagga	13	10	8	10	0	3	1	2	0	1	1	4	3	4	2	2	2	1	1	2	2	4	2			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr14:95090030C>T	uc001ydp.3	+	4	1310	c.1151C>T	c.(1150-1152)tCt>tTt	p.S384F	SERPINA3_uc001ydo.4_Missense_Mutation_p.S409F|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Non-coding_Transcript|SERPINA3_uc010avg.3_Missense_Mutation_p.S384F|SERPINA3_uc001yds.3_Missense_Mutation_p.S384F	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	384	RCL.	Reactive bond.			acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ACCCTCCTTTCTGCATTAGTG	0.498													33	54					0	0	1	0	0	T	95090030	C	T	95090030	3	4	154	1	0	0	0	0	1	0	0	0	14090	913	32	3	1165	3	SERPINA3	14	95090030	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	1813345	95090030	12259510	46	6959											
MYO5C	55930	broad.mit.edu	37	chr15	52534268	52534268	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgatacctcctccttgccaGgaatcctcggctgtaggcct	6	11	9	15	2	0	0	0	0	0	0	5	2	3	1	6	3	2	2	6	3	3	3			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr15:52534268G>A	uc010bff.3	-	19	2695	c.2533C>T	c.(2533-2535)Ctg>Ttg	p.L845L	MYO5C_uc010uga.2_Intron|MYO5C_uc010ugb.2_Intron	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	845	IQ 4.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CTCCTTGCCAGGAATCCTCGG	0.537													53	44					0	0	1	0	0	A	52534268	G	A	52534268	2	1	154	1	0	0	0	0	0	0	0	1	10080	991	35	3		3	MYO5C	15	52534268	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08		52534268	49997124	47	6960											
TLN2	83660	broad.mit.edu	37	chr15	63032969	63032969	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcctggctgcagctgcaagGtaggagtgggacacaatgtg	9	8	15	9	0	0	0	0	0	0	0	1	2	1	2	1	4	3	5	1	4	3	1			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr15:63032969G>A	uc002alb.4	+	29	4025	c.4025_splice	c.e29+1	p.R1342_splice	TLN2_uc002alc.4_Splice_Site	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	1342					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CAGCTGCAAGGTAGGAGTGGG	0.493													11	11					0	0	1	0	0	A	63032969	G	A	63032969	5	1	154	1	0	0	0	0	0	0	1	0	15945	1275	44	3	4140	3	TLN2	15	63032969	Splice_Site	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	10498701	63032969	39498423	48	6961											
STOML1	9399	broad.mit.edu	37	chr15	74281475	74281475	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagggacgttgaaggctcGtgtcctcagatccaccctct	7	9	13	12	2	2	2	1	1	1	1	5	4	4	4	3	3	0	2	3	3	1	1			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr15:74281475G>A	uc002awe.3	-	2	435	c.364C>T	c.(364-366)Cga>Tga	p.R122*	STOML1_uc002awf.3_Nonsense_Mutation_p.R122*|STOML1_uc010bje.3_Nonsense_Mutation_p.R122*|STOML1_uc010uld.2_Nonsense_Mutation_p.R80*|STOML1_uc002awh.3_Intron|STOML1_uc002awg.3_Intron	NM_004809	NP_004800	Q9UBI4	STML1_HUMAN	Homo sapiens stomatin (EPB72)-like 1 (STOML1), mRNA.	122						integral to membrane	sterol binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TTGAAGGCTCGTGTCCTCAGA	0.602													3	22					0	0	1	0	0	A	74281475	G	A	74281475	4	1	154	1	0	0	0	0	0	1	0	0	15312	1153	40	1	852	1	STOML1	15	74281475	Nonsense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	11248506	74281475	28249917	49	6962											
NTN3	4917	broad.mit.edu	37	chr16	2522817	2522817	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggcacaacaccgccggccgCcactgccactactgccggga	8	3	11	19	5	0	0	0	0	0	0	0	1	0	1	6	3	4	1	6	3	2	1			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:2522817C>T	uc002cqj.3	+	1	1247	c.1044C>T	c.(1042-1044)cgC>cgT	p.R348R	TBC1D24_uc002cql.3_5'Flank|TBC1D24_uc002cqk.3_5'Flank	NM_006181	NP_006172	O00634	NET3_HUMAN	Homo sapiens netrin 3 (NTN3), mRNA.	348	Laminin EGF-like 2.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						CCGCCGGCCGCCACTGCCACT	0.701													17	11					0	0	1	0	0	T	2522817	C	T	2522817	2	4	154	1	0	0	0	0	0	0	0	1	10701	726	26	3		3	NTN3	16	2522817	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08		2522817	87831936	50	6963											
ATF7IP2	80063	broad.mit.edu	37	chr16	10574741	10574741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgtgttgttcacagaaagtCcagtatcccccctggagtca	9	12	9	11	0	2	1	2	0	0	1	4	2	4	2	4	1	0	3	4	1	2	4			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:10574741C>T	uc002czw.3	+	9	1714	c.1555C>T	c.(1555-1557)Cca>Tca	p.P519S	ATF7IP2_uc010uyp.2_Missense_Mutation_p.P63S|ATF7IP2_uc002czu.3_Missense_Mutation_p.P519S|ATF7IP2_uc002czv.3_Silent_p.V496V|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						CACAGAAAGTCCAGTATCCCC	0.388													19	48					0	0	1	0	0	T	10574741	C	T	10574741	3	4	154	1	0	0	0	0	1	0	0	0	1088	855	30	3	1589	3	ATF7IP2	16	10574741	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	8051924	10574741	79780012	51	6964											
CDH8	1006	broad.mit.edu	37	chr16	62055202	62055202	+	Nonsense_Mutation	SNP	G	G	A																															ggatccactcattaaaacttGagactgattcatcggagcca																										TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:62055202G>A	uc002eog.2	-	1	1061	c.106C>T	c.(106-108)Caa>Taa	p.Q36*		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	36					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATTAAAACTTGAGACTGATTC	0.428													8	22					0	0	1	0	0	A	62055202	G	A	62055202	4	1	154	1	0	0	0	0	0	1	0	0	3116	1299	45	3	2337	3	CDH8	16	62055202	Nonsense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	51480461	62055202	28299551	52	6965	27	2									
CDH8	1006	broad.mit.edu	37	chr16	62055208	62055208	+	Nonsense_Mutation	SNP	G	G	A																															actcattaaaacttgagactGattcatcggagccatgtaaa																										TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:62055208G>A	uc002eog.2	-	1	1055	c.100C>T	c.(100-102)Cag>Tag	p.Q34*		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	34					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ACTTGAGACTGATTCATCGGA	0.443													9	20					0	0	1	0	0	A	62055208	G	A	62055208	4	1	154	1	0	0	0	0	0	1	0	0	3116	1299	45	3	2343	3	CDH8	16	62055208	Nonsense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	6	62055208	28299545	53	6966	27	2									
PMFBP1	83449	broad.mit.edu	37	chr16	72166638	72166638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggtgggacagcacctgcagGggcctcaccagccagcctct	7	6	13	15	0	2	0	1	0	1	0	2	1	2	1	5	4	4	2	5	4	0	0			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:72166638G>A	uc002fcc.4	-	9	1628	c.1456C>T	c.(1456-1458)Cct>Tct	p.P486S	PMFBP1_uc002fcd.3_Intron|PMFBP1_uc002fce.3_Intron|PMFBP1_uc002fcf.3_Intron	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	486										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GCACCTGCAGGGGCCTCACCA	0.632													12	45					0	0	1	0	0	A	72166638	G	A	72166638	3	1	154	1	0	0	0	0	1	0	0	0	12134	1247	43	3		3	PMFBP1	16	72166638	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	10111430	72166638	18188115	54	6967											
PLCG2	5336	broad.mit.edu	37	chr16	81925184	81925184	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcattactggatctcctcGtcacataacacgtgagtttc	9	14	6	12	2	3	1	2	1	2	0	7	2	3	2	1	1	2	1	1	1	2	3			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:81925184G>A	uc002fgt.3	+	10	1153	c.975G>A	c.(973-975)tcG>tcA	p.S325S	PLCG2_uc010chg.1_Silent_p.S325S	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	325	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GGATCTCCTCGTCACATAACA	0.552													5	9					0	0	1	0	0	A	81925184	G	A	81925184	2	1	154	1	0	0	0	0	0	0	0	1	12036	1132	40	1		1	PLCG2	16	81925184	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	9758546	81925184	8429569	55	6968											
PLCG2	5336	broad.mit.edu	37	chr16	81953229	81953229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaccgaaagatgagactgcGctaccccgtgacccccgagc	10	5	10	16	4	0	3	0	2	0	2	0	6	0	3	5	0	4	1	5	0	3	2			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:81953229G>A	uc002fgt.3	+	19	2373	c.2195G>A	c.(2194-2196)cGc>cAc	p.R732H	PLCG2_uc010chg.1_Missense_Mutation_p.R732H	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	732	SH2 2.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.R732C(1)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ATGAGACTGCGCTACCCCGTG	0.537													26	39					0	0	1	0	0	A	81953229	G	A	81953229	3	1	154	1	0	0	0	0	1	0	0	0	12036	1087	38	1	2269	1	PLCG2	16	81953229	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	28045	81953229	8401524	56	6969											
HSD17B2	3294	broad.mit.edu	37	chr16	82104638	82104638	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactacaaacaatgcatggcCgtgaacttctttggaactgt	12	11	9	9	1	1	1	0	1	1	0	1	3	1	2	1	2	5	1	1	2	5	3			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:82104638C>T	uc002fgv.3	+	2	742	c.570C>T	c.(568-570)gcC>gcT	p.A190A		NM_002153	NP_002144	P37059	DHB2_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 2 (HSD17B2), mRNA.	190					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	AATGCATGGCCGTGAACTTCT	0.488													16	40					0	0	1	0	0	T	82104638	C	T	82104638	2	4	154	1	0	0	0	0	0	0	0	1	7384	639	23	2		2	HSD17B2	16	82104638	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	151409	82104638	8250115	57	6970											
MYH2	4620	broad.mit.edu	37	chr17	10430103	10430103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagggcatgcgccagggCgttcttggcctatggaggca	6	8	16	11	2	1	0	0	0	1	0	1	1	1	1	2	5	2	4	2	5	1	3			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr17:10430103C>T	uc010coi.3	-	29	4128	c.4000G>A	c.(4000-4002)Gcc>Acc	p.A1334T	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.A1334T|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1334					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.N1333N(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGCGCCAGGGCGTTCTTGGCC	0.493													25	42					0	0	1	0	0	T	10430103	C	T	10430103	3	4	154	1	0	0	0	0	1	0	0	0	10035	768	27	1	1869	1	MYH2	17	10430103	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08		10430103	70765107	58	6971											
FOXN1	8456	broad.mit.edu	37	chr17	26864332	26864332	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtggtggctccggggcactgGgtgacctgcacctcaccacc	5	7	14	15	1	1	1	1	1	0	0	2	1	2	1	5	5	1	3	5	5	0	0			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr17:26864332G>C	uc010crm.3	+	8	2023	c.1825G>C	c.(1825-1827)Ggt>Cgt	p.G609R	FOXN1_uc002hbj.3_Missense_Mutation_p.G609R	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	609					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CGGGGCACTGGGTGACCTGCA	0.687													17	31					0	0	1	0	0	C	26864332	G	C	26864332	3	2	154	1	0	0	0	0	1	0	0	0	6019	1232	43	5	1855	5	FOXN1	17	26864332	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	16434229	26864332	54330878	59	6972											
EFCAB3	146779	broad.mit.edu	37	chr17	60483969	60483969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaagcatggctgcctttgCtaatgctgcccggattgcaa	8	11	10	12	1	1	0	1	0	0	0	1	1	1	1	2	2	6	5	2	2	3	3			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr17:60483969C>T	uc010wpc.2	+	8	844	c.773C>T	c.(772-774)gCt>gTt	p.A258V	EFCAB3_uc002izu.2_Missense_Mutation_p.A206V	NM_001144933	NP_001138405	Q8N7B9	EFCB3_HUMAN	Homo sapiens EF-hand calcium binding domain 3 (EFCAB3), transcript variant 1, mRNA.	206							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			GCTGCCTTTGCTAATGCTGCC	0.428													18	34					0	0	1	0	0	T	60483969	C	T	60483969	3	4	154	1	0	0	0	0	1	0	0	0	4935	797	28	3	807	3	EFCAB3	17	60483969	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	33619637	60483969	20711241	60	6973											
DDX42	11325	broad.mit.edu	37	chr17	61864442	61864442	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggtggtcctggcactaaGcgaggatttggctttggagg	9	10	16	6	1	0	0	0	0	0	0	1	3	1	2	1	7	1	2	1	7	2	3			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr17:61864442G>A	uc002jbu.3	+	2	290	c.33G>A	c.(31-33)aaG>aaA	p.K11K	DDX42_uc002jbv.3_Silent_p.K11K	NM_007372	NP_987095	Q86XP3	DDX42_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 (DDX42), transcript variant 1, mRNA.	11					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CTGGCACTAAGCGAGGATTTG	0.448													40	88					0	0	1	0	0	A	61864442	G	A	61864442	2	1	154	1	0	0	0	0	0	0	0	1	4362	962	34	3		3	DDX42	17	61864442	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	1380473	61864442	19330768	61	6974											
ARSG	22901	broad.mit.edu	37	chr17	66391215	66391215	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcttgttatttccgcagcGtgctggacatttttccaact	7	16	8	10	2	1	0	0	0	1	0	3	1	3	1	2	1	3	3	2	1	2	5			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr17:66391215G>A	uc002jhc.2	+	10	1888	c.1092_splice	c.e10-1	p.S364_splice	TRNA_Und_uc021uce.1_5'Flank	NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	Homo sapiens arylsulfatase G (ARSG), mRNA.	364					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTCCGCAGCGTGCTGGACAT	0.597													16	26					0	0	1	0	0	A	66391215	G	A	66391215	5	1	154	1	0	0	0	0	0	0	1	0	992	1159	40	1	1127	1	ARSG	17	66391215	Splice_Site	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	4526773	66391215	14803995	62	6975											
TIMP2	7077	broad.mit.edu	37	chr17	76851869	76851869	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctggtgcccgttgatgttCttctctgtgacccagtccat	4	14	10	13	1	2	2	0	2	2	0	4	2	3	2	4	1	1	2	4	1	0	3			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr17:76851869C>T	uc002jwf.3	-	4	845	c.543G>A	c.(541-543)aaG>aaA	p.K181K	TIMP2_uc002jwe.3_Silent_p.K104K|TIMP2_uc010wty.2_Silent_p.K104K	NM_003255	NP_003246	P16035	TIMP2_HUMAN	Homo sapiens TIMP metallopeptidase inhibitor 2 (TIMP2), mRNA.	181							metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			CGTTGATGTTCTTCTCTGTGA	0.642													30	52					0	0	1	0	0	T	76851869	C	T	76851869	2	4	154	1	0	0	0	0	0	0	0	1	15915	912	32	3		3	TIMP2	17	76851869	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	10460654	76851869	4343341	63	6976											
FHOD3	80206	broad.mit.edu	37	chr18	34156464	34156464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgaatggagtaataaacCgcaatgaaaccattcagtgg	17	8	10	6	1	1	2	1	2	0	0	1	4	1	3	2	2	2	2	2	2	7	3	rs143579901	byFrequency	TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr18:34156464C>T	uc021uiv.1	+	5	659	c.562C>T	c.(562-564)Cgc>Tgc	p.R188C	FHOD3_uc002kzr.1_Missense_Mutation_p.R188C|FHOD3_uc002kzs.1_Missense_Mutation_p.R188C|FHOD3_uc002kzt.1_Missense_Mutation_p.R188C|FHOD3_uc002kzu.1_Missense_Mutation_p.R13C	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	188	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AGTAATAAACCGCAATGAAAC	0.373													17	23					0	0	1	0	0	T	34156464	C	T	34156464	3	4	154	1	0	0	0	0	1	0	0	0	5883	652	23	2	584	2	FHOD3	18	34156464	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08		34156464	43920784	64	6977											
SEC11C	90701	broad.mit.edu	37	chr18	56816768	56816768	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tattaccaggttttaaacttCgccatgatcgtgtcttctgc	8	16	7	10	2	2	1	0	1	2	0	4	1	2	1	2	1	3	1	2	1	4	6			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr18:56816768C>T	uc002lht.3	+	1	167	c.111C>T	c.(109-111)ttC>ttT	p.F37F	SEC11C_uc010dpo.1_Silent_p.F37F|SEC11C_uc010xej.1_Silent_p.F37F	NM_033280	NP_150596	Q9BY50	SC11C_HUMAN	Homo sapiens SEC11 homolog C (S. cerevisiae) (SEC11C), mRNA.	37					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	serine-type peptidase activity			endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9		Colorectal(73;0.175)				TTTTAAACTTCGCCATGATCG	0.493													32	59					0	0	1	0	0	T	56816768	C	T	56816768	2	4	154	1	0	0	0	0	0	0	0	1	13979	883	31	2		2	SEC11C	18	56816768	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	22660304	56816768	21260480	65	6978											
SERPINB7	8710	broad.mit.edu	37	chr18	61449715	61449715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcctctctgagcctcttcGctgccctggccctggtccgc	1	13	9	18	2	2	1	0	1	2	0	6	1	4	1	5	2	2	1	5	2	0	2			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr18:61449715G>A	uc002ljl.3	+	1	205	c.109G>A	c.(109-111)Gct>Act	p.A37T	SERPINB7_uc002ljm.3_Missense_Mutation_p.A37T|SERPINB7_uc010xet.2_Missense_Mutation_p.A37T|SERPINB7_uc010dqg.3_Missense_Mutation_p.A37T	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	37					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	p.A37>?(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GAGCCTCTTCGCTGCCCTGGC	0.483													16	31					0	0	1	0	0	A	61449715	G	A	61449715	3	1	154	1	0	0	0	0	1	0	0	0	14106	1087	38	1	111	1	SERPINB7	18	61449715	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	4632947	61449715	16627533	66	6979											
ZNF236	7776	broad.mit.edu	37	chr18	74667996	74667996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagccagagaaggagggccGggcgcaccagtgcctggagt	9	3	17	12	2	0	1	0	0	0	1	0	4	0	3	5	4	2	1	5	4	1	0			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr18:74667996G>A	uc002lmi.3	+	27	5162	c.4964G>A	c.(4963-4965)cGg>cAg	p.R1655Q	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	1655					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AAGGAGGGCCGGGCGCACCAG	0.637													6	10					0	0	1	0	0	A	74667996	G	A	74667996	3	1	154	1	0	0	0	0	1	0	0	0	17786	1116	39	2	5074	2	ZNF236	18	74667996	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	13218281	74667996	3409252	67	6980											
C19orf21	126353	broad.mit.edu	37	chr19	757391	757391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcgctgggccgtcatccagGgccaggcagtcaggaagagc	9	4	16	12	2	2	1	2	0	0	1	3	2	3	2	3	4	2	2	3	4	1	0			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:757391G>A	uc002lpo.3	+	1	528	c.445G>A	c.(445-447)Ggc>Agc	p.G149S		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	149										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		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)		CGTCATCCAGGGCCAGGCAGT	0.697													3	9					0	0	1	0	0	A	757391	G	A	757391	3	1	154	1	0	0	0	0	1	0	0	0	1913	1232	43	3	447	3	C19orf21	19	757391	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08		757391	58371592	68	6981											
ABCA7	10347	broad.mit.edu	37	chr19	1053821	1053821	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggaggagtgtgctgcggAcacagatatggagggtgcgg	8	7	21	5	2	0	1	0	0	0	1	0	5	0	5	0	7	3	1	0	7	1	1			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:1053821A>C	uc002lqw.4	+	24	3689	c.3458A>C	c.(3457-3459)gAc>gCc	p.D1153A	ABCA7_uc010dsb.1_Missense_Mutation_p.D1015A	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	1153					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		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)		TGTGCTGCGGACACAGATATG	0.637													18	79					0	0	1	0	0	C	1053821	A	C	1053821	3	2	154	1	0	0	0	0	1	0	0	0	37	275	10	5	3552	5	ABCA7	19	1053821	Missense_Mutation	SNP	A	TCGA-FG-A4MW-01A-11D-A26M-08	296430	1053821	58075162	69	6982											
ATP8B3	148229	broad.mit.edu	37	chr19	1785489	1785489	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccatggtgatggacagcagGcaagacagggccaccacgac	12	4	13	12	1	0	2	0	1	0	1	1	4	1	3	3	4	1	2	3	4	1	0			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:1785489G>A	uc002ltw.3	-	25	3606	c.3372C>T	c.(3370-3372)tgC>tgT	p.C1124C	ATP8B3_uc002ltv.3_Silent_p.C1087C|ATP8B3_uc002ltx.3_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	1124					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		TGGACAGCAGGCAAGACAGGG	0.647													6	30					0	0	1	0	0	A	1785489	G	A	1785489	2	1	154	1	0	0	0	0	0	0	0	1	1196	1195	42	3		3	ATP8B3	19	1785489	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	731668	1785489	57343494	70	6983											
KANK3	256949	broad.mit.edu	37	chr19	8389602	8389602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcactggcacacatcagcGctgtggccccatccgcatcc	8	7	8	18	2	2	0	2	0	0	0	4	0	4	0	4	2	1	3	4	2	0	0			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:8389602G>A	uc010dwa.3	-	8	2261	c.2195C>T	c.(2194-2196)gCg>gTg	p.A732V		NM_198471	NP_940873	Q6NY19	KANK3_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 3 (KANK3), mRNA.	732										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						ACACATCAGCGCTGTGGCCCC	0.637													20	54					0	0	1	0	0	A	8389602	G	A	8389602	3	1	154	1	0	0	0	0	1	0	0	0	7978	1087	38	1	282	1	KANK3	19	8389602	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	6604113	8389602	50739381	71	6984											
OR7C2	26658	broad.mit.edu	37	chr19	15052351	15052351	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactttctcctcctgggattCgcagaggactctgacatgca	9	11	9	12	1	2	2	0	1	2	1	5	4	3	4	2	2	2	2	2	2	1	2			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:15052351C>T	uc010xoc.2	+	0	51	c.51C>T	c.(49-51)ttC>ttT	p.F17F		NM_012377	NP_036509	O60412	OR7C2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA.	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					TCCTGGGATTCGCAGAGGACT	0.498													26	82					0	0	1	0	0	T	15052351	C	T	15052351	2	4	154	1	0	0	0	0	0	0	0	1	11218	883	31	2		2	OR7C2	19	15052351	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	6662749	15052351	44076632	72	6985											
ZNF492	57615	broad.mit.edu	37	chr19	22847685	22847685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggcaaagcttttaacctatCgtcacaacttactacacata	14	12	4	11	1	1	0	1	0	0	0	2	0	1	0	1	1	5	2	1	1	7	6			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:22847685C>T	uc002nqw.3	+	3	1458	c.1214C>T	c.(1213-1215)tCg>tTg	p.S405L		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	Homo sapiens zinc finger protein 492 (ZNF492), mRNA.	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TTTAACCTATCGTCACAACTT	0.383													8	49					0	0	1	0	0	T	22847685	C	T	22847685	3	4	154	1	0	0	0	0	1	0	0	0	17940	893	31	2	1224	2	ZNF492	19	22847685	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	7795334	22847685	36281298	73	6986											
ATP4A	495	broad.mit.edu	37	chr19	36046393	36046393	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgctgggggctggtgcgCgcaaacaccatctcggggtg	5	9	16	11	3	2	0	0	0	2	0	3	0	2	0	1	5	3	3	1	5	1	1	rs143513836	byFrequency	TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:36046393C>T	uc002oal.1	-	13	2135	c.2106G>A	c.(2104-2106)gcG>gcA	p.A702A	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	702					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GGCTGGTGCGCGCAAACACCA	0.667													10	32					0	0	1	0	0	T	36046393	C	T	36046393	2	4	154	1	0	0	0	0	0	0	0	1	1145	755	27	1		1	ATP4A	19	36046393	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	13198708	36046393	23082590	74	6987											
PRX	57716	broad.mit.edu	37	chr19	40900042	40900043	+	Frame_Shift_Del	DEL	TT	TT	-																															ggaagcggaacttgggtgacTtctctctgacgggggacttg																										TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:40900042_40900043delTT	uc002onr.3	-	6	4485_4486	c.4216_4217delAA	c.(4216-4218)aagfs	p.K1406fs	PRX_uc002onq.3_Frame_Shift_Del_p.K1267fs|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	1406					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTTGGGTGACTTCTCTCTGACG	0.688													39	130	---	---	---	---						-	40900043	TT	-	40900042	7	5	154	1	0	1	0	1	0	0	0	0	12642	1609	56	0	172	0	PRX	19	40900042	Frame_Shift_Del	DEL	TT	TCGA-FG-A4MW-01A-11D-A26M-08	4853649	40900042	18228941	75	6988											
SNRPA	6626	broad.mit.edu	37	chr19	41268829	41268829	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccgccgatgactcaggcGccccgcattatgcaccacat	9	7	9	16	4	1	1	1	1	0	0	1	2	1	1	5	1	2	2	5	1	1	1			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:41268829G>A	uc002ooz.3	+	3	1005	c.450G>A	c.(448-450)gcG>gcA	p.A150A		NM_004596	NP_004587	P09012	SNRPA_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide A (SNRPA), mRNA.	150	Pro-rich.					nucleoplasm|spliceosomal complex	RNA binding|nucleotide binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TGACTCAGGCGCCCCGCATTA	0.657													11	24					0	0	1	0	0	A	41268829	G	A	41268829	2	1	154	1	0	0	0	0	0	0	0	1	14859	1074	38	1		1	SNRPA	19	41268829	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	368787	41268829	17860154	76	6989											
ZNF226	7769	broad.mit.edu	37	chr19	44681060	44681060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagttcgtatcttcaaatcCatcagaaggcccacagtata	15	10	6	10	1	3	1	2	0	1	1	5	1	4	1	2	1	0	3	2	1	6	5			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:44681060C>T	uc002oys.3	+	5	1825	c.1645C>T	c.(1645-1647)Cat>Tat	p.H549Y	ZNF226_uc002oyp.3_Missense_Mutation_p.H549Y|ZNF226_uc002oyq.3_Missense_Mutation_p.H432Y|ZNF226_uc002oyr.3_Missense_Mutation_p.H432Y|ZNF226_uc002oyt.3_Missense_Mutation_p.H549Y	NM_001032372	NP_001027545	Q9NYT6	ZN226_HUMAN	Homo sapiens zinc finger protein 226 (ZNF226), transcript variant 1, mRNA.	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				TCTTCAAATCCATCAGAAGGC	0.443													30	99					0	0	1	0	0	T	44681060	C	T	44681060	3	4	154	1	0	0	0	0	1	0	0	0	17777	594	21	3	1713	3	ZNF226	19	44681060	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	3412231	44681060	14447923	77	6990											
ISM1	140862	broad.mit.edu	37	chr20	13280078	13280078	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcggacgaggactacatcaAgcagttccaagaggccaggg	12	5	13	11	2	1	1	1	0	0	1	3	4	2	3	2	4	2	2	2	4	3	2			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr20:13280078A>G	uc010gce.1	+	5	1373	c.1367A>G	c.(1366-1368)aAg>aGg	p.K456R	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA.	456						extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GACTACATCAAGCAGTTCCAA	0.567													30	52					0	0	1	0	0	G	13280078	A	G	13280078	3	3	154	1	0	0	0	0	1	0	0	0	7860	72	3	4	1389	4	ISM1	20	13280078	Missense_Mutation	SNP	A	TCGA-FG-A4MW-01A-11D-A26M-08		13280078	49745442	78	6991											
RIN2	54453	broad.mit.edu	37	chr20	19945627	19945627	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaggctcaggaatcagtttCgcagatttattccggctcat	10	12	10	9	2	3	1	3	0	0	1	5	3	4	2	1	3	0	4	1	3	3	4			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr20:19945627C>T	uc002wro.2	+	5	791	c.642C>T	c.(640-642)ttC>ttT	p.F214F	RIN2_uc010gcu.2_Intron|RIN2_uc010gcv.2_Intron	NM_001242581	NP_001229510	Q8WYP3	RIN2_HUMAN	Homo sapiens Ras and Rab interactor 2 (RIN2), transcript variant 1, mRNA.	165					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GAATCAGTTTCGCAGATTTAT	0.478													23	59					0	0	1	0	0	T	19945627	C	T	19945627	2	4	154	1	0	0	0	0	0	0	0	1	13372	883	31	2		2	RIN2	20	19945627	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	6665549	19945627	43079893	79	6992											
CABIN1	23523	broad.mit.edu	37	chr22	24451502	24451502	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagttaacgtgatccagccaAgcactgtcagcaccaaccca	13	6	7	15	1	1	1	1	1	0	0	2	1	2	1	4	0	5	3	4	0	3	1			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr22:24451502A>G	uc002zzi.1	+	8	1100	c.973A>G	c.(973-975)Agc>Ggc	p.S325G	CABIN1_uc021wnc.1_Missense_Mutation_p.S275G|CABIN1_uc002zzj.1_Missense_Mutation_p.S275G|CABIN1_uc002zzl.2_Missense_Mutation_p.S325G|CABIN1_uc010guk.1_Missense_Mutation_p.S280G|CABIN1_uc002zzk.2_Missense_Mutation_p.S280G	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	325					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GATCCAGCCAAGCACTGTCAG	0.577													25	67					0	0	1	0	0	G	24451502	A	G	24451502	3	3	154	1	0	0	0	0	1	0	0	0	2528	72	3	4	1003	4	CABIN1	22	24451502	Missense_Mutation	SNP	A	TCGA-FG-A4MW-01A-11D-A26M-08		24451502	26853064	80	6993											
MYO18B	84700	broad.mit.edu	37	chr22	26164406	26164406	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagactcatccccatgacGcccccccttgcaagacctct	10	7	6	18	1	2	4	1	1	1	3	3	4	3	4	6	0	1	1	6	0	2	1			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr22:26164406G>A	uc003abz.1	+	3	773	c.523G>A	c.(523-525)Gcc>Acc	p.A175T	MYO18B_uc003aca.1_Missense_Mutation_p.A56T|MYO18B_uc010guy.1_Missense_Mutation_p.A56T|MYO18B_uc010guz.1_Missense_Mutation_p.A56T|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	175						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCCCCATGACGCCCCCCCTTG	0.597													3	10					0	0	1	0	0	A	26164406	G	A	26164406	3	1	154	1	0	0	0	0	1	0	0	0	10066	1087	38	1	533	1	MYO18B	22	26164406	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	1712904	26164406	25140160	81	6994											
KIAA1210	57481	broad.mit.edu	37	chrX	118284501	118284501	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccaggaaggagagaagcGtgaaaggcagagaagcctcg	14	2	17	8	3	0	3	0	1	0	2	1	7	0	5	2	4	2	1	2	4	4	0			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chrX:118284501G>A	uc004era.4	-	0	42	c.42C>T	c.(40-42)caC>caT	p.H14H		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	14										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GGAGAGAAGCGTGAAAGGCAG	0.642													47	17					0	0	1	0	0	A	118284501	G	A	118284501	2	1	154	1	0	0	0	0	0	0	0	1	8214	1136	40	1		1	KIAA1210	23	118284501	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08		118284501	36986059	82	6995											
CUL4B	8450	broad.mit.edu	37	chrX	119678463	119678465	+	In_Frame_Del	DEL	ATA	ATA	-																															tctgcactttctgatcacttAtaatatgagccctaaataac																								rs144312827		TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chrX:119678463_119678465delATA	uc004esw.3	-	7	1445_1447	c.1008_1010delTAT	c.(1006-1011)attata>ata	p.336_337II>I	CUL4B_uc010nqq.3_In_Frame_Del_p.35_36II>I|CUL4B_uc004esv.3_In_Frame_Del_p.318_319II>I	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	Homo sapiens cullin 4B (CUL4B), transcript variant 1, mRNA.	336					DNA repair|cell cycle|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	p.H335Y(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTGATCACTTATAATATGAGCCC	0.35													5	8	---	---	---	---						-	119678465	ATA	-	119678463	7	5	154	1	0	1	0	1	0	0	0	0	4058	449	16	0	1791	0	CUL4B	23	119678463	In_Frame_Del	DEL	ATA	TCGA-FG-A4MW-01A-11D-A26M-08	1393962	119678463	35592097	83	6996											
MAGEA11	4110	broad.mit.edu	37	chrX	148798319	148798319	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggggtccaagggcccaCgctgagaccagcaagatgaa	11	5	14	11	1	0	3	0	2	0	2	1	4	1	3	3	3	1	2	3	3	3	0			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chrX:148798319C>T	uc004fdq.3	+	4	1328	c.1173C>T	c.(1171-1173)caC>caT	p.H391H	MAGEA11_uc004fdr.3_Silent_p.H362H	NM_005366	NP_005357	P43364	MAGAB_HUMAN	Homo sapiens melanoma antigen family A, 11 (MAGEA11), transcript variant 1, mRNA.	391	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CAAGGGCCCACGCTGAGACCA	0.527													69	25					0	0	1	0	0	T	148798319	C	T	148798319	2	4	154	1	0	0	0	0	0	0	0	1	9165	535	19	1		1	MAGEA11	23	148798319	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	29119856	148798319	6472241	84	6997											
TBL1Y	90665	broad.mit.edu	37	chrY	6911098	6911098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaatgggacactagtgccaCcgtctgccctcatctccatt	8	11	7	15	1	4	0	2	0	2	0	5	1	4	1	4	1	2	0	4	1	2	2			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chrY:6911098C>T	uc004frb.3	+	6	783	c.136C>T	c.(136-138)Ccg>Tcg	p.P46S	TBL1Y_uc004frc.3_Missense_Mutation_p.P46S|TBL1Y_uc004frd.3_Missense_Mutation_p.P46S|TBL1Y_uc011nap.2_5'UTR	NM_033284	NP_599021	Q9BQ87	TBL1Y_HUMAN	Homo sapiens transducin (beta)-like 1, Y-linked (TBL1Y), transcript variant 1, mRNA.	46	F-box-like.				transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						ACTAGTGCCACCGTCTGCCCT	0.532													14	9					0	0	1	0	0	T	6911098	C	T	6911098	3	4	154	1	0	0	0	0	1	0	0	0	15638	507	18	3	142	3	TBL1Y	24	6911098	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08		6911098	52462468	85	6998											
RAD51AP2	729475	broad.mit.edu	37	chr2	17699300	17699300	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagaccttcctgaagccCtcaaatcagaatcaggactt	12	9	6	14	0	4	3	4	1	0	2	5	4	5	4	4	1	1	0	4	1	3	2			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr2:17699300C>A	uc002rcl.1	-	0	407	c.383G>T	c.(382-384)aGg>aTg	p.R128M	RAD51AP2_uc010exn.1_Missense_Mutation_p.R119M	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	128										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCCTGAAGCCCTCAAATCAGA	0.488													13	45					6.72482e-11	7.14513e-11	1	1	0	A	17699300	C	A	17699300	3	1	155	1	0	0	0	0	1	0	0	0	12987	681	24	5	3108	5	RAD51AP2	2	17699300	Missense_Mutation	SNP	C	TCGA-FG-A4MX-01A-11D-A26M-08		17699300	225500073	1	6999											
FAM179A	165186	broad.mit.edu	37	chr2	29222093	29222093	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgaacaacgaggaaccGtcacagctcctgcgtggact	10	7	11	13	3	1	1	1	1	0	0	2	4	2	3	2	2	6	2	2	2	3	0			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr2:29222093G>A	uc010ezl.3	+	3	537	c.186G>A	c.(184-186)ccG>ccA	p.P62P	FAM179A_uc010ymm.2_Silent_p.P62P	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	62							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACGAGGAACCGTCACAGCTCC	0.627													16	14					0	0	1	0	0	A	29222093	G	A	29222093	2	1	155	1	0	0	0	0	0	0	0	1	5505	1132	40	1		1	FAM179A	2	29222093	Silent	SNP	G	TCGA-FG-A4MX-01A-11D-A26M-08	11522793	29222093	213977280	2	7000											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								23	27					0	0	1	0	0	T	209113112	C	T	209113112	3	4	155	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A4MX-01A-11D-A26M-08	179891019	209113112	34086261	3	7001											
SLC6A20	54716	broad.mit.edu	37	chr3	45811778	45811778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgcttgggtaggcagatgCgaggtagcccttcacctgct	6	12	13	10	1	1	1	1	0	0	1	1	2	1	1	2	3	4	5	2	3	2	5			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr3:45811778C>T	uc011bai.2	-	6	1145	c.1021G>A	c.(1021-1023)Gca>Aca	p.A341T	SLC6A20_uc003cow.3_5'UTR|SLC6A20_uc011baj.2_Missense_Mutation_p.A304T	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	341					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		TAGGCAGATGCGAGGTAGCCC	0.522													4	62					0	0	1	0	0	T	45811778	C	T	45811778	3	4	155	1	0	0	0	0	1	0	0	0	14684	768	27	1	777	1	SLC6A20	3	45811778	Missense_Mutation	SNP	C	TCGA-FG-A4MX-01A-11D-A26M-08		45811778	152210652	4	7002											
REV3L	5980	broad.mit.edu	37	chr6	111694047	111694050	+	Frame_Shift_Del	DEL	TAAA	TAAA	-																															tttcttgaaacatacagttcTaaatcttcacaggccacgtc																										TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr6:111694047_111694050delTAAA	uc003puy.4	-	12	5849_5852	c.5508_5511delTTTA	c.(5506-5511)gatttafs	p.D1836fs	REV3L_uc003pux.4_Frame_Shift_Del_p.D1758fs|REV3L_uc003puz.4_Frame_Shift_Del_p.D1758fs	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	1836					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	p.V1837V(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CATACAGTTCTAAATCTTCACAGG	0.417								DNA polymerases (catalytic subunits)					40	88	---	---	---	---						-	111694050	TAAA	-	111694047	7	5	155	1	0	1	0	1	0	0	0	0	13240	1519	53	0	3961	0	REV3L	6	111694047	Frame_Shift_Del	DEL	TAAA	TCGA-FG-A4MX-01A-11D-A26M-08		111694047	59421020	5	7003											
CFTR	1080	broad.mit.edu	37	chr7	117232112	117232112	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatttttatgggacatttTcagaactccaaaatctacag	13	14	6	8	0	2	1	1	0	1	1	3	2	3	2	1	1	2	1	1	1	6	7	rs121908777		TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr7:117232112T>C	uc003vjd.3	+	13	2023	c.1891T>C	c.(1891-1893)Tca>Cca	p.S631P	CFTR_uc011knq.2_Missense_Mutation_p.S37P	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	631	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TGGGACATTTTCAGAACTCCA	0.338									Cystic Fibrosis				34	31					0	0	1	0	0	C	117232112	T	C	117232112	3	2	155	1	0	0	0	0	1	0	0	0	3294	1783	62	3	1945	3	CFTR	7	117232112	Missense_Mutation	SNP	T	TCGA-FG-A4MX-01A-11D-A26M-08		117232112	41906551	6	7004											
FSCN3	29999	broad.mit.edu	37	chr7	127240376	127240376	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tactggcccccaatggcttcTacatgcgagccgaccaaagt	10	8	9	14	2	1	0	0	0	1	0	1	2	1	0	4	2	4	1	4	2	4	3			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr7:127240376T>C	uc003vmd.2	+	5	1639	c.1420T>C	c.(1420-1422)Tac>Cac	p.Y474H	FSCN3_uc011koh.1_Missense_Mutation_p.L338P|FSCN3_uc010llc.2_Missense_Mutation_p.L472P	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	Homo sapiens fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (FSCN3), mRNA.	474						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CAATGGCTTCTACATGCGAGC	0.517													12	31					0	0	1	0	0	C	127240376	T	C	127240376	3	2	155	1	0	0	0	0	1	0	0	0	6069	1522	53	4	1442	4	FSCN3	7	127240376	Missense_Mutation	SNP	T	TCGA-FG-A4MX-01A-11D-A26M-08	10008264	127240376	31898287	7	7005											
EXT1	2131	broad.mit.edu	37	chr8	118842536	118842536	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacaagaattgtgtctgcTgtctaagtgctaggatttta	10	14	9	8	0	2	1	0	0	2	1	2	2	2	2	1	1	2	2	1	1	5	5			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr8:118842536T>C	uc003yok.1	-	3	1990	c.1217A>G	c.(1216-1218)cAg>cGg	p.Q406R		NM_000127	NP_000118	Q16394	EXT1_HUMAN	Homo sapiens exostosin 1 (EXT1), mRNA.	406					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TTGTGTCTGCTGTCTAAGTGC	0.378			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses				18	10					0	0	1	0	0	C	118842536	T	C	118842536	3	2	155	1	0	0	0	0	1	0	0	0	5323	1580	55	4	1055	4	EXT1	8	118842536	Missense_Mutation	SNP	T	TCGA-FG-A4MX-01A-11D-A26M-08		118842536	27521486	8	7006											
FREM1	158326	broad.mit.edu	37	chr9	14805068	14805068	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgacgtacaccgtgaactgGtcggcagttggttctatcct	7	12	12	10	3	1	2	0	2	1	0	3	2	2	2	2	3	2	4	2	3	3	4			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr9:14805068G>T	uc003zlm.3	-	19	4173	c.3357C>A	c.(3355-3357)gaC>gaA	p.D1119E	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1119					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCGTGAACTGGTCGGCAGTTG	0.438													6	55					5.9392e-07	6.11918e-07	1	1	0	T	14805068	G	T	14805068	3	4	155	1	0	0	0	0	1	0	0	0	6044	1252	44	5	3308	5	FREM1	9	14805068	Missense_Mutation	SNP	G	TCGA-FG-A4MX-01A-11D-A26M-08		14805068	126408363	9	7007											
LGI1	9211	broad.mit.edu	37	chr10	95557288	95557288	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggctcctcgttccaggatAttcagaggatgccatcgcga	9	9	12	11	3	1	1	1	0	0	1	5	5	3	3	3	3	1	2	3	3	1	3			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr10:95557288A>G	uc001kjc.4	+	7	1738	c.1402A>G	c.(1402-1404)Att>Gtt	p.I468V	LGI1_uc021pwk.1_Intron|LGI1_uc010qnv.2_Missense_Mutation_p.I420V|LGI1_uc009xui.3_Non-coding_Transcript	NM_005097	NP_005088	O95970	LGI1_HUMAN	Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA.	468					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GTTCCAGGATATTCAGAGGAT	0.428													28	22					0	0	1	0	0	G	95557288	A	G	95557288	3	3	155	1	0	0	0	0	1	0	0	0	8751	449	16	3	1432	3	LGI1	10	95557288	Missense_Mutation	SNP	A	TCGA-FG-A4MX-01A-11D-A26M-08		95557288	39977459	10	7008											
PDCD11	22984	broad.mit.edu	37	chr10	105185105	105185105	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatggtcacagggactgTcaagtccattaagcctaccc	11	8	10	12	0	2	0	2	0	0	0	3	2	3	2	3	3	2	0	3	3	3	2			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr10:105185105T>C	uc001kwy.1	+	19	3215	c.3128T>C	c.(3127-3129)gTc>gCc	p.V1043A		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	1043	S1 motif 9.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ACAGGGACTGTCAAGTCCATT	0.502													6	72					0	0	1	0	0	C	105185105	T	C	105185105	3	2	155	1	0	0	0	0	1	0	0	0	11617	1667	58	3	3202	3	PDCD11	10	105185105	Missense_Mutation	SNP	T	TCGA-FG-A4MX-01A-11D-A26M-08	9627817	105185105	30349642	11	7009											
ZMYM2	7750	broad.mit.edu	37	chr13	20656935	20656935	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttaagggtcaatattctctCgagttgaagaagactatctc	12	14	8	7	1	3	3	1	1	2	2	6	4	3	3	0	1	0	1	0	1	6	6			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr13:20656935C>T	uc001umr.3	+	23	3881	c.3583C>T	c.(3583-3585)Cga>Tga	p.R1195*	ZMYM2_uc001ums.3_Nonsense_Mutation_p.R1195*|ZMYM2_uc021rgy.1_Nonsense_Mutation_p.R1195*|ZMYM2_uc001umt.3_Nonsense_Mutation_p.R1195*|ZMYM2_uc001umv.3_Nonsense_Mutation_p.R575*|ZMYM2_uc001umw.3_Nonsense_Mutation_p.R648*	NM_003453	NP_932072	Q9UBW7	ZMYM2_HUMAN	Homo sapiens zinc finger, MYM-type 2 (ZMYM2), transcript variant 1, mRNA.	1195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		AATATTCTCTCGAGTTGAAGA	0.313													6	5					0	0	1	0	0	T	20656935	C	T	20656935	4	4	155	1	0	0	0	0	0	1	0	0	17697	876	31	2	3665	2	ZMYM2	13	20656935	Nonsense_Mutation	SNP	C	TCGA-FG-A4MX-01A-11D-A26M-08		20656935	94512943	12	7010											
CCNB2	9133	broad.mit.edu	37	chr15	59409442	59409442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttaggttgatgttgaacagCacactttagccaagtatttg	11	14	9	7	0	0	2	0	2	0	0	0	2	0	2	1	1	3	4	1	1	5	7			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr15:59409442C>T	uc002afz.3	+	6	1034	c.850C>T	c.(850-852)Cac>Tac	p.H284Y		NM_004701	NP_004692	O95067	CCNB2_HUMAN	Homo sapiens cyclin B2 (CCNB2), mRNA.	284					G2/M transition of mitotic cell cycle|cell cycle checkpoint|cell division|mitosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	centrosome|cytosol|nucleus	protein kinase binding			kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						TGTTGAACAGCACACTTTAGC	0.423													10	44					0	0	1	0	0	T	59409442	C	T	59409442	3	4	155	1	0	0	0	0	1	0	0	0	2913	710	25	3	876	3	CCNB2	15	59409442	Missense_Mutation	SNP	C	TCGA-FG-A4MX-01A-11D-A26M-08		59409442	43121950	13	7011											
BBS4	585	broad.mit.edu	37	chr15	73028230	73028230	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagggcgagaagaagaacGccctggcccaatatcaggag	14	3	13	11	2	1	3	1	0	0	3	1	5	1	4	3	3	1	0	3	3	5	1			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr15:73028230G>A	uc002avd.3	+	13	1533	c.1195G>A	c.(1195-1197)Gcc>Acc	p.A399T	BBS4_uc010ukv.2_Missense_Mutation_p.A379T|BBS4_uc002avb.3_Missense_Mutation_p.A391T|BBS4_uc002avc.3_Missense_Mutation_p.A219T	NM_001252678	NP_001239607	Q96RK4	BBS4_HUMAN	Homo sapiens Bardet-Biedl syndrome 4 (BBS4), transcript variant 2, mRNA.	391	Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						GAAGAAGAACGCCCTGGCCCA	0.483									Bardet-Biedl syndrome				9	93					0	0	1	0	0	A	73028230	G	A	73028230	3	1	155	1	0	0	0	0	1	0	0	0	1339	1087	38	1	1225	1	BBS4	15	73028230	Missense_Mutation	SNP	G	TCGA-FG-A4MX-01A-11D-A26M-08	13618788	73028230	29503162	14	7012											
TP53	7157	broad.mit.edu	37	chr17	7578466	7578466	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggccatggcgcggacgcggGtgccgggcgggggtgtggaa	4	5	23	9	6	0	0	0	0	0	0	0	2	0	2	2	8	1	0	2	8	1	0			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr17:7578466G>T	uc002gim.2	-	4	658	c.464C>A	c.(463-465)aCc>aAc	p.T155N	TP53_uc002gig.1_Missense_Mutation_p.T155N|TP53_uc002gih.3_Missense_Mutation_p.T155N|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.T23N|TP53_uc010cnf.1_Missense_Mutation_p.T23N|TP53_uc002gii.1_Missense_Mutation_p.T23N|TP53_uc010cni.1_Missense_Mutation_p.T155N|TP53_uc010cnh.1_Missense_Mutation_p.T155N|TP53_uc002gij.2_Missense_Mutation_p.T155N|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.T62N|TP53_uc002gio.2_Missense_Mutation_p.T23N|TP53_uc010vug.2_Missense_Mutation_p.T116N	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	155	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.T155N(42)|p.G154V(41)|p.T155I(26)|p.T155P(16)|p.G154G(12)|p.G154S(9)|p.T155A(8)|p.0?(8)|p.G154D(6)|p.?(5)|p.T155T(5)|p.G154fs*14(4)|p.T155fs*23(4)|p.P152fs*14(4)|p.G154I(3)|p.G154fs*27(3)|p.T155S(3)|p.P151_V173del23(2)|p.G154fs*16(2)|p.G154_R156delGTR(2)|p.G154C(2)|p.T155fs*25(2)|p.D148_T155delDSTPPPGT(2)|p.P153fs*22(2)|p.T155_A161delTRVRAMA(2)|p.G154fs*22(2)|p.T155_R156delTR(2)|p.T155fs*26(1)|p.R156_A161del(1)|p.G154A(1)|p.D148fs*23(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.T23N(1)|p.T62N(1)|p.T62I(1)|p.T23I(1)|p.T155_R156insDSTPPPGT(1)|p.T155fs*15(1)|p.R156fs*25(1)|p.P153_G154insX(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)		GCGGACGCGGGTGCCGGGCGG	0.612		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)			73	10					2.13026e-44	2.33642e-44	1	1	0	T	7578466	G	T	7578466	3	4	155	1	0	0	0	0	1	0	0	0	16378	1261	44	5	834	5	TP53	17	7578466	Missense_Mutation	SNP	G	TCGA-FG-A4MX-01A-11D-A26M-08		7578466	73616744	15	7013											
MAP1S	55201	broad.mit.edu	37	chr19	17845207	17845207	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgtccatgcaggatgaCgccttcccggcctgcaaggt	7	9	13	12	2	0	1	0	1	0	0	2	2	2	2	4	4	2	2	4	4	1	1			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr19:17845207C>T	uc002nhe.1	+	6	3159	c.3150C>T	c.(3148-3150)gaC>gaT	p.D1050D	MAP1S_uc010xpv.1_Silent_p.D1024D	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA.	1050	Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	DNA binding|actin filament binding|beta-tubulin binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TGCAGGATGACGCCTTCCCGG	0.632													21	46					0	0	1	0	0	T	17845207	C	T	17845207	2	4	155	1	0	0	0	0	0	0	0	1	9234	535	19	1		1	MAP1S	19	17845207	Silent	SNP	C	TCGA-FG-A4MX-01A-11D-A26M-08		17845207	41283776	16	7014											
MEIS3	56917	broad.mit.edu	37	chr19	47910360	47910360	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcggttggattgatcgatcaTaggttgcacgatgcgtctcc	7	12	13	9	4	2	1	1	1	1	0	4	4	2	2	1	3	2	3	1	3	1	4			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr19:47910360T>C	uc002pgq.3	-	9	1279	c.1213A>G	c.(1213-1215)Atg>Gtg	p.M405V	MEIS3_uc002pgo.3_Missense_Mutation_p.M123V|MEIS3_uc002pgp.3_Missense_Mutation_p.M156V|MEIS3_uc002pgr.3_Missense_Mutation_p.M192V|MEIS3_uc002pgs.3_Missense_Mutation_p.M370V|MEIS3_uc002pgt.3_Missense_Mutation_p.M307V|MEIS3_uc010eld.3_Missense_Mutation_p.M370V	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN	Homo sapiens Meis homeobox 3 (MEIS3), transcript variant 2, mRNA.	324						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		TGATCGATCATAGGTTGCACG	0.607													5	8					0	0	1	0	0	C	47910360	T	C	47910360	3	2	155	1	0	0	0	0	1	0	0	0	9469	1406	49	3	169	3	MEIS3	19	47910360	Missense_Mutation	SNP	T	TCGA-FG-A4MX-01A-11D-A26M-08	30065153	47910360	11218623	17	7015											
MN1	4330	broad.mit.edu	37	chr22	28194934	28194936	+	In_Frame_Del	DEL	TGC	TGC	-																															gctgctgctgctgctgctgtTgctgctgctgctgctgctgc																								rs45480998		TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr22:28194934_28194936delTGC	uc003adj.3	-	0	2551_2553	c.1596_1598delGCA	c.(1594-1599)cagcaa>caa	p.532_533QQ>Q		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	532	Poly-Gln.						binding	p.Q532Q(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						ctgctgctgttgctgctgctgct	0.65			T	ETV6	"AML, meningioma"								3	5	---	---	---	---						-	28194936	TGC	-	28194934	7	5	155	1	0	1	0	1	0	0	0	0	9673	1812	63	0	2372	0	MN1	22	28194934	In_Frame_Del	DEL	TGC	TCGA-FG-A4MX-01A-11D-A26M-08		28194934	23109632	18	7016											
EIF3L	51386	broad.mit.edu	37	chr22	38258980	38258980	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttgttttctttacagggggGaccttccttggagcagaggt	6	14	13	8	0	1	1	0	0	1	1	2	3	2	3	2	5	2	2	2	5	1	7			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr22:38258980G>A	uc003auf.3	+	5	518	c.440G>A	c.(439-441)gGa>gAa	p.G147E	EIF3L_uc011ann.2_Intron|EIF3L_uc003aug.3_Missense_Mutation_p.G39E	NM_016091	NP_057175	Q9Y262	EIF3L_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit L (EIF3L), transcript variant 1, mRNA.	147						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TTACAGGGGGGACCTTCCTTG	0.388													33	35					0	0	1	0	0	A	38258980	G	A	38258980	3	1	155	1	0	0	0	0	1	0	0	0	5022	1174	41	3	462	3	EIF3L	22	38258980	Missense_Mutation	SNP	G	TCGA-FG-A4MX-01A-11D-A26M-08	10064046	38258980	13045586	19	7017											
ATRX	546	broad.mit.edu	37	chrX	76855965	76855965	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgagtccatattctacttaAcatctgaaaatcttggaaaa	16	13	5	7	0	3	2	0	2	3	0	4	3	4	3	1	1	2	0	1	1	7	5			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chrX:76855965A>C	uc004ecp.4	-	22	5867	c.5635T>G	c.(5635-5637)Tta>Gta	p.L1879V	ATRX_uc004ecq.4_Missense_Mutation_p.L1841V|ATRX_uc004eco.4_Missense_Mutation_p.L1664V	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1879					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATTCTACTTAACATCTGAAAA	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						51	10					0	0	1	0	0	C	76855965	A	C	76855965	3	2	155	1	0	0	0	0	1	0	0	0	1208	40	2	5	1895	5	ATRX	23	76855965	Missense_Mutation	SNP	A	TCGA-FG-A4MX-01A-11D-A26M-08		76855965	78414595	20	7018											
PCDH19	57526	broad.mit.edu	37	chrX	99551565	99551565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagccattgcctgcctcccGgataacgctgttgaccttgg	7	10	10	14	2	0	1	0	1	0	0	1	2	1	2	5	2	4	2	5	2	1	4			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chrX:99551565G>A	uc010nmz.3	-	5	4833	c.3157C>T	c.(3157-3159)Cgg>Tgg	p.R1053W	PCDH19_uc004efw.4_Missense_Mutation_p.R1005W|PCDH19_uc004efx.4_Missense_Mutation_p.R1006W	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	1053					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CCTGCCTCCCGGATAACGCTG	0.592													3	24					0	0	1	0	0	A	99551565	G	A	99551565	3	1	155	1	0	0	0	0	1	0	0	0	11514	1115	39	2	293	2	PCDH19	23	99551565	Missense_Mutation	SNP	G	TCGA-FG-A4MX-01A-11D-A26M-08	22695600	99551565	55718995	21	7019											
PDE4DIP	9659	broad.mit.edu	37	chr1	144856852	144856852	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggccagggaagctgcaCgctgatctcacaagagacac	13	5	11	12	1	2	2	2	1	1	1	3	4	2	3	1	2	2	3	1	2	3	0	rs150847495	byFrequency	TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr1:144856852C>T	uc021ouh.1	-	39	6935	c.6633G>A	c.(6631-6633)gcG>gcA	p.A2211A	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.A2211A|PDE4DIP_uc001elx.4_Silent_p.A2105A|PDE4DIP_uc001elv.4_Silent_p.A1218A	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	2211					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding	p.A2211A(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGAAGCTGCACGCTGATCTCA	0.502			T	PDGFRB	MPD								3	8					0	0	1	0	0	T	144856852	C	T	144856852	2	4	156	1	0	0	0	0	0	0	0	1	11643	523	19	1		1	PDE4DIP	1	144856852	Silent	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08		144856852	104393769	1	7020											
TTN	7273	broad.mit.edu	37	chr2	179592490	179592490	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatcatccttaaaccatttTattttaaatggtggtgttcc	11	17	5	8	0	1	0	1	0	0	0	3	0	3	0	3	2	1	1	3	2	5	6			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr2:179592490T>C	uc021vsy.1	-	64	16308	c.16083A>G	c.(16081-16083)atA>atG	p.I5361M	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I2022M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6288	Ig-like 34.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAACCATTTTATTTTAAATG	0.413													8	92					0	0	1	0	0	C	179592490	T	C	179592490	3	2	156	1	0	0	0	0	1	0	0	0	16732	1744	61	3	84894	3	TTN	2	179592490	Missense_Mutation	SNP	T	TCGA-FG-A4MY-01A-11D-A26M-08		179592490	63606883	2	7021											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								8	23					0	0	1	0	0	T	209113112	C	T	209113112	3	4	156	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08	29520622	209113112	34086261	3	7022											
ALPP	250	broad.mit.edu	37	chr2	233243710	233243710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacccggacttctggaacCgcgaggcagccgaggccctg	9	4	14	14	4	1	1	0	0	1	1	1	5	1	3	4	4	3	1	4	4	2	1			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr2:233243710C>T	uc002vsq.3	+	1	271	c.106C>T	c.(106-108)Cgc>Tgc	p.R36C		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	36						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CTTCTGGAACCGCGAGGCAGC	0.632													9	97					0	0	1	0	0	T	233243710	C	T	233243710	3	4	156	1	0	0	0	0	1	0	0	0	548	652	23	2	112	2	ALPP	2	233243710	Missense_Mutation	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08	24130598	233243710	9955663	4	7023											
FANCD2	2177	broad.mit.edu	37	chr3	10083383	10083383	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcctccgacttgacccaaacTtcctattgaaggtagaaaag	13	9	8	11	1	0	3	0	2	0	1	2	4	2	3	4	1	1	1	4	1	6	5			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr3:10083383T>G	uc003buw.3	+	9	850	c.772T>G	c.(772-774)Ttc>Gtc	p.F258V	FANCD2_uc003bux.1_Missense_Mutation_p.F258V|FANCD2_uc003buy.1_Missense_Mutation_p.F258V	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	258	Interaction with BRCA2.|Interaction with FANCE.				DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGACCCAAACTTCCTATTGAA	0.438			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				11	25					0	0	1	0	0	G	10083383	T	G	10083383	3	3	156	1	0	0	0	0	1	0	0	0	5665	1609	56	5	806	5	FANCD2	3	10083383	Missense_Mutation	SNP	T	TCGA-FG-A4MY-01A-11D-A26M-08		10083383	187939047	5	7024											
SEMA3B	7869	broad.mit.edu	37	chr3	50313252	50313252	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggagtggactttccagcgcGcaggggtgacagcccacacc	8	6	14	13	2	0	1	0	1	0	0	1	3	1	3	3	4	2	1	3	4	0	1			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr3:50313252G>T	uc003cyu.3	+	17	2061	c.1819G>T	c.(1819-1821)Gca>Tca	p.A607S	SEMA3B_uc003cyt.3_Missense_Mutation_p.A606S|SEMA3B_uc003cyv.3_Missense_Mutation_p.A495S|SEMA3B_uc003cyw.3_Missense_Mutation_p.A331S|SEMA3B_uc010hli.3_Missense_Mutation_p.A500S|SEMA3B_uc003cyx.3_Missense_Mutation_p.A494S|SEMA3B_uc003cyy.3_Missense_Mutation_p.A265S|SEMA3B_uc011bdo.2_Missense_Mutation_p.A265S	NM_004636	NP_004627	Q13214	SEM3B_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B (SEMA3B), transcript variant 1, mRNA.	608	Ig-like C2-type.				axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TTTCCAGCGCGCAGGGGTGAC	0.692													10	26					1.58986e-06	1.68923e-06	1	1	0	T	50313252	G	T	50313252	3	4	156	1	0	0	0	0	1	0	0	0	14025	1087	38	5	1883	5	SEMA3B	3	50313252	Missense_Mutation	SNP	G	TCGA-FG-A4MY-01A-11D-A26M-08	40229869	50313252	147709178	6	7025											
EIF4G1	1981	broad.mit.edu	37	chr3	184042736	184042736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcccggcggcgctctttagGgaatatcaagtttattggag	9	11	13	8	3	2	0	1	0	1	0	2	2	2	2	1	4	1	2	1	4	5	6			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr3:184042736G>A	uc003fnp.3	+	17	2961	c.2690G>A	c.(2689-2691)gGg>gAg	p.G897E	EIF4G1_uc003fno.2_Missense_Mutation_p.G838E|EIF4G1_uc010hxw.2_Missense_Mutation_p.G733E|EIF4G1_uc010hxx.3_Missense_Mutation_p.G904E|EIF4G1_uc003fnt.3_Missense_Mutation_p.G608E|EIF4G1_uc010hxy.3_Missense_Mutation_p.G904E|EIF4G1_uc003fnq.3_Missense_Mutation_p.G810E|EIF4G1_uc003fnr.3_Missense_Mutation_p.G733E|EIF4G1_uc003fns.3_Missense_Mutation_p.G857E|EIF4G1_uc003fnv.4_Missense_Mutation_p.G898E|EIF4G1_uc003fnw.3_Missense_Mutation_p.G904E|EIF4G1_uc003fnx.3_Missense_Mutation_p.G702E|SNORD66_uc003fnz.3_5'Flank	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	897	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGCTCTTTAGGGAATATCAAG	0.483													22	52					0	0	1	0	0	A	184042736	G	A	184042736	3	1	156	1	0	0	0	0	1	0	0	0	5036	1232	43	3	2752	3	EIF4G1	3	184042736	Missense_Mutation	SNP	G	TCGA-FG-A4MY-01A-11D-A26M-08	133729484	184042736	13979694	7	7026											
LETM1	3954	broad.mit.edu	37	chr4	1836604	1836604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagagaagtctttggtggCgctgcccttggctgccttgt	5	12	13	11	1	1	1	0	0	1	1	1	2	1	1	2	3	2	2	2	3	1	3			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr4:1836604C>T	uc003gdv.3	-	4	1141	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	LETM1_uc010icc.3_Missense_Mutation_p.A62T|LETM1_uc011bvg.2_Missense_Mutation_p.A282T	NM_012318	NP_036450	O95202	LETM1_HUMAN	Homo sapiens leucine zipper-EF-hand containing transmembrane protein 1 (LETM1), nuclear gene encoding mitochondrial protein, mRNA.	282	LETM1.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TCTTTGGTGGCGCTGCCCTTG	0.547													12	81					0	0	1	0	0	T	1836604	C	T	1836604	3	4	156	1	0	0	0	0	1	0	0	0	8734	768	27	1	1415	1	LETM1	4	1836604	Missense_Mutation	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08		1836604	189317672	8	7027											
ANKRD50	57182	broad.mit.edu	37	chr4	125590681	125590681	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgactccactcaaattcacTacttggtgaattatgactct	11	15	5	10	0	3	3	2	3	1	0	4	3	4	3	1	1	1	0	1	1	4	5			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr4:125590681T>C	uc010inw.3	-	3	4789	c.3751A>G	c.(3751-3753)Agt>Ggt	p.S1251G	ANKRD50_uc011cgo.2_Missense_Mutation_p.S1072G	NM_020337	NP_001161354	Q9ULJ7	ANR50_HUMAN	Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA.	1251	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TCAAATTCACTACTTGGTGAA	0.433													22	66					0	0	1	0	0	C	125590681	T	C	125590681	3	2	156	1	0	0	0	0	1	0	0	0	677	1522	53	4	542	4	ANKRD50	4	125590681	Missense_Mutation	SNP	T	TCGA-FG-A4MY-01A-11D-A26M-08	123754077	125590681	65563595	9	7028											
FAF2	23197	broad.mit.edu	37	chr5	175913383	175913384	+	Frame_Shift_Ins	INS	-	-	A																															acaggacagattgaatgagcINSaagagggcgtacctagtgtt																										TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr5:175913383_175913384insA	uc003mej.4	+	2	213_214	c.160_161insA	c.(160-162)caafs	p.Q54fs		NM_014613	NP_055428	Q96CS3	FAF2_HUMAN	Homo sapiens Fas associated factor family member 2 (FAF2), mRNA.	54					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						ATTGAATGAGCAAGAGGGCGTA	0.485													10	53	---	---	---	---						A	175913384	-	A	175913383	7	5	156	1	0	1	1	0	0	0	0	0	5370	711	25	0	170	0	FAF2	5	175913383	Frame_Shift_Ins	INS	-	TCGA-FG-A4MY-01A-11D-A26M-08		175913383	5001877	10	7029											
AARS2	57505	broad.mit.edu	37	chr6	44269151	44269151	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagagactgtgtccacaatCagaggccccttcgagtgccg	9	7	12	13	2	1	2	1	0	0	2	3	4	2	2	4	1	1	1	4	1	1	1			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr6:44269151C>G	uc010jza.1	-	19	2652	c.2649G>C	c.(2647-2649)ctG>ctC	p.L883L	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2), nuclear gene encoding mitochondrial protein, mRNA.	883					alanyl-tRNA aminoacylation	mitochondrion	ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	TGTCCACAATCAGAGGCCCCT	0.602													11	172					0	0	1	0	0	G	44269151	C	G	44269151	2	3	156	1	0	0	0	0	0	0	0	1	20	813	29	5		5	AARS2	6	44269151	Silent	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08		44269151	126845916	11	7030											
COL21A1	81578	broad.mit.edu	37	chr6	55990366	55990366	+	Splice_Site	DEL	T	T	-																															ttgtgtgatctatacttcccTttttgccataaaatccaggt																										TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr6:55990366delT	uc003pcs.3	-	14	1882	c.1650_splice	c.e14+1	p.K550_splice	COL21A1_uc010jzz.3_5'Flank|COL21A1_uc011dxg.2_5'Flank|COL21A1_uc011dxh.2_5'Flank|COL21A1_uc003pct.1_Splice_Site|COL21A1_uc011dxi.1_Splice_Site_p.K550_splice|COL21A1_uc003pcu.1_Splice_Site_p.K547_splice	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	550	Collagen-like 2.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TATACTTCCCTTTTTGCCATA	0.308													2	4	---	---	---	---						-	55990366	T	-	55990366	8	5	156	1	0	1	0	1	0	0	1	0	3680	1623	56	0	1292	0	COL21A1	6	55990366	Splice_Site	DEL	T	TCGA-FG-A4MY-01A-11D-A26M-08	11721215	55990366	115124701	12	7031											
RWDD2A	112611	broad.mit.edu	37	chr6	83904244	83904244	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgttttctatgtttcctaAccaaggagaagtaaaacttg	12	14	8	7	0	1	1	0	0	1	1	2	2	2	1	2	1	2	4	2	1	6	7			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr6:83904244A>G	uc003pjx.4	+	1	345	c.74A>G	c.(73-75)aAc>aGc	p.N25S	PGM3_uc003pju.2_5'Flank|PGM3_uc003pjw.3_5'Flank|PGM3_uc011dyz.2_5'Flank|PGM3_uc021zcd.1_5'Flank|RWDD2A_uc011dza.2_Intron	NM_033411	NP_219479	Q9UIY3	RWD2A_HUMAN	Homo sapiens RWD domain containing 2A (RWDD2A), mRNA.	25	RWD.									cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		ATGTTTCCTAACCAAGGAGAA	0.443													8	17					0	0	1	0	0	G	83904244	A	G	83904244	3	3	156	1	0	0	0	0	1	0	0	0	13755	43	2	3	76	3	RWDD2A	6	83904244	Missense_Mutation	SNP	A	TCGA-FG-A4MY-01A-11D-A26M-08	27913878	83904244	87210823	13	7032											
POU3F2	5454	broad.mit.edu	37	chr6	99282949	99282951	+	In_Frame_Del	DEL	ACG	ACG	-																															gtggatcaccgcgctgtcccAcggcggcggcggcgggggcg																										TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr6:99282949_99282951delACG	uc003ppe.3	+	0	370_372	c.200_202delACG	c.(199-204)cacggc>cgc	p.67_68HG>R		NM_005604	NP_005595	P20265	PO3F2_HUMAN	Homo sapiens POU class 3 homeobox 2 (POU3F2), mRNA.	67					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GCGCTGTCCCAcggcggcggcgg	0.793													2	4	---	---	---	---						-	99282951	ACG	-	99282949	7	5	156	1	0	1	0	1	0	0	0	0	12275	159	6	0	202	0	POU3F2	6	99282949	In_Frame_Del	DEL	ACG	TCGA-FG-A4MY-01A-11D-A26M-08	15378705	99282949	71832118	14	7033											
PLEKHG1	57480	broad.mit.edu	37	chr6	151055100	151055100	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgcagtggagagtggacTcaaacggggcacccaagacg	12	3	16	10	3	1	2	1	0	0	2	1	5	1	3	1	4	2	2	1	4	2	0			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr6:151055100T>C	uc011eem.1	+	1	548	c.460T>C	c.(460-462)Tca>Cca	p.S154P	PLEKHG1_uc011eel.1_Missense_Mutation_p.S135P|PLEKHG1_uc003qny.1_Missense_Mutation_p.S95P|PLEKHG1_uc003qnz.2_Missense_Mutation_p.S95P	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	95	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GAGAGTGGACTCAAACGGGGC	0.587													12	38					0	0	1	0	0	C	151055100	T	C	151055100	3	2	156	1	0	0	0	0	1	0	0	0	12068	1551	54	4	285	4	PLEKHG1	6	151055100	Missense_Mutation	SNP	T	TCGA-FG-A4MY-01A-11D-A26M-08	51772151	151055100	20059967	15	7034											
PMS2	5395	broad.mit.edu	37	chr7	6017340	6017340	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctggggtccgaaggtccagTttttactagttggcaaggaa	9	11	13	8	1	0	0	0	0	0	0	2	2	2	1	3	5	1	3	3	5	5	5	rs146118239	by1000genomes	TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr7:6017340T>C	uc003spl.3	-	13	2411	c.2324A>G	c.(2323-2325)aAc>aGc	p.N775S	PMS2_uc003spj.3_Missense_Mutation_p.N669S|PMS2_uc003spk.3_Missense_Mutation_p.N640S|PMS2_uc011jwl.2_Missense_Mutation_p.N640S|PMS2_uc010ktg.3_Missense_Mutation_p.N464S|PMS2_uc010kte.3_Missense_Mutation_p.N374S|PMS2_uc010ktf.2_Missense_Mutation_p.T562A	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	775			N -> S (in dbSNP:rs17420802).		mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GAAGGTCCAGTTTTTACTAGT	0.478			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				6	56					0	0	1	0	0	C	6017340	T	C	6017340	3	2	156	1	0	0	0	0	1	0	0	0	12143	1725	60	3	272	3	PMS2	7	6017340	Missense_Mutation	SNP	T	TCGA-FG-A4MY-01A-11D-A26M-08		6017340	153121323	16	7035											
ABCA13	154664	broad.mit.edu	37	chr7	48312200	48312200	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatgaattattgaatattcaGagtagaggctcttcgttgac	12	15	9	5	1	2	5	1	3	1	2	3	5	2	5	0	1	0	3	0	1	6	8			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr7:48312200G>C	uc003toq.2	+	16	2961	c.2937G>C	c.(2935-2937)caG>caC	p.Q979H	ABCA13_uc010kyr.2_Missense_Mutation_p.Q482H|ABCA13_uc022acp.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	979					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGAATATTCAGAGTAGAGGCT	0.308													3	21					0	0	1	0	0	C	48312200	G	C	48312200	3	2	156	1	0	0	0	0	1	0	0	0	31	933	33	5	2832	5	ABCA13	7	48312200	Missense_Mutation	SNP	G	TCGA-FG-A4MY-01A-11D-A26M-08	42294860	48312200	110826463	17	7036											
PAPPA	5069	broad.mit.edu	37	chr9	119144692	119144692	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcccttcatgggagacaatTattgtgatgccatcaacaac	13	10	8	10	0	2	2	2	1	0	1	2	3	2	2	2	1	4	0	2	1	4	3			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr9:119144692T>A	uc004bjn.3	+	20	5077	c.4696T>A	c.(4696-4698)Tat>Aat	p.Y1566N	PAPPA_uc011lxq.2_Missense_Mutation_p.Y941N	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1566					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGGAGACAATTATTGTGATGC	0.527													9	88					0	0	1	0	0	A	119144692	T	A	119144692	3	1	156	1	0	0	0	0	1	0	0	0	11432	1754	61	5	4778	5	PAPPA	9	119144692	Missense_Mutation	SNP	T	TCGA-FG-A4MY-01A-11D-A26M-08		119144692	22068739	18	7037											
VAV2	7410	broad.mit.edu	37	chr9	136641200	136641200	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggcggccggctgatgggCggctggtggcagagcacaag	7	5	20	9	3	0	2	0	1	0	1	0	3	0	2	1	7	1	4	1	7	1	0	rs150295787		TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr9:136641200C>T	uc004ces.3	-	23	2014	c.1968G>A	c.(1966-1968)ccG>ccA	p.P656P	VAV2_uc004cer.3_Silent_p.P646P|VAV2_uc004cet.1_Silent_p.P195P	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	Homo sapiens vav 2 guanine nucleotide exchange factor (VAV2), transcript variant 1, mRNA.	656					angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|metal ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GGCTGATGGGCGGCTGGTGGC	0.617													21	56					0	0	1	0	0	T	136641200	C	T	136641200	2	4	156	1	0	0	0	0	0	0	0	1	17129	755	27	1		1	VAV2	9	136641200	Silent	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08	17496508	136641200	4572231	19	7038											
PTPRJ	5795	broad.mit.edu	37	chr11	48152190	48152190	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggtggcttgttccctggaAccaagtattgctttgaaata	9	15	10	7	0	0	1	0	1	0	0	1	2	1	2	2	3	2	4	2	3	5	7			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr11:48152190A>G	uc001ngp.4	+	7	1892	c.1537A>G	c.(1537-1539)Acc>Gcc	p.T513A	PTPRJ_uc001ngo.4_Missense_Mutation_p.T513A	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	513	Fibronectin type-III 5.				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GTTCCCTGGAACCAAGTATTG	0.428													10	11					0	0	1	0	0	G	48152190	A	G	48152190	3	3	156	1	0	0	0	0	1	0	0	0	12804	43	2	3	1567	3	PTPRJ	11	48152190	Missense_Mutation	SNP	A	TCGA-FG-A4MY-01A-11D-A26M-08		48152190	86854326	20	7039											
A2M	2	broad.mit.edu	37	chr12	9232315	9232315	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagataatccagtacatagAtgttaggagcaaagaggacc	16	9	10	6	0	0	3	0	0	0	3	1	5	1	5	2	2	2	3	2	2	6	5			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr12:9232315A>C	uc001qvk.1	-	23	3064	c.2951T>G	c.(2950-2952)aTc>aGc	p.I984S	A2M_uc009zgk.1_Missense_Mutation_p.I834S	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	984					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CAGTACATAGATGTTAGGAGC	0.433													7	12					0	0	1	0	0	C	9232315	A	C	9232315	3	2	156	1	0	0	0	0	1	0	0	0	4	333	12	5	1525	5	A2M	12	9232315	Missense_Mutation	SNP	A	TCGA-FG-A4MY-01A-11D-A26M-08		9232315	124619580	21	7040											
GPR133	283383	broad.mit.edu	37	chr12	131466566	131466566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgtggagctgtatacgCgggacaattccatgacatgg	9	10	13	9	2	1	1	0	1	1	0	2	3	2	3	1	3	2	3	1	3	3	3	rs144030317		TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr12:131466566C>T	uc010tbm.2	+	5	1103	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	GPR133_uc001uit.4_Missense_Mutation_p.R150W	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	150					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R150W(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GCTGTATACGCGGGACAATTC	0.587													14	45					0	0	1	0	0	T	131466566	C	T	131466566	3	4	156	1	0	0	0	0	1	0	0	0	6643	759	27	1	466	1	GPR133	12	131466566	Missense_Mutation	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08	122234251	131466566	2385329	22	7041											
EIF4A1	1973	broad.mit.edu	37	chr17	7481686	7481686	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgaggtggacggtttggccGtaaaggtgtggctattaaca	9	11	15	6	3	0	0	0	0	0	0	1	2	0	1	1	6	1	3	1	6	4	4			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr17:7481686G>A	uc002gho.2	+	21	3666	c.1103G>A	c.(1102-1104)cGt>cAt	p.R368H	EIF4A1_uc002ghr.1_Silent_p.P347P|EIF4A1_uc021tpc.1_5'Flank|CD68_uc002ghu.3_5'Flank|CD68_uc002ghv.3_5'Flank	NM_001416	NP_001407	P60842	IF4A1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4A1 (EIF4A1), transcript variant 1, mRNA.	368	Helicase C-terminal.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|RNA cap binding|mRNA binding|protein binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						CGGTTTGGCCGTAAAGGTGTG	0.507													8	81					0	0	1	0	0	A	7481686	G	A	7481686	3	1	156	1	0	0	0	0	1	0	0	0	5024	1145	40	1	1145	1	EIF4A1	17	7481686	Missense_Mutation	SNP	G	TCGA-FG-A4MY-01A-11D-A26M-08		7481686	73713524	23	7042											
TP53	7157	broad.mit.edu	37	chr17	7578403	7578403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcgctcatggtgggggCagcgcctcacaacctccgtc	7	6	13	15	3	2	0	2	0	0	0	4	0	3	0	3	3	4	3	3	3	1	0			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr17:7578403C>T	uc002gim.2	-	4	721	c.527G>A	c.(526-528)tGc>tAc	p.C176Y	TP53_uc002gig.1_Missense_Mutation_p.C176Y|TP53_uc002gih.3_Missense_Mutation_p.C176Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C44Y|TP53_uc010cnf.1_Missense_Mutation_p.C44Y|TP53_uc002gii.1_Missense_Mutation_p.C44Y|TP53_uc010cni.1_Missense_Mutation_p.C176Y|TP53_uc010cnh.1_Missense_Mutation_p.C176Y|TP53_uc002gij.2_Missense_Mutation_p.C176Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C83Y|TP53_uc002gio.2_Missense_Mutation_p.C44Y|TP53_uc010vug.2_Missense_Mutation_p.C137Y	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	176	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(807)|p.C176F(241)|p.C176Y(122)|p.C176S(27)|p.R175L(19)|p.R175G(15)|p.R175C(15)|p.C176R(12)|p.C176W(11)|p.C83F(9)|p.C44F(9)|p.0?(8)|p.C176*(8)|p.C176fs*71(7)|p.R175P(6)|p.C176_R181delCPHHER(6)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.C176G(4)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.C176fs*5(3)|p.V157_C176del20(2)|p.C176fs*65(2)|p.C176_P177delCP(2)|p.C176fs*68(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R175fs*5(2)|p.R174_C176delRRC(2)|p.V173fs*59(2)|p.C176del(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.C176fs*72(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.R81fs*24(1)|p.C176fs*6(1)|p.H178fs*3(1)|p.R174fs*3(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)		ATGGTGGGGGCAGCGCCTCAC	0.652		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)			24	16					0	0	1	0	0	T	7578403	C	T	7578403	3	4	156	1	0	0	0	0	1	0	0	0	16378	710	25	3	771	3	TP53	17	7578403	Missense_Mutation	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08	96717	7578403	73616807	24	7043											
KIF2B	84643	broad.mit.edu	37	chr17	51901156	51901156	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagtccaagcaaaaggtggaCctcactcgctacctgcagaa	13	6	10	12	1	1	1	1	0	0	1	3	3	2	2	3	2	3	3	3	2	5	1			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr17:51901156C>A	uc002iua.2	+	0	918	c.762C>A	c.(760-762)gaC>gaA	p.D254E	KIF2B_uc010wna.1_Intron	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	254	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.D254Y(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAAAGGTGGACCTCACTCGCT	0.547													10	31					0.000673444	0.000700932	1	1	0	A	51901156	C	A	51901156	3	1	156	1	0	0	0	0	1	0	0	0	8298	506	18	5	764	5	KIF2B	17	51901156	Missense_Mutation	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08	44322753	51901156	29294054	25	7044											
TMEM104	54868	broad.mit.edu	37	chr17	72791232	72791232	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgctgctgccgtgcccttctCcctcatgcaggtgacctggt	3	12	11	15	1	2	1	1	1	1	0	3	1	2	1	4	2	5	3	4	2	0	1			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr17:72791232C>G	uc002jls.4	+	6	671	c.509C>G	c.(508-510)tCc>tGc	p.S170C	TMEM104_uc010wrf.1_Missense_Mutation_p.S170C|TMEM104_uc010wrg.1_Missense_Mutation_p.S183C|TMEM104_uc010dfx.3_Missense_Mutation_p.S170C	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	Homo sapiens transmembrane protein 104 (TMEM104), mRNA.	170						integral to membrane		p.S170S(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GTGCCCTTCTCCCTCATGCAG	0.567													8	23					0	0	1	0	0	G	72791232	C	G	72791232	3	3	156	1	0	0	0	0	1	0	0	0	16015	855	30	5	531	5	TMEM104	17	72791232	Missense_Mutation	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08	20890076	72791232	8403978	26	7045											
PHLPP1	23239	broad.mit.edu	37	chr18	60646563	60646565	+	In_Frame_Del	DEL	CAG	CAG	-																															tgaagcatcaccaggagcaaCagcagcagcagcagccgcca																										TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr18:60646563_60646565delCAG	uc021ule.1	+	16	5298_5300	c.5053_5055delCAG	c.(5053-5055)cagdel	p.Q1689del		NM_194449	NP_919431	O60346	PHLP1_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 1 (PHLPP1), mRNA.	1689	Poly-Gln.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						ccaggagcaacagcagcagcagc	0.586													2	4	---	---	---	---						-	60646565	CAG	-	60646563	7	5	156	1	0	1	0	1	0	0	0	0	11854	479	17	0	5119	0	PHLPP1	18	60646563	In_Frame_Del	DEL	CAG	TCGA-FG-A4MY-01A-11D-A26M-08		60646563	17430685	27	7046											
TAB1	10454	broad.mit.edu	37	chr22	39772048	39772049	+	Frame_Shift_Ins	INS	-	-	C																															tattctgcccggtcctgggaINSccccccagccttctgggctt																										TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr22:39772048_39772049insC	uc003axr.3	+	1	1889_1890	c.107_108insC	c.(106-108)gacfs	p.D36fs	TAB1_uc003axo.4_Intron|TAB1_uc003axq.4_Intron|TAB1_uc003axs.4_Intron	NM_006116	NP_006107	Q15750	TAB1_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 1 (TAB1), transcript variant alpha, mRNA.	0					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CGGTCCTGGGACCCCCCAGCCT	0.594													16	126	---	---	---	---						C	39772049	-	C	39772048	7	5	156	1	0	1	1	0	0	0	0	0	15492	290	10	0		0	TAB1	22	39772048	Frame_Shift_Ins	INS	-	TCGA-FG-A4MY-01A-11D-A26M-08		39772048	11532518	28	7047											
DMD	1756	broad.mit.edu	37	chrX	32456488	32456488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgggttatcctctgaatgtCgcatcaaattttcaagtgac	10	15	8	8	1	3	2	2	2	1	0	5	2	4	2	1	1	0	2	1	1	4	4			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:32456488C>T	uc004dda.1	-	28	4185	c.3941G>A	c.(3940-3942)cGa>cAa	p.R1314Q	DMD_uc004dcz.2_Missense_Mutation_p.R1191Q|DMD_uc004dcy.1_Missense_Mutation_p.R1310Q|DMD_uc004ddb.1_Missense_Mutation_p.R1306Q|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1314					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTCTGAATGTCGCATCAAATT	0.363													6	11					0	0	1	0	0	T	32456488	C	T	32456488	3	4	156	1	0	0	0	0	1	0	0	0	4580	884	31	2	7563	2	DMD	23	32456488	Missense_Mutation	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08		32456488	122814072	29	7048											
GAGE2B	645037	broad.mit.edu	37	chrX	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT																															gttggcgaggaagatcgaccINStatcggcctagaccaagacg																										TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:49208295_49208296insTAT	uc004dnv.4	+	1	140_141	c.24_25insTAT	c.(22-27)insTAT	p.9_10insY	GAGE2B_uc004dnl.4_Intron|GAGE2B_uc022bwc.1_Intron|GAGE2B_uc011mne.2_Intron|GAGE2B_uc004dnn.4_Intron|GAGE2B_uc011mnf.2_Intron|GAGE2B_uc004dnq.4_Intron|GAGE2B_uc004dnr.4_Intron|GAGE2B_uc004dnk.4_Intron|GAGE2B_uc004dno.4_Intron|GAGE2B_uc004dnp.4_Intron|GAGE2B_uc010njc.3_In_Frame_Ins_p.9_10insY|GAGE2B_uc004dnt.4_In_Frame_Ins_p.9_10insY|GAGE2B_uc004dnu.4_In_Frame_Ins_p.9_10insY	NM_001127212	NP_001091881			Homo sapiens G antigen 2A (GAGE2A), mRNA.																		GAAGATCGACCTATCGGCCTAG	0.465													3	5	---	---	---	---						TAT	49208296	-	TAT	49208295	7	5	156	1	0	1	1	0	0	0	0	0	6191	668	24	0		0	GAGE2B	23	49208295	In_Frame_Ins	INS	-	TCGA-FG-A4MY-01A-11D-A26M-08	16751807	49208295	106062265	30	7049											
MED12	9968	broad.mit.edu	37	chrX	70341257	70341257	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccctggagaggatgaattGcttaaactgctgctgcctct	8	11	11	11	1	1	2	0	1	1	1	1	4	1	3	2	2	5	3	2	2	3	2			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:70341257G>T	uc004dyy.3	+	5	1015	c.816G>T	c.(814-816)ttG>ttT	p.L272F	MED12_uc011mpq.1_Missense_Mutation_p.L272F|MED12_uc004dyz.3_Missense_Mutation_p.L272F|MED12_uc004dza.3_Missense_Mutation_p.L119F	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	272					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AGGATGAATTGCTTAAACTGC	0.498			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						7	68					0.00307968	0.00314127	1	1	0	T	70341257	G	T	70341257	3	4	156	1	0	0	0	0	1	0	0	0	9428	1310	46	5	838	5	MED12	23	70341257	Missense_Mutation	SNP	G	TCGA-FG-A4MY-01A-11D-A26M-08	21132962	70341257	84929303	31	7050											
ATRX	546	broad.mit.edu	37	chrX	76874425	76874425	+	Frame_Shift_Del	DEL	T	T	-																															tggatccaagtaaattttccTtgataaaattaaccatacaa																										TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:76874425delT	uc004ecp.4	-	20	5529	c.5297delA	c.(5296-5298)aagfs	p.K1766fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K1728fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K1551fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1766	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TAAATTTTCCTTGATAAAATT	0.313			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						6	11	---	---	---	---						-	76874425	T	-	76874425	7	5	156	1	0	1	0	1	0	0	0	0	1208	1609	56	0	2241	0	ATRX	23	76874425	Frame_Shift_Del	DEL	T	TCGA-FG-A4MY-01A-11D-A26M-08	6533168	76874425	78396135	32	7051											
SYTL4	94121	broad.mit.edu	37	chrX	99931059	99931059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgcttggccattgaggaaCggagctgcagagtcccttct	7	11	12	11	1	2	2	0	1	2	1	3	4	3	4	2	3	4	3	2	3	1	3	rs139707843	byFrequency	TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:99931059C>T	uc004egd.4	-	18	2338	c.1982G>A	c.(1981-1983)cGt>cAt	p.R661H	SYTL4_uc004egc.3_Missense_Mutation_p.R92H|SYTL4_uc010nnb.3_Missense_Mutation_p.R333H|SYTL4_uc010nnc.3_Missense_Mutation_p.R661H|SYTL4_uc004ege.4_Missense_Mutation_p.R661H|SYTL4_uc004egf.4_Missense_Mutation_p.R661H	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	661					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CATTGAGGAACGGAGCTGCAG	0.567													5	14					0	0	1	0	0	T	99931059	C	T	99931059	3	4	156	1	0	0	0	0	1	0	0	0	15482	536	19	1	37	1	SYTL4	23	99931059	Missense_Mutation	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08	23056634	99931059	55339501	33	7052											
PAK3	5063	broad.mit.edu	37	chrX	110385328	110385328	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacattttgcctttagccaaTaagaagaaggagaaagagcg	17	8	10	6	1	0	4	0	0	0	4	0	5	0	4	2	1	4	0	2	1	7	5			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:110385328T>C	uc010npv.1	+	1	207	c.180T>C	c.(178-180)aaT>aaC	p.N60N	PAK3_uc010npt.1_Silent_p.N60N|PAK3_uc010npu.1_Silent_p.N60N|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Silent_p.N60N|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_Silent_p.N60N|PAK3_uc004epa.2_Silent_p.N60N	NM_001128168	NP_001121640	O75914	PAK3_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA.	60					multicellular organismal development		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CTTTAGCCAATAAGAAGAAGG	0.388										TSP Lung(19;0.15)			20	64					0	0	1	0	0	C	110385328	T	C	110385328	2	2	156	1	0	0	0	0	0	0	0	1	11402	1403	49	3		3	PAK3	23	110385328	Silent	SNP	T	TCGA-FG-A4MY-01A-11D-A26M-08	10454269	110385328	44885232	34	7053											
MBNL3	55796	broad.mit.edu	37	chrX	131520820	131520820	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctctttggtatcagttgcAgtgtaccaggctgcagggcc	7	12	12	10	0	2	0	1	0	1	0	3	0	2	0	2	3	3	6	2	3	2	4			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:131520820A>G	uc004ewv.4	-	4	1494	c.791T>C	c.(790-792)cTg>cCg	p.L264P	AK095439_uc004ewr.1_Intron|MBNL3_uc004eww.3_Missense_Mutation_p.L168P|MBNL3_uc004ewt.3_Missense_Mutation_p.L214P|MBNL3_uc004ewx.2_Missense_Mutation_p.L214P|MBNL3_uc011muz.2_Missense_Mutation_p.L168P|MBNL3_uc004ewu.4_Intron	NM_018388	NP_001164175	Q9NUK0	MBNL3_HUMAN	Homo sapiens muscleblind-like 3 (Drosophila) (MBNL3), transcript variant 1, mRNA.	264					RNA splicing|mRNA processing|multicellular organismal development|regulation of RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					TATCAGTTGCAGTGTACCAGG	0.488													19	42					0	0	1	0	0	G	131520820	A	G	131520820	3	3	156	1	0	0	0	0	1	0	0	0	9355	188	7	4	350	4	MBNL3	23	131520820	Missense_Mutation	SNP	A	TCGA-FG-A4MY-01A-11D-A26M-08	21135492	131520820	23749740	35	7054											
MAGEC2	51438	broad.mit.edu	37	chrX	141291734	141291734	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgaggtcggggagtcgtTgtcaacgttgcggaatggaa	10	9	16	6	4	1	1	1	1	0	0	3	4	1	4	0	5	3	2	0	5	4	2			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:141291734T>C	uc022cfj.1	-	0	40	c.40A>G	c.(40-42)Aac>Gac	p.N14D	MAGEC2_uc004fbu.2_Missense_Mutation_p.N14D	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	14						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAGTCGTTGTCAACGTTG	0.522										HNSCC(46;0.14)			17	100					0	0	1	0	0	C	141291734	T	C	141291734	3	2	156	1	0	0	0	0	1	0	0	0	9181	1812	63	3	1085	3	MAGEC2	23	141291734	Missense_Mutation	SNP	T	TCGA-FG-A4MY-01A-11D-A26M-08	9770914	141291734	13978826	36	7055											
TMEM187	8269	broad.mit.edu	37	chrX	153247936	153247936	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcggctggcggccctggctGttcctctctcttgagtgcgt	1	12	14	14	4	2	1	0	1	2	0	4	1	3	1	2	4	1	3	2	4	0	2			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:153247936G>C	uc022cic.1	+	0	423	c.423G>C	c.(421-423)ctG>ctC	p.L141L	TMEM187_uc004fjq.2_Silent_p.L141L|MIR3202-2_uc022cib.1_5'Flank	NM_003492	NP_003483	Q14656	TM187_HUMAN	Homo sapiens transmembrane protein 187 (TMEM187), mRNA.	141						integral to membrane|transport vesicle				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCCTGGCTGTTCCTCTCTC	0.677													3	10					0	0	1	0	0	C	153247936	G	C	153247936	2	2	156	1	0	0	0	0	0	0	0	1	16106	1364	48	5		5	TMEM187	23	153247936	Silent	SNP	G	TCGA-FG-A4MY-01A-11D-A26M-08	11956202	153247936	2022624	37	7056											
SH2D1B	117157	broad.mit.edu	37	chr1	162381781	162381781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtcttgcttggtcagaCgtccatggtagtaaggcaga	10	10	12	9	1	2	2	1	0	1	2	3	2	3	2	1	3	1	4	1	3	2	4			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr1:162381781C>T	uc001gbz.1	-	0	148	c.26G>A	c.(25-27)cGt>cAt	p.R9H	SH2D1B_uc001gca.1_Missense_Mutation_p.R9H	NM_053282	NP_444512	O14796	SH21B_HUMAN	Homo sapiens SH2 domain containing 1B (SH2D1B), mRNA.	9	SH2.									kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CTTGGTCAGACGTCCATGGTA	0.532													10	74					0	0	1	0	0	T	162381781	C	T	162381781	3	4	157	1	0	0	0	0	1	0	0	0	14231	536	19	1	388	1	SH2D1B	1	162381781	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08		162381781	86868840	1	7057											
OR2M3	127062	broad.mit.edu	37	chr1	248366698	248366698	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctatacatcactgcttggctCtgagtgctttcttttggctg	5	17	9	10	0	3	1	1	1	2	0	3	1	3	1	0	2	3	4	0	2	2	6			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr1:248366698C>G	uc010pzg.2	+	0	329	c.329C>G	c.(328-330)tCt>tGt	p.S110C		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTGCTTGGCTCTGAGTGCTTT	0.458													22	286					0	0	1	0	0	G	248366698	C	G	248366698	3	3	157	1	0	0	0	0	1	0	0	0	11011	913	32	5	331	5	OR2M3	1	248366698	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08	85984917	248366698	883923	2	7058											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								14	43					0	0	1	0	0	T	209113112	C	T	209113112	3	4	157	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08		209113112	34086261	3	7059											
SEC61A1	29927	broad.mit.edu	37	chr3	127786281	127786281	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggacacgtcttctgggggCccagcacgtgcttatccagt	7	9	12	13	2	2	0	0	0	2	0	3	1	3	1	2	3	2	2	2	3	1	2			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr3:127786281C>T	uc003ekb.3	+	9	1177	c.993C>T	c.(991-993)ggC>ggT	p.G331G	RUVBL1_uc003ekf.3_Intron|SEC61A1_uc003ekc.3_Silent_p.G278G|SEC61A1_uc003ekd.3_Silent_p.G211G|SEC61A1_uc003ekg.3_Silent_p.G25G	NM_013336	NP_037468	P61619	S61A1_HUMAN	Homo sapiens Sec61 alpha 1 subunit (S. cerevisiae) (SEC61A1), mRNA.	331					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						CTTCTGGGGGCCCAGCACGTG	0.483													51	97					0	0	1	0	0	T	127786281	C	T	127786281	2	4	157	1	0	0	0	0	0	0	0	1	14000	726	26	3		3	SEC61A1	3	127786281	Silent	SNP	C	TCGA-FG-A60J-01A-11D-A289-08		127786281	70236149	4	7060											
PIK3R4	30849	broad.mit.edu	37	chr3	130463923	130463923	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcacaacgaccaggcctTctcggtgcttggctcgagca	7	9	10	15	3	2	0	1	0	1	0	4	2	2	0	3	3	3	3	3	3	1	3			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr3:130463923T>C	uc003enj.3	-	1	721	c.140A>G	c.(139-141)gAa>gGa	p.E47G		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 4 (PIK3R4), mRNA.	47	Protein kinase.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GACCAGGCCTTCTCGGTGCTT	0.408													16	35					0	0	1	0	0	C	130463923	T	C	130463923	3	2	157	1	0	0	0	0	1	0	0	0	11921	1783	62	3	4012	3	PIK3R4	3	130463923	Missense_Mutation	SNP	T	TCGA-FG-A60J-01A-11D-A289-08	2677642	130463923	67558507	5	7061											
CPZ	8532	broad.mit.edu	37	chr4	8603122	8603122	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggaggtctgccagcccGccttcgacgccattgacatg	6	8	13	14	4	1	1	0	1	1	0	2	3	1	2	4	2	3	0	4	2	0	2			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr4:8603122G>A	uc003glm.3	+	2	568	c.394G>A	c.(394-396)Gcc>Acc	p.A132T	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.A121T|CPZ_uc003gln.3_5'UTR	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	132	FZ.				Wnt receptor signaling pathway|proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTGCCAGCCCGCCTTCGACGC	0.677													5	10					0	0	1	0	0	A	8603122	G	A	8603122	3	1	157	1	0	0	0	0	1	0	0	0	3839	1087	38	1	404	1	CPZ	4	8603122	Missense_Mutation	SNP	G	TCGA-FG-A60J-01A-11D-A289-08		8603122	182551154	6	7062											
TMEM155	132332	broad.mit.edu	37	chr4	122681459	122681459	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actacatttctcagacaatcTtgcagatagcagtagccaat	14	11	6	10	0	2	2	1	0	2	2	3	2	2	2	1	0	4	3	1	0	5	5			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr4:122681459T>A	uc003idx.1	-	5	942	c.383A>T	c.(382-384)aAg>aTg	p.K128M		NM_152399	NP_689612	Q4W5P6	TM155_HUMAN	Homo sapiens transmembrane protein 155 (TMEM155), mRNA.	128						extracellular region				breast(1)|lung(5)	6						tcagacaatcttgcagatagc	0.403													16	28					0	0	1	0	0	A	122681459	T	A	122681459	3	1	157	1	0	0	0	0	1	0	0	0	16069	1609	56	5	13	5	TMEM155	4	122681459	Missense_Mutation	SNP	T	TCGA-FG-A60J-01A-11D-A289-08	114078337	122681459	68472817	7	7063											
STK19	8859	broad.mit.edu	37	chr6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A																															attcagcgacagtggcgggcINSaaacccctcccggggcgggg																										TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr6:31939829_31939830insA	uc003nyv.3	+	0	184_185	c.56_57insA	c.(55-57)gcafs	p.A19fs	DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.3_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.2_Frame_Shift_Ins_p.A19fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.3_Frame_Shift_Ins_p.A19fs|STK19_uc010jtn.1_5'Flank	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	19						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													7	214	---	---	---	---						A	31939830	-	A	31939829	7	5	157	1	0	1	1	0	0	0	0	0	15291	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-FG-A60J-01A-11D-A289-08		31939829	139175238	8	7064											
HOXA7	3204	broad.mit.edu	37	chr7	27196035	27196035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgaggcgaaggcgccggCgcccgccccgtagccgcttc	4	4	16	17	8	0	0	0	0	0	0	2	2	0	0	5	4	1	2	5	4	2	2			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr7:27196035C>T	uc003sys.3	-	0	262	c.130G>A	c.(130-132)Gcc>Acc	p.A44T		NM_006896	NP_008827	P31268	HXA7_HUMAN	Homo sapiens homeobox A7 (HOXA7), mRNA.	44					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						AAGGCGCCGGCGCCCGCCCCG	0.607													23	143					0	0	1	0	0	T	27196035	C	T	27196035	3	4	157	1	0	0	0	0	1	0	0	0	7297	768	27	1	570	1	HOXA7	7	27196035	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08		27196035	131942628	9	7065											
LETM2	137994	broad.mit.edu	37	chr8	38262000	38262000	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atagatgtgaagcccaagccGattgagataccactcagtgg	13	8	11	9	1	1	3	1	2	0	2	1	5	1	3	3	1	3	0	3	1	4	3			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr8:38262000G>A	uc003xlm.2	+	7	1285	c.1053G>A	c.(1051-1053)ccG>ccA	p.P351P	LETM2_uc011lbn.2_Silent_p.P195P|LETM2_uc003xll.2_Silent_p.P303P|LETM2_uc003xln.2_Silent_p.P195P|LETM2_uc003xlo.2_Silent_p.P195P	NM_001199659	NP_001186588	Q2VYF4	LETM2_HUMAN	Homo sapiens leucine zipper-EF-hand containing transmembrane protein 2 (LETM2), transcript variant 1, mRNA.	398	LETM1.					integral to membrane|mitochondrial inner membrane				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			AGCCCAAGCCGATTGAGATAC	0.557													10	57					0	0	1	0	0	A	38262000	G	A	38262000	2	1	157	1	0	0	0	0	0	0	0	1	8735	1045	37	2		2	LETM2	8	38262000	Silent	SNP	G	TCGA-FG-A60J-01A-11D-A289-08		38262000	108102022	10	7066											
XKR4	114786	broad.mit.edu	37	chr8	56436610	56436610	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaccacggattgaagaaTcagtcattaaaattgacttg	14	10	8	9	1	2	3	2	2	0	1	2	4	2	4	2	1	0	0	2	1	4	4			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr8:56436610T>C	uc003xsf.3	+	2	1809	c.1777T>C	c.(1777-1779)Tca>Cca	p.S593P		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	593						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GATTGAAGAATCAGTCATTAA	0.488													31	61					0	0	1	0	0	C	56436610	T	C	56436610	3	2	157	1	0	0	0	0	1	0	0	0	17430	1435	50	3	1787	3	XKR4	8	56436610	Missense_Mutation	SNP	T	TCGA-FG-A60J-01A-11D-A289-08	18174610	56436610	89927412	11	7067											
FAM154A	158297	broad.mit.edu	37	chr9	18928550	18928550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttagggcatgtgtaatgggCctgcactgttgtcagaagat	9	12	13	7	0	1	2	1	0	0	2	1	2	1	2	1	2	1	4	1	2	3	3			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr9:18928550C>T	uc003zni.2	-	3	1275	c.925G>A	c.(925-927)Gcc>Acc	p.A309T	FAM154A_uc010mip.2_Missense_Mutation_p.A117T	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	Homo sapiens family with sequence similarity 154, member A (FAM154A), mRNA.	309										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		GTGTAATGGGCCTGCACTGTT	0.547													46	58					0	0	1	0	0	T	18928550	C	T	18928550	3	4	157	1	0	0	0	0	1	0	0	0	5463	739	26	3	503	3	FAM154A	9	18928550	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08		18928550	122284881	12	7068											
TLL2	7093	broad.mit.edu	37	chr10	98129891	98129891	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgtaggcttccatgtagtcGtagccgcagtcggcctcctc	5	11	11	14	4	0	0	0	0	0	0	6	0	2	0	4	2	1	5	4	2	3	4			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr10:98129891G>A	uc001kml.2	-	19	3085	c.2844C>T	c.(2842-2844)taC>taT	p.Y948Y		NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	948	CUB 5.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CCATGTAGTCGTAGCCGCAGT	0.667													11	81					0	0	1	0	0	A	98129891	G	A	98129891	2	1	157	1	0	0	0	0	0	0	0	1	15943	1140	40	1		1	TLL2	10	98129891	Silent	SNP	G	TCGA-FG-A60J-01A-11D-A289-08		98129891	37404856	13	7069											
OR5I1	10798	broad.mit.edu	37	chr11	55703053	55703053	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtgtagaacactgagataAttttatcagtgtttggagaa	13	14	11	3	0	1	3	1	1	0	3	1	5	1	3	0	2	1	2	0	2	5	5			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr11:55703053A>G	uc010ris.2	-	0	824	c.824T>C	c.(823-825)aTt>aCt	p.I275T		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CACTGAGATAATTTTATCAGT	0.408													16	27					0	0	1	0	0	G	55703053	A	G	55703053	3	3	157	1	0	0	0	0	1	0	0	0	11164	101	4	3	123	3	OR5I1	11	55703053	Missense_Mutation	SNP	A	TCGA-FG-A60J-01A-11D-A289-08		55703053	79303463	14	7070											
LRRC55	219527	broad.mit.edu	37	chr11	56949447	56949447	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagactctcgattccatggAcacagtcctcatgggctccc	9	9	8	15	1	2	1	1	0	1	1	6	3	5	2	3	2	0	1	3	2	0	1			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr11:56949447A>G	uc001njl.2	+	0	227	c.80A>G	c.(79-81)gAc>gGc	p.D27G		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	0						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GATTCCATGGACACAGTCCTC	0.607													11	58					0	0	1	0	0	G	56949447	A	G	56949447	3	3	157	1	0	0	0	0	1	0	0	0	9011	275	10	3	82	3	LRRC55	11	56949447	Missense_Mutation	SNP	A	TCGA-FG-A60J-01A-11D-A289-08	1246394	56949447	78057069	15	7071											
TMEM216	51259	broad.mit.edu	37	chr11	61161357	61161357	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcttttgtattggcaggTgtcctgctaccatatccaac	7	14	9	11	0	0	0	0	0	0	0	2	0	2	0	3	3	3	4	3	3	4	6			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr11:61161357T>G	uc021qkf.1	+	3	409	c.137_splice	c.e3-1	p.G46_splice	TMEM216_uc010rlj.2_Splice_Site_p.G46_splice|TMEM216_uc001nrn.2_Splice_Site	NM_001173991	NP_001167462	Q9P0N5	TM216_HUMAN	Homo sapiens transmembrane protein 216 (TMEM216), transcript variant 3, mRNA.	39						integral to membrane		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438													7	27					0	0	1	0	0	G	61161357	T	G	61161357	5	3	157	1	0	0	0	0	0	0	1	0	16136	1710	59	5	148	5	TMEM216	11	61161357	Splice_Site	SNP	T	TCGA-FG-A60J-01A-11D-A289-08	4211910	61161357	73845159	16	7072											
CASP1	834	broad.mit.edu	37	chr11	104897057	104897057	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcatctgcgctctaccAtctggctgctcaaatgaaaa	10	10	10	11	1	4	1	1	1	3	0	4	1	4	1	1	2	3	4	1	2	4	1			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr11:104897057A>C	uc001pim.4	-	8	1143	c.1143T>G	c.(1141-1143)gaT>gaG	p.D381E	CASP1_uc001pig.3_Missense_Mutation_p.D288E|CASP1_uc021qpq.1_Missense_Mutation_p.D360E|CASP1_uc021qpr.1_Missense_Mutation_p.D240E|CASP1_uc021qps.1_Missense_Mutation_p.D65E|CASP1_uc021qpp.1_Missense_Mutation_p.D381E|CASP1_uc021qpt.1_Missense_Mutation_p.D288E|CASP1_uc010rve.2_Missense_Mutation_p.D381E|CASP1_uc010rvf.2_Missense_Mutation_p.D288E|CASP1_uc010rvg.2_Missense_Mutation_p.D360E|CASP1_uc010rvh.2_Missense_Mutation_p.D240E|CASP1_uc010rvi.2_Missense_Mutation_p.D65E|CASP1_uc009yxi.3_Missense_Mutation_p.D360E|CASP1_uc021qpu.1_Missense_Mutation_p.D288E|CASP1_uc021qpv.1_Missense_Mutation_p.D360E|CASP1_uc021qpw.1_Missense_Mutation_p.D240E|CASP1_uc021qpx.1_Missense_Mutation_p.D65E|CASP1_uc010rvj.2_Missense_Mutation_p.D381E	NM_033292	NP_150634	P29466	CASP1_HUMAN	Homo sapiens caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) (CASP1), transcript variant alpha, mRNA.	381					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	GCGCTCTACCATCTGGCTGCT	0.393													7	67					0	0	1	0	0	C	104897057	A	C	104897057	3	2	157	1	0	0	0	0	1	0	0	0	2668	214	8	5	75	5	CASP1	11	104897057	Missense_Mutation	SNP	A	TCGA-FG-A60J-01A-11D-A289-08	43735700	104897057	30109459	17	7073											
CLEC12A	160364	broad.mit.edu	37	chr12	10131591	10131591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctccctctcatgtatggCgtccagcagccttgtttctg	5	13	9	14	1	2	0	1	0	2	0	5	0	4	0	3	1	3	4	3	1	1	3	rs141455664	byFrequency	TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr12:10131591C>T	uc001qwq.3	+	2	179	c.148C>T	c.(148-150)Cgt>Tgt	p.R50C	CLEC12A_uc001qwr.4_Missense_Mutation_p.R40C|CLEC12A_uc001qws.4_Intron|CLEC12A_uc001qwt.3_5'UTR	NM_001207010	NP_001193939	Q5QGZ9	CL12A_HUMAN	Homo sapiens C-type lectin domain family 12, member A (CLEC12A), transcript variant 3, mRNA.	40						integral to membrane|plasma membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						TCATGTATGGCGTCCAGCAGC	0.433													39	62					0	0	1	0	0	T	10131591	C	T	10131591	3	4	157	1	0	0	0	0	1	0	0	0	3497	768	27	1	124	1	CLEC12A	12	10131591	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08		10131591	123720304	18	7074											
ASCL1	429	broad.mit.edu	37	chr12	103352171	103352172	+	In_Frame_Ins	INS	-	-	GCA																															gcagcggcagcgcagagcgcINSgcagcagcagcagcagcagc																								rs71438488		TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr12:103352171_103352172insGCA	uc001tjr.4	+	0	720_721	c.149_150insGCA	c.(148-150)gcg>gcGCAg	p.62_63insQ	ASCL1_uc021rcu.1_In_Frame_Ins_p.62_63insQ	NM_004316	NP_004307	P50553	ASCL1_HUMAN	Homo sapiens achaete-scute complex homolog 1 (Drosophila) (ASCL1), mRNA.	62	Poly-Gln.			Q -> QQQ (in Ref. 1).	Notch signaling pathway|cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	E-box binding|bHLH transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			NS(3)|large_intestine(1)|lung(1)	5						gcgcagagcgcgcagcagcagc	0.757													5	3	---	---	---	---						GCA	103352172	-	GCA	103352171	7	5	157	1	0	1	1	0	0	0	0	0	1034	768	27	0	151	0	ASCL1	12	103352171	In_Frame_Ins	INS	-	TCGA-FG-A60J-01A-11D-A289-08	93220580	103352171	30499724	19	7075											
SRRM4	84530	broad.mit.edu	37	chr12	119592158	119592158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcgccggagagactcccCgagccacctggaggcccgga	10	2	14	15	4	0	1	0	0	0	1	1	6	1	4	6	4	2	0	6	4	1	0			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr12:119592158C>T	uc001txa.2	+	11	1890	c.1502C>T	c.(1501-1503)cCg>cTg	p.P501L		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	501	Arg-rich.|Ser-rich.				RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						AGAGACTCCCCGAGCCACCTG	0.632													17	19					0	0	1	0	0	T	119592158	C	T	119592158	3	4	157	1	0	0	0	0	1	0	0	0	15170	652	23	2	1548	2	SRRM4	12	119592158	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08	16239987	119592158	14259737	20	7076											
LATS2	26524	broad.mit.edu	37	chr13	21562142	21562142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgagtagctcttgatgcGtgactctctcttctcttcgt	4	16	10	11	3	4	2	0	2	4	0	7	3	4	2	0	1	2	2	0	1	1	4			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr13:21562142G>A	uc009zzs.3	-	3	2142	c.1777C>T	c.(1777-1779)Cgc>Tgc	p.R593C	LATS2_uc001unr.4_Missense_Mutation_p.R593C	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA.	593					G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CTCTTGATGCGTGACTCTCTC	0.512													18	103					0	0	1	0	0	A	21562142	G	A	21562142	3	1	157	1	0	0	0	0	1	0	0	0	8647	1145	40	1	1509	1	LATS2	13	21562142	Missense_Mutation	SNP	G	TCGA-FG-A60J-01A-11D-A289-08		21562142	93607736	21	7077											
SYNE2	23224	broad.mit.edu	37	chr14	64683079	64683079	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccacctgttccccctgcgTccagcaccccttataaacca	8	10	4	19	1	0	0	0	0	0	0	3	0	3	0	8	0	3	2	8	0	3	4			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr14:64683079T>C	uc001xgl.3	+	107	19746	c.19516T>C	c.(19516-19518)Tcc>Ccc	p.S6506P	SYNE2_uc001xgm.3_Missense_Mutation_p.S6483P|SYNE2_uc010apy.3_Missense_Mutation_p.S2868P|SYNE2_uc001xgn.3_Missense_Mutation_p.S1445P|SYNE2_uc021rui.1_Missense_Mutation_p.S1470P|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Missense_Mutation_p.S453P|SYNE2_uc001xgq.3_Missense_Mutation_p.S848P|SYNE2_uc001xgr.3_Missense_Mutation_p.S266P|SYNE2_uc010tsi.2_Missense_Mutation_p.S140P|SYNE2_uc001xgs.3_Missense_Mutation_p.S140P|SYNE2_uc001xgt.3_Missense_Mutation_p.S14P	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	6483					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCCCCCTGCGTCCAGCACCCC	0.498													34	46					0	0	1	0	0	C	64683079	T	C	64683079	3	2	157	1	0	0	0	0	1	0	0	0	15443	1667	58	3	19942	3	SYNE2	14	64683079	Missense_Mutation	SNP	T	TCGA-FG-A60J-01A-11D-A289-08		64683079	42666461	22	7078											
CHRNA5	1138	broad.mit.edu	37	chr15	78882881	78882881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaagaggaaactgagagtgGtagtggaccaaaatcttcta	16	8	12	5	0	2	2	0	1	2	2	2	6	2	4	1	3	1	1	1	3	6	3			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr15:78882881G>A	uc002bdy.3	+	4	1348	c.1148G>A	c.(1147-1149)gGt>gAt	p.G383D		NM_000745	NP_000736	P30532	ACHA5_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 5 (CHRNA5), mRNA.	383					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						ACTGAGAGTGGTAGTGGACCA	0.438													32	56					0	0	1	0	0	A	78882881	G	A	78882881	3	1	157	1	0	0	0	0	1	0	0	0	3386	1261	44	3	1166	3	CHRNA5	15	78882881	Missense_Mutation	SNP	G	TCGA-FG-A60J-01A-11D-A289-08		78882881	23648511	23	7079											
ABR	29	broad.mit.edu	37	chr17	915191	915191	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacctcctccacacactGccggacgatgtagggcacct	8	7	8	18	2	0	0	0	0	0	0	3	2	3	1	6	2	1	2	6	2	1	1			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:915191G>A	uc002fsd.3	-	18	2106	c.1996C>T	c.(1996-1998)Cag>Tag	p.Q666*	ABR_uc002fse.3_Nonsense_Mutation_p.Q620*|ABR_uc010vqf.2_Nonsense_Mutation_p.Q117*|ABR_uc010vqg.2_Nonsense_Mutation_p.Q448*|ABR_uc002fsg.3_Nonsense_Mutation_p.Q629*|ABR_uc002fsh.1_Intron|ABR_uc002fsf.3_Nonsense_Mutation_p.Q203*	NM_021962	NP_001153218	Q12979	ABR_HUMAN	Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.	666	Rho-GAP.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TCCACACACTGCCGGACGATG	0.652													48	73					0	0	1	0	0	A	915191	G	A	915191	4	1	157	1	0	0	0	0	0	1	0	0	99	1328	46	3	603	3	ABR	17	915191	Nonsense_Mutation	SNP	G	TCGA-FG-A60J-01A-11D-A289-08		915191	80280019	24	7080											
ZZEF1	23140	broad.mit.edu	37	chr17	4046085	4046085	+	Frame_Shift_Del	DEL	G	G	-																															ggagccgcgacgcccgggccGggggtcgtgcccgagaccgc																										TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:4046085delG	uc002fxe.3	-	0	169	c.105delC	c.(103-105)cccfs	p.P35fs	ZZEF1_uc002fxk.1_Frame_Shift_Del_p.P35fs|CYB5D2_uc002fxm.4_5'Flank|CYB5D2_uc002fxl.4_5'Flank|CYB5D2_uc010cko.3_5'Flank	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	35							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CGCCCGGGCCGGGGGTCGTGC	0.751													2	4	---	---	---	---						-	4046085	G	-	4046085	7	5	157	1	0	1	0	1	0	0	0	0	18252	1103	39	0	9000	0	ZZEF1	17	4046085	Frame_Shift_Del	DEL	G	TCGA-FG-A60J-01A-11D-A289-08	3130894	4046085	77149125	25	7081											
ARRB2	409	broad.mit.edu	37	chr17	4619834	4619834	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccggtgcccaacccaccccgGccccccacccgcctgcagga	6	2	9	24	3	0	0	0	0	0	0	0	1	0	1	10	3	3	1	10	3	1	0			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:4619834G>C	uc010vsg.2	+	4	516	c.288G>C	c.(286-288)cgG>cgC	p.R96R	ARRB2_uc002fyj.3_Silent_p.R96R|ARRB2_uc002fyk.3_Silent_p.R81R|ARRB2_uc002fyl.3_Silent_p.R96R|ARRB2_uc002fym.3_Silent_p.R81R|ARRB2_uc002fyn.3_5'UTR	NM_004313	NP_004304	P32121	ARRB2_HUMAN	Homo sapiens arrestin, beta 2 (ARRB2), transcript variant 1, mRNA.	96					G-protein coupled receptor internalization|cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|negative regulation of NF-kappaB transcription factor activity|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						ACCCACCCCGGCCCCCCACCC	0.672													7	20					0	0	1	0	0	C	4619834	G	C	4619834	2	2	157	1	0	0	0	0	0	0	0	1	981	1190	42	5		5	ARRB2	17	4619834	Silent	SNP	G	TCGA-FG-A60J-01A-11D-A289-08	573749	4619834	76575376	26	7082											
TP53	7157	broad.mit.edu	37	chr17	7577157	7577157	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgtcccagtagattaccacTactcaggataggaaaagaga	15	7	9	10	1	1	2	1	0	0	2	2	5	2	4	3	2	2	1	3	2	6	4			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:7577157T>G	uc002gim.2	-	8	977	c.783_splice	c.e8-1	p.S261_splice	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Splice_Site_p.S261_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Splice_Site_p.S129_splice|TP53_uc010cnf.1_Splice_Site_p.S129_splice|TP53_uc002gii.1_Splice_Site_p.S129_splice|TP53_uc010cni.1_Splice_Site_p.S261_splice|TP53_uc010cnh.1_Splice_Site_p.S261_splice|TP53_uc002gij.2_Splice_Site_p.S261_splice|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.	261	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		S -> C (in a sporadic cancer; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> N (in a sporadic cancer; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(11)|p.0?(8)|p.E258fs*71(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)		AGATTACCACTACTCAGGATA	0.512		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)			11	13					0	0	1	0	0	G	7577157	T	G	7577157	5	3	157	1	0	0	0	0	0	0	1	0	16378	1536	53	5	505	5	TP53	17	7577157	Splice_Site	SNP	T	TCGA-FG-A60J-01A-11D-A289-08	2957323	7577157	73618053	27	7083											
TP53	7157	broad.mit.edu	37	chr17	7577574	7577574	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcaggaactgttacacatgTagttgtagtggatggtggta	10	13	14	4	0	0	0	0	0	0	0	0	2	0	2	0	4	3	6	0	4	5	5			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:7577574T>C	uc002gim.2	-	6	901	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	TP53_uc002gig.1_Missense_Mutation_p.Y236C|TP53_uc002gih.3_Missense_Mutation_p.Y236C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y104C|TP53_uc010cnf.1_Missense_Mutation_p.Y104C|TP53_uc002gii.1_Missense_Mutation_p.Y104C|TP53_uc010cni.1_Missense_Mutation_p.Y236C|TP53_uc010cnh.1_Missense_Mutation_p.Y236C|TP53_uc002gij.2_Missense_Mutation_p.Y236C|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.Y143C|TP53_uc002gio.2_Missense_Mutation_p.Y104C|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	236	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y236C(113)|p.N235S(14)|p.Y236N(12)|p.Y236*(10)|p.Y236H(9)|p.Y236del(8)|p.0?(8)|p.Y236D(7)|p.N235D(7)|p.Y236S(6)|p.?(5)|p.Y143C(5)|p.N235I(4)|p.Y236fs*4(3)|p.N235T(3)|p.N235fs*5(2)|p.Y236_M243delYMCNSSCM(2)|p.N235Y(2)|p.N235fs*12(2)|p.Y236Y(2)|p.Y236_M237delYM(2)|p.I232_Y236delIHYNY(2)|p.H233_C242del10(2)|p.N235_Y236delNY(2)|p.N235del(2)|p.N235fs*6(1)|p.V225fs*23(1)|p.Y236_M237>*L(1)|p.Y236_M237insXX(1)|p.N235>XX(1)|p.N235M(1)|p.H233fs*6(1)|p.N235H(1)|p.Y234_N235insX(1)|p.Y236fs*5(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)		GTTACACATGTAGTTGTAGTG	0.572		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)			40	36					0	0	1	0	0	C	7577574	T	C	7577574	3	2	157	1	0	0	0	0	1	0	0	0	16378	1638	57	3	583	3	TP53	17	7577574	Missense_Mutation	SNP	T	TCGA-FG-A60J-01A-11D-A289-08	417	7577574	73617636	28	7084											
HS3ST3A1	9955	broad.mit.edu	37	chr17	13400056	13400056	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatggccgagatgcgcgCgggggcctcccgcgtgacga	6	4	18	13	7	0	2	0	1	0	1	1	5	1	3	3	4	1	0	3	4	0	0			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:13400056C>T	uc002gob.1	-	1	1477	c.679G>A	c.(679-681)Gcg>Acg	p.A227T		NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 (HS3ST3A1), mRNA.	227						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GAGATGCGCGCGGGGGCCTCC	0.627													51	162					0	0	1	0	0	T	13400056	C	T	13400056	3	4	157	1	0	0	0	0	1	0	0	0	7365	768	27	1	545	1	HS3ST3A1	17	13400056	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08	5822482	13400056	67795154	29	7085											
CDRT1	374286	broad.mit.edu	37	chr17	15532459	15532459	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccttgcggttctcctcctGcagccggagatacttgtgtg	5	12	12	12	2	1	1	0	0	1	1	3	3	2	1	4	2	4	2	4	2	1	4			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:15532459G>A	uc002gor.1	-	5	1502	c.1165C>T	c.(1165-1167)Cag>Tag	p.Q389*	CDRT1_uc002gow.3_Nonsense_Mutation_p.Q173*|CDRT1_uc002gox.3_Nonsense_Mutation_p.Q389*|CDRT1_uc002goy.3_Nonsense_Mutation_p.Q259*			O95170	CDRT1_HUMAN	Homo sapiens tripartite motif containing 16 (TRIM16), mRNA.	235										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		TTCTCCTCCTGCAGCCGGAGA	0.602													9	69					0	0	1	0	0	A	15532459	G	A	15532459	4	1	157	1	0	0	0	0	0	1	0	0	3174	1328	46	3		3	CDRT1	17	15532459	Nonsense_Mutation	SNP	G	TCGA-FG-A60J-01A-11D-A289-08	2132403	15532459	65662751	30	7086											
SSTR3	6753	broad.mit.edu	37	chr22	37603530	37603530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagggccagtaggacagggCgttctgggcggccaggaagg	9	4	20	8	2	1	0	0	0	1	0	1	3	1	2	2	7	0	2	2	7	3	2			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr22:37603530C>T	uc003ara.3	-	1	375	c.313G>A	c.(313-315)Gcc>Acc	p.A105T	SSTR3_uc003arb.3_Missense_Mutation_p.A105T|SSTR3_uc021wos.1_Missense_Mutation_p.A105T	NM_001051	NP_001042	P32745	SSR3_HUMAN	Homo sapiens somatostatin receptor 3 (SSTR3), mRNA.	105					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	p.A105A(1)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						TAGGACAGGGCGTTCTGGGCG	0.622													52	73					0	0	1	0	0	T	37603530	C	T	37603530	3	4	157	1	0	0	0	0	1	0	0	0	15198	768	27	1	947	1	SSTR3	22	37603530	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08		37603530	13701036	31	7087											
MPPED1	758	broad.mit.edu	37	chr22	43898541	43898541	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggcttcctggactgggtcCccaagaagatgcagcgggtg	8	7	15	11	1	0	2	0	0	0	2	2	3	2	3	3	4	2	2	3	4	2	1			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr22:43898541C>A	uc011apz.2	+	5	1206	c.865C>A	c.(865-867)Ccc>Acc	p.P289T	MPPED1_uc011apv.2_Missense_Mutation_p.P256T|MPPED1_uc011apw.2_Missense_Mutation_p.P150T|MPPED1_uc011apx.2_Missense_Mutation_p.P98T|MPPED1_uc011apy.2_Missense_Mutation_p.P256T	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN	Homo sapiens metallophosphoesterase domain containing 1 (MPPED1), mRNA.	256							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GGACTGGGTCCCCAAGAAGAT	0.632													16	137					1.37285e-15	1.42669e-15	1	1	0	A	43898541	C	A	43898541	3	1	157	1	0	0	0	0	1	0	0	0	9741	623	22	5	664	5	MPPED1	22	43898541	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08	6295011	43898541	7406025	32	7088											
ZNF81	347344	broad.mit.edu	37	chrX	47774744	47774744	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttacccagaactcttcttaTagtcaccacgaaaatacaca	15	11	3	12	1	3	1	1	0	2	1	3	2	3	1	2	0	3	0	2	0	7	6			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:47774744T>C	uc022bvq.1	+	4	948	c.699T>C	c.(697-699)taT>taC	p.Y233Y	ZNF81_uc010nhy.2_Silent_p.Y233Y	NM_007137	NP_009068	P51508	ZNF81_HUMAN	Homo sapiens zinc finger protein 81 (ZNF81), mRNA.	233						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				ACTCTTCTTATAGTCACCACG	0.363													9	79					0	0	1	0	0	C	47774744	T	C	47774744	2	2	157	1	0	0	0	0	0	0	0	1	18171	1413	49	3		3	ZNF81	23	47774744	Silent	SNP	T	TCGA-FG-A60J-01A-11D-A289-08		47774744	107495816	33	7089											
GRIPAP1	56850	broad.mit.edu	37	chrX	48831681	48831681	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtctctcaggacgctgccCagcccgctgcggtctgtgtg	4	9	14	14	3	3	0	1	0	2	0	4	1	3	1	2	3	3	2	2	3	0	0			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:48831681C>G	uc004dly.1	-	24	2354	c.2319G>C	c.(2317-2319)ctG>ctC	p.L773L		NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	Homo sapiens GRIP1 associated protein 1 (GRIPAP1), transcript variant 1, mRNA.	773						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						GGACGCTGCCCAGCCCGCTGC	0.607													22	33					0	0	1	0	0	G	48831681	C	G	48831681	2	3	157	1	0	0	0	0	0	0	0	1	6789	581	21	5		5	GRIPAP1	23	48831681	Silent	SNP	C	TCGA-FG-A60J-01A-11D-A289-08	1056937	48831681	106438879	34	7090											
AR	367	broad.mit.edu	37	chrX	66863188	66863188	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtggagatgaagcttctggGtgtcactatggagctctcac	8	12	13	8	0	3	2	2	1	2	1	4	4	3	3	0	3	2	2	0	3	2	2			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:66863188G>C	uc004dwu.2	+	1	2822	c.1707G>C	c.(1705-1707)ggG>ggC	p.G569G	AR_uc011mpd.2_Silent_p.G569G|AR_uc011mpe.1_Non-coding_Transcript|AR_uc011mpf.1_Silent_p.G569G|AR_uc022byj.1_Intron|AR_uc022byk.1_Silent_p.G569G|AR_uc004dwv.2_Silent_p.G37G	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	568					cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	AAGCTTCTGGGTGTCACTATG	0.493									Androgen Insensitivity Syndrome				5	43					0	0	1	0	0	C	66863188	G	C	66863188	2	2	157	1	0	0	0	0	0	0	0	1	836	1248	44	5		5	AR	23	66863188	Silent	SNP	G	TCGA-FG-A60J-01A-11D-A289-08	18031507	66863188	88407372	35	7091											
OGT	8473	broad.mit.edu	37	chrX	70776956	70776956	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atctggcttccattcataagGtactactgtttattataata	12	17	5	7	0	2	0	1	0	1	0	3	0	3	0	1	2	2	3	1	2	7	10			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:70776956G>T	uc004eaa.2	+	10	1558	c.1320_splice	c.e10+1	p.K440_splice	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Splice_Site_p.K430_splice|OGT_uc004eac.3_Splice_Site_p.K301_splice|OGT_uc004ead.3_Splice_Site_p.K59_splice	NM_181672	NP_858058	O15294	OGT1_HUMAN	Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.	440					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	MLL5-L complex|cytosol	enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CATTCATAAGGTACTACTGTT	0.368													4	31					5.9392e-07	5.9392e-07	1	1	0	T	70776956	G	T	70776956	5	4	157	1	0	0	0	0	0	0	1	0	10847	1275	44	5	1359	5	OGT	23	70776956	Splice_Site	SNP	G	TCGA-FG-A60J-01A-11D-A289-08	3913768	70776956	84493604	36	7092											
RGAG4	340526	broad.mit.edu	37	chrX	71350423	71350423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaaagggaagatgatatttCgaactccagggagcgggata	15	7	13	6	2	0	2	0	1	0	1	2	6	1	5	1	3	2	0	1	3	6	3			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:71350423C>T	uc010nlh.2	-	0	968	c.968G>A	c.(967-969)cGa>cAa	p.R323Q	NHSL2_uc011mqa.2_Intron|RGAG4_uc004eaj.2_Missense_Mutation_p.R323Q	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	Homo sapiens retrotransposon gag domain containing 4 (RGAG4), mRNA.	323										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GATGATATTTCGAACTCCAGG	0.493													59	111					0	0	1	0	0	T	71350423	C	T	71350423	3	4	157	1	0	0	0	0	1	0	0	0	13275	884	31	2	745	2	RGAG4	23	71350423	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08	573467	71350423	83920137	37	7093											
CSTF2	1478	broad.mit.edu	37	chrX	100077401	100077401	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaaaagaacaaagaagAgctgaagagtgagtacaaat	21	5	11	4	0	0	7	0	3	0	4	0	7	0	7	0	0	3	2	0	0	8	1			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:100077401A>T	uc004egh.3	+	2	357	c.299A>T	c.(298-300)gAg>gTg	p.E100V	CSTF2_uc010nnd.3_Missense_Mutation_p.E100V|CSTF2_uc004egi.3_Missense_Mutation_p.E100V	NM_001325	NP_001316	P33240	CSTF2_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa (CSTF2), mRNA.	100					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	RNA binding|nucleotide binding|protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						AACAAAGAAGAGCTGAAGAGT	0.418													18	42					0	0	1	0	0	T	100077401	A	T	100077401	3	4	157	1	0	0	0	0	1	0	0	0	3984	304	11	5	309	5	CSTF2	23	100077401	Missense_Mutation	SNP	A	TCGA-FG-A60J-01A-11D-A289-08	28726978	100077401	55193159	38	7094											
DRP2	1821	broad.mit.edu	37	chrX	100490939	100490939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgaacgggtctgttggtGcctctggacccctggaacca	6	11	13	11	1	2	1	0	1	2	0	2	3	2	3	4	4	3	2	4	4	2	2			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:100490939G>A	uc004egz.2	+	3	577	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	DRP2_uc011mrh.1_5'UTR	NM_001939	NP_001164655	Q13474	DRP2_HUMAN	Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA.	70					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GTCTGTTGGTGCCTCTGGACC	0.517													95	185					0	0	1	0	0	A	100490939	G	A	100490939	3	1	157	1	0	0	0	0	1	0	0	0	4764	1319	46	3	214	3	DRP2	23	100490939	Missense_Mutation	SNP	G	TCGA-FG-A60J-01A-11D-A289-08	413538	100490939	54779621	39	7095											
SERPINA7	6906	broad.mit.edu	37	chrX	105280487	105280487	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggcttgaggtcttgaattAgacccacaactttccctttg	8	15	8	10	0	1	3	0	2	1	1	2	3	2	3	2	2	1	1	2	2	3	6			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:105280487A>C	uc010npd.3	-	0	798	c.563T>G	c.(562-564)cTa>cGa	p.L188R	SERPINA7_uc004eme.2_Missense_Mutation_p.L188R|SERPINA7_uc010npe.2_Missense_Mutation_p.L188R	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	188					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GTCTTGAATTAGACCCACAAC	0.413													55	108					0	0	1	0	0	C	105280487	A	C	105280487	3	2	157	1	0	0	0	0	1	0	0	0	14094	420	15	5	700	5	SERPINA7	23	105280487	Missense_Mutation	SNP	A	TCGA-FG-A60J-01A-11D-A289-08	4789548	105280487	49990073	40	7096											
DOCK11	139818	broad.mit.edu	37	chrX	117773444	117773444	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcggaatagaccgaaaaTcgcaaaccatgcctgctctt	13	9	7	12	3	1	1	0	0	1	1	3	3	1	2	3	1	3	2	3	1	5	3			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:117773444T>A	uc004eqp.2	+	37	4111	c.4048T>A	c.(4048-4050)Tcg>Acg	p.S1350T	DOCK11_uc004eqq.2_Missense_Mutation_p.S1129T	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	1350					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGACCGAAAATCGCAAACCAT	0.413													14	90					0	0	1	0	0	A	117773444	T	A	117773444	3	1	157	1	0	0	0	0	1	0	0	0	4686	1435	50	5	4198	5	DOCK11	23	117773444	Missense_Mutation	SNP	T	TCGA-FG-A60J-01A-11D-A289-08	12492957	117773444	37497116	41	7097											
ARHGAP36	158763	broad.mit.edu	37	chrX	130217833	130217833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccggtcaggctgcgggcCgtcgtcggggaaacgtggtg	5	6	18	12	6	1	0	1	0	0	0	3	1	1	1	3	6	2	1	3	6	1	0			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:130217833C>T	uc004evz.3	+	3	790	c.445C>T	c.(445-447)Cgt>Tgt	p.R149C	ARHGAP36_uc004ewa.3_Missense_Mutation_p.R137C|ARHGAP36_uc004ewb.3_Missense_Mutation_p.R118C|ARHGAP36_uc004ewc.3_Missense_Mutation_p.R13C	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	149	Arg-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GGCTGCGGGCCGTCGTCGGGG	0.622													15	240					0	0	1	0	0	T	130217833	C	T	130217833	3	4	157	1	0	0	0	0	1	0	0	0	883	652	23	2	455	2	ARHGAP36	23	130217833	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08	12444389	130217833	25052727	42	7098											
GPR112	139378	broad.mit.edu	37	chrX	135428469	135428469	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctccattttcaacaatgctGgaagtgacagacgaatcagc	13	10	8	10	1	3	2	2	1	1	1	4	4	3	3	1	1	3	1	1	1	4	2			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:135428469G>C	uc004ezu.1	+	5	2895	c.2604G>C	c.(2602-2604)ctG>ctC	p.L868L	GPR112_uc010nsb.1_Silent_p.L663L|GPR112_uc010nsc.1_Silent_p.L635L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	868					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAACAATGCTGGAAGTGACAG	0.398													21	225					0	0	1	0	0	C	135428469	G	C	135428469	2	2	157	1	0	0	0	0	0	0	0	1	6629	1335	47	5		5	GPR112	23	135428469	Silent	SNP	G	TCGA-FG-A60J-01A-11D-A289-08	5210636	135428469	19842091	43	7099											
GABRA3	2556	broad.mit.edu	37	chrX	151336930	151336930	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgggagcagcgcccttggAgatggtggaaaattcagtgt	10	9	15	7	1	1	1	1	0	0	1	1	4	1	3	1	4	2	1	1	4	2	2			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:151336930A>T	uc010ntk.1	-	9	1489	c.1249T>A	c.(1249-1251)Tcc>Acc	p.S417T		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	417					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCGCCCTTGGAGATGGTGGAA	0.552													14	280					0	0	1	0	0	T	151336930	A	T	151336930	3	4	157	1	0	0	0	0	1	0	0	0	6162	304	11	5	233	5	GABRA3	23	151336930	Missense_Mutation	SNP	A	TCGA-FG-A60J-01A-11D-A289-08	15908461	151336930	3933630	44	7100											
NAA10	8260	broad.mit.edu	37	chrX	153195616	153195616	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttgctctccaccttgtTctcgatggcacccagcacca	6	11	7	17	1	2	0	0	0	2	0	4	1	2	0	5	1	2	4	5	1	0	3			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:153195616T>C	uc004fjm.1	-	7	643	c.532A>G	c.(532-534)Aac>Gac	p.N178D	NAA10_uc004fjn.1_Missense_Mutation_p.N163D	NM_003491	NP_003482	P41227	NAA10_HUMAN	Homo sapiens N(alpha)-acetyltransferase 10, NatA catalytic subunit (NAA10), transcript variant 1, mRNA.	178					DNA packaging|N-terminal protein amino acid acetylation|internal protein amino acid acetylation	cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						TCCACCTTGTTCTCGATGGCA	0.627													69	78					0	0	1	0	0	C	153195616	T	C	153195616	3	2	157	1	0	0	0	0	1	0	0	0	10116	1783	62	3	179	3	NAA10	23	153195616	Missense_Mutation	SNP	T	TCGA-FG-A60J-01A-11D-A289-08	1858686	153195616	2074944	45	7101											
TAZ	6901	broad.mit.edu	37	chrX	153640435	153640435	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgccagagtacatgaaccAcctgaccgtgcacaacaggg	12	4	10	15	2	0	3	0	2	0	1	0	3	0	3	5	1	4	2	5	1	3	1			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:153640435A>T	uc010nuy.3	+	1	176	c.176A>T	c.(175-177)cAc>cTc	p.H59L	DNASE1L1_uc004fks.1_5'Flank|DNASE1L1_uc004fkt.1_5'Flank|DNASE1L1_uc004fku.1_5'Flank|DNASE1L1_uc004fkv.1_5'Flank|DNASE1L1_uc004fkw.1_5'Flank|TAZ_uc004fkx.3_Missense_Mutation_p.H41L|TAZ_uc004fky.3_Missense_Mutation_p.H41L|TAZ_uc004fkz.3_Non-coding_Transcript|TAZ_uc004fla.3_Missense_Mutation_p.H41L|TAZ_uc004flb.3_Missense_Mutation_p.H41L|TAZ_uc004flc.4_Intron	NM_181312	NP_851829	Q16635	TAZ_HUMAN	Homo sapiens tafazzin (TAZ), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	41					cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TACATGAACCACCTGACCGTG	0.677											OREG0003602	type=REGULATORY REGION|Gene=DNASE1L1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	17	13					0	0	1	0	0	T	153640435	A	T	153640435	3	4	157	1	0	0	0	0	1	0	0	0	15593	159	6	5	128	5	TAZ	23	153640435	Missense_Mutation	SNP	A	TCGA-FG-A60J-01A-11D-A289-08	444819	153640435	1630125	46	7102											
PPOX	5498	broad.mit.edu	37	chr1	161139471	161139471	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatctctaagggacagcagtCtggaggctgaccacgttatt	10	11	11	9	1	2	1	0	1	2	0	3	3	2	3	1	3	1	3	1	3	3	4			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr1:161139471C>G	uc001fyj.2	+	7	1119	c.829C>G	c.(829-831)Ctg>Gtg	p.L277V	PPOX_uc001fyg.2_Missense_Mutation_p.L277V|PPOX_uc010pkg.1_Missense_Mutation_p.L115V|PPOX_uc001fyi.2_Missense_Mutation_p.L115V|PPOX_uc010pkh.1_Intron	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	Homo sapiens protoporphyrinogen oxidase (PPOX), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	277					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGACAGCAGTCTGGAGGCTGA	0.473													9	109					0	0	1	0	0	G	161139471	C	G	161139471	3	3	158	1	0	0	0	0	1	0	0	0	12348	912	32	5	855	5	PPOX	1	161139471	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08		161139471	88111150	1	7103											
RC3H1	149041	broad.mit.edu	37	chr1	173930321	173930321	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatttcctttcgtcggcgaTgtagttcatctagactagga	8	16	9	8	3	2	1	1	0	1	1	5	3	3	2	1	2	0	2	1	2	4	7			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr1:173930321T>A	uc010pmt.2	-	11	2351	c.2264A>T	c.(2263-2265)cAt>cTt	p.H755L	RC3H1_uc001gju.4_Missense_Mutation_p.H755L|RC3H1_uc010pms.2_Missense_Mutation_p.H755L|RC3H1_uc001gjv.3_Missense_Mutation_p.H755L	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	Homo sapiens ring finger and CCCH-type domains 1 (RC3H1), mRNA.	755	Pro-rich.				cytoplasmic mRNA processing body assembly|negative regulation of B cell proliferation|negative regulation of T-helper cell differentiation|negative regulation of activated T cell proliferation|negative regulation of germinal center formation|nuclear-transcribed mRNA catabolic process|regulation of T cell receptor signaling pathway|regulation of mRNA stability	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TCGTCGGCGATGTAGTTCATC	0.448													6	140					0	0	1	0	0	A	173930321	T	A	173930321	3	1	158	1	0	0	0	0	1	0	0	0	13166	1464	51	5	1169	5	RC3H1	1	173930321	Missense_Mutation	SNP	T	TCGA-FG-A60K-01A-11D-A29Q-08	12790850	173930321	75320300	2	7104											
PLB1	151056	broad.mit.edu	37	chr2	28772947	28772947	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagaaaccccaagacaagcTtgaggtaaggaaaggttttc	15	7	11	8	0	0	3	0	1	0	2	1	4	0	4	2	3	2	4	2	3	5	4			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr2:28772947T>C	uc002rmb.2	+	15	1123	c.1079T>C	c.(1078-1080)cTt>cCt	p.L360P	PLB1_uc010ezj.2_Missense_Mutation_p.L371P|PLB1_uc002rmc.3_Missense_Mutation_p.L48P	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	360	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CAAGACAAGCTTGAGGTAAGG	0.453													9	15					0	0	1	0	0	C	28772947	T	C	28772947	3	2	158	1	0	0	0	0	1	0	0	0	12024	1609	56	4	1174	4	PLB1	2	28772947	Missense_Mutation	SNP	T	TCGA-FG-A60K-01A-11D-A29Q-08		28772947	214426426	3	7105											
GALM	130589	broad.mit.edu	37	chr2	38903112	38903112	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggagggtggccaaccgaatCgccaaaggaaccttcaaggt	12	5	14	10	2	1	0	1	0	0	0	2	3	1	2	4	5	2	0	4	5	5	1	rs36038004		TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr2:38903112C>T	uc002rqy.3	+	1	501	c.249C>T	c.(247-249)atC>atT	p.I83I		NM_138801	NP_620156	Q96C23	GALM_HUMAN	Homo sapiens galactose mutarotase (aldose 1-epimerase) (GALM), mRNA.	83					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				CCAACCGAATCGCCAAAGGAA	0.473													5	105					0	0	1	0	0	T	38903112	C	T	38903112	2	4	158	1	0	0	0	0	0	0	0	1	6205	874	31	2		2	GALM	2	38903112	Silent	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08	10130165	38903112	204296261	4	7106											
R3HDM1	23518	broad.mit.edu	37	chr2	136467732	136467732	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccccgcagtggaaacaaaaCaaatattactgtgatcacca	16	7	6	12	1	1	1	1	1	0	0	1	2	1	2	3	1	3	1	3	1	6	2			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr2:136467732C>G	uc002tuo.3	+	21	2932	c.2562C>G	c.(2560-2562)aaC>aaG	p.N854K	R3HDM1_uc010fni.3_Missense_Mutation_p.N853K|R3HDM1_uc002tup.3_Missense_Mutation_p.N799K|R3HDM1_uc010zbh.2_Missense_Mutation_p.N602K	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	Homo sapiens R3H domain containing 1 (R3HDM1), mRNA.	854							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		GGAAACAAAACAAATATTACT	0.453											OREG0014997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	79					0	0	1	0	0	G	136467732	C	G	136467732	3	3	158	1	0	0	0	0	1	0	0	0	12887	477	17	5	2640	5	R3HDM1	2	136467732	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08	97564620	136467732	106731641	5	7107											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								29	33					0	0	1	0	0	T	209113112	C	T	209113112	3	4	158	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08	72645380	209113112	34086261	6	7108											
ZBTB20	26137	broad.mit.edu	37	chr3	114070289	114070289	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgactcgggagtgccccgCggcgtgtcctggcccgagtc	3	7	15	16	5	0	1	0	1	0	0	3	3	1	2	5	3	1	0	5	3	0	0	rs143932166	by1000genomes	TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr3:114070289C>T	uc003ebi.3	-	3	816	c.636G>A	c.(634-636)ccG>ccA	p.P212P	ZBTB20_uc003ebj.3_Silent_p.P139P|ZBTB20_uc010hqp.3_Silent_p.P139P|ZBTB20_uc003ebk.3_Silent_p.P139P|ZBTB20_uc003ebl.3_Silent_p.P139P|ZBTB20_uc003ebm.3_Silent_p.P139P|ZBTB20_uc003ebn.3_Silent_p.P139P|ZBTB20-AS1_uc003ebo.2_5'Flank	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GAGTGCCCCGCGGCGTGTCCT	0.642													4	97					0	0	1	0	0	T	114070289	C	T	114070289	2	4	158	1	0	0	0	0	0	0	0	1	17526	755	27	1		1	ZBTB20	3	114070289	Silent	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08		114070289	83952141	7	7109											
PCDH7	5099	broad.mit.edu	37	chr4	31144302	31144302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccgccatcatgggtgaccGcaacagaaacctcctgaaca	12	5	10	14	2	1	3	1	2	0	1	2	3	2	3	5	2	3	1	5	2	3	0			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr4:31144302G>A	uc021xnd.1	+	2	4607	c.3599G>A	c.(3598-3600)cGc>cAc	p.R1200H	PCDH7_uc011bxx.2_Missense_Mutation_p.R1192H	NM_001173523	NP_001166994	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant d, mRNA.	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ATGGGTGACCGCAACAGAAAC	0.502													4	148					0	0	1	0	0	A	31144302	G	A	31144302	3	1	158	1	0	0	0	0	1	0	0	0	11516	1087	38	1	3694	1	PCDH7	4	31144302	Missense_Mutation	SNP	G	TCGA-FG-A60K-01A-11D-A29Q-08		31144302	160009974	8	7110											
SOX4	6659	broad.mit.edu	37	chr6	21595267	21595269	+	In_Frame_Del	DEL	GGC	GGC	-																															gtggcgggggcggccatgggGgcggcggcggcggcgggagc																										TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr6:21595267_21595269delGGC	uc003ndi.3	+	0	1296_1298	c.502_504delGGC	c.(502-504)ggcdel	p.G173del		NM_003107	NP_003098	Q06945	SOX4_HUMAN	Homo sapiens SRY (sex determining region Y)-box 4 (SOX4), mRNA.	173					DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|T cell differentiation|canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development	mitochondrion|nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|core promoter sequence-specific DNA binding|protein binding			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			cggccatgggggcggcggcggcg	0.739													4	9	---	---	---	---						-	21595269	GGC	-	21595267	7	5	158	1	0	1	0	1	0	0	0	0	14953	1232	43	0	504	0	SOX4	6	21595267	In_Frame_Del	DEL	GGC	TCGA-FG-A60K-01A-11D-A29Q-08		21595267	149519800	9	7111											
GTF2H4	2968	broad.mit.edu	37	chr6	30879464	30879464	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaacctctgttcctcaggatTactctgtggaaggtatgagt	10	13	10	8	0	3	1	1	1	2	0	4	3	4	3	2	3	2	2	2	3	4	3			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr6:30879464T>C	uc003nsa.1	+	8	952	c.745T>C	c.(745-747)Tac>Cac	p.Y249H	GTF2H4_uc010jsf.2_Missense_Mutation_p.Y249H|GTF2H4_uc011dmv.1_Missense_Mutation_p.Y193H|VARS2_uc003nsc.2_5'Flank|VARS2_uc003nsd.3_5'Flank|VARS2_uc011dmx.2_5'Flank|VARS2_uc011dmy.2_5'Flank|VARS2_uc011dmz.2_5'Flank	NM_001517	NP_001508	Q92759	TF2H4_HUMAN	Homo sapiens general transcription factor IIH, polypeptide 4, 52kDa (GTF2H4), mRNA.	249					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TCCTCAGGATTACTCTGTGGA	0.478								Nucleotide excision repair (NER)					37	51					0	0	1	0	0	C	30879464	T	C	30879464	3	2	158	1	0	0	0	0	1	0	0	0	6865	1754	61	3	775	3	GTF2H4	6	30879464	Missense_Mutation	SNP	T	TCGA-FG-A60K-01A-11D-A29Q-08	9284197	30879464	140235603	10	7112											
TNF	7124	broad.mit.edu	37	chr6	31545282	31545282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctcgactttgccgagtctGggcaggtctactttgggatc	6	13	12	10	2	3	0	0	0	3	0	5	3	3	1	1	3	2	1	1	3	1	3			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr6:31545282G>A	uc003nui.3	+	3	839	c.670G>A	c.(670-672)Ggg>Agg	p.G224R	TNF_uc003nuj.3_Silent_p.L75L	NM_000594	NP_000585	P01375	TNFA_HUMAN	Homo sapiens tumor necrosis factor (TNF), mRNA.	224					activation of MAPK activity|activation of MAPKKK activity|activation of caspase activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)	TGCCGAGTCTGGGCAGGTCTA	0.567									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				24	37					0	0	1	0	0	A	31545282	G	A	31545282	3	1	158	1	0	0	0	0	1	0	0	0	16268	1348	47	3	684	3	TNF	6	31545282	Missense_Mutation	SNP	G	TCGA-FG-A60K-01A-11D-A29Q-08	665818	31545282	139569785	11	7113											
KIF25	3834	broad.mit.edu	37	chr6	168430294	168430294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctcaggtcagcttcagcGtgagaagcaggccaggcctg	9	6	14	12	1	3	1	3	1	0	1	3	3	3	1	3	3	3	2	3	3	1	1	rs150821798	byFrequency	TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr6:168430294G>A	uc003qwk.1	+	1	291	c.29G>A	c.(28-30)cGt>cAt	p.R10H	KIF25_uc010kkt.1_Non-coding_Transcript|KIF25_uc003qwl.1_Missense_Mutation_p.R10H	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA.	10	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.Q9*(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CAGCTTCAGCGTGAGAAGCAG	0.632													32	90					0	0	1	0	0	A	168430294	G	A	168430294	3	1	158	1	0	0	0	0	1	0	0	0	8293	1145	40	1	31	1	KIF25	6	168430294	Missense_Mutation	SNP	G	TCGA-FG-A60K-01A-11D-A29Q-08	136885012	168430294	2684773	12	7114											
SCARA5	286133	broad.mit.edu	37	chr8	27779274	27779274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccgcaggtcctgcagccGcgtgcggtggagggccacgt	5	5	16	15	5	0	0	0	0	0	0	1	1	1	1	4	4	3	2	4	4	0	0			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr8:27779274G>A	uc003xgj.3	-	3	1341	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	SCARA5_uc010luz.3_Intron|SCARA5_uc003xgk.3_Missense_Mutation_p.R201W|SCARA5_uc003xgl.3_Missense_Mutation_p.R244W	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	Homo sapiens scavenger receptor class A, member 5 (putative) (SCARA5), mRNA.	244					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		TCCTGCAGCCGCGTGCGGTGG	0.721													3	12					0	0	1	0	0	A	27779274	G	A	27779274	3	1	158	1	0	0	0	0	1	0	0	0	13880	1086	38	1	781	1	SCARA5	8	27779274	Missense_Mutation	SNP	G	TCGA-FG-A60K-01A-11D-A29Q-08		27779274	118584748	13	7115											
CNTNAP3	79937	broad.mit.edu	37	chr9	39086827	39086827	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttgatgtctatctagcttGtacctaatctgcaaacttcc	9	17	5	10	0	3	1	0	1	3	0	4	1	4	1	2	0	4	3	2	0	5	8			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr9:39086827G>C	uc004abi.3	-	19	3479	c.3240C>G	c.(3238-3240)taC>taG	p.Y1080*	CNTNAP3_uc004abj.3_Nonsense_Mutation_p.Y999*|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Nonsense_Mutation_p.Y1080*	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	1080	Laminin G-like 4.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TATCTAGCTTGTACCTAATCT	0.313													4	35					0	0	1	0	0	C	39086827	G	C	39086827	4	2	158	1	0	0	0	0	0	1	0	0	3648	1372	48	5	646	5	CNTNAP3	9	39086827	Nonsense_Mutation	SNP	G	TCGA-FG-A60K-01A-11D-A29Q-08		39086827	102126604	14	7116											
OR2D2	120776	broad.mit.edu	37	chr11	6912815	6912815	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccaagccttcatgggaaaTtccttgtggctactttcctc	7	15	7	12	0	1	0	1	0	0	0	5	1	4	1	4	2	2	1	4	2	3	6			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr11:6912815T>C	uc010rau.2	-	0	917	c.917A>G	c.(916-918)aAt>aGt	p.N306S		NM_003700	NP_003691	Q9H210	OR2D2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily D, member 2 (OR2D2), mRNA.	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCATGGGAAATTCCTTGTGGC	0.458													11	42					0	0	1	0	0	C	6912815	T	C	6912815	3	2	158	1	0	0	0	0	1	0	0	0	10994	1493	52	3	12	3	OR2D2	11	6912815	Missense_Mutation	SNP	T	TCGA-FG-A60K-01A-11D-A29Q-08		6912815	128093701	15	7117											
PLEKHG6	55200	broad.mit.edu	37	chr12	6424735	6424735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaggagatgagccaggagCtctgccaccaacaggaggcc	11	3	13	14	0	1	2	0	1	1	1	1	5	1	4	5	4	4	1	5	4	1	0			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr12:6424735C>T	uc001qnr.3	+	4	623	c.475C>T	c.(475-477)Ctc>Ttc	p.L159F	PLEKHG6_uc001qns.3_Missense_Mutation_p.L159F|PLEKHG6_uc010sew.2_Missense_Mutation_p.L159F|PLEKHG6_uc010sex.2_Missense_Mutation_p.L127F	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.	159					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GAGCCAGGAGCTCTGCCACCA	0.557													13	48					0	0	1	0	0	T	6424735	C	T	6424735	3	4	158	1	0	0	0	0	1	0	0	0	12074	797	28	3	535	3	PLEKHG6	12	6424735	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08		6424735	127427160	16	7118											
CLEC4D	338339	broad.mit.edu	37	chr12	8673735	8673735	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagattctggcataagaaTgaacccgacaactctcaggg	13	9	9	10	1	3	3	2	1	2	2	4	4	3	3	1	2	2	1	1	2	4	3			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr12:8673735T>G	uc001qun.3	+	5	709	c.516T>G	c.(514-516)aaT>aaG	p.N172K		NM_080387	NP_525126	Q8WXI8	CLC4D_HUMAN	Homo sapiens C-type lectin domain family 4, member D (CLEC4D), mRNA.	172	C-type lectin.				innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					GGCATAAGAATGAACCCGACA	0.333													24	29					0	0	1	0	0	G	8673735	T	G	8673735	3	3	158	1	0	0	0	0	1	0	0	0	3514	1461	51	5	538	5	CLEC4D	12	8673735	Missense_Mutation	SNP	T	TCGA-FG-A60K-01A-11D-A29Q-08	2249000	8673735	125178160	17	7119											
ACACB	32	broad.mit.edu	37	chr12	109605743	109605743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgccgccgtgaagtgcatgCgctccatccgcaggtgggcc	5	8	14	14	4	0	1	0	1	0	0	2	1	2	1	5	2	3	3	5	2	1	1			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr12:109605743C>T	uc001tob.3	+	3	948	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C	ACACB_uc001toc.3_Missense_Mutation_p.R277C	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	277	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding	p.R277H(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GAAGTGCATGCGCTCCATCCG	0.592													4	95					0	0	1	0	0	T	109605743	C	T	109605743	3	4	158	1	0	0	0	0	1	0	0	0	107	768	27	1	839	1	ACACB	12	109605743	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08	100932008	109605743	24246152	18	7120											
CCNA1	8900	broad.mit.edu	37	chr13	37012005	37012006	+	Frame_Shift_Ins	INS	-	-	A																															tgcacttcctgctggatttcINSaacacaggtaactgacttgc																										TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr13:37012005_37012006insA	uc001uvr.4	+	2	887_888	c.537_538insA	c.(535-540)ttcaacfs	p.F179fs	CCNA1_uc010teo.2_Frame_Shift_Ins_p.F135fs|CCNA1_uc010abq.3_Frame_Shift_Ins_p.F135fs|CCNA1_uc010abp.3_Frame_Shift_Ins_p.F135fs|CCNA1_uc001uvs.4_Frame_Shift_Ins_p.F178fs|CCNA1_uc010abr.3_Intron	NM_003914	NP_001104517	P78396	CCNA1_HUMAN	Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA.	179					G2/M transition of mitotic cell cycle|cell division|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TGCTGGATTTCAACACAGGTAA	0.47													42	84	---	---	---	---						A	37012006	-	A	37012005	7	5	158	1	0	1	1	0	0	0	0	0	2909	825	29	0	547	0	CCNA1	13	37012005	Frame_Shift_Ins	INS	-	TCGA-FG-A60K-01A-11D-A29Q-08		37012005	78157873	19	7121											
REC8	9985	broad.mit.edu	37	chr14	24648076	24648076	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agagctgcctgaggaggcagCcgctgaggaggaaaggagaa	13	3	18	7	1	0	4	0	2	0	2	0	8	0	7	2	5	3	3	2	5	2	0			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr14:24648076C>T	uc001wmr.3	+	14	1581	c.1154C>T	c.(1153-1155)gCc>gTc	p.A385V	REC8_uc001wms.3_Missense_Mutation_p.A385V	NM_005132	NP_005123	O95072	REC8_HUMAN	Homo sapiens REC8 homolog (yeast) (REC8), transcript variant 1, mRNA.	386	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		GAGGAGGCAGCCGCTGAGGAG	0.587													5	424					0	0	1	0	0	T	24648076	C	T	24648076	3	4	158	1	0	0	0	0	1	0	0	0	13199	739	26	3	1208	3	REC8	14	24648076	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08		24648076	82701464	20	7122											
TTBK2	146057	broad.mit.edu	37	chr15	43102841	43102841	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggttttgtaaaataatccaAagaagagatatggtctagaa	17	12	9	3	0	1	3	0	0	1	3	2	4	2	3	1	2	0	2	1	2	8	6			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr15:43102841A>C	uc001zqo.2	-	8	1232	c.793T>G	c.(793-795)Ttg>Gtg	p.L265V	TTBK2_uc010bcy.2_Missense_Mutation_p.L196V|TTBK2_uc001zqp.3_Missense_Mutation_p.L265V	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	265	Protein kinase.				cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		AAATAATCCAAAGAAGAGATA	0.398													26	44					0	0	1	0	0	C	43102841	A	C	43102841	3	2	158	1	0	0	0	0	1	0	0	0	16674	11	1	5	2969	5	TTBK2	15	43102841	Missense_Mutation	SNP	A	TCGA-FG-A60K-01A-11D-A29Q-08		43102841	59428551	21	7123											
GLIS2	84662	broad.mit.edu	37	chr16	4385109	4385109	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acctggtggaccatgtcaacGattaccatgtcaagcccgag	11	8	10	12	2	2	0	2	0	0	0	2	3	2	1	4	2	3	0	4	2	3	1			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr16:4385109G>C	uc002cwc.1	+	3	637	c.571G>C	c.(571-573)Gat>Cat	p.D191H		NM_032575	NP_115964	Q9BZE0	GLIS2_HUMAN	Homo sapiens GLIS family zinc finger 2 (GLIS2), mRNA.	191					cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						CCATGTCAACGATTACCATGT	0.617													46	73					0	0	1	0	0	C	4385109	G	C	4385109	3	2	158	1	0	0	0	0	1	0	0	0	6446	1058	37	5	585	5	GLIS2	16	4385109	Missense_Mutation	SNP	G	TCGA-FG-A60K-01A-11D-A29Q-08		4385109	85969644	22	7124											
AATK	9625	broad.mit.edu	37	chr17	79094374	79094374	+	Frame_Shift_Del	DEL	G	G	-																															ccggccctgacaacagtcctGggggcccctggaactcagag																										TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr17:79094374delG	uc010dia.3	-	10	3442	c.3362delC	c.(3361-3363)ccafs	p.P1121fs	AATK_uc010dhz.3_Intron|AATK_uc021ueu.1_Frame_Shift_Del_p.P1018fs	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	Homo sapiens apoptosis-associated tyrosine kinase (AATK), transcript variant 1, mRNA.	1121	Pro-rich.					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CAACAGTCCTGGGGGCCCCTG	0.692													2	4	---	---	---	---						-	79094374	G	-	79094374	7	5	158	1	0	1	0	1	0	0	0	0	26	1348	47	0	778	0	AATK	17	79094374	Frame_Shift_Del	DEL	G	TCGA-FG-A60K-01A-11D-A29Q-08		79094374	2100836	23	7125											
DOCK6	57572	broad.mit.edu	37	chr19	11348871	11348871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acagccactgaccggcagagCctggctggggtcctcgcctg	6	6	14	15	2	0	2	0	1	0	1	2	2	1	2	5	4	2	2	5	4	0	0			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr19:11348871C>T	uc002mqs.4	-	14	1794	c.1753G>A	c.(1753-1755)Gct>Act	p.A585T	DOCK6_uc010xlq.2_5'Flank|C19orf80_uc021upf.1_Non-coding_Transcript|C19orf80_uc010dxw.3_Intron|C19orf80_uc021upg.1_5'Flank	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	585	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						ACCGGCAGAGCCTGGCTGGGG	0.637													6	105					0	0	1	0	0	T	11348871	C	T	11348871	3	4	158	1	0	0	0	0	1	0	0	0	4691	739	26	3	4526	3	DOCK6	19	11348871	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08		11348871	47780112	24	7126											
CIC	23152	broad.mit.edu	37	chr19	42798816	42798817	+	Frame_Shift_Ins	INS	-	-	GCGG																															aaggtgccatactcctccctINSgcggcgcaccctggaccagc																										TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr19:42798816_42798817insGCGG	uc002otf.1	+	18	4428_4429	c.4388_4389insGCGG	c.(4387-4389)ctgfs	p.L1463fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1463					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TACTCCTCCCTGCGGCGCACCC	0.629			"Mis, F, S"		oligodendroglioma								22	31	---	---	---	---						GCGG	42798817	-	GCGG	42798816	7	5	158	1	0	1	1	0	0	0	0	0	3424	1580	55	0	4462	0	CIC	19	42798816	Frame_Shift_Ins	INS	-	TCGA-FG-A60K-01A-11D-A29Q-08	31449945	42798816	16330167	25	7127											
FAM65C	140876	broad.mit.edu	37	chr20	49224997	49224997	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacgatgacctgcggccgCgtcgtgaagaagtcggcgat	9	6	14	12	7	0	3	0	2	0	1	2	5	0	3	3	2	1	0	3	2	2	0			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr20:49224997C>T	uc010zyt.2	-	10	1136	c.885G>A	c.(883-885)acG>acA	p.T295T	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Silent_p.T291T|FAM65C_uc002xvn.1_Silent_p.T291T	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	291										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTGCGGCCGCGTCGTGAAGA	0.662													64	92					0	0	1	0	0	T	49224997	C	T	49224997	2	4	158	1	0	0	0	0	0	0	0	1	5601	755	27	1		1	FAM65C	20	49224997	Silent	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08		49224997	13800523	26	7128											
CRYAA	1409	broad.mit.edu	37	chr21	44592355	44592355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgagccatccccgtgtcgCgggaggagaagcccacctcg	8	4	14	15	5	0	1	0	0	0	1	3	4	1	2	5	2	3	0	5	2	1	0			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr21:44592355C>T	uc002zdd.1	+	2	556	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W		NM_000394	NP_000385	P02489	CRYAA_HUMAN	Homo sapiens crystallin, alpha A (CRYAA), mRNA.	163					anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CCCCGTGTCGCGGGAGGAGAA	0.677													34	37					0	0	1	0	0	T	44592355	C	T	44592355	3	4	158	1	0	0	0	0	1	0	0	0	3905	759	27	1	497	1	CRYAA	21	44592355	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08		44592355	3537540	27	7129											
SLC35E4	339665	broad.mit.edu	37	chr22	31032741	31032741	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accggggggcacggcgccccAtgccaggcggcactcgctgc	5	3	16	17	5	0	0	0	0	0	0	1	0	0	0	4	6	2	3	4	6	0	0			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr22:31032741A>G	uc003ais.1	+	0	949	c.304A>G	c.(304-306)Atg>Gtg	p.M102V	SLC35E4_uc003ait.3_Missense_Mutation_p.M90V	NM_001001479	NP_001001479	Q6ICL7	S35E4_HUMAN	Homo sapiens solute carrier family 35, member E4 (SLC35E4), mRNA.	102						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						ACGGCGCCCCATGCCAGGCGG	0.687													10	27					0	0	1	0	0	G	31032741	A	G	31032741	3	3	158	1	0	0	0	0	1	0	0	0	14587	217	8	3	306	3	SLC35E4	22	31032741	Missense_Mutation	SNP	A	TCGA-FG-A60K-01A-11D-A29Q-08		31032741	20271825	28	7130											
MED12	9968	broad.mit.edu	37	chrX	70346299	70346299	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgacctcatggaatattcaCtcagcatcagtggcctcatc	10	11	7	13	1	5	0	5	0	0	0	7	2	5	1	2	2	1	1	2	2	2	2			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chrX:70346299C>G	uc004dyy.3	+	18	2849	c.2650C>G	c.(2650-2652)Ctc>Gtc	p.L884V	MED12_uc011mpq.1_Missense_Mutation_p.L884V|MED12_uc004dyz.3_Missense_Mutation_p.L884V|MED12_uc004dza.3_Missense_Mutation_p.L731V	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	884					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGAATATTCACTCAGCATCAG	0.532			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						42	127					0	0	1	0	0	G	70346299	C	G	70346299	3	3	158	1	0	0	0	0	1	0	0	0	9428	565	20	5	2724	5	MED12	23	70346299	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08		70346299	84924261	29	7131											
ZMYM3	9203	broad.mit.edu	37	chrX	70463798	70463798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctcagcagctgagcaggCgagaatatcctctttgatac	11	9	11	10	1	2	3	1	2	1	1	3	5	3	3	1	1	5	4	1	1	3	3			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chrX:70463798C>T	uc004dzh.2	-	20	3492	c.3313G>A	c.(3313-3315)Gcc>Acc	p.A1105T	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Missense_Mutation_p.A1105T|ZMYM3_uc004dzj.2_Missense_Mutation_p.A1093T	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	1105					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GCTGAGCAGGCGAGAATATCC	0.458													32	36					0	0	1	0	0	T	70463798	C	T	70463798	3	4	158	1	0	0	0	0	1	0	0	0	17698	768	27	1	819	1	ZMYM3	23	70463798	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08	117499	70463798	84806762	30	7132											
CD46	4179	broad.mit.edu	37	chr1	207930382	207930382	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgtgaggagccaccaacaTttgaagctatggagctcatt	11	10	10	10	0	1	2	1	2	0	0	1	4	1	4	3	2	4	2	3	2	3	3			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr1:207930382T>C	uc001hgc.3	+	1	296	c.121T>C	c.(121-123)Ttt>Ctt	p.F41L	CD46_uc001hgg.3_Missense_Mutation_p.F41L|CD46_uc001hgh.3_Missense_Mutation_p.F41L|CD46_uc001hgi.3_Missense_Mutation_p.F41L|CD46_uc001hgj.3_Missense_Mutation_p.F41L|CD46_uc001hgm.3_Missense_Mutation_p.F41L|CD46_uc001hgl.3_Missense_Mutation_p.F41L|CD46_uc001hgp.3_Missense_Mutation_p.F41L	NM_002389	NP_002380	P15529	MCP_HUMAN	Homo sapiens CD46 molecule, complement regulatory protein (CD46), transcript variant a, mRNA.	41	Sushi 1.				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						GCCACCAACATTTGAAGCTAT	0.413													28	39					0	0	1	0	0	C	207930382	T	C	207930382	3	2	159	1	0	0	0	0	1	0	0	0	3018	1493	52	3	127	3	CD46	1	207930382	Missense_Mutation	SNP	T	TCGA-FN-7833-01A-11D-2086-08		207930382	41320239	1	7133											
COL5A2	1290	broad.mit.edu	37	chr2	189927953	189927953	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgggctgccctctgattcctAtggagcctggaggacctgga	6	9	14	12	1	1	1	0	1	1	0	2	5	2	5	4	5	2	1	4	5	1	2			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr2:189927953A>G	uc002uqk.3	-	26	2089	c.1814T>C	c.(1813-1815)aTa>aCa	p.I605T	COL5A2_uc010frx.3_Missense_Mutation_p.I181T	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	605					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCTGATTCCTATGGAGCCTGG	0.512													48	75					0	0	1	0	0	G	189927953	A	G	189927953	3	3	159	1	0	0	0	0	1	0	0	0	3697	449	16	3	2797	3	COL5A2	2	189927953	Missense_Mutation	SNP	A	TCGA-FN-7833-01A-11D-2086-08		189927953	53271420	2	7134											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								34	63					0	0	1	0	0	T	209113112	C	T	209113112	3	4	159	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FN-7833-01A-11D-2086-08	19185159	209113112	34086261	3	7135											
IRS1	3667	broad.mit.edu	37	chr2	227662186	227662186	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccgaggagatgaaaccGccatcgctgggggaaccaga	12	5	13	11	3	1	3	1	1	0	2	3	6	2	4	4	3	2	1	4	3	2	0			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr2:227662186G>A	uc021vxn.1	-	0	1269	c.1269C>T	c.(1267-1269)ggC>ggT	p.G423G	IRS1_uc002voh.4_Silent_p.G423G	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	423	Ser-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		AGATGAAACCGCCATCGCTGG	0.607											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	148					0	0	1	0	0	A	227662186	G	A	227662186	2	1	159	1	0	0	0	0	0	0	0	1	7840	1074	38	1		1	IRS1	2	227662186	Silent	SNP	G	TCGA-FN-7833-01A-11D-2086-08	18549074	227662186	15537187	4	7136											
RAD54L2	23132	broad.mit.edu	37	chr3	51624506	51624508	+	In_Frame_Del	DEL	GAG	GAG	-																															tggagctggaggatgcggaaGaggaggaggaggaggaggag																										TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr3:51624506_51624508delGAG	uc011bdt.2	+	1	195_197	c.70_72delGAG	c.(70-72)gagdel	p.E30del	RAD54L2_uc003dbh.3_5'UTR	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	30						nucleus	ATP binding|DNA binding|helicase activity	p.E30V(1)		NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		ggatgcggaagaggaggaggagg	0.586													2	4	---	---	---	---						-	51624508	GAG	-	51624506	7	5	159	1	0	1	0	1	0	0	0	0	12994	943	33	0	72	0	RAD54L2	3	51624506	In_Frame_Del	DEL	GAG	TCGA-FN-7833-01A-11D-2086-08		51624506	146397924	5	7137											
NIPBL	25836	broad.mit.edu	37	chr5	37044565	37044565	+	Frame_Shift_Del	DEL	G	G	-																															attgaggaagatctaatgaaGctcatcatcaaatatggcat																										TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr5:37044565delG	uc003jkl.4	+	34	6724	c.6225delG	c.(6223-6225)aagfs	p.K2075fs	NIPBL_uc003jkk.4_Frame_Shift_Del_p.K2075fs	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	2075					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATCTAATGAAGCTCATCATCA	0.328													48	68	---	---	---	---						-	37044565	G	-	37044565	7	5	159	1	0	1	0	1	0	0	0	0	10428	962	34	0	6359	0	NIPBL	5	37044565	Frame_Shift_Del	DEL	G	TCGA-FN-7833-01A-11D-2086-08		37044565	143870695	6	7138											
BTN2A1	11120	broad.mit.edu	37	chr6	26458908	26458908	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcccggccagcctcccTcctcctcctcctcctcagcc	2	10	4	25	1	2	0	1	0	1	0	9	0	8	0	10	1	2	0	10	1	0	1			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr6:26458908T>C	uc003nib.2	+	1	292	c.44T>C	c.(43-45)cTc>cCc	p.L15P	BTN2A1_uc021yni.1_Missense_Mutation_p.L15P|BTN2A1_uc003nic.2_Missense_Mutation_p.L15P|BTN2A1_uc011dko.2_Intron	NM_007049	NP_001184162	Q7KYR7	BT2A1_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A1 (BTN2A1), transcript variant 1, mRNA.	15					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CCAGCCTCCCTCCTCCTCCTC	0.582													5	183					0	0	1	0	0	C	26458908	T	C	26458908	3	2	159	1	0	0	0	0	1	0	0	0	1560	1551	54	4	46	4	BTN2A1	6	26458908	Missense_Mutation	SNP	T	TCGA-FN-7833-01A-11D-2086-08		26458908	144656159	7	7139											
PRDM1	639	broad.mit.edu	37	chr6	106553131	106553131	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggtgtcccctgtgggccccGgctctcaagagcaccgggac	5	6	14	16	3	1	1	1	0	1	1	3	2	2	2	5	4	1	2	5	4	1	0			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr6:106553131G>T	uc003prd.2	+	4	1330	c.1096G>T	c.(1096-1098)Ggc>Tgc	p.G366C	PRDM1_uc003pre.3_Missense_Mutation_p.G232C	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	366					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TGTGGGCCCCGGCTCTCAAGA	0.647			"D, N, Mis, F, S"		DLBCL								3	56					1	1	1	1	0	T	106553131	G	T	106553131	3	4	159	1	0	0	0	0	1	0	0	0	12450	1116	39	5	1127	5	PRDM1	6	106553131	Missense_Mutation	SNP	G	TCGA-FN-7833-01A-11D-2086-08	80094223	106553131	64561936	8	7140											
KPNA5	3841	broad.mit.edu	37	chr6	117019898	117019898	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaatagatcaagttatacaGaaaccaggagttgtacagag	17	8	9	7	0	1	3	1	0	0	3	1	4	1	4	2	1	3	3	2	1	7	5			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr6:117019898G>C	uc003pxh.3	+	4	503	c.372G>C	c.(370-372)caG>caC	p.Q124H		NM_002269	NP_002260	O15131	IMA5_HUMAN	Homo sapiens karyopherin alpha 5 (importin alpha 6) (KPNA5), mRNA.	121					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		AAGTTATACAGAAACCAGGAG	0.299													4	19					0	0	1	0	0	C	117019898	G	C	117019898	3	2	159	1	0	0	0	0	1	0	0	0	8433	933	33	5	390	5	KPNA5	6	117019898	Missense_Mutation	SNP	G	TCGA-FN-7833-01A-11D-2086-08	10466767	117019898	54095169	9	7141											
ABCA13	154664	broad.mit.edu	37	chr7	48390284	48390284	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accatgcaggcgctggacgcTtccgtttcttgggcagcatc	6	10	12	13	3	1	0	0	0	1	0	3	1	2	1	2	3	2	6	2	3	0	3			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr7:48390284T>C	uc003toq.2	+	29	10273	c.10249T>C	c.(10249-10251)Ttc>Ctc	p.F3417L	ABCA13_uc010kys.1_Missense_Mutation_p.F491L|ABCA13_uc003tos.1_Missense_Mutation_p.F243L	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3417					transport	integral to membrane	ATP binding|ATPase activity	p.K3416N(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CGCTGGACGCTTCCGTTTCTT	0.522													42	70					0	0	1	0	0	C	48390284	T	C	48390284	3	2	159	1	0	0	0	0	1	0	0	0	31	1609	56	4	10196	4	ABCA13	7	48390284	Missense_Mutation	SNP	T	TCGA-FN-7833-01A-11D-2086-08		48390284	110748379	10	7142											
TRPV5	56302	broad.mit.edu	37	chr7	142630466	142630466	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaagcttgtccaggtgctGgtcccagtcttgttctctga	6	14	11	10	0	2	2	0	2	2	0	5	2	4	2	2	2	2	3	2	2	1	3			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr7:142630466G>T	uc003wby.1	-	0	355	c.91C>A	c.(91-93)Cag>Aag	p.Q31K	TRPV5_uc003wbz.3_Missense_Mutation_p.Q31K	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	31					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.Q31K(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TCCAGGTGCTGGTCCCAGTCT	0.567													4	97					1.23904e-05	1.32754e-05	1	1	0	T	142630466	G	T	142630466	3	4	159	1	0	0	0	0	1	0	0	0	16596	1357	47	5	2158	5	TRPV5	7	142630466	Missense_Mutation	SNP	G	TCGA-FN-7833-01A-11D-2086-08	94240182	142630466	16508197	11	7143											
ZC3H3	23144	broad.mit.edu	37	chr8	144620440	144620440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaccctggcttggaggacGtggctggcttcctgggcttg	4	10	16	11	1	0	1	0	0	0	1	1	3	1	3	2	6	0	4	2	6	0	3			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr8:144620440G>A	uc003yyd.2	-	1	1126	c.1097C>T	c.(1096-1098)aCg>aTg	p.T366M		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	366					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CTTGGAGGACGTGGCTGGCTT	0.627													4	130					0	0	1	0	0	A	144620440	G	A	144620440	3	1	159	1	0	0	0	0	1	0	0	0	17566	1145	40	1	1793	1	ZC3H3	8	144620440	Missense_Mutation	SNP	G	TCGA-FN-7833-01A-11D-2086-08		144620440	1743582	12	7144											
DOCK8	81704	broad.mit.edu	37	chr9	371468	371468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtgaaaattaagctccccGctaagctcacagtaaatcac	16	8	6	11	1	2	1	2	1	0	0	3	1	3	1	2	0	2	4	2	0	7	3			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr9:371468G>A	uc003zgf.2	+	16	2021	c.1909G>A	c.(1909-1911)Gct>Act	p.A637T	DOCK8_uc022bcu.1_Missense_Mutation_p.A569T|DOCK8_uc010mgv.3_Missense_Mutation_p.A569T|DOCK8_uc010mgu.3_5'UTR|DOCK8_uc010mgw.2_Intron|DOCK8_uc003zgk.2_Missense_Mutation_p.A95T|DOCK8_uc022bct.1_Non-coding_Transcript	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	637					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TAAGCTCCCCGCTAAGCTCAC	0.418													51	67					0	0	1	0	0	A	371468	G	A	371468	3	1	159	1	0	0	0	0	1	0	0	0	4693	1087	38	1	1975	1	DOCK8	9	371468	Missense_Mutation	SNP	G	TCGA-FN-7833-01A-11D-2086-08		371468	140841963	13	7145											
MBL2	4153	broad.mit.edu	37	chr10	54527961	54527961	+	Frame_Shift_Del	DEL	T	T	-																															ggacgtcattccactggccaTttttcagtagcaatacacaa																										TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr10:54527961delT	uc001jjt.3	-	3	748	c.683delA	c.(682-684)aatfs	p.N228fs		NM_000242	NP_000233	P11226	MBL2_HUMAN	Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA.	228	C-type lectin.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						CCACTGGCCATTTTTCAGTAG	0.483													7	579	---	---	---	---						-	54527961	T	-	54527961	7	5	159	1	0	1	0	1	0	0	0	0	9350	1493	52	0	67	0	MBL2	10	54527961	Frame_Shift_Del	DEL	T	TCGA-FN-7833-01A-11D-2086-08		54527961	81006786	14	7146											
OR51F2	119694	broad.mit.edu	37	chr11	4842846	4842846	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcctatgtactatttcctCtctatgctttcagccacaga	10	14	5	12	0	2	1	1	0	1	1	4	1	3	1	3	0	4	2	3	0	5	6			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr11:4842846C>T	uc010qyn.2	+	0	231	c.231C>T	c.(229-231)ctC>ctT	p.L77L		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTATTTCCTCTCTATGCTTT	0.458													35	159					0	0	1	0	0	T	4842846	C	T	4842846	2	4	159	1	0	0	0	0	0	0	0	1	11097	900	32	3		3	OR51F2	11	4842846	Silent	SNP	C	TCGA-FN-7833-01A-11D-2086-08		4842846	130163670	15	7147											
EXPH5	23086	broad.mit.edu	37	chr11	108383673	108383673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtgcattttgagtatcaGtcagtgcagagctccagtgg	9	13	12	7	0	2	2	2	1	0	1	3	2	3	2	1	1	3	4	1	1	1	4			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr11:108383673G>A	uc001pkk.3	-	5	2672	c.2561C>T	c.(2560-2562)aCt>aTt	p.T854I	EXPH5_uc010rvz.2_Missense_Mutation_p.T698I|EXPH5_uc010rvy.2_Missense_Mutation_p.T666I	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	854					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTGAGTATCAGTCAGTGCAGA	0.403													41	120					0	0	1	0	0	A	108383673	G	A	108383673	3	1	159	1	0	0	0	0	1	0	0	0	5322	1029	36	3	3412	3	EXPH5	11	108383673	Missense_Mutation	SNP	G	TCGA-FN-7833-01A-11D-2086-08	103540827	108383673	26622843	16	7148											
CCDC60	160777	broad.mit.edu	37	chr12	119909950	119909950	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaagatctcagaaatccacTatggggacaccttattgagg	15	9	9	8	0	1	3	1	1	1	2	3	4	2	4	2	3	0	0	2	3	5	3			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr12:119909950T>C	uc001txe.3	+	2	787	c.322T>C	c.(322-324)Tat>Cat	p.Y108H	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	108										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AGAAATCCACTATGGGGACAC	0.448													19	272					0	0	1	0	0	C	119909950	T	C	119909950	3	2	159	1	0	0	0	0	1	0	0	0	2831	1522	53	4	332	4	CCDC60	12	119909950	Missense_Mutation	SNP	T	TCGA-FN-7833-01A-11D-2086-08		119909950	13941945	17	7149											
TPSAB1	7177	broad.mit.edu	37	chr16	1291161	1291161	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcacctgccccagccccaggCcaggccctgcagcgagtggg	6	3	14	18	1	0	0	0	0	0	0	0	1	0	0	7	3	4	2	7	3	0	0			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr16:1291161C>T	uc002ckz.3	+	2	121	c.69C>T	c.(67-69)ggC>ggT	p.G23G	TPSAB1_uc010uux.2_5'UTR	NM_003294	NP_003285	P20231	TRYB2_HUMAN	Homo sapiens tryptase alpha/beta 1 (TPSAB1), mRNA.	23					proteolysis	extracellular region	protein binding|serine-type endopeptidase activity	p.G23V(1)		NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				CAGCCCCAGGCCAGGCCCTGC	0.716													4	44					0	0	1	0	0	T	1291161	C	T	1291161	2	4	159	1	0	0	0	0	0	0	0	1	16420	726	26	3		3	TPSAB1	16	1291161	Silent	SNP	C	TCGA-FN-7833-01A-11D-2086-08		1291161	89063592	18	7150											
IFT140	9742	broad.mit.edu	37	chr16	1634358	1634358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagtgtgacgacatggcccGctcgctgaggatggccacgg	8	6	16	11	4	0	2	0	2	0	0	1	5	0	3	2	4	0	2	2	4	1	0			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr16:1634358G>A	uc002cmb.3	-	10	1581	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W	IFT140_uc002clz.3_Missense_Mutation_p.R58W	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	407										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GACATGGCCCGCTCGCTGAGG	0.587													3	32					0	0	1	0	0	A	1634358	G	A	1634358	3	1	159	1	0	0	0	0	1	0	0	0	7556	1086	38	1	3253	1	IFT140	16	1634358	Missense_Mutation	SNP	G	TCGA-FN-7833-01A-11D-2086-08	343197	1634358	88720395	19	7151											
FAHD1	81889	broad.mit.edu	37	chr16	1877307	1877307	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcgtctgcgtggggaggaActacgcggaccacgtcaggg	8	6	16	11	5	2	0	1	0	1	0	3	3	2	3	1	5	3	0	1	5	2	1			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr16:1877307A>T	uc002cnc.1	+	0	83	c.77A>T	c.(76-78)aAc>aTc	p.N26I	HAGH_uc002cmz.3_5'Flank|HAGH_uc002cna.3_5'Flank|HAGH_uc010uvp.2_5'Flank|HAGH_uc010bry.1_5'Flank|FAHD1_uc002cnd.3_Missense_Mutation_p.N26I|FAHD1_uc010brz.3_Missense_Mutation_p.N26I	NM_031208	NP_112485	Q6P587	FAHD1_HUMAN	Homo sapiens fumarylacetoacetate hydrolase domain containing 1 (FAHD1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	26						mitochondrion	hydrolase activity|metal ion binding|protein binding			NS(1)|large_intestine(1)|liver(1)|ovary(2)|urinary_tract(1)	6						GTGGGGAGGAACTACGCGGAC	0.642													4	102					0	0	1	0	0	T	1877307	A	T	1877307	3	4	159	1	0	0	0	0	1	0	0	0	5372	43	2	5	79	5	FAHD1	16	1877307	Missense_Mutation	SNP	A	TCGA-FN-7833-01A-11D-2086-08	242949	1877307	88477446	20	7152											
PRPF8	10594	broad.mit.edu	37	chr17	1557307	1557307	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgtcagtgatgccacgttCacactgtggggatggtgtgg	6	12	16	7	1	2	1	2	1	0	0	2	2	2	2	1	4	1	1	1	4	0	1			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr17:1557307C>T	uc002fte.3	-	37	6105	c.5991G>A	c.(5989-5991)gtG>gtA	p.V1997V		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1997	Involved in interaction with pre-mRNA 5' splice site.					U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATGCCACGTTCACACTGTGGG	0.517													42	188					0	0	1	0	0	T	1557307	C	T	1557307	2	4	159	1	0	0	0	0	0	0	0	1	12575	813	29	3		3	PRPF8	17	1557307	Silent	SNP	C	TCGA-FN-7833-01A-11D-2086-08		1557307	79637903	21	7153											
TP53	7157	broad.mit.edu	37	chr17	7577099	7577099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcctctgtgcgccggtctCtcccaggacaggcacaaaca	8	8	9	16	2	2	0	0	0	2	0	5	1	4	1	3	3	2	1	3	3	1	1	rs121912660		TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr17:7577099C>T	uc002gim.2	-	7	1033	c.839G>A	c.(838-840)aGa>aAa	p.R280K	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R280K|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R148K|TP53_uc010cnf.1_Missense_Mutation_p.R148K|TP53_uc002gii.1_Missense_Mutation_p.R148K|TP53_uc010cni.1_Missense_Mutation_p.R280K|TP53_uc010cnh.1_Missense_Mutation_p.R280K|TP53_uc002gij.2_Missense_Mutation_p.R280K|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.	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A 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(126)|p.R280K(96)|p.G279E(31)|p.R280I(30)|p.R280G(19)|p.R280S(15)|p.R280fs*65(8)|p.G279R(8)|p.R280*(8)|p.0?(8)|p.G279V(4)|p.R280_D281delRD(4)|p.G279G(3)|p.R280R(3)|p.A276_R283delACPGRDRR(2)|p.G279_R280delGR(2)|p.R280fs*62(2)|p.G279W(2)|p.G279fs*59(2)|p.F270_D281del12(2)|p.C275_R283delCACPGRDRR(2)|p.?(2)|p.L265_K305del41(2)|p.V272_K292del21(2)|p.G279fs*65(2)|p.G279fs*27(2)|p.A276fs*64(1)|p.S269fs*21(1)|p.P278_G279insXXXXX(1)|p.D281fs*24(1)|p.C275fs*20(1)|p.G279fs*26(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)		GCGCCGGTCTCTCCCAGGACA	0.542		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)			18	25					0	0	1	0	0	T	7577099	C	T	7577099	3	4	159	1	0	0	0	0	1	0	0	0	16378	913	32	3	447	3	TP53	17	7577099	Missense_Mutation	SNP	C	TCGA-FN-7833-01A-11D-2086-08	6019792	7577099	73618111	22	7154											
TP53	7157	broad.mit.edu	37	chr17	7578474	7578475	+	Frame_Shift_Ins	INS	-	-	GG																															cgcggacgcgggtgccgggcINSgggggtgtggaatcaaccca																								rs137852790		TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr17:7578474_7578475insGG	uc002gim.2	-	4	649_650	c.455_456insCC	c.(454-456)ccgfs	p.P152fs	TP53_uc002gig.1_Frame_Shift_Ins_p.P152fs|TP53_uc002gih.3_Frame_Shift_Ins_p.P152fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Ins_p.P20fs|TP53_uc010cnf.1_Frame_Shift_Ins_p.P20fs|TP53_uc002gii.1_Frame_Shift_Ins_p.P20fs|TP53_uc010cni.1_Frame_Shift_Ins_p.P152fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.P152fs|TP53_uc002gij.2_Frame_Shift_Ins_p.P152fs|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Frame_Shift_Ins_p.P59fs|TP53_uc002gio.2_Frame_Shift_Ins_p.P20fs|TP53_uc010vug.2_Frame_Shift_Ins_p.P113fs	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	152	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P152L(129)|p.P151S(66)|p.P151H(27)|p.P152fs*18(23)|p.P152S(22)|p.P152R(14)|p.P151T(14)|p.P151P(12)|p.P152P(10)|p.P152fs*14(10)|p.P153fs*28(9)|p.P151A(9)|p.P152Q(8)|p.0?(8)|p.P152T(7)|p.P151L(7)|p.P151fs*30(7)|p.P151R(7)|p.T150fs*16(6)|p.P152fs*29(5)|p.?(5)|p.P152fs*28(4)|p.P59L(2)|p.P151_V173del23(2)|p.P152_P153del(2)|p.P152fs*27(2)|p.P20L(2)|p.D148_T155delDSTPPPGT(2)|p.T150_P153delTPPP(2)|p.Q144_G154del11(2)|p.P152_P153insXXX(2)|p.P152A(2)|p.P153fs*16(1)|p.G154fs*16(1)|p.P20R(1)|p.P59R(1)|p.T57fs*16(1)|p.P151del(1)|p.P153fs*20(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.G154fs*27(1)|p.Q144fs*16(1)|p.T18fs*16(1)|p.T150_P151delTP(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)		GGGTGCCGGGCGGGGGTGTGGA	0.614		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)			44	89	---	---	---	---						GG	7578475	-	GG	7578474	7	5	159	1	0	1	1	0	0	0	0	0	16378	755	27	0	842	0	TP53	17	7578474	Frame_Shift_Ins	INS	-	TCGA-FN-7833-01A-11D-2086-08	1375	7578474	73616736	23	7155											
MYO15A	51168	broad.mit.edu	37	chr17	18024582	18024582	+	Frame_Shift_Del	DEL	C	C	-																															gccccgctcgctgcaggagtCcccagccccacgccgagccg																										TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr17:18024582delC	uc021trm.1	+	0	2687	c.2468delC	c.(2467-2469)tccfs	p.S823fs	MYO15A_uc021trl.1_Frame_Shift_Del_p.S823fs	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	823	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTGCAGGAGTCCCCAGCCCCA	0.801													2	4	---	---	---	---						-	18024582	C	-	18024582	7	5	159	1	0	1	0	1	0	0	0	0	10063	855	30	0	2470	0	MYO15A	17	18024582	Frame_Shift_Del	DEL	C	TCGA-FN-7833-01A-11D-2086-08	10446108	18024582	63170628	24	7156											
SPOP	8405	broad.mit.edu	37	chr17	47688737	47688737	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacagtcctcctaactcaTctgccagccggcactcagga	9	7	7	18	1	3	0	2	0	1	0	5	1	5	1	5	2	3	1	5	2	1	1			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr17:47688737T>G	uc002ipg.3	-	5	860	c.563A>C	c.(562-564)gAt>gCt	p.D188A	SPOP_uc010dbk.3_Missense_Mutation_p.D188A|SPOP_uc002ipb.3_Missense_Mutation_p.D188A|SPOP_uc002ipc.3_Missense_Mutation_p.D188A|SPOP_uc002ipd.3_Missense_Mutation_p.D188A|SPOP_uc002ipe.3_Missense_Mutation_p.D188A|SPOP_uc002ipf.3_Missense_Mutation_p.D188A	NM_001007228	NP_003554	O43791	SPOP_HUMAN	Homo sapiens speckle-type POZ protein (SPOP), transcript variant 4, mRNA.	188	BTB.|Required for nuclear localization.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TCCTAACTCATCTGCCAGCCG	0.502										Prostate(2;0.17)			102	148					0	0	1	0	0	G	47688737	T	G	47688737	3	3	159	1	0	0	0	0	1	0	0	0	15083	1435	50	5	581	5	SPOP	17	47688737	Missense_Mutation	SNP	T	TCGA-FN-7833-01A-11D-2086-08	29664155	47688737	33506473	25	7157											
CABLES1	91768	broad.mit.edu	37	chr18	20716015	20716023	+	In_Frame_Del	DEL	GGCGCCGGC	GGCGCCGGC	-																															agggcggcgcggccaagccgGgcgccggcggcgcctgcggc																										TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr18:20716015_20716023delGGCGCCGGC	uc002kuc.2	+	0	289_297	c.289_297delGGCGCCGGC	c.(289-297)ggcgccggcdel	p.GAG97del	CABLES1_uc002kub.2_Intron	NM_001100619	NP_001094089	Q8TDN4	CABL1_HUMAN	Homo sapiens Cdk5 and Abl enzyme substrate 1 (CABLES1), transcript variant 2, mRNA.	97	Ala-rich.|Interacts with TDRD7 (By similarity).				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ggccaagccgggcgccggcggcgcctgcg	0.785													5	1	---	---	---	---						-	20716023	GGCGCCGGC	-	20716015	7	5	159	1	0	1	0	1	0	0	0	0	2529	1232	43	0	291	0	CABLES1	18	20716015	In_Frame_Del	DEL	GGCGCCGGC	TCGA-FN-7833-01A-11D-2086-08		20716015	57361233	26	7158											
OR1M1	125963	broad.mit.edu	37	chr19	9204306	9204306	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcgtggccatctgccaccCattgcactacgccaagatca	9	9	8	15	2	2	1	1	0	1	1	3	1	2	1	4	1	3	2	4	1	2	3			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr19:9204306C>T	uc010xkj.2	+	0	386	c.386C>T	c.(385-387)cCa>cTa	p.P129L		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ATCTGCCACCCATTGCACTAC	0.552													26	55					0	0	1	0	0	T	9204306	C	T	9204306	3	4	159	1	0	0	0	0	1	0	0	0	10968	594	21	3	388	3	OR1M1	19	9204306	Missense_Mutation	SNP	C	TCGA-FN-7833-01A-11D-2086-08		9204306	49924677	27	7159											
ATRX	546	broad.mit.edu	37	chrX	76855018	76855019	+	Frame_Shift_Ins	INS	-	-	T																															cttccacttgagctactatcINSttttttcccctttttccctt																										TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chrX:76855018_76855019insT	uc004ecp.4	-	24	6049_6050	c.5817_5818insA	c.(5815-5820)aaagatfs	p.K1939fs	ATRX_uc004ecq.4_Frame_Shift_Ins_p.K1901fs|ATRX_uc004eco.4_Frame_Shift_Ins_p.K1724fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1939	Poly-Lys.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.D1940fs*14(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GAGCTACTATCTTTTTTCCCCT	0.356			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						204	90	---	---	---	---						T	76855019	-	T	76855018	7	5	159	1	0	1	1	0	0	0	0	0	1208	913	32	0	1704	0	ATRX	23	76855018	Frame_Shift_Ins	INS	-	TCGA-FN-7833-01A-11D-2086-08		76855018	78415542	28	7160											
COL4A5	1287	broad.mit.edu	37	chrX	107821211	107821211	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccaccaggacttccaggAcctaaggtaattttcttttt	9	14	8	10	0	1	0	0	0	1	0	3	2	3	2	4	4	0	1	4	4	2	7			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chrX:107821211A>T	uc022ccg.1	+	10	841	c.639A>T	c.(637-639)ggA>ggT	p.G213G	COL4A5_uc004enz.1_Silent_p.G213G	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	213	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GACTTCCAGGACCTAAGGTAA	0.328									Alport syndrome with Diffuse Leiomyomatosis				18	1					0	0	1	0	0	T	107821211	A	T	107821211	2	4	159	1	0	0	0	0	0	0	0	1	3694	262	10	5		5	COL4A5	23	107821211	Silent	SNP	A	TCGA-FN-7833-01A-11D-2086-08	30966193	107821211	47449349	29	7161											
THOC2	57187	broad.mit.edu	37	chrX	122758005	122758005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatcaaatccagttgccCgtaatatggtaaggaatcct	13	10	7	11	1	1	0	1	0	0	0	3	1	3	1	4	2	1	3	4	2	5	4			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chrX:122758005C>T	uc004etu.3	-	26	3256	c.3224G>A	c.(3223-3225)cGg>cAg	p.R1075Q	THOC2_uc010nqt.1_5'Flank|THOC2_uc004etw.1_5'Flank	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	1075					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding|protein binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TCCAGTTGCCCGTAATATGGT	0.328													27	4					0	0	1	0	0	T	122758005	C	T	122758005	3	4	159	1	0	0	0	0	1	0	0	0	15862	652	23	2	1605	2	THOC2	23	122758005	Missense_Mutation	SNP	C	TCGA-FN-7833-01A-11D-2086-08	14936794	122758005	32512555	30	7162											
PADI2	11240	broad.mit.edu	37	chr1	17413096	17413096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaaacagaggccttccaCgaagaacagcagctccgcgg	12	3	14	12	3	0	2	0	0	0	2	2	4	2	3	3	4	4	2	3	4	3	1			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:17413096C>T	uc001baf.3	-	6	836	c.754G>A	c.(754-756)Gtg>Atg	p.V252M	PADI2_uc010ocm.2_Silent_p.S170S|PADI2_uc001bag.1_Missense_Mutation_p.V252M	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA.	252					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	AGGCCTTCCACGAAGAACAGC	0.617													12	59					0	0	1	0	0	T	17413096	C	T	17413096	3	4	160	1	0	0	0	0	1	0	0	0	11378	536	19	1	1283	1	PADI2	1	17413096	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08		17413096	231837525	1	7163											
EIF2C1	26523	broad.mit.edu	37	chr1	36379854	36379855	+	Frame_Shift_Ins	INS	-	-	A																															accccccagcaggggatgggINSaaaaaaccttctatcacagc																										TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:36379854_36379855insA	uc001bzl.3	+	13	2025_2026	c.1812_1813insA	c.(1810-1815)gggaaafs	p.G604fs	EIF2C1_uc001bzk.3_Frame_Shift_Ins_p.G529fs|EIF2C1_uc009vuy.3_Non-coding_Transcript	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.	604	Piwi.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding			biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAGGGGATGGGAAAAAACCTTC	0.48													19	65	---	---	---	---						A	36379855	-	A	36379854	7	5	160	1	0	1	1	0	0	0	0	0	5005	1161	41	0	1866	0	EIF2C1	1	36379854	Frame_Shift_Ins	INS	-	TCGA-HT-7467-01A-11D-2024-08	18966758	36379854	212870767	2	7164											
FUBP1	8880	broad.mit.edu	37	chr1	78435640	78435640	+	Nonsense_Mutation	SNP	A	A	C																															aaaggtcttttttgtcccccAtaaccatagtcatttgaatt																										TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:78435640A>C	uc001dii.3	-	1	269	c.180T>G	c.(178-180)taT>taG	p.Y60*	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Nonsense_Mutation_p.Y60*	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	60					transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TTTGTCCCCCATAACCATAGT	0.303			"F, N"		oligodendroglioma								13	29					0	0	1	0	0	C	78435640	A	C	78435640	4	2	160	1	0	0	0	0	0	1	0	0	6092	224	8	5	1830	5	FUBP1	1	78435640	Nonsense_Mutation	SNP	A	TCGA-HT-7467-01A-11D-2024-08	42055786	78435640	170814981	3	7165	28	2									
FUBP1	8880	broad.mit.edu	37	chr1	78435643	78435643	+	Silent	SNP	A	A	C																															ggtcttttttgtcccccataAccatagtcatttgaattcag																										TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:78435643A>C	uc001dii.3	-	1	266	c.177T>G	c.(175-177)ggT>ggG	p.G59G	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Silent_p.G59G	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	59					transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GTCCCCCATAACCATAGTCAT	0.308			"F, N"		oligodendroglioma								13	31					0	0	1	0	0	C	78435643	A	C	78435643	2	2	160	1	0	0	0	0	0	0	0	1	6092	30	2	5		5	FUBP1	1	78435643	Silent	SNP	A	TCGA-HT-7467-01A-11D-2024-08	3	78435643	170814978	4	7166	28	2									
EDEM3	80267	broad.mit.edu	37	chr1	184723669	184723669	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgggctcggcccccgccgTccacacggaggtggccgaca	6	4	14	17	5	0	0	0	0	0	0	2	2	1	1	5	5	0	1	5	5	0	0			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:184723669T>C	uc010pom.2	-	0	373	c.112A>G	c.(112-114)Acg>Gcg	p.T38A	EDEM3_uc010pok.2_Missense_Mutation_p.T38A|EDEM3_uc010pol.2_Non-coding_Transcript|EDEM3_uc001gqy.3_5'UTR	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 3 (EDEM3), mRNA.	38					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCCCCCGCCGTCCACACGGAG	0.692													4	42					0	0	1	0	0	C	184723669	T	C	184723669	3	2	160	1	0	0	0	0	1	0	0	0	4913	1667	58	3	2766	3	EDEM3	1	184723669	Missense_Mutation	SNP	T	TCGA-HT-7467-01A-11D-2024-08	106288026	184723669	64526952	5	7167											
PLA2G4A	5321	broad.mit.edu	37	chr1	186863284	186863284	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaactctagggacagcaacaTttactgtatcttctatgaag	14	12	7	8	0	3	1	0	1	3	0	3	2	3	2	0	1	4	2	0	1	7	6			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:186863284T>G	uc001gsc.3	+	4	524	c.319T>G	c.(319-321)Ttt>Gtt	p.F107V	PLA2G4A_uc010pos.2_Missense_Mutation_p.F107V	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	107	Phospholipid binding (Probable).				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	GACAGCAACATTTACTGTATC	0.333													20	46					0	0	1	0	0	G	186863284	T	G	186863284	3	3	160	1	0	0	0	0	1	0	0	0	12001	1493	52	5	333	5	PLA2G4A	1	186863284	Missense_Mutation	SNP	T	TCGA-HT-7467-01A-11D-2024-08	2139615	186863284	62387337	6	7168											
EPHX1	2052	broad.mit.edu	37	chr1	226032903	226032903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttttgagctattgcacaCgcctgaaaagtgggtgaggt	9	11	12	9	1	0	3	0	3	0	0	0	3	0	3	2	2	2	2	2	2	3	4	rs45495897	byFrequency	TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:226032903C>T	uc001hpk.3	+	8	1303	c.1223C>T	c.(1222-1224)aCg>aTg	p.T408M	EPHX1_uc001hpl.3_Missense_Mutation_p.T408M	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	Homo sapiens epoxide hydrolase 1, microsomal (xenobiotic) (EPHX1), transcript variant 2, mRNA.	408			T -> M (in dbSNP:rs45495897).		aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	p.T408K(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CTATTGCACACGCCTGAAAAG	0.567													9	84					0	0	1	0	0	T	226032903	C	T	226032903	3	4	160	1	0	0	0	0	1	0	0	0	5179	536	19	1	1253	1	EPHX1	1	226032903	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08	39169619	226032903	23217718	7	7169											
TRIM58	25893	broad.mit.edu	37	chr1	248028032	248028032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtggaaatgcagaggcagcGcttcagattggagtttgaga	12	9	15	5	1	1	3	1	1	0	3	1	6	1	5	0	3	2	4	0	3	1	3	rs147592698	by1000genomes	TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:248028032G>A	uc001ido.3	+	2	590	c.542G>A	c.(541-543)cGc>cAc	p.R181H		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	181						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	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)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CAGAGGCAGCGCTTCAGATTG	0.592													6	29					0	0	1	0	0	A	248028032	G	A	248028032	3	1	160	1	0	0	0	0	1	0	0	0	16528	1087	38	1	552	1	TRIM58	1	248028032	Missense_Mutation	SNP	G	TCGA-HT-7467-01A-11D-2024-08	21995129	248028032	1222589	8	7170											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								9	64					0	0	1	0	0	T	209113112	C	T	209113112	3	4	160	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08		209113112	34086261	9	7171											
SPEG	10290	broad.mit.edu	37	chr2	220349218	220349219	+	Frame_Shift_Del	DEL	CT	CT	-																															agcgcagccgcgagtcgcccCtgtcgctggggctgcggctg																										TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr2:220349218_220349219delCT	uc010fwg.3	+	29	7033_7034	c.7033_7034delCT	c.(7033-7035)ctgfs	p.L2345fs		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2345	Arg-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CGAGTCGCCCCTGTCGCTGGGG	0.698													7	14	---	---	---	---						-	220349219	CT	-	220349218	7	5	160	1	0	1	0	1	0	0	0	0	15035	680	24	0	7163	0	SPEG	2	220349218	Frame_Shift_Del	DEL	CT	TCGA-HT-7467-01A-11D-2024-08	11236106	220349218	22850155	10	7172											
CCDC158	339965	broad.mit.edu	37	chr4	77317545	77317545	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaagttccacttcatatttAgggaaaaaaggaacctgtgt	14	12	8	7	0	2	0	2	0	0	0	3	2	3	2	2	2	1	1	2	2	7	5			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr4:77317545A>G	uc003hkb.4	-	2	318	c.165T>C	c.(163-165)ccT>ccC	p.P55P	CCDC158_uc003hkd.3_Silent_p.P55P	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	55										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CTTCATATTTAGGGAAAAAAG	0.358													5	57					0	0	1	0	0	G	77317545	A	G	77317545	2	3	160	1	0	0	0	0	0	0	0	1	2790	407	15	4		4	CCDC158	4	77317545	Silent	SNP	A	TCGA-HT-7467-01A-11D-2024-08		77317545	113836731	11	7173											
SLCO4C1	353189	broad.mit.edu	37	chr5	101592891	101592891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acataaatacaaaactcagcGtaagtgcaactccagatgtg	17	8	7	9	1	1	1	1	0	0	1	2	1	2	1	1	0	5	2	1	0	7	3	rs145600550		TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr5:101592891G>A	uc003knm.3	-	7	1684	c.1397C>T	c.(1396-1398)aCg>aTg	p.T466M		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	466					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AAAACTCAGCGTAAGTGCAAC	0.353													5	45					0	0	1	0	0	A	101592891	G	A	101592891	3	1	160	1	0	0	0	0	1	0	0	0	14730	1145	40	1	801	1	SLCO4C1	5	101592891	Missense_Mutation	SNP	G	TCGA-HT-7467-01A-11D-2024-08		101592891	79322369	12	7174											
GPR110	266977	broad.mit.edu	37	chr6	46977421	46977421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataggtgatccattttacaaCggggaagattgtagagggga	13	10	14	4	1	0	3	0	1	0	2	1	5	1	5	1	5	2	1	1	5	5	5			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr6:46977421C>T	uc003oyt.3	-	10	1949	c.1750G>A	c.(1750-1752)Gtt>Att	p.V584I	GPR110_uc011dwl.2_Missense_Mutation_p.V272I	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	584					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P583P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CATTTTACAACGGGGAAGATT	0.428													7	73					0	0	1	0	0	T	46977421	C	T	46977421	3	4	160	1	0	0	0	0	1	0	0	0	6627	536	19	1	1002	1	GPR110	6	46977421	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08		46977421	124137646	13	7175											
DOCK5	80005	broad.mit.edu	37	chr8	25181376	25181376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttttcagccagagataaatCggagcgagcatttggggtgg	10	10	14	7	2	1	1	1	0	0	1	2	4	1	2	1	4	3	1	1	4	2	4			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr8:25181376C>T	uc003xeg.3	+	16	1765	c.1628C>T	c.(1627-1629)tCg>tTg	p.S543L	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.S257L|DOCK5_uc003xei.3_Missense_Mutation_p.S113L|DOCK5_uc003xej.3_5'Flank	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	543	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGAGATAAATCGGAGCGAGCA	0.532													5	12					0	0	1	0	0	T	25181376	C	T	25181376	3	4	160	1	0	0	0	0	1	0	0	0	4690	893	31	2	1694	2	DOCK5	8	25181376	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08		25181376	121182646	14	7176											
UBR5	51366	broad.mit.edu	37	chr8	103297901	103297901	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagatgttaggtaactgCtggcgttgctagcttccaaa	9	13	11	8	1	0	1	0	0	0	1	1	1	1	1	1	2	5	7	1	2	4	6			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr8:103297901C>T	uc003ykr.2	-	38	5779	c.5324G>A	c.(5323-5325)aGc>aAc	p.S1775N	UBR5_uc003yks.2_Missense_Mutation_p.S1775N	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	1775					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TAGGTAACTGCTGGCGTTGCT	0.463													19	77					0	0	1	0	0	T	103297901	C	T	103297901	3	4	160	1	0	0	0	0	1	0	0	0	16902	797	28	3	3159	3	UBR5	8	103297901	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08	78116525	103297901	43066121	15	7177											
SLC30A8	169026	broad.mit.edu	37	chr8	118170064	118170064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatcatcgtttccagctgcGcagtggcggccaacattgtg	7	11	12	11	3	1	1	1	1	0	0	3	1	2	1	2	2	3	3	2	2	1	2			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr8:118170064G>A	uc003yoh.3	+	3	783	c.553G>A	c.(553-555)Gca>Aca	p.A185T	SLC30A8_uc010mcz.3_Missense_Mutation_p.A136T|SLC30A8_uc003yog.3_Missense_Mutation_p.A136T|SLC30A8_uc011lia.2_Missense_Mutation_p.A136T|SLC30A8_uc022bab.1_Missense_Mutation_p.A136T	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	185					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TTCCAGCTGCGCAGTGGCGGC	0.527													17	89					0	0	1	0	0	A	118170064	G	A	118170064	3	1	160	1	0	0	0	0	1	0	0	0	14561	1087	38	1	567	1	SLC30A8	8	118170064	Missense_Mutation	SNP	G	TCGA-HT-7467-01A-11D-2024-08	14872163	118170064	28193958	16	7178											
ENPP2	5168	broad.mit.edu	37	chr8	120628508	120628508	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataaatgcaaaacttaccggTtgacctccccaccatctatg	13	10	5	13	1	1	1	0	1	1	0	2	1	2	1	5	1	3	2	5	1	6	4			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr8:120628508T>A	uc003yos.2	-	7	860	c.774A>T	c.(772-774)caA>caT	p.Q258H	ENPP2_uc010mdd.2_Missense_Mutation_p.Q258H|ENPP2_uc003yot.2_Missense_Mutation_p.Q258H	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	258					G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AACTTACCGGTTGACCTCCCC	0.378													10	62					0	0	1	0	0	A	120628508	T	A	120628508	3	1	160	1	0	0	0	0	1	0	0	0	5130	1722	60	5	2128	5	ENPP2	8	120628508	Missense_Mutation	SNP	T	TCGA-HT-7467-01A-11D-2024-08	2458444	120628508	25735514	17	7179											
FAM154A	158297	broad.mit.edu	37	chr9	18928829	18928829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcacaaagcgcttctccaCggggtgggccacatagctca	10	7	11	13	2	2	0	1	0	1	0	3	0	2	0	2	3	3	3	2	3	2	2	rs117915008	by1000genomes	TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr9:18928829C>T	uc003zni.2	-	3	996	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	FAM154A_uc010mip.2_Missense_Mutation_p.V24M	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	Homo sapiens family with sequence similarity 154, member A (FAM154A), mRNA.	216								p.P215A(1)|p.P215P(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CGCTTCTCCACGGGGTGGGCC	0.507													15	73					0	0	1	0	0	T	18928829	C	T	18928829	3	4	160	1	0	0	0	0	1	0	0	0	5463	536	19	1	782	1	FAM154A	9	18928829	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08		18928829	122284602	18	7180											
ARMC3	219681	broad.mit.edu	37	chr10	23248333	23248333	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttttgatacacagaagaaGtagttatccatgagtttgct	13	15	8	5	0	0	4	0	2	0	2	1	4	1	4	1	0	2	4	1	0	5	6			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr10:23248333G>C	uc001irm.4	+	5	450	c.367G>C	c.(367-369)Gta>Cta	p.V123L	ARMC3_uc010qcv.2_Missense_Mutation_p.V123L|ARMC3_uc010qcw.2_Intron|ARMC3_uc001irn.1_Missense_Mutation_p.V35L	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	123							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CACAGAAGAAGTAGTTATCCA	0.363													4	43					0	0	1	0	0	C	23248333	G	C	23248333	3	2	160	1	0	0	0	0	1	0	0	0	952	1029	36	5	385	5	ARMC3	10	23248333	Missense_Mutation	SNP	G	TCGA-HT-7467-01A-11D-2024-08		23248333	112286414	19	7181											
ANKRD30A	91074	broad.mit.edu	37	chr10	37442521	37442521	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctctgtgagactgtttcaCagaaggatgtgtgtttaccc	8	14	11	8	0	2	2	1	1	1	2	3	4	2	3	1	1	1	2	1	1	2	3			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr10:37442521C>A	uc021ppc.1	+	12	1660	c.1561C>A	c.(1561-1563)Cag>Aag	p.Q521K	ANKRD30A_uc001iza.1_Missense_Mutation_p.Q521K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	577						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GACTGTTTCACAGAAGGATGT	0.274													15	95					1.33834e-09	1.33834e-09	1	1	0	A	37442521	C	A	37442521	3	1	160	1	0	0	0	0	1	0	0	0	658	479	17	5	1611	5	ANKRD30A	10	37442521	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08	14194188	37442521	98092226	20	7182											
OR5A1	219982	broad.mit.edu	37	chr11	59211138	59211138	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgatccaggccagctccaTatttaggcttcacttttgcg	7	13	8	13	1	1	1	1	1	0	0	3	1	3	1	4	2	2	2	4	2	2	6			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr11:59211138T>C	uc001nnx.1	+	0	497	c.497T>C	c.(496-498)aTa>aCa	p.I166T		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GCCAGCTCCATATTTAGGCTT	0.542													44	294					0	0	1	0	0	C	59211138	T	C	59211138	3	2	160	1	0	0	0	0	1	0	0	0	11139	1406	49	3	499	3	OR5A1	11	59211138	Missense_Mutation	SNP	T	TCGA-HT-7467-01A-11D-2024-08		59211138	75795378	21	7183											
CHRM1	1128	broad.mit.edu	37	chr11	62677198	62677198	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaggggactatcagcattGgcgggagggagtgcggtgca	9	6	20	6	2	1	1	1	0	0	1	1	5	1	4	0	6	3	2	0	6	1	2			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr11:62677198G>A	uc021qko.1	-	0	1375	c.1375C>T	c.(1375-1377)Caa>Taa	p.Q459*	CHRM1_uc001nwi.3_Nonsense_Mutation_p.Q459*	NM_000738	NP_000729	P11229	ACM1_HUMAN	Homo sapiens cholinergic receptor, muscarinic 1 (CHRM1), mRNA.	459					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	TATCAGCATTGGCGGGAGGGA	0.682													19	95					0	0	1	0	0	A	62677198	G	A	62677198	4	1	160	1	0	0	0	0	0	1	0	0	3376	1357	47	3	11	3	CHRM1	11	62677198	Nonsense_Mutation	SNP	G	TCGA-HT-7467-01A-11D-2024-08	3466060	62677198	72329318	22	7184											
AKAP3	10566	broad.mit.edu	37	chr12	4737521	4737521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcctggaacatgcagagaCggtctcattcacaagctctg	11	10	9	11	1	3	1	2	0	2	1	5	3	4	2	1	2	3	2	1	2	2	2	rs140759485		TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr12:4737521C>T	uc001qnb.4	-	3	791	c.547G>A	c.(547-549)Gtc>Atc	p.V183I		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	183					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CATGCAGAGACGGTCTCATTC	0.478													25	118					0	0	1	0	0	T	4737521	C	T	4737521	3	4	160	1	0	0	0	0	1	0	0	0	452	536	19	1	2022	1	AKAP3	12	4737521	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08		4737521	129114374	23	7185											
ANAPC5	51433	broad.mit.edu	37	chr12	121769171	121769171	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacagtgctggagacacacGtgatcgttggactcctgggc	10	8	13	10	2	0	2	0	1	0	1	2	4	1	3	1	3	2	2	1	3	1	1			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr12:121769171G>A	uc001uag.3	-	7	1133	c.1011C>T	c.(1009-1011)caC>caT	p.H337H	ANAPC5_uc010szu.2_5'Flank|ANAPC5_uc001uae.3_5'UTR|ANAPC5_uc010szv.2_Intron|ANAPC5_uc001uaf.3_Non-coding_Transcript|ANAPC5_uc001uah.3_Silent_p.H238H	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	Homo sapiens anaphase promoting complex subunit 5 (ANAPC5), transcript variant 1, mRNA.	337					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGAGACACACGTGATCGTTGG	0.488													9	27					0	0	1	0	0	A	121769171	G	A	121769171	2	1	160	1	0	0	0	0	0	0	0	1	605	1136	40	1		1	ANAPC5	12	121769171	Silent	SNP	G	TCGA-HT-7467-01A-11D-2024-08	117031650	121769171	12082724	24	7186											
COL4A1	1282	broad.mit.edu	37	chr13	110813712	110813712	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcgcaggcagctgccggcCgtgcctagacaaggaagaag	10	5	15	11	3	0	2	0	0	0	2	0	3	0	3	3	3	4	3	3	3	4	2			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr13:110813712C>T	uc001vqw.4	-	48	4589	c.4467G>A	c.(4465-4467)acG>acA	p.T1489T		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1489	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AGCTGCCGGCCGTGCCTAGAC	0.438													3	17					0	0	1	0	0	T	110813712	C	T	110813712	2	4	160	1	0	0	0	0	0	0	0	1	3689	639	23	2		2	COL4A1	13	110813712	Silent	SNP	C	TCGA-HT-7467-01A-11D-2024-08		110813712	4356166	25	7187											
REM2	161253	broad.mit.edu	37	chr14	23354154	23354154	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctagtgggggagagcggcgtGggcaagagcaccctagcagg	9	4	19	9	2	0	2	0	0	0	2	0	3	0	2	1	5	3	3	1	5	3	2			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr14:23354154G>A	uc001whf.1	+	1	440	c.375G>A	c.(373-375)gtG>gtA	p.V125V	REM2_uc010tnd.1_Silent_p.V117V	NM_173527	NP_775798	Q8IYK8	REM2_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP binding 2 (REM2), mRNA.	125					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		AGAGCGGCGTGGGCAAGAGCA	0.607													15	49					0	0	1	0	0	A	23354154	G	A	23354154	2	1	160	1	0	0	0	0	0	0	0	1	13223	1335	47	3		3	REM2	14	23354154	Silent	SNP	G	TCGA-HT-7467-01A-11D-2024-08		23354154	83995386	26	7188											
AP1G2	8906	broad.mit.edu	37	chr14	24035874	24035874	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtgaatctggaggaggCgatcagtttcaggcactcca	9	10	13	9	1	4	1	2	1	2	0	5	4	5	3	1	4	0	2	1	4	1	1			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr14:24035874C>T	uc001wkl.2	-	2	563	c.226G>A	c.(226-228)Gcc>Acc	p.A76T	AP1G2_uc001wkk.3_Intron|AP1G2_uc001wkn.2_Intron|AX747770_uc001wko.1_Non-coding_Transcript|AP1G2_uc001wkp.1_5'Flank|AP1G2_uc010tnp.1_Missense_Mutation_p.A76T|AP1G2_uc010aks.3_Intron|AP1G2_uc010akt.3_Intron|AP1G2_uc010tnq.1_Intron	NM_003917	NP_003908	O75843	AP1G2_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 2 subunit (AP1G2), mRNA.	76					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CTGGAGGAGGCGATCAGTTTC	0.527													18	114					0	0	1	0	0	T	24035874	C	T	24035874	3	4	160	1	0	0	0	0	1	0	0	0	733	768	27	1	2211	1	AP1G2	14	24035874	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08	681720	24035874	83313666	27	7189											
SLC43A2	124935	broad.mit.edu	37	chr17	1516558	1516558	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcgatgaagatgagcacGgagagagctgcagggacatg	13	4	18	6	2	0	4	0	2	0	2	0	8	0	6	0	3	3	3	0	3	1	0			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr17:1516558G>A	uc002fsu.3	-	4	739	c.432C>T	c.(430-432)tcC>tcT	p.S144S	SLC43A2_uc002fsv.3_Silent_p.S144S|SLC43A2_uc002fsw.3_Silent_p.S144S|SLC43A2_uc002fsx.3_Silent_p.S144S	NM_152346	NP_689559	Q8N370	LAT4_HUMAN	Homo sapiens solute carrier family 43, member 2 (SLC43A2), mRNA.	144					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		AGATGAGCACGGAGAGAGCTG	0.552													4	25					0	0	1	0	0	A	1516558	G	A	1516558	2	1	160	1	0	0	0	0	0	0	0	1	14633	1103	39	2		2	SLC43A2	17	1516558	Silent	SNP	G	TCGA-HT-7467-01A-11D-2024-08		1516558	79678652	28	7190											
LAMA3	3909	broad.mit.edu	37	chr18	21364088	21364088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctcgatgtgatacctgcCgctctggtttctactcattc	5	14	8	14	2	3	1	1	1	2	0	5	2	3	1	3	1	3	2	3	1	2	4			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr18:21364088C>T	uc002kuq.3	+	11	1656	c.1570C>T	c.(1570-1572)Cgc>Tgc	p.R524C	LAMA3_uc010dlv.2_Missense_Mutation_p.R524C|LAMA3_uc002kur.3_Missense_Mutation_p.R524C	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	524	Domain V.|Laminin EGF-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGATACCTGCCGCTCTGGTTT	0.498													26	153					0	0	1	0	0	T	21364088	C	T	21364088	3	4	160	1	0	0	0	0	1	0	0	0	8607	652	23	2	1616	2	LAMA3	18	21364088	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08		21364088	56713160	29	7191											
OR2Z1	284383	broad.mit.edu	37	chr19	8841797	8841797	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagtatcctgtacttaTgagacgccaggtatgtctgc	8	12	10	11	1	1	1	0	1	1	1	2	2	2	1	3	1	3	4	3	1	4	4			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr19:8841797T>C	uc010xkg.2	+	0	407	c.407T>C	c.(406-408)aTg>aCg	p.M136T		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCTGTACTTATGAGACGCCAG	0.547													24	98					0	0	1	0	0	C	8841797	T	C	8841797	3	2	160	1	0	0	0	0	1	0	0	0	11036	1464	51	3	409	3	OR2Z1	19	8841797	Missense_Mutation	SNP	T	TCGA-HT-7467-01A-11D-2024-08		8841797	50287186	30	7192											
RYR1	6261	broad.mit.edu	37	chr19	39055678	39055678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagatggagctcttcgtgaGtttctgcgaggacaccatct	9	11	12	9	2	3	2	0	1	3	1	4	6	3	4	1	2	2	2	1	2	1	2			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr19:39055678G>A	uc002oit.3	+	90	12834	c.12704G>A	c.(12703-12705)aGt>aAt	p.S4235N	RYR1_uc002oiu.3_Missense_Mutation_p.S4230N|RYR1_uc002oiv.1_Missense_Mutation_p.S1144N	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4235					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTCTTCGTGAGTTTCTGCGAG	0.657													4	1					0	0	1	0	0	A	39055678	G	A	39055678	3	1	160	1	0	0	0	0	1	0	0	0	13768	1029	36	3	13066	3	RYR1	19	39055678	Missense_Mutation	SNP	G	TCGA-HT-7467-01A-11D-2024-08	30213881	39055678	20073305	31	7193											
PTPRH	5794	broad.mit.edu	37	chr19	55693461	55693461	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaaggagaccctcggactGcagctgccggagcaggacgt	9	4	14	14	3	0	1	0	0	0	1	1	5	0	4	3	4	4	3	3	4	1	0			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr19:55693461G>A	uc002qjq.3	-	18	3194	c.3121C>T	c.(3121-3123)Cag>Tag	p.Q1041*	PTPRH_uc010esv.3_Nonsense_Mutation_p.Q863*|SYT5_uc002qjm.1_5'Flank|SYT5_uc002qjp.2_5'Flank|SYT5_uc002qjn.1_5'Flank|SYT5_uc002qjo.1_5'Flank	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	1041	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.Q1041E(2)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CCCTCGGACTGCAGCTGCCGG	0.607													7	94					0	0	1	0	0	A	55693461	G	A	55693461	4	1	160	1	0	0	0	0	0	1	0	0	12803	1328	46	3	234	3	PTPRH	19	55693461	Nonsense_Mutation	SNP	G	TCGA-HT-7467-01A-11D-2024-08	16637783	55693461	3435522	32	7194											
PCSK2	5126	broad.mit.edu	37	chr20	17339014	17339014	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggatttgaccgaaaaaagCgaggttacagagacatcaat	18	7	10	6	2	1	2	1	1	0	1	1	6	1	3	1	2	2	1	1	2	6	2			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr20:17339014C>T	uc002wpm.3	+	2	679	c.325C>T	c.(325-327)Cga>Tga	p.R109*	PCSK2_uc002wpl.3_Nonsense_Mutation_p.R90*|PCSK2_uc010zrm.2_Nonsense_Mutation_p.R74*	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	109					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)	CCGAAAAAAGCGAGGTTACAG	0.398													7	54					0	0	1	0	0	T	17339014	C	T	17339014	4	4	160	1	0	0	0	0	0	1	0	0	11601	760	27	1	335	1	PCSK2	20	17339014	Nonsense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08		17339014	45686506	33	7195											
TMEM189-UBE2V1	387522	broad.mit.edu	37	chr20	48700714	48700714	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattaatttttgttacaaaTcttacaaaggggggtgcttc	12	16	8	5	0	1	0	0	0	1	0	2	0	1	0	0	3	3	2	0	3	6	7			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr20:48700714T>C	uc002xva.3	-	2	294	c.249A>G	c.(247-249)agA>agG	p.R83R	TMEM189-UBE2V1_uc002xvf.3_Silent_p.R306R|TMEM189-UBE2V1_uc002xvb.3_Non-coding_Transcript|TMEM189-UBE2V1_uc002xvc.3_Silent_p.R39R|TMEM189-UBE2V1_uc002xvd.3_Silent_p.R106R|TMEM189-UBE2V1_uc002xve.3_Silent_p.R106R	NM_001032288	NP_001027459	A5PLL7	TM189_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2 variant 1 (UBE2V1), transcript variant 4, mRNA.	0						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			TTGTTACAAATCTTACAAAGG	0.358													23	108					0	0	1	0	0	C	48700714	T	C	48700714	2	2	160	1	0	0	0	0	0	0	0	1	16109	1432	50	3		3	TMEM189-UBE2V1	20	48700714	Silent	SNP	T	TCGA-HT-7467-01A-11D-2024-08	31361700	48700714	14324806	34	7196											
CTSZ	1522	broad.mit.edu	37	chr20	57576621	57576621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccccttcacaggagccaGcgttaccgcagtcgatgacg	9	7	10	15	4	1	1	1	1	0	0	2	3	1	2	4	1	4	2	4	1	2	3			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr20:57576621G>A	uc002yai.2	-	2	512	c.386C>T	c.(385-387)gCt>gTt	p.A129V	CTSZ_uc002yaj.4_Missense_Mutation_p.A129V	NM_001336	NP_001327	Q9UBR2	CATZ_HUMAN	Homo sapiens cathepsin Z (CTSZ), mRNA.	129			A -> R (requires 2 nucleotide substitutions).		proteolysis	endoplasmic reticulum|extracellular space|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10	all_lung(29;0.00711)		Colorectal(105;0.109)			ACAGGAGCCAGCGTTACCGCA	0.602													11	57					0	0	1	0	0	A	57576621	G	A	57576621	3	1	160	1	0	0	0	0	1	0	0	0	4043	971	34	3	541	3	CTSZ	20	57576621	Missense_Mutation	SNP	G	TCGA-HT-7467-01A-11D-2024-08	8875907	57576621	5448899	35	7197											
ARID1A	8289	broad.mit.edu	37	chr1	27105550	27105550	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccttgtagaatatttcCgacgatgcctgattgagatc	10	13	9	9	2	0	3	0	2	0	2	3	6	2	3	3	0	2	2	3	0	3	5			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr1:27105550C>T	uc001bmv.1	+	19	5534	c.5161C>T	c.(5161-5163)Cga>Tga	p.R1721*	ARID1A_uc001bmu.1_Nonsense_Mutation_p.R1504*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.R567*|ARID1A_uc009vsm.1_Nonsense_Mutation_p.R49*|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1721					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.R1721*(6)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGAATATTTCCGACGATGCCT	0.443			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								22	158					0	0	0.014323	0	0	T	27105550	C	T	27105550	4	4	161	1	0	0	0	0	0	1	0	0	913	644	23	2	5239	2	ARID1A	1	27105550	Nonsense_Mutation	SNP	C	TCGA-HT-7468-01A-11D-2024-08		27105550	222145071	1	7198											
LPHN2	23266	broad.mit.edu	37	chr1	82408735	82408735	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaaaggcgggtgcttggtgCaaggaccctcttcaggctgc	8	8	14	11	1	2	0	1	0	1	0	2	1	2	1	1	5	3	3	1	5	3	2			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr1:82408735C>G	uc001dit.4	+	5	661	c.480C>G	c.(478-480)tgC>tgG	p.C160W	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.C160W|LPHN2_uc001div.3_Missense_Mutation_p.C160W|LPHN2_uc009wcd.3_Missense_Mutation_p.C160W	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	160	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GTGCTTGGTGCAAGGACCCTC	0.408													9	38					0	0	0.004482	0	0	G	82408735	C	G	82408735	3	3	161	1	0	0	0	0	1	0	0	0	8916	718	25	5	494	5	LPHN2	1	82408735	Missense_Mutation	SNP	C	TCGA-HT-7468-01A-11D-2024-08	55303185	82408735	166841886	2	7199											
GALNT5	11227	broad.mit.edu	37	chr2	158152216	158152216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attctcatgtggaatgtaacGttggttggttggaacctctt	8	16	11	6	1	2	0	1	0	2	0	3	2	2	2	1	4	2	4	1	4	3	6	rs138347479		TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr2:158152216G>A	uc002tzg.3	+	3	2038	c.1783G>A	c.(1783-1785)Gtt>Att	p.V595I	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	595	Catalytic subdomain A.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GGAATGTAACGTTGGTTGGTT	0.358													8	201					0	0	0.004482	0	0	A	158152216	G	A	158152216	3	1	161	1	0	0	0	0	1	0	0	0	6216	1145	40	1	1797	1	GALNT5	2	158152216	Missense_Mutation	SNP	G	TCGA-HT-7468-01A-11D-2024-08		158152216	85047157	3	7200											
TTN	7273	broad.mit.edu	37	chr2	179434377	179434377	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actataataggtccagggacGtcagcatgttctccaactcc	11	10	8	12	1	2	0	1	0	1	0	5	1	4	1	3	2	2	2	3	2	4	4			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr2:179434377G>A	uc021vsy.1	-	274	69003	c.68778C>T	c.(68776-68778)gaC>gaT	p.D22926D	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.D16621D|TTN_uc021vta.1_Silent_p.D16554D|TTN_uc021vtb.1_Silent_p.D16429D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23853	Fibronectin type-III 66.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCCAGGGACGTCAGCATGTT	0.373													5	17					0	0	0.014758	0	0	A	179434377	G	A	179434377	2	1	161	1	0	0	0	0	0	0	0	1	16732	1136	40	1		1	TTN	2	179434377	Silent	SNP	G	TCGA-HT-7468-01A-11D-2024-08	21282161	179434377	63764996	4	7201											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								27	48					0	0	0.009535	0	0	T	209113112	C	T	209113112	3	4	161	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7468-01A-11D-2024-08	29678735	209113112	34086261	5	7202											
SCN11A	11280	broad.mit.edu	37	chr3	38936278	38936278	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttgctgtggtaagttttGcttcctgcaccacttgtgac	5	18	9	9	0	0	1	0	1	0	0	1	1	1	1	2	1	3	5	2	1	1	7			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr3:38936278G>T	uc021wvy.1	-	14	2780	c.2581C>A	c.(2581-2583)Caa>Aaa	p.Q861K	SCN11A_uc010hhn.1_5'UTR	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	861					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GGTAAGTTTTGCTTCCTGCAC	0.488													42	62					2.24722e-20	2.67938e-20	0.01441	1	0	T	38936278	G	T	38936278	3	4	161	1	0	0	0	0	1	0	0	0	13913	1328	46	5	2842	5	SCN11A	3	38936278	Missense_Mutation	SNP	G	TCGA-HT-7468-01A-11D-2024-08		38936278	159086152	6	7203											
PIK3CA	5290	broad.mit.edu	37	chr3	178952072	178952072	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggagtatttcatgaaacaaAtgaatgatgcacatcatggt	15	12	9	5	0	2	3	2	3	0	0	2	4	2	4	0	2	2	2	0	2	4	2			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr3:178952072A>G	uc003fjk.3	+	20	3284	c.3127A>G	c.(3127-3129)Atg>Gtg	p.M1043V		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	1043	PI3K/PI4K.		M -> I (in cancer; shows an increase in lipid kinase activity).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1043I(62)|p.M1043V(43)|p.M1043T(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CATGAAACAAATGAATGATGC	0.368		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			40	44					0	0	0.027894	0	0	G	178952072	A	G	178952072	3	3	161	1	0	0	0	0	1	0	0	0	11913	101	4	3	3205	3	PIK3CA	3	178952072	Missense_Mutation	SNP	A	TCGA-HT-7468-01A-11D-2024-08	140015794	178952072	19070358	7	7204											
CRIPAK	285464	broad.mit.edu	37	chr4	1388948	1388948	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcacacgtgcccatgtggAgtgttcgcctgctcacacgt	6	10	11	14	3	2	0	2	0	0	0	3	1	2	1	2	1	2	3	2	1	0	1	rs71299249	byFrequency	TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr4:1388948A>C	uc003gdf.2	+	0	3609	c.649A>C	c.(649-651)Agt>Cgt	p.S217R		NM_175918	NP_787114	Q8N1N5	CRPAK_HUMAN	Homo sapiens cysteine-rich PAK1 inhibitor (CRIPAK), mRNA.	217					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCCATGTGGAGTGTTCGCCT	0.662													4	22					0	0	0.009096	0	0	C	1388948	A	C	1388948	3	2	161	1	0	0	0	0	1	0	0	0	3877	304	11	5	651	5	CRIPAK	4	1388948	Missense_Mutation	SNP	A	TCGA-HT-7468-01A-11D-2024-08		1388948	189765328	8	7205											
NIPBL	25836	broad.mit.edu	37	chr5	37048690	37048693	+	Frame_Shift_Del	DEL	TCAG	TCAG	-																															ttttatctgataagaactccTcagtcaatttaaaaatacaa																										TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr5:37048690_37048693delTCAG	uc003jkl.4	+	38	7175_7178	c.6676_6679delTCAG	c.(6676-6681)tcagtcfs	p.S2226fs	NIPBL_uc003jkk.4_Frame_Shift_Del_p.S2226fs|NIPBL_uc003jkn.3_5'Flank	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	2226					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	p.S2225S(1)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TAAGAACTCCTCAGTCAATTTAAA	0.353													25	37	---	---	---	---						-	37048693	TCAG	-	37048690	7	5	161	1	0	1	0	1	0	0	0	0	10428	1551	54	0	6826	0	NIPBL	5	37048690	Frame_Shift_Del	DEL	TCAG	TCGA-HT-7468-01A-11D-2024-08		37048690	143866570	9	7206											
TNXB	7148	broad.mit.edu	37	chr6	32053695	32053695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccctcgggcacccgcatgcGcagttggaagtaggcaaagg	9	5	14	13	3	0	0	0	0	0	0	1	1	0	1	3	4	1	6	3	4	3	2			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr6:32053695G>A	uc003nzl.2	-	6	3182	c.2980C>T	c.(2980-2982)Cgc>Tgc	p.R994C		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1081	Fibronectin type-III 2.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACCCGCATGCGCAGTTGGAAG	0.672													33	42					0	0	0.027894	0	0	A	32053695	G	A	32053695	3	1	161	1	0	0	0	0	1	0	0	0	16343	1087	38	1	11885	1	TNXB	6	32053695	Missense_Mutation	SNP	G	TCGA-HT-7468-01A-11D-2024-08		32053695	139061372	10	7207											
TDRD6	221400	broad.mit.edu	37	chr6	46660414	46660415	+	Frame_Shift_Ins	INS	-	-	A																															tcttaactggtataatccagINSaaaaaaaaatgataagagct																								rs145334816		TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr6:46660414_46660415insA	uc003oyj.3	+	0	4803_4804	c.4549_4550insA	c.(4549-4551)gaafs	p.E1517fs	TDRD6_uc010jze.3_Frame_Shift_Ins_p.E1517fs	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	1517					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTATAATCCAGAAAAAAAAATG	0.351													7	93	---	---	---	---						A	46660415	-	A	46660414	7	5	161	1	0	1	1	0	0	0	0	0	15731	943	33	0	4551	0	TDRD6	6	46660414	Frame_Shift_Ins	INS	-	TCGA-HT-7468-01A-11D-2024-08	14606719	46660414	124454653	11	7208											
C7orf63	79846	broad.mit.edu	37	chr7	89929253	89929253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgataatcccaaaactgcaGctcatgtcaatgcttggcaa	13	10	8	10	0	2	1	2	1	0	0	3	1	3	1	1	1	4	4	1	1	5	2			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr7:89929253G>A	uc010lep.3	+	16	2181	c.1930G>A	c.(1930-1932)Gct>Act	p.A644T	C7orf63_uc003ukf.2_Non-coding_Transcript|C7orf63_uc003ukg.2_Missense_Mutation_p.A319T|C7orf63_uc011khj.2_Missense_Mutation_p.A626T|C7orf63_uc011khk.2_Missense_Mutation_p.A206T	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	Homo sapiens chromosome 7 open reading frame 63 (C7orf63), transcript variant 1, mRNA.	644							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						CAAAACTGCAGCTCATGTCAA	0.348													20	20					0	0	0.007413	0	0	A	89929253	G	A	89929253	3	1	161	1	0	0	0	0	1	0	0	0	2409	971	34	3	1996	3	C7orf63	7	89929253	Missense_Mutation	SNP	G	TCGA-HT-7468-01A-11D-2024-08		89929253	69209410	12	7209											
SLC13A1	6561	broad.mit.edu	37	chr7	122768985	122768985	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataatgaagaggaccaaggtCacaatttcttgatacctgtg	14	11	9	7	0	2	3	1	2	1	1	2	4	2	4	2	2	1	0	2	2	5	4			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr7:122768985C>T	uc003vkm.3	-	9	1072	c.1047G>A	c.(1045-1047)gtG>gtA	p.V349V	SLC13A1_uc010lks.3_Silent_p.V225V	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	349						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GGACCAAGGTCACAATTTCTT	0.418													13	20					0	0	0.013537	0	0	T	122768985	C	T	122768985	2	4	161	1	0	0	0	0	0	0	0	1	14391	813	29	3		3	SLC13A1	7	122768985	Silent	SNP	C	TCGA-HT-7468-01A-11D-2024-08	32839732	122768985	36369678	13	7210											
BRSK2	9024	broad.mit.edu	37	chr11	1477639	1477639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggccgagtacaaggccaCgggggggccagccgtgttcc	6	4	17	14	4	0	0	0	0	0	0	1	1	1	0	6	5	2	2	6	5	2	2			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr11:1477639C>T	uc001ltm.3	+	16	2121	c.1868C>T	c.(1867-1869)aCg>aTg	p.T623M	BRSK2_uc009ycv.1_Missense_Mutation_p.T599M|BRSK2_uc001lth.1_Missense_Mutation_p.T577M|BRSK2_uc001lti.3_Missense_Mutation_p.T577M|BRSK2_uc001ltl.3_Missense_Mutation_p.T577M|BRSK2_uc001ltj.3_Missense_Mutation_p.T577M|BRSK2_uc001ltk.3_Non-coding_Transcript|BRSK2_uc001ltn.3_Non-coding_Transcript|BRSK2_uc010qwx.2_Non-coding_Transcript|BRSK2_uc009ycw.3_Missense_Mutation_p.T73M	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN	Homo sapiens BR serine/threonine kinase 2 (BRSK2), mRNA.	577					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TACAAGGCCACGGGGGGGCCA	0.622													4	13					0	0	0.009096	0	0	T	1477639	C	T	1477639	3	4	161	1	0	0	0	0	1	0	0	0	1524	536	19	1	1796	1	BRSK2	11	1477639	Missense_Mutation	SNP	C	TCGA-HT-7468-01A-11D-2024-08		1477639	133528877	14	7211											
OR5M8	219484	broad.mit.edu	37	chr11	56258086	56258086	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctgagatacatgaagaaaAgggttgcatagaatatagtg	16	10	12	3	0	1	4	0	2	1	3	1	5	1	4	0	1	2	2	0	1	8	5			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr11:56258086A>G	uc001nix.1	-	0	761	c.761T>C	c.(760-762)cTt>cCt	p.L254P	OR8U8_uc001nit.2_Intron	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA.	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CATGAAGAAAAGGGTTGCATA	0.418													3	50					0	0	0.004672	0	0	G	56258086	A	G	56258086	3	3	161	1	0	0	0	0	1	0	0	0	11176	72	3	4	178	4	OR5M8	11	56258086	Missense_Mutation	SNP	A	TCGA-HT-7468-01A-11D-2024-08	54780447	56258086	78748430	15	7212											
RPGRIP1	57096	broad.mit.edu	37	chr14	21792899	21792899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcagggtgagaatctttttGaactgcacatccaccaggcc	11	10	9	11	0	2	2	1	2	1	1	3	3	3	2	3	2	2	1	3	2	2	2			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr14:21792899G>A	uc001wag.3	+	13	1885	c.1885G>A	c.(1885-1887)Gaa>Aaa	p.E629K	RPGRIP1_uc001wah.3_Missense_Mutation_p.E271K|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001waj.1_Missense_Mutation_p.E94K|RPGRIP1_uc001wak.3_Missense_Mutation_p.E104K|RPGRIP1_uc010aim.3_Missense_Mutation_p.E12K|RPGRIP1_uc001wal.3_Intron|RPGRIP1_uc001wam.3_5'UTR	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	629					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GAATCTTTTTGAACTGCACAT	0.498													5	94					0	0	0.014758	0	0	A	21792899	G	A	21792899	3	1	161	1	0	0	0	0	1	0	0	0	13549	1291	45	3	1939	3	RPGRIP1	14	21792899	Missense_Mutation	SNP	G	TCGA-HT-7468-01A-11D-2024-08		21792899	85556641	16	7213											
C17orf53	78995	broad.mit.edu	37	chr17	42225428	42225428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctccctgcctccagcaCgcccagtgctgacagccgtc	5	7	9	20	2	0	1	0	1	0	0	3	1	2	1	6	0	5	2	6	0	0	0			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr17:42225428C>T	uc002ifi.2	+	2	494	c.257C>T	c.(256-258)aCg>aTg	p.T86M	C17orf53_uc010czq.2_Missense_Mutation_p.T86M|C17orf53_uc002ifj.2_Missense_Mutation_p.T86M|C17orf53_uc002ifk.1_Non-coding_Transcript	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	Homo sapiens chromosome 17 open reading frame 53 (C17orf53), transcript variant 1, mRNA.	86										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GCCTCCAGCACGCCCAGTGCT	0.602													39	66					0	0	0.00874	0	0	T	42225428	C	T	42225428	3	4	161	1	0	0	0	0	1	0	0	0	1862	536	19	1	267	1	C17orf53	17	42225428	Missense_Mutation	SNP	C	TCGA-HT-7468-01A-11D-2024-08		42225428	38969782	17	7214											
JAK3	3718	broad.mit.edu	37	chr19	17945744	17945744	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgaagccccacttgtcagCttccaagctaagtgtctgcg	8	9	10	14	2	2	0	1	0	1	0	3	1	3	0	4	0	4	2	4	0	3	3			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr19:17945744C>A	uc002nhn.4	-	15	2216	c.2116G>T	c.(2116-2118)Gct>Tct	p.A706S	JAK3_uc010ebh.3_Intron|JAK3_uc002nho.2_Missense_Mutation_p.A706S	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	706	Protein kinase 1.				B cell differentiation|T cell homeostasis|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of FasL biosynthetic process|negative regulation of T-helper 1 cell differentiation|negative regulation of dendritic cell cytokine production|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						CACTTGTCAGCTTCCAAGCTA	0.617		2	Mis		"acute megakaryocytic leukemia, ETP ALL"								27	37					1.77063e-15	2.03295e-15	0.027356	1	0	A	17945744	C	A	17945744	3	1	161	1	0	0	0	0	1	0	0	0	7939	797	28	5	1294	5	JAK3	19	17945744	Missense_Mutation	SNP	C	TCGA-HT-7468-01A-11D-2024-08		17945744	41183239	18	7215											
CIC	23152	broad.mit.edu	37	chr19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcttcagcaagcggcacCgggccctggtccaccagcgt	7	7	12	15	3	2	1	1	1	1	0	3	1	3	1	4	3	3	2	4	3	1	1			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr19:42791757C>T	uc002otf.1	+	4	683	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215W(8)|p.R215Q(2)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612			"Mis, F, S"		oligodendroglioma								34	13					0	0	0.017118	0	0	T	42791757	C	T	42791757	3	4	161	1	0	0	0	0	1	0	0	0	3424	643	23	2	661	2	CIC	19	42791757	Missense_Mutation	SNP	C	TCGA-HT-7468-01A-11D-2024-08	24846013	42791757	16337226	19	7216											
CECR2	27443	broad.mit.edu	37	chr22	18028150	18028150	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctatccgagaacggagtcaTtggggaagcatctccttgtg	9	11	12	9	2	3	1	1	0	2	1	5	4	4	3	2	3	2	1	2	3	3	3			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr22:18028150T>C	uc010gqw.1	+	15	3101	c.3101T>C	c.(3100-3102)aTt>aCt	p.I1034T	CECR2_uc010gqv.1_Missense_Mutation_p.I894T|CECR2_uc002zml.2_Missense_Mutation_p.I895T|CECR2_uc002zmo.2_Non-coding_Transcript	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	1078					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AACGGAGTCATTGGGGAAGCA	0.622													3	32					0	0	0.004672	0	0	C	18028150	T	C	18028150	3	2	161	1	0	0	0	0	1	0	0	0	3206	1493	52	3	3171	3	CECR2	22	18028150	Missense_Mutation	SNP	T	TCGA-HT-7468-01A-11D-2024-08		18028150	33276416	20	7217											
CCDC30	728621	broad.mit.edu	37	chr1	43032078	43032078	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actcagctgaaaatgagcttCgatatgaacgagggcagaac	15	7	11	8	2	1	4	1	3	0	1	2	6	1	4	0	1	4	3	0	1	5	2			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr1:43032078C>T	uc009vwk.1	+	5	897	c.787C>T	c.(787-789)Cga>Tga	p.R263*	CCDC30_uc001chm.2_5'UTR|CCDC30_uc001chn.2_Nonsense_Mutation_p.R52*|CCDC30_uc010oju.1_Non-coding_Transcript|CCDC30_uc001chp.3_Nonsense_Mutation_p.R77*	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	Homo sapiens coiled-coil domain containing 30 (CCDC30), mRNA.	263								p.R263*(2)|p.R263Q(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AAATGAGCTTCGATATGAACG	0.408													33	56					0	0	1	0	0	T	43032078	C	T	43032078	4	4	162	1	0	0	0	0	0	1	0	0	2805	876	31	2	805	2	CCDC30	1	43032078	Nonsense_Mutation	SNP	C	TCGA-HT-7469-01A-11D-2253-08		43032078	206218543	1	7218											
SYCP1	6847	broad.mit.edu	37	chr1	115401230	115401230	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggctgaaaagataaaaaaAtggaaagtaagtacagaagc	22	5	11	3	0	0	3	0	1	0	2	0	5	0	4	0	2	2	3	0	2	10	3			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr1:115401230A>G	uc001efr.3	+	5	563	c.354A>G	c.(352-354)aaA>aaG	p.K118K	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Silent_p.K118K|SYCP1_uc009wgw.3_Silent_p.K118K	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	118					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGATAAAAAAATGGAAAGTAA	0.328													15	59					0	0	1	0	0	G	115401230	A	G	115401230	2	3	162	1	0	0	0	0	0	0	0	1	15428	98	4	3		3	SYCP1	1	115401230	Silent	SNP	A	TCGA-HT-7469-01A-11D-2253-08	72369152	115401230	133849391	2	7219											
MEX3A	92312	broad.mit.edu	37	chr1	156046687	156046689	+	In_Frame_Del	DEL	GAG	GAG	-																															cagcgcgggccttggcggaaGaggaggaggaggaggaggca																										TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr1:156046687_156046689delGAG	uc001fnd.4	-	1	1239_1241	c.1239_1241delCTC	c.(1237-1242)tcctct>tct	p.413_414SS>S		NM_001093725	NP_001087194	A1L020	MEX3A_HUMAN	Homo sapiens mex-3 homolog A (C. elegans) (MEX3A), mRNA.	413	Poly-Ser.					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					CTTGGCggaagaggaggaggagg	0.744													2	4	---	---	---	---						-	156046689	GAG	-	156046687	7	5	162	1	0	1	0	1	0	0	0	0	9509	942	33	0	325	0	MEX3A	1	156046687	In_Frame_Del	DEL	GAG	TCGA-HT-7469-01A-11D-2253-08	40645457	156046687	93203934	3	7220											
H3F3B	3021	broad.mit.edu	37	chr1	226252155	226252155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagtgcgccctctactggaGgggtgaagaaacctcatcgt	10	8	13	10	2	2	3	1	1	1	2	3	4	2	4	2	3	3	0	2	3	3	1			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr1:226252155G>A	uc001hpw.3	+	1	231	c.103G>A	c.(103-105)Ggg>Agg	p.G35R	H3F3B_uc010pvl.2_Missense_Mutation_p.G35R|H3F3B_uc021pjv.1_Missense_Mutation_p.G35R	NM_005324	NP_005315	P84243	H33_HUMAN	Homo sapiens H3 histone, family 3B (H3.3B) (H3F3B), mRNA.	35					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding	p.G35R(11)		large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTCTACTGGAGGGGTGAAGAA	0.458											OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	21					0	0	1	0	0	A	226252155	G	A	226252155	3	1	162	1	0	0	0	0	1	0	0	0	6934	1000	35	3		3	H3F3B	1	226252155	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08	70205468	226252155	22998466	4	7221											
UCN	7349	broad.mit.edu	37	chr2	27530455	27530455	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgctggctctgcgtccgCgccagctccagcagggtccg	3	7	13	18	5	1	0	0	0	1	0	5	0	5	0	5	2	3	4	5	2	0	0			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr2:27530455C>T	uc021vfc.1	-	0	309	c.309G>A	c.(307-309)gcG>gcA	p.A103A	UCN_uc002rjp.1_Silent_p.A103A	NM_003353	NP_003344	P55089	UCN1_HUMAN	Homo sapiens urocortin (UCN), mRNA.	103						extracellular region	neuropeptide hormone activity			lung(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGCGTCCGCGCCAGCTCCA	0.662													11	39					0	0	1	0	0	T	27530455	C	T	27530455	2	4	162	1	0	0	0	0	0	0	0	1	16924	755	27	1		1	UCN	2	27530455	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08		27530455	215668918	5	7222											
IL1RL2	8808	broad.mit.edu	37	chr2	102818122	102818122	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacgcgtgtcaagccatacTgacacactcagggaagcagt	12	7	10	12	2	2	1	2	1	0	0	2	2	2	2	1	1	4	1	1	1	4	2			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr2:102818122T>G	uc002tbs.3	+	4	722	c.596T>G	c.(595-597)cTg>cGg	p.L199R	IL1RL2_uc002tbt.3_Missense_Mutation_p.L82R	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	199	Ig-like C2-type 2.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						CAAGCCATACTGACACACTCA	0.478													25	26					0	0	1	0	0	G	102818122	T	G	102818122	3	3	162	1	0	0	0	0	1	0	0	0	7664	1580	55	5	610	5	IL1RL2	2	102818122	Missense_Mutation	SNP	T	TCGA-HT-7469-01A-11D-2253-08	75287667	102818122	140381251	6	7223											
EDAR	10913	broad.mit.edu	37	chr2	109547447	109547447	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acggggagccagggcgtctgCgtgcagtcccccacatgggc	6	5	16	14	3	1	0	0	0	1	0	2	1	2	1	3	4	3	1	3	4	0	0			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr2:109547447C>T	uc010fjn.3	-	2	571	c.24G>A	c.(22-24)acG>acA	p.T8T	EDAR_uc010yws.2_Silent_p.T8T|EDAR_uc002teq.4_Silent_p.T8T	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	8					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						AGGGCGTCTGCGTGCAGTCCC	0.627													30	87					0	0	1	0	0	T	109547447	C	T	109547447	2	4	162	1	0	0	0	0	0	0	0	1	4905	755	27	1		1	EDAR	2	109547447	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08	6729325	109547447	133651926	7	7224											
TMEFF2	23671	broad.mit.edu	37	chr2	192922465	192922465	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaatatcacaggtggatGtctccttttgactagtttct	9	15	9	8	0	3	1	1	1	2	0	4	2	3	2	1	3	0	2	1	3	3	5			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr2:192922465G>T	uc002utc.3	-	4	870	c.476C>A	c.(475-477)aCa>aAa	p.T159K		NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	Homo sapiens transmembrane protein with EGF-like and two follistatin-like domains 2 (TMEFF2), mRNA.	159						extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			ACAGGTGGATGTCTCCTTTTG	0.388													32	91					7.53189e-24	7.78721e-24	1	1	0	T	192922465	G	T	192922465	3	4	162	1	0	0	0	0	1	0	0	0	16011	1377	48	5	672	5	TMEFF2	2	192922465	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08	83375018	192922465	50276908	8	7225											
HYAL1	3373	broad.mit.edu	37	chr3	50337931	50337931	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatcaccacatgctcttccGctcacaccacggtgcctgcc	8	8	6	19	2	3	0	2	0	1	0	4	0	4	0	5	1	3	2	5	1	1	1			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr3:50337931G>A	uc003czp.3	-	3	1423	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	HYAL3_uc021wyn.1_5'Flank|HYAL3_uc003cze.2_5'Flank|HYAL3_uc003czf.2_5'Flank|HYAL3_uc003czd.2_5'Flank|HYAL3_uc003czg.2_5'Flank|HYAL3_uc021wyo.1_5'Flank|HYAL3_uc003czi.3_5'Flank|HYAL3_uc003czk.4_5'Flank|HYAL3_uc003czj.3_5'Flank|HYAL1_uc003czm.3_Missense_Mutation_p.R249W|HYAL1_uc003czo.3_Missense_Mutation_p.R172W|HYAL1_uc003czq.3_Missense_Mutation_p.R401W|HYAL1_uc003czr.3_Missense_Mutation_p.R431W|HYAL1_uc003czn.3_Missense_Mutation_p.R92W|HYAL1_uc003czs.3_Missense_Mutation_p.R431W|HYAL1_uc003czt.3_3'UTR	NM_033159	NP_695015	Q12794	HYAL1_HUMAN	Homo sapiens hyaluronoglucosaminidase 1 (HYAL1), transcript variant 7, mRNA.	431						extracellular space|lysosome	hyalurononglucosaminidase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	ATGCTCTTCCGCTCACACCAC	0.552													3	106					0	0	1	0	0	A	50337931	G	A	50337931	3	1	162	1	0	0	0	0	1	0	0	0	7463	1086	38	1	20	1	HYAL1	3	50337931	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08		50337931	147684499	9	7226											
OR5H15	403274	broad.mit.edu	37	chr3	97887873	97887873	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcaattggcgtaaccacAgaatgttttctcttggcaac	11	13	8	9	1	1	1	0	0	1	1	2	1	1	1	1	2	3	4	1	2	4	6			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr3:97887873A>T	uc011bgu.2	+	0	330	c.330A>T	c.(328-330)acA>acT	p.T110T		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GCGTAACCACAGAATGTTTTC	0.398													4	87					0	0	1	0	0	T	97887873	A	T	97887873	2	4	162	1	0	0	0	0	0	0	0	1	11161	175	7	5		5	OR5H15	3	97887873	Silent	SNP	A	TCGA-HT-7469-01A-11D-2253-08	47549942	97887873	100134557	10	7227											
P2RY12	64805	broad.mit.edu	37	chr3	151055882	151055882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaattcgggcaaaatggaaaGgaacaaaacaaataaagaat	23	5	9	4	1	0	1	0	0	0	1	1	4	0	3	0	3	2	1	0	3	11	2			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr3:151055882G>A	uc003eyw.1	-	1	968	c.752C>T	c.(751-753)cCt>cTt	p.P251L	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|P2RY12_uc011boa.2_3'UTR|P2RY12_uc003eyx.1_Missense_Mutation_p.P251L|P2RY12_uc021xga.1_Missense_Mutation_p.P251L	NM_176876	NP_795345	Q9H244	P2Y12_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 12 (P2RY12), transcript variant 2, mRNA.	251					platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity	p.V250D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	AAAATGGAAAGGAACAAAACA	0.428													3	34					0	0	1	0	0	A	151055882	G	A	151055882	3	1	162	1	0	0	0	0	1	0	0	0	11349	1000	35	3	280	3	P2RY12	3	151055882	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08	53168009	151055882	46966548	11	7228											
TLR1	7096	broad.mit.edu	37	chr4	38799739	38799739	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttggatttgtttgaagtttCgccagaatacttaggaagta	11	16	10	4	1	0	2	0	1	0	1	1	4	0	4	1	2	1	3	1	2	6	7	rs146940675		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr4:38799739C>T	uc003gtl.3	-	3	988	c.714G>A	c.(712-714)gcG>gcA	p.A238A	TLR1_uc021xnn.1_Silent_p.A238A	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	238					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTTGAAGTTTCGCCAGAATAC	0.343													8	32					0	0	1	0	0	T	38799739	C	T	38799739	2	4	162	1	0	0	0	0	0	0	0	1	15946	871	31	2		2	TLR1	4	38799739	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08		38799739	152354537	12	7229											
SHISA3	152573	broad.mit.edu	37	chr4	42403175	42403178	+	Frame_Shift_Del	DEL	CAGA	CAGA	-																															gcttctcactccgcagctatCagacagagaccctgcccatg																										TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr4:42403175_42403178delCAGA	uc003gwp.3	+	1	642_645	c.424_427delCAGA	c.(424-429)cagacafs	p.Q142fs		NM_001080505	NP_001073974	A0PJX4	SHSA3_HUMAN	Homo sapiens shisa homolog 3 (Xenopus laevis) (SHISA3), mRNA.	142					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						CCGCAGCTATCAGACAGAGACCCT	0.608													10	519	---	---	---	---						-	42403178	CAGA	-	42403175	7	5	162	1	0	1	0	1	0	0	0	0	14281	827	29	0	430	0	SHISA3	4	42403175	Frame_Shift_Del	DEL	CAGA	TCGA-HT-7469-01A-11D-2253-08	3603436	42403175	148751101	13	7230											
PDGFRA	5156	broad.mit.edu	37	chr4	55131206	55131206	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccttcaatggacttaccCtggagaagtggtaggtaccc	10	10	11	10	0	1	2	1	1	0	1	1	4	1	3	3	4	2	2	3	4	5	4			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr4:55131206C>T	uc003han.4	+	4	1080	c.749C>T	c.(748-750)cCt>cTt	p.P250L	PDGFRA_uc003haa.3_Intron|PDGFRA_uc003hal.3_3'UTR|PDGFRA_uc010igq.1_Missense_Mutation_p.P144L|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	250	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TGGACTTACCCTGGAGAAGTG	0.488			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			33	80					0	0	1	0	0	T	55131206	C	T	55131206	3	4	162	1	0	0	0	0	1	0	0	0	11661	681	24	3	763	3	PDGFRA	4	55131206	Missense_Mutation	SNP	C	TCGA-HT-7469-01A-11D-2253-08	12728031	55131206	136023070	14	7231											
PDGFRA	5156	broad.mit.edu	37	chr4	55133717	55133720	+	Splice_Site	DEL	AGAG	AGAG	-																															atggaaactcttccctgtacAgagaaaggtttcattgaaat																										TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr4:55133717_55133720delAGAG	uc003han.4	+	7	1263	c.932_splice	c.e7-1	p.E311_splice	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Splice_Site_p.E205_splice|PDGFRA_uc003ham.2_Splice_Site	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	311					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TTCCCTGTACAGAGAAAGGTTTCA	0.441			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			22	92	---	---	---	---						-	55133720	AGAG	-	55133717	8	5	162	1	0	1	0	1	0	0	1	0	11661	202	7	0	952	0	PDGFRA	4	55133717	Splice_Site	DEL	AGAG	TCGA-HT-7469-01A-11D-2253-08	2511	55133717	136020559	15	7232											
FSTL5	56884	broad.mit.edu	37	chr4	162697149	162697149	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attaggattttcattttcttGcataatatatttttgatttt	10	24	4	3	0	2	1	1	1	1	0	2	2	2	2	0	1	1	1	0	1	4	13			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr4:162697149G>A	uc003iqh.3	-	4	923	c.487C>T	c.(487-489)Caa>Taa	p.Q163*	FSTL5_uc003iqi.3_Nonsense_Mutation_p.Q162*|FSTL5_uc010iqv.3_Nonsense_Mutation_p.Q162*	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	163						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCATTTTCTTGCATAATATAT	0.308													12	19					0	0	1	0	0	A	162697149	G	A	162697149	4	1	162	1	0	0	0	0	0	1	0	0	6080	1328	46	3	2104	3	FSTL5	4	162697149	Nonsense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08	107563432	162697149	28457127	16	7233											
MCTP1	79772	broad.mit.edu	37	chr5	94248540	94248540	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacttctgatgcccaagccGgaacttcacgtagggatcgc	9	9	11	12	3	2	1	1	1	1	0	3	3	2	3	2	2	4	2	2	2	4	4			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr5:94248540G>T	uc003kkx.2	-	8	1492	c.1492C>A	c.(1492-1494)Cgg>Agg	p.R498R	MCTP1_uc003kkv.2_Silent_p.R277R|MCTP1_uc003kkw.2_Silent_p.R231R|MCTP1_uc003kkz.2_Silent_p.R159R|MCTP1_uc003kku.2_Silent_p.R14R	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	498	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TGCCCAAGCCGGAACTTCACG	0.473													22	72					1.64293e-13	1.67032e-13	1	1	0	T	94248540	G	T	94248540	2	4	162	1	0	0	0	0	0	0	0	1	9400	1115	39	5		5	MCTP1	5	94248540	Silent	SNP	G	TCGA-HT-7469-01A-11D-2253-08		94248540	86666720	17	7234											
T	6862	broad.mit.edu	37	chr6	166579237	166579237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgctatgaactgggtctcaGggaagcagtggctggtgatc	8	9	15	9	1	1	2	1	2	1	0	3	3	1	3	1	4	2	3	1	4	3	1			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr6:166579237G>A	uc003qut.1	-	2	849	c.563C>T	c.(562-564)cCt>cTt	p.P188L	T_uc003quu.1_Missense_Mutation_p.P188L|T_uc003quv.1_Missense_Mutation_p.P188L	NM_003181	NP_003172	O15178	BRAC_HUMAN	Homo sapiens T, brachyury homolog (mouse) (T), mRNA.	188					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CTGGGTCTCAGGGAAGCAGTG	0.557									Chordoma, Familial Clustering of				66	296					0	0	1	0	0	A	166579237	G	A	166579237	3	1	162	1	0	0	0	0	1	0	0	0	15485	1000	35	3	768	3	T	6	166579237	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08		166579237	4535830	18	7235											
POR	5447	broad.mit.edu	37	chr7	75601767	75601767	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagagcagctttgtggaaaaGatgaagaaaacggtgagttt	15	9	14	3	1	0	5	0	2	0	3	0	7	0	6	0	2	3	3	0	2	5	2			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr7:75601767G>A	uc003udy.3	+	2	307	c.225G>A	c.(223-225)aaG>aaA	p.K75K	POR_uc011kgb.2_Non-coding_Transcript	NM_000941	NP_000932	P16435	NCPR_HUMAN	Homo sapiens P450 (cytochrome) oxidoreductase (POR), mRNA.	72					cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	NADPH-hemoprotein reductase activity|iron ion binding			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	TTGTGGAAAAGATGAAGAAAA	0.537											OREG0018131	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	7					0	0	1	0	0	A	75601767	G	A	75601767	2	1	162	1	0	0	0	0	0	0	0	1	12257	933	33	3		3	POR	7	75601767	Silent	SNP	G	TCGA-HT-7469-01A-11D-2253-08		75601767	83536896	19	7236											
SLC26A4	5172	broad.mit.edu	37	chr7	107312689	107312692	+	Frame_Shift_Del	DEL	AGTT	AGTT	-																															ggaacatcaagacatatctcAgttggtaattataagtatat																								rs111033199		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr7:107312689_107312692delAGTT	uc003vep.3	+	3	635_638	c.411_414delAGTT	c.(409-414)tcagttfs	p.S137fs		NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	137			S -> P (in PDS).		regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GACATATCTCAGTTGGTAATTATA	0.338									Pendred syndrome				14	57	---	---	---	---						-	107312692	AGTT	-	107312689	7	5	162	1	0	1	0	1	0	0	0	0	14519	175	7	0	421	0	SLC26A4	7	107312689	Frame_Shift_Del	DEL	AGTT	TCGA-HT-7469-01A-11D-2253-08	31710922	107312689	51825974	20	7237											
HR	55806	broad.mit.edu	37	chr8	21982885	21982885	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcaggcggcacagtcggtcCcccaaaccactgagcaggtg	10	4	13	14	2	0	1	0	1	0	0	2	1	1	1	3	4	3	3	3	4	1	0			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr8:21982885C>T	uc003xas.3	-	4	2354	c.1689G>A	c.(1687-1689)ggG>ggA	p.G563G	HR_uc003xat.3_Silent_p.G563G	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	563							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		ACAGTCGGTCCCCCAAACCAC	0.677													4	6					0	0	1	0	0	T	21982885	C	T	21982885	2	4	162	1	0	0	0	0	0	0	0	1	7347	610	22	3		3	HR	8	21982885	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08		21982885	124381137	21	7238											
SLC20A2	6575	broad.mit.edu	37	chr8	42287600	42287600	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggacggcgtgatgggaGtgaggtccttccccatggtc	6	9	15	11	2	0	2	0	2	0	0	3	4	2	4	4	5	0	0	4	5	0	1			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr8:42287600G>A	uc003xpe.3	-	8	2060	c.1691C>T	c.(1690-1692)aCt>aTt	p.T564I	SLC20A2_uc010lxl.3_Missense_Mutation_p.T564I|SLC20A2_uc010lxm.3_Missense_Mutation_p.T564I|SLC20A2_uc011lcu.2_Missense_Mutation_p.T366I	NM_006749	NP_006740	Q08357	S20A2_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 2 (SLC20A2), mRNA.	564					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CGTGATGGGAGTGAGGTCCTT	0.612													3	64					0	0	1	0	0	A	42287600	G	A	42287600	3	1	162	1	0	0	0	0	1	0	0	0	14439	1029	36	3	279	3	SLC20A2	8	42287600	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08	20304715	42287600	104076422	22	7239											
PPP1R16A	84988	broad.mit.edu	37	chr8	145727173	145727174	+	Frame_Shift_Ins	INS	-	-	C																															cctgcctggtgacacggtgaINSccccccagcctgactgtggc																										TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr8:145727173_145727174insC	uc003zdd.3	+	10	2387_2388	c.1474_1475insC	c.(1474-1476)accfs	p.T492fs	AK094577_uc003zde.1_5'Flank|PPP1R16A_uc003zdf.3_Frame_Shift_Ins_p.T492fs|GPT_uc011llj.1_5'Flank|GPT_uc003zdh.4_5'Flank	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16A (PPP1R16A), mRNA.	492						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGACACGGTGACCCCCCAGCCT	0.713													2	4	---	---	---	---						C	145727174	-	C	145727173	7	5	162	1	0	1	1	0	0	0	0	0	12365	275	10	0	1512	0	PPP1R16A	8	145727173	Frame_Shift_Ins	INS	-	TCGA-HT-7469-01A-11D-2253-08	103439573	145727173	636849	23	7240											
RLN1	6013	broad.mit.edu	37	chr9	5339680	5339680	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccttccatttggccgcgaCtgctctggaaaattggttca	7	13	10	11	2	2	0	1	0	1	0	4	2	4	1	3	3	1	2	3	3	2	4			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr9:5339680C>G	uc003zjb.1	-	0	194	c.67G>C	c.(67-69)Gtc>Ctc	p.V23L		NM_006911	NP_008842	P04808	REL1_HUMAN	Homo sapiens relaxin 1 (RLN1), mRNA.	23					female pregnancy|signal transduction	extracellular region	hormone activity			large_intestine(1)|lung(4)	5	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)		TTGGCCGCGACTGCTCTGGAA	0.517													6	106					0	0	1	0	0	G	5339680	C	G	5339680	3	3	162	1	0	0	0	0	1	0	0	0	13391	565	20	5	498	5	RLN1	9	5339680	Missense_Mutation	SNP	C	TCGA-HT-7469-01A-11D-2253-08		5339680	135873751	24	7241											
PRKCQ	5588	broad.mit.edu	37	chr10	6527130	6527130	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctacctctttttcccggtgtCggtaaacatggcggccttgc	5	13	10	13	3	1	0	0	0	1	0	3	0	2	0	3	4	3	1	3	4	3	5			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr10:6527130C>T	uc001iji.1	-	8	1185	c.1101G>A	c.(1099-1101)ccG>ccA	p.P367P	PRKCQ_uc001ijj.2_Silent_p.P334P|PRKCQ_uc009xim.2_Silent_p.P334P|PRKCQ_uc009xin.2_Silent_p.P298P|PRKCQ_uc010qax.2_Silent_p.P209P	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	334					T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TTCCCGGTGTCGGTAAACATG	0.443													6	193					0	0	1	0	0	T	6527130	C	T	6527130	2	4	162	1	0	0	0	0	0	0	0	1	12515	871	31	2		2	PRKCQ	10	6527130	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08		6527130	129007617	25	7242											
FRMD4A	55691	broad.mit.edu	37	chr10	13825006	13825006	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaaatgctttctatatagaaCctgaaagagaaaaatggtgc	17	10	9	5	0	1	3	0	1	1	2	1	5	1	3	1	1	3	1	1	1	8	4			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr10:13825006C>T	uc001ims.3	-	6	652	c.300_splice	c.e6-1	p.R100_splice	FRMD4A_uc009xjf.1_Splice_Site_p.R100_splice|FRMD4A_uc001imt.1_Splice_Site_p.R133_splice|FRMD4A_uc001imu.1_Splice_Site_p.R116_splice	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	100	FERM.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CTATATAGAACCTGAAAGAGA	0.428													37	55					0	0	1	0	0	T	13825006	C	T	13825006	5	4	162	1	0	0	0	0	0	0	1	0	6051	521	18	3	2895	3	FRMD4A	10	13825006	Splice_Site	SNP	C	TCGA-HT-7469-01A-11D-2253-08	7297876	13825006	121709741	26	7243											
AFAP1L2	84632	broad.mit.edu	37	chr10	116060060	116060060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagattctctgctgttccGtctggattttgacggtggtg	5	15	14	7	2	2	2	0	1	2	1	4	4	3	3	1	4	1	2	1	4	0	4	rs144011687	byFrequency	TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr10:116060060G>A	uc001lbn.3	-	14	2151	c.1850C>T	c.(1849-1851)aCg>aTg	p.T617M	AFAP1L2_uc001lbo.3_Missense_Mutation_p.T617M|AFAP1L2_uc010qse.2_Missense_Mutation_p.T670M|AFAP1L2_uc001lbp.3_Missense_Mutation_p.T645M|AFAP1L2_uc001lbr.1_Missense_Mutation_p.T616M|AFAP1L2_uc001lbm.3_Missense_Mutation_p.T56M|AFAP1L2_uc010qsd.2_Missense_Mutation_p.T183M|AFAP1L2_uc001lbq.1_Missense_Mutation_p.T139M	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.	617					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	SH2 domain binding|SH3 domain binding|protein tyrosine kinase activator activity	p.T617T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CTGCTGTTCCGTCTGGATTTT	0.607													15	148					0	0	1	0	0	A	116060060	G	A	116060060	3	1	162	1	0	0	0	0	1	0	0	0	355	1145	40	1	626	1	AFAP1L2	10	116060060	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08	102235054	116060060	19474687	27	7244											
MLL	4297	broad.mit.edu	37	chr11	118374340	118374340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccagtggcccaaccaagccCcaataatacctcatgccagg	12	6	7	16	0	1	0	1	0	0	0	2	0	2	0	7	2	4	0	7	2	5	2			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr11:118374340C>T	uc001pta.3	+	26	7747	c.7724C>T	c.(7723-7725)cCc>cTc	p.P2575L	MLL_uc001ptb.3_Missense_Mutation_p.P2578L	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	2575					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CAACCAAGCCCCAATAATACC	0.473			"T, O"	"MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"	"AML, ALL"								11	56					0	0	1	0	0	T	118374340	C	T	118374340	3	4	162	1	0	0	0	0	1	0	0	0	9620	623	22	3	7830	3	MLL	11	118374340	Missense_Mutation	SNP	C	TCGA-HT-7469-01A-11D-2253-08		118374340	16632176	28	7245											
OR8B4	283162	broad.mit.edu	37	chr11	124294595	124294595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaagaggaaaaagtacatgGgggtgtgaaggctaggattt	14	9	16	2	0	0	3	0	2	0	1	0	5	0	5	0	5	1	2	0	5	6	3			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr11:124294595G>A	uc010sak.2	-	0	173	c.173C>T	c.(172-174)cCc>cTc	p.P58L		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P58A(1)|p.P58P(1)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AAAGTACATGGGGGTGTGAAG	0.413													27	50					0	0	1	0	0	A	124294595	G	A	124294595	3	1	162	1	0	0	0	0	1	0	0	0	11229	1232	43	3	758	3	OR8B4	11	124294595	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08	5920255	124294595	10711921	29	7246											
MYF5	4617	broad.mit.edu	37	chr12	81110845	81110845	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgcctctcagcaggatGgacgtgatggatggctgcca	7	8	14	12	2	1	1	1	1	1	0	2	4	1	4	3	4	3	2	3	4	0	0			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr12:81110845G>A	uc001szg.2	+	0	138	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	1					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TCAGCAGGATGGACGTGATGG	0.642													28	49					0	0	1	0	0	A	81110845	G	A	81110845	3	1	162	1	0	0	0	0	1	0	0	0	10027	1348	47	3	5	3	MYF5	12	81110845	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08		81110845	52741050	30	7247											
PCDH20	64881	broad.mit.edu	37	chr13	61986933	61986933	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaaccacaccatctatctcGtttgctatgtaacgagggac	12	11	7	11	2	2	0	0	0	2	0	3	2	2	1	2	1	3	3	2	1	5	5			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr13:61986933G>A	uc001vid.4	-	1	1663	c.1299C>T	c.(1297-1299)aaC>aaT	p.N433N	PCDH20_uc010thj.2_Silent_p.N433N	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	406	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CATCTATCTCGTTTGCTATGT	0.418													22	86					0	0	1	0	0	A	61986933	G	A	61986933	2	1	162	1	0	0	0	0	0	0	0	1	11515	1136	40	1		1	PCDH20	13	61986933	Silent	SNP	G	TCGA-HT-7469-01A-11D-2253-08		61986933	53182945	31	7248											
MYH6	4624	broad.mit.edu	37	chr14	23862627	23862627	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctcaacctgaaggtcaTccagggcctgctgatgggcc	7	9	11	14	0	2	2	2	2	0	0	4	2	4	2	5	3	2	1	5	3	2	1			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr14:23862627T>C	uc001wjv.3	-	22	3100	c.3029A>G	c.(3028-3030)gAt>gGt	p.D1010G		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1010					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTGAAGGTCATCCAGGGCCTG	0.512													56	53					0	0	1	0	0	C	23862627	T	C	23862627	3	2	162	1	0	0	0	0	1	0	0	0	10038	1435	50	3	2858	3	MYH6	14	23862627	Missense_Mutation	SNP	T	TCGA-HT-7469-01A-11D-2253-08		23862627	83486913	32	7249											
MGAT2	4247	broad.mit.edu	37	chr14	50089217	50089220	+	Frame_Shift_Del	DEL	CTAA	CTAA	-																															aatacatgtttccagaaactCtaactatcagtgaaaagttt																										TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr14:50089217_50089220delCTAA	uc001wwr.3	+	0	1729_1732	c.1231_1234delCTAA	c.(1231-1236)ctaactfs	p.L411fs	NEMF_uc010anj.1_Intron|RPL36AL_uc001wwq.1_5'Flank	NM_002408	NP_002399	Q10469	MGAT2_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase (MGAT2), mRNA.	411					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					TCCAGAAACTCTAACTATCAGTGA	0.392													29	47	---	---	---	---						-	50089220	CTAA	-	50089217	7	5	162	1	0	1	0	1	0	0	0	0	9543	912	32	0	1233	0	MGAT2	14	50089217	Frame_Shift_Del	DEL	CTAA	TCGA-HT-7469-01A-11D-2253-08	26226590	50089217	57260323	33	7250											
AHNAK2	113146	broad.mit.edu	37	chr14	105421333	105421333	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggccgtgctgggcatcgctGgaagcccactcttcatcctg	5	9	13	14	2	2	0	1	0	1	0	4	1	3	1	3	3	2	3	3	3	1	1			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr14:105421333G>A	uc010axc.1	-	5	732	c.612C>T	c.(610-612)tcC>tcT	p.S204S	AHNAK2_uc021seo.1_5'Flank|AHNAK2_uc001ypx.2_Silent_p.S104S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	204						nucleus		p.E204K(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCATCGCTGGAAGCCCACT	0.582													3	24					0	0	1	0	0	A	105421333	G	A	105421333	2	1	162	1	0	0	0	0	0	0	0	1	415	1335	47	3		3	AHNAK2	14	105421333	Silent	SNP	G	TCGA-HT-7469-01A-11D-2253-08	55332116	105421333	1928207	34	7251											
LRRC49	54839	broad.mit.edu	37	chr15	71300791	71300791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cataccttgttgaagtggacGgggatacactttccctatat	10	13	9	9	1	0	1	0	1	0	0	1	3	1	3	2	3	2	1	2	3	5	7			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr15:71300791G>A	uc010ukf.2	+	11	1564	c.1258G>A	c.(1258-1260)Ggg>Agg	p.G420R	LRRC49_uc002asu.3_Missense_Mutation_p.G405R|LRRC49_uc002asx.3_Missense_Mutation_p.G371R|LRRC49_uc002asw.3_Missense_Mutation_p.G415R|LRRC49_uc002asy.3_Missense_Mutation_p.G121R|LRRC49_uc002asz.3_Missense_Mutation_p.G387R	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	415						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TGAAGTGGACGGGGATACACT	0.418													3	61					0	0	1	0	0	A	71300791	G	A	71300791	3	1	162	1	0	0	0	0	1	0	0	0	9006	1116	39	2	1289	2	LRRC49	15	71300791	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08		71300791	31230601	35	7252											
TXNDC11	51061	broad.mit.edu	37	chr16	11785796	11785796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcagggggacgctgtgatcGttggcgggtctggcagctgt	5	9	19	8	3	1	1	0	1	1	0	2	2	1	2	0	5	2	5	0	5	0	1			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr16:11785796G>A	uc010buu.1	-	8	1393	c.1331C>T	c.(1330-1332)aCg>aTg	p.T444M	TXNDC11_uc002dbg.1_Missense_Mutation_p.T417M	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	Homo sapiens thioredoxin domain containing 11 (TXNDC11), mRNA.	444					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CGCTGTGATCGTTGGCGGGTC	0.642													16	25					0	0	1	0	0	A	11785796	G	A	11785796	3	1	162	1	0	0	0	0	1	0	0	0	16789	1145	40	1	1646	1	TXNDC11	16	11785796	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08		11785796	78568957	36	7253											
TP53	7157	broad.mit.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	6	8	16	11	2	1	1	1	1	0	0	2	3	2	2	4	5	2	2	4	5	0	1	rs121912651		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr17:7577539G>A	uc002gim.2	-	6	936	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.3_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W|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.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(1057)|p.R248Q(565)|p.R248L(70)|p.R155W(28)|p.R248G(24)|p.R248P(16)|p.R248R(12)|p.N247N(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.M246_P250delMNRRP(4)|p.N247_R248>KW(4)|p.N247_R248delNR(4)|p.N247T(4)|p.R248fs*97(4)|p.N247I(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247K(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.N247_R248>IP(2)|p.R248fs*>39(1)|p.unknown(1)|p.N247F(1)|p.N247fs*98(1)|p.R248Y(1)|p.G245fs*14(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)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)			31	51					0	0	1	0	0	A	7577539	G	A	7577539	3	1	162	1	0	0	0	0	1	0	0	0	16378	1115	39	2	548	2	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08		7577539	73617671	37	7254											
TP53	7157	broad.mit.edu	37	chr17	7579314	7579314	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctcagggcaactgaccgTgcaagtcacagacttggctg	9	7	11	14	1	2	2	2	1	0	1	2	2	2	2	3	2	2	3	3	2	2	1			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr17:7579314T>G	uc002gim.2	-	3	567	c.373A>C	c.(373-375)Acg>Ccg	p.T125P	TP53_uc002gig.1_Missense_Mutation_p.T125P|TP53_uc002gih.3_Missense_Mutation_p.T125P|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Missense_Mutation_p.T125P|TP53_uc010cnh.1_Missense_Mutation_p.T125P|TP53_uc002gij.2_Missense_Mutation_p.T125P|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Missense_Mutation_p.T86P|TP53_uc010cnk.1_Missense_Mutation_p.T140P	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.T125T(27)|p.T125M(10)|p.0?(8)|p.T125P(6)|p.C124R(4)|p.T125K(4)|p.G59fs*23(3)|p.T125R(3)|p.C124G(2)|p.C124fs*46(2)|p.G105_T125del21(2)|p.T125fs*45(2)|p.T125fs*24(2)|p.T125A(2)|p.C124fs*1(1)|p.T125_Y126insX(1)|p.V73fs*9(1)|p.Y126fs*11(1)|p.C124*(1)|p.Y107fs*44(1)|p.C124Y(1)|p.S33fs*23(1)|p.C124S(1)|p.P13fs*18(1)|p.C124fs*48(1)|p.C124fs*25(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)		CAACTGACCGTGCAAGTCACA	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)			39	43					0	0	1	0	0	G	7579314	T	G	7579314	3	3	162	1	0	0	0	0	1	0	0	0	16378	1696	59	5	929	5	TP53	17	7579314	Missense_Mutation	SNP	T	TCGA-HT-7469-01A-11D-2253-08	1775	7579314	73615896	38	7255											
MKNK2	2872	broad.mit.edu	37	chr19	2039675	2039675	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggccctttgccgccgctgCgccagcttggactgggaggg	3	8	16	14	3	0	0	0	0	0	0	0	2	0	2	4	4	3	2	4	4	0	2			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:2039675C>T	uc002lus.2	-	13	1580	c.1335G>A	c.(1333-1335)gcG>gcA	p.A445A	MKNK2_uc021ump.1_5'Flank|MKNK2_uc002luq.1_Intron|MKNK2_uc010xgu.1_Silent_p.A284A|MKNK2_uc010xgv.1_Silent_p.A314A|MKNK2_uc002lur.2_Intron|MKNK2_uc002lut.1_3'UTR	NM_199054	NP_951009	Q9HBH9	MKNK2_HUMAN	Homo sapiens MAP kinase interacting serine/threonine kinase 2 (MKNK2), transcript variant 2, mRNA.	445					cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|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)		GCCGCCGCTGCGCCAGCTTGG	0.692													3	45					0	0	1	0	0	T	2039675	C	T	2039675	2	4	162	1	0	0	0	0	0	0	0	1	9605	755	27	1		1	MKNK2	19	2039675	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08		2039675	57089308	39	7256											
SEMA6B	10501	broad.mit.edu	37	chr19	4550923	4550923	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtcaggtcaaaggcgcAgacagccgagccagggatgc	10	5	15	11	2	2	1	2	0	0	1	2	3	2	2	2	3	3	1	2	3	1	0			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:4550923A>G	uc010dud.2	-	10	1271	c.1009T>C	c.(1009-1011)Tgc>Cgc	p.C337R	SEMA6B_uc010xih.1_Missense_Mutation_p.C337R	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B (SEMA6B), mRNA.	337	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.C337S(2)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAAAGGCGCAGACAGCCGAG	0.627													3	94					0	0	1	0	0	G	4550923	A	G	4550923	3	3	162	1	0	0	0	0	1	0	0	0	14040	188	7	4	1685	4	SEMA6B	19	4550923	Missense_Mutation	SNP	A	TCGA-HT-7469-01A-11D-2253-08	2511248	4550923	54578060	40	7257											
DNMT1	1786	broad.mit.edu	37	chr19	10250948	10250948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagccggggttgttcagccGgaacgcctgggccgcagggt	5	6	19	11	4	1	0	1	0	0	0	1	2	1	2	4	6	3	3	4	6	1	2			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:10250948G>A	uc002mng.3	-	31	3712	c.3532C>T	c.(3532-3534)Cgg>Tgg	p.R1178W	DNMT1_uc002mnf.3_Missense_Mutation_p.R102W|DNMT1_uc010xlc.2_Missense_Mutation_p.R1194W|DNMT1_uc002mnh.3_Missense_Mutation_p.R1073W|DNMT1_uc010xld.2_Missense_Mutation_p.R1178W	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	1178	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TTGTTCAGCCGGAACGCCTGG	0.612													3	76					0	0	1	0	0	A	10250948	G	A	10250948	3	1	162	1	0	0	0	0	1	0	0	0	4675	1115	39	2	1354	2	DNMT1	19	10250948	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08	5700025	10250948	48878035	41	7258											
UNC13A	23025	broad.mit.edu	37	chr19	17743590	17743590	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcctggggcaggggacttaCgcagggtactcaggcacgcg	7	5	18	11	3	1	0	1	0	0	0	1	1	1	1	1	7	2	4	1	7	2	2			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:17743590C>T	uc021uqk.1	-	28	3467	c.3425_splice	c.e28+1	p.A1142_splice		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	1143	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AGGGGACTTACGCAGGGTACT	0.552													21	90					0	0	1	0	0	T	17743590	C	T	17743590	5	4	162	1	0	0	0	0	0	0	1	0	16981	550	19	1	1746	1	UNC13A	19	17743590	Splice_Site	SNP	C	TCGA-HT-7469-01A-11D-2253-08	7492642	17743590	41385393	42	7259											
RYR1	6261	broad.mit.edu	37	chr19	39039015	39039015	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgaagccttccaggactaCgtaacggatccccgtggcct	8	9	10	14	3	1	1	0	1	1	0	3	3	3	3	5	3	3	1	5	3	3	3			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:39039015C>T	uc002oit.3	+	88	12367	c.12237C>T	c.(12235-12237)taC>taT	p.Y4079Y	RYR1_uc002oiu.3_Silent_p.Y4074Y|RYR1_uc002oiv.1_Silent_p.Y988Y	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4079					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCCAGGACTACGTAACGGATC	0.552													34	60					0	0	1	0	0	T	39039015	C	T	39039015	2	4	162	1	0	0	0	0	0	0	0	1	13768	547	19	1		1	RYR1	19	39039015	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08	21295425	39039015	20089968	43	7260											
NSFL1C	55968	broad.mit.edu	37	chr20	1445045	1445045	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatgtcttcatcccctccGtcctcataaaagctcgctag	10	11	5	15	2	3	0	2	0	1	0	7	0	6	0	4	0	1	2	4	0	4	3			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr20:1445045G>A	uc002wfc.3	-	1	1000	c.132C>T	c.(130-132)gaC>gaT	p.D44D	NSFL1C_uc021vzq.1_Intron|NSFL1C_uc002wfe.3_Silent_p.D44D	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN	Homo sapiens NSFL1 (p97) cofactor (p47) (NSFL1C), transcript variant 1, mRNA.	44						Golgi stack|chromosome|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						CATCCCCTCCGTCCTCATAAA	0.522													12	165					0	0	1	0	0	A	1445045	G	A	1445045	2	1	162	1	0	0	0	0	0	0	0	1	10672	1136	40	1		1	NSFL1C	20	1445045	Silent	SNP	G	TCGA-HT-7469-01A-11D-2253-08		1445045	61580475	44	7261											
CHGB	1114	broad.mit.edu	37	chr20	5905694	5905694	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaattcagccaaaggggctGactgtcattggagcggtggg	10	8	16	7	1	2	1	2	1	0	0	2	3	2	2	1	5	2	1	1	5	2	2			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr20:5905694G>A	uc002wmg.3	+	4	2339	c.2033G>A	c.(2032-2034)tGa>tAa	p.*678*	CHGB_uc010zqz.2_Silent_p.*361*	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	0						extracellular region	hormone activity	p.G677G(1)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CAAAGGGGCTGACTGTCATTG	0.438													23	23					0	0	1	0	0	A	5905694	G	A	5905694	2	1	162	1	0	0	0	0	0	0	0	1	3339	1285	45	3		3	CHGB	20	5905694	Silent	SNP	G	TCGA-HT-7469-01A-11D-2253-08	4460649	5905694	57119826	45	7262											
BPI	671	broad.mit.edu	37	chr20	36952337	36952337	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccagtgatggagtttccCgctgcccatgaccgcatggt	7	9	11	14	2	0	2	0	2	0	0	1	3	1	3	5	2	1	3	5	2	0	1			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr20:36952337C>T	uc002xib.2	+	7	896	c.834C>T	c.(832-834)ccC>ccT	p.P278P		NM_001725	NP_001716	P17213	BPI_HUMAN	Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.	278					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TGGAGTTTCCCGCTGCCCATG	0.537													34	54					0	0	1	0	0	T	36952337	C	T	36952337	2	4	162	1	0	0	0	0	0	0	0	1	1490	639	23	2		2	BPI	20	36952337	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08	31046643	36952337	26073183	46	7263											
ZNF217	7764	broad.mit.edu	37	chr20	52198916	52198916	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtaagtgaaagaatctttGtgtgttctcatgtggatctc	9	15	10	7	1	3	2	1	1	3	1	5	3	3	3	1	1	0	2	1	1	3	3			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr20:52198916G>C	uc002xwq.4	-	0	792	c.450C>G	c.(448-450)caC>caG	p.H150Q	ZNF217_uc010gij.1_Missense_Mutation_p.H142Q	NM_006526	NP_006517	O75362	ZN217_HUMAN	Homo sapiens zinc finger protein 217 (ZNF217), mRNA.	150					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			AAGAATCTTTGTGTGTTCTCA	0.423													8	158					0	0	1	0	0	C	52198916	G	C	52198916	3	2	162	1	0	0	0	0	1	0	0	0	17769	1368	48	5	2712	5	ZNF217	20	52198916	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08	15246579	52198916	10826604	47	7264											
MX2	4600	broad.mit.edu	37	chr21	42774042	42774042	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagcccgcccttagcatgctCcagaaagccatgggtgagga	10	6	13	12	1	0	2	0	1	0	1	1	4	1	3	4	2	4	2	4	2	2	1			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr21:42774042C>T	uc002yzf.1	+	10	1664	c.1560C>T	c.(1558-1560)ctC>ctT	p.L520L	MX2_uc002yzg.1_Silent_p.L243L|MX2_uc010gop.1_Silent_p.L2L	NM_002463	NP_002454	P20592	MX2_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.	520					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TTAGCATGCTCCAGAAAGCCA	0.517													21	67					0	0	1	0	0	T	42774042	C	T	42774042	2	4	162	1	0	0	0	0	0	0	0	1	9998	842	30	3		3	MX2	21	42774042	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08		42774042	5355853	48	7265											
ADARB1	104	broad.mit.edu	37	chr21	46624592	46624592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccagggccatgtaccagcGgatctccaacatagaggacc	11	7	10	13	1	1	1	0	0	1	1	3	3	2	3	5	3	3	1	5	3	3	3			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr21:46624592G>A	uc002zgy.2	+	9	2243	c.1808G>A	c.(1807-1809)cGg>cAg	p.R603Q	ADARB1_uc002zgs.2_Non-coding_Transcript|ADARB1_uc002zgw.2_Missense_Mutation_p.R563Q|ADARB1_uc002zgv.2_Non-coding_Transcript|ADARB1_uc002zgt.2_Missense_Mutation_p.R563Q|ADARB1_uc010gpx.2_Non-coding_Transcript|ADARB1_uc002zgr.2_Missense_Mutation_p.R603Q|ADARB1_uc002zgq.2_Non-coding_Transcript|ADARB1_uc002zgu.2_Non-coding_Transcript	NM_015833	NP_056648	P78563	RED1_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B1 (ADARB1), transcript variant 2, mRNA.	603	A to I editase.				RNA processing|adenosine to inosine editing|mRNA modification|mRNA processing	nucleoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|mRNA binding|metal ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		ATGTACCAGCGGATCTCCAAC	0.522													37	55					0	0	1	0	0	A	46624592	G	A	46624592	3	1	162	1	0	0	0	0	1	0	0	0	282	1116	39	2	1838	2	ADARB1	21	46624592	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08	3850550	46624592	1505303	49	7266											
SEC14L4	284904	broad.mit.edu	37	chr22	30886219	30886219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catccggctgtaggtgttgtCgaagcgcaggacatctgcag	8	9	14	10	3	1	0	0	0	1	0	3	2	2	1	1	3	2	5	1	3	2	2			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr22:30886219C>T	uc003aid.2	-	11	1196	c.1096G>A	c.(1096-1098)Gac>Aac	p.D366N	SEC14L4_uc011akz.1_Intron|SEC14L4_uc003aie.2_Missense_Mutation_p.D351N|SEC14L4_uc003aif.2_Silent_p.S326S	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	366	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	TAGGTGTTGTCGAAGCGCAGG	0.592													27	85					0	0	1	0	0	T	30886219	C	T	30886219	3	4	162	1	0	0	0	0	1	0	0	0	13984	884	31	2	134	2	SEC14L4	22	30886219	Missense_Mutation	SNP	C	TCGA-HT-7469-01A-11D-2253-08		30886219	20418347	50	7267											
DMC1	11144	broad.mit.edu	37	chr22	38935415	38935415	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccctaaggcgatctggaCggctggagtatgccaagatt	9	10	13	9	2	1	1	0	0	1	1	2	4	2	3	2	4	1	2	2	4	3	3			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr22:38935415C>T	uc003avz.1	-	8	672	c.497G>A	c.(496-498)cGt>cAt	p.R166H	DMC1_uc011anv.1_Intron	NM_007068	NP_008999	Q14565	DMC1_HUMAN	Homo sapiens DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) (DMC1), mRNA.	166					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					GCGATCTGGACGGCTGGAGTA	0.403								Homologous recombination					35	46					0	0	1	0	0	T	38935415	C	T	38935415	3	4	162	1	0	0	0	0	1	0	0	0	4579	536	19	1	549	1	DMC1	22	38935415	Missense_Mutation	SNP	C	TCGA-HT-7469-01A-11D-2253-08	8049196	38935415	12369151	51	7268											
ATRX	546	broad.mit.edu	37	chrX	76939510	76939511	+	Frame_Shift_Del	DEL	AA	AA	-																															tcgctcgaaactcggaatttAagtcttcttccaatgcaaga																										TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chrX:76939510_76939511delAA	uc004ecp.4	-	8	1469_1470	c.1237_1238delTT	c.(1237-1239)ttafs	p.L413fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.L375fs|ATRX_uc004eco.4_Frame_Shift_Del_p.L198fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.L374fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.L413fs|ATRX_uc010nly.1_Frame_Shift_Del_p.L358fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	413					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTCGGAATTTAAGTCTTCTTCC	0.361			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						187	6	---	---	---	---						-	76939511	AA	-	76939510	7	5	162	1	0	1	0	1	0	0	0	0	1208	372	13	0	6348	0	ATRX	23	76939510	Frame_Shift_Del	DEL	AA	TCGA-HT-7469-01A-11D-2253-08		76939510	78331050	52	7269											
RBMX	27316	broad.mit.edu	37	chrX	135956319	135956319	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctagtatctgcttctgccTccccctctatcagatcggct	5	15	6	15	1	5	1	1	0	4	1	7	1	6	1	3	1	2	3	3	1	3	5			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chrX:135956319T>C	uc004fae.2	-	8	1368	c.1158A>G	c.(1156-1158)ggA>ggG	p.G386G	RBMX_uc011mwf.1_Intron|RBMX_uc004fad.1_3'UTR|RBMX_uc011mwg.2_Silent_p.G347G|RBMX_uc004faf.2_Silent_p.G247G	NM_002139	NP_002130	P38159	HNRPG_HUMAN	Homo sapiens RNA binding motif protein, X-linked (RBMX), transcript variant 1, mRNA.	386						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TGCTTCTGCCTCCCCCTCTAT	0.483													4	76					0	0	1	0	0	C	135956319	T	C	135956319	2	2	162	1	0	0	0	0	0	0	0	1	13151	1538	54	4		4	RBMX	23	135956319	Silent	SNP	T	TCGA-HT-7469-01A-11D-2253-08	59016809	135956319	19314241	53	7270											
AGL	178	broad.mit.edu	37	chr1	100346642	100346642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcttctagcatagatcagCgtatgatgctcttccaagta	10	14	8	9	1	4	2	1	1	3	1	5	2	5	2	1	0	3	4	1	0	5	6			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr1:100346642C>T	uc001dsi.1	+	14	2310	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V	AGL_uc001dsj.1_Missense_Mutation_p.A637V|AGL_uc001dsk.1_Missense_Mutation_p.A637V|AGL_uc001dsl.1_Missense_Mutation_p.A637V|AGL_uc001dsm.1_Missense_Mutation_p.A621V|AGL_uc001dsn.1_Missense_Mutation_p.A620V	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	637					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CATAGATCAGCGTATGATGCT	0.353													13	55					0	0	1	0	0	T	100346642	C	T	100346642	3	4	163	1	0	0	0	0	1	0	0	0	384	768	27	1	2033	1	AGL	1	100346642	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08		100346642	148903979	1	7271											
CEPT1	10390	broad.mit.edu	37	chr1	111726868	111726868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtgtttgcaatcagattgCgtctcacctgcacatacatg	10	12	8	11	1	2	1	2	0	1	1	3	1	2	1	1	0	4	3	1	0	2	3			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr1:111726868C>T	uc001eah.1	+	8	1395	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V	CEPT1_uc001eai.1_Missense_Mutation_p.A396V|CEPT1_uc001eaj.1_Missense_Mutation_p.A396V	NM_001007794	NP_006081	Q9Y6K0	CEPT1_HUMAN	Homo sapiens choline/ethanolamine phosphotransferase 1 (CEPT1), transcript variant 2, mRNA.	396						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	AATCAGATTGCGTCTCACCTG	0.398													5	110					0	0	1	0	0	T	111726868	C	T	111726868	3	4	163	1	0	0	0	0	1	0	0	0	3264	768	27	1	1217	1	CEPT1	1	111726868	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	11380226	111726868	137523753	2	7272											
TCHH	7062	broad.mit.edu	37	chr1	152080904	152080904	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgctgttcgtcctccatgaAttttctctcttgttcctggc	3	18	7	13	1	2	1	0	1	2	0	7	1	5	1	3	1	1	3	3	1	1	5	rs71585886		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr1:152080904A>T	uc009wne.1	-	2	5061	c.4789T>A	c.(4789-4791)Ttc>Atc	p.F1597I	TCHH_uc001ezp.2_Missense_Mutation_p.F1597I	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1597	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTCCATGAATTTTCTCTCT	0.582													33	61					0	0	1	0	0	T	152080904	A	T	152080904	3	4	163	1	0	0	0	0	1	0	0	0	15697	101	4	5	1046	5	TCHH	1	152080904	Missense_Mutation	SNP	A	TCGA-HT-7470-01A-12D-2086-08	40354036	152080904	97169717	3	7273											
CFH	3075	broad.mit.edu	37	chr1	196642210	196642210	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctatctataaatgccgccCtggatatagatctcttggaa	11	12	9	9	1	2	1	0	0	2	1	3	3	2	3	2	3	1	1	2	3	7	6			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr1:196642210C>A	uc001gtj.4	+	1	401	c.161C>A	c.(160-162)cCt>cAt	p.P54H	CFH_uc001gti.4_Missense_Mutation_p.P54H|CFH_uc009wyw.3_Missense_Mutation_p.P54H|CFH_uc009wyx.3_Missense_Mutation_p.P54H	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	54	Sushi 1.			RP -> IL (in Ref. 5; CAB41739).	complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AAATGCCGCCCTGGATATAGA	0.403													7	106					0.00621372	0.00641416	1	1	0	A	196642210	C	A	196642210	3	1	163	1	0	0	0	0	1	0	0	0	3283	681	24	5	167	5	CFH	1	196642210	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	44561306	196642210	52608411	4	7274											
C1orf131	128061	broad.mit.edu	37	chr1	231364922	231364922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	taggttaaattcttgtgtatCcacatctctctccaaaacac	12	14	4	11	0	3	0	0	0	3	0	6	0	4	0	2	1	1	2	2	1	6	5			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr1:231364922C>T	uc001hul.3	-	2	521	c.484G>A	c.(484-486)Gat>Aat	p.D162N	C1orf131_uc001hum.3_Missense_Mutation_p.D161N|C1orf131_uc001hun.1_Missense_Mutation_p.D162N|C1orf131_uc010pwd.1_Missense_Mutation_p.D161N	NM_152379	NP_689592	Q8NDD1	CA131_HUMAN	Homo sapiens chromosome 1 open reading frame 131 (C1orf131), mRNA.	162										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TCTTGTGTATCCACATCTCTC	0.264													3	36					0	0	1	0	0	T	231364922	C	T	231364922	3	4	163	1	0	0	0	0	1	0	0	0	1998	855	30	3	417	3	C1orf131	1	231364922	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	34722712	231364922	17885699	5	7275											
RYR2	6262	broad.mit.edu	37	chr1	237872820	237872820	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaacccagaagcagaggagCtcttccgcatggtggctgaa	11	7	12	11	1	1	3	0	1	1	2	2	4	2	4	2	3	3	4	2	3	3	2			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr1:237872820C>T	uc001hyl.1	+	69	10303	c.10183C>T	c.(10183-10185)Ctc>Ttc	p.L3395F	RYR2_uc010pxz.1_Missense_Mutation_p.L350F	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3395					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGCAGAGGAGCTCTTCCGCAT	0.418													9	10					0	0	1	0	0	T	237872820	C	T	237872820	3	4	163	1	0	0	0	0	1	0	0	0	13769	797	28	3	10461	3	RYR2	1	237872820	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	6507898	237872820	11377801	6	7276											
ZNF638	27332	broad.mit.edu	37	chr2	71590305	71590305	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctgattggaatcctgagAtcctcccatcgagaaggtaa	12	10	9	10	1	0	3	0	2	0	2	5	6	4	4	4	2	0	1	4	2	3	2			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr2:71590305A>C	uc002shx.3	+	3	1725	c.1402A>C	c.(1402-1404)Atc>Ctc	p.I468L	ZNF638_uc010fec.2_Missense_Mutation_p.I574L|ZNF638_uc010yqw.1_Missense_Mutation_p.I47L|ZNF638_uc002shw.3_Missense_Mutation_p.I468L|ZNF638_uc002shz.3_Missense_Mutation_p.I468L|ZNF638_uc002shy.3_Missense_Mutation_p.I468L|ZNF638_uc002sia.3_Missense_Mutation_p.I468L|ZNF638_uc002sib.1_Missense_Mutation_p.I468L	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	468					RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GAATCCTGAGATCCTCCCATC	0.264													21	42					0	0	1	0	0	C	71590305	A	C	71590305	3	2	163	1	0	0	0	0	1	0	0	0	18052	333	12	5	1412	5	ZNF638	2	71590305	Missense_Mutation	SNP	A	TCGA-HT-7470-01A-12D-2086-08		71590305	171609068	7	7277											
LRRTM4	80059	broad.mit.edu	37	chr2	76975874	76975874	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgccgacctggcgatggTggcgatgaagctgtggtctc	5	10	16	10	3	1	1	0	1	1	0	2	4	1	1	2	4	3	2	2	4	1	0			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr2:76975874T>C	uc002snr.3	-	3	2135	c.1720A>G	c.(1720-1722)Acc>Gcc	p.T574A	LRRTM4_uc002snq.3_Missense_Mutation_p.T574A	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.	574						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CTGGCGATGGTGGCGATGAAG	0.617													45	143					0	0	1	0	0	C	76975874	T	C	76975874	3	2	163	1	0	0	0	0	1	0	0	0	9042	1696	59	3	56	3	LRRTM4	2	76975874	Missense_Mutation	SNP	T	TCGA-HT-7470-01A-12D-2086-08	5385569	76975874	166223499	8	7278											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr2:209113113G>T	uc002vcs.3	-	3	640	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_uc002vct.3_Missense_Mutation_p.R132S|IDH1_uc002vcu.3_Missense_Mutation_p.R132S	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								28	78					9.17885e-22	1.03061e-21	1	1	0	T	209113113	G	T	209113113	3	4	163	1	0	0	0	0	1	0	0	0	7494	1058	37	5	878	5	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-7470-01A-12D-2086-08	132137239	209113113	34086260	9	7279											
AAMP	14	broad.mit.edu	37	chr2	219134766	219134766	+	Frame_Shift_Del	DEL	G	G	-																															ggaagcttagggtctccagtGggggggtgtcagcagcagcc																										TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr2:219134766delG	uc002vhl.3	-	0	128	c.44delC	c.(43-45)ccafs	p.P15fs	PNKD_uc002vhn.3_5'Flank|AAMP_uc002vhk.3_Frame_Shift_Del_p.P15fs|PNKD_uc002vhm.2_5'Flank	NM_001087	NP_001078	Q13685	AAMP_HUMAN	Homo sapiens angio-associated, migratory cell protein (AAMP), mRNA.	15					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding	p.L16fs*9(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCTCCAGTGGGGGGGTGTC	0.617													11	488	---	---	---	---						-	219134766	G	-	219134766	7	5	163	1	0	1	0	1	0	0	0	0	17	1348	47	0	1304	0	AAMP	2	219134766	Frame_Shift_Del	DEL	G	TCGA-HT-7470-01A-12D-2086-08	10021653	219134766	24064607	10	7280											
SPHKAP	80309	broad.mit.edu	37	chr2	228846502	228846502	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctcctcatgcattttgcaGtactggacaactgcatggaa	10	12	9	10	0	1	0	1	0	0	0	2	2	2	2	1	2	6	5	1	2	3	3			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr2:228846502G>A	uc002vpq.2	-	11	5081	c.5034C>T	c.(5032-5034)taC>taT	p.Y1678Y	SPHKAP_uc002vpp.2_Silent_p.Y1649Y|SPHKAP_uc010zlx.1_3'UTR	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1678						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCATTTTGCAGTACTGGACAA	0.463													4	91					0	0	1	0	0	A	228846502	G	A	228846502	2	1	163	1	0	0	0	0	0	0	0	1	15047	1024	36	3		3	SPHKAP	2	228846502	Silent	SNP	G	TCGA-HT-7470-01A-12D-2086-08	9711736	228846502	14352871	11	7281											
TRPM8	79054	broad.mit.edu	37	chr2	234905020	234905020	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccaggtctggaagttccAgaggtacttcctggtgcagg	8	10	14	9	0	1	2	0	1	1	1	3	3	3	3	3	5	2	3	3	5	2	3			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr2:234905020A>G	uc002vvh.3	+	21	3030	c.2990A>G	c.(2989-2991)cAg>cGg	p.Q997R	TRPM8_uc010fyj.3_Missense_Mutation_p.Q575R|TRPM8_uc010fyk.3_Non-coding_Transcript	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	997						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGGAAGTTCCAGAGGTACTTC	0.537													8	70					0	0	1	0	0	G	234905020	A	G	234905020	3	3	163	1	0	0	0	0	1	0	0	0	16589	188	7	4	3072	4	TRPM8	2	234905020	Missense_Mutation	SNP	A	TCGA-HT-7470-01A-12D-2086-08	6058518	234905020	8294353	12	7282											
KCNH8	131096	broad.mit.edu	37	chr3	19575424	19575424	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcccaagcagatcagaggagGgcagcttcagtcagggaact	12	6	13	10	0	3	2	3	0	0	2	4	4	4	4	1	3	3	3	1	3	2	1			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr3:19575424G>T	uc003cbk.1	+	15	3352	c.3157G>T	c.(3157-3159)Ggc>Tgc	p.G1053C	KCNH8_uc010hex.1_Missense_Mutation_p.G514C	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	1053	Ser-rich.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ATCAGAGGAGGGCAGCTTCAG	0.488													5	51					0.014758	0.0149922	1	1	0	T	19575424	G	T	19575424	3	4	163	1	0	0	0	0	1	0	0	0	8038	1232	43	5	3219	5	KCNH8	3	19575424	Missense_Mutation	SNP	G	TCGA-HT-7470-01A-12D-2086-08		19575424	178447006	13	7283											
MYRIP	25924	broad.mit.edu	37	chr3	40286033	40286033	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtggcactgatgagaccCatctggcggatctggaggac	10	7	14	10	1	2	2	0	2	2	1	2	6	2	5	1	5	0	1	1	5	0	0			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr3:40286033C>A	uc003cka.3	+	12	2332	c.2197C>A	c.(2197-2199)Cat>Aat	p.H733N	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Missense_Mutation_p.H668N|MYRIP_uc010hhw.3_Missense_Mutation_p.H644N|MYRIP_uc011ayz.2_Missense_Mutation_p.H546N|FLJ33065_uc003ckb.3_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	733	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TGATGAGACCCATCTGGCGGA	0.602													3	72					1	1	1	1	0	A	40286033	C	A	40286033	3	1	163	1	0	0	0	0	1	0	0	0	10100	594	21	5	2243	5	MYRIP	3	40286033	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	20710609	40286033	157736397	14	7284											
ABI3BP	25890	broad.mit.edu	37	chr3	100489774	100489774	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagggactgttgtcaggcttTtggatgtatcgcacatgagg	8	12	14	7	1	1	1	1	1	0	0	2	3	1	3	0	4	0	4	0	4	1	4			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr3:100489774T>C	uc003dun.3	-	28	2506	c.2421A>G	c.(2419-2421)caA>caG	p.Q807Q	ABI3BP_uc003duj.3_Silent_p.Q387Q|ABI3BP_uc003duk.3_Silent_p.Q516Q|ABI3BP_uc003dul.3_Silent_p.Q637Q|ABI3BP_uc011bhd.2_Silent_p.Q761Q|ABI3BP_uc003dum.3_Silent_p.Q218Q	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	807						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGTCAGGCTTTTGGATGTATC	0.468													19	120					0	0	1	0	0	C	100489774	T	C	100489774	2	2	163	1	0	0	0	0	0	0	0	1	91	1838	64	3		3	ABI3BP	3	100489774	Silent	SNP	T	TCGA-HT-7470-01A-12D-2086-08	60203741	100489774	97532656	15	7285											
GPR149	344758	broad.mit.edu	37	chr3	154146852	154146852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tacgtaggagctggagcagtCcaccaggcagccccagggcg	9	4	15	13	2	0	0	0	0	0	0	1	2	1	2	4	4	4	4	4	4	2	2			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr3:154146852C>T	uc003faa.3	-	0	653	c.553G>A	c.(553-555)Gac>Aac	p.D185N		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	185						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTGGAGCAGTCCACCAGGCAG	0.657													7	37					0	0	1	0	0	T	154146852	C	T	154146852	3	4	163	1	0	0	0	0	1	0	0	0	6654	855	30	3	1658	3	GPR149	3	154146852	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	53657078	154146852	43875578	16	7286											
STATH	6779	broad.mit.edu	37	chr4	70866654	70866654	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taccaaccacaataccaacaAtataccttttaatatcatca	18	11	0	12	0	2	0	2	0	0	0	2	0	2	0	4	0	5	0	4	0	10	7			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr4:70866654A>G	uc003heu.1	+	4	287	c.177A>G	c.(175-177)caA>caG	p.Q59Q	STATH_uc003hev.1_Silent_p.Q49Q	NM_003154	NP_003145	P02808	STAT_HUMAN	Homo sapiens statherin (STATH), transcript variant 1, mRNA.	59	Hydrophobic; inhibits precipitation of calcium phosphate salts.				biomineral tissue development|negative regulation of bone mineralization|ossification|saliva secretion	extracellular region	extracellular matrix constituent, lubricant activity|hydroxyapatite binding|protein binding|structural constituent of tooth enamel			lung(2)|skin(1)	3						AATACCAACAATATACCTTTT	0.373													38	127					0	0	1	0	0	G	70866654	A	G	70866654	2	3	163	1	0	0	0	0	0	0	0	1	15270	98	4	3		3	STATH	4	70866654	Silent	SNP	A	TCGA-HT-7470-01A-12D-2086-08		70866654	120287622	17	7287											
OTUD4	54726	broad.mit.edu	37	chr4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-																															aggtttaaatccattcacatCagcagcagcagcagcagtct																										TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr4:146077123_146077125delCAG	uc003ika.4	-	7	596_598	c.458_460delCTG	c.(457-462)gctgat>gat	p.A153del		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	218	OTU.						protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34													8	142	---	---	---	---						-	146077125	CAG	-	146077123	7	5	163	1	0	1	0	1	0	0	0	0	11314	826	29	0	2745	0	OTUD4	4	146077123	In_Frame_Del	DEL	CAG	TCGA-HT-7470-01A-12D-2086-08	75210469	146077123	45077153	18	7288											
CAPSL	133690	broad.mit.edu	37	chr5	35910530	35910530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccatctttatcaaacctccGgaaaagttcttccacctctt	10	14	3	14	1	4	0	1	0	3	0	7	1	7	1	5	1	1	1	5	1	4	5			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr5:35910530G>A	uc003jjt.1	-	2	348	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W	CAPSL_uc003jju.1_Missense_Mutation_p.R85W	NM_001042625	NP_653248	Q8WWF8	CAPSL_HUMAN	Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA.	85	EF-hand 2.		R -> Q (in dbSNP:rs1445898).			cytoplasm	calcium ion binding	p.R85R(3)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TCAAACCTCCGGAAAAGTTCT	0.358													14	74					0	0	1	0	0	A	35910530	G	A	35910530	3	1	163	1	0	0	0	0	1	0	0	0	2639	1115	39	2	385	2	CAPSL	5	35910530	Missense_Mutation	SNP	G	TCGA-HT-7470-01A-12D-2086-08		35910530	145004730	19	7289											
RNF145	153830	broad.mit.edu	37	chr5	158621725	158621725	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggggtcatattcttaccTggaaatttgatgtccagcat	11	14	9	7	0	2	1	1	1	1	0	3	2	3	2	2	3	2	1	2	3	4	4			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr5:158621725T>C	uc010jiq.2	-	3	533	c.383_splice	c.e3+1	p.R128_splice	RNF145_uc011ddy.2_Splice_Site_p.R112_splice|RNF145_uc003lxo.2_Splice_Site_p.R126_splice|RNF145_uc011ddz.2_Splice_Site_p.R115_splice|RNF145_uc003lxp.3_Splice_Site_p.R98_splice|RNF145_uc011dea.2_Splice_Site_p.R114_splice	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	98						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TATTCTTACCTGGAAATTTGA	0.363													53	119					0	0	1	0	0	C	158621725	T	C	158621725	5	2	163	1	0	0	0	0	0	0	1	0	13447	1594	55	4	1735	4	RNF145	5	158621725	Splice_Site	SNP	T	TCGA-HT-7470-01A-12D-2086-08	122711195	158621725	22293535	20	7290											
FAM153B	202134	broad.mit.edu	37	chr5	175533580	175533580	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatgcaggtggacccagcCacgccggcaaagagtacgta	12	5	13	11	3	0	2	0	0	0	2	0	3	0	3	3	3	3	4	3	3	4	3			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr5:175533580C>A	uc003mdk.3	+	15	906	c.849C>A	c.(847-849)gcC>gcA	p.A283A	FAM153B_uc021yic.1_Non-coding_Transcript	NM_001079529	NP_001072997	P0C7A2	F153B_HUMAN	Homo sapiens family with sequence similarity 153, member B (FAM153B), mRNA.	283								p.P282Q(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		TGGACCCAGCCACGCCGGCAA	0.473													17	204					3.3946e-10	3.68228e-10	1	1	0	A	175533580	C	A	175533580	2	1	163	1	0	0	0	0	0	0	0	1	5461	581	21	5		5	FAM153B	5	175533580	Silent	SNP	C	TCGA-HT-7470-01A-12D-2086-08	16911855	175533580	5381680	21	7291											
COL19A1	1310	broad.mit.edu	37	chr6	70877920	70877920	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcacctctttcctaagggtAttccatttaatgaacgaaac	12	13	5	11	1	2	1	1	1	1	0	4	2	4	1	3	1	2	1	3	1	5	6			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr6:70877920A>G	uc003pfc.1	+	37	2566	c.2449A>G	c.(2449-2451)Att>Gtt	p.I817V		NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	817	Triple-helical region 4 (COL4).			GIPFNERN -> VSCSRLKI (in Ref. 6; AAA36358).	cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TCCTAAGGGTATTCCATTTAA	0.279													11	75					0	0	1	0	0	G	70877920	A	G	70877920	3	3	163	1	0	0	0	0	1	0	0	0	3676	449	16	3	2595	3	COL19A1	6	70877920	Missense_Mutation	SNP	A	TCGA-HT-7470-01A-12D-2086-08		70877920	100237147	22	7292											
DOPEY1	23033	broad.mit.edu	37	chr6	83839856	83839856	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcagactgtgagcatgtgCagcctccacagtggctccag	8	10	11	12	0	1	2	1	1	0	1	3	2	3	2	3	1	3	3	3	1	0	1			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr6:83839856C>T	uc011dyy.2	+	16	2589	c.2329C>T	c.(2329-2331)Cag>Tag	p.Q777*	DOPEY1_uc003pjs.1_Nonsense_Mutation_p.Q786*|DOPEY1_uc010kbl.1_Nonsense_Mutation_p.Q777*	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	786					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGAGCATGTGCAGCCTCCACA	0.418													21	49					0	0	1	0	0	T	83839856	C	T	83839856	4	4	163	1	0	0	0	0	0	1	0	0	4707	711	25	3	2414	3	DOPEY1	6	83839856	Nonsense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	12961936	83839856	87275211	23	7293											
PRDM1	639	broad.mit.edu	37	chr6	106555167	106555167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagaaggaaattctggccGtggtcagaaaagagaaagaa	17	6	14	4	1	2	4	1	0	1	4	2	7	2	5	1	4	0	0	1	4	6	1			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr6:106555167G>A	uc003prd.2	+	6	2518	c.2284G>A	c.(2284-2286)Gtg>Atg	p.V762M	PRDM1_uc003pre.3_Missense_Mutation_p.V628M	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	762					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AATTCTGGCCGTGGTCAGAAA	0.478			"D, N, Mis, F, S"		DLBCL								25	57					0	0	1	0	0	A	106555167	G	A	106555167	3	1	163	1	0	0	0	0	1	0	0	0	12450	1145	40	1	2323	1	PRDM1	6	106555167	Missense_Mutation	SNP	G	TCGA-HT-7470-01A-12D-2086-08	22715311	106555167	64559900	24	7294											
MICAL1	64780	broad.mit.edu	37	chr6	109770958	109770958	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcatgttttctggggatgTctgtgacagaagctggtaca	9	13	13	6	0	2	2	0	1	2	1	2	3	2	3	0	3	3	4	0	3	2	3			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr6:109770958T>C	uc011eaq.2	-	9	1684	c.1393A>G	c.(1393-1395)Aca>Gca	p.T465A	MICAL1_uc003ptj.3_Missense_Mutation_p.T446A|MICAL1_uc003ptk.3_Missense_Mutation_p.T446A|MICAL1_uc010kdr.3_Missense_Mutation_p.T360A	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 1 (MICAL1), transcript variant 1, mRNA.	446					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TCTGGGGATGTCTGTGACAGA	0.607													15	127					0	0	1	0	0	C	109770958	T	C	109770958	3	2	163	1	0	0	0	0	1	0	0	0	9569	1667	58	3	1931	3	MICAL1	6	109770958	Missense_Mutation	SNP	T	TCGA-HT-7470-01A-12D-2086-08	3215791	109770958	61344109	25	7295											
TULP4	56995	broad.mit.edu	37	chr6	158850782	158850782	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaggtgagtgatttcacGtggagccatgatggaactca	11	9	12	9	1	2	3	2	3	0	0	2	5	2	5	2	3	2	0	2	3	2	1	rs142500811		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr6:158850782G>A	uc003qrf.3	+	2	1753	c.396G>A	c.(394-396)acG>acA	p.T132T	TULP4_uc011efo.2_Silent_p.T132T|TULP4_uc003qrg.3_Silent_p.T132T	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	132					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GTGATTTCACGTGGAGCCATG	0.408													7	196					0	0	1	0	0	A	158850782	G	A	158850782	2	1	163	1	0	0	0	0	0	0	0	1	16773	1132	40	1		1	TULP4	6	158850782	Silent	SNP	G	TCGA-HT-7470-01A-12D-2086-08	49079824	158850782	12264285	26	7296											
SRPK2	6733	broad.mit.edu	37	chr7	104782648	104782648	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaattttatgtcgtccattTggcaattcaccattgaattg	10	16	8	7	1	1	1	1	1	0	0	3	2	2	2	2	2	0	1	2	2	4	6	rs56003957	byFrequency	TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr7:104782648T>C	uc003vct.3	-	9	1504	c.1317A>G	c.(1315-1317)ccA>ccG	p.P439P	SRPK2_uc003vcu.3_Silent_p.P439P|SRPK2_uc003vcv.3_Silent_p.P450P|SRPK2_uc003vcw.1_Silent_p.P439P	NM_182691	NP_872633	P78362	SRPK2_HUMAN	Homo sapiens SRSF protein kinase 2 (SRPK2), transcript variant 2, mRNA.	439	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						GTCGTCCATTTGGCAATTCAC	0.443													22	118					0	0	1	0	0	C	104782648	T	C	104782648	2	2	163	1	0	0	0	0	0	0	0	1	15159	1799	63	3		3	SRPK2	7	104782648	Silent	SNP	T	TCGA-HT-7470-01A-12D-2086-08		104782648	54356015	27	7297											
FOXB2	442425	broad.mit.edu	37	chr9	79635448	79635448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggagggctgcccttggcgtCcgtcatgcaccacctgggct	4	9	14	14	2	1	0	1	0	0	0	2	1	2	1	4	4	2	3	4	4	0	1			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr9:79635448C>T	uc004ako.1	+	0	878	c.878C>T	c.(877-879)tCc>tTc	p.S293F		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	Homo sapiens forkhead box B2 (FOXB2), mRNA.	293					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						CCCTTGGCGTCCGTCATGCAC	0.662													15	51					0	0	1	0	0	T	79635448	C	T	79635448	3	4	163	1	0	0	0	0	1	0	0	0	5993	855	30	3	880	3	FOXB2	9	79635448	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08		79635448	61577983	28	7298											
NOTCH1	4851	broad.mit.edu	37	chr9	139411837	139411837	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgcagtgcacaccctcgtagCctgtggggtggggcaacagt	7	7	15	12	2	0	0	0	0	0	0	1	0	0	0	2	4	3	4	2	4	2	1			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr9:139411837C>A	uc004chz.3	-	9	1442	c.1442_splice	c.e9-1	p.G481_splice		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	481	EGF-like 12; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACCCTCGTAGCCTGTGGGGTG	0.647			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			4	10					1.23904e-05	1.32164e-05	1	1	0	A	139411837	C	A	139411837	5	1	163	1	0	0	0	0	0	0	1	0	10547	753	26	5	6329	5	NOTCH1	9	139411837	Splice_Site	SNP	C	TCGA-HT-7470-01A-12D-2086-08	59776389	139411837	1801594	29	7299											
CUBN	8029	broad.mit.edu	37	chr10	16990512	16990512	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaccgtggtgtggaaacccCcagcactgatgctagaatca	11	8	11	11	1	1	3	1	2	0	1	1	4	1	4	3	2	3	2	3	2	3	1			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr10:16990512C>G	uc001ioo.3	-	34	5226	c.5174G>C	c.(5173-5175)gGg>gCg	p.G1725A		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	1725	CUB 11.				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	p.G1725R(1)		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)	GTGGAAACCCCCAGCACTGAT	0.512													11	49					0	0	1	0	0	G	16990512	C	G	16990512	3	3	163	1	0	0	0	0	1	0	0	0	4051	623	22	5	5829	5	CUBN	10	16990512	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08		16990512	118544235	30	7300											
ANO9	338440	broad.mit.edu	37	chr11	429780	429780	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagagagccatgaagatggcGaacaccaccgtgccatcatt	13	6	10	12	2	1	3	1	1	0	2	1	5	1	3	4	1	3	0	4	1	2	1			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:429780G>A	uc001lpi.2	-	9	895	c.810C>T	c.(808-810)ttC>ttT	p.F270F	ANO9_uc001lph.2_5'UTR|ANO9_uc010qvv.1_Silent_p.F126F	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	Homo sapiens anoctamin 9 (ANO9), mRNA.	270						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TGAAGATGGCGAACACCACCG	0.662													3	32					0	0	1	0	0	A	429780	G	A	429780	2	1	163	1	0	0	0	0	0	0	0	1	704	1049	37	2		2	ANO9	11	429780	Silent	SNP	G	TCGA-HT-7470-01A-12D-2086-08		429780	134576736	31	7301											
OR52E8	390079	broad.mit.edu	37	chr11	5878264	5878264	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcatacaggatcctgacAtaggagagaataataaggat	18	7	10	6	0	0	2	0	1	0	1	1	6	1	5	1	3	2	1	1	3	5	4			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:5878264A>C	uc010qzr.2	-	0	669	c.669T>G	c.(667-669)taT>taG	p.Y223*	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGATCCTGACATAGGAGAGAA	0.463													10	25					0	0	1	0	0	C	5878264	A	C	5878264	4	2	163	1	0	0	0	0	0	1	0	0	11118	224	8	5	286	5	OR52E8	11	5878264	Nonsense_Mutation	SNP	A	TCGA-HT-7470-01A-12D-2086-08	5448484	5878264	129128252	32	7302											
LRP4	4038	broad.mit.edu	37	chr11	46893136	46893136	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctgccgcagtttcccattGaggtcagcactctcgatccg	7	10	9	15	3	2	1	1	1	1	0	5	2	4	1	4	1	2	3	4	1	0	2			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:46893136G>A	uc001ndn.4	-	30	4875	c.4632C>T	c.(4630-4632)ctC>ctT	p.L1544L	LOC100507401_uc001ndl.3_Intron	NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	1544					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GTTTCCCATTGAGGTCAGCAC	0.557													10	13					0	0	1	0	0	A	46893136	G	A	46893136	2	1	163	1	0	0	0	0	0	0	0	1	8959	1277	45	3		3	LRP4	11	46893136	Silent	SNP	G	TCGA-HT-7470-01A-12D-2086-08	41014872	46893136	88113380	33	7303											
OR4X2	119764	broad.mit.edu	37	chr11	48266883	48266883	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccaaactcatctcagaTctgctggctgaaaggaaagt	12	8	9	12	0	3	2	2	1	2	1	4	3	3	3	2	2	2	2	2	2	3	0			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:48266883T>C	uc001ngs.1	+	0	228	c.228T>C	c.(226-228)gaT>gaC	p.D76D		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TCATCTCAGATCTGCTGGCTG	0.512													4	123					0	0	1	0	0	C	48266883	T	C	48266883	2	2	163	1	0	0	0	0	0	0	0	1	11085	1432	50	3		3	OR4X2	11	48266883	Silent	SNP	T	TCGA-HT-7470-01A-12D-2086-08	1373747	48266883	86739633	34	7304											
ZW10	9183	broad.mit.edu	37	chr11	113614641	113614641	+	Frame_Shift_Del	DEL	T	T	-																															aggaatgttggtccaatgtaTtttcaggctctaaattcatc																										TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:113614641delT	uc001poe.3	-	9	1491	c.1394delA	c.(1393-1395)aatfs	p.N465fs	ZW10_uc009yyv.3_Non-coding_Transcript	NM_004724	NP_004715	O43264	ZW10_HUMAN	Homo sapiens ZW10, kinetochore associated, homolog (Drosophila) (ZW10), mRNA.	465					ER to Golgi vesicle-mediated transport|cell division|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		GTCCAATGTATTTTCAGGCTC	0.418													64	154	---	---	---	---						-	113614641	T	-	113614641	7	5	163	1	0	1	0	1	0	0	0	0	18244	1493	52	0	973	0	ZW10	11	113614641	Frame_Shift_Del	DEL	T	TCGA-HT-7470-01A-12D-2086-08	65347758	113614641	21391875	35	7305											
HTR3B	9177	broad.mit.edu	37	chr11	113803068	113803068	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtgaactcatctgggacCattgagaactataagcccat	13	11	8	9	0	2	2	1	2	1	1	2	4	2	3	2	1	3	0	2	1	5	4			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:113803068C>A	uc001pok.3	+	4	564	c.426C>A	c.(424-426)acC>acA	p.T142T	HTR3B_uc001pol.3_Silent_p.T131T	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	142					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		CATCTGGGACCATTGAGAACT	0.433													15	151					2.35188e-11	2.59518e-11	1	1	0	A	113803068	C	A	113803068	2	1	163	1	0	0	0	0	0	0	0	1	7445	581	21	5		5	HTR3B	11	113803068	Silent	SNP	C	TCGA-HT-7470-01A-12D-2086-08	188427	113803068	21203448	36	7306											
TECTA	7007	broad.mit.edu	37	chr11	121000839	121000839	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcaatgagtcagagctcTgtgactctgtggcccggtat	7	10	15	9	1	3	3	1	2	2	1	3	3	3	3	1	4	1	3	1	4	2	1			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:121000839T>C	uc010rzo.2	+	8	2860	c.2860T>C	c.(2860-2862)Tgt>Cgt	p.C954R		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	954					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GTCAGAGCTCTGTGACTCTGT	0.602													4	108					0	0	1	0	0	C	121000839	T	C	121000839	3	2	163	1	0	0	0	0	1	0	0	0	15744	1580	55	4	2894	4	TECTA	11	121000839	Missense_Mutation	SNP	T	TCGA-HT-7470-01A-12D-2086-08	7197771	121000839	14005677	37	7307											
SNX19	399979	broad.mit.edu	37	chr11	130750571	130750571	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttctcagcagccagtttctGctcttgggtccttacgggcc	4	14	10	13	1	3	0	1	0	3	0	5	0	4	0	3	2	4	3	3	2	1	4			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:130750571G>A	uc001qgk.4	-	8	3252	c.2704C>T	c.(2704-2706)Cag>Tag	p.Q902*	SNX19_uc010sce.2_Nonsense_Mutation_p.Q282*|SNX19_uc010scf.2_Nonsense_Mutation_p.Q345*|SNX19_uc010scg.2_Nonsense_Mutation_p.Q139*	NM_014758	NP_055573	Q92543	SNX19_HUMAN	Homo sapiens sorting nexin 19 (SNX19), mRNA.	902					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GCCAGTTTCTGCTCTTGGGTC	0.517													45	232					0	0	1	0	0	A	130750571	G	A	130750571	4	1	163	1	0	0	0	0	0	1	0	0	14890	1328	46	3	286	3	SNX19	11	130750571	Nonsense_Mutation	SNP	G	TCGA-HT-7470-01A-12D-2086-08	9749732	130750571	4255945	38	7308											
HMGA2	8091	broad.mit.edu	37	chr12	66221789	66221789	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcacaattaggaaccaacCggtgagccctctcctaagag	12	7	8	14	1	2	2	1	1	1	1	3	3	2	3	5	2	3	0	5	2	5	2			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr12:66221789C>T	uc001ssu.1	+	1	931	c.120C>T	c.(118-120)acC>acT	p.T40T	RPSAP52_uc001sso.3_5'Flank|HMGA2_uc001ssw.1_Silent_p.T40T|HMGA2_uc001ssx.3_Silent_p.T40T|HMGA2_uc001ssp.1_Non-coding_Transcript|HMGA2_uc010ssv.1_Non-coding_Transcript|HMGA2_uc001sss.1_Non-coding_Transcript|HMGA2_uc001sst.1_Silent_p.T40T|HMGA2_uc001ssv.3_Silent_p.T40T	NM_003483	NP_003474	P52926	HMGA2_HUMAN	Homo sapiens high mobility group AT-hook 2 (HMGA2), transcript variant 1, mRNA.	40					cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding		HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	lung(2)	2	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		AGGAACCAACCGGTGAGCCCT	0.448			T	" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"	"lipoma, leiomyoma, pleiomorphic salivary gland adenoma"								4	59					0	0	1	0	0	T	66221789	C	T	66221789	2	4	163	1	0	0	0	0	0	0	0	1	7224	639	23	2		2	HMGA2	12	66221789	Silent	SNP	C	TCGA-HT-7470-01A-12D-2086-08		66221789	67630106	39	7309											
PTPRB	5787	broad.mit.edu	37	chr12	70954486	70954486	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgactttattgctgagaTctccactgtgagttaccacc	8	14	8	11	0	1	3	0	3	1	1	2	4	1	3	3	0	2	2	3	0	2	4			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr12:70954486T>C	uc001swb.4	-	14	3773	c.3743A>G	c.(3742-3744)gAt>gGt	p.D1248G	PTPRB_uc010sto.2_Missense_Mutation_p.D1158G|PTPRB_uc010stp.2_Missense_Mutation_p.D1158G|PTPRB_uc001swc.4_Missense_Mutation_p.D1466G|PTPRB_uc001swa.4_Missense_Mutation_p.D1378G|PTPRB_uc001swd.4_Missense_Mutation_p.D1465G|PTPRB_uc009zrr.2_Missense_Mutation_p.D1345G	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1248	Fibronectin type-III 14.				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)			ATTGCTGAGATCTCCACTGTG	0.512													9	50					0	0	1	0	0	C	70954486	T	C	70954486	3	2	163	1	0	0	0	0	1	0	0	0	12796	1435	50	3	2322	3	PTPRB	12	70954486	Missense_Mutation	SNP	T	TCGA-HT-7470-01A-12D-2086-08	4732697	70954486	62897409	40	7310											
SHF	90525	broad.mit.edu	37	chr15	45470424	45470424	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattttcagggaccttctcTggggctcctgaagctcctgc	5	13	10	13	0	3	1	2	1	1	0	6	2	5	2	3	3	2	2	3	3	1	3			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr15:45470424T>C	uc001zuy.3	-	2	879	c.384A>G	c.(382-384)ccA>ccG	p.P128P	SHF_uc010uen.2_5'UTR|SHF_uc010ueo.2_5'UTR|SHF_uc010ues.1_5'UTR|SHF_uc010uet.1_5'UTR|SHF_uc010ueu.2_5'UTR	NM_138356	NP_612365	B3KTY1	B3KTY1_HUMAN	Homo sapiens Src homology 2 domain containing F (SHF), mRNA.	128										endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		GGACCTTCTCTGGGGCTCCTG	0.567													16	34					0	0	1	0	0	C	45470424	T	C	45470424	2	2	163	1	0	0	0	0	0	0	0	1	14277	1567	55	4		4	SHF	15	45470424	Silent	SNP	T	TCGA-HT-7470-01A-12D-2086-08		45470424	57060968	41	7311											
TMC3	342125	broad.mit.edu	37	chr15	81625071	81625071	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggtgaccctcaaaatcttCattccacgacttgtagtgca	12	11	7	11	1	3	1	2	1	1	0	4	2	4	1	2	1	1	2	2	1	4	4			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr15:81625071C>T	uc021ssk.1	-	21	2992	c.2992G>A	c.(2992-2994)Gaa>Aaa	p.E998K	TMC3_uc021ssj.1_3'UTR|TMC3_uc010blr.1_Non-coding_Transcript	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	998						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TCAAAATCTTCATTCCACGAC	0.562													7	25					0	0	1	0	0	T	81625071	C	T	81625071	3	4	163	1	0	0	0	0	1	0	0	0	15983	835	29	3	314	3	TMC3	15	81625071	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	36154647	81625071	20906321	42	7312											
RHBDF1	64285	broad.mit.edu	37	chr16	111434	111434	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcacgtacttgacgttctcGtagaccccgcggttccgcag	6	10	11	14	6	1	2	0	1	1	1	3	2	2	2	3	1	2	6	3	1	2	5			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr16:111434G>A	uc002cfl.4	-	9	1487	c.1344C>T	c.(1342-1344)taC>taT	p.Y448Y	RHBDF1_uc010uty.2_Silent_p.Y471Y|RHBDF1_uc010utz.2_Silent_p.Y448Y	NM_022450	NP_071895	Q96CC6	RHDF1_HUMAN	Homo sapiens rhomboid 5 homolog 1 (Drosophila) (RHBDF1), mRNA.	448					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				TGACGTTCTCGTAGACCCCGC	0.716													4	40					0	0	1	0	0	A	111434	G	A	111434	2	1	163	1	0	0	0	0	0	0	0	1	13319	1140	40	1		1	RHBDF1	16	111434	Silent	SNP	G	TCGA-HT-7470-01A-12D-2086-08		111434	90243319	43	7313											
PRSS22	64063	broad.mit.edu	37	chr16	2906139	2906139	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgagcagagaacctgcGcagtggtgggtcccattctt	7	10	14	10	1	1	2	0	1	1	1	2	3	2	2	2	3	3	2	2	3	1	2			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr16:2906139G>A	uc002cry.1	-	2	291	c.225C>T	c.(223-225)tgC>tgT	p.C75C		NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN	Homo sapiens protease, serine, 22 (PRSS22), mRNA.	75	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						GAGAACCTGCGCAGTGGTGGG	0.617													14	81					0	0	1	0	0	A	2906139	G	A	2906139	2	1	163	1	0	0	0	0	0	0	0	1	12619	1079	38	1		1	PRSS22	16	2906139	Silent	SNP	G	TCGA-HT-7470-01A-12D-2086-08	2794705	2906139	87448614	44	7314											
ERCC4	2072	broad.mit.edu	37	chr16	14031642	14031642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtttactttcttatatacGgaggttcaactgaggaacaa	12	13	10	6	1	2	1	1	1	1	0	2	3	2	3	0	4	4	2	0	4	7	7			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr16:14031642G>A	uc002dce.2	+	8	1840	c.1831G>A	c.(1831-1833)Gga>Aga	p.G611R	ERCC4_uc010uyz.1_Missense_Mutation_p.G161R	NM_005236	NP_005227	Q92889	XPF_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.	611			Missing (in XP-F).		double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						TCTTATATACGGAGGTTCAAC	0.363			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				18	45					0	0	1	0	0	A	14031642	G	A	14031642	3	1	163	1	0	0	0	0	1	0	0	0	5215	1117	39	2	1865	2	ERCC4	16	14031642	Missense_Mutation	SNP	G	TCGA-HT-7470-01A-12D-2086-08	11125503	14031642	76323111	45	7315											
ANKRD11	29123	broad.mit.edu	37	chr16	89348104	89348104	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttgagcttggggtctcCggaccggtgcctcagcttct	3	12	12	14	2	3	1	1	1	2	0	5	2	4	2	4	4	3	2	4	4	0	3			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr16:89348104C>T	uc002fmx.1	-	8	5307	c.4846G>A	c.(4846-4848)Gga>Aga	p.G1616R	ANKRD11_uc002fmy.1_Missense_Mutation_p.G1616R|ANKRD11_uc002fnc.1_Missense_Mutation_p.G1616R|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.G1573R	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1616	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTGGGGTCTCCGGACCGGTGC	0.607													21	87					0	0	1	0	0	T	89348104	C	T	89348104	3	4	163	1	0	0	0	0	1	0	0	0	639	661	23	2	3165	2	ANKRD11	16	89348104	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	75316462	89348104	1006649	46	7316											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			27	11					0	0	1	0	0	A	7577121	G	A	7577121	3	1	163	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-7470-01A-12D-2086-08		7577121	73618089	47	7317											
MYO19	80179	broad.mit.edu	37	chr17	34866651	34866651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctcgggcgcagggcttcCggaacacctgctgctgtctg	4	8	15	14	4	1	0	0	0	1	0	3	1	2	1	2	4	3	5	2	4	1	1			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr17:34866651C>T	uc010wcy.2	-	13	2083	c.1091G>A	c.(1090-1092)cGg>cAg	p.R364Q	MYO19_uc010cuu.3_Non-coding_Transcript|MYO19_uc002hmw.3_Missense_Mutation_p.R364Q|MYO19_uc010wcz.1_Non-coding_Transcript	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Homo sapiens myosin XIX (MYO19), transcript variant 2, mRNA.	364	Myosin head-like.					mitochondrial outer membrane|myosin complex	ATP binding|actin binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCAGGGCTTCCGGAACACCTG	0.627													6	10					0	0	1	0	0	T	34866651	C	T	34866651	3	4	163	1	0	0	0	0	1	0	0	0	10067	652	23	2	1877	2	MYO19	17	34866651	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	27289530	34866651	46328559	48	7318											
ZNF709	163051	broad.mit.edu	37	chr19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggtttctctccagtgtgaGttctttcatgcattcgaaag	7	15	11	8	1	3	1	1	1	2	0	6	2	4	1	1	2	1	3	1	2	1	4			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr19:12575498G>A	uc002mtv.4	-	3	1399	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	ZNF709_uc002mtw.4_Missense_Mutation_p.T381I|ZNF709_uc002mtx.4_Missense_Mutation_p.T413I	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T413I(2)|p.R412I(1)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418													6	166					0	0	1	0	0	A	12575498	G	A	12575498	3	1	163	1	0	0	0	0	1	0	0	0	18110	1029	36	3	691	3	ZNF709	19	12575498	Missense_Mutation	SNP	G	TCGA-HT-7470-01A-12D-2086-08		12575498	46553485	49	7319											
GCDH	2639	broad.mit.edu	37	chr19	13006897	13006897	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagagcccactacaactcAtccaacaagagctacaccct	15	5	4	17	0	1	2	1	0	0	2	2	2	2	2	4	0	6	1	4	0	5	2			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr19:13006897A>G	uc002mvq.3	+	6	674	c.597A>G	c.(595-597)tcA>tcG	p.S199S	GCDH_uc010xms.2_Silent_p.S166S|GCDH_uc002mvp.3_Silent_p.S199S|GCDH_uc010xmt.2_Missense_Mutation_p.H45R|GCDH_uc010xmu.2_Silent_p.S155S	NM_000159	NP_000150	Q92947	GCDH_HUMAN	Homo sapiens glutaryl-CoA dehydrogenase (GCDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	199					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						ACTACAACTCATCCAACAAGA	0.612													4	115					0	0	1	0	0	G	13006897	A	G	13006897	2	3	163	1	0	0	0	0	0	0	0	1	6287	204	8	3		3	GCDH	19	13006897	Silent	SNP	A	TCGA-HT-7470-01A-12D-2086-08	431399	13006897	46122086	50	7320											
FCGBP	8857	broad.mit.edu	37	chr19	40357728	40357728	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggaacaggaacagcgctcGctgcagtctgaggtcagcag	11	5	15	10	2	2	1	1	1	1	0	3	4	2	3	0	3	5	4	0	3	2	0			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr19:40357728G>A	uc002omp.4	-	33	15593	c.15585C>T	c.(15583-15585)agC>agT	p.S5195S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5195	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AACAGCGCTCGCTGCAGTCTG	0.587													11	33					0	0	1	0	0	A	40357728	G	A	40357728	2	1	163	1	0	0	0	0	0	0	0	1	5778	1078	38	1		1	FCGBP	19	40357728	Silent	SNP	G	TCGA-HT-7470-01A-12D-2086-08	27350831	40357728	18771255	51	7321											
PAFAH1B3	5050	broad.mit.edu	37	chr19	42804340	42804340	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caccttgggccggatgtgttCcagctccccattctccagcc	5	10	9	17	1	1	0	0	0	1	0	4	1	3	1	7	2	2	2	7	2	0	3			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr19:42804340C>G	uc002otg.2	-	2	603	c.268G>C	c.(268-270)Gaa>Caa	p.E90Q	PAFAH1B3_uc010xwi.1_Missense_Mutation_p.E90Q|PAFAH1B3_uc010xwj.1_Missense_Mutation_p.E90Q|PRR19_uc002oth.1_5'Flank|PRR19_uc002oti.3_5'Flank	NM_002573	NP_002564	Q15102	PA1B3_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa) (PAFAH1B3), transcript variant 2, mRNA.	90					lipid catabolic process|nervous system development	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|protein binding			breast(1)|large_intestine(2)|ovary(1)	4		Prostate(69;0.0704)				CGGATGTGTTCCAGCTCCCCA	0.562													4	76					0	0	1	0	0	G	42804340	C	G	42804340	3	3	163	1	0	0	0	0	1	0	0	0	11386	864	30	5	439	5	PAFAH1B3	19	42804340	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	2446612	42804340	16324643	52	7322											
PPP1R12C	54776	broad.mit.edu	37	chr19	55605714	55605714	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccagcccaccccacaccTgtgtggacctccgagactgg	8	5	9	19	1	0	1	0	0	0	1	1	3	1	2	8	2	1	0	8	2	0	0			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr19:55605714T>G	uc002qix.3	-	13	1699	c.1683_splice	c.e13+1	p.Q561_splice	PPP1R12C_uc010yfs.2_Splice_Site_p.Q487_splice|PPP1R12C_uc002qiy.3_Splice_Site_p.Q560_splice	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12C (PPP1R12C), mRNA.	561						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		ACCCCACACCTGTGTGGACCT	0.657													20	102					0	0	1	0	0	G	55605714	T	G	55605714	5	3	163	1	0	0	0	0	0	0	1	0	12356	1594	55	5	706	5	PPP1R12C	19	55605714	Splice_Site	SNP	T	TCGA-HT-7470-01A-12D-2086-08	12801374	55605714	3523269	53	7323											
TMC2	117532	broad.mit.edu	37	chr20	2592978	2592978	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttgctgggagacagctGtgggcattgtgagtagttac	7	13	15	6	0	1	2	0	1	1	1	1	3	1	2	0	2	3	6	0	2	2	5	rs138720906		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr20:2592978G>C	uc002wgf.1	+	12	1750	c.1735G>C	c.(1735-1737)Gtg>Ctg	p.V579L	TMC2_uc002wgg.1_Missense_Mutation_p.V563L|TMC2_uc010zpw.1_Missense_Mutation_p.V411L|TMC2_uc010zpx.1_Missense_Mutation_p.V410L	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	579						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GGAGACAGCTGTGGGCATTGT	0.488													8	126					0	0	1	0	0	C	2592978	G	C	2592978	3	2	163	1	0	0	0	0	1	0	0	0	15982	1377	48	5	1785	5	TMC2	20	2592978	Missense_Mutation	SNP	G	TCGA-HT-7470-01A-12D-2086-08		2592978	60432542	54	7324											
LAMA5	3911	broad.mit.edu	37	chr20	60886842	60886843	+	Splice_Site	INS	-	-	G																															tcgacatacagccagactctINSggggggcgggaggccggagg																										TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr20:60886842_60886843insG	uc002ycq.3	-	71	9703	c.9636_splice	c.e71-1	p.G3212_splice	LAMA5_uc021wfw.1_Splice_Site_p.G3212_splice	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	3212	Laminin G-like 3.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCCAGACTCTGGGGGGCGGGA	0.698													5	6	---	---	---	---						G	60886843	-	G	60886842	8	5	163	1	0	1	1	0	0	0	1	0	8609	1594	55	0	1493	0	LAMA5	20	60886842	Splice_Site	INS	-	TCGA-HT-7470-01A-12D-2086-08	58293864	60886842	2138678	55	7325											
PARVB	29780	broad.mit.edu	37	chr22	44532367	44532367	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcctgctgcattccagcCacatctcggaggagctgacc	9	7	11	14	1	1	1	0	1	1	0	3	3	2	3	4	3	4	3	4	3	1	1			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr22:44532367C>G	uc003bem.3	+	7	890	c.760C>G	c.(760-762)Cac>Gac	p.H254D	PARVB_uc003ben.3_Missense_Mutation_p.H221D|PARVB_uc010gzn.3_Missense_Mutation_p.H169D|PARVB_uc003beo.3_Missense_Mutation_p.H184D	NM_001003828	NP_001003828	Q9HBI1	PARVB_HUMAN	Homo sapiens parvin, beta (PARVB), transcript variant 1, mRNA.	221	CH 2.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GCATTCCAGCCACATCTCGGA	0.557													4	122					0	0	1	0	0	G	44532367	C	G	44532367	3	3	163	1	0	0	0	0	1	0	0	0	11469	594	21	5	906	5	PARVB	22	44532367	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08		44532367	6772199	56	7326											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	6	9	9	17	2	2	0	0	0	2	0	6	2	4	2	5	2	2	0	5	2	2	1	rs145580328	byFrequency	TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chrX:37028425A>G	uc004ddl.2	+	0	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	648								p.N648D(11)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													3	72					0	0	1	0	0	G	37028425	A	G	37028425	3	3	163	1	0	0	0	0	1	0	0	0	5571	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-HT-7470-01A-12D-2086-08		37028425	118242135	57	7327											
AKAP4	8852	broad.mit.edu	37	chrX	49958837	49958837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctgctgtcatttctagaCgtaggttttgaggtctgttc	6	17	11	7	1	3	2	1	1	2	1	4	2	3	2	0	2	2	5	0	2	3	7			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chrX:49958837C>T	uc004dow.1	-	4	651	c.527G>A	c.(526-528)cGt>cAt	p.R176H	AKAP4_uc004dou.1_Missense_Mutation_p.R167H|AKAP4_uc004dov.1_Missense_Mutation_p.R167H|AKAP4_uc010njp.1_5'UTR	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	176					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CATTTCTAGACGTAGGTTTTG	0.443													44	51					0	0	1	0	0	T	49958837	C	T	49958837	3	4	163	1	0	0	0	0	1	0	0	0	453	536	19	1	2045	1	AKAP4	23	49958837	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	12930412	49958837	105311723	58	7328											
ATRX	546	broad.mit.edu	37	chrX	76874329	76874330	+	Frame_Shift_Ins	INS	-	-	T																															agcacgttttttcatcactcINStgacatctaccatggtagaa																										TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chrX:76874329_76874330insT	uc004ecp.4	-	20	5624_5625	c.5392_5393insA	c.(5392-5394)agafs	p.R1798fs	ATRX_uc004ecq.4_Frame_Shift_Ins_p.R1760fs|ATRX_uc004eco.4_Frame_Shift_Ins_p.R1583fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1798					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTTCATCACTCTGACATCTACC	0.322			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						82	51	---	---	---	---						T	76874330	-	T	76874329	7	5	163	1	0	1	1	0	0	0	0	0	1208	913	32	0	2145	0	ATRX	23	76874329	Frame_Shift_Ins	INS	-	TCGA-HT-7470-01A-12D-2086-08	26915492	76874329	78396231	59	7329											
FUBP1	8880	broad.mit.edu	37	chr1	78430773	78430773	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagctgtttaatagtttCtcccccttttccaatgacta	9	16	5	11	0	1	2	0	2	1	0	3	2	2	2	3	0	1	3	3	0	5	7			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr1:78430773C>A	uc001dii.3	-	7	705	c.616G>T	c.(616-618)Gaa>Taa	p.E206*	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Nonsense_Mutation_p.E227*	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	206	KH 2.				transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TTAATAGTTTCTCCCCCTTTT	0.393			"F, N"		oligodendroglioma								105	29					3.41453e-61	3.74497e-61	1	1	0	A	78430773	C	A	78430773	4	1	164	1	0	0	0	0	0	1	0	0	6092	922	32	5	1370	5	FUBP1	1	78430773	Nonsense_Mutation	SNP	C	TCGA-HT-7471-01A-11D-2253-08		78430773	170819848	1	7330											
KIAA1324	57535	broad.mit.edu	37	chr1	109707134	109707134	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttccagccttctcctgcaaCgccggggagtttctggatat	6	13	10	12	2	2	0	0	0	2	0	4	2	3	2	4	3	3	2	4	3	2	4	rs144842352		TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr1:109707134C>T	uc021orb.1	+	2	509	c.288C>T	c.(286-288)aaC>aaT	p.N96N	KIAA1324_uc009wex.2_Silent_p.N96N|KIAA1324_uc010ovg.2_5'UTR|KIAA1324_uc009wey.3_Silent_p.N96N	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	Homo sapiens KIAA1324 (KIAA1324), mRNA.	96					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		TCTCCTGCAACGCCGGGGAGT	0.592													76	18					0	0	1	0	0	T	109707134	C	T	109707134	2	4	164	1	0	0	0	0	0	0	0	1	8223	535	19	1		1	KIAA1324	1	109707134	Silent	SNP	C	TCGA-HT-7471-01A-11D-2253-08	31276361	109707134	139543487	2	7331											
ADCY10	55811	broad.mit.edu	37	chr1	167870912	167870912	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcttacctatcttgactcGgatgtctaggccttcttccc	6	15	7	13	1	3	1	0	1	3	0	5	2	4	2	3	2	2	1	3	2	3	6			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr1:167870912G>A	uc001ger.3	-	4	722	c.424C>T	c.(424-426)Cga>Tga	p.R142*	ADCY10_uc010plj.2_Intron|ADCY10_uc009wvk.3_Nonsense_Mutation_p.R50*|ADCY10_uc009wvl.3_Nonsense_Mutation_p.R141*|ADCY10_uc009wvm.2_Intron	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	142	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ATCTTGACTCGGATGTCTAGG	0.463													76	84					0	0	1	0	0	A	167870912	G	A	167870912	4	1	164	1	0	0	0	0	0	1	0	0	293	1124	39	2	4524	2	ADCY10	1	167870912	Nonsense_Mutation	SNP	G	TCGA-HT-7471-01A-11D-2253-08	58163778	167870912	81379709	3	7332											
CACNA1E	777	broad.mit.edu	37	chr1	181765891	181765891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctctcctgatgtctcccGctgcaattcagaagagcgag	8	11	9	13	2	4	3	1	1	3	2	7	4	4	3	2	0	2	2	2	0	2	1			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr1:181765891G>A	uc009wxt.3	+	46	6491	c.6296G>A	c.(6295-6297)cGc>cAc	p.R2099H	CACNA1E_uc001gow.3_Missense_Mutation_p.R2056H|CACNA1E_uc009wxs.3_Missense_Mutation_p.R2037H	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2099					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GATGTCTCCCGCTGCAATTCA	0.602													3	15					0	0	1	0	0	A	181765891	G	A	181765891	3	1	164	1	0	0	0	0	1	0	0	0	2542	1087	38	1	6349	1	CACNA1E	1	181765891	Missense_Mutation	SNP	G	TCGA-HT-7471-01A-11D-2253-08	13894979	181765891	67484730	4	7333											
FMN2	56776	broad.mit.edu	37	chr1	240371421	240371421	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctccgccccctctaccCggagtgggcatacctcctcc	4	7	7	23	2	1	0	0	0	1	0	4	1	4	1	9	2	2	1	9	2	2	2			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr1:240371421C>T	uc010pye.2	+	5	3546	c.3321C>T	c.(3319-3321)ccC>ccT	p.P1107P	FMN2_uc010pyd.2_Silent_p.P1103P	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1103	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.P1246P(2)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCTCTACCCGGAGTGGGCA	0.736													5	182					0	0	1	0	0	T	240371421	C	T	240371421	2	4	164	1	0	0	0	0	0	0	0	1	5950	639	23	2		2	FMN2	1	240371421	Silent	SNP	C	TCGA-HT-7471-01A-11D-2253-08	58605530	240371421	8879200	5	7334											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								42	54					0	0	1	0	0	T	209113112	C	T	209113112	3	4	164	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7471-01A-11D-2253-08		209113112	34086261	6	7335											
STAB1	23166	broad.mit.edu	37	chr3	52552602	52552602	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccatcttcgtgccgcaCgcagatctaatgagcaacct	10	10	7	14	3	3	2	1	1	2	1	4	2	3	2	3	0	3	3	3	0	2	3			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr3:52552602C>T	uc003dej.3	+	46	4934	c.4860C>T	c.(4858-4860)caC>caT	p.H1620H	STAB1_uc003dek.1_5'Flank|STAB1_uc003del.3_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1620	FAS1 5.				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)		TCGTGCCGCACGCAGATCTAA	0.627													4	7					0	0	1	0	0	T	52552602	C	T	52552602	2	4	164	1	0	0	0	0	0	0	0	1	15236	535	19	1		1	STAB1	3	52552602	Silent	SNP	C	TCGA-HT-7471-01A-11D-2253-08		52552602	145469828	7	7336											
SLC6A3	6531	broad.mit.edu	37	chr5	1409836	1409836	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagccggcgatggtacgtacGttggtgacgcagaacaggga	11	6	16	8	5	0	2	0	1	0	1	0	4	0	3	1	4	4	4	1	4	4	3	rs2270912	byFrequency	TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr5:1409836G>A	uc003jck.3	-	10	1524	c.1398_splice	c.e10+1	p.N466_splice		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	466					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TGGTACGTACGTTGGTGACGC	0.617													34	44					0	0	1	0	0	A	1409836	G	A	1409836	5	1	164	1	0	0	0	0	0	0	1	0	14685	1159	40	1	488	1	SLC6A3	5	1409836	Splice_Site	SNP	G	TCGA-HT-7471-01A-11D-2253-08		1409836	179505424	8	7337											
TTYH3	80727	broad.mit.edu	37	chr7	2698612	2698612	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagaacccccgctgtgagaAcaccccactcattgggcgcg	9	5	10	17	3	1	2	1	1	0	2	1	3	1	2	5	1	2	1	5	1	2	1			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr7:2698612A>G	uc003smp.3	+	12	1650	c.1463A>G	c.(1462-1464)aAc>aGc	p.N488S	TTYH3_uc010ksn.3_Missense_Mutation_p.N208S|TTYH3_uc003smq.3_Missense_Mutation_p.N317S	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN	Homo sapiens tweety homolog 3 (Drosophila) (TTYH3), mRNA.	488						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CGCTGTGAGAACACCCCACTC	0.642													95	131					0	0	1	0	0	G	2698612	A	G	2698612	3	3	164	1	0	0	0	0	1	0	0	0	16738	43	2	3	1513	3	TTYH3	7	2698612	Missense_Mutation	SNP	A	TCGA-HT-7471-01A-11D-2253-08		2698612	156440051	9	7338											
C7orf42	55069	broad.mit.edu	37	chr7	66416082	66416082	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggggccattggaaaagtctAtcatgctttaaatcccaagc	12	10	10	9	0	2	0	1	0	1	0	3	1	3	1	2	3	2	1	2	3	6	4			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr7:66416082A>G	uc003tvk.3	+	4	1004	c.740A>G	c.(739-741)tAt>tGt	p.Y247C	C7orf42_uc010lah.3_Intron	NM_017994	NP_060464	Q9NWD8	CG042_HUMAN	Homo sapiens chromosome 7 open reading frame 42 (C7orf42), mRNA.	247						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	17						GGAAAAGTCTATCATGCTTTA	0.428													34	56					0	0	1	0	0	G	66416082	A	G	66416082	3	3	164	1	0	0	0	0	1	0	0	0	2392	449	16	3	754	3	C7orf42	7	66416082	Missense_Mutation	SNP	A	TCGA-HT-7471-01A-11D-2253-08	63717470	66416082	92722581	10	7339											
MYO3A	53904	broad.mit.edu	37	chr10	26500833	26500833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccagcagccaacccctacGacttcaggaggctcctgcgc	9	5	10	17	2	1	0	1	0	0	0	2	2	2	1	5	2	6	2	5	2	2	2			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr10:26500833G>A	uc001isn.2	+	34	5152	c.4792G>A	c.(4792-4794)Gac>Aac	p.D1598N	MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.R613Q	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1598					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CAACCCCTACGACTTCAGGAG	0.652													5	11					0	0	1	0	0	A	26500833	G	A	26500833	3	1	164	1	0	0	0	0	1	0	0	0	10076	1058	37	2	4922	2	MYO3A	10	26500833	Missense_Mutation	SNP	G	TCGA-HT-7471-01A-11D-2253-08		26500833	109033914	11	7340											
CHST15	51363	broad.mit.edu	37	chr10	125780796	125780796	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggcgttgttgagggtgttGttgtagacgcaggcgcgcag	6	11	18	6	4	0	2	0	1	0	1	0	2	0	2	0	3	0	7	0	3	1	5			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr10:125780796G>C	uc001lhn.3	-	5	2057	c.1323C>G	c.(1321-1323)aaC>aaG	p.N441K	CHST15_uc001lhm.3_Missense_Mutation_p.N441K|CHST15_uc010que.2_Missense_Mutation_p.N441K|CHST15_uc001lho.3_Missense_Mutation_p.N441K	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA.	441					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TGAGGGTGTTGTTGTAGACGC	0.542													10	10					0	0	1	0	0	C	125780796	G	C	125780796	3	2	164	1	0	0	0	0	1	0	0	0	3403	1368	48	5	374	5	CHST15	10	125780796	Missense_Mutation	SNP	G	TCGA-HT-7471-01A-11D-2253-08	99279963	125780796	9753951	12	7341											
RBM14	10432	broad.mit.edu	37	chr11	66411034	66411035	+	Frame_Shift_Ins	INS	-	-	CGATAGAT																															gcactggtccaaagagtgtcINScgatagatcgttcaggccgc																										TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr11:66411034_66411035insCGATAGAT	uc009yrj.3	+	2	1014_1015	c.526_527insCGATAGAT	c.(526-528)ccgfs	p.P176fs	RBM14_uc009yrk.3_Frame_Shift_Ins_p.P151fs|RBM14_uc021qmb.1_Intron|RBM14_uc001oiw.2_Frame_Shift_Ins_p.P176fs|RBM14_uc001oix.2_Intron|RBM14_uc010rpj.2_Intron|RBM14_uc001oiz.2_Frame_Shift_Ins_p.P176fs	NM_002896	NP_002887	Q96PK6	RBM14_HUMAN	Homo sapiens RNA binding motif protein 4 (RBM4), transcript variant 1, mRNA.	0					DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	RNA binding|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CAAAGAGTGTCCGATAGATCGT	0.579													14	81	---	---	---	---						CGATAGAT	66411035	-	CGATAGAT	66411034	7	5	164	1	0	1	1	0	0	0	0	0	13115	855	30	0		0	RBM14	11	66411034	Frame_Shift_Ins	INS	-	TCGA-HT-7471-01A-11D-2253-08		66411034	68595482	13	7342											
ETS1	2113	broad.mit.edu	37	chr11	128426243	128426243	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttgccatctcatcccaaaAggggtagcaaggtctttgct	10	11	10	10	0	2	0	1	0	2	0	4	0	3	0	2	3	3	4	2	3	4	3			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr11:128426243A>G	uc001qej.2	-	2	242	c.157T>C	c.(157-159)Ttt>Ctt	p.F53L		NM_001143820	NP_001137292	P14921	ETS1_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) (ETS1), transcript variant 1, mRNA.	151	PNT.				PML body organization|cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.F53F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TCATCCCAAAAGGGGTAGCAA	0.448													3	82					0	0	1	0	0	G	128426243	A	G	128426243	3	3	164	1	0	0	0	0	1	0	0	0	5275	72	3	4	1418	4	ETS1	11	128426243	Missense_Mutation	SNP	A	TCGA-HT-7471-01A-11D-2253-08	62015209	128426243	6580273	14	7343											
PZP	5858	broad.mit.edu	37	chr12	9309931	9309931	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgactccaggcagaacagGgcattgcgaacaatagggtt	12	7	13	9	1	0	2	0	1	0	1	1	3	1	2	1	3	3	4	1	3	4	3			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr12:9309931G>A	uc001qvl.3	-	27	3419	c.3390C>T	c.(3388-3390)gcC>gcT	p.A1130A	PZP_uc009zgl.3_Silent_p.A916A	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.									p.A1130T(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GGCAGAACAGGGCATTGCGAA	0.507													4	122					0	0	1	0	0	A	9309931	G	A	9309931	2	1	164	1	0	0	0	0	0	0	0	1	12869	1219	43	3		3	PZP	12	9309931	Silent	SNP	G	TCGA-HT-7471-01A-11D-2253-08		9309931	124541964	15	7344											
CCNT1	904	broad.mit.edu	37	chr12	49087565	49087565	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgcgcatttttatctcctCtggttttgaagacgcagctt	7	17	8	9	2	2	2	0	1	2	1	3	2	2	2	1	1	2	4	1	1	3	7			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr12:49087565C>A	uc001rsd.4	-	8	1755	c.1432G>T	c.(1432-1434)Gag>Tag	p.E478*	CCNT1_uc009zkz.2_Nonsense_Mutation_p.E193*|CCNT1_uc021qxk.1_5'Flank	NM_001240	NP_001231	O60563	CCNT1_HUMAN	Homo sapiens cyclin T1 (CCNT1), mRNA.	478					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						TTTATCTCCTCTGGTTTTGAA	0.453													36	65					1.836e-18	1.95075e-18	1	1	0	A	49087565	C	A	49087565	4	1	164	1	0	0	0	0	0	1	0	0	2934	922	32	5	752	5	CCNT1	12	49087565	Nonsense_Mutation	SNP	C	TCGA-HT-7471-01A-11D-2253-08	39777634	49087565	84764330	16	7345											
CHRNA3	1136	broad.mit.edu	37	chr15	78894483	78894483	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtacagttttggtaatcaaaCgggaagtaggtcacgtcgat	12	11	12	6	3	2	0	2	0	0	0	3	2	2	1	0	3	2	4	0	3	5	5			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr15:78894483C>T	uc002bec.3	-	4	1002	c.501G>A	c.(499-501)ccG>ccA	p.P167P	CHRNA3_uc002beb.3_Silent_p.P167P|CHRNA3_uc002bea.3_Non-coding_Transcript	NM_000743	NP_000734	P32297	ACHA3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 3 (CHRNA3), transcript variant 1, mRNA.	167					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGTAATCAAACGGGAAGTAGG	0.483													28	137					0	0	1	0	0	T	78894483	C	T	78894483	2	4	164	1	0	0	0	0	0	0	0	1	3384	523	19	1		1	CHRNA3	15	78894483	Silent	SNP	C	TCGA-HT-7471-01A-11D-2253-08		78894483	23636909	17	7346											
MYH4	4622	broad.mit.edu	37	chr17	10355562	10355562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgatctcctccagctccCgggagaggtcagagcgctgc	7	7	12	15	2	2	3	1	1	1	2	5	4	4	3	3	2	3	2	3	2	0	0			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr17:10355562C>T	uc002gmn.3	-	26	3545	c.3434G>A	c.(3433-3435)cGg>cAg	p.R1145Q	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1145					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1145L(2)|p.S1144F(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTCCAGCTCCCGGGAGAGGTC	0.592													6	155					0	0	1	0	0	T	10355562	C	T	10355562	3	4	164	1	0	0	0	0	1	0	0	0	10037	652	23	2	2441	2	MYH4	17	10355562	Missense_Mutation	SNP	C	TCGA-HT-7471-01A-11D-2253-08		10355562	70839648	18	7347											
TMC8	147138	broad.mit.edu	37	chr17	76130033	76130033	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggacttctgcatccgggtGcaggaagcagccaccatcaa	10	7	12	12	1	2	0	1	0	1	0	3	2	3	2	3	3	4	3	3	3	2	1			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr17:76130033G>A	uc002jup.2	+	6	1150	c.768G>A	c.(766-768)gtG>gtA	p.V256V	TMC6_uc002jul.1_5'Flank|TMC8_uc002juq.2_Silent_p.V33V|TMC8_uc010wtr.1_5'Flank	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	Homo sapiens transmembrane channel-like 8 (TMC8), mRNA.	256						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GCATCCGGGTGCAGGAAGCAG	0.577													31	35					0	0	1	0	0	A	76130033	G	A	76130033	2	1	164	1	0	0	0	0	0	0	0	1	15988	1306	46	3		3	TMC8	17	76130033	Silent	SNP	G	TCGA-HT-7471-01A-11D-2253-08	65774471	76130033	5065177	19	7348											
GATA6	2627	broad.mit.edu	37	chr18	19751533	19751533	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccccttcgcacccgagcAgccggaggagatgtaccaga	10	4	13	14	3	0	2	0	0	0	2	1	6	0	3	5	2	4	3	5	2	1	2			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr18:19751533A>G	uc002ktt.1	+	1	693	c.428A>G	c.(427-429)cAg>cGg	p.Q143R	GATA6_uc002ktu.1_Missense_Mutation_p.Q143R	NM_005257	NP_005248	Q92908	GATA6_HUMAN	Homo sapiens GATA binding protein 6 (GATA6), mRNA.	143					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GCACCCGAGCAGCCGGAGGAG	0.716													6	33					0	0	1	0	0	G	19751533	A	G	19751533	3	3	164	1	0	0	0	0	1	0	0	0	6258	188	7	4	430	4	GATA6	18	19751533	Missense_Mutation	SNP	A	TCGA-HT-7471-01A-11D-2253-08		19751533	58325715	20	7349											
MUC16	94025	broad.mit.edu	37	chr19	9090831	9090831	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcttagtgtcatggaaaaAgggatagctgagttgggcat	11	12	14	4	0	1	1	1	1	0	0	1	3	1	3	0	3	2	4	0	3	4	4			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr19:9090831A>G	uc002mkp.3	-	0	1188	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	328	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522													4	76					0	0	1	0	0	G	9090831	A	G	9090831	2	3	164	1	0	0	0	0	0	0	0	1	9973	59	3	4		4	MUC16	19	9090831	Silent	SNP	A	TCGA-HT-7471-01A-11D-2253-08		9090831	50038152	21	7350											
GLT25D1	79709	broad.mit.edu	37	chr19	17690296	17690296	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcctccctcaggtggtGgaccgggggctgcagaaatc	6	8	15	12	1	1	1	1	0	0	1	4	2	3	2	3	6	1	3	3	6	1	1			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr19:17690296G>A	uc002nhc.1	+	9	1284	c.1272G>A	c.(1270-1272)gtG>gtA	p.V424V	GLT25D1_uc010eax.1_Silent_p.V152V	NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN	Homo sapiens glycosyltransferase 25 domain containing 1 (GLT25D1), mRNA.	424					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	14						CTCAGGTGGTGGACCGGGGGC	0.562													29	42					0	0	1	0	0	A	17690296	G	A	17690296	2	1	164	1	0	0	0	0	0	0	0	1	6466	1335	47	3		3	GLT25D1	19	17690296	Silent	SNP	G	TCGA-HT-7471-01A-11D-2253-08	8599465	17690296	41438687	22	7351											
ATP13A1	57130	broad.mit.edu	37	chr19	19758334	19758334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgcagcacctggctcaggcGgtcctgcagggtagacagca	8	6	14	13	2	1	1	1	0	0	1	3	1	2	1	2	4	3	6	2	4	1	1			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr19:19758334G>A	uc002nnh.4	-	20	2825	c.2797C>T	c.(2797-2799)Cgc>Tgc	p.R933C	ATP13A1_uc002nne.3_Missense_Mutation_p.R73C|ATP13A1_uc002nnf.4_Missense_Mutation_p.R301C|ATP13A1_uc002nng.3_Missense_Mutation_p.R815C	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	933					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TGGCTCAGGCGGTCCTGCAGG	0.637													3	22					0	0	1	0	0	A	19758334	G	A	19758334	3	1	164	1	0	0	0	0	1	0	0	0	1123	1116	39	2	841	2	ATP13A1	19	19758334	Missense_Mutation	SNP	G	TCGA-HT-7471-01A-11D-2253-08	2068038	19758334	39370649	23	7352											
CIC	23152	broad.mit.edu	37	chr19	42794411	42794411	+	Frame_Shift_Del	DEL	T	T	-																															ggtcggaaggtgttttcaccTgtgatccgttcctcctttac																										TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr19:42794411delT	uc002otf.1	+	9	1531	c.1491delT	c.(1489-1491)cctfs	p.P497fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGTTTTCACCTGTGATCCGTT	0.617			"Mis, F, S"		oligodendroglioma								82	27	---	---	---	---						-	42794411	T	-	42794411	7	5	164	1	0	1	0	1	0	0	0	0	3424	1567	55	0	1529	0	CIC	19	42794411	Frame_Shift_Del	DEL	T	TCGA-HT-7471-01A-11D-2253-08	23036077	42794411	16334572	24	7353											
ZNF761	388561	broad.mit.edu	37	chr19	53959188	53959188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaatgtgacaaagctttccGtttcaaatcaaaccttgaaa	16	11	6	8	1	2	3	2	2	0	1	3	3	3	3	2	0	2	2	2	0	5	3	rs144532705		TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr19:53959188G>A	uc010eqp.3	+	6	1885	c.1427G>A	c.(1426-1428)cGt>cAt	p.R476H	ZNF761_uc010ydy.2_Missense_Mutation_p.R422H|ZNF761_uc002qbt.2_Missense_Mutation_p.R422H	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	Homo sapiens zinc finger protein 761 (ZNF761), mRNA.	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AAAGCTTTCCGTTTCAAATCA	0.423													36	2					0	0	1	0	0	A	53959188	G	A	53959188	3	1	164	1	0	0	0	0	1	0	0	0	18133	1145	40	1	1438	1	ZNF761	19	53959188	Missense_Mutation	SNP	G	TCGA-HT-7471-01A-11D-2253-08	11164777	53959188	5169795	25	7354											
SON	6651	broad.mit.edu	37	chr21	34924118	34924118	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatgttagcaactagctcaAtggattcccagatgttagca	13	11	9	8	0	1	2	1	0	0	2	2	3	2	3	1	1	4	5	1	1	5	4	rs142324795		TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr21:34924118A>G	uc002yse.1	+	2	2630	c.2581A>G	c.(2581-2583)Atg>Gtg	p.M861V	SON_uc002ysb.1_Missense_Mutation_p.M861V|SON_uc002ysc.3_Missense_Mutation_p.M861V|SON_uc002ysd.3_Intron|SON_uc002ysf.1_Intron|SON_uc021win.1_Missense_Mutation_p.M507V|SON_uc002ysg.3_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	861	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AACTAGCTCAATGGATTCCCA	0.493													81	112					0	0	1	0	0	G	34924118	A	G	34924118	3	3	164	1	0	0	0	0	1	0	0	0	14926	101	4	3	2591	3	SON	21	34924118	Missense_Mutation	SNP	A	TCGA-HT-7471-01A-11D-2253-08		34924118	13205777	26	7355											
LRRC3	81543	broad.mit.edu	37	chr21	45876870	45876870	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcgggcctggccgggggcCtgcggctgctggacctgtct	1	8	18	14	4	1	0	0	0	1	0	2	1	1	1	4	6	2	2	4	6	0	0	rs138458454		TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr21:45876870C>T	uc021wjs.1	+	0	343	c.343C>T	c.(343-345)Ctg>Ttg	p.L115L	LRRC3_uc002zfa.3_Silent_p.L115L	NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	Homo sapiens leucine rich repeat containing 3 (LRRC3), mRNA.	115						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		GGCCGGGGGCCTGCGGCTGCT	0.672													4	49					0	0	1	0	0	T	45876870	C	T	45876870	2	4	164	1	0	0	0	0	0	0	0	1	8984	680	24	3		3	LRRC3	21	45876870	Silent	SNP	C	TCGA-HT-7471-01A-11D-2253-08	10952752	45876870	2253025	27	7356											
MXRA5	25878	broad.mit.edu	37	chrX	3238337	3238337	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	taagttagttgagggtgatcCcgtggtctgcggagtgtgca	7	12	16	6	2	1	2	0	2	1	0	2	3	2	3	1	3	2	3	1	3	2	3			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chrX:3238337C>T	uc004crg.4	-	4	5546	c.5389G>A	c.(5389-5391)Gga>Aga	p.G1797R		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1797						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GAGGGTGATCCCGTGGTCTGC	0.493													20	23					0	0	1	0	0	T	3238337	C	T	3238337	3	4	164	1	0	0	0	0	1	0	0	0	10003	632	22	3	3109	3	MXRA5	23	3238337	Missense_Mutation	SNP	C	TCGA-HT-7471-01A-11D-2253-08		3238337	152032223	28	7357											
CD99L2	83692	broad.mit.edu	37	chrX	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-																															tggttcctggcctattggttGtggtggtggtggtgtggtcc																										TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chrX:149984524_149984526delGTG	uc004fek.3	-	2	384_386	c.156_158delCAC	c.(154-159)accaca>aca	p.52_53TT>T	CD99L2_uc011myb.2_In_Frame_Del_p.52_53TT>T|CD99L2_uc004feo.3_Non-coding_Transcript|CD99L2_uc004fel.3_In_Frame_Del_p.52_53TT>T|CD99L2_uc004fem.3_Intron|CD99L2_uc004fen.3_Intron	NM_001242614	NP_001229543	Q8TCZ2	C99L2_HUMAN	Homo sapiens CD99 molecule-like 2 (CD99L2), transcript variant 5, mRNA.	52	Poly-Thr.				cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552													7	428	---	---	---	---						-	149984526	GTG	-	149984524	7	5	164	1	0	1	0	1	0	0	0	0	3051	1377	48	0	666	0	CD99L2	23	149984524	In_Frame_Del	DEL	GTG	TCGA-HT-7471-01A-11D-2253-08	146746187	149984524	5286036	29	7358											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150531779	150531779	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctagtgctcctccgaatgtgGctctggcacacagcgtagag	8	9	12	12	2	1	1	0	0	1	1	3	2	3	1	2	2	2	4	2	2	3	2			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr1:150531779G>A	uc009wlw.3	+	16	3007	c.2849G>A	c.(2848-2850)gGc>gAc	p.G950D	ADAMTSL4_uc001eux.3_Missense_Mutation_p.G927D|ADAMTSL4_uc010pcg.2_Missense_Mutation_p.G888D|ADAMTSL4_uc009wlx.3_Missense_Mutation_p.G90D	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	927	TSP type-1 5.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TCCGAATGTGGCTCTGGCACA	0.592											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	57					0	0	1	0	0	A	150531779	G	A	150531779	3	1	165	1	0	0	0	0	1	0	0	0	277	1203	42	3	2913	3	ADAMTSL4	1	150531779	Missense_Mutation	SNP	G	TCGA-HT-7472-01A-11D-2024-08		150531779	98718842	1	7359											
RPTN	126638	broad.mit.edu	37	chr1	152128277	152128280	+	Frame_Shift_Del	DEL	TGTC	TGTC	-																															catagtgggaactctggcctTgtctgtctgtctgaccgtag																										TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr1:152128277_152128280delTGTC	uc001ezs.1	-	2	1360_1363	c.1295_1298delGACA	c.(1294-1299)agacaafs	p.R432fs		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	432	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.R432K(2)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.525													7	1154	---	---	---	---						-	152128280	TGTC	-	152128277	7	5	165	1	0	1	0	1	0	0	0	0	13664	1812	63	0	1060	0	RPTN	1	152128277	Frame_Shift_Del	DEL	TGTC	TCGA-HT-7472-01A-11D-2024-08	1596498	152128277	97122344	2	7360											
RPS6KC1	26750	broad.mit.edu	37	chr1	213414640	213414640	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttaggatagacagtaaggaTagcgcaagtgaactcctggg	13	9	13	6	1	0	2	0	1	0	1	1	4	1	4	1	3	2	2	1	3	6	5			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr1:213414640T>C	uc010ptr.2	+	10	1980	c.1821T>C	c.(1819-1821)gaT>gaC	p.D607D	RPS6KC1_uc001hkd.3_Silent_p.D595D|RPS6KC1_uc010pts.2_Silent_p.D395D|RPS6KC1_uc010ptt.2_Silent_p.D395D|RPS6KC1_uc010ptu.2_Silent_p.D426D|RPS6KC1_uc010ptv.2_Silent_p.D142D|RPS6KC1_uc001hke.3_Silent_p.D426D	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 52kDa, polypeptide 1 (RPS6KC1), transcript variant 1, mRNA.	607					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		ACAGTAAGGATAGCGCAAGTG	0.408													19	54					0	0	1	0	0	C	213414640	T	C	213414640	2	2	165	1	0	0	0	0	0	0	0	1	13658	1403	49	3		3	RPS6KC1	1	213414640	Silent	SNP	T	TCGA-HT-7472-01A-11D-2024-08	61286363	213414640	35835981	3	7361											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								27	45					0	0	1	0	0	T	209113112	C	T	209113112	3	4	165	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08		209113112	34086261	4	7362											
WNT7A	7476	broad.mit.edu	37	chr3	13860812	13860812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtacttgtccttgagcaCgtagcccagctcccgaaact	8	11	9	13	2	0	1	0	1	0	0	2	2	2	1	3	0	5	5	3	0	3	5			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr3:13860812C>T	uc003bye.1	-	3	984	c.679G>A	c.(679-681)Gtg>Atg	p.V227M		NM_004625	NP_004616	O00755	WNT7A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7A (WNT7A), mRNA.	227					Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of JNK cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TCCTTGAGCACGTAGCCCAGC	0.587													13	60					0	0	1	0	0	T	13860812	C	T	13860812	3	4	165	1	0	0	0	0	1	0	0	0	17391	536	19	1	374	1	WNT7A	3	13860812	Missense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08		13860812	184161618	5	7363											
OSBPL10	114884	broad.mit.edu	37	chr3	31725264	31725264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgatgggacacttgctcagCcacaaaccttagtttgtagc	10	11	10	10	0	1	1	1	1	0	0	1	2	1	2	2	1	4	3	2	1	3	4			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr3:31725264C>T	uc021wuu.1	-	7	2259	c.1588G>A	c.(1588-1590)Gct>Act	p.A530T	OSBPL10_uc003ceu.1_Missense_Mutation_p.A287T|OSBPL10_uc011axf.2_Missense_Mutation_p.A466T	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	530					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		ACTTGCTCAGCCACAAACCTT	0.527													8	93					0	0	1	0	0	T	31725264	C	T	31725264	3	4	165	1	0	0	0	0	1	0	0	0	11275	739	26	3	726	3	OSBPL10	3	31725264	Missense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08	17864452	31725264	166297166	6	7364											
MYH15	22989	broad.mit.edu	37	chr3	108216948	108216948	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatggtggcaaaatactggAtaatatgtttgctgttcaca	12	14	9	6	0	1	0	1	0	0	0	1	1	1	1	0	3	2	4	0	3	6	6			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr3:108216948A>G	uc003dxa.1	-	6	686	c.629T>C	c.(628-630)aTc>aCc	p.I210T		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	210	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AAAATACTGGATAATATGTTT	0.403													55	96					0	0	1	0	0	G	108216948	A	G	108216948	3	3	165	1	0	0	0	0	1	0	0	0	10034	333	12	3	5355	3	MYH15	3	108216948	Missense_Mutation	SNP	A	TCGA-HT-7472-01A-11D-2024-08	76491684	108216948	89805482	7	7365											
MED28	80306	broad.mit.edu	37	chr4	17616285	17616285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccattccaaacatggcggCtccactagggggtatgtttt	8	11	11	11	2	0	0	0	0	0	0	2	0	2	0	3	4	1	3	3	4	3	5			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr4:17616285C>T	uc003gpi.1	+	0	13	c.8C>T	c.(7-9)gCt>gTt	p.A3V	MED28_uc003gpj.3_Non-coding_Transcript	NM_025205	NP_079481	Q9H204	MED28_HUMAN	Homo sapiens mediator complex subunit 28 (MED28), mRNA.	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|nucleus	actin binding			lung(6)|skin(2)	8						AACATGGCGGCTCCACTAGGG	0.652													16	23					0	0	1	0	0	T	17616285	C	T	17616285	3	4	165	1	0	0	0	0	1	0	0	0	9446	797	28	3	10	3	MED28	4	17616285	Missense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08		17616285	173537991	8	7366											
F13A1	2162	broad.mit.edu	37	chr6	6145947	6145947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctatcagcttccgatgccCagagacccagggccggcaca	9	5	12	15	2	1	1	1	0	0	1	2	3	2	1	4	3	2	3	4	3	1	2			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr6:6145947C>T	uc003mwv.3	-	14	2227	c.2104G>A	c.(2104-2106)Ggg>Agg	p.G702R	F13A1_uc011dib.2_Silent_p.L595L	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	702					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TTCCGATGCCCAGAGACCCAG	0.547													17	76					0	0	1	0	0	T	6145947	C	T	6145947	3	4	165	1	0	0	0	0	1	0	0	0	5340	594	21	3	98	3	F13A1	6	6145947	Missense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08		6145947	164969120	9	7367											
MKLN1	4289	broad.mit.edu	37	chr7	131113796	131113799	+	Frame_Shift_Del	DEL	TGTT	TGTT	-																															tttctgattttcatagagacTgtttatttgtttggtggctg																										TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr7:131113796_131113799delTGTT	uc011kpm.2	+	8	916_919	c.852_855delTGTT	c.(850-855)actgttfs	p.T284fs	MKLN1_uc011kpl.2_Frame_Shift_Del_p.T261fs|MKLN1_uc010lmh.2_Frame_Shift_Del_p.T284fs|MKLN1_uc003vqs.3_Frame_Shift_Del_p.T77fs	NM_013255	NP_037387	Q9UL63	MKLN1_HUMAN	Homo sapiens muskelin 1, intracellular mediator containing kelch motifs (MKLN1), transcript variant 2, mRNA.	284					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					TCATAGAGACTGTTTATTTGTTTG	0.402													20	49	---	---	---	---						-	131113799	TGTT	-	131113796	7	5	165	1	0	1	0	1	0	0	0	0	9603	1567	55	0	919	0	MKLN1	7	131113796	Frame_Shift_Del	DEL	TGTT	TCGA-HT-7472-01A-11D-2024-08		131113796	28024867	10	7368											
PCM1	5108	broad.mit.edu	37	chr8	17867095	17867096	+	Frame_Shift_Del	DEL	TG	TG	-																															ctggcagaaaactgaaagacTgtggagaagatcttcttgta																										TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr8:17867095_17867096delTG	uc022asj.1	+	29	5141_5142	c.5119_5120delTG	c.(5119-5121)tgtfs	p.C1707fs	PCM1_uc003wyi.4_Frame_Shift_Del_p.C1668fs|PCM1_uc011kyh.2_Frame_Shift_Del_p.C1660fs|PCM1_uc003wyj.4_Frame_Shift_Del_p.C1614fs|PCM1_uc011kyi.2_Frame_Shift_Del_p.C467fs|PCM1_uc011kyj.2_Frame_Shift_Del_p.C424fs|PCM1_uc003wyk.4_Frame_Shift_Del_p.C350fs|PCM1_uc011kyk.2_Frame_Shift_Del_p.C284fs	NM_006197	NP_006188	Q15154	PCM1_HUMAN	Homo sapiens pericentriolar material 1 (PCM1), mRNA.	1668	Interaction with HAP1.				G2/M transition of mitotic cell cycle|centrosome organization|cilium assembly|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		ACTGAAAGACTGTGGAGAAGAT	0.287			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								4	9	---	---	---	---						-	17867096	TG	-	17867095	7	5	165	1	0	1	0	1	0	0	0	0	11584	1580	55	0	5116	0	PCM1	8	17867095	Frame_Shift_Del	DEL	TG	TCGA-HT-7472-01A-11D-2024-08		17867095	128496927	11	7369											
VDAC3	7419	broad.mit.edu	37	chr8	42257212	42257212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgataccatatttgtacCgaacacagggtaattattca	13	14	6	8	1	2	1	1	1	1	0	2	2	2	1	2	1	3	2	2	1	6	8			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr8:42257212C>T	uc022aul.1	+	4	319	c.317C>T	c.(316-318)cCg>cTg	p.P106L	VDAC3_uc010lxk.3_Intron|VDAC3_uc003xpc.3_Missense_Mutation_p.P105L|VDAC3_uc011lct.2_Missense_Mutation_p.P105L	NM_001135694	NP_001129166	Q9Y277	VDAC3_HUMAN	Homo sapiens voltage-dependent anion channel 3 (VDAC3), transcript variant 2, mRNA.	105					adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	ATATTTGTACCGAACACAGGG	0.338													12	24					0	0	1	0	0	T	42257212	C	T	42257212	3	4	165	1	0	0	0	0	1	0	0	0	17145	652	23	2	331	2	VDAC3	8	42257212	Missense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08	24390117	42257212	104106810	12	7370											
GAPVD1	26130	broad.mit.edu	37	chr9	128124938	128124938	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatatcagtagcttttatgcTagctgtctgtctggagagga	9	15	11	6	0	3	1	1	0	2	1	3	3	3	2	0	2	3	4	0	2	5	6			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr9:128124938T>C	uc004bpp.3	+	26	4537	c.4377T>C	c.(4375-4377)gcT>gcC	p.A1459A	GAPVD1_uc004bpq.3_Silent_p.A1432A|GAPVD1_uc010mwx.3_Silent_p.A1450A|GAPVD1_uc004bpr.3_Silent_p.A1411A|GAPVD1_uc004bps.3_Silent_p.A1405A|GAPVD1_uc004bpt.3_Silent_p.A465A	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.	1450	VPS9.				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GCTTTTATGCTAGCTGTCTGT	0.418													48	85					0	0	1	0	0	C	128124938	T	C	128124938	2	2	165	1	0	0	0	0	0	0	0	1	6239	1509	53	4		4	GAPVD1	9	128124938	Silent	SNP	T	TCGA-HT-7472-01A-11D-2024-08		128124938	13088493	13	7371											
ANGPTL2	23452	broad.mit.edu	37	chr9	129854133	129854133	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccagtcctccatggtcacCaggagtttgtagttgccttg	7	12	11	11	0	1	0	1	0	0	0	3	2	3	1	5	2	1	3	5	2	1	4			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr9:129854133C>G	uc004bqr.1	-	3	1598	c.1098G>C	c.(1096-1098)ctG>ctC	p.L366L	RALGPS1_uc022bno.1_Intron|RALGPS1_uc011mab.2_Intron|RALGPS1_uc011mac.2_Intron|RALGPS1_uc004bqo.2_Intron|RALGPS1_uc004bqq.4_Intron|ANGPTL2_uc010mxg.1_Silent_p.L64L	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN	Homo sapiens angiopoietin-like 2 (ANGPTL2), mRNA.	366	Fibrinogen C-terminal.				multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						CCATGGTCACCAGGAGTTTGT	0.552													92	198					0	0	1	0	0	G	129854133	C	G	129854133	2	3	165	1	0	0	0	0	0	0	0	1	614	581	21	5		5	ANGPTL2	9	129854133	Silent	SNP	C	TCGA-HT-7472-01A-11D-2024-08	1729195	129854133	11359298	14	7372											
OR52B6	340980	broad.mit.edu	37	chr11	5602531	5602531	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccatggcctttgaccgctAtgtggccatctgctcccccc	4	10	10	17	1	1	1	0	1	1	0	2	1	2	1	7	3	1	2	7	3	1	2			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr11:5602531A>G	uc010qzi.2	+	0	425	c.425A>G	c.(424-426)tAt>tGt	p.Y142C	HBG1_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 6 (OR52B6), mRNA.	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R141S(1)		endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTGACCGCTATGTGGCCATC	0.512													49	78					0	0	1	0	0	G	5602531	A	G	5602531	3	3	165	1	0	0	0	0	1	0	0	0	11113	449	16	3	427	3	OR52B6	11	5602531	Missense_Mutation	SNP	A	TCGA-HT-7472-01A-11D-2024-08		5602531	129403985	15	7373											
OR8I2	120586	broad.mit.edu	37	chr11	55861581	55861581	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacctgataacacatcatcGctgacccaggcgcaggtggc	11	6	10	14	2	1	2	1	2	0	0	2	2	1	2	2	3	2	2	2	3	2	1			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr11:55861581G>A	uc010rix.2	+	0	798	c.798G>A	c.(796-798)tcG>tcA	p.S266S		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S265*(1)|p.S266*(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					ACACATCATCGCTGACCCAGG	0.468													7	89					0	0	1	0	0	A	55861581	G	A	55861581	2	1	165	1	0	0	0	0	0	0	0	1	11240	1074	38	1		1	OR8I2	11	55861581	Silent	SNP	G	TCGA-HT-7472-01A-11D-2024-08	50259050	55861581	79144935	16	7374											
MYLK3	91807	broad.mit.edu	37	chr16	46766546	46766546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtcatcagcatctcccCaggagtatccatctcttgta	8	12	7	14	0	4	0	2	0	2	0	7	1	5	1	4	1	1	3	4	1	2	3			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr16:46766546C>T	uc002eei.4	-	3	1152	c.1036G>A	c.(1036-1038)Ggg>Agg	p.G346R	MYLK3_uc010vge.2_Missense_Mutation_p.G5R|MYLK3_uc002eej.1_Missense_Mutation_p.G5R	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	346					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AGCATCTCCCCAGGAGTATCC	0.607													8	12					0	0	1	0	0	T	46766546	C	T	46766546	3	4	165	1	0	0	0	0	1	0	0	0	10058	594	21	3	1463	3	MYLK3	16	46766546	Missense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08		46766546	43588207	17	7375											
TP53	7157	broad.mit.edu	37	chr17	7577142	7577142	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacctcaaagctgttccgtcCcagtagattaccactactca	11	10	5	15	1	2	1	2	0	0	1	4	1	4	1	4	0	3	3	4	0	4	4			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr17:7577142C>T	uc002gim.2	-	7	990	c.796G>A	c.(796-798)Gga>Aga	p.G266R	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.G266R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G134R|TP53_uc010cnf.1_Missense_Mutation_p.G134R|TP53_uc002gii.1_Missense_Mutation_p.G134R|TP53_uc010cni.1_Missense_Mutation_p.G266R|TP53_uc010cnh.1_Missense_Mutation_p.G266R|TP53_uc002gij.2_Missense_Mutation_p.G266R|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.	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G266R(91)|p.G266E(49)|p.G266V(36)|p.G266*(27)|p.L265P(15)|p.0?(8)|p.G266fs*79(7)|p.G262_F270delGNLLGRNSF(4)|p.G262_S269delGNLLGRNS(4)|p.L265R(4)|p.L265M(4)|p.L265fs*80(3)|p.?(3)|p.G266_E271delGRNSFE(3)|p.L265L(3)|p.G266T(2)|p.G266_N268delGRN(2)|p.G266G(2)|p.G266fs*9(2)|p.G266A(2)|p.L265_R267delLGR(2)|p.L265_K305del41(2)|p.L265del(2)|p.E258fs*71(1)|p.L265fs*81(1)|p.264_265insSSGNL(1)|p.G262fs*2(1)|p.G266fs*4(1)|p.N263fs*5(1)|p.L265Q(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)		CTGTTCCGTCCCAGTAGATTA	0.517		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)			17	4					0	0	1	0	0	T	7577142	C	T	7577142	3	4	165	1	0	0	0	0	1	0	0	0	16378	632	22	3	490	3	TP53	17	7577142	Missense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08		7577142	73618068	18	7376											
EIF4A3	9775	broad.mit.edu	37	chr17	78117984	78117984	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacttactgtgcgatgacatCtctccctttgatgatctgct	8	15	7	11	1	2	3	0	3	2	0	4	4	3	3	1	0	4	1	1	0	2	2			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr17:78117984C>G	uc010wuc.2	-	2	302	c.229G>C	c.(229-231)Gat>Cat	p.D77H	EIF4A3_uc002jxs.3_Missense_Mutation_p.D77H	NM_014740	NP_055555	P38919	IF4A3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4A3 (EIF4A3), mRNA.	77	Helicase ATP-binding.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			GCGATGACATCTCTCCCTTTG	0.473													5	63					0	0	1	0	0	G	78117984	C	G	78117984	3	3	165	1	0	0	0	0	1	0	0	0	5026	913	32	5	1050	5	EIF4A3	17	78117984	Missense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08	70540842	78117984	3077226	19	7377											
NUMBL	9253	broad.mit.edu	37	chr19	41173875	41173877	+	In_Frame_Del	DEL	TGC	TGC	-																															ctgaggctgcttgctgctgtTgctgctgctgctgctgctgc																										TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr19:41173875_41173877delTGC	uc002oon.3	-	9	1494_1496	c.1326_1328delGCA	c.(1324-1329)cagcaa>caa	p.442_443QQ>Q	NUMBL_uc010xvq.2_In_Frame_Del_p.401_402QQ>Q|NUMBL_uc010xvr.2_In_Frame_Del_p.401_402QQ>Q|NUMBL_uc002ooo.3_In_Frame_Del_p.441_442QQ>Q	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	Homo sapiens numb homolog (Drosophila)-like (NUMBL), mRNA.	442	Poly-Gln.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			ttgctgctgttgctgctgctgct	0.66													3	6	---	---	---	---						-	41173877	TGC	-	41173875	7	5	165	1	0	1	0	1	0	0	0	0	10752	1812	63	0	505	0	NUMBL	19	41173875	In_Frame_Del	DEL	TGC	TCGA-HT-7472-01A-11D-2024-08		41173875	17955108	20	7378											
NCOA3	8202	broad.mit.edu	37	chr20	46267764	46267764	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaacaggtttgaaaagttCacagtctgtgcagtctattc	11	14	8	8	0	4	1	2	1	2	0	5	1	4	1	0	1	2	3	0	1	4	5			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr20:46267764C>G	uc002xtk.3	+	13	2786	c.2525C>G	c.(2524-2526)tCa>tGa	p.S842*	NCOA3_uc002xtl.3_Nonsense_Mutation_p.S842*|NCOA3_uc002xtn.3_Nonsense_Mutation_p.S842*|NCOA3_uc010ght.2_Nonsense_Mutation_p.S852*|NCOA3_uc002xtm.3_Nonsense_Mutation_p.S842*|NCOA3_uc010zyc.2_Nonsense_Mutation_p.S637*	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	842					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TTGAAAAGTTCACAGTCTGTG	0.388													40	59					0	0	1	0	0	G	46267764	C	G	46267764	4	3	165	1	0	0	0	0	0	1	0	0	10230	838	29	5	2601	5	NCOA3	20	46267764	Nonsense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08		46267764	16757756	21	7379											
POLR3H	171568	broad.mit.edu	37	chr22	41936719	41936719	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctttggtgtgtgatgcGccatccccagggaatacata	9	10	10	12	1	0	1	0	1	0	0	1	2	1	2	5	2	2	0	5	2	3	3			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr22:41936719G>A	uc003baf.3	-	2	257	c.192C>T	c.(190-192)ggC>ggT	p.G64G	POLR3H_uc003bag.2_Silent_p.G64G|POLR3H_uc003bai.2_Silent_p.G64G|POLR3H_uc003baj.2_Silent_p.G64G	NM_138338	NP_612211	Q9Y535	RPC8_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide H (22.9kD) (POLR3H), transcript variant 1, mRNA.	64					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	p.G64G(3)		breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						TGTGTGATGCGCCATCCCCAG	0.502													29	60					0	0	1	0	0	A	41936719	G	A	41936719	2	1	165	1	0	0	0	0	0	0	0	1	12236	1074	38	1		1	POLR3H	22	41936719	Silent	SNP	G	TCGA-HT-7472-01A-11D-2024-08		41936719	9367847	22	7380											
BCOR	54880	broad.mit.edu	37	chrX	39934221	39934221	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tccactgtctcgggtgtattCggtttgaactgcatctctgg	5	15	11	10	2	2	1	0	1	2	0	6	1	3	1	1	3	2	3	1	3	2	3			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chrX:39934221C>G	uc004den.4	-	3	670	c.378G>C	c.(376-378)ccG>ccC	p.P126P	BCOR_uc004dep.4_Silent_p.P126P|BCOR_uc004deo.4_Silent_p.P126P|BCOR_uc004dem.4_Silent_p.P126P|BCOR_uc004deq.4_Silent_p.P126P	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	126					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						CGGGTGTATTCGGTTTGAACT	0.507			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						15	11					0	0	1	0	0	G	39934221	C	G	39934221	2	3	165	1	0	0	0	0	0	0	0	1	1386	871	31	5		5	BCOR	23	39934221	Silent	SNP	C	TCGA-HT-7472-01A-11D-2024-08		39934221	115336339	23	7381											
ATRX	546	broad.mit.edu	37	chrX	76937477	76937480	+	Frame_Shift_Del	DEL	TCTC	TCTC	-																															aagcaacttgcaccttttctTctctctaccatatgctccat																										TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chrX:76937477_76937480delTCTC	uc004ecp.4	-	8	3500_3503	c.3268_3271delGAGA	c.(3268-3273)gagaagfs	p.E1090fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.E1052fs|ATRX_uc004eco.4_Frame_Shift_Del_p.E875fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.E1022fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.E1061fs|ATRX_uc010nly.1_Frame_Shift_Del_p.E1035fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1090					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CACCTTTTCTTCTCTCTACCATAT	0.377			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						114	74	---	---	---	---						-	76937480	TCTC	-	76937477	7	5	165	1	0	1	0	1	0	0	0	0	1208	1792	62	0	4315	0	ATRX	23	76937477	Frame_Shift_Del	DEL	TCTC	TCGA-HT-7472-01A-11D-2024-08	37003256	76937477	78333083	24	7382											
RYR2	6262	broad.mit.edu	37	chr1	237753198	237753198	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catctgtggcttacaagaggGctatgaaccatttgccgtta	10	12	10	9	1	1	2	0	1	1	1	1	2	1	2	2	2	3	3	2	2	5	4			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr1:237753198G>T	uc001hyl.1	+	29	3824	c.3704G>T	c.(3703-3705)gGc>gTc	p.G1235V		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1235	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTACAAGAGGGCTATGAACCA	0.433													4	32					0.184627	0.190583	1	1	0	T	237753198	G	T	237753198	3	4	166	1	0	0	0	0	1	0	0	0	13769	1203	42	5	3822	5	RYR2	1	237753198	Missense_Mutation	SNP	G	TCGA-HT-7473-01A-11D-2024-08		237753198	11497423	1	7383											
SSB	6741	broad.mit.edu	37	chr2	170665016	170665016	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattactttgccaaaaaaaaTgaagaaagaaaacaaaataa	25	7	5	4	0	0	3	0	1	0	2	0	4	0	3	1	0	3	0	1	0	12	3			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr2:170665016T>A	uc002ufk.3	+	6	753	c.579T>A	c.(577-579)aaT>aaA	p.N193K	SSB_uc002ufm.3_Missense_Mutation_p.N193K	NM_003142	NP_003133	P05455	LA_HUMAN	Homo sapiens Sjogren syndrome antigen B (autoantigen La) (SSB), mRNA.	193					histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CCAAAAAAAATGAAGAAAGAA	0.318													8	41					0	0	1	0	0	A	170665016	T	A	170665016	3	1	166	1	0	0	0	0	1	0	0	0	15177	1461	51	5	601	5	SSB	2	170665016	Missense_Mutation	SNP	T	TCGA-HT-7473-01A-11D-2024-08		170665016	72534357	2	7384											
INO80D	54891	broad.mit.edu	37	chr2	206921218	206921218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agactgaaccctgcggtggcGctggaggttttaaagaagta	11	9	14	7	2	0	3	0	1	0	2	0	4	0	4	1	4	2	3	1	4	5	3			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr2:206921218G>A	uc002vaz.4	-	3	1073	c.668C>T	c.(667-669)gCg>gTg	p.A223V		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	Homo sapiens INO80 complex subunit D (INO80D), mRNA.	223					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						CTGCGGTGGCGCTGGAGGTTT	0.562													7	16					0	0	1	0	0	A	206921218	G	A	206921218	3	1	166	1	0	0	0	0	1	0	0	0	7749	1087	38	1	2447	1	INO80D	2	206921218	Missense_Mutation	SNP	G	TCGA-HT-7473-01A-11D-2024-08	36256202	206921218	36278155	3	7385											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								26	37					0	0	1	0	0	T	209113112	C	T	209113112	3	4	166	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7473-01A-11D-2024-08	2191894	209113112	34086261	4	7386											
UGT2B10	7365	broad.mit.edu	37	chr4	69870621	69870621	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctagcgaacttccagaaacAaaacagacaacactttgtga	17	8	6	10	1	1	3	0	1	1	2	2	4	2	3	1	0	5	0	1	0	6	3			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr4:69870621A>T	uc011cao.1	-	7	1534	c.1408T>A	c.(1408-1410)Tgt>Agt	p.C470S	UGT2B10_uc011can.1_Missense_Mutation_p.C386S			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	514					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TTCCAGAAACAAAACAGACAA	0.418													35	43					0	0	1	0	0	T	69870621	A	T	69870621	3	4	166	1	0	0	0	0	1	0	0	0	16953	130	5	5	1661	5	UGT2B10	4	69870621	Missense_Mutation	SNP	A	TCGA-HT-7473-01A-11D-2024-08		69870621	121283655	5	7387											
TBX18	9096	broad.mit.edu	37	chr6	85448225	85448225	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagttaccttgcttgggAattccagggatatcttcaaa	10	14	10	7	0	2	1	1	1	1	0	3	3	3	3	2	2	2	2	2	2	4	6			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr6:85448225A>T	uc003pkl.1	-	6	1089	c.1089T>A	c.(1087-1089)atT>atA	p.I363I	TBX18_uc010kbq.2_Silent_p.I205I	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	363					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CTTGCTTGGGAATTCCAGGGA	0.438													66	122					0	0	1	0	0	T	85448225	A	T	85448225	2	4	166	1	0	0	0	0	0	0	0	1	15650	242	9	5		5	TBX18	6	85448225	Silent	SNP	A	TCGA-HT-7473-01A-11D-2024-08		85448225	85666842	6	7388											
TTYH3	80727	broad.mit.edu	37	chr7	2696109	2696109	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggccctcttctccttcgtCacagccctcatgttcagctc	4	13	6	18	1	5	0	3	0	2	0	8	0	5	0	3	1	2	2	3	1	0	3			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr7:2696109C>G	uc003smp.3	+	10	1378	c.1191C>G	c.(1189-1191)gtC>gtG	p.V397V	TTYH3_uc010ksn.3_Silent_p.V117V|TTYH3_uc003smq.3_Silent_p.V226V	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN	Homo sapiens tweety homolog 3 (Drosophila) (TTYH3), mRNA.	397						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		TCTCCTTCGTCACAGCCCTCA	0.642													11	91					0	0	1	0	0	G	2696109	C	G	2696109	2	3	166	1	0	0	0	0	0	0	0	1	16738	813	29	5		5	TTYH3	7	2696109	Silent	SNP	C	TCGA-HT-7473-01A-11D-2024-08		2696109	156442554	7	7389											
CALCR	799	broad.mit.edu	37	chr7	93072938	93072938	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcccaagagataataccaCcgcaagcgttgcttctcagt	12	8	8	13	2	1	1	1	0	1	1	2	2	1	1	3	0	4	3	3	0	4	4	rs149950588		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr7:93072938C>G	uc003umv.2	-	10	1182	c.882G>C	c.(880-882)cgG>cgC	p.R294R	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Silent_p.R260R|CALCR_uc003umw.2_Silent_p.R260R	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	276					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	p.R260R(1)|p.R294R(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GATAATACCACCGCAAGCGTT	0.443													24	58					0	0	1	0	0	G	93072938	C	G	93072938	2	3	166	1	0	0	0	0	0	0	0	1	2579	494	18	5		5	CALCR	7	93072938	Silent	SNP	C	TCGA-HT-7473-01A-11D-2024-08	90376829	93072938	66065725	8	7390											
AGFG2	3268	broad.mit.edu	37	chr7	100137017	100137018	+	Frame_Shift_Ins	INS	-	-	G																															gcccgggcggcggggtcagcINSgggggcaaggcggaggcgga																										TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr7:100137017_100137018insG	uc003uvf.3	+	0	184_185	c.48_49insG	c.(46-51)agcgggfs	p.S16fs	AGFG2_uc003uvg.1_Frame_Shift_Ins_p.S16fs	NM_006076	NP_006067	O95081	AGFG2_HUMAN	Homo sapiens ArfGAP with FG repeats 2 (AGFG2), mRNA.	16					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						gcggggtcagcgggggcaaggc	0.733													2	4	---	---	---	---						G	100137018	-	G	100137017	7	5	166	1	0	1	1	0	0	0	0	0	381	767	27	0	50	0	AGFG2	7	100137017	Frame_Shift_Ins	INS	-	TCGA-HT-7473-01A-11D-2024-08	7064079	100137017	59001646	9	7391											
DMBT1	1755	broad.mit.edu	37	chr10	124390734	124390734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccactctctggcagtgcCggaaccgaggctggttctcc	7	9	11	14	2	2	0	0	0	2	0	5	2	3	1	4	4	2	3	4	4	2	1			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr10:124390734C>T	uc001lgk.1	+	45	6002	c.5896C>T	c.(5896-5898)Cgg>Tgg	p.R1966W	DMBT1_uc001lgl.1_Missense_Mutation_p.R1956W|DMBT1_uc001lgm.1_Missense_Mutation_p.R1338W|DMBT1_uc021qaf.1_Missense_Mutation_p.R1966W|DMBT1_uc021qag.1_Missense_Mutation_p.R1956W|DMBT1_uc021qah.1_Missense_Mutation_p.R1338W|DMBT1_uc009xzz.1_Missense_Mutation_p.R1966W|DMBT1_uc010qtx.1_Missense_Mutation_p.R686W|DMBT1_uc009yab.1_Missense_Mutation_p.R669W|DMBT1_uc009yac.1_Missense_Mutation_p.R260W	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1966	SRCR 14.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTGGCAGTGCCGGAACCGAGG	0.542													29	31					0	0	1	0	0	T	124390734	C	T	124390734	3	4	166	1	0	0	0	0	1	0	0	0	4577	643	23	2	6078	2	DMBT1	10	124390734	Missense_Mutation	SNP	C	TCGA-HT-7473-01A-11D-2024-08		124390734	11144013	10	7392											
NLRP6	171389	broad.mit.edu	37	chr11	281637	281637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcaggaggacgcgtttgtgCgccaagccctgtgccggttc	5	8	15	13	5	0	0	0	0	0	0	1	2	0	2	3	3	3	3	3	3	1	2			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr11:281637C>T	uc010qvs.2	+	3	1903	c.1903C>T	c.(1903-1905)Cgc>Tgc	p.R635C	NLRP6_uc010qvt.2_Missense_Mutation_p.R635C	NM_138329	NP_612202	P59044	NALP6_HUMAN	Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.	635						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGCGTTTGTGCGCCAAGCCCT	0.647													31	81					0	0	1	0	0	T	281637	C	T	281637	3	4	166	1	0	0	0	0	1	0	0	0	10481	768	27	1	1917	1	NLRP6	11	281637	Missense_Mutation	SNP	C	TCGA-HT-7473-01A-11D-2024-08		281637	134724879	11	7393											
EXPH5	23086	broad.mit.edu	37	chr11	108381471	108381471	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgtgtttaactgaagatCtattttccccctttactagg	9	17	6	9	0	2	2	0	1	2	1	3	2	3	2	2	1	2	1	2	1	5	8			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr11:108381471C>A	uc001pkk.3	-	5	4874	c.4763G>T	c.(4762-4764)aGa>aTa	p.R1588I	EXPH5_uc010rvz.2_Missense_Mutation_p.R1432I|EXPH5_uc010rvy.2_Missense_Mutation_p.R1400I	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1588					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AACTGAAGATCTATTTTCCCC	0.423													40	96					1.15505e-17	1.36895e-17	1	1	0	A	108381471	C	A	108381471	3	1	166	1	0	0	0	0	1	0	0	0	5322	913	32	5	1210	5	EXPH5	11	108381471	Missense_Mutation	SNP	C	TCGA-HT-7473-01A-11D-2024-08	108099834	108381471	26625045	12	7394											
HTR3B	9177	broad.mit.edu	37	chr11	113815382	113815382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcctccatgatgagcagcGtggtggacaggagcagccct	9	8	13	11	1	0	2	0	2	0	0	2	4	2	4	3	3	4	2	3	3	0	1	rs151297148	by1000genomes	TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr11:113815382G>A	uc001pok.3	+	7	1133	c.995G>A	c.(994-996)cGt>cAt	p.R332H	HTR3B_uc001pol.3_Missense_Mutation_p.R321H	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	332					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		GATGAGCAGCGTGGTGGACAG	0.557													4	73					0	0	1	0	0	A	113815382	G	A	113815382	3	1	166	1	0	0	0	0	1	0	0	0	7445	1145	40	1	1025	1	HTR3B	11	113815382	Missense_Mutation	SNP	G	TCGA-HT-7473-01A-11D-2024-08	5433911	113815382	21191134	13	7395											
CRADD	8738	broad.mit.edu	37	chr12	94243956	94243956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcatccgttggcggcagcGcttcgggaagcaggccacct	6	8	13	14	4	1	0	1	0	0	0	3	1	2	1	3	4	2	4	3	4	1	3	rs141179774	byFrequency	TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr12:94243956G>A	uc001tda.3	+	2	613	c.509G>A	c.(508-510)cGc>cAc	p.R170H	CRADD_uc010sur.1_Intron|CRADD_uc010sus.1_Intron	NM_003805	NP_003796	P78560	CRADD_HUMAN	Homo sapiens CASP2 and RIPK1 domain containing adaptor with death domain (CRADD), mRNA.	170	Death.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						TGGCGGCAGCGCTTCGGGAAG	0.637													22	27					0	0	1	0	0	A	94243956	G	A	94243956	3	1	166	1	0	0	0	0	1	0	0	0	3845	1087	38	1	515	1	CRADD	12	94243956	Missense_Mutation	SNP	G	TCGA-HT-7473-01A-11D-2024-08		94243956	39607939	14	7396											
LRRC43	254050	broad.mit.edu	37	chr12	122685392	122685392	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggggcctggtgatcctggagCccctgctcgccggggagccc	3	6	17	15	2	0	1	0	1	0	0	2	3	1	3	6	6	3	1	6	6	0	0			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr12:122685392C>A	uc009zxm.3	+	9	1745	c.1720C>A	c.(1720-1722)Ccc>Acc	p.P574T	LRRC43_uc001ubw.4_Missense_Mutation_p.P389T|LRRC43_uc009zxn.3_Missense_Mutation_p.P335T|B3GNT4_uc001ubx.3_5'Flank|B3GNT4_uc001uby.3_5'Flank	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	574										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GATCCTGGAGCCCCTGCTCGC	0.667													26	36					4.72057e-08	5.39494e-08	1	1	0	A	122685392	C	A	122685392	3	1	166	1	0	0	0	0	1	0	0	0	9001	739	26	5	1758	5	LRRC43	12	122685392	Missense_Mutation	SNP	C	TCGA-HT-7473-01A-11D-2024-08	28441436	122685392	11166503	15	7397											
ZZEF1	23140	broad.mit.edu	37	chr17	3999148	3999148	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttttacaaattgcctgagCtcctgaagcttccatttgtc	8	16	6	11	0	0	2	0	2	0	0	3	2	2	2	3	0	4	2	3	0	3	6			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr17:3999148C>A	uc002fxe.3	-	10	1954	c.1890G>T	c.(1888-1890)gaG>gaT	p.E630D	ZZEF1_uc002fxk.1_Missense_Mutation_p.E630D	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	630							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ATTGCCTGAGCTCCTGAAGCT	0.333													4	45					0.014758	0.0162847	1	1	0	A	3999148	C	A	3999148	3	1	166	1	0	0	0	0	1	0	0	0	18252	796	28	5	7175	5	ZZEF1	17	3999148	Missense_Mutation	SNP	C	TCGA-HT-7473-01A-11D-2024-08		3999148	77196062	16	7398											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			17	5					0	0	1	0	0	A	7577121	G	A	7577121	3	1	166	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-7473-01A-11D-2024-08	3577973	7577121	73618089	17	7399											
KLHL14	57565	broad.mit.edu	37	chr18	30349853	30349853	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctggaagagcgccagctcCgactccacggggggcggcag	8	4	16	13	4	1	1	0	0	1	1	3	3	3	2	3	5	2	2	3	5	1	0			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr18:30349853C>T	uc002kxm.1	-	1	1090	c.702G>A	c.(700-702)tcG>tcA	p.S234S		NM_020805	NP_065856	Q9P2G3	KLH14_HUMAN	Homo sapiens kelch-like 14 (Drosophila) (KLHL14), mRNA.	234	BACK.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GCGCCAGCTCCGACTCCACGG	0.652													15	22					0	0	1	0	0	T	30349853	C	T	30349853	2	4	166	1	0	0	0	0	0	0	0	1	8370	639	23	2		2	KLHL14	18	30349853	Silent	SNP	C	TCGA-HT-7473-01A-11D-2024-08		30349853	47727395	18	7400											
C19orf53	28974	broad.mit.edu	37	chr19	13888924	13888924	+	Missense_Mutation	SNP	G	G	A																															cgtggtgatgaaagccagcaGcagcctgcccaagaagctgg																										TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr19:13888924G>A	uc002mxg.3	+	2	247	c.212G>A	c.(211-213)aGc>aAc	p.S71N		NM_014047	NP_054766	Q9UNZ5	L10K_HUMAN	Homo sapiens chromosome 19 open reading frame 53 (C19orf53), mRNA.	71										breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			AAAGCCAGCAGCAGCCTGCCC	0.597													4	72					0	0	1	0	0	A	13888924	G	A	13888924	3	1	166	1	0	0	0	0	1	0	0	0	1935	971	34	3	222	3	C19orf53	19	13888924	Missense_Mutation	SNP	G	TCGA-HT-7473-01A-11D-2024-08		13888924	45240059	19	7401	29	2									
C19orf53	28974	broad.mit.edu	37	chr19	13888925	13888925	+	Missense_Mutation	SNP	C	C	A																															gtggtgatgaaagccagcagCagcctgcccaagaagctggc																										TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr19:13888925C>A	uc002mxg.3	+	2	248	c.213C>A	c.(211-213)agC>agA	p.S71R		NM_014047	NP_054766	Q9UNZ5	L10K_HUMAN	Homo sapiens chromosome 19 open reading frame 53 (C19orf53), mRNA.	71										breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			AAGCCAGCAGCAGCCTGCCCA	0.602													4	73					0.184627	0.190583	1	1	0	A	13888925	C	A	13888925	3	1	166	1	0	0	0	0	1	0	0	0	1935	709	25	5	223	5	C19orf53	19	13888925	Missense_Mutation	SNP	C	TCGA-HT-7473-01A-11D-2024-08	1	13888925	45240058	20	7402	29	2									
CYP4F3	4051	broad.mit.edu	37	chr19	15752394	15752394	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttcccgcaacccccgaaaCggaattggttcttgggtcac	8	10	10	13	3	2	0	1	0	1	0	3	2	3	1	3	3	2	3	3	3	3	4	rs138587161		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr19:15752394C>T	uc010xok.2	+	1	219	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	CYP4F3_uc010xol.2_Missense_Mutation_p.R57W|CYP4F3_uc002nbj.3_Missense_Mutation_p.R57W|CYP4F3_uc010xom.2_5'UTR|CYP4F3_uc002nbk.3_Missense_Mutation_p.R57W	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	57					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						ACCCCCGAAACGGAATTGGTT	0.622													6	59					0	0	1	0	0	T	15752394	C	T	15752394	3	4	166	1	0	0	0	0	1	0	0	0	4190	527	19	1	171	1	CYP4F3	19	15752394	Missense_Mutation	SNP	C	TCGA-HT-7473-01A-11D-2024-08	1863469	15752394	43376589	21	7403											
PMEPA1	56937	broad.mit.edu	37	chr20	56284580	56284580	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagttgcacgtgcaggagAcattgggctgcccggcggcg	6	7	17	11	4	0	1	0	0	0	1	0	2	0	1	1	4	4	5	1	4	0	2			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr20:56284580A>G	uc002xyq.3	-	0	452	c.59T>C	c.(58-60)gTc>gCc	p.V20A	PMEPA1_uc002xyr.3_Intron|PMEPA1_uc002xys.3_Intron|PMEPA1_uc002xyt.3_Intron|AK056098_uc002xyu.1_5'Flank	NM_020182	NP_954640	Q969W9	PMEPA_HUMAN	Homo sapiens prostate transmembrane protein, androgen induced 1 (PMEPA1), transcript variant 1, mRNA.	20					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						CGTGCAGGAGACATTGGGCTg	0.721													2	4					0	0	1	0	0	G	56284580	A	G	56284580	3	3	166	1	0	0	0	0	1	0	0	0	12132	275	10	3	820	3	PMEPA1	20	56284580	Missense_Mutation	SNP	A	TCGA-HT-7473-01A-11D-2024-08		56284580	6740940	22	7404											
ATRX	546	broad.mit.edu	37	chrX	76938452	76938453	+	Frame_Shift_Ins	INS	-	-	T																															cccgcctgagtctttaaatcINSatacaaagtcttatggtttg																										TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chrX:76938452_76938453insT	uc004ecp.4	-	8	2527_2528	c.2295_2296insA	c.(2293-2298)tatgatfs	p.Y765fs	ATRX_uc004ecq.4_Frame_Shift_Ins_p.Y727fs|ATRX_uc004eco.4_Frame_Shift_Ins_p.Y550fs|ATRX_uc004ecr.2_Frame_Shift_Ins_p.Y697fs|ATRX_uc010nlx.1_Frame_Shift_Ins_p.Y736fs|ATRX_uc010nly.1_Frame_Shift_Ins_p.Y710fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	765					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GTCTTTAAATCATACAAAGTCT	0.356			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						83	38	---	---	---	---						T	76938453	-	T	76938452	7	5	166	1	0	1	1	0	0	0	0	0	1208	826	29	0	5290	0	ATRX	23	76938452	Frame_Shift_Ins	INS	-	TCGA-HT-7473-01A-11D-2024-08		76938452	78332108	23	7405											
TNN	63923	broad.mit.edu	37	chr1	175048764	175048764	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgagaagcgctgtcccggCgactgcagcggccacggctt	7	5	15	14	6	0	1	0	0	0	1	1	3	1	1	2	3	4	3	2	3	1	1			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr1:175048764C>T	uc001gkl.1	+	2	818	c.705C>T	c.(703-705)ggC>ggT	p.G235G	TNN_uc010pmx.1_Silent_p.G235G	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	235	EGF-like 3.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCTGTCCCGGCGACTGCAGCG	0.667													11	9					0	0	0.080935	0	0	T	175048764	C	T	175048764	2	4	167	1	0	0	0	0	0	0	0	1	16320	755	27	1		1	TNN	1	175048764	Silent	SNP	C	TCGA-HT-7474-01A-11D-2024-08		175048764	74201857	1	7406											
AFF3	3899	broad.mit.edu	37	chr2	100218011	100218013	+	In_Frame_Del	DEL	GCT	GCT	-																															ctggaggagctgctgctgccGctgctgctgctgctgctgct																										TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:100218011_100218013delGCT	uc002taf.3	-	12	1474_1476	c.1330_1332delAGC	c.(1330-1332)agcdel	p.S444del	AFF3_uc002tag.3_In_Frame_Del_p.S419del|AFF3_uc010fiq.1_In_Frame_Del_p.S419del|AFF3_uc010yvr.1_In_Frame_Del_p.S572del|AFF3_uc002tah.1_In_Frame_Del_p.S444del	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	419	Poly-Ser.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						tgctgctgccgctgctgctgctg	0.685													3	6	---	---	---	---						-	100218013	GCT	-	100218011	7	5	167	1	0	1	0	1	0	0	0	0	358	1078	38	0	2471	0	AFF3	2	100218011	In_Frame_Del	DEL	GCT	TCGA-HT-7474-01A-11D-2024-08		100218011	142981362	2	7407											
SSB	6741	broad.mit.edu	37	chr2	170667377	170667377	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctggtataggggataattCtatttaaagaaaaagccaag	16	11	9	5	0	2	1	0	0	2	1	2	2	2	2	1	3	1	1	1	3	9	7			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:170667377C>T	uc002ufk.3	+	9	994	c.820C>T	c.(820-822)Cta>Tta	p.L274L	SSB_uc002ufm.3_Silent_p.L274L	NM_003142	NP_003133	P05455	LA_HUMAN	Homo sapiens Sjogren syndrome antigen B (autoantigen La) (SSB), mRNA.	274					histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GGGGATAATTCTATTTAAAGA	0.353													19	43					0	0	0.062417	0	0	T	170667377	C	T	170667377	2	4	167	1	0	0	0	0	0	0	0	1	15177	912	32	3		3	SSB	2	170667377	Silent	SNP	C	TCGA-HT-7474-01A-11D-2024-08	70449366	170667377	72531996	3	7408											
TTN	7273	broad.mit.edu	37	chr2	179569078	179569078	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaattggcatgtcatggTgcaagtctggccttctttca	10	13	10	8	0	4	1	2	0	2	1	4	1	4	1	1	3	1	2	1	3	3	3			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:179569078T>C	uc021vsy.1	-	102	26512	c.26287A>G	c.(26287-26289)Acc>Gcc	p.T8763A	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T5424A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9690	Ig-like 70.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGTCATGGTGCAAGTCTGG	0.423													21	136					0	0	0.055883	0	0	C	179569078	T	C	179569078	3	2	167	1	0	0	0	0	1	0	0	0	16732	1696	59	3	74538	3	TTN	2	179569078	Missense_Mutation	SNP	T	TCGA-HT-7474-01A-11D-2024-08	8901701	179569078	63630295	4	7409											
TTN	7273	broad.mit.edu	37	chr2	179641669	179641669	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacatttactttgcatcttGtagtgtctctgccagcttta	8	17	6	10	0	2	0	0	0	2	0	3	0	2	0	1	0	5	3	1	0	4	7			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:179641669G>T	uc021vsy.1	-	27	5147	c.4922C>A	c.(4921-4923)aCa>aAa	p.T1641K	TTN_uc021vsz.1_Missense_Mutation_p.T1595K|TTN_uc021vta.1_Missense_Mutation_p.T1595K|TTN_uc021vtb.1_Missense_Mutation_p.T1595K|TTN_uc002unb.2_Missense_Mutation_p.T1641K|AK123298_uc002unc.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1641	Ig-like 7.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGCATCTTGTAGTGTCTCT	0.463													8	56					0.000157383	0.000172614	0.038147	1	0	T	179641669	G	T	179641669	3	4	167	1	0	0	0	0	1	0	0	0	16732	1377	48	5	106406	5	TTN	2	179641669	Missense_Mutation	SNP	G	TCGA-HT-7474-01A-11D-2024-08	72591	179641669	63557704	5	7410											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								22	39					0	0	0.069288	0	0	T	209113112	C	T	209113112	3	4	167	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7474-01A-11D-2024-08	29471443	209113112	34086261	6	7411											
MTERFD2	130916	broad.mit.edu	37	chr2	242039161	242039161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagttattggatctaacaCaagataactcctcaatgacc	15	11	5	10	0	2	2	1	1	1	1	3	3	3	3	2	1	2	1	2	1	6	5			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:242039161C>T	uc002wan.1	-	0	750	c.257G>A	c.(256-258)tGt>tAt	p.C86Y	MTERFD2_uc010zoj.1_Intron|MTERFD2_uc010zok.1_Missense_Mutation_p.C57Y	NM_182501	NP_872307	Q7Z6M4	MTER2_HUMAN	Homo sapiens MTERF domain containing 2 (MTERFD2), transcript variant 1, mRNA.	57										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		GGATCTAACACAAGATAACTC	0.498													12	82					0	0	0.020292	0	0	T	242039161	C	T	242039161	3	4	167	1	0	0	0	0	1	0	0	0	9920	478	17	3	987	3	MTERFD2	2	242039161	Missense_Mutation	SNP	C	TCGA-HT-7474-01A-11D-2024-08	32926049	242039161	1160212	7	7412											
GABRB1	2560	broad.mit.edu	37	chr4	47427857	47427857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccgcgaggcctacgggcGcgccctggaccggcacgggg	5	2	18	16	7	0	0	0	0	0	0	0	2	0	1	4	6	2	1	4	6	1	1			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr4:47427857G>A	uc003gxh.3	+	8	1621	c.1247G>A	c.(1246-1248)cGc>cAc	p.R416H	GABRB1_uc011bze.2_Missense_Mutation_p.R346H	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	416					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GCCTACGGGCGCGCCCTGGAC	0.642													16	48					0	0	0.0333	0	0	A	47427857	G	A	47427857	3	1	167	1	0	0	0	0	1	0	0	0	6166	1087	38	1	1281	1	GABRB1	4	47427857	Missense_Mutation	SNP	G	TCGA-HT-7474-01A-11D-2024-08		47427857	143726419	8	7413											
GK2	2712	broad.mit.edu	37	chr4	80327819	80327819	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagactgactggtaacccaAcccattgacttcattacggc	11	9	9	12	1	1	3	1	2	0	1	1	4	1	3	2	3	3	1	2	3	3	4			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr4:80327819A>G	uc003hlu.3	-	0	1554	c.1536T>C	c.(1534-1536)ggT>ggC	p.G512G		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	512					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TGGTAACCCAACCCATTGACT	0.438													27	77					0	0	0.030593	0	0	G	80327819	A	G	80327819	2	3	167	1	0	0	0	0	0	0	0	1	6421	30	2	3		3	GK2	4	80327819	Silent	SNP	A	TCGA-HT-7474-01A-11D-2024-08	32899962	80327819	110826457	9	7414											
ACSL6	23305	broad.mit.edu	37	chr5	131329917	131329917	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggatctcctgtgtctgcAtcttctccagaagtgagagg	8	12	11	10	0	5	2	1	1	4	2	7	4	5	3	2	2	1	1	2	2	1	1			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr5:131329917A>G	uc003kvx.2	-	1	186	c.77T>C	c.(76-78)aTg>aCg	p.M26T	ACSL6_uc003kvv.1_Non-coding_Transcript|ACSL6_uc003kwb.3_Missense_Mutation_p.M26T|ACSL6_uc003kvy.2_Missense_Mutation_p.M26T|ACSL6_uc003kvz.2_Missense_Mutation_p.M1T|ACSL6_uc021ydh.1_Missense_Mutation_p.M1T|ACSL6_uc010jdo.2_Missense_Mutation_p.M1T|ACSL6_uc003kwa.2_Missense_Mutation_p.M12T|ACSL6_uc003kwc.1_Missense_Mutation_p.M1T|ACSL6_uc003kwd.1_Missense_Mutation_p.M1T|ACSL6_uc010jdn.2_Missense_Mutation_p.M1T	NM_015256	NP_001192177	Q9UKU0	ACSL6_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 6 (ACSL6), transcript variant 1, mRNA.	1					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGTGTCTGCATCTTCTCCAG	0.547													8	12					0	0	0.058154	0	0	G	131329917	A	G	131329917	3	3	167	1	0	0	0	0	1	0	0	0	181	217	8	3	2253	3	ACSL6	5	131329917	Missense_Mutation	SNP	A	TCGA-HT-7474-01A-11D-2024-08		131329917	49585343	10	7415											
OR2J3	442186	broad.mit.edu	37	chr6	29080500	29080500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agatcaaggcaagttcattgCcctcttttatactgttgtca	10	15	7	9	0	4	1	3	0	1	1	4	1	4	1	1	1	2	3	1	1	4	6			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr6:29080500C>T	uc011dll.2	+	0	833	c.833C>T	c.(832-834)gCc>gTc	p.A278V		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						AAGTTCATTGCCCTCTTTTAT	0.448													4	55					0	0	0.009096	0	0	T	29080500	C	T	29080500	3	4	167	1	0	0	0	0	1	0	0	0	11004	739	26	3	835	3	OR2J3	6	29080500	Missense_Mutation	SNP	C	TCGA-HT-7474-01A-11D-2024-08		29080500	142034567	11	7416											
NOTCH4	4855	broad.mit.edu	37	chr6	32188188	32188188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctacccccatacctgtgcGtccaggtgggcagaggcagg	7	7	13	14	1	1	1	0	0	1	1	2	1	2	1	4	4	3	2	4	4	2	2			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr6:32188188G>A	uc003obb.3	-	5	1292	c.1153C>T	c.(1153-1155)Cgc>Tgc	p.R385C	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.R385C	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	385	EGF-like 9; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ATACCTGTGCGTCCAGGTGGG	0.592													7	131					0	0	0.02938	0	0	A	32188188	G	A	32188188	3	1	167	1	0	0	0	0	1	0	0	0	10551	1145	40	1	4958	1	NOTCH4	6	32188188	Missense_Mutation	SNP	G	TCGA-HT-7474-01A-11D-2024-08	3107688	32188188	138926879	12	7417											
ZPBP	11055	broad.mit.edu	37	chr7	49977166	49977166	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacaccaggctgctattgcaTtgaaggcaatgaattccatc	12	11	8	10	0	0	2	0	2	0	0	2	2	1	2	2	2	3	4	2	2	5	5	rs138428432		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr7:49977166T>C	uc003tou.3	-	7	1084	c.1014A>G	c.(1012-1014)caA>caG	p.Q338Q	ZPBP_uc010kyw.3_Silent_p.Q337Q	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.	338					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TGCTATTGCATTGAAGGCAAT	0.343													36	74					0	0	0.092188	0	0	C	49977166	T	C	49977166	2	2	167	1	0	0	0	0	0	0	0	1	18216	1490	52	3		3	ZPBP	7	49977166	Silent	SNP	T	TCGA-HT-7474-01A-11D-2024-08		49977166	109161497	13	7418											
TAS2R16	50833	broad.mit.edu	37	chr7	122635637	122635637	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacaataattgtcaaggActcaagcacatagatgatca	16	9	7	9	0	3	2	3	1	0	1	3	3	3	3	0	1	2	2	0	1	5	3			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr7:122635637A>G	uc003vkl.1	-	0	118	c.52T>C	c.(52-54)Tcc>Ccc	p.S18P		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	Homo sapiens taste receptor, type 2, member 16 (TAS2R16), mRNA.	18					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	p.E17Q(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATTGTCAAGGACTCAAGCACA	0.453													15	48					0	0	0.028581	0	0	G	122635637	A	G	122635637	3	3	167	1	0	0	0	0	1	0	0	0	15566	275	10	3	827	3	TAS2R16	7	122635637	Missense_Mutation	SNP	A	TCGA-HT-7474-01A-11D-2024-08	72658471	122635637	36503026	14	7419											
PAPPA	5069	broad.mit.edu	37	chr9	119139910	119139910	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccctgctctgattcactGtgtcaaaggctgtgaggtga	8	12	11	10	0	4	3	3	3	1	0	4	3	4	3	1	2	1	2	1	2	1	1			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr9:119139910G>C	uc004bjn.3	+	19	5042	c.4661G>C	c.(4660-4662)tGt>tCt	p.C1554S	PAPPA_uc011lxq.2_Missense_Mutation_p.C929S	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1554	Sushi 5.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTGATTCACTGTGTCAAAGGC	0.473													16	28					0	0	0.024245	0	0	C	119139910	G	C	119139910	3	2	167	1	0	0	0	0	1	0	0	0	11432	1377	48	5	4739	5	PAPPA	9	119139910	Missense_Mutation	SNP	G	TCGA-HT-7474-01A-11D-2024-08		119139910	22073521	15	7420											
SOHLH1	402381	broad.mit.edu	37	chr9	138588581	138588581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgcaaggatgtgcggcaCgggctctgggctggccgacg	6	5	19	11	5	1	0	0	0	1	0	1	3	1	2	1	6	1	4	1	6	1	0	rs138843804		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr9:138588581C>T	uc010nbe.3	-	4	599	c.538G>A	c.(538-540)Gtg>Atg	p.V180M	SOHLH1_uc004cgl.3_Missense_Mutation_p.V180M	NM_001101677	NP_001095147	Q5JUK2	SOLH1_HUMAN	Homo sapiens spermatogenesis and oogenesis specific basic helix-loop-helix 1 (SOHLH1), transcript variant 1, mRNA.	180					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		ATGTGCGGCACGGGCTCTGGG	0.632													4	61					0	0	0.02938	0	0	T	138588581	C	T	138588581	3	4	167	1	0	0	0	0	1	0	0	0	14923	536	19	1	682	1	SOHLH1	9	138588581	Missense_Mutation	SNP	C	TCGA-HT-7474-01A-11D-2024-08	19448671	138588581	2624850	16	7421											
INPP5A	3632	broad.mit.edu	37	chr10	134521843	134521843	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtcaagaaaaggcttcatCcggacgaggtggtgcattgc	10	9	14	8	2	2	1	2	0	0	1	3	3	3	2	1	5	2	2	1	5	3	2			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr10:134521843C>A	uc001llp.3	+	6	749	c.501C>A	c.(499-501)atC>atA	p.I167I	INPP5A_uc001llo.1_Silent_p.I167I|INPP5A_uc001llq.3_Silent_p.I119I	NM_005539	NP_005530	Q14642	I5P1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 40kDa (INPP5A), mRNA.	167				PQDYFPECKWSRKGFIRTRWC -> RRLLPRVQMVKKRLHP DEVV (in Ref. 5; CAA83500).	cell communication	membrane	PH domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		AAGGCTTCATCCGGACGAGGT	0.463													6	26					0.00307968	0.003173	0.038147	1	0	A	134521843	C	A	134521843	2	1	167	1	0	0	0	0	0	0	0	1	7754	845	30	5		5	INPP5A	10	134521843	Silent	SNP	C	TCGA-HT-7474-01A-11D-2024-08		134521843	1012904	17	7422											
SIK3	23387	broad.mit.edu	37	chr11	116719848	116719848	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacatacataagcatcgtcGctgttctggatcgtgtggtg	9	12	11	9	3	1	0	0	0	1	0	4	1	1	1	0	2	3	3	0	2	3	3			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr11:116719848G>A	uc001ppy.3	-	20	3525	c.3489C>T	c.(3487-3489)agC>agT	p.S1163S	SIK3_uc001ppz.3_Silent_p.S1002S|SIK3_uc001pqa.3_Silent_p.S1103S|SIK3_uc001ppw.3_Silent_p.S520S|SIK3_uc001ppx.3_Silent_p.S541S	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	1163						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.S1162*(2)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						AAGCATCGTCGCTGTTCTGGA	0.597													7	63					0	0	0.038147	0	0	A	116719848	G	A	116719848	2	1	167	1	0	0	0	0	0	0	0	1	14319	1078	38	1		1	SIK3	11	116719848	Silent	SNP	G	TCGA-HT-7474-01A-11D-2024-08		116719848	18286668	18	7423											
FSIP1	161835	broad.mit.edu	37	chr15	39910298	39910305	+	Frame_Shift_Del	DEL	CTGGAAAG	CTGGAAAG	-																															gcaatttagagatgatggacCtggaaagctgggggaacaca																								rs34939408		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr15:39910298_39910305delCTGGAAAG	uc001zki.3	-	10	1548_1555	c.1330_1337delCTTTCCAG	c.(1330-1338)ctttccaggfs	p.L444fs		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	Homo sapiens fibrous sheath interacting protein 1 (FSIP1), mRNA.	444										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		GATGATGGACCTGGAAAGCTGGGGGAAC	0.38													21	94	---	---	---	---						-	39910305	CTGGAAAG	-	39910298	7	5	167	1	0	1	0	1	0	0	0	0	6074	681	24	0	416	0	FSIP1	15	39910298	Frame_Shift_Del	DEL	CTGGAAAG	TCGA-HT-7474-01A-11D-2024-08		39910298	62621094	19	7424											
RPUSD1	113000	broad.mit.edu	37	chr16	837118	837118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtgggcccggccctccGtgctgttcctgccaatggca	3	10	14	14	2	0	0	0	0	0	0	2	0	2	0	5	4	2	3	5	4	1	1	rs138346352		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr16:837118G>A	uc002cka.3	-	2	602	c.368C>T	c.(367-369)aCg>aTg	p.T123M	RPUSD1_uc002ckb.3_Missense_Mutation_p.T123M|CHTF18_uc010uus.1_5'Flank|CHTF18_uc010bre.1_5'Flank|CHTF18_uc002cke.4_5'Flank|CHTF18_uc002ckf.4_5'Flank|CHTF18_uc010brf.3_5'Flank|CHTF18_uc002ckg.4_5'Flank	NM_058192	NP_478072	Q9UJJ7	RUSD1_HUMAN	Homo sapiens RNA pseudouridylate synthase domain containing 1 (RPUSD1), mRNA.	123					pseudouridine synthesis		RNA binding|pseudouridine synthase activity			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				CCGGCCCTCCGTGCTGTTCCT	0.692													5	13					0	0	0.021553	0	0	A	837118	G	A	837118	3	1	167	1	0	0	0	0	1	0	0	0	13666	1145	40	1	582	1	RPUSD1	16	837118	Missense_Mutation	SNP	G	TCGA-HT-7474-01A-11D-2024-08		837118	89517635	20	7425											
SMPD3	55512	broad.mit.edu	37	chr16	68398674	68398674	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagaggagcagttatcaaagTtgaaatctccacagacgacg	15	7	10	9	2	2	3	1	1	1	2	3	5	2	4	1	1	1	3	1	1	3	2			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr16:68398674T>C	uc002ewa.3	-	4	1957	c.1535A>G	c.(1534-1536)aAc>aGc	p.N512S	SMPD3_uc010cfe.3_Missense_Mutation_p.N512S|SMPD3_uc010vlh.2_Missense_Mutation_p.N512S	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	512		Important for substrate recognition (By similarity).			cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GTTATCAAAGTTGAAATCTCC	0.572													6	48					0	0	0.02938	0	0	C	68398674	T	C	68398674	3	2	167	1	0	0	0	0	1	0	0	0	14806	1725	60	3	452	3	SMPD3	16	68398674	Missense_Mutation	SNP	T	TCGA-HT-7474-01A-11D-2024-08	67561556	68398674	21956079	21	7426											
TP53	7157	broad.mit.edu	37	chr17	7577138	7577138	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgcacctcaaagctgttcCgtcccagtagattaccacta	11	9	6	15	2	1	1	1	0	0	1	3	1	3	1	4	0	2	4	4	0	4	4			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr17:7577138C>G	uc002gim.2	-	7	994	c.800G>C	c.(799-801)cGg>cCg	p.R267P	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R267P|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R135P|TP53_uc010cnf.1_Missense_Mutation_p.R135P|TP53_uc002gii.1_Missense_Mutation_p.R135P|TP53_uc010cni.1_Missense_Mutation_p.R267P|TP53_uc010cnh.1_Missense_Mutation_p.R267P|TP53_uc002gij.2_Missense_Mutation_p.R267P|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.	267	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G266E(49)|p.G266R(45)|p.G266V(36)|p.R267P(32)|p.R267W(23)|p.R267Q(20)|p.G266*(13)|p.R267L(10)|p.0?(8)|p.G266fs*79(5)|p.R267R(5)|p.G262_F270delGNLLGRNSF(4)|p.G262_S269delGNLLGRNS(4)|p.G266_E271delGRNSFE(4)|p.N268fs*77(3)|p.?(3)|p.G266_N268delGRN(2)|p.G266A(2)|p.G266G(2)|p.L265_R267delLGR(2)|p.L265_K305del41(2)|p.G266fs*4(2)|p.G266T(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.G262fs*2(1)|p.R267G(1)|p.R267fs*78(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)		AAAGCTGTTCCGTCCCAGTAG	0.527		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)			22	6					0	0	0.069288	0	0	G	7577138	C	G	7577138	3	3	167	1	0	0	0	0	1	0	0	0	16378	652	23	5	486	5	TP53	17	7577138	Missense_Mutation	SNP	C	TCGA-HT-7474-01A-11D-2024-08		7577138	73618072	22	7427											
NINL	22981	broad.mit.edu	37	chr20	25436318	25436318	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatcactcacctgctccttCagcttatccactttctcttg	6	15	3	17	0	4	0	3	0	1	0	7	0	6	0	4	0	2	2	4	0	1	4			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr20:25436318C>T	uc002wux.1	-	22	4022	c.3948G>A	c.(3946-3948)ctG>ctA	p.L1316L	NINL_uc010gdn.1_Silent_p.L967L|NINL_uc002wuw.1_Silent_p.L107L	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	1316					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	p.L1316L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCTGCTCCTTCAGCTTATCCA	0.488													56	142					0	0	0.048971	0	0	T	25436318	C	T	25436318	2	4	167	1	0	0	0	0	0	0	0	1	10420	813	29	3		3	NINL	20	25436318	Silent	SNP	C	TCGA-HT-7474-01A-11D-2024-08		25436318	37589202	23	7428			1	15		2	2	85	C		7.054753e-05
NINL	22981	broad.mit.edu	37	chr20	25436402	25436402	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccgctcttctgtggctttCagctgtttctcatgttcttc	3	18	7	13	1	5	0	2	0	4	0	7	0	5	0	1	1	1	5	1	1	0	5			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr20:25436402C>T	uc002wux.1	-	22	3938	c.3864G>A	c.(3862-3864)ctG>ctA	p.L1288L	NINL_uc010gdn.1_Silent_p.L939L|NINL_uc002wuw.1_Silent_p.L79L	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	1288					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CTGTGGCTTTCAGCTGTTTCT	0.537													62	199					0	0	0.048971	0	0	T	25436402	C	T	25436402	2	4	167	1	0	0	0	0	0	0	0	1	10420	813	29	3		3	NINL	20	25436402	Silent	SNP	C	TCGA-HT-7474-01A-11D-2024-08	84	25436402	37589118	24	7429			1	15		2	2	85	C		7.054753e-05
TLR7	51284	broad.mit.edu	37	chrX	12906637	12906645	+	In_Frame_Del	DEL	CGGAAAAGG	CGGAAAAGG	-																															agtccaagttcctccagctcCggaaaaggctctgtgggagt																										TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chrX:12906637_12906645delCGGAAAAGG	uc004cvc.3	+	2	3149_3157	c.3010_3018delCGGAAAAGG	c.(3010-3018)cggaaaaggdel	p.RKR1004del		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	1004	TIR.				I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	CCTCCAGCTCCGGAAAAGGCTCTGTGGGA	0.474													41	68	---	---	---	---						-	12906645	CGGAAAAGG	-	12906637	7	5	167	1	0	1	0	1	0	0	0	0	15953	643	23	0	3016	0	TLR7	23	12906637	In_Frame_Del	DEL	CGGAAAAGG	TCGA-HT-7474-01A-11D-2024-08		12906637	142363923	25	7430											
ATRX	546	broad.mit.edu	37	chrX	76855981	76855982	+	Frame_Shift_Ins	INS	-	-	A																															ttaacatctgaaaatcttggINSaaaagctttgcacctgcctt																										TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chrX:76855981_76855982insA	uc004ecp.4	-	22	5850_5851	c.5618_5619insT	c.(5617-5619)ttcfs	p.F1873fs	ATRX_uc004ecq.4_Frame_Shift_Ins_p.F1835fs|ATRX_uc004eco.4_Frame_Shift_Ins_p.F1658fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1873					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GAAAATCTTGGAAAAGCTTTGC	0.361			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						88	76	---	---	---	---						A	76855982	-	A	76855981	7	5	167	1	0	1	1	0	0	0	0	0	1208	1165	41	0	1911	0	ATRX	23	76855981	Frame_Shift_Ins	INS	-	TCGA-HT-7474-01A-11D-2024-08	63949344	76855981	78414579	26	7431											
ATAD3B	83858	broad.mit.edu	37	chr1	1421533	1421533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgacatcgccatagcaaccaGgaacaccaagaagaaccggg	16	2	10	13	3	0	2	0	0	0	2	1	4	0	3	4	2	4	1	4	2	6	1			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr1:1421533G>A	uc001afv.3	+	9	1108	c.1007G>A	c.(1006-1008)aGg>aAg	p.R336K	ATAD3B_uc021oeq.1_5'UTR|ATAD3B_uc001afx.3_Missense_Mutation_p.R290K	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN	Homo sapiens ATPase family, AAA domain containing 3B (ATAD3B), nuclear gene encoding mitochondrial protein, mRNA.	336							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ATAGCAACCAGGAACACCAAG	0.642													35	70					0	0	0.004878	0	0	A	1421533	G	A	1421533	3	1	168	1	0	0	0	0	1	0	0	0	1074	1000	35	3	1045	3	ATAD3B	1	1421533	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08		1421533	247829088	1	7432											
C1orf201	90529	broad.mit.edu	37	chr1	24727850	24727850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctgggatgtttgccagtgCgttcatttttctgtgcagag	5	16	13	7	1	3	1	1	0	2	1	3	2	3	2	1	1	3	3	1	1	0	4			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr1:24727850C>T	uc001bjc.3	-	1	196	c.29G>A	c.(28-30)cGc>cAc	p.R10H	C1orf201_uc001bjb.3_5'UTR|C1orf201_uc001bja.3_Missense_Mutation_p.A3T|C1orf201_uc001bjd.3_Missense_Mutation_p.R10H	NM_001199013	NP_001185942	Q5TH74	CA201_HUMAN	Homo sapiens chromosome 1 open reading frame 201 (C1orf201), transcript variant 1, mRNA.	10										breast(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	15		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0191)|all_lung(284;0.0251)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.056)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.48e-25)|Colorectal(126;7.29e-08)|COAD - Colon adenocarcinoma(152;3.85e-06)|GBM - Glioblastoma multiforme(114;0.000399)|BRCA - Breast invasive adenocarcinoma(304;0.00107)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00393)|READ - Rectum adenocarcinoma(331;0.0672)|Lung(427;0.145)		TTTGCCAGTGCGTTCATTTTT	0.418													18	22					0	0	0.007413	0	0	T	24727850	C	T	24727850	3	4	168	1	0	0	0	0	1	0	0	0	2027	768	27	1	884	1	C1orf201	1	24727850	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	23306317	24727850	224522771	2	7433											
CD1B	910	broad.mit.edu	37	chr1	158298711	158298711	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaccacccacaactcacCggcgcctcatataccataat	14	6	3	18	2	2	0	2	0	0	0	2	0	2	0	5	1	3	0	5	1	5	3			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr1:158298711C>T	uc001frx.3	-	5	1088	c.980_splice	c.e5+1	p.R327_splice	CD1B_uc001frw.3_Splice_Site_p.R272_splice	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	327					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					CACAACTCACCGGCGCCTCAT	0.388													12	47					0	0	0.001855	0	0	T	158298711	C	T	158298711	5	4	168	1	0	0	0	0	0	0	1	0	2975	666	23	2	29	2	CD1B	1	158298711	Splice_Site	SNP	C	TCGA-HT-7475-01A-11D-2024-08	133570861	158298711	90951910	3	7434											
UAP1	6675	broad.mit.edu	37	chr1	162557442	162557442	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttcttcactgtaccatttCtgagagatgttgtcaagtat	10	17	7	7	0	4	2	2	1	2	1	4	3	4	2	1	0	1	3	1	0	3	6			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr1:162557442C>T	uc001gce.4	+	5	1341	c.1012C>T	c.(1012-1014)Ctg>Ttg	p.L338L		NM_003115	NP_003106	Q16222	UAP1_HUMAN	Homo sapiens UDP-N-acteylglucosamine pyrophosphorylase 1 (UAP1), mRNA.	338					UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TGTACCATTTCTGAGAGATGT	0.433													60	165					0	0	0.01441	0	0	T	162557442	C	T	162557442	2	4	168	1	0	0	0	0	0	0	0	1	16822	912	32	3		3	UAP1	1	162557442	Silent	SNP	C	TCGA-HT-7475-01A-11D-2024-08	4258731	162557442	86693179	4	7435											
IL1RL1	9173	broad.mit.edu	37	chr2	102956649	102956649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attatttgatgtattcaacaGtatctggatcagaaaaaaat	17	14	6	4	0	3	2	2	1	1	1	3	3	3	3	0	1	1	2	0	1	7	5			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr2:102956649G>A	uc002tbu.1	+	3	635	c.364G>A	c.(364-366)Gta>Ata	p.V122I	IL1RL1_uc010ywa.2_Missense_Mutation_p.V5I|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Missense_Mutation_p.V122I	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	122	Ig-like C2-type 2.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						GTATTCAACAGTATCTGGATC	0.343													13	19					0	0	0.013537	0	0	A	102956649	G	A	102956649	3	1	168	1	0	0	0	0	1	0	0	0	7663	1029	36	3	374	3	IL1RL1	2	102956649	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08		102956649	140242724	5	7436											
SULT1C2	6819	broad.mit.edu	37	chr2	108921152	108921152	+	Frame_Shift_Del	DEL	A	A	-																															tttgaaaccttcatcaatggAaaaggtacgggaacatcctt																										TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr2:108921152delA	uc002tdy.3	+	4	951	c.498delA	c.(496-498)ggafs	p.G166fs	SULT1C2_uc010ywp.1_Frame_Shift_Del_p.G81fs|SULT1C2_uc010ywq.2_Frame_Shift_Del_p.G180fs|SULT1C2_uc002tdx.3_Frame_Shift_Del_p.G177fs	NM_001056	NP_001047	O00338	ST1C2_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 2 (SULT1C2), transcript variant 1, mRNA.	166					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TCATCAATGGAAAAGGTACGG	0.473													37	74	---	---	---	---						-	108921152	A	-	108921152	7	5	168	1	0	1	0	1	0	0	0	0	15374	233	9	0	611	0	SULT1C2	2	108921152	Frame_Shift_Del	DEL	A	TCGA-HT-7475-01A-11D-2024-08	5964503	108921152	134278221	6	7437											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								25	53					0	0	0.004656	0	0	T	209113112	C	T	209113112	3	4	168	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	100191960	209113112	34086261	7	7438											
PTH2R	5746	broad.mit.edu	37	chr2	209308141	209308141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcatgctgagagctacaaGcatctttgtcaaagacagag	13	11	9	8	0	3	3	2	1	1	3	3	4	3	3	0	0	4	3	0	0	3	3			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr2:209308141G>A	uc010zjb.2	+	5	897	c.611G>A	c.(610-612)aGc>aAc	p.S204N	PTH2R_uc002vdb.3_Missense_Mutation_p.S193N	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	193						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		AGAGCTACAAGCATCTTTGTC	0.403													26	40					0	0	0.003954	0	0	A	209308141	G	A	209308141	3	1	168	1	0	0	0	0	1	0	0	0	12760	971	34	3	600	3	PTH2R	2	209308141	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08	195029	209308141	33891232	8	7439											
ART3	419	broad.mit.edu	37	chr4	77018801	77018801	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatctttgtgtttcaggactAaaaaccgaaaactgtattga	14	14	7	6	1	2	1	1	1	1	0	2	3	2	2	1	1	2	2	1	1	7	6			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr4:77018801A>G	uc003hjo.3	+	3	920	c.786A>G	c.(784-786)ctA>ctG	p.L262L	ART3_uc003hjk.3_Silent_p.L262L|ART3_uc010ija.2_Silent_p.L262L|ART3_uc003hjn.3_Silent_p.L262L|ART3_uc003hjp.3_Non-coding_Transcript|ART3_uc010ijb.3_Intron|ART3_uc003hjq.3_Intron|ART3_uc003hjr.3_Silent_p.L232L|ART3_uc010ijc.3_Intron|ART3_uc010ijd.3_Silent_p.L232L	NM_001130016	NP_001123488	Q13508	NAR3_HUMAN	Homo sapiens ADP-ribosyltransferase 3 (ART3), transcript variant 1, mRNA.	262					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTTCAGGACTAAAAACCGAAA	0.323													18	51					0	0	0.014323	0	0	G	77018801	A	G	77018801	2	3	168	1	0	0	0	0	0	0	0	1	998	349	13	3		3	ART3	4	77018801	Silent	SNP	A	TCGA-HT-7475-01A-11D-2024-08		77018801	114135475	9	7440											
BMP2K	55589	broad.mit.edu	37	chr4	79793907	79793907	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctacacttcatcacttcCagctcaggttggaaccataa	11	12	5	13	0	3	0	3	0	0	0	5	1	5	1	3	2	3	2	3	2	3	6			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr4:79793907C>T	uc003hlk.3	+	12	1914	c.1748C>T	c.(1747-1749)cCa>cTa	p.P583L	BMP2K_uc003hlj.3_Missense_Mutation_p.P583L|BMP2K_uc003hll.3_Missense_Mutation_p.P47L	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	Homo sapiens BMP2 inducible kinase (BMP2K), transcript variant 1, mRNA.	583						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						TCATCACTTCCAGCTCAGGTT	0.448													34	44					0	0	0.003271	0	0	T	79793907	C	T	79793907	3	4	168	1	0	0	0	0	1	0	0	0	1460	594	21	3	1798	3	BMP2K	4	79793907	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	2775106	79793907	111360369	10	7441											
KLKB1	3818	broad.mit.edu	37	chr4	187178500	187178500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgtgctggctataaagaagGgggaaaagatgcttgtaagg	13	9	15	4	0	0	2	0	0	0	2	0	3	0	3	0	4	2	4	0	4	7	4			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr4:187178500G>A	uc003iyy.3	+	13	1777	c.1706G>A	c.(1705-1707)gGg>gAg	p.G569E	KLKB1_uc011clc.2_Missense_Mutation_p.G367E|KLKB1_uc011cld.2_Intron	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	569	Peptidase S1.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	p.G569E(2)|p.E568*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TATAAAGAAGGGGGAAAAGAT	0.323													7	153					0	0	0.008291	0	0	A	187178500	G	A	187178500	3	1	168	1	0	0	0	0	1	0	0	0	8412	1232	43	3	1756	3	KLKB1	4	187178500	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08	107384593	187178500	3975776	11	7442											
EBF1	1879	broad.mit.edu	37	chr5	158140057	158140057	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacgcccatcatccctgcGtggaccgaggtgttagcaag	8	9	11	13	3	2	0	2	0	0	0	3	2	3	1	3	2	2	2	3	2	2	2			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr5:158140057G>A	uc010jip.3	-	12	1592	c.1290C>T	c.(1288-1290)caC>caT	p.H430H	EBF1_uc011ddw.2_Silent_p.H298H|EBF1_uc011ddx.2_Silent_p.H431H|EBF1_uc003lxl.4_Silent_p.H399H	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Homo sapiens early B-cell factor 1 (EBF1), mRNA.	430					multicellular organismal development	nucleus	DNA binding|metal ion binding	p.H430Y(1)	HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCATCCCTGCGTGGACCGAGG	0.557			T	HMGA2	lipoma								38	37					0	0	0.006999	0	0	A	158140057	G	A	158140057	2	1	168	1	0	0	0	0	0	0	0	1	4880	1136	40	1		1	EBF1	5	158140057	Silent	SNP	G	TCGA-HT-7475-01A-11D-2024-08		158140057	22775203	12	7443											
ZNF454	285676	broad.mit.edu	37	chr5	178392212	178392221	+	Frame_Shift_Del	DEL	GAAGCCTTTT	GAAGCCTTTT	-																															cagaaaattcatactggagaGaagccttttgaatgcaactt																										TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr5:178392212_178392221delGAAGCCTTTT	uc003mjo.2	+	4	1108_1117	c.807_816delGAAGCCTTTT	c.(805-816)gagaagccttttfs	p.E269fs	ZNF454_uc010jkz.2_Frame_Shift_Del_p.E269fs|ZNF454_uc021yjc.1_Frame_Shift_Del_p.E269fs	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	Homo sapiens zinc finger protein 454 (ZNF454), transcript variant 2, mRNA.	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		ATACTGGAGAGAAGCCTTTTGAATGCAACT	0.395													24	68	---	---	---	---						-	178392221	GAAGCCTTTT	-	178392212	7	5	168	1	0	1	0	1	0	0	0	0	17920	933	33	0	821	0	ZNF454	5	178392212	Frame_Shift_Del	DEL	GAAGCCTTTT	TCGA-HT-7475-01A-11D-2024-08	20252155	178392212	2523048	13	7444											
CFB	629	broad.mit.edu	37	chr6	31902169	31902169	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcagaaccccactcacagcCcacctcctccaagaagtctt	11	7	4	19	0	3	2	2	0	1	2	5	2	5	2	6	0	2	0	6	0	3	1			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr6:31902169C>A	uc003nye.4	+	5	1206	c.942C>A	c.(940-942)gcC>gcA	p.A314A	CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nyf.3_Intron|CFB_uc010jtk.3_Intron|CFB_uc011doq.2_Intron|CFB_uc011dor.2_Intron|CFB_uc003nyh.2_5'Flank	NM_000063	NP_000054	P00751	CFAB_HUMAN	Homo sapiens complement component 2 (C2), transcript variant 1, mRNA.	0	VWFA.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CACTCACAGCCCACCTCCTCC	0.473													15	27					1.49906e-05	1.72808e-05	0.00245	1	0	A	31902169	C	A	31902169	2	1	168	1	0	0	0	0	0	0	0	1	3278	638	22	5		5	CFB	6	31902169	Silent	SNP	C	TCGA-HT-7475-01A-11D-2024-08		31902169	139212898	14	7445											
FANCE	2178	broad.mit.edu	37	chr6	35423550	35423550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgttgctgcgattgccccGgatatgccagaggaacctga	9	9	12	11	2	0	2	0	1	0	1	0	5	0	4	4	2	5	2	4	2	2	3			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr6:35423550G>A	uc003oko.1	+	1	460	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	FANCE_uc010jvw.1_Missense_Mutation_p.R92Q	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN	Homo sapiens Fanconi anemia, complementation group E (FANCE), mRNA.	92					DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						CGATTGCCCCGGATATGCCAG	0.592			"N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				47	41					0	0	0.01441	0	0	A	35423550	G	A	35423550	3	1	168	1	0	0	0	0	1	0	0	0	5666	1116	39	2	281	2	FANCE	6	35423550	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08	3521381	35423550	135691517	15	7446											
AKAP9	10142	broad.mit.edu	37	chr7	91736724	91736724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatattaggtcccctttacCatttcagaataggtaagaat	13	14	6	8	0	1	2	1	0	0	2	2	2	2	2	3	2	1	1	3	2	8	8			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr7:91736724C>T	uc003ulg.3	+	47	11759	c.11534C>T	c.(11533-11535)cCa>cTa	p.P3845L	AKAP9_uc003ulf.3_Missense_Mutation_p.P3837L|AKAP9_uc003uli.3_Missense_Mutation_p.P3468L|AKAP9_uc003ulj.3_Missense_Mutation_p.P1615L|AKAP9_uc003ull.3_Missense_Mutation_p.P741L	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	3849					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCCCCTTTACCATTTCAGAAT	0.353			T	BRAF	papillary thyroid								89	32					0	0	0.01441	0	0	T	91736724	C	T	91736724	3	4	168	1	0	0	0	0	1	0	0	0	459	594	21	3	11724	3	AKAP9	7	91736724	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08		91736724	67401939	16	7447											
PIK3CG	5294	broad.mit.edu	37	chr7	106508596	106508596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgcgaccccaagctctacgCcatgcacccgtgggtgacgt	7	6	11	17	5	1	1	0	1	1	0	1	2	1	1	5	1	3	2	5	1	2	1			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr7:106508596C>T	uc003vdv.4	+	1	675	c.590C>T	c.(589-591)gCc>gTc	p.A197V	PIK3CG_uc003vdu.3_Missense_Mutation_p.A197V|PIK3CG_uc003vdw.3_Missense_Mutation_p.A197V	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	197					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AAGCTCTACGCCATGCACCCG	0.632													21	149					0	0	0.012319	0	0	T	106508596	C	T	106508596	3	4	168	1	0	0	0	0	1	0	0	0	11916	739	26	3	592	3	PIK3CG	7	106508596	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	14771872	106508596	52630067	17	7448											
COG5	10466	broad.mit.edu	37	chr7	106938740	106938740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccataagtcattataaagaCgtaataatttagggtattct	15	15	6	5	1	2	1	1	0	1	1	3	1	3	1	1	1	0	2	1	1	8	9	rs35258567	byFrequency	TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr7:106938740C>T	uc003vec.2	-	11	1778	c.1253G>A	c.(1252-1254)cGt>cAt	p.R418H	COG5_uc003ved.2_Missense_Mutation_p.R418H|COG5_uc003vee.2_Missense_Mutation_p.R418H	NM_006348	NP_006339	Q9UP83	COG5_HUMAN	Homo sapiens component of oligomeric golgi complex 5 (COG5), transcript variant 1, mRNA.	418					intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						ATTATAAAGACGTAATAATTT	0.343													82	31					0	0	0.01441	0	0	T	106938740	C	T	106938740	3	4	168	1	0	0	0	0	1	0	0	0	3661	536	19	1	1377	1	COG5	7	106938740	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	430144	106938740	52199923	18	7449											
FGF20	26281	broad.mit.edu	37	chr8	16850596	16850596	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcacttcaagtgtacatcagTaggtccttgtacaattctgg	10	13	9	9	0	3	0	2	0	1	0	4	0	4	0	1	2	2	4	1	2	5	6			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr8:16850596T>C	uc003wxc.1	-	2	754	c.621A>G	c.(619-621)ctA>ctG	p.L207L	FGF20_uc010lsw.1_3'UTR	NM_019851	NP_062825	Q9NP95	FGF20_HUMAN	Homo sapiens fibroblast growth factor 20 (FGF20), mRNA.	207					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TGTACATCAGTAGGTCCTTGT	0.423													36	67					0	0	0.011902	0	0	C	16850596	T	C	16850596	2	2	168	1	0	0	0	0	0	0	0	1	5849	1625	57	3		3	FGF20	8	16850596	Silent	SNP	T	TCGA-HT-7475-01A-11D-2024-08		16850596	129513426	19	7450											
TMEM66	51669	broad.mit.edu	37	chr8	29923548	29923548	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgagtttgaacataccgaaTagctgcccgagcctccatga	11	9	9	12	2	0	3	0	3	0	0	1	5	1	3	4	0	5	2	4	0	4	3			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr8:29923548T>C	uc003xhs.3	-	4	1134	c.950A>G	c.(949-951)tAt>tGt	p.Y317C	MIR548O2_uc022atm.1_Intron|TMEM66_uc003xhv.3_Missense_Mutation_p.Y145C	NM_016127	NP_057211	Q96BY9	TMM66_HUMAN	Homo sapiens transmembrane protein 66 (TMEM66), mRNA.	317						integral to membrane				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		ACATACCGAATAGCTGCCCGA	0.473													5	75					0	0	0.000602	0	0	C	29923548	T	C	29923548	3	2	168	1	0	0	0	0	1	0	0	0	16192	1406	49	3	77	3	TMEM66	8	29923548	Missense_Mutation	SNP	T	TCGA-HT-7475-01A-11D-2024-08	13072952	29923548	116440474	20	7451											
ZMAT4	79698	broad.mit.edu	37	chr8	40532420	40532420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccggagcagtgtccatcCgtgggggcttaagtgggctc	6	8	15	12	2	0	0	0	0	0	0	3	1	2	1	4	4	1	3	4	4	1	1			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr8:40532420C>T	uc003xnr.3	-	4	526	c.380G>A	c.(379-381)cGg>cAg	p.R127Q	ZMAT4_uc003xns.3_Intron	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	Homo sapiens zinc finger, matrin-type 4 (ZMAT4), transcript variant 1, mRNA.	127						nucleus	DNA binding|zinc ion binding	p.R127W(2)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			AGTGTCCATCCGTGGGGGCTT	0.527													56	106					0	0	0.01441	0	0	T	40532420	C	T	40532420	3	4	168	1	0	0	0	0	1	0	0	0	17691	652	23	2	321	2	ZMAT4	8	40532420	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	10608872	40532420	105831602	21	7452											
PKHD1L1	93035	broad.mit.edu	37	chr8	110493686	110493686	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtagattaatcggtggctggGaagataacccttttaaagga	13	11	12	5	1	0	2	0	0	0	2	1	4	0	4	1	4	1	2	1	4	6	5			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr8:110493686G>A	uc003yne.3	+	55	9456	c.9352G>A	c.(9352-9354)Gaa>Aaa	p.E3118K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3118	G8 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CGGTGGCTGGGAAGATAACCC	0.378										HNSCC(38;0.096)			15	7					0	0	0.004007	0	0	A	110493686	G	A	110493686	3	1	168	1	0	0	0	0	1	0	0	0	11972	1175	41	3	9574	3	PKHD1L1	8	110493686	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08	69961266	110493686	35870336	22	7453											
COL22A1	169044	broad.mit.edu	37	chr8	139791795	139791795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccccggctctcccagctctCctggctccccctgaacaaac	6	7	7	21	1	2	1	0	1	2	0	5	1	3	1	6	2	3	3	6	2	2	0			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr8:139791795C>T	uc003yvd.3	-	13	2108	c.1661G>A	c.(1660-1662)gGa>gAa	p.G554E		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	554	Collagen-like 2.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCCCAGCTCTCCTGGCTCCCC	0.622										HNSCC(7;0.00092)			20	71					0	0	0.003954	0	0	T	139791795	C	T	139791795	3	4	168	1	0	0	0	0	1	0	0	0	3681	855	30	3	3427	3	COL22A1	8	139791795	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	29298109	139791795	6572227	23	7454											
DUPD1	338599	broad.mit.edu	37	chr10	76803657	76803657	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctccacgccgtggtactGgatgtccatgtcgcggtagt	5	10	14	12	4	0	0	0	0	0	0	3	1	2	1	4	4	1	2	4	4	2	2			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr10:76803657G>A	uc001jwq.1	-	1	319	c.319C>T	c.(319-321)Cag>Tag	p.Q107*		NM_001003892	NP_001003892	Q68J44	DUPD1_HUMAN	Homo sapiens dual specificity phosphatase and pro isomerase domain containing 1 (DUPD1), mRNA.	107	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CCGTGGTACTGGATGTCCATG	0.642													35	51					0	0	0.004878	0	0	A	76803657	G	A	76803657	4	1	168	1	0	0	0	0	0	1	0	0	4804	1357	47	3	351	3	DUPD1	10	76803657	Nonsense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08		76803657	58731090	24	7455											
HPS6	79803	broad.mit.edu	37	chr10	103826085	103826085	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcctgctgttgcttgactTcgggggcactgtgagcctat	4	12	15	10	1	0	2	0	2	0	0	1	2	0	2	2	3	3	4	2	3	1	4			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr10:103826085T>G	uc001kuj.3	+	0	962	c.854T>G	c.(853-855)tTc>tGc	p.F285C		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA.	285						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		TTGCTTGACTTCGGGGGCACT	0.682									Hermansky-Pudlak syndrome				18	36					0	0	0.007413	0	0	G	103826085	T	G	103826085	3	3	168	1	0	0	0	0	1	0	0	0	7343	1783	62	5	856	5	HPS6	10	103826085	Missense_Mutation	SNP	T	TCGA-HT-7475-01A-11D-2024-08	27022428	103826085	31708662	25	7456											
PHF21A	51317	broad.mit.edu	37	chr11	45959824	45959824	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcacatcagtaactggccacTttttctgcaaacgctgcaaa	12	10	7	12	1	2	0	1	0	1	0	2	0	2	0	1	1	4	5	1	1	3	3			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr11:45959824T>C	uc001ncc.4	-	14	2113	c.1489A>G	c.(1489-1491)Agt>Ggt	p.S497G	PHF21A_uc001ncb.4_Missense_Mutation_p.S451G|PHF21A_uc009ykx.3_Missense_Mutation_p.S451G|PHF21A_uc001nca.1_Missense_Mutation_p.S233G	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	Homo sapiens PHD finger protein 21A (PHF21A), transcript variant 1, mRNA.	497	Required for transcriptional repression.				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						AACTGGCCACTTTTTCTGCAA	0.403													26	34					0	0	0.008361	0	0	C	45959824	T	C	45959824	3	2	168	1	0	0	0	0	1	0	0	0	11833	1609	56	4	569	4	PHF21A	11	45959824	Missense_Mutation	SNP	T	TCGA-HT-7475-01A-11D-2024-08		45959824	89046692	26	7457											
OR5M3	219482	broad.mit.edu	37	chr11	56237959	56237959	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaatgaactctgtcacatcGgtgaaattgagcattttctg	12	13	9	7	1	3	4	1	3	2	1	4	4	3	4	0	1	2	1	0	1	3	3			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr11:56237959G>A	uc010rjk.2	-	0	56	c.15C>T	c.(13-15)acC>acT	p.T5T	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					CTGTCACATCGGTGAAATTGA	0.328													19	36					0	0	0.008871	0	0	A	56237959	G	A	56237959	2	1	168	1	0	0	0	0	0	0	0	1	11175	1103	39	2		2	OR5M3	11	56237959	Silent	SNP	G	TCGA-HT-7475-01A-11D-2024-08	10278135	56237959	78768557	27	7458											
OR4D6	219983	broad.mit.edu	37	chr11	59224535	59224535	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgtggtcttctttgctgtGtatgtagcaacagtcctggg	5	17	12	7	0	2	0	0	0	2	0	3	0	3	0	1	2	3	4	1	2	3	5			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr11:59224535G>T	uc010rku.2	+	0	102	c.102G>T	c.(100-102)gtG>gtT	p.V34V		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA.	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TCTTTGCTGTGTATGTAGCAA	0.458													6	94					8.12818e-05	9.24163e-05	0.001984	1	0	T	59224535	G	T	59224535	2	4	168	1	0	0	0	0	0	0	0	1	11058	1364	48	5		5	OR4D6	11	59224535	Silent	SNP	G	TCGA-HT-7475-01A-11D-2024-08	2986576	59224535	75781981	28	7459											
USP35	57558	broad.mit.edu	37	chr11	77916930	77916930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accgcatcaagcagctgctgGggcaggatgcctggacttcg	8	7	14	12	2	1	0	1	0	0	0	2	2	1	2	2	4	4	5	2	4	1	1			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr11:77916930G>A	uc021qny.1	+	6	1596	c.1240G>A	c.(1240-1242)Ggg>Agg	p.G414R	USP35_uc001oze.2_Missense_Mutation_p.G170R|USP35_uc001ozc.3_5'UTR|USP35_uc010rsp.2_Intron|USP35_uc001ozd.3_Nonsense_Mutation_p.W23*|USP35_uc001ozf.3_Missense_Mutation_p.G145R	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	Homo sapiens ubiquitin specific peptidase 35 (USP35), mRNA.	414					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GCAGCTGCTGGGGCAGGATGC	0.587													71	89					0	0	0.01441	0	0	A	77916930	G	A	77916930	3	1	168	1	0	0	0	0	1	0	0	0	17063	1232	43	3	1262	3	USP35	11	77916930	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08	18692395	77916930	57089586	29	7460											
TNFRSF1A	7132	broad.mit.edu	37	chr12	6438610	6438610	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcgtggcctcgcgccgCggcgtgcgccgcctccaggt	2	6	15	18	8	0	0	0	0	0	0	3	0	2	0	6	3	2	0	6	3	0	0			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr12:6438610C>T	uc001qnu.3	-	9	1539	c.1236G>A	c.(1234-1236)ccG>ccA	p.P412P	TNFRSF1A_uc001qnt.3_Silent_p.P304P|TNFRSF1A_uc010sey.2_Silent_p.P180P|TNFRSF1A_uc010sez.2_Silent_p.P304P|TNFRSF1A_uc009zek.3_Silent_p.P369P	NM_001065	NP_001056	P19438	TNR1A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 1A (TNFRSF1A), mRNA.	412	Death.			Missing (in Ref. 5; AAA36756).	apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						CCTCGCGCCGCGGCGTGCGCC	0.721													5	6					0	0	0.000602	0	0	T	6438610	C	T	6438610	2	4	168	1	0	0	0	0	0	0	0	1	16290	755	27	1		1	TNFRSF1A	12	6438610	Silent	SNP	C	TCGA-HT-7475-01A-11D-2024-08		6438610	127413285	30	7461											
MLL2	8085	broad.mit.edu	37	chr12	49446390	49446390	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggggccctggttccttgggTtgcatagaggtcacgtgccc	5	10	15	11	1	1	1	1	0	0	1	2	1	2	1	3	5	2	3	3	5	1	4			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr12:49446390T>C	uc001rta.4	-	8	1215	c.1215A>G	c.(1213-1215)caA>caG	p.Q405Q		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	405	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GTTCCTTGGGTTGCATAGAGG	0.557			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			12	10					0	0	0.013537	0	0	C	49446390	T	C	49446390	2	2	168	1	0	0	0	0	0	0	0	1	9621	1722	60	3		3	MLL2	12	49446390	Silent	SNP	T	TCGA-HT-7475-01A-11D-2024-08	43007780	49446390	84405505	31	7462											
LRP1	4035	broad.mit.edu	37	chr12	57547993	57547993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcattcgtactctccagacGtggaacagatggccatcgac	10	10	9	12	3	2	2	1	0	1	2	5	4	2	3	2	2	2	1	2	2	2	3			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr12:57547993G>A	uc001snd.3	+	6	1310	c.844G>A	c.(844-846)Gtg>Atg	p.V282M	LRP1_uc001snc.1_Missense_Mutation_p.V282M	NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	282					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTCTCCAGACGTGGAACAGAT	0.527													7	156					0	0	0.004482	0	0	A	57547993	G	A	57547993	3	1	168	1	0	0	0	0	1	0	0	0	8951	1145	40	1	870	1	LRP1	12	57547993	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08	8101603	57547993	76303902	32	7463											
SMOC1	64093	broad.mit.edu	37	chr14	70442501	70442502	+	Frame_Shift_Del	DEL	TC	TC	-																															ggaagcccatcagtggctctTctgtgcagaataaaactcct																										TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr14:70442501_70442502delTC	uc001xlt.2	+	3	730_731	c.448_449delTC	c.(448-450)tctfs	p.S150fs	SMOC1_uc001xls.2_Frame_Shift_Del_p.S150fs	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	150	Thyroglobulin type-1 1.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	p.S150F(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CAGTGGCTCTTCTGTGCAGAAT	0.525													24	41	---	---	---	---						-	70442502	TC	-	70442501	7	5	168	1	0	1	0	1	0	0	0	0	14801	1783	62	0	462	0	SMOC1	14	70442501	Frame_Shift_Del	DEL	TC	TCGA-HT-7475-01A-11D-2024-08		70442501	36907039	33	7464											
AHNAK2	113146	broad.mit.edu	37	chr14	105409595	105409595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tatctgggggcccttgaggtCcactttgggcatcttgaaac	7	12	12	10	0	2	2	0	2	2	0	3	2	3	2	2	4	1	1	2	4	2	4			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr14:105409595C>T	uc010axc.1	-	6	12313	c.12193G>A	c.(12193-12195)Gac>Aac	p.D4065N	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.D3965N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4065						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCTTGAGGTCCACTTTGGGC	0.602													93	182					0	0	0.01441	0	0	T	105409595	C	T	105409595	3	4	168	1	0	0	0	0	1	0	0	0	415	855	30	3	5198	3	AHNAK2	14	105409595	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	34967094	105409595	1939945	34	7465											
SCNN1B	6338	broad.mit.edu	37	chr16	23382718	23382718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcacgagcagaggtcatacCccttcatcagagatgagggc	11	8	11	11	1	4	3	4	1	0	2	4	5	4	3	2	2	2	1	2	2	1	3			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr16:23382718C>T	uc002dln.3	+	5	1155	c.979C>T	c.(979-981)Ccc>Tcc	p.P327S		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	327					excretion|sensory perception of taste	apical plasma membrane	WW domain binding|ligand-gated sodium channel activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GAGGTCATACCCCTTCATCAG	0.602													14	32					0	0	0.001855	0	0	T	23382718	C	T	23382718	3	4	168	1	0	0	0	0	1	0	0	0	13928	623	22	3	997	3	SCNN1B	16	23382718	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08		23382718	66972035	35	7466											
EIF4A1	1973	broad.mit.edu	37	chr17	7477923	7477923	+	Frame_Shift_Del	DEL	C	C	-																															aacctctcggagtcccttctCcgtggcatctacgcgtatgg																										TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr17:7477923delC	uc002gho.2	+	13	2695	c.132delC	c.(130-132)ctcfs	p.L44fs	EIF4A1_uc002ghr.1_Frame_Shift_Del_p.L44fs|SNORA48_uc002ghs.1_5'Flank|SNORD10_uc002ght.3_5'Flank	NM_001416	NP_001407	P60842	IF4A1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4A1 (EIF4A1), transcript variant 1, mRNA.	44					nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|RNA cap binding|mRNA binding|protein binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						AGTCCCTTCTCCGTGGCATCT	0.478													28	52	---	---	---	---						-	7477923	C	-	7477923	7	5	168	1	0	1	0	1	0	0	0	0	5024	842	30	0	142	0	EIF4A1	17	7477923	Frame_Shift_Del	DEL	C	TCGA-HT-7475-01A-11D-2024-08		7477923	73717287	36	7467											
TP53	7157	broad.mit.edu	37	chr17	7578226	7578226	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtcgaaaagtgtttctgTcatccaaatactccacacgc	12	12	6	11	2	2	0	1	0	1	0	5	1	4	0	2	0	1	1	2	0	5	3			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr17:7578226T>C	uc002gim.2	-	5	817	c.623A>G	c.(622-624)gAc>gGc	p.D208G	TP53_uc002gig.1_Missense_Mutation_p.D208G|TP53_uc002gih.3_Missense_Mutation_p.D208G|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.D76G|TP53_uc010cnf.1_Missense_Mutation_p.D76G|TP53_uc002gii.1_Missense_Mutation_p.D76G|TP53_uc010cni.1_Missense_Mutation_p.D208G|TP53_uc010cnh.1_Missense_Mutation_p.D208G|TP53_uc002gij.2_Missense_Mutation_p.D208G|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.D115G|TP53_uc002gio.2_Missense_Mutation_p.D76G|TP53_uc010vug.2_Missense_Mutation_p.D169G|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	208	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		D -> E (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in a sporadic cancer; somatic mutation).|D -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> N (in sporadic cancers; somatic mutation).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in a sporadic cancer; somatic mutation).|DD -> EY (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.D208V(28)|p.0?(8)|p.D208G(6)|p.D208E(5)|p.?(5)|p.D207fs*6(4)|p.D208fs*38(2)|p.D208N(2)|p.D208I(2)|p.D207G(2)|p.E204_N210delEYLDDRN(2)|p.D207_R213delDDRNTFR(2)|p.D208_V216delDRNTFRHSV(2)|p.D208fs*1(2)|p.D208fs*39(2)|p.D207_V216del10(2)|p.K164_P219del(1)|p.D208Y(1)|p.D207fs*2(1)|p.D208fs*?(1)|p.D208H(1)|p.D207N(1)|p.D207A(1)|p.D207D(1)|p.D207E(1)|p.D207Y(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)		AGTGTTTCTGTCATCCAAATA	0.532		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)			17	32					0	0	0.00499	0	0	C	7578226	T	C	7578226	3	2	168	1	0	0	0	0	1	0	0	0	16378	1667	58	3	671	3	TP53	17	7578226	Missense_Mutation	SNP	T	TCGA-HT-7475-01A-11D-2024-08	100303	7578226	73616984	37	7468											
TP53	7157	broad.mit.edu	37	chr17	7579358	7579358	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaatgcaagaagcccagaCggaaaccgtagctgccctgg	13	4	12	12	2	0	3	0	0	0	3	0	4	0	4	3	2	5	3	3	2	5	1	rs11540654		TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr17:7579358C>G	uc002gim.2	-	3	523	c.329G>C	c.(328-330)cGt>cCt	p.R110P	TP53_uc002gig.1_Missense_Mutation_p.R110P|TP53_uc002gih.3_Missense_Mutation_p.R110P|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Missense_Mutation_p.R110P|TP53_uc010cnh.1_Missense_Mutation_p.R110P|TP53_uc002gij.2_Missense_Mutation_p.R110P|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Missense_Mutation_p.R71P|TP53_uc010cnk.1_Missense_Mutation_p.R125P	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	110	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654).|R -> S (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R110L(62)|p.R110P(18)|p.R110fs*13(9)|p.0?(8)|p.R110C(5)|p.R110H(4)|p.F109_R110delFR(4)|p.G59fs*23(3)|p.R110fs*39(2)|p.G108_F109delGF(2)|p.F109C(2)|p.Y103_G112>C(2)|p.F109S(2)|p.Y103_L111>L(2)|p.G105_T125del21(2)|p.Y107fs*38(1)|p.R110fs*18(1)|p.V73fs*9(1)|p.Y107fs*44(1)|p.S33fs*23(1)|p.R110S(1)|p.F109fs*16(1)|p.F109F(1)|p.P13fs*18(1)|p.F109V(1)|p.F109_R110insXX(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)		GAAGCCCAGACGGAAACCGTA	0.612		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)			21	41					0	0	0.010504	0	0	G	7579358	C	G	7579358	3	3	168	1	0	0	0	0	1	0	0	0	16378	536	19	5	973	5	TP53	17	7579358	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	1132	7579358	73615852	38	7469											
EZH1	2145	broad.mit.edu	37	chr17	40869993	40869993	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagaacagcttaagaacataCcagcaaaaggaagcagtctg	18	5	9	9	0	1	2	0	0	1	2	1	3	1	3	1	1	6	3	1	1	7	2			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr17:40869993C>A	uc010wgu.2	-	9	1077	c.1041_splice	c.e9+1	p.L347_splice	EZH1_uc002iaz.3_Splice_Site_p.L341_splice|EZH1_uc002iba.3_Splice_Site_p.L332_splice|EZH1_uc010wgt.2_Splice_Site_p.L271_splice|EZH1_uc010wgv.2_Splice_Site_p.L301_splice|EZH1_uc010wgw.2_Splice_Site_p.L202_splice|EZH1_uc010cyp.2_Splice_Site_p.L242_splice|EZH1_uc010cyq.2_Splice_Site_p.L258_splice|EZH1_uc010cys.2_Splice_Site_p.L292_splice|EZH1_uc010cyo.1_Intron|EZH1_uc010cyr.1_Splice_Site	NM_001991	NP_001982	Q92800	EZH1_HUMAN	Homo sapiens enhancer of zeste homolog 1 (Drosophila) (EZH1), mRNA.	341					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|chromatin binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TAAGAACATACCAGCAAAAGG	0.413													19	25					1.96292e-10	2.29468e-10	0.010504	1	0	A	40869993	C	A	40869993	5	1	168	1	0	0	0	0	0	0	1	0	5333	521	18	5	1267	5	EZH1	17	40869993	Splice_Site	SNP	C	TCGA-HT-7475-01A-11D-2024-08	33290635	40869993	40325217	39	7470											
MPO	4353	broad.mit.edu	37	chr17	56357985	56357985	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggagcagcaccttcagaGggctggggcgtggccagaat	8	6	16	11	1	1	2	1	0	0	2	1	3	1	3	3	5	2	3	3	5	1	1			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr17:56357985G>A	uc002ivu.1	-	0	312	c.135C>T	c.(133-135)ccC>ccT	p.P45P		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	45					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)	CACCTTCAGAGGGCTGGGGCG	0.597													22	51					0	0	0.003954	0	0	A	56357985	G	A	56357985	2	1	168	1	0	0	0	0	0	0	0	1	9732	987	35	3		3	MPO	17	56357985	Silent	SNP	G	TCGA-HT-7475-01A-11D-2024-08	15487992	56357985	24837225	40	7471											
CD300LB	124599	broad.mit.edu	37	chr17	72518906	72518906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgtctttagtcagaggttCggagaagttcatgtagatag	11	13	12	5	1	3	3	2	0	1	3	4	4	3	3	0	2	0	3	0	2	4	6			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr17:72518906C>T	uc002jkx.2	-	3	701	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K		NM_174892	NP_777552	A8K4G0	CLM7_HUMAN	Homo sapiens CD300 molecule-like family member b (CD300LB), mRNA.	193						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						GTCAGAGGTTCGGAGAAGTTC	0.547													32	47					0	0	0.003271	0	0	T	72518906	C	T	72518906	3	4	168	1	0	0	0	0	1	0	0	0	2999	893	31	2	32	2	CD300LB	17	72518906	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	16160921	72518906	8676304	41	7472											
PTPRM	5797	broad.mit.edu	37	chr18	7949178	7949178	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccccaccccacttgatacaGggcattgatgtgcgagatgc	9	9	10	13	1	0	3	0	2	0	1	1	4	1	3	4	1	3	1	4	1	1	3			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr18:7949178G>A	uc002knn.4	+	6	1167	c.664_splice	c.e6-1	p.G222_splice	PTPRM_uc010dkv.3_Splice_Site_p.G222_splice|PTPRM_uc010wzl.2_Splice_Site_p.G9_splice	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	222	Ig-like C2-type.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				ACTTGATACAGGGCATTGATG	0.448													37	50					0	0	0.009718	0	0	A	7949178	G	A	7949178	5	1	168	1	0	0	0	0	0	0	1	0	12806	1014	35	3	685	3	PTPRM	18	7949178	Splice_Site	SNP	G	TCGA-HT-7475-01A-11D-2024-08		7949178	70128070	42	7473											
DSG1	1828	broad.mit.edu	37	chr18	28911710	28911710	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgacgcagatgaaccgaaCaatttgaactcaaaaatagc	18	7	7	9	2	1	4	1	3	0	1	1	5	1	4	1	0	4	1	1	0	7	2			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr18:28911710C>A	uc002kwp.3	+	5	776	c.564C>A	c.(562-564)aaC>aaA	p.N188K		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	188	Cadherin 2.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ATGAACCGAACAATTTGAACT	0.333													20	36					1.96292e-10	2.29468e-10	0.010504	1	0	A	28911710	C	A	28911710	3	1	168	1	0	0	0	0	1	0	0	0	4776	477	17	5	586	5	DSG1	18	28911710	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	20962532	28911710	49165538	43	7474											
NOL4	8715	broad.mit.edu	37	chr18	31709958	31709958	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagctacccgtcgtaaagaTagcttctcatctacccctac	11	10	5	15	2	2	1	1	0	2	1	4	1	2	1	3	0	5	3	3	0	6	6			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr18:31709958T>C	uc010dmi.3	-	1	589	c.291A>G	c.(289-291)ctA>ctG	p.L97L	NOL4_uc002kxr.4_5'UTR|NOL4_uc010xbt.2_Silent_p.L23L|NOL4_uc010dmh.3_Silent_p.L23L|NOL4_uc010xbu.2_Silent_p.L97L|NOL4_uc002kxt.4_Silent_p.L97L	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	97						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GTCGTAAAGATAGCTTCTCAT	0.373													18	27					0	0	0.006122	0	0	C	31709958	T	C	31709958	2	2	168	1	0	0	0	0	0	0	0	1	10524	1393	49	3		3	NOL4	18	31709958	Silent	SNP	T	TCGA-HT-7475-01A-11D-2024-08	2798248	31709958	46367290	44	7475											
PIK3R2	5296	broad.mit.edu	37	chr19	18272833	18272833	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagctgcttcaggaacaCttggaagagcaggaggttgc	12	7	15	7	0	1	2	1	0	0	2	1	6	1	5	0	4	5	4	0	4	3	3	rs68016487		TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr19:18272833C>T	uc002nia.1	+	6	1385	c.873C>T	c.(871-873)caC>caT	p.H291H	PIK3R2_uc002nib.1_Non-coding_Transcript|PIK3R2_uc010ebi.1_Non-coding_Transcript	NM_005027	NP_005018	O00459	P85B_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta) (PIK3R2), mRNA.	291	Rho-GAP.				T cell costimulation|T cell receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						TTCAGGAACACTTGGAAGAGC	0.612													28	37					0	0	0.008361	0	0	T	18272833	C	T	18272833	2	4	168	1	0	0	0	0	0	0	0	1	11919	564	20	3		3	PIK3R2	19	18272833	Silent	SNP	C	TCGA-HT-7475-01A-11D-2024-08		18272833	40856150	45	7476											
MLL2	8085	broad.mit.edu	37	chr19	36216441	36216441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctggaggaggccgagcGgcccctgccccagcatcacg	6	4	14	17	3	1	0	1	0	0	0	1	3	1	2	6	4	4	1	6	4	0	0			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr19:36216441G>A	uc021usv.1	+	11	3704	c.3704G>A	c.(3703-3705)cGg>cAg	p.R1235Q	MLL2_uc021usu.1_Missense_Mutation_p.R49Q	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	1414					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GAGGCCGAGCGGCCCCTGCCC	0.597			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			86	145					0	0	0.01441	0	0	A	36216441	G	A	36216441	3	1	168	1	0	0	0	0	1	0	0	0	9621	1116	39	2		2	MLL2	19	36216441	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08	17943608	36216441	22912542	46	7477											
ZNF567	163081	broad.mit.edu	37	chr19	37203719	37203719	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgatgtgatcctcaagtTggaacgaggagaagagccat	13	8	12	8	1	1	4	1	2	0	2	2	7	2	5	3	2	2	1	3	2	3	1			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr19:37203719T>G	uc010xtl.2	+	4	395	c.173T>G	c.(172-174)tTg>tGg	p.L58W	ZNF567_uc002oeo.1_Missense_Mutation_p.L58W|ZNF567_uc010xtk.1_Missense_Mutation_p.L58W|ZNF567_uc002oep.4_Missense_Mutation_p.L27W|ZNF567_uc002oeq.1_Missense_Mutation_p.L27W	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	Homo sapiens zinc finger protein 567 (ZNF567), mRNA.	58	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATCCTCAAGTTGGAACGAGGA	0.423													17	30					0	0	0.006122	0	0	G	37203719	T	G	37203719	3	3	168	1	0	0	0	0	1	0	0	0	17995	1821	63	5	86	5	ZNF567	19	37203719	Missense_Mutation	SNP	T	TCGA-HT-7475-01A-11D-2024-08	987278	37203719	21925264	47	7478											
ZNF600	162966	broad.mit.edu	37	chr19	53269430	53269430	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgctgcactcattacactTgtaaggtttctcaccactat	9	15	5	12	0	2	0	2	0	1	0	3	0	2	0	1	1	3	4	1	1	3	6			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr19:53269430T>C	uc002qab.4	-	2	1865	c.1579A>G	c.(1579-1581)Aag>Gag	p.K527E	ZNF600_uc021uyz.1_Missense_Mutation_p.K527E	NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	Homo sapiens zinc finger protein 600 (ZNF600), mRNA.	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TCATTACACTTGTAAGGTTTC	0.453													11	104					0	0	0.010729	0	0	C	53269430	T	C	53269430	3	2	168	1	0	0	0	0	1	0	0	0	18027	1821	63	3	593	3	ZNF600	19	53269430	Missense_Mutation	SNP	T	TCGA-HT-7475-01A-11D-2024-08	16065711	53269430	5859553	48	7479											
MACROD2	140733	broad.mit.edu	37	chr20	15843442	15843442	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttgacttcaaaatctacaAaaagaaaatgaatgagtttt	19	12	6	4	0	2	4	1	3	1	1	2	4	2	4	0	0	1	2	0	0	8	5			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr20:15843442A>T	uc002wou.3	+	8	962	c.698A>T	c.(697-699)aAa>aTa	p.K233I	MACROD2_uc002wot.3_Missense_Mutation_p.K233I|MACROD2_uc002woz.3_5'UTR|MACROD2_uc002wpb.3_5'UTR	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	233	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AAAATCTACAAAAAGAAAATG	0.348													13	28					0	0	0.003163	0	0	T	15843442	A	T	15843442	3	4	168	1	0	0	0	0	1	0	0	0	9146	14	1	5	732	5	MACROD2	20	15843442	Missense_Mutation	SNP	A	TCGA-HT-7475-01A-11D-2024-08		15843442	47182078	49	7480											
TPTE	7179	broad.mit.edu	37	chr21	10970032	10970032	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttcgcaggtgcctcctcGgttgctcctttaaattcact	5	16	7	13	2	2	0	1	0	1	0	6	0	4	0	3	2	2	3	3	2	2	5	rs147186596		TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr21:10970032G>A	uc002yip.1	-	5	464	c.96C>T	c.(94-96)acC>acT	p.T32T	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.T32T|TPTE_uc002yir.1_Silent_p.T32T|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	32					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.T32T(3)|p.A31S(2)|p.E33fs*10(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTGCCTCCTCGGTTGCTCCTT	0.398													28	108					0	0	0.007291	0	0	A	10970032	G	A	10970032	2	1	168	1	0	0	0	0	0	0	0	1	16427	1103	39	2		2	TPTE	21	10970032	Silent	SNP	G	TCGA-HT-7475-01A-11D-2024-08		10970032	37159863	50	7481											
CECR1	51816	broad.mit.edu	37	chr22	17684592	17684592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaagatggtttcaaatttcGaccagacaacattttggttt	13	14	8	6	1	1	3	1	0	0	3	2	4	1	3	1	2	1	2	1	2	3	5			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr22:17684592G>A	uc002zmk.1	-	2	826	c.614C>T	c.(613-615)tCg>tTg	p.S205L	CECR1_uc010gqu.1_Missense_Mutation_p.S205L|CECR1_uc011agi.1_Missense_Mutation_p.S163L|CECR1_uc011agj.1_Missense_Mutation_p.S163L	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA.	205	Substrate binding.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	Golgi apparatus|extracellular space	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TTCAAATTTCGACCAGACAAC	0.493													17	27					0	0	0.00499	0	0	A	17684592	G	A	17684592	3	1	168	1	0	0	0	0	1	0	0	0	3205	1059	37	2	983	2	CECR1	22	17684592	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08		17684592	33619974	51	7482											
USP11	8237	broad.mit.edu	37	chrX	47092455	47092455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacggcgatggcgacggtcGcagcaaatccagctgctgct	8	6	15	12	5	0	0	0	0	0	0	2	3	1	1	1	4	4	5	1	4	1	0			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chrX:47092455G>A	uc004dhp.3	+	0	142	c.142G>A	c.(142-144)Gca>Aca	p.A48T		NM_004651	NP_004642	P51784	UBP11_HUMAN	Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.	48					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						ggcgacggtcgcagcaaatcc	0.642													5	2					0	0	0.000602	0	0	A	47092455	G	A	47092455	3	1	168	1	0	0	0	0	1	0	0	0	17039	1087	38	1	144	1	USP11	23	47092455	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08		47092455	108178105	52	7483											
ATRX	546	broad.mit.edu	37	chrX	76813076	76813076	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcgaaaagacagtgactgcTtagttacttgccgatcataa	13	11	8	9	2	1	2	1	1	0	1	2	4	1	2	1	0	3	2	1	0	5	4			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chrX:76813076T>C	uc004ecp.4	-	29	6777	c.6545A>G	c.(6544-6546)aAg>aGg	p.K2182R	ATRX_uc004ecq.4_Missense_Mutation_p.K2144R|ATRX_uc004eco.4_Missense_Mutation_p.K1967R	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2182	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CAGTGACTGCTTAGTTACTTG	0.333			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						61	10					0	0	0.01441	0	0	C	76813076	T	C	76813076	3	2	168	1	0	0	0	0	1	0	0	0	1208	1609	56	4	957	4	ATRX	23	76813076	Missense_Mutation	SNP	T	TCGA-HT-7475-01A-11D-2024-08	29720621	76813076	78457484	53	7484											
ITIH4	3700	broad.mit.edu	37	chr3	52848085	52848085	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcacctcctggtaaaactGgcctgagatacaaagggtgg	12	7	13	9	0	0	1	0	1	0	1	1	3	1	1	3	4	3	2	3	4	4	2			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr3:52848085G>A	uc011bem.2	-	22	2672	c.2644C>T	c.(2644-2646)Cag>Tag	p.Q882*	AX746575_uc003dfw.1_5'Flank|ITIH4_uc011bel.2_Nonsense_Mutation_p.Q591*|ITIH4_uc003dfy.3_Nonsense_Mutation_p.Q672*|ITIH4_uc003dfz.3_Nonsense_Mutation_p.Q877*|ITIH4_uc011ben.2_Nonsense_Mutation_p.Q847*	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA.	877					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TGGTAAAACTGGCCTGAGATA	0.592													9	15					0	0	0.361761	0	0	A	52848085	G	A	52848085	4	1	169	1	0	0	0	0	0	1	0	0	7906	1357	47	3	171	3	ITIH4	3	52848085	Nonsense_Mutation	SNP	G	TCGA-HT-7476-01A-11D-2024-08		52848085	145174345	1	7485											
KIAA1211	57482	broad.mit.edu	37	chr4	57193877	57193877	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaagaggttttccaccccGgatgctgcccccgtgtcaac	8	8	9	16	2	1	1	1	0	0	1	2	2	2	2	6	2	3	2	6	2	2	2			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr4:57193877G>A	uc003hbk.2	+	10	4000	c.3609G>A	c.(3607-3609)ccG>ccA	p.P1203P	KIAA1211_uc010iha.2_Silent_p.P1196P	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	1203								p.P1203Q(2)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TTTCCACCCCGGATGCTGCCC	0.507													53	110					0	0	0.870114	0	0	A	57193877	G	A	57193877	2	1	169	1	0	0	0	0	0	0	0	1	8215	1103	39	2		2	KIAA1211	4	57193877	Silent	SNP	G	TCGA-HT-7476-01A-11D-2024-08		57193877	133960399	2	7486											
TRPC3	7222	broad.mit.edu	37	chr4	122853715	122853715	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggatgatgggggtgatgTccggcgagaagcgcgtgccg	7	6	19	9	5	0	3	0	2	0	1	1	5	1	4	3	4	2	0	3	4	1	0			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr4:122853715T>A	uc003ieg.2	-	1	772	c.698A>T	c.(697-699)gAc>gTc	p.D233V	TRPC3_uc010inr.2_Missense_Mutation_p.D160V|TRPC3_uc003ief.2_Missense_Mutation_p.D160V|TRPC3_uc011cgl.1_5'UTR	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	148					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GGGGGTGATGTCCGGCGAGAA	0.617													20	34					0	0	0.592651	0	0	A	122853715	T	A	122853715	3	1	169	1	0	0	0	0	1	0	0	0	16576	1667	58	5	2111	5	TRPC3	4	122853715	Missense_Mutation	SNP	T	TCGA-HT-7476-01A-11D-2024-08	65659838	122853715	68300561	3	7487											
FAT4	79633	broad.mit.edu	37	chr4	126239920	126239920	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaaccatcactgtattggAcactcaagacaacccacctg	14	8	6	13	0	2	1	2	0	0	1	2	2	2	2	3	1	2	2	3	1	4	3			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr4:126239920A>G	uc003ifj.4	+	0	2354	c.2354A>G	c.(2353-2355)gAc>gGc	p.D785G		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	785	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACTGTATTGGACACTCAAGAC	0.448													14	100					0	0	0.435327	0	0	G	126239920	A	G	126239920	3	3	169	1	0	0	0	0	1	0	0	0	5692	275	10	3	2356	3	FAT4	4	126239920	Missense_Mutation	SNP	A	TCGA-HT-7476-01A-11D-2024-08	3386205	126239920	64914356	4	7488											
AP3B1	8546	broad.mit.edu	37	chr5	77473214	77473214	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagaaattatgccagcttcaGattttggtgatatgtgccaa	12	14	9	6	0	1	3	1	1	0	2	1	3	1	3	2	1	3	1	2	1	5	6			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr5:77473214G>C	uc003kfj.3	-	8	1114	c.989C>G	c.(988-990)tCt>tGt	p.S330C		NM_003664	NP_003655	O00203	AP3B1_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA.	330					endocytosis|melanosome organization	Golgi apparatus|clathrin coated vesicle membrane|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GCCAGCTTCAGATTTTGGTGA	0.338									Hermansky-Pudlak syndrome				22	41					0	0	0.717897	0	0	C	77473214	G	C	77473214	3	2	169	1	0	0	0	0	1	0	0	0	744	942	33	5	2371	5	AP3B1	5	77473214	Missense_Mutation	SNP	G	TCGA-HT-7476-01A-11D-2024-08		77473214	103442046	5	7489											
DYNC1I1	1780	broad.mit.edu	37	chr7	95657551	95657551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtggttggtgggacttactCgggccagattgtcctctggg	4	12	17	8	1	1	1	0	0	1	1	3	2	2	2	2	6	1	1	2	6	1	3			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr7:95657551C>T	uc003uoc.4	+	10	1362	c.1085C>T	c.(1084-1086)tCg>tTg	p.S362L	DYNC1I1_uc003uod.4_Missense_Mutation_p.S345L|DYNC1I1_uc003uob.3_Missense_Mutation_p.S325L|DYNC1I1_uc003uoe.4_Missense_Mutation_p.S342L|DYNC1I1_uc010lfl.3_Missense_Mutation_p.S351L	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	362					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	p.S362S(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GGGACTTACTCGGGCCAGATT	0.532													47	89					0	0	0.870114	0	0	T	95657551	C	T	95657551	3	4	169	1	0	0	0	0	1	0	0	0	4842	893	31	2	1123	2	DYNC1I1	7	95657551	Missense_Mutation	SNP	C	TCGA-HT-7476-01A-11D-2024-08		95657551	63481112	6	7490											
SPAM1	6677	broad.mit.edu	37	chr7	123594310	123594310	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggattgttacaaccatcactAtaagaaacccggttacaatg	15	10	7	9	1	1	1	1	0	0	1	1	2	1	2	2	2	4	2	2	2	7	5			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr7:123594310A>T	uc003vle.3	+	2	1125	c.686A>T	c.(685-687)tAt>tTt	p.Y229F	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.Y229F|SPAM1_uc022aks.1_Missense_Mutation_p.Y229F|SPAM1_uc003vlf.4_Missense_Mutation_p.Y229F|SPAM1_uc010lku.3_Missense_Mutation_p.Y229F	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	229					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.Y229C(3)|p.H228Y(1)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AACCATCACTATAAGAAACCC	0.388													36	72					0	0	0.779181	0	0	T	123594310	A	T	123594310	3	4	169	1	0	0	0	0	1	0	0	0	14986	449	16	5	688	5	SPAM1	7	123594310	Missense_Mutation	SNP	A	TCGA-HT-7476-01A-11D-2024-08	27936759	123594310	35544353	7	7491											
GDAP1	54332	broad.mit.edu	37	chr8	75274211	75274211	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcaaaacagaaacgacttAaagtaagccaatcagctgtc	17	8	7	9	1	1	1	1	0	0	1	2	2	1	1	1	0	5	3	1	0	7	3			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr8:75274211A>G	uc003yah.3	+	3	656	c.577A>G	c.(577-579)Aaa>Gaa	p.K193E	GDAP1_uc011lfj.2_Missense_Mutation_p.K78E|GDAP1_uc003yai.3_Missense_Mutation_p.K125E	NM_018972	NP_001035808	Q8TB36	GDAP1_HUMAN	Homo sapiens ganglioside-induced differentiation-associated protein 1 (GDAP1), transcript variant 1, mRNA.	193	GST C-terminal.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			GAAACGACTTAAAGTAAGCCA	0.358													10	44					0	0	0.335167	0	0	G	75274211	A	G	75274211	3	3	169	1	0	0	0	0	1	0	0	0	6307	363	13	3	591	3	GDAP1	8	75274211	Missense_Mutation	SNP	A	TCGA-HT-7476-01A-11D-2024-08		75274211	71089811	8	7492											
MUSK	4593	broad.mit.edu	37	chr9	113457754	113457754	+	Frame_Shift_Del	DEL	A	A	-																															aagcagtcctaccatgtactAcaatgggtaatcccaaacca																										TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr9:113457754delA	uc022blv.1	+	3	564	c.430delA	c.(430-432)acafs	p.T144fs	MUSK_uc022blt.1_Frame_Shift_Del_p.T144fs|MUSK_uc004bez.2_Frame_Shift_Del_p.T144fs|MUSK_uc022blu.1_Frame_Shift_Del_p.T144fs	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	144	Ig-like 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						ACCATGTACTACAATGGGTAA	0.328													2	4	---	---	---	---						-	113457754	A	-	113457754	7	5	169	1	0	1	0	1	0	0	0	0	9989	391	14	0	444	0	MUSK	9	113457754	Frame_Shift_Del	DEL	A	TCGA-HT-7476-01A-11D-2024-08		113457754	27755677	9	7493											
MUSK	4593	broad.mit.edu	37	chr9	113547910	113547910	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgctccttctgaaccccAaattgctcagcctggagtat	8	11	8	14	1	2	1	1	1	1	0	3	2	3	2	5	1	4	3	5	1	3	3			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr9:113547910A>G	uc022blv.1	+	12	1824	c.1690A>G	c.(1690-1692)Aaa>Gaa	p.K564E	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Missense_Mutation_p.K475E|MUSK_uc022blu.1_Missense_Mutation_p.K465E	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	564					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.K564*(2)|p.P563H(1)|p.P563P(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TCTGAACCCCAAATTGCTCAG	0.483													65	112					0	0	0.870114	0	0	G	113547910	A	G	113547910	3	3	169	1	0	0	0	0	1	0	0	0	9989	131	5	3	1772	3	MUSK	9	113547910	Missense_Mutation	SNP	A	TCGA-HT-7476-01A-11D-2024-08	90156	113547910	27665521	10	7494											
KIAA1377	57562	broad.mit.edu	37	chr11	101857730	101857730	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtcagctgaagaacagAagatcctagagtcccttaat	14	9	8	10	0	1	5	1	1	0	4	3	5	3	5	2	0	2	1	2	0	5	2			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr11:101857730A>G	uc001pgm.3	+	8	3472	c.3202A>G	c.(3202-3204)Aag>Gag	p.K1068E	KIAA1377_uc001pgn.3_Missense_Mutation_p.K1024E|KIAA1377_uc010run.2_Missense_Mutation_p.K869E	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	1068							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TGAAGAACAGAAGATCCTAGA	0.328													22	39					0	0	0.654019	0	0	G	101857730	A	G	101857730	3	3	169	1	0	0	0	0	1	0	0	0	8227	247	9	3	3236	3	KIAA1377	11	101857730	Missense_Mutation	SNP	A	TCGA-HT-7476-01A-11D-2024-08		101857730	33148786	11	7495											
LRFN5	145581	broad.mit.edu	37	chr14	42356999	42356999	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaaccatatccatgagcctGatcctggttcttcagatatc	11	12	6	12	0	2	3	1	2	1	1	5	3	4	3	4	1	2	1	4	1	3	4			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr14:42356999G>C	uc001wvm.3	+	2	2369	c.1171G>C	c.(1171-1173)Gat>Cat	p.D391H	LRFN5_uc010ana.3_Missense_Mutation_p.D391H	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	391						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CCATGAGCCTGATCCTGGTTC	0.388										HNSCC(30;0.082)			12	56					0	0	0.38729	0	0	C	42356999	G	C	42356999	3	2	169	1	0	0	0	0	1	0	0	0	8941	1290	45	5	1173	5	LRFN5	14	42356999	Missense_Mutation	SNP	G	TCGA-HT-7476-01A-11D-2024-08		42356999	64992541	12	7496											
IDH2	3418	broad.mit.edu	37	chr15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcgccatgggcgtgcCtgccaatggtgatgggcttg	4	10	16	11	2	0	1	0	1	0	0	1	1	0	1	4	4	2	1	4	4	1	1	rs121913503		TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr15:90631838C>T	uc002box.3	-	3	601	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_uc010uqb.2_Missense_Mutation_p.R120K|IDH2_uc010uqc.2_Missense_Mutation_p.R42K	NM_002168	NP_002159	P48735	IDHP_HUMAN	Homo sapiens isocitrate dehydrogenase 2 (NADP+), mitochondrial (IDH2), nuclear gene encoding mitochondrial protein, mRNA.	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding	p.R172K(358)|p.R172M(44)|p.R172S(18)|p.R172W(16)|p.R172?(13)|p.R172G(5)|p.G171D(4)|p.R172N(2)|p.R172L(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								27	40					0	0	0.693898	0	0	T	90631838	C	T	90631838	3	4	169	1	0	0	0	0	1	0	0	0	7495	681	24	3	875	3	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-HT-7476-01A-11D-2024-08		90631838	11899554	13	7497											
UNC45A	55898	broad.mit.edu	37	chr15	91491977	91491977	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agcccgaccccaagatggtgGagctggccaagtatgccaag	11	5	13	12	1	0	1	0	0	0	1	0	3	0	2	5	3	3	2	5	3	4	1			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr15:91491977G>C	uc002bqg.3	+	12	2171	c.1831G>C	c.(1831-1833)Gag>Cag	p.E611Q	UNC45A_uc002bqd.3_Missense_Mutation_p.E596Q|UNC45A_uc010uqr.2_Missense_Mutation_p.E3Q|UNC45A_uc021suj.1_5'Flank	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	Homo sapiens unc-45 homolog A (C. elegans) (UNC45A), transcript variant 2, mRNA.	611					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding	p.V610V(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CAAGATGGTGGAGCTGGCCAA	0.627													3	11					0	0	0.150653	0	0	C	91491977	G	C	91491977	3	2	169	1	0	0	0	0	1	0	0	0	16985	1175	41	5	1881	5	UNC45A	15	91491977	Missense_Mutation	SNP	G	TCGA-HT-7476-01A-11D-2024-08	860139	91491977	11039415	14	7498											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			16	10					0	0	0.500413	0	0	A	7577121	G	A	7577121	3	1	169	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-7476-01A-11D-2024-08		7577121	73618089	15	7499											
MYH2	4620	broad.mit.edu	37	chr17	10440777	10440777	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacttgcccaggtgctggTcatacagcttgttcttgaag	8	12	11	10	0	2	2	1	1	1	1	2	2	2	2	1	2	4	3	1	2	2	5			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr17:10440777T>C	uc010coi.3	-	15	1798	c.1670A>G	c.(1669-1671)gAc>gGc	p.D557G	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.D557G|MYH2_uc010coj.3_Missense_Mutation_p.D557G	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	557	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAGGTGCTGGTCATACAGCTT	0.527													11	116					0	0	0.38729	0	0	C	10440777	T	C	10440777	3	2	169	1	0	0	0	0	1	0	0	0	10035	1667	58	3	4255	3	MYH2	17	10440777	Missense_Mutation	SNP	T	TCGA-HT-7476-01A-11D-2024-08	2863656	10440777	70754433	16	7500											
ELP2	55250	broad.mit.edu	37	chr18	33739707	33739707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcaaactaggagatatagCttctcagccttctgatgaag	12	12	8	9	0	3	3	2	2	2	1	4	4	3	3	1	1	3	1	1	1	5	6			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr18:33739707C>T	uc010xcg.2	+	15	1799	c.1739C>T	c.(1738-1740)gCt>gTt	p.A580V	ELP2_uc002kzk.2_Missense_Mutation_p.A515V|ELP2_uc002kzl.2_Non-coding_Transcript|ELP2_uc002kzm.2_Missense_Mutation_p.A489V|ELP2_uc010xch.2_Missense_Mutation_p.A510V|ELP2_uc002kzn.2_Missense_Mutation_p.A445V|ELP2_uc002kzo.2_Missense_Mutation_p.A445V	NM_001242875	NP_001229804	Q6IA86	ELP2_HUMAN	Homo sapiens elongation protein 2 homolog (S. cerevisiae) (ELP2), transcript variant 1, mRNA.	515					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						GGAGATATAGCTTCTCAGCCT	0.398													6	72					0	0	0.248553	0	0	T	33739707	C	T	33739707	3	4	169	1	0	0	0	0	1	0	0	0	5080	797	28	3	1602	3	ELP2	18	33739707	Missense_Mutation	SNP	C	TCGA-HT-7476-01A-11D-2024-08		33739707	44337541	17	7501											
FLRT3	23767	broad.mit.edu	37	chr20	14307457	14307457	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtcagggaattccgcacCagggacagctctgtcaaatt	11	8	11	11	1	3	0	2	0	1	0	4	2	4	2	2	2	1	3	2	2	2	2			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr20:14307457C>T	uc021war.1	-	0	696	c.696G>A	c.(694-696)ctG>ctA	p.L232L	MACROD2_uc002wot.3_Intron|MACROD2_uc002wou.3_Intron|FLRT3_uc002wov.2_Silent_p.L232L|FLRT3_uc002wow.2_Silent_p.L232L	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 3 (FLRT3), transcript variant 2, mRNA.	232					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		AATTCCGCACCAGGGACAGCT	0.453													18	46					0	0	0.520397	0	0	T	14307457	C	T	14307457	2	4	169	1	0	0	0	0	0	0	0	1	5940	581	21	3		3	FLRT3	20	14307457	Silent	SNP	C	TCGA-HT-7476-01A-11D-2024-08		14307457	48718063	18	7502											
TPTE	7179	broad.mit.edu	37	chr21	10973723	10973723	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacgtacgcataactcacCtttcattcatacgtgcctct	10	12	4	15	3	4	0	3	0	1	0	4	0	4	0	2	0	4	2	2	0	3	5			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr21:10973723C>G	uc002yip.1	-	4	379	c.11_splice	c.e4+1	p.S4_splice	TPTE_uc002yis.1_Splice_Site|TPTE_uc002yiq.1_Splice_Site_p.S4_splice|TPTE_uc002yir.1_Splice_Site_p.S4_splice|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	4					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CATAACTCACCTTTCATTCAT	0.383													12	84					0	0	0.520397	0	0	G	10973723	C	G	10973723	5	3	169	1	0	0	0	0	0	0	1	0	16427	695	24	5	1728	5	TPTE	21	10973723	Splice_Site	SNP	C	TCGA-HT-7476-01A-11D-2024-08		10973723	37156172	19	7503											
SSX1	6756	broad.mit.edu	37	chrX	48125816	48125816	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaccctgaggaagatgaCgagtaactccgtaagtgaac	14	7	12	8	2	0	5	0	4	0	1	1	7	1	6	2	1	2	2	2	1	4	2			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chrX:48125816C>T	uc004djb.1	+	6	652	c.561C>T	c.(559-561)gaC>gaT	p.D187D		NM_005635	NP_005626	Q16384	SSX1_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 1 (SSX1), mRNA.	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						AGGAAGATGACGAGTAACTCC	0.488			T	SS18	synovial sarcoma								7	97					0	0	0.248553	0	0	T	48125816	C	T	48125816	2	4	169	1	0	0	0	0	0	0	0	1	15202	535	19	1		1	SSX1	23	48125816	Silent	SNP	C	TCGA-HT-7476-01A-11D-2024-08		48125816	107144744	20	7504											
ATRX	546	broad.mit.edu	37	chrX	76939347	76939348	+	Frame_Shift_Del	DEL	TT	TT	-																															atgtgctcactatctacctgTtttcttgaaagtttagcttc																										TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chrX:76939347_76939348delTT	uc004ecp.4	-	8	1632_1633	c.1400_1401delAA	c.(1399-1401)aaafs	p.K467fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K429fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K252fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K428fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K467fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K412fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	467					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TATCTACCTGTTTTCTTGAAAG	0.356			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						103	67	---	---	---	---						-	76939348	TT	-	76939347	7	5	169	1	0	1	0	1	0	0	0	0	1208	1722	60	0	6185	0	ATRX	23	76939347	Frame_Shift_Del	DEL	TT	TCGA-HT-7476-01A-11D-2024-08	28813531	76939347	78331213	21	7505											
COX7B	1349	broad.mit.edu	37	chrX	77155051	77155051	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctagcttcaccttcacgAtgtttcccttggtcaaaagc	8	14	7	12	1	4	0	3	0	1	0	5	1	5	0	2	1	2	3	2	1	3	6			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chrX:77155051A>T	uc004ecu.1	+	0	91	c.1A>T	c.(1-3)Atg>Ttg	p.M1L		NM_001866	NP_001857	P24311	COX7B_HUMAN	Homo sapiens cytochrome c oxidase subunit VIIb (COX7B), nuclear gene encoding mitochondrial protein, mRNA.	1					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(2)	2						CACCTTCACGATGTTTCCCTT	0.443													10	3					0	0	0.361761	0	0	T	77155051	A	T	77155051	3	4	169	1	0	0	0	0	1	0	0	0	3782	333	12	5	3	5	COX7B	23	77155051	Missense_Mutation	SNP	A	TCGA-HT-7476-01A-11D-2024-08	215704	77155051	78115509	22	7506											
PCDH19	57526	broad.mit.edu	37	chrX	99662028	99662028	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaacgccttggtctgctcgTggttaaaggatcgcagcgcg	7	9	14	11	6	1	0	0	0	1	0	3	2	1	1	1	3	3	3	1	3	3	2			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chrX:99662028T>C	uc010nmz.3	-	0	3244	c.1568A>G	c.(1567-1569)cAc>cGc	p.H523R	PCDH19_uc004efw.4_Missense_Mutation_p.H523R|PCDH19_uc004efx.4_Missense_Mutation_p.H523R	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	523	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N522I(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GGTCTGCTCGTGGTTAAAGGA	0.582													42	26					0	0	0.853193	0	0	C	99662028	T	C	99662028	3	2	169	1	0	0	0	0	1	0	0	0	11514	1696	59	3	1902	3	PCDH19	23	99662028	Missense_Mutation	SNP	T	TCGA-HT-7476-01A-11D-2024-08	22506977	99662028	55608532	23	7507											
CROCC	9696	broad.mit.edu	37	chr1	17264170	17264170	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctggcagtgaagcgtcttGagaagcagaatctggagaag	12	7	15	7	1	2	4	0	2	2	3	2	6	2	4	1	2	2	2	1	2	4	1	rs141704732		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr1:17264170G>C	uc001azt.2	+	9	1297	c.1228G>C	c.(1228-1230)Gag>Cag	p.E410Q	CROCC_uc009voy.1_Missense_Mutation_p.E113Q|CROCC_uc009voz.1_Missense_Mutation_p.E173Q|CROCC_uc001azu.2_5'Flank	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	410					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GAAGCGTCTTGAGAAGCAGAA	0.572													5	30					0	0	1	0	0	C	17264170	G	C	17264170	3	2	170	1	0	0	0	0	1	0	0	0	3893	1291	45	5	1266	5	CROCC	1	17264170	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08		17264170	231986451	1	7508											
FCRL5	83416	broad.mit.edu	37	chr1	157514077	157514077	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acctgtatccaggatctcggGctgtcagatatgacgctgta	9	11	11	10	2	2	2	1	1	1	1	4	3	3	3	2	2	0	4	2	2	3	3			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr1:157514077G>T	uc009wsm.3	-	4	977	c.819C>A	c.(817-819)agC>agA	p.S273R	FCRL5_uc001fqu.3_Missense_Mutation_p.S273R|FCRL5_uc010phv.1_Missense_Mutation_p.S273R|FCRL5_uc010phw.1_Missense_Mutation_p.S188R|FCRL5_uc001fqv.1_Missense_Mutation_p.S273R|FCRL5_uc010phx.2_Missense_Mutation_p.S24R	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	273						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGGATCTCGGGCTGTCAGATA	0.512													126	145					1.13993e-56	1.24776e-56	1	1	0	T	157514077	G	T	157514077	3	4	170	1	0	0	0	0	1	0	0	0	5798	1194	42	5	2166	5	FCRL5	1	157514077	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	140249907	157514077	91736544	2	7509											
PTGS2	5743	broad.mit.edu	37	chr1	186643728	186643728	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtaggcaggagaacatatAacattacccataagtccttt	15	10	7	9	0	0	1	0	0	0	1	1	2	1	1	2	2	3	2	2	2	6	6			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr1:186643728A>G	uc001gsb.3	-	9	1709	c.1572T>C	c.(1570-1572)gtT>gtC	p.V524V	PTGS2_uc009wyo.3_Silent_p.V371V	NM_000963	NP_000954	P35354	PGH2_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (PTGS2), mRNA.	524					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)|gamma-Homolinolenic acid(DB00154)	GAGAACATATAACATTACCCA	0.458													21	105					0	0	1	0	0	G	186643728	A	G	186643728	2	3	170	1	0	0	0	0	0	0	0	1	12756	349	13	3		3	PTGS2	1	186643728	Silent	SNP	A	TCGA-HT-7477-01B-11D-A289-08	29129651	186643728	62606893	3	7510											
LAD1	3898	broad.mit.edu	37	chr1	201352455	201352455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccacccacccgtatggccGtgtggtatctctccagcttc	5	10	8	18	2	1	0	0	0	1	0	4	0	2	0	6	2	1	3	6	2	2	3			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr1:201352455G>A	uc001gwm.3	-	5	1473	c.1238C>T	c.(1237-1239)aCg>aTg	p.T413M		NM_005558	NP_005549	O00515	LAD1_HUMAN	Homo sapiens ladinin 1 (LAD1), mRNA.	413						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CCGTATGGCCGTGTGGTATCT	0.597													64	181					0	0	1	0	0	A	201352455	G	A	201352455	3	1	170	1	0	0	0	0	1	0	0	0	8599	1145	40	1	335	1	LAD1	1	201352455	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	14708727	201352455	47898166	4	7511											
RYR2	6262	broad.mit.edu	37	chr1	237804274	237804274	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattcagctttgattgaccTcttgggacgctgtgctcctg	5	15	10	11	1	2	2	1	2	1	0	3	3	3	3	2	1	2	3	2	1	1	5			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr1:237804274T>C	uc001hyl.1	+	46	7313	c.7193T>C	c.(7192-7194)cTc>cCc	p.L2398P		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2398	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.G2398V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGATTGACCTCTTGGGACGC	0.453													16	13					0	0	1	0	0	C	237804274	T	C	237804274	3	2	170	1	0	0	0	0	1	0	0	0	13769	1551	54	4	7379	4	RYR2	1	237804274	Missense_Mutation	SNP	T	TCGA-HT-7477-01B-11D-A289-08	36451819	237804274	11446347	5	7512											
C2orf68	388969	broad.mit.edu	37	chr2	85839085	85839085	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgcagcagtgccccggcCggggatgcggccccgcctcc	3	5	15	18	4	0	0	0	0	0	0	1	1	1	1	7	4	4	3	7	4	0	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:85839085C>G	uc002sqc.2	-	0	95	c.23G>C	c.(22-24)cGg>cCg	p.R8P	USP39_uc002sqb.3_Intron|USP39_uc010ysu.2_5'Flank|USP39_uc010ysv.2_5'Flank|C2orf68_uc002sqd.2_Missense_Mutation_p.R8P	NM_001013649	NP_001013671	Q2NKX9	CB068_HUMAN	Homo sapiens chromosome 2 open reading frame 68 (C2orf68), mRNA.	8										breast(1)|central_nervous_system(1)|endometrium(1)	3						GTGCCCCGGCCGGGGATGCGG	0.731													6	18					0	0	1	0	0	G	85839085	C	G	85839085	3	3	170	1	0	0	0	0	1	0	0	0	2187	652	23	5	493	5	C2orf68	2	85839085	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08		85839085	157360288	6	7513											
GPR45	11250	broad.mit.edu	37	chr2	105858985	105858985	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcctcaacacggtccgcAagaacgccgtgcgcgtgcac	9	5	11	16	6	1	1	1	0	0	1	3	1	3	1	3	1	4	3	3	1	3	0			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:105858985A>G	uc002tco.1	+	0	786	c.670A>G	c.(670-672)Aag>Gag	p.K224E		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	Homo sapiens G protein-coupled receptor 45 (GPR45), mRNA.	224						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CACGGTCCGCAAGAACGCCGT	0.672													23	62					0	0	1	0	0	G	105858985	A	G	105858985	3	3	170	1	0	0	0	0	1	0	0	0	6696	131	5	3	672	3	GPR45	2	105858985	Missense_Mutation	SNP	A	TCGA-HT-7477-01B-11D-A289-08	20019900	105858985	137340388	7	7514											
TTN	7273	broad.mit.edu	37	chr2	179588855	179588855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcagtcttcgtgtgaaagagGgaggaactgctcggtctgtg	8	11	15	7	2	3	2	1	1	2	1	5	4	3	4	0	3	2	1	0	3	2	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:179588855G>A	uc021vsy.1	-	69	17624	c.17399C>T	c.(17398-17400)cCc>cTc	p.P5800L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P2461L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6727	Ig-like 39.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTGAAAGAGGGAGGAACTGC	0.423													12	8					0	0	1	0	0	A	179588855	G	A	179588855	3	1	170	1	0	0	0	0	1	0	0	0	16732	1232	43	3	83558	3	TTN	2	179588855	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	73729870	179588855	63610518	8	7515											
DNAH7	56171	broad.mit.edu	37	chr2	196749379	196749379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagttagtgcctttgaggatGtttgctcagtaccactctgt	7	15	10	9	0	2	1	1	1	1	0	2	2	2	2	2	1	3	4	2	1	2	4			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:196749379G>A	uc002utj.4	-	34	5794	c.5693C>T	c.(5692-5694)aCa>aTa	p.T1898I		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1898					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						CTTTGAGGATGTTTGCTCAGT	0.358													13	35					0	0	1	0	0	A	196749379	G	A	196749379	3	1	170	1	0	0	0	0	1	0	0	0	4606	1377	48	3	6505	3	DNAH7	2	196749379	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	17160524	196749379	46449994	9	7516											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								25	22					0	0	1	0	0	T	209113112	C	T	209113112	3	4	170	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08	12363733	209113112	34086261	10	7517											
ANKMY1	51281	broad.mit.edu	37	chr2	241468460	241468460	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcagactagtcacctgaacTtgtaagtttgcttctggatt	10	14	9	8	0	2	2	1	1	1	1	2	3	2	3	1	1	3	4	1	1	3	6			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:241468460T>G	uc010fzd.1	-	4	1072	c.947A>C	c.(946-948)aAg>aCg	p.K316T	ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vyz.1_Missense_Mutation_p.K227T|ANKMY1_uc002vza.1_Intron|ANKMY1_uc002vzd.1_Intron|ANKMY1_uc010fze.2_Intron|ANKMY1_uc002vze.3_Intron	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA.	227							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TCACCTGAACTTGTAAGTTTG	0.522													26	117					0	0	1	0	0	G	241468460	T	G	241468460	3	3	170	1	0	0	0	0	1	0	0	0	634	1609	56	5	2201	5	ANKMY1	2	241468460	Missense_Mutation	SNP	T	TCGA-HT-7477-01B-11D-A289-08	32355348	241468460	1730913	11	7518											
NBEAL2	23218	broad.mit.edu	37	chr3	47038035	47038035	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgggggctgtggccatctTtcacgaagccctgcaggcga	6	8	15	12	2	2	0	1	0	1	0	2	2	2	0	2	4	2	3	2	4	1	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr3:47038035T>C	uc003cqp.3	+	15	2605	c.2426T>C	c.(2425-2427)tTt>tCt	p.F809S	NBEAL2_uc010hjm.2_Missense_Mutation_p.F370S	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	809							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GTGGCCATCTTTCACGAAGCC	0.657													6	10					0	0	1	0	0	C	47038035	T	C	47038035	3	2	170	1	0	0	0	0	1	0	0	0	10189	1841	64	3	2488	3	NBEAL2	3	47038035	Missense_Mutation	SNP	T	TCGA-HT-7477-01B-11D-A289-08		47038035	150984395	12	7519											
P2RY12	64805	broad.mit.edu	37	chr3	151056104	151056104	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgaactctgatttaaggAaagagcatttcttcacattc	13	12	7	9	1	3	2	1	1	2	1	4	5	3	3	1	1	2	1	1	1	3	5			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr3:151056104A>T	uc003eyw.1	-	1	746	c.530T>A	c.(529-531)tTc>tAc	p.F177Y	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Missense_Mutation_p.F177Y|P2RY12_uc021xga.1_Missense_Mutation_p.F177Y	NM_176876	NP_795345	Q9H244	P2Y12_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 12 (P2RY12), transcript variant 2, mRNA.	177					platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	TGATTTAAGGAAAGAGCATTT	0.368													18	49					0	0	1	0	0	T	151056104	A	T	151056104	3	4	170	1	0	0	0	0	1	0	0	0	11349	246	9	5	502	5	P2RY12	3	151056104	Missense_Mutation	SNP	A	TCGA-HT-7477-01B-11D-A289-08	104018069	151056104	46966326	13	7520											
RGS12	6002	broad.mit.edu	37	chr4	3318009	3318009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctacggattcacgctttcgGgacaggcaccctgtgtgctc	6	10	12	13	3	1	0	1	0	0	0	3	2	1	2	1	3	2	4	1	3	1	3			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:3318009G>A	uc003ggw.3	+	1	1016	c.112G>A	c.(112-114)Gga>Aga	p.G38R	RGS12_uc003ggu.2_Missense_Mutation_p.G38R|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Missense_Mutation_p.G38R|RGS12_uc003ggx.1_Missense_Mutation_p.G38R	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	38	PDZ.					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)		CACGCTTTCGGGACAGGCACC	0.637													18	170					0	0	1	0	0	A	3318009	G	A	3318009	3	1	170	1	0	0	0	0	1	0	0	0	13295	1233	43	3	114	3	RGS12	4	3318009	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08		3318009	187836267	14	7521											
FRYL	285527	broad.mit.edu	37	chr4	48536663	48536663	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagactataaataatctgtaGtaatgattgctgcatactgg	14	14	8	5	0	1	2	0	1	1	1	1	2	1	2	0	1	3	4	0	1	8	8			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:48536663G>A	uc003gyh.1	-	48	7209	c.6604C>T	c.(6604-6606)Cta>Tta	p.L2202L	FRYL_uc003gyg.1_Silent_p.L898L|FRYL_uc003gyi.1_Silent_p.L1090L|FRYL_uc003gyj.1_Silent_p.L497L	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	2202					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATAATCTGTAGTAATGATTGC	0.313													34	15					0	0	1	0	0	A	48536663	G	A	48536663	2	1	170	1	0	0	0	0	0	0	0	1	6064	1020	36	3		3	FRYL	4	48536663	Silent	SNP	G	TCGA-HT-7477-01B-11D-A289-08	45218654	48536663	142617613	15	7522											
SRP72	6731	broad.mit.edu	37	chr4	57340270	57340270	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttagcagtgtatagagatctCgtccgaaactcccaagatga	13	10	9	9	2	1	3	0	1	1	2	4	5	3	3	2	0	2	2	2	0	5	3			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:57340270C>T	uc003hbv.3	+	3	445	c.405C>T	c.(403-405)ctC>ctT	p.L135L	SRP72_uc010ihe.3_Silent_p.L135L	NM_006947	NP_008878	O76094	SRP72_HUMAN	Homo sapiens signal recognition particle 72kDa (SRP72), mRNA.	135					SRP-dependent cotranslational protein targeting to membrane|response to drug	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					ATAGAGATCTCGTCCGAAACT	0.378													9	205					0	0	1	0	0	T	57340270	C	T	57340270	2	4	170	1	0	0	0	0	0	0	0	1	15156	871	31	2		2	SRP72	4	57340270	Silent	SNP	C	TCGA-HT-7477-01B-11D-A289-08	8803607	57340270	133814006	16	7523											
C4orf21	55345	broad.mit.edu	37	chr4	113475127	113475127	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttcactttcattttctgagCcagcatgcaagctaaagaat	12	13	7	9	0	3	2	2	1	1	1	3	2	3	2	1	0	4	4	1	0	4	5			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:113475127C>A	uc003iau.3	-	21	5421	c.5210G>T	c.(5209-5211)gGc>gTc	p.G1737V	C4orf21_uc003iav.3_Non-coding_Transcript|C4orf21_uc003iat.3_Missense_Mutation_p.G195V	NM_018392	NP_060862	Q86YA3	CD021_HUMAN	Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ATTTTCTGAGCCAGCATGCAA	0.313													13	116					1.5739e-10	1.59357e-10	1	1	0	A	113475127	C	A	113475127	3	1	170	1	0	0	0	0	1	0	0	0	2254	739	26	5	1132	5	C4orf21	4	113475127	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08	56134857	113475127	77679149	17	7524											
BBS12	166379	broad.mit.edu	37	chr4	123664898	123664898	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaatttgaagccagcacAtacattcaacatcatctgca	15	10	5	11	0	4	2	3	1	1	1	4	2	4	2	1	0	5	2	1	0	4	3			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:123664898A>G	uc021xrm.1	+	2	2232	c.1851A>G	c.(1849-1851)acA>acG	p.T617T	BBS12_uc003ieu.3_Silent_p.T617T|BBS12_uc021xrn.1_Silent_p.T617T	NM_001178007	NP_689831	Q6ZW61	BBS12_HUMAN	Homo sapiens Bardet-Biedl syndrome 12 (BBS12), transcript variant 1, mRNA.	617					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AAGCCAGCACATACATTCAAC	0.363									Bardet-Biedl syndrome				12	40					0	0	1	0	0	G	123664898	A	G	123664898	2	3	170	1	0	0	0	0	0	0	0	1	1337	204	8	3		3	BBS12	4	123664898	Silent	SNP	A	TCGA-HT-7477-01B-11D-A289-08	10189771	123664898	67489378	18	7525											
NR3C2	4306	broad.mit.edu	37	chr4	149075976	149075976	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctttgcgggggtgggggTgggggtgggggctgctgctg	0	9	27	5	1	0	0	0	0	0	0	0	0	0	0	0	9	3	4	0	9	0	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:149075976T>G	uc003ilj.4	-	4	2454	c.2091A>C	c.(2089-2091)ccA>ccC	p.P697P	NR3C2_uc003ilk.4_Intron|NR3C2_uc010iph.3_Intron	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	697	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527													8	14					0	0	1	0	0	G	149075976	T	G	149075976	2	3	170	1	0	0	0	0	0	0	0	1	10631	1683	59	5		5	NR3C2	4	149075976	Silent	SNP	T	TCGA-HT-7477-01B-11D-A289-08	25411078	149075976	42078300	19	7526											
TRIML2	205860	broad.mit.edu	37	chr4	189018488	189018488	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaactcacctttctaaagAgtattttgcattctaaggga	14	13	7	7	0	3	1	1	0	2	1	3	3	3	2	1	1	2	2	1	1	6	7			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:189018488A>G	uc011cle.1	-	5	931	c.709T>C	c.(709-711)Tct>Cct	p.S237P	TRIML2_uc003izj.1_Intron|TRIML2_uc003izk.1_Intron|TRIML2_uc003izl.2_Missense_Mutation_p.S162P	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	162	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CTTTCTAAAGAGTATTTTGCA	0.383													41	57					0	0	1	0	0	G	189018488	A	G	189018488	3	3	170	1	0	0	0	0	1	0	0	0	16548	304	11	4	691	4	TRIML2	4	189018488	Missense_Mutation	SNP	A	TCGA-HT-7477-01B-11D-A289-08	39942512	189018488	2135788	20	7527											
CDH9	1007	broad.mit.edu	37	chr5	26881636	26881636	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttccccgccgccttcatcgTtgtaggtcacaatgttgtcc	5	13	8	15	3	2	0	2	0	0	0	5	0	4	0	5	1	0	3	5	1	2	5			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr5:26881636T>C	uc003jgs.1	-	11	2148	c.1979A>G	c.(1978-1980)aAc>aGc	p.N660S	CDH9_uc011cnv.1_Missense_Mutation_p.N253S	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	660					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GCCTTCATCGTTGTAGGTCAC	0.428													36	120					0	0	1	0	0	C	26881636	T	C	26881636	3	2	170	1	0	0	0	0	1	0	0	0	3117	1725	60	3	394	3	CDH9	5	26881636	Missense_Mutation	SNP	T	TCGA-HT-7477-01B-11D-A289-08		26881636	154033624	21	7528											
EGFLAM	133584	broad.mit.edu	37	chr5	38338820	38338820	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttttactctgaggttggCgcagataaatccctgcagga	9	12	11	9	1	2	2	0	1	2	1	3	3	3	3	1	3	2	3	1	3	3	4	rs142461042		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr5:38338820C>T	uc003jlc.2	+	2	574	c.228C>T	c.(226-228)ggC>ggT	p.G76G	EGFLAM_uc003jlb.2_Silent_p.G76G	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	76	Fibronectin type-III 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CTGAGGTTGGCGCAGATAAAT	0.532													24	25					0	0	1	0	0	T	38338820	C	T	38338820	2	4	170	1	0	0	0	0	0	0	0	1	4966	755	27	1		1	EGFLAM	5	38338820	Silent	SNP	C	TCGA-HT-7477-01B-11D-A289-08	11457184	38338820	142576440	22	7529											
CDKL3	51265	broad.mit.edu	37	chr5	133695594	133695594	+	Frame_Shift_Del	DEL	A	A	-																															tctgaagcacttacattattActgtgaagatagtcaattgc																										TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr5:133695594delA	uc003kzf.4	-	2	473	c.354delT	c.(352-354)agtfs	p.S118fs	CDKL3_uc011cxm.1_Intron|CDKL3_uc011cxn.1_Intron|CDKL3_uc010jdw.2_Intron|CDKL3_uc011cxo.1_Intron|CDKL3_uc011cxp.1_Intron|CDKL3_uc011cxq.2_5'UTR|CDKL3_uc003kzg.4_Frame_Shift_Del_p.S118fs|CDKL3_uc011cxr.1_Frame_Shift_Del_p.S118fs	NM_001113575	NP_001107047	Q8IVW4	CDKL3_HUMAN	Homo sapiens cyclin-dependent kinase-like 3 (CDKL3), transcript variant 1, mRNA.	118	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTACATTATTACTGTGAAGAT	0.338													2	4	---	---	---	---						-	133695594	A	-	133695594	7	5	170	1	0	1	0	1	0	0	0	0	3155	388	14	0	1472	0	CDKL3	5	133695594	Frame_Shift_Del	DEL	A	TCGA-HT-7477-01B-11D-A289-08	95356774	133695594	47219666	23	7530											
SLC26A2	1836	broad.mit.edu	37	chr5	149357883	149357883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctatgcaattatggttggcaGcactgtaacctttatagctg	10	14	9	8	0	0	0	0	0	0	0	0	0	0	0	1	2	4	6	1	2	6	7			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr5:149357883G>A	uc003lrh.3	+	1	936	c.668G>A	c.(667-669)aGc>aAc	p.S223N		NM_000112	NP_000103	P50443	S26A2_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 2 (SLC26A2), mRNA.	223						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ATGGTTGGCAGCACTGTAACC	0.353													44	37					0	0	1	0	0	A	149357883	G	A	149357883	3	1	170	1	0	0	0	0	1	0	0	0	14517	971	34	3	670	3	SLC26A2	5	149357883	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	15662289	149357883	31557377	24	7531											
PGK2	5232	broad.mit.edu	37	chr6	49754106	49754106	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggccatgatatctttaacGatcttggctccctcttcatc	7	16	6	12	1	4	1	1	1	3	0	6	2	5	1	2	2	1	1	2	2	2	6			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr6:49754106G>A	uc003ozu.3	-	0	948	c.795C>T	c.(793-795)atC>atT	p.I265I		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	265					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.K264T(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TATCTTTAACGATCTTGGCTC	0.418													26	143					0	0	1	0	0	A	49754106	G	A	49754106	2	1	170	1	0	0	0	0	0	0	0	1	11791	1048	37	2		2	PGK2	6	49754106	Silent	SNP	G	TCGA-HT-7477-01B-11D-A289-08		49754106	121360961	25	7532											
RIMS1	22999	broad.mit.edu	37	chr6	72967911	72967911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaactcatcaccgctcaCgttcagtatctcctcatcgc	10	10	5	16	3	6	0	5	0	1	0	8	1	6	0	2	0	2	3	2	0	3	2			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr6:72967911C>T	uc003pga.3	+	16	2931	c.2854C>T	c.(2854-2856)Cgt>Tgt	p.R952C	RIMS1_uc011dyb.2_Missense_Mutation_p.R577C|RIMS1_uc003pgc.3_Missense_Mutation_p.R578C|RIMS1_uc010kaq.3_Missense_Mutation_p.R425C|RIMS1_uc011dyc.2_Missense_Mutation_p.R426C|RIMS1_uc010kar.3_Missense_Mutation_p.R345C|RIMS1_uc011dyd.2_Missense_Mutation_p.R411C|RIMS1_uc003pge.3_Missense_Mutation_p.R169C|RIMS1_uc003pgf.3_Missense_Mutation_p.R168C|RIMS1_uc003pgi.3_Missense_Mutation_p.R168C|RIMS1_uc003pgg.3_Missense_Mutation_p.R169C|RIMS1_uc003pgh.3_Missense_Mutation_p.R168C|RIMS1_uc003pgd.3_Missense_Mutation_p.R169C|RIMS1_uc011dye.2_5'UTR|RIMS1_uc011dyf.2_5'Flank|RIMS1_uc003pgb.4_Missense_Mutation_p.R578C|RIMS1_uc010kas.1_Missense_Mutation_p.R411C	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	952					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TCACCGCTCACGTTCAGTATC	0.463													12	18					0	0	1	0	0	T	72967911	C	T	72967911	3	4	170	1	0	0	0	0	1	0	0	0	13367	536	19	1	3083	1	RIMS1	6	72967911	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08	23213805	72967911	98147156	26	7533											
TTK	7272	broad.mit.edu	37	chr6	80720598	80720598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagcagtaccactagaaatGctggaaattgccctgcggaa	13	7	12	9	1	0	1	0	0	0	1	0	4	0	4	2	3	5	3	2	3	5	3			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr6:80720598G>A	uc003pjc.3	+	4	648	c.537G>A	c.(535-537)atG>atA	p.M179I	TTK_uc003pjb.4_Missense_Mutation_p.M179I	NM_003318	NP_003309	P33981	TTK_HUMAN	Homo sapiens TTK protein kinase (TTK), transcript variant 1, mRNA.	179					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CACTAGAAATGCTGGAAATTG	0.348													20	42					0	0	1	0	0	A	80720598	G	A	80720598	3	1	170	1	0	0	0	0	1	0	0	0	16717	1319	46	3	551	3	TTK	6	80720598	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	7752687	80720598	90394469	27	7534											
TULP4	56995	broad.mit.edu	37	chr6	158923248	158923248	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaccacagcagcacccccGccccctctgccgcccccaca	7	2	5	27	2	1	0	0	0	1	0	1	0	1	0	9	0	3	2	9	0	0	0			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr6:158923248G>C	uc003qrf.3	+	12	3910	c.2553G>C	c.(2551-2553)ccG>ccC	p.P851P	TULP4_uc003qrg.3_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	851					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAGCACCCCCGCCCCCTCTGC	0.657													4	9					0	0	1	0	0	C	158923248	G	C	158923248	2	2	170	1	0	0	0	0	0	0	0	1	16773	1074	38	5		5	TULP4	6	158923248	Silent	SNP	G	TCGA-HT-7477-01B-11D-A289-08	78202650	158923248	12191819	28	7535											
CARD11	84433	broad.mit.edu	37	chr7	2963945	2963945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggccctcggattggtgggagGaggaggaggagtggatggag	8	6	23	4	1	0	0	0	0	0	0	1	8	0	8	1	10	0	0	1	10	0	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr7:2963945G>A	uc003smv.3	-	14	2196	c.1862C>T	c.(1861-1863)tCc>tTc	p.S621F		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	621					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTGGTGGGAGGAGGAGGAGGA	0.607			Mis		DLBCL								27	63					0	0	1	0	0	A	2963945	G	A	2963945	3	1	170	1	0	0	0	0	1	0	0	0	2645	1174	41	3	1646	3	CARD11	7	2963945	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08		2963945	156174718	29	7536											
DBNL	28988	broad.mit.edu	37	chr7	44097451	44097451	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaagacagcttctgggccaAagcagaggtgagtgctgccc	11	7	13	10	0	1	3	0	1	1	2	1	3	1	3	2	2	4	3	2	2	3	2			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr7:44097451A>G	uc003tjp.4	+	5	643	c.545A>G	c.(544-546)aAa>aGa	p.K182R	DBNL_uc003tjo.4_Missense_Mutation_p.K182R|DBNL_uc003tjq.4_Missense_Mutation_p.K182R|DBNL_uc011kbm.2_Missense_Mutation_p.K157R|DBNL_uc011kbo.2_Missense_Mutation_p.K82R|DBNL_uc011kbp.2_Missense_Mutation_p.K133R|DBNL_uc011kbq.2_Missense_Mutation_p.K107R|DBNL_uc011kbn.2_Missense_Mutation_p.K79R|DBNL_uc011kbr.2_Missense_Mutation_p.K130R|DBNL_uc011kbs.2_Missense_Mutation_p.K79R	NM_001014436	NP_001014436	Q9UJU6	DBNL_HUMAN	Homo sapiens drebrin-like (DBNL), transcript variant 2, mRNA.	182					Rac protein signal transduction|activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						TTCTGGGCCAAAGCAGAGGTG	0.547													27	41					0	0	1	0	0	G	44097451	A	G	44097451	3	3	170	1	0	0	0	0	1	0	0	0	4255	14	1	3	567	3	DBNL	7	44097451	Missense_Mutation	SNP	A	TCGA-HT-7477-01B-11D-A289-08	41133506	44097451	115041212	30	7537											
TRIP6	7205	broad.mit.edu	37	chr7	100465834	100465834	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgggggtcggggtcatgcGtcacggcgaccagaccgaca	9	5	16	11	5	2	1	2	0	0	1	3	3	2	1	2	5	1	0	2	5	1	0			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr7:100465834G>A	uc003uww.3	+	2	512	c.342G>A	c.(340-342)gcG>gcA	p.A114A	TRIP6_uc010lhk.2_5'UTR|TRIP6_uc022aiv.1_Silent_p.A93A|TRIP6_uc022ait.1_5'UTR|TRIP6_uc022aiu.1_5'UTR	NM_003302	NP_003293	Q15654	TRIP6_HUMAN	Homo sapiens thyroid hormone receptor interactor 6 (TRIP6), mRNA.	114					focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGGGTCATGCGTCACGGCGAC	0.662													19	40					0	0	1	0	0	A	100465834	G	A	100465834	2	1	170	1	0	0	0	0	0	0	0	1	16556	1132	40	1		1	TRIP6	7	100465834	Silent	SNP	G	TCGA-HT-7477-01B-11D-A289-08	56368383	100465834	58672829	31	7538											
LRRC4	64101	broad.mit.edu	37	chr7	127668930	127668930	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccccctcacctgatacaccGgacggagctgctgttgctgc	6	8	11	16	2	1	1	1	1	0	0	1	3	1	3	4	2	5	4	4	2	1	2	rs139849197		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr7:127668930G>C	uc003vmk.3	-	1	1901	c.1764C>G	c.(1762-1764)tcC>tcG	p.S588S	SND1_uc003vmi.3_Intron|SND1_uc010lle.3_Intron|LRRC4_uc022akv.1_Silent_p.S588S	NM_022143	NP_071426	Q9HBW1	LRRC4_HUMAN	Homo sapiens leucine rich repeat containing 4 (LRRC4), mRNA.	588						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		CTGATACACCGGACGGAgctg	0.547													20	21					0	0	1	0	0	C	127668930	G	C	127668930	2	2	170	1	0	0	0	0	0	0	0	1	8997	1103	39	5		5	LRRC4	7	127668930	Silent	SNP	G	TCGA-HT-7477-01B-11D-A289-08	27203096	127668930	31469733	32	7539											
PSD3	23362	broad.mit.edu	37	chr8	18729531	18729531	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttcgatcacatcccccTgggtgctctctcccaagagc	6	10	8	17	1	2	1	1	0	1	1	6	2	4	1	3	1	3	2	3	1	1	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr8:18729531T>A	uc003wza.3	-	2	946	c.843A>T	c.(841-843)ccA>ccT	p.P281P		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	281					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CACATCCCCCTGGGTGCTCTC	0.567													24	110					0	0	1	0	0	A	18729531	T	A	18729531	2	1	170	1	0	0	0	0	0	0	0	1	12648	1567	55	5		5	PSD3	8	18729531	Silent	SNP	T	TCGA-HT-7477-01B-11D-A289-08		18729531	127634491	33	7540											
FUT10	84750	broad.mit.edu	37	chr8	33246920	33246920	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggcatccatagaggctggaTttttcagctgctgagggagg	8	10	15	8	1	1	2	1	1	0	1	2	4	2	4	1	5	2	4	1	5	1	3			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr8:33246920T>C	uc011lbi.2	-	3	1089	c.923A>G	c.(922-924)aAt>aGt	p.N308S	FUT10_uc003xjc.3_Missense_Mutation_p.N265S|FUT10_uc003xjd.3_Missense_Mutation_p.N230S|FUT10_uc003xje.3_Missense_Mutation_p.N258S|FUT10_uc003xjf.3_Missense_Mutation_p.N196S|FUT10_uc003xjg.3_Missense_Mutation_p.N230S|FUT10_uc003xjh.3_Missense_Mutation_p.N258S			Q6P4F1	FUT10_HUMAN	Homo sapiens fucosyltransferase 10 (alpha (1,3) fucosyltransferase) (FUT10), mRNA.	258					L-fucose catabolic process|embryo development|fertilization|hemopoiesis|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		AGAGGCTGGATTTTTCAGCTG	0.438													59	76					0	0	1	0	0	C	33246920	T	C	33246920	3	2	170	1	0	0	0	0	1	0	0	0	6102	1493	52	3	674	3	FUT10	8	33246920	Missense_Mutation	SNP	T	TCGA-HT-7477-01B-11D-A289-08	14517389	33246920	113117102	34	7541											
ADAM2	2515	broad.mit.edu	37	chr8	39624672	39624672	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttttcaaaaagctcttacTagacagttttcgcagcatgg	12	14	7	8	1	2	1	1	0	1	1	3	1	2	1	0	1	3	4	0	1	4	6			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr8:39624672T>C	uc003xnj.3	-	13	1386	c.1311_splice	c.e13+1	p.L437_splice	ADAM2_uc003xnk.3_Splice_Site_p.L418_splice|ADAM2_uc011lck.2_Splice_Site_p.L437_splice|ADAM2_uc003xnl.3_Splice_Site_p.L311_splice	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	437	Disintegrin.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AAGCTCTTACTAGACAGTTTT	0.343													70	81					0	0	1	0	0	C	39624672	T	C	39624672	5	2	170	1	0	0	0	0	0	0	1	0	241	1536	53	4	928	4	ADAM2	8	39624672	Splice_Site	SNP	T	TCGA-HT-7477-01B-11D-A289-08	6377752	39624672	106739350	35	7542											
CDC14B	8555	broad.mit.edu	37	chr9	99296298	99296298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtaggggtgctgccatccGcaaagaaaagatcatggtga	13	7	13	8	1	1	3	1	1	0	2	2	3	2	3	2	3	2	3	2	3	4	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr9:99296298G>A	uc004awj.3	-	8	1309	c.857C>T	c.(856-858)gCg>gTg	p.A286V	CDC14B_uc004awk.3_Missense_Mutation_p.A286V|CDC14B_uc004awl.3_Non-coding_Transcript|CDC14B_uc004awi.3_Missense_Mutation_p.A249V	NM_033331	NP_201588	O60729	CC14B_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog B (S. cerevisiae) (CDC14B), transcript variant 2, mRNA.	286	B.				DNA repair|G2/M transition DNA damage checkpoint|activation of anaphase-promoting complex activity	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				GCTGCCATCCGCAAAGAAAAG	0.413													3	32					0	0	1	0	0	A	99296298	G	A	99296298	3	1	170	1	0	0	0	0	1	0	0	0	3057	1087	38	1	663	1	CDC14B	9	99296298	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08		99296298	41917133	36	7543											
FPGS	2356	broad.mit.edu	37	chr9	130569293	130569293	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgggagcggatccgcatcaAtgggcagcccatcagtcctg	8	7	13	13	3	2	0	2	0	0	0	5	2	4	2	3	3	2	2	3	3	1	0			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr9:130569293A>G	uc004bsg.1	+	4	478	c.428A>G	c.(427-429)aAt>aGt	p.N143S	FPGS_uc004bsh.1_5'UTR|FPGS_uc011mal.1_Missense_Mutation_p.N143S|FPGS_uc004bsi.1_Missense_Mutation_p.N93S	NM_004957	NP_004948	Q05932	FOLC_HUMAN	Homo sapiens folylpolyglutamate synthase (FPGS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	143					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	ATCCGCATCAATGGGCAGCCC	0.657													39	136					0	0	1	0	0	G	130569293	A	G	130569293	3	3	170	1	0	0	0	0	1	0	0	0	6036	101	4	3	446	3	FPGS	9	130569293	Missense_Mutation	SNP	A	TCGA-HT-7477-01B-11D-A289-08	31272995	130569293	10644138	37	7544											
ZER1	10444	broad.mit.edu	37	chr9	131503855	131503855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcatgccgttgaaattgaGgaacatctcgcagttgtcag	10	12	10	9	2	3	2	2	2	1	0	4	3	3	3	1	1	2	3	1	1	2	4			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr9:131503855G>A	uc004bwa.1	-	10	2129	c.1696C>T	c.(1696-1698)Ctc>Ttc	p.L566F		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	Homo sapiens zer-1 homolog (C. elegans) (ZER1), mRNA.	566					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						TTGAAATTGAGGAACATCTCG	0.567													39	175					0	0	1	0	0	A	131503855	G	A	131503855	3	1	170	1	0	0	0	0	1	0	0	0	17622	1000	35	3	628	3	ZER1	9	131503855	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	934562	131503855	9709576	38	7545											
PLAC9	219348	broad.mit.edu	37	chr10	81901857	81901857	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccgaacccttcagcccTccgcgaggagactcagctca	8	6	10	17	3	3	1	3	0	0	1	4	4	4	1	4	1	4	2	4	1	1	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr10:81901857T>A	uc001kbp.1	+	1	345	c.84T>A	c.(82-84)ccT>ccA	p.P28P		NM_001012973	NP_001012991	Q5JTB6	PLAC9_HUMAN	Homo sapiens placenta-specific 9 (PLAC9), mRNA.	28						extracellular region				kidney(1)|ovary(1)	2	Prostate(51;0.0095)|all_epithelial(25;0.175)		Colorectal(32;0.109)			CCTTCAGCCCTCCGCGAGGAG	0.532													8	51					0	0	1	0	0	A	81901857	T	A	81901857	2	1	170	1	0	0	0	0	0	0	0	1	12017	1538	54	5		5	PLAC9	10	81901857	Silent	SNP	T	TCGA-HT-7477-01B-11D-A289-08		81901857	53632890	39	7546											
OR51D1	390038	broad.mit.edu	37	chr11	4661741	4661741	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctgtgggctgttttggagCtgtcctctcggagggcagca	4	12	15	10	1	1	0	0	0	1	0	4	2	3	2	2	4	2	5	2	4	0	2			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr11:4661741C>A	uc010qyk.2	+	0	797	c.721C>A	c.(721-723)Ctg>Atg	p.L241M		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTTTTGGAGCTGTCCTCTCG	0.512													17	37					2.35188e-11	2.41142e-11	1	1	0	A	4661741	C	A	4661741	3	1	170	1	0	0	0	0	1	0	0	0	11093	796	28	5	723	5	OR51D1	11	4661741	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08		4661741	130344775	40	7547											
OR4S2	219431	broad.mit.edu	37	chr11	55419308	55419308	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgttttcttggaggctaaagGgaaatagttggacttaataa	13	14	11	3	0	1	0	0	0	1	0	1	3	1	3	0	4	0	3	0	4	6	8			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr11:55419308G>T	uc001nhs.1	+	0	929	c.929G>T	c.(928-930)gGg>gTg	p.G310V		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GAGGCTAAAGGGAAATAGTTG	0.363													62	85					1.38814e-16	1.46025e-16	1	1	0	T	55419308	G	T	55419308	3	4	170	1	0	0	0	0	1	0	0	0	11083	1232	43	5	931	5	OR4S2	11	55419308	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	50757567	55419308	79587208	41	7548											
FAT3	120114	broad.mit.edu	37	chr11	92624025	92624025	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccccaacgaaacggatttgGtgggcccgcctgccagctgt	7	8	12	14	3	0	0	0	0	0	0	1	2	1	1	5	3	4	1	5	3	2	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr11:92624025G>T	uc001pdj.4	+	24	13437	c.13420G>T	c.(13420-13422)Gtg>Ttg	p.V4474L	FAT3_uc001pdi.4_Missense_Mutation_p.V946L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4506	Pro-rich.				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)				AACGGATTTGGTGGGCCCGCC	0.582										TCGA Ovarian(4;0.039)			23	36					9.95505e-16	1.03379e-15	1	1	0	T	92624025	G	T	92624025	3	4	170	1	0	0	0	0	1	0	0	0	5691	1261	44	5	13518	5	FAT3	11	92624025	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	37204717	92624025	42382491	42	7549											
PRMT8	56341	broad.mit.edu	37	chr12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggtgaacagcccccccTcccagcccccccagcccgtc	6	4	7	24	1	1	1	1	1	0	0	3	1	2	1	8	1	4	0	8	1	1	0			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr12:3649787T>C	uc001qmf.3	+	1	458	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_uc009zed.3_Missense_Mutation_p.S22P|PRMT8_uc009zee.1_Non-coding_Transcript	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	Homo sapiens protein arginine methyltransferase 8 (PRMT8), mRNA.	31					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652													11	110					0	0	1	0	0	C	3649787	T	C	3649787	3	2	170	1	0	0	0	0	1	0	0	0	12542	1551	54	4	97	4	PRMT8	12	3649787	Missense_Mutation	SNP	T	TCGA-HT-7477-01B-11D-A289-08		3649787	130202108	43	7550											
TUBGCP3	10426	broad.mit.edu	37	chr13	113181323	113181323	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgggagtctgatcatgacaAacttggtgcaagaaatttat	13	12	11	5	0	2	3	1	2	1	1	2	4	2	4	0	2	2	1	0	2	4	3			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr13:113181323A>C	uc001vse.1	-	12	1675	c.1488T>G	c.(1486-1488)gtT>gtG	p.V496V	TUBGCP3_uc010tjq.1_Silent_p.V486V|TUBGCP3_uc001vsf.3_Silent_p.V496V	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA.	496					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GATCATGACAAACTTGGTGCA	0.398													9	38					0	0	1	0	0	C	113181323	A	C	113181323	2	2	170	1	0	0	0	0	0	0	0	1	16764	1	1	5		5	TUBGCP3	13	113181323	Silent	SNP	A	TCGA-HT-7477-01B-11D-A289-08		113181323	1988555	44	7551											
DLGAP5	9787	broad.mit.edu	37	chr14	55643912	55643912	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taaaatccttaggtgcaaagGaattcttcccttttattttt	11	18	5	7	0	1	0	0	0	1	0	3	1	3	1	2	2	1	1	2	2	6	8			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr14:55643912G>A	uc001xbs.3	-	7	1134	c.917C>T	c.(916-918)tCc>tTc	p.S306F	DLGAP5_uc001xbt.3_Missense_Mutation_p.S306F	NM_014750	NP_055565	Q15398	DLGP5_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 5 (DLGAP5), transcript variant 1, mRNA.	306					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						AGGTGCAAAGGAATTCTTCCC	0.383													19	12					0	0	1	0	0	A	55643912	G	A	55643912	3	1	170	1	0	0	0	0	1	0	0	0	4563	1174	41	3	1766	3	DLGAP5	14	55643912	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08		55643912	51705628	45	7552											
CIB1	10519	broad.mit.edu	37	chr15	90775542	90775542	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctggggaagcagctcaCaaaaccgcctgtgggctctg	8	7	13	13	1	2	0	1	0	1	0	3	1	3	1	3	3	3	4	3	3	3	0			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr15:90775542C>A	uc002bpb.4	-	2	266	c.104G>T	c.(103-105)tGt>tTt	p.C35F	GDPGP1_uc002bpc.3_5'Flank	NM_006384	NP_006375	Q99828	CIB1_HUMAN	Homo sapiens calcium and integrin binding 1 (calmyrin) (CIB1), mRNA.	35					apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			AAGCAGCTCACAAAACCGCCT	0.587													9	24					1.2476e-16	1.32968e-16	1	1	0	A	90775542	C	A	90775542	3	1	170	1	0	0	0	0	1	0	0	0	3420	478	17	5	491	5	CIB1	15	90775542	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08		90775542	11755850	46	7553											
TP53	7157	broad.mit.edu	37	chr17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctatctgagcagcgctcaTggtgggggcagcgcctcaca	7	7	14	13	3	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	1	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr17:7578394T>C	uc002gim.2	-	4	730	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_uc002gig.1_Missense_Mutation_p.H179R|TP53_uc002gih.3_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.2_Missense_Mutation_p.H140R	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(214)|p.H179Y(90)|p.H179L(78)|p.H179Q(19)|p.P177_C182delPHHERC(16)|p.H178fs*69(15)|p.H179N(14)|p.H179D(11)|p.H178Y(8)|p.0?(8)|p.C176_R181delCPHHER(6)|p.H179P(6)|p.H178fs*3(6)|p.H178P(6)|p.R175_E180delRCPHHE(6)|p.H178Q(5)|p.H178D(5)|p.H178_S183delHHERCS(4)|p.H47L(4)|p.H86L(4)|p.H179fs*68(3)|p.R174fs*24(3)|p.H178N(3)|p.P177_H179delPHH(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.H86R(2)|p.H178fs*6(2)|p.P177_E180delPHHE(2)|p.H47R(2)|p.R174fs*1(2)|p.H178H(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.H179fs*?(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.H179del(1)|p.H178L(1)|p.R175_H178>X(1)|p.P177_C182del(1)|p.R81fs*24(1)|p.H178del(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(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)		GCAGCGCTCATGGTGGGGGCA	0.642		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)			72	9					0	0	1	0	0	C	7578394	T	C	7578394	3	2	170	1	0	0	0	0	1	0	0	0	16378	1464	51	3	762	3	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-HT-7477-01B-11D-A289-08		7578394	73616816	47	7554											
MYO15A	51168	broad.mit.edu	37	chr17	18022907	18022907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccctacctggcgggcctcGgcccctacagcccggcctgg	5	5	12	19	3	0	0	0	0	0	0	1	0	0	0	7	5	4	0	7	5	3	2			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr17:18022907G>A	uc021trm.1	+	0	1012	c.793G>A	c.(793-795)Ggc>Agc	p.G265S	MYO15A_uc021trl.1_Missense_Mutation_p.G265S	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	265	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGCGGGCCTCGGCCCCTACAG	0.652													41	64					0	0	1	0	0	A	18022907	G	A	18022907	3	1	170	1	0	0	0	0	1	0	0	0	10063	1116	39	2	795	2	MYO15A	17	18022907	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	10444513	18022907	63172303	48	7555											
VEZF1	7716	broad.mit.edu	37	chr17	56060673	56060673	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaagcaatggtttctgatCagggggctccacggcagagc	9	8	15	9	1	2	2	1	1	1	1	3	3	3	3	1	5	2	4	1	5	2	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr17:56060673C>G	uc002ivf.1	-	1	258	c.115G>C	c.(115-117)Gat>Cat	p.D39H	VEZF1_uc010dcn.1_5'UTR	NM_007146	NP_009077	Q14119	VEZF1_HUMAN	Homo sapiens vascular endothelial zinc finger 1 (VEZF1), mRNA.	39					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GGTTTCTGATCAGGGGGCTCC	0.473													77	87					0	0	1	0	0	G	56060673	C	G	56060673	3	3	170	1	0	0	0	0	1	0	0	0	17152	826	29	5	1470	5	VEZF1	17	56060673	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08	38037766	56060673	25134537	49	7556											
DNAI2	64446	broad.mit.edu	37	chr17	72301394	72301394	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggaccgagcagggcatcGtcatctcctgcaaccgcaag	9	6	13	13	3	2	0	1	0	1	0	4	2	2	1	3	3	3	4	3	3	2	0			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr17:72301394G>A	uc002jkf.3	+	8	1134	c.1024G>A	c.(1024-1026)Gtc>Atc	p.V342I	DNAI2_uc002jkg.3_Missense_Mutation_p.V342I|DNAI2_uc010dfp.3_Non-coding_Transcript|BX648926_uc002jkh.1_3'UTR|DNAI2_uc002jki.3_Non-coding_Transcript	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.	342					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCAGGGCATCGTCATCTCCTG	0.577									Kartagener syndrome				10	102					0	0	1	0	0	A	72301394	G	A	72301394	3	1	170	1	0	0	0	0	1	0	0	0	4610	1145	40	1	1054	1	DNAI2	17	72301394	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	16240721	72301394	8893816	50	7557											
CD97	976	broad.mit.edu	37	chr19	14517251	14517251	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctactttcttgtggtgcgcGtgttccaaggccagggcctg	4	13	13	11	2	2	0	0	0	2	0	3	0	3	0	3	3	2	1	3	3	2	4			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr19:14517251G>A	uc002myl.3	+	14	2310	c.1930G>A	c.(1930-1932)Gtg>Atg	p.V644M	CD97_uc002mym.3_Missense_Mutation_p.V595M|CD97_uc002myn.3_Missense_Mutation_p.V551M	NM_078481	NP_510966	P48960	CD97_HUMAN	Homo sapiens CD97 molecule (CD97), transcript variant 1, mRNA.	644					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGTGGTGCGCGTGTTCCAAGG	0.652											OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	14					0	0	1	0	0	A	14517251	G	A	14517251	3	1	170	1	0	0	0	0	1	0	0	0	3049	1145	40	1	1988	1	CD97	19	14517251	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08		14517251	44611732	51	7558											
NUDT19	390916	broad.mit.edu	37	chr19	33183087	33183087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgcggccgaccgctcggCggactggctgggcctcttcg	3	7	17	14	6	1	0	0	0	1	0	3	3	1	2	3	6	1	2	3	6	0	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr19:33183087C>T	uc010edf.3	+	0	221	c.221C>T	c.(220-222)gCg>gTg	p.A74V		NM_001105570	NP_001099040	A8MXV4	NUD19_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 19 (NUDT19), nuclear gene encoding mitochondrial protein, mRNA.	74	Nudix hydrolase.					mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					GACCGCTCGGCGGACTGGCTG	0.751													9	30					0	0	1	0	0	T	33183087	C	T	33183087	3	4	170	1	0	0	0	0	1	0	0	0	10736	768	27	1	223	1	NUDT19	19	33183087	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08	18665836	33183087	25945896	52	7559											
LILRB1	10859	broad.mit.edu	37	chr19	55143156	55143157	+	Frame_Shift_Del	DEL	TG	TG	-																															ccatccatcacctgggaacaTgcagggcggtatcgctgtta																								rs12462774	by1000genomes	TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr19:55143156_55143157delTG	uc002qgj.3	+	4	616_617	c.276_277delTG	c.(274-279)catgcafs	p.H92fs	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Frame_Shift_Del_p.H92fs|LILRB1_uc002qgk.3_Frame_Shift_Del_p.H92fs|LILRB1_uc002qgm.3_Frame_Shift_Del_p.H92fs|LILRB1_uc010erq.3_Frame_Shift_Del_p.H92fs|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	92	Ig-like C2-type 1.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCTGGGAACATGCAGGGCGGTA	0.554										HNSCC(37;0.09)			12	193	---	---	---	---						-	55143157	TG	-	55143156	7	5	170	1	0	1	0	1	0	0	0	0	8790	1461	51	0	286	0	LILRB1	19	55143156	Frame_Shift_Del	DEL	TG	TCGA-HT-7477-01B-11D-A289-08	21960069	55143156	3985827	53	7560											
SPATA2	9825	broad.mit.edu	37	chr20	48523042	48523042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttctggagtgccactcgtGacatggaggccgtcaggtgc	7	9	14	11	2	2	1	1	1	1	0	3	3	2	3	2	4	2	0	2	4	0	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr20:48523042G>A	uc010gie.3	-	2	1027	c.677C>T	c.(676-678)tCa>tTa	p.S226L	SPATA2_uc002xuw.3_Missense_Mutation_p.S226L|SPATA2_uc010zyn.2_Missense_Mutation_p.S89L	NM_001135773	NP_006029	Q9UM82	SPAT2_HUMAN	Homo sapiens spermatogenesis associated 2 (SPATA2), transcript variant 2, mRNA.	226					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			TGCCACTCGTGACATGGAGGC	0.672													18	49					0	0	1	0	0	A	48523042	G	A	48523042	3	1	170	1	0	0	0	0	1	0	0	0	15004	1294	45	3	889	3	SPATA2	20	48523042	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08		48523042	14502478	54	7561											
SCUBE1	80274	broad.mit.edu	37	chr22	43606074	43606074	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcatgaccagaacatcGccgcactcatcctcgatggg	9	9	8	15	3	2	2	2	1	0	1	6	3	4	2	4	1	1	1	4	1	1	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr22:43606074G>A	uc003bdt.2	-	18	2683	c.2556C>T	c.(2554-2556)ggC>ggT	p.G852G		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	852	CUB.				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CCAGAACATCGCCGCACTCAT	0.632													45	14					0	0	1	0	0	A	43606074	G	A	43606074	2	1	170	1	0	0	0	0	0	0	0	1	13944	1074	38	1		1	SCUBE1	22	43606074	Silent	SNP	G	TCGA-HT-7477-01B-11D-A289-08		43606074	7698492	55	7562											
ATRX	546	broad.mit.edu	37	chrX	76940500	76940500	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtaatacttaaagcaattcTattaaaagaaaagaggaagg	20	10	8	3	0	1	2	0	0	1	2	1	3	1	3	0	2	2	2	0	2	11	6			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chrX:76940500T>G	uc004ecp.4	-	8	827	c.595_splice	c.e8-1	p.N199_splice	ATRX_uc004ecq.4_Splice_Site_p.N161_splice|ATRX_uc004eco.4_Splice_Site|ATRX_uc004ecr.2_Splice_Site_p.N160_splice|ATRX_uc010nlx.1_Splice_Site_p.N199_splice|ATRX_uc010nly.1_Splice_Site_p.N144_splice	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	199	ADD.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AAAGCAATTCTATTAAAAGAA	0.294			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						44	5					0	0	1	0	0	G	76940500	T	G	76940500	5	3	170	1	0	0	0	0	0	0	1	0	1208	1536	53	5	6997	5	ATRX	23	76940500	Splice_Site	SNP	T	TCGA-HT-7477-01B-11D-A289-08		76940500	78330060	56	7563											
ACTRT1	139741	broad.mit.edu	37	chrX	127185376	127185376	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttgagagtcctgggctgtgGatgcccagctggtcaggtgc	5	11	16	9	0	1	1	1	1	0	1	2	3	2	2	2	4	3	2	2	4	0	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chrX:127185376G>T	uc004eum.3	-	0	1007	c.810C>A	c.(808-810)atC>atA	p.I270I		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	270						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CTGGGCTGTGGATGCCCAGCT	0.512													49	27					1.51926e-22	1.6408e-22	1	1	0	T	127185376	G	T	127185376	2	4	170	1	0	0	0	0	0	0	0	1	218	1164	41	5		5	ACTRT1	23	127185376	Silent	SNP	G	TCGA-HT-7477-01B-11D-A289-08	50244876	127185376	28085184	57	7564											
TNFRSF14	8764	broad.mit.edu	37	chr1	2492072	2492072	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttctcaggcaccgagaGtcaggacaccctgtgtcaga	9	9	10	13	1	4	2	3	0	2	2	6	4	4	3	2	2	0	1	2	2	0	1			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr1:2492072G>T	uc001ajr.3	+	4	769	c.470G>T	c.(469-471)aGt>aTt	p.S157I	TNFRSF14_uc009vlf.1_Missense_Mutation_p.S157I|TNFRSF14_uc001ajt.1_Missense_Mutation_p.V327F	NM_003820	NP_003811	Q92956	TNR14_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 14 (TNFRSF14), mRNA.	157					T cell costimulation|immune response|interspecies interaction between organisms		tumor necrosis factor receptor activity			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		GGCACCGAGAGTCAGGACACC	0.632			"Mis, N, F"		follicular lymphoma								4	13					0.00909568	0.00945951	1	1	0	T	2492072	G	T	2492072	3	4	171	1	0	0	0	0	1	0	0	0	16286	1029	36	5	488	5	TNFRSF14	1	2492072	Missense_Mutation	SNP	G	TCGA-HT-7478-01A-11D-2024-08		2492072	246758549	1	7565											
MTOR	2475	broad.mit.edu	37	chr1	11184641	11184641	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacacgctcatcctggcgCagatcttcatggccttttag	8	12	8	13	2	4	1	3	0	1	1	5	1	5	1	2	2	0	2	2	2	1	3			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr1:11184641C>T	uc001asd.3	-	46	6697	c.6576G>A	c.(6574-6576)ctG>ctA	p.L2192L	MTOR_uc001asc.3_Silent_p.L397L	NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	2192	PI3K/PI4K.				T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient	Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CATCCTGGCGCAGATCTTCAT	0.507													13	50					0	0	1	0	0	T	11184641	C	T	11184641	2	4	171	1	0	0	0	0	0	0	0	1	9954	697	25	3		3	MTOR	1	11184641	Silent	SNP	C	TCGA-HT-7478-01A-11D-2024-08	8692569	11184641	238065980	2	7566											
SPATA6	54558	broad.mit.edu	37	chr1	48771507	48771507	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtctctacataaaagacttCttttcagttccagttcatca	12	15	4	10	0	5	1	3	0	2	1	7	1	6	1	1	0	1	2	1	0	3	7			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr1:48771507C>G	uc001crr.2	-	11	1434	c.1238G>C	c.(1237-1239)aGa>aCa	p.R413T	SPATA6_uc001crs.2_Missense_Mutation_p.R397T|SPATA6_uc010omv.2_Missense_Mutation_p.R399T	NM_019073	NP_061946	Q9NWH7	SPAT6_HUMAN	Homo sapiens spermatogenesis associated 6 (SPATA6), mRNA.	413					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TAAAAGACTTCTTTTCAGTTC	0.353													7	164					0	0	1	0	0	G	48771507	C	G	48771507	3	3	171	1	0	0	0	0	1	0	0	0	15012	913	32	5	236	5	SPATA6	1	48771507	Missense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08	37586866	48771507	200479114	3	7567											
PLA2G4A	5321	broad.mit.edu	37	chr1	186946833	186946833	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggagtgctatgtctttaaaCccaagaatcctgatatggag	13	11	10	7	0	1	2	0	1	1	1	2	4	2	4	2	2	2	1	2	2	6	4			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr1:186946833C>G	uc001gsc.3	+	15	2078	c.1873C>G	c.(1873-1875)Ccc>Gcc	p.P625A	PLA2G4A_uc010pos.2_Missense_Mutation_p.P565A	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	625	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	TGTCTTTAAACCCAAGAATCC	0.443													29	82					0	0	1	0	0	G	186946833	C	G	186946833	3	3	171	1	0	0	0	0	1	0	0	0	12001	507	18	5	1931	5	PLA2G4A	1	186946833	Missense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08	138175326	186946833	62303788	4	7568											
GREB1	9687	broad.mit.edu	37	chr2	11728938	11728938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagccccctcttgtacaCgtgctaccagaattcccagt	8	10	8	15	1	2	1	1	0	1	1	3	1	3	1	4	1	4	2	4	1	3	4	rs151098036	by1000genomes	TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr2:11728938C>T	uc002rbk.1	+	9	1526	c.1226C>T	c.(1225-1227)aCg>aTg	p.T409M	GREB1_uc002rbn.1_Missense_Mutation_p.T409M|GREB1_uc002rbo.1_Missense_Mutation_p.T43M	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	409						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTCTTGTACACGTGCTACCAG	0.592													6	86					0	0	1	0	0	T	11728938	C	T	11728938	3	4	171	1	0	0	0	0	1	0	0	0	6760	536	19	1	1335	1	GREB1	2	11728938	Missense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08		11728938	231470435	5	7569											
FSHR	2492	broad.mit.edu	37	chr2	49190307	49190307	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgcactgtgaggtagatGtggatatagcagccacagat	11	10	12	8	1	0	3	0	1	0	2	1	4	1	4	2	2	2	3	2	2	3	4			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr2:49190307G>T	uc002rww.3	-	9	1763	c.1653C>A	c.(1651-1653)caC>caA	p.H551Q	FSHR_uc010fbn.3_Missense_Mutation_p.H525Q|FSHR_uc002rwx.3_Missense_Mutation_p.H489Q	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	551					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	p.H551Y(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TGAGGTAGATGTGGATATAGC	0.527									Gonadal Dysgenesis, 46 XX				9	29					0.000442599	0.000479483	1	1	0	T	49190307	G	T	49190307	3	4	171	1	0	0	0	0	1	0	0	0	6073	1368	48	5	438	5	FSHR	2	49190307	Missense_Mutation	SNP	G	TCGA-HT-7478-01A-11D-2024-08	37461369	49190307	194009066	6	7570											
BAZ2B	29994	broad.mit.edu	37	chr2	160295595	160295595	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttcttcaatactttgatcTtcttcttcttcatcttcttc	5	23	1	12	0	9	1	2	1	7	0	10	1	9	1	0	0	1	0	0	0	2	10			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr2:160295595T>A	uc002uao.3	-	6	1230	c.825A>T	c.(823-825)gaA>gaT	p.E275D	BAZ2B_uc002uap.3_Missense_Mutation_p.E273D|BAZ2B_uc002uas.1_Missense_Mutation_p.E212D|BAZ2B_uc002uau.1_Missense_Mutation_p.E273D|BAZ2B_uc002uaq.1_Missense_Mutation_p.E203D|BAZ2B_uc002uat.4_Missense_Mutation_p.E212D|BAZ2B_uc010fop.1_Missense_Mutation_p.E273D	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	275	Poly-Glu.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TACTTTGAtcttcttcttctt	0.363													13	108					0	0	1	0	0	A	160295595	T	A	160295595	3	1	171	1	0	0	0	0	1	0	0	0	1332	1606	56	5	5805	5	BAZ2B	2	160295595	Missense_Mutation	SNP	T	TCGA-HT-7478-01A-11D-2024-08	111105288	160295595	82903778	7	7571											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								29	56					0	0	1	0	0	T	209113112	C	T	209113112	3	4	171	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08	48817517	209113112	34086261	8	7572											
CXCR2	3579	broad.mit.edu	37	chr2	219000407	219000407	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccgcaatcacatcgaccggGctctggatgccaccgagatt	9	7	11	14	4	2	1	1	0	1	1	3	4	2	2	4	2	1	2	4	2	1	1			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr2:219000407G>C	uc002vgz.2	+	3	1093	c.883G>C	c.(883-885)Gct>Cct	p.A295P	CXCR2_uc002vha.2_Missense_Mutation_p.A295P|CXCR2_uc002vhb.2_Missense_Mutation_p.A295P|CXCR2_uc021vwp.1_Missense_Mutation_p.A295P	NM_001168298	NP_001548	P25025	CXCR2_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA.	295					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CATCGACCGGGCTCTGGATGC	0.592													27	67					0	0	1	0	0	C	219000407	G	C	219000407	3	2	171	1	0	0	0	0	1	0	0	0	4091	1203	42	5	885	5	CXCR2	2	219000407	Missense_Mutation	SNP	G	TCGA-HT-7478-01A-11D-2024-08	9887295	219000407	24198966	9	7573											
UGT1A1	54658	broad.mit.edu	37	chr2	234602275	234602275	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgactttttcccaacgaGtggccaacttccttgttaat	10	14	6	11	1	0	1	0	1	0	0	2	2	2	1	3	1	2	1	3	1	3	5			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr2:234602275G>C	uc002vuv.4	+	0	764	c.625G>C	c.(625-627)Gtg>Ctg	p.V209L	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Missense_Mutation_p.V209L	NM_001072	NP_001063	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A6 (UGT1A6), transcript variant 1, mRNA.	210			R -> W (in CN2; has low residual bilirubin glucuronidation activity of about 2.9% of that of the wild-type protein).		bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.R209L(2)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TTCCCAACGAGTGGCCAACTT	0.448													63	127					0	0	1	0	0	C	234602275	G	C	234602275	3	2	171	1	0	0	0	0	1	0	0	0	16941	1029	36	5		5	UGT1A1	2	234602275	Missense_Mutation	SNP	G	TCGA-HT-7478-01A-11D-2024-08	15601868	234602275	8597098	10	7574											
CEP97	79598	broad.mit.edu	37	chr3	101447686	101447686	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttttcttgtgataggccatgGaacagatcaatagctgcaca	12	12	9	8	0	2	2	1	1	1	1	2	3	2	3	1	2	3	2	1	2	4	5			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr3:101447686G>C	uc003dvk.1	+	3	379	c.352G>C	c.(352-354)Gaa>Caa	p.E118Q	CEP97_uc010hpm.1_Intron|CEP97_uc011bhf.1_Missense_Mutation_p.E118Q|CEP97_uc003dvl.1_Intron	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	Homo sapiens centrosomal protein 97kDa (CEP97), mRNA.	118						centrosome|nucleus	protein binding	p.E118K(2)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						ATAGGCCATGGAACAGATCAA	0.353													34	59					0	0	1	0	0	C	101447686	G	C	101447686	3	2	171	1	0	0	0	0	1	0	0	0	3263	1175	41	5	366	5	CEP97	3	101447686	Missense_Mutation	SNP	G	TCGA-HT-7478-01A-11D-2024-08		101447686	96574744	11	7575											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	17	7	10	7	0	1	2	1	2	0	0	1	4	1	3	0	3	3	2	0	3	5	0	rs121913279		TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr3:178952085A>T	uc003fjk.3	+	20	3297	c.3140A>T	c.(3139-3141)cAt>cTt	p.H1047L		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(3170)|p.H1047L(409)|p.H1047Y(46)|p.A1046T(6)|p.H1047Q(3)|p.A1046E(2)|p.H1047P(2)|p.A1046V(2)|p.A1046A(1)|p.H1047T(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			12	79					0	0	1	0	0	T	178952085	A	T	178952085	3	4	171	1	0	0	0	0	1	0	0	0	11913	217	8	5	3218	5	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-HT-7478-01A-11D-2024-08	77504399	178952085	19070345	12	7576											
PDGFRA	5156	broad.mit.edu	37	chr4	55152105	55152105	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagagacatcatgcatgAttcgaactatgtgtcgaaag	13	9	11	8	2	1	2	1	1	0	1	3	5	1	2	1	1	2	1	1	1	3	2	rs121913268		TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr4:55152105A>G	uc003han.4	+	17	2868	c.2537A>G	c.(2536-2538)gAt>gGt	p.D846G	PDGFRA_uc003haa.3_Missense_Mutation_p.D606G	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	846	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.(814_854)?(57)|p.D842_H845del(44)|p.I843_D846del(37)|p.M844_S847del(11)|p.I843_S847>T(10)|p.D842_D846>E(5)|p.H845_N848>P(4)|p.D842_D846>H(4)|p.D842_D846del(2)|p.D842_S847>EA(2)|p.D846Y(2)|p.D842_D846>S(2)|p.D842_D846>G(2)|p.D842_D846>A(2)|p.D842_H845>V(2)|p.M844_S847>P(2)|p.I843_S847>L(1)|p.I843_S847>H(1)|p.I843_S847>I(1)|p.H845_N848del(1)|p.D846A(1)|p.H845Y(1)|p.D842_S847>RV(1)|p.D842_H845>A(1)|p.D842_H845>Y(1)|p.D842_D846>N(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	ATCATGCATGATTCGAACTAT	0.498			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			7	141					0	0	1	0	0	G	55152105	A	G	55152105	3	3	171	1	0	0	0	0	1	0	0	0	11661	333	12	3	2603	3	PDGFRA	4	55152105	Missense_Mutation	SNP	A	TCGA-HT-7478-01A-11D-2024-08		55152105	136002171	13	7577											
STC2	8614	broad.mit.edu	37	chr5	172750382	172750382	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttatgcagccgaacctgtGccgcagagcgtgggccttac	7	8	13	13	3	0	1	0	0	0	1	0	2	0	1	4	1	6	3	4	1	3	2			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr5:172750382G>T	uc003mco.1	-	2	1656	c.346C>A	c.(346-348)Cac>Aac	p.H116N	STC2_uc003mcn.1_Missense_Mutation_p.H31N	NM_003714	NP_003705	O76061	STC2_HUMAN	Homo sapiens stanniocalcin 2 (STC2), mRNA.	116					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCGAACCTGTGCCGCAGAGCG	0.592													4	28					0.014758	0.0150474	1	1	0	T	172750382	G	T	172750382	3	4	171	1	0	0	0	0	1	0	0	0	15275	1319	46	5	570	5	STC2	5	172750382	Missense_Mutation	SNP	G	TCGA-HT-7478-01A-11D-2024-08		172750382	8164878	14	7578											
PRDM13	59336	broad.mit.edu	37	chr6	100062262	100062262	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggcaagctgtactcgcGcaagtatgggctcaagatcc	9	9	12	11	2	1	1	1	0	0	1	3	1	2	1	1	2	2	6	1	2	5	2			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr6:100062262G>A	uc003pqg.1	+	3	2012	c.1751G>A	c.(1750-1752)cGc>cAc	p.R584H		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	Homo sapiens PR domain containing 13 (PRDM13), mRNA.	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S583*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		CTGTACTCGCGCAAGTATGGG	0.662													3	26					0	0	1	0	0	A	100062262	G	A	100062262	3	1	171	1	0	0	0	0	1	0	0	0	12454	1087	38	1	1765	1	PRDM13	6	100062262	Missense_Mutation	SNP	G	TCGA-HT-7478-01A-11D-2024-08		100062262	71052805	15	7579											
TRIM35	23087	broad.mit.edu	37	chr8	27145295	27145295	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatggccaggaccaggggCgacgtggctgggtccgaggt	6	5	21	9	3	0	0	0	0	0	0	1	4	1	2	3	8	0	1	3	8	0	0			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr8:27145295C>T	uc003xfl.1	-	5	1336	c.1254G>A	c.(1252-1254)tcG>tcA	p.S418S	TRIM35_uc010lup.1_3'UTR	NM_171982	NP_741983	Q9UPQ4	TRI35_HUMAN	Homo sapiens tripartite motif containing 35 (TRIM35), transcript variant 2, mRNA.	418	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GGACCAGGGGCGACGTGGCTG	0.667													4	10					0	0	1	0	0	T	27145295	C	T	27145295	2	4	171	1	0	0	0	0	0	0	0	1	16506	755	27	1		1	TRIM35	8	27145295	Silent	SNP	C	TCGA-HT-7478-01A-11D-2024-08		27145295	119218727	16	7580											
MYO3A	53904	broad.mit.edu	37	chr10	26241102	26241102	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctgatccttctgatacatgGgaaatcactgagacaattgg	12	11	9	9	0	2	3	1	3	1	1	3	5	3	4	2	2	1	0	2	2	3	3			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr10:26241102G>C	uc001isn.2	+	2	423	c.63G>C	c.(61-63)tgG>tgC	p.W21C	MYO3A_uc009xko.1_Missense_Mutation_p.W21C|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.W21C|MYO3A_uc001ism.2_Missense_Mutation_p.W21C	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	21	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTGATACATGGGAAATCACTG	0.328													16	50					0	0	1	0	0	C	26241102	G	C	26241102	3	2	171	1	0	0	0	0	1	0	0	0	10076	1241	43	5	65	5	MYO3A	10	26241102	Missense_Mutation	SNP	G	TCGA-HT-7478-01A-11D-2024-08		26241102	109293645	17	7581											
OR5T3	390154	broad.mit.edu	37	chr11	56020656	56020656	+	Frame_Shift_Del	DEL	A	A	-																															agtttgaggaacaaagaagtAaaaaaggcagtgaagaaaat																										TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr11:56020656delA	uc010rjd.2	+	0	981	c.981delA	c.(979-981)gtafs	p.V327fs		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	327					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ACAAAGAAGTAAAAAAGGCAG	0.323													18	59	---	---	---	---						-	56020656	A	-	56020656	7	5	171	1	0	1	0	1	0	0	0	0	11183	349	13	0	983	0	OR5T3	11	56020656	Frame_Shift_Del	DEL	A	TCGA-HT-7478-01A-11D-2024-08		56020656	78985860	18	7582											
TYR	7299	broad.mit.edu	37	chr11	88911234	88911234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaggaatgctgtccacCgtggagcggggacaggagtc	10	5	18	8	2	0	1	0	0	0	1	2	6	1	5	2	6	2	1	2	6	2	0			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr11:88911234C>T	uc001pcs.3	+	0	195	c.113C>T	c.(112-114)cCg>cTg	p.P38L		NM_000372	NP_000363	P14679	TYRO_HUMAN	Homo sapiens tyrosinase (oculocutaneous albinism IA) (TYR), mRNA.	38					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity	p.P38P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TGCTGTCCACCGTGGAGCGGG	0.547													21	41					0	0	1	0	0	T	88911234	C	T	88911234	3	4	171	1	0	0	0	0	1	0	0	0	16810	652	23	2	115	2	TYR	11	88911234	Missense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08	32890578	88911234	46095282	19	7583											
TEAD4	7004	broad.mit.edu	37	chr12	3129912	3129912	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgttggagttctctgccttCctggagcagcagcaggaccc	7	10	12	12	0	1	0	0	0	1	0	3	3	2	3	3	3	4	5	3	3	0	3			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr12:3129912C>T	uc010sej.2	+	8	988	c.696C>T	c.(694-696)ttC>ttT	p.F232F	TEAD4_uc010sek.2_Silent_p.F189F|TEAD4_uc001qln.3_Silent_p.F103F	NM_201443	NP_958851	Q15561	TEAD4_HUMAN	Homo sapiens TEA domain family member 4 (TEAD4), transcript variant 3, mRNA.	232					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			TCTCTGCCTTCCTGGAGCAGC	0.682													21	51					0	0	1	0	0	T	3129912	C	T	3129912	2	4	171	1	0	0	0	0	0	0	0	1	15738	854	30	3		3	TEAD4	12	3129912	Silent	SNP	C	TCGA-HT-7478-01A-11D-2024-08		3129912	130721983	20	7584											
RAB15	376267	broad.mit.edu	37	chr14	65417123	65417123	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggatcttctggacgccttCtggtgcgtactagggacaaa	10	10	12	9	2	3	0	0	0	3	0	3	3	3	3	1	4	2	1	1	4	4	4			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr14:65417123C>G	uc021rut.1	-	4	415	c.334G>C	c.(334-336)Gaa>Caa	p.E112Q	CHURC1-FNTB_uc010tsl.2_Intron|CHURC1-FNTB_uc010tsm.2_Intron|RAB15_uc001xhz.2_Missense_Mutation_p.Q155H|RAB15_uc021rur.1_Non-coding_Transcript|RAB15_uc021rus.1_Non-coding_Transcript			P59190	RAB15_HUMAN	Homo sapiens RAB15, member RAS onocogene family (RAB15), mRNA.	112					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		TGGACGCCTTCTGGTGCGTAC	0.567													19	141					0	0	1	0	0	G	65417123	C	G	65417123	3	3	171	1	0	0	0	0	1	0	0	0	12901	912	32	5	173	5	RAB15	14	65417123	Missense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08		65417123	41932417	21	7585											
UNC13C	440279	broad.mit.edu	37	chr15	54306802	54306802	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaagatttttcagaaaatCagtttttcactagaactaat	16	14	5	6	0	3	4	3	0	0	4	3	4	3	4	0	0	1	1	0	0	6	6			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr15:54306802C>T	uc021smr.1	+	0	1702	c.1702C>T	c.(1702-1704)Cag>Tag	p.Q568*	UNC13C_uc021sms.1_Nonsense_Mutation_p.Q568*	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	568					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTCAGAAAATCAGTTTTTCAC	0.428													12	35					0	0	1	0	0	T	54306802	C	T	54306802	4	4	171	1	0	0	0	0	0	1	0	0	16983	827	29	3	1704	3	UNC13C	15	54306802	Nonsense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08		54306802	48224590	22	7586											
GNAO1	2775	broad.mit.edu	37	chr16	56388962	56388962	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccggggctgcggcttgtaCtgacctcttgtcctgtatag	4	13	12	12	2	1	1	0	1	1	0	3	1	3	1	3	3	2	4	3	3	3	5			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr16:56388962C>G	uc002eiu.4	+	7	1959	c.1062C>G	c.(1060-1062)taC>taG	p.Y354*		NM_020988	NP_066268	P09471	GNAO_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O (GNAO1), transcript variant 1, mRNA.	354					G-protein signaling, coupled to cAMP nucleotide second messenger|dopamine receptor signaling pathway|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				GCGGCTTGTACTGACCTCTTG	0.527													18	49					0	0	1	0	0	G	56388962	C	G	56388962	4	3	171	1	0	0	0	0	0	1	0	0	6508	576	20	5	1442	5	GNAO1	16	56388962	Nonsense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08		56388962	33965791	23	7587											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr17:7577120C>T	uc002gim.2	-	7	1012	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			18	13					0	0	1	0	0	T	7577120	C	T	7577120	3	4	171	1	0	0	0	0	1	0	0	0	16378	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08		7577120	73618090	24	7588											
MEP1B	4225	broad.mit.edu	37	chr18	29787227	29787227	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctttaggcagagagcacaAttttaacacctatagtgacg	13	11	8	9	1	0	2	0	1	0	1	1	3	1	2	2	1	2	2	2	1	5	6			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr18:29787227A>G	uc002kxj.4	+	7	607	c.560A>G	c.(559-561)aAt>aGt	p.N187S		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	Homo sapiens meprin A, beta (MEP1B), mRNA.	187	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGAGAGCACAATTTTAACACC	0.333													4	18					0	0	1	0	0	G	29787227	A	G	29787227	3	3	171	1	0	0	0	0	1	0	0	0	9476	101	4	3	590	3	MEP1B	18	29787227	Missense_Mutation	SNP	A	TCGA-HT-7478-01A-11D-2024-08		29787227	48290021	25	7589											
FSD1	79187	broad.mit.edu	37	chr19	4318904	4318904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaggatgccctcaggtcGtgggggacgggaccgcttca	8	6	16	11	3	2	1	2	0	0	1	3	4	2	4	2	5	1	1	2	5	1	1			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr19:4318904G>A	uc002lzy.2	+	9	1148	c.995G>A	c.(994-996)cGt>cAt	p.R332H	FSD1_uc002maa.2_Missense_Mutation_p.R145H	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 1 (FSD1), mRNA.	332	B30.2/SPRY.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTCAGGTCGTGGGGGACGG	0.597													20	32					0	0	1	0	0	A	4318904	G	A	4318904	3	1	171	1	0	0	0	0	1	0	0	0	6070	1145	40	1	1033	1	FSD1	19	4318904	Missense_Mutation	SNP	G	TCGA-HT-7478-01A-11D-2024-08		4318904	54810079	26	7590											
C19orf66	55337	broad.mit.edu	37	chr19	10202008	10202008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggctgagttccactgccCgaagtgtcggcacaacttcc	7	9	10	15	2	0	1	0	1	0	0	3	2	2	1	4	2	2	3	4	2	2	2			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr19:10202008C>T	uc002mmu.4	+	5	765	c.467C>T	c.(466-468)cCg>cTg	p.P156L	C19orf66_uc002mmv.4_Missense_Mutation_p.P156L|C19orf66_uc002mmw.4_Missense_Mutation_p.P105L	NM_018381	NP_060851	Q9NUL5	CS066_HUMAN	Homo sapiens chromosome 19 open reading frame 66 (C19orf66), mRNA.	156										large_intestine(3)|skin(1)	4						TTCCACTGCCCGAAGTGTCGG	0.692													9	21					0	0	1	0	0	T	10202008	C	T	10202008	3	4	171	1	0	0	0	0	1	0	0	0	1946	652	23	2	489	2	C19orf66	19	10202008	Missense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08	5883104	10202008	48926975	27	7591											
NLRP11	204801	broad.mit.edu	37	chr19	56321528	56321528	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctctctctcccatcaggaAcacattgagattgtttgctg	8	14	8	11	0	3	1	1	1	2	1	5	3	3	2	1	1	3	3	1	1	1	3			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr19:56321528A>G	uc010ygf.2	-	4	1159	c.448T>C	c.(448-450)Ttc>Ctc	p.F150L	NLRP11_uc002qlz.3_Missense_Mutation_p.F51L|NLRP11_uc002qmb.3_Missense_Mutation_p.F51L|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	150	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CCCATCAGGAACACATTGAGA	0.388													12	32					0	0	1	0	0	G	56321528	A	G	56321528	3	3	171	1	0	0	0	0	1	0	0	0	10473	43	2	3	2685	3	NLRP11	19	56321528	Missense_Mutation	SNP	A	TCGA-HT-7478-01A-11D-2024-08	46119520	56321528	2807455	28	7592											
ZSCAN5A	79149	broad.mit.edu	37	chr19	56736304	56736304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagaaatctcagggtccaCgtcgtgatttccaagttgag	10	11	12	8	2	1	3	1	3	1	1	5	4	3	3	2	1	0	1	2	1	2	2	rs145104621	byFrequency	TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr19:56736304C>T	uc002qmq.3	-	1	278	c.112G>A	c.(112-114)Gtg>Atg	p.V38M	ZSCAN5A_uc010ygi.2_Intron|ZSCAN5A_uc002qmr.3_Missense_Mutation_p.V38M|ZSCAN5A_uc002qms.1_Missense_Mutation_p.V38M	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA.	38					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCAGGGTCCACGTCGTGATTT	0.532													14	80					0	0	1	0	0	T	56736304	C	T	56736304	3	4	171	1	0	0	0	0	1	0	0	0	18235	536	19	1	1394	1	ZSCAN5A	19	56736304	Missense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08	414776	56736304	2392679	29	7593											
RLIM	51132	broad.mit.edu	37	chrX	73811938	73811938	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcattatctgccttaacatGgtctgaattgcaacagatgt	11	14	8	8	0	3	2	1	1	2	1	3	2	3	2	1	1	4	1	1	1	4	3	rs61754468	by1000genomes	TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chrX:73811938G>C	uc004ebu.3	-	4	1502	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_uc004ebw.3_Silent_p.T404T	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	Homo sapiens ring finger protein, LIM domain interacting (RLIM), transcript variant 2, mRNA.	404					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	p.T404T(12)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413													6	64					0	0	1	0	0	C	73811938	G	C	73811938	2	2	171	1	0	0	0	0	0	0	0	1	13390	1335	47	5		5	RLIM	23	73811938	Silent	SNP	G	TCGA-HT-7478-01A-11D-2024-08		73811938	81458622	30	7594											
ATRX	546	broad.mit.edu	37	chrX	76813082	76813082	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagacagtgactgcttagttActtgccgatcataaatctta	13	13	7	8	1	2	2	1	1	1	1	2	3	2	2	1	0	3	2	1	0	6	5			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chrX:76813082A>G	uc004ecp.4	-	29	6771	c.6539T>C	c.(6538-6540)gTa>gCa	p.V2180A	ATRX_uc004ecq.4_Missense_Mutation_p.V2142A|ATRX_uc004eco.4_Missense_Mutation_p.V1965A	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2180	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTGCTTAGTTACTTGCCGATC	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						37	23					0	0	1	0	0	G	76813082	A	G	76813082	3	3	171	1	0	0	0	0	1	0	0	0	1208	391	14	3	963	3	ATRX	23	76813082	Missense_Mutation	SNP	A	TCGA-HT-7478-01A-11D-2024-08	3001144	76813082	78457478	31	7595											
PLCH2	9651	broad.mit.edu	37	chr1	2415924	2415924	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaccaagggacgctgggttTtgaagagttctgtgccttct	7	12	12	10	1	2	2	0	1	2	1	2	3	2	3	3	2	1	3	3	2	2	4			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr1:2415924T>G	uc001aji.1	+	4	954	c.680T>G	c.(679-681)tTt>tGt	p.F227C	PLCH2_uc010nyz.2_Missense_Mutation_p.F16C|PLCH2_uc009vle.1_Missense_Mutation_p.F16C|PLCH2_uc001ajj.1_Missense_Mutation_p.F16C|PLCH2_uc001ajk.1_Missense_Mutation_p.F16C	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	228	EF-hand 2.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		ACGCTGGGTTTTGAAGAGTTC	0.602													8	26					0	0	1	0	0	G	2415924	T	G	2415924	3	3	172	1	0	0	0	0	1	0	0	0	12038	1841	64	5	701	5	PLCH2	1	2415924	Missense_Mutation	SNP	T	TCGA-HT-7479-01A-11D-2024-08		2415924	246834697	1	7596											
ZNF642	339559	broad.mit.edu	37	chr1	40961691	40961691	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcacttagtcgacatcAtgaaatacacaggaggaacg	14	9	8	10	2	3	1	2	1	1	0	4	4	3	3	0	2	2	0	0	2	4	3			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr1:40961691A>G	uc010ojk.2	+	5	1838	c.1544A>G	c.(1543-1545)cAt>cGt	p.H515R	ZNF642_uc001cfo.3_Missense_Mutation_p.H514R|ZNF642_uc009vwb.3_Missense_Mutation_p.H514R	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	Homo sapiens zinc finger protein 642 (ZNF642), mRNA.	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)			AGTCGACATCATGAAATACAC	0.368													24	78					0	0	1	0	0	G	40961691	A	G	40961691	3	3	172	1	0	0	0	0	1	0	0	0	18055	217	8	3	1559	3	ZNF642	1	40961691	Missense_Mutation	SNP	A	TCGA-HT-7479-01A-11D-2024-08	38545767	40961691	208288930	2	7597											
OR6K2	81448	broad.mit.edu	37	chr1	158670418	158670418	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagataaactcctgaaTggtggttcgattggggctct	10	11	14	6	1	1	3	0	1	1	2	3	5	2	3	1	5	1	2	1	5	4	3			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr1:158670418T>C	uc001fsu.1	-	0	25	c.25A>G	c.(25-27)Att>Gtt	p.I9V		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AACTCCTGAATGGTGGTTCGA	0.433													15	64					0	0	1	0	0	C	158670418	T	C	158670418	3	2	172	1	0	0	0	0	1	0	0	0	11202	1464	51	3	953	3	OR6K2	1	158670418	Missense_Mutation	SNP	T	TCGA-HT-7479-01A-11D-2024-08	117708727	158670418	90580203	3	7598											
MYT1L	23040	broad.mit.edu	37	chr2	1906994	1906994	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttggccaggttggaacgCggcgtagttgtggggacatt	6	11	16	8	3	0	0	0	0	0	0	1	2	1	2	2	6	1	3	2	6	2	5			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr2:1906994C>T	uc002qxe.3	-	13	2717	c.1890G>A	c.(1888-1890)ccG>ccA	p.P630P	MYT1L_uc002qxd.3_Silent_p.P628P|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	630					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGTTGGAACGCGGCGTAGTTG	0.468													12	30					0	0	1	0	0	T	1906994	C	T	1906994	2	4	172	1	0	0	0	0	0	0	0	1	10107	755	27	1		1	MYT1L	2	1906994	Silent	SNP	C	TCGA-HT-7479-01A-11D-2024-08		1906994	241292379	4	7599											
MOGS	7841	broad.mit.edu	37	chr2	74688527	74688527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtagcctggtactggcGccatacattgcctaccacgt	7	10	10	14	2	0	0	0	0	0	0	0	0	0	0	5	2	5	2	5	2	4	5			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr2:74688527G>A	uc010ffj.3	-	3	2552	c.2389C>T	c.(2389-2391)Cgc>Tgc	p.R797C	MOGS_uc010ffh.3_Missense_Mutation_p.R522C|MOGS_uc010yrt.2_Missense_Mutation_p.R678C|MOGS_uc010ffi.3_Missense_Mutation_p.R691C	NM_006302	NP_001139630	Q13724	MOGS_HUMAN	Homo sapiens mannosyl-oligosaccharide glucosidase (MOGS), transcript variant 1, mRNA.	797					oligosaccharide metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						TGGTACTGGCGCCATACATTG	0.622													26	75					0	0	1	0	0	A	74688527	G	A	74688527	3	1	172	1	0	0	0	0	1	0	0	0	9697	1087	38	1	128	1	MOGS	2	74688527	Missense_Mutation	SNP	G	TCGA-HT-7479-01A-11D-2024-08	72781533	74688527	168510846	5	7600											
FAM123C	205147	broad.mit.edu	37	chr2	131521009	131521009	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagggccggccctggggaCgccactgtccatatgcagct	6	7	14	14	2	1	0	1	0	0	0	2	1	2	1	4	4	2	2	4	4	1	1			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr2:131521009C>T	uc021voy.1	+	0	1364	c.1364C>T	c.(1363-1365)aCg>aTg	p.T455M	FAM123C_uc002trw.2_Missense_Mutation_p.T455M|FAM123C_uc010fmv.2_Missense_Mutation_p.T455M|FAM123C_uc010fms.1_Missense_Mutation_p.T455M|FAM123C_uc010fmt.1_Missense_Mutation_p.T455M|FAM123C_uc010fmu.1_Missense_Mutation_p.T455M	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	455										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GCCCTGGGGACGCCACTGTCC	0.652													21	46					0	0	1	0	0	T	131521009	C	T	131521009	3	4	172	1	0	0	0	0	1	0	0	0	5424	536	19	1	1366	1	FAM123C	2	131521009	Missense_Mutation	SNP	C	TCGA-HT-7479-01A-11D-2024-08	56832482	131521009	111678364	6	7601											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr2:209113113G>A	uc002vcs.3	-	3	640	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_uc002vct.3_Missense_Mutation_p.R132C|IDH1_uc002vcu.3_Missense_Mutation_p.R132C	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								20	54					0	0	1	0	0	A	209113113	G	A	209113113	3	1	172	1	0	0	0	0	1	0	0	0	7494	1058	37	2	878	2	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-7479-01A-11D-2024-08	77592104	209113113	34086260	7	7602											
CASR	846	broad.mit.edu	37	chr3	122003874	122003874	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggggaaacggacttagatCtgaccgtccaggaaacaggt	12	6	14	9	3	1	2	0	1	1	1	2	5	2	5	2	5	2	0	2	5	3	1			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr3:122003874C>A	uc003eew.4	+	6	3541	c.3103C>A	c.(3103-3105)Ctg>Atg	p.L1035M	CASR_uc003eev.4_Missense_Mutation_p.L1025M	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	1025					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GGACTTAGATCTGACCGTCCA	0.592													22	57					1.2644e-06	1.42831e-06	1	1	0	A	122003874	C	A	122003874	3	1	172	1	0	0	0	0	1	0	0	0	2682	912	32	5	3125	5	CASR	3	122003874	Missense_Mutation	SNP	C	TCGA-HT-7479-01A-11D-2024-08		122003874	76018556	8	7603											
FNDC3B	64778	broad.mit.edu	37	chr3	172048389	172048389	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atatccctcagatgccttctGcaccaaggctggttcgagct	8	11	9	13	1	2	1	1	0	1	1	4	2	3	1	3	2	3	4	3	2	2	3			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr3:172048389G>A	uc003fhy.3	+	12	1610	c.1438G>A	c.(1438-1440)Gca>Aca	p.A480T	FNDC3B_uc003fhz.4_Missense_Mutation_p.A480T|FNDC3B_uc003fia.3_Missense_Mutation_p.A411T	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.	480	Fibronectin type-III 3.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GATGCCTTCTGCACCAAGGCT	0.493													5	63					0	0	1	0	0	A	172048389	G	A	172048389	3	1	172	1	0	0	0	0	1	0	0	0	5970	1319	46	3	1484	3	FNDC3B	3	172048389	Missense_Mutation	SNP	G	TCGA-HT-7479-01A-11D-2024-08	50044515	172048389	25974041	9	7604											
FRAS1	80144	broad.mit.edu	37	chr4	79428637	79428637	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaccgggaatggcatgaaTctttctcactagtccttggc	10	11	10	10	1	2	2	1	1	2	1	4	3	3	3	2	3	0	1	2	3	4	3			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr4:79428637T>C	uc003hlb.2	+	61	9819	c.9379T>C	c.(9379-9381)Tct>Cct	p.S3127P	FRAS1_uc003hlc.1_Missense_Mutation_p.S129P	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3122	Calx-beta 5.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATGGCATGAATCTTTCTCACT	0.488													4	33					0	0	1	0	0	C	79428637	T	C	79428637	3	2	172	1	0	0	0	0	1	0	0	0	6042	1435	50	3	9700	3	FRAS1	4	79428637	Missense_Mutation	SNP	T	TCGA-HT-7479-01A-11D-2024-08		79428637	111725639	10	7605											
PCDHGC5	56097	broad.mit.edu	37	chr5	140750527	140750527	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaggagaacctggatggcaGtaggtacccagagctagtac	13	6	14	8	0	0	2	0	0	0	2	0	5	0	3	2	4	4	5	2	4	6	4			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr5:140750527G>T	uc003ljw.2	+	0	566	c.566G>T	c.(565-567)aGt>aTt	p.S189I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc011dat.2_Missense_Mutation_p.S189I	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	189	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGATGGCAGTAGGTACCCA	0.557													34	127					1.74807e-11	2.01193e-11	1	1	0	T	140750527	G	T	140750527	3	4	172	1	0	0	0	0	1	0	0	0	11571	1029	36	5		5	PCDHGC5	5	140750527	Missense_Mutation	SNP	G	TCGA-HT-7479-01A-11D-2024-08		140750527	40164733	11	7606											
ZNF300	91975	broad.mit.edu	37	chr5	150275093	150275093	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtctttccccagtatgaaTcctctgatgtaaaacaaggt	11	12	9	9	0	2	2	0	2	2	0	4	2	4	2	3	2	1	2	3	2	5	3			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr5:150275093T>A	uc021yfx.1	-	6	2184	c.1756A>T	c.(1756-1758)Att>Ttt	p.I586F	ZNF300_uc021yfy.1_Missense_Mutation_p.I570F|ZNF300_uc021yfz.1_Missense_Mutation_p.I534F	NM_001172831	NP_001166303	Q96RE9	ZN300_HUMAN	Homo sapiens zinc finger protein 300 (ZNF300), transcript variant 1, mRNA.	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGTATGAATCCTCTGATGT	0.438													20	60					0	0	1	0	0	A	150275093	T	A	150275093	3	1	172	1	0	0	0	0	1	0	0	0	17828	1435	50	5	110	5	ZNF300	5	150275093	Missense_Mutation	SNP	T	TCGA-HT-7479-01A-11D-2024-08	9524566	150275093	30640167	12	7607											
RREB1	6239	broad.mit.edu	37	chr6	7229937	7229937	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacgcccagcaggcttccccGggctgtatcagccccagcct	7	6	10	18	2	1	0	1	0	0	0	2	0	2	0	6	2	4	4	6	2	2	2			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr6:7229937G>T	uc003mxb.3	+	9	2097	c.1605G>T	c.(1603-1605)ccG>ccT	p.P535P	RREB1_uc021yky.1_Silent_p.P535P|RREB1_uc003mxc.3_Silent_p.P535P|RREB1_uc010jnx.3_Silent_p.P535P|RREB1_uc021ykz.1_Silent_p.P535P|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	535	Pro-rich.				Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGGCTTCCCCGGGCTGTATCA	0.682													31	103					5.60225e-13	6.57187e-13	1	1	0	T	7229937	G	T	7229937	2	4	172	1	0	0	0	0	0	0	0	1	13679	1103	39	5		5	RREB1	6	7229937	Silent	SNP	G	TCGA-HT-7479-01A-11D-2024-08		7229937	163885130	13	7608											
TIGD5	84948	broad.mit.edu	37	chr8	144681130	144681130	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaagctgcctgcagcagaagGccgtgctgctggtggcccac	7	6	15	13	1	0	1	0	0	0	1	0	2	0	1	3	3	6	5	3	3	2	0			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr8:144681130G>T	uc003yyx.2	+	0	1057	c.1057G>T	c.(1057-1059)Gcc>Tcc	p.A353S	EEF1D_uc011lki.2_5'Flank|EEF1D_uc003yyv.3_5'Flank|EEF1D_uc003yyu.3_5'Flank|EEF1D_uc011lkk.2_5'Flank|EEF1D_uc003yyt.3_5'Flank|EEF1D_uc003yyr.3_5'Flank|EEF1D_uc003yys.3_5'Flank|EEF1D_uc011lkl.2_5'Flank	NM_032862	NP_116251	E7EWS2	E7EWS2_HUMAN	Homo sapiens tigger transposable element derived 5 (TIGD5), mRNA.	353					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GCAGCAGAAGGCCGTGCTGCT	0.701													6	13					1	1	1	1	0	T	144681130	G	T	144681130	3	4	172	1	0	0	0	0	1	0	0	0	15896	1203	42	5	1059	5	TIGD5	8	144681130	Missense_Mutation	SNP	G	TCGA-HT-7479-01A-11D-2024-08		144681130	1682892	14	7609											
CBWD5	220869	broad.mit.edu	37	chr9	70182125	70182125	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgttgtgatttgtctttgAttgacaccaatccctgctca	7	17	7	10	0	2	3	1	3	1	0	3	3	3	3	2	0	1	2	2	0	1	5			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr9:70182125A>G	uc004afw.3	-	2		c.1987T>C						Q5RIA9	CBWD5_HUMAN	Homo sapiens COBW domain containing 5, mRNA (cDNA clone IMAGE:5287337), complete cds.								ATP binding								all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		TTTGTCTTTGATTGACACCAA	0.408													7	69					0	0	1	0	0	G	70182125	A	G	70182125	1	3	172	0	1	0	0	0	0	0	0	0	2715	348	12	3		3	CBWD5	9	70182125	RNA	SNP	A	TCGA-HT-7479-01A-11D-2024-08		70182125	71031306	15	7610											
TUBB8	347688	broad.mit.edu	37	chr10	93136	93136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcatccatgccctcgcccGtgtaccagtggaggaaggcc	7	8	11	15	2	1	0	1	0	1	0	4	2	2	2	5	3	2	1	5	3	2	1			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr10:93136G>A	uc001ifi.2	-	3	1196	c.1196C>T	c.(1195-1197)aCg>aTg	p.T399M		NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN	Homo sapiens tubulin, beta 8 class VIII (TUBB8), transcript variant 1, mRNA.	399					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GCCCTCGCCCGTGTACCAGTG	0.532													13	94					0	0	1	0	0	A	93136	G	A	93136	3	1	172	1	0	0	0	0	1	0	0	0	16758	1145	40	1	142	1	TUBB8	10	93136	Missense_Mutation	SNP	G	TCGA-HT-7479-01A-11D-2024-08		93136	135441611	16	7611											
SNRPN	6638	broad.mit.edu	37	chr15	25438440	25438440	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccgggtcctgctggatgcAtgcgccgggaaggacgtgcc	6	7	16	12	4	0	0	0	0	0	0	2	3	2	3	4	4	4	2	4	4	1	0			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr15:25438440A>G	uc001yzf.1	+	2		c.318A>G			SNRPN_uc001yzh.2_5'Flank|SNORD115-14_uc001yzj.1_5'Flank			P63162	RSMN_HUMAN	Homo sapiens clone Rt-11 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.						RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TGCTGGATGCATGCGCCGGGA	0.537									Prader-Willi syndrome				50	178					0	0	1	0	0	G	25438440	A	G	25438440	1	3	172	0	1	0	0	0	0	0	0	0	14870	232	8	3		3	SNRPN	15	25438440	RNA	SNP	A	TCGA-HT-7479-01A-11D-2024-08		25438440	77092952	17	7612											
OCA2	4948	broad.mit.edu	37	chr15	28171297	28171297	+	Frame_Shift_Del	DEL	A	A	-																															atcagaacaaagagcgctgcAaaaaacagaagggttgccca																										TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr15:28171297delA	uc001zbh.4	-	18	2165	c.2055delT	c.(2053-2055)tttfs	p.F685fs	OCA2_uc010ayv.3_Frame_Shift_Del_p.F661fs	NM_000275	NP_000266	Q04671	P_HUMAN	Homo sapiens oculocutaneous albinism II (OCA2), mRNA.	685					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	L-tyrosine transmembrane transporter activity|arsenite transmembrane transporter activity|citrate transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGAGCGCTGCAAAAAACAGAA	0.363									Oculocutaneous Albinism				19	64	---	---	---	---						-	28171297	A	-	28171297	7	5	172	1	0	1	0	1	0	0	0	0	10815	127	5	0	485	0	OCA2	15	28171297	Frame_Shift_Del	DEL	A	TCGA-HT-7479-01A-11D-2024-08	2732857	28171297	74360095	18	7613											
TP53	7157	broad.mit.edu	37	chr17	7578413	7578413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgggggcagcgcctcaCaacctccgtcatgtgctgtg	6	9	14	12	2	2	0	2	0	0	0	3	0	3	0	3	3	3	2	3	3	1	0			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr17:7578413C>T	uc002gim.2	-	4	711	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	TP53_uc002gig.1_Missense_Mutation_p.V173M|TP53_uc002gih.3_Missense_Mutation_p.V173M|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.V41M|TP53_uc010cnf.1_Missense_Mutation_p.V41M|TP53_uc002gii.1_Missense_Mutation_p.V41M|TP53_uc010cni.1_Missense_Mutation_p.V173M|TP53_uc010cnh.1_Missense_Mutation_p.V173M|TP53_uc002gij.2_Missense_Mutation_p.V173M|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.V80M|TP53_uc002gio.2_Missense_Mutation_p.V41M|TP53_uc010vug.2_Missense_Mutation_p.V134M	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	173	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V173L(125)|p.V173M(88)|p.V172F(13)|p.V173A(12)|p.V173V(8)|p.V173fs*1(8)|p.V172D(8)|p.0?(8)|p.V172I(7)|p.V173G(6)|p.V80L(6)|p.V41L(6)|p.V172A(4)|p.V173fs*59(4)|p.V172fs*2(4)|p.V172V(4)|p.V172G(4)|p.V80M(3)|p.V41M(3)|p.V157_C176del20(2)|p.V172_R174delVVR(2)|p.V173fs*69(2)|p.P151_V173del23(2)|p.V173fs*23(2)|p.V172_E180delVVRRCPHHE(2)|p.V173W(2)|p.V173fs*8(2)|p.E171_H179delEVVRRCPHH(2)|p.K164_P219del(1)|p.E171fs*61(1)|p.V173E(1)|p.E171fs*1(1)|p.V173fs*7(1)|p.V172fs*9(1)|p.H168fs*69(1)|p.S149fs*72(1)|p.E171_V172delEV(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)		CAGCGCCTCACAACCTCCGTC	0.662		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)			31	27					0	0	1	0	0	T	7578413	C	T	7578413	3	4	172	1	0	0	0	0	1	0	0	0	16378	478	17	3	781	3	TP53	17	7578413	Missense_Mutation	SNP	C	TCGA-HT-7479-01A-11D-2024-08		7578413	73616797	19	7614											
KRT38	8687	broad.mit.edu	37	chr17	39596991	39596991	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagaggctggggcggcccagGggagtggaccccacacggac	8	2	18	13	2	0	1	0	0	0	1	0	4	0	4	3	8	0	1	3	8	0	0			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr17:39596991G>A	uc002hwq.1	-	0	606	c.183C>T	c.(181-183)ccC>ccT	p.P61P		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	61	Head.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GGCGGCCCAGGGGAGTGGACC	0.637													6	78					0	0	1	0	0	A	39596991	G	A	39596991	2	1	172	1	0	0	0	0	0	0	0	1	8475	1219	43	3		3	KRT38	17	39596991	Silent	SNP	G	TCGA-HT-7479-01A-11D-2024-08	32018578	39596991	41598219	20	7615											
TTYH2	94015	broad.mit.edu	37	chr17	72233513	72233513	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatctttgctgcccggggCgattacctgcagaccctgaa	8	9	12	12	2	1	3	0	1	1	2	1	5	1	3	3	2	4	2	3	2	2	2			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr17:72233513C>T	uc002jkc.3	+	3	526	c.495C>T	c.(493-495)ggC>ggT	p.G165G	TTYH2_uc010wqw.2_Silent_p.G144G	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	Homo sapiens tweety homolog 2 (Drosophila) (TTYH2), transcript variant 1, mRNA.	165						chloride channel complex|plasma membrane	chloride channel activity|protein binding	p.R164W(1)|p.G165fs*7(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CTGCCCGGGGCGATTACCTGC	0.597													19	61					0	0	1	0	0	T	72233513	C	T	72233513	2	4	172	1	0	0	0	0	0	0	0	1	16737	755	27	1		1	TTYH2	17	72233513	Silent	SNP	C	TCGA-HT-7479-01A-11D-2024-08	32636522	72233513	8961697	21	7616											
OTOP2	92736	broad.mit.edu	37	chr17	72923807	72923807	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacctggccatctggatggCggccgtggtggatgaatctg	7	9	15	10	2	2	1	0	1	2	0	2	3	2	3	3	6	1	0	3	6	2	0			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr17:72923807C>A	uc010wrp.2	+	4	649	c.557C>A	c.(556-558)gCg>gAg	p.A186E	OTOP2_uc002jmf.1_3'UTR	NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	Homo sapiens otopetrin 2 (OTOP2), mRNA.	186						integral to membrane		p.A186V(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					ATCTGGATGGCGGCCGTGGTG	0.577													4	43					0.00909568	0.00956615	1	1	0	A	72923807	C	A	72923807	3	1	172	1	0	0	0	0	1	0	0	0	11306	768	27	5	571	5	OTOP2	17	72923807	Missense_Mutation	SNP	C	TCGA-HT-7479-01A-11D-2024-08	690294	72923807	8271403	22	7617											
PLVAP	83483	broad.mit.edu	37	chr19	17487967	17487967	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccatagaccatgaagagcAcgagccccaggatgatgagg	13	5	13	10	1	0	5	0	3	0	2	0	7	0	6	4	2	3	1	4	2	2	1			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr19:17487967A>G	uc002ngk.1	-	0	171	c.131T>C	c.(130-132)gTg>gCg	p.V44A		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA.	44						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CATGAAGAGCACGAGCCCCAG	0.612													19	53					0	0	1	0	0	G	17487967	A	G	17487967	3	3	172	1	0	0	0	0	1	0	0	0	12116	159	6	3	1221	3	PLVAP	19	17487967	Missense_Mutation	SNP	A	TCGA-HT-7479-01A-11D-2024-08		17487967	41641016	23	7618											
ZNF320	162967	broad.mit.edu	37	chr19	53384195	53384195	+	Frame_Shift_Del	DEL	C	C	-																															atgcgaggtacgcttttgtaCtaaaaaccttgccacattca																										TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr19:53384195delC	uc002qag.3	-	3	1375	c.1184delG	c.(1183-1185)agtfs	p.S395fs	ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.3_Frame_Shift_Del_p.S341fs|ZNF320_uc002qai.3_Frame_Shift_Del_p.S395fs	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	Homo sapiens zinc finger protein 320 (ZNF320), mRNA.	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		CGCTTTTGTACTAAAAACCTT	0.403													38	104	---	---	---	---						-	53384195	C	-	53384195	7	5	172	1	0	1	0	1	0	0	0	0	17836	565	20	0	349	0	ZNF320	19	53384195	Frame_Shift_Del	DEL	C	TCGA-HT-7479-01A-11D-2024-08	35896228	53384195	5744788	24	7619											
ASPHD2	57168	broad.mit.edu	37	chr22	26829961	26829961	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggcctcaaccagaagctgtAccacaacctgcaggagtacg	12	5	11	13	1	1	1	1	0	0	1	1	2	1	2	4	2	6	4	4	2	5	2			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr22:26829961A>G	uc003acg.2	+	1	777	c.380A>G	c.(379-381)tAc>tGc	p.Y127C		NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN	Homo sapiens aspartate beta-hydroxylase domain containing 2 (ASPHD2), mRNA.	127					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						CAGAAGCTGTACCACAACCTG	0.652													12	39					0	0	1	0	0	G	26829961	A	G	26829961	3	3	172	1	0	0	0	0	1	0	0	0	1055	391	14	3	382	3	ASPHD2	22	26829961	Missense_Mutation	SNP	A	TCGA-HT-7479-01A-11D-2024-08		26829961	24474605	25	7620											
FAM47A	158724	broad.mit.edu	37	chrX	34149060	34149060	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttttcttcacccgggcctCacaacgatcccatacgtcct	8	11	6	16	3	3	0	2	0	1	0	5	1	5	0	4	1	2	1	4	1	2	4			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chrX:34149060C>G	uc004ddg.3	-	0	1388	c.1336G>C	c.(1336-1338)Gag>Cag	p.E446Q		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	446										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACCCGGGCCTCACAACGATCC	0.557													17	19					0	0	1	0	0	G	34149060	C	G	34149060	3	3	172	1	0	0	0	0	1	0	0	0	5569	835	29	5	1043	5	FAM47A	23	34149060	Missense_Mutation	SNP	C	TCGA-HT-7479-01A-11D-2024-08		34149060	121121500	26	7621											
LOC649330	649330	broad.mit.edu	37	chr1	12907458	12907458	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagtctcatctttcttcaTggagctactgctctgctcct	6	16	7	12	0	5	1	2	1	4	0	7	2	6	2	1	1	4	3	1	1	1	3			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr1:12907458T>C	uc010obf.2	-	1	911	c.685A>G	c.(685-687)Atg>Gtg	p.M229V	LOC649330_uc009vno.2_Missense_Mutation_p.M229V	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	229							nucleic acid binding|nucleotide binding										TCTTTCTTCATGGAGCTACTG	0.458													4	82					0	0	1	0	0	C	12907458	T	C	12907458	3	2	173	1	0	0	0	0	1	0	0	0	8885	1464	51	3	200	3	LOC649330	1	12907458	Missense_Mutation	SNP	T	TCGA-HT-7480-01A-11D-2086-08		12907458	236343163	1	7622											
PEF1	553115	broad.mit.edu	37	chr1	32101082	32101082	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccagggtagtagctaccCggaggggctcctggtgcttg	5	9	17	10	1	0	0	0	0	0	0	2	1	2	1	3	6	3	5	3	6	3	4			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr1:32101082C>T	uc001bth.2	-	1	439	c.66G>A	c.(64-66)ccG>ccA	p.P22P	PEF1_uc021okp.1_5'UTR|PEF1_uc021okq.1_Intron|PEF1_uc001bte.1_5'Flank|PEF1_uc010ogm.2_Silent_p.P22P	NM_012392	NP_036524	Q9UBV8	PEF1_HUMAN	Homo sapiens penta-EF-hand domain containing 1 (PEF1), transcript variant 1, mRNA.	22	9 X 9 AA approximate tandem repeat of [AP]-P-G-G-P-Y-G-G-P-P.				response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		AGTAGCTACCCGGAGGGGCTC	0.597													3	12					0	0	1	0	0	T	32101082	C	T	32101082	2	4	173	1	0	0	0	0	0	0	0	1	11718	639	23	2		2	PEF1	1	32101082	Silent	SNP	C	TCGA-HT-7480-01A-11D-2086-08	19193624	32101082	217149539	2	7623											
NPR1	4881	broad.mit.edu	37	chr1	153655965	153655965	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaaatgtggctttgacaaCgaagacccagcatgcaacca	14	6	8	13	1	0	2	0	1	0	1	0	3	0	2	3	1	4	3	3	1	4	1	rs142090901	byFrequency	TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr1:153655965C>T	uc001fcs.4	+	5	1798	c.1377C>T	c.(1375-1377)aaC>aaT	p.N459N	NPR1_uc010pdz.2_Silent_p.N205N|NPR1_uc010pea.2_5'Flank	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	459					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	p.N459N(2)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GCTTTGACAACGAAGACCCAG	0.587													25	110					0	0	1	0	0	T	153655965	C	T	153655965	2	4	173	1	0	0	0	0	0	0	0	1	10594	535	19	1		1	NPR1	1	153655965	Silent	SNP	C	TCGA-HT-7480-01A-11D-2086-08	121554883	153655965	95594656	3	7624											
CD244	51744	broad.mit.edu	37	chr1	160811091	160811091	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaggtatatgtgtgagtGccattaatgtcaacctcctc	9	14	9	9	0	1	1	1	1	0	0	3	1	2	1	3	1	3	2	3	1	4	4			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr1:160811091G>A	uc009wtq.3	-	2	804	c.579C>T	c.(577-579)ggC>ggT	p.G193G	CD244_uc001fxa.3_Silent_p.G188G|CD244_uc009wtr.3_Intron|CD244_uc009wtp.3_Non-coding_Transcript|CD244_uc010pjt.2_Non-coding_Transcript	NM_001166663	NP_001160135	Q9BZW8	CD244_HUMAN	Homo sapiens CD244 molecule, natural killer cell receptor 2B4 (CD244), transcript variant 2, mRNA.	193	Ig-like 2.				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ATGTGTGAGTGCCATTAATGT	0.517													28	123					0	0	1	0	0	A	160811091	G	A	160811091	2	1	173	1	0	0	0	0	0	0	0	1	2987	1306	46	3		3	CD244	1	160811091	Silent	SNP	G	TCGA-HT-7480-01A-11D-2086-08	7155126	160811091	88439530	4	7625											
SLC26A9	115019	broad.mit.edu	37	chr1	205897099	205897099	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagccaggttgatgacgtaGctcacgatggctagggagaa	12	8	14	7	2	1	3	1	2	0	1	1	5	1	3	1	3	2	4	1	3	4	4			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr1:205897099G>A	uc001hdp.3	-	8	1146	c.1032C>T	c.(1030-1032)agC>agT	p.S344S	SLC26A9_uc001hdo.3_Silent_p.S12S|SLC26A9_uc001hdq.3_Silent_p.S344S	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	344						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TGATGACGTAGCTCACGATGG	0.632													10	73					0	0	1	0	0	A	205897099	G	A	205897099	2	1	173	1	0	0	0	0	0	0	0	1	14524	962	34	3		3	SLC26A9	1	205897099	Silent	SNP	G	TCGA-HT-7480-01A-11D-2086-08	45086008	205897099	43353522	5	7626											
TMEM17	200728	broad.mit.edu	37	chr2	62733243	62733243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagtttcccagccgctggcGcaccggatccggcagctcca	7	6	12	16	4	0	0	0	0	0	0	3	2	3	1	5	3	2	5	5	3	1	1			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr2:62733243G>A	uc002sbt.2	-	0	362	c.22C>T	c.(22-24)Cgc>Tgc	p.R8C	TMEM17_uc002sbu.2_Missense_Mutation_p.R8C|TMEM17_uc002sbv.1_Intron	NM_198276	NP_938017	Q86X19	TMM17_HUMAN	Homo sapiens transmembrane protein 17 (TMEM17), mRNA.	8						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			AGCCGCTGGCGCACCGGATCC	0.672													3	22					0	0	1	0	0	A	62733243	G	A	62733243	3	1	173	1	0	0	0	0	1	0	0	0	16082	1087	38	1	590	1	TMEM17	2	62733243	Missense_Mutation	SNP	G	TCGA-HT-7480-01A-11D-2086-08		62733243	180466130	6	7627											
AFTPH	54812	broad.mit.edu	37	chr2	64779134	64779134	+	Frame_Shift_Del	DEL	C	C	-																															agagctgcaatggtgaaaagCctccttgtctggagattcta																										TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr2:64779134delC	uc002sdc.3	+	0	558	c.526delC	c.(526-528)cctfs	p.P176fs	AFTPH_uc002scz.3_Frame_Shift_Del_p.P176fs|AFTPH_uc002sda.3_Frame_Shift_Del_p.P176fs|AFTPH_uc002sdb.3_Frame_Shift_Del_p.P176fs	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	Homo sapiens aftiphilin (AFTPH), transcript variant 1, mRNA.	176					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TGGTGAAAAGCCTCCTTGTCT	0.403													18	84	---	---	---	---						-	64779134	C	-	64779134	7	5	173	1	0	1	0	1	0	0	0	0	364	739	26	0	528	0	AFTPH	2	64779134	Frame_Shift_Del	DEL	C	TCGA-HT-7480-01A-11D-2086-08	2045891	64779134	178420239	7	7628											
MCM6	4175	broad.mit.edu	37	chr2	136626216	136626216	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaatcttgatttatttgtatCcagtaagaatctcctcctgt	11	17	5	8	0	2	2	0	1	2	1	5	2	4	2	3	0	0	2	3	0	5	6			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr2:136626216C>A	uc002tuw.3	-	3	656	c.580G>T	c.(580-582)Gat>Tat	p.D194Y		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	194					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TTATTTGTATCCAGTAAGAAT	0.373													5	120					0.0215528	0.0220018	1	1	0	A	136626216	C	A	136626216	3	1	173	1	0	0	0	0	1	0	0	0	9391	855	30	5	1941	5	MCM6	2	136626216	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08	71847082	136626216	106573157	8	7629											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								36	50					0	0	1	0	0	T	209113112	C	T	209113112	3	4	173	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08	72486896	209113112	34086261	9	7630											
TLR9	54106	broad.mit.edu	37	chr3	52255381	52255381	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcggcagaggcgctggCgcagccgcacgtagcgggag	6	4	19	12	6	1	1	0	0	1	1	1	2	1	2	1	5	2	5	1	5	1	1			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr3:52255381C>A	uc003ddb.3	-	4	3452	c.3242G>T	c.(3241-3243)cGc>cTc	p.R1081L	TLR9_uc003dda.2_Missense_Mutation_p.R984L	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	Homo sapiens toll-like receptor 9 (TLR9), mRNA.	984					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GAGGCGCTGGCGCAGCCGCAC	0.706													5	25					0.014758	0.015386	1	1	0	A	52255381	C	A	52255381	3	1	173	1	0	0	0	0	1	0	0	0	15955	768	27	5	151	5	TLR9	3	52255381	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08		52255381	145767049	10	7631											
DKK2	27123	broad.mit.edu	37	chr4	107956682	107956682	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgatctgtgagctctccaCcatcagcaccgcggccagta	8	7	10	16	3	3	1	1	1	2	0	4	2	3	1	5	1	2	3	5	1	1	1			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr4:107956682C>G	uc003hyi.3	-	0	772	c.67G>C	c.(67-69)Gtg>Ctg	p.V23L	DKK2_uc010ilw.1_Intron|DKK2_uc003hyj.1_Missense_Mutation_p.V23L	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	23					Wnt receptor signaling pathway|multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GAGCTCTCCACCATCAGCACC	0.647													4	165					0	0	1	0	0	G	107956682	C	G	107956682	3	3	173	1	0	0	0	0	1	0	0	0	4545	507	18	5	728	5	DKK2	4	107956682	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08		107956682	83197594	11	7632											
ENPP3	5169	broad.mit.edu	37	chr6	132059230	132059230	+	Frame_Shift_Del	DEL	G	G	-																															atgccacagaaagaaatggaGtaaatgtggttagtggacca																										TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr6:132059230delG	uc003qcu.4	+	23	2574	c.2227delG	c.(2227-2229)gtafs	p.V743fs	ENPP3_uc003qcv.3_Frame_Shift_Del_p.V743fs|ENPP3_uc010kfq.3_Non-coding_Transcript	NM_005021	NP_005012	O14638	ENPP3_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 3 (ENPP3), mRNA.	743	Nuclease.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AAGAAATGGAGTAAATGTGGT	0.313													14	49	---	---	---	---						-	132059230	G	-	132059230	7	5	173	1	0	1	0	1	0	0	0	0	5131	1029	36	0	2317	0	ENPP3	6	132059230	Frame_Shift_Del	DEL	G	TCGA-HT-7480-01A-11D-2086-08		132059230	39055837	12	7633											
PDGFA	5154	broad.mit.edu	37	chr7	540795	540795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggattcaggcttgtggtcgCgcaggcgcactccaaatgct	7	9	13	12	4	1	0	1	0	0	0	3	1	2	1	1	4	1	4	1	4	1	2			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr7:540795C>T	uc003sir.3	-	4	1381	c.538G>A	c.(538-540)Gcg>Acg	p.A180T	PDGFA_uc003sis.3_Missense_Mutation_p.A180T|PDGFA_uc003sit.1_Missense_Mutation_p.A194T	NM_002607	NP_002598	P04085	PDGFA_HUMAN	Homo sapiens platelet-derived growth factor alpha polypeptide (PDGFA), transcript variant 1, mRNA.	180					actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of cell division|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development	Golgi membrane|cell surface|endoplasmic reticulum lumen|extracellular space|microvillus|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)		CTTGTGGTCGCGCAGGCGCAC	0.542													14	211					0	0	1	0	0	T	540795	C	T	540795	3	4	173	1	0	0	0	0	1	0	0	0	11657	768	27	1	120	1	PDGFA	7	540795	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08		540795	158597868	13	7634											
DNAH11	8701	broad.mit.edu	37	chr7	21789848	21789848	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctttggggcaggagaaatcCcagatctgttcagcgatgaa	11	10	12	8	1	3	3	1	1	2	2	4	5	4	3	1	3	1	2	1	3	2	2			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr7:21789848C>G	uc003svc.3	+	54	8858	c.8827C>G	c.(8827-8829)Cca>Gca	p.P2943A		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2943	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGGAGAAATCCCAGATCTGTT	0.348									Kartagener syndrome				6	10					0	0	1	0	0	G	21789848	C	G	21789848	3	3	173	1	0	0	0	0	1	0	0	0	4599	623	22	5	9042	5	DNAH11	7	21789848	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08	21249053	21789848	137348815	14	7635											
ADAM32	203102	broad.mit.edu	37	chr8	39114706	39114706	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttgtatttctgtttttagGttcaatcatggaaagagcat	10	19	8	4	0	3	1	2	0	1	1	3	2	3	2	0	2	1	4	0	2	4	8			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr8:39114706G>T	uc003xmt.4	+	19	2251	c.2006_splice	c.e19-1	p.G669_splice	ADAM32_uc011lch.2_Splice_Site_p.G570_splice|ADAM32_uc003xmu.4_Splice_Site_p.G563_splice|ADAM32_uc003xmv.3_Splice_Site_p.G93_splice	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	669					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CTGTTTTTAGGTTCAATCATG	0.308													5	11					0.014758	0.015386	1	1	0	T	39114706	G	T	39114706	5	4	173	1	0	0	0	0	0	0	1	0	249	1275	44	5	2080	5	ADAM32	8	39114706	Splice_Site	SNP	G	TCGA-HT-7480-01A-11D-2086-08		39114706	107249316	15	7636											
HRSP12	10247	broad.mit.edu	37	chr8	99129320	99129320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcacccttctgatcaaggacGacatggctaagccttccctc	9	10	7	15	1	3	1	2	1	1	0	5	3	4	2	3	2	1	1	3	2	2	3			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr8:99129320G>A	uc003yii.1	-	0	99	c.5C>T	c.(4-6)tCg>tTg	p.S2L	POP1_uc003yij.4_5'Flank|POP1_uc011lgv.2_5'Flank|POP1_uc003yik.3_5'Flank	NM_005836	NP_005827	P52758	UK114_HUMAN	Homo sapiens heat-responsive protein 12 (HRSP12), mRNA.	2					regulation of translational termination	nucleus	endonuclease activity			large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	6	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			GATCAAGGACGACATGGCTAA	0.612													10	78					0	0	1	0	0	A	99129320	G	A	99129320	3	1	173	1	0	0	0	0	1	0	0	0	7360	1059	37	2	432	2	HRSP12	8	99129320	Missense_Mutation	SNP	G	TCGA-HT-7480-01A-11D-2086-08	60014614	99129320	47234702	16	7637											
FOXD4	2298	broad.mit.edu	37	chr9	117891	117891	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaactctgaggggtcgcTcgggccgccgccgccctcga	5	5	14	17	6	1	1	0	1	1	0	4	2	1	1	5	3	1	1	5	3	1	0			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr9:117891T>G	uc003zfz.3	-	0	527	c.229A>C	c.(229-231)Agc>Cgc	p.S77R		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	Homo sapiens forkhead box D4 (FOXD4), mRNA.	77					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GAGGGGTCGCTCGGGCCGCCG	0.706													19	97					0	0	1	0	0	G	117891	T	G	117891	3	3	173	1	0	0	0	0	1	0	0	0	5999	1551	54	5	1094	5	FOXD4	9	117891	Missense_Mutation	SNP	T	TCGA-HT-7480-01A-11D-2086-08		117891	141095540	17	7638											
PIGO	84720	broad.mit.edu	37	chr9	35093984	35093984	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccacagtggtccacacccagGaagtgagcaatcagcacgtc	12	5	10	14	1	1	1	1	1	0	0	3	2	2	2	3	2	2	2	3	2	2	0			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr9:35093984G>A	uc003zwd.3	-	3	1089	c.693C>T	c.(691-693)ttC>ttT	p.F231F	PIGO_uc003zwe.3_Silent_p.F231F|PIGO_uc003zwf.3_Silent_p.F231F|PIGO_uc003zwc.1_Silent_p.F231F|PIGO_uc003zwg.2_5'UTR	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	231				DVLIAHF -> EVSNQHV (in Ref. 7; AAH01030).	C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCACACCCAGGAAGTGAGCAA	0.557													12	42					0	0	1	0	0	A	35093984	G	A	35093984	2	1	173	1	0	0	0	0	0	0	0	1	11894	1165	41	3		3	PIGO	9	35093984	Silent	SNP	G	TCGA-HT-7480-01A-11D-2086-08	34976093	35093984	106119447	18	7639											
FBXO18	84893	broad.mit.edu	37	chr10	5948527	5948527	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgtgtttgccttcctcccgGtggaagacctctattggaac	7	12	10	12	2	1	1	0	0	1	1	3	3	3	3	4	3	2	1	4	3	3	4			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr10:5948527G>T	uc001iit.3	+	3	942	c.838G>T	c.(838-840)Gtg>Ttg	p.V280L	FBXO18_uc001iir.3_Missense_Mutation_p.V155L|FBXO18_uc001iis.3_Missense_Mutation_p.V229L|FBXO18_uc009xig.3_Missense_Mutation_p.V155L	NM_032807	NP_835363	Q8NFZ0	FBX18_HUMAN	Homo sapiens F-box protein, helicase, 18 (FBXO18), transcript variant 1, mRNA.	229					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.P279P(1)		NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CTTCCTCCCGGTGGAAGACCT	0.567													29	95					5.90632e-09	6.89071e-09	1	1	0	T	5948527	G	T	5948527	3	4	173	1	0	0	0	0	1	0	0	0	5731	1261	44	5	857	5	FBXO18	10	5948527	Missense_Mutation	SNP	G	TCGA-HT-7480-01A-11D-2086-08		5948527	129586220	19	7640											
MUC5B	727897	broad.mit.edu	37	chr11	1269703	1269703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacagctcacactaccaaaGtgccgactaccacaaccacg	15	4	6	16	2	1	0	1	0	0	0	1	2	1	0	4	0	6	1	4	0	5	2			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr11:1269703G>A	uc001lta.3	+	30	11652	c.11593G>A	c.(11593-11595)Gtg>Atg	p.V3865M		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3865	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACTACCAAAGTGCCGACTAC	0.642													18	131					0	0	1	0	0	A	1269703	G	A	1269703	3	1	173	1	0	0	0	0	1	0	0	0	9979	1029	36	3	11724	3	MUC5B	11	1269703	Missense_Mutation	SNP	G	TCGA-HT-7480-01A-11D-2086-08		1269703	133736813	20	7641											
DCHS1	8642	broad.mit.edu	37	chr11	6653011	6653011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagctgctctgctgctcacGgtccagggtttggagtgtgg	5	12	15	9	1	2	0	1	0	1	0	3	1	3	1	1	4	4	5	1	4	1	2			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr11:6653011G>A	uc001mem.1	-	6	3912	c.3511C>T	c.(3511-3513)Cgt>Tgt	p.R1171C		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	1171	Cadherin 11.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCTGCTCACGGTCCAGGGTT	0.577													27	23					0	0	1	0	0	A	6653011	G	A	6653011	3	1	173	1	0	0	0	0	1	0	0	0	4287	1116	39	2	6445	2	DCHS1	11	6653011	Missense_Mutation	SNP	G	TCGA-HT-7480-01A-11D-2086-08	5383308	6653011	128353505	21	7642											
CD163L1	283316	broad.mit.edu	37	chr12	7586119	7586119	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagtcacggcttgtccaaaaCgaaacatggcgaaagaaaat	17	7	9	8	3	1	1	1	0	0	1	2	3	2	1	1	2	2	1	1	2	7	2	rs146684411	byFrequency	TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr12:7586119C>A	uc010sge.2	-	2	322	c.296G>T	c.(295-297)cGt>cTt	p.R99L	CD163L1_uc001qsy.3_Missense_Mutation_p.R99L	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	99	SRCR 1.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.R99H(2)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TTGTCCAAAACGAAACATGGC	0.478													8	93					0.000978159	0.00108931	1	1	0	A	7586119	C	A	7586119	3	1	173	1	0	0	0	0	1	0	0	0	2968	536	19	5	4133	5	CD163L1	12	7586119	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08		7586119	126265776	22	7643											
LRRK2	120892	broad.mit.edu	37	chr12	40704242	40704242	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccctccaggctcgcgctTcttcttcccctgtgattctc	2	16	6	17	2	3	1	0	1	3	0	8	1	6	1	4	1	0	2	4	1	0	5			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr12:40704242T>A	uc001rmg.4	+	30	4448	c.4327T>A	c.(4327-4329)Tct>Act	p.S1443T	LRRK2_uc009zjw.3_Missense_Mutation_p.S281T|LRRK2_uc001rmi.3_Missense_Mutation_p.S276T	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	1443	Roc.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGCTCGCGCTTCTTCTTCCCC	0.458													4	89					0	0	1	0	0	A	40704242	T	A	40704242	3	1	173	1	0	0	0	0	1	0	0	0	9033	1783	62	5	4449	5	LRRK2	12	40704242	Missense_Mutation	SNP	T	TCGA-HT-7480-01A-11D-2086-08	33118123	40704242	93147653	23	7644											
LATS2	26524	broad.mit.edu	37	chr13	21549240	21549240	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgctaccttcgctggcatcGttccaagggctttcttcatc	5	14	9	13	2	2	0	1	0	1	0	6	0	3	0	2	2	2	5	2	2	2	5			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr13:21549240G>A	uc009zzs.3	-	7	3401	c.3036C>T	c.(3034-3036)aaC>aaT	p.N1012N	LATS2_uc001unr.4_Silent_p.N1012N	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA.	1012	AGC-kinase C-terminal.				G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CGCTGGCATCGTTCCAAGGGC	0.557													47	135					0	0	1	0	0	A	21549240	G	A	21549240	2	1	173	1	0	0	0	0	0	0	0	1	8647	1136	40	1		1	LATS2	13	21549240	Silent	SNP	G	TCGA-HT-7480-01A-11D-2086-08		21549240	93620638	24	7645											
OR4K2	390431	broad.mit.edu	37	chr14	20345254	20345254	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attctgtctgtgttttatacCatctttactcccactctgaa	8	18	4	11	0	4	1	0	1	4	0	5	1	5	1	2	0	2	1	2	0	4	6			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr14:20345254C>A	uc001vwh.1	+	0	828	c.828C>A	c.(826-828)acC>acA	p.T276T		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTTTTATACCATCTTTACTC	0.358													16	93					3.52763e-06	4.01986e-06	1	1	0	A	20345254	C	A	20345254	2	1	173	1	0	0	0	0	0	0	0	1	11072	581	21	5		5	OR4K2	14	20345254	Silent	SNP	C	TCGA-HT-7480-01A-11D-2086-08		20345254	87004286	25	7646											
MAX	4149	broad.mit.edu	37	chr14	65544633	65544633	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgagctcgggtgctcacctTgctgctccagaagagcattc	8	9	11	13	2	1	2	1	0	0	2	4	3	2	2	2	1	5	5	2	1	1	2			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr14:65544633T>G	uc001xif.1	-	3	463	c.293A>C	c.(292-294)cAa>cCa	p.Q98P	MAX_uc001xic.1_Intron|MAX_uc001xie.1_Missense_Mutation_p.Q98P|MAX_uc001xig.1_Missense_Mutation_p.Q89P|MAX_uc001xih.1_Non-coding_Transcript|MAX_uc001xii.1_Missense_Mutation_p.Q89P|MAX_uc001xij.1_Missense_Mutation_p.Q98P	NM_002382	NP_002373	P61244	MAX_HUMAN	Homo sapiens MYC associated factor X (MAX), transcript variant 1, mRNA.	98	Leucine-zipper.				transcription from RNA polymerase II promoter	MLL1 complex|cytoplasm	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GTGCTCACCTTGCTGCTCCAG	0.557													15	57					0	0	1	0	0	G	65544633	T	G	65544633	3	3	173	1	0	0	0	0	1	0	0	0	9339	1812	63	5	413	5	MAX	14	65544633	Missense_Mutation	SNP	T	TCGA-HT-7480-01A-11D-2086-08	45199379	65544633	41804907	26	7647											
GINS2	51659	broad.mit.edu	37	chr16	85722433	85722433	+	Frame_Shift_Del	DEL	G	G	-																															accccgatgaggtagatcttGtccagactgaagttggggat																										TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr16:85722433delG	uc002fja.3	-	0	156	c.72delC	c.(70-72)gacfs	p.D24fs	GINS2_uc002fjb.2_Frame_Shift_Del_p.D24fs	NM_016095	NP_057179	Q9Y248	PSF2_HUMAN	Homo sapiens GINS complex subunit 2 (Psf2 homolog) (GINS2), mRNA.	24					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)	6						GGTAGATCTTGTCCAGACTGA	0.692													2	4	---	---	---	---						-	85722433	G	-	85722433	7	5	173	1	0	1	0	1	0	0	0	0	6388	1368	48	0	505	0	GINS2	16	85722433	Frame_Shift_Del	DEL	G	TCGA-HT-7480-01A-11D-2086-08		85722433	4632320	27	7648											
MYH8	4626	broad.mit.edu	37	chr17	10300214	10300214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaacttcattctggagcCgctgcttcgtcttctcaagg	6	14	8	13	2	5	0	3	0	3	0	7	1	5	1	1	2	3	2	1	2	2	5			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr17:10300214C>T	uc002gmm.2	-	30	4363	c.4268G>A	c.(4267-4269)cGg>cAg	p.R1423Q	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1423					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATTCTGGAGCCGCTGCTTCGT	0.488									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				19	43					0	0	1	0	0	T	10300214	C	T	10300214	3	4	173	1	0	0	0	0	1	0	0	0	10041	652	23	2	1585	2	MYH8	17	10300214	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08		10300214	70894996	28	7649											
SUPT6H	6830	broad.mit.edu	37	chr17	27018008	27018008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgagagctatgaccaggCgatccgcaatgatgagacag	12	6	15	8	2	0	4	0	4	0	2	1	7	1	4	2	2	1	2	2	2	2	1			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr17:27018008C>T	uc010crt.3	+	27	3752	c.3560C>T	c.(3559-3561)gCg>gTg	p.A1187V	SUPT6H_uc002hby.3_Missense_Mutation_p.A1187V|SUPT6H_uc002hbz.1_Missense_Mutation_p.A119V	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	1187					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TATGACCAGGCGATCCGCAAT	0.552													8	57					0	0	1	0	0	T	27018008	C	T	27018008	3	4	173	1	0	0	0	0	1	0	0	0	15397	768	27	1	3662	1	SUPT6H	17	27018008	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08	16717794	27018008	54177202	29	7650											
KRT37	8688	broad.mit.edu	37	chr17	39580429	39580429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaccttctccaggtagttgGccaggcggtcattcaggaac	8	9	12	12	1	3	0	2	0	1	0	4	1	3	1	3	5	1	3	3	5	2	4			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr17:39580429G>A	uc002hwp.1	-	0	394	c.347C>T	c.(346-348)gCc>gTc	p.A116V		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	116	Coil 1A.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CAGGTAGTTGGCCAGGCGGTC	0.582													37	90					0	0	1	0	0	A	39580429	G	A	39580429	3	1	173	1	0	0	0	0	1	0	0	0	8474	1203	42	3	1030	3	KRT37	17	39580429	Missense_Mutation	SNP	G	TCGA-HT-7480-01A-11D-2086-08	12562421	39580429	41614781	30	7651											
ST6GALNAC1	55808	broad.mit.edu	37	chr17	74625638	74625638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctttcctctgtctccggtgGtgtgggccttgggctgggtt	0	15	15	11	1	2	0	0	0	2	0	4	0	3	0	4	5	0	2	4	5	0	3			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr17:74625638G>A	uc002jsh.3	-	1	461	c.287C>T	c.(286-288)aCc>aTc	p.T96I	ST6GALNAC1_uc002jsi.3_5'UTR|ST6GALNAC1_uc002jsj.3_Non-coding_Transcript	NM_018414	NP_060884	Q9NSC7	SIA7A_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 (ST6GALNAC1), mRNA.	96					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GTCTCCGGTGGTGTGGGCCTT	0.597													8	40					0	0	1	0	0	A	74625638	G	A	74625638	3	1	173	1	0	0	0	0	1	0	0	0	15222	1261	44	3	1547	3	ST6GALNAC1	17	74625638	Missense_Mutation	SNP	G	TCGA-HT-7480-01A-11D-2086-08	35045209	74625638	6569572	31	7652											
USP14	9097	broad.mit.edu	37	chr18	202880	202880	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgttatgttctttcttagCgacttcaggaagaaatcacc	10	15	7	9	1	5	1	2	0	3	1	5	3	5	2	1	1	1	2	1	1	4	5			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr18:202880C>T	uc002kkf.1	+	11	1093	c.877_splice	c.e11-1	p.R293_splice	USP14_uc002kkg.1_Splice_Site_p.R258_splice|USP14_uc010wyr.1_Splice_Site_p.R282_splice	NM_005151	NP_005142	P54578	UBP14_HUMAN	Homo sapiens ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase) (USP14), transcript variant 1, mRNA.	293					regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TCTTTCTTAGCGACTTCAGGA	0.353													9	43					0	0	1	0	0	T	202880	C	T	202880	5	4	173	1	0	0	0	0	0	0	1	0	17042	782	27	1	919	1	USP14	18	202880	Splice_Site	SNP	C	TCGA-HT-7480-01A-11D-2086-08		202880	77874368	32	7653											
ZNF98	148198	broad.mit.edu	37	chr19	22574657	22574657	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattcttcacatttgtagggTttctctccagtatgaattat	9	18	6	8	0	3	1	1	1	2	0	5	1	4	1	1	1	0	3	1	1	4	7			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr19:22574657T>C	uc002nqt.2	-	3	1502	c.1380A>G	c.(1378-1380)aaA>aaG	p.K460K		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				ATTTGTAGGGTTTCTCTCCAG	0.373													4	84					0	0	1	0	0	C	22574657	T	C	22574657	2	2	173	1	0	0	0	0	0	0	0	1	18200	1722	60	3		3	ZNF98	19	22574657	Silent	SNP	T	TCGA-HT-7480-01A-11D-2086-08		22574657	36554326	33	7654											
ZNF91	7644	broad.mit.edu	37	chr19	23542477	23542477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttgtagggtttctctcCggtgtgcaacctcttatgtc	6	16	9	10	1	2	0	0	0	2	0	5	0	3	0	2	2	2	3	2	2	3	4			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr19:23542477C>T	uc002nre.3	-	3	3417	c.3304G>A	c.(3304-3306)Gga>Aga	p.G1102R	ZNF91_uc002nrd.3_5'Flank|ZNF91_uc010xrj.2_Missense_Mutation_p.G1070R	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	1102						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTTCTCTCCGGTGTGCAAC	0.398													23	53					0	0	1	0	0	T	23542477	C	T	23542477	3	4	173	1	0	0	0	0	1	0	0	0	18197	661	23	2	275	2	ZNF91	19	23542477	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08	967820	23542477	35586506	34	7655											
CIC	23152	broad.mit.edu	37	chr19	42796451	42796451	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatttcctctcctgcggcaGaatcacctatgtgcagtcag	8	11	8	14	1	3	1	2	0	1	1	5	1	4	1	4	1	2	2	4	1	2	2			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr19:42796451G>T	uc002otf.1	+	13	3049	c.3009_splice	c.e13-1	p.R1003_splice		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1003	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TCCTGCGGCAGAATCACCTAT	0.662			"Mis, F, S"		oligodendroglioma								35	57					2.54651e-27	3.04339e-27	1	1	0	T	42796451	G	T	42796451	5	4	173	1	0	0	0	0	0	0	1	0	3424	956	33	5	3058	5	CIC	19	42796451	Splice_Site	SNP	G	TCGA-HT-7480-01A-11D-2086-08	19253974	42796451	16332532	35	7656											
CHGB	1114	broad.mit.edu	37	chr20	5905619	5905619	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttttctgtattttccagaAaaaagaactcgaaaacttgg	15	13	6	7	1	1	2	0	0	1	2	3	3	2	2	1	1	2	1	1	1	7	6			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr20:5905619A>G	uc002wmg.3	+	5	2263	c.1957_splice	c.e5-1	p.K653_splice	CHGB_uc010zqz.2_Splice_Site_p.K336_splice	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	653						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						ATTTTCCAGAAAAAAGAACTC	0.443													18	20					0	0	1	0	0	G	5905619	A	G	5905619	5	3	173	1	0	0	0	0	0	0	1	0	3339	28	1	3	1976	3	CHGB	20	5905619	Splice_Site	SNP	A	TCGA-HT-7480-01A-11D-2086-08		5905619	57119901	36	7657											
KCNG1	3755	broad.mit.edu	37	chr20	49626813	49626813	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggccgggtggaaggaggcGtccgaggtgcagctcagcgc	8	4	19	10	4	1	0	1	0	0	0	2	3	2	2	2	6	3	2	2	6	2	0			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr20:49626813G>A	uc002xwa.4	-	1	358	c.63C>T	c.(61-63)gaC>gaT	p.D21D	KCNG1_uc002xwb.3_Silent_p.D21D	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	21						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.D21D(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGAAGGAGGCGTCCGAGGTGC	0.672													6	29					0	0	1	0	0	A	49626813	G	A	49626813	2	1	173	1	0	0	0	0	0	0	0	1	8027	1136	40	1		1	KCNG1	20	49626813	Silent	SNP	G	TCGA-HT-7480-01A-11D-2086-08	43721194	49626813	13398707	37	7658											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	6	9	9	17	2	2	0	0	0	2	0	6	2	4	2	5	2	2	0	5	2	2	1	rs145580328	byFrequency	TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chrX:37028425A>G	uc004ddl.2	+	0	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	648								p.N648D(11)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													3	90					0	0	1	0	0	G	37028425	A	G	37028425	3	3	173	1	0	0	0	0	1	0	0	0	5571	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-HT-7480-01A-11D-2086-08		37028425	118242135	38	7659											
FUBP1	8880	broad.mit.edu	37	chr1	78420962	78420962	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attttcttgtagtactcttcCcaagccttggtataatcaac	10	16	5	10	0	3	0	1	0	2	0	4	0	4	0	2	1	3	3	2	1	6	9			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr1:78420962C>T	uc001dii.3	-	17	1847	c.1758G>A	c.(1756-1758)tgG>tgA	p.W586*	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Nonsense_Mutation_p.W607*	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	586					transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AGTACTCTTCCCAAGCCTTGG	0.318			"F, N"		oligodendroglioma								9	22					0	0	1	0	0	T	78420962	C	T	78420962	4	4	174	1	0	0	0	0	0	1	0	0	6092	624	22	3	188	3	FUBP1	1	78420962	Nonsense_Mutation	SNP	C	TCGA-HT-7481-01A-11D-2024-08		78420962	170829659	1	7660											
HRNR	388697	broad.mit.edu	37	chr1	152191242	152191242	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgttgttcgtagctggAggagtgacctgagccagatc	7	10	15	9	2	0	3	0	2	0	1	2	5	0	5	3	2	2	4	3	2	1	3			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr1:152191242A>G	uc001ezt.1	-	2	2939	c.2863T>C	c.(2863-2865)Tcc>Ccc	p.S955P		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	955					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCGTAGCTGGAGGAGTGACCT	0.542													91	275					0	0	1	0	0	G	152191242	A	G	152191242	3	3	174	1	0	0	0	0	1	0	0	0	7359	304	11	4	5693	4	HRNR	1	152191242	Missense_Mutation	SNP	A	TCGA-HT-7481-01A-11D-2024-08	73770280	152191242	97059379	2	7661											
SLC39A1	27173	broad.mit.edu	37	chr1	153932932	153932932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcacagctccatggccCgagcccggtctcgctgcagc	6	5	12	18	3	1	0	0	0	1	0	3	1	2	0	4	3	4	4	4	3	0	0	rs146586677	byFrequency	TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr1:153932932C>T	uc001fdl.3	-	4	1083	c.617G>A	c.(616-618)cGg>cAg	p.R206Q	CRTC2_uc021pab.1_5'Flank|SLC39A1_uc001fdi.3_Missense_Mutation_p.R206Q|SLC39A1_uc001fdj.3_Missense_Mutation_p.R206Q|SLC39A1_uc001fdk.3_Missense_Mutation_p.R206Q|SLC39A1_uc010pee.2_Missense_Mutation_p.R104Q	NM_014437	NP_055252	Q9NY26	S39A1_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 1 (SLC39A1), mRNA.	206						endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		CTCCATGGCCCGAGCCCGGTC	0.662													4	45					0	0	1	0	0	T	153932932	C	T	153932932	3	4	174	1	0	0	0	0	1	0	0	0	14612	652	23	2	361	2	SLC39A1	1	153932932	Missense_Mutation	SNP	C	TCGA-HT-7481-01A-11D-2024-08	1741690	153932932	95317689	3	7662											
TP53BP2	7159	broad.mit.edu	37	chr1	223990463	223990465	+	In_Frame_Del	DEL	CTT	CTT	-																															tctttttgctgtagagctgcCttcttcttccacagccggtc																										TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr1:223990463_223990465delCTT	uc001hod.3	-	8	1388_1390	c.577_579delAAG	c.(577-579)aagdel	p.K193del	TP53BP2_uc010pvb.2_In_Frame_Del_p.K322del|TP53BP2_uc010puz.2_5'Flank|TP53BP2_uc010pva.2_5'Flank	NM_005426	NP_005417	Q13625	ASPP2_HUMAN	Homo sapiens tumor protein p53 binding protein, 2 (TP53BP2), transcript variant 2, mRNA.	316					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|SH3 domain binding|SH3/SH2 adaptor activity|protein binding	p.K192K(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GTAGAGCTGCCTTCTTCTTCCAC	0.463													7	162	---	---	---	---						-	223990465	CTT	-	223990463	7	5	174	1	0	1	0	1	0	0	0	0	16381	680	24	0	2482	0	TP53BP2	1	223990463	In_Frame_Del	DEL	CTT	TCGA-HT-7481-01A-11D-2024-08	70057531	223990463	25260158	4	7663											
DNMT3A	1788	broad.mit.edu	37	chr2	25470985	25470985	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgggctcaggcgtggtaGccacagtgggggatgcgggg	6	5	20	10	3	1	0	1	0	0	0	1	1	1	1	2	7	2	2	2	7	1	1			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr2:25470985G>C	uc002rgc.3	-	6	1033	c.776C>G	c.(775-777)gCt>gGt	p.A259G	DNMT3A_uc002rgd.3_Missense_Mutation_p.A259G|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgb.3_Missense_Mutation_p.A70G	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.	259	Interaction with DNMT1 and DNMT3B.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.V258M(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGCGTGGTAGCCACAGTGGG	0.647			"Mis, F, N, S"		AML								23	54					0	0	1	0	0	C	25470985	G	C	25470985	3	2	174	1	0	0	0	0	1	0	0	0	4676	971	34	5	2030	5	DNMT3A	2	25470985	Missense_Mutation	SNP	G	TCGA-HT-7481-01A-11D-2024-08		25470985	217728388	5	7664											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								16	70					0	0	1	0	0	T	209113112	C	T	209113112	3	4	174	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7481-01A-11D-2024-08	183642127	209113112	34086261	6	7665											
PIK3CA	5290	broad.mit.edu	37	chr3	178917478	178917478	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttatgtaattttattaaagGttttgctatcggcatgccag	10	18	8	5	1	0	0	0	0	0	0	1	0	0	0	1	2	2	4	1	2	6	9			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr3:178917478G>A	uc003fjk.3	+	3	510	c.353_splice	c.e3-1	p.G118_splice		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	118					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.G118D(26)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TTTATTAAAGGTTTTGCTATC	0.338		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			13	76					0	0	1	0	0	A	178917478	G	A	178917478	5	1	174	1	0	0	0	0	0	0	1	0	11913	1275	44	3	359	3	PIK3CA	3	178917478	Splice_Site	SNP	G	TCGA-HT-7481-01A-11D-2024-08		178917478	19104952	7	7666											
PIK3CA	5290	broad.mit.edu	37	chr3	178928078	178928080	+	In_Frame_Del	DEL	AGA	AGA	-																															tggccagtacctcatggattAgaagatttgctgaaccctat																										TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr3:178928078_178928080delAGA	uc003fjk.3	+	7	1513_1515	c.1356_1358delAGA	c.(1354-1359)ttagaa>tta	p.E453del		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	453	C2 PI3K-type.		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E453K(20)|p.E453Q(8)|p.E453A(2)|p.P449_L455del(2)|p.G451_L456>V(2)|p.H450fs*9(1)|p.E453del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CTCATGGATTAGAAGATTTGCTG	0.35		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			8	102	---	---	---	---						-	178928080	AGA	-	178928078	7	5	174	1	0	1	0	1	0	0	0	0	11913	417	15	0	1382	0	PIK3CA	3	178928078	In_Frame_Del	DEL	AGA	TCGA-HT-7481-01A-11D-2024-08	10600	178928078	19094352	8	7667											
PIK3CA	5290	broad.mit.edu	37	chr3	178952072	178952072	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggagtatttcatgaaacaaAtgaatgatgcacatcatggt	15	12	9	5	0	2	3	2	3	0	0	2	4	2	4	0	2	2	2	0	2	4	2			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr3:178952072A>G	uc003fjk.3	+	20	3284	c.3127A>G	c.(3127-3129)Atg>Gtg	p.M1043V		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	1043	PI3K/PI4K.		M -> I (in cancer; shows an increase in lipid kinase activity).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1043I(62)|p.M1043V(43)|p.M1043T(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CATGAAACAAATGAATGATGC	0.368		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			7	97					0	0	1	0	0	G	178952072	A	G	178952072	3	3	174	1	0	0	0	0	1	0	0	0	11913	101	4	3	3205	3	PIK3CA	3	178952072	Missense_Mutation	SNP	A	TCGA-HT-7481-01A-11D-2024-08	23994	178952072	19070358	9	7668											
LMLN	89782	broad.mit.edu	37	chr3	197751579	197751579	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggacctcattccgtttgtCtaattcagaaatcagcattc	11	14	6	10	1	4	1	3	0	1	1	6	2	5	2	2	1	1	2	2	1	2	5			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr3:197751579C>G	uc010iar.3	+	14	1709	c.1687C>G	c.(1687-1689)Cta>Gta	p.L563V	LMLN_uc003fyt.3_Missense_Mutation_p.L511V|LMLN_uc011buo.2_Missense_Mutation_p.L526V|LMLN_uc010ias.3_Missense_Mutation_p.L474V|LMLN_uc003fyu.3_Missense_Mutation_p.L323V	NM_001136049	NP_001129521	Q96KR4	LMLN_HUMAN	Homo sapiens leishmanolysin-like (metallopeptidase M8 family) (LMLN), transcript variant 1, mRNA.	526					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TTCCGTTTGTCTAATTCAGAA	0.393													12	91					0	0	1	0	0	G	197751579	C	G	197751579	3	3	174	1	0	0	0	0	1	0	0	0	8847	912	32	5	1745	5	LMLN	3	197751579	Missense_Mutation	SNP	C	TCGA-HT-7481-01A-11D-2024-08	18799507	197751579	270851	10	7669											
CPEB2	132864	broad.mit.edu	37	chr4	15060817	15060817	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattttcttcataggttcaaAtacgtccttggaatttaagt	12	17	6	6	1	3	0	2	0	1	0	4	1	4	1	1	2	1	1	1	2	6	9			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr4:15060817A>T	uc003gnk.2	+	9	2587	c.2587A>T	c.(2587-2589)Ata>Tta	p.I863L	CPEB2_uc003gnl.2_Missense_Mutation_p.I836L|CPEB2_uc003gnm.2_Missense_Mutation_p.I833L|CPEB2_uc003gni.2_Missense_Mutation_p.I855L|CPEB2_uc003gnn.2_Missense_Mutation_p.I828L|CPEB2_uc003gnj.2_Missense_Mutation_p.I825L	NM_001177382	NP_001170853	Q7Z5Q1	CPEB2_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 2 (CPEB2), transcript variant D, mRNA.	418					regulation of translation	cytoplasm	RNA binding|nucleotide binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						ATAGGTTCAAATACGTCCTTG	0.348													5	59					0	0	1	0	0	T	15060817	A	T	15060817	3	4	174	1	0	0	0	0	1	0	0	0	3801	101	4	5	2634	5	CPEB2	4	15060817	Missense_Mutation	SNP	A	TCGA-HT-7481-01A-11D-2024-08		15060817	176093459	11	7670											
UGT2B28	54490	broad.mit.edu	37	chr4	70155435	70155435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccttaggtctcaatactcGgctgtataagtggatacccc	9	12	9	11	1	1	0	1	0	1	0	3	1	1	1	3	3	3	2	3	3	6	5			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr4:70155435G>A	uc003hej.3	+	3	1057	c.1055G>A	c.(1054-1056)cGg>cAg	p.R352Q	UGT2B28_uc010ihr.3_Intron	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	352					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.T351N(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	CTCAATACTCGGCTGTATAAG	0.363													30	36					0	0	1	0	0	A	70155435	G	A	70155435	3	1	174	1	0	0	0	0	1	0	0	0	16957	1116	39	2	1069	2	UGT2B28	4	70155435	Missense_Mutation	SNP	G	TCGA-HT-7481-01A-11D-2024-08	55094618	70155435	120998841	12	7671											
GK2	2712	broad.mit.edu	37	chr4	80328636	80328636	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctccagttttaattaggccaTagatctcagaagaactgaag	14	11	8	8	0	1	4	1	1	1	3	3	4	2	4	2	1	1	1	2	1	6	4			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr4:80328636T>C	uc003hlu.3	-	0	737	c.719A>G	c.(718-720)tAt>tGt	p.Y240C		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	240					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AATTAGGCCATAGATCTCAGA	0.423													37	98					0	0	1	0	0	C	80328636	T	C	80328636	3	2	174	1	0	0	0	0	1	0	0	0	6421	1406	49	3	946	3	GK2	4	80328636	Missense_Mutation	SNP	T	TCGA-HT-7481-01A-11D-2024-08	10173201	80328636	110825640	13	7672											
NUP155	9631	broad.mit.edu	37	chr5	37309323	37309323	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttaacattctttcttttTcagtcttattttgaacttgt	7	22	3	9	0	4	1	1	1	3	0	4	1	4	1	1	0	2	0	1	0	3	9			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr5:37309323T>C	uc003jku.1	-	23	2793	c.2675A>G	c.(2674-2676)gAa>gGa	p.E892G	NUP155_uc003jkt.1_Missense_Mutation_p.E833G|NUP155_uc010iuz.1_Missense_Mutation_p.E828G	NM_153485	NP_004289	O75694	NU155_HUMAN	Homo sapiens nucleoporin 155kDa (NUP155), transcript variant 1, mRNA.	892					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTTTCTTTTTCAGTCTTATT	0.343													9	23					0	0	1	0	0	C	37309323	T	C	37309323	3	2	174	1	0	0	0	0	1	0	0	0	10756	1783	62	3	1548	3	NUP155	5	37309323	Missense_Mutation	SNP	T	TCGA-HT-7481-01A-11D-2024-08		37309323	143605937	14	7673											
PIK3R1	5295	broad.mit.edu	37	chr5	67589147	67589149	+	In_Frame_Del	DEL	AAA	AAA	-																															acaggaaagggggaaataacAaattaatcaaaatatttcat																										TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr5:67589147_67589149delAAA	uc003jva.3	+	9	1715_1717	c.1135_1137delAAA	c.(1135-1137)aaadel	p.K379del	PIK3R1_uc003jvc.3_In_Frame_Del_p.K79del|PIK3R1_uc003jvd.3_In_Frame_Del_p.K109del|PIK3R1_uc003jve.3_In_Frame_Del_p.K58del|PIK3R1_uc021xzn.1_In_Frame_Del_p.K16del|PIK3R1_uc011crb.2_In_Frame_Del_p.K49del	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	379	SH2 1.				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GGGAAATAACAAATTAATCAAAA	0.31			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			11	69	---	---	---	---						-	67589149	AAA	-	67589147	7	5	174	1	0	1	0	1	0	0	0	0	11918	131	5	0	1299	0	PIK3R1	5	67589147	In_Frame_Del	DEL	AAA	TCGA-HT-7481-01A-11D-2024-08	30279824	67589147	113326113	15	7674											
RREB1	6239	broad.mit.edu	37	chr6	7231010	7231010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagcccgccagtagctttgCggtggacttcaatgagcccc	7	8	13	13	2	1	1	1	1	0	0	1	3	1	3	4	3	4	2	4	3	2	3			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:7231010C>T	uc003mxb.3	+	9	3170	c.2678C>T	c.(2677-2679)gCg>gTg	p.A893V	RREB1_uc021yky.1_Missense_Mutation_p.A893V|RREB1_uc003mxc.3_Missense_Mutation_p.A893V|RREB1_uc010jnx.3_Missense_Mutation_p.A893V|RREB1_uc021ykz.1_Missense_Mutation_p.A893V|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	893					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	p.A893V(2)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGTAGCTTTGCGGTGGACTTC	0.592													5	63					0	0	1	0	0	T	7231010	C	T	7231010	3	4	174	1	0	0	0	0	1	0	0	0	13679	768	27	1	2704	1	RREB1	6	7231010	Missense_Mutation	SNP	C	TCGA-HT-7481-01A-11D-2024-08		7231010	163884057	16	7675											
HIST1H2BF	8343	broad.mit.edu	37	chr6	26199854	26199856	+	In_Frame_Del	DEL	AGA	AGA	-																															aaaggcggtgaccaaggcgcAgaagaaggatggtaagaagc																								rs150784470		TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:26199854_26199856delAGA	uc003ngx.3	+	0	68_70	c.68_70delAGA	c.(67-72)cagaag>cag	p.K25del	HIST1H3D_uc003ngv.3_5'Flank|HIST1H3D_uc021ymt.1_5'Flank|HIST1H2AD_uc003ngw.3_5'Flank	NM_003522	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2bf (HIST1H2BF), mRNA.	25					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				ACCAAGGCGCAGAAGAAGGATGG	0.522													61	132	---	---	---	---						-	26199856	AGA	-	26199854	7	5	174	1	0	1	0	1	0	0	0	0	7145	188	7	0	70	0	HIST1H2BF	6	26199854	In_Frame_Del	DEL	AGA	TCGA-HT-7481-01A-11D-2024-08	18968844	26199854	144915213	17	7676											
KIF6	221458	broad.mit.edu	37	chr6	39513390	39513390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaacagtgatgaactttaCgcatatccgcgccaacctct	13	9	7	12	3	1	2	0	2	1	0	2	3	2	2	3	0	4	1	3	0	6	3			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:39513390C>T	uc003oot.2	-	10	1351	c.1256G>A	c.(1255-1257)cGt>cAt	p.R419H	KIF6_uc010jxa.1_Missense_Mutation_p.R210H|KIF6_uc011dua.1_Missense_Mutation_p.R419H|KIF6_uc010jxb.1_Missense_Mutation_p.R419H	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	419					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ATGAACTTTACGCATATCCGC	0.358													27	65					0	0	1	0	0	T	39513390	C	T	39513390	3	4	174	1	0	0	0	0	1	0	0	0	8308	536	19	1	1240	1	KIF6	6	39513390	Missense_Mutation	SNP	C	TCGA-HT-7481-01A-11D-2024-08	13313536	39513390	131601677	18	7677											
DLK2	65989	broad.mit.edu	37	chr6	43418774	43418774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcccctctctggcatgggcGgctggcacagtcatccaggt	5	8	14	14	1	2	0	1	0	1	0	4	0	3	0	3	6	0	3	3	6	0	0			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:43418774G>A	uc003ova.3	-	5	864	c.655C>T	c.(655-657)Cgc>Tgc	p.R219C	DLK2_uc003ovb.3_Missense_Mutation_p.R219C	NM_023932	NP_996262	Q6UY11	DLK2_HUMAN	Homo sapiens delta-like 2 homolog (Drosophila) (DLK2), transcript variant 1, mRNA.	219	EGF-like 6; calcium-binding (Potential).					integral to membrane	calcium ion binding	p.R219H(1)|p.S218N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TGGCATGGGCGGCTGGCACAG	0.622													5	67					0	0	1	0	0	A	43418774	G	A	43418774	3	1	174	1	0	0	0	0	1	0	0	0	4565	1116	39	2	500	2	DLK2	6	43418774	Missense_Mutation	SNP	G	TCGA-HT-7481-01A-11D-2024-08	3905384	43418774	127696293	19	7678											
BACH2	60468	broad.mit.edu	37	chr6	90660233	90660235	+	In_Frame_Del	DEL	TCC	TCC	-																															agggtgagcccccgctcccgTcctccgcgtaggaataggaa																										TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:90660233_90660235delTCC	uc011eab.2	-	6	2464_2466	c.1590_1592delGGA	c.(1588-1593)gaggac>gac	p.E530del	BACH2_uc003pnw.3_In_Frame_Del_p.E530del|BACH2_uc010kch.3_In_Frame_Del_p.E530del	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	530						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CCCGCTCCCGTCCTCCGCGTAGG	0.616													19	63	---	---	---	---						-	90660235	TCC	-	90660233	7	5	174	1	0	1	0	1	0	0	0	0	1284	1667	58	0	945	0	BACH2	6	90660233	In_Frame_Del	DEL	TCC	TCGA-HT-7481-01A-11D-2024-08	47241459	90660233	80454834	20	7679											
FRK	2444	broad.mit.edu	37	chr6	116265543	116265543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagaggcaacctgtgccGccatgtctacctgttgagtc	7	11	10	13	1	1	2	0	1	1	1	3	2	2	2	5	1	3	2	5	1	2	3			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:116265543G>A	uc003pwi.1	-	5	1451	c.1004C>T	c.(1003-1005)gCg>gTg	p.A335V		NM_002031	NP_002022	P42685	FRK_HUMAN	Homo sapiens fyn-related kinase (FRK), mRNA.	335	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		AACCTGTGCCGCCATGTCTAC	0.418													4	65					0	0	1	0	0	A	116265543	G	A	116265543	3	1	174	1	0	0	0	0	1	0	0	0	6048	1087	38	1	525	1	FRK	6	116265543	Missense_Mutation	SNP	G	TCGA-HT-7481-01A-11D-2024-08	25605310	116265543	54849524	21	7680											
MAP3K4	4216	broad.mit.edu	37	chr6	161470895	161470895	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctatttatagaccatttgtaGacaaagcactgaagcagatg	15	11	8	7	0	0	4	0	1	0	3	0	4	0	4	1	0	2	3	1	0	6	6			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:161470895G>C	uc003qtn.3	+	2	1733	c.1591G>C	c.(1591-1593)Gac>Cac	p.D531H	MAP3K4_uc010kkc.1_Missense_Mutation_p.D531H|MAP3K4_uc003qto.3_Missense_Mutation_p.D531H|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	531					JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ACCATTTGTAGACAAAGCACT	0.423													13	94					0	0	1	0	0	C	161470895	G	C	161470895	3	2	174	1	0	0	0	0	1	0	0	0	9252	942	33	5	1601	5	MAP3K4	6	161470895	Missense_Mutation	SNP	G	TCGA-HT-7481-01A-11D-2024-08	45205352	161470895	9644172	22	7681											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37734856	37734856	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcgaccgaaggtgtcgtGctagggatgatggcggaggc	7	8	18	8	4	0	1	0	1	0	0	2	5	0	3	1	5	1	1	1	5	2	1			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr8:37734856G>A	uc003xkm.2	-	1	641	c.585C>T	c.(583-585)agC>agT	p.S195S	RAB11FIP1_uc003xkn.2_Silent_p.S195S|RAB11FIP1_uc003xkp.1_Silent_p.S43S	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	195					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AAGGTGTCGTGCTAGGGATGA	0.448													13	163					0	0	1	0	0	A	37734856	G	A	37734856	2	1	174	1	0	0	0	0	0	0	0	1	12893	1310	46	3		3	RAB11FIP1	8	37734856	Silent	SNP	G	TCGA-HT-7481-01A-11D-2024-08		37734856	108629166	23	7682											
NOTCH1	4851	broad.mit.edu	37	chr9	139413067	139413069	+	In_Frame_Del	DEL	AGT	AGT	-																															gcggccatggggacactcgcAgtagaaggaggccacacggt																										TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr9:139413067_139413069delAGT	uc004chz.3	-	5	1073_1075	c.1073_1075delACT	c.(1072-1077)tactgc>tgc	p.Y358del		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	358	EGF-like 9; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.F357delF(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGACACTCGCAGTAGAAGGAGGC	0.655			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			7	29	---	---	---	---						-	139413069	AGT	-	139413067	7	5	174	1	0	1	0	1	0	0	0	0	10547	188	7	0	6708	0	NOTCH1	9	139413067	In_Frame_Del	DEL	AGT	TCGA-HT-7481-01A-11D-2024-08		139413067	1800364	24	7683											
CD163	9332	broad.mit.edu	37	chr12	7635248	7635248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggctcaaacctgcaagccGctgtctctgtcttcgctttt	5	15	8	13	2	3	0	1	0	2	0	5	0	3	0	2	1	3	4	2	1	2	4			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr12:7635248G>A	uc001qsz.3	-	13	3366	c.3238C>T	c.(3238-3240)Cgg>Tgg	p.R1080W	CD163_uc001qta.3_Missense_Mutation_p.R1080W|CD163_uc009zfw.2_Missense_Mutation_p.R1113W	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	1080					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						CCTGCAAGCCGCTGTCTCTGT	0.428													52	113					0	0	1	0	0	A	7635248	G	A	7635248	3	1	174	1	0	0	0	0	1	0	0	0	2967	1086	38	1	244	1	CD163	12	7635248	Missense_Mutation	SNP	G	TCGA-HT-7481-01A-11D-2024-08		7635248	126216647	25	7684											
KERA	11081	broad.mit.edu	37	chr12	91449544	91449544	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaatttgttgttctgtaggTcaagaagggtcaggttctcc	8	15	11	7	0	4	1	2	0	2	1	5	1	4	1	1	3	0	4	1	3	4	6			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr12:91449544T>C	uc001tbl.3	-	1	1134	c.515A>G	c.(514-516)gAc>gGc	p.D172G		NM_007035	NP_008966	O60938	KERA_HUMAN	Homo sapiens keratocan (KERA), mRNA.	172					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GTTCTGTAGGTCAAGAAGGGT	0.413													49	149					0	0	1	0	0	C	91449544	T	C	91449544	3	2	174	1	0	0	0	0	1	0	0	0	8143	1667	58	3	551	3	KERA	12	91449544	Missense_Mutation	SNP	T	TCGA-HT-7481-01A-11D-2024-08	83814296	91449544	42402351	26	7685											
FSCB	84075	broad.mit.edu	37	chr14	44975038	44975038	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttgtgctgagggagaccGaatttcaccaagaagctcta	11	11	10	9	1	2	3	1	1	1	2	2	5	2	3	2	1	2	2	2	1	4	4			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr14:44975038G>T	uc001wvn.3	-	0	1462	c.1153C>A	c.(1153-1155)Cgg>Agg	p.R385R		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	385	Pro-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)		GAGGGAGACCGAATTTCACCA	0.532													12	137					0.00010058	0.000111057	1	1	0	T	44975038	G	T	44975038	2	4	174	1	0	0	0	0	0	0	0	1	6066	1057	37	5		5	FSCB	14	44975038	Silent	SNP	G	TCGA-HT-7481-01A-11D-2024-08		44975038	62374502	27	7686											
NETO1	81832	broad.mit.edu	37	chr18	70417415	70417415	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgtgtttcatgacaaggaTatttcttctgttcatgggtg	7	17	11	6	0	4	1	2	1	2	0	4	2	4	2	0	2	0	3	0	2	2	5			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr18:70417415T>C	uc002lkw.3	-	8	1707	c.1423A>G	c.(1423-1425)Atc>Gtc	p.I475V	NETO1_uc002lky.2_Missense_Mutation_p.I475V	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	475					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	p.N474I(1)		NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ATGACAAGGATATTTCTTCTG	0.507													13	45					0	0	1	0	0	C	70417415	T	C	70417415	3	2	174	1	0	0	0	0	1	0	0	0	10339	1406	49	3	186	3	NETO1	18	70417415	Missense_Mutation	SNP	T	TCGA-HT-7481-01A-11D-2024-08		70417415	7659833	28	7687											
NLRP2	55655	broad.mit.edu	37	chr19	55494669	55494669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacctgggacattggggacGtacagaagctgctttccgga	10	8	13	10	2	0	1	0	0	0	1	1	4	1	4	2	4	3	3	2	4	2	3			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr19:55494669G>A	uc021vbq.1	+	5	1714	c.1603G>A	c.(1603-1605)Gta>Ata	p.V535I	NLRP2_uc010yfp.2_Missense_Mutation_p.V512I|NLRP2_uc002qij.3_Missense_Mutation_p.V535I|NLRP2_uc010esp.3_Missense_Mutation_p.V513I|NLRP2_uc010esn.3_Missense_Mutation_p.V511I|NLRP2_uc010eso.3_Missense_Mutation_p.V532I	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	535					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	p.V535I(1)|p.D534D(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CATTGGGGACGTACAGAAGCT	0.557													4	48					0	0	1	0	0	A	55494669	G	A	55494669	3	1	174	1	0	0	0	0	1	0	0	0	10477	1145	40	1	1621	1	NLRP2	19	55494669	Missense_Mutation	SNP	G	TCGA-HT-7481-01A-11D-2024-08		55494669	3634314	29	7688											
FLRT3	23767	broad.mit.edu	37	chr20	14306271	14306271	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggttactactgctttcacTgtgattgtttttgtacagat	7	19	8	7	1	1	2	1	1	0	1	2	2	1	2	0	1	4	4	0	1	3	7			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr20:14306271T>C	uc021war.1	-	0	1882	c.1882A>G	c.(1882-1884)Agt>Ggt	p.S628G	MACROD2_uc002wot.3_Intron|MACROD2_uc002wou.3_Intron|FLRT3_uc002wov.2_Missense_Mutation_p.S628G|FLRT3_uc002wow.2_Missense_Mutation_p.S628G	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 3 (FLRT3), transcript variant 2, mRNA.	628					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CTGCTTTCACTGTGATTGTTT	0.413													18	135					0	0	1	0	0	C	14306271	T	C	14306271	3	2	174	1	0	0	0	0	1	0	0	0	5940	1580	55	4	71	4	FLRT3	20	14306271	Missense_Mutation	SNP	T	TCGA-HT-7481-01A-11D-2024-08		14306271	48719249	30	7689											
WISP2	8839	broad.mit.edu	37	chr20	43348625	43348625	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccctggtgctggatggcTgtggctgctgccgggtatgt	3	12	16	10	1	0	0	0	0	0	0	0	1	0	1	3	5	4	5	3	5	2	2			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr20:43348625T>G	uc002xmp.3	+	1	295	c.148T>G	c.(148-150)Tgt>Ggt	p.C50G	LOC79015_uc002xml.1_Intron|WISP2_uc002xmo.1_Missense_Mutation_p.C50G|WISP2_uc002xmq.3_Missense_Mutation_p.C50G	NM_003881	NP_003872	O76076	WISP2_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 2 (WISP2), mRNA.	50	IGFBP N-terminal.				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				GCTGGATGGCTGTGGCTGCTG	0.697													5	15					0	0	1	0	0	G	43348625	T	G	43348625	3	3	174	1	0	0	0	0	1	0	0	0	17370	1580	55	5	154	5	WISP2	20	43348625	Missense_Mutation	SNP	T	TCGA-HT-7481-01A-11D-2024-08	29042354	43348625	19676895	31	7690											
TSHZ2	128553	broad.mit.edu	37	chr20	51873020	51873020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacatttgtgagcaaacatgCggtaaaactccacctaagca	15	8	8	10	1	0	1	0	1	0	0	1	2	1	1	2	1	5	3	2	1	4	3			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr20:51873020C>T	uc002xwo.3	+	1	3910	c.3023C>T	c.(3022-3024)gCg>gTg	p.A1008V	TSHZ2_uc021wex.1_Missense_Mutation_p.A1005V	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	1008					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGCAAACATGCGGTAAAACTC	0.468													19	59					0	0	1	0	0	T	51873020	C	T	51873020	3	4	174	1	0	0	0	0	1	0	0	0	16621	768	27	1	3029	1	TSHZ2	20	51873020	Missense_Mutation	SNP	C	TCGA-HT-7481-01A-11D-2024-08	8524395	51873020	11152500	32	7691											
GAGE2B	645037	broad.mit.edu	37	chrX	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT																															gttggcgaggaagatcgaccINStatcggcctagaccaagacg																										TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chrX:49208295_49208296insTAT	uc004dnv.4	+	1	140_141	c.24_25insTAT	c.(22-27)insTAT	p.9_10insY	GAGE2B_uc004dnl.4_Intron|GAGE2B_uc022bwc.1_Intron|GAGE2B_uc011mne.2_Intron|GAGE2B_uc004dnn.4_Intron|GAGE2B_uc011mnf.2_Intron|GAGE2B_uc004dnq.4_Intron|GAGE2B_uc004dnr.4_Intron|GAGE2B_uc004dnk.4_Intron|GAGE2B_uc004dno.4_Intron|GAGE2B_uc004dnp.4_Intron|GAGE2B_uc010njc.3_In_Frame_Ins_p.9_10insY|GAGE2B_uc004dnt.4_In_Frame_Ins_p.9_10insY|GAGE2B_uc004dnu.4_In_Frame_Ins_p.9_10insY	NM_001127212	NP_001091881			Homo sapiens G antigen 2A (GAGE2A), mRNA.																		GAAGATCGACCTATCGGCCTAG	0.465													4	7	---	---	---	---						TAT	49208296	-	TAT	49208295	7	5	174	1	0	1	1	0	0	0	0	0	6191	668	24	0		0	GAGE2B	23	49208295	In_Frame_Ins	INS	-	TCGA-HT-7481-01A-11D-2024-08		49208295	106062265	33	7692											
KIAA1210	57481	broad.mit.edu	37	chrX	118222475	118222475	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catctggaaggcagctgctgCataaaatcattctgctcttc	10	12	8	11	0	4	0	1	0	3	0	5	1	4	1	0	2	4	5	0	2	3	3			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chrX:118222475C>A	uc004era.4	-	10	2718	c.2718G>T	c.(2716-2718)atG>atT	p.M906I		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	906										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GCAGCTGCTGCATAAAATCAT	0.483													3	23					1	1	1	1	0	A	118222475	C	A	118222475	3	1	174	1	0	0	0	0	1	0	0	0	8214	710	25	5	2427	5	KIAA1210	23	118222475	Missense_Mutation	SNP	C	TCGA-HT-7481-01A-11D-2024-08	69014180	118222475	37048085	34	7693											
LOC649330	649330	broad.mit.edu	37	chr1	12908011	12908011	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttatgaacagagcagccCgcaattttgccatacttgga	11	10	8	12	1	0	2	0	1	0	1	0	3	0	3	3	1	5	2	3	1	4	5			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr1:12908011C>T	uc010obf.2	-	1	358	c.132G>A	c.(130-132)gcG>gcA	p.A44A	LOC649330_uc009vno.2_Silent_p.A44A	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	44							nucleic acid binding|nucleotide binding	p.A44A(1)									CAGAGCAGCCCGCAATTTTGC	0.478													15	130					0	0	0.500413	0	0	T	12908011	C	T	12908011	2	4	175	1	0	0	0	0	0	0	0	1	8885	639	23	2		2	LOC649330	1	12908011	Silent	SNP	C	TCGA-HT-7482-01A-11D-2024-08		12908011	236342610	1	7694											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr2:209113113G>C	uc002vcs.3	-	3	640	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_uc002vct.3_Missense_Mutation_p.R132G|IDH1_uc002vcu.3_Missense_Mutation_p.R132G	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								17	41					0	0	0.539581	0	0	C	209113113	G	C	209113113	3	2	175	1	0	0	0	0	1	0	0	0	7494	1058	37	5	878	5	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-7482-01A-11D-2024-08		209113113	34086260	2	7695											
DPPA4	55211	broad.mit.edu	37	chr3	109049418	109049418	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctctggtgtcctcgccctgGctgaaattctcgcccaggag	5	10	11	15	2	2	1	0	1	2	0	5	2	3	2	4	3	0	1	4	3	1	1			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr3:109049418G>C	uc003dxq.4	-	4	687	c.632C>G	c.(631-633)gCc>gGc	p.A211G	DPPA4_uc011bho.2_Intron|DPPA4_uc011bhp.1_Missense_Mutation_p.A211G	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.	211						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CCTCGCCCTGGCTGAAATTCT	0.522													5	53					0	0	0.184627	0	0	C	109049418	G	C	109049418	3	2	175	1	0	0	0	0	1	0	0	0	4736	1203	42	5	294	5	DPPA4	3	109049418	Missense_Mutation	SNP	G	TCGA-HT-7482-01A-11D-2024-08		109049418	88973012	3	7696											
PLXNA1	5361	broad.mit.edu	37	chr3	126732904	126732904	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcagcgacctgccagtgaaCctgtcagtcgtgtggaacgg	8	8	14	11	3	2	1	2	1	0	0	3	3	2	2	3	2	4	0	3	2	2	0			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr3:126732904C>G	uc003ejg.3	+	9	2355	c.2355C>G	c.(2353-2355)aaC>aaG	p.N785K		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	785					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGCCAGTGAACCTGTCAGTCG	0.632													24	101					0	0	0.693898	0	0	G	126732904	C	G	126732904	3	3	175	1	0	0	0	0	1	0	0	0	12119	506	18	5	2393	5	PLXNA1	3	126732904	Missense_Mutation	SNP	C	TCGA-HT-7482-01A-11D-2024-08	17683486	126732904	71289526	4	7697											
KHDRBS2	202559	broad.mit.edu	37	chr6	62611243	62611243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttaagtaagataattcacGtagttgttcctgacgaattt	13	16	7	5	2	1	2	1	1	0	1	2	3	2	2	1	0	0	4	1	0	5	9			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr6:62611243G>A	uc003peg.2	-	4	764	c.517C>T	c.(517-519)Cgt>Tgt	p.R173C		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GATAATTCACGTAGTTGTTCC	0.418													17	24					0	0	0.557998	0	0	A	62611243	G	A	62611243	3	1	175	1	0	0	0	0	1	0	0	0	8147	1145	40	1	552	1	KHDRBS2	6	62611243	Missense_Mutation	SNP	G	TCGA-HT-7482-01A-11D-2024-08		62611243	108503824	5	7698											
SLC2A12	154091	broad.mit.edu	37	chr6	134350799	134350799	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agatgatcccaagttcataaCccaccaggaggccactgaca	14	6	8	13	0	1	3	1	2	0	1	2	4	2	4	4	2	1	1	4	2	2	2			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr6:134350799C>G	uc003qem.1	-	1	335	c.164G>C	c.(163-165)gGt>gCt	p.G55A		NM_145176	NP_660159	Q8TD20	GTR12_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 12 (SLC2A12), mRNA.	55						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		AAGTTCATAACCCACCAGGAG	0.517													6	32					0	0	0.217242	0	0	G	134350799	C	G	134350799	3	3	175	1	0	0	0	0	1	0	0	0	14541	507	18	5	1705	5	SLC2A12	6	134350799	Missense_Mutation	SNP	C	TCGA-HT-7482-01A-11D-2024-08	71739556	134350799	36764268	6	7699											
INTS1	26173	broad.mit.edu	37	chr7	1538970	1538970	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtctggctgtcctcctcctCcgtgagggaggggtgtgggc	2	10	17	12	2	1	1	0	1	1	0	5	2	5	2	4	5	0	1	4	5	0	0			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr7:1538970C>A	uc003skn.2	-	6	972	c.871G>T	c.(871-873)Gag>Tag	p.E291*	INTS1_uc003skq.2_Nonsense_Mutation_p.E291*	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	291					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TCCTCCTCCTCCGTGAGGGAG	0.697													5	88					3.59834e-05	4.36941e-05	0.217242	1	0	A	1538970	C	A	1538970	4	1	175	1	0	0	0	0	0	1	0	0	7775	864	30	5	5869	5	INTS1	7	1538970	Nonsense_Mutation	SNP	C	TCGA-HT-7482-01A-11D-2024-08		1538970	157599693	7	7700											
VPS41	27072	broad.mit.edu	37	chr7	38796519	38796519	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggatcaactgaaaaacGtctttatgtcttaatgttaa	13	16	7	5	1	3	1	1	1	2	0	3	2	3	2	0	1	2	1	0	1	6	5	rs146405914		TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr7:38796519G>A	uc003tgy.3	-	18	1640	c.1614C>T	c.(1612-1614)gaC>gaT	p.D538D	VPS41_uc003tgz.3_Silent_p.D513D|VPS41_uc010kxn.3_Silent_p.D449D	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.	538					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	Golgi-associated vesicle|HOPS complex|cytosol|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						ACTGAAAAACGTCTTTATGTC	0.284													9	20					0	0	0.335167	0	0	A	38796519	G	A	38796519	2	1	175	1	0	0	0	0	0	0	0	1	17207	1136	40	1		1	VPS41	7	38796519	Silent	SNP	G	TCGA-HT-7482-01A-11D-2024-08	37257549	38796519	120342144	8	7701											
MET	4233	broad.mit.edu	37	chr7	116381017	116381017	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgccacgacaaatgtgtgCgatcggaggaatgcctgagc	10	7	15	9	3	0	1	0	1	0	0	1	5	0	3	2	3	4	0	2	3	2	0			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr7:116381017C>T	uc003vij.3	+	4	1826	c.1639C>T	c.(1639-1641)Cga>Tga	p.R547*	MET_uc022akk.1_Nonsense_Mutation_p.R547*|MET_uc010lkh.3_Nonsense_Mutation_p.R547*|MET_uc011knc.1_Nonsense_Mutation_p.R547*|MET_uc011knd.2_Nonsense_Mutation_p.R547*|MET_uc011knf.2_Nonsense_Mutation_p.R547*|MET_uc011kne.2_Nonsense_Mutation_p.R519*|MET_uc011kng.1_Nonsense_Mutation_p.R547*|MET_uc011knh.1_Nonsense_Mutation_p.R547*|MET_uc011kni.2_Nonsense_Mutation_p.R547*|MET_uc011knj.2_Nonsense_Mutation_p.R117*|MET_uc011knb.1_Nonsense_Mutation_p.R547*	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	547					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CAAATGTGTGCGATCGGAGGA	0.512			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				20	78					0	0	0.608945	0	0	T	116381017	C	T	116381017	4	4	175	1	0	0	0	0	0	1	0	0	9485	760	27	1	1653	1	MET	7	116381017	Nonsense_Mutation	SNP	C	TCGA-HT-7482-01A-11D-2024-08	77584498	116381017	42757646	9	7702											
AKR1B15	441282	broad.mit.edu	37	chr7	134256364	134256364	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtatttacagactggggaTgactttttccccaaagatga	11	13	9	8	0	0	4	0	2	0	2	1	5	1	5	2	2	1	1	2	2	3	5			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr7:134256364T>A	uc011kpr.2	+	5	743	c.444T>A	c.(442-444)gaT>gaA	p.D148E		NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN	Homo sapiens aldo-keto reductase family 1, member B15 (AKR1B15), mRNA.	148							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						AGACTGGGGATGACTTTTTCC	0.423													13	61					0	0	0.411799	0	0	A	134256364	T	A	134256364	3	1	175	1	0	0	0	0	1	0	0	0	468	1461	51	5	458	5	AKR1B15	7	134256364	Missense_Mutation	SNP	T	TCGA-HT-7482-01A-11D-2024-08	17875347	134256364	24882299	10	7703											
PRDM14	63978	broad.mit.edu	37	chr8	70981760	70981760	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgctgctcaggaagggCggcacttccctggggacgtg	5	8	17	11	2	1	0	1	0	0	0	2	2	2	2	1	6	2	4	1	6	1	1			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr8:70981760C>T	uc003xym.3	-	1	538	c.336G>A	c.(334-336)ccG>ccA	p.P112P		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TCAGGAAGGGCGGCACTTCCC	0.632													8	19					0	0	0.27861	0	0	T	70981760	C	T	70981760	2	4	175	1	0	0	0	0	0	0	0	1	12455	755	27	1		1	PRDM14	8	70981760	Silent	SNP	C	TCGA-HT-7482-01A-11D-2024-08		70981760	75382262	11	7704											
KIAA1462	57608	broad.mit.edu	37	chr10	30316584	30316584	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaactttctaactgactgatCaaatcccagggacgacggct	13	9	8	11	2	2	2	1	2	1	0	3	4	3	3	1	2	2	1	1	2	3	2			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr10:30316584C>G	uc009xle.2	-	2	2630	c.2493G>C	c.(2491-2493)ttG>ttC	p.L831F	KIAA1462_uc001iux.3_Missense_Mutation_p.L831F|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.L693F	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	831										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACTGACTGATCAAATCCCAGG	0.557													14	93					0	0	0.479597	0	0	G	30316584	C	G	30316584	3	3	175	1	0	0	0	0	1	0	0	0	8234	825	29	5	1594	5	KIAA1462	10	30316584	Missense_Mutation	SNP	C	TCGA-HT-7482-01A-11D-2024-08		30316584	105218163	12	7705											
MUC5B	727897	broad.mit.edu	37	chr11	1161875	1161875	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accagatctacacccagctgCccatctctgcaggtgagggc	9	7	10	15	0	2	2	0	1	2	1	3	2	2	2	3	2	4	2	3	2	1	1			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr11:1161875C>G	uc021qbr.1	+	12	1602	c.1555C>G	c.(1555-1557)Ccc>Gcc	p.P519A				Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	510	VWFD 2.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACCCAGCTGCCCATCTCTGC	0.642													3	17					0	0	0.115264	0	0	G	1161875	C	G	1161875	3	3	175	1	0	0	0	0	1	0	0	0	9979	754	26	5		5	MUC5B	11	1161875	Missense_Mutation	SNP	C	TCGA-HT-7482-01A-11D-2024-08		1161875	133844641	13	7706											
BRSK2	9024	broad.mit.edu	37	chr11	1477653	1477653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccacgggggggccagccGtgttccagaagccggtcaag	8	4	17	12	3	1	1	1	0	0	1	2	1	2	1	5	5	2	1	5	5	2	1			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr11:1477653G>A	uc001ltm.3	+	16	2135	c.1882G>A	c.(1882-1884)Gtg>Atg	p.V628M	BRSK2_uc009ycv.1_Missense_Mutation_p.V604M|BRSK2_uc001lth.1_Missense_Mutation_p.V582M|BRSK2_uc001lti.3_Missense_Mutation_p.V582M|BRSK2_uc001ltl.3_Missense_Mutation_p.V582M|BRSK2_uc001ltj.3_Missense_Mutation_p.V582M|BRSK2_uc001ltk.3_Non-coding_Transcript|BRSK2_uc001ltn.3_Non-coding_Transcript|BRSK2_uc010qwx.2_Non-coding_Transcript|BRSK2_uc009ycw.3_Missense_Mutation_p.V78M	NM_003957	NP_003948	Q8IWQ3	BRSK2_HUMAN	Homo sapiens BR serine/threonine kinase 2 (BRSK2), mRNA.	582					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GGGGCCAGCCGTGTTCCAGAA	0.612													9	11					0	0	0.307466	0	0	A	1477653	G	A	1477653	3	1	175	1	0	0	0	0	1	0	0	0	1524	1145	40	1	1810	1	BRSK2	11	1477653	Missense_Mutation	SNP	G	TCGA-HT-7482-01A-11D-2024-08	315778	1477653	133528863	14	7707											
SLC6A15	55117	broad.mit.edu	37	chr12	85255483	85255483	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccataccgtccattgggAgcagtatccagagttgggga	10	10	12	9	1	0	1	0	0	0	1	3	3	3	3	4	3	2	3	4	3	2	5			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr12:85255483A>G	uc001szv.3	-	11	2614	c.2121T>C	c.(2119-2121)gcT>gcC	p.A707A	SLC6A15_uc010sul.2_Silent_p.A600A	NM_182767	NP_001139807	Q9H2J7	S6A15_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 15 (SLC6A15), transcript variant 1, mRNA.	707					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						GTCCATTGGGAGCAGTATCCA	0.423													9	118					0	0	0.307466	0	0	G	85255483	A	G	85255483	2	3	175	1	0	0	0	0	0	0	0	1	14678	291	11	4		4	SLC6A15	12	85255483	Silent	SNP	A	TCGA-HT-7482-01A-11D-2024-08		85255483	48596412	15	7708											
SRL	6345	broad.mit.edu	37	chr16	4242361	4242361	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggaaatgggattgatgccGaagaagtccttataggcctc	11	10	12	8	1	0	2	0	1	0	1	2	5	1	4	3	3	1	0	3	3	5	3			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr16:4242361G>A	uc002cvz.4	-	5	1228	c.1215C>T	c.(1213-1215)ttC>ttT	p.F405F	SRL_uc002cvy.4_Non-coding_Transcript	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	Homo sapiens sarcalumenin (SRL), mRNA.	864	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						GATTGATGCCGAAGAAGTCCT	0.493													25	39					0	0	0.654019	0	0	A	4242361	G	A	4242361	2	1	175	1	0	0	0	0	0	0	0	1	15149	1049	37	2		2	SRL	16	4242361	Silent	SNP	G	TCGA-HT-7482-01A-11D-2024-08		4242361	86112392	16	7709											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			8	19					0	0	0.27861	0	0	A	7577121	G	A	7577121	3	1	175	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-7482-01A-11D-2024-08		7577121	73618089	17	7710											
TP53	7157	broad.mit.edu	37	chr17	7578475	7578475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcggacgcgggtgccgggcGggggtgtggaatcaacccac	6	4	19	12	6	1	0	1	0	0	0	1	2	1	2	2	6	2	0	2	6	2	0	rs137852790		TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr17:7578475G>A	uc002gim.2	-	4	649	c.455C>T	c.(454-456)cCg>cTg	p.P152L	TP53_uc002gig.1_Missense_Mutation_p.P152L|TP53_uc002gih.3_Missense_Mutation_p.P152L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.P20L|TP53_uc010cnf.1_Missense_Mutation_p.P20L|TP53_uc002gii.1_Missense_Mutation_p.P20L|TP53_uc010cni.1_Missense_Mutation_p.P152L|TP53_uc010cnh.1_Missense_Mutation_p.P152L|TP53_uc002gij.2_Missense_Mutation_p.P152L|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.P59L|TP53_uc002gio.2_Missense_Mutation_p.P20L|TP53_uc010vug.2_Missense_Mutation_p.P113L	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	152	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P152L(129)|p.P151S(66)|p.P151H(27)|p.P152fs*18(23)|p.P152S(22)|p.P152R(14)|p.P151T(14)|p.P151P(12)|p.P152fs*14(10)|p.P151A(9)|p.P152Q(8)|p.0?(8)|p.P152T(7)|p.P151L(7)|p.P151fs*30(7)|p.P151R(7)|p.T150fs*16(6)|p.P152fs*29(5)|p.P152P(5)|p.?(5)|p.P153fs*28(5)|p.P152fs*28(4)|p.P59L(2)|p.P151_V173del23(2)|p.P152_P153del(2)|p.P20L(2)|p.D148_T155delDSTPPPGT(2)|p.T150_P153delTPPP(2)|p.P152fs*27(2)|p.Q144_G154del11(2)|p.P152A(2)|p.P153fs*16(1)|p.P59R(1)|p.P20R(1)|p.T57fs*16(1)|p.P151del(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152_P153insXXX(1)|p.Q144fs*16(1)|p.T18fs*16(1)|p.T150_P151delTP(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)		GGTGCCGGGCGGGGGTGTGGA	0.612		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)			16	27					0	0	0.500413	0	0	A	7578475	G	A	7578475	3	1	175	1	0	0	0	0	1	0	0	0	16378	1116	39	2	843	2	TP53	17	7578475	Missense_Mutation	SNP	G	TCGA-HT-7482-01A-11D-2024-08	1354	7578475	73616735	18	7711											
CSNK2A1	1457	broad.mit.edu	37	chr20	464702	464702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaggtccaaggggtgaagggGttggcactgaagaaatccct	11	7	16	7	0	0	3	0	2	0	1	2	4	2	3	2	6	0	2	2	6	4	1	rs61747403		TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr20:464702G>A	uc002wdw.1	-	13	1472	c.1079C>T	c.(1078-1080)aCc>aTc	p.T360I	CSNK2A1_uc002wdx.1_Missense_Mutation_p.T360I|CSNK2A1_uc002wdy.1_Missense_Mutation_p.T224I	NM_177559	NP_808228	P68400	CSK21_HUMAN	Homo sapiens casein kinase 2, alpha 1 polypeptide (CSNK2A1), transcript variant 1, mRNA.	360					Wnt receptor signaling pathway|axon guidance	NuRD complex|Sin3 complex|cytosol|plasma membrane	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			GGGTGAAGGGGTTGGCACTGA	0.547													3	14					0	0	0.115264	0	0	A	464702	G	A	464702	3	1	175	1	0	0	0	0	1	0	0	0	3957	1261	44	3	100	3	CSNK2A1	20	464702	Missense_Mutation	SNP	G	TCGA-HT-7482-01A-11D-2024-08		464702	62560818	19	7712											
ATRX	546	broad.mit.edu	37	chrX	76849221	76849221	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaagagaagtaccatttTcccagaatgctctaaaacct	15	11	5	10	0	2	2	1	0	1	2	3	3	3	2	3	0	3	2	3	0	6	5			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chrX:76849221T>C	uc004ecp.4	-	25	6287	c.6055A>G	c.(6055-6057)Aaa>Gaa	p.K2019E	ATRX_uc004ecq.4_Missense_Mutation_p.K1981E|ATRX_uc004eco.4_Missense_Mutation_p.K1804E	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2019					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AGTACCATTTTCCCAGAATGC	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						19	52					0	0	0.608945	0	0	C	76849221	T	C	76849221	3	2	175	1	0	0	0	0	1	0	0	0	1208	1792	62	3	1463	3	ATRX	23	76849221	Missense_Mutation	SNP	T	TCGA-HT-7482-01A-11D-2024-08		76849221	78421339	20	7713											
RBM41	55285	broad.mit.edu	37	chrX	106310757	106310757	+	Nonstop_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccacaatttatatatattCtagctaccactaatttctgt	13	16	2	10	0	2	0	0	0	2	0	2	0	2	0	2	0	2	1	2	0	8	10			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chrX:106310757C>A	uc004emz.3	-	6	1296	c.1242G>T	c.(1240-1242)taG>taT	p.*414Y	RBM41_uc004emy.2_Intron	NM_018301	NP_060771	Q96IZ5	RBM41_HUMAN	Homo sapiens RNA binding motif protein 41 (RBM41), transcript variant 1, mRNA.	0							RNA binding|nucleotide binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						TATATATATTCTAGCTACCAC	0.378													41	143					9.85913e-13	1.24152e-12	0.847076	1	0	A	106310757	C	A	106310757	4	1	175	1	0	0	0	0	0	0	0	0	13135	924	32	5	12	5	RBM41	23	106310757	Nonstop_Mutation	SNP	C	TCGA-HT-7482-01A-11D-2024-08	29461536	106310757	48959803	21	7714											
HIVEP3	59269	broad.mit.edu	37	chr1	42049199	42049199	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtccgctgtcctattcGcccacacttgccaaagatga	8	9	10	14	3	0	2	0	1	0	1	3	2	2	2	4	2	1	1	4	2	2	3			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr1:42049199G>A	uc001cgz.4	-	3	2483	c.1270C>T	c.(1270-1272)Cga>Tga	p.R424*	HIVEP3_uc001cha.4_Nonsense_Mutation_p.R424*|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	424	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.R424*(2)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGTCCTATTCGCCCACACTTG	0.607													20	44					0	0	0.007413	0	0	A	42049199	G	A	42049199	4	1	176	1	0	0	0	0	0	1	0	0	7188	1095	38	1	5974	1	HIVEP3	1	42049199	Nonsense_Mutation	SNP	G	TCGA-HT-7483-01A-11D-2024-08		42049199	207201422	1	7715											
FLAD1	80308	broad.mit.edu	37	chr1	154965246	154965246	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctgtttgtcccatactgtAtcctgtatgaccgagggtaa	9	13	10	9	1	0	1	0	1	0	0	2	2	2	1	3	1	2	5	3	1	4	5			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr1:154965246A>G	uc001fgf.2	+	5	2013	c.1612A>G	c.(1612-1614)Atc>Gtc	p.I538V	FLAD1_uc001fge.2_Missense_Mutation_p.I441V|FLAD1_uc001fgg.2_Missense_Mutation_p.I441V|FLAD1_uc001fgh.1_Intron|LENEP_uc001fgi.3_5'Flank|LENEP_uc021pak.1_5'Flank	NM_025207	NP_958800	Q8NFF5	FAD1_HUMAN	Homo sapiens FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae) (FLAD1), transcript variant 1, mRNA.	538	FAD synthase.				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCCATACTGTATCCTGTATGA	0.502													38	58					0	0	0.00623	0	0	G	154965246	A	G	154965246	3	3	176	1	0	0	0	0	1	0	0	0	5920	449	16	3	1774	3	FLAD1	1	154965246	Missense_Mutation	SNP	A	TCGA-HT-7483-01A-11D-2024-08	112916047	154965246	94285375	2	7716											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr2:209113113G>C	uc002vcs.3	-	3	640	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_uc002vct.3_Missense_Mutation_p.R132G|IDH1_uc002vcu.3_Missense_Mutation_p.R132G	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								24	45					0	0	0.00333	0	0	C	209113113	G	C	209113113	3	2	176	1	0	0	0	0	1	0	0	0	7494	1058	37	5	878	5	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-7483-01A-11D-2024-08		209113113	34086260	3	7717											
KCNH8	131096	broad.mit.edu	37	chr3	19389439	19389439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccgtcagtgacattgcagtgGagattctttttattataggt	9	16	10	6	1	2	2	1	1	1	1	2	3	2	2	1	2	1	1	1	2	3	7			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr3:19389439G>A	uc003cbk.1	+	4	988	c.793G>A	c.(793-795)Gag>Aag	p.E265K	KCNH8_uc011awe.1_Missense_Mutation_p.E265K|KCNH8_uc010hex.1_5'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	265						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CATTGCAGTGGAGATTCTTTT	0.393													32	70					0	0	0.013726	0	0	A	19389439	G	A	19389439	3	1	176	1	0	0	0	0	1	0	0	0	8038	1175	41	3	811	3	KCNH8	3	19389439	Missense_Mutation	SNP	G	TCGA-HT-7483-01A-11D-2024-08		19389439	178632991	4	7718											
CASR	846	broad.mit.edu	37	chr3	122002611	122002611	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgcattgccaaggagatcGagtttctgtcgtggacggag	8	10	14	9	3	1	1	0	0	1	1	3	5	1	3	2	3	2	2	2	3	1	2	rs104893712		TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr3:122002611G>A	uc003eew.4	+	6	2278	c.1840G>A	c.(1840-1842)Gag>Aag	p.E614K	CASR_uc003eev.4_Missense_Mutation_p.E604K	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	604					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.I614I(1)|p.G613W(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CAAGGAGATCGAGTTTCTGTC	0.517													14	55					0	0	0.001855	0	0	A	122002611	G	A	122002611	3	1	176	1	0	0	0	0	1	0	0	0	2682	1059	37	2	1862	2	CASR	3	122002611	Missense_Mutation	SNP	G	TCGA-HT-7483-01A-11D-2024-08	102613172	122002611	76019819	5	7719											
TLR3	7098	broad.mit.edu	37	chr4	187004365	187004365	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcctcttcgtaacttgAccattctggatctaagcaac	10	12	6	13	1	3	1	0	1	3	0	5	2	4	2	3	1	4	2	3	1	3	5			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr4:187004365A>G	uc003iyq.3	+	3	1626	c.1525A>G	c.(1525-1527)Acc>Gcc	p.T509A	TLR3_uc011ckz.2_Missense_Mutation_p.T232A|TLR3_uc003iyr.3_Missense_Mutation_p.T232A	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	509					I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TCGTAACTTGACCATTCTGGA	0.443													51	63					0	0	0.01441	0	0	G	187004365	A	G	187004365	3	3	176	1	0	0	0	0	1	0	0	0	15949	275	10	3	1535	3	TLR3	4	187004365	Missense_Mutation	SNP	A	TCGA-HT-7483-01A-11D-2024-08		187004365	4149911	6	7720											
PACS1	55690	broad.mit.edu	37	chr11	65988687	65988687	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gattggcagcctcaacagcaAaggcagcctcggaaaagaca	15	4	11	11	1	1	1	1	0	0	1	2	3	1	2	2	3	4	3	2	3	4	1			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr11:65988687A>G	uc001oha.2	+	9	1396	c.1262A>G	c.(1261-1263)aAa>aGa	p.K421R		NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.	421					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CTCAACAGCAAAGGCAGCCTC	0.642													5	86					0	0	0.000602	0	0	G	65988687	A	G	65988687	3	3	176	1	0	0	0	0	1	0	0	0	11372	14	1	3	1300	3	PACS1	11	65988687	Missense_Mutation	SNP	A	TCGA-HT-7483-01A-11D-2024-08		65988687	69017829	7	7721											
FGD6	55785	broad.mit.edu	37	chr12	95604907	95604907	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttttggttttggggctatTgctggtttcattttctttgt	3	23	10	5	0	2	0	1	0	1	0	2	0	2	0	0	4	1	4	0	4	1	10			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr12:95604907T>G	uc001tdp.4	-	1	377	c.153A>C	c.(151-153)gcA>gcC	p.A51A	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	51					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TTGGGGCTATTGCTGGTTTCA	0.458													105	171					0	0	0.01441	0	0	G	95604907	T	G	95604907	2	3	176	1	0	0	0	0	0	0	0	1	5837	1799	63	5		5	FGD6	12	95604907	Silent	SNP	T	TCGA-HT-7483-01A-11D-2024-08		95604907	38246988	8	7722											
CDR2	1039	broad.mit.edu	37	chr16	22359074	22359074	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcaagtgctcattttcctCttcatcagggcttggctgac	6	16	8	11	0	5	1	4	1	1	0	6	1	6	1	1	2	1	3	1	2	1	5			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr16:22359074C>G	uc002dkn.3	-	4	885	c.577G>C	c.(577-579)Gag>Cag	p.E193Q		NM_001802	NP_001793	Q01850	CDR2_HUMAN	Homo sapiens cerebellar degeneration-related protein 2, 62kDa (CDR2), mRNA.	193						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		TCATTTTCCTCTTCATCAGGG	0.458													57	60					0	0	0.01441	0	0	G	22359074	C	G	22359074	3	3	176	1	0	0	0	0	1	0	0	0	3172	922	32	5	791	5	CDR2	16	22359074	Missense_Mutation	SNP	C	TCGA-HT-7483-01A-11D-2024-08		22359074	67995679	9	7723											
TP53	7157	broad.mit.edu	37	chr17	7577551	7577551	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcctccggttcatgccgcCcatgcaggaactgttacaca	8	8	11	14	2	1	0	1	0	0	0	2	1	2	1	4	3	4	3	4	3	2	2			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr17:7577551C>G	uc002gim.2	-	6	924	c.730G>C	c.(730-732)Ggc>Cgc	p.G244R	TP53_uc002gig.1_Missense_Mutation_p.G244R|TP53_uc002gih.3_Missense_Mutation_p.G244R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G112R|TP53_uc010cnf.1_Missense_Mutation_p.G112R|TP53_uc002gii.1_Missense_Mutation_p.G112R|TP53_uc010cni.1_Missense_Mutation_p.G244R|TP53_uc010cnh.1_Missense_Mutation_p.G244R|TP53_uc002gij.2_Missense_Mutation_p.G244R|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.G151R|TP53_uc002gio.2_Missense_Mutation_p.G112R|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.	244	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G244C(82)|p.G244S(75)|p.G244D(42)|p.G244V(14)|p.G244G(13)|p.M243L(10)|p.G244R(10)|p.G244fs*3(9)|p.G244A(9)|p.0?(8)|p.M243I(7)|p.M243T(5)|p.?(5)|p.G151C(4)|p.G244fs*4(4)|p.M243V(3)|p.G244fs*19(2)|p.G244fs*17(2)|p.C242_M246>L(2)|p.C238_M246delCNSSCMGGM(2)|p.M243K(2)|p.M243R(2)|p.G244del(2)|p.M243fs*18(2)|p.M243_G244>IC(2)|p.S241_G245delSCMGG(2)|p.G244_M246del(1)|p.Y236_M243delYMCNSSCM(1)|p.G151R(1)|p.G151S(1)|p.G151fs*4(1)|p.G244_M246>V(1)|p.M243fs*4(1)|p.C242fs*98(1)|p.G244E(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)		TTCATGCCGCCCATGCAGGAA	0.582		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)			52	11					0	0	0.01441	0	0	G	7577551	C	G	7577551	3	3	176	1	0	0	0	0	1	0	0	0	16378	623	22	5	560	5	TP53	17	7577551	Missense_Mutation	SNP	C	TCGA-HT-7483-01A-11D-2024-08		7577551	73617659	10	7724											
C17orf47	284083	broad.mit.edu	37	chr17	56620284	56620284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccatgaggagtcaggtcCgtacctaggtaaggaccgag	11	6	13	11	2	1	1	1	1	0	0	2	4	2	3	5	4	1	2	5	4	3	3			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr17:56620284C>T	uc002iwq.2	-	0	1450	c.1264G>A	c.(1264-1266)Gga>Aga	p.G422R	SEPT4_uc010wny.2_5'Flank|SEPT4_uc010wnx.2_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	Homo sapiens chromosome 17 open reading frame 47 (C17orf47), mRNA.	422										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGTCAGGTCCGTACCTAGGT	0.547													38	64					0	0	0.005524	0	0	T	56620284	C	T	56620284	3	4	176	1	0	0	0	0	1	0	0	0	1858	661	23	2	456	2	C17orf47	17	56620284	Missense_Mutation	SNP	C	TCGA-HT-7483-01A-11D-2024-08	49042733	56620284	24574926	11	7725											
PAPL	390928	broad.mit.edu	37	chr19	39591277	39591277	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggggataatgagggcctgtgGtacaggtaatgtgggggtgc	8	9	20	4	0	0	1	0	1	0	0	0	2	0	2	1	7	2	2	1	7	3	3	rs149656463	byFrequency	TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr19:39591277G>C	uc002oki.3	+	5	961	c.687G>C	c.(685-687)tgG>tgC	p.W229C	PAPL_uc010egl.3_Missense_Mutation_p.G188A	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA.	229						extracellular region	acid phosphatase activity|metal ion binding										AGGGCCTGTGGTACAGGTAAT	0.572													38	62					0	0	0.009718	0	0	C	39591277	G	C	39591277	3	2	176	1	0	0	0	0	1	0	0	0	11427	1270	44	5	705	5	PAPL	19	39591277	Missense_Mutation	SNP	G	TCGA-HT-7483-01A-11D-2024-08		39591277	19537706	12	7726											
ADRA1D	146	broad.mit.edu	37	chr20	4202427	4202427	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcgctgggtggctttcGacggctggcgaccggagcct	5	7	18	11	5	0	0	0	0	0	0	1	4	0	1	2	6	1	3	2	6	1	1			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr20:4202427G>T	uc002wkr.2	-	1	1517	c.1462C>A	c.(1462-1464)Cga>Aga	p.R488R		NM_000678	NP_000669	P25100	ADA1D_HUMAN	Homo sapiens adrenergic, alpha-1D-, receptor (ADRA1D), mRNA.	488					DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|cell proliferation|cell-cell signaling|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	GGTGGCTTTCGACGGCTGGCG	0.736													6	5					2.7689e-08	3.13006e-08	0.001984	1	0	T	4202427	G	T	4202427	2	4	176	1	0	0	0	0	0	0	0	1	336	1066	37	5		5	ADRA1D	20	4202427	Silent	SNP	G	TCGA-HT-7483-01A-11D-2024-08		4202427	58823093	13	7727											
CDH4	1002	broad.mit.edu	37	chr20	60419758	60419758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacaatgacatccccatccGgtacagcatcacgggagtgg	12	6	11	12	2	1	2	1	1	0	1	3	3	3	3	3	3	2	2	3	3	2	1			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr20:60419758G>A	uc002ybn.2	+	4	699	c.611G>A	c.(610-612)cGg>cAg	p.R204Q	CDH4_uc002ybr.2_Missense_Mutation_p.R167Q|CDH4_uc002ybp.2_Missense_Mutation_p.R130Q	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	204	Cadherin 1.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ATCCCCATCCGGTACAGCATC	0.607													9	58					0	0	0.008291	0	0	A	60419758	G	A	60419758	3	1	176	1	0	0	0	0	1	0	0	0	3112	1116	39	2	629	2	CDH4	20	60419758	Missense_Mutation	SNP	G	TCGA-HT-7483-01A-11D-2024-08	56217331	60419758	2605762	14	7728											
ATRX	546	broad.mit.edu	37	chrX	76814319	76814319	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgataaataatcgtcctcTgaaaatgaaaatatagaata	21	11	5	4	1	1	4	0	3	1	1	3	4	2	4	1	0	0	0	1	0	12	5			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chrX:76814319T>C	uc004ecp.4	-	29	6559	c.6327_splice	c.e29-1	p.R2109_splice	ATRX_uc004ecq.4_Splice_Site_p.R2071_splice|ATRX_uc004eco.4_Splice_Site_p.R1894_splice	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2109	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AATCGTCCTCTGAAAATGAAA	0.274			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						21	9					0	0	0.012319	0	0	C	76814319	T	C	76814319	5	2	176	1	0	0	0	0	0	0	1	0	1208	1594	55	4	1181	4	ATRX	23	76814319	Splice_Site	SNP	T	TCGA-HT-7483-01A-11D-2024-08		76814319	78456241	15	7729											
LRP2	4036	broad.mit.edu	37	chr2	170093662	170093662	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggatttgttaggtttttacTaatcagcacagtcctgtggc	8	16	10	7	0	1	0	1	0	0	0	2	1	2	1	1	3	2	3	1	3	3	6	rs140722973	by1000genomes	TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr2:170093662T>C	uc002ues.3	-	27	4855	c.4642A>G	c.(4642-4644)Agt>Ggt	p.S1548G		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1548					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGGTTTTTACTAATCAGCACA	0.383													37	60					0	0	1	0	0	C	170093662	T	C	170093662	3	2	177	1	0	0	0	0	1	0	0	0	8956	1522	53	4	9533	4	LRP2	2	170093662	Missense_Mutation	SNP	T	TCGA-HT-7485-01A-11D-2024-08		170093662	73105711	1	7730											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								18	35					0	0	1	0	0	T	209113112	C	T	209113112	3	4	177	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7485-01A-11D-2024-08	39019450	209113112	34086261	2	7731											
WDFY3	23001	broad.mit.edu	37	chr4	85612906	85612906	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcaagaatacctttatctgTacatacgatttgtcctacag	12	13	6	10	2	1	1	0	0	1	1	2	2	2	1	2	0	4	2	2	0	7	7			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr4:85612906T>C	uc003hpd.3	-	59	9490	c.9082A>G	c.(9082-9084)Aca>Gca	p.T3028A	WDFY3_uc003hpe.1_Missense_Mutation_p.T639A	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	3028						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CCTTTATCTGTACATACGATT	0.388													21	36					0	0	1	0	0	C	85612906	T	C	85612906	3	2	177	1	0	0	0	0	1	0	0	0	17267	1638	57	3	1534	3	WDFY3	4	85612906	Missense_Mutation	SNP	T	TCGA-HT-7485-01A-11D-2024-08		85612906	105541370	3	7732											
ABCC10	89845	broad.mit.edu	37	chr6	43403556	43403556	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacttcccttgggtgatcaAtggtctcctggaggccaaag	9	10	11	11	0	2	1	1	1	1	0	4	2	3	2	3	4	1	0	3	4	3	2	rs114002465	by1000genomes	TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr6:43403556A>G	uc003ouy.1	+	4	1891	c.1676A>G	c.(1675-1677)aAt>aGt	p.N559S	ABCC10_uc003ouz.1_Missense_Mutation_p.N516S|ABCC10_uc010jyo.1_5'UTR	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	559	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TGGGTGATCAATGGTCTCCTG	0.572													26	40					0	0	1	0	0	G	43403556	A	G	43403556	3	3	177	1	0	0	0	0	1	0	0	0	50	101	4	3	1557	3	ABCC10	6	43403556	Missense_Mutation	SNP	A	TCGA-HT-7485-01A-11D-2024-08		43403556	127711511	4	7733											
LGSN	51557	broad.mit.edu	37	chr6	63990506	63990506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctatcgacatcccagagaCtatgagacaaaatccctgaa	15	8	6	12	1	0	3	0	2	0	2	4	6	3	3	3	0	0	0	3	0	5	2			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr6:63990506C>T	uc003peh.3	-	3	984	c.950G>A	c.(949-951)aGt>aAt	p.S317N	LGSN_uc003pei.3_Intron	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	317					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	ATCCCAGAGACTATGAGACAA	0.433													22	37					0	0	1	0	0	T	63990506	C	T	63990506	3	4	177	1	0	0	0	0	1	0	0	0	8759	579	20	3	583	3	LGSN	6	63990506	Missense_Mutation	SNP	C	TCGA-HT-7485-01A-11D-2024-08	20586950	63990506	107124561	5	7734											
TRIP6	7205	broad.mit.edu	37	chr7	100469261	100469261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctggctgcttcacctgcGtggtgtgtcaccgcggcctc	3	10	12	16	3	2	0	2	0	0	0	3	0	2	0	4	3	2	2	4	3	0	1			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr7:100469261G>A	uc003uww.3	+	6	1266	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M	TRIP6_uc010lhk.2_Missense_Mutation_p.V100M|TRIP6_uc022aiv.1_Missense_Mutation_p.V345M|TRIP6_uc022ait.1_Missense_Mutation_p.V100M|TRIP6_uc022aiu.1_Missense_Mutation_p.V100M	NM_003302	NP_003293	Q15654	TRIP6_HUMAN	Homo sapiens thyroid hormone receptor interactor 6 (TRIP6), mRNA.	366	LIM zinc-binding 2.				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTTCACCTGCGTGGTGTGTCA	0.632													21	45					0	0	1	0	0	A	100469261	G	A	100469261	3	1	177	1	0	0	0	0	1	0	0	0	16556	1145	40	1	1122	1	TRIP6	7	100469261	Missense_Mutation	SNP	G	TCGA-HT-7485-01A-11D-2024-08		100469261	58669402	6	7735											
VWF	7450	broad.mit.edu	37	chr12	6155976	6155976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagtgcatgaagccatcctCacagtagctgcagagaagaa	15	6	10	10	0	1	3	1	1	0	2	2	4	2	3	2	0	4	4	2	0	4	1			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr12:6155976C>T	uc001qnn.1	-	16	2444	c.2194G>A	c.(2194-2196)Gag>Aag	p.E732K	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	732					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AAGCCATCCTCACAGTAGCTG	0.557													3	30					0	0	1	0	0	T	6155976	C	T	6155976	3	4	177	1	0	0	0	0	1	0	0	0	17243	835	29	3	6391	3	VWF	12	6155976	Missense_Mutation	SNP	C	TCGA-HT-7485-01A-11D-2024-08		6155976	127695919	7	7736											
EMG1	10436	broad.mit.edu	37	chr12	7080212	7080213	+	Splice_Site	INS	-	-	C																															acaagatcggaggccgtagtINSttattgtggtgctggaaggg																								rs36063533		TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr12:7080212_7080213insC	uc001qsh.4	+	1	269	c.126_splice	c.e1+1	p.S42_splice	PHB2_uc021quf.1_5'Flank|PHB2_uc021qug.1_5'Flank|PHB2_uc010sft.1_5'Flank|PHB2_uc010sfu.1_5'Flank|EMG1_uc009zfo.2_Non-coding_Transcript|EMG1_uc010sfv.1_Non-coding_Transcript	NM_006331	NP_006322	Q92979	NEP1_HUMAN	Homo sapiens EMG1 nucleolar protein homolog (S. cerevisiae) (EMG1), mRNA.	42					ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													4	8	---	---	---	---						C	7080213	-	C	7080212	8	5	177	1	0	1	1	0	0	0	1	0	5090	1722	60	0	128	0	EMG1	12	7080212	Splice_Site	INS	-	TCGA-HT-7485-01A-11D-2024-08	924236	7080212	126771683	8	7737											
MCTP2	55784	broad.mit.edu	37	chr15	94901781	94901781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctacttctctgacaggatggGcattttggacattgaagtgt	9	14	11	7	0	1	2	0	2	1	0	2	4	1	4	0	3	1	1	0	3	2	5			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr15:94901781G>A	uc002btj.3	+	8	1306	c.1241G>A	c.(1240-1242)gGc>gAc	p.G414D	MCTP2_uc010urg.1_Silent_p.G392G|MCTP2_uc002bti.2_Missense_Mutation_p.G414D|MCTP2_uc010boj.3_Missense_Mutation_p.G143D|MCTP2_uc010bok.3_Missense_Mutation_p.G414D|MCTP2_uc002btk.4_Missense_Mutation_p.G2D|MCTP2_uc002btl.3_Missense_Mutation_p.G2D	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	414	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GACAGGATGGGCATTTTGGAC	0.453													15	25					0	0	1	0	0	A	94901781	G	A	94901781	3	1	177	1	0	0	0	0	1	0	0	0	9401	1203	42	3	1275	3	MCTP2	15	94901781	Missense_Mutation	SNP	G	TCGA-HT-7485-01A-11D-2024-08		94901781	7629611	9	7738											
ACAP1	9744	broad.mit.edu	37	chr17	7250531	7250531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcatcaaccttggtgtcaCcctctgcattcagtgttccg	7	12	8	14	1	4	0	3	0	1	0	5	0	5	0	3	1	3	3	3	1	1	3			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr17:7250531C>T	uc002ggd.2	+	13	1519	c.1313C>T	c.(1312-1314)aCc>aTc	p.T438I		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA.	438	Arf-GAP.|Required for interaction with GULP1.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CTTGGTGTCACCCTCTGCATT	0.642													26	14					0	0	1	0	0	T	7250531	C	T	7250531	3	4	177	1	0	0	0	0	1	0	0	0	118	507	18	3	1367	3	ACAP1	17	7250531	Missense_Mutation	SNP	C	TCGA-HT-7485-01A-11D-2024-08		7250531	73944679	10	7739											
TP53	7157	broad.mit.edu	37	chr17	7578203	7578203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctcatagggcaccaccaCactatgtcgaaaagtgtttc	11	9	9	12	2	1	0	1	0	0	0	3	1	1	0	2	2	0	3	2	2	4	3			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr17:7578203C>T	uc002gim.2	-	5	840	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	TP53_uc002gig.1_Missense_Mutation_p.V216M|TP53_uc002gih.3_Missense_Mutation_p.V216M|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.V84M|TP53_uc010cnf.1_Missense_Mutation_p.V84M|TP53_uc002gii.1_Missense_Mutation_p.V84M|TP53_uc010cni.1_Missense_Mutation_p.V216M|TP53_uc010cnh.1_Missense_Mutation_p.V216M|TP53_uc002gij.2_Missense_Mutation_p.V216M|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.V123M|TP53_uc002gio.2_Missense_Mutation_p.V84M|TP53_uc010vug.2_Missense_Mutation_p.V177M|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	216	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V216M(117)|p.S215R(17)|p.V216del(16)|p.S215I(16)|p.V216L(15)|p.0?(8)|p.S215N(7)|p.V216G(6)|p.S215G(6)|p.S215C(5)|p.?(5)|p.V216E(5)|p.V216fs*6(4)|p.S215fs*32(4)|p.V216A(3)|p.S215T(3)|p.V84M(3)|p.V123M(3)|p.V216fs*32(2)|p.V216fs*33(2)|p.S215fs*27(2)|p.S215fs*29(2)|p.V216fs*5(2)|p.S215S(2)|p.V216_Y220delVVVPY(2)|p.D208_V216delDRNTFRHSV(2)|p.S215fs*31(2)|p.V216fs*31(2)|p.S215_V216insX(2)|p.D207_V216del10(2)|p.H214fs*5(2)|p.S215_V218>R(2)|p.S215_V218>M(2)|p.K164_P219del(1)|p.S215del(1)|p.H214_S215insX(1)|p.T211_S215delTFRHS(1)|p.S215_V218>RR(1)|p.D208fs*1(1)|p.V216fs*28(1)|p.T211fs*28(1)|p.R213_S215>X(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)		GGCACCACCACACTATGTCGA	0.537		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)			18	4					0	0	1	0	0	T	7578203	C	T	7578203	3	4	177	1	0	0	0	0	1	0	0	0	16378	478	17	3	648	3	TP53	17	7578203	Missense_Mutation	SNP	C	TCGA-HT-7485-01A-11D-2024-08	327672	7578203	73617007	11	7740											
MYH10	4628	broad.mit.edu	37	chr17	8424575	8424575	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgtctcagtcataccagtGacttgatccagacccacgat	10	10	8	13	1	2	3	2	2	1	1	4	4	3	3	3	0	1	1	3	0	1	2			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr17:8424575G>A	uc002glm.3	-	17	2082	c.1986C>T	c.(1984-1986)gtC>gtT	p.V662V	MYH10_uc002gll.3_Silent_p.V631V|MYH10_uc010cnx.3_Silent_p.V640V	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	631	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCATACCAGTGACTTGATCCA	0.463													32	63					0	0	1	0	0	A	8424575	G	A	8424575	2	1	177	1	0	0	0	0	0	0	0	1	10030	1277	45	3		3	MYH10	17	8424575	Silent	SNP	G	TCGA-HT-7485-01A-11D-2024-08	846372	8424575	72770635	12	7741											
DSC1	1823	broad.mit.edu	37	chr18	28725703	28725703	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatggagagtgtcaggttcGtcaaggtctgtggcggtcac	7	11	16	7	2	4	1	3	0	1	1	5	2	4	1	0	5	0	2	0	5	2	2			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr18:28725703G>A	uc002kwn.3	-	6	1072	c.810C>T	c.(808-810)gaC>gaT	p.D270D	DSC1_uc002kwm.3_Silent_p.D270D	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	270	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TGTCAGGTTCGTCAAGGTCTG	0.368													4	65					0	0	1	0	0	A	28725703	G	A	28725703	2	1	177	1	0	0	0	0	0	0	0	1	4765	1136	40	1		1	DSC1	18	28725703	Silent	SNP	G	TCGA-HT-7485-01A-11D-2024-08		28725703	49351545	13	7742											
SEMA6B	10501	broad.mit.edu	37	chr19	4556083	4556083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgaaggagcagcacctttaCgaagtttcgacactcgccct	10	8	9	14	4	0	0	0	0	0	0	2	4	0	1	3	1	3	3	3	1	3	3			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr19:4556083C>T	uc010dud.2	-	5	650	c.388G>A	c.(388-390)Gta>Ata	p.V130I	SEMA6B_uc010xih.1_Missense_Mutation_p.V130I	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B (SEMA6B), mRNA.	130	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCACCTTTACGAAGTTTCGA	0.607													6	32					0	0	1	0	0	T	4556083	C	T	4556083	3	4	177	1	0	0	0	0	1	0	0	0	14040	536	19	1	2326	1	SEMA6B	19	4556083	Missense_Mutation	SNP	C	TCGA-HT-7485-01A-11D-2024-08		4556083	54572900	14	7743											
ATRX	546	broad.mit.edu	37	chrX	76940489	76940489	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcatcactcatgtaatactTaaagcaattctattaaaaga	18	13	3	7	0	4	1	3	0	1	1	4	1	4	1	0	0	2	2	0	0	8	6			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chrX:76940489T>A	uc004ecp.4	-	7	836	c.604A>T	c.(604-606)Aag>Tag	p.K202*	ATRX_uc004ecq.4_Nonsense_Mutation_p.K164*|ATRX_uc004eco.4_5'UTR|ATRX_uc004ecr.2_Nonsense_Mutation_p.K163*|ATRX_uc010nlx.1_Nonsense_Mutation_p.K202*|ATRX_uc010nly.1_Nonsense_Mutation_p.K147*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	202	ADD.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATGTAATACTTAAAGCAATTC	0.284			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						49	8					0	0	1	0	0	A	76940489	T	A	76940489	4	1	177	1	0	0	0	0	0	1	0	0	1208	1763	61	5	6986	5	ATRX	23	76940489	Nonsense_Mutation	SNP	T	TCGA-HT-7485-01A-11D-2024-08		76940489	78330071	15	7744											
GPR112	139378	broad.mit.edu	37	chrX	135432487	135432487	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catatccttttacagcaactGtgtcttcaccaatatcgtcc	10	14	4	13	1	2	0	1	0	1	0	5	0	4	0	3	0	3	1	3	0	5	5			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chrX:135432487G>C	uc004ezu.1	+	5	6913	c.6622G>C	c.(6622-6624)Gtg>Ctg	p.V2208L	GPR112_uc010nsb.1_Missense_Mutation_p.V2003L|GPR112_uc010nsc.1_Missense_Mutation_p.V1975L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2208					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TACAGCAACTGTGTCTTCACC	0.453													5	55					0	0	1	0	0	C	135432487	G	C	135432487	3	2	177	1	0	0	0	0	1	0	0	0	6629	1377	48	5	6632	5	GPR112	23	135432487	Missense_Mutation	SNP	G	TCGA-HT-7485-01A-11D-2024-08	58491998	135432487	19838073	16	7745											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								29	85					0	0	1	0	0	T	209113112	C	T	209113112	3	4	178	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7601-01A-11D-2086-08		209113112	34086261	1	7746											
PLD1	5337	broad.mit.edu	37	chr3	171427368	171427368	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatttagctaaagcattcTcttggatagcagcatatgac	13	12	7	9	0	1	1	0	1	1	0	2	2	1	2	1	1	4	4	1	1	5	7			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr3:171427368T>C	uc003fhs.3	-	9	1390	c.1043A>G	c.(1042-1044)gAg>gGg	p.E348G	PLD1_uc003fht.3_Missense_Mutation_p.E348G	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	348					Ras protein signal transduction|cell communication|chemotaxis	Golgi membrane|endoplasmic reticulum membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TAAAGCATTCTCTTGGATAGC	0.413													34	84					0	0	1	0	0	C	171427368	T	C	171427368	3	2	178	1	0	0	0	0	1	0	0	0	12045	1551	54	4	2253	4	PLD1	3	171427368	Missense_Mutation	SNP	T	TCGA-HT-7601-01A-11D-2086-08		171427368	26595062	2	7747											
APBB2	323	broad.mit.edu	37	chr4	41015610	41015610	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggggtacctgtttcatcCggggagctgggtgaggcact	6	9	16	10	1	1	1	1	1	0	0	2	2	2	2	3	6	2	4	3	6	1	2			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr4:41015610C>T	uc003gvn.3	-	5	1455	c.825G>A	c.(823-825)ccG>ccA	p.P275P	APBB2_uc003gvl.3_Silent_p.P275P|APBB2_uc003gvm.3_Silent_p.P275P|APBB2_uc011byt.1_Silent_p.P258P	NM_004307	NP_004298	Q92870	APBB2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA.	275					cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CTGTTTCATCCGGGGAGCTGG	0.512													54	142					0	0	1	0	0	T	41015610	C	T	41015610	2	4	178	1	0	0	0	0	0	0	0	1	761	639	23	2		2	APBB2	4	41015610	Silent	SNP	C	TCGA-HT-7601-01A-11D-2086-08		41015610	150138666	3	7748											
GABRA1	2554	broad.mit.edu	37	chr5	161324271	161324271	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaggtcaagcccgaaacaaAaccaccagaacccaagaaaa	21	1	7	12	1	1	3	1	0	0	3	1	4	1	3	4	1	4	0	4	1	8	0			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr5:161324271A>T	uc010jiw.3	+	10	1682	c.1214A>T	c.(1213-1215)aAa>aTa	p.K405I	GABRA1_uc010jix.3_Missense_Mutation_p.K405I|GABRA1_uc010jiy.3_Missense_Mutation_p.K405I|GABRA1_uc003lyx.4_Missense_Mutation_p.K405I|GABRA1_uc010jiz.3_Missense_Mutation_p.K405I|GABRA1_uc010jja.3_Missense_Mutation_p.K405I|GABRA1_uc010jjb.3_Missense_Mutation_p.K405I	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	405					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.T404A(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CCCGAAACAAAACCACCAGAA	0.473													5	118					0	0	1	0	0	T	161324271	A	T	161324271	3	4	178	1	0	0	0	0	1	0	0	0	6160	14	1	5	1248	5	GABRA1	5	161324271	Missense_Mutation	SNP	A	TCGA-HT-7601-01A-11D-2086-08		161324271	19590989	4	7749											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34803152	34803152	+	Frame_Shift_Del	DEL	A	A	-																															tgctgactgactcacagctcAaggctatgatgaagtatgca																										TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr6:34803152delA	uc003oju.4	+	6	985	c.751delA	c.(751-753)aagfs	p.K251fs	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	251										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CTCACAGCTCAAGGCTATGAT	0.493													11	162	---	---	---	---						-	34803152	A	-	34803152	7	5	178	1	0	1	0	1	0	0	0	0	16965	131	5	0	777	0	UHRF1BP1	6	34803152	Frame_Shift_Del	DEL	A	TCGA-HT-7601-01A-11D-2086-08		34803152	136311915	5	7750											
TCP10L2	401285	broad.mit.edu	37	chr6	167592524	167592524	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatccatcttcccgaagtcTgcaaaactccggtggcagaa	11	8	9	13	2	2	1	0	0	2	1	5	2	5	1	3	2	2	3	3	2	4	1	rs2989545	by1000genomes	TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr6:167592524T>C	uc010kkp.3	+	5	814	c.683T>C	c.(682-684)cTg>cCg	p.L228P		NM_001145121	NP_001138593	B9ZVM9	B9ZVM9_HUMAN	Homo sapiens t-complex 10-like 2 (mouse) (TCP10L2), mRNA.	228										endometrium(1)|kidney(2)|lung(3)	6						TCCCGAAGTCTGCAAAACTCC	0.602													3	31					0	0	1	0	0	C	167592524	T	C	167592524	3	2	178	1	0	0	0	0	1	0	0	0	15709	1580	55	4	701	4	TCP10L2	6	167592524	Missense_Mutation	SNP	T	TCGA-HT-7601-01A-11D-2086-08	132789372	167592524	3522543	6	7751											
AOAH	313	broad.mit.edu	37	chr7	36570027	36570027	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacaaagctacttactttCatggaaggcaaaatccatgt	16	10	6	9	0	1	0	1	0	0	0	2	1	2	1	1	2	4	2	1	2	7	3			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr7:36570027C>A	uc022abu.1	-	18	1920	c.1519G>T	c.(1519-1521)Gaa>Taa	p.E507*	AOAH_uc003tfh.4_Nonsense_Mutation_p.E507*|AOAH_uc011kba.2_Nonsense_Mutation_p.E475*	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	507					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TACTTACTTTCATGGAAGGCA	0.408													4	71					0.150653	0.150653	1	1	0	A	36570027	C	A	36570027	4	1	178	1	0	0	0	0	0	1	0	0	726	835	29	5	561	5	AOAH	7	36570027	Nonsense_Mutation	SNP	C	TCGA-HT-7601-01A-11D-2086-08		36570027	122568636	7	7752											
NOM1	64434	broad.mit.edu	37	chr7	156742958	156742958	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcccggaaacgggcgctttTagcggcgaacgaggaggagg	9	5	18	9	6	0	0	0	0	0	0	0	5	0	3	1	6	4	1	1	6	3	2			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr7:156742958T>C	uc003wmy.3	+	0	542	c.527T>C	c.(526-528)tTa>tCa	p.L176S		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	Homo sapiens nucleolar protein with MIF4G domain 1 (NOM1), mRNA.	176	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CGGGCGCTTTTAGCGGCGAAC	0.672													18	62					0	0	1	0	0	C	156742958	T	C	156742958	3	2	178	1	0	0	0	0	1	0	0	0	10530	1764	61	3	529	3	NOM1	7	156742958	Missense_Mutation	SNP	T	TCGA-HT-7601-01A-11D-2086-08	120172931	156742958	2395705	8	7753											
KCNB2	9312	broad.mit.edu	37	chr8	73849082	73849082	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtggaagtgggccaggaagGctctgtcggaaacaagctcc	10	6	16	9	1	1	0	0	0	1	0	3	3	2	3	2	6	2	2	2	6	4	0			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr8:73849082G>C	uc003xzb.3	+	2	2080	c.1492G>C	c.(1492-1494)Gct>Cct	p.A498P		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	498					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GGCCAGGAAGGCTCTGTCGGA	0.542													36	94					0	0	1	0	0	C	73849082	G	C	73849082	3	2	178	1	0	0	0	0	1	0	0	0	8013	1203	42	5	1498	5	KCNB2	8	73849082	Missense_Mutation	SNP	G	TCGA-HT-7601-01A-11D-2086-08		73849082	72514940	9	7754											
TCEB1	6921	broad.mit.edu	37	chr8	74858991	74858991	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtaaaatacatgcatactttCgatagcacatgtgaaggtat	15	12	8	6	1	0	1	0	1	0	0	1	2	0	1	0	1	4	4	0	1	7	6			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr8:74858991C>T	uc022avv.1	-	5	497	c.213G>A	c.(211-213)tcG>tcA	p.S71S	TCEB1_uc022avw.1_Silent_p.S71S|TCEB1_uc022avx.1_Silent_p.S71S|TCEB1_uc003xzy.2_Silent_p.S71S|TCEB1_uc003yaa.2_Silent_p.S71S|TCEB1_uc022avy.1_Silent_p.S71S|TCEB1_uc003xzx.2_Silent_p.S71S|TCEB1_uc022avz.1_Silent_p.S55S|TCEB1_uc003xzz.2_Silent_p.S55S	NM_001204861	NP_001191790	Q15369	ELOC_HUMAN	Homo sapiens transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C) (TCEB1), transcript variant 7, mRNA.	71					interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm	protein binding			endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			TGCATACTTTCGATAGCACAT	0.398													3	52					0	0	1	0	0	T	74858991	C	T	74858991	2	4	178	1	0	0	0	0	0	0	0	1	15676	871	31	2		2	TCEB1	8	74858991	Silent	SNP	C	TCGA-HT-7601-01A-11D-2086-08	1009909	74858991	71505031	10	7755											
COL14A1	7373	broad.mit.edu	37	chr8	121238908	121238908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttagaaattgatgaggtgaCgacagacagttttagggtga	13	11	13	4	1	0	6	0	4	0	2	0	7	0	6	0	2	0	1	0	2	3	4			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr8:121238908C>T	uc003yox.3	+	15	2172	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M	COL14A1_uc003yoy.3_Missense_Mutation_p.T314M	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	636	Fibronectin type-III 5.		T -> A (in dbSNP:rs56815167).		cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GATGAGGTGACGACAGACAGT	0.483													25	51					0	0	1	0	0	T	121238908	C	T	121238908	3	4	178	1	0	0	0	0	1	0	0	0	3671	536	19	1	1965	1	COL14A1	8	121238908	Missense_Mutation	SNP	C	TCGA-HT-7601-01A-11D-2086-08	46379917	121238908	25125114	11	7756											
KIAA0196	9897	broad.mit.edu	37	chr8	126075804	126075804	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggggtttcactcctgaaaaGacatcagcaagctcagtcat	13	9	9	10	0	4	2	4	1	0	1	5	2	5	2	1	2	2	3	1	2	3	1			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr8:126075804G>C	uc003yrt.3	-	10	1697	c.1368C>G	c.(1366-1368)gtC>gtG	p.V456V	KIAA0196_uc011lir.2_Silent_p.V308V	NM_014846	NP_055661	Q12768	STRUM_HUMAN	Homo sapiens KIAA0196 (KIAA0196), mRNA.	456					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CTCCTGAAAAGACATCAGCAA	0.423													58	126					0	0	1	0	0	C	126075804	G	C	126075804	2	2	178	1	0	0	0	0	0	0	0	1	8161	929	33	5		5	KIAA0196	8	126075804	Silent	SNP	G	TCGA-HT-7601-01A-11D-2086-08	4836896	126075804	20288218	12	7757											
IFNA21	3452	broad.mit.edu	37	chr9	21166611	21166611	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaagaaaaggacagggccaTtgggatgttgccaatattgc	14	9	12	6	0	0	1	0	0	0	1	0	3	0	3	2	3	2	1	2	3	6	5			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr9:21166611T>C	uc003zom.2	-	0	49	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_002175	NP_002166	P01568	IFN21_HUMAN	Homo sapiens interferon, alpha 21 (IFNA21), mRNA.	1					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GACAGGGCCATTGGGATGTTG	0.488													25	58					0	0	1	0	0	C	21166611	T	C	21166611	3	2	178	1	0	0	0	0	1	0	0	0	7538	1493	52	3	572	3	IFNA21	9	21166611	Missense_Mutation	SNP	T	TCGA-HT-7601-01A-11D-2086-08		21166611	120046820	13	7758											
ABTB2	25841	broad.mit.edu	37	chr11	34182569	34182569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgcaccaccgagtaccGcgactgcgagaacgaggtcc	9	5	12	15	5	1	1	0	0	1	1	2	5	2	1	4	1	4	3	4	1	2	1			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr11:34182569G>A	uc001mvl.2	-	10	2703	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W		NM_145804	NP_665803	A8K6S9	A8K6S9_HUMAN	Homo sapiens ankyrin repeat and BTB (POZ) domain containing 2 (ABTB2), mRNA.	574							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				ACCGAGTACCGCGACTGCGAG	0.617													3	21					0	0	1	0	0	A	34182569	G	A	34182569	3	1	178	1	0	0	0	0	1	0	0	0	103	1086	38	1	827	1	ABTB2	11	34182569	Missense_Mutation	SNP	G	TCGA-HT-7601-01A-11D-2086-08		34182569	100823947	14	7759											
CPSF7	79869	broad.mit.edu	37	chr11	61183777	61183777	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggataccaggaggaggaggAgggaccccaaagcttgagga	13	4	17	7	0	0	1	0	1	0	0	0	8	0	8	3	7	2	1	3	7	2	2			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr11:61183777A>G	uc001nrq.3	-	5	899	c.765T>C	c.(763-765)ccT>ccC	p.P255P	CPSF7_uc001nrp.3_Silent_p.P298P|CPSF7_uc001nrr.3_Silent_p.P246P|CPSF7_uc001nrs.1_Silent_p.P156P	NM_001136040	NP_001129512	Q8N684	CPSF7_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 7, 59kDa (CPSF7), transcript variant 2, mRNA.	255	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	RNA binding|nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GAGGAGGAGGAGGGACCCCAA	0.617													3	68					0	0	1	0	0	G	61183777	A	G	61183777	2	3	178	1	0	0	0	0	0	0	0	1	3830	291	11	4		4	CPSF7	11	61183777	Silent	SNP	A	TCGA-HT-7601-01A-11D-2086-08	27001208	61183777	73822739	15	7760											
PITPNM1	9600	broad.mit.edu	37	chr11	67269773	67269773	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcctcacccaggatgcgCtgtctcctctcggccccgct	4	8	10	19	3	3	0	1	0	2	0	5	1	3	1	5	3	1	2	5	3	0	0			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr11:67269773C>T	uc001olx.3	-	2	594	c.405G>A	c.(403-405)caG>caA	p.Q135Q	PITPNM1_uc001oly.3_Silent_p.Q135Q|PITPNM1_uc001olz.3_Silent_p.Q135Q	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	135					brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CCAGGATGCGCTGTCTCCTCT	0.612													23	53					0	0	1	0	0	T	67269773	C	T	67269773	2	4	178	1	0	0	0	0	0	0	0	1	11950	796	28	3		3	PITPNM1	11	67269773	Silent	SNP	C	TCGA-HT-7601-01A-11D-2086-08	6085996	67269773	67736743	16	7761											
HEPHL1	341208	broad.mit.edu	37	chr11	93822035	93822035	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagcagcggtacgggatgaTaagaactttttacatcgccg	11	10	12	8	4	0	3	0	2	0	1	1	4	0	4	1	2	5	2	1	2	4	5			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr11:93822035T>C	uc001pep.2	+	11	2352	c.2195T>C	c.(2194-2196)aTa>aCa	p.I732T	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	732	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TACGGGATGATAAGAACTTTT	0.517													23	65					0	0	1	0	0	C	93822035	T	C	93822035	3	2	178	1	0	0	0	0	1	0	0	0	7055	1406	49	3	2241	3	HEPHL1	11	93822035	Missense_Mutation	SNP	T	TCGA-HT-7601-01A-11D-2086-08	26552262	93822035	41184481	17	7762											
ACVRL1	94	broad.mit.edu	37	chr12	52309001	52309008	+	Splice_Site	DEL	GCACACAG	GCACACAG	-																															ctgagtcacccaacctttctGcacacaggcttcatcgcctc																										TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr12:52309001_52309008delGCACACAG	uc001rzj.3	+	7	1056	c.773_splice	c.e7-1	p.G258_splice	ACVRL1_uc001rzk.3_Splice_Site_p.G258_splice|ACVRL1_uc010snm.2_Splice_Site_p.G84_splice	NM_000020	NP_001070869	P37023	ACVL1_HUMAN	Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	258	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of DNA replication|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	ATP binding|SMAD binding|activin binding|activin receptor activity, type I|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CAACCTTTCTGCACACAGGCTTCATCGC	0.615													8	38	---	---	---	---						-	52309008	GCACACAG	-	52309001	8	5	178	1	0	1	0	1	0	0	1	0	225	1334	46	0		0	ACVRL1	12	52309001	Splice_Site	DEL	GCACACAG	TCGA-HT-7601-01A-11D-2086-08		52309001	81542894	18	7763											
GJB2	2706	broad.mit.edu	37	chr13	20763148	20763148	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgcaatcatgaacactgtGaagacagtcttctccgtggg	11	10	10	10	1	3	3	1	2	2	1	4	3	3	3	1	1	2	1	1	1	3	1			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr13:20763148G>A	uc001umy.3	-	1	788	c.573C>T	c.(571-573)ttC>ttT	p.F191F	GJB2_uc021rha.1_Silent_p.F191F	NM_004004	NP_003995	P29033	CXB2_HUMAN	Homo sapiens gap junction protein, beta 2, 26kDa (GJB2), mRNA.	191			F -> L.		cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	ER-Golgi intermediate compartment|connexon complex|integral to membrane				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		TGAACACTGTGAAGACAGTCT	0.488									Keratitis, Ichthyosis and Deafness syndrome				4	66					0	0	1	0	0	A	20763148	G	A	20763148	2	1	178	1	0	0	0	0	0	0	0	1	6408	1281	45	3		3	GJB2	13	20763148	Silent	SNP	G	TCGA-HT-7601-01A-11D-2086-08		20763148	94406730	19	7764											
GJB2	2706	broad.mit.edu	37	chr13	20763400	20763400	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcactctttatctcccccttGatgaacttcctcttcttctc	5	18	2	16	0	6	2	1	2	5	0	9	2	7	2	3	0	1	0	3	0	2	6	rs111033253		TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr13:20763400G>C	uc001umy.3	-	1	536	c.321C>G	c.(319-321)atC>atG	p.I107M	GJB2_uc021rha.1_Missense_Mutation_p.I107M	NM_004004	NP_003995	P29033	CXB2_HUMAN	Homo sapiens gap junction protein, beta 2, 26kDa (GJB2), mRNA.	107					cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	ER-Golgi intermediate compartment|connexon complex|integral to membrane				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		TCTCCCCCTTGATGAACTTCC	0.547									Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	74					0	0	1	0	0	C	20763400	G	C	20763400	3	2	178	1	0	0	0	0	1	0	0	0	6408	1280	45	5	363	5	GJB2	13	20763400	Missense_Mutation	SNP	G	TCGA-HT-7601-01A-11D-2086-08	252	20763400	94406478	20	7765											
IPO5	3843	broad.mit.edu	37	chr13	98658457	98658457	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagttgccgatactgcagAagaaaaatttgtcccctact	13	11	7	10	1	1	2	1	0	0	2	2	3	2	2	3	0	4	2	3	0	5	4			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr13:98658457A>G	uc001vne.3	+	16	1805	c.1625A>G	c.(1624-1626)gAa>gGa	p.E542G	IPO5_uc001vnf.1_Missense_Mutation_p.E524G|IPO5_uc010tik.1_Missense_Mutation_p.E399G|IPO5_uc010til.1_Missense_Mutation_p.E464G|IPO5_uc001vng.1_Missense_Mutation_p.E145G	NM_002271	NP_002262	O00410	IPO5_HUMAN	Homo sapiens importin 5 (IPO5), mRNA.	524					NLS-bearing substrate import into nucleus|interspecies interaction between organisms|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|Ran GTPase binding|protein transporter activity			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GATACTGCAGAAGAAAAATTT	0.388													15	150					0	0	1	0	0	G	98658457	A	G	98658457	3	3	178	1	0	0	0	0	1	0	0	0	7796	246	9	3	1683	3	IPO5	13	98658457	Missense_Mutation	SNP	A	TCGA-HT-7601-01A-11D-2086-08	77895057	98658457	16511421	21	7766											
TCF12	6938	broad.mit.edu	37	chr15	57555366	57555369	+	Frame_Shift_Del	DEL	AAAG	AAAG	-																															cagaaatcaagactgaaaacAaagaaaaggatgaaaacctt																										TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr15:57555366_57555369delAAAG	uc002aec.3	+	16	1851_1854	c.1567_1570delAAAG	c.(1567-1572)aaagaafs	p.K523fs	TCF12_uc010ugm.1_Frame_Shift_Del_p.K575fs|TCF12_uc010ugn.1_Frame_Shift_Del_p.K543fs|TCF12_uc002aea.3_Frame_Shift_Del_p.K547fs|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Frame_Shift_Del_p.K547fs|TCF12_uc002aed.3_Frame_Shift_Del_p.K523fs|TCF12_uc010ugo.2_Frame_Shift_Del_p.K287fs|TCF12_uc002aee.3_Frame_Shift_Del_p.K353fs|TCF12_uc010bft.3_Frame_Shift_Del_p.K377fs|TCF12_uc010ugp.2_Frame_Shift_Del_p.K181fs|TCF12_uc010ugq.2_Frame_Shift_Del_p.K157fs|TCF12_uc010ugr.1_Frame_Shift_Del_p.K136fs	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	523				K -> E (in Ref. 3; CAD89914).	immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GACTGAAAACAAAGAAAAGGATGA	0.382			T	TEC	extraskeletal myxoid chondrosarcoma								17	25	---	---	---	---						-	57555369	AAAG	-	57555366	7	5	178	1	0	1	0	1	0	0	0	0	15684	131	5	0	1778	0	TCF12	15	57555366	Frame_Shift_Del	DEL	AAAG	TCGA-HT-7601-01A-11D-2086-08		57555366	44976026	22	7767											
MCTP2	55784	broad.mit.edu	37	chr15	94841633	94841633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggcatcacttggaccgcCgtctcagcctctctgtgcct	6	10	9	16	2	3	0	2	0	2	0	5	1	3	1	4	2	2	1	4	2	1	1			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr15:94841633C>T	uc002btj.3	+	0	204	c.139C>T	c.(139-141)Cgt>Tgt	p.R47C	MCTP2_uc010urg.1_Missense_Mutation_p.R47C|MCTP2_uc002bti.2_Missense_Mutation_p.R47C|MCTP2_uc010boj.3_5'UTR|MCTP2_uc010bok.3_Missense_Mutation_p.R47C|MCTP2_uc002btg.4_Missense_Mutation_p.R47C|MCTP2_uc002bth.4_Missense_Mutation_p.R47C	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	47					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.R46H(2)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CTTGGACCGCCGTCTCAGCCT	0.592													6	54					0	0	1	0	0	T	94841633	C	T	94841633	3	4	178	1	0	0	0	0	1	0	0	0	9401	652	23	2	141	2	MCTP2	15	94841633	Missense_Mutation	SNP	C	TCGA-HT-7601-01A-11D-2086-08	37286267	94841633	7689759	23	7768											
CPNE2	221184	broad.mit.edu	37	chr16	57147304	57147304	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaagctcaagttcgcgctCtttgaccaggacaagtccag	11	8	10	12	2	2	2	1	1	1	1	4	3	3	3	2	1	1	3	2	1	3	2			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr16:57147304C>G	uc010cct.2	+	3	710	c.363C>G	c.(361-363)ctC>ctG	p.L121L	CPNE2_uc002eks.2_Silent_p.L95L|CPNE2_uc010ccu.2_Silent_p.L95L	NM_152727	NP_689940	Q96FN4	CPNE2_HUMAN	Homo sapiens copine II (CPNE2), mRNA.	95										central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				AGTTCGCGCTCTTTGACCAGG	0.582													9	53					0	0	1	0	0	G	57147304	C	G	57147304	2	3	178	1	0	0	0	0	0	0	0	1	3812	900	32	5		5	CPNE2	16	57147304	Silent	SNP	C	TCGA-HT-7601-01A-11D-2086-08		57147304	33207449	24	7769											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			21	12					0	0	1	0	0	A	7577121	G	A	7577121	3	1	178	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-7601-01A-11D-2086-08		7577121	73618089	25	7770											
SLC6A4	6532	broad.mit.edu	37	chr17	28545875	28545875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccatttcggtggtactgtcCcagtgcgagctccatgtaaa	8	12	10	11	2	0	0	0	0	0	0	4	1	3	0	3	2	3	3	3	2	3	3			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr17:28545875C>T	uc002hey.4	-	3	962	c.418G>A	c.(418-420)Gga>Aga	p.G140R		NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	140					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	Rab GTPase binding|actin filament binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	TGGTACTGTCCCAGTGCGAGC	0.507													64	140					0	0	1	0	0	T	28545875	C	T	28545875	3	4	178	1	0	0	0	0	1	0	0	0	14686	632	22	3	1522	3	SLC6A4	17	28545875	Missense_Mutation	SNP	C	TCGA-HT-7601-01A-11D-2086-08	20968754	28545875	52649335	26	7771											
SMARCE1	6605	broad.mit.edu	37	chr17	38792704	38792704	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcttcatcagtgagatctcgCcacatgccaccaataatctt	11	12	5	13	1	5	1	2	1	3	1	6	2	5	1	3	0	1	0	3	0	2	3			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr17:38792704C>T	uc002hux.2	-	5	436	c.312G>A	c.(310-312)tgG>tgA	p.W104*	SMARCE1_uc010wff.1_Nonsense_Mutation_p.W69*|SMARCE1_uc010wfg.1_Nonsense_Mutation_p.W34*|SMARCE1_uc002huy.2_Nonsense_Mutation_p.W69*|SMARCE1_uc010wfh.1_Nonsense_Mutation_p.W34*|SMARCE1_uc010wfi.1_Nonsense_Mutation_p.W86*|SMARCE1_uc010wfj.1_Nonsense_Mutation_p.W86*	NM_003079	NP_003070	Q969G3	SMCE1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 (SMARCE1), mRNA.	104					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	SWI/SNF complex|nBAF complex|npBAF complex|nuclear chromosome|transcriptional repressor complex	DNA binding|N-acetyltransferase activity|chromatin binding|protein N-terminus binding|protein binding|transcription coactivator activity			large_intestine(1)	1		Breast(137;0.000812)				TGAGATCTCGCCACATGCCAC	0.408													8	149					0	0	1	0	0	T	38792704	C	T	38792704	4	4	178	1	0	0	0	0	0	1	0	0	14780	740	26	3	947	3	SMARCE1	17	38792704	Nonsense_Mutation	SNP	C	TCGA-HT-7601-01A-11D-2086-08	10246829	38792704	42402506	27	7772											
PRKAR1A	5573	broad.mit.edu	37	chr17	66525030	66525030	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagtctctggacaagtgggaAcgtcttacggtagctgatgc	9	10	14	8	2	2	1	0	1	2	0	3	4	2	3	0	3	4	2	0	3	4	2			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr17:66525030A>T	uc002jhg.3	+	8	969	c.789A>T	c.(787-789)gaA>gaT	p.E263D	PRKAR1A_uc002jhh.3_Missense_Mutation_p.E263D|PRKAR1A_uc002jhi.3_Missense_Mutation_p.E263D|PRKAR1A_uc002jhj.3_Missense_Mutation_p.E263D|PRKAR1A_uc002jhk.3_Missense_Mutation_p.E139D|PRKAR1A_uc002jhl.3_Missense_Mutation_p.E263D	NM_212471	NP_997637	P10644	KAP0_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, alpha (tissue specific extinguisher 1) (PRKAR1A), transcript variant 2, mRNA.	263					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					ACAAGTGGGAACGTCTTACGG	0.398			"T, Mis, N, F, S"	RET	papillary thyroid	"myxoma, endocrine, papillary thyroid"			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				13	115					0	0	1	0	0	T	66525030	A	T	66525030	3	4	178	1	0	0	0	0	1	0	0	0	12503	40	2	5	819	5	PRKAR1A	17	66525030	Missense_Mutation	SNP	A	TCGA-HT-7601-01A-11D-2086-08	27732326	66525030	14670180	28	7773											
SDK2	54549	broad.mit.edu	37	chr17	71418471	71418471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctttccccacgtcgttgacgGcacaaagacggaactggtag	10	8	11	12	4	0	2	0	1	0	1	2	3	1	3	2	3	1	3	2	3	3	3			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr17:71418471G>A	uc010dfm.3	-	14	2000	c.2000C>T	c.(1999-2001)gCc>gTc	p.A667V	SDK2_uc010dfn.2_Missense_Mutation_p.A346V	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	667	Fibronectin type-III 1.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GTCGTTGACGGCACAAAGACG	0.617													4	82					0	0	1	0	0	A	71418471	G	A	71418471	3	1	178	1	0	0	0	0	1	0	0	0	13969	1203	42	3	4642	3	SDK2	17	71418471	Missense_Mutation	SNP	G	TCGA-HT-7601-01A-11D-2086-08	4893441	71418471	9776739	29	7774											
LLGL2	3993	broad.mit.edu	37	chr17	73567818	73567818	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgccttctccctgcgtgtGcctcccgccgagcggagaat	5	10	11	15	4	1	1	0	0	1	1	3	3	2	1	5	1	4	0	5	1	2	2			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr17:73567818G>A	uc002joh.3	+	17	2401	c.2247G>A	c.(2245-2247)gtG>gtA	p.V749V	LLGL2_uc002joi.3_Silent_p.V749V|LLGL2_uc010dgg.2_Silent_p.V749V|LLGL2_uc002joj.3_Silent_p.V738V|LLGL2_uc010wsd.2_Silent_p.V376V	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	749					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCCTGCGTGTGCCTCCCGCCG	0.672													7	72					0	0	1	0	0	A	73567818	G	A	73567818	2	1	178	1	0	0	0	0	0	0	0	1	8834	1306	46	3		3	LLGL2	17	73567818	Silent	SNP	G	TCGA-HT-7601-01A-11D-2086-08	2149347	73567818	7627392	30	7775											
LAMA1	284217	broad.mit.edu	37	chr18	6986294	6986294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttcaatacctccaattcttCcagcggcttctggtaatttt	8	17	5	11	1	3	0	1	0	2	0	5	0	5	0	3	2	2	2	3	2	4	8			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr18:6986294C>T	uc002knm.3	-	36	5315	c.5221G>A	c.(5221-5223)Gaa>Aaa	p.E1741K	LAMA1_uc010wzj.2_Missense_Mutation_p.E1217K	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1741	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCAATTCTTCCAGCGGCTTC	0.428													4	94					0	0	1	0	0	T	6986294	C	T	6986294	3	4	178	1	0	0	0	0	1	0	0	0	8605	864	30	3	4114	3	LAMA1	18	6986294	Missense_Mutation	SNP	C	TCGA-HT-7601-01A-11D-2086-08		6986294	71090954	31	7776											
LIPE	3991	broad.mit.edu	37	chr19	42930578	42930578	+	Missense_Mutation	SNP	A	A	T																															ggctggagaatctgtgtctgAagatgatcccacatctgatt																										TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr19:42930578A>T	uc002otr.3	-	0	1001	c.724T>A	c.(724-726)Tca>Aca	p.S242T	AK311181_uc010eif.1_Intron|AK310497_uc002ott.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|LIPE_uc002ots.1_5'Flank	NM_005357	NP_005348	Q05469	LIPS_HUMAN	Homo sapiens lipase, hormone-sensitive (LIPE), mRNA.	242					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TCTGTGTCTGAAGATGATCCC	0.473													41	59					0	0	1	0	0	T	42930578	A	T	42930578	3	4	178	1	0	0	0	0	1	0	0	0	8821	246	9	5	2546	5	LIPE	19	42930578	Missense_Mutation	SNP	A	TCGA-HT-7601-01A-11D-2086-08		42930578	16198405	32	7777	30	2									
LIPE	3991	broad.mit.edu	37	chr19	42930579	42930579	+	Silent	SNP	A	A	T																															gctggagaatctgtgtctgaAgatgatcccacatctgattc																										TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr19:42930579A>T	uc002otr.3	-	0	1000	c.723T>A	c.(721-723)tcT>tcA	p.S241S	AK311181_uc010eif.1_Intron|AK310497_uc002ott.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|LIPE_uc002ots.1_5'Flank	NM_005357	NP_005348	Q05469	LIPS_HUMAN	Homo sapiens lipase, hormone-sensitive (LIPE), mRNA.	241					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CTGTGTCTGAAGATGATCCCA	0.473													40	58					0	0	1	0	0	T	42930579	A	T	42930579	2	4	178	1	0	0	0	0	0	0	0	1	8821	59	3	5		5	LIPE	19	42930579	Silent	SNP	A	TCGA-HT-7601-01A-11D-2086-08	1	42930579	16198404	33	7778	30	2									
AKAP4	8852	broad.mit.edu	37	chrX	49957504	49957504	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatatccattttctgggaGtccaggtgttggttctcctt	6	16	10	9	0	2	0	0	0	2	0	5	2	4	1	3	3	0	2	3	3	1	6			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chrX:49957504G>C	uc004dow.1	-	4	1984	c.1860C>G	c.(1858-1860)gaC>gaG	p.D620E	AKAP4_uc004dou.1_Missense_Mutation_p.D611E|AKAP4_uc004dov.1_Missense_Mutation_p.D237E|AKAP4_uc010njp.1_Missense_Mutation_p.D442E	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	620					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TTTTCTGGGAGTCCAGGTGTT	0.463													9	208					0	0	1	0	0	C	49957504	G	C	49957504	3	2	178	1	0	0	0	0	1	0	0	0	453	1020	36	5	712	5	AKAP4	23	49957504	Missense_Mutation	SNP	G	TCGA-HT-7601-01A-11D-2086-08		49957504	105313056	34	7779											
KLHL13	90293	broad.mit.edu	37	chrX	117032912	117032912	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctagaaggtgatggtgTggtttcttctggtggaaaaa	9	14	13	5	0	3	2	0	1	3	1	4	3	3	3	0	5	0	1	0	5	4	3			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chrX:117032912T>G	uc011mtp.2	-	7	2069	c.1936A>C	c.(1936-1938)Aca>Cca	p.T646P	KLHL13_uc004eqk.3_Missense_Mutation_p.T592P|KLHL13_uc004eql.3_Missense_Mutation_p.T643P|KLHL13_uc011mtn.2_Missense_Mutation_p.T483P|KLHL13_uc011mto.2_Missense_Mutation_p.T637P|KLHL13_uc011mtq.2_Missense_Mutation_p.T627P|KLHL13_uc004eqm.3_Missense_Mutation_p.T601P|KLHL13_uc022cde.1_Missense_Mutation_p.T627P	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	643					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GGTGATGGTGTGGTTTCTTCT	0.418													12	135					0	0	1	0	0	G	117032912	T	G	117032912	3	3	178	1	0	0	0	0	1	0	0	0	8369	1696	59	5	44	5	KLHL13	23	117032912	Missense_Mutation	SNP	T	TCGA-HT-7601-01A-11D-2086-08	67075408	117032912	38237648	35	7780											
PTPRF	5792	broad.mit.edu	37	chr1	44069662	44069662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggcggagaggaacgggCgcatcatcagctacaccgtg	9	6	15	11	4	2	1	2	0	0	1	2	3	2	2	1	4	4	3	1	4	2	1			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr1:44069662C>T	uc001cjr.3	+	15	3179	c.2839C>T	c.(2839-2841)Cgc>Tgc	p.R947C	PTPRF_uc001cjs.3_Missense_Mutation_p.R938C|PTPRF_uc001cju.3_Intron|PTPRF_uc009vwt.3_Missense_Mutation_p.R507C|PTPRF_uc001cjv.3_Missense_Mutation_p.R407C|PTPRF_uc001cjw.3_Missense_Mutation_p.R173C	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	947	Fibronectin type-III 7.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGGAACGGGCGCATCATCAG	0.602													4	50					0	0	1	0	0	T	44069662	C	T	44069662	3	4	179	1	0	0	0	0	1	0	0	0	12801	768	27	1	2893	1	PTPRF	1	44069662	Missense_Mutation	SNP	C	TCGA-HT-7602-01A-21D-2086-08		44069662	205180959	1	7781											
NBPF10	100132406	broad.mit.edu	37	chr1	145325986	145325986	+	Frame_Shift_Del	DEL	G	G	-																															tgctggatgagaaagggcctGaagtcttgcaagactcactg																										TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr1:145325986delG	uc021oul.1	+	29	3894	c.3859delG	c.(3859-3861)gaafs	p.E1287fs	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021oum.1_Intron|NBPF10_uc021oun.1_Intron|NBPF10_uc021ouo.1_Intron|NBPF10_uc021oup.1_Intron|NBPF10_uc010oyp.1_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	1287										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAAAGGGCCTGAAGTCTTGCA	0.468													3	5	---	---	---	---						-	145325986	G	-	145325986	7	5	179	1	0	1	0	1	0	0	0	0	10193	1291	45	0	3977	0	NBPF10	1	145325986	Frame_Shift_Del	DEL	G	TCGA-HT-7602-01A-21D-2086-08	101256324	145325986	103924635	2	7782											
CEP350	9857	broad.mit.edu	37	chr1	179991958	179991959	+	Frame_Shift_Ins	INS	-	-	A																															agggactgggacttcgacagINSaaaaaaaatcaactcttgaa																										TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr1:179991958_179991959insA	uc001gnt.3	+	12	3744_3745	c.3361_3362insA	c.(3361-3363)gaafs	p.E1121fs	CEP350_uc009wxl.2_Frame_Shift_Ins_p.E1120fs|CEP350_uc001gnu.3_Frame_Shift_Ins_p.E955fs	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	1121	Ser-rich.					centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GACTTCGACAGAAAAAAAATCA	0.391													3	5	---	---	---	---						A	179991959	-	A	179991958	7	5	179	1	0	1	1	0	0	0	0	0	3254	943	33	0	3407	0	CEP350	1	179991958	Frame_Shift_Ins	INS	-	TCGA-HT-7602-01A-21D-2086-08	34665972	179991958	69258663	3	7783											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								23	84					0	0	1	0	0	T	209113112	C	T	209113112	3	4	179	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7602-01A-21D-2086-08		209113112	34086261	4	7784											
ZDHHC19	131540	broad.mit.edu	37	chr3	195925263	195925263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acattggagggtgcagattcGgcatggatgtccagtcaggc	9	9	15	8	1	1	1	1	0	0	1	3	3	2	3	1	5	1	2	1	5	0	2			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr3:195925263G>A	uc003fwc.3	-	6	947	c.833C>T	c.(832-834)cCg>cTg	p.P278L	ZDHHC19_uc010iaa.3_Non-coding_Transcript|ZDHHC19_uc010hzz.3_Non-coding_Transcript|ZDHHC19_uc010iab.3_Intron	NM_001039617	NP_001034706	Q8WVZ1	ZDH19_HUMAN	Homo sapiens zinc finger, DHHC-type containing 19 (ZDHHC19), mRNA.	278						integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		GTGCAGATTCGGCATGGATGT	0.657													7	82					0	0	1	0	0	A	195925263	G	A	195925263	3	1	179	1	0	0	0	0	1	0	0	0	17606	1116	39	2	100	2	ZDHHC19	3	195925263	Missense_Mutation	SNP	G	TCGA-HT-7602-01A-21D-2086-08		195925263	2097167	5	7785											
SH3RF1	57630	broad.mit.edu	37	chr4	170042112	170042112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctagttcatcctctttccGaggagtgtatggatatatag	9	15	9	8	1	3	0	1	0	2	0	5	3	5	2	2	2	0	2	2	2	5	7			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr4:170042112G>A	uc003isa.1	-	7	1710	c.1375C>T	c.(1375-1377)Cgg>Tgg	p.R459W	SH3RF1_uc010irc.1_Missense_Mutation_p.R159W	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.	459	Interaction with AKT2 (By similarity).|SH3 3.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TCCTCTTTCCGAGGAGTGTAT	0.403													4	76					0	0	1	0	0	A	170042112	G	A	170042112	3	1	179	1	0	0	0	0	1	0	0	0	14258	1057	37	2	1311	2	SH3RF1	4	170042112	Missense_Mutation	SNP	G	TCGA-HT-7602-01A-21D-2086-08		170042112	21112164	6	7786											
ADAMTS12	81792	broad.mit.edu	37	chr5	33576465	33576465	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagtagtgggcctttggctGgggagcagtccttccattac	7	11	14	9	0	0	0	0	0	0	0	2	2	2	1	3	4	2	3	3	4	3	4			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr5:33576465G>A	uc003jia.1	-	18	3829	c.3666C>T	c.(3664-3666)ccC>ccT	p.P1222P	ADAMTS12_uc010iuq.1_Silent_p.P1137P	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1222	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P1222S(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCCTTTGGCTGGGGAGCAGTC	0.557										HNSCC(64;0.19)			6	112					0	0	1	0	0	A	33576465	G	A	33576465	2	1	179	1	0	0	0	0	0	0	0	1	257	1335	47	3		3	ADAMTS12	5	33576465	Silent	SNP	G	TCGA-HT-7602-01A-21D-2086-08		33576465	147338795	7	7787											
NAT2	10	broad.mit.edu	37	chr8	18257912	18257912	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcctcccagatgtggcaGcctctagaattaatttctgg	9	12	9	11	0	2	2	0	0	2	2	4	2	4	2	3	2	2	2	3	2	3	3			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr8:18257912G>C	uc022asl.1	+	0	399	c.399G>C	c.(397-399)caG>caC	p.Q133H	NAT2_uc003wyw.1_Missense_Mutation_p.Q133H	NM_000015	NP_000006	P11245	ARY2_HUMAN	Homo sapiens N-acetyltransferase 2 (arylamine N-acetyltransferase) (NAT2), mRNA.	133					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		AGATGTGGCAGCCTCTAGAAT	0.502									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				16	64					0	0	1	0	0	C	18257912	G	C	18257912	3	2	179	1	0	0	0	0	1	0	0	0	10177	962	34	5	401	5	NAT2	8	18257912	Missense_Mutation	SNP	G	TCGA-HT-7602-01A-21D-2086-08		18257912	128106110	8	7788											
PPP2R2D	55844	broad.mit.edu	37	chr10	133757525	133757525	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagcgagtccacggcgaatTtttgcaaatgctcacacata	13	9	9	10	3	1	0	1	0	0	0	2	3	2	0	1	1	3	2	1	1	4	3			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr10:133757525T>G	uc001lks.3	+	3	433	c.432T>G	c.(430-432)atT>atG	p.I144M	PPP2R2D_uc001lkr.3_Intron|PPP2R2D_uc001lkt.3_Intron|PPP2R2D_uc009yay.3_Missense_Mutation_p.I12M	NM_018461	NP_060931	Q66LE6	2ABD_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, delta (PPP2R2D), transcript variant 1, mRNA.	177					cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		CACGGCGAATTTTTGCAAATG	0.363													20	28					0	0	1	0	0	G	133757525	T	G	133757525	3	3	179	1	0	0	0	0	1	0	0	0	12387	1829	64	5	447	5	PPP2R2D	10	133757525	Missense_Mutation	SNP	T	TCGA-HT-7602-01A-21D-2086-08		133757525	1777222	9	7789											
MPEG1	219972	broad.mit.edu	37	chr11	58978417	58978417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccccatggatgacattcatgGccctccgcagctctatcggt	7	10	9	15	2	2	1	1	1	1	0	4	2	3	2	4	3	1	2	4	3	1	2			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr11:58978417G>A	uc001nnu.4	-	0	2078	c.1922C>T	c.(1921-1923)gCc>gTc	p.A641V		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	Homo sapiens macrophage expressed 1 (MPEG1), mRNA.	641						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GACATTCATGGCCCTCCGCAG	0.547													12	152					0	0	1	0	0	A	58978417	G	A	58978417	3	1	179	1	0	0	0	0	1	0	0	0	9723	1203	42	3	232	3	MPEG1	11	58978417	Missense_Mutation	SNP	G	TCGA-HT-7602-01A-21D-2086-08		58978417	76028099	10	7790											
NCKAP1L	3071	broad.mit.edu	37	chr12	54911640	54911640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggattaggtctctggtccGaagacacatcaaagtgatac	12	9	12	8	1	2	2	1	1	1	1	4	4	3	3	1	4	1	0	1	4	4	2			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr12:54911640G>A	uc001sgc.4	+	12	1335	c.1256G>A	c.(1255-1257)cGa>cAa	p.R419Q	NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Missense_Mutation_p.R369Q	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	419					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TCTCTGGTCCGAAGACACATC	0.388													27	77					0	0	1	0	0	A	54911640	G	A	54911640	3	1	179	1	0	0	0	0	1	0	0	0	10222	1058	37	2	1306	2	NCKAP1L	12	54911640	Missense_Mutation	SNP	G	TCGA-HT-7602-01A-21D-2086-08		54911640	78940255	11	7791											
ACACB	32	broad.mit.edu	37	chr12	109654442	109654442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gataccgcagcgggatccgcGgctatatgaaaacagtggtg	11	7	14	9	4	0	1	0	1	0	0	1	3	1	2	2	3	3	2	2	3	5	3			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr12:109654442G>A	uc001tob.3	+	22	3489	c.3370G>A	c.(3370-3372)Ggc>Agc	p.G1124S	ACACB_uc001toc.3_Missense_Mutation_p.G1124S	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1124					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding	p.G1124S(2)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CGGGATCCGCGGCTATATGAA	0.458													10	119					0	0	1	0	0	A	109654442	G	A	109654442	3	1	179	1	0	0	0	0	1	0	0	0	107	1116	39	2	3456	2	ACACB	12	109654442	Missense_Mutation	SNP	G	TCGA-HT-7602-01A-21D-2086-08	54742802	109654442	24197453	12	7792											
ZIC2	7546	broad.mit.edu	37	chr13	100637726	100637726	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggcggcagcggcggcggcGgctgcggcggcggcggccgc	1	1	24	15	11	0	0	0	0	0	0	0	0	0	0	1	10	2	2	1	10	0	0			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr13:100637726G>T	uc001von.3	+	2	1682	c.1389G>T	c.(1387-1389)gcG>gcT	p.A463A		NM_007129	NP_009060	O95409	ZIC2_HUMAN	Homo sapiens Zic family member 2 (ZIC2), mRNA.	463	Poly-Ala.				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					cggcggcggcggctgcggcgg	0.816													3	16					0.115264	0.115264	1	1	0	T	100637726	G	T	100637726	2	4	179	1	0	0	0	0	0	0	0	1	17676	1103	39	5		5	ZIC2	13	100637726	Silent	SNP	G	TCGA-HT-7602-01A-21D-2086-08		100637726	14532152	13	7793											
MNT	4335	broad.mit.edu	37	chr17	2298167	2298168	+	Splice_Site	INS	-	-	C																															accccgccacaccccactcaINSccccccgggcctcttcttct																										TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr17:2298167_2298168insC	uc002fur.3	-	2	905	c.653_splice	c.e2+1	p.G218_splice		NM_020310	NP_064706	Q99583	MNT_HUMAN	Homo sapiens MAX binding protein (MNT), mRNA.	218					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		CACCCCACTCACCCCCCGGGCC	0.663													2	4	---	---	---	---						C	2298168	-	C	2298167	8	5	179	1	0	1	1	0	0	0	1	0	9678	173	6	0	1113	0	MNT	17	2298167	Splice_Site	INS	-	TCGA-HT-7602-01A-21D-2086-08		2298167	78897043	14	7794											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	5	11	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	0	2	rs28934574		TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr17:7577094G>A	uc002gim.2	-	7	1038	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W|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.	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(805)|p.R282G(57)|p.D281E(28)|p.D281N(26)|p.R282Q(24)|p.D281H(19)|p.R282P(16)|p.R282R(12)|p.D281Y(11)|p.D281G(10)|p.0?(8)|p.R282fs*24(7)|p.D281D(5)|p.D281fs*63(4)|p.D281V(4)|p.D281_R282>EW(4)|p.R282L(3)|p.A276_R283delACPGRDRR(2)|p.R282_E287delRRTEEE(2)|p.C275_R283delCACPGRDRR(2)|p.D281_R282insXX(2)|p.?(2)|p.L265_K305del41(2)|p.R282H(2)|p.R280_D281delRD(2)|p.V272_K292del21(2)|p.R282fs*63(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.S269fs*21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281>AGPY(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)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)			7	39					0	0	1	0	0	A	7577094	G	A	7577094	3	1	179	1	0	0	0	0	1	0	0	0	16378	1115	39	2	442	2	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-HT-7602-01A-21D-2086-08	5278927	7577094	73618116	15	7795			1	16		3	3	1399	N	G_C	3.299683e-07
TP53	7157	broad.mit.edu	37	chr17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	11	10	8	12	1	2	0	1	0	1	0	4	1	3	0	3	1	0	2	3	1	3	2			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr17:7578212G>A	uc002gim.2	-	5	831	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_uc002gig.1_Nonsense_Mutation_p.R213*|TP53_uc002gih.3_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.2_Nonsense_Mutation_p.R174*|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(467)|p.R213L(35)|p.R213Q(27)|p.R81*(21)|p.R120*(21)|p.R213fs*34(13)|p.F212fs*3(11)|p.0?(8)|p.R213G(8)|p.R213P(5)|p.?(5)|p.R213R(5)|p.R213fs*35(4)|p.F212L(3)|p.D208_V216delDRNTFRHSV(2)|p.D207_R213delDDRNTFR(2)|p.T211_S215delTFRHS(2)|p.F212I(2)|p.F212S(2)|p.R209_R213delRNTFR(2)|p.R213fs*2(2)|p.R213_S215>X(2)|p.D207_V216del10(2)|p.R213fs*32(2)|p.R213W(2)|p.K164_P219del(1)|p.R120G(1)|p.T211_F212insX(1)|p.F212fs*4(1)|p.R213*33(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R213>L(1)|p.R120fs*35(1)|p.R81G(1)|p.F212Y(1)|p.T211fs*28(1)|p.R209fs*6(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)		ACACTATGTCGAAAAGTGTTT	0.532		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)			5	64					0	0	1	0	0	A	7578212	G	A	7578212	4	1	179	1	0	0	0	0	0	1	0	0	16378	1066	37	2	657	2	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-HT-7602-01A-21D-2086-08	1118	7578212	73616998	16	7796			1	16		3	3	1399	N	G_C	3.299683e-07
TP53	7157	broad.mit.edu	37	chr17	7578492	7578492	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcgggggtgtggaatcaacCcacagctgcacagggcaggt	9	5	17	10	1	1	0	1	0	0	0	1	1	1	1	1	6	3	3	1	6	2	0			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr17:7578492C>T	uc002gim.2	-	4	632	c.438G>A	c.(436-438)tgG>tgA	p.W146*	TP53_uc002gig.1_Nonsense_Mutation_p.W146*|TP53_uc002gih.3_Nonsense_Mutation_p.W146*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.W14*|TP53_uc010cnf.1_Nonsense_Mutation_p.W14*|TP53_uc002gii.1_Nonsense_Mutation_p.W14*|TP53_uc010cni.1_Nonsense_Mutation_p.W146*|TP53_uc010cnh.1_Nonsense_Mutation_p.W146*|TP53_uc002gij.2_Nonsense_Mutation_p.W146*|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Nonsense_Mutation_p.W53*|TP53_uc002gio.2_Nonsense_Mutation_p.W14*|TP53_uc010vug.2_Nonsense_Mutation_p.W107*	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	146	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		W -> C (in a sporadic cancer; somatic mutation).|W -> G (in sporadic cancers; somatic mutation).|W -> L (in sporadic cancers; somatic mutation).|W -> R (in sporadic cancers; somatic mutation).|W -> S (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.W146*(105)|p.L145P(17)|p.L145Q(17)|p.0?(8)|p.L145L(8)|p.L145R(7)|p.W146R(5)|p.W146C(4)|p.W14*(3)|p.W53*(3)|p.L137_W146del10(2)|p.W146fs*22(2)|p.W146fs*23(2)|p.W146_S149>C(2)|p.W146S(2)|p.W146fs*1(2)|p.V143_S149del(2)|p.Q144_G154del11(2)|p.W146_V147insXXXXXXX(2)|p.L145V(2)|p.L145del(1)|p.W146fs*25(1)|p.W146G(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.L145M(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)		TGGAATCAACCCACAGCTGCA	0.602		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)			5	95					0	0	1	0	0	T	7578492	C	T	7578492	4	4	179	1	0	0	0	0	0	1	0	0	16378	624	22	3	860	3	TP53	17	7578492	Nonsense_Mutation	SNP	C	TCGA-HT-7602-01A-21D-2086-08	280	7578492	73616718	17	7797			1	16		3	3	1399	N	G_C	3.299683e-07
PLA2G3	50487	broad.mit.edu	37	chr22	31533838	31533838	+	Frame_Shift_Del	DEL	A	A	-																															tgatgtggtggccccttccgAaggtgctgcttctgtcgagg																										TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr22:31533838delA	uc003aka.3	-	3	1053	c.924delT	c.(922-924)cttfs	p.L308fs		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	308					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GCCCCTTCCGAAGGTGCTGCT	0.647													8	244	---	---	---	---						-	31533838	A	-	31533838	7	5	179	1	0	1	0	1	0	0	0	0	12000	233	9	0	621	0	PLA2G3	22	31533838	Frame_Shift_Del	DEL	A	TCGA-HT-7602-01A-21D-2086-08		31533838	19770728	18	7798											
ESPN	83715	broad.mit.edu	37	chr1	6488429	6488429	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctatccactacgctgcCgccaaaggagacttcccctc	8	8	7	18	2	0	1	0	0	0	1	3	2	2	1	6	1	3	1	6	1	3	3	rs142425048	by1000genomes	TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr1:6488429C>T	uc001amy.3	+	1	606	c.438C>T	c.(436-438)gcC>gcT	p.A146A		NM_031475	NP_113663	B1AK53	ESPN_HUMAN	Homo sapiens espin (ESPN), mRNA.	146					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	SH3 domain binding|actin filament binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		ACTACGCTGCCGCCAAAGGAG	0.647													3	36					0	0	1	0	0	T	6488429	C	T	6488429	2	4	180	1	0	0	0	0	0	0	0	1	5254	639	23	2		2	ESPN	1	6488429	Silent	SNP	C	TCGA-HT-7603-01A-21D-2086-08		6488429	242762192	1	7799											
TMEM79	84283	broad.mit.edu	37	chr1	156255699	156255699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgccgtttgatgtcccaCggctgcccaccatgagttcc	5	11	9	16	2	0	2	0	2	0	0	3	2	3	2	6	1	2	3	6	1	0	2			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr1:156255699C>T	uc010phi.2	+	1	878	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	TMEM79_uc001fod.3_Missense_Mutation_p.R69W|TMEM79_uc009wrw.3_Missense_Mutation_p.R228W	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN	Homo sapiens transmembrane protein 79 (TMEM79), transcript variant 1, mRNA.	228						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					TGATGTCCCACGGCTGCCCAC	0.607													45	112					0	0	1	0	0	T	156255699	C	T	156255699	3	4	180	1	0	0	0	0	1	0	0	0	16200	527	19	1	684	1	TMEM79	1	156255699	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08	149767270	156255699	92994922	2	7800											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								10	31					0	0	1	0	0	T	209113112	C	T	209113112	3	4	180	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08		209113112	34086261	3	7801											
ZNF860	344787	broad.mit.edu	37	chr3	32031226	32031226	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccattcatcattactcacaCtaaaacaggaagtacacata	17	10	3	11	0	3	0	3	0	0	0	4	1	4	1	1	1	3	1	1	1	6	5			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr3:32031226C>G	uc011axg.2	+	1	1204	c.655C>G	c.(655-657)Cta>Gta	p.L219V	ZNF860_uc021wuv.1_Missense_Mutation_p.L219V	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN	Homo sapiens zinc finger protein 860 (ZNF860), mRNA.	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						ATTACTCACACTAAAACAGGA	0.333													7	34					0	0	1	0	0	G	32031226	C	G	32031226	3	3	180	1	0	0	0	0	1	0	0	0	18191	564	20	5	657	5	ZNF860	3	32031226	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08		32031226	165991204	4	7802											
CDV3	55573	broad.mit.edu	37	chr3	133292940	133292942	+	In_Frame_Del	DEL	AAG	AAG	-																															acttctttgccaagagggacAagaagaagaagaaggagcgg																										TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr3:133292940_133292942delAAG	uc003epq.3	+	0	507_509	c.52_54delAAG	c.(52-54)aagdel	p.K22del	CDV3_uc003epp.4_In_Frame_Del_p.K22del|CDV3_uc003epr.3_5'Flank	NM_017548	NP_060018	Q9UKY7	CDV3_HUMAN	Homo sapiens CDV3 homolog (mouse) (CDV3), transcript variant 2, mRNA.	22	Poly-Lys.				cell proliferation	cytoplasm				kidney(3)|lung(1)|prostate(1)	5						CAAGAGGGACAAGAAGAAGAAGA	0.744													2	4	---	---	---	---						-	133292942	AAG	-	133292940	7	5	180	1	0	1	0	1	0	0	0	0	3181	131	5	0	54	0	CDV3	3	133292940	In_Frame_Del	DEL	AAG	TCGA-HT-7603-01A-21D-2086-08	101261714	133292940	64729490	5	7803											
CHRNA6	8973	broad.mit.edu	37	chr8	42620342	42620342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcagttgcacagcccaCacagcctgtgaggccaaaca	11	6	8	16	0	1	1	1	1	0	0	2	1	2	1	4	1	4	2	4	1	1	1			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr8:42620342C>T	uc003xpj.3	-	1	441	c.85G>A	c.(85-87)Gtg>Atg	p.V29M	CHRNA6_uc011lcw.2_Missense_Mutation_p.V29M	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 6 (CHRNA6), transcript variant 1, mRNA.	29						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GCACAGCCCACACAGCCTGTG	0.562													25	66					0	0	1	0	0	T	42620342	C	T	42620342	3	4	180	1	0	0	0	0	1	0	0	0	3387	478	17	3	1419	3	CHRNA6	8	42620342	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08		42620342	103743680	6	7804											
EEF1D	1936	broad.mit.edu	37	chr8	144668979	144668979	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcatatttgaacttgtcgaAccagatcttctcatgtgcta	10	15	7	9	1	3	2	2	1	2	1	5	3	3	2	1	0	3	1	1	0	4	5			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr8:144668979A>C	uc003yyq.2	-	1	1514	c.1285T>G	c.(1285-1287)Ttc>Gtc	p.F429V	EEF1D_uc003yyp.2_Missense_Mutation_p.F379V|EEF1D_uc011lki.2_Missense_Mutation_p.F13V|EEF1D_uc003yyv.3_Missense_Mutation_p.F13V|EEF1D_uc003yyu.3_Missense_Mutation_p.F13V|EEF1D_uc011lkk.2_Missense_Mutation_p.F13V|EEF1D_uc003yyt.3_Missense_Mutation_p.F379V|EEF1D_uc003yyr.3_Missense_Mutation_p.F379V|EEF1D_uc003yys.3_Missense_Mutation_p.F13V|EEF1D_uc011lkl.2_Missense_Mutation_p.F13V	NM_032378	NP_115754	P29692	EF1D_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) (EEF1D), transcript variant 1, mRNA.	13					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			AACTTGTCGAACCAGATCTTC	0.552													4	94					0	0	1	0	0	C	144668979	A	C	144668979	3	2	180	1	0	0	0	0	1	0	0	0	4926	43	2	5	836	5	EEF1D	8	144668979	Missense_Mutation	SNP	A	TCGA-HT-7603-01A-21D-2086-08	102048637	144668979	1695043	7	7805											
FNBP1	23048	broad.mit.edu	37	chr9	132757223	132757223	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgtgtgtgtttttctaaGttgtcaaactgatcctgttg	7	18	9	7	0	2	1	1	1	1	0	3	1	3	1	1	0	1	3	1	0	2	5			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr9:132757223G>C	uc004byw.1	-	1	258	c.39C>G	c.(37-39)aaC>aaG	p.N13K	FNBP1_uc011mbv.1_Missense_Mutation_p.N13K|FNBP1_uc011mbw.1_Missense_Mutation_p.N13K|FNBP1_uc004bza.2_Missense_Mutation_p.N13K|FNBP1_uc004byz.1_Missense_Mutation_p.N13K|FNBP1_uc004byx.1_5'UTR|FNBP1_uc004byy.1_5'UTR	NM_015033	NP_055848	Q96RU3	FNBP1_HUMAN	Homo sapiens formin binding protein 1 (FNBP1), mRNA.	13	FCH.|Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation.|Self-association, lipid-binding and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		GTTTTTCTAAGTTGTCAAACT	0.333			T	MLL	AML								23	82					0	0	1	0	0	C	132757223	G	C	132757223	3	2	180	1	0	0	0	0	1	0	0	0	5965	1020	36	5	1878	5	FNBP1	9	132757223	Missense_Mutation	SNP	G	TCGA-HT-7603-01A-21D-2086-08		132757223	8456208	8	7806											
RBP3	5949	broad.mit.edu	37	chr10	48390723	48390723	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcttgatggcctgctggAtggcttcctgcatgcccagc	4	11	13	13	0	1	1	0	1	1	0	2	2	2	2	3	4	4	4	3	4	0	2			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr10:48390723A>G	uc001jez.3	-	0	269	c.155T>C	c.(154-156)aTc>aCc	p.I52T		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	52	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGCCTGCTGGATGGCTTCCTG	0.597													9	37					0	0	1	0	0	G	48390723	A	G	48390723	3	3	180	1	0	0	0	0	1	0	0	0	13157	333	12	3	3604	3	RBP3	10	48390723	Missense_Mutation	SNP	A	TCGA-HT-7603-01A-21D-2086-08		48390723	87144024	9	7807											
SLC29A3	55315	broad.mit.edu	37	chr10	73122070	73122070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagggcccaatagcaaggCgctcccagggttcgtgctcc	7	6	13	15	2	0	0	0	0	0	0	3	0	2	0	4	3	2	4	4	3	3	2			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr10:73122070C>T	uc001jrr.4	+	5	1190	c.1133C>T	c.(1132-1134)gCg>gTg	p.A378V	SLC29A3_uc001jrs.4_3'UTR|SLC29A3_uc010qjq.2_Missense_Mutation_p.A232V|SLC29A3_uc001jrt.4_Missense_Mutation_p.A172V	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 3 (SLC29A3), transcript variant 1, mRNA.	378					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						AATAGCAAGGCGCTCCCAGGG	0.602													30	52					0	0	1	0	0	T	73122070	C	T	73122070	3	4	180	1	0	0	0	0	1	0	0	0	14536	768	27	1	1159	1	SLC29A3	10	73122070	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08	24731347	73122070	62412677	10	7808											
SFTPD	6441	broad.mit.edu	37	chr10	81706233	81706233	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacctgggtcccccttctcGccccgagggccctctctccc	2	9	8	22	2	2	0	0	0	2	0	6	1	4	0	7	2	1	0	7	2	1	2	rs148973610		TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr10:81706233G>A	uc001kbh.3	-	1	226	c.183C>T	c.(181-183)ggC>ggT	p.G61G		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	61	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			CCCCCTTCTCGCCCCGAGGGC	0.602													3	43					0	0	1	0	0	A	81706233	G	A	81706233	2	1	180	1	0	0	0	0	0	0	0	1	14193	1074	38	1		1	SFTPD	10	81706233	Silent	SNP	G	TCGA-HT-7603-01A-21D-2086-08	8584163	81706233	53828514	11	7809											
OR5P3	120066	broad.mit.edu	37	chr11	7847281	7847281	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaggaagctcatgagcatgAcaggtgtgactgatgaggag	12	9	15	5	0	1	5	1	5	0	0	1	7	1	7	0	3	2	2	0	3	2	1			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr11:7847281A>G	uc010rbg.2	-	0	239	c.239T>C	c.(238-240)gTc>gCc	p.V80A		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA.	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CATGAGCATGACAGGTGTGAC	0.478													10	33					0	0	1	0	0	G	7847281	A	G	7847281	3	3	180	1	0	0	0	0	1	0	0	0	11179	275	10	3	699	3	OR5P3	11	7847281	Missense_Mutation	SNP	A	TCGA-HT-7603-01A-21D-2086-08		7847281	127159235	12	7810			1	17		2	2	25	N	C_A	2.713426e-05
OR5P3	120066	broad.mit.edu	37	chr11	7847305	7847305	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtgactgatgaggagtacCcaatgtctacaaaggccaaa	14	8	11	8	0	1	3	0	3	1	0	1	4	1	4	2	2	2	1	2	2	5	2			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr11:7847305C>G	uc010rbg.2	-	0	215	c.215G>C	c.(214-216)gGg>gCg	p.G72A		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA.	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGAGGAGTACCCAATGTCTAC	0.438													11	37					0	0	1	0	0	G	7847305	C	G	7847305	3	3	180	1	0	0	0	0	1	0	0	0	11179	623	22	5	723	5	OR5P3	11	7847305	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08	24	7847305	127159211	13	7811			1	17		2	2	25	N	C_A	2.713426e-05
DAGLA	747	broad.mit.edu	37	chr11	61504739	61504739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctctccttccttctgcGcccacagtatccgaccctca	6	11	4	20	2	3	0	1	0	2	0	7	1	6	0	6	0	1	1	6	0	1	3			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr11:61504739G>A	uc001nsa.3	+	13	1573	c.1457G>A	c.(1456-1458)cGc>cAc	p.R486H		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	486					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	p.R486H(2)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TTCCTTCTGCGCCCACAGTAT	0.647													16	253					0	0	1	0	0	A	61504739	G	A	61504739	3	1	180	1	0	0	0	0	1	0	0	0	4226	1087	38	1	1507	1	DAGLA	11	61504739	Missense_Mutation	SNP	G	TCGA-HT-7603-01A-21D-2086-08	53657434	61504739	73501777	14	7812											
ODZ4	26011	broad.mit.edu	37	chr11	78380316	78380316	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcccgatgttgtcacaagcTatgtaaaactcatcaccact	12	11	6	12	1	3	0	3	0	0	0	4	1	4	0	2	0	2	3	2	0	4	3			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr11:78380316T>C	uc001ozl.4	-	31	7537	c.7074A>G	c.(7072-7074)atA>atG	p.I2358M	ODZ4_uc001ozk.4_Missense_Mutation_p.I583M	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2358					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						TGTCACAAGCTATGTAAAACT	0.483													4	85					0	0	1	0	0	C	78380316	T	C	78380316	3	2	180	1	0	0	0	0	1	0	0	0	10837	1512	53	4	1247	4	ODZ4	11	78380316	Missense_Mutation	SNP	T	TCGA-HT-7603-01A-21D-2086-08	16875577	78380316	56626200	15	7813											
C11orf82	220042	broad.mit.edu	37	chr11	82644345	82644345	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaagaaatgccttggggAcatatcaataacaacgtaac	17	9	8	7	1	1	2	1	1	0	1	1	3	1	3	1	2	4	1	1	2	7	5			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr11:82644345A>G	uc001ozt.3	+	5	2209	c.1965A>G	c.(1963-1965)ggA>ggG	p.G655G	C11orf82_uc010rsr.2_Silent_p.G354G|C11orf82_uc010rss.2_Silent_p.G354G|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	655					apoptosis|cell cycle arrest	cytoplasm|nucleus		p.W654L(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TGCCTTGGGGACATATCAATA	0.343													8	128					0	0	1	0	0	G	82644345	A	G	82644345	2	3	180	1	0	0	0	0	0	0	0	1	1665	262	10	3		3	C11orf82	11	82644345	Silent	SNP	A	TCGA-HT-7603-01A-21D-2086-08	4264029	82644345	52362171	16	7814											
CLSTN3	9746	broad.mit.edu	37	chr12	7302188	7302188	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatttctctggtgggggAtgacctggatcccgagcggg	7	10	16	8	2	1	2	0	2	1	0	3	5	2	4	2	5	1	0	2	5	1	1			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr12:7302188A>G	uc001qss.3	+	12	2718	c.2180A>G	c.(2179-2181)gAt>gGt	p.D727G	CLSTN3_uc001qsr.3_Missense_Mutation_p.D715G	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	715					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding	p.D715V(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CTGGTGGGGGATGACCTGGAT	0.567													4	36					0	0	1	0	0	G	7302188	A	G	7302188	3	3	180	1	0	0	0	0	1	0	0	0	3563	333	12	3	2198	3	CLSTN3	12	7302188	Missense_Mutation	SNP	A	TCGA-HT-7603-01A-21D-2086-08		7302188	126549707	17	7815											
TAOK3	51347	broad.mit.edu	37	chr12	118693346	118693346	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaatagatcggcaatctcTgggtccttcagcaccccttt	9	12	8	12	1	2	2	1	0	1	2	5	2	3	2	3	2	1	2	3	2	4	4			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr12:118693346T>C	uc001twx.3	-	2	322	c.27A>G	c.(25-27)ccA>ccG	p.P9P	TAOK3_uc001twy.4_Silent_p.P9P	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	Homo sapiens TAO kinase 3 (TAOK3), mRNA.	9					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGGCAATCTCTGGGTCCTTCA	0.398													10	97					0	0	1	0	0	C	118693346	T	C	118693346	2	2	180	1	0	0	0	0	0	0	0	1	15546	1567	55	4		4	TAOK3	12	118693346	Silent	SNP	T	TCGA-HT-7603-01A-21D-2086-08	111391158	118693346	15158549	18	7816											
RIMBP2	23504	broad.mit.edu	37	chr12	130898840	130898840	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctggagaaaggcggtctcGcccgtaatcgtctgcgagca	8	8	14	11	5	3	1	0	0	3	1	5	3	3	1	1	3	2	2	1	3	2	1			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr12:130898840G>A	uc001uil.2	-	13	2698	c.2482C>T	c.(2482-2484)Cga>Tga	p.R828*		NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	828						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AGGCGGTCTCGCCCGTAATCG	0.567													18	27					0	0	1	0	0	A	130898840	G	A	130898840	4	1	180	1	0	0	0	0	0	1	0	0	13363	1095	38	1	700	1	RIMBP2	12	130898840	Nonsense_Mutation	SNP	G	TCGA-HT-7603-01A-21D-2086-08	12205494	130898840	2953055	19	7817											
RCBTB2	1102	broad.mit.edu	37	chr13	49070412	49070412	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatagtttgttggcagagcTttttcaaacgattttctcta	9	18	8	6	1	2	2	1	1	1	1	3	3	2	2	0	1	2	4	0	1	3	8			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr13:49070412T>C	uc010tgg.2	-	12	1736	c.1445A>G	c.(1444-1446)aAg>aGg	p.K482R	RCBTB2_uc001vci.3_Missense_Mutation_p.K453R|RCBTB2_uc010tgh.2_Missense_Mutation_p.K203R|RCBTB2_uc001vch.3_Missense_Mutation_p.K477R|RCBTB2_uc001vcj.3_Missense_Mutation_p.K429R	NM_001268	NP_001259	O95199	RCBT2_HUMAN	Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 (RCBTB2), mRNA.	477							Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TTGGCAGAGCTTTTTCAAACG	0.463													8	46					0	0	1	0	0	C	49070412	T	C	49070412	3	2	180	1	0	0	0	0	1	0	0	0	13172	1609	56	4	233	4	RCBTB2	13	49070412	Missense_Mutation	SNP	T	TCGA-HT-7603-01A-21D-2086-08		49070412	66099466	20	7818											
FAM124A	220108	broad.mit.edu	37	chr13	51825995	51825995	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctttgggccatccggccCgtgcactacggcaaggaaat	8	7	12	14	4	0	0	0	0	0	0	1	1	1	1	4	4	2	3	4	4	3	2			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr13:51825995C>T	uc001vff.2	+	3	768	c.600C>T	c.(598-600)ccC>ccT	p.P200P	FAM124A_uc001vfe.3_Silent_p.P164P|FAM124A_uc001vfg.2_Silent_p.P164P	NM_145019	NP_659456	Q86V42	F124A_HUMAN	Homo sapiens family with sequence similarity 124A (FAM124A), transcript variant 1, mRNA.	164										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CCATCCGGCCCGTGCACTACG	0.632													4	6					0	0	1	0	0	T	51825995	C	T	51825995	2	4	180	1	0	0	0	0	0	0	0	1	5425	639	23	2		2	FAM124A	13	51825995	Silent	SNP	C	TCGA-HT-7603-01A-21D-2086-08	2755583	51825995	63343883	21	7819											
TNRC6A	27327	broad.mit.edu	37	chr16	24788378	24788378	+	Missense_Mutation	SNP	G	G	T																															gccaacaatcagcagccacaGcagcagcagcaacagcagca																										TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr16:24788378G>T	uc002dmm.3	+	4	402	c.288G>T	c.(286-288)caG>caT	p.Q96H	TNRC6A_uc010bxs.3_5'UTR	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	96	Gln-rich.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		agcagccacagcagcagcagc	0.597													11	23					5.50884e-06	5.89317e-06	1	1	0	T	24788378	G	T	24788378	3	4	180	1	0	0	0	0	1	0	0	0	16337	962	34	5	306	5	TNRC6A	16	24788378	Missense_Mutation	SNP	G	TCGA-HT-7603-01A-21D-2086-08		24788378	65566375	22	7820	31	2									
TNRC6A	27327	broad.mit.edu	37	chr16	24788379	24788379	+	Nonsense_Mutation	SNP	C	C	T																															ccaacaatcagcagccacagCagcagcagcaacagcagcag																										TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr16:24788379C>T	uc002dmm.3	+	4	403	c.289C>T	c.(289-291)Cag>Tag	p.Q97*	TNRC6A_uc010bxs.3_5'UTR	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	97	Gln-rich.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		gcagccacagcagcagcagca	0.602													11	22					0	0	1	0	0	T	24788379	C	T	24788379	4	4	180	1	0	0	0	0	0	1	0	0	16337	711	25	3	307	3	TNRC6A	16	24788379	Nonsense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08	1	24788379	65566374	23	7821	31	2									
SALL1	6299	broad.mit.edu	37	chr16	51171049	51171049	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtgacgatctccttgctgtCctccacgaagcgggtgaagc	7	9	12	13	4	1	2	0	2	1	0	4	4	3	2	3	1	3	1	3	1	2	1			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr16:51171049C>A	uc021tif.1	-	2	3980	c.3658G>T	c.(3658-3660)Gac>Tac	p.D1220Y	SALL1_uc021tid.1_3'UTR|SALL1_uc021tie.1_3'UTR|SALL1_uc010cbv.3_Missense_Mutation_p.D169Y	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	1317					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCCTTGCTGTCCTCCACGAAG	0.567													14	35					3.45872e-05	3.61593e-05	1	1	0	A	51171049	C	A	51171049	3	1	180	1	0	0	0	0	1	0	0	0	13810	855	30	5	29	5	SALL1	16	51171049	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08	26382670	51171049	39183704	24	7822											
ACD	65057	broad.mit.edu	37	chr16	67694142	67694142	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccccacggctacacccagCggatgcaacgggcccgggtt	8	5	12	16	4	0	0	0	0	0	0	1	1	1	1	4	4	4	3	4	4	2	2			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr16:67694142C>T	uc002etq.4	-	0	577	c.240G>A	c.(238-240)ccG>ccA	p.P80P	ACD_uc002etp.4_Silent_p.P80P|ACD_uc002etr.4_Silent_p.P80P|ACD_uc010vjt.1_Silent_p.P70P|PARD6A_uc002ett.3_5'Flank|PARD6A_uc002ets.3_5'Flank	NM_001082486	NP_001075955	Q96AP0	ACD_HUMAN	Homo sapiens adrenocortical dysplasia homolog (mouse) (ACD), transcript variant 1, mRNA.	80					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CTACACCCAGCGGATGCAACG	0.706													3	44					0	0	1	0	0	T	67694142	C	T	67694142	2	4	180	1	0	0	0	0	0	0	0	1	135	755	27	1		1	ACD	16	67694142	Silent	SNP	C	TCGA-HT-7603-01A-21D-2086-08	16523093	67694142	22660611	25	7823											
CIRH1A	84916	broad.mit.edu	37	chr16	69199373	69199373	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagttttcatcccaagagaCcgatgcacatccttctccat	10	12	5	14	1	3	1	2	0	1	1	6	3	5	1	4	0	1	2	4	0	1	3			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr16:69199373C>G	uc002ews.4	+	14	1873	c.1777C>G	c.(1777-1779)Ccg>Gcg	p.P593A	CIRH1A_uc002ewr.2_Missense_Mutation_p.P593A|CIRH1A_uc002ewt.4_Missense_Mutation_p.P510A|CIRH1A_uc010cfi.3_Missense_Mutation_p.P395A	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN	Homo sapiens cirrhosis, autosomal recessive 1A (cirhin) (CIRH1A), mRNA.	593						nucleolus	protein binding	p.P593L(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		TCCCAAGAGACCGATGCACAT	0.463													11	37					0	0	1	0	0	G	69199373	C	G	69199373	3	3	180	1	0	0	0	0	1	0	0	0	3434	507	18	5	1831	5	CIRH1A	16	69199373	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08	1505231	69199373	21155380	26	7824											
KIAA0664	23277	broad.mit.edu	37	chr17	2605307	2605307	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggctcttgagcaggtctcGgacatggcgcacgtggatgc	7	8	15	11	3	2	1	0	1	2	0	3	3	2	3	0	5	2	3	0	5	0	1			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr17:2605307G>A	uc002fuy.1	-	3	492	c.406C>T	c.(406-408)Cga>Tga	p.R136*	KIAA0664_uc002fux.1_Nonsense_Mutation_p.R68*	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	136							binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						AGCAGGTCTCGGACATGGCGC	0.627													11	16					0	0	1	0	0	A	2605307	G	A	2605307	4	1	180	1	0	0	0	0	0	1	0	0	8189	1124	39	2	3615	2	KIAA0664	17	2605307	Nonsense_Mutation	SNP	G	TCGA-HT-7603-01A-21D-2086-08		2605307	78589903	27	7825											
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	7	9	12	13	2	1	0	1	0	0	0	2	2	2	1	4	3	4	3	4	3	2	2	rs28934575		TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr17:7577548C>T	uc002gim.2	-	6	927	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.3_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S|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.	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(600)|p.G245C(110)|p.G245D(99)|p.G245V(58)|p.G244D(42)|p.G244C(37)|p.G244S(37)|p.G245R(20)|p.G244V(14)|p.G244G(13)|p.G244A(9)|p.G245A(8)|p.G152S(8)|p.0?(8)|p.G245fs*2(5)|p.G244fs*3(5)|p.?(5)|p.G245N(4)|p.G244_M246>V(4)|p.G152C(4)|p.G244R(4)|p.G245G(3)|p.G245H(2)|p.G245L(2)|p.G244fs*17(2)|p.G245F(2)|p.C242_M246>L(2)|p.C238_M246delCNSSCMGGM(2)|p.G245fs*22(2)|p.S241_G245delSCMGG(2)|p.G245del(2)|p.G245fs*14(2)|p.G245fs*17(2)|p.G245fs*16(2)|p.G244_M246del(1)|p.G245E(1)|p.G244fs*4(1)|p.G244fs*19(1)|p.C242fs*98(1)|p.G244del(1)|p.M243fs*18(1)|p.M243_G244>IC(1)|p.G244E(1)|p.G151_M153>V(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)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)			27	18					0	0	1	0	0	T	7577548	C	T	7577548	3	4	180	1	0	0	0	0	1	0	0	0	16378	652	23	2	557	2	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08	4972241	7577548	73617662	28	7826											
DSG2	1829	broad.mit.edu	37	chr18	29126613	29126613	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggccctctgccagatttTggtttagaggaatctggtca	7	13	11	10	0	3	2	1	0	2	2	3	3	3	3	3	4	1	1	3	4	2	4			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr18:29126613T>C	uc002kwu.4	+	14	3452	c.3264T>C	c.(3262-3264)ttT>ttC	p.F1088F	LOC100652770_uc002kwv.4_Intron	NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	1088					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TGCCAGATTTTGGTTTAGAGG	0.473													6	49					0	0	1	0	0	C	29126613	T	C	29126613	2	2	180	1	0	0	0	0	0	0	0	1	4777	1809	63	3		3	DSG2	18	29126613	Silent	SNP	T	TCGA-HT-7603-01A-21D-2086-08		29126613	48950635	29	7827											
GADD45GIP1	90480	broad.mit.edu	37	chr19	13065170	13065170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctggagcagctcctggaagCgggcactccttgggtccacc	6	7	13	15	1	0	0	0	0	0	0	3	2	3	2	5	4	3	3	5	4	1	1			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr19:13065170C>T	uc002mwb.3	-	1	545	c.521G>A	c.(520-522)cGc>cAc	p.R174H		NM_052850	NP_443082	Q8TAE8	G45IP_HUMAN	Homo sapiens growth arrest and DNA-damage-inducible, gamma interacting protein 1 (GADD45GIP1), mRNA.	174					cell cycle|interspecies interaction between organisms	nucleus	protein binding			ovary(2)|prostate(1)|skin(1)	4						CTCCTGGAAGCGGGCACTCCT	0.622													17	31					0	0	1	0	0	T	13065170	C	T	13065170	3	4	180	1	0	0	0	0	1	0	0	0	6184	768	27	1	151	1	GADD45GIP1	19	13065170	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08		13065170	46063813	30	7828											
EMR2	30817	broad.mit.edu	37	chr19	14876167	14876167	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccaagcctggcttgtagtCtctgcccaggtcctggactt	5	11	12	13	0	1	0	0	0	1	0	3	1	2	1	4	4	2	2	4	4	2	3			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr19:14876167C>G	uc002mzp.1	-	9	1327	c.871G>C	c.(871-873)Gac>Cac	p.D291H	EMR2_uc010dzs.1_5'UTR|EMR2_uc010xnw.1_Missense_Mutation_p.D291H|EMR2_uc002mzo.1_Missense_Mutation_p.D291H|EMR2_uc002mzq.1_Missense_Mutation_p.D242H|EMR2_uc002mzr.1_Missense_Mutation_p.D242H|EMR2_uc002mzs.1_Missense_Mutation_p.D149H|EMR2_uc002mzt.1_Missense_Mutation_p.D198H|EMR2_uc002mzu.1_Missense_Mutation_p.D198H|EMR2_uc010xnx.1_Non-coding_Transcript|EMR2_uc010xny.1_Non-coding_Transcript	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 2 (EMR2), transcript variant 1, mRNA.	291					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GGCTTGTAGTCTCTGCCCAGG	0.602													5	91					0	0	1	0	0	G	14876167	C	G	14876167	3	3	180	1	0	0	0	0	1	0	0	0	5105	913	32	5	1648	5	EMR2	19	14876167	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08	1810997	14876167	44252816	31	7829											
UBA2	10054	broad.mit.edu	37	chr19	34929585	34929585	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatgagtgtcatcctaagccGacccagagaacctttcctgg	10	10	9	12	1	1	2	1	1	0	1	3	4	3	2	5	1	2	0	5	1	3	3			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr19:34929585G>A	uc002nvk.3	+	5	565	c.495G>A	c.(493-495)ccG>ccA	p.P165P	UBA2_uc010xrx.1_Silent_p.P38P|UBA2_uc002nvl.3_Silent_p.P69P	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 2 (UBA2), mRNA.	165					protein sumoylation	nucleus	ATP binding|SUMO activating enzyme activity|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			ATCCTAAGCCGACCCAGAGAA	0.403													27	83					0	0	1	0	0	A	34929585	G	A	34929585	2	1	180	1	0	0	0	0	0	0	0	1	16825	1045	37	2		2	UBA2	19	34929585	Silent	SNP	G	TCGA-HT-7603-01A-21D-2086-08	20053418	34929585	24199398	32	7830											
KIF3B	9371	broad.mit.edu	37	chr20	30897692	30897692	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtggatgtggatgttaagCtggggcaggtgtctgtgaag	7	12	19	3	0	1	1	0	1	1	0	1	3	1	3	0	6	1	3	0	6	2	1			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr20:30897692C>A	uc002wxq.3	+	1	292	c.112C>A	c.(112-114)Ctg>Atg	p.L38M	KIF3B_uc010ztv.2_Missense_Mutation_p.L38M|KIF3B_uc010ztw.2_Missense_Mutation_p.L38M	NM_004798	NP_004789	O15066	KIF3B_HUMAN	Homo sapiens kinesin family member 3B (KIF3B), mRNA.	38	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|Rho GTPase binding|plus-end-directed microtubule motor activity			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGATGTTAAGCTGGGGCAGGT	0.522													3	36					1	1	1	1	0	A	30897692	C	A	30897692	3	1	180	1	0	0	0	0	1	0	0	0	8301	796	28	5	114	5	KIF3B	20	30897692	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08		30897692	32127828	33	7831											
ATRX	546	broad.mit.edu	37	chrX	76909629	76909629	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgaaccttaatacgtcGccttttctttttctgtttat	6	22	4	9	2	3	1	0	1	3	0	4	1	3	1	2	0	2	1	2	0	4	10			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chrX:76909629G>A	uc004ecp.4	-	13	4508	c.4276C>T	c.(4276-4278)Cga>Tga	p.R1426*	ATRX_uc004ecq.4_Nonsense_Mutation_p.R1388*|ATRX_uc004eco.4_Nonsense_Mutation_p.R1211*|ATRX_uc004ecr.2_Nonsense_Mutation_p.R1358*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1426					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.R1426*(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTAATACGTCGCCTTTTCTTT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						22	20					0	0	1	0	0	A	76909629	G	A	76909629	4	1	180	1	0	0	0	0	0	1	0	0	1208	1095	38	1	3290	1	ATRX	23	76909629	Nonsense_Mutation	SNP	G	TCGA-HT-7603-01A-21D-2086-08		76909629	78360931	34	7832											
RAP2C	57826	broad.mit.edu	37	chrX	131351245	131351245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaaactgcacagtaagggCagatttgccaacccctccac	13	6	8	14	0	0	1	0	0	0	1	1	2	1	1	4	1	4	3	4	1	3	2			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chrX:131351245C>T	uc004ewp.3	-	1	836	c.52G>A	c.(52-54)Gcc>Acc	p.A18T	AK095439_uc004ewr.1_5'Flank|RAP2C_uc004ewo.3_Intron|RAP2C_uc010nrk.3_Intron|RAP2C_uc004ewq.4_Missense_Mutation_p.A18T	NM_021183	NP_067006	Q9Y3L5	RAP2C_HUMAN	Homo sapiens RAP2C, member of RAS oncogene family (RAP2C), mRNA.	18					Rap protein signal transduction|negative regulation of cell migration|positive regulation of protein autophosphorylation|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					ACAGTAAGGGCAGATTTGCCA	0.507													6	147					0	0	1	0	0	T	131351245	C	T	131351245	3	4	180	1	0	0	0	0	1	0	0	0	13042	710	25	3	507	3	RAP2C	23	131351245	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08	54441616	131351245	23919315	35	7833											
UTY	7404	broad.mit.edu	37	chrY	15410959	15410959	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaataaatctatacacagggAcatttgcttcataaagatct	16	12	6	7	0	3	1	1	0	2	1	3	3	3	2	0	1	2	1	0	1	7	6			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chrY:15410959A>G	uc022ckf.1	-	25	4751	c.3746T>C	c.(3745-3747)gTc>gCc	p.V1249A	UTY_uc004fsw.1_Missense_Mutation_p.V815A|UTY_uc022cjk.1_Missense_Mutation_p.V875A|UTY_uc022cjp.1_Missense_Mutation_p.V900A|UTY_uc022ckv.1_Missense_Mutation_p.V1168A|UTY_uc022cjq.1_Missense_Mutation_p.V593A|UTY_uc022ckw.1_Missense_Mutation_p.V1181A|UTY_uc022cjr.1_Missense_Mutation_p.V1012A|UTY_uc022ckx.1_Missense_Mutation_p.V1152A|UTY_uc022cjs.1_Missense_Mutation_p.V1136A|UTY_uc022cky.1_Missense_Mutation_p.V980A|UTY_uc022cjt.1_Missense_Mutation_p.V900A|UTY_uc022ckz.1_Missense_Mutation_p.V985A|UTY_uc022cju.1_Non-coding_Transcript|UTY_uc022cla.1_Missense_Mutation_p.V588A|UTY_uc022cjv.1_Missense_Mutation_p.V1069A|UTY_uc022clb.1_Missense_Mutation_p.V821A|UTY_uc022cjw.1_Missense_Mutation_p.V1194A|UTY_uc022cjx.1_Missense_Mutation_p.V1125A|UTY_uc022cjy.1_Missense_Mutation_p.V634A|UTY_uc022cjz.1_Missense_Mutation_p.V1073A|UTY_uc022cka.1_Intron|UTY_uc022ckb.1_Intron|UTY_uc022ckc.1_Intron|UTY_uc022ckd.1_Missense_Mutation_p.V697A|UTY_uc022cke.1_Non-coding_Transcript|UTY_uc022ckg.1_Missense_Mutation_p.V1197A|UTY_uc022ckh.1_Missense_Mutation_p.V900A|UTY_uc022cki.1_Missense_Mutation_p.V1182A|UTY_uc022ckj.1_Missense_Mutation_p.V1204A|UTY_uc022ckk.1_Missense_Mutation_p.V1028A|UTY_uc022ckl.1_Missense_Mutation_p.V588A|UTY_uc022ckm.1_Missense_Mutation_p.V1103A|UTY_uc022ckn.1_Missense_Mutation_p.V1168A|UTY_uc022cko.1_Missense_Mutation_p.V1073A|UTY_uc022ckp.1_Missense_Mutation_p.V1073A|UTY_uc004fsx.1_Missense_Mutation_p.V1152A|UTY_uc022ckq.1_Missense_Mutation_p.V1197A|UTY_uc022cjl.1_Missense_Mutation_p.V697A|UTY_uc022ckr.1_Missense_Mutation_p.V798A|UTY_uc022cjm.1_Missense_Mutation_p.V1172A|UTY_uc022cks.1_Missense_Mutation_p.V1028A|UTY_uc022cjn.1_Missense_Mutation_p.V821A|UTY_uc022ckt.1_Missense_Mutation_p.V1152A|UTY_uc022cjo.1_Missense_Mutation_p.V940A|UTY_uc022cku.1_Missense_Mutation_p.V900A|UTY_uc022clc.1_Missense_Mutation_p.V1182A|UTY_uc022cld.1_Missense_Mutation_p.V1044A|UTY_uc022cle.1_Missense_Mutation_p.V969A|UTY_uc022clf.1_Missense_Mutation_p.V1028A|UTY_uc022clg.1_Missense_Mutation_p.V900A|UTY_uc022clh.1_Missense_Mutation_p.V1119A|UTY_uc022cli.1_Missense_Mutation_p.V1168A|UTY_uc022clj.1_Missense_Mutation_p.V916A|UTY_uc022clk.1_Missense_Mutation_p.V688A|UTY_uc022cll.1_Missense_Mutation_p.V953A|UTY_uc022clm.1_Missense_Mutation_p.V804A|UTY_uc022cln.1_Missense_Mutation_p.V940A|UTY_uc022clo.1_Missense_Mutation_p.V1127A|UTY_uc022clp.1_Missense_Mutation_p.V980A|UTY_uc022clq.1_Missense_Mutation_p.V1122A|UTY_uc004fsy.3_Missense_Mutation_p.V1152A|UTY_uc022clr.1_Missense_Mutation_p.V900A|UTY_uc022cls.1_Missense_Mutation_p.V1181A|UTY_uc022clt.1_Missense_Mutation_p.V900A|UTY_uc022clu.1_Missense_Mutation_p.V1136A|UTY_uc022clv.1_Missense_Mutation_p.V945A|UTY_uc022clw.1_Missense_Mutation_p.V1227A|UTY_uc022clx.1_Missense_Mutation_p.V1249A|UTY_uc022cly.1_Missense_Mutation_p.V1197A|UTY_uc022clz.1_Missense_Mutation_p.V900A|UTY_uc022cjj.1_Missense_Mutation_p.V70A	NM_007125	NP_009056	O14607	UTY_HUMAN	Homo sapiens ubiquitously transcribed tetratricopeptide repeat gene, Y-linked (UTY), transcript variant 3, mRNA.	1152					chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(6)	7						ATACACAGGGACATTTGCTTC	0.383													15	7					0	0	1	0	0	G	15410959	A	G	15410959	3	3	180	1	0	0	0	0	1	0	0	0	17104	275	10	3	612	3	UTY	24	15410959	Missense_Mutation	SNP	A	TCGA-HT-7603-01A-21D-2086-08		15410959	43962607	36	7834											
VPS13D	55187	broad.mit.edu	37	chr1	12439544	12439544	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtattccgttttccagatAcgagccactgatgctgagaa	10	12	10	9	2	0	3	0	2	0	2	2	5	2	3	3	0	3	3	3	0	3	5			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr1:12439544A>G	uc001atv.3	+	56	11225	c.11084A>G	c.(11083-11085)tAc>tGc	p.Y3695C	VPS13D_uc001atw.3_Missense_Mutation_p.Y3670C|VPS13D_uc001atx.3_Missense_Mutation_p.Y2882C|VPS13D_uc009vnl.3_Non-coding_Transcript	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	3694					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTTTCCAGATACGAGCCACTG	0.498													36	53					0	0	1	0	0	G	12439544	A	G	12439544	3	3	181	1	0	0	0	0	1	0	0	0	17189	391	14	3	11306	3	VPS13D	1	12439544	Missense_Mutation	SNP	A	TCGA-HT-7604-01A-11D-2086-08		12439544	236811077	1	7835											
ADAR	103	broad.mit.edu	37	chr1	154574313	154574313	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgggtctgagtttggggAtccttggctatgactgtctg	5	14	14	8	0	2	2	0	2	2	0	3	3	3	3	2	4	0	2	2	4	1	3			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr1:154574313A>C	uc001ffh.3	-	1	1047	c.805T>G	c.(805-807)Tcc>Gcc	p.S269A	ADAR_uc021pag.1_5'UTR|ADAR_uc001ffj.3_Missense_Mutation_p.S269A|ADAR_uc001ffi.3_Missense_Mutation_p.S269A|ADAR_uc001ffk.3_5'UTR|ADAR_uc001ffl.1_5'UTR	NM_001111	NP_001180424	P55265	DSRAD_HUMAN	Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA.	269					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GAGTTTGGGGATCCTTGGCTA	0.488													4	188					0	0	1	0	0	C	154574313	A	C	154574313	3	2	181	1	0	0	0	0	1	0	0	0	281	333	12	5	2931	5	ADAR	1	154574313	Missense_Mutation	SNP	A	TCGA-HT-7604-01A-11D-2086-08	142134769	154574313	94676308	2	7836											
FASLG	356	broad.mit.edu	37	chr1	172634805	172634805	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctggaatgggaagacacCtatggaattgtcctgctttc	9	12	10	10	0	1	1	0	0	1	1	3	4	2	4	3	3	1	1	3	3	4	3	rs80358236		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr1:172634805C>A	uc001gis.3	+	3	652	c.495C>A	c.(493-495)acC>acA	p.T165T	FASLG_uc001git.3_3'UTR	NM_000639	NP_000630	P48023	TNFL6_HUMAN	Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA.	165					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						GGGAAGACACCTATGGAATTG	0.428													5	68					4.096e-09	4.22603e-09	1	1	0	A	172634805	C	A	172634805	2	1	181	1	0	0	0	0	0	0	0	1	5682	668	24	5		5	FASLG	1	172634805	Silent	SNP	C	TCGA-HT-7604-01A-11D-2086-08	18060492	172634805	76615816	3	7837											
APOB	338	broad.mit.edu	37	chr2	21230555	21230555	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctatcttccctgttaaccttAatggaaaacgaactttcaaa	14	13	4	10	1	2	0	1	0	1	0	3	2	3	1	2	1	3	1	2	1	7	5			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:21230555A>C	uc002red.3	-	25	9313	c.9185T>G	c.(9184-9186)tTa>tGa	p.L3062*		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3062					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGTTAACCTTAATGGAAAACG	0.408													4	63					0	0	1	0	0	C	21230555	A	C	21230555	4	2	181	1	0	0	0	0	0	1	0	0	785	372	13	5	4522	5	APOB	2	21230555	Nonsense_Mutation	SNP	A	TCGA-HT-7604-01A-11D-2086-08		21230555	221968818	4	7838											
TEKT4	150483	broad.mit.edu	37	chr2	95542422	95542422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggagaaggacattgccGccatgaccaacagtctcttc	10	8	10	13	1	1	2	0	1	1	1	3	4	1	3	4	2	2	0	4	2	2	2			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:95542422G>A	uc002stw.1	+	5	1309	c.1216G>A	c.(1216-1218)Gcc>Acc	p.A406T	LOC442028_uc021vlc.1_Intron|LOC442028_uc002stv.1_Intron|TEKT4_uc010fhr.1_Non-coding_Transcript	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	Homo sapiens tektin 4 (TEKT4), mRNA.	406					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.A406P(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GGACATTGCCGCCATGACCAA	0.592													18	34					0	0	1	0	0	A	95542422	G	A	95542422	3	1	181	1	0	0	0	0	1	0	0	0	15752	1087	38	1	1238	1	TEKT4	2	95542422	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	74311867	95542422	147656951	5	7839											
ZEB2	9839	broad.mit.edu	37	chr2	145147369	145147369	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcggtgggttccaagtgcccTttctcgcgcgcctcgcgctc	2	11	12	16	6	1	0	0	0	1	0	6	0	2	0	3	2	1	2	3	2	1	2			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:145147369T>C	uc002tvu.3	-	9	3816	c.3294A>G	c.(3292-3294)aaA>aaG	p.K1098K	ZEB2_uc010zbm.2_Silent_p.K1074K|ZEB2_uc002tvv.3_Silent_p.K1092K|ZEB2_uc010fnp.3_Intron	NM_014795	NP_055610	O60315	ZEB2_HUMAN	Homo sapiens zinc finger E-box binding homeobox 2 (ZEB2), transcript variant 1, mRNA.	1098	Glu-rich (acidic).					cytoplasm|nucleolus	SMAD binding|phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CCAAGTGCCCTTTCTCGCGCG	0.617													25	60					0	0	1	0	0	C	145147369	T	C	145147369	2	2	181	1	0	0	0	0	0	0	0	1	17621	1606	56	4		4	ZEB2	2	145147369	Silent	SNP	T	TCGA-HT-7604-01A-11D-2086-08	49604947	145147369	98052004	6	7840											
LRP2	4036	broad.mit.edu	37	chr2	170030513	170030513	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcgggatgcagcggccatTagcacaccgaaactggcccg	9	5	13	14	4	0	0	0	0	0	0	0	2	0	1	3	3	5	2	3	3	2	1			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:170030513T>C	uc002ues.3	-	55	11143	c.10930A>G	c.(10930-10932)Aat>Gat	p.N3644D		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3644	LDL-receptor class A 29.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAGCGGCCATTAGCACACCGA	0.542													33	45					0	0	1	0	0	C	170030513	T	C	170030513	3	2	181	1	0	0	0	0	1	0	0	0	8956	1754	61	3	3133	3	LRP2	2	170030513	Missense_Mutation	SNP	T	TCGA-HT-7604-01A-11D-2086-08	24883144	170030513	73168860	7	7841											
PPIG	9360	broad.mit.edu	37	chr2	170488410	170488410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaagctgatgagaaggaaaGgaaaaacagagagagagaaa	23	3	13	2	0	0	5	0	2	0	4	0	10	0	7	0	2	2	1	0	2	7	1			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:170488410G>A	uc002uez.3	+	10	1116	c.896G>A	c.(895-897)aGg>aAg	p.R299K	PPIG_uc010fpx.3_Missense_Mutation_p.R284K|PPIG_uc010fpy.3_Missense_Mutation_p.R292K|PPIG_uc002ufa.3_Missense_Mutation_p.R299K|PPIG_uc002ufb.3_Missense_Mutation_p.R299K|PPIG_uc002ufd.3_Missense_Mutation_p.R296K	NM_004792	NP_004783	Q13427	PPIG_HUMAN	Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA.	299					RNA splicing|protein folding	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	gagaaggaaaggaaaaacaga	0.373													14	16					0	0	1	0	0	A	170488410	G	A	170488410	3	1	181	1	0	0	0	0	1	0	0	0	12324	1000	35	3	930	3	PPIG	2	170488410	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	457897	170488410	72710963	8	7842											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:209113113G>T	uc002vcs.3	-	3	640	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_uc002vct.3_Missense_Mutation_p.R132S|IDH1_uc002vcu.3_Missense_Mutation_p.R132S	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								47	45					2.73361e-28	2.91287e-28	1	1	0	T	209113113	G	T	209113113	3	4	181	1	0	0	0	0	1	0	0	0	7494	1058	37	5	878	5	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	38624703	209113113	34086260	9	7843											
ZFAND2B	130617	broad.mit.edu	37	chr2	220072487	220072487	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtcgctctgatccagcaCagcaaaaacgtaaggtaaac	15	7	8	11	2	1	1	0	1	1	0	3	1	2	1	1	1	4	5	1	1	5	2			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:220072487C>G	uc002vka.3	+	2	440	c.268C>G	c.(268-270)Cag>Gag	p.Q90E	ZFAND2B_uc010zkt.2_Missense_Mutation_p.Q90E|ZFAND2B_uc010fwd.1_Missense_Mutation_p.Q90E|ZFAND2B_uc002vjz.1_Missense_Mutation_p.Q90E|ZFAND2B_uc002vkb.1_5'UTR	NM_138802	NP_620157	Q8WV99	ZFN2B_HUMAN	Homo sapiens zinc finger, AN1-type domain 2B (ZFAND2B), mRNA.	90						endoplasmic reticulum	protein binding|zinc ion binding			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGATCCAGCACAGCAAAAACG	0.557													10	82					0	0	1	0	0	G	220072487	C	G	220072487	3	3	181	1	0	0	0	0	1	0	0	0	17625	479	17	5	278	5	ZFAND2B	2	220072487	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08	10959374	220072487	23126886	10	7844											
OR5H1	26341	broad.mit.edu	37	chr3	97852349	97852349	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catctccgcaagcagatgatCaagatatggtggagcctcta	12	9	10	10	1	3	3	1	1	2	2	4	4	3	4	2	2	2	2	2	2	4	2			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr3:97852349C>G	uc011bgt.2	+	0	808	c.808C>G	c.(808-810)Caa>Gaa	p.Q270E		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						AGCAGATGATCAAGATATGGT	0.428													39	37					0	0	1	0	0	G	97852349	C	G	97852349	3	3	181	1	0	0	0	0	1	0	0	0	11159	827	29	5	810	5	OR5H1	3	97852349	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08		97852349	100170081	11	7845											
ACAD9	28976	broad.mit.edu	37	chr3	128628194	128628194	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcttggttaataggacagtgCcaacaagtttgaggagaaca	14	10	11	6	0	1	2	0	1	1	1	1	4	1	3	1	3	3	2	1	3	5	4			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr3:128628194C>G	uc003ela.4	+	14	1695	c.1493C>G	c.(1492-1494)gCc>gGc	p.A498G	ACAD9_uc011bks.2_Missense_Mutation_p.A375G|ACAD9_uc003elb.3_Missense_Mutation_p.A375G|ACAD9_uc003ele.3_Missense_Mutation_p.A150G	NM_014049	NP_054768	Q9H845	ACAD9_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 9 (ACAD9), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	498						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						TAGGACAGTGCCAACAAGTTT	0.587													41	86					0	0	1	0	0	G	128628194	C	G	128628194	3	3	181	1	0	0	0	0	1	0	0	0	111	739	26	5	1551	5	ACAD9	3	128628194	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08	30775845	128628194	69394236	12	7846											
AADACL2	344752	broad.mit.edu	37	chr3	151461908	151461908	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcttttgacttcctgaataGatggacggcaaacacgcttg	10	11	11	9	2	0	3	0	2	0	1	1	4	1	4	1	3	1	3	1	3	3	5			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr3:151461908G>C	uc003ezc.3	+	2	509	c.389G>C	c.(388-390)aGa>aCa	p.R130T	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_5'UTR	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	130						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTCCTGAATAGATGGACGGCA	0.358													41	58					0	0	1	0	0	C	151461908	G	C	151461908	3	2	181	1	0	0	0	0	1	0	0	0	11	942	33	5	399	5	AADACL2	3	151461908	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	22833714	151461908	46560522	13	7847											
GPBP1	65056	broad.mit.edu	37	chr5	56546841	56546841	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaagaaagggatataaacCgaaacttcgatgaaaatgaa	21	6	8	6	2	0	3	0	2	0	1	1	6	0	4	2	1	2	0	2	1	9	3			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr5:56546841C>T	uc003jrk.4	+	8	1111	c.1054C>T	c.(1054-1056)Cga>Tga	p.R352*	GPBP1_uc003jrh.4_Nonsense_Mutation_p.R345*|GPBP1_uc003jri.4_Nonsense_Mutation_p.R174*|GPBP1_uc003jrj.4_Nonsense_Mutation_p.R337*|GPBP1_uc021xyv.1_Nonsense_Mutation_p.R174*	NM_001127236	NP_001190175	Q86WP2	GPBP1_HUMAN	Homo sapiens GC-rich promoter binding protein 1 (GPBP1), transcript variant 2, mRNA.	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		GGATATAAACCGAAACTTCGA	0.353													15	29					0	0	1	0	0	T	56546841	C	T	56546841	4	4	181	1	0	0	0	0	0	1	0	0	6595	644	23	2	1088	2	GPBP1	5	56546841	Nonsense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08		56546841	124368419	14	7848											
PCDHGC5	56097	broad.mit.edu	37	chr5	140812212	140812212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgggcgaggtgcgcacggCgcgagccctgctggacagag	7	3	18	13	6	0	1	0	0	0	1	0	4	0	2	1	4	3	2	1	4	0	0			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr5:140812212C>T	uc003lkt.2	+	0	2055	c.1886C>T	c.(1885-1887)gCg>gTg	p.A629V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Missense_Mutation_p.A629V	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	631	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCGCACGGCGCGAGCCCTG	0.687													12	47					0	0	1	0	0	T	140812212	C	T	140812212	3	4	181	1	0	0	0	0	1	0	0	0	11571	768	27	1		1	PCDHGC5	5	140812212	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08	84265371	140812212	40103048	15	7849											
SLC44A4	80736	broad.mit.edu	37	chr6	31832672	31832674	+	In_Frame_Del	DEL	AAG	AAG	-																															ggatgcgaccggagaaaaaaAagaaggacaggacccctgtg																										TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:31832672_31832674delAAG	uc010jti.3	-	18	1911_1913	c.1845_1847delCTT	c.(1843-1848)ttcttt>ttt	p.615_616FF>F	NEU1_uc003nxq.4_5'Flank|SLC44A4_uc011dol.2_In_Frame_Del_p.539_540FF>F|SLC44A4_uc011dom.2_In_Frame_Del_p.573_574FF>F	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA.	615						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GGAGAAAAAAAAGAAGGACAGGA	0.567													8	17	---	---	---	---						-	31832674	AAG	-	31832672	7	5	181	1	0	1	0	1	0	0	0	0	14638	14	1	0	297	0	SLC44A4	6	31832672	In_Frame_Del	DEL	AAG	TCGA-HT-7604-01A-11D-2086-08		31832672	139282395	16	7850											
PBX2	5089	broad.mit.edu	37	chr6	32157564	32157564	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccctcggcctcccgggacCcccccgctacccccaccggg	3	5	9	24	4	0	0	0	0	0	0	3	1	2	1	9	3	1	1	9	3	1	2	rs151067717		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:32157564C>A	uc003oav.1	-	0	400	c.129G>T	c.(127-129)ggG>ggT	p.G43G	PBX2_uc003oaw.3_Silent_p.G43G	NM_002586	NP_002577	P40425	PBX2_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 2 (PBX2), mRNA.	43							transcription factor binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						CTCCCGGGACCCCCCCGCTAC	0.711													32	55					3.62531e-18	3.80073e-18	1	1	0	A	32157564	C	A	32157564	2	1	181	1	0	0	0	0	0	0	0	1	11493	610	22	5		5	PBX2	6	32157564	Silent	SNP	C	TCGA-HT-7604-01A-11D-2086-08	324892	32157564	138957503	17	7851											
HLA-DRB5	3127	broad.mit.edu	37	chr6	32557612	32557612	+	Splice_Site	DEL	G	G	-																															cacccacattccaagttataGggaggaagttactgatttcc																										TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:32557612delG	uc003obk.4	-	1	1	c.-93_splice	c.e1-1		HLA-DRB5_uc021yvx.1_Splice_Site|HLA-DRB5_uc003obp.4_Splice_Site	NM_002125	NP_002116	Q30154	DRB5_HUMAN	Homo sapiens major histocompatibility complex, class II, DR beta 5 (HLA-DRB5), mRNA.						antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						CCAAGTTATAGGGAGGAAGTT	0.507													3	5	---	---	---	---						-	32557612	G	-	32557612	8	5	181	1	0	1	0	1	0	0	1	0	7209	1015	35	0		0	HLA-DRB5	6	32557612	Splice_Site	DEL	G	TCGA-HT-7604-01A-11D-2086-08	400048	32557612	138557455	18	7852											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34827130	34827130	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcccccagctggcagggaGactgctgtgaatggacaggg	10	5	16	10	0	0	2	0	1	0	1	0	4	0	3	2	4	3	3	2	4	2	0	rs73419681	by1000genomes	TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:34827130G>A	uc003oju.4	+	13	3231	c.2997G>A	c.(2995-2997)gaG>gaA	p.E999E	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	999										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CTGGCAGGGAGACTGCTGTGA	0.552													30	48					0	0	1	0	0	A	34827130	G	A	34827130	2	1	181	1	0	0	0	0	0	0	0	1	16965	933	33	3		3	UHRF1BP1	6	34827130	Silent	SNP	G	TCGA-HT-7604-01A-11D-2086-08	2269518	34827130	136287937	19	7853											
KIF6	221458	broad.mit.edu	37	chr6	39513460	39513460	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aaaggatgttattagtttttCcagcctaaaaatacataatg	16	14	6	5	0	0	0	0	0	0	0	1	1	1	1	2	1	2	2	2	1	8	7			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:39513460C>G	uc003oot.2	-	10	1281	c.1186G>C	c.(1186-1188)Gaa>Caa	p.E396Q	KIF6_uc010jxa.1_Missense_Mutation_p.E187Q|KIF6_uc011dua.1_Missense_Mutation_p.E396Q|KIF6_uc010jxb.1_Missense_Mutation_p.E396Q	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	396					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ATTAGTTTTTCCAGCCTAAAA	0.338													3	57					0	0	1	0	0	G	39513460	C	G	39513460	3	3	181	1	0	0	0	0	1	0	0	0	8308	864	30	5	1310	5	KIF6	6	39513460	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08	4686330	39513460	131601607	20	7854											
CASP8AP2	9994	broad.mit.edu	37	chr6	90565237	90565237	+	Frame_Shift_Del	DEL	A	A	-																															tacaaatgaaagagctgatgAaaaaatttaaagaaatacag																										TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:90565237delA	uc003pnr.3	+	4	470	c.274delA	c.(274-276)aaafs	p.K92fs	CASP8AP2_uc003pns.2_Frame_Shift_Del_p.K92fs|CASP8AP2_uc003pnt.3_Frame_Shift_Del_p.K92fs|CASP8AP2_uc011dzz.2_Frame_Shift_Del_p.K92fs	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA.	92					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AGAGCTGATGAAAAAATTTAA	0.279													2	4	---	---	---	---						-	90565237	A	-	90565237	7	5	181	1	0	1	0	1	0	0	0	0	2678	247	9	0	288	0	CASP8AP2	6	90565237	Frame_Shift_Del	DEL	A	TCGA-HT-7604-01A-11D-2086-08	51051777	90565237	80549830	21	7855											
C6orf118	168090	broad.mit.edu	37	chr6	165715396	165715396	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctcctctgaagtgtgggAaagagaggcctgggggttca	9	9	15	8	0	2	2	1	1	1	1	4	4	4	3	3	4	0	1	3	4	2	1			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:165715396A>G	uc003qum.4	-	1	451	c.415T>C	c.(415-417)Tcc>Ccc	p.S139P	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	139										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GAAGTGTGGGAAAGAGAGGCC	0.627													17	103					0	0	1	0	0	G	165715396	A	G	165715396	3	3	181	1	0	0	0	0	1	0	0	0	2323	246	9	3	1026	3	C6orf118	6	165715396	Missense_Mutation	SNP	A	TCGA-HT-7604-01A-11D-2086-08	75150159	165715396	5399671	22	7856											
SDK1	221935	broad.mit.edu	37	chr7	4185446	4185446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaggcagttcacagccaccGacctggccccggagtccgca	8	5	12	16	3	1	1	1	1	0	0	2	3	2	2	6	3	1	3	6	3	0	1			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:4185446G>A	uc003smx.3	+	28	4460	c.4321G>A	c.(4321-4323)Gac>Aac	p.D1441N	SDK1_uc010kso.3_Missense_Mutation_p.D717N|SDK1_uc003smy.3_5'UTR	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1441	Fibronectin type-III 8.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CACAGCCACCGACCTGGCCCC	0.667													93	48					0	0	1	0	0	A	4185446	G	A	4185446	3	1	181	1	0	0	0	0	1	0	0	0	13968	1058	37	2	4435	2	SDK1	7	4185446	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08		4185446	154953217	23	7857											
PKD1L1	168507	broad.mit.edu	37	chr7	47897211	47897211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtcagcttgtacctgcccagGagcttggctccctggatatg	6	11	12	12	0	1	0	1	0	0	0	2	2	2	2	3	3	4	4	3	3	2	4			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:47897211G>A	uc003tny.2	-	27	4616	c.4582C>T	c.(4582-4584)Cct>Tct	p.P1528S		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1528	REJ.				cell-cell adhesion	integral to membrane		p.A1527A(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACCTGCCCAGGAGCTTGGCTC	0.493													14	15					0	0	1	0	0	A	47897211	G	A	47897211	3	1	181	1	0	0	0	0	1	0	0	0	11964	1174	41	3	4087	3	PKD1L1	7	47897211	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	43711765	47897211	111241452	24	7858											
PCLO	27445	broad.mit.edu	37	chr7	82580131	82580131	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcatagactgcagctccTccaactttttctgaaccatg	9	13	6	13	0	2	2	1	1	1	1	4	2	4	2	3	0	4	3	3	0	3	4			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:82580131T>C	uc003uhx.2	-	5	10062	c.9773A>G	c.(9772-9774)gAg>gGg	p.E3258G	PCLO_uc003uhv.2_Missense_Mutation_p.E3258G|PCLO_uc010lec.3_Missense_Mutation_p.E223G	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3189					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.L3257L(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGCAGCTCCTCCAACTTTTT	0.453													10	136					0	0	1	0	0	C	82580131	T	C	82580131	3	2	181	1	0	0	0	0	1	0	0	0	11583	1551	54	4	5752	4	PCLO	7	82580131	Missense_Mutation	SNP	T	TCGA-HT-7604-01A-11D-2086-08	34682920	82580131	76558532	25	7859											
ABCB1	5243	broad.mit.edu	37	chr7	87214993	87214993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcaagccaatttgaatagcGaaactaaaaagagagaaaaa	22	6	8	5	1	1	3	1	1	0	2	1	5	1	3	1	0	3	0	1	0	10	3			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:87214993G>A	uc003uiz.2	-	4	614	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	ABCB1_uc011khc.2_Missense_Mutation_p.R41C	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	41					G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.R41H(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTTGAATAGCGAAACTAAAAA	0.378													18	35					0	0	1	0	0	A	87214993	G	A	87214993	3	1	181	1	0	0	0	0	1	0	0	0	40	1058	37	2	3821	2	ABCB1	7	87214993	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	4634862	87214993	71923670	26	7860											
DOCK4	9732	broad.mit.edu	37	chr7	111617325	111617325	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggggtgtctttcttccgaTgtcgatgttccatctgaatg	5	15	11	10	3	3	1	0	1	3	0	6	3	5	1	3	2	0	1	3	2	1	3			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:111617325T>A	uc003vfy.3	-	7	832	c.563A>T	c.(562-564)cAt>cTt	p.H188L	DOCK4_uc003vfx.3_Missense_Mutation_p.H188L|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Missense_Mutation_p.H188L	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	188					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TTTCTTCCGATGTCGATGTTC	0.502													10	5					0	0	1	0	0	A	111617325	T	A	111617325	3	1	181	1	0	0	0	0	1	0	0	0	4689	1464	51	5	5517	5	DOCK4	7	111617325	Missense_Mutation	SNP	T	TCGA-HT-7604-01A-11D-2086-08	24402332	111617325	47521338	27	7861											
FOXP2	93986	broad.mit.edu	37	chr7	114270016	114270018	+	In_Frame_Del	DEL	CAG	CAG	-																															aacagcagcagcagcagcaaCagcagcagcagcagcaacag																										TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:114270016_114270018delCAG	uc003vhb.3	+	4	927_929	c.553_555delCAG	c.(553-555)cagdel	p.Q191del	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_In_Frame_Del_p.Q216del|FOXP2_uc003vha.3_In_Frame_Del_p.Q99del|FOXP2_uc011kmv.2_In_Frame_Del_p.Q191del|FOXP2_uc011kmu.2_In_Frame_Del_p.Q208del|FOXP2_uc010ljz.2_In_Frame_Del_p.Q99del|FOXP2_uc003vgt.2_Non-coding_Transcript|FOXP2_uc003vgv.1_In_Frame_Del_p.Q191del|FOXP2_uc003vgx.2_In_Frame_Del_p.Q191del|FOXP2_uc003vhc.3_In_Frame_Del_p.Q216del|FOXP2_uc003vhd.3_In_Frame_Del_p.Q191del	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	191	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						gcagcagcaacagcagcagcagc	0.507													7	70	---	---	---	---						-	114270018	CAG	-	114270016	7	5	181	1	0	1	0	1	0	0	0	0	6027	479	17	0	701	0	FOXP2	7	114270016	In_Frame_Del	DEL	CAG	TCGA-HT-7604-01A-11D-2086-08	2652691	114270016	44868647	28	7862											
SLC20A2	6575	broad.mit.edu	37	chr8	42297083	42297083	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttagccttggcacctggtagCtctttaaatactggggactc	8	13	10	10	0	1	0	0	0	1	0	2	1	1	1	2	4	3	3	2	4	5	6			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr8:42297083C>T	uc003xpe.3	-	6	1188	c.819G>A	c.(817-819)gaG>gaA	p.E273E	SLC20A2_uc010lxl.3_Silent_p.E273E|SLC20A2_uc010lxm.3_Silent_p.E273E|SLC20A2_uc011lcu.2_Silent_p.E75E	NM_006749	NP_006740	Q08357	S20A2_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 2 (SLC20A2), mRNA.	273					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CACCTGGTAGCTCTTTAAATA	0.517													103	140					0	0	1	0	0	T	42297083	C	T	42297083	2	4	181	1	0	0	0	0	0	0	0	1	14439	796	28	3		3	SLC20A2	8	42297083	Silent	SNP	C	TCGA-HT-7604-01A-11D-2086-08		42297083	104066939	29	7863											
GATA3	2625	broad.mit.edu	37	chr10	8100386	8100386	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagccccttctccaagacGtccatccaccacggctcccc	7	7	5	22	2	2	1	1	0	1	1	6	1	5	1	8	1	1	1	8	1	1	1			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr10:8100386G>A	uc001ijz.3	+	2	917	c.360G>A	c.(358-360)acG>acA	p.T120T	GATA3_uc001ika.3_Silent_p.T120T	NM_001002295	NP_001002295	P23771	GATA3_HUMAN	Homo sapiens GATA binding protein 3 (GATA3), transcript variant 1, mRNA.	120					T cell receptor signaling pathway|TOR signaling cascade|aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of T cell differentiation|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|transcription coactivator activity|transcription factor binding|zinc ion binding	p.T120T(2)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCTCCAAGACGTCCATCCACC	0.697			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"						75	117					0	0	1	0	0	A	8100386	G	A	8100386	2	1	181	1	0	0	0	0	0	0	0	1	6255	1132	40	1		1	GATA3	10	8100386	Silent	SNP	G	TCGA-HT-7604-01A-11D-2086-08		8100386	127434361	30	7864											
FRMD4A	55691	broad.mit.edu	37	chr10	13698931	13698931	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcgccctcgtcgccgccGccgccgcgccagctctcctt	1	8	11	21	8	1	0	0	0	1	0	5	0	1	0	7	0	1	1	7	0	0	1			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr10:13698931G>A	uc001ims.3	-	21	3010	c.2658C>T	c.(2656-2658)ggC>ggT	p.G886G	FRMD4A_uc009xjf.1_Silent_p.G886G	NM_018027	NP_060497	Q9P2Q2	FRM4A_HUMAN	Homo sapiens FERM domain containing 4A (FRMD4A), mRNA.	886						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CGTCGCCGCCGCCGCCGCGCC	0.716													4	8					0	0	1	0	0	A	13698931	G	A	13698931	2	1	181	1	0	0	0	0	0	0	0	1	6051	1074	38	1		1	FRMD4A	10	13698931	Silent	SNP	G	TCGA-HT-7604-01A-11D-2086-08	5598545	13698931	121835816	31	7865											
OR4X2	119764	broad.mit.edu	37	chr11	48267032	48267032	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caagcccctcagctacaccaCcatcatgaactggcaggtgt	11	7	8	15	0	2	1	2	1	0	0	2	1	2	1	4	2	4	2	4	2	3	1			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:48267032C>G	uc001ngs.1	+	0	377	c.377C>G	c.(376-378)aCc>aGc	p.T126S		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AGCTACACCACCATCATGAAC	0.498													6	87					0	0	1	0	0	G	48267032	C	G	48267032	3	3	181	1	0	0	0	0	1	0	0	0	11085	507	18	5	379	5	OR4X2	11	48267032	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08		48267032	86739484	32	7866											
CPSF7	79869	broad.mit.edu	37	chr11	61178544	61178544	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgctgctctcccgggaccgGctaggtgacctttcccggga	4	9	13	15	3	1	1	0	1	1	0	3	3	2	3	4	4	2	3	4	4	1	2			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:61178544G>A	uc001nrq.3	-	8	1421	c.1287C>T	c.(1285-1287)agC>agT	p.S429S	CPSF7_uc001nrp.3_Silent_p.S472S|CPSF7_uc001nrr.3_Silent_p.S420S	NM_001136040	NP_001129512	Q8N684	CPSF7_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 7, 59kDa (CPSF7), transcript variant 2, mRNA.	429	Arg-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	RNA binding|nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						CCCGGGACCGGCTAGGTGACC	0.502													46	68					0	0	1	0	0	A	61178544	G	A	61178544	2	1	181	1	0	0	0	0	0	0	0	1	3830	1194	42	3		3	CPSF7	11	61178544	Silent	SNP	G	TCGA-HT-7604-01A-11D-2086-08	12911512	61178544	73827972	33	7867											
FGF3	2248	broad.mit.edu	37	chr11	69631175	69631175	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatgcccacctccactgcCgttatctccaaaatacctag	12	9	4	16	1	1	0	0	0	1	0	3	0	2	0	6	0	3	1	6	0	6	3			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:69631175C>T	uc001oph.3	-	1	728	c.237G>A	c.(235-237)acG>acA	p.T79T		NM_005247	NP_005238	P11487	FGF3_HUMAN	Homo sapiens fibroblast growth factor 3 (FGF3), mRNA.	79					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity	p.T79T(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			CCTCCACTGCCGTTATCTCCA	0.622													4	95					0	0	1	0	0	T	69631175	C	T	69631175	2	4	181	1	0	0	0	0	0	0	0	1	5853	639	23	2		2	FGF3	11	69631175	Silent	SNP	C	TCGA-HT-7604-01A-11D-2086-08	8452631	69631175	65375341	34	7868											
TYR	7299	broad.mit.edu	37	chr11	88961080	88961080	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgaatggaacaatgtccCaggtacagggatctgccaac	14	8	10	9	0	1	1	0	1	1	0	2	3	2	3	2	3	4	1	2	3	6	2	rs61754389		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:88961080C>G	uc001pcs.3	+	2	1208	c.1126C>G	c.(1126-1128)Cag>Gag	p.Q376E		NM_000372	NP_000363	P14679	TYRO_HUMAN	Homo sapiens tyrosinase (oculocutaneous albinism IA) (TYR), mRNA.	376				TMSQVQ -> HVPGT (in Ref. 2; AAA61241).	eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	AACAATGTCCCAGGTACAGGG	0.413													15	103					0	0	1	0	0	G	88961080	C	G	88961080	3	3	181	1	0	0	0	0	1	0	0	0	16810	595	21	5	1136	5	TYR	11	88961080	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08	19329905	88961080	46045436	35	7869											
C11orf65	160140	broad.mit.edu	37	chr11	108256655	108256655	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaatcacctacctttgaagTtagccgaagagttgcttgta	13	12	8	8	1	1	2	1	1	0	1	1	3	1	2	3	0	3	4	3	0	7	6			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:108256655T>C	uc001pkh.3	-	7	849	c.779A>G	c.(778-780)aAc>aGc	p.N260S	C11orf65_uc010rvx.1_Missense_Mutation_p.N211S|C11orf65_uc009yxu.2_Non-coding_Transcript	NM_152587	NP_689800	Q8NCR3	CK065_HUMAN	Homo sapiens chromosome 11 open reading frame 65 (C11orf65), mRNA.	260										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		ACCTTTGAAGTTAGCCGAAGA	0.333													13	197					0	0	1	0	0	C	108256655	T	C	108256655	3	2	181	1	0	0	0	0	1	0	0	0	1655	1725	60	3	170	3	C11orf65	11	108256655	Missense_Mutation	SNP	T	TCGA-HT-7604-01A-11D-2086-08	19295575	108256655	26749861	36	7870											
NNMT	4837	broad.mit.edu	37	chr11	114182852	114182852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgactcagagccagccactgGgggccgtccccttacccccg	6	6	11	18	2	1	2	1	1	0	1	2	2	2	2	7	2	3	0	7	2	1	1			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:114182852G>A	uc001por.1	+	4	712	c.448G>A	c.(448-450)Ggg>Agg	p.G150R	NNMT_uc001pos.1_Missense_Mutation_p.G150R	NM_006169	NP_006160	P40261	NNMT_HUMAN	Homo sapiens nicotinamide N-methyltransferase (NNMT), mRNA.	150					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	CCAGCCACTGGGGGCCGTCCC	0.602													82	71					0	0	1	0	0	A	114182852	G	A	114182852	3	1	181	1	0	0	0	0	1	0	0	0	10509	1232	43	3	458	3	NNMT	11	114182852	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	5926197	114182852	20823664	37	7871											
H2AFX	3014	broad.mit.edu	37	chr11	118965808	118965809	+	Frame_Shift_Ins	INS	-	-	C																															cctgggcgatcgtcacgccgINScccagcagcttgttgagctc																										TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:118965808_118965809insC	uc001pvg.3	-	0	369_370	c.296_297insG	c.(295-297)ggcfs	p.G99fs		NM_002105	NP_002096	P16104	H2AX_HUMAN	Homo sapiens H2A histone family, member X (H2AFX), mRNA.	99					DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation	nucleoplasm|nucleosome	DNA binding|enzyme binding|histone binding			lung(3)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		TCGTCACGCCGCCCAGCAGCTT	0.693								Chromatin Structure			OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	73	191	---	---	---	---						C	118965809	-	C	118965808	7	5	181	1	0	1	1	0	0	0	0	0	6928	1074	38	0	138	0	H2AFX	11	118965808	Frame_Shift_Ins	INS	-	TCGA-HT-7604-01A-11D-2086-08	4782956	118965808	16040708	38	7872											
ITPR2	3709	broad.mit.edu	37	chr12	26985668	26985668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccgagccctccgcgtacaggGacacgatgtcccctatgtag	8	7	11	15	4	0	0	0	0	0	0	2	3	2	1	5	1	2	2	5	1	3	3			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr12:26985668G>A	uc001rhg.3	-	0	464	c.47C>T	c.(46-48)tCc>tTc	p.S16F	ITPR2_uc001rhh.1_5'UTR|ITPR2_uc001rhi.1_Missense_Mutation_p.S16F	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	16					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CGCGTACAGGGACACGATGTC	0.622													27	123					0	0	1	0	0	A	26985668	G	A	26985668	3	1	181	1	0	0	0	0	1	0	0	0	7921	1174	41	3	8286	3	ITPR2	12	26985668	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08		26985668	106866227	39	7873											
C12orf63	374467	broad.mit.edu	37	chr12	97151344	97151344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagccaaagataaaaatttCaggatcaccattaacactta	19	9	5	8	0	2	1	2	0	0	1	2	3	2	2	2	1	2	0	2	1	7	4			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr12:97151344C>T	uc021rcc.1	+	24	3371	c.3293C>T	c.(3292-3294)tCa>tTa	p.S1098L				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	1098								p.S1098*(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						ATAAAAATTTCAGGATCACCA	0.303													6	15					0	0	1	0	0	T	97151344	C	T	97151344	3	4	181	1	0	0	0	0	1	0	0	0	1706	838	29	3	3387	3	C12orf63	12	97151344	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08	70165676	97151344	36700551	40	7874											
IGDCC4	57722	broad.mit.edu	37	chr15	65684524	65684524	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgagccggacaggcccCacatcccaagcctggtctcc	7	8	9	17	1	2	1	0	1	2	0	4	2	3	2	6	3	2	0	6	3	1	2			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr15:65684524C>T	uc002aou.1	-	10	2280	c.2070G>A	c.(2068-2070)gtG>gtA	p.V690V	IGDCC4_uc002aot.1_Silent_p.V278V	NM_020962	NP_066013	Q8TDY8	IGDC4_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 4 (IGDCC4), mRNA.	690	Fibronectin type-III 3.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGACAGGCCCCACATCCCAAG	0.622													52	84					0	0	1	0	0	T	65684524	C	T	65684524	2	4	181	1	0	0	0	0	0	0	0	1	7569	581	21	3		3	IGDCC4	15	65684524	Silent	SNP	C	TCGA-HT-7604-01A-11D-2086-08		65684524	36846868	41	7875											
MGRN1	23295	broad.mit.edu	37	chr16	4732911	4732911	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctcccccactgggtggCgcagagctggccctgcggga	4	5	15	17	2	0	1	0	0	0	1	1	2	1	2	5	4	2	2	5	4	0	0			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr16:4732911C>T	uc002cxa.3	+	13	1583	c.1446C>T	c.(1444-1446)ggC>ggT	p.G482G	MGRN1_uc002cwz.3_Silent_p.G482G|MGRN1_uc010uxo.2_Silent_p.G460G|MGRN1_uc010uxp.2_Silent_p.G460G|MGRN1_uc010btw.3_Silent_p.G461G|MGRN1_uc010uxq.2_Non-coding_Transcript	NM_015246	NP_056061	O60291	MGRN1_HUMAN	Homo sapiens mahogunin, ring finger 1 (MGRN1), transcript variant 1, mRNA.	482					endosome to lysosome transport|negative regulation of G-protein coupled receptor protein signaling pathway|negative regulation of cAMP-mediated signaling|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CACTGGGTGGCGCAGAGCTGG	0.701													12	13					0	0	1	0	0	T	4732911	C	T	4732911	2	4	181	1	0	0	0	0	0	0	0	1	9559	755	27	1		1	MGRN1	16	4732911	Silent	SNP	C	TCGA-HT-7604-01A-11D-2086-08		4732911	85621842	42	7876											
IRF8	3394	broad.mit.edu	37	chr16	85952180	85952180	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagctggtgcgcttcccGccggccgacgccatccccag	4	6	13	18	5	0	0	0	0	0	0	2	2	2	1	6	3	2	2	6	3	0	1			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr16:85952180G>A	uc002fjh.3	+	6	816	c.759G>A	c.(757-759)ccG>ccA	p.P253P		NM_002163	NP_002154	Q02556	IRF8_HUMAN	Homo sapiens interferon regulatory factor 8 (IRF8), mRNA.	253					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				TGCGCTTCCCGCCGGCCGACG	0.741													14	5					0	0	1	0	0	A	85952180	G	A	85952180	2	1	181	1	0	0	0	0	0	0	0	1	7836	1074	38	1		1	IRF8	16	85952180	Silent	SNP	G	TCGA-HT-7604-01A-11D-2086-08	81219269	85952180	4402573	43	7877											
TP53	7157	broad.mit.edu	37	chr17	7577570	7577570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgcaggaactgttacaCatgtagttgtagtggatggt	10	12	12	7	0	0	0	0	0	0	0	0	2	0	2	1	3	3	5	1	3	4	4			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr17:7577570C>T	uc002gim.2	-	6	905	c.711G>A	c.(709-711)atG>atA	p.M237I	TP53_uc002gig.1_Missense_Mutation_p.M237I|TP53_uc002gih.3_Missense_Mutation_p.M237I|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.M105I|TP53_uc010cnf.1_Missense_Mutation_p.M105I|TP53_uc002gii.1_Missense_Mutation_p.M105I|TP53_uc010cni.1_Missense_Mutation_p.M237I|TP53_uc010cnh.1_Missense_Mutation_p.M237I|TP53_uc002gij.2_Missense_Mutation_p.M237I|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.M144I|TP53_uc002gio.2_Missense_Mutation_p.M105I|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	237	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.M237I(218)|p.Y236C(52)|p.Y236N(12)|p.Y236*(10)|p.Y236H(9)|p.M237K(9)|p.0?(8)|p.Y236D(7)|p.M237_N239delMCN(6)|p.M237V(6)|p.?(5)|p.M144I(4)|p.Y236del(4)|p.M237fs*10(4)|p.Y236S(3)|p.M237R(3)|p.M237L(3)|p.Y236_M243delYMCNSSCM(2)|p.M237_C238insX(2)|p.Y236Y(2)|p.M237fs*1(2)|p.Y236_M237delYM(2)|p.H233_C242del10(2)|p.M237T(2)|p.Y236fs*4(2)|p.C238fs*2(1)|p.V225fs*23(1)|p.Y236_M237>*L(1)|p.M144_N146delMCN(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M237insXX(1)|p.N235_Y236delNY(1)|p.Y236fs*5(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)		AACTGTTACACATGTAGTTGT	0.567		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)			35	51					0	0	1	0	0	T	7577570	C	T	7577570	3	4	181	1	0	0	0	0	1	0	0	0	16378	478	17	3	579	3	TP53	17	7577570	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08		7577570	73617640	44	7878											
TP53	7157	broad.mit.edu	37	chr17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcaaatttccttccactcGgataagatgctgaggagggg	11	9	12	9	2	0	2	0	1	0	1	3	4	2	4	2	4	1	2	2	4	2	3			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr17:7578263G>A	uc002gim.2	-	5	780	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.3_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.2_Nonsense_Mutation_p.R157*|DL476358_uc021tph.1_Non-coding_Transcript	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R196*(312)|p.I195T(67)|p.I195F(18)|p.R196P(14)|p.R64*(14)|p.R103*(14)|p.I195N(12)|p.R196fs*51(12)|p.R196R(8)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.I195S(6)|p.?(5)|p.P191_E198>Q(4)|p.I195fs*52(4)|p.I195fs*14(4)|p.R196Q(3)|p.I195fs*12(2)|p.I195fs*50(2)|p.I195_G199delIRVEG(2)|p.K164_P219del(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I195M(1)|p.R196L(1)|p.P98_E105>Q(1)|p.I195L(1)|p.H193_I195>AP(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)		CCTTCCACTCGGATAAGATGC	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	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)			24	38					0	0	1	0	0	A	7578263	G	A	7578263	4	1	181	1	0	0	0	0	0	1	0	0	16378	1124	39	2	708	2	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	693	7578263	73616947	45	7879											
CLUL1	27098	broad.mit.edu	37	chr18	618009	618009	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagcgggaacatgaagccGccactcttggtgtttattgt	10	11	11	9	2	1	1	0	1	1	0	1	2	1	2	2	2	4	1	2	2	4	4			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr18:618009G>A	uc010wys.2	+	3	399	c.165G>A	c.(163-165)ccG>ccA	p.P55P	CLUL1_uc002kkp.3_Silent_p.P3P|CLUL1_uc002kkq.3_Silent_p.P3P	NM_199167	NP_954636	Q15846	CLUL1_HUMAN	Homo sapiens clusterin-like 1 (retinal) (CLUL1), transcript variant 2, mRNA.	3					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						ACATGAAGCCGCCACTCTTGG	0.448													5	34					0	0	1	0	0	A	618009	G	A	618009	2	1	181	1	0	0	0	0	0	0	0	1	3570	1074	38	1		1	CLUL1	18	618009	Silent	SNP	G	TCGA-HT-7604-01A-11D-2086-08		618009	77459239	46	7880											
LIPG	9388	broad.mit.edu	37	chr18	47107968	47107968	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctacaatgccaagaaaaTgaggaacaagaggaacagca	19	4	11	7	0	0	3	0	1	0	2	0	5	0	5	1	3	5	2	1	3	8	1			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr18:47107968T>C	uc002ldv.3	+	5	1229	c.977T>C	c.(976-978)aTg>aCg	p.M326T	LIPG_uc002ldu.1_Missense_Mutation_p.M326T|LIPG_uc010xdh.2_Missense_Mutation_p.M252T	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	Homo sapiens lipase, endothelial (LIPG), mRNA.	326	Heparin-binding (By similarity).				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity	p.M326I(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GCCAAGAAAATGAGGAACAAG	0.493													62	77					0	0	1	0	0	C	47107968	T	C	47107968	3	2	181	1	0	0	0	0	1	0	0	0	8823	1464	51	3	999	3	LIPG	18	47107968	Missense_Mutation	SNP	T	TCGA-HT-7604-01A-11D-2086-08	46489959	47107968	30969280	47	7881											
NFATC1	4772	broad.mit.edu	37	chr18	77227575	77227575	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgtttcacctaccttccCgccaacggtaacgccatctt	8	10	6	17	4	2	0	1	0	1	0	3	0	3	0	5	1	4	2	5	1	3	5			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr18:77227575C>T	uc010xfg.2	+	7	2538	c.2085C>T	c.(2083-2085)ccC>ccT	p.P695P	NFATC1_uc002lnc.1_Silent_p.P695P|NFATC1_uc010xff.1_3'UTR|NFATC1_uc002lnd.3_Silent_p.P695P|NFATC1_uc002lne.3_Silent_p.P223P|NFATC1_uc010xfh.2_Silent_p.P695P|NFATC1_uc010xfi.1_Silent_p.P682P|NFATC1_uc010xfj.2_Silent_p.P223P|NFATC1_uc002lnf.3_Silent_p.P682P|NFATC1_uc002lng.3_Silent_p.P682P|NFATC1_uc010xfk.2_Silent_p.P682P	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	695					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCTACCTTCCCGCCAACGGTA	0.532													24	46					0	0	1	0	0	T	77227575	C	T	77227575	2	4	181	1	0	0	0	0	0	0	0	1	10361	639	23	2		2	NFATC1	18	77227575	Silent	SNP	C	TCGA-HT-7604-01A-11D-2086-08	30119607	77227575	849673	48	7882											
MUC16	94025	broad.mit.edu	37	chr19	9062722	9062722	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctgctcacaagagtggTcatctctgagtgtgaaaatc	10	12	10	9	0	4	3	2	2	2	1	6	3	4	3	0	1	1	2	0	1	3	1			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:9062722T>C	uc002mkp.3	-	2	24928	c.24724A>G	c.(24724-24726)Acc>Gcc	p.T8242A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8244	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACAAGAGTGGTCATCTCTGAG	0.498													26	25					0	0	1	0	0	C	9062722	T	C	9062722	3	2	181	1	0	0	0	0	1	0	0	0	9973	1667	58	3	19127	3	MUC16	19	9062722	Missense_Mutation	SNP	T	TCGA-HT-7604-01A-11D-2086-08		9062722	50066261	49	7883											
HKR1	284459	broad.mit.edu	37	chr19	37838730	37838730	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagctggagcgaggggaagCgccctggagagaggagagaa	12	3	19	7	2	1	2	1	0	0	2	1	9	1	6	1	5	3	1	1	5	2	0			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:37838730C>T	uc002ogb.3	+	4	538	c.269C>T	c.(268-270)gCg>gTg	p.A90V	HKR1_uc002ofx.3_5'UTR|HKR1_uc002ofy.3_5'UTR|HKR1_uc002ofz.3_Missense_Mutation_p.A71V|HKR1_uc002oga.3_Missense_Mutation_p.A71V|HKR1_uc010xto.2_Missense_Mutation_p.A71V|HKR1_uc002ogc.3_Missense_Mutation_p.A71V|HKR1_uc010xtp.2_Missense_Mutation_p.A29V|HKR1_uc002ogd.3_Missense_Mutation_p.A29V	NM_181786	NP_861451	P10072	HKR1_HUMAN	Homo sapiens HKR1, GLI-Kruppel zinc finger family member (HKR1), mRNA.	90	KRAB.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CGAGGGGAAGCGCCCTGGAGA	0.493													3	52					0	0	1	0	0	T	37838730	C	T	37838730	3	4	181	1	0	0	0	0	1	0	0	0	7194	768	27	1	279	1	HKR1	19	37838730	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08	28776008	37838730	21290253	50	7884											
RYR1	6261	broad.mit.edu	37	chr19	38995497	38995497	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcatctaaggcagagaaaaAggccacagtggatgctgaag	15	6	12	8	0	2	2	1	1	1	1	2	4	2	3	1	3	1	2	1	3	4	1			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:38995497A>G	uc002oit.3	+	50	8307	c.8177A>G	c.(8176-8178)aAg>aGg	p.K2726R	RYR1_uc002oiu.3_Missense_Mutation_p.K2726R|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2726	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCAGAGAAAAAGGCCACAGTG	0.597													3	51					0	0	1	0	0	G	38995497	A	G	38995497	3	3	181	1	0	0	0	0	1	0	0	0	13768	72	3	4	8379	4	RYR1	19	38995497	Missense_Mutation	SNP	A	TCGA-HT-7604-01A-11D-2086-08	1156767	38995497	20133486	51	7885											
MYPOP	339344	broad.mit.edu	37	chr19	46394511	46394511	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtgggcagcccccttcCtggggagtgcaggagggccg	4	5	19	13	2	0	0	0	0	0	0	1	2	1	2	5	6	2	2	5	6	0	1			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:46394511C>T	uc002pdt.3	-	2	657	c.570G>A	c.(568-570)caG>caA	p.Q190Q		NM_001012643	NP_001012661	Q86VE0	MYPOP_HUMAN	Homo sapiens Myb-related transcription factor, partner of profilin (MYPOP), mRNA.	190	Pro-rich.					nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						AGCCCCCTTCCTGGGGAGTGC	0.677													6	0					0	0	1	0	0	T	46394511	C	T	46394511	2	4	181	1	0	0	0	0	0	0	0	1	10099	680	24	3		3	MYPOP	19	46394511	Silent	SNP	C	TCGA-HT-7604-01A-11D-2086-08	7399014	46394511	12734472	52	7886											
ZC3H4	23211	broad.mit.edu	37	chr19	47593321	47593321	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgtcctcctcctcgtcGccctcatattccccatactg	5	12	4	20	2	1	0	1	0	0	0	7	0	5	0	7	0	1	0	7	0	2	3			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:47593321G>A	uc002pga.4	-	4	656	c.618C>T	c.(616-618)ggC>ggT	p.G206G	ZC3H4_uc002pgb.1_Non-coding_Transcript	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	206							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CCTCCTCGTCGCCCTCATATT	0.577													39	72					0	0	1	0	0	A	47593321	G	A	47593321	2	1	181	1	0	0	0	0	0	0	0	1	17567	1074	38	1		1	ZC3H4	19	47593321	Silent	SNP	G	TCGA-HT-7604-01A-11D-2086-08	1198810	47593321	11535662	53	7887											
CCDC155	147872	broad.mit.edu	37	chr19	49898432	49898432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcccccaggatgcacGcctccaaacattggccaaca	11	4	9	17	1	0	0	0	0	0	0	1	1	1	1	6	3	3	1	6	3	2	1			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:49898432G>A	uc002pnm.2	+	3	423	c.218G>A	c.(217-219)cGc>cAc	p.R73H	CCDC155_uc002pnl.2_Missense_Mutation_p.R73H|CCDC155_uc010emx.2_Missense_Mutation_p.R46H	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN	Homo sapiens coiled-coil domain containing 155 (CCDC155), mRNA.	73						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						CAGGATGCACGCCTCCAAACA	0.622													5	47					0	0	1	0	0	A	49898432	G	A	49898432	3	1	181	1	0	0	0	0	1	0	0	0	2788	1087	38	1	228	1	CCDC155	19	49898432	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	2305111	49898432	9230551	54	7888											
C20orf194	25943	broad.mit.edu	37	chr20	3356865	3356865	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatgcagatttctccaaTgtgccacataaggtaagaga	15	9	10	7	0	1	2	0	0	1	2	2	4	1	3	2	2	2	2	2	2	4	3			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr20:3356865T>C	uc002wii.2	-	3	419	c.368A>G	c.(367-369)cAt>cGt	p.H123R	C20orf194_uc002wik.2_5'Flank|C20orf194_uc010gay.1_Non-coding_Transcript	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	Homo sapiens chromosome 20 open reading frame 194 (C20orf194), mRNA.	123										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						ATTTCTCCAATGTGCCACATA	0.368													35	27					0	0	1	0	0	C	3356865	T	C	3356865	3	2	181	1	0	0	0	0	1	0	0	0	2099	1464	51	3	3301	3	C20orf194	20	3356865	Missense_Mutation	SNP	T	TCGA-HT-7604-01A-11D-2086-08		3356865	59668655	55	7889											
PCK1	5105	broad.mit.edu	37	chr20	56139236	56139236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actctccaggtcatttaaggGccatcaacccagaaaatggc	13	8	8	12	0	3	1	2	0	1	1	4	1	3	1	3	3	1	0	3	3	4	2			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr20:56139236G>A	uc002xyn.4	+	6	1136	c.973G>A	c.(973-975)Gcc>Acc	p.A325T	PCK1_uc010zzm.2_Missense_Mutation_p.A8T	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	325					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.A325T(2)|p.A325V(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TCATTTAAGGGCCATCAACCC	0.448													9	40					0	0	1	0	0	A	56139236	G	A	56139236	3	1	181	1	0	0	0	0	1	0	0	0	11581	1203	42	3	995	3	PCK1	20	56139236	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	52782371	56139236	6886284	56	7890											
CDH4	1002	broad.mit.edu	37	chr20	60498709	60498709	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtgccccccggcaccgtGctgaccacgttttcagctgt	4	9	12	16	4	1	1	1	1	0	0	1	1	1	1	5	2	3	4	5	2	0	2			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr20:60498709G>T	uc002ybn.2	+	9	1663	c.1575G>T	c.(1573-1575)gtG>gtT	p.V525V	CDH4_uc002ybr.2_Silent_p.V488V|CDH4_uc002ybp.2_Silent_p.V451V	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	525	Cadherin 4.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCGGCACCGTGCTGACCACGT	0.622													3	51					1	1	1	1	0	T	60498709	G	T	60498709	2	4	181	1	0	0	0	0	0	0	0	1	3112	1306	46	5		5	CDH4	20	60498709	Silent	SNP	G	TCGA-HT-7604-01A-11D-2086-08	4359473	60498709	2526811	57	7891											
ATRX	546	broad.mit.edu	37	chrX	76937745	76937745	+	Frame_Shift_Del	DEL	T	T	-																															tgttgttccattttaattacTtttttcttaaagtctgaagg																										TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chrX:76937745delT	uc004ecp.4	-	8	3235	c.3003delA	c.(3001-3003)aaafs	p.K1001fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K963fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K786fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K933fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K972fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K946fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1001					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTTTAATTACTTTTTTCTTAA	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						52	8	---	---	---	---						-	76937745	T	-	76937745	7	5	181	1	0	1	0	1	0	0	0	0	1208	1606	56	0	4583	0	ATRX	23	76937745	Frame_Shift_Del	DEL	T	TCGA-HT-7604-01A-11D-2086-08		76937745	78332815	58	7892											
XIAP	331	broad.mit.edu	37	chrX	123034427	123034427	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattaagaaaataatggaggAaaaaattcagatatctggga	20	9	9	3	0	2	2	1	0	1	2	2	5	2	5	0	3	0	0	0	3	8	4			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chrX:123034427A>G	uc010nqu.3	+	5	1310	c.1184A>G	c.(1183-1185)gAa>gGa	p.E395G	XIAP_uc004etx.3_Missense_Mutation_p.E395G|XIAP_uc010nqv.3_Missense_Mutation_p.E21G	NM_001204401	NP_001191330	P98170	XIAP_HUMAN	Homo sapiens X-linked inhibitor of apoptosis (XIAP), transcript variant 2, mRNA.	395					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						ATAATGGAGGAAAAAATTCAG	0.368									X-linked Lymphoproliferative syndrome				31	5					0	0	1	0	0	G	123034427	A	G	123034427	3	3	181	1	0	0	0	0	1	0	0	0	17425	246	9	3	1202	3	XIAP	23	123034427	Missense_Mutation	SNP	A	TCGA-HT-7604-01A-11D-2086-08	46096682	123034427	32236133	59	7893											
CLIC4	25932	broad.mit.edu	37	chr1	25140630	25140630	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcccgggacccacccaccAtttataactttcaacagtga	11	9	6	15	1	1	1	1	1	0	0	2	2	2	2	4	1	2	1	4	1	3	4			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr1:25140630A>G	uc001bjo.2	+	2	513	c.228A>G	c.(226-228)ccA>ccG	p.P76P	CLIC4_uc001bjp.1_Silent_p.P56P	NM_013943	NP_039234	Q9Y696	CLIC4_HUMAN	Homo sapiens chloride intracellular channel 4 (CLIC4), nuclear gene encoding mitochondrial protein, mRNA.	76	Required for insertion into the membrane (Probable).				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		CCCACCCACCATTTATAACTT	0.398													12	69					0	0	1	0	0	G	25140630	A	G	25140630	2	3	182	1	0	0	0	0	0	0	0	1	3528	204	8	3		3	CLIC4	1	25140630	Silent	SNP	A	TCGA-HT-7605-01A-11D-2086-08		25140630	224109991	1	7894											
PTPRU	10076	broad.mit.edu	37	chr1	29585123	29585123	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactgtgtgcagttcagctaCttcctgtacagccgggacgg	7	10	12	12	2	1	0	1	0	0	0	2	1	2	1	2	2	5	4	2	2	2	4			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr1:29585123C>A	uc001bru.3	+	2	441	c.312C>A	c.(310-312)taC>taA	p.Y104*	PTPRU_uc009vtq.3_Nonsense_Mutation_p.Y104*|PTPRU_uc009vtr.3_Nonsense_Mutation_p.Y104*|PTPRU_uc001brw.3_Nonsense_Mutation_p.Y104*	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	104	MAM.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		AGTTCAGCTACTTCCTGTACA	0.602													19	190					1.9806e-07	2.24219e-07	1	1	0	A	29585123	C	A	29585123	4	1	182	1	0	0	0	0	0	1	0	0	12813	576	20	5	322	5	PTPRU	1	29585123	Nonsense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08	4444493	29585123	219665498	2	7895											
SH3BP5L	80851	broad.mit.edu	37	chr1	249107313	249107313	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggcacagccgagtcactcGctggtgctcccgctcacctc	5	9	10	17	3	2	0	2	0	0	0	5	1	3	0	3	2	2	4	3	2	0	1			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr1:249107313G>A	uc001iew.1	-	5	1138	c.586C>T	c.(586-588)Cga>Tga	p.R196*	SH3BP5L_uc010pzp.1_Nonsense_Mutation_p.R89*|SH3BP5L_uc001iev.1_Nonsense_Mutation_p.R77*	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	Homo sapiens SH3-binding domain protein 5-like (SH3BP5L), mRNA.	196								p.R196L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CGAGTCACTCGCTGGTGCTCC	0.632													3	24					0	0	1	0	0	A	249107313	G	A	249107313	4	1	182	1	0	0	0	0	0	1	0	0	14248	1095	38	1	603	1	SH3BP5L	1	249107313	Nonsense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08	219522190	249107313	143308	3	7896											
GEMIN6	79833	broad.mit.edu	37	chr2	39008705	39008705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggcagcatgtctgtgaccGgaattatgggacatgctgtg	9	11	14	7	1	1	1	0	1	1	0	1	3	1	3	1	3	2	3	1	3	2	1			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:39008705G>A	uc002rrc.3	+	2	360	c.175G>A	c.(175-177)Gga>Aga	p.G59R	GEMIN6_uc002rrb.3_Non-coding_Transcript	NM_024775	NP_079051	Q8WXD5	GEMI6_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 6 (GEMIN6), mRNA.	59					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding			kidney(1)|large_intestine(3)|pancreas(1)	5		all_hematologic(82;0.21)				GTCTGTGACCGGAATTATGGG	0.443													35	100					0	0	1	0	0	A	39008705	G	A	39008705	3	1	182	1	0	0	0	0	1	0	0	0	6332	1117	39	2	181	2	GEMIN6	2	39008705	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08		39008705	204190668	4	7897											
ACTG2	72	broad.mit.edu	37	chr2	74146597	74146597	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggaagtactcagtctggatCgggggctctatcctggcctc	6	10	13	12	2	3	0	1	0	2	0	6	2	4	2	2	5	1	2	2	5	3	2			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:74146597C>T	uc002sjw.3	+	8	1148	c.1026C>T	c.(1024-1026)atC>atT	p.I342I	ACTG2_uc010yrn.2_Silent_p.I299I|ACTG2_uc010fey.3_Silent_p.I342I	NM_001615	NP_001606	P63267	ACTH_HUMAN	Homo sapiens actin, gamma 2, smooth muscle, enteric (ACTG2), transcript variant 1, mRNA.	342					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						CAGTCTGGATCGGGGGCTCTA	0.527													10	85					0	0	1	0	0	T	74146597	C	T	74146597	2	4	182	1	0	0	0	0	0	0	0	1	197	874	31	2		2	ACTG2	2	74146597	Silent	SNP	C	TCGA-HT-7605-01A-11D-2086-08	35137892	74146597	169052776	5	7898											
KDM3A	55818	broad.mit.edu	37	chr2	86697513	86697513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggactcacctgtgttttgccGcttctttcacttcaggaggt	5	15	10	11	1	4	0	3	0	1	0	4	2	4	2	2	3	1	2	2	3	0	5			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:86697513G>A	uc002sri.4	+	10	2033	c.1706G>A	c.(1705-1707)cGc>cAc	p.R569H	KDM3A_uc010ytj.2_Missense_Mutation_p.R569H|KDM3A_uc010ytk.2_Missense_Mutation_p.R517H	NM_018433	NP_060903	Q9Y4C1	KDM3A_HUMAN	Homo sapiens lysine (K)-specific demethylase 3A (KDM3A), transcript variant 1, mRNA.	569					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GTGTTTTGCCGCTTCTTTCAC	0.453													4	99					0	0	1	0	0	A	86697513	G	A	86697513	3	1	182	1	0	0	0	0	1	0	0	0	8126	1087	38	1	1744	1	KDM3A	2	86697513	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08	12550916	86697513	156501860	6	7899											
UXS1	80146	broad.mit.edu	37	chr2	106746145	106746145	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacccaacatgtttaatgTcccaatcgtattggtcttta	10	16	5	10	1	1	0	0	0	1	0	3	0	2	0	2	1	2	2	2	1	6	7			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:106746145T>C	uc002tdm.3	-	6	645	c.547A>G	c.(547-549)Aca>Gca	p.T183A	UXS1_uc002tdl.3_Missense_Mutation_p.T15A|UXS1_uc002tdn.3_Missense_Mutation_p.T188A|UXS1_uc002tdo.3_Missense_Mutation_p.T126A|UXS1_uc010ywh.2_Intron	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN	Homo sapiens UDP-glucuronate decarboxylase 1 (UXS1), transcript variant 2, mRNA.	183					cellular metabolic process	Golgi cisterna membrane|integral to membrane	UDP-glucuronate decarboxylase activity|coenzyme binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						ATGTTTAATGTCCCAATCGTA	0.378													12	20					0	0	1	0	0	C	106746145	T	C	106746145	3	2	182	1	0	0	0	0	1	0	0	0	17106	1667	58	3	751	3	UXS1	2	106746145	Missense_Mutation	SNP	T	TCGA-HT-7605-01A-11D-2086-08	20048632	106746145	136453228	7	7900											
NCKAP5	344148	broad.mit.edu	37	chr2	133721292	133721292	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaaattgcttcatttcttaCctctagagctttcaatctct	11	17	3	10	0	5	1	2	0	3	1	6	1	5	1	1	0	3	2	1	0	5	6			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:133721292C>T	uc002ttp.3	-	8	953	c.579_splice	c.e8+1	p.E193_splice	NCKAP5_uc002ttq.3_Splice_Site_p.E193_splice|NCKAP5_uc002tts.1_Splice_Site_p.E168_splice	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	193							protein binding	p.?(2)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCATTTCTTACCTCTAGAGCT	0.368													14	46					0	0	1	0	0	T	133721292	C	T	133721292	5	4	182	1	0	0	0	0	0	0	1	0	10223	521	18	3	5201	3	NCKAP5	2	133721292	Splice_Site	SNP	C	TCGA-HT-7605-01A-11D-2086-08	26975147	133721292	109478081	8	7901											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								29	58					0	0	1	0	0	T	209113112	C	T	209113112	3	4	182	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08	75391820	209113112	34086261	9	7902											
MARCH4	57574	broad.mit.edu	37	chr2	217234779	217234779	+	Frame_Shift_Del	DEL	G	G	-																															ggccgccaaaccggggggctGggggtcgccgtgcatgggca																										TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:217234779delG	uc002vgb.3	-	0	1972	c.205delC	c.(205-207)cagfs	p.Q69fs		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 4 (MARCH4), mRNA.	69	Pro-rich.					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		CCGGGGGGCTGGGGGTCGCCG	0.701													2	4	---	---	---	---						-	217234779	G	-	217234779	7	5	182	1	0	1	0	1	0	0	0	0	9303	1357	47	0	1043	0	MARCH4	2	217234779	Frame_Shift_Del	DEL	G	TCGA-HT-7605-01A-11D-2086-08	8121667	217234779	25964594	10	7903											
PBRM1	55193	broad.mit.edu	37	chr3	52598217	52598217	+	Frame_Shift_Del	DEL	G	G	-																															ttcagttggcctgcaggagaGgaagtccttgaatgacaaca																										TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr3:52598217delG	uc003des.2	-	22	3736	c.3724delC	c.(3724-3726)ctcfs	p.L1242fs	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Frame_Shift_Del_p.L1242fs|PBRM1_uc003der.2_Frame_Shift_Del_p.L1210fs|PBRM1_uc003det.2_Frame_Shift_Del_p.L1257fs|PBRM1_uc003deu.2_Frame_Shift_Del_p.L1257fs|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Frame_Shift_Del_p.L1242fs|PBRM1_uc010hmk.1_Frame_Shift_Del_p.L1217fs|PBRM1_uc003dey.2_Frame_Shift_Del_p.L1217fs|PBRM1_uc003dez.1_Frame_Shift_Del_p.L1241fs	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	1242	BAH 2.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CTGCAGGAGAGGAAGTCCTTG	0.383			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								7	98	---	---	---	---						-	52598217	G	-	52598217	7	5	182	1	0	1	0	1	0	0	0	0	11491	1000	35	0	1208	0	PBRM1	3	52598217	Frame_Shift_Del	DEL	G	TCGA-HT-7605-01A-11D-2086-08		52598217	145424213	11	7904											
ZBTB20	26137	broad.mit.edu	37	chr3	114069165	114069166	+	Frame_Shift_Del	DEL	AA	AA	-																															cgtagttctgtttggcggtgAaagtcttgttgcagagagtg																										TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr3:114069165_114069166delAA	uc003ebi.3	-	3	1939_1940	c.1759_1760delTT	c.(1759-1761)ttcfs	p.F587fs	ZBTB20_uc003ebj.3_Frame_Shift_Del_p.F514fs|ZBTB20_uc010hqp.3_Frame_Shift_Del_p.F514fs|ZBTB20_uc003ebk.3_Frame_Shift_Del_p.F514fs|ZBTB20_uc003ebl.3_Frame_Shift_Del_p.F514fs|ZBTB20_uc003ebm.3_Frame_Shift_Del_p.F514fs|ZBTB20_uc003ebn.3_Frame_Shift_Del_p.F514fs|ZBTB20-AS1_uc003ebo.2_5'Flank	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	587					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TTTGGCGGTGAAAGTCTTGTTG	0.599													16	261	---	---	---	---						-	114069166	AA	-	114069165	7	5	182	1	0	1	0	1	0	0	0	0	17526	246	9	0	473	0	ZBTB20	3	114069165	Frame_Shift_Del	DEL	AA	TCGA-HT-7605-01A-11D-2086-08	61470948	114069165	83953265	12	7905											
C3orf15	89876	broad.mit.edu	37	chr3	119465994	119465994	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatagtactataagctcCtacctagaagacataatact	16	10	4	11	0	0	2	0	0	0	2	1	2	1	2	3	0	4	2	3	0	9	8			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr3:119465994C>T	uc003ede.4	+	14	2012	c.1935C>T	c.(1933-1935)tcC>tcT	p.S645S	C3orf15_uc010hqz.3_Silent_p.S583S|C3orf15_uc011bjd.2_Silent_p.S519S|C3orf15_uc011bje.2_Silent_p.S625S|C3orf15_uc003edg.4_5'Flank	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	481						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		CTATAAGCTCCTACCTAGAAG	0.373													12	88					0	0	1	0	0	T	119465994	C	T	119465994	2	4	182	1	0	0	0	0	0	0	0	1	2209	668	24	3		3	C3orf15	3	119465994	Silent	SNP	C	TCGA-HT-7605-01A-11D-2086-08	5396829	119465994	78556436	13	7906											
FBXO40	51725	broad.mit.edu	37	chr3	121340407	121340407	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgccacctgctctgtggtgCcaccttccacatgtgcaaag	7	10	9	15	0	1	0	0	0	1	0	2	0	2	0	5	1	4	2	5	1	1	1			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr3:121340407C>G	uc003eeg.2	+	2	341	c.131C>G	c.(130-132)gCc>gGc	p.A44G		NM_016298	NP_057382	Q9UH90	FBX40_HUMAN	Homo sapiens F-box protein 40 (FBXO40), mRNA.	44					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CTCTGTGGTGCCACCTTCCAC	0.572													9	109					0	0	1	0	0	G	121340407	C	G	121340407	3	3	182	1	0	0	0	0	1	0	0	0	5749	739	26	5	137	5	FBXO40	3	121340407	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08	1874413	121340407	76682023	14	7907											
PIK3CA	5290	broad.mit.edu	37	chr3	178936092	178936092	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctctctgaaatcactgAgcaggagaaagattttctat	12	13	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs121913274		TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr3:178936092A>G	uc003fjk.3	+	9	1791	c.1634A>G	c.(1633-1635)gAg>gGg	p.E545G		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(1071)|p.E545A(192)|p.E545G(157)|p.E545D(23)|p.E545Q(21)|p.E545?(19)|p.E545V(10)|p.(542_545)E>K(4)|p.T544N(3)|p.T544I(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAAATCACTGAGCAGGAGAAA	0.353	E545A(AGS_STOMACH)|E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			4	49					0	0	1	0	0	G	178936092	A	G	178936092	3	3	182	1	0	0	0	0	1	0	0	0	11913	304	11	4	1668	4	PIK3CA	3	178936092	Missense_Mutation	SNP	A	TCGA-HT-7605-01A-11D-2086-08	57595685	178936092	19086338	15	7908											
PDGFRA	5156	broad.mit.edu	37	chr4	54324903	54324904	+	Frame_Shift_Del	DEL	AT	AT	-																															tcgagaaaaagaagaacgacAtagagaaagacgacacaggg																										TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr4:54324903_54324904delAT	uc003gzy.3	+	16	1769_1770	c.1583_1584delAT	c.(1582-1584)catfs	p.H528fs	PDGFRA_uc003haa.3_Intron|PDGFRA_uc011bzu.2_Frame_Shift_Del_p.H522fs|PDGFRA_uc003gzz.3_Frame_Shift_Del_p.H454fs|PDGFRA_uc003hab.3_Frame_Shift_Del_p.H493fs|PDGFRA_uc010ign.3_Non-coding_Transcript|FIP1L1_uc003hae.3_Frame_Shift_Del_p.I116fs	NM_030917	NP_112179	P16234	PGFRA_HUMAN	Homo sapiens FIP1 like 1 (S. cerevisiae) (FIP1L1), transcript variant 1, mRNA.	0					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.V527M(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GAAGAACGACATAGAGAAAGAC	0.381			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			11	41	---	---	---	---						-	54324904	AT	-	54324903	7	5	182	1	0	1	0	1	0	0	0	0	11661	217	8	0		0	PDGFRA	4	54324903	Frame_Shift_Del	DEL	AT	TCGA-HT-7605-01A-11D-2086-08		54324903	136829373	16	7909											
AGPAT9	84803	broad.mit.edu	37	chr4	84509367	84509367	+	Frame_Shift_Del	DEL	A	A	-																															tttctatttccttcagcctcAaaaactggctgagtgaactg																								rs140308062	byFrequency	TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr4:84509367delA	uc003how.3	+	5	777	c.559delA	c.(559-561)aaafs	p.K187fs	AGPAT9_uc003hox.3_Frame_Shift_Del_p.K187fs|AGPAT9_uc003hoy.3_Frame_Shift_Del_p.K187fs	NM_032717	NP_116106	Q53EU6	GPAT3_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 9 (AGPAT9), transcript variant 1, mRNA.	187					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				CTTCAGCCTCAAAAACTGGCT	0.413													7	155	---	---	---	---						-	84509367	A	-	84509367	7	5	182	1	0	1	0	1	0	0	0	0	392	131	5	0	577	0	AGPAT9	4	84509367	Frame_Shift_Del	DEL	A	TCGA-HT-7605-01A-11D-2086-08	30184464	84509367	106644909	17	7910											
KIAA0922	23240	broad.mit.edu	37	chr4	154542876	154542876	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagcttgtgtgcagtgactTtgagaggtctgagctgagca	10	11	14	6	0	1	4	0	4	1	1	1	5	1	4	0	1	4	4	0	1	1	2			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr4:154542876T>A	uc010ipp.3	+	27	3786	c.3734T>A	c.(3733-3735)tTt>tAt	p.F1245Y	KIAA0922_uc003inm.4_Missense_Mutation_p.F1244Y|KIAA0922_uc010ipq.3_Missense_Mutation_p.F1013Y	NM_001131007	NP_001124479	A2VDJ0	T131L_HUMAN	Homo sapiens KIAA0922 (KIAA0922), transcript variant 1, mRNA.	1244						integral to membrane		p.P1244P(1)		breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TGCAGTGACTTTGAGAGGTCT	0.433													8	54					0	0	1	0	0	A	154542876	T	A	154542876	3	1	182	1	0	0	0	0	1	0	0	0	8201	1841	64	5	3844	5	KIAA0922	4	154542876	Missense_Mutation	SNP	T	TCGA-HT-7605-01A-11D-2086-08	70033509	154542876	36611400	18	7911											
DCHS2	54798	broad.mit.edu	37	chr4	155163900	155163900	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttagaaagcctgggcatcccTttatctgtggcttggacaat	9	13	10	9	0	1	1	0	0	1	1	2	2	2	2	2	3	1	2	2	3	4	4			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr4:155163900T>C	uc003inw.2	-	21	5601	c.5601A>G	c.(5599-5601)aaA>aaG	p.K1867K		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1867	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGGCATCCCTTTATCTGTGG	0.378													3	64					0	0	1	0	0	C	155163900	T	C	155163900	2	2	182	1	0	0	0	0	0	0	0	1	4288	1606	56	4		4	DCHS2	4	155163900	Silent	SNP	T	TCGA-HT-7605-01A-11D-2086-08	621024	155163900	35990376	19	7912											
C6orf165	154313	broad.mit.edu	37	chr6	88144700	88144700	+	Frame_Shift_Del	DEL	A	A	-																															acatagttagagaaaaggccAaaaaaaatacagagttaatt																										TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr6:88144700delA	uc003plv.3	+	10	1546	c.1423delA	c.(1423-1425)aaafs	p.K475fs	SLC35A1_uc003plx.3_5'Flank|C6orf165_uc003plu.2_Frame_Shift_Del_p.K475fs|C6orf165_uc003plw.3_Frame_Shift_Del_p.K287fs|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.	475								p.A474D(1)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAAAAGGCCAAAAAAAATAC	0.269													9	115	---	---	---	---						-	88144700	A	-	88144700	7	5	182	1	0	1	0	1	0	0	0	0	2341	131	5	0	1461	0	C6orf165	6	88144700	Frame_Shift_Del	DEL	A	TCGA-HT-7605-01A-11D-2086-08		88144700	82970367	20	7913											
RALA	5898	broad.mit.edu	37	chr7	39726381	39726381	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacagttcatgtacgatgagGtaagtgctaattttataatg	13	15	9	4	1	1	1	1	1	0	0	1	2	1	1	0	1	3	4	0	1	6	8			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr7:39726381G>T	uc003thd.3	+	2	424	c.114_splice	c.e2+1	p.E38_splice		NM_005402	NP_005393	P11233	RALA_HUMAN	Homo sapiens v-ral simian leukemia viral oncogene homolog A (ras related) (RALA), mRNA.	38					Ras protein signal transduction|actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|regulation of exocytosis	cell surface|cleavage furrow|cytosol|midbody|plasma membrane	Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						GTACGATGAGGTAAGTGCTAA	0.418													4	45					0.00024832	0.000266057	1	1	0	T	39726381	G	T	39726381	5	4	182	1	0	0	0	0	0	0	1	0	13010	1275	44	5	117	5	RALA	7	39726381	Splice_Site	SNP	G	TCGA-HT-7605-01A-11D-2086-08		39726381	119412282	21	7914											
PIWIL2	55124	broad.mit.edu	37	chr8	22146091	22146091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcaaaggaaaacagacagtGctgaaatcagcattaagatt	18	8	9	6	0	2	3	2	1	0	2	2	4	2	4	0	1	3	2	0	1	5	2			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr8:22146091G>A	uc003xbn.2	+	7	1046	c.898G>A	c.(898-900)Gct>Act	p.A300T	PIWIL2_uc011kzf.1_Missense_Mutation_p.A300T|PIWIL2_uc010ltv.2_Missense_Mutation_p.A300T	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.	300					DNA methylation involved in gamete generation|RNA 5'-end processing|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AACAGACAGTGCTGAAATCAG	0.383													4	69					0	0	1	0	0	A	22146091	G	A	22146091	3	1	182	1	0	0	0	0	1	0	0	0	11958	1319	46	3	924	3	PIWIL2	8	22146091	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08		22146091	124217931	22	7915											
KCNU1	157855	broad.mit.edu	37	chr8	36642081	36642081	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggctgatctggagatcTgttaaaaaatggcaaatcat	14	12	9	6	0	4	2	2	1	2	1	4	3	4	2	0	3	0	3	0	3	4	2			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr8:36642081T>C	uc010lvw.3	+	0	240	c.153T>C	c.(151-153)tcT>tcC	p.S51S	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	51						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCTGGAGATCTGTTAAAAAAT	0.438													4	33					0	0	1	0	0	C	36642081	T	C	36642081	2	2	182	1	0	0	0	0	0	0	0	1	8093	1567	55	4		4	KCNU1	8	36642081	Silent	SNP	T	TCGA-HT-7605-01A-11D-2086-08	14495990	36642081	109721941	23	7916											
PXDNL	137902	broad.mit.edu	37	chr8	52321594	52321594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacacgcggggctggagcGcgcgaagagcatgcagggcg	8	2	20	11	6	0	1	0	0	0	1	0	3	0	2	0	5	3	4	0	5	1	0			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr8:52321594G>A	uc003xqu.4	-	16	2691	c.2590C>T	c.(2590-2592)Cgc>Tgc	p.R864C	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	864					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.R864C(1)|p.R63C(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGGCTGGAGCGCGCGAAGAGC	0.662													3	51					0	0	1	0	0	A	52321594	G	A	52321594	3	1	182	1	0	0	0	0	1	0	0	0	12848	1087	38	1	1829	1	PXDNL	8	52321594	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08	15679513	52321594	94042428	24	7917											
CHD7	55636	broad.mit.edu	37	chr8	61735226	61735226	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccgaacctggacagagtTgaacgtggttgtgtatcatg	10	12	12	7	2	1	2	1	1	0	1	2	4	2	3	2	2	2	3	2	2	3	4			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr8:61735226T>G	uc003xue.3	+	11	3614	c.3122T>G	c.(3121-3123)tTg>tGg	p.L1041W	CHD7_uc022aux.1_Intron|CHD7_uc003xuf.3_Missense_Mutation_p.L154W	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	1041	Helicase ATP-binding.				T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGGACAGAGTTGAACGTGGTT	0.433													6	201					0	0	1	0	0	G	61735226	T	G	61735226	3	3	182	1	0	0	0	0	1	0	0	0	3330	1821	63	5	3164	5	CHD7	8	61735226	Missense_Mutation	SNP	T	TCGA-HT-7605-01A-11D-2086-08	9413632	61735226	84628796	25	7918											
ASAP1	50807	broad.mit.edu	37	chr8	131370312	131370312	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgtgcagccgcgtggtgAagctggacgtggtgggcgag	6	8	20	7	4	0	1	0	1	0	0	0	3	0	2	1	4	3	3	1	4	1	1			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr8:131370312A>C	uc003yta.2	-	2	365	c.137T>G	c.(136-138)tTc>tGc	p.F46C	ASAP1_uc011liw.2_Missense_Mutation_p.F39C	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	46					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CCGCGTGGTGAAGCTGGACGT	0.677													7	27					0	0	1	0	0	C	131370312	A	C	131370312	3	2	182	1	0	0	0	0	1	0	0	0	1010	246	9	5	3364	5	ASAP1	8	131370312	Missense_Mutation	SNP	A	TCGA-HT-7605-01A-11D-2086-08	69635086	131370312	14993710	26	7919											
NOL6	65083	broad.mit.edu	37	chr9	33467861	33467861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaggcgactcagtggaCggagactggaggggtacaaa	11	5	16	9	2	1	1	1	0	0	1	1	5	1	3	1	6	2	2	1	6	2	1			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr9:33467861C>T	uc003zsz.3	-	11	1531	c.1430G>A	c.(1429-1431)cGt>cAt	p.R477H	NOL6_uc003zsy.3_5'Flank|NOL6_uc003zta.3_Missense_Mutation_p.R477H|NOL6_uc010mjv.3_Missense_Mutation_p.R474H|NOL6_uc011lob.2_Missense_Mutation_p.R425H|NOL6_uc003ztb.1_Missense_Mutation_p.R477H	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	477					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		ACTCAGTGGACGGAGACTGGA	0.602													4	47					0	0	1	0	0	T	33467861	C	T	33467861	3	4	182	1	0	0	0	0	1	0	0	0	10525	536	19	1	2070	1	NOL6	9	33467861	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08		33467861	107745570	27	7920											
CORO2A	7464	broad.mit.edu	37	chr9	100897226	100897226	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcagctgcttggggatgctCcagatcttaatctggcaggg	8	10	14	9	0	2	1	0	0	2	1	3	2	3	2	1	4	4	5	1	4	1	2			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr9:100897226C>A	uc004aym.3	-	3	446	c.330G>T	c.(328-330)tgG>tgT	p.W110C	CORO2A_uc004ayl.3_Missense_Mutation_p.W110C	NM_052820	NP_438171	Q92828	COR2A_HUMAN	Homo sapiens coronin, actin binding protein, 2A (CORO2A), transcript variant 2, mRNA.	110					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TGGGGATGCTCCAGATCTTAA	0.632													22	52					7.88262e-20	9.09534e-20	1	1	0	A	100897226	C	A	100897226	3	1	182	1	0	0	0	0	1	0	0	0	3756	856	30	5	1283	5	CORO2A	9	100897226	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08	67429365	100897226	40316205	28	7921											
LAMC3	10319	broad.mit.edu	37	chr9	133917071	133917071	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggacacctgtgacccccGcagtgggcgctgcccctgca	5	6	12	18	2	0	1	0	1	0	0	0	2	0	2	6	2	2	3	6	2	0	0	rs143849259		TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr9:133917071G>T	uc004caa.1	+	6	1429	c.1331G>T	c.(1330-1332)cGc>cTc	p.R444L		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	444	Laminin EGF-like 4.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TGTGACCCCCGCAGTGGGCGC	0.547													3	62					1	1	1	1	0	T	133917071	G	T	133917071	3	4	182	1	0	0	0	0	1	0	0	0	8616	1087	38	5	1357	5	LAMC3	9	133917071	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08	33019845	133917071	7296360	29	7922											
POLL	27343	broad.mit.edu	37	chr10	103343337	103343337	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagagctccaagacaggcacGctctcactgatatggtccag	12	7	10	12	1	1	3	1	1	1	2	4	3	3	3	2	2	1	3	2	2	3	1	rs148400497	byFrequency	TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr10:103343337G>A	uc001ktg.1	-	4	1759	c.993C>T	c.(991-993)agC>agT	p.S331S	DPCD_uc010qpz.2_Intron|POLL_uc001ktd.1_5'Flank|POLL_uc001kte.1_Silent_p.S23S|POLL_uc001kth.1_Silent_p.S56S|POLL_uc001ktj.2_Silent_p.S331S|POLL_uc010qqb.2_Non-coding_Transcript|POLL_uc001ktf.3_Silent_p.S239S|POLL_uc001kti.2_Silent_p.S331S|POLL_uc001ktl.3_Silent_p.S243S|POLL_uc001ktm.3_Silent_p.S331S|POLL_uc010qqc.2_Silent_p.S23S|POLL_uc010qqa.2_Silent_p.S70S|POLL_uc010qqd.2_3'UTR	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN	Homo sapiens polymerase (DNA directed), lambda (POLL), transcript variant 2, mRNA.	331					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AGACAGGCACGCTCTCACTGA	0.562								DNA polymerases (catalytic subunits)					6	78					0	0	1	0	0	A	103343337	G	A	103343337	2	1	182	1	0	0	0	0	0	0	0	1	12205	1078	38	1		1	POLL	10	103343337	Silent	SNP	G	TCGA-HT-7605-01A-11D-2086-08		103343337	32191410	30	7923											
RIC3	79608	broad.mit.edu	37	chr11	8148216	8148216	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtttaccttcccagtcCtccatgtaaggggcctcctc	6	12	7	16	0	0	0	0	0	0	0	5	0	4	0	6	2	1	2	6	2	2	4			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr11:8148216C>A	uc010rbm.1	-	4	798	c.744G>T	c.(742-744)gaG>gaT	p.E248D	RIC3_uc001mgb.2_Missense_Mutation_p.E58D|RIC3_uc010rbl.1_Missense_Mutation_p.E170D|RIC3_uc001mgd.2_Missense_Mutation_p.E220D|RIC3_uc001mgc.2_Missense_Mutation_p.E219D|RIC3_uc009yfm.2_Intron|RIC3_uc001mge.2_Intron|RIC3_uc009yfn.2_Missense_Mutation_p.E23D	NM_024557	NP_001193600	Q7Z5B4	RIC3_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 3 homolog (C. elegans) (RIC3), transcript variant 1, mRNA.	220						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		CTTCCCAGTCCTCCATGTAAG	0.403													3	65					1	1	1	1	0	A	8148216	C	A	8148216	3	1	182	1	0	0	0	0	1	0	0	0	13354	680	24	5	457	5	RIC3	11	8148216	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08		8148216	126858300	31	7924											
VWA5A	4013	broad.mit.edu	37	chr11	123989697	123989697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggtttccctggctgctGgacacaagtttgatcgggac	7	11	12	11	1	1	1	1	1	0	0	3	3	2	3	1	4	1	4	1	4	1	2			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr11:123989697G>A	uc001pzu.3	+	6	870	c.661G>A	c.(661-663)Gga>Aga	p.G221R	VWA5A_uc001pzr.3_Missense_Mutation_p.G221R|VWA5A_uc001pzs.3_Missense_Mutation_p.G221R|VWA5A_uc010sae.2_Missense_Mutation_p.G237R|VWA5A_uc001pzt.3_Missense_Mutation_p.G221R	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	221										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CCTGGCTGCTGGACACAAGTT	0.522													3	52					0	0	1	0	0	A	123989697	G	A	123989697	3	1	182	1	0	0	0	0	1	0	0	0	17239	1349	47	3	679	3	VWA5A	11	123989697	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08	115841481	123989697	11016819	32	7925											
GPR162	27239	broad.mit.edu	37	chr12	6933475	6933475	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagcaggcactgcatgcCgtcatgggcatctggatggt	10	8	14	9	1	2	1	1	0	1	1	2	2	2	2	1	4	3	4	1	4	2	0	rs146153056		TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr12:6933475C>T	uc001qqw.1	+	1	946	c.411C>T	c.(409-411)gcC>gcT	p.A137A	GPR162_uc010sfn.1_Silent_p.A137A|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'Flank	NM_019858	NP_062832	Q16538	GP162_HUMAN	Homo sapiens G protein-coupled receptor 162 (GPR162), transcript variant A-2, mRNA.	137						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						CACTGCATGCCGTCATGGGCA	0.617													28	51					0	0	1	0	0	T	6933475	C	T	6933475	2	4	182	1	0	0	0	0	0	0	0	1	6666	639	23	2		2	GPR162	12	6933475	Silent	SNP	C	TCGA-HT-7605-01A-11D-2086-08		6933475	126918420	33	7926											
ATN1	1822	broad.mit.edu	37	chr12	7048208	7048208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcagctgagaggcagcacGcagaaagggtggcggccctg	9	4	18	10	2	0	2	0	1	0	2	0	3	0	2	1	5	2	5	1	5	1	0			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr12:7048208G>A	uc001qrw.1	+	6	3319	c.3082G>A	c.(3082-3084)Gca>Aca	p.A1028T	ATN1_uc001qrx.1_Missense_Mutation_p.A1028T	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	1028					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	p.A1028S(2)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GAGGCAGCACGCAGAAAGGGT	0.662													4	109					0	0	1	0	0	A	7048208	G	A	7048208	3	1	182	1	0	0	0	0	1	0	0	0	1111	1087	38	1	3104	1	ATN1	12	7048208	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08	114733	7048208	126803687	34	7927											
FREM2	341640	broad.mit.edu	37	chr13	39265629	39265629	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaacttaattcagtatgTccatttggggcaagagggca	13	10	11	7	0	1	2	1	0	0	2	2	2	2	2	1	3	1	3	1	3	4	4			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr13:39265629T>C	uc001uwv.3	+	0	4457	c.4148T>C	c.(4147-4149)gTc>gCc	p.V1383A		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1383					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATTCAGTATGTCCATTTGGGG	0.413													11	156					0	0	1	0	0	C	39265629	T	C	39265629	3	2	182	1	0	0	0	0	1	0	0	0	6045	1667	58	3	4150	3	FREM2	13	39265629	Missense_Mutation	SNP	T	TCGA-HT-7605-01A-11D-2086-08		39265629	75904249	35	7928											
TBC1D4	9882	broad.mit.edu	37	chr13	75861015	75861015	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caattgactagagcatccgcGggcagcagcttccggagttg	9	8	13	11	3	0	2	0	1	0	1	2	3	2	3	2	2	3	5	2	2	2	4			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr13:75861015G>A	uc001vjl.1	-	20	4157	c.3810C>T	c.(3808-3810)ccC>ccT	p.P1270P	TBC1D4_uc010tht.1_Silent_p.P480P|TBC1D4_uc010thu.1_Silent_p.P427P|TBC1D4_uc010aer.2_Silent_p.P1262P|TBC1D4_uc010aes.2_Silent_p.P1207P	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	1270						cytoplasm	Rab GTPase activator activity	p.P1270P(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GAGCATCCGCGGGCAGCAGCT	0.453													3	56					0	0	1	0	0	A	75861015	G	A	75861015	2	1	182	1	0	0	0	0	0	0	0	1	15619	1103	39	2		2	TBC1D4	13	75861015	Silent	SNP	G	TCGA-HT-7605-01A-11D-2086-08	36595386	75861015	39308863	36	7929											
RFX7	64864	broad.mit.edu	37	chr15	56387426	56387426	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtatctggctatgtagctGctggctatatgtgtcctgtg	5	16	12	8	0	1	0	0	0	1	0	2	0	2	0	1	2	2	6	1	2	5	5			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr15:56387426G>A	uc010bfn.3	-	8	2500	c.2500C>T	c.(2500-2502)Cag>Tag	p.Q834*	RFX7_uc010ugk.1_Non-coding_Transcript|RFX7_uc002adn.1_Nonsense_Mutation_p.Q648*	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	Homo sapiens regulatory factor X, 7 (RFX7), mRNA.	737					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTATGTAGCTGCTGGCTATAT	0.393													8	132					0	0	1	0	0	A	56387426	G	A	56387426	4	1	182	1	0	0	0	0	0	1	0	0	13268	1328	46	3	1886	3	RFX7	15	56387426	Nonsense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08		56387426	46143966	37	7930											
EFTUD1	79631	broad.mit.edu	37	chr15	82554109	82554109	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatcatcttatccaaactgTtgagcaccatgattacttat	13	14	5	9	0	2	2	1	2	1	0	3	3	3	2	2	0	3	2	2	0	5	4			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr15:82554109T>C	uc002bgt.1	-	1	180	c.11A>G	c.(10-12)aAc>aGc	p.N4S	EFTUD1_uc002bgu.1_Missense_Mutation_p.N4S|FAM154B_uc010unr.2_5'Flank|FAM154B_uc002bgv.3_5'Flank|FAM154B_uc010uns.2_5'Flank	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 1 (EFTUD1), transcript variant 1, mRNA.	4					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						ATCCAAACTGTTGAGCACCAT	0.333													21	94					0	0	1	0	0	C	82554109	T	C	82554109	3	2	182	1	0	0	0	0	1	0	0	0	4960	1725	60	3	3427	3	EFTUD1	15	82554109	Missense_Mutation	SNP	T	TCGA-HT-7605-01A-11D-2086-08	26166683	82554109	19977283	38	7931											
ACSM2A	123876	broad.mit.edu	37	chr16	20471589	20471589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactttgctagtgatgtgttGgatcactgggctgacatgga	9	13	13	6	0	1	2	1	2	0	0	1	4	1	4	0	3	2	3	0	3	2	3			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr16:20471589G>T	uc010bwe.3	+	2	392	c.153G>T	c.(151-153)ttG>ttT	p.L51F	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Intron|ACSM2A_uc002dhf.4_Missense_Mutation_p.L51F|ACSM2A_uc002dhg.4_Missense_Mutation_p.L51F|ACSM2A_uc010vay.2_Intron	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	51					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GTGATGTGTTGGATCACTGGG	0.453													4	57					0.217242	0.224733	1	1	0	T	20471589	G	T	20471589	3	4	182	1	0	0	0	0	1	0	0	0	183	1339	47	5	155	5	ACSM2A	16	20471589	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08		20471589	69883164	39	7932											
ZNF764	92595	broad.mit.edu	37	chr16	30566916	30566916	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgcacgcgccggtgctGgtagagggcagagctctggc	5	7	18	11	3	1	2	0	0	1	2	1	2	1	2	1	4	3	6	1	4	1	1			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr16:30566916G>T	uc002dyq.3	-	2	965	c.826C>A	c.(826-828)Cag>Aag	p.Q276K	ZNF764_uc002dyr.2_Missense_Mutation_p.Q275K	NM_033410	NP_219363	Q96H86	ZN764_HUMAN	Homo sapiens zinc finger protein 764 (ZNF764), transcript variant 1, mRNA.	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						CGCCGGTGCTGGTAGAGGGCA	0.726													3	9					0.115264	0.121331	1	1	0	T	30566916	G	T	30566916	3	4	182	1	0	0	0	0	1	0	0	0	18135	1357	47	5	404	5	ZNF764	16	30566916	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08	10095327	30566916	59787837	40	7933											
TMCO7	79613	broad.mit.edu	37	chr16	68900994	68900994	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctcagtcctgcacagatGtgaagacacagatgaggtgt	11	11	11	8	0	1	5	1	2	1	3	3	5	2	5	1	1	1	1	1	1	1	1			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr16:68900994G>A	uc002ewi.4	+	3	877	c.865G>A	c.(865-867)Gtg>Atg	p.V289M	TMCO7_uc002ewh.3_Missense_Mutation_p.V289M	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	Homo sapiens transmembrane and coiled-coil domains 7 (TMCO7), mRNA.	289						integral to membrane	binding			endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|prostate(2)	20		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		CTGCACAGATGTGAAGACACA	0.473													38	78					0	0	1	0	0	A	68900994	G	A	68900994	3	1	182	1	0	0	0	0	1	0	0	0	15998	1377	48	3	879	3	TMCO7	16	68900994	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08	38334078	68900994	21453759	41	7934											
CLDN7	1366	broad.mit.edu	37	chr17	7163696	7163696	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaggagatcccaggtcaCacatactccttggaagagtt	12	8	11	10	0	1	2	1	0	0	2	3	4	3	3	2	4	1	2	2	4	3	3			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:7163696C>T	uc002gfm.4	-	3	1535	c.633G>A	c.(631-633)gtG>gtA	p.V211V	CLDN7_uc010cmc.3_3'UTR|CLDN7_uc002gfn.4_Silent_p.V211V	NM_001307	NP_001298	O95471	CLD7_HUMAN	Homo sapiens claudin 7 (CLDN7), transcript variant 1, mRNA.	211	Interactions with TJP1, TJP2 and TJP3 (By similarity).				calcium-independent cell-cell adhesion	integral to membrane|lateral plasma membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						TCCCAGGTCACACATACTCCT	0.597													7	153					0	0	1	0	0	T	7163696	C	T	7163696	2	4	182	1	0	0	0	0	0	0	0	1	3490	465	17	3		3	CLDN7	17	7163696	Silent	SNP	C	TCGA-HT-7605-01A-11D-2086-08		7163696	74031514	42	7935											
DNAH2	146754	broad.mit.edu	37	chr17	7708392	7708392	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccctggaagaggccatgcgGgtaccaggggcgggtgcaag	8	4	19	10	2	0	1	0	0	0	1	0	2	0	2	3	6	3	2	3	6	3	1			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:7708392G>A	uc002giu.1	+	59	9314	c.9300_splice	c.e59+1	p.R3100_splice	DNAH2_uc010cnm.1_Intron	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3100	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGGCCATGCGGGTACCAGGGG	0.582													3	67					0	0	1	0	0	A	7708392	G	A	7708392	5	1	182	1	0	0	0	0	0	0	1	0	4602	1246	43	3	9534	3	DNAH2	17	7708392	Splice_Site	SNP	G	TCGA-HT-7605-01A-11D-2086-08	544696	7708392	73486818	43	7936											
KDM6B	23135	broad.mit.edu	37	chr17	7752905	7752905	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcacttagtgaggggccccCcaaggagctgaagatccggc	9	6	13	13	1	1	3	1	2	0	1	2	4	2	4	4	4	1	1	4	4	3	1			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:7752905C>A	uc002gix.3	+	0	2042	c.1205C>A	c.(1204-1206)cCc>cAc	p.P402H	KDM6B_uc002giw.1_Missense_Mutation_p.P1100H	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.	1100	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						GAGGGGCCCCCCAAGGAGCTG	0.632													3	30					2.56e-06	2.84444e-06	1	1	0	A	7752905	C	A	7752905	3	1	182	1	0	0	0	0	1	0	0	0	8138	623	22	5	3329	5	KDM6B	17	7752905	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08	44513	7752905	73442305	44	7937											
MYH8	4626	broad.mit.edu	37	chr17	10303716	10303716	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtattgggtaccttggctttGgaaatggcctctgcgttact	6	15	12	8	1	1	0	0	0	1	0	1	1	1	1	2	4	3	4	2	4	4	6			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:10303716G>A	uc002gmm.2	-	26	3821	c.3726C>T	c.(3724-3726)tcC>tcT	p.S1242S	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1242					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCTTGGCTTTGGAAATGGCCT	0.438									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				59	180					0	0	1	0	0	A	10303716	G	A	10303716	2	1	182	1	0	0	0	0	0	0	0	1	10041	1335	47	3		3	MYH8	17	10303716	Silent	SNP	G	TCGA-HT-7605-01A-11D-2086-08	2550811	10303716	70891494	45	7938											
TBC1D28	254272	broad.mit.edu	37	chr17	18539791	18539791	+	Frame_Shift_Del	DEL	C	C	-																															attttcaagaagttgcaacaCccccgagagacacccatgcc																										TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:18539791delC	uc002gud.2	-	9	1029	c.617delG	c.(616-618)ggtfs	p.G206fs		NM_001039397	NP_001034486	Q2M2D7	TBC28_HUMAN	Homo sapiens TBC1 domain family, member 28 (TBC1D28), mRNA.	206	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.G205W(1)		breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						AGTTGCAACACCCCCGAGAGA	0.532													10	176	---	---	---	---						-	18539791	C	-	18539791	7	5	182	1	0	1	0	1	0	0	0	0	15614	507	18	0	19	0	TBC1D28	17	18539791	Frame_Shift_Del	DEL	C	TCGA-HT-7605-01A-11D-2086-08	8236075	18539791	62655419	46	7939											
SLC25A39	51629	broad.mit.edu	37	chr17	42399117	42399117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtgccctcgtgcctcaCgatcttcacgaaggcatcct	6	10	9	16	3	3	0	2	0	1	0	5	2	4	0	4	2	2	1	4	2	1	1			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:42399117C>T	uc002ign.2	-	5	497	c.343G>A	c.(343-345)Gtg>Atg	p.V115M	SLC25A39_uc002igm.2_Missense_Mutation_p.V107M|SLC25A39_uc010wiw.1_Missense_Mutation_p.V92M|SLC25A39_uc010wix.1_Missense_Mutation_p.V107M|SLC25A39_uc010wiy.1_Missense_Mutation_p.V100M	NM_001143780	NP_001137252	Q9BZJ4	S2539_HUMAN	Homo sapiens solute carrier family 25, member 39 (SLC25A39), transcript variant 1, mRNA.	115					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCGTGCCTCACGATCTTCACG	0.637													13	38					0	0	1	0	0	T	42399117	C	T	42399117	3	4	182	1	0	0	0	0	1	0	0	0	14503	536	19	1	764	1	SLC25A39	17	42399117	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08	23859326	42399117	38796093	47	7940											
CACNA1G	8913	broad.mit.edu	37	chr17	48652951	48652951	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcctggtggtgattgccacGcagttctcagagaccaagca	9	9	12	11	1	1	2	1	1	1	1	2	3	1	2	3	2	3	3	3	2	1	2			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:48652951G>A	uc002irk.1	+	7	1560	c.1188G>A	c.(1186-1188)acG>acA	p.T396T	CACNA1G_uc002iri.1_Silent_p.T396T|CACNA1G_uc002irj.1_Silent_p.T396T|CACNA1G_uc002irl.1_Silent_p.T396T|CACNA1G_uc002irm.1_Silent_p.T396T|CACNA1G_uc002irn.1_Silent_p.T396T|CACNA1G_uc002iro.1_Silent_p.T396T|CACNA1G_uc002irp.1_Silent_p.T396T|CACNA1G_uc002irq.1_Silent_p.T396T|CACNA1G_uc002irr.1_Silent_p.T396T|CACNA1G_uc002irs.1_Silent_p.T396T|CACNA1G_uc002irt.1_Silent_p.T396T|CACNA1G_uc002iru.1_Silent_p.T396T|CACNA1G_uc002irv.1_Silent_p.T396T|CACNA1G_uc002irw.1_Silent_p.T396T|CACNA1G_uc002irx.1_Silent_p.T309T|CACNA1G_uc002iry.1_Silent_p.T309T|CACNA1G_uc002isg.1_Silent_p.T309T|CACNA1G_uc002ish.1_Silent_p.T309T|CACNA1G_uc002isi.1_Silent_p.T309T|CACNA1G_uc002irz.1_Silent_p.T309T|CACNA1G_uc002isa.1_Silent_p.T309T|CACNA1G_uc002isd.1_Silent_p.T309T|CACNA1G_uc002isb.1_Silent_p.T309T|CACNA1G_uc002isc.1_Silent_p.T309T|CACNA1G_uc002ise.1_Silent_p.T309T|CACNA1G_uc002isf.1_Silent_p.T309T	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	396					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.A395A(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGATTGCCACGCAGTTCTCAG	0.572													19	46					0	0	1	0	0	A	48652951	G	A	48652951	2	1	182	1	0	0	0	0	0	0	0	1	2544	1074	38	1		1	CACNA1G	17	48652951	Silent	SNP	G	TCGA-HT-7605-01A-11D-2086-08	6253834	48652951	32542259	48	7941											
KANK3	256949	broad.mit.edu	37	chr19	8398111	8398111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgggccacgaggcgcactgCgccctgcaagggacaggggc	7	3	17	14	3	0	0	0	0	0	0	0	2	0	1	2	5	2	2	2	5	1	0			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr19:8398111C>T	uc010dwa.3	-	6	1789	c.1723G>A	c.(1723-1725)Gca>Aca	p.A575T	KANK3_uc002mjp.1_Missense_Mutation_p.R120H	NM_198471	NP_940873	Q6NY19	KANK3_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 3 (KANK3), mRNA.	575										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						AGGCGCACTGCGCCCTGCAAG	0.697													3	33					0	0	1	0	0	T	8398111	C	T	8398111	3	4	182	1	0	0	0	0	1	0	0	0	7978	768	27	1	762	1	KANK3	19	8398111	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08		8398111	50730872	49	7942											
NFIX	4784	broad.mit.edu	37	chr19	13192587	13192589	+	In_Frame_Del	DEL	ACC	ACC	-																															cacgcacccgaccatccgctAccaccaccaccacgggcagg																										TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr19:13192587_13192589delACC	uc010xmx.2	+	7	1249_1251	c.1196_1198delACC	c.(1195-1200)taccac>tac	p.H403del	NFIX_uc002mwd.3_In_Frame_Del_p.H395del|NFIX_uc002mwe.3_In_Frame_Del_p.H387del|NFIX_uc002mwf.3_In_Frame_Del_p.H357del|NFIX_uc002mwg.2_In_Frame_Del_p.H394del			Q14938	NFIX_HUMAN	Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.	395					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			ACCATCCGCTACCACCACCACCA	0.645											OREG0025286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	119	---	---	---	---						-	13192589	ACC	-	13192587	7	5	182	1	0	1	0	1	0	0	0	0	10374	391	14	0	1202	0	NFIX	19	13192587	In_Frame_Del	DEL	ACC	TCGA-HT-7605-01A-11D-2086-08	4794476	13192587	45936396	50	7943											
HAS1	3036	broad.mit.edu	37	chr19	52220383	52220383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcccctacccgggggtcctCgtccagtacccgcacgagct	6	6	11	18	4	0	0	0	0	0	0	3	1	2	0	6	2	4	3	6	2	2	2			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr19:52220383C>T	uc002pxn.1	-	1	800	c.787G>A	c.(787-789)Gag>Aag	p.E263K	HAS1_uc010epc.1_5'UTR|HAS1_uc010epd.1_Missense_Mutation_p.E221K|HAS1_uc002pxo.1_Missense_Mutation_p.E256K|HAS1_uc002pxp.1_Missense_Mutation_p.E255K	NM_001523	NP_001514	Q92839	HAS1_HUMAN	Homo sapiens hyaluronan synthase 1 (HAS1), mRNA.	256					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CGGGGGTCCTCGTCCAGTACC	0.622													13	69					0	0	1	0	0	T	52220383	C	T	52220383	3	4	182	1	0	0	0	0	1	0	0	0	6961	893	31	2	982	2	HAS1	19	52220383	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08	39027796	52220383	6908600	51	7944											
TAF1	6872	broad.mit.edu	37	chrX	70626502	70626502	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttagtgcggatgaggttcGcagaaaatctctggttctca	9	14	11	7	2	2	2	1	1	2	1	5	3	2	3	0	3	1	3	0	3	3	4			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chrX:70626502G>T	uc004dzu.4	+	25	4061	c.4010G>T	c.(4009-4011)cGc>cTc	p.R1337L	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.R1358L|TAF1_uc004dzv.4_Missense_Mutation_p.R511L|TAF1_uc010nld.1_Non-coding_Transcript|TAF1_uc010nle.1_Non-coding_Transcript|TAF1_uc010nlf.1_5'UTR|TAF1_uc004dzx.2_Non-coding_Transcript|TAF1_uc004dzy.2_Non-coding_Transcript	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	1337					G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GATGAGGTTCGCAGAAAATCT	0.398													6	37					5.18039e-06	5.65134e-06	1	1	0	T	70626502	G	T	70626502	3	4	182	1	0	0	0	0	1	0	0	0	15510	1087	38	5	4175	5	TAF1	23	70626502	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08		70626502	84644058	52	7945											
FMR1NB	158521	broad.mit.edu	37	chrX	147106438	147106438	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagagttgtaacgggtttgaAgaaacaaagaaggaagcgaa	18	6	13	4	2	0	4	0	1	0	3	0	6	0	5	0	2	3	3	0	2	7	3			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chrX:147106438A>G	uc004fcm.3	+	4	760	c.686A>G	c.(685-687)aAg>aGg	p.K229R		NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	Homo sapiens fragile X mental retardation 1 neighbor (FMR1NB), mRNA.	229						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ACGGGTTTGAAGAAACAAAGA	0.413													3	45					0	0	1	0	0	G	147106438	A	G	147106438	3	3	182	1	0	0	0	0	1	0	0	0	5961	72	3	4	704	4	FMR1NB	23	147106438	Missense_Mutation	SNP	A	TCGA-HT-7605-01A-11D-2086-08	76479936	147106438	8164122	53	7946											
FGR	2268	broad.mit.edu	37	chr1	27943402	27943402	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagctcctgcaccgagttGaactgaacccgtgtggtgat	9	9	11	12	2	0	3	0	3	0	0	1	4	1	3	4	1	4	3	4	1	2	1			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr1:27943402G>A	uc001boj.3	-	4	794	c.648C>T	c.(646-648)ttC>ttT	p.F216F	FGR_uc001boi.3_5'Flank|FGR_uc001bok.3_Silent_p.F216F|FGR_uc001bol.3_Silent_p.F216F|FGR_uc001bom.3_Silent_p.F216F	NM_005248	NP_005239	P09769	FGR_HUMAN	Homo sapiens Gardner-Rasheed feline sarcoma viral (v-fgr) oncogene homolog (FGR), transcript variant 1, mRNA.	216	SH2.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GCACCGAGTTGAACTGAACCC	0.562													47	101					0	0	1	0	0	A	27943402	G	A	27943402	2	1	183	1	0	0	0	0	0	0	0	1	5874	1281	45	3		3	FGR	1	27943402	Silent	SNP	G	TCGA-HT-7606-01A-11D-2086-08		27943402	221307219	1	7947											
ZSCAN20	7579	broad.mit.edu	37	chr1	33960425	33960425	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaccagtgtagtgagccTgggggaaactttgcccaaag	10	8	13	10	0	0	2	0	2	0	0	0	3	0	3	4	2	3	1	4	2	3	2			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr1:33960425T>G	uc001bxj.4	+	7	2648	c.2481T>G	c.(2479-2481)ccT>ccG	p.P827P	ZSCAN20_uc009vui.3_Silent_p.P826P	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	827					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GTAGTGAGCCTGGGGGAAACT	0.448													77	112					0	0	1	0	0	G	33960425	T	G	33960425	2	3	183	1	0	0	0	0	0	0	0	1	18229	1567	55	5		5	ZSCAN20	1	33960425	Silent	SNP	T	TCGA-HT-7606-01A-11D-2086-08	6017023	33960425	215290196	2	7948											
LRRC8D	55144	broad.mit.edu	37	chr1	90400076	90400076	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgctgtcgggggtgccCgatgctgtctttgacctcac	4	13	12	12	2	3	1	2	1	1	0	4	2	3	1	2	2	3	2	2	2	0	2			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr1:90400076C>T	uc021opq.1	+	0	1449	c.1449C>T	c.(1447-1449)ccC>ccT	p.P483P	LRRC8D_uc001dnm.3_Silent_p.P483P|LRRC8D_uc001dnn.3_Silent_p.P483P	NM_018103	NP_060573	Q7L1W4	LRC8D_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member D (LRRC8D), transcript variant 2, mRNA.	483						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CGGGGGTGCCCGATGCTGTCT	0.468													13	28					0	0	1	0	0	T	90400076	C	T	90400076	2	4	183	1	0	0	0	0	0	0	0	1	9024	639	23	2		2	LRRC8D	1	90400076	Silent	SNP	C	TCGA-HT-7606-01A-11D-2086-08	56439651	90400076	158850545	3	7949											
CFHR5	81494	broad.mit.edu	37	chr1	196953247	196953247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacggggctggtccactcCtcccatatgcagcttcacta	9	9	9	14	1	1	1	1	0	0	1	4	1	4	1	3	3	3	3	3	3	3	3			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr1:196953247C>T	uc001gts.4	+	2	538	c.410C>T	c.(409-411)cCt>cTt	p.P137L		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	137	Sushi 2.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TGGTCCACTCCTCCCATATGC	0.348													15	31					0	0	1	0	0	T	196953247	C	T	196953247	3	4	183	1	0	0	0	0	1	0	0	0	3288	681	24	3	420	3	CFHR5	1	196953247	Missense_Mutation	SNP	C	TCGA-HT-7606-01A-11D-2086-08	106553171	196953247	52297374	4	7950											
ASPM	259266	broad.mit.edu	37	chr1	197091601	197091601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataccactgaaccagtttgcGtacattccacagtttgagta	12	12	7	10	1	0	2	0	2	0	0	1	2	1	2	3	0	4	4	3	0	4	6			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr1:197091601G>A	uc001gtu.3	-	13	3772	c.3515C>T	c.(3514-3516)aCg>aTg	p.T1172M	ASPM_uc001gtv.3_Missense_Mutation_p.T1172M|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	1172	CH 2.				mitosis	cytoplasm|nucleus	calmodulin binding	p.T1172M(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACCAGTTTGCGTACATTCCAC	0.413													9	19					0	0	1	0	0	A	197091601	G	A	197091601	3	1	183	1	0	0	0	0	1	0	0	0	1056	1145	40	1	6978	1	ASPM	1	197091601	Missense_Mutation	SNP	G	TCGA-HT-7606-01A-11D-2086-08	138354	197091601	52159020	5	7951											
C2orf16	84226	broad.mit.edu	37	chr2	27804533	27804533	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagacatcgcagtccctcTcagaggagccatcgtggtcc	10	7	11	13	2	1	3	1	0	1	3	6	4	3	4	3	2	1	1	3	2	1	0	rs112180798		TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr2:27804533T>C	uc002rkz.4	+	0	5145	c.5094T>C	c.(5092-5094)tcT>tcC	p.S1698S	ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1698	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GCAGTCCCTCTCAGAGGAGCC	0.587													5	132					0	0	1	0	0	C	27804533	T	C	27804533	2	2	183	1	0	0	0	0	0	0	0	1	2157	1538	54	4		4	C2orf16	2	27804533	Silent	SNP	T	TCGA-HT-7606-01A-11D-2086-08		27804533	215394840	6	7952											
CCDC150	284992	broad.mit.edu	37	chr2	197585312	197585312	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttttagggatctcaatcaaCagagggtgcagaagctggaa	13	10	12	6	0	2	2	2	0	1	2	3	4	2	4	0	3	3	2	0	3	5	3			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr2:197585312C>A	uc002utp.1	+	19	2314	c.2179C>A	c.(2179-2181)Cag>Aag	p.Q727K	CCDC150_uc010zgs.1_Missense_Mutation_p.Q374K|CCDC150_uc010zgt.1_Missense_Mutation_p.Q144K|CCDC150_uc002utq.1_Missense_Mutation_p.Q42K|CCDC150_uc002utr.1_Missense_Mutation_p.Q42K	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA.	727										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TCTCAATCAACAGAGGGTGCA	0.448													8	31					5.18039e-06	5.37226e-06	1	1	0	A	197585312	C	A	197585312	3	1	183	1	0	0	0	0	1	0	0	0	2785	479	17	5	2257	5	CCDC150	2	197585312	Missense_Mutation	SNP	C	TCGA-HT-7606-01A-11D-2086-08	169780779	197585312	45614061	7	7953											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								27	39					0	0	1	0	0	T	209113112	C	T	209113112	3	4	183	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7606-01A-11D-2086-08	11527800	209113112	34086261	8	7954											
VIL1	7429	broad.mit.edu	37	chr2	219295519	219295519	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgatggggctgagtcggcCgtctttcagcagctcttcca	7	11	12	11	2	3	2	1	2	2	0	5	2	4	2	2	3	2	3	2	3	1	2			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr2:219295519C>T	uc002vib.3	+	8	1042	c.1020C>T	c.(1018-1020)gcC>gcT	p.A340A	VIL1_uc010zke.2_Silent_p.A29A|VIL1_uc002via.3_Silent_p.A340A|VIL1_uc002vic.1_Silent_p.A340A	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	340	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGAGTCGGCCGTCTTTCAGC	0.597													13	34					0	0	1	0	0	T	219295519	C	T	219295519	2	4	183	1	0	0	0	0	0	0	0	1	17161	639	23	2		2	VIL1	2	219295519	Silent	SNP	C	TCGA-HT-7606-01A-11D-2086-08	10182407	219295519	23903854	9	7955											
PCDH18	54510	broad.mit.edu	37	chr4	138452008	138452008	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagattaaataattgtttTcatatgtcttctgaagttta	13	20	5	3	0	3	2	1	1	2	1	3	2	3	2	0	0	0	2	0	0	7	10			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr4:138452008T>C	uc003ihe.4	-	0	1622	c.1235A>G	c.(1234-1236)gAa>gGa	p.E412G	PCDH18_uc003ihf.4_Missense_Mutation_p.E405G|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Missense_Mutation_p.E192G|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	412	Cadherin 4.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ATAATTGTTTTCATATGTCTT	0.403													3	23					0	0	1	0	0	C	138452008	T	C	138452008	3	2	183	1	0	0	0	0	1	0	0	0	11513	1783	62	3	2188	3	PCDH18	4	138452008	Missense_Mutation	SNP	T	TCGA-HT-7606-01A-11D-2086-08		138452008	52702268	10	7956											
PCDHAC2	56134	broad.mit.edu	37	chr5	140249016	140249016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatccacctggaggtgatcGtggacaggccgctgcaggtt	7	8	15	11	2	0	1	0	1	0	0	2	3	1	3	3	5	1	4	3	5	0	1			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr5:140249016G>A	uc003lia.2	+	0	1186	c.328G>A	c.(328-330)Gtg>Atg	p.V110M	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.V110M	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	125	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGGTGATCGTGGACAGGCC	0.552													122	134					0	0	1	0	0	A	140249016	G	A	140249016	3	1	183	1	0	0	0	0	1	0	0	0	11533	1145	40	1		1	PCDHAC2	5	140249016	Missense_Mutation	SNP	G	TCGA-HT-7606-01A-11D-2086-08		140249016	40666244	11	7957											
DUSP22	56940	broad.mit.edu	37	chr6	348774	348774	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttccatcctctccagtatcgGcagtggctgaaggaagaata	11	10	10	10	1	1	2	0	1	1	1	5	3	3	3	3	3	0	3	3	3	5	3			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr6:348774G>T	uc003msx.3	+	6	880	c.441G>T	c.(439-441)cgG>cgT	p.R147R	DUSP22_uc011dhn.1_Silent_p.R147R|DUSP22_uc003msy.1_Silent_p.R104R	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	Homo sapiens dual specificity phosphatase 22 (DUSP22), mRNA.	147					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TCCAGTATCGGCAGTGGCTGA	0.522													18	75					2.98393e-07	3.15283e-07	1	1	0	T	348774	G	T	348774	2	4	183	1	0	0	0	0	0	0	0	1	4821	1190	42	5		5	DUSP22	6	348774	Silent	SNP	G	TCGA-HT-7606-01A-11D-2086-08		348774	170766293	12	7958											
FIGNL1	63979	broad.mit.edu	37	chr7	50513534	50513534	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttgcaacagcaaacaaTgcacggaccattttctcccc	12	8	5	16	1	1	0	0	0	1	0	2	1	1	1	4	1	5	3	4	1	3	3			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr7:50513534T>C	uc003tpd.3	-	3	1822	c.1452A>G	c.(1450-1452)gcA>gcG	p.A484A	FIGNL1_uc003tpb.3_Silent_p.A373A|FIGNL1_uc003tpc.3_Silent_p.A484A|FIGNL1_uc003tpe.3_Silent_p.A484A|FIGNL1_uc010kyy.3_Silent_p.A484A|FIGNL1_uc022ada.1_Silent_p.A484A	NM_022116	NP_071399	Q6PIW4	FIGL1_HUMAN	Homo sapiens fidgetin-like 1 (FIGNL1), transcript variant 2, mRNA.	484					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				CAGCAAACAATGCACGGACCA	0.443													43	59					0	0	1	0	0	C	50513534	T	C	50513534	2	2	183	1	0	0	0	0	0	0	0	1	5892	1451	51	3		3	FIGNL1	7	50513534	Silent	SNP	T	TCGA-HT-7606-01A-11D-2086-08		50513534	108625129	13	7959											
ZNF138	7697	broad.mit.edu	37	chr7	64292367	64292367	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataattcgtactggagaaaaAccctataaatgtgcacactg	16	10	7	8	1	0	1	0	0	0	1	1	2	0	1	1	1	3	2	1	1	7	5			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr7:64292367A>C	uc011kdq.2	+	2	845	c.669A>C	c.(667-669)aaA>aaC	p.K223N	ZNF138_uc003ttg.3_Missense_Mutation_p.K192N|ZNF138_uc003tth.3_Non-coding_Transcript|ZNF138_uc010kzs.3_Missense_Mutation_p.K217N|ZNF138_uc011kdp.2_3'UTR	NM_006524	NP_006515	B4DP87	B4DP87_HUMAN	Homo sapiens zinc finger protein 138 (ZNF138), transcript variant 1, mRNA.	223					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.K192K(1)		kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				CTGGAGAAAAACCCTATAAAT	0.368													16	13					0	0	1	0	0	C	64292367	A	C	64292367	3	2	183	1	0	0	0	0	1	0	0	0	17724	40	2	5	902	5	ZNF138	7	64292367	Missense_Mutation	SNP	A	TCGA-HT-7606-01A-11D-2086-08	13778833	64292367	94846296	14	7960											
SEMA3C	10512	broad.mit.edu	37	chr7	80374454	80374454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatggggaccatttgtccGtcacaacagccaccatttct	9	11	7	14	1	2	0	1	0	1	0	4	1	4	1	5	2	2	0	5	2	1	2			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr7:80374454G>A	uc011kgw.2	-	17	2145	c.2066C>T	c.(2065-2067)aCg>aTg	p.T689M	SEMA3C_uc003uhj.3_Missense_Mutation_p.T671M	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	671					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						CCATTTGTCCGTCACAACAGC	0.478													19	31					0	0	1	0	0	A	80374454	G	A	80374454	3	1	183	1	0	0	0	0	1	0	0	0	14026	1145	40	1	247	1	SEMA3C	7	80374454	Missense_Mutation	SNP	G	TCGA-HT-7606-01A-11D-2086-08	16082087	80374454	78764209	15	7961											
JPH1	56704	broad.mit.edu	37	chr8	75171665	75171665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctggccacagctctcgCgatgtcgcactcctggcgag	5	8	11	17	4	1	0	0	0	1	0	5	2	3	0	3	2	1	2	3	2	0	0			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr8:75171665C>T	uc003yae.3	-	2	1253	c.1213G>A	c.(1213-1215)Gcg>Acg	p.A405T	JPH1_uc003yaf.3_Missense_Mutation_p.A405T|JPH1_uc003yag.1_Missense_Mutation_p.A269T	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	405	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			ACAGCTCTCGCGATGTCGCAC	0.607													18	22					0	0	1	0	0	T	75171665	C	T	75171665	3	4	183	1	0	0	0	0	1	0	0	0	7960	768	27	1	784	1	JPH1	8	75171665	Missense_Mutation	SNP	C	TCGA-HT-7606-01A-11D-2086-08		75171665	71192357	16	7962											
NUDCD1	84955	broad.mit.edu	37	chr8	110287672	110287672	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccccttgtttatctccaattActagctctggccaggtcagt	7	14	7	13	0	3	0	1	0	2	0	4	0	3	0	4	2	2	2	4	2	4	5			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr8:110287672A>C	uc003ynb.4	-	6	1193	c.1082T>G	c.(1081-1083)gTa>gGa	p.V361G	NUDCD1_uc003yna.3_Missense_Mutation_p.V332G|NUDCD1_uc010mcl.3_Missense_Mutation_p.V274G|NUDCD1_uc010mcm.1_Missense_Mutation_p.V274G	NM_032869	NP_116258	Q96RS6	NUDC1_HUMAN	Homo sapiens NudC domain containing 1 (NUDCD1), transcript variant 1, mRNA.	361	CS.									breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			ATCTCCAATTACTAGCTCTGG	0.383													10	21					0	0	1	0	0	C	110287672	A	C	110287672	3	2	183	1	0	0	0	0	1	0	0	0	10722	391	14	5	685	5	NUDCD1	8	110287672	Missense_Mutation	SNP	A	TCGA-HT-7606-01A-11D-2086-08	35116007	110287672	36076350	17	7963											
EPPK1	83481	broad.mit.edu	37	chr8	144940576	144940576	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggccacggcctcctccacCgacagcctcaggttgcgcac	6	5	11	19	4	1	0	1	0	0	0	3	1	3	0	6	3	2	2	6	3	0	1			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr8:144940576C>T	uc003zaa.1	-	0	6859	c.6846G>A	c.(6844-6846)tcG>tcA	p.S2282S		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2282						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTCCTCCACCGACAGCCTCA	0.736													3	64					0	0	1	0	0	T	144940576	C	T	144940576	2	4	183	1	0	0	0	0	0	0	0	1	5190	639	23	2		2	EPPK1	8	144940576	Silent	SNP	C	TCGA-HT-7606-01A-11D-2086-08	34652904	144940576	1423446	18	7964											
ZFP37	7539	broad.mit.edu	37	chr9	115811700	115811700	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggacaaccttgactgggTcttttccccttccccaacca	7	12	6	16	0	1	1	0	1	1	0	3	2	3	2	6	2	2	0	6	2	2	5			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr9:115811700T>C	uc011lwz.1	-	2	364	c.336A>G	c.(334-336)agA>agG	p.R112R	ZFP37_uc004bgm.1_Silent_p.R97R|ZFP37_uc011lxa.1_Silent_p.R98R	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	Homo sapiens zinc finger protein 37 homolog (mouse) (ZFP37), mRNA.	97						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTTGACTGGGTCTTTTCCCCT	0.403													22	6					0	0	1	0	0	C	115811700	T	C	115811700	2	2	183	1	0	0	0	0	0	0	0	1	17645	1664	58	3		3	ZFP37	9	115811700	Silent	SNP	T	TCGA-HT-7606-01A-11D-2086-08		115811700	25401731	19	7965											
DDX31	64794	broad.mit.edu	37	chr9	135522404	135522404	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtccaggacagaaatacTgactggatcatgcaaactga	14	9	9	9	0	1	3	1	2	0	1	2	5	2	5	1	2	3	1	1	2	3	2			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr9:135522404T>C	uc004cbq.1	-	11	1476	c.1324A>G	c.(1324-1326)Agt>Ggt	p.S442G	DDX31_uc010mzu.1_Missense_Mutation_p.S442G|DDX31_uc004cbr.1_Missense_Mutation_p.S442G	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 (DDX31), transcript variant 1, mRNA.	442	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		ACAGAAATACTGACTGGATCA	0.493													31	44					0	0	1	0	0	C	135522404	T	C	135522404	3	2	183	1	0	0	0	0	1	0	0	0	4356	1580	55	4	1274	4	DDX31	9	135522404	Missense_Mutation	SNP	T	TCGA-HT-7606-01A-11D-2086-08	19710704	135522404	5691027	20	7966											
ANK3	288	broad.mit.edu	37	chr10	61958113	61958113	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catacctttgttgttatagaTaaagacgctccatgatccaa	13	13	6	9	1	0	3	0	1	0	2	2	3	2	3	3	0	1	3	3	0	6	6			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr10:61958113T>C	uc001jky.3	-	13	2012	c.1674A>G	c.(1672-1674)ttA>ttG	p.L558L	ANK3_uc010qih.2_Silent_p.L541L|ANK3_uc001jkz.4_Silent_p.L552L|ANK3_uc001jlb.1_Silent_p.L87L|ANK3_uc001jlc.1_Silent_p.L219L	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	558					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.S557P(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTGTTATAGATAAAGACGCTC	0.498													11	15					0	0	1	0	0	C	61958113	T	C	61958113	2	2	183	1	0	0	0	0	0	0	0	1	622	1403	49	3		3	ANK3	10	61958113	Silent	SNP	T	TCGA-HT-7606-01A-11D-2086-08		61958113	73576634	21	7967											
OR2AG2	338755	broad.mit.edu	37	chr11	6789589	6789589	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaaagtcacacctgtcacGtatattataagctcatacct	14	11	6	10	1	3	0	3	0	0	0	3	1	3	1	2	1	2	2	2	1	6	5			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr11:6789589G>A	uc001meq.1	-	0	600	c.600C>T	c.(598-600)taC>taT	p.Y200Y		NM_001004490	NP_001004490	A6NM03	O2AG2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AG, member 2 (OR2AG2), mRNA.	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CACCTGTCACGTATATTATAA	0.493													10	15					0	0	1	0	0	A	6789589	G	A	6789589	2	1	183	1	0	0	0	0	0	0	0	1	10985	1140	40	1		1	OR2AG2	11	6789589	Silent	SNP	G	TCGA-HT-7606-01A-11D-2086-08		6789589	128216927	22	7968											
SIPA1	6494	broad.mit.edu	37	chr11	65408733	65408733	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccaccagtgcttgagcctcGatggtttgcccactatgacg	7	10	10	14	2	0	2	0	2	0	0	1	3	0	2	4	1	3	2	4	1	1	3			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr11:65408733G>A	uc001ofb.2	+	1	508	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	SIPA1_uc010rom.1_Missense_Mutation_p.R114Q|SIPA1_uc001ofd.2_Missense_Mutation_p.R114Q	NM_006747	NP_694985	Q96FS4	SIPA1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA.	114					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CTTGAGCCTCGATGGTTTGCC	0.632													52	75					0	0	1	0	0	A	65408733	G	A	65408733	3	1	183	1	0	0	0	0	1	0	0	0	14328	1058	37	2	343	2	SIPA1	11	65408733	Missense_Mutation	SNP	G	TCGA-HT-7606-01A-11D-2086-08	58619144	65408733	69597783	23	7969											
PLEKHA5	54477	broad.mit.edu	37	chr12	19489486	19489486	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagaatatgataagttagAatacgatgtaactgttacca	17	11	9	4	1	0	3	0	1	0	2	0	6	0	3	1	0	3	3	1	0	8	6			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr12:19489486A>C	uc001reb.3	+	15	2285	c.2177A>C	c.(2176-2178)gAa>gCa	p.E726A	PLEKHA5_uc010sie.2_Missense_Mutation_p.E829A|PLEKHA5_uc001rea.3_Missense_Mutation_p.E784A|PLEKHA5_uc009zin.3_Missense_Mutation_p.E484A|PLEKHA5_uc010sig.2_Missense_Mutation_p.E645A|PLEKHA5_uc010sih.1_Missense_Mutation_p.E618A|PLEKHA5_uc021qvy.1_Missense_Mutation_p.E657A|PLEKHA5_uc001rec.1_Missense_Mutation_p.E472A|PLEKHA5_uc009zio.3_Missense_Mutation_p.E48A	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	726							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GATAAGTTAGAATACGATGTA	0.348													20	28					0	0	1	0	0	C	19489486	A	C	19489486	3	2	183	1	0	0	0	0	1	0	0	0	12059	246	9	5	2364	5	PLEKHA5	12	19489486	Missense_Mutation	SNP	A	TCGA-HT-7606-01A-11D-2086-08		19489486	114362409	24	7970											
KCNJ8	3764	broad.mit.edu	37	chr12	21926252	21926252	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccatgtaagcatagatgTccccatgggcaaaggccacc	11	8	9	13	0	1	1	0	0	1	1	3	1	2	1	5	2	1	3	5	2	3	2			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr12:21926252T>C	uc001rff.3	-	1	637	c.299A>G	c.(298-300)gAc>gGc	p.D100G		NM_004982	NP_004973	Q15842	IRK8_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 8 (KCNJ8), mRNA.	100						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	AGCATAGATGTCCCCATGGGC	0.507											OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	33	34					0	0	1	0	0	C	21926252	T	C	21926252	3	2	183	1	0	0	0	0	1	0	0	0	8056	1667	58	3	983	3	KCNJ8	12	21926252	Missense_Mutation	SNP	T	TCGA-HT-7606-01A-11D-2086-08	2436766	21926252	111925643	25	7971											
LRRK1	79705	broad.mit.edu	37	chr15	101588788	101588788	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagaaatcgctgtagcacAttcagagtgaaaagaaatca	18	7	9	7	1	2	4	2	1	0	3	3	5	2	4	0	0	1	3	0	0	5	2			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr15:101588788A>G	uc002bwr.3	+	21	3544	c.3225A>G	c.(3223-3225)acA>acG	p.T1075T	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Intron	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	1075					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCTGTAGCACATTCAGAGTGA	0.448													45	28					0	0	1	0	0	G	101588788	A	G	101588788	2	3	183	1	0	0	0	0	0	0	0	1	9032	204	8	3		3	LRRK1	15	101588788	Silent	SNP	A	TCGA-HT-7606-01A-11D-2086-08		101588788	942604	26	7972											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			8	0					0	0	1	0	0	A	7577121	G	A	7577121	3	1	183	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-7606-01A-11D-2086-08		7577121	73618089	27	7973											
GAS2L2	246176	broad.mit.edu	37	chr17	34079638	34079638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtgcctcagccaggaaggCcagggcagcgtcagtgacaa	11	4	15	11	1	2	1	2	1	0	0	2	2	2	2	3	4	3	1	3	4	2	0			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr17:34079638C>T	uc002hjv.2	-	0	260	c.232G>A	c.(232-234)Gcc>Acc	p.A78T		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	78	CH.				cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCCAGGAAGGCCAGGGCAGCG	0.652													21	30					0	0	1	0	0	T	34079638	C	T	34079638	3	4	183	1	0	0	0	0	1	0	0	0	6247	739	26	3	2434	3	GAS2L2	17	34079638	Missense_Mutation	SNP	C	TCGA-HT-7606-01A-11D-2086-08	26502517	34079638	47115572	28	7974											
HELZ	9931	broad.mit.edu	37	chr17	65174991	65174991	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttagaggaagaatcccaaCgtttagctgtggttactagc	11	12	10	8	1	1	2	0	0	1	2	2	3	2	3	1	2	4	3	1	2	7	5			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr17:65174991C>T	uc010wqk.2	-	12	1401	c.1214G>A	c.(1213-1215)cGt>cAt	p.R405H	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.R405H	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGAATCCCAACGTTTAGCTGT	0.348													14	24					0	0	1	0	0	T	65174991	C	T	65174991	3	4	183	1	0	0	0	0	1	0	0	0	7049	536	19	1	4698	1	HELZ	17	65174991	Missense_Mutation	SNP	C	TCGA-HT-7606-01A-11D-2086-08	31095353	65174991	16020219	29	7975											
SMARCA4	6597	broad.mit.edu	37	chr19	11132434	11132434	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgattgtggacgaaggtCaccgcatgaagaaccaccac	14	6	10	11	2	1	3	1	2	0	1	1	5	1	4	3	2	1	1	3	2	3	1			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr19:11132434C>A	uc010dxp.3	+	19	3010	c.2650C>A	c.(2650-2652)Cac>Aac	p.H884N	SMARCA4_uc010dxo.3_Missense_Mutation_p.H884N|SMARCA4_uc002mqf.4_Missense_Mutation_p.H884N|SMARCA4_uc002mqg.1_Missense_Mutation_p.H884N|SMARCA4_uc010dxq.3_Missense_Mutation_p.H884N|SMARCA4_uc010dxr.3_Missense_Mutation_p.H884N|SMARCA4_uc002mqj.4_Missense_Mutation_p.H884N|SMARCA4_uc010dxs.3_Missense_Mutation_p.H884N|SMARCA4_uc010dxt.1_Missense_Mutation_p.H104N|SMARCA4_uc002mqh.4_Missense_Mutation_p.H7N|SMARCA4_uc002mqi.1_Missense_Mutation_p.H87N	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	884	Helicase ATP-binding.				chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.H884P(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGACGAAGGTCACCGCATGAA	0.622			"F, N, Mis"		NSCLC								13	16					6.72482e-11	7.38412e-11	1	1	0	A	11132434	C	A	11132434	3	1	183	1	0	0	0	0	1	0	0	0	14770	826	29	5	2720	5	SMARCA4	19	11132434	Missense_Mutation	SNP	C	TCGA-HT-7606-01A-11D-2086-08		11132434	47996549	30	7976											
EPS15L1	58513	broad.mit.edu	37	chr19	16487940	16487940	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcttactgaccgctgggCggtttaggccgtggaggagc	8	8	16	9	3	0	1	0	1	0	0	0	3	0	3	2	5	3	3	2	5	3	3			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr19:16487940C>T	uc002ndx.3	-	21	2379	c.2373G>A	c.(2371-2373)ccG>ccA	p.P791P	EPS15L1_uc002ndy.3_Intron|EPS15L1_uc010xpe.1_Intron|EPS15L1_uc002ndz.1_Silent_p.P791P|EPS15L1_uc010xpf.1_Silent_p.P694P|EPS15L1_uc002nea.1_Intron|EPS15L1_uc010eah.1_Intron	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.	791	15 X 3 AA repeats of D-P-F.|Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GACCGCTGGGCGGTTTAGGCC	0.612											OREG0025332	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	19					0	0	1	0	0	T	16487940	C	T	16487940	2	4	183	1	0	0	0	0	0	0	0	1	5193	755	27	1		1	EPS15L1	19	16487940	Silent	SNP	C	TCGA-HT-7606-01A-11D-2086-08	5355506	16487940	42641043	31	7977											
SLC25A1	6576	broad.mit.edu	37	chr22	19164192	19164192	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcagagggttcatgggctTgttggggttgtcccctggat	5	13	16	7	0	2	1	2	0	0	1	3	3	3	2	2	5	0	4	2	5	0	4			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr22:19164192T>G	uc021wlb.1	-	5	672	c.667A>C	c.(667-669)Aag>Cag	p.K223Q	SLC25A1_uc002zoy.3_Missense_Mutation_p.K113Q|SLC25A1_uc002zoz.3_Missense_Mutation_p.K216Q	NM_005984	NP_005975	P53007	TXTP_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 (SLC25A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	216					gluconeogenesis|long-chain fatty-acyl-CoA biosynthetic process|mitochondrial citrate transport|triglyceride biosynthetic process	integral to membrane|mitochondrial inner membrane	citrate transmembrane transporter activity|protein binding			cervix(1)|lung(1)	2	Colorectal(54;0.0993)	all_lung(157;9.94e-09)		Lung(27;0.124)		TTCATGGGCTTGTTGGGGTTG	0.592													11	21					0	0	1	0	0	G	19164192	T	G	19164192	3	3	183	1	0	0	0	0	1	0	0	0	14471	1821	63	5	301	5	SLC25A1	22	19164192	Missense_Mutation	SNP	T	TCGA-HT-7606-01A-11D-2086-08		19164192	32140374	32	7978											
SHROOM4	57477	broad.mit.edu	37	chrX	50350672	50350674	+	In_Frame_Del	DEL	TCT	TCT	-																															aatactggggtggcagctccTcttcctcctcctctgcctcc																								rs3747282	byFrequency	TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chrX:50350672_50350674delTCT	uc004dpe.2	-	5	3494_3496	c.3468_3470delAGA	c.(3466-3471)gaagag>gag	p.1156_1157EE>E	SHROOM4_uc004dpd.3_Non-coding_Transcript	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	1156	Glu-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.E1156E(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TGGCAGctcctcttcctcctcct	0.557													3	6	---	---	---	---						-	50350674	TCT	-	50350672	7	5	183	1	0	1	0	1	0	0	0	0	14296	1551	54	0	1027	0	SHROOM4	23	50350672	In_Frame_Del	DEL	TCT	TCGA-HT-7606-01A-11D-2086-08		50350672	104919888	33	7979											
GSPT2	23708	broad.mit.edu	37	chrX	51488448	51488448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaagacacgaccccgcttcGtgaaacaagatcaagtatgc	14	7	9	11	3	1	3	1	1	0	2	2	4	1	3	2	0	2	3	2	0	5	3			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chrX:51488448G>A	uc004dpl.3	+	0	1968	c.1726G>A	c.(1726-1728)Gtg>Atg	p.V576M		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.	576					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					ACCCCGCTTCGTGAAACAAGA	0.418													20	15					0	0	1	0	0	A	51488448	G	A	51488448	3	1	183	1	0	0	0	0	1	0	0	0	6827	1145	40	1	1728	1	GSPT2	23	51488448	Missense_Mutation	SNP	G	TCGA-HT-7606-01A-11D-2086-08	1137776	51488448	103782112	34	7980											
ZCCHC5	203430	broad.mit.edu	37	chrX	77912924	77912924	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaccctccccttggcagaGttgatggatgcactggttgg	7	11	13	10	0	0	3	0	2	0	1	1	4	1	4	3	4	1	4	3	4	0	3			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chrX:77912924G>T	uc022bzi.1	-	0	994	c.994C>A	c.(994-996)Ctc>Atc	p.L332I	ZCCHC5_uc004edc.1_Missense_Mutation_p.L332I	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	332							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						CCTTGGCAGAGTTGATGGATG	0.463													9	18					2.74318e-10	2.95419e-10	1	1	0	T	77912924	G	T	77912924	3	4	183	1	0	0	0	0	1	0	0	0	17588	1029	36	5	437	5	ZCCHC5	23	77912924	Missense_Mutation	SNP	G	TCGA-HT-7606-01A-11D-2086-08	26424476	77912924	77357636	35	7981											
RBM41	55285	broad.mit.edu	37	chrX	106331986	106331986	+	Frame_Shift_Del	DEL	C	C	-																															tctcataagttgaaactcttCaagacgttttttcattatca																										TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chrX:106331986delC	uc004emz.3	-	4	661	c.607delG	c.(607-609)gaafs	p.E203fs	RBM41_uc004emy.2_Frame_Shift_Del_p.E203fs	NM_018301	NP_060771	Q96IZ5	RBM41_HUMAN	Homo sapiens RNA binding motif protein 41 (RBM41), transcript variant 1, mRNA.	203							RNA binding|nucleotide binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						TGAAACTCTTCAAGACGTTTT	0.428													15	27	---	---	---	---						-	106331986	C	-	106331986	7	5	183	1	0	1	0	1	0	0	0	0	13135	835	29	0	655	0	RBM41	23	106331986	Frame_Shift_Del	DEL	C	TCGA-HT-7606-01A-11D-2086-08	28419062	106331986	48938574	36	7982											
ODZ1	10178	broad.mit.edu	37	chrX	123525932	123525932	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	taggtatagctccaaattttCccatcagcccaagttcttga	11	13	6	11	0	2	1	1	1	1	0	4	1	4	1	3	1	2	3	3	1	5	7			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chrX:123525932C>T	uc010nqy.3	-	27	5722	c.5658G>A	c.(5656-5658)ggG>ggA	p.G1886G	ODZ1_uc011muj.2_Silent_p.G1885G|ODZ1_uc004euj.3_Silent_p.G1879G	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1879					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TCCAAATTTTCCCATCAGCCC	0.378													9	7					0	0	1	0	0	T	123525932	C	T	123525932	2	4	183	1	0	0	0	0	0	0	0	1	10834	842	30	3		3	ODZ1	23	123525932	Silent	SNP	C	TCGA-HT-7606-01A-11D-2086-08	17193946	123525932	31744628	37	7983											
PHF13	148479	broad.mit.edu	37	chr1	6681634	6681634	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaaaagtgccgggactcCaagtttgacatccgccgttc	9	9	10	13	3	0	1	0	1	0	0	3	2	2	2	5	1	2	2	5	1	3	2			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr1:6681634C>G	uc001aob.4	+	3	1211	c.840C>G	c.(838-840)tcC>tcG	p.S280S		NM_153812	NP_722519	Q86YI8	PHF13_HUMAN	Homo sapiens PHD finger protein 13 (PHF13), mRNA.	280					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		GCCGGGACTCCAAGTTTGACA	0.577													16	68					0	0	1	0	0	G	6681634	C	G	6681634	2	3	184	1	0	0	0	0	0	0	0	1	11824	581	21	5		5	PHF13	1	6681634	Silent	SNP	C	TCGA-HT-7607-01A-11D-2086-08		6681634	242568987	1	7984											
CLDN19	149461	broad.mit.edu	37	chr1	43204166	43204166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttgctgtctcccacccgcGtacacttcatgccaactacg	7	10	8	16	3	2	0	1	0	1	0	3	0	2	0	3	1	5	3	3	1	3	4			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr1:43204166G>A	uc001cht.1	-	1	505	c.314C>T	c.(313-315)aCg>aTg	p.T105M	CLDN19_uc001chu.2_Missense_Mutation_p.T105M|CLDN19_uc010ojv.1_Missense_Mutation_p.T105M	NM_148960	NP_683763	Q8N6F1	CLD19_HUMAN	Homo sapiens claudin 19 (CLDN19), transcript variant 1, mRNA.	105					calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCCCACCCGCGTACACTTCAT	0.637													3	46					0	0	1	0	0	A	43204166	G	A	43204166	3	1	184	1	0	0	0	0	1	0	0	0	3480	1145	40	1	492	1	CLDN19	1	43204166	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08	36522532	43204166	206046455	2	7985											
C1orf106	55765	broad.mit.edu	37	chr1	200880683	200880683	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccagattcctgctttccCgcgaccaagcccccgctgcc	5	8	9	19	3	0	1	0	0	0	1	2	2	2	1	7	0	4	2	7	0	1	2			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr1:200880683C>T	uc001gvo.3	+	8	1359	c.1317C>T	c.(1315-1317)ccC>ccT	p.P439P	C1orf106_uc010ppm.2_Silent_p.P354P	NM_018265	NP_001136041	Q3KP66	CA106_HUMAN	Homo sapiens chromosome 1 open reading frame 106 (C1orf106), transcript variant 1, mRNA.	439										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CCTGCTTTCCCGCGACCAAGC	0.682													32	192					0	0	1	0	0	T	200880683	C	T	200880683	2	4	184	1	0	0	0	0	0	0	0	1	1980	639	23	2		2	C1orf106	1	200880683	Silent	SNP	C	TCGA-HT-7607-01A-11D-2086-08	157676517	200880683	48369938	3	7986											
UGGT1	56886	broad.mit.edu	37	chr2	128917277	128917277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgcaggagctgacattGcggagttctctgttggggta	6	12	16	7	1	1	1	0	1	1	0	2	3	1	3	0	5	3	6	0	5	1	4	rs141470228	byFrequency	TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr2:128917277G>A	uc002tps.3	+	22	2723	c.2545G>A	c.(2545-2547)Gcg>Acg	p.A849T	UGGT1_uc010fme.1_Missense_Mutation_p.A724T|UGGT1_uc002tpr.3_Missense_Mutation_p.A825T	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	849					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGCTGACATTGCGGAGTTCTC	0.567													16	69					0	0	1	0	0	A	128917277	G	A	128917277	3	1	184	1	0	0	0	0	1	0	0	0	16938	1319	46	3	2635	3	UGGT1	2	128917277	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08		128917277	114282096	4	7987											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								16	92					0	0	1	0	0	T	209113112	C	T	209113112	3	4	184	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7607-01A-11D-2086-08	80195835	209113112	34086261	5	7988											
VIL1	7429	broad.mit.edu	37	chr2	219296838	219296838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taggccacttctatgggggcGactgctacctgctgctctac	6	11	11	13	1	2	0	0	0	2	0	2	1	2	0	2	3	5	3	2	3	4	5			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr2:219296838G>A	uc002vib.3	+	10	1295	c.1273G>A	c.(1273-1275)Gac>Aac	p.D425N	VIL1_uc010zke.2_Missense_Mutation_p.D114N|VIL1_uc002via.3_Missense_Mutation_p.D425N	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	425	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	p.D425Y(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTATGGGGGCGACTGCTACCT	0.592													6	46					0	0	1	0	0	A	219296838	G	A	219296838	3	1	184	1	0	0	0	0	1	0	0	0	17161	1058	37	2	1315	2	VIL1	2	219296838	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08	10183726	219296838	23902535	6	7989											
SIAH2	6478	broad.mit.edu	37	chr3	150480449	150480451	+	In_Frame_Del	DEL	CCG	CCG	-																															gcggggacaccgggccggccCcgccgccgccgccggggccc																										TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr3:150480449_150480451delCCG	uc003eyi.3	-	0	813_815	c.186_188delCGG	c.(184-189)ggcggg>ggg	p.62_63GG>G		NM_005067	NP_005058	O43255	SIAH2_HUMAN	Homo sapiens seven in absentia homolog 2 (Drosophila) (SIAH2), mRNA.	62					apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			cgggccggccccgccgccgccgc	0.764													3	6	---	---	---	---						-	150480451	CCG	-	150480449	7	5	184	1	0	1	0	1	0	0	0	0	14300	623	22	0	794	0	SIAH2	3	150480449	In_Frame_Del	DEL	CCG	TCGA-HT-7607-01A-11D-2086-08		150480449	47541981	7	7990											
PIK3CA	5290	broad.mit.edu	37	chr3	178928079	178928079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccagtacctcatggattaGaagatttgctgaaccctatt	11	12	9	9	0	1	3	1	1	0	2	1	4	1	4	3	2	3	2	3	2	5	5			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr3:178928079G>A	uc003fjk.3	+	7	1514	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	453	C2 PI3K-type.		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E453K(20)|p.E453Q(8)|p.P449_L455del(2)|p.G451_L456>V(2)|p.H450fs*9(1)|p.E453A(1)|p.E453del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCATGGATTAGAAGATTTGCT	0.348		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			20	96					0	0	1	0	0	A	178928079	G	A	178928079	3	1	184	1	0	0	0	0	1	0	0	0	11913	943	33	3	1383	3	PIK3CA	3	178928079	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08	28447630	178928079	19094351	8	7991											
AHRR	57491	broad.mit.edu	37	chr5	413500	413500	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcgtgagtgcagaagggacGatattttatgcatcagcaac	12	10	12	7	2	1	2	1	1	0	1	2	4	1	3	0	1	4	3	0	1	4	3			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr5:413500G>A	uc003jav.3	+	4	448	c.405G>A	c.(403-405)acG>acA	p.T135T	AHRR_uc003jaw.3_Silent_p.T135T|AHRR_uc010isy.3_5'UTR|AHRR_uc010isz.3_Silent_p.T131T	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA.	135	PAS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CAGAAGGGACGATATTTTATG	0.403													21	82					0	0	1	0	0	A	413500	G	A	413500	2	1	184	1	0	0	0	0	0	0	0	1	417	1045	37	2		2	AHRR	5	413500	Silent	SNP	G	TCGA-HT-7607-01A-11D-2086-08		413500	180501760	9	7992											
KIAA1191	57179	broad.mit.edu	37	chr5	175779732	175779732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcaggggagggtagaCtggcctctccttcctccacc	6	9	12	14	0	2	1	1	0	1	1	5	2	4	2	5	5	0	2	5	5	1	2			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr5:175779732C>T	uc003mdw.3	-	4	599	c.227G>A	c.(226-228)aGt>aAt	p.S76N	KIAA1191_uc003mdx.3_Missense_Mutation_p.S57N|KIAA1191_uc003mdy.3_Missense_Mutation_p.S76N|KIAA1191_uc003mea.3_Intron|KIAA1191_uc003mdz.3_Intron	NM_020444	NP_001073152	Q96A73	K1191_HUMAN	Homo sapiens KIAA1191 (KIAA1191), transcript variant 1, mRNA.	76							protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		GGAGGGTAGACTGGCCTCTCC	0.527													13	43					0	0	1	0	0	T	175779732	C	T	175779732	3	4	184	1	0	0	0	0	1	0	0	0	8212	565	20	3	710	3	KIAA1191	5	175779732	Missense_Mutation	SNP	C	TCGA-HT-7607-01A-11D-2086-08	175366232	175779732	5135528	10	7993											
GMPR	2766	broad.mit.edu	37	chr6	16295259	16295259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctctgagggtaagactgtgGaagttccttacaaaggagat	12	10	12	7	0	1	3	0	1	1	2	2	5	2	4	2	3	1	2	2	3	4	3			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr6:16295259G>A	uc003nbs.3	+	8	994	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K		NM_006877	NP_006868	P36959	GMPR1_HUMAN	Homo sapiens guanosine monophosphate reductase (GMPR), mRNA.	294					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				TAAGACTGTGGAAGTTCCTTA	0.498													11	55					0	0	1	0	0	A	16295259	G	A	16295259	3	1	184	1	0	0	0	0	1	0	0	0	6496	1175	41	3	914	3	GMPR	6	16295259	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08		16295259	154819808	11	7994											
ZNF292	23036	broad.mit.edu	37	chr6	87965029	87965030	+	Frame_Shift_Del	DEL	AG	AG	-																															cagaatagtacgacatgctcAgaaacattacaaagatggaa																										TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr6:87965029_87965030delAG	uc003plm.4	+	7	1723_1724	c.1682_1683delAG	c.(1681-1683)cagfs	p.Q561fs		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CGACATGCTCAGAAACATTACA	0.371													8	37	---	---	---	---						-	87965030	AG	-	87965029	7	5	184	1	0	1	0	1	0	0	0	0	17823	188	7	0	1712	0	ZNF292	6	87965029	Frame_Shift_Del	DEL	AG	TCGA-HT-7607-01A-11D-2086-08	71669770	87965029	83150038	12	7995											
WDR27	253769	broad.mit.edu	37	chr6	170052047	170052047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggtgctgacgcataaccaGatgacctaactttactatgg	11	11	10	9	1	0	3	0	2	0	1	0	3	0	3	2	2	4	2	2	2	4	5			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr6:170052047G>A	uc003qwx.3	-	13	1980	c.1460C>T	c.(1459-1461)tCt>tTt	p.S487F	WDR27_uc003qwv.2_Non-coding_Transcript|WDR27_uc021zio.1_Missense_Mutation_p.S487F|WDR27_uc003qwy.3_Missense_Mutation_p.S360F	NM_182552	NP_872358	A2RRH5	WDR27_HUMAN	Homo sapiens WD repeat domain 27 (WDR27), transcript variant 1, mRNA.	457										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CGCATAACCAGATGACCTAAC	0.428													8	28					0	0	1	0	0	A	170052047	G	A	170052047	3	1	184	1	0	0	0	0	1	0	0	0	17281	942	33	3	1161	3	WDR27	6	170052047	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08	82087018	170052047	1063020	13	7996											
TRRAP	8295	broad.mit.edu	37	chr7	98508712	98508712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtattaggtccagatagcaGgaaatggacagacatacatc	15	9	10	7	0	0	2	0	0	0	2	2	4	1	4	1	3	2	2	1	3	5	4			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr7:98508712G>A	uc003upp.3	+	16	2034	c.1825G>A	c.(1825-1827)Gga>Aga	p.G609R	TRRAP_uc011kis.2_Missense_Mutation_p.G609R|TRRAP_uc003upr.3_Missense_Mutation_p.G301R	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	609					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCAGATAGCAGGAAATGGACA	0.453													10	66					0	0	1	0	0	A	98508712	G	A	98508712	3	1	184	1	0	0	0	0	1	0	0	0	16598	1001	35	3	1887	3	TRRAP	7	98508712	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08		98508712	60629951	14	7997											
POT1	25913	broad.mit.edu	37	chr7	124499166	124499166	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtcctggtgccatcccataCctgccataagagagtagagt	10	10	10	11	0	0	2	0	0	0	2	2	3	2	2	5	1	3	1	5	1	3	3			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr7:124499166C>A	uc003vlm.3	-	9	1148	c.547_splice	c.e9-1	p.V183_splice	POT1_uc011koe.2_Splice_Site|POT1_uc003vlk.3_Splice_Site|POT1_uc003vll.3_Splice_Site|POT1_uc003vln.3_Splice_Site|POT1_uc003vlo.3_Splice_Site_p.V52_splice	NM_015450	NP_001036059	Q9NUX5	POTE1_HUMAN	Homo sapiens protection of telomeres 1 homolog (S. pombe) (POT1), transcript variant 1, mRNA.	183					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.V183L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						CCATCCCATACCTGCCATAAG	0.353													8	40					1.12685e-05	1.15246e-05	1	1	0	A	124499166	C	A	124499166	5	1	184	1	0	0	0	0	0	0	1	0	12260	521	18	5	1401	5	POT1	7	124499166	Splice_Site	SNP	C	TCGA-HT-7607-01A-11D-2086-08	25990454	124499166	34639497	15	7998											
ABP1	26	broad.mit.edu	37	chr7	150555011	150555011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgcatgccactggctacGtccacgccaccttctacacc	9	8	7	17	2	1	1	0	0	1	1	2	1	2	1	5	1	4	2	5	1	2	3			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr7:150555011G>A	uc003why.1	+	2	5671	c.1453G>A	c.(1453-1455)Gtc>Atc	p.V485I	ABP1_uc003whz.1_Missense_Mutation_p.V485I|ABP1_uc003wia.1_Missense_Mutation_p.V485I	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	485					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CACTGGCTACGTCCACGCCAC	0.557													21	106					0	0	1	0	0	A	150555011	G	A	150555011	3	1	184	1	0	0	0	0	1	0	0	0	98	1145	40	1	1455	1	ABP1	7	150555011	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08	26055845	150555011	8583652	16	7999											
COL27A1	85301	broad.mit.edu	37	chr9	117050747	117050747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtccacagggggagcagggcGaggacggcaaggctgagggg	9	2	22	8	2	0	1	0	1	0	0	1	4	1	3	1	8	1	3	1	8	1	0			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr9:117050747G>A	uc011lxl.2	+	41	4000	c.4000G>A	c.(4000-4002)Gag>Aag	p.E1334K	COL27A1_uc004bii.3_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1334	Collagen-like 12.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGAGCAGGGCGAGGACGGCAA	0.637													4	17					0	0	1	0	0	A	117050747	G	A	117050747	3	1	184	1	0	0	0	0	1	0	0	0	3685	1059	37	2	4166	2	COL27A1	9	117050747	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08		117050747	24162684	17	8000											
PDCD4	27250	broad.mit.edu	37	chr10	112641024	112641024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagtgactctctcttttccgGtgatgaagaaaatgctggga	11	12	11	7	1	2	4	0	3	2	1	4	5	3	5	1	2	1	1	1	2	4	2			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr10:112641024G>A	uc001kzh.3	+	2	363	c.77G>A	c.(76-78)gGt>gAt	p.G26D	PDCD4_uc001kzg.3_Missense_Mutation_p.G15D|PDCD4_uc010qre.2_Intron	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	Homo sapiens programmed cell death 4 (neoplastic transformation inhibitor) (PDCD4), transcript variant 1, mRNA.	26					apoptosis|cell aging|negative regulation of JUN kinase activity|negative regulation of cell cycle|negative regulation of transcription, DNA-dependent	cytosol|nucleus	RNA binding|protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CTCTTTTCCGGTGATGAAGAA	0.318													19	101					0	0	1	0	0	A	112641024	G	A	112641024	3	1	184	1	0	0	0	0	1	0	0	0	11621	1261	44	3	97	3	PDCD4	10	112641024	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08		112641024	22893723	18	8001											
BAG3	9531	broad.mit.edu	37	chr10	121432114	121432114	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccagccaggagcagcacGccactccactccccctcgcc	8	4	7	22	2	1	0	1	0	0	0	4	1	3	1	7	1	3	2	7	1	0	0	rs147259596	byFrequency	TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr10:121432114G>A	uc001lem.3	+	2	1161	c.855G>A	c.(853-855)acG>acA	p.T285T	BAG3_uc001lel.3_Silent_p.T285T	NM_004281	NP_004272	O95817	BAG3_HUMAN	Homo sapiens BCL2-associated athanogene 3 (BAG3), mRNA.	285					anti-apoptosis|apoptosis|protein folding	cytosol		p.T285M(1)		endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GGAGCAGCACGCCACTCCACT	0.657													7	63					0	0	1	0	0	A	121432114	G	A	121432114	2	1	184	1	0	0	0	0	0	0	0	1	1288	1074	38	1		1	BAG3	10	121432114	Silent	SNP	G	TCGA-HT-7607-01A-11D-2086-08	8791090	121432114	14102633	19	8002											
RAD51AP1	10635	broad.mit.edu	37	chr12	4668029	4668029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtttcctttcagcggcatCtggaggtagcagaagtagca	10	11	12	8	1	2	1	1	0	1	1	3	2	3	2	1	3	3	6	1	3	3	4	rs140432356	byFrequency	TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr12:4668029C>T	uc001qmw.3	+	9	1085	c.929C>T	c.(928-930)tCt>tTt	p.S310F	RAD51AP1_uc001qmu.3_Missense_Mutation_p.S293F|RAD51AP1_uc010sep.2_Missense_Mutation_p.S191F|RAD51AP1_uc010seq.2_Missense_Mutation_p.S191F|RAD51AP1_uc009zeg.3_Non-coding_Transcript	NM_001130862	NP_001124334	Q96B01	R51A1_HUMAN	Homo sapiens RAD51 associated protein 1 (RAD51AP1), transcript variant 1, mRNA.	310					double-strand break repair via homologous recombination		RNA binding|double-stranded DNA binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			TCAGCGGCATCTGGAGGTAGC	0.418													11	60					0	0	1	0	0	T	4668029	C	T	4668029	3	4	184	1	0	0	0	0	1	0	0	0	12986	913	32	3	967	3	RAD51AP1	12	4668029	Missense_Mutation	SNP	C	TCGA-HT-7607-01A-11D-2086-08		4668029	129183866	20	8003											
PA2G4	5036	broad.mit.edu	37	chr12	56504773	56504773	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgaagatgagaagaaggctCggatgggtgtggtggagtgc	10	9	19	3	1	0	4	0	2	0	3	1	7	0	6	0	5	1	1	0	5	3	1			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr12:56504773C>T	uc001sjm.3	+	9	1287	c.868C>T	c.(868-870)Cgg>Tgg	p.R290W		NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	Homo sapiens proliferation-associated 2G4, 38kDa (PA2G4), mRNA.	290					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|rRNA processing|regulation of translation	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			GAAGAAGGCTCGGATGGGTGT	0.418													13	46					0	0	1	0	0	T	56504773	C	T	56504773	3	4	184	1	0	0	0	0	1	0	0	0	11361	875	31	2	906	2	PA2G4	12	56504773	Missense_Mutation	SNP	C	TCGA-HT-7607-01A-11D-2086-08	51836744	56504773	77347122	21	8004											
ING1	3621	broad.mit.edu	37	chr13	111372025	111372025	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctccaaggccaaggcggagCgagaggcgtcccctgccgac	8	3	15	15	4	0	1	0	0	0	1	2	4	2	2	5	4	2	1	5	4	2	0			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr13:111372025C>T	uc001vri.3	+	1	1447	c.1015C>T	c.(1015-1017)Cga>Tga	p.R339*	ING1_uc001vrf.3_Nonsense_Mutation_p.R152*|ING1_uc001vrg.3_Nonsense_Mutation_p.R127*|ING1_uc001vrh.3_Nonsense_Mutation_p.R196*|ING1_uc021rmo.1_Nonsense_Mutation_p.R127*	NM_005537	NP_005528	Q9UK53	ING1_HUMAN	Homo sapiens inhibitor of growth family, member 1 (ING1), transcript variant 4, mRNA.	339					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding	p.R196*(3)|p.R339*(1)|p.R152*(1)		endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CAAGGCGGAGCGAGAGGCGTC	0.627													13	39					0	0	1	0	0	T	111372025	C	T	111372025	4	4	184	1	0	0	0	0	0	1	0	0	7735	760	27	1	1169	1	ING1	13	111372025	Nonsense_Mutation	SNP	C	TCGA-HT-7607-01A-11D-2086-08		111372025	3797853	22	8005											
MAX	4149	broad.mit.edu	37	chr14	65544747	65544747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtctaggatttgggccCgggatgcctgtggcaatatg	6	13	14	8	1	1	0	0	0	1	0	1	2	1	2	2	4	1	1	2	4	3	4			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr14:65544747C>T	uc001xif.1	-	3	349	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	MAX_uc001xic.1_Intron|MAX_uc001xie.1_Missense_Mutation_p.R60Q|MAX_uc001xig.1_Missense_Mutation_p.R51Q|MAX_uc001xih.1_Non-coding_Transcript|MAX_uc001xii.1_Missense_Mutation_p.R51Q|MAX_uc001xij.1_Missense_Mutation_p.R60Q	NM_002382	NP_002373	P61244	MAX_HUMAN	Homo sapiens MYC associated factor X (MAX), transcript variant 1, mRNA.	60	Helix-loop-helix motif.				transcription from RNA polymerase II promoter	MLL1 complex|cytoplasm	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R60Q(8)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GATTTGGGCCCGGGATGCCTG	0.498													19	60					0	0	1	0	0	T	65544747	C	T	65544747	3	4	184	1	0	0	0	0	1	0	0	0	9339	652	23	2	527	2	MAX	14	65544747	Missense_Mutation	SNP	C	TCGA-HT-7607-01A-11D-2086-08		65544747	41804793	23	8006											
HCN4	10021	broad.mit.edu	37	chr15	73616140	73616140	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgggcgtgggggttggggtgGcagaggcagcagcctggacg	5	5	23	8	3	0	1	0	0	0	1	0	2	0	2	1	8	2	4	1	8	0	1			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr15:73616140G>A	uc002avp.3	-	7	3288	c.2294C>T	c.(2293-2295)gCc>gTc	p.A765V		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	765					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GGTTGGGGTGGCAGAGGCAGC	0.647													11	58					0	0	1	0	0	A	73616140	G	A	73616140	3	1	184	1	0	0	0	0	1	0	0	0	6999	1203	42	3	1321	3	HCN4	15	73616140	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08		73616140	28915252	24	8007											
ACAN	176	broad.mit.edu	37	chr15	89400165	89400165	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggagtagaggagatcagcgGgcttccttctggagaagttc	9	10	15	7	1	2	3	1	0	1	3	4	6	3	4	1	4	1	3	1	4	2	4			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr15:89400165G>T	uc010upo.1	+	11	4723	c.4349G>T	c.(4348-4350)gGg>gTg	p.G1450V	ACAN_uc010upp.1_Missense_Mutation_p.G1450V|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1450					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GAGATCAGCGGGCTTCCTTCT	0.512													29	115					5.90632e-09	6.18104e-09	1	1	0	T	89400165	G	T	89400165	3	4	184	1	0	0	0	0	1	0	0	0	117	1232	43	5	4391	5	ACAN	15	89400165	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08	15784025	89400165	13131227	25	8008											
ZP2	7783	broad.mit.edu	37	chr16	21214448	21214448	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaataaaaggtctttacctAtagaaacgggtgactcacag	15	11	8	7	1	2	2	1	1	1	1	2	2	2	2	1	2	2	0	1	2	7	6	rs142277591		TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr16:21214448A>G	uc010bwn.1	-	9	1296	c.1214T>C	c.(1213-1215)aTa>aCa	p.I405T	ZP2_uc002dii.2_Missense_Mutation_p.I366T	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	366	ZP.				binding of sperm to zona pellucida|intracellular protein transport	Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GTCTTTACCTATAGAAACGGG	0.418													12	47					0	0	1	0	0	G	21214448	A	G	21214448	3	3	184	1	0	0	0	0	1	0	0	0	18213	449	16	3	1180	3	ZP2	16	21214448	Missense_Mutation	SNP	A	TCGA-HT-7607-01A-11D-2086-08		21214448	69140305	26	8009											
PLEKHM1	9842	broad.mit.edu	37	chr17	43545910	43545910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtttcttggctcagtcCgttggttggcacagagttta	5	16	11	9	1	3	1	1	0	2	1	4	1	4	1	1	3	0	6	1	3	1	6			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr17:43545910C>T	uc002ija.3	-	4	1143	c.973G>A	c.(973-975)Gga>Aga	p.G325R	PLEKHM1_uc010wjm.2_Missense_Mutation_p.G297R|PLEKHM1_uc002ijb.3_Intron|PLEKHM1_uc010wjn.1_Missense_Mutation_p.G274R	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 (PLEKHM1), transcript variant 1, mRNA.	325					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					TGGCTCAGTCCGTTGGTTGGC	0.517													9	65					0	0	1	0	0	T	43545910	C	T	43545910	3	4	184	1	0	0	0	0	1	0	0	0	12080	661	23	2	2229	2	PLEKHM1	17	43545910	Missense_Mutation	SNP	C	TCGA-HT-7607-01A-11D-2086-08		43545910	37649300	27	8010											
ZNF573	126231	broad.mit.edu	37	chr19	38229202	38229203	+	Splice_Site	DEL	TC	TC	-																															cctgttttttttttttttttTcttaatttaccattgaatag																								rs74268405		TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr19:38229202_38229203delTC	uc002ohe.3	-	5	2257	c.2188_splice	c.e5+1		ZNF573_uc010efs.2_Splice_Site|ZNF573_uc002ohd.3_Splice_Site|ZNF573_uc002ohf.3_Splice_Site|ZNF573_uc002ohg.3_Splice_Site|ZNF573_uc021utv.1_Splice_Site	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TTTTTTTTTTTCTTAATTTACC	0.332													2	4	---	---	---	---						-	38229203	TC	-	38229202	8	5	184	1	0	1	0	1	0	0	1	0	18002	1798	62	0		0	ZNF573	19	38229202	Splice_Site	DEL	TC	TCGA-HT-7607-01A-11D-2086-08		38229202	20899781	28	8011											
NLGN4X	57502	broad.mit.edu	37	chrX	5811260	5811260	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttgaggaagaggagcgaCgccccgacggcaatggtgac	11	5	16	9	4	0	3	0	2	0	1	0	7	0	5	2	4	1	2	2	4	2	1			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chrX:5811260C>T	uc010ndi.3	-	6	2624	c.2160G>A	c.(2158-2160)gcG>gcA	p.A720A	NLGN4X_uc004crp.3_Silent_p.A703A|NLGN4X_uc010ndh.3_Silent_p.A683A|NLGN4X_uc004crq.3_Silent_p.A683A|NLGN4X_uc004crr.3_Silent_p.A683A|NLGN4X_uc010ndj.3_Silent_p.A683A	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	683					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AGAGGAGCGACGCCCCGACGG	0.522													23	92					0	0	1	0	0	T	5811260	C	T	5811260	2	4	184	1	0	0	0	0	0	0	0	1	10464	523	19	1		1	NLGN4X	23	5811260	Silent	SNP	C	TCGA-HT-7607-01A-11D-2086-08		5811260	149459300	29	8012											
FRMPD4	9758	broad.mit.edu	37	chrX	12720061	12720061	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatagccctgcggctggcCgcattacaaatgtacattgc	10	9	10	12	2	0	0	0	0	0	0	0	1	0	0	2	2	5	3	2	2	4	4			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chrX:12720061C>T	uc004cuz.2	+	9	1508	c.1002C>T	c.(1000-1002)gcC>gcT	p.A334A	FRMPD4_uc011mij.2_Silent_p.A326A	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	334	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGCGGCTGGCCGCATTACAAA	0.507											OREG0019670	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	126					0	0	1	0	0	T	12720061	C	T	12720061	2	4	184	1	0	0	0	0	0	0	0	1	6059	639	23	2		2	FRMPD4	23	12720061	Silent	SNP	C	TCGA-HT-7607-01A-11D-2086-08	6908801	12720061	142550499	30	8013											
OFD1	8481	broad.mit.edu	37	chrX	13786333	13786333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaggagcaagaccaggagtCggcagataaggtgccagtgc	12	4	16	9	1	0	2	0	0	0	2	1	4	0	4	2	4	3	3	2	4	2	1			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chrX:13786333C>T	uc004cvp.4	+	20	3277	c.2918C>T	c.(2917-2919)tCg>tTg	p.S973L	OFD1_uc004cvr.4_Missense_Mutation_p.S503L|OFD1_uc011mil.2_Missense_Mutation_p.S540L|OFD1_uc004cvq.4_Missense_Mutation_p.S796L|OFD1_uc010nen.3_Missense_Mutation_p.S971L|OFD1_uc004cvs.4_Non-coding_Transcript|OFD1_uc004cvu.4_Missense_Mutation_p.S932L|OFD1_uc004cvv.4_Missense_Mutation_p.S931L	NM_003611	NP_003602	O75665	OFD1_HUMAN	Homo sapiens oral-facial-digital syndrome 1 (OFD1), mRNA.	973	Mediates the interaction with SDCCAG8.				G2/M transition of mitotic cell cycle|cilium movement involved in determination of left/right asymmetry	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GACCAGGAGTCGGCAGATAAG	0.478													15	89					0	0	1	0	0	T	13786333	C	T	13786333	3	4	184	1	0	0	0	0	1	0	0	0	10838	893	31	2	3000	2	OFD1	23	13786333	Missense_Mutation	SNP	C	TCGA-HT-7607-01A-11D-2086-08	1066272	13786333	141484227	31	8014											
PHF6	84295	broad.mit.edu	37	chrX	133527974	133527974	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acacaagaaaactgcacataActccgaaggtacatcattta	18	8	5	10	1	1	1	1	0	0	1	2	2	2	1	1	1	4	2	1	1	7	4			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chrX:133527974A>G	uc004exj.3	+	4	612	c.410A>G	c.(409-411)aAc>aGc	p.N137S	PHF6_uc004exk.3_Missense_Mutation_p.N137S|PHF6_uc011mvk.2_Missense_Mutation_p.N103S|PHF6_uc004exh.3_Missense_Mutation_p.N137S|PHF6_uc010nrr.3_Missense_Mutation_p.N137S|PHF6_uc004exi.3_Missense_Mutation_p.N137S	NM_001015877	NP_115834	Q8IWS0	PHF6_HUMAN	Homo sapiens PHD finger protein 6 (PHF6), transcript variant 1, mRNA.	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding	p.H136fs(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					ACTGCACATAACTCCGAAGGT	0.294			"F, N, Splice, Mis"		ETP ALL								4	70					0	0	1	0	0	G	133527974	A	G	133527974	3	3	184	1	0	0	0	0	1	0	0	0	11838	43	2	3	424	3	PHF6	23	133527974	Missense_Mutation	SNP	A	TCGA-HT-7607-01A-11D-2086-08	119741641	133527974	21742586	32	8015											
GABRA3	2556	broad.mit.edu	37	chrX	151532994	151532994	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaatattaatcaggaaaaGaatcccaaggctggtcatgt	16	9	10	6	0	2	2	2	0	0	2	3	4	3	3	1	3	0	1	1	3	7	2			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chrX:151532994G>C	uc010ntk.1	-	1	289	c.49C>G	c.(49-51)Ctt>Gtt	p.L17V		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	17					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding	p.L17I(2)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATCAGGAAAAGAATCCCAAGG	0.453													30	127					0	0	1	0	0	C	151532994	G	C	151532994	3	2	184	1	0	0	0	0	1	0	0	0	6162	942	33	5	1465	5	GABRA3	23	151532994	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08	18005020	151532994	3737566	33	8016											
HCFC1	3054	broad.mit.edu	37	chrX	153228837	153228837	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaatgtcccaggctaccActccagagcctggccgtaat	9	8	11	13	1	0	1	0	0	0	1	2	2	2	2	5	3	2	2	5	3	3	2			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chrX:153228837A>C	uc004fjp.3	-	3	1079	c.551T>G	c.(550-552)gTg>gGg	p.V184G		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	184					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex|MLL5-L complex|Set1C/COMPASS complex|mitochondrion	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGGCTACCACTCCAGAGCC	0.522													13	61					0	0	1	0	0	C	153228837	A	C	153228837	3	2	184	1	0	0	0	0	1	0	0	0	6991	159	6	5	5648	5	HCFC1	23	153228837	Missense_Mutation	SNP	A	TCGA-HT-7607-01A-11D-2086-08	1695843	153228837	2041723	34	8017											
FUBP1	8880	broad.mit.edu	37	chr1	78422268	78422269	+	Frame_Shift_Ins	INS	-	-	T																															gtagttaccttgtccattagINStttgagttgtagttggtgca																										TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr1:78422268_78422269insT	uc001dii.3	-	16	1782_1783	c.1693_1694insA	c.(1693-1695)actfs	p.T565fs	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Frame_Shift_Ins_p.T586fs	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	565					transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TTGTCCATTAGTTTGAGTTGTA	0.406			"F, N"		oligodendroglioma								54	41	---	---	---	---						T	78422269	-	T	78422268	7	5	185	1	0	1	1	0	0	0	0	0	6092	1029	36	0	256	0	FUBP1	1	78422268	Frame_Shift_Ins	INS	-	TCGA-HT-7608-01A-11D-2086-08		78422268	170828353	1	8018											
LMNA	4000	broad.mit.edu	37	chr1	156104684	156104684	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgagagccggctggcggAtgcgctgcaggaactgcggg	6	7	19	9	4	0	1	0	1	0	1	0	4	0	3	1	5	5	4	1	5	1	1			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr1:156104684A>G	uc001fni.2	+	3	977	c.728A>G	c.(727-729)gAt>gGt	p.D243G	LMNA_uc001fnf.1_Missense_Mutation_p.D243G|LMNA_uc001fng.2_Missense_Mutation_p.D243G|LMNA_uc001fnh.2_Missense_Mutation_p.D243G|LMNA_uc009wro.1_Missense_Mutation_p.D243G|LMNA_uc010pgz.1_Missense_Mutation_p.D131G|LMNA_uc001fnj.2_Missense_Mutation_p.D162G|LMNA_uc001fnk.2_Missense_Mutation_p.D144G|LMNA_uc009wrp.3_5'Flank|LMNA_uc010pha.1_5'Flank	NM_170707	NP_733821	P02545	LMNA_HUMAN	Homo sapiens lamin A/C (LMNA), transcript variant 1, mRNA.	243	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					CGGCTGGCGGATGCGCTGCAG	0.582									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				19	77					0	0	1	0	0	G	156104684	A	G	156104684	3	3	185	1	0	0	0	0	1	0	0	0	8848	333	12	3	742	3	LMNA	1	156104684	Missense_Mutation	SNP	A	TCGA-HT-7608-01A-11D-2086-08	77682416	156104684	93145937	2	8019											
C1orf65	164127	broad.mit.edu	37	chr1	223567391	223567391	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcctcagttccctcggagCggtcttctgtgccctcgcaa	4	12	9	16	3	3	0	1	0	2	0	7	1	5	1	3	2	2	2	3	2	1	3			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr1:223567391C>T	uc001hoa.2	+	0	677	c.574C>T	c.(574-576)Cgg>Tgg	p.R192W		NM_152610	NP_689823	Q8N715	CA065_HUMAN	Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.	192										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TCCCTCGGAGCGGTCTTCTGT	0.597													53	71					0	0	1	0	0	T	223567391	C	T	223567391	3	4	185	1	0	0	0	0	1	0	0	0	2055	759	27	1	576	1	C1orf65	1	223567391	Missense_Mutation	SNP	C	TCGA-HT-7608-01A-11D-2086-08	67462707	223567391	25683230	3	8020											
BIRC6	57448	broad.mit.edu	37	chr2	32706407	32706407	+	Frame_Shift_Del	DEL	T	T	-																															ggtgcacctcctctgtcctcTttggaaaaagataaagaaat																										TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr2:32706407delT	uc010ezu.3	+	37	7562	c.7428delT	c.(7426-7428)tctfs	p.S2476fs		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	2476					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTCTGTCCTCTTTGGAAAAAG	0.333													10	105	---	---	---	---						-	32706407	T	-	32706407	7	5	185	1	0	1	0	1	0	0	0	0	1438	1596	56	0	7578	0	BIRC6	2	32706407	Frame_Shift_Del	DEL	T	TCGA-HT-7608-01A-11D-2086-08		32706407	210492966	4	8021											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								30	60					0	0	1	0	0	T	209113112	C	T	209113112	3	4	185	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7608-01A-11D-2086-08	176406705	209113112	34086261	5	8022											
TIGIT	201633	broad.mit.edu	37	chr3	114026861	114026861	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtccaggcagaagctgcAcctgctgggctctgtggaga	7	9	15	10	0	1	2	0	0	1	2	2	3	2	2	2	3	3	5	2	3	1	0			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr3:114026861A>G	uc003ebg.2	+	3	1373	c.618A>G	c.(616-618)gcA>gcG	p.A206A		NM_173799	NP_776160	Q495A1	TIGIT_HUMAN	Homo sapiens T cell immunoreceptor with Ig and ITIM domains (TIGIT), mRNA.	206					negative regulation of T cell activation|negative regulation of interleukin-12 production|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						CAGAAGCTGCACCTGCTGGGC	0.572													42	83					0	0	1	0	0	G	114026861	A	G	114026861	2	3	185	1	0	0	0	0	0	0	0	1	15899	146	6	3		3	TIGIT	3	114026861	Silent	SNP	A	TCGA-HT-7608-01A-11D-2086-08		114026861	83995569	6	8023											
ZBTB20	26137	broad.mit.edu	37	chr3	114058211	114058211	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgtgtcaccatgtgctTgataaggtaatcctttaagg	9	15	11	6	0	1	1	1	1	0	0	2	1	2	1	2	2	1	2	2	2	3	5			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr3:114058211T>G	uc003ebi.3	-	4	2047	c.1867A>C	c.(1867-1869)Aag>Cag	p.K623Q	ZBTB20_uc003ebj.3_Missense_Mutation_p.K550Q|ZBTB20_uc010hqp.3_Missense_Mutation_p.K550Q|ZBTB20_uc003ebk.3_Missense_Mutation_p.K550Q|ZBTB20_uc003ebl.3_Missense_Mutation_p.K550Q|ZBTB20_uc003ebm.3_Missense_Mutation_p.K550Q|ZBTB20_uc003ebn.3_Missense_Mutation_p.K550Q	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	623					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P623T(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		ACCATGTGCTTGATAAGGTAA	0.527													4	96					0	0	1	0	0	G	114058211	T	G	114058211	3	3	185	1	0	0	0	0	1	0	0	0	17526	1821	63	5	362	5	ZBTB20	3	114058211	Missense_Mutation	SNP	T	TCGA-HT-7608-01A-11D-2086-08	31350	114058211	83964219	7	8024											
MUC13	56667	broad.mit.edu	37	chr3	124632003	124632003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggtagccgggcacgcacGcacactcaggggccccacca	8	3	12	18	3	1	0	1	0	0	0	1	0	1	0	5	4	1	4	5	4	1	1	rs148368651		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr3:124632003G>A	uc003ehq.2	-	7	1205	c.1166C>T	c.(1165-1167)gCg>gTg	p.A389V		NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN	Homo sapiens mucin 13, cell surface associated (MUC13), mRNA.	389	EGF-like 3.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GGGCACGCACGCACACTCAGG	0.478													3	54					0	0	1	0	0	A	124632003	G	A	124632003	3	1	185	1	0	0	0	0	1	0	0	0	9971	1087	38	1	385	1	MUC13	3	124632003	Missense_Mutation	SNP	G	TCGA-HT-7608-01A-11D-2086-08	10573792	124632003	73390427	8	8025											
OTOP1	133060	broad.mit.edu	37	chr4	4199681	4199681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatggctgtcaactttgcGcccgatgttcttccacagga	7	12	10	12	2	2	1	1	1	1	0	3	3	3	2	2	2	2	2	2	2	1	3			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr4:4199681G>A	uc003ghp.1	-	4	910	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	294					biomineral tissue development	extracellular space|integral to membrane		p.R294C(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCAACTTTGCGCCCGATGTTC	0.567													29	71					0	0	1	0	0	A	4199681	G	A	4199681	3	1	185	1	0	0	0	0	1	0	0	0	11305	1087	38	1	966	1	OTOP1	4	4199681	Missense_Mutation	SNP	G	TCGA-HT-7608-01A-11D-2086-08		4199681	186954595	9	8026											
SLC34A2	10568	broad.mit.edu	37	chr4	25677957	25677957	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctctcgctggccggctggcgGgtgctggttggtgtcggggt	0	11	20	10	4	1	0	0	0	1	0	3	0	1	0	1	8	1	4	1	8	0	1			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr4:25677957G>A	uc003grr.3	+	12	1740	c.1659G>A	c.(1657-1659)cgG>cgA	p.R553R	SLC34A2_uc003grs.3_Silent_p.R552R|SLC34A2_uc010iev.3_Silent_p.R552R	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	553					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.R553W(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CCGGCTGGCGGGTGCTGGTTG	0.597			T	ROS1	NSCLC								6	145					0	0	1	0	0	A	25677957	G	A	25677957	2	1	185	1	0	0	0	0	0	0	0	1	14568	1219	43	3		3	SLC34A2	4	25677957	Silent	SNP	G	TCGA-HT-7608-01A-11D-2086-08	21478276	25677957	165476319	10	8027											
IL17F	112744	broad.mit.edu	37	chr6	52103580	52103580	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgttacgtgacatggaaaCgcgctggttttcattgatga	10	13	12	6	3	1	3	1	3	0	0	1	5	1	4	0	2	2	3	0	2	2	4			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr6:52103580C>T	uc003pam.1	-	1	273	c.202G>A	c.(202-204)Gtt>Att	p.V68I	IL17F_uc003pal.1_Missense_Mutation_p.V14I	NM_052872	NP_443104	Q96PD4	IL17F_HUMAN	Homo sapiens interleukin 17F (IL17F), mRNA.	68					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					GACATGGAAACGCGCTGGTTT	0.448													26	39					0	0	1	0	0	T	52103580	C	T	52103580	3	4	185	1	0	0	0	0	1	0	0	0	7638	536	19	1	297	1	IL17F	6	52103580	Missense_Mutation	SNP	C	TCGA-HT-7608-01A-11D-2086-08		52103580	119011487	11	8028											
PTPRK	5796	broad.mit.edu	37	chr6	128297888	128297888	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccacttggatggggccatAtcgtagcatcccttcctctg	6	13	9	13	1	1	0	0	0	1	0	5	1	4	1	4	3	1	2	4	3	2	5			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr6:128297888A>G	uc003qbk.3	-	26	4247	c.3880T>C	c.(3880-3882)Tat>Cat	p.Y1294H	PTPRK_uc010kfc.3_Missense_Mutation_p.Y1301H|PTPRK_uc003qbj.3_Missense_Mutation_p.Y1295H|PTPRK_uc011ebu.2_Missense_Mutation_p.Y1317H	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	1294	Tyrosine-protein phosphatase 2.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.R1294Q(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATGGGGCCATATCGTAGCATC	0.398													3	63					0	0	1	0	0	G	128297888	A	G	128297888	3	3	185	1	0	0	0	0	1	0	0	0	12805	449	16	3	455	3	PTPRK	6	128297888	Missense_Mutation	SNP	A	TCGA-HT-7608-01A-11D-2086-08	76194308	128297888	42817179	12	8029											
AP1S1	1174	broad.mit.edu	37	chr7	100799992	100799992	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agctcatgcaggttgtcctgGctcgaaagcccaagatgtgc	9	9	12	11	1	1	1	1	0	0	1	3	2	2	1	2	2	4	4	2	2	2	1			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr7:100799992G>C	uc003uxv.4	+	1	231	c.121G>C	c.(121-123)Gct>Cct	p.A41P	MIR4653_uc022aiy.1_5'Flank	NM_001283	NP_001274	P61966	AP1S1_HUMAN	Homo sapiens adaptor-related protein complex 1, sigma 1 subunit (AP1S1), mRNA.	41					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GGTTGTCCTGGCTCGAAAGCC	0.537													4	17					0	0	1	0	0	C	100799992	G	C	100799992	3	2	185	1	0	0	0	0	1	0	0	0	736	1203	42	5	127	5	AP1S1	7	100799992	Missense_Mutation	SNP	G	TCGA-HT-7608-01A-11D-2086-08		100799992	58338671	13	8030											
KCNK18	338567	broad.mit.edu	37	chr10	118957048	118957048	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatgctgcccagaggccCtgggaaagctcttccctggc	7	7	14	13	0	1	2	0	0	1	2	2	4	2	3	3	4	3	2	3	4	1	1			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr10:118957048C>T	uc010qsr.2	+	0	49	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.	17						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CCCAGAGGCCCTGGGAAAGCT	0.632													4	68					0	0	1	0	0	T	118957048	C	T	118957048	2	4	185	1	0	0	0	0	0	0	0	1	8065	680	24	3		3	KCNK18	10	118957048	Silent	SNP	C	TCGA-HT-7608-01A-11D-2086-08		118957048	16577699	14	8031											
PRPF40B	25766	broad.mit.edu	37	chr12	50036431	50036431	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagtcggagcggatccggctCttccgggagttcctacaggt	6	9	15	11	4	1	0	0	0	1	0	5	4	4	3	3	5	2	2	3	5	1	3			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr12:50036431C>G	uc001rur.1	+	19	2088	c.2025C>G	c.(2023-2025)ctC>ctG	p.L675L	FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001rup.1_Silent_p.L697L|PRPF40B_uc001ruq.1_Silent_p.L662L|PRPF40B_uc001rus.1_Silent_p.L618L|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	675					RNA splicing|mRNA processing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GGATCCGGCTCTTCCGGGAGT	0.557													25	24					0	0	1	0	0	G	50036431	C	G	50036431	2	3	185	1	0	0	0	0	0	0	0	1	12572	900	32	5		5	PRPF40B	12	50036431	Silent	SNP	C	TCGA-HT-7608-01A-11D-2086-08		50036431	83815464	15	8032											
PRIM1	5557	broad.mit.edu	37	chr12	57136804	57136804	+	Frame_Shift_Del	DEL	T	T	-																															ggctaaaatcttatcccagcTttctttattttcgagaatat																										TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr12:57136804delT	uc001smd.3	-	6	779	c.715delA	c.(715-717)agcfs	p.S239fs		NM_000946	NP_000937	P49642	PRI1_HUMAN	Homo sapiens primase, DNA, polypeptide 1 (49kDa) (PRIM1), mRNA.	239					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding			kidney(1)|lung(6)|prostate(1)	8						TTATCCCAGCTTTCTTTATTT	0.299													2	4	---	---	---	---						-	57136804	T	-	57136804	7	5	185	1	0	1	0	1	0	0	0	0	12490	1609	56	0	575	0	PRIM1	12	57136804	Frame_Shift_Del	DEL	T	TCGA-HT-7608-01A-11D-2086-08	7100373	57136804	76715091	16	8033											
EIF2B1	1967	broad.mit.edu	37	chr12	124111689	124111689	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaccactctggagtaggcGtgagtcaatattgtctgtgg	9	11	14	7	1	3	1	1	1	2	0	3	3	3	3	1	4	0	1	1	4	3	3	rs146748240	byFrequency	TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr12:124111689G>A	uc001ufm.3	-	4	603	c.384C>T	c.(382-384)caC>caT	p.H128H	EIF2B1_uc010tat.2_Silent_p.H128H	NM_001414	NP_001405	Q14232	EI2BA_HUMAN	Homo sapiens eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa (EIF2B1), mRNA.	128					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		TGGAGTAGGCGTGAGTCAATA	0.562													8	120					0	0	1	0	0	A	124111689	G	A	124111689	2	1	185	1	0	0	0	0	0	0	0	1	5000	1136	40	1		1	EIF2B1	12	124111689	Silent	SNP	G	TCGA-HT-7608-01A-11D-2086-08	66974885	124111689	9740206	17	8034											
TSHR	7253	broad.mit.edu	37	chr14	81609744	81609744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagccactacaaactgaacGtcccccgctttctcatgtgc	9	9	6	17	2	1	1	1	1	1	0	3	1	2	1	4	0	5	1	4	0	3	2	rs146403935	by1000genomes	TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr14:81609744G>A	uc001xvd.1	+	9	1498	c.1342G>A	c.(1342-1344)Gtc>Atc	p.V448I		NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	448					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity	p.N447K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CAAACTGAACGTCCCCCGCTT	0.517			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						12	163					0	0	1	0	0	A	81609744	G	A	81609744	3	1	185	1	0	0	0	0	1	0	0	0	16619	1145	40	1	1517	1	TSHR	14	81609744	Missense_Mutation	SNP	G	TCGA-HT-7608-01A-11D-2086-08		81609744	25739796	18	8035											
BTBD1	53339	broad.mit.edu	37	chr15	83687454	83687457	+	Splice_Site	DEL	CTTA	CTTA	-																															ctggaacatagtgcatgactCttactttgagtgttgcacat																										TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr15:83687454_83687457delCTTA	uc002bjn.3	-	7	1493	c.1290_splice	c.e7+1	p.K430_splice	BTBD1_uc002bjo.3_Splice_Site	NM_025238	NP_079514	Q9H0C5	BTBD1_HUMAN	Homo sapiens BTB (POZ) domain containing 1 (BTBD1), transcript variant 1, mRNA.	430						cytoplasmic mRNA processing body|protein complex	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		GTGCATGACTCTTACTTTGAGTGT	0.441													22	55	---	---	---	---						-	83687457	CTTA	-	83687454	8	5	185	1	0	1	0	1	0	0	1	0	1537	928	32	0		0	BTBD1	15	83687454	Splice_Site	DEL	CTTA	TCGA-HT-7608-01A-11D-2086-08		83687454	18843938	19	8036											
KLHL25	64410	broad.mit.edu	37	chr15	86312652	86312652	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcagcatcccgcacatcGtggaactgcagcatgtcgcc	8	6	12	15	4	0	0	0	0	0	0	3	1	1	1	2	2	4	5	2	2	1	0			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr15:86312652G>A	uc002bly.3	-	1	593	c.390C>T	c.(388-390)caC>caT	p.H130H	KLHL25_uc021stw.1_Silent_p.H130H	NM_022480	NP_071925	Q9H0H3	ENC2_HUMAN	Homo sapiens kelch-like 25 (Drosophila) (KLHL25), mRNA.	130						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CCCGCACATCGTGGAACTGCA	0.622													10	53					0	0	1	0	0	A	86312652	G	A	86312652	2	1	185	1	0	0	0	0	0	0	0	1	8380	1136	40	1		1	KLHL25	15	86312652	Silent	SNP	G	TCGA-HT-7608-01A-11D-2086-08	2625198	86312652	16218740	20	8037											
MYH10	4628	broad.mit.edu	37	chr17	8449945	8449945	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgagtaaactccatcaCattcatcccaagaagatggc	13	7	8	13	1	2	2	2	0	0	2	4	3	4	2	3	2	1	1	3	2	4	2			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr17:8449945C>A	uc002glm.3	-	11	1291	c.1195G>T	c.(1195-1197)Gtg>Ttg	p.V399L	MYH10_uc002gll.3_Missense_Mutation_p.V389L|MYH10_uc010cnx.3_Missense_Mutation_p.V398L	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	389	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AACTCCATCACATTCATCCCA	0.433													3	55					1	1	1	1	0	A	8449945	C	A	8449945	3	1	185	1	0	0	0	0	1	0	0	0	10030	478	17	5	4889	5	MYH10	17	8449945	Missense_Mutation	SNP	C	TCGA-HT-7608-01A-11D-2086-08		8449945	72745265	21	8038											
MYH8	4626	broad.mit.edu	37	chr17	10299697	10299697	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatttctcttgttctacttGcttctttattttctccaatt	6	23	2	10	0	4	0	0	0	4	0	6	0	4	0	1	0	2	2	1	0	3	11			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr17:10299697G>A	uc002gmm.2	-	32	4698	c.4603C>T	c.(4603-4605)Caa>Taa	p.Q1535*	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1535					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGTTCTACTTGCTTCTTTATT	0.383									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				5	24					0	0	1	0	0	A	10299697	G	A	10299697	4	1	185	1	0	0	0	0	0	1	0	0	10041	1328	46	3	1242	3	MYH8	17	10299697	Nonsense_Mutation	SNP	G	TCGA-HT-7608-01A-11D-2086-08	1849752	10299697	70895513	22	8039											
NF1	4763	broad.mit.edu	37	chr17	29562639	29562639	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgttctcaggatgaactagCtcgagttctggttactctgt	7	16	10	8	1	3	1	1	1	3	0	5	3	3	2	0	2	3	4	0	2	3	5			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr17:29562639C>G	uc002hgg.3	+	27	4102	c.3719C>G	c.(3718-3720)gCt>gGt	p.A1240G	NF1_uc002hgh.3_Missense_Mutation_p.A1240G|NF1_uc010csn.2_Missense_Mutation_p.A1100G|NF1_uc002hgi.1_Missense_Mutation_p.A273G	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1240	Ras-GAP.				MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GATGAACTAGCTCGAGTTCTG	0.383			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			10	250					0	0	1	0	0	G	29562639	C	G	29562639	3	3	185	1	0	0	0	0	1	0	0	0	10356	797	28	5	3890	5	NF1	17	29562639	Missense_Mutation	SNP	C	TCGA-HT-7608-01A-11D-2086-08	19262942	29562639	51632571	23	8040											
KRT15	3866	broad.mit.edu	37	chr17	39673185	39673185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgttgatgtcagcctcaaCgccctggcgcagggccagct	6	7	13	15	3	2	1	2	1	0	0	2	1	2	1	4	2	3	3	4	2	1	1	rs138271368		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr17:39673185C>T	uc002hwy.3	-	2	804	c.613G>A	c.(613-615)Gtt>Att	p.V205I	KRT15_uc002hwz.3_Missense_Mutation_p.V107I|KRT15_uc002hxa.3_Missense_Mutation_p.V40I|KRT15_uc002hxb.1_Missense_Mutation_p.V40I	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	205	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	p.V205I(6)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TCAGCCTCAACGCCCTGGCGC	0.612													13	69					0	0	1	0	0	T	39673185	C	T	39673185	3	4	185	1	0	0	0	0	1	0	0	0	8452	536	19	1	781	1	KRT15	17	39673185	Missense_Mutation	SNP	C	TCGA-HT-7608-01A-11D-2086-08	10110546	39673185	41522025	24	8041											
POTEC	388468	broad.mit.edu	37	chr18	14543092	14543092	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccatcttgctcctgagatcGaatggcttcttcacagcaga	9	11	8	13	1	3	2	1	1	2	2	5	4	4	2	2	1	2	3	2	1	1	3	rs45502401		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr18:14543092G>A	uc010dln.3	-	0	508	c.54C>T	c.(52-54)ttC>ttT	p.F18F	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	18										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TCCTGAGATCGAATGGCTTCT	0.572													5	114					0	0	1	0	0	A	14543092	G	A	14543092	2	1	185	1	0	0	0	0	0	0	0	1	12262	1049	37	2		2	POTEC	18	14543092	Silent	SNP	G	TCGA-HT-7608-01A-11D-2086-08		14543092	63534156	25	8042											
ZNF709	163051	broad.mit.edu	37	chr19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggtttctctccagtgtgaGttctttcatgcattcgaaag	7	15	11	8	1	3	1	1	1	2	0	6	2	4	1	1	2	1	3	1	2	1	4			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr19:12575498G>A	uc002mtv.4	-	3	1399	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	ZNF709_uc002mtw.4_Missense_Mutation_p.T381I|ZNF709_uc002mtx.4_Missense_Mutation_p.T413I	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T413I(2)|p.R412I(1)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418													5	138					0	0	1	0	0	A	12575498	G	A	12575498	3	1	185	1	0	0	0	0	1	0	0	0	18110	1029	36	3	691	3	ZNF709	19	12575498	Missense_Mutation	SNP	G	TCGA-HT-7608-01A-11D-2086-08		12575498	46553485	26	8043											
AXL	558	broad.mit.edu	37	chr19	41763470	41763470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atccgggcgtggagaacagcGagatttatgactatctgcgc	10	9	13	9	4	1	3	0	1	1	2	2	5	2	3	1	2	3	0	1	2	3	3			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr19:41763470G>A	uc010ehj.3	+	18	2459	c.2269G>A	c.(2269-2271)Gag>Aag	p.E757K	AXL_uc010ehk.3_Missense_Mutation_p.E748K	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	757	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.G756E(1)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GGAGAACAGCGAGATTTATGA	0.557													5	98					0	0	1	0	0	A	41763470	G	A	41763470	3	1	185	1	0	0	0	0	1	0	0	0	1238	1059	37	2	2343	2	AXL	19	41763470	Missense_Mutation	SNP	G	TCGA-HT-7608-01A-11D-2086-08	29187972	41763470	17365513	27	8044											
CIC	23152	broad.mit.edu	37	chr19	42792020	42792021	+	Frame_Shift_Del	DEL	AG	AG	-																															gtggtgcaacaaggaccgaaAgaagtccagctcagaggcca																										TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr19:42792020_42792021delAG	uc002otf.1	+	5	864_865	c.824_825delAG	c.(823-825)aagfs	p.K275fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R274*(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AAGGACCGAAAGAAGTCCAGCT	0.649			"Mis, F, S"		oligodendroglioma								5	5	---	---	---	---						-	42792021	AG	-	42792020	7	5	185	1	0	1	0	1	0	0	0	0	3424	72	3	0	846	0	CIC	19	42792020	Frame_Shift_Del	DEL	AG	TCGA-HT-7608-01A-11D-2086-08	1028550	42792020	16336963	28	8045											
RIPK4	54101	broad.mit.edu	37	chr21	43161859	43161859	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactggtcctcatccttggcGttgacactgatcttccgcgc	5	12	9	15	3	2	2	1	2	1	0	5	2	5	2	3	2	0	1	3	2	0	3			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr21:43161859G>A	uc002yzn.1	-	7	1542	c.1494C>T	c.(1492-1494)aaC>aaT	p.N498N		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	498						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.N498D(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CATCCTTGGCGTTGACACTGA	0.632													8	102					0	0	1	0	0	A	43161859	G	A	43161859	2	1	185	1	0	0	0	0	0	0	0	1	13383	1136	40	1		1	RIPK4	21	43161859	Silent	SNP	G	TCGA-HT-7608-01A-11D-2086-08		43161859	4968036	29	8046											
TOP3B	8940	broad.mit.edu	37	chr22	22322990	22322990	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaatagagaaaggcaaggaaCcttggcctgcagcacccagt	14	5	12	10	0	0	1	0	0	0	1	0	4	0	2	3	3	3	3	3	3	5	2			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr22:22322990C>A	uc002zvs.3	-	7	1173	c.738_splice	c.e7+1	p.K246_splice	TOP3B_uc010gtm.2_5'Flank|TOP3B_uc002zvt.4_Splice_Site_p.K246_splice|TOP3B_uc010gtl.3_Splice_Site_p.K246_splice	NM_003935	NP_003926	O95985	TOP3B_HUMAN	Homo sapiens topoisomerase (DNA) III beta (TOP3B), mRNA.	246					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		AGGCAAGGAACCTTGGCCTGC	0.552													19	58					5.26018e-13	5.52993e-13	1	1	0	A	22322990	C	A	22322990	5	1	185	1	0	0	0	0	0	0	1	0	16365	521	18	5	1897	5	TOP3B	22	22322990	Splice_Site	SNP	C	TCGA-HT-7608-01A-11D-2086-08		22322990	28981576	30	8047											
RASD2	23551	broad.mit.edu	37	chr22	35947956	35947956	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgcgtcaaggagatggaCgcctatggcatggtctcgcc	7	7	14	13	5	2	1	1	0	1	1	3	3	2	2	3	4	0	1	3	4	2	1	rs144245051		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr22:35947956C>T	uc003anx.3	+	2	883	c.678C>T	c.(676-678)gaC>gaT	p.D226D	RASD2_uc003any.3_Silent_p.D226D	NM_014310	NP_055125	Q96D21	RHES_HUMAN	Homo sapiens RASD family, member 2 (RASD2), mRNA.	226	Interaction with GNB1, GNB2 and GNB3.				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity	p.D226D(2)		endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						AGGAGATGGACGCCTATGGCA	0.642													21	44					0	0	1	0	0	T	35947956	C	T	35947956	2	4	185	1	0	0	0	0	0	0	0	1	13067	535	19	1		1	RASD2	22	35947956	Silent	SNP	C	TCGA-HT-7608-01A-11D-2086-08	13624966	35947956	15356610	31	8048											
CACNA1F	778	broad.mit.edu	37	chrX	49063294	49063294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgagcacgggggagtccctgCctgctcatctaggtaggaaa	9	8	14	10	1	2	1	1	1	1	0	3	3	3	3	2	4	3	3	2	4	3	2			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chrX:49063294C>T	uc004dnb.3	-	44	5349	c.5287G>A	c.(5287-5289)Gca>Aca	p.A1763T	CACNA1F_uc010nip.3_Missense_Mutation_p.A1752T	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1763					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GGAGTCCCTGCCTGCTCATCT	0.637													3	37					0	0	1	0	0	T	49063294	C	T	49063294	3	4	185	1	0	0	0	0	1	0	0	0	2543	739	26	3	662	3	CACNA1F	23	49063294	Missense_Mutation	SNP	C	TCGA-HT-7608-01A-11D-2086-08		49063294	106207266	32	8049											
NPR1	4881	broad.mit.edu	37	chr1	153654206	153654206	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatcccagcatccttccaCgacgggctcctgctctatat	8	10	6	17	2	1	0	0	0	1	0	5	1	5	0	5	1	2	3	5	1	2	3	rs148390726		TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr1:153654206C>T	uc001fcs.4	+	3	1483	c.1062C>T	c.(1060-1062)caC>caT	p.H354H	NPR1_uc010pdz.2_Silent_p.H100H	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	354					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CATCCTTCCACGACGGGCTCC	0.582													6	99					0	0	1	0	0	T	153654206	C	T	153654206	2	4	186	1	0	0	0	0	0	0	0	1	10594	535	19	1		1	NPR1	1	153654206	Silent	SNP	C	TCGA-HT-7609-01A-11D-2086-08		153654206	95596415	1	8050											
TNNI1	7135	broad.mit.edu	37	chr1	201382170	201382170	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttagactcacctccctggtgTtgtggaggcatttggcctca	6	13	11	11	0	2	1	2	0	0	1	3	2	3	2	3	4	0	2	3	4	1	3			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr1:201382170T>C	uc021phe.1	-	4	269	c.269A>G	c.(268-270)aAc>aGc	p.N90S	TNNI1_uc021phd.1_Missense_Mutation_p.N69S|TNNI1_uc001gwo.1_Non-coding_Transcript|TNNI1_uc001gwp.3_Missense_Mutation_p.N69S	NM_003281	NP_003272	P19237	TNNI1_HUMAN	Homo sapiens troponin I type 1 (skeletal, slow) (TNNI1), mRNA.	90					muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						CTCCCTGGTGTTGTGGAGGCA	0.622													18	396					0	0	1	0	0	C	201382170	T	C	201382170	3	2	186	1	0	0	0	0	1	0	0	0	16323	1725	60	3	306	3	TNNI1	1	201382170	Missense_Mutation	SNP	T	TCGA-HT-7609-01A-11D-2086-08	47727964	201382170	47868451	2	8051											
TFCP2L1	29842	broad.mit.edu	37	chr2	121991692	121991692	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttgctgtctccactgccGtcccgcttctgctgcagggg	3	11	13	14	2	2	0	0	0	2	0	4	0	3	0	3	3	4	5	3	3	0	2	rs140466557	by1000genomes	TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr2:121991692G>A	uc002tmx.3	-	11	1266	c.1173C>T	c.(1171-1173)gaC>gaT	p.D391D	TFCP2L1_uc010flr.3_Silent_p.D391D|TFCP2L1_uc010flq.3_Non-coding_Transcript	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	Homo sapiens transcription factor CP2-like 1 (TFCP2L1), mRNA.	391					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CTCCACTGCCGTCCCGCTTCT	0.572													14	119					0	0	1	0	0	A	121991692	G	A	121991692	2	1	186	1	0	0	0	0	0	0	0	1	15793	1136	40	1		1	TFCP2L1	2	121991692	Silent	SNP	G	TCGA-HT-7609-01A-11D-2086-08		121991692	121207681	3	8052											
FKBP7	51661	broad.mit.edu	37	chr2	179341854	179341854	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgcttttctccagggcacAtatctgtcatagcaatgtct	8	15	7	11	1	4	0	1	0	3	0	6	0	4	0	1	1	1	3	1	1	3	5	rs144779588		TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr2:179341854A>G	uc002umk.3	-	1	437	c.308T>C	c.(307-309)aTg>aCg	p.M103T	MIR548N_uc021vsx.1_Intron|FKBP7_uc002umm.3_Missense_Mutation_p.M103T|FKBP7_uc002uml.3_Non-coding_Transcript|FKBP7_uc010zff.2_Missense_Mutation_p.M99T	NM_181342	NP_851939	Q9Y680	FKBP7_HUMAN	Homo sapiens FK506 binding protein 7 (FKBP7), transcript variant 1, mRNA.	103	PPIase FKBP-type.				protein folding	endoplasmic reticulum lumen|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TCCAGGGCACATATCTGTCAT	0.393													41	63					0	0	1	0	0	G	179341854	A	G	179341854	3	3	186	1	0	0	0	0	1	0	0	0	5913	217	8	3	372	3	FKBP7	2	179341854	Missense_Mutation	SNP	A	TCGA-HT-7609-01A-11D-2086-08	57350162	179341854	63857519	4	8053											
NCKAP1	10787	broad.mit.edu	37	chr2	183829476	183829476	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatgcaattgagtatctTgattgagagggtaactccaa	14	11	11	5	0	1	3	0	3	1	1	2	5	2	4	1	2	2	3	1	2	5	5			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr2:183829476T>C	uc002upc.3	-	16	2091	c.1689A>G	c.(1687-1689)tcA>tcG	p.S563S	NCKAP1_uc002upb.3_Silent_p.S569S	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	Homo sapiens NCK-associated protein 1 (NCKAP1), transcript variant 1, mRNA.	563					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTGAGTATCTTGATTGAGAGG	0.323													6	79					0	0	1	0	0	C	183829476	T	C	183829476	2	2	186	1	0	0	0	0	0	0	0	1	10221	1799	63	3		3	NCKAP1	2	183829476	Silent	SNP	T	TCGA-HT-7609-01A-11D-2086-08	4487622	183829476	59369897	5	8054											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								35	48					0	0	1	0	0	T	209113112	C	T	209113112	3	4	186	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7609-01A-11D-2086-08	25283636	209113112	34086261	6	8055											
KLHL30	377007	broad.mit.edu	37	chr2	239059501	239059501	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatggcgcgctggtgccacTgggtgatgcgctgtacgtga	6	9	17	9	4	0	2	0	2	0	0	0	3	0	2	1	3	3	3	1	3	2	1			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr2:239059501T>C	uc002vxr.2	+	7	1639	c.1532T>C	c.(1531-1533)cTg>cCg	p.L511P		NM_198582	NP_940984	Q0D2K2	KLH30_HUMAN	Homo sapiens kelch-like 30 (Drosophila) (KLHL30), mRNA.	511										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CTGGTGCCACTGGGTGATGCG	0.662													5	9					0	0	1	0	0	C	239059501	T	C	239059501	3	2	186	1	0	0	0	0	1	0	0	0	8384	1580	55	4	1558	4	KLHL30	2	239059501	Missense_Mutation	SNP	T	TCGA-HT-7609-01A-11D-2086-08	29946389	239059501	4139872	7	8056											
SLC34A2	10568	broad.mit.edu	37	chr4	25677849	25677849	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccatccgcatggccaagggGctgggcaacatctctgccaa	9	6	11	15	1	1	0	0	0	1	0	3	0	2	0	4	4	2	3	4	4	3	0			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr4:25677849G>A	uc003grr.3	+	12	1632	c.1551G>A	c.(1549-1551)ggG>ggA	p.G517G	SLC34A2_uc003grs.3_Silent_p.G516G|SLC34A2_uc010iev.3_Silent_p.G516G	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	517					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TGGCCAAGGGGCTGGGCAACA	0.577			T	ROS1	NSCLC								68	94					0	0	1	0	0	A	25677849	G	A	25677849	2	1	186	1	0	0	0	0	0	0	0	1	14568	1190	42	3		3	SLC34A2	4	25677849	Silent	SNP	G	TCGA-HT-7609-01A-11D-2086-08		25677849	165476427	8	8057											
MCCC2	64087	broad.mit.edu	37	chr5	70944989	70944989	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggtgccaagatggtggccGctgtggcctgtgcccaagtg	6	9	16	10	1	0	1	0	0	0	1	0	1	0	1	4	4	2	1	4	4	2	0			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr5:70944989G>A	uc003kbs.4	+	13	1420	c.1282G>A	c.(1282-1284)Gct>Act	p.A428T	MCCC2_uc003kbt.4_Non-coding_Transcript	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 2 (beta) (MCCC2), nuclear gene encoding mitochondrial protein, mRNA.	428	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	GATGGTGGCCGCTGTGGCCTG	0.512													3	60					0	0	1	0	0	A	70944989	G	A	70944989	3	1	186	1	0	0	0	0	1	0	0	0	9375	1087	38	1	1336	1	MCCC2	5	70944989	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08		70944989	109970271	9	8058											
SSBP2	23635	broad.mit.edu	37	chr5	80785076	80785076	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acataaatcttacctgattaGgtatcctcaatgggggcctt	11	13	8	9	0	2	1	1	1	1	0	3	1	3	1	3	3	1	1	3	3	6	5			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr5:80785076G>T	uc003khp.3	-	5	636	c.425C>A	c.(424-426)cCt>cAt	p.P142H	SSBP2_uc003khn.3_Missense_Mutation_p.P16H|SSBP2_uc011ctr.2_Missense_Mutation_p.P112H|SSBP2_uc003kho.3_Missense_Mutation_p.P142H|SSBP2_uc011ctp.2_Intron|SSBP2_uc011ctq.2_Missense_Mutation_p.P112H	NM_012446	NP_036578	P81877	SSBP2_HUMAN	Homo sapiens single-stranded DNA binding protein 2 (SSBP2), mRNA.	142	Pro-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		TACCTGATTAGGTATCCTCAA	0.328													6	28					5.9392e-07	6.70064e-07	1	1	0	T	80785076	G	T	80785076	3	4	186	1	0	0	0	0	1	0	0	0	15179	1000	35	5	708	5	SSBP2	5	80785076	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08	9840087	80785076	100130184	10	8059											
PJA2	9867	broad.mit.edu	37	chr5	108717302	108717302	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctggtcatacatggtttaAaactgacataagcatgtctt	12	14	8	7	0	3	1	1	1	2	0	3	1	3	1	0	2	3	2	0	2	4	5			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr5:108717302A>C	uc003kos.4	-	2	354	c.134T>G	c.(133-135)tTt>tGt	p.F45C		NM_014819	NP_055634	O43164	PJA2_HUMAN	Homo sapiens praja ring finger 2 (PJA2), mRNA.	45					long-term memory|regulation of protein kinase A signaling cascade	Golgi membrane|cell junction|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		ACATGGTTTAAAACTGACATA	0.443													9	76					0	0	1	0	0	C	108717302	A	C	108717302	3	2	186	1	0	0	0	0	1	0	0	0	11962	14	1	5	2024	5	PJA2	5	108717302	Missense_Mutation	SNP	A	TCGA-HT-7609-01A-11D-2086-08	27932226	108717302	72197958	11	8060											
FTMT	94033	broad.mit.edu	37	chr5	121188111	121188111	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaagaagccggaacaggaCgactgggaaagcgggctgca	14	3	15	9	3	1	1	1	0	0	1	1	5	1	4	1	4	4	2	1	4	4	0			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr5:121188111C>T	uc003kss.3	+	0	462	c.453C>T	c.(451-453)gaC>gaT	p.D151D		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	151	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	p.D151D(2)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CGGAACAGGACGACTGGGAAA	0.582													11	114					0	0	1	0	0	T	121188111	C	T	121188111	2	4	186	1	0	0	0	0	0	0	0	1	6085	535	19	1		1	FTMT	5	121188111	Silent	SNP	C	TCGA-HT-7609-01A-11D-2086-08	12470809	121188111	59727149	12	8061											
PCDHB3	56132	broad.mit.edu	37	chr5	140482147	140482147	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgcgacgcggccaagcaCaggctggtggtgctggtcaa	8	5	17	11	4	1	0	1	0	0	0	1	2	1	0	1	5	3	3	1	5	2	0	rs144773246	byFrequency	TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr5:140482147C>G	uc003lio.3	+	0	1914	c.1914C>G	c.(1912-1914)caC>caG	p.H638Q	BC016751_uc003lin.3_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	638	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.H638Q(2)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCCAAGCACAGGCTGGTGG	0.697													4	109					0	0	1	0	0	G	140482147	C	G	140482147	3	3	186	1	0	0	0	0	1	0	0	0	11543	477	17	5	1916	5	PCDHB3	5	140482147	Missense_Mutation	SNP	C	TCGA-HT-7609-01A-11D-2086-08	19294036	140482147	40433113	13	8062											
CCDC69	26112	broad.mit.edu	37	chr5	150565607	150565607	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatatgtttcttatagtttcGgctcagaatggactcctcca	9	15	8	9	1	2	1	1	0	1	1	5	3	4	2	2	2	0	3	2	2	4	5			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr5:150565607G>A	uc003ltq.3	-	5	595	c.472C>T	c.(472-474)Cga>Tga	p.R158*	CCDC69_uc010jhu.3_Nonsense_Mutation_p.R11*|CCDC69_uc011dcq.2_Non-coding_Transcript	NM_015621	NP_056436	A6NI79	CCD69_HUMAN	Homo sapiens coiled-coil domain containing 69 (CCDC69), mRNA.	158										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTATAGTTTCGGCTCAGAATG	0.557													10	102					0	0	1	0	0	A	150565607	G	A	150565607	4	1	186	1	0	0	0	0	0	1	0	0	2841	1124	39	2	434	2	CCDC69	5	150565607	Nonsense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08	10083460	150565607	30349653	14	8063											
GRIK2	2898	broad.mit.edu	37	chr6	102372528	102372528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcaaccctgactcagacGtggtggaaaacaattttacc	12	10	8	11	1	1	2	1	1	0	1	1	3	1	3	2	2	4	1	2	2	5	3			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr6:102372528G>A	uc003pqp.4	+	11	2094	c.1801G>A	c.(1801-1803)Gtg>Atg	p.V601M	GRIK2_uc010kcw.3_Missense_Mutation_p.V601M|GRIK2_uc003pqo.4_Missense_Mutation_p.V601M|GRIK2_uc021zdk.1_Intron|GRIK2_uc021zdl.1_Intron	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	601					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.D600D(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TGACTCAGACGTGGTGGAAAA	0.418													9	102					0	0	1	0	0	A	102372528	G	A	102372528	3	1	186	1	0	0	0	0	1	0	0	0	6774	1145	40	1	1847	1	GRIK2	6	102372528	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08		102372528	68742539	15	8064											
HECA	51696	broad.mit.edu	37	chr6	139487914	139487914	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactcccaggagaaggcagtGggtgccgcagcctacggtgc	9	5	15	12	2	0	1	0	0	0	1	1	2	1	1	3	4	5	2	3	4	3	1			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr6:139487914G>T	uc003qin.3	+	1	1050	c.765G>T	c.(763-765)gtG>gtT	p.V255V		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	Homo sapiens headcase homolog (Drosophila) (HECA), mRNA.	255					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		AGAAGGCAGTGGGTGCCGCAG	0.677													3	23					1	1	1	1	0	T	139487914	G	T	139487914	2	4	186	1	0	0	0	0	0	0	0	1	7038	1335	47	5		5	HECA	6	139487914	Silent	SNP	G	TCGA-HT-7609-01A-11D-2086-08	37115386	139487914	31627153	16	8065											
PLEKHG1	57480	broad.mit.edu	37	chr6	151054744	151054744	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccagttgcgtcttgaagTgccatcagctgtaaccaaag	11	9	10	11	1	2	1	1	1	1	0	2	1	2	1	3	0	4	4	3	0	3	3			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr6:151054744T>C	uc011eem.1	+	1	192	c.104T>C	c.(103-105)gTg>gCg	p.V35A	PLEKHG1_uc011eel.1_Missense_Mutation_p.V16A|PLEKHG1_uc003qny.1_5'UTR|PLEKHG1_uc003qnz.2_5'UTR	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	0					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		CGTCTTGAAGTGCCATCAGCT	0.453													6	6					0	0	1	0	0	C	151054744	T	C	151054744	3	2	186	1	0	0	0	0	1	0	0	0	12068	1711	59	3		3	PLEKHG1	6	151054744	Missense_Mutation	SNP	T	TCGA-HT-7609-01A-11D-2086-08	11566830	151054744	20060323	17	8066											
DOCK4	9732	broad.mit.edu	37	chr7	111624387	111624387	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagagctcagtaatgctgaTgtcttccggatccaccattg	9	12	10	10	1	2	2	1	1	1	1	4	3	4	3	3	1	2	4	3	1	2	4			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr7:111624387T>C	uc003vfy.3	-	6	792	c.523A>G	c.(523-525)Atc>Gtc	p.I175V	DOCK4_uc003vfx.3_Missense_Mutation_p.I175V|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Missense_Mutation_p.I175V	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	175					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GTAATGCTGATGTCTTCCGGA	0.463													7	15					0	0	1	0	0	C	111624387	T	C	111624387	3	2	186	1	0	0	0	0	1	0	0	0	4689	1464	51	3	5561	3	DOCK4	7	111624387	Missense_Mutation	SNP	T	TCGA-HT-7609-01A-11D-2086-08		111624387	47514276	18	8067											
CSMD3	114788	broad.mit.edu	37	chr8	113504737	113504737	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgacaacttggcaaggcTctattccatccaggtcttcc	9	11	7	14	0	2	1	0	1	2	0	5	1	5	1	4	3	1	2	4	3	3	4			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr8:113504737T>C	uc003ynu.3	-	30	5418	c.5259A>G	c.(5257-5259)agA>agG	p.R1753R	CSMD3_uc003yns.3_Silent_p.R1025R|CSMD3_uc003ynt.3_Silent_p.R1713R|CSMD3_uc011lhx.2_Silent_p.R1649R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1753	Sushi 9.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTGGCAAGGCTCTATTCCATC	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	105					0	0	1	0	0	C	113504737	T	C	113504737	2	2	186	1	0	0	0	0	0	0	0	1	3946	1548	54	4		4	CSMD3	8	113504737	Silent	SNP	T	TCGA-HT-7609-01A-11D-2086-08		113504737	32859285	19	8068											
GRINA	2907	broad.mit.edu	37	chr8	145066754	145066754	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatcgtgtacgcctcacTgggcgctctgctcttcacct	5	11	11	14	3	4	1	2	0	2	1	5	2	4	1	2	2	2	3	2	2	1	2			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr8:145066754T>A	uc003zan.1	+	5	1110	c.944T>A	c.(943-945)cTg>cAg	p.L315Q	GRINA_uc003zao.1_Missense_Mutation_p.L315Q|GRINA_uc003zap.1_Missense_Mutation_p.L315Q	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) (GRINA), transcript variant 2, mRNA.	315						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TACGCCTCACTGGGCGCTCTG	0.617													20	37					0	0	1	0	0	A	145066754	T	A	145066754	3	1	186	1	0	0	0	0	1	0	0	0	6785	1580	55	5	962	5	GRINA	8	145066754	Missense_Mutation	SNP	T	TCGA-HT-7609-01A-11D-2086-08	31562017	145066754	1297268	20	8069											
TLN1	7094	broad.mit.edu	37	chr9	35715132	35715132	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgcgcagcccctcagctGcctcccgcagccgctgctgc	4	6	10	21	3	1	0	1	0	0	0	2	0	2	0	6	0	7	5	6	0	0	0			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr9:35715132G>T	uc003zxt.2	-	20	3032	c.2678C>A	c.(2677-2679)gCa>gAa	p.A893E		NM_006289	NP_006280	Q9Y490	TLN1_HUMAN	Homo sapiens talin 1 (TLN1), mRNA.	893					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCCCTCAGCTGCCTCCCGCAG	0.622													5	55					1	1	1	1	0	T	35715132	G	T	35715132	3	4	186	1	0	0	0	0	1	0	0	0	15944	1319	46	5	5095	5	TLN1	9	35715132	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08		35715132	105498299	21	8070											
WEE1	7465	broad.mit.edu	37	chr11	9595595	9595597	+	In_Frame_Del	DEL	GAG	GAG	-																															actgtgaggaggaggaagaaGaggaggaggaggagggcagc																										TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr11:9595595_9595597delGAG	uc001mhs.3	+	0	368_370	c.115_117delGAG	c.(115-117)gagdel	p.E43del	WEE1_uc001mht.3_5'Flank|WEE1_uc001mhu.3_5'Flank	NM_003390	NP_001137448	P30291	WEE1_HUMAN	Homo sapiens WEE1 homolog (S. pombe) (WEE1), transcript variant 1, mRNA.	43	Poly-Glu.				G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|blood coagulation|cell cycle checkpoint|cell division|mitosis	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity	p.E39delE(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		ggaggaagaagaggaggaggagg	0.739													2	4	---	---	---	---						-	9595597	GAG	-	9595595	7	5	186	1	0	1	0	1	0	0	0	0	17341	943	33	0	117	0	WEE1	11	9595595	In_Frame_Del	DEL	GAG	TCGA-HT-7609-01A-11D-2086-08		9595595	125410921	22	8071											
PRG3	10394	broad.mit.edu	37	chr11	57144243	57144243	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaacgagagtcaggaaatGctgtgggaagtctggattta	14	9	14	4	1	2	2	1	0	1	2	2	6	2	5	0	3	2	1	0	3	4	2			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr11:57144243G>A	uc001njv.2	-	6	869	c.759_splice	c.e6+1			NM_006093	NP_006084	Q9Y2Y8	PRG3_HUMAN	Homo sapiens proteoglycan 3 (PRG3), mRNA.						basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation		sugar binding			large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						GTCAGGAAATGCTGTGGGAAG	0.547													41	48					0	0	1	0	0	A	57144243	G	A	57144243	5	1	186	1	0	0	0	0	0	0	1	0	12480	1333	46	3		3	PRG3	11	57144243	Splice_Site	SNP	G	TCGA-HT-7609-01A-11D-2086-08	47548648	57144243	77862273	23	8072											
PCBP2	5094	broad.mit.edu	37	chr12	53865444	53865444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattggctgcataatcgggcGtcaaggcgccaaaatcaatg	12	8	12	9	3	2	0	2	0	0	0	3	1	2	0	1	3	1	2	1	3	5	2			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr12:53865444G>A	uc001sdl.4	+	13	1264	c.914G>A	c.(913-915)cGt>cAt	p.R305H	PCBP2_uc001sde.4_Missense_Mutation_p.R301H|PCBP2_uc001sdi.4_Missense_Mutation_p.R275H|PCBP2_uc001sdd.4_Missense_Mutation_p.R271H|PCBP2_uc001sdf.4_Missense_Mutation_p.R258H|PCBP2_uc001sdc.4_Missense_Mutation_p.R306H|PCBP2_uc001sdb.4_Missense_Mutation_p.R302H|PCBP2_uc010soi.2_Missense_Mutation_p.R43H|PCBP2_uc010soj.2_Missense_Mutation_p.R55H|PCBP2_uc001sdk.4_Missense_Mutation_p.R78H	NM_001128911	NP_001122383	Q15366	PCBP2_HUMAN	Homo sapiens poly(rC) binding protein 2 (PCBP2), transcript variant 4, mRNA.	305	KH 3.				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	p.R306H(1)		central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						ATAATCGGGCGTCAAGGCGCC	0.498													5	37					0	0	1	0	0	A	53865444	G	A	53865444	3	1	186	1	0	0	0	0	1	0	0	0	11501	1145	40	1	967	1	PCBP2	12	53865444	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08		53865444	79986451	24	8073											
LRP1	4035	broad.mit.edu	37	chr12	57601869	57601869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgccatcgactgggtggccGgaaacgtgtactggaccgac	8	7	14	12	5	0	0	0	0	0	0	2	4	0	2	3	4	2	1	3	4	2	1			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr12:57601869G>A	uc001snd.3	+	76	12374	c.11908G>A	c.(11908-11910)Gga>Aga	p.G3970R		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3970					aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGGGTGGCCGGAAACGTGTA	0.577													22	32					0	0	1	0	0	A	57601869	G	A	57601869	3	1	186	1	0	0	0	0	1	0	0	0	8951	1117	39	2	12214	2	LRP1	12	57601869	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08	3736425	57601869	76250026	25	8074											
C12orf63	374467	broad.mit.edu	37	chr12	97136314	97136314	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggttgaggtgccgcttagCattggtgactgcatttgttg	5	15	15	6	1	0	2	0	2	0	0	0	2	0	2	1	3	3	5	1	3	1	5			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr12:97136314C>A	uc021rcc.1	+	18	2522	c.2444C>A	c.(2443-2445)gCa>gAa	p.A815E				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	815										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TGCCGCTTAGCATTGGTGACT	0.348													14	20					6.31663e-08	7.31399e-08	1	1	0	A	97136314	C	A	97136314	3	1	186	1	0	0	0	0	1	0	0	0	1706	710	25	5	2514	5	C12orf63	12	97136314	Missense_Mutation	SNP	C	TCGA-HT-7609-01A-11D-2086-08	39534445	97136314	36715581	26	8075											
ATP12A	479	broad.mit.edu	37	chr13	25275010	25275010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcaatgatcgatccccctCggtccaccgtgccagatgca	8	9	9	15	3	1	2	1	1	0	1	5	3	3	2	5	1	2	1	5	1	1	0			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr13:25275010C>T	uc010aaa.3	+	12	2182	c.1849C>T	c.(1849-1851)Cgg>Tgg	p.R617W	ATP12A_uc001upp.3_Missense_Mutation_p.R611W	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	611					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.D616E(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CGATCCCCCTCGGTCCACCGT	0.483													5	93					0	0	1	0	0	T	25275010	C	T	25275010	3	4	186	1	0	0	0	0	1	0	0	0	1122	875	31	2	1899	2	ATP12A	13	25275010	Missense_Mutation	SNP	C	TCGA-HT-7609-01A-11D-2086-08		25275010	89894868	27	8076											
ATG2B	55102	broad.mit.edu	37	chr14	96798962	96798962	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagactatgagacatgtccAtatcagccatggagaagaat	16	8	10	7	0	1	4	1	1	0	4	2	7	2	4	2	1	1	0	2	1	4	2			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr14:96798962A>G	uc001yfi.3	-	8	1603	c.1238T>C	c.(1237-1239)aTg>aCg	p.M413T		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	413										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AGACATGTCCATATCAGCCAT	0.378													7	63					0	0	1	0	0	G	96798962	A	G	96798962	3	3	186	1	0	0	0	0	1	0	0	0	1094	217	8	3	5134	3	ATG2B	14	96798962	Missense_Mutation	SNP	A	TCGA-HT-7609-01A-11D-2086-08		96798962	10550578	28	8077											
TTC23	64927	broad.mit.edu	37	chr15	99678265	99678265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccccagcagggtgtcctgagGgatgctggtgcagaaggcca	8	6	16	11	0	0	2	0	1	0	1	1	3	1	3	4	4	3	3	4	4	1	0			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr15:99678265G>A	uc002bur.3	-	12	1825	c.1294C>T	c.(1294-1296)Cct>Tct	p.P432S	TTC23_uc002bus.3_Missense_Mutation_p.P432S|TTC23_uc002but.3_Missense_Mutation_p.P432S|TTC23_uc002buu.3_Missense_Mutation_p.P432S|TTC23_uc002buv.3_Missense_Mutation_p.P432S|TTC23_uc002bux.3_Missense_Mutation_p.P432S|TTC23_uc002buw.3_Missense_Mutation_p.P432S|TTC23_uc010boq.3_Non-coding_Transcript|TTC23_uc002buy.3_Missense_Mutation_p.P432S|TTC23_uc010bor.3_Missense_Mutation_p.P432S	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	Homo sapiens tetratricopeptide repeat domain 23 (TTC23), transcript variant 2, mRNA.	432							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			GTGTCCTGAGGGATGCTGGTG	0.607													5	46					0	0	1	0	0	A	99678265	G	A	99678265	3	1	186	1	0	0	0	0	1	0	0	0	16687	1232	43	3	53	3	TTC23	15	99678265	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08		99678265	2853127	29	8078											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr17:7577120C>T	uc002gim.2	-	7	1012	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			12	11					0	0	1	0	0	T	7577120	C	T	7577120	3	4	186	1	0	0	0	0	1	0	0	0	16378	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-HT-7609-01A-11D-2086-08		7577120	73618090	30	8079											
TP53	7157	broad.mit.edu	37	chr17	7578176	7578176	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccccagttgcaaaccagaCctcaggcggctcatagggca	11	5	11	14	1	2	1	2	0	0	1	2	2	2	1	4	3	2	4	4	3	2	2			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr17:7578176C>T	uc002gim.2	-	6	866	c.672_splice	c.e6+1	p.E224_splice	TP53_uc002gig.1_Splice_Site_p.E224_splice|TP53_uc002gih.3_Splice_Site_p.E224_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Splice_Site_p.E92_splice|TP53_uc010cnf.1_Splice_Site_p.E92_splice|TP53_uc002gii.1_Splice_Site_p.E92_splice|TP53_uc010cni.1_Splice_Site_p.E224_splice|TP53_uc010cnh.1_Splice_Site_p.E224_splice|TP53_uc002gij.2_Splice_Site_p.E224_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Splice_Site_p.E131_splice|TP53_uc002gio.2_Splice_Site_p.E92_splice|TP53_uc010vug.2_Missense_Mutation_p.V186I|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	224	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)		GCAAACCAGACCTCAGGCGGC	0.527		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)			14	22					0	0	1	0	0	T	7578176	C	T	7578176	5	4	186	1	0	0	0	0	0	0	1	0	16378	521	18	3	621	3	TP53	17	7578176	Splice_Site	SNP	C	TCGA-HT-7609-01A-11D-2086-08	1056	7578176	73617034	31	8080											
KRT26	353288	broad.mit.edu	37	chr17	38926339	38926339	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcattcatctccacgttcacGttccccccagctgtatattg	7	13	6	15	2	3	0	2	0	1	0	5	0	4	0	4	0	1	5	4	0	2	6			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr17:38926339G>A	uc002hvf.3	-	3	763	c.717C>T	c.(715-717)aaC>aaT	p.N239N		NM_181539	NP_853517	Q7Z3Y9	K1C26_HUMAN	Homo sapiens keratin 26 (KRT26), mRNA.	239	Linker 12.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CCACGTTCACGTTCCCCCCAG	0.488													61	61					0	0	1	0	0	A	38926339	G	A	38926339	2	1	186	1	0	0	0	0	0	0	0	1	8463	1136	40	1		1	KRT26	17	38926339	Silent	SNP	G	TCGA-HT-7609-01A-11D-2086-08	31348163	38926339	42268871	32	8081											
POU2F2	5452	broad.mit.edu	37	chr19	42600387	42600387	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggtcgggcagcgtagggcgGgtcacggcctggtggggtgg	3	6	24	8	4	1	0	1	0	0	0	2	0	1	0	1	9	1	2	1	9	1	1			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr19:42600387G>A	uc002osp.3	-	7	572	c.510C>T	c.(508-510)acC>acT	p.T170T	POU2F2_uc002osn.3_Intron|POU2F2_uc002osq.3_Intron|POU2F2_uc002osr.2_Silent_p.T170T	NM_001207025	NP_001193954	P09086	PO2F2_HUMAN	Homo sapiens POU class 2 homeobox 2 (POU2F2), transcript variant 1, mRNA.	170					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				GCGTAGGGCGGGTCACGGCCT	0.711													3	11					0	0	1	0	0	A	42600387	G	A	42600387	2	1	186	1	0	0	0	0	0	0	0	1	12272	1247	43	3		3	POU2F2	19	42600387	Silent	SNP	G	TCGA-HT-7609-01A-11D-2086-08		42600387	16528596	33	8082											
MYH14	79784	broad.mit.edu	37	chr19	50720927	50720927	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtacaagcagcttcccatctAcacagaagccattgtggaga	13	8	9	11	0	1	2	0	0	1	2	2	3	2	2	2	1	5	3	2	1	4	4			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr19:50720927A>G	uc010enu.1	+	2	508	c.461A>G	c.(460-462)tAc>tGc	p.Y154C	MYH14_uc002prq.1_Missense_Mutation_p.Y154C|MYH14_uc002prr.1_Missense_Mutation_p.Y154C	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	154	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CTTCCCATCTACACAGAAGCC	0.607													53	73					0	0	1	0	0	G	50720927	A	G	50720927	3	3	186	1	0	0	0	0	1	0	0	0	10033	391	14	3	467	3	MYH14	19	50720927	Missense_Mutation	SNP	A	TCGA-HT-7609-01A-11D-2086-08	8120540	50720927	8408056	34	8083											
LILRB2	10288	broad.mit.edu	37	chr19	54782405	54782405	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgagatgaagggtgtgcCacggatctgtcctggagaga	10	8	15	8	1	1	3	0	2	1	2	2	7	2	5	2	3	1	0	2	3	1	0			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr19:54782405C>A	uc002qfb.3	-	6	1233	c.967G>T	c.(967-969)Ggc>Tgc	p.G323C	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.G323C|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.G323C|LILRB2_uc010yet.2_Missense_Mutation_p.G207C|LILRB2_uc010yeu.1_Non-coding_Transcript	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	323					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AAGGGTGTGCCACGGATCTGT	0.597													6	50					0.0215528	0.0225791	1	1	0	A	54782405	C	A	54782405	3	1	186	1	0	0	0	0	1	0	0	0	8791	594	21	5	861	5	LILRB2	19	54782405	Missense_Mutation	SNP	C	TCGA-HT-7609-01A-11D-2086-08	4061478	54782405	4346578	35	8084											
SH3BP1	23616	broad.mit.edu	37	chr22	38039752	38039754	+	In_Frame_Del	DEL	AGG	AGG	-																															caacaaggtggagacgctgaAggaggaggaggaggagctga																										TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr22:38039752_38039754delAGG	uc003ati.3	+	6	1313_1315	c.575_577delAGG	c.(574-579)aaggag>aag	p.E197del	SH3BP1_uc003atg.1_Non-coding_Transcript|SH3BP1_uc011anl.1_In_Frame_Del_p.E197del|SH3BP1_uc003ath.1_In_Frame_Del_p.E197del|SH3BP1_uc003atj.1_In_Frame_Del_p.E133del|SH3BP1_uc003atk.1_In_Frame_Del_p.E111del|AK097791_uc003atl.1_Non-coding_Transcript	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	Homo sapiens SH3-domain binding protein 1 (SH3BP1), mRNA.	197	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GAGACGCTGAAGGAGGAGGAGGA	0.606											OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	127	---	---	---	---						-	38039754	AGG	-	38039752	7	5	186	1	0	1	0	1	0	0	0	0	14244	72	3	0	601	0	SH3BP1	22	38039752	In_Frame_Del	DEL	AGG	TCGA-HT-7609-01A-11D-2086-08		38039752	13264814	36	8085											
EIF1AX	1964	broad.mit.edu	37	chrX	20156729	20156729	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttacccctgcgtctgttttTacctcctttacctgatggtt	4	18	6	13	1	1	1	0	1	1	0	2	1	2	1	5	1	4	2	5	1	3	7			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chrX:20156729T>C	uc004czt.3	-	1	236	c.28A>G	c.(28-30)Aaa>Gaa	p.K10E	SCARNA9L_uc010nfp.3_5'Flank	NM_001412	NP_001403	P47813	IF1AX_HUMAN	Homo sapiens eukaryotic translation initiation factor 1A, X-linked (EIF1AX), mRNA.	10						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CGTCTGTTTTTACCTCCTTTA	0.308													35	5					0	0	1	0	0	C	20156729	T	C	20156729	3	2	186	1	0	0	0	0	1	0	0	0	4992	1763	61	3	430	3	EIF1AX	23	20156729	Missense_Mutation	SNP	T	TCGA-HT-7609-01A-11D-2086-08		20156729	135113831	37	8086											
ITGB1BP2	26548	broad.mit.edu	37	chrX	70524875	70524875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcgggttgaaatctccctgGtcaaggctgacccaggatcc	8	9	11	13	1	2	2	1	2	1	0	5	3	3	3	3	4	0	2	3	4	2	1			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chrX:70524875G>A	uc004dzr.1	+	10	906	c.877G>A	c.(877-879)Gtc>Atc	p.V293I	BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_Missense_Mutation_p.V275I	NM_012278	NP_036410	Q9UKP3	ITBP2_HUMAN	Homo sapiens integrin beta 1 binding protein (melusin) 2 (ITGB1BP2), mRNA.	293	CS.				muscle organ development|signal transduction		SH3 domain binding			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					AATCTCCCTGGTCAAGGCTGA	0.517													17	19					0	0	1	0	0	A	70524875	G	A	70524875	3	1	186	1	0	0	0	0	1	0	0	0	7892	1261	44	3	919	3	ITGB1BP2	23	70524875	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08	50368146	70524875	84745685	38	8087											
PCDH19	57526	broad.mit.edu	37	chrX	99661766	99661766	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcaaagaagccgcggtcGccctcggtcatgtcgtaggt	8	10	12	11	5	2	1	2	0	0	1	5	1	2	1	2	3	1	1	2	3	3	2			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chrX:99661766G>A	uc010nmz.3	-	0	3506	c.1830C>T	c.(1828-1830)ggC>ggT	p.G610G	PCDH19_uc004efw.4_Silent_p.G610G|PCDH19_uc004efx.4_Silent_p.G610G	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	610	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E609K(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						AGCCGCGGTCGCCCTCGGTCA	0.562													3	33					0	0	1	0	0	A	99661766	G	A	99661766	2	1	186	1	0	0	0	0	0	0	0	1	11514	1074	38	1		1	PCDH19	23	99661766	Silent	SNP	G	TCGA-HT-7609-01A-11D-2086-08	29136891	99661766	55608794	39	8088											
ODZ1	10178	broad.mit.edu	37	chrX	123519791	123519791	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtagatgttccggtagtagcCcactgaaagcatggtttgta	10	12	12	7	1	0	2	0	1	0	1	1	2	1	2	2	2	2	7	2	2	5	6			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chrX:123519791C>A	uc010nqy.3	-	28	5876	c.5812G>T	c.(5812-5814)Ggc>Tgc	p.G1938C	ODZ1_uc011muj.2_Missense_Mutation_p.G1937C|ODZ1_uc004euj.3_Missense_Mutation_p.G1931C	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1931					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CGGTAGTAGCCCACTGAAAGC	0.512													4	54					0.00909568	0.00976122	1	1	0	A	123519791	C	A	123519791	3	1	186	1	0	0	0	0	1	0	0	0	10834	623	22	5	2402	5	ODZ1	23	123519791	Missense_Mutation	SNP	C	TCGA-HT-7609-01A-11D-2086-08	23858025	123519791	31750769	40	8089											
OCRL	4952	broad.mit.edu	37	chrX	128710473	128710473	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggcacatccttagaggctCtgtgccgtatgaaaagacca	11	10	10	10	1	1	3	0	1	1	2	2	3	2	3	3	2	1	3	3	2	4	3			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chrX:128710473C>G	uc004euq.3	+	17	2224	c.2059C>G	c.(2059-2061)Ctg>Gtg	p.L687V	OCRL_uc004eur.3_Missense_Mutation_p.L687V	NM_000276	NP_000267	Q01968	OCRL_HUMAN	Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.	687					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi stack|Golgi-associated vesicle|clathrin-coated vesicle|cytosol|early endosome	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CTTAGAGGCTCTGTGCCGTAT	0.403													41	7					0	0	1	0	0	G	128710473	C	G	128710473	3	3	186	1	0	0	0	0	1	0	0	0	10823	912	32	5	2129	5	OCRL	23	128710473	Missense_Mutation	SNP	C	TCGA-HT-7609-01A-11D-2086-08	5190682	128710473	26560087	41	8090											
GPC3	2719	broad.mit.edu	37	chrX	133119384	133119386	+	In_Frame_Del	DEL	CGG	CGG	-																															acttggtgacaggtggcgtcCggcggcggcggcgggggctg																										TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chrX:133119384_133119386delCGG	uc010nrn.2	-	0	288_290	c.91_93delCCG	c.(91-93)ccgdel	p.P31del	GPC3_uc004exe.2_In_Frame_Del_p.P31del|GPC3_uc011mvh.2_In_Frame_Del_p.P31del|GPC3_uc010nro.2_In_Frame_Del_p.P31del|GPC3_uc010nrp.2_5'UTR	NM_001164617	NP_001158089	P51654	GPC3_HUMAN	Homo sapiens glypican 3 (GPC3), transcript variant 1, mRNA.	31						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					AGGTGGCGTCCGGCGGCGGCGGC	0.69			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome				3	6	---	---	---	---						-	133119386	CGG	-	133119384	7	5	186	1	0	1	0	1	0	0	0	0	6599	639	23	0	1754	0	GPC3	23	133119384	In_Frame_Del	DEL	CGG	TCGA-HT-7609-01A-11D-2086-08	4408911	133119384	22151176	42	8091											
SAGE1	55511	broad.mit.edu	37	chrX	134988660	134988660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgactcttcgaccacggcGtattaatatgacagacactg	11	11	9	10	3	1	3	0	2	1	1	2	4	1	3	1	1	0	2	1	1	3	5			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chrX:134988660G>A	uc004ezh.3	+	6	853	c.686G>A	c.(685-687)cGt>cAt	p.R229H	SAGE1_uc010nry.1_Missense_Mutation_p.R198H|SAGE1_uc011mvv.2_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	229								p.R229C(2)|p.R228Q(1)		breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CGACCACGGCGTATTAATATG	0.423													5	129					0	0	1	0	0	A	134988660	G	A	134988660	3	1	186	1	0	0	0	0	1	0	0	0	13809	1145	40	1	708	1	SAGE1	23	134988660	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08	1869276	134988660	20281900	43	8092											
F5	2153	broad.mit.edu	37	chr1	169519050	169519050	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaatacctgtattccttGcctgtccagggatctgctct	9	13	7	12	0	2	0	0	0	2	0	4	1	4	1	4	1	3	2	4	1	4	4			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr1:169519050G>A	uc001ggg.1	-	9	1745	c.1600C>T	c.(1600-1602)Caa>Taa	p.Q534*	F5_uc010plr.1_Non-coding_Transcript	NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	534	F5/8 type A 2.	Cleavage; by activated protein C.	R -> Q (in Leiden; associated with THR- APCR; associated with susceptibility to Budd-Chiari syndrome; associated with susceptibility to ischemic stroke; dbSNP:rs6025).		cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGTATTCCTTGCCTGTCCAGG	0.428													4	35					0	0	1	0	0	A	169519050	G	A	169519050	4	1	187	1	0	0	0	0	0	1	0	0	5348	1328	46	3	5138	3	F5	1	169519050	Nonsense_Mutation	SNP	G	TCGA-HT-7610-01A-21D-2086-08		169519050	79731571	1	8093											
LAMC1	3915	broad.mit.edu	37	chr1	183087214	183087214	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggaggcctgctcttaccccTtttgaatttcagaagctcct	7	14	8	12	0	2	2	1	1	1	1	3	3	3	3	4	2	3	2	4	2	3	4			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr1:183087214T>C	uc001gpy.4	+	10	2180	c.1923T>C	c.(1921-1923)ccT>ccC	p.P641P		NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	641	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.P641P(2)|p.P641L(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCTTACCCCTTTTGAATTTC	0.418													3	53					0	0	1	0	0	C	183087214	T	C	183087214	2	2	187	1	0	0	0	0	0	0	0	1	8614	1596	56	4		4	LAMC1	1	183087214	Silent	SNP	T	TCGA-HT-7610-01A-21D-2086-08	13568164	183087214	66163407	2	8094											
ABCG5	64240	broad.mit.edu	37	chr2	44047075	44047075	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaggaatccagatccaacaAgcacccccgcaatggacagc	14	4	9	14	1	0	2	0	1	0	1	2	4	2	4	4	2	3	2	4	2	4	0			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr2:44047075A>G	uc002rtn.3	-	10	1768	c.1628T>C	c.(1627-1629)cTt>cCt	p.L543P	ABCG5_uc002rtm.3_Missense_Mutation_p.L148P|ABCG5_uc002rto.3_Missense_Mutation_p.L372P|ABCG5_uc002rtp.3_Missense_Mutation_p.L148P	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA.	543	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGATCCAACAAGCACCCCCGC	0.368													18	89					0	0	1	0	0	G	44047075	A	G	44047075	3	3	187	1	0	0	0	0	1	0	0	0	71	72	3	4	339	4	ABCG5	2	44047075	Missense_Mutation	SNP	A	TCGA-HT-7610-01A-21D-2086-08		44047075	199152298	3	8095											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								25	60					0	0	1	0	0	T	209113112	C	T	209113112	3	4	187	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7610-01A-21D-2086-08	165066037	209113112	34086261	4	8096											
CPS1	1373	broad.mit.edu	37	chr2	211454894	211454894	+	Frame_Shift_Del	DEL	T	T	-																															caagatggagtatgatgggaTtttgatcgcgggaggaccgg																										TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr2:211454894delT	uc010fur.3	+	8	876	c.794delT	c.(793-795)attfs	p.I265fs	CPS1_uc002vee.4_Frame_Shift_Del_p.I259fs	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	259	Glutamine amidotransferase type-1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.P265Q(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TATGATGGGATTTTGATCGCG	0.448													15	361	---	---	---	---						-	211454894	T	-	211454894	7	5	187	1	0	1	0	1	0	0	0	0	3823	1493	52	0	828	0	CPS1	2	211454894	Frame_Shift_Del	DEL	T	TCGA-HT-7610-01A-21D-2086-08	2341782	211454894	31744479	5	8097											
TRIP12	9320	broad.mit.edu	37	chr2	230668911	230668911	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctttcataagctgtgctcGagcatcatccttctttgact	7	16	6	12	1	4	1	2	1	2	0	6	2	5	1	1	0	3	3	1	0	1	4			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr2:230668911G>A	uc002vpx.1	-	18	2711	c.2602C>T	c.(2602-2604)Cga>Tga	p.R868*	TRIP12_uc021vxw.1_Nonsense_Mutation_p.R853*|TRIP12_uc002vpy.1_Nonsense_Mutation_p.R550*|TRIP12_uc002vpw.1_Nonsense_Mutation_p.R820*|TRIP12_uc010zlz.1_Intron	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	820					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)		AGCTGTGCTCGAGCATCATCC	0.363													28	51					0	0	1	0	0	A	230668911	G	A	230668911	4	1	187	1	0	0	0	0	0	1	0	0	16553	1066	37	2	3616	2	TRIP12	2	230668911	Nonsense_Mutation	SNP	G	TCGA-HT-7610-01A-21D-2086-08	19214017	230668911	12530462	6	8098											
ASTE1	28990	broad.mit.edu	37	chr3	130732931	130732931	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaggcctcactatgttcCtctaagttttcaaccattaa	10	15	6	10	0	3	0	2	0	1	0	4	1	4	1	3	2	1	2	3	2	4	7			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr3:130732931C>T	uc010htm.1	-	6	2292	c.2085G>A	c.(2083-2085)gaG>gaA	p.E695E	ATP2C1_uc011blh.2_Intron|ATP2C1_uc011bli.2_Intron|ATP2C1_uc003enm.3_Intron|ATP2C1_uc003enn.3_Intron|ATP2C1_uc003enp.3_Intron|ATP2C1_uc003ent.3_Intron|ATP2C1_uc003ens.3_Intron|ASTE1_uc003env.1_Silent_p.E670E|ASTE1_uc011blj.1_Non-coding_Transcript	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	Homo sapiens asteroid homolog 1 (Drosophila) (ASTE1), mRNA.	670					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						CACTATGTTCCTCTAAGTTTT	0.393													12	57					0	0	1	0	0	T	130732931	C	T	130732931	2	4	187	1	0	0	0	0	0	0	0	1	1062	680	24	3		3	ASTE1	3	130732931	Silent	SNP	C	TCGA-HT-7610-01A-21D-2086-08		130732931	67289499	7	8099											
LPHN3	23284	broad.mit.edu	37	chr4	62813869	62813869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattttggagctactccaagCgtacaatgacaggttattgg	11	12	10	8	1	0	1	0	1	0	0	1	2	1	2	1	3	4	3	1	3	5	6			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr4:62813869C>T	uc010ihh.3	+	13	2649	c.2476C>T	c.(2476-2478)Cgt>Tgt	p.R826C	LPHN3_uc003hcq.4_Missense_Mutation_p.R826C|LPHN3_uc003hct.3_Missense_Mutation_p.R219C	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	813	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	p.R826H(1)		breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTACTCCAAGCGTACAATGAC	0.388													5	20					0	0	1	0	0	T	62813869	C	T	62813869	3	4	187	1	0	0	0	0	1	0	0	0	8917	768	27	1	2530	1	LPHN3	4	62813869	Missense_Mutation	SNP	C	TCGA-HT-7610-01A-21D-2086-08		62813869	128340407	8	8100											
KCNU1	157855	broad.mit.edu	37	chr8	36721928	36721928	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatcctattgcagtgccatCggtaaagagaatgaaaaaat	16	10	8	7	1	0	2	0	1	0	1	2	3	1	2	2	1	2	2	2	1	8	4			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr8:36721928C>A	uc010lvw.3	+	18	1985	c.1898C>A	c.(1897-1899)tCg>tAg	p.S633*	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	633						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GCAGTGCCATCGGTAAAGAGA	0.448													4	68					0.00909568	0.00947467	1	1	0	A	36721928	C	A	36721928	4	1	187	1	0	0	0	0	0	1	0	0	8093	893	31	5	1972	5	KCNU1	8	36721928	Nonsense_Mutation	SNP	C	TCGA-HT-7610-01A-21D-2086-08		36721928	109642094	9	8101											
GPR124	25960	broad.mit.edu	37	chr8	37698691	37698691	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctggatctatttcctgtgCgccgggctacgcttacgggg	5	11	13	12	4	1	0	0	0	1	0	2	1	2	1	3	4	3	2	3	4	3	4			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr8:37698691C>T	uc003xkj.3	+	18	3221	c.2835C>T	c.(2833-2835)tgC>tgT	p.C945C	GPR124_uc010lvy.3_Silent_p.C728C	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.	945					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			ATTTCCTGTGCGCCGGGCTAC	0.627													10	84					0	0	1	0	0	T	37698691	C	T	37698691	2	4	187	1	0	0	0	0	0	0	0	1	6638	776	27	1		1	GPR124	8	37698691	Silent	SNP	C	TCGA-HT-7610-01A-21D-2086-08	976763	37698691	108665331	10	8102											
PAPOLA	10914	broad.mit.edu	37	chr14	97031339	97031339	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccctgctctccctgcaaaTcctattcctgttatcaagaa	10	13	4	14	0	2	1	1	0	1	1	6	1	5	1	4	0	2	3	4	0	5	3			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr14:97031339T>G	uc001yfq.3	+	21	2407	c.2190T>G	c.(2188-2190)aaT>aaG	p.N730K	PAPOLA_uc001yfr.3_Missense_Mutation_p.N729K|PAPOLA_uc010twv.2_Missense_Mutation_p.N709K|PAPOLA_uc010avp.3_Missense_Mutation_p.N480K	NM_032632	NP_116021	P51003	PAPOA_HUMAN	Homo sapiens poly(A) polymerase alpha (PAPOLA), transcript variant 1, mRNA.	730	Required for interaction with NUDT21.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|RNA binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TCCCTGCAAATCCTATTCCTG	0.373													28	60					0	0	1	0	0	G	97031339	T	G	97031339	3	3	187	1	0	0	0	0	1	0	0	0	11429	1432	50	5	2276	5	PAPOLA	14	97031339	Missense_Mutation	SNP	T	TCGA-HT-7610-01A-21D-2086-08		97031339	10318201	11	8103											
SLC12A1	6557	broad.mit.edu	37	chr15	48580649	48580649	+	Frame_Shift_Del	DEL	A	A	-																															taactctcagaaaaaaatggAaagactgtaaattaagaatc																										TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr15:48580649delA	uc001zwn.4	+	22	3025	c.2809delA	c.(2809-2811)aaafs	p.K937fs	SLC12A1_uc010bem.3_Frame_Shift_Del_p.K937fs|SLC12A1_uc001zwq.4_Frame_Shift_Del_p.K708fs|SLC12A1_uc001zwr.4_Frame_Shift_Del_p.K664fs	NM_000338	NP_000329	Q13621	S12A1_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	937					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	AAAAAAATGGAAAGACTGTAA	0.328													2	4	---	---	---	---						-	48580649	A	-	48580649	7	5	187	1	0	1	0	1	0	0	0	0	14382	247	9	0	2995	0	SLC12A1	15	48580649	Frame_Shift_Del	DEL	A	TCGA-HT-7610-01A-21D-2086-08		48580649	53950743	12	8104											
HBZ	3050	broad.mit.edu	37	chr16	202926	202926	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgtctctgaccaagacTgagaggaccatcattgtgtc	10	10	10	11	0	2	3	1	2	1	2	4	5	2	4	3	1	0	0	3	1	1	1			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr16:202926T>C	uc002cft.1	+	0	73	c.18T>C	c.(16-18)acT>acC	p.T6T		NM_005332	NP_005323	P02008	HBAZ_HUMAN	Homo sapiens hemoglobin, zeta (HBZ), mRNA.	6						hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity						all_cancers(16;4.28e-07)|all_epithelial(16;2.09e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				TGACCAAGACTGAGAGGACCA	0.612											OREG0003684	type=REGULATORY REGION|Gene=HBZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	20	39					0	0	1	0	0	C	202926	T	C	202926	2	2	187	1	0	0	0	0	0	0	0	1	6989	1567	55	4		4	HBZ	16	202926	Silent	SNP	T	TCGA-HT-7610-01A-21D-2086-08		202926	90151827	13	8105											
SENP3	26168	broad.mit.edu	37	chr17	7474041	7474041	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggcggtaaagaaagacCgactggatttccaccagggc	13	5	13	10	2	0	3	0	0	0	3	1	5	1	4	3	4	0	1	3	4	3	2			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr17:7474041C>T	uc002ghm.3	+	9	1805	c.1522C>T	c.(1522-1524)Cga>Tga	p.R508*	EIF4A1_uc002gho.2_5'UTR|EIF4A1_uc002ghr.1_5'Flank	NM_015670	NP_056485	Q9H4L4	SENP3_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 3 (SENP3), mRNA.	508	Protease.				proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				AAAGAAAGACCGACTGGATTT	0.473													6	17					0	0	1	0	0	T	7474041	C	T	7474041	4	4	187	1	0	0	0	0	0	1	0	0	14048	644	23	2	1553	2	SENP3	17	7474041	Nonsense_Mutation	SNP	C	TCGA-HT-7610-01A-21D-2086-08		7474041	73721169	14	8106											
TP53	7157	broad.mit.edu	37	chr17	7577593	7577593	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtagttgtagtggatggtggTacagtcagagccaacctagg	10	10	15	6	0	1	1	1	0	0	1	1	2	1	2	2	4	3	4	2	4	5	5			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr17:7577593T>G	uc002gim.2	-	6	882	c.688A>C	c.(688-690)Acc>Ccc	p.T230P	TP53_uc002gig.1_Missense_Mutation_p.T230P|TP53_uc002gih.3_Missense_Mutation_p.T230P|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.T98P|TP53_uc010cnf.1_Missense_Mutation_p.T98P|TP53_uc002gii.1_Missense_Mutation_p.T98P|TP53_uc010cni.1_Missense_Mutation_p.T230P|TP53_uc010cnh.1_Missense_Mutation_p.T230P|TP53_uc002gij.2_Missense_Mutation_p.T230P|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.T137P|TP53_uc002gio.2_Missense_Mutation_p.T98P|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	230	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> N (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C229fs*10(13)|p.T230I(9)|p.0?(8)|p.?(5)|p.T230fs*6(4)|p.C229_H233delCTTIH(4)|p.T230S(4)|p.T230P(4)|p.T230fs*17(4)|p.C229*(3)|p.T230fs*9(2)|p.C229_T230insX(2)|p.C229_I232del(2)|p.S227_I232delSDCTTI(2)|p.T230_Y234delTTIHY(2)|p.C229fs*1(2)|p.T230A(2)|p.C229S(2)|p.C229R(2)|p.C229Y(2)|p.T230N(2)|p.C229fs*18(1)|p.V225fs*23(1)|p.C229del(1)|p.D228fs*12(1)|p.T230T(1)|p.C229C(1)|p.C229G(1)|p.C229F(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)		TGGATGGTGGTACAGTCAGAG	0.532		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)			17	47					0	0	1	0	0	G	7577593	T	G	7577593	3	3	187	1	0	0	0	0	1	0	0	0	16378	1638	57	5	602	5	TP53	17	7577593	Missense_Mutation	SNP	T	TCGA-HT-7610-01A-21D-2086-08	103552	7577593	73617617	15	8107											
TP53	7157	broad.mit.edu	37	chr17	7578507	7578507	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcaacccacagctgcacaggGcaggtcttggccagttggca	9	7	12	13	0	2	0	1	0	1	0	2	0	2	0	2	4	3	5	2	4	1	2			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr17:7578507G>C	uc002gim.2	-	4	617	c.423C>G	c.(421-423)tgC>tgG	p.C141W	TP53_uc002gig.1_Missense_Mutation_p.C141W|TP53_uc002gih.3_Missense_Mutation_p.C141W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C9W|TP53_uc010cnf.1_Missense_Mutation_p.C9W|TP53_uc002gii.1_Missense_Mutation_p.C9W|TP53_uc010cni.1_Missense_Mutation_p.C141W|TP53_uc010cnh.1_Missense_Mutation_p.C141W|TP53_uc002gij.2_Missense_Mutation_p.C141W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C48W|TP53_uc002gio.2_Missense_Mutation_p.C9W|TP53_uc010vug.2_Missense_Mutation_p.C102W	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	141	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.C141Y(70)|p.C141W(24)|p.C141*(23)|p.T140I(12)|p.C141R(12)|p.C141C(8)|p.0?(8)|p.T140T(6)|p.A138_P142delAKTCP(6)|p.C141F(4)|p.C141S(3)|p.C141fs*29(3)|p.L137_W146del10(2)|p.A138_V143delAKTCPV(2)|p.N131fs*27(2)|p.C141A(2)|p.C141G(2)|p.C141_P142insXX(2)|p.T140fs*28(2)|p.C141fs*8(2)|p.C141fs*5(2)|p.K139fs*4(1)|p.F134_T140>S(1)|p.A45_P49delAKTCP(1)|p.T140fs*9(1)|p.K139_T140delKT(1)|p.C141fs*34(1)|p.C141fs*30(1)|p.C9W(1)|p.A6_P10delAKTCP(1)|p.T140N(1)|p.C48W(1)|p.K139_C141>N(1)|p.C135_T140delCQLAKT(1)|p.T140fs*30(1)|p.P142del(1)|p.P142fs*7(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)		GCTGCACAGGGCAGGTCTTGG	0.577		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)			24	26					0	0	1	0	0	C	7578507	G	C	7578507	3	2	187	1	0	0	0	0	1	0	0	0	16378	1195	42	5	875	5	TP53	17	7578507	Missense_Mutation	SNP	G	TCGA-HT-7610-01A-21D-2086-08	914	7578507	73616703	16	8108											
KRT27	342574	broad.mit.edu	37	chr17	38936093	38936093	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcacgttgcctccagccgcGcactgaagagctttcatttc	7	12	8	14	3	2	2	2	1	0	1	4	2	3	2	3	0	3	3	3	0	1	4			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr17:38936093G>A	uc002hvg.3	-	3	746	c.705C>T	c.(703-705)tgC>tgT	p.C235C		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	Homo sapiens keratin 27 (KRT27), mRNA.	235	Linker 12.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CTCCAGCCGCGCACTGAAGAG	0.483													10	35					0	0	1	0	0	A	38936093	G	A	38936093	2	1	187	1	0	0	0	0	0	0	0	1	8464	1079	38	1		1	KRT27	17	38936093	Silent	SNP	G	TCGA-HT-7610-01A-21D-2086-08	31357586	38936093	42259117	17	8109											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	6	9	9	17	2	2	0	0	0	2	0	6	2	4	2	5	2	2	0	5	2	2	1	rs145580328	byFrequency	TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chrX:37028425A>G	uc004ddl.2	+	0	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	648								p.N648D(11)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													6	98					0	0	1	0	0	G	37028425	A	G	37028425	3	3	187	1	0	0	0	0	1	0	0	0	5571	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-HT-7610-01A-21D-2086-08		37028425	118242135	18	8110											
BCOR	54880	broad.mit.edu	37	chrX	39931690	39931690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcggtcacccacgtaacccGctgagttggcgattctcttt	7	12	9	13	4	2	1	1	1	1	0	4	2	2	1	2	2	1	3	2	2	1	4			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chrX:39931690G>A	uc004den.4	-	3	3201	c.2909C>T	c.(2908-2910)gCg>gTg	p.A970V	BCOR_uc004dep.4_Missense_Mutation_p.A970V|BCOR_uc004deo.4_Missense_Mutation_p.A970V|BCOR_uc004dem.4_Missense_Mutation_p.A970V|BCOR_uc004deq.4_Missense_Mutation_p.A970V	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	970					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						CACGTAACCCGCTGAGTTGGC	0.527			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						4	24					0	0	1	0	0	A	39931690	G	A	39931690	3	1	187	1	0	0	0	0	1	0	0	0	1386	1087	38	1	2406	1	BCOR	23	39931690	Missense_Mutation	SNP	G	TCGA-HT-7610-01A-21D-2086-08	2903265	39931690	115338870	19	8111											
ATRX	546	broad.mit.edu	37	chrX	76890083	76890083	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcatattcttcagctcttAcctgtaaagtcttaccaagg	10	15	5	11	0	5	0	2	0	3	0	5	0	5	0	2	1	3	2	2	1	6	7			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chrX:76890083A>C	uc004ecp.4	-	17	5041	c.4809_splice	c.e17+1	p.Q1603_splice	ATRX_uc004ecq.4_Splice_Site_p.Q1565_splice|ATRX_uc004eco.4_Splice_Site_p.Q1388_splice	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1603	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTCAGCTCTTACCTGTAAAGT	0.398			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						31	65					0	0	1	0	0	C	76890083	A	C	76890083	5	2	187	1	0	0	0	0	0	0	1	0	1208	405	14	5	2743	5	ATRX	23	76890083	Splice_Site	SNP	A	TCGA-HT-7610-01A-21D-2086-08	36958393	76890083	78380477	20	8112											
STAG2	10735	broad.mit.edu	37	chrX	123196967	123196967	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatctttatatttcacagtActctgtagatgcagaaaagg	13	14	8	6	0	3	3	1	1	2	2	3	3	3	3	0	1	2	3	0	1	6	6			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chrX:123196967A>T	uc004eua.3	+	19	2136	c.1732_splice	c.e19-1	p.Y578_splice	STAG2_uc004etz.4_Splice_Site_p.Y578_splice|STAG2_uc004eub.3_Splice_Site_p.Y578_splice|STAG2_uc004euc.3_Splice_Site_p.Y578_splice|STAG2_uc004eud.3_Splice_Site_p.Y578_splice|STAG2_uc004eue.3_Splice_Site_p.Y578_splice	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	578					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						ATTTCACAGTACTCTGTAGAT	0.313													8	19					0	0	1	0	0	T	123196967	A	T	123196967	5	4	187	1	0	0	0	0	0	0	1	0	15242	405	14	5	1799	5	STAG2	23	123196967	Splice_Site	SNP	A	TCGA-HT-7610-01A-21D-2086-08	46306884	123196967	32073593	21	8113											
ATAD3C	219293	broad.mit.edu	37	chr1	1396282	1396282	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgagtatgttcttaagccggCcacagaaggaaagcggtaag	13	7	13	8	3	1	1	0	0	1	1	1	3	1	2	2	3	2	3	2	3	5	4			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr1:1396282C>A	uc001aft.2	+	9	1960	c.965C>A	c.(964-966)gCc>gAc	p.A322D		NM_001039211	NP_001034300	Q5T2N8	ATD3C_HUMAN	Homo sapiens ATPase family, AAA domain containing 3C (ATAD3C), mRNA.	322							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTTAAGCCGGCCACAGAAGGA	0.627													7	36					0.0293803	0.0293803	1	1	0	A	1396282	C	A	1396282	3	1	188	1	0	0	0	0	1	0	0	0	1075	739	26	5	1003	5	ATAD3C	1	1396282	Missense_Mutation	SNP	C	TCGA-HT-7611-01A-11D-2395-08		1396282	247854339	1	8114											
ARID1A	8289	broad.mit.edu	37	chr1	27056286	27056286	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catacgggtcccagaccccgCagcggtacccgatgaccatg	9	5	11	16	4	0	2	0	1	0	1	1	3	1	2	5	2	3	2	5	2	2	2			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr1:27056286C>T	uc001bmv.1	+	1	1655	c.1282C>T	c.(1282-1284)Cag>Tag	p.Q428*	ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q428*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q428*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q45*	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	428					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCAGACCCCGCAGCGGTACCC	0.607			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								11	81					0	0	1	0	0	T	27056286	C	T	27056286	4	4	188	1	0	0	0	0	0	1	0	0	913	711	25	3	1288	3	ARID1A	1	27056286	Nonsense_Mutation	SNP	C	TCGA-HT-7611-01A-11D-2395-08	25660004	27056286	222194335	2	8115											
RNF19B	127544	broad.mit.edu	37	chr1	33402666	33402666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaggtttgctggccaggCagtctttctgttcacagctt	6	13	10	12	0	3	0	1	0	2	0	3	0	3	0	2	3	2	5	2	3	1	4			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr1:33402666C>T	uc010oho.2	-	8	1940	c.1940G>A	c.(1939-1941)tGc>tAc	p.C647Y	RNF19B_uc001bwm.4_3'UTR|RNF19B_uc010ohp.2_Missense_Mutation_p.C646Y	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	Homo sapiens ring finger protein 19B (RNF19B), transcript variant 1, mRNA.	647						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCTGGCCAGGCAGTCTTTCTG	0.547													58	81					0	0	1	0	0	T	33402666	C	T	33402666	3	4	188	1	0	0	0	0	1	0	0	0	13471	710	25	3	262	3	RNF19B	1	33402666	Missense_Mutation	SNP	C	TCGA-HT-7611-01A-11D-2395-08	6346380	33402666	215847955	3	8116											
LCE3C	353144	broad.mit.edu	37	chr1	152573380	152573380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcctgagccaccacaGgcacttcaggtcccatcaat	9	8	8	16	0	2	1	2	1	0	0	3	1	3	1	4	2	3	2	4	2	1	1			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr1:152573380G>A	uc001fac.2	+	0	243	c.173G>A	c.(172-174)aGg>aAg	p.R58K		NM_178434	NP_848521	Q5T5A8	LCE3C_HUMAN	Homo sapiens late cornified envelope 3C (LCE3C), mRNA.	58					keratinization					lung(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		AGCCACCACAGGCACTTCAGG	0.642													73	9					0	0	1	0	0	A	152573380	G	A	152573380	3	1	188	1	0	0	0	0	1	0	0	0	8671	1000	35	3	175	3	LCE3C	1	152573380	Missense_Mutation	SNP	G	TCGA-HT-7611-01A-11D-2395-08	119170714	152573380	96677241	4	8117											
SNAPIN	23557	broad.mit.edu	37	chr1	153633756	153633756	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggattcgggaatttacccCcctggctccccaggcaaata	9	9	9	14	1	0	0	0	0	0	0	2	2	1	2	5	4	1	2	5	4	4	4			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr1:153633756C>T	uc001fcq.3	+	3	465	c.390C>T	c.(388-390)ccC>ccT	p.P130P		NM_012437	NP_036569	O95295	SNAPN_HUMAN	Homo sapiens SNAP-associated protein (SNAPIN), mRNA.	130					intracellular protein transport|synaptic vesicle exocytosis	BLOC-1 complex|cell junction|perinuclear region of cytoplasm|synaptic vesicle membrane|synaptosome	SNARE binding			lung(3)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAATTTACCCCCCTGGCTCCC	0.507													8	38					0	0	1	0	0	T	153633756	C	T	153633756	2	4	188	1	0	0	0	0	0	0	0	1	14839	610	22	3		3	SNAPIN	1	153633756	Silent	SNP	C	TCGA-HT-7611-01A-11D-2395-08	1060376	153633756	95616865	5	8118											
SPTBN1	6711	broad.mit.edu	37	chr2	54853094	54853094	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttgggtttgaccttcctgCagttgaggccgccacaaaaa	9	11	10	11	1	0	2	0	2	0	0	1	2	1	2	4	2	1	3	4	2	2	4			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr2:54853094C>T	uc002rxu.3	+	11	1616	c.1367C>T	c.(1366-1368)gCa>gTa	p.A456V	SPTBN1_uc002rxv.1_Missense_Mutation_p.A456V|SPTBN1_uc002rxx.3_Missense_Mutation_p.A443V	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	456					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GACCTTCCTGCAGTTGAGGCC	0.522													11	35					0	0	1	0	0	T	54853094	C	T	54853094	3	4	188	1	0	0	0	0	1	0	0	0	15118	710	25	3	1522	3	SPTBN1	2	54853094	Missense_Mutation	SNP	C	TCGA-HT-7611-01A-11D-2395-08		54853094	188346279	6	8119											
TTN	7273	broad.mit.edu	37	chr2	179417788	179417788	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagcaaagtgactgtgcctcGagaaacatgtttaacctgta	13	10	10	8	1	0	2	0	1	0	1	1	4	0	2	2	0	4	3	2	0	4	3			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr2:179417788G>A	uc021vsy.1	-	283	82360	c.82135C>T	c.(82135-82137)Cga>Tga	p.R27379*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.R21074*|TTN_uc021vta.1_Nonsense_Mutation_p.R21007*|TTN_uc021vtb.1_Nonsense_Mutation_p.R20882*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28306	Fibronectin type-III 99.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGTGCCTCGAGAAACATGT	0.423													8	43					0	0	1	0	0	A	179417788	G	A	179417788	4	1	188	1	0	0	0	0	0	1	0	0	16732	1066	37	2	18252	2	TTN	2	179417788	Nonsense_Mutation	SNP	G	TCGA-HT-7611-01A-11D-2395-08	124564694	179417788	63781585	7	8120											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr2:209113113G>C	uc002vcs.3	-	3	640	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_uc002vct.3_Missense_Mutation_p.R132G|IDH1_uc002vcu.3_Missense_Mutation_p.R132G	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								24	52					0	0	1	0	0	C	209113113	G	C	209113113	3	2	188	1	0	0	0	0	1	0	0	0	7494	1058	37	5	878	5	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-7611-01A-11D-2395-08	29695325	209113113	34086260	8	8121											
AGAP1	116987	broad.mit.edu	37	chr2	236626276	236626276	+	Nonsense_Mutation	SNP	G	G	T																															cgggcacatatgtccaggagGagtctccggaaggtatgctg																										TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr2:236626276G>T	uc002vvs.3	+	2	896	c.298G>T	c.(298-300)Gag>Tag	p.E100*	AGAP1_uc002vvt.3_Nonsense_Mutation_p.E100*|AGAP1_uc021vyp.1_Nonsense_Mutation_p.E100*	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	100	Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGTCCAGGAGGAGTCTCCGGA	0.448													16	55					2.23348e-06	2.47625e-06	1	1	0	T	236626276	G	T	236626276	4	4	188	1	0	0	0	0	0	1	0	0	366	1175	41	5	308	5	AGAP1	2	236626276	Nonsense_Mutation	SNP	G	TCGA-HT-7611-01A-11D-2395-08	27513163	236626276	6573097	9	8122	32	2									
AGAP1	116987	broad.mit.edu	37	chr2	236626277	236626277	+	Missense_Mutation	SNP	A	A	C																															gggcacatatgtccaggaggAgtctccggaaggtatgctgt																										TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr2:236626277A>C	uc002vvs.3	+	2	897	c.299A>C	c.(298-300)gAg>gCg	p.E100A	AGAP1_uc002vvt.3_Missense_Mutation_p.E100A|AGAP1_uc021vyp.1_Missense_Mutation_p.E100A	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	100	Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GTCCAGGAGGAGTCTCCGGAA	0.448													16	55					0	0	1	0	0	C	236626277	A	C	236626277	3	2	188	1	0	0	0	0	1	0	0	0	366	304	11	5	309	5	AGAP1	2	236626277	Missense_Mutation	SNP	A	TCGA-HT-7611-01A-11D-2395-08	1	236626277	6573096	10	8123	32	2									
PLEKHG4B	153478	broad.mit.edu	37	chr5	161918	161918	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatcctgccagaaaggactAcagctggcgaaggagaaccc	14	4	11	12	1	0	2	0	0	0	2	1	5	1	3	3	3	4	1	3	3	5	1			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr5:161918A>G	uc003jak.2	+	9	1490	c.1440A>G	c.(1438-1440)ctA>ctG	p.L480L		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	480					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGAAAGGACTACAGCTGGCGA	0.582													11	41					0	0	1	0	0	G	161918	A	G	161918	2	3	188	1	0	0	0	0	0	0	0	1	12072	378	14	3		3	PLEKHG4B	5	161918	Silent	SNP	A	TCGA-HT-7611-01A-11D-2395-08		161918	180753342	11	8124											
HAPLN1	1404	broad.mit.edu	37	chr5	82937364	82937364	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catacagcttatgctttttaTctgggaaacccacgaagcgc	11	11	8	11	2	1	0	0	0	1	0	1	2	1	1	1	1	5	2	1	1	5	5			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr5:82937364T>A	uc003kim.3	-	3	1087	c.1016A>T	c.(1015-1017)gAt>gTt	p.D339V	HAPLN1_uc003kin.3_Missense_Mutation_p.D339V	NM_001884	NP_001875	P10915	HPLN1_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA.	339	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	p.D339Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		ATGCTTTTTATCTGGGAAACC	0.517													10	170					0	0	1	0	0	A	82937364	T	A	82937364	3	1	188	1	0	0	0	0	1	0	0	0	6954	1435	50	5	52	5	HAPLN1	5	82937364	Missense_Mutation	SNP	T	TCGA-HT-7611-01A-11D-2395-08	82775446	82937364	97977896	12	8125											
KIAA0319	9856	broad.mit.edu	37	chr6	24566850	24566850	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggactctggccatccCggatccacagataggacaca	10	7	10	14	1	1	1	0	0	1	1	3	4	3	4	3	4	1	1	3	4	1	1			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr6:24566850C>A	uc011djo.2	-	13	2767	c.2267G>T	c.(2266-2268)cGg>cTg	p.R756L	KIAA0319_uc011djp.2_Missense_Mutation_p.R711L|KIAA0319_uc003neh.1_Missense_Mutation_p.R756L|KIAA0319_uc011djq.1_Missense_Mutation_p.R747L|KIAA0319_uc011djr.1_Missense_Mutation_p.R756L|KIAA0319_uc010jpt.1_Missense_Mutation_p.R167L	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	756	PKD 5.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	p.I755I(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTGGCCATCCCGGATCCACAG	0.463													39	58					2.19358e-23	2.48606e-23	1	1	0	A	24566850	C	A	24566850	3	1	188	1	0	0	0	0	1	0	0	0	8168	652	23	5	983	5	KIAA0319	6	24566850	Missense_Mutation	SNP	C	TCGA-HT-7611-01A-11D-2395-08		24566850	146548217	13	8126											
HIST1H4C	8364	broad.mit.edu	37	chr6	26104327	26104327	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcgcatttccggtcttaTctatgaggagactcgaggtg	9	11	12	9	3	2	2	0	1	2	1	4	4	3	2	1	3	1	1	1	3	3	3			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr6:26104327T>C	uc003ngi.3	+	0	152	c.152T>C	c.(151-153)aTc>aCc	p.I51T		NM_003542	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4c (HIST1H4C), mRNA.	51					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						TCCGGTCTTATCTATGAGGAG	0.542													10	50					0	0	1	0	0	C	26104327	T	C	26104327	3	2	188	1	0	0	0	0	1	0	0	0	7167	1435	50	3	154	3	HIST1H4C	6	26104327	Missense_Mutation	SNP	T	TCGA-HT-7611-01A-11D-2395-08	1537477	26104327	145010740	14	8127											
STAG3L2	442582	broad.mit.edu	37	chr7	74298939	74298939	+	RNA	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactccaagtttcccccacGccatgccaccgttcctgcct	7	9	5	20	2	0	0	0	0	0	0	3	0	3	0	8	0	3	2	8	0	2	2	rs142156061	by1000genomes	TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr7:74298939G>C	uc011kfj.2	-	7		c.1037C>G						P0CL84	ST3L2_HUMAN	Homo sapiens stromal antigen 3-like 2 (STAG3L2), non-coding RNA.							nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						TTTCCCCCACGCCATGCCACC	0.537													2	14					0	0	1	0	0	C	74298939	G	C	74298939	1	2	188	0	1	0	0	0	0	0	0	0	15244	1102	38	5		5	STAG3L2	7	74298939	RNA	SNP	G	TCGA-HT-7611-01A-11D-2395-08		74298939	84839724	15	8128											
EPHB6	2051	broad.mit.edu	37	chr7	142568143	142568143	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagataccctgcaggctggCggggacccaggggaaaggtc	9	4	16	12	1	0	1	0	0	0	1	1	3	0	3	3	7	2	2	3	7	2	1			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr7:142568143C>T	uc011kst.2	+	17	3571	c.2784C>T	c.(2782-2784)ggC>ggT	p.G928G	EPHB6_uc011ksu.2_Silent_p.G928G|EPHB6_uc003wbs.3_Silent_p.G636G|EPHB6_uc003wbt.3_Silent_p.G402G|EPHB6_uc003wbu.3_Silent_p.G636G|EPHB6_uc003wbv.3_Silent_p.G312G	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	928						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.P927T(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TGCAGGCTGGCGGGGACCCAG	0.582													27	106					0	0	1	0	0	T	142568143	C	T	142568143	2	4	188	1	0	0	0	0	0	0	0	1	5178	755	27	1		1	EPHB6	7	142568143	Silent	SNP	C	TCGA-HT-7611-01A-11D-2395-08	68269204	142568143	16570520	16	8129											
ABP1	26	broad.mit.edu	37	chr7	150556078	150556078	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcctgcagatccactccAtggccgaccaggtgctgccc	7	6	10	18	2	0	1	0	0	0	1	2	2	2	1	7	2	3	2	7	2	0	0			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr7:150556078A>G	uc003why.1	+	3	6016	c.1798A>G	c.(1798-1800)Atg>Gtg	p.M600V	ABP1_uc003whz.1_Missense_Mutation_p.M600V|ABP1_uc003wia.1_Missense_Mutation_p.M600V	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	600					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	GATCCACTCCATGGCCGACCA	0.647													5	12					0	0	1	0	0	G	150556078	A	G	150556078	3	3	188	1	0	0	0	0	1	0	0	0	98	217	8	3	1804	3	ABP1	7	150556078	Missense_Mutation	SNP	A	TCGA-HT-7611-01A-11D-2395-08	7987935	150556078	8582585	17	8130											
TRPM6	140803	broad.mit.edu	37	chr9	77377091	77377091	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcttgttgagttatcagatAgggagctgtcctgggcctgc	7	13	13	8	0	2	2	1	1	1	1	3	3	3	3	2	2	2	3	2	2	2	4			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr9:77377091A>G	uc004ajl.1	-	25	4734	c.4496T>C	c.(4495-4497)cTa>cCa	p.L1499P	TRPM6_uc004ajk.1_Missense_Mutation_p.L1494P|TRPM6_uc022bib.1_Missense_Mutation_p.L1494P|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.L455P	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1499					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GTTATCAGATAGGGAGCTGTC	0.507													17	118					0	0	1	0	0	G	77377091	A	G	77377091	3	3	188	1	0	0	0	0	1	0	0	0	16587	420	15	4	1628	4	TRPM6	9	77377091	Missense_Mutation	SNP	A	TCGA-HT-7611-01A-11D-2395-08		77377091	63836340	18	8131											
OR1Q1	158131	broad.mit.edu	37	chr9	125377695	125377695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcatcctggtggtcctcCggatcccctcagccaagggc	6	8	11	16	1	2	0	2	0	0	0	6	1	6	1	6	4	1	1	6	4	1	0			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr9:125377695C>T	uc011lyy.2	+	0	679	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily Q, member 1 (OR1Q1), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						GGTGGTCCTCCGGATCCCCTC	0.537													33	123					0	0	1	0	0	T	125377695	C	T	125377695	3	4	188	1	0	0	0	0	1	0	0	0	10971	643	23	2	681	2	OR1Q1	9	125377695	Missense_Mutation	SNP	C	TCGA-HT-7611-01A-11D-2395-08	48000604	125377695	15835736	19	8132											
NCS1	23413	broad.mit.edu	37	chr9	132934945	132934945	+	Frame_Shift_Del	DEL	G	G	-																															gggccgcggccgccgaggatGgggaaatccaacagcaagtt																										TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr9:132934945delG	uc004bzi.2	+	0	89	c.3delG	c.(1-3)atgfs	p.M1fs		NM_014286	NP_055101	P62166	NCS1_HUMAN	Homo sapiens neuronal calcium sensor 1 (NCS1), transcript variant 1, mRNA.	1					negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development	Golgi cisterna membrane|cell junction|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|protein binding			large_intestine(1)|lung(4)|stomach(1)	6						cgccgAGGATGGGGAAATCCA	0.751													2	4	---	---	---	---						-	132934945	G	-	132934945	7	5	188	1	0	1	0	1	0	0	0	0	10240	1348	47	0	5	0	NCS1	9	132934945	Frame_Shift_Del	DEL	G	TCGA-HT-7611-01A-11D-2395-08	7557250	132934945	8278486	20	8133											
ABO	28	broad.mit.edu	37	chr9	136131727	136131727	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgtctccaggaacagctTcaggaaagccacgtatctgc	10	7	10	14	3	3	0	1	0	2	0	4	2	3	2	3	2	4	2	3	2	3	2			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr9:136131727T>C	uc004cda.1	-	7	413	c.388A>G	c.(388-390)Aag>Gag	p.K130E	ABO_uc010naf.1_5'UTR|ABO_uc011mcz.1_5'UTR|ABO_uc010nag.1_5'UTR	NM_020469	NP_065202	P16442	BGAT_HUMAN	Homo sapiens ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) (ABO), mRNA.	131					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		AGGAACAGCTTCAGGAAAGCC	0.701													33	41					0	0	1	0	0	C	136131727	T	C	136131727	3	2	188	1	0	0	0	0	1	0	0	0	97	1792	62	3	677	3	ABO	9	136131727	Missense_Mutation	SNP	T	TCGA-HT-7611-01A-11D-2395-08	3196782	136131727	5081704	21	8134											
CDC42BPG	55561	broad.mit.edu	37	chr11	64603009	64603009	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagctgctctcgcagggCggccacctccttcctcagtt	4	10	9	18	2	2	0	1	0	1	0	6	0	5	0	5	2	2	4	5	2	0	2			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr11:64603009C>T	uc001obs.4	-	14	1843	c.1843G>A	c.(1843-1845)Gcc>Acc	p.A615T		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	615					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						TCTCGCAGGGCGGCCACCTCC	0.692													14	124					0	0	1	0	0	T	64603009	C	T	64603009	3	4	188	1	0	0	0	0	1	0	0	0	3074	768	27	1	2904	1	CDC42BPG	11	64603009	Missense_Mutation	SNP	C	TCGA-HT-7611-01A-11D-2395-08		64603009	70403507	22	8135											
FOXM1	2305	broad.mit.edu	37	chr12	2983282	2983283	+	Frame_Shift_Del	DEL	GA	GA	-																															ctggtttgggtttgaggccgGagtcctggaggctgagttgg																										TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr12:2983282_2983283delGA	uc001qlf.3	-	1	645_646	c.362_363delTC	c.(361-363)ctcfs	p.L121fs	FOXM1_uc001qle.3_Frame_Shift_Del_p.L121fs|FOXM1_uc009zea.3_Frame_Shift_Del_p.L121fs|FOXM1_uc009zeb.3_Frame_Shift_Del_p.L121fs|FOXM1_uc001qlg.3_Frame_Shift_Del_p.L121fs	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	Homo sapiens forkhead box M1 (FOXM1), transcript variant 2, mRNA.	121					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of Ras protein signal transduction|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TTTGAGGCCGGAGTCCTGGAGG	0.54													27	120	---	---	---	---						-	2983283	GA	-	2983282	7	5	188	1	0	1	0	1	0	0	0	0	6018	1161	41	0	2078	0	FOXM1	12	2983282	Frame_Shift_Del	DEL	GA	TCGA-HT-7611-01A-11D-2395-08		2983282	130868613	23	8136											
STOML3	161003	broad.mit.edu	37	chr13	39564828	39564828	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgaaattctctttatcttGcttctcaggtgaagacaccc	10	13	6	12	1	3	2	1	1	3	1	5	3	3	2	1	1	1	1	1	1	3	5	rs147878470		TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr13:39564828G>A	uc001uwx.3	-	0	169	c.31C>T	c.(31-33)Caa>Taa	p.Q11*	STOML3_uc010tez.2_5'UTR	NM_145286	NP_660329	Q8TAV4	STML3_HUMAN	Homo sapiens stomatin (EPB72)-like 3 (STOML3), transcript variant 1, mRNA.	11						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		TCTTTATCTTGCTTCTCAGGT	0.388													17	80					0	0	1	0	0	A	39564828	G	A	39564828	4	1	188	1	0	0	0	0	0	1	0	0	15314	1328	46	3	901	3	STOML3	13	39564828	Nonsense_Mutation	SNP	G	TCGA-HT-7611-01A-11D-2395-08		39564828	75605050	24	8137											
CHRM5	1133	broad.mit.edu	37	chr15	34356257	34356257	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccagacactgagtgccAttctcctggccttcatcatc	8	10	7	16	0	3	2	2	1	1	1	5	2	3	2	4	1	2	0	4	1	0	2			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr15:34356257A>G	uc001zhk.1	+	2	2009	c.1339A>G	c.(1339-1341)Att>Gtt	p.I447V	CHRM5_uc001zhl.1_Missense_Mutation_p.I447V|CHRM5_uc021sir.1_Missense_Mutation_p.I447V	NM_012125	NP_036257	P08912	ACM5_HUMAN	Homo sapiens cholinergic receptor, muscarinic 5 (CHRM5), mRNA.	447					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.A446D(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	ACTGAGTGCCATTCTCCTGGC	0.512													35	64					0	0	1	0	0	G	34356257	A	G	34356257	3	3	188	1	0	0	0	0	1	0	0	0	3380	217	8	3	1341	3	CHRM5	15	34356257	Missense_Mutation	SNP	A	TCGA-HT-7611-01A-11D-2395-08		34356257	68175135	25	8138											
CASC5	57082	broad.mit.edu	37	chr15	40915064	40915064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctattgtattttcagaagacGataagaatgatatggatatc	15	14	8	4	1	1	4	1	1	0	3	2	6	1	5	0	1	0	1	0	1	7	8			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr15:40915064G>A	uc010bbs.1	+	10	2841	c.2680G>A	c.(2680-2682)Gat>Aat	p.D894N	CASC5_uc010ucq.1_Missense_Mutation_p.D718N|CASC5_uc001zme.3_Missense_Mutation_p.D868N|CASC5_uc010bbt.1_Missense_Mutation_p.D868N	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	894	2 X 104 AA approximate repeats.				CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TTCAGAAGACGATAAGAATGA	0.333													10	92					0	0	1	0	0	A	40915064	G	A	40915064	3	1	188	1	0	0	0	0	1	0	0	0	2663	1058	37	2	2718	2	CASC5	15	40915064	Missense_Mutation	SNP	G	TCGA-HT-7611-01A-11D-2395-08	6558807	40915064	61616328	26	8139											
GPRC5B	51704	broad.mit.edu	37	chr16	19883181	19883181	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggccttgttctccatataGgcccgcggcagctgcacgtc	7	9	11	14	3	1	0	0	0	1	0	3	0	1	0	3	3	2	4	3	3	3	4			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr16:19883181G>C	uc010vav.2	-	1	1296	c.1065C>G	c.(1063-1065)gcC>gcG	p.A355A	GPRC5B_uc021tef.1_Silent_p.A321A|GPRC5B_uc002dgt.3_Silent_p.A329A	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member B (GPRC5B), mRNA.	329										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TCTCCATATAGGCCCGCGGCA	0.597													9	83					0	0	1	0	0	C	19883181	G	C	19883181	2	2	188	1	0	0	0	0	0	0	0	1	6725	987	35	5		5	GPRC5B	16	19883181	Silent	SNP	G	TCGA-HT-7611-01A-11D-2395-08		19883181	70471572	27	8140											
GPRC5B	51704	broad.mit.edu	37	chr16	19883826	19883826	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtctcgtcctcctggatGatgaaggcaaacgtcagccc	9	9	11	12	2	2	2	1	2	1	0	5	3	4	3	3	3	2	1	3	3	2	0			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr16:19883826G>T	uc010vav.2	-	1	651	c.420C>A	c.(418-420)atC>atA	p.I140I	GPRC5B_uc021tef.1_Silent_p.I106I|GPRC5B_uc002dgt.3_Silent_p.I114I	NM_016235	NP_057319	Q9NZH0	GPC5B_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member B (GPRC5B), mRNA.	114										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CCTCCTGGATGATGAAGGCAA	0.612													5	27					0.000602214	0.000626795	1	1	0	T	19883826	G	T	19883826	2	4	188	1	0	0	0	0	0	0	0	1	6725	1280	45	5		5	GPRC5B	16	19883826	Silent	SNP	G	TCGA-HT-7611-01A-11D-2395-08	645	19883826	70470927	28	8141											
CHD9	80205	broad.mit.edu	37	chr16	53348818	53348818	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caacctcaaggaattcctgaTacagaaagtccagttccagt	14	9	7	11	0	1	2	1	1	0	1	4	3	4	3	4	1	2	1	4	1	5	3			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr16:53348818T>A	uc002ehb.3	+	34	7610	c.7446T>A	c.(7444-7446)gaT>gaA	p.D2482E	CHD9_uc002egy.3_Missense_Mutation_p.D2466E|CHD9_uc002ehc.3_Missense_Mutation_p.D2467E|CHD9_uc002ehf.3_Missense_Mutation_p.D1580E|CHD9_uc002ehg.2_Missense_Mutation_p.D1597E|CHD9_uc010cbw.3_Missense_Mutation_p.D548E	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	2482					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	p.I2481fs*71(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GAATTCCTGATACAGAAAGTC	0.398													14	82					0	0	1	0	0	A	53348818	T	A	53348818	3	1	188	1	0	0	0	0	1	0	0	0	3332	1403	49	5	7536	5	CHD9	16	53348818	Missense_Mutation	SNP	T	TCGA-HT-7611-01A-11D-2395-08	33464992	53348818	37005935	29	8142											
TP53	7157	broad.mit.edu	37	chr17	7577081	7577081	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcttgcggagattctctTcctctgtgcgccggtctctc	2	16	9	14	3	4	1	0	0	4	1	8	2	5	1	2	2	2	0	2	2	0	4			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr17:7577081T>C	uc002gim.2	-	7	1051	c.857A>G	c.(856-858)gAa>gGa	p.E286G	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.E286G|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.E154G|TP53_uc010cnf.1_Missense_Mutation_p.E154G|TP53_uc002gii.1_Missense_Mutation_p.E154G|TP53_uc010cni.1_Missense_Mutation_p.E286G|TP53_uc010cnh.1_Missense_Mutation_p.E286G|TP53_uc002gij.2_Missense_Mutation_p.E286G|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.	286	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E285K(107)|p.E286K(56)|p.E286G(34)|p.E285*(20)|p.E286*(18)|p.E286V(17)|p.E285V(14)|p.0?(8)|p.E285G(5)|p.E286Q(5)|p.E285Q(4)|p.E286fs*17(4)|p.E285E(3)|p.E285_N288delEEEN(2)|p.E285A(2)|p.R282_E287delRRTEEE(2)|p.T284_G293del10(2)|p.E285fs*13(2)|p.?(2)|p.L265_K305del41(2)|p.E286D(2)|p.E286E(2)|p.R283fs*16(2)|p.E286A(2)|p.V272_K292del21(2)|p.E286fs*59(2)|p.E285_L289delEEENL(2)|p.T284fs*57(1)|p.R283fs*56(1)|p.E285fs*60(1)|p.E285fs*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)		GAGATTCTCTTCCTCTGTGCG	0.562		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)			48	21					0	0	1	0	0	C	7577081	T	C	7577081	3	2	188	1	0	0	0	0	1	0	0	0	16378	1783	62	3	429	3	TP53	17	7577081	Missense_Mutation	SNP	T	TCGA-HT-7611-01A-11D-2395-08		7577081	73618129	30	8143											
TP53	7157	broad.mit.edu	37	chr17	7578266	7578266	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaatttccttccactcggaTaagatgctgaggaggggcca	11	9	11	10	1	0	2	0	1	0	1	3	4	2	4	3	4	1	1	3	4	2	3			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr17:7578266T>A	uc002gim.2	-	5	777	c.583A>T	c.(583-585)Atc>Ttc	p.I195F	TP53_uc002gig.1_Missense_Mutation_p.I195F|TP53_uc002gih.3_Missense_Mutation_p.I195F|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.I63F|TP53_uc010cnf.1_Missense_Mutation_p.I63F|TP53_uc002gii.1_Missense_Mutation_p.I63F|TP53_uc010cni.1_Missense_Mutation_p.I195F|TP53_uc010cnh.1_Missense_Mutation_p.I195F|TP53_uc002gij.2_Missense_Mutation_p.I195F|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.I102F|TP53_uc002gio.2_Missense_Mutation_p.I63F|TP53_uc010vug.2_Missense_Mutation_p.I156F|DL476358_uc021tph.1_Splice_Site	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	195	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.I195T(67)|p.I195F(38)|p.L194R(37)|p.L194F(18)|p.I195N(12)|p.L194P(8)|p.I195fs*14(8)|p.A189_V197delAPPQHLIRV(8)|p.0?(8)|p.I195S(6)|p.?(6)|p.L194H(6)|p.I195fs*52(5)|p.P191_E198>Q(4)|p.L194L(4)|p.H193_I195delHLI(2)|p.I195fs*12(2)|p.I195fs*50(2)|p.L194fs*15(2)|p.I195_G199delIRVEG(2)|p.I195L(2)|p.L194fs*52(2)|p.H193_I195>AP(2)|p.K164_P219del(1)|p.L194V(1)|p.P191fs*6(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195M(1)|p.L194fs*14(1)|p.I102F(1)|p.P98_E105>Q(1)|p.I63F(1)|p.L194I(1)|p.I63fs*14(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)		TCCACTCGGATAAGATGCTGA	0.557		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)			4	44					0	0	1	0	0	A	7578266	T	A	7578266	3	1	188	1	0	0	0	0	1	0	0	0	16378	1406	49	5	711	5	TP53	17	7578266	Missense_Mutation	SNP	T	TCGA-HT-7611-01A-11D-2395-08	1185	7578266	73616944	31	8144											
IFI35	3430	broad.mit.edu	37	chr17	41166236	41166236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttccagaagcccacccgcGggggcggggaggtagaggcc	8	3	17	13	3	0	2	0	0	0	2	1	3	1	3	4	6	1	1	4	6	2	2			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr17:41166236G>A	uc021txx.1	+	6	1010	c.787G>A	c.(787-789)Ggg>Agg	p.G263R		NM_005533	NP_005524	P80217	IN35_HUMAN	Homo sapiens interferon-induced protein 35 (IFI35), mRNA.	261					response to virus|type I interferon-mediated signaling pathway	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		GCCCACCCGCGGGGGCGGGGA	0.622													39	31					0	0	1	0	0	A	41166236	G	A	41166236	3	1	188	1	0	0	0	0	1	0	0	0	7516	1116	39	2	813	2	IFI35	17	41166236	Missense_Mutation	SNP	G	TCGA-HT-7611-01A-11D-2395-08	33587970	41166236	40028974	32	8145											
CYP4F8	11283	broad.mit.edu	37	chr19	15734031	15734031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcactccctgtggacggcGcttccacagggcctgcagac	6	7	11	17	2	1	1	1	0	0	1	3	2	3	2	4	3	1	2	4	3	0	1			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr19:15734031G>A	uc002nbi.3	+	7	825	c.761G>A	c.(760-762)cGc>cAc	p.R254H	CYP4F8_uc010xoj.2_Missense_Mutation_p.R67H	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	255					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TGTGGACGGCGCTTCCACAGG	0.562													46	47					0	0	1	0	0	A	15734031	G	A	15734031	3	1	188	1	0	0	0	0	1	0	0	0	4191	1087	38	1	785	1	CYP4F8	19	15734031	Missense_Mutation	SNP	G	TCGA-HT-7611-01A-11D-2395-08		15734031	43394952	33	8146											
FCGBP	8857	broad.mit.edu	37	chr19	40366226	40366226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtcggtggcggagatcaCgccgcaggcgtccgggccgc	4	4	18	15	8	1	1	1	0	0	1	3	2	2	1	4	5	0	1	4	5	0	0			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr19:40366226C>T	uc002omp.4	-	29	14016	c.14008G>A	c.(14008-14010)Gtg>Atg	p.V4670M		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4670	VWFD 11.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCGGAGATCACGCCGCAGGCG	0.726													19	70					0	0	1	0	0	T	40366226	C	T	40366226	3	4	188	1	0	0	0	0	1	0	0	0	5778	536	19	1	2237	1	FCGBP	19	40366226	Missense_Mutation	SNP	C	TCGA-HT-7611-01A-11D-2395-08	24632195	40366226	18762757	34	8147											
BCOR	54880	broad.mit.edu	37	chrX	39932880	39932880	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccatctgcattggcattgggGgcgggtgatgcggaggctgg	5	9	19	8	2	1	1	0	1	1	0	1	2	1	2	1	7	2	3	1	7	0	2			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chrX:39932880G>T	uc004den.4	-	3	2011	c.1719C>A	c.(1717-1719)gcC>gcA	p.A573A	BCOR_uc004dep.4_Silent_p.A573A|BCOR_uc004deo.4_Silent_p.A573A|BCOR_uc004dem.4_Silent_p.A573A|BCOR_uc004deq.4_Silent_p.A573A	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	573					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						TGGCATTGGGGGCGGGTGATG	0.617			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						4	46					0.00024832	0.00026384	1	1	0	T	39932880	G	T	39932880	2	4	188	1	0	0	0	0	0	0	0	1	1386	1219	43	5		5	BCOR	23	39932880	Silent	SNP	G	TCGA-HT-7611-01A-11D-2395-08		39932880	115337680	35	8148											
ATRX	546	broad.mit.edu	37	chrX	76938601	76938605	+	Frame_Shift_Del	DEL	AATTT	AATTT	-																															ctgattgcttagattttggcAatttattaggcttaggatta																										TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chrX:76938601_76938605delAATTT	uc004ecp.4	-	8	2375_2379	c.2143_2147delAAATT	c.(2143-2148)aaattgfs	p.K715fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K677fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K500fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K647fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K686fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K660fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	715					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AGATTTTGGCAATTTATTAGGCTTA	0.361			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						25	118	---	---	---	---						-	76938605	AATTT	-	76938601	7	5	188	1	0	1	0	1	0	0	0	0	1208	131	5	0	5439	0	ATRX	23	76938601	Frame_Shift_Del	DEL	AATTT	TCGA-HT-7611-01A-11D-2395-08	37005721	76938601	78331959	36	8149											
PAFAH2	5051	broad.mit.edu	37	chr1	26311003	26311003	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaggccagctccatgcagaAggctgaatacaaagtcctgg	12	7	12	10	0	0	3	0	2	0	1	2	3	2	3	3	3	3	3	3	3	4	1			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:26311003A>G	uc001bld.4	-	4	538	c.358T>C	c.(358-360)Ttc>Ctc	p.F120L	PAFAH2_uc001ble.4_Missense_Mutation_p.F120L	NM_000437	NP_000428	Q99487	PAFA2_HUMAN	Homo sapiens platelet-activating factor acetylhydrolase 2, 40kDa (PAFAH2), mRNA.	120					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		TCCATGCAGAAGGCTGAATAC	0.522													17	5					0	0	1	0	0	G	26311003	A	G	26311003	3	3	189	1	0	0	0	0	1	0	0	0	11387	72	3	4	848	4	PAFAH2	1	26311003	Missense_Mutation	SNP	A	TCGA-HT-7616-01A-11D-2253-08		26311003	222939618	1	8150											
CACHD1	57685	broad.mit.edu	37	chr1	65141193	65141193	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caacgaaacctgcgactctcTtgccttctgtgcctgcagca	8	10	8	15	2	2	0	0	0	2	0	3	2	2	0	3	0	7	2	3	0	2	2			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:65141193T>C	uc001dbo.1	+	19	2789	c.2684T>C	c.(2683-2685)cTt>cCt	p.L895P	CACHD1_uc001dbp.1_Missense_Mutation_p.L650P|CACHD1_uc001dbq.1_Missense_Mutation_p.L650P|CACHD1_uc010opa.1_Missense_Mutation_p.L139P	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	946					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGCGACTCTCTTGCCTTCTGT	0.478											OREG0013544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	133					0	0	1	0	0	C	65141193	T	C	65141193	3	2	189	1	0	0	0	0	1	0	0	0	2537	1609	56	4	2762	4	CACHD1	1	65141193	Missense_Mutation	SNP	T	TCGA-HT-7616-01A-11D-2253-08	38830190	65141193	184109428	2	8151											
FUBP1	8880	broad.mit.edu	37	chr1	78432569	78432570	+	Splice_Site	INS	-	-	G																															atgagaatgtaacattaccaINSggagctatctgtattttgca																										TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:78432569_78432570insG	uc001dii.3	-	6	504	c.415_splice	c.e6+1	p.D139_splice	FUBP1_uc001dih.4_Splice_Site|FUBP1_uc010orm.2_Splice_Site_p.D160_splice	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	139	KH 1.				transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TAACATTACCAGGAGCTATCTG	0.312			"F, N"		oligodendroglioma								30	42	---	---	---	---						G	78432570	-	G	78432569	8	5	189	1	0	1	1	0	0	0	1	0	6092	202	7	0	1580	0	FUBP1	1	78432569	Splice_Site	INS	-	TCGA-HT-7616-01A-11D-2253-08	13291376	78432569	170818052	3	8152											
ELTD1	64123	broad.mit.edu	37	chr1	79470843	79470843	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atttcacattttgcatttggGagacaaggtgtcttggtgca	9	15	11	6	0	2	1	1	0	1	1	2	2	2	1	0	3	2	2	0	3	1	5			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:79470843G>C	uc001diq.4	-	1	240	c.84C>G	c.(82-84)ctC>ctG	p.L28L		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	28	EGF-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTGCATTTGGGAGACAAGGTG	0.343													49	17					0	0	1	0	0	C	79470843	G	C	79470843	2	2	189	1	0	0	0	0	0	0	0	1	5084	1161	41	5		5	ELTD1	1	79470843	Silent	SNP	G	TCGA-HT-7616-01A-11D-2253-08	1038274	79470843	169779778	4	8153											
SLC44A3	126969	broad.mit.edu	37	chr1	95307657	95307657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaagtgcgtgctggggtttGctatcgtatccacaggcatc	7	12	13	9	2	0	1	0	1	0	0	3	1	1	1	1	3	3	5	1	3	3	3			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:95307657G>A	uc001dqv.4	+	7	969	c.862G>A	c.(862-864)Gct>Act	p.A288T	SLC44A3_uc001dqx.4_Missense_Mutation_p.A288T|SLC44A3_uc010otq.2_Missense_Mutation_p.A220T|SLC44A3_uc010otr.2_Missense_Mutation_p.A252T|SLC44A3_uc001dqw.4_Missense_Mutation_p.A240T|SLC44A3_uc010ots.2_Missense_Mutation_p.A208T|SLC44A3_uc009wds.3_Missense_Mutation_p.A191T|SLC44A3_uc010ott.2_Missense_Mutation_p.A208T|SLC44A3_uc010otu.1_Non-coding_Transcript	NM_001114106	NP_689582	Q8N4M1	CTL3_HUMAN	Homo sapiens solute carrier family 44, member 3 (SLC44A3), transcript variant 1, mRNA.	288						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	GCTGGGGTTTGCTATCGTATC	0.448													12	68					0	0	1	0	0	A	95307657	G	A	95307657	3	1	189	1	0	0	0	0	1	0	0	0	14637	1319	46	3	892	3	SLC44A3	1	95307657	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	15836814	95307657	153942964	5	8154											
FCRL5	83416	broad.mit.edu	37	chr1	157516858	157516858	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttagtatttctttcccaaggTaccgatggtaccattttgtt	8	18	7	8	1	1	0	0	0	1	0	2	1	2	0	3	2	2	4	3	2	5	9			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:157516858T>C	uc009wsm.3	-	2	340	c.182A>G	c.(181-183)tAc>tGc	p.Y61C	FCRL5_uc001fqu.3_Missense_Mutation_p.Y61C|FCRL5_uc010phv.1_Missense_Mutation_p.Y61C|FCRL5_uc010phw.1_Intron|FCRL5_uc001fqv.1_Missense_Mutation_p.Y61C|FCRL5_uc010phx.2_5'UTR	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	61	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TTTCCCAAGGTACCGATGGTA	0.502													29	68					0	0	1	0	0	C	157516858	T	C	157516858	3	2	189	1	0	0	0	0	1	0	0	0	5798	1638	57	3	2811	3	FCRL5	1	157516858	Missense_Mutation	SNP	T	TCGA-HT-7616-01A-11D-2253-08	62209201	157516858	91733763	6	8155											
SOAT1	6646	broad.mit.edu	37	chr1	179316745	179316745	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatttttaggtgtgctgatTctcttccttactttttttgc	4	24	6	7	0	1	1	0	1	1	0	3	1	2	1	1	1	3	1	1	1	3	10			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:179316745T>G	uc001gml.3	+	11	1359	c.1128T>G	c.(1126-1128)atT>atG	p.I376M	SOAT1_uc010pni.2_Missense_Mutation_p.I311M|SOAT1_uc001gmm.3_Missense_Mutation_p.I318M|SOAT1_uc010pnj.2_Missense_Mutation_p.I112M|SOAT1_uc010pnk.2_Missense_Mutation_p.I311M	NM_003101	NP_003092	P35610	SOAT1_HUMAN	Homo sapiens sterol O-acyltransferase 1 (SOAT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	376					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	GTGTGCTGATTCTCTTCCTTA	0.348													6	65					0	0	1	0	0	G	179316745	T	G	179316745	3	3	189	1	0	0	0	0	1	0	0	0	14910	1771	62	5	1170	5	SOAT1	1	179316745	Missense_Mutation	SNP	T	TCGA-HT-7616-01A-11D-2253-08	21799887	179316745	69933876	7	8156											
RYR2	6262	broad.mit.edu	37	chr1	237666709	237666709	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagtggaacacagccgagaGtacaagcaagaaagaactta	20	4	10	7	1	0	3	0	0	0	3	0	5	0	4	1	1	5	2	1	1	8	2			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:237666709G>T	uc001hyl.1	+	21	2637	c.2517G>T	c.(2515-2517)gaG>gaT	p.E839D		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	839					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACAGCCGAGAGTACAAGCAAG	0.507													16	69					2.35188e-11	2.66781e-11	1	1	0	T	237666709	G	T	237666709	3	4	189	1	0	0	0	0	1	0	0	0	13769	1020	36	5	2603	5	RYR2	1	237666709	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	58349964	237666709	11583912	8	8157											
SF3B14	51639	broad.mit.edu	37	chr2	24299092	24299092	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccctcttggccgcttgcAtcgccatcttggcgggctga	3	11	12	15	4	2	1	0	1	2	0	4	1	2	1	3	3	1	3	3	3	0	3			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:24299092A>T	uc002rev.3	-	0	223	c.8T>A	c.(7-9)aTg>aAg	p.M3K	LOC375190_uc002rew.3_5'Flank|SF3B14_uc010eyb.3_Non-coding_Transcript	NM_016047	NP_057131	Q9Y3B4	PM14_HUMAN	Homo sapiens splicing factor 3B, 14 kDa subunit (SF3B14), mRNA.	3					nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|nucleoplasm	RNA binding|nucleotide binding|protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCGCTTGCATCGCCATCTT	0.567													61	142					0	0	1	0	0	T	24299092	A	T	24299092	3	4	189	1	0	0	0	0	1	0	0	0	14150	217	8	5	385	5	SF3B14	2	24299092	Missense_Mutation	SNP	A	TCGA-HT-7616-01A-11D-2253-08		24299092	218900281	9	8158											
C2orf28	51374	broad.mit.edu	37	chr2	27438348	27438348	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtactttgcagagacctGcaagcaaaccccctcaaagg	12	8	9	12	0	1	1	1	0	0	1	1	2	1	1	3	1	5	4	3	1	4	2			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:27438348G>A	uc002rjf.3	+	3	638	c.465G>A	c.(463-465)ctG>ctA	p.L155L	C2orf28_uc002rjg.3_Silent_p.L42L|CAD_uc002rji.3_5'Flank|CAD_uc010eyw.3_5'Flank	NM_001170795	NP_001164266	Q6UW56	APR3_HUMAN	Homo sapiens chromosome 2 open reading frame 28 (C2orf28), transcript variant 3, mRNA.	100	EGF-like.					integral to membrane|plasma membrane				large_intestine(2)|lung(2)|skin(2)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGAGACCTGCAAGCAAACC	0.468													44	78					0	0	1	0	0	A	27438348	G	A	27438348	2	1	189	1	0	0	0	0	0	0	0	1	2160	1306	46	3		3	C2orf28	2	27438348	Silent	SNP	G	TCGA-HT-7616-01A-11D-2253-08	3139256	27438348	215761025	10	8159											
TRIM54	57159	broad.mit.edu	37	chr2	27505759	27505759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcaaatgtgccaacgacGtcttccaggtgggtgccagg	8	7	14	12	3	1	0	0	0	1	0	2	1	2	0	4	3	3	1	4	3	2	1			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:27505759G>A	uc002rjo.3	+	0	463	c.160G>A	c.(160-162)Gtc>Atc	p.V54I	TRIM54_uc002rjn.3_Missense_Mutation_p.V54I	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	Homo sapiens tripartite motif containing 54 (TRIM54), transcript variant 2, mRNA.	54					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCAACGACGTCTTCCAGGT	0.592													112	191					0	0	1	0	0	A	27505759	G	A	27505759	3	1	189	1	0	0	0	0	1	0	0	0	16525	1145	40	1	162	1	TRIM54	2	27505759	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	67411	27505759	215693614	11	8160											
DCAF17	80067	broad.mit.edu	37	chr2	172337525	172337525	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgacagagacttggtgctAcacatagagcagaaacccaa	15	8	9	9	0	0	4	0	1	0	3	0	5	0	4	1	1	4	2	1	1	4	4			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:172337525A>C	uc002ugx.3	+	13	1791	c.1464A>C	c.(1462-1464)ctA>ctC	p.L488L	DCAF17_uc010zdq.2_Non-coding_Transcript|DCAF17_uc010zdr.2_Non-coding_Transcript|DCAF17_uc010fqf.2_Silent_p.L421L|DCAF17_uc010fqg.3_Silent_p.L208L	NM_025000	NP_079276	Q5H9S7	DCA17_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 17 (DCAF17), transcript variant 1, mRNA.	488						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						ACTTGGTGCTACACATAGAGC	0.398													6	142					0	0	1	0	0	C	172337525	A	C	172337525	2	2	189	1	0	0	0	0	0	0	0	1	4269	378	14	5		5	DCAF17	2	172337525	Silent	SNP	A	TCGA-HT-7616-01A-11D-2253-08	144831766	172337525	70861848	12	8161											
TTN	7273	broad.mit.edu	37	chr2	179455636	179455636	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggtttaccaggaggagaCggaggactaaatttatgctt	12	11	12	6	1	0	1	0	0	0	1	0	5	0	4	1	5	2	2	1	5	4	6			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:179455636C>T	uc021vsy.1	-	252	53337	c.53112G>A	c.(53110-53112)ccG>ccA	p.P17704P	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.P11399P|TTN_uc021vta.1_Silent_p.P11332P|TTN_uc021vtb.1_Silent_p.P11207P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18631	Fibronectin type-III 28.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P17703L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGAGGAGACGGAGGACTAA	0.458													46	103					0	0	1	0	0	T	179455636	C	T	179455636	2	4	189	1	0	0	0	0	0	0	0	1	16732	523	19	1		1	TTN	2	179455636	Silent	SNP	C	TCGA-HT-7616-01A-11D-2253-08	7118111	179455636	63743737	13	8162											
TTN	7273	broad.mit.edu	37	chr2	179591914	179591914	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagtactgagattgttcatCtgtatgacggccactgagtc	9	13	10	9	1	3	3	2	3	1	1	4	4	3	3	1	1	1	3	1	1	2	4			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:179591914C>G	uc021vsy.1	-	65	16671	c.16446G>C	c.(16444-16446)caG>caC	p.Q5482H	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Q2143H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6409	Ig-like 35.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATTGTTCATCTGTATGACGG	0.448													21	60					0	0	1	0	0	G	179591914	C	G	179591914	3	3	189	1	0	0	0	0	1	0	0	0	16732	912	32	5	84527	5	TTN	2	179591914	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08	136278	179591914	63607459	14	8163											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								48	69					0	0	1	0	0	T	209113112	C	T	209113112	3	4	189	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08	29521198	209113112	34086261	15	8164											
UCN2	90226	broad.mit.edu	37	chr3	48600467	48600467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggggagaattctgagggcGgagctggaaggttgggatag	9	8	20	4	1	1	2	0	1	1	1	1	6	1	5	0	7	1	2	0	7	3	3			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr3:48600467G>A	uc003cty.1	-	1	169	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	PFKFB4_uc011bbm.2_5'Flank|UCN2_uc021wxo.1_Missense_Mutation_p.R31C	NM_033199	NP_149976	Q96RP3	UCN2_HUMAN	Homo sapiens urocortin 2 (UCN2), mRNA.	31					cAMP biosynthetic process|digestion|response to stress		hormone activity|hormone binding								BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TTCTGAGGGCGGAGCTGGAAG	0.632													3	19					0	0	1	0	0	A	48600467	G	A	48600467	3	1	189	1	0	0	0	0	1	0	0	0	16925	1116	39	2	251	2	UCN2	3	48600467	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08		48600467	149421963	16	8165											
NT5DC2	64943	broad.mit.edu	37	chr3	52561696	52561696	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccacatcgaagagctggCgccaatcgggacccaccatg	11	5	11	14	3	0	2	0	1	0	1	2	4	0	3	4	2	1	1	4	2	2	0			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr3:52561696C>A	uc003den.3	-	8	1014	c.974G>T	c.(973-975)cGc>cTc	p.R325L	NT5DC2_uc003dem.3_Missense_Mutation_p.R158L|NT5DC2_uc010hmi.3_Missense_Mutation_p.R300L|NT5DC2_uc010hmj.3_Missense_Mutation_p.R104L|NT5DC2_uc003deo.3_Missense_Mutation_p.R288L	NM_001134231	NP_001127703	Q9H857	NT5D2_HUMAN	Homo sapiens 5'-nucleotidase domain containing 2 (NT5DC2), transcript variant 1, mRNA.	288							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		GAAGAGCTGGCGCCAATCGGG	0.627													3	80					0.150653	0.150653	1	1	0	A	52561696	C	A	52561696	3	1	189	1	0	0	0	0	1	0	0	0	10691	768	27	5	723	5	NT5DC2	3	52561696	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08	3961229	52561696	145460734	17	8166											
CEP97	79598	broad.mit.edu	37	chr3	101446274	101446274	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggatgatgggtgtggccaaGctgacgttgcttcgtgtatt	6	13	15	7	3	0	2	0	2	0	0	1	3	0	3	1	3	2	4	1	3	2	4			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr3:101446274G>A	uc003dvk.1	+	2	261	c.234G>A	c.(232-234)aaG>aaA	p.K78K	CEP97_uc010hpm.1_Silent_p.K78K|CEP97_uc011bhf.1_Silent_p.K78K|CEP97_uc003dvl.1_5'UTR	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	Homo sapiens centrosomal protein 97kDa (CEP97), mRNA.	78						centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GTGTGGCCAAGCTGACGTTGC	0.373													5	160					0	0	1	0	0	A	101446274	G	A	101446274	2	1	189	1	0	0	0	0	0	0	0	1	3263	962	34	3		3	CEP97	3	101446274	Silent	SNP	G	TCGA-HT-7616-01A-11D-2253-08	48884578	101446274	96576156	18	8167											
CMYA5	202333	broad.mit.edu	37	chr5	79026993	79026993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagttgatctccaaatatgCagccccactcaatgcaacac	15	8	5	13	0	2	1	1	1	1	0	3	1	2	1	3	0	4	3	3	0	5	2			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr5:79026993C>T	uc003kgc.3	+	1	2477	c.2405C>T	c.(2404-2406)gCa>gTa	p.A802V		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	802						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCCAAATATGCAGCCCCACTC	0.443													32	71					0	0	1	0	0	T	79026993	C	T	79026993	3	4	189	1	0	0	0	0	1	0	0	0	3590	710	25	3	2411	3	CMYA5	5	79026993	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08		79026993	101888267	19	8168											
PCDHGC5	56097	broad.mit.edu	37	chr5	140718979	140718979	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcagtgaaaccactacGccaggattccggattcctct	13	9	7	12	2	2	1	1	1	1	0	4	3	4	3	4	2	2	0	4	2	4	3			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr5:140718979G>T	uc003ljk.2	+	0	626	c.441G>T	c.(439-441)acG>acT	p.T147T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.T147T	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	147	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACCACTACGCCAGGATTCC	0.458													5	112					0.0293803	0.0301744	1	1	0	T	140718979	G	T	140718979	2	4	189	1	0	0	0	0	0	0	0	1	11571	1074	38	5		5	PCDHGC5	5	140718979	Silent	SNP	G	TCGA-HT-7616-01A-11D-2253-08	61691986	140718979	40196281	20	8169											
F13A1	2162	broad.mit.edu	37	chr6	6266847	6266847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttctgggtttcgactggttCgaagtacgccatagggagtc	7	13	13	8	3	1	0	0	0	1	0	4	3	1	1	1	3	1	3	1	3	3	5			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:6266847C>T	uc003mwv.3	-	3	638	c.515G>A	c.(514-516)cGa>cAa	p.R172Q	F13A1_uc011dib.2_Missense_Mutation_p.R109Q	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	172					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.R172Q(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TCGACTGGTTCGAAGTACGCC	0.458													64	118					0	0	1	0	0	T	6266847	C	T	6266847	3	4	189	1	0	0	0	0	1	0	0	0	5340	884	31	2	1731	2	F13A1	6	6266847	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08		6266847	164848220	21	8170											
MSH5	4439	broad.mit.edu	37	chr6	31708253	31708253	+	Frame_Shift_Del	DEL	T	T	-																															cctccaagctcatggcctccTtaggagcgaacccaaggagg																										TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:31708253delT	uc003nwu.2	+	1	138	c.10delT	c.(10-12)ttafs	p.L4fs	MSH5_uc003nwx.2_Frame_Shift_Del_p.L4fs|MSH5_uc003nwv.2_Frame_Shift_Del_p.L4fs|MSH5_uc003nww.2_Frame_Shift_Del_p.L4fs	NM_172165	NP_751897	O43196	MSH5_HUMAN	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.	4					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|ovary(2)|skin(2)	5						CATGGCCTCCTTAGGAGCGAA	0.682								Direct reversal of damage;Mismatch excision repair (MMR)					2	4	---	---	---	---						-	31708253	T	-	31708253	7	5	189	1	0	1	0	1	0	0	0	0	9873	1606	56	0	12	0	MSH5	6	31708253	Frame_Shift_Del	DEL	T	TCGA-HT-7616-01A-11D-2253-08	25441406	31708253	139406814	22	8171											
STX11	8676	broad.mit.edu	37	chr6	144507945	144507945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaaccagctgctggtggccGacgtgaagcggctgggaaag	11	5	16	9	3	0	1	0	1	0	0	0	3	0	2	2	4	4	3	2	4	4	0			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:144507945G>A	uc003qks.4	+	1	373	c.181G>A	c.(181-183)Gac>Aac	p.D61N	STX11_uc021zgk.1_Missense_Mutation_p.D61N	NM_003764	NP_003755	O75558	STX11_HUMAN	Homo sapiens syntaxin 11 (STX11), mRNA.	61				D -> N (in Ref. 1; AAD02107).	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GCTGGTGGCCGACGTGAAGCG	0.612									Familial Hemophagocytic Lymphohistiocytosis				9	21					0	0	1	0	0	A	144507945	G	A	144507945	3	1	189	1	0	0	0	0	1	0	0	0	15336	1058	37	2	183	2	STX11	6	144507945	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	112799692	144507945	26607122	23	8172											
SHPRH	257218	broad.mit.edu	37	chr6	146271526	146271526	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggatggactgcgtttcttGctgatgtgtttgtttcacaa	6	18	11	6	1	2	1	1	1	1	0	2	3	2	3	0	2	2	4	0	2	1	5			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:146271526G>A	uc003qlf.3	-	3	1255	c.856C>T	c.(856-858)Caa>Taa	p.Q286*	SHPRH_uc003qle.3_Nonsense_Mutation_p.Q286*|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Nonsense_Mutation_p.Q175*	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	286					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGCGTTTCTTGCTGATGTGTT	0.468													62	147					0	0	1	0	0	A	146271526	G	A	146271526	4	1	189	1	0	0	0	0	0	1	0	0	14291	1328	46	3	4347	3	SHPRH	6	146271526	Nonsense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	1763581	146271526	24843541	24	8173											
TULP4	56995	broad.mit.edu	37	chr6	158902198	158902198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggacgacccggaggtgggcGgcccgtgctacacgctctac	7	5	15	14	5	1	0	0	0	1	0	1	3	1	2	2	5	3	2	2	5	2	2			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:158902198G>A	uc003qrf.3	+	7	2720	c.1363G>A	c.(1363-1365)Ggc>Agc	p.G455S	TULP4_uc011efo.2_Missense_Mutation_p.G455S|TULP4_uc003qrg.3_Missense_Mutation_p.G455S	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	455					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GGAGGTGGGCGGCCCGTGCTA	0.617													3	65					0	0	1	0	0	A	158902198	G	A	158902198	3	1	189	1	0	0	0	0	1	0	0	0	16773	1116	39	2	1393	2	TULP4	6	158902198	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	12630672	158902198	12212869	25	8174											
FNDC1	84624	broad.mit.edu	37	chr6	159618496	159618496	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccaaggcatgtgaaacTgctgtccactaaaatgggcc	13	7	11	10	0	0	1	0	1	0	0	1	2	1	1	3	2	3	2	3	2	5	1			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:159618496T>C	uc010kjv.3	+	1	343	c.143T>C	c.(142-144)cTg>cCg	p.L48P	FNDC1_uc010kjw.1_5'UTR	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	48	Fibronectin type-III 1.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CATGTGAAACTGCTGTCCACT	0.453													60	144					0	0	1	0	0	C	159618496	T	C	159618496	3	2	189	1	0	0	0	0	1	0	0	0	5968	1580	55	4	149	4	FNDC1	6	159618496	Missense_Mutation	SNP	T	TCGA-HT-7616-01A-11D-2253-08	716298	159618496	11496571	26	8175											
ABCA13	154664	broad.mit.edu	37	chr7	48556330	48556330	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacttttcagatatgcaacTcttccatggatgtacctgat	10	16	6	9	0	2	2	1	1	1	1	3	3	3	3	2	1	4	2	2	1	4	6			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:48556330T>C	uc003toq.2	+	51	13674	c.13650T>C	c.(13648-13650)acT>acC	p.T4550T	ABCA13_uc010kys.1_Silent_p.T1625T|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Silent_p.T280T	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4550					transport	integral to membrane	ATP binding|ATPase activity	p.T4495T(1)|p.T4550T(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GATATGCAACTCTTCCATGGA	0.378													5	228					0	0	1	0	0	C	48556330	T	C	48556330	2	2	189	1	0	0	0	0	0	0	0	1	31	1538	54	4		4	ABCA13	7	48556330	Silent	SNP	T	TCGA-HT-7616-01A-11D-2253-08		48556330	110582333	27	8176											
SLC26A5	375611	broad.mit.edu	37	chr7	103018895	103018895	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgaaaagaccactcactgCtttgacaacagttgcgttgg	13	10	9	9	1	1	3	1	2	0	1	1	3	1	3	1	1	3	3	1	1	4	3			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:103018895C>G	uc003vbz.3	-	16	2045	c.1783G>C	c.(1783-1785)Gca>Cca	p.A595P	SLC26A5_uc003vbt.2_Missense_Mutation_p.A595P|SLC26A5_uc003vbu.2_Intron|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Intron|SLC26A5_uc003vbx.3_Missense_Mutation_p.A563P	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	595	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CCACTCACTGCTTTGACAACA	0.448													13	115					0	0	1	0	0	G	103018895	C	G	103018895	3	3	189	1	0	0	0	0	1	0	0	0	14520	797	28	5	508	5	SLC26A5	7	103018895	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08	54462565	103018895	56119768	28	8177			1	18		2	2	17	N	G_C	3.307787e-05
SLC26A5	375611	broad.mit.edu	37	chr7	103018911	103018911	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgctttgacaacagttgcGttggccatatttgcatttcc	8	15	8	10	1	0	1	0	1	0	0	1	1	1	1	2	1	4	4	2	1	2	6			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:103018911G>T	uc003vbz.3	-	16	2029	c.1767C>A	c.(1765-1767)aaC>aaA	p.N589K	SLC26A5_uc003vbt.2_Missense_Mutation_p.N589K|SLC26A5_uc003vbu.2_Intron|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Intron|SLC26A5_uc003vbx.3_Missense_Mutation_p.N557K	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	589	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CAACAGTTGCGTTGGCCATAT	0.448													18	150					1.64113e-05	1.7818e-05	1	1	0	T	103018911	G	T	103018911	3	4	189	1	0	0	0	0	1	0	0	0	14520	1136	40	5	524	5	SLC26A5	7	103018911	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	16	103018911	56119752	29	8178			1	18		2	2	17	N	G_C	3.307787e-05
COG5	10466	broad.mit.edu	37	chr7	106851543	106851543	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggcttgactttatttattaCctggaaaggagatttcagtt	10	17	9	5	0	1	2	1	1	0	1	1	4	1	3	1	3	1	2	1	3	4	8			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:106851543C>T	uc003vec.2	-	20	2913	c.2388_splice	c.e20+1	p.Q796_splice	COG5_uc003ved.2_Splice_Site_p.Q775_splice|COG5_uc003vee.2_Splice_Site_p.Q796_splice	NM_006348	NP_006339	Q9UP83	COG5_HUMAN	Homo sapiens component of oligomeric golgi complex 5 (COG5), transcript variant 1, mRNA.	775					intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TTATTTATTACCTGGAAAGGA	0.468													28	67					0	0	1	0	0	T	106851543	C	T	106851543	5	4	189	1	0	0	0	0	0	0	1	0	3661	521	18	3	209	3	COG5	7	106851543	Splice_Site	SNP	C	TCGA-HT-7616-01A-11D-2253-08	3832632	106851543	52287120	30	8179											
GPR85	54329	broad.mit.edu	37	chr7	112723879	112723879	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ataacaggccaccaggtaggGgccccacaaggttagaaaca	15	4	11	11	0	0	1	0	0	0	1	0	1	0	1	4	5	2	2	4	5	5	3			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:112723879G>C	uc010ljv.2	-	1	1415	c.898C>G	c.(898-900)Ccc>Gcc	p.P300A	GPR85_uc003vgp.1_Missense_Mutation_p.P300A|GPR85_uc003vgq.2_Missense_Mutation_p.P300A|GPR85_uc010ljw.1_Missense_Mutation_p.P300A|GPR85_uc022akd.1_Missense_Mutation_p.P300A	NM_001146266	NP_061843	P60893	GPR85_HUMAN	Homo sapiens G protein-coupled receptor 85 (GPR85), transcript variant 3, mRNA.	300						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P300T(2)|p.G299C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						ACCAGGTAGGGGCCCCACAAG	0.458													3	88					0	0	1	0	0	C	112723879	G	C	112723879	3	2	189	1	0	0	0	0	1	0	0	0	6715	1232	43	5	218	5	GPR85	7	112723879	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	5872336	112723879	46414784	31	8180											
KCND2	3751	broad.mit.edu	37	chr7	119914854	119914854	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccgcttccagacgtggcaGgacaccctggaacgttaccc	9	6	10	16	3	0	1	0	0	0	1	1	3	1	3	4	3	2	3	4	3	2	2			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:119914854G>A	uc003vjj.1	+	0	1133	c.168G>A	c.(166-168)caG>caA	p.Q56Q		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	56					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					AGACGTGGCAGGACACCCTGG	0.567													10	232					0	0	1	0	0	A	119914854	G	A	119914854	2	1	189	1	0	0	0	0	0	0	0	1	8019	991	35	3		3	KCND2	7	119914854	Silent	SNP	G	TCGA-HT-7616-01A-11D-2253-08	7190975	119914854	39223809	32	8181											
LOXL2	4017	broad.mit.edu	37	chr8	23167365	23167365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcatgaacatgggccGgtcctccaggtaggtggtct	7	9	14	11	1	1	1	0	1	1	0	3	1	3	1	3	5	3	3	3	5	2	1			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr8:23167365G>A	uc003xdh.1	-	9	2035	c.1696C>T	c.(1696-1698)Cgg>Tgg	p.R566W	LOXL2_uc010lty.1_Missense_Mutation_p.R105W	NM_002318	NP_002309	Q9Y4K0	LOXL2_HUMAN	Homo sapiens lysyl oxidase-like 2 (LOXL2), mRNA.	566	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	p.R566R(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		AACATGGGCCGGTCCTCCAGG	0.657													3	68					0	0	1	0	0	A	23167365	G	A	23167365	3	1	189	1	0	0	0	0	1	0	0	0	8900	1115	39	2	648	2	LOXL2	8	23167365	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08		23167365	123196657	33	8182											
RB1CC1	9821	broad.mit.edu	37	chr8	53569559	53569559	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctttaatttcacaattttGagagtgcattatattttcca	11	20	4	6	0	2	1	1	1	1	1	3	2	3	1	1	0	1	1	1	0	4	10			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr8:53569559G>C	uc003xre.4	-	14	3388	c.2830C>G	c.(2830-2832)Caa>Gaa	p.Q944E	RB1CC1_uc003xrf.4_Missense_Mutation_p.Q944E	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	944					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ULK1-ATG13-FIP200 complex|cytosol|nucleus|pre-autophagosomal structure	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TCACAATTTTGAGAGTGCATT	0.323													19	39					0	0	1	0	0	C	53569559	G	C	53569559	3	2	189	1	0	0	0	0	1	0	0	0	13099	1299	45	5	1994	5	RB1CC1	8	53569559	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	30402194	53569559	92794463	34	8183											
DMRT3	58524	broad.mit.edu	37	chr9	977181	977181	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctgcgagaagtgcatcctCatcatcgagcggcagcgggt	9	7	13	12	4	2	1	2	0	0	1	4	3	3	1	2	2	4	2	2	2	1	0			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr9:977181C>G	uc003zgw.1	+	0	218	c.180C>G	c.(178-180)ctC>ctG	p.L60L		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	60					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGTGCATCCTCATCATCGAGC	0.667													4	41					0	0	1	0	0	G	977181	C	G	977181	2	3	189	1	0	0	0	0	0	0	0	1	4587	813	29	5		5	DMRT3	9	977181	Silent	SNP	C	TCGA-HT-7616-01A-11D-2253-08		977181	140236250	35	8184											
ASB6	140459	broad.mit.edu	37	chr9	132401579	132401580	+	Frame_Shift_Del	DEL	CT	CT	-																															tggccaggtccaaggggctaCtctcgtggatctgagccaag																										TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr9:132401579_132401580delCT	uc004byf.2	-	3	582_583	c.412_413delAG	c.(412-414)agtfs	p.S138fs	ASB6_uc004bye.1_Frame_Shift_Del_p.S63fs|ASB6_uc010myx.2_Frame_Shift_Del_p.S138fs|ASB6_uc004byg.2_Intron|ASB6_uc011mbt.2_Frame_Shift_Del_p.S59fs	NM_017873	NP_060343	Q9NWX5	ASB6_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 6 (ASB6), transcript variant 1, mRNA.	138					intracellular signal transduction	cytoplasm		p.E137K(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				CAAGGGGCTACTCTCGTGGATC	0.624													25	54	---	---	---	---						-	132401580	CT	-	132401579	7	5	189	1	0	1	0	1	0	0	0	0	1027	565	20	0	864	0	ASB6	9	132401579	Frame_Shift_Del	DEL	CT	TCGA-HT-7616-01A-11D-2253-08	131424398	132401579	8811852	36	8185											
RET	5979	broad.mit.edu	37	chr10	43622043	43622043	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactacttggaccttgcggcGtccactccatctgactccct	6	11	8	16	2	1	1	0	1	1	0	4	3	4	2	4	2	2	0	4	2	1	3			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr10:43622043G>A	uc001jal.3	+	18	3250	c.3060G>A	c.(3058-3060)gcG>gcA	p.A1020A	RET_uc001jak.1_Silent_p.A1020A|RET_uc010qez.1_Silent_p.A766A	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	1020					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	ACCTTGCGGCGTCCACTCCAT	0.552		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				176	240					0	0	1	0	0	A	43622043	G	A	43622043	2	1	189	1	0	0	0	0	0	0	0	1	13235	1132	40	1		1	RET	10	43622043	Silent	SNP	G	TCGA-HT-7616-01A-11D-2253-08		43622043	91912704	37	8186											
OR4A47	403253	broad.mit.edu	37	chr11	48511063	48511063	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agccctctcaacctgcagttCccacatgactgtggttgtct	7	12	8	14	0	2	1	1	1	2	0	4	1	3	1	3	1	3	3	3	1	1	2			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr11:48511063C>A	uc010rhx.2	+	0	719	c.719C>A	c.(718-720)tCc>tAc	p.S240Y		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						ACCTGCAGTTCCCACATGACT	0.413													13	141					4.3838e-07	4.89954e-07	1	1	0	A	48511063	C	A	48511063	3	1	189	1	0	0	0	0	1	0	0	0	11042	855	30	5	721	5	OR4A47	11	48511063	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08		48511063	86495453	38	8187											
CCDC15	80071	broad.mit.edu	37	chr11	124857585	124857585	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tagagaccagcatgttctccCcaaagaccaagatattctgc	13	9	7	12	0	2	3	0	0	2	3	3	4	2	3	4	0	2	2	4	0	4	4	rs112861775		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr11:124857585C>A	uc001qbm.4	+	7	1722	c.1463C>A	c.(1462-1464)cCc>cAc	p.P488H		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	Homo sapiens coiled-coil domain containing 15 (CCDC15), mRNA.	488						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CATGTTCTCCCCAAAGACCAA	0.403													4	189					0.150653	0.150653	1	1	0	A	124857585	C	A	124857585	3	1	189	1	0	0	0	0	1	0	0	0	2784	623	22	5	1489	5	CCDC15	11	124857585	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08	76346522	124857585	10148931	39	8188											
NELL2	4753	broad.mit.edu	37	chr12	45000951	45000951	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagatgaaatgatattcttaCccgtttcacagctgggtcca	12	12	8	9	1	2	3	1	2	1	1	3	3	3	3	2	1	2	2	2	1	4	4			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:45000951C>T	uc010skz.1	-	16	1938	c.1813_splice	c.e16+1	p.D605_splice	NELL2_uc001rof.3_Splice_Site_p.D554_splice|NELL2_uc001rog.2_Splice_Site_p.D555_splice|NELL2_uc001roh.2_Splice_Site_p.D555_splice|NELL2_uc009zkd.2_Splice_Site_p.D554_splice|NELL2_uc010sla.1_Splice_Site_p.D578_splice|NELL2_uc001roi.1_Splice_Site_p.D555_splice|NELL2_uc010slb.1_Splice_Site_p.D554_splice	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	555	EGF-like 6; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GATATTCTTACCCGTTTCACA	0.408													5	41					0	0	1	0	0	T	45000951	C	T	45000951	5	4	189	1	0	0	0	0	0	0	1	0	10334	521	18	3	810	3	NELL2	12	45000951	Splice_Site	SNP	C	TCGA-HT-7616-01A-11D-2253-08		45000951	88850944	40	8189											
NAB2	4665	broad.mit.edu	37	chr12	57487218	57487218	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgtccaaggctgacgccGccccctgctgacctgcctct	5	9	9	18	2	2	2	1	2	1	0	3	2	3	2	6	1	2	2	6	1	1	0			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:57487218G>A	uc001smz.3	+	5	1683	c.1305G>A	c.(1303-1305)ccG>ccA	p.P435P		NM_005967	NP_005958	Q15742	NAB2_HUMAN	Homo sapiens NGFI-A binding protein 2 (EGR1 binding protein 2) (NAB2), mRNA.	435					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GGCTGACGCCGCCCCCTGCTG	0.657													3	14					0	0	1	0	0	A	57487218	G	A	57487218	2	1	189	1	0	0	0	0	0	0	0	1	10132	1074	38	1		1	NAB2	12	57487218	Silent	SNP	G	TCGA-HT-7616-01A-11D-2253-08	12486267	57487218	76364677	41	8190											
TMBIM4	51643	broad.mit.edu	37	chr12	66531809	66531809	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgatgatatccaagtagagGctgatggcagctaatacgta	13	11	11	6	1	0	4	0	3	0	1	1	4	1	4	1	2	2	5	1	2	6	6			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:66531809G>T	uc009zqr.3	-	7	865	c.789C>A	c.(787-789)agC>agA	p.S263R	LLPH_uc010ssx.2_Non-coding_Transcript|TMBIM4_uc001stc.3_Missense_Mutation_p.S216R|TMBIM4_uc001std.3_Missense_Mutation_p.S185R|TMBIM4_uc001stf.3_3'UTR|TMBIM4_uc009zqs.3_3'UTR	NM_016056	NP_057140	Q9HC24	TMBI4_HUMAN	Homo sapiens transmembrane BAX inhibitor motif containing 4 (TMBIM4), mRNA.	216						integral to membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		CCAAGTAGAGGCTGATGGCAG	0.413													4	129					0.00198382	0.00206534	1	1	0	T	66531809	G	T	66531809	3	4	189	1	0	0	0	0	1	0	0	0	15979	1194	42	5	72	5	TMBIM4	12	66531809	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	9044591	66531809	67320086	42	8191											
TMEM19	55266	broad.mit.edu	37	chr12	72094645	72094645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactggcatggtggtcaacaGcccaacaaataaggcaaggc	14	5	11	11	0	1	0	1	0	0	0	1	0	1	0	1	5	3	2	1	5	5	1			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:72094645G>A	uc001sws.3	+	5	1464	c.881G>A	c.(880-882)aGc>aAc	p.S294N		NM_018279	NP_060749	Q96HH6	TMM19_HUMAN	Homo sapiens transmembrane protein 19 (TMEM19), mRNA.	294						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		GTGGTCAACAGCCCAACAAAT	0.413													8	196					0	0	1	0	0	A	72094645	G	A	72094645	3	1	189	1	0	0	0	0	1	0	0	0	16110	971	34	3	903	3	TMEM19	12	72094645	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	5562836	72094645	61757250	43	8192											
SLC5A8	160728	broad.mit.edu	37	chr12	101573832	101573832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaagctcccataagtgacGccagcgcagccattccaata	14	6	7	14	2	0	1	0	1	0	0	2	1	2	1	4	0	3	2	4	0	4	3			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:101573832G>A	uc001thz.4	-	9	1598	c.1208C>T	c.(1207-1209)gCg>gTg	p.A403V		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	403					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CATAAGTGACGCCAGCGCAGC	0.443													63	168					0	0	1	0	0	A	101573832	G	A	101573832	3	1	189	1	0	0	0	0	1	0	0	0	14671	1087	38	1	648	1	SLC5A8	12	101573832	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	29479187	101573832	32278063	44	8193											
SRRM4	84530	broad.mit.edu	37	chr12	119583235	119583235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttaccaaaacagccagccCgctcaccacctcgcgaggac	11	5	7	18	3	1	0	1	0	0	0	2	2	1	1	5	1	4	1	5	1	3	2			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:119583235C>T	uc001txa.2	+	8	1209	c.821C>T	c.(820-822)cCg>cTg	p.P274L		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	274	Ser-rich.				RNA splicing|cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						ACAGCCAGCCCGCTCACCACC	0.612													4	8					0	0	1	0	0	T	119583235	C	T	119583235	3	4	189	1	0	0	0	0	1	0	0	0	15170	652	23	2	855	2	SRRM4	12	119583235	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08	18009403	119583235	14268660	45	8194											
NPAS3	64067	broad.mit.edu	37	chr14	34269615	34269615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagggcggcggcggtggggGtggcggtggcggggggctgc	1	4	28	8	5	0	0	0	0	0	0	0	0	0	0	0	12	1	2	0	12	0	0			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr14:34269615G>A	uc001wru.3	+	11	2166	c.2102G>A	c.(2101-2103)gGt>gAt	p.G701D	NPAS3_uc001wrs.3_Missense_Mutation_p.G688D|NPAS3_uc001wrv.3_Missense_Mutation_p.G671D|NPAS3_uc001wrt.3_Missense_Mutation_p.G669D	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	701	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GGCGGTGGGGGTGGCGGTGGC	0.746													3	54					0	0	1	0	0	A	34269615	G	A	34269615	3	1	189	1	0	0	0	0	1	0	0	0	10564	1261	44	3	2203	3	NPAS3	14	34269615	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08		34269615	73079925	46	8195											
ZC3H14	79882	broad.mit.edu	37	chr14	89044394	89044394	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaagaagaattgctagcaGaagtggtccagggacaaagt	15	7	12	7	0	1	3	1	0	0	3	2	4	2	4	1	2	2	2	1	2	6	2			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr14:89044394G>A	uc001xww.3	+	8	1414	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	ZC3H14_uc010twd.2_Missense_Mutation_p.E397K|ZC3H14_uc010twe.2_Missense_Mutation_p.E397K|ZC3H14_uc001xwx.3_Missense_Mutation_p.E397K|ZC3H14_uc010twf.2_Missense_Mutation_p.E242K|ZC3H14_uc001xwy.3_Missense_Mutation_p.E363K|ZC3H14_uc010twg.2_Missense_Mutation_p.E242K|ZC3H14_uc001xxa.3_5'UTR	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	Homo sapiens zinc finger CCCH-type containing 14 (ZC3H14), transcript variant 1, mRNA.	397						cytoplasm|nuclear speck	RNA binding|protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						ATTGCTAGCAGAAGTGGTCCA	0.388													43	62					0	0	1	0	0	A	89044394	G	A	89044394	3	1	189	1	0	0	0	0	1	0	0	0	17563	943	33	3	1223	3	ZC3H14	14	89044394	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	54774779	89044394	18305146	47	8196											
AHNAK2	113146	broad.mit.edu	37	chr14	105409805	105409805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcggcctccacctttggcgCggtcacatccactgatgcct	5	10	10	16	3	1	1	1	1	0	0	4	1	3	1	5	3	1	0	5	3	0	1			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr14:105409805C>T	uc010axc.1	-	6	12103	c.11983G>A	c.(11983-11985)Gcg>Acg	p.A3995T	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.A3895T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3995						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACCTTTGGCGCGGTCACATCC	0.612													118	198					0	0	1	0	0	T	105409805	C	T	105409805	3	4	189	1	0	0	0	0	1	0	0	0	415	768	27	1	5408	1	AHNAK2	14	105409805	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08	16365411	105409805	1939735	48	8197											
SLCO3A1	28232	broad.mit.edu	37	chr15	92663795	92663796	+	Frame_Shift_Ins	INS	-	-	T																															tggtggctggcttcgctgccINStttttggggaagtacctgga																								rs34062402		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr15:92663795_92663796insT	uc002bqx.2	+	4	1311_1312	c.1110_1111insT	c.(1108-1113)gcctttfs	p.A370fs	SLCO3A1_uc002bqy.2_Frame_Shift_Ins_p.A370fs|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Frame_Shift_Ins_p.A312fs	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	370					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	p.A369V(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GCTTCGCTGCCTTTTTGGGGAA	0.584													47	358	---	---	---	---						T	92663796	-	T	92663795	7	5	189	1	0	1	1	0	0	0	0	0	14728	668	24	0	1128	0	SLCO3A1	15	92663795	Frame_Shift_Ins	INS	-	TCGA-HT-7616-01A-11D-2253-08		92663795	9867597	49	8198											
CCDC135	84229	broad.mit.edu	37	chr16	57732824	57732824	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcctacaaaaccaacacacCcaaggaggaacacctgctgc	15	5	6	15	0	0	0	0	0	0	0	1	2	1	2	4	2	6	1	4	2	6	2			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr16:57732824C>G	uc002emi.3	+	2	355	c.266C>G	c.(265-267)cCc>cGc	p.P89R	CCDC135_uc002emj.3_Missense_Mutation_p.P89R|CCDC135_uc002emk.3_Missense_Mutation_p.P89R	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	89						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						ACCAACACACCCAAGGAGGAA	0.577													43	227					0	0	1	0	0	G	57732824	C	G	57732824	3	3	189	1	0	0	0	0	1	0	0	0	2769	623	22	5	272	5	CCDC135	16	57732824	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08		57732824	32621929	50	8199											
LRRC37A2	474170	broad.mit.edu	37	chr17	45127107	45127107	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctacaccaagccttcgttcaCccaagagcataaggcagcag	13	6	8	14	1	1	1	1	0	0	1	2	1	1	1	3	1	4	4	3	1	4	4	rs147409399	by1000genomes	TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr17:45127107C>G	uc010wkj.1	+	1	659	c.305C>G	c.(304-306)aCc>aGc	p.T102S	ARL17_uc021tzb.1_Intron|DQ597730_uc010wkl.2_Non-coding_Transcript			A6NM11	L37A2_HUMAN	Homo sapiens cDNA FLJ42521 fis, clone BRACE3000973.	1238						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		CCTTCGTTCACCCAAGAGCAT	0.592													4	78					0	0	1	0	0	G	45127107	C	G	45127107	3	3	189	1	0	0	0	0	1	0	0	0	8992	522	18	5		5	LRRC37A2	17	45127107	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08		45127107	36068103	51	8200											
APPBP2	10513	broad.mit.edu	37	chr17	58571849	58571849	+	Frame_Shift_Del	DEL	G	G	-																															aaaacaaagccaacctgaatGgctttttcctttactgcagc																										TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr17:58571849delG	uc002iys.1	-	2	645	c.357delC	c.(355-357)gccfs	p.A119fs	APPBP2_uc010ddl.1_Frame_Shift_Del_p.A48fs	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Homo sapiens amyloid beta precursor protein (cytoplasmic tail) binding protein 2 (APPBP2), mRNA.	119					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			CAACCTGAATGGCTTTTTCCT	0.403													32	78	---	---	---	---						-	58571849	G	-	58571849	7	5	189	1	0	1	0	1	0	0	0	0	816	1335	47	0	1444	0	APPBP2	17	58571849	Frame_Shift_Del	DEL	G	TCGA-HT-7616-01A-11D-2253-08	13444742	58571849	22623361	52	8201											
CANT1	124583	broad.mit.edu	37	chr17	76993313	76993313	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgacagggtcaggtagcccTttttcaggtaactgaaccag	10	10	11	10	0	2	2	2	2	0	0	2	2	2	2	2	3	3	2	2	3	3	4			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr17:76993313T>C	uc002jwj.3	-	1	887	c.392A>G	c.(391-393)aAg>aGg	p.K131R	CANT1_uc002jwn.3_Missense_Mutation_p.K131R|CANT1_uc002jwk.3_Missense_Mutation_p.K131R|CANT1_uc002jwl.2_Non-coding_Transcript	NM_138793	NP_620148	Q8WVQ1	CANT1_HUMAN	Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 1, mRNA.	131					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi cisterna membrane|endoplasmic reticulum membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CAGGTAGCCCTTTTTCAGGTA	0.577			T	ETV4	prostate								4	370					0	0	1	0	0	C	76993313	T	C	76993313	3	2	189	1	0	0	0	0	1	0	0	0	2617	1609	56	4	825	4	CANT1	17	76993313	Missense_Mutation	SNP	T	TCGA-HT-7616-01A-11D-2253-08	18421464	76993313	4201897	53	8202											
SLC7A9	11136	broad.mit.edu	37	chr19	33334813	33334813	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcctgacgctgatgtaagaaAgcactttgagcatgtgaccc	11	9	11	10	1	0	5	0	4	0	1	0	5	0	5	2	0	2	4	2	0	2	2			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr19:33334813A>T	uc002ntv.4	-	9	1139	c.1022T>A	c.(1021-1023)cTt>cAt	p.L341H	SLC7A9_uc002ntt.4_Intron|SLC7A9_uc002ntu.4_Missense_Mutation_p.L341H|SLC7A9_uc021usa.1_Missense_Mutation_p.L341H|SLC7A9_uc002ntw.4_Missense_Mutation_p.L132H	NM_001126335	NP_055085	P82251	BAT1_HUMAN	Homo sapiens solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 (SLC7A9), transcript variant 2, mRNA.	341					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GATGTAAGAAAGCACTTTGAG	0.562													21	30					0	0	1	0	0	T	33334813	A	T	33334813	3	4	189	1	0	0	0	0	1	0	0	0	14705	72	3	5	457	5	SLC7A9	19	33334813	Missense_Mutation	SNP	A	TCGA-HT-7616-01A-11D-2253-08		33334813	25794170	54	8203											
CAPNS1	826	broad.mit.edu	37	chr19	36631958	36631958	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggcggcggcggcggcggCgggggaggcgggggcctggg	3	1	28	9	7	0	0	0	0	0	0	0	1	0	1	1	12	0	0	1	12	1	0			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr19:36631958C>G	uc002odi.1	+	1	202	c.45C>G	c.(43-45)ggC>ggG	p.G15G	CAPNS1_uc002odk.3_Silent_p.G15G|CAPNS1_uc002odj.3_Silent_p.G15G|CAPNS1_uc002odl.3_Silent_p.G15G	NM_001749	NP_001740	P04632	CPNS1_HUMAN	Homo sapiens calpain, small subunit 1 (CAPNS1), transcript variant 1, mRNA.	15	Gly-rich (hydrophobic).|Poly-Gly.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			gcggcggcggcgggggaggcg	0.736													3	17					0	0	1	0	0	G	36631958	C	G	36631958	2	3	189	1	0	0	0	0	0	0	0	1	2633	755	27	5		5	CAPNS1	19	36631958	Silent	SNP	C	TCGA-HT-7616-01A-11D-2253-08	3297145	36631958	22497025	55	8204											
CIC	23152	broad.mit.edu	37	chr19	42795390	42795390	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggctgggggaatcaccCaggtacagtacatcctgccc	10	6	12	13	0	1	0	1	0	0	0	2	1	2	1	3	4	3	4	3	4	4	2			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr19:42795390C>T	uc002otf.1	+	9	2510	c.2470C>T	c.(2470-2472)Cag>Tag	p.Q824*		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	824	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGGAATCACCCAGGTACAGTA	0.692			"Mis, F, S"		oligodendroglioma								4	16					0	0	1	0	0	T	42795390	C	T	42795390	4	4	189	1	0	0	0	0	0	1	0	0	3424	595	21	3	2508	3	CIC	19	42795390	Nonsense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08	6163432	42795390	16333593	56	8205											
PPFIA3	8541	broad.mit.edu	37	chr19	49651494	49651494	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagctccggggccaactcaAgatggtggacagctttcaca	10	7	13	11	1	2	1	2	0	0	1	3	3	3	3	2	5	3	2	2	5	2	1			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr19:49651494A>G	uc002pmr.3	+	23	3322	c.2990A>G	c.(2989-2991)aAg>aGg	p.K997R	PPFIA3_uc010yai.2_Non-coding_Transcript|PPFIA3_uc002pms.3_Missense_Mutation_p.K856R|PPFIA3_uc002pmt.3_Missense_Mutation_p.K136R|PPFIA3_uc002pmu.1_Missense_Mutation_p.K46R	NM_003660	NP_003651	O75145	LIPA3_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 (PPFIA3), mRNA.	997	SAM 2.					cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GGCCAACTCAAGATGGTGGAC	0.582													19	15					0	0	1	0	0	G	49651494	A	G	49651494	3	3	189	1	0	0	0	0	1	0	0	0	12311	72	3	4	3080	4	PPFIA3	19	49651494	Missense_Mutation	SNP	A	TCGA-HT-7616-01A-11D-2253-08	6856104	49651494	9477489	57	8206											
RSPO4	343637	broad.mit.edu	37	chr20	944643	944643	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctggcaggtggctgccTcctcatgcccagcccggcca	5	6	12	18	1	1	0	1	0	0	0	2	0	2	0	6	4	3	3	6	4	0	0			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr20:944643T>C	uc002wej.3	-	3	630	c.530A>G	c.(529-531)gAg>gGg	p.E177G	RSPO4_uc002wek.3_Intron	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN	Homo sapiens R-spondin 4 (RSPO4), transcript variant 1, mRNA.	177	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GGTGGCTGCCTCCTCATGCCC	0.672													8	79					0	0	1	0	0	C	944643	T	C	944643	3	2	189	1	0	0	0	0	1	0	0	0	13712	1551	54	4	182	4	RSPO4	20	944643	Missense_Mutation	SNP	T	TCGA-HT-7616-01A-11D-2253-08		944643	62080877	58	8207											
STMN3	50861	broad.mit.edu	37	chr20	62273610	62273610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcacctcgcgctcgtgctCgcgccgctccgccagctgct	3	7	11	20	7	0	0	0	0	0	0	4	0	1	0	4	0	4	6	4	0	0	0			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr20:62273610C>T	uc002yfr.1	-	3	416	c.334G>A	c.(334-336)Gag>Aag	p.E112K	STMN3_uc021wgd.1_Non-coding_Transcript	NM_015894	NP_056978	Q9NZ72	STMN3_HUMAN	Homo sapiens stathmin-like 3 (STMN3), mRNA.	112					cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of Rac GTPase activity|regulation of cytoskeleton organization	cytoplasm	protein domain specific binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			CGCTCGTGCTCGCGCCGCTCC	0.692													6	25					0	0	1	0	0	T	62273610	C	T	62273610	3	4	189	1	0	0	0	0	1	0	0	0	15309	893	31	2	216	2	STMN3	20	62273610	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08	61328967	62273610	751910	59	8208											
MX2	4600	broad.mit.edu	37	chr21	42749752	42749752	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacagccagtacgagcagAaggtgcgcccctgcattgac	10	7	12	12	2	0	2	0	1	0	1	0	3	0	2	3	1	6	4	3	1	3	3			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr21:42749752A>T	uc002yzf.1	+	2	390	c.286A>T	c.(286-288)Aag>Tag	p.K96*	MX2_uc011aer.1_Non-coding_Transcript	NM_002463	NP_002454	P20592	MX2_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.	96					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				GTACGAGCAGAAGGTGCGCCC	0.627													27	76					0	0	1	0	0	T	42749752	A	T	42749752	4	4	189	1	0	0	0	0	0	1	0	0	9998	247	9	5	292	5	MX2	21	42749752	Nonsense_Mutation	SNP	A	TCGA-HT-7616-01A-11D-2253-08		42749752	5380143	60	8209											
COL18A1	80781	broad.mit.edu	37	chr21	46924342	46924342	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccacagggggagaagggaGaccgaggtgatgcaggacag	12	3	19	7	1	0	3	0	1	0	2	1	7	1	4	2	5	1	1	2	5	1	0			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr21:46924342G>T	uc002zhi.3	+	32	3301	c.3280G>T	c.(3280-3282)Gac>Tac	p.D1094Y	COL18A1_uc002zhg.3_Missense_Mutation_p.D914Y|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.3_5'UTR	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	1329	Triple-helical region 4 (COL4).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGAGAAGGGAGACCGAGGTGA	0.706													3	32					0.000602214	0.000644624	1	1	0	T	46924342	G	T	46924342	3	4	189	1	0	0	0	0	1	0	0	0	3675	942	33	5	4229	5	COL18A1	21	46924342	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	4174590	46924342	1205553	61	8210											
IGLL1	3543	broad.mit.edu	37	chr22	23922291	23922293	+	In_Frame_Del	DEL	CAG	CAG	-																															tgggttaccacggccagaccCagcagcagcaggggccagcg																										TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr22:23922291_23922293delCAG	uc002zxd.3	-	0	203_205	c.85_87delCTG	c.(85-87)ctgdel	p.L29del	IGLL1_uc002zxe.3_In_Frame_Del_p.L29del	NM_020070	NP_064455	P15814	IGLL1_HUMAN	Homo sapiens immunoglobulin lambda-like polypeptide 1 (IGLL1), transcript variant 1, mRNA.	29					immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						CGGCCAGACCCAGCAGCAGCAGG	0.719													3	4	---	---	---	---						-	23922293	CAG	-	23922291	7	5	189	1	0	1	0	1	0	0	0	0	7593	581	21	0	566	0	IGLL1	22	23922291	In_Frame_Del	DEL	CAG	TCGA-HT-7616-01A-11D-2253-08		23922291	27382275	62	8211											
MXRA5	25878	broad.mit.edu	37	chrX	3241681	3241681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagagcctttgcacctgggCgtctgcctcttttggatggc	6	12	12	11	1	2	1	0	0	2	1	2	2	2	2	3	3	3	1	3	3	1	3			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chrX:3241681C>T	uc004crg.4	-	4	2202	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	682						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGCACCTGGGCGTCTGCCTCT	0.532													24	18					0	0	1	0	0	T	3241681	C	T	3241681	3	4	189	1	0	0	0	0	1	0	0	0	10003	768	27	1	6453	1	MXRA5	23	3241681	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08		3241681	152028879	63	8212											
RS1	6247	broad.mit.edu	37	chrX	18665417	18665417	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtccggtgtgacctcccCtgactcgaaacccagaggct	7	8	11	15	2	0	3	0	2	0	1	3	4	2	3	5	3	1	1	5	3	1	0			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chrX:18665417C>G	uc004cyo.3	-	3	255	c.220G>C	c.(220-222)Ggg>Cgg	p.G74R	CDKL5_uc004cym.3_Intron|CDKL5_uc004cyn.3_Intron	NM_000330	NP_000321	O15537	XLRS1_HUMAN	Homo sapiens retinoschisin 1 (RS1), mRNA.	74	F5/8 type C.		G -> V (in XLRS1).		cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					GTGACCTCCCCTGACTCGAAA	0.507													15	46					0	0	1	0	0	G	18665417	C	G	18665417	3	3	189	1	0	0	0	0	1	0	0	0	13693	681	24	5	466	5	RS1	23	18665417	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08	15423736	18665417	136605143	64	8213											
FUBP1	8880	broad.mit.edu	37	chr1	78429792	78429792	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatttctgcagcatgttgAcatcggtctggaggtcctgt	8	14	11	8	1	2	1	0	1	2	0	4	2	3	2	1	3	2	3	1	3	1	3			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr1:78429792A>T	uc001dii.3	-	11	1085	c.996T>A	c.(994-996)tgT>tgA	p.C332*	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Nonsense_Mutation_p.C353*	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	332	KH 3.				transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CAGCATGTTGACATCGGTCTG	0.328			"F, N"		oligodendroglioma								21	66					0	0	1	0	0	T	78429792	A	T	78429792	4	4	190	1	0	0	0	0	0	1	0	0	6092	273	10	5	974	5	FUBP1	1	78429792	Nonsense_Mutation	SNP	A	TCGA-HT-7620-01A-11D-2253-08		78429792	170820829	1	8214											
CFH	3075	broad.mit.edu	37	chr1	196648911	196648911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatctggatggcgtccgttgCcttcatgtgaaggtaatgtt	8	14	12	7	2	2	1	1	1	1	0	3	2	3	2	2	3	1	3	2	3	3	4			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr1:196648911C>T	uc001gtj.4	+	5	1018	c.778C>T	c.(778-780)Cct>Tct	p.P260S	CFH_uc001gti.4_Missense_Mutation_p.P260S|CFH_uc009wyw.3_Missense_Mutation_p.P260S|CFH_uc009wyx.3_Missense_Mutation_p.P196S	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	260	Sushi 4.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GCGTCCGTTGCCTTCATGTGA	0.294													5	28					0	0	1	0	0	T	196648911	C	T	196648911	3	4	190	1	0	0	0	0	1	0	0	0	3283	739	26	3	800	3	CFH	1	196648911	Missense_Mutation	SNP	C	TCGA-HT-7620-01A-11D-2253-08	118219119	196648911	52601710	2	8215											
CNST	163882	broad.mit.edu	37	chr1	246810446	246810446	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcttcatctttagagagtAaaacttgtctcggcacagag	11	14	8	8	1	4	2	1	0	3	2	5	3	4	2	0	1	1	2	0	1	3	6			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr1:246810446A>G	uc001ibp.3	+	8	1321	c.943A>G	c.(943-945)Aaa>Gaa	p.K315E	CNST_uc001ibo.4_Missense_Mutation_p.K315E	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	Homo sapiens consortin, connexin sorting protein (CNST), transcript variant 1, mRNA.	315					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TTTAGAGAGTAAAACTTGTCT	0.388											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	40					0	0	1	0	0	G	246810446	A	G	246810446	3	3	190	1	0	0	0	0	1	0	0	0	3634	363	13	3	973	3	CNST	1	246810446	Missense_Mutation	SNP	A	TCGA-HT-7620-01A-11D-2253-08	50161535	246810446	2440175	3	8216											
CCT7	10574	broad.mit.edu	37	chr2	73478419	73478419	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaagtacctgcgggattaCtcaaggactattccaggaaa	13	9	9	10	1	1	0	1	0	0	0	3	3	3	3	3	3	3	1	3	3	6	4			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr2:73478419C>G	uc002siz.3	+	10	1412	c.1269C>G	c.(1267-1269)taC>taG	p.Y423*	CCT7_uc010yrf.2_Nonsense_Mutation_p.Y379*|CCT7_uc010yrh.2_Nonsense_Mutation_p.Y295*|CCT7_uc010yrg.2_Nonsense_Mutation_p.Y323*|CCT7_uc010yri.2_Nonsense_Mutation_p.Y336*|CCT7_uc002sja.3_Nonsense_Mutation_p.Y219*	NM_006429	NP_001159757	Q99832	TCPH_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 7 (eta) (CCT7), transcript variant 1, mRNA.	423					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						TGCGGGATTACTCAAGGACTA	0.517													24	81					0	0	1	0	0	G	73478419	C	G	73478419	4	3	190	1	0	0	0	0	0	1	0	0	2959	576	20	5	1311	5	CCT7	2	73478419	Nonsense_Mutation	SNP	C	TCGA-HT-7620-01A-11D-2253-08		73478419	169720954	4	8217											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								13	55					0	0	1	0	0	T	209113112	C	T	209113112	3	4	190	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7620-01A-11D-2253-08	135634693	209113112	34086261	5	8218											
PIK3CA	5290	broad.mit.edu	37	chr3	178916938	178916940	+	In_Frame_Del	DEL	GAA	GAA	-																															ttgaaccagtaggcaaccgtGaagaaaagatcctcaatcga																										TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr3:178916938_178916940delGAA	uc003fjk.3	+	1	482_484	c.325_327delGAA	c.(325-327)gaadel	p.E110del		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	110					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E109del(6)|p.E110K(4)|p.G106_R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGGCAACCGTGAAGAAAAGATCC	0.34		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			9	38	---	---	---	---						-	178916940	GAA	-	178916938	7	5	190	1	0	1	0	1	0	0	0	0	11913	1291	45	0	327	0	PIK3CA	3	178916938	In_Frame_Del	DEL	GAA	TCGA-HT-7620-01A-11D-2253-08		178916938	19105492	6	8219											
KLHL5	51088	broad.mit.edu	37	chr4	39088270	39088270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcacttcttacttgggtcCgtcatgatttggaacagaga	10	13	10	8	1	2	2	1	1	1	1	3	4	3	3	1	2	3	1	1	2	2	4			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr4:39088270C>T	uc003gtr.2	+	4	1457	c.1174C>T	c.(1174-1176)Cgt>Tgt	p.R392C	KLHL5_uc003gtp.3_Missense_Mutation_p.R346C|KLHL5_uc003gtq.3_Missense_Mutation_p.R205C|KLHL5_uc003gts.3_Missense_Mutation_p.R392C|KLHL5_uc003gtt.3_Missense_Mutation_p.R331C	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN	Homo sapiens kelch-like 5 (Drosophila) (KLHL5), transcript variant 1, mRNA.	392						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TACTTGGGTCCGTCATGATTT	0.388													5	42					0	0	1	0	0	T	39088270	C	T	39088270	3	4	190	1	0	0	0	0	1	0	0	0	8392	652	23	2	1192	2	KLHL5	4	39088270	Missense_Mutation	SNP	C	TCGA-HT-7620-01A-11D-2253-08		39088270	152066006	7	8220											
CAMK2D	817	broad.mit.edu	37	chr4	114436309	114436309	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attttattgatgaggtctttGgcttcaggagtcaccgtgtc	7	16	11	7	1	3	2	2	2	1	0	4	3	3	3	1	3	0	1	1	3	1	5			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr4:114436309G>A	uc003ibi.3	-	9	1594	c.735C>T	c.(733-735)gcC>gcT	p.A245A	CAMK2D_uc003ibj.3_Silent_p.A245A|CAMK2D_uc003ibk.3_Silent_p.A245A|CAMK2D_uc003ibo.4_Silent_p.A245A|CAMK2D_uc003ibm.2_Silent_p.A245A|CAMK2D_uc003ibn.2_Silent_p.A245A|CAMK2D_uc003ibl.2_Silent_p.A245A	NM_001221	NP_001212	Q13557	KCC2D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II delta (CAMK2D), transcript variant 3, mRNA.	245	Protein kinase.				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TGAGGTCTTTGGCTTCAGGAG	0.398													15	64					0	0	1	0	0	A	114436309	G	A	114436309	2	1	190	1	0	0	0	0	0	0	0	1	2601	1335	47	3		3	CAMK2D	4	114436309	Silent	SNP	G	TCGA-HT-7620-01A-11D-2253-08	75348039	114436309	76717967	8	8221											
SRD5A1	6715	broad.mit.edu	37	chr5	6663021	6663021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctggtctgtccaaggcGcggcttttgctttcttcacg	4	13	11	13	3	3	0	1	0	2	0	4	0	4	0	2	3	2	3	2	3	1	4			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr5:6663021G>A	uc003jdw.3	+	3	845	c.655G>A	c.(655-657)Gcg>Acg	p.A219T	SRD5A1_uc011cml.2_Non-coding_Transcript|SRD5A1_uc011cmm.2_Missense_Mutation_p.A172T	NM_001047	NP_001038	P18405	S5A1_HUMAN	Homo sapiens steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) (SRD5A1), mRNA.	219					androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)	TGTCCAAGGCGCGGCTTTTGC	0.408													22	69					0	0	1	0	0	A	6663021	G	A	6663021	3	1	190	1	0	0	0	0	1	0	0	0	15137	1087	38	1	669	1	SRD5A1	5	6663021	Missense_Mutation	SNP	G	TCGA-HT-7620-01A-11D-2253-08		6663021	174252239	9	8222											
GRIA1	2890	broad.mit.edu	37	chr5	153175109	153175109	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctgaaaagcaaatggtggTacgataaaggggaatgtgga	16	7	15	3	1	0	1	0	1	0	0	0	4	0	3	0	5	3	3	0	5	7	2			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr5:153175109T>C	uc011dcy.2	+	13	2401	c.2374T>C	c.(2374-2376)Tac>Cac	p.Y792H	GRIA1_uc003lva.4_Missense_Mutation_p.Y782H|GRIA1_uc003luy.4_Intron|GRIA1_uc003luz.4_Missense_Mutation_p.Y687H|GRIA1_uc011dcv.2_Intron|GRIA1_uc011dcw.2_Intron|GRIA1_uc011dcx.2_Intron|GRIA1_uc011dcz.2_Intron	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	782					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CAAATGGTGGTACGATAAAGG	0.473													8	34					0	0	1	0	0	C	153175109	T	C	153175109	3	2	190	1	0	0	0	0	1	0	0	0	6767	1638	57	3	2517	3	GRIA1	5	153175109	Missense_Mutation	SNP	T	TCGA-HT-7620-01A-11D-2253-08	146512088	153175109	27740151	10	8223											
SLC34A1	6569	broad.mit.edu	37	chr5	176825109	176825109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacatgggacttcctgcctcGctggatgcactccctgaagc	7	9	11	14	1	0	1	0	1	0	0	3	4	2	3	3	2	3	2	3	2	1	1			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr5:176825109G>A	uc003mgk.4	+	12	1846	c.1742G>A	c.(1741-1743)cGc>cAc	p.R581H		NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 1 (SLC34A1), transcript variant 1, mRNA.	581					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCCTGCCTCGCTGGATGCAC	0.667													13	53					0	0	1	0	0	A	176825109	G	A	176825109	3	1	190	1	0	0	0	0	1	0	0	0	14567	1087	38	1	1879	1	SLC34A1	5	176825109	Missense_Mutation	SNP	G	TCGA-HT-7620-01A-11D-2253-08	23650000	176825109	4090151	11	8224											
SCAND3	114821	broad.mit.edu	37	chr6	28540669	28540669	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agactttctcgatgaatgaaGcaatgtgttgttttacattc	11	16	8	6	1	1	3	0	2	1	1	3	4	1	3	0	0	2	3	0	0	4	5			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr6:28540669G>A	uc003nlo.3	-	3	3615	c.2997C>T	c.(2995-2997)tgC>tgT	p.C999C		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	999					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						gatgaatgaagcaatgtgttg	0.328													13	67					0	0	1	0	0	A	28540669	G	A	28540669	2	1	190	1	0	0	0	0	0	0	0	1	13876	963	34	3		3	SCAND3	6	28540669	Silent	SNP	G	TCGA-HT-7620-01A-11D-2253-08		28540669	142574398	12	8225											
TFAP2B	7021	broad.mit.edu	37	chr6	50807962	50807962	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatttgaaccggcagcacaCagacccgagtgacctgcact	11	7	10	13	2	0	3	0	2	0	1	0	4	0	3	3	1	3	4	3	1	2	2			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr6:50807962C>A	uc003pag.3	+	5	1200	c.1034C>A	c.(1033-1035)aCa>aAa	p.T345K		NM_003221	NP_003212	Q92481	AP2B_HUMAN	Homo sapiens transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (TFAP2B), mRNA.	345					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					CGGCAGCACACAGACCCGAGT	0.517													12	72					7.03913e-09	7.25243e-09	1	1	0	A	50807962	C	A	50807962	3	1	190	1	0	0	0	0	1	0	0	0	15785	478	17	5	1056	5	TFAP2B	6	50807962	Missense_Mutation	SNP	C	TCGA-HT-7620-01A-11D-2253-08	22267293	50807962	120307105	13	8226											
LAMA2	3908	broad.mit.edu	37	chr6	129823889	129823889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaacagtcacattgcaattgCatttgatgacaccaaagtta	16	11	6	8	0	1	2	1	2	0	0	1	2	1	2	1	0	3	3	1	0	4	4			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr6:129823889C>T	uc021zfb.1	+	58	8435	c.8330C>T	c.(8329-8331)gCa>gTa	p.A2777V	LAMA2_uc003qbn.3_Missense_Mutation_p.A2775V|LAMA2_uc003qbo.3_Missense_Mutation_p.A2771V|BC035400_uc003qbq.3_Non-coding_Transcript	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2777	Laminin G-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATTGCAATTGCATTTGATGAC	0.408													6	36					0	0	1	0	0	T	129823889	C	T	129823889	3	4	190	1	0	0	0	0	1	0	0	0	8606	710	25	3	8564	3	LAMA2	6	129823889	Missense_Mutation	SNP	C	TCGA-HT-7620-01A-11D-2253-08	79015927	129823889	41291178	14	8227											
ANKRD30A	91074	broad.mit.edu	37	chr10	37419199	37419199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgccgatataaatctcGtagatgtgtatggcaacacg	11	11	11	8	3	1	1	0	0	1	1	2	2	1	1	1	2	2	3	1	2	6	4			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr10:37419199G>A	uc021ppc.1	+	2	334	c.235G>A	c.(235-237)Gta>Ata	p.V79I	ANKRD30A_uc001iza.1_Missense_Mutation_p.V79I	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	135						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.V79I(2)|p.L78L(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TATAAATCTCGTAGATGTGTA	0.423													7	36					0	0	1	0	0	A	37419199	G	A	37419199	3	1	190	1	0	0	0	0	1	0	0	0	658	1145	40	1	245	1	ANKRD30A	10	37419199	Missense_Mutation	SNP	G	TCGA-HT-7620-01A-11D-2253-08		37419199	98115548	15	8228											
FOXM1	2305	broad.mit.edu	37	chr12	2968215	2968215	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctactttggctgggggCgtgagcctccaggattcagg	5	9	14	13	1	1	1	1	1	0	0	2	2	2	2	4	5	2	1	4	5	1	3			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr12:2968215C>T	uc001qlf.3	-	8	2164	c.1881G>A	c.(1879-1881)acG>acA	p.T627T	LOC100507424_uc021qtc.1_Intron|FOXM1_uc001qle.3_Silent_p.T665T|FOXM1_uc009zea.3_Silent_p.T612T|FOXM1_uc009zeb.3_Silent_p.T611T|FOXM1_uc001qlg.3_Silent_p.T612T	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	Homo sapiens forkhead box M1 (FOXM1), transcript variant 2, mRNA.	627					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of Ras protein signal transduction|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TGGCTGGGGGCGTGAGCCTCC	0.592													18	83					0	0	1	0	0	T	2968215	C	T	2968215	2	4	190	1	0	0	0	0	0	0	0	1	6018	755	27	1		1	FOXM1	12	2968215	Silent	SNP	C	TCGA-HT-7620-01A-11D-2253-08		2968215	130883680	16	8229											
USP30	84749	broad.mit.edu	37	chr12	109519737	109519737	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcttcttctcatgctgtaGggtcacccattgaccctgga	6	15	8	12	0	4	1	2	1	3	0	5	2	4	2	2	2	1	2	2	2	1	5			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr12:109519737G>A	uc010sxi.2	+	9	885	c.781_splice	c.e9-1	p.G261_splice	USP30_uc001tnu.4_Splice_Site_p.G230_splice|USP30_uc001tnw.4_5'Flank	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	Homo sapiens ubiquitin specific peptidase 30 (USP30), mRNA.	261					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						TCATGCTGTAGGGTCACCCAT	0.428													25	109					0	0	1	0	0	A	109519737	G	A	109519737	5	1	190	1	0	0	0	0	0	0	1	0	17058	1014	35	3	814	3	USP30	12	109519737	Splice_Site	SNP	G	TCGA-HT-7620-01A-11D-2253-08	106551522	109519737	24332158	17	8230											
CYP1A2	1544	broad.mit.edu	37	chr15	75042314	75042314	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acggggacgtcctgcagatcCgcattggctccacgcccgtg	6	7	13	15	5	0	1	0	0	0	1	3	2	3	2	4	3	1	3	4	3	0	1			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr15:75042314C>T	uc002ayr.1	+	1	299	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	79				R -> S (in Ref. 2; AAA35738).	alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CCTGCAGATCCGCATTGGCTC	0.672													12	32					0	0	1	0	0	T	75042314	C	T	75042314	3	4	190	1	0	0	0	0	1	0	0	0	4150	652	23	2	237	2	CYP1A2	15	75042314	Missense_Mutation	SNP	C	TCGA-HT-7620-01A-11D-2253-08		75042314	27489078	18	8231											
USP31	57478	broad.mit.edu	37	chr16	23080559	23080559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgacactggagttcaatctgCgggtgtccgattcgtctttg	6	13	12	10	4	3	0	1	0	2	0	5	3	4	1	1	2	1	1	1	2	1	3			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr16:23080559C>T	uc002dll.3	-	15	2867	c.2867G>A	c.(2866-2868)cGc>cAc	p.R956H	USP31_uc002dlk.3_Missense_Mutation_p.R228H|USP31_uc010vca.2_Missense_Mutation_p.R259H|USP31_uc010bxm.3_Missense_Mutation_p.R244H	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	956	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GTTCAATCTGCGGGTGTCCGA	0.552													12	113					0	0	1	0	0	T	23080559	C	T	23080559	3	4	190	1	0	0	0	0	1	0	0	0	17059	768	27	1	1195	1	USP31	16	23080559	Missense_Mutation	SNP	C	TCGA-HT-7620-01A-11D-2253-08		23080559	67274194	19	8232											
PRSS54	221191	broad.mit.edu	37	chr16	58324928	58324928	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggatgcagccgaaagccagGtgtgtgtactgggagtcctg	9	8	16	8	1	0	0	0	0	0	0	1	3	1	2	3	3	4	2	3	3	2	1			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr16:58324928G>T	uc002enf.3	-	3	593	c.198C>A	c.(196-198)caC>caA	p.H66Q	PRSS54_uc002eng.3_Missense_Mutation_p.H66Q|PRSS54_uc010vie.2_Intron	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	Homo sapiens protease, serine, 54 (PRSS54), mRNA.	66	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CGAAAGCCAGGTGTGTGTACT	0.607													12	59					1.02788e-11	1.09213e-11	1	1	0	T	58324928	G	T	58324928	3	4	190	1	0	0	0	0	1	0	0	0	12633	1252	44	5	1005	5	PRSS54	16	58324928	Missense_Mutation	SNP	G	TCGA-HT-7620-01A-11D-2253-08	35244369	58324928	32029825	20	8233											
YBX2	51087	broad.mit.edu	37	chr17	7197580	7197581	+	Frame_Shift_Ins	INS	-	-	G																															tgtccgcctgactccgggccINSgggggggcgggggttcccga																										TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr17:7197580_7197581insG	uc002gfq.2	-	0	296_297	c.239_240insC	c.(238-240)ccgfs	p.P80fs		NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN	Homo sapiens Y box binding protein 2 (YBX2), mRNA.	80					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GACTCCGGGCCGGGGGGGCGGG	0.802													2	4	---	---	---	---						G	7197581	-	G	7197580	7	5	190	1	0	1	1	0	0	0	0	0	17467	639	23	0	886	0	YBX2	17	7197580	Frame_Shift_Ins	INS	-	TCGA-HT-7620-01A-11D-2253-08		7197580	73997630	21	8234											
ZNF709	163051	broad.mit.edu	37	chr19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggtttctctccagtgtgaGttctttcatgcattcgaaag	7	15	11	8	1	3	1	1	1	2	0	6	2	4	1	1	2	1	3	1	2	1	4			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr19:12575498G>A	uc002mtv.4	-	3	1399	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	ZNF709_uc002mtw.4_Missense_Mutation_p.T381I|ZNF709_uc002mtx.4_Missense_Mutation_p.T413I	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T413I(2)|p.R412I(1)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418													4	57					0	0	1	0	0	A	12575498	G	A	12575498	3	1	190	1	0	0	0	0	1	0	0	0	18110	1029	36	3	691	3	ZNF709	19	12575498	Missense_Mutation	SNP	G	TCGA-HT-7620-01A-11D-2253-08		12575498	46553485	22	8235											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56704396	56704396	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagggtcctccctgacccCatgagagtgtccaatttgca	8	10	10	13	0	0	2	0	2	0	1	3	3	3	2	5	1	2	2	5	1	1	1			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr19:56704396C>T	uc010ygh.2	-	0	26	c.26G>A	c.(25-27)tGg>tAg	p.W9*		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	9					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCCCTGACCCCATGAGAGTGT	0.502													2	2					0	0	1	0	0	T	56704396	C	T	56704396	4	4	190	1	0	0	0	0	0	1	0	0	18236	595	21	3	1477	3	ZSCAN5B	19	56704396	Nonsense_Mutation	SNP	C	TCGA-HT-7620-01A-11D-2253-08	44128898	56704396	2424587	23	8236											
DHX35	60625	broad.mit.edu	37	chr20	37634881	37634881	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgtgaaactccgagcctaCaatcccaggacagctattga	12	10	8	11	1	0	2	0	2	0	0	2	4	2	3	3	1	4	1	3	1	4	4			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr20:37634881C>T	uc002xjh.3	+	11	1134	c.1104C>T	c.(1102-1104)taC>taT	p.Y368Y	DHX35_uc010zwa.2_Silent_p.Y213Y|DHX35_uc010zwc.2_Silent_p.Y337Y|DHX35_uc010zwb.2_Silent_p.Y213Y	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 35 (DHX35), transcript variant 1, mRNA.	368	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TCCGAGCCTACAATCCCAGGA	0.522													60	239					0	0	1	0	0	T	37634881	C	T	37634881	2	4	190	1	0	0	0	0	0	0	0	1	4508	489	17	3		3	DHX35	20	37634881	Silent	SNP	C	TCGA-HT-7620-01A-11D-2253-08		37634881	25390639	24	8237											
CLIC2	1193	broad.mit.edu	37	chrX	154508571	154508571	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catccagaagtggggtgtttAagtagtcatccagacgcttg	10	11	12	8	1	1	2	1	0	0	2	3	2	3	2	2	2	0	3	2	2	3	4			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chrX:154508571A>C	uc004fnf.3	-	4	699	c.449T>G	c.(448-450)tTa>tGa	p.L150*	CLIC2_uc010nvj.1_Nonsense_Mutation_p.L168*	NM_001289	NP_001280	O15247	CLIC2_HUMAN	Homo sapiens chloride intracellular channel 2 (CLIC2), mRNA.	150	C-terminal.|GST C-terminal.				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGGGGTGTTTAAGTAGTCATC	0.408													16	14					0	0	1	0	0	C	154508571	A	C	154508571	4	2	190	1	0	0	0	0	0	1	0	0	3526	372	13	5	302	5	CLIC2	23	154508571	Nonsense_Mutation	SNP	A	TCGA-HT-7620-01A-11D-2253-08		154508571	761989	25	8238											
PAPPA2	60676	broad.mit.edu	37	chr1	176734861	176734861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcattgctgcttgatcatgCtgatgtggtgaactgtacct	7	15	11	8	0	2	3	2	3	0	0	2	3	2	3	1	1	5	4	1	1	2	3			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr1:176734861C>T	uc001gkz.3	+	14	5375	c.4211C>T	c.(4210-4212)gCt>gTt	p.A1404V	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1404	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTTGATCATGCTGATGTGGTG	0.507													17	116					0	0	1	0	0	T	176734861	C	T	176734861	3	4	191	1	0	0	0	0	1	0	0	0	11433	797	28	3	4318	3	PAPPA2	1	176734861	Missense_Mutation	SNP	C	TCGA-HT-7676-01A-11D-2395-08		176734861	72515760	1	8239											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								28	41					0	0	1	0	0	T	209113112	C	T	209113112	3	4	191	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7676-01A-11D-2395-08		209113112	34086261	2	8240											
C3orf30	152405	broad.mit.edu	37	chr3	118870094	118870094	+	Frame_Shift_Del	DEL	T	T	-																															attactgaaaacttagtctaTgaaaagccagaggaccccct																										TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr3:118870094delT	uc003ecb.1	+	2	1606	c.1566delT	c.(1564-1566)tatfs	p.Y522fs	C3orf30_uc011biw.1_Frame_Shift_Del_p.Y521fs	NM_152539	NP_689752	Q96M34	CC030_HUMAN	Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA.	522										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		ACTTAGTCTATGAAAAGCCAG	0.358													12	274	---	---	---	---						-	118870094	T	-	118870094	7	5	191	1	0	1	0	1	0	0	0	0	2220	1471	51	0	1576	0	C3orf30	3	118870094	Frame_Shift_Del	DEL	T	TCGA-HT-7676-01A-11D-2395-08		118870094	79152336	3	8241											
ETV5	2119	broad.mit.edu	37	chr3	185769871	185769871	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagagcggctcagcttgTcatagttcatggctggccgg	7	9	16	9	2	3	1	3	0	0	1	3	3	3	2	1	5	2	4	1	5	1	3			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr3:185769871T>C	uc003fpy.3	-	11	1450	c.1385A>G	c.(1384-1386)gAc>gGc	p.D462G	ETV5_uc003fpz.3_Missense_Mutation_p.D420G	NM_004454	NP_004445	P41161	ETV5_HUMAN	Homo sapiens ets variant 5 (ETV5), mRNA.	420					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			GCTCAGCTTGTCATAGTTCAT	0.522			T	"TMPRSS2, SCL45A3"	Prostate								13	110					0	0	1	0	0	C	185769871	T	C	185769871	3	2	191	1	0	0	0	0	1	0	0	0	5282	1667	58	3	281	3	ETV5	3	185769871	Missense_Mutation	SNP	T	TCGA-HT-7676-01A-11D-2395-08	66899777	185769871	12252559	4	8242											
AHRR	57491	broad.mit.edu	37	chr5	423984	423984	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctatcctggggaggctgctCagggcccaggagtggggcac	6	6	18	11	0	1	0	1	0	0	0	2	2	2	2	2	7	1	4	2	7	1	1			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr5:423984C>G	uc003jav.3	+	6	655	c.612C>G	c.(610-612)ctC>ctG	p.L204L	AHRR_uc003jaw.3_Silent_p.L204L|AHRR_uc010isy.3_Silent_p.L50L|AHRR_uc010isz.3_Silent_p.L200L|AHRR_uc003jax.3_5'UTR|AHRR_uc003jay.3_Silent_p.L60L	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA.	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GGAGGCTGCTCAGGGCCCAGG	0.652													46	47					0	0	1	0	0	G	423984	C	G	423984	2	3	191	1	0	0	0	0	0	0	0	1	417	813	29	5		5	AHRR	5	423984	Silent	SNP	C	TCGA-HT-7676-01A-11D-2395-08		423984	180491276	5	8243											
KIAA1009	22832	broad.mit.edu	37	chr6	84896080	84896080	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcatcctgagataatgaTgaagaattaacagttatttt	14	16	7	4	0	1	4	1	3	0	2	2	5	2	4	1	0	1	1	1	0	5	6			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr6:84896080T>C	uc010kbp.3	-	11	1468	c.1371A>G	c.(1369-1371)tcA>tcG	p.S457S	KIAA1009_uc003pkj.4_Silent_p.S381S|KIAA1009_uc003pkk.2_Silent_p.S457S|KIAA1009_uc003pki.4_5'UTR	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	457					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		GAGATAATGATGAAGAATTAA	0.279													18	34					0	0	1	0	0	C	84896080	T	C	84896080	2	2	191	1	0	0	0	0	0	0	0	1	8203	1451	51	3		3	KIAA1009	6	84896080	Silent	SNP	T	TCGA-HT-7676-01A-11D-2395-08		84896080	86218987	6	8244											
ZDHHC14	79683	broad.mit.edu	37	chr6	158014166	158014166	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcccattgcagcctttgtGataactgcgtaggtgagtag	8	12	11	10	1	0	2	0	2	0	0	1	2	1	2	3	1	4	3	3	1	3	5			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr6:158014166G>C	uc003qqt.3	+	2	1050	c.553G>C	c.(553-555)Gat>Cat	p.D185H	ZDHHC14_uc003qqs.3_Missense_Mutation_p.D185H|ZDHHC14_uc010kjm.1_Missense_Mutation_p.D80H	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN	Homo sapiens zinc finger, DHHC-type containing 14 (ZDHHC14), transcript variant 1, mRNA.	185						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CAGCCTTTGTGATAACTGCGT	0.582													4	84					0	0	1	0	0	C	158014166	G	C	158014166	3	2	191	1	0	0	0	0	1	0	0	0	17601	1290	45	5	563	5	ZDHHC14	6	158014166	Missense_Mutation	SNP	G	TCGA-HT-7676-01A-11D-2395-08	73118086	158014166	13100901	7	8245											
ZNF704	619279	broad.mit.edu	37	chr8	81577128	81577128	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtcatcaacttagtctcCgttttggcacaaggagtttc	8	13	10	10	2	3	0	2	0	1	0	5	1	3	1	1	3	1	3	1	3	3	4			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr8:81577128C>T	uc003yby.2	-	5	1081	c.849G>A	c.(847-849)acG>acA	p.T283T		NM_001033723	NP_001028895	Q6ZNC4	ZN704_HUMAN	Homo sapiens zinc finger protein 704 (ZNF704), mRNA.	283						intracellular	zinc ion binding	p.T283T(2)		lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			ACTTAGTCTCCGTTTTGGCAC	0.577													52	80					0	0	1	0	0	T	81577128	C	T	81577128	2	4	191	1	0	0	0	0	0	0	0	1	18104	639	23	2		2	ZNF704	8	81577128	Silent	SNP	C	TCGA-HT-7676-01A-11D-2395-08		81577128	64786894	8	8246											
FER1L6	654463	broad.mit.edu	37	chr8	125113341	125113341	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttgaatctatttttaggtgGttaaagggcttggaggatga	10	16	13	2	0	1	2	0	2	1	0	1	4	1	4	0	5	0	2	0	5	5	7			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr8:125113341G>T	uc003yqw.3	+	37	5093	c.4887G>T	c.(4885-4887)tgG>tgT	p.W1629C	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1629	C2 6.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTTTTAGGTGGTTAAAGGGCT	0.408													21	36					2.27731e-05	2.27731e-05	1	1	0	T	125113341	G	T	125113341	3	4	191	1	0	0	0	0	1	0	0	0	5815	1270	44	5	5033	5	FER1L6	8	125113341	Missense_Mutation	SNP	G	TCGA-HT-7676-01A-11D-2395-08	43536213	125113341	21250681	9	8247											
OR13A1	79290	broad.mit.edu	37	chr10	45799361	45799361	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggatggccgtgttgacggcGcagagcagccacacggctgt	7	7	16	11	4	0	2	0	1	0	1	0	3	0	3	2	4	2	4	2	4	0	1			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr10:45799361G>A	uc001jcc.1	-	3	819	c.510C>T	c.(508-510)tgC>tgT	p.C170C	OR13A1_uc001jcd.1_Silent_p.C166C|OR13A1_uc021ppq.1_Silent_p.C170C	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily A, member 1 (OR13A1), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TGTTGACGGCGCAGAGCAGCC	0.607													35	52					0	0	1	0	0	A	45799361	G	A	45799361	2	1	191	1	0	0	0	0	0	0	0	1	10933	1079	38	1		1	OR13A1	10	45799361	Silent	SNP	G	TCGA-HT-7676-01A-11D-2395-08		45799361	89735386	10	8248											
ROBO3	64221	broad.mit.edu	37	chr11	124745490	124745491	+	Frame_Shift_Ins	INS	-	-	G																															cccccacagggagtggcggtINSggccttggggggtgatggca																								rs140619532	by1000genomes	TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr11:124745490_124745491insG	uc001qbc.3	+	14	2499_2500	c.2330_2331insG	c.(2329-2331)gtgfs	p.V777fs	ROBO3_uc010saq.2_5'Flank|ROBO3_uc001qbd.2_5'Flank|ROBO3_uc010sar.2_5'Flank|ROBO3_uc001qbe.3_5'Flank|ROBO3_uc001qbf.1_5'Flank	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	777	Fibronectin type-III 3.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GGAGTGGCGGTGGCCTTGGGGG	0.604													8	65	---	---	---	---						G	124745491	-	G	124745490	7	5	191	1	0	1	1	0	0	0	0	0	13515	1696	59	0	2388	0	ROBO3	11	124745490	Frame_Shift_Ins	INS	-	TCGA-HT-7676-01A-11D-2395-08		124745490	10261026	11	8249											
DDX51	317781	broad.mit.edu	37	chr12	132624720	132624720	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcacgtcgatgcctcgCgcggtggcgtccgtgctgat	3	9	14	15	7	0	1	0	1	0	0	3	2	1	1	3	2	3	2	3	2	0	0			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr12:132624720C>T	uc001ujy.4	-	11	1737	c.1698G>A	c.(1696-1698)gcG>gcA	p.A566A		NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 (DDX51), mRNA.	566	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		CGATGCCTCGCGCGGTGGCGT	0.711													34	62					0	0	1	0	0	T	132624720	C	T	132624720	2	4	191	1	0	0	0	0	0	0	0	1	4369	755	27	1		1	DDX51	12	132624720	Silent	SNP	C	TCGA-HT-7676-01A-11D-2395-08		132624720	1227175	12	8250											
TPP2	7174	broad.mit.edu	37	chr13	103328687	103328687	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgcattagtaaataaaatGtatgggagaggccttaaatt	16	12	9	4	0	0	1	0	0	0	1	0	2	0	1	1	2	1	3	1	2	8	6			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr13:103328687G>A	uc001vpi.4	+	27	3685	c.3582G>A	c.(3580-3582)atG>atA	p.M1194I		NM_003291	NP_003282	P29144	TPP2_HUMAN	Homo sapiens tripeptidyl peptidase II (TPP2), mRNA.	1194					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TAAATAAAATGTATGGGAGAG	0.264													4	26					0	0	1	0	0	A	103328687	G	A	103328687	3	1	191	1	0	0	0	0	1	0	0	0	16409	1377	48	3	3692	3	TPP2	13	103328687	Missense_Mutation	SNP	G	TCGA-HT-7676-01A-11D-2395-08		103328687	11841191	13	8251											
PLCB2	5330	broad.mit.edu	37	chr15	40587142	40587142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaatgccctcacccatcGtctggaagttgagggcaacc	9	8	12	12	1	2	1	1	1	1	0	3	3	2	3	3	3	2	2	3	3	3	1			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr15:40587142G>A	uc001zld.3	-	17	2202	c.1901C>T	c.(1900-1902)aCg>aTg	p.T634M	PLCB2_uc010bbo.3_Missense_Mutation_p.T630M|PLCB2_uc010ucm.2_Missense_Mutation_p.T634M	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	634	PI-PLC Y-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CTCACCCATCGTCTGGAAGTT	0.582													37	54					0	0	1	0	0	A	40587142	G	A	40587142	3	1	191	1	0	0	0	0	1	0	0	0	12028	1145	40	1	1716	1	PLCB2	15	40587142	Missense_Mutation	SNP	G	TCGA-HT-7676-01A-11D-2395-08		40587142	61944250	14	8252											
SEMA4B	10509	broad.mit.edu	37	chr15	90768923	90768923	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcggcctcacactcgggcGtagtccaggtgcccatggcc	6	7	13	15	3	1	0	1	0	0	0	3	0	2	0	4	4	2	1	4	4	1	1			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr15:90768923G>A	uc002boy.3	+	12	1835	c.1552G>A	c.(1552-1554)Gta>Ata	p.V518I	SEMA4B_uc002boz.3_Missense_Mutation_p.V518I|SEMA4B_uc010uqd.2_Missense_Mutation_p.V356I|SEMA4B_uc002bpa.3_Missense_Mutation_p.V356I	NM_020210	NP_945119			Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B (SEMA4B), transcript variant 1, mRNA.											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			ACACTCGGGCGTAGTCCAGGT	0.672													4	5					0	0	1	0	0	A	90768923	G	A	90768923	3	1	191	1	0	0	0	0	1	0	0	0	14032	1145	40	1	1598	1	SEMA4B	15	90768923	Missense_Mutation	SNP	G	TCGA-HT-7676-01A-11D-2395-08	50181781	90768923	11762469	15	8253											
TP53	7157	broad.mit.edu	37	chr17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctatctgagcagcgctcaTggtgggggcagcgcctcaca	7	7	14	13	3	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	1	1			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr17:7578394T>C	uc002gim.2	-	4	730	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_uc002gig.1_Missense_Mutation_p.H179R|TP53_uc002gih.3_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.2_Missense_Mutation_p.H140R	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(214)|p.H179Y(90)|p.H179L(78)|p.H179Q(19)|p.P177_C182delPHHERC(16)|p.H178fs*69(15)|p.H179N(14)|p.H179D(11)|p.H178Y(8)|p.0?(8)|p.C176_R181delCPHHER(6)|p.H179P(6)|p.H178fs*3(6)|p.H178P(6)|p.R175_E180delRCPHHE(6)|p.H178Q(5)|p.H178D(5)|p.H178_S183delHHERCS(4)|p.H47L(4)|p.H86L(4)|p.H179fs*68(3)|p.R174fs*24(3)|p.H178N(3)|p.P177_H179delPHH(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.H86R(2)|p.H178fs*6(2)|p.P177_E180delPHHE(2)|p.H47R(2)|p.R174fs*1(2)|p.H178H(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.H179fs*?(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.H179del(1)|p.H178L(1)|p.R175_H178>X(1)|p.P177_C182del(1)|p.R81fs*24(1)|p.H178del(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(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)		GCAGCGCTCATGGTGGGGGCA	0.642		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)			54	11					0	0	1	0	0	C	7578394	T	C	7578394	3	2	191	1	0	0	0	0	1	0	0	0	16378	1464	51	3	762	3	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-HT-7676-01A-11D-2395-08		7578394	73616816	16	8254											
KRT20	54474	broad.mit.edu	37	chr17	39041356	39041356	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgggtgtcgtcccgaggcGctgcatgcccactgtactga	5	9	14	13	3	0	1	0	1	0	0	2	2	1	1	2	2	3	4	2	2	1	1			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr17:39041356G>A	uc002hvl.3	-	0	140	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C		NM_019010	NP_061883	P35900	K1C20_HUMAN	Homo sapiens keratin 20 (KRT20), mRNA.	28	Head.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				GTCCCGAGGCGCTGCATGCCC	0.597													25	33					0	0	1	0	0	A	39041356	G	A	39041356	3	1	191	1	0	0	0	0	1	0	0	0	8458	1087	38	1	1224	1	KRT20	17	39041356	Missense_Mutation	SNP	G	TCGA-HT-7676-01A-11D-2395-08	31462962	39041356	42153854	17	8255											
ZADH2	284273	broad.mit.edu	37	chr18	72913406	72913406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacagagtgaggtaattcaaCtacaatttttccagtgtttt	12	15	8	6	0	1	2	1	1	0	1	2	3	2	2	1	1	2	2	1	1	4	7			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr18:72913406C>T	uc002llx.3	-	1	1367	c.1099G>A	c.(1099-1101)Gtt>Att	p.V367I	ZADH2_uc010dqv.3_Missense_Mutation_p.V244I	NM_175907	NP_787103	Q8N4Q0	ZADH2_HUMAN	Homo sapiens zinc binding alcohol dehydrogenase domain containing 2 (ZADH2), mRNA.	367						peroxisome	oxidoreductase activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		GGTAATTCAACTACAATTTTT	0.398													22	38					0	0	1	0	0	T	72913406	C	T	72913406	3	4	191	1	0	0	0	0	1	0	0	0	17508	565	20	3	38	3	ZADH2	18	72913406	Missense_Mutation	SNP	C	TCGA-HT-7676-01A-11D-2395-08		72913406	5163842	18	8256											
KCNB1	3745	broad.mit.edu	37	chr20	48098921	48098921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccccgacgttgaggcggaCccgccgagagcacgccttgc	6	4	13	18	6	0	2	0	1	0	1	0	5	0	3	6	2	2	2	6	2	0	2			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr20:48098921C>T	uc002xur.1	-	0	263	c.97G>A	c.(97-99)Gtc>Atc	p.V33I	KCNB1_uc002xus.1_Missense_Mutation_p.V33I	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	33					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTGAGGCGGACCCGCCGAGAG	0.716													2	0					0	0	1	0	0	T	48098921	C	T	48098921	3	4	191	1	0	0	0	0	1	0	0	0	8012	507	18	3	2487	3	KCNB1	20	48098921	Missense_Mutation	SNP	C	TCGA-HT-7676-01A-11D-2395-08		48098921	14926599	19	8257											
ATRX	546	broad.mit.edu	37	chrX	76855230	76855230	+	Frame_Shift_Del	DEL	G	G	-																															tcatcggagcttaaactcatGgaggtttcatcagaatctga																										TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chrX:76855230delG	uc004ecp.4	-	23	5989	c.5757delC	c.(5755-5757)tccfs	p.S1919fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.S1881fs|ATRX_uc004eco.4_Frame_Shift_Del_p.S1704fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1919					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTAAACTCATGGAGGTTTCAT	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						22	8	---	---	---	---						-	76855230	G	-	76855230	7	5	191	1	0	1	0	1	0	0	0	0	1208	1335	47	0	1769	0	ATRX	23	76855230	Frame_Shift_Del	DEL	G	TCGA-HT-7676-01A-11D-2395-08		76855230	78415330	20	8258											
FUBP1	8880	broad.mit.edu	37	chr1	78430643	78430643	+	Frame_Shift_Del	DEL	C	C	-																															gaatcataaccattttaactCcagcccgttcctgttacaat																										TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr1:78430643delC	uc001dii.3	-	8	736	c.647delG	c.(646-648)ggafs	p.G216fs	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Frame_Shift_Del_p.G237fs	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	216	KH 2.				transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CATTTTAACTCCAGCCCGTTC	0.363			"F, N"		oligodendroglioma								44	33	---	---	---	---						-	78430643	C	-	78430643	7	5	192	1	0	1	0	1	0	0	0	0	6092	855	30	0	1335	0	FUBP1	1	78430643	Frame_Shift_Del	DEL	C	TCGA-HT-7677-01A-11D-2253-08		78430643	170819978	1	8259											
F5	2153	broad.mit.edu	37	chr1	169524423	169524423	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccccaacaactcacttgTccatattcgctggtattaca	12	11	5	13	1	1	0	1	0	0	0	3	1	2	0	3	1	4	2	3	1	6	5			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr1:169524423T>C	uc001ggg.1	-	6	1260	c.1115A>G	c.(1114-1116)gAc>gGc	p.D372G	F5_uc010plr.1_Non-coding_Transcript	NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	372	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AACTCACTTGTCCATATTCGC	0.468													30	183					0	0	1	0	0	C	169524423	T	C	169524423	3	2	192	1	0	0	0	0	1	0	0	0	5348	1667	58	3	5635	3	F5	1	169524423	Missense_Mutation	SNP	T	TCGA-HT-7677-01A-11D-2253-08	91093780	169524423	79726198	2	8260											
CFHR1	3078	broad.mit.edu	37	chr1	196749062	196749062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagaccacagttacatgtaCggagaaaggctggtctccta	12	8	11	10	1	1	2	0	0	1	2	2	3	1	2	2	3	2	4	2	3	4	3			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr1:196749062C>T	uc001gtl.3	+	2	476	c.389C>T	c.(388-390)aCg>aTg	p.T130M	CFH_uc021pgt.1_Intron|CFHR1_uc001gtk.3_Missense_Mutation_p.T130M|CFHR1_uc010poy.2_Missense_Mutation_p.T130M|CFHR1_uc001gtm.3_Intron	NM_021023	NP_066303	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 3 (CFHR3), transcript variant 1, mRNA.	130	Sushi 2.				complement activation	extracellular space		p.T130M(1)		NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						GTTACATGTACGGAGAAAGGC	0.473													36	58					0	0	1	0	0	T	196749062	C	T	196749062	3	4	192	1	0	0	0	0	1	0	0	0	3284	536	19	1		1	CFHR1	1	196749062	Missense_Mutation	SNP	C	TCGA-HT-7677-01A-11D-2253-08	27224639	196749062	52501559	3	8261											
PPM1B	5495	broad.mit.edu	37	chr2	44457550	44457550	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggtcttgaatcttaaaaaaAggcctccgatgaagcagagg	14	8	12	7	1	2	3	0	2	2	1	3	4	3	3	2	3	1	1	2	3	6	2			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr2:44457550A>G	uc002rtt.3	+	6	1563	c.1135_splice	c.e6-2	p.A379_splice	PPM1B_uc002rtu.3_3'UTR|PPM1B_uc002rtv.3_Splice_Site_p.A92_splice|PPM1B_uc002rtw.3_Intron|PPM1B_uc002rtx.3_Intron	NM_002706	NP_002697	O75688	PPM1B_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1B (PPM1B), transcript variant 1, mRNA.	379					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCTTAAAAAAAGGCCTCCGAT	0.393													3	86					0	0	1	0	0	G	44457550	A	G	44457550	5	3	192	1	0	0	0	0	0	0	1	0	12336	86	3	4	1184	4	PPM1B	2	44457550	Splice_Site	SNP	A	TCGA-HT-7677-01A-11D-2253-08		44457550	198741823	4	8262											
SPTBN1	6711	broad.mit.edu	37	chr2	54859857	54859857	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggctggtgagcgatgggaAcatcaactcagatcgcatcc	11	7	13	10	2	2	2	2	1	0	1	4	5	3	3	1	3	3	2	1	3	2	0			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr2:54859857A>G	uc002rxu.3	+	16	3968	c.3719A>G	c.(3718-3720)aAc>aGc	p.N1240S	SPTBN1_uc002rxx.3_Missense_Mutation_p.N1227S	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	1240					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGCGATGGGAACATCAACTCA	0.507													3	51					0	0	1	0	0	G	54859857	A	G	54859857	3	3	192	1	0	0	0	0	1	0	0	0	15118	43	2	3	3894	3	SPTBN1	2	54859857	Missense_Mutation	SNP	A	TCGA-HT-7677-01A-11D-2253-08	10402307	54859857	188339516	5	8263											
SCN3A	6328	broad.mit.edu	37	chr2	165948831	165948831	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atagtgaagtagtagtgtctGagggagacgagcttcagcac	12	9	14	6	1	2	3	1	2	1	1	2	5	2	3	0	1	2	4	0	1	4	4			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr2:165948831G>C	uc002ucx.3	-	26	5232	c.4740C>G	c.(4738-4740)ctC>ctG	p.L1580L	SCN3A_uc010zcy.2_Silent_p.L63L|SCN3A_uc002ucy.3_Silent_p.L1531L|SCN3A_uc002ucz.3_Silent_p.L1531L	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1580						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AGTAGTGTCTGAGGGAGACGA	0.438													35	54					0	0	1	0	0	C	165948831	G	C	165948831	2	2	192	1	0	0	0	0	0	0	0	1	13918	1277	45	5		5	SCN3A	2	165948831	Silent	SNP	G	TCGA-HT-7677-01A-11D-2253-08	111088974	165948831	77250542	6	8264											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								31	42					0	0	1	0	0	T	209113112	C	T	209113112	3	4	192	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7677-01A-11D-2253-08	43164281	209113112	34086261	7	8265											
ATG9A	79065	broad.mit.edu	37	chr2	220088460	220088460	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgaggggtgtgacaatgggGctcagcaactcttccaaaat	12	9	12	8	0	2	2	1	2	1	0	3	2	3	2	1	4	2	2	1	4	4	1			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr2:220088460G>A	uc002vke.1	-	9	1632	c.1446C>T	c.(1444-1446)agC>agT	p.S482S	ATG9A_uc002vkd.1_Non-coding_Transcript|ATG9A_uc002vkf.1_Silent_p.S482S	NM_001077198	NP_076990	Q7Z3C6	ATG9A_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog A (S. cerevisiae) (ATG9A), transcript variant 1, mRNA.	482					autophagic vacuole assembly|protein transport	Golgi apparatus|autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|late endosome membrane		p.L481M(1)		endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGACAATGGGGCTCAGCAACT	0.577													4	70					0	0	1	0	0	A	220088460	G	A	220088460	2	1	192	1	0	0	0	0	0	0	0	1	1102	1194	42	3		3	ATG9A	2	220088460	Silent	SNP	G	TCGA-HT-7677-01A-11D-2253-08	10975348	220088460	23110913	8	8266											
TRIP12	9320	broad.mit.edu	37	chr2	230638967	230638968	+	Frame_Shift_Del	DEL	CT	CT	-																															tttctaatgcatactgtagaCtctctttggtctaaaaaaca																										TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr2:230638967_230638968delCT	uc002vpx.1	-	37	5567_5568	c.5458_5459delAG	c.(5458-5460)agtfs	p.S1820fs	TRIP12_uc021vxw.1_Frame_Shift_Del_p.S1805fs|TRIP12_uc002vpy.1_Frame_Shift_Del_p.S1502fs|TRIP12_uc002vpw.1_Frame_Shift_Del_p.S1772fs	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	1772					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	p.E1819*(1)|p.E1819V(1)|p.E1819L(1)		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)		ATACTGTAGACTCTCTTTGGTC	0.361													44	64	---	---	---	---						-	230638968	CT	-	230638967	7	5	192	1	0	1	0	1	0	0	0	0	16553	565	20	0	683	0	TRIP12	2	230638967	Frame_Shift_Del	DEL	CT	TCGA-HT-7677-01A-11D-2253-08	10550507	230638967	12560406	9	8267											
FGD5	152273	broad.mit.edu	37	chr3	14862573	14862573	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgacgtttaagaagaagacGgagaacaaattgcatgtgga	16	8	12	5	2	0	5	0	1	0	4	0	7	0	6	0	2	2	2	0	2	5	3			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr3:14862573G>A	uc003bzc.3	+	0	2105	c.1995G>A	c.(1993-1995)acG>acA	p.T665T	FGD5_uc011avk.2_Silent_p.T665T	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	665					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AGAAGAAGACGGAGAACAAAT	0.512													30	38					0	0	1	0	0	A	14862573	G	A	14862573	2	1	192	1	0	0	0	0	0	0	0	1	5836	1103	39	2		2	FGD5	3	14862573	Silent	SNP	G	TCGA-HT-7677-01A-11D-2253-08		14862573	183159857	10	8268											
XIRP1	165904	broad.mit.edu	37	chr3	39227360	39227360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcccccaggctcctcccGccctggcccagtactctgac	5	6	9	21	1	1	1	0	1	1	0	3	1	3	1	6	2	2	3	6	2	1	1			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr3:39227360G>A	uc003cjk.2	-	1	3806	c.3577C>T	c.(3577-3579)Cgg>Tgg	p.R1193W	XIRP1_uc003cji.3_Intron|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Missense_Mutation_p.R1193W	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1193							actin binding	p.R1193W(2)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGCTCCTCCCGCCCTGGCCCA	0.677													5	39					0	0	1	0	0	A	39227360	G	A	39227360	3	1	192	1	0	0	0	0	1	0	0	0	17426	1086	38	1	1958	1	XIRP1	3	39227360	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	24364787	39227360	158795070	11	8269											
TRIML1	339976	broad.mit.edu	37	chr4	189061052	189061052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacgagcagggtggaagcGccttcgtagcccagagccat	10	6	14	11	3	0	2	0	1	0	1	1	4	0	3	3	2	4	2	3	2	2	2			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr4:189061052G>A	uc003izm.1	+	0	455	c.340G>A	c.(340-342)Gcc>Acc	p.A114T		NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	114					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GGGTGGAAGCGCCTTCGTAGC	0.622													3	48					0	0	1	0	0	A	189061052	G	A	189061052	3	1	192	1	0	0	0	0	1	0	0	0	16547	1087	38	1	342	1	TRIML1	4	189061052	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08		189061052	2093224	12	8270											
RARS2	57038	broad.mit.edu	37	chr6	88229954	88229954	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaatacttgctgaaaatgCtttttttgtcctttatctgt	8	20	7	6	0	1	1	0	1	1	0	2	2	2	2	1	1	3	2	1	1	5	7			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr6:88229954C>A	uc003pme.3	-	12	1116	c.1056G>T	c.(1054-1056)aaG>aaT	p.K352N	RARS2_uc003pmc.3_Missense_Mutation_p.K177N|RARS2_uc003pmf.3_Non-coding_Transcript	NM_020320	NP_064716	Q5T160	SYRM_HUMAN	Homo sapiens arginyl-tRNA synthetase 2, mitochondrial (RARS2), nuclear gene encoding mitochondrial protein, mRNA.	352					arginyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|arginine-tRNA ligase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		GCTGAAAATGCTTTTTTTGTC	0.328													20	137					3.08376e-08	3.35427e-08	1	1	0	A	88229954	C	A	88229954	3	1	192	1	0	0	0	0	1	0	0	0	13059	796	28	5	712	5	RARS2	6	88229954	Missense_Mutation	SNP	C	TCGA-HT-7677-01A-11D-2253-08		88229954	82885113	13	8271											
FHL5	9457	broad.mit.edu	37	chr6	97053913	97053913	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtgtgccatgttttgagaAggagtttgctcactactgca	8	15	11	7	0	1	1	1	1	0	1	1	3	1	2	1	1	4	4	1	1	2	5			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr6:97053913A>G	uc003pos.2	+	4	886	c.470A>G	c.(469-471)aAg>aGg	p.K157R	FHL5_uc003pot.2_Missense_Mutation_p.K157R	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	Homo sapiens four and a half LIM domains 5 (FHL5), transcript variant 1, mRNA.	157	LIM zinc-binding 2.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		TGTTTTGAGAAGGAGTTTGCT	0.383													7	55					0	0	1	0	0	G	97053913	A	G	97053913	3	3	192	1	0	0	0	0	1	0	0	0	5881	72	3	4	480	4	FHL5	6	97053913	Missense_Mutation	SNP	A	TCGA-HT-7677-01A-11D-2253-08	8823959	97053913	74061154	14	8272											
EYA4	2070	broad.mit.edu	37	chr6	133783471	133783471	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgctatttttctgatatttAggccctatccacacattctt	9	18	4	10	0	2	1	0	1	2	0	3	1	3	1	2	1	1	1	2	1	4	9			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr6:133783471A>T	uc011ecs.2	+	8	754	c.438_splice	c.e8-2	p.K146_splice	EYA4_uc011ecq.2_Splice_Site_p.K92_splice|EYA4_uc011ecr.2_Splice_Site_p.K92_splice|EYA4_uc003qec.4_Splice_Site_p.K146_splice|EYA4_uc003qed.4_Splice_Site_p.K146_splice|EYA4_uc003qee.4_Splice_Site_p.K123_splice|BC041459_uc003qef.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	146					DNA repair|anatomical structure morphogenesis|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TCTGATATTTAGGCCCTATCC	0.438													24	176					0	0	1	0	0	T	133783471	A	T	133783471	5	4	192	1	0	0	0	0	0	0	1	0	5331	434	15	5	462	5	EYA4	6	133783471	Splice_Site	SNP	A	TCGA-HT-7677-01A-11D-2253-08	36729558	133783471	37331596	15	8273											
ARID1B	57492	broad.mit.edu	37	chr6	157469999	157469999	+	Frame_Shift_Del	DEL	G	G	-																															cagcagggagggccaggaatGgggccgccaatgccaactgt																										TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr6:157469999delG	uc003qqp.3	+	7	2754	c.2754delG	c.(2752-2754)atgfs	p.M918fs	ARID1B_uc003qqo.3_Frame_Shift_Del_p.M931fs|ARID1B_uc003qqn.3_Frame_Shift_Del_p.M918fs|ARID1B_uc003qqq.1_Frame_Shift_Del_p.M302fs	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	918					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGCCAGGAATGGGGCCGCCAA	0.587													31	62	---	---	---	---						-	157469999	G	-	157469999	7	5	192	1	0	1	0	1	0	0	0	0	914	1348	47	0	2827	0	ARID1B	6	157469999	Frame_Shift_Del	DEL	G	TCGA-HT-7677-01A-11D-2253-08	23686528	157469999	13645068	16	8274											
NPSR1	387129	broad.mit.edu	37	chr7	34724169	34724169	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtttcttgcagactgaGcaattgataactctgtgggt	8	15	10	8	0	3	3	0	2	3	1	3	3	3	3	0	1	3	3	0	1	2	4			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr7:34724169G>A	uc003teh.1	+	1	281	c.153G>A	c.(151-153)gaG>gaA	p.E51E	NPSR1-AS1_uc010kwo.2_Intron|NPSR1-AS1_uc010kwp.2_Intron|NPSR1-AS1_uc003tdz.3_Intron|NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc003teb.1_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.E51E|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Silent_p.E51E|NPSR1_uc003tei.1_Silent_p.E51E|NPSR1_uc010kww.1_Silent_p.E51E|NPSR1_uc011kar.1_Silent_p.E51E	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	51						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TGCAGACTGAGCAATTGATAA	0.433													34	60					0	0	1	0	0	A	34724169	G	A	34724169	2	1	192	1	0	0	0	0	0	0	0	1	10600	962	34	3		3	NPSR1	7	34724169	Silent	SNP	G	TCGA-HT-7677-01A-11D-2253-08		34724169	124414494	17	8275											
GRB10	2887	broad.mit.edu	37	chr7	50686874	50686874	+	Frame_Shift_Del	DEL	T	T	-																															aggtaagactcaccatgggaTttttaaagaactcgtatttt																										TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr7:50686874delT	uc003tpi.2	-	5	816	c.770delA	c.(769-771)aatfs	p.N257fs	GRB10_uc003tph.3_Frame_Shift_Del_p.N199fs|GRB10_uc003tpj.2_Frame_Shift_Del_p.N257fs|GRB10_uc003tpk.2_Frame_Shift_Del_p.N257fs|GRB10_uc010kzb.2_Frame_Shift_Del_p.N199fs|GRB10_uc003tpl.2_Frame_Shift_Del_p.N251fs|GRB10_uc003tpm.2_Frame_Shift_Del_p.N199fs	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	257					insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CACCATGGGATTTTTAAAGAA	0.408									Russell-Silver syndrome				20	31	---	---	---	---						-	50686874	T	-	50686874	7	5	192	1	0	1	0	1	0	0	0	0	6756	1493	52	0	1058	0	GRB10	7	50686874	Frame_Shift_Del	DEL	T	TCGA-HT-7677-01A-11D-2253-08	15962705	50686874	108451789	18	8276											
GAL3ST4	79690	broad.mit.edu	37	chr7	99764196	99764196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcctccaccctgtgggcGgtagccttttaccctagagg	5	10	13	13	1	0	1	0	0	0	1	1	1	1	1	5	4	3	1	5	4	3	4	rs116867043	byFrequency	TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr7:99764196G>A	uc003utt.3	-	1	1375	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	GAL3ST4_uc022aii.1_Intron|GAL3ST4_uc003utu.3_Missense_Mutation_p.R120C	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 4 (GAL3ST4), mRNA.	120					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCTGTGGGCGGTAGCCTTTT	0.612													4	167					0	0	1	0	0	A	99764196	G	A	99764196	3	1	192	1	0	0	0	0	1	0	0	0	6200	1116	39	2	1110	2	GAL3ST4	7	99764196	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	49077322	99764196	59374467	19	8277											
FLNC	2318	broad.mit.edu	37	chr7	128492959	128492959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaagcatgtcaccaacagcCccttcaagatcctggtgggg	10	7	11	13	0	2	1	2	0	0	1	3	1	3	1	4	3	3	2	4	3	3	1			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr7:128492959C>T	uc003vnz.4	+	36	6291	c.6082C>T	c.(6082-6084)Ccc>Tcc	p.P2028S	FLNC_uc003voa.4_Missense_Mutation_p.P1995S	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2028					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CACCAACAGCCCCTTCAAGAT	0.617													7	88					0	0	1	0	0	T	128492959	C	T	128492959	3	4	192	1	0	0	0	0	1	0	0	0	5935	623	22	3	6228	3	FLNC	7	128492959	Missense_Mutation	SNP	C	TCGA-HT-7677-01A-11D-2253-08	28728763	128492959	30645704	20	8278											
PSD3	23362	broad.mit.edu	37	chr8	18393449	18393449	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttccttgagaatgctgacaTacatttcatagcgggttttc	9	15	8	9	1	1	2	1	2	0	1	3	3	2	2	1	1	3	2	1	1	3	7			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr8:18393449T>C	uc003wza.3	-	15	3051	c.2948A>G	c.(2947-2949)tAt>tGt	p.Y983C	PSD3_uc003wyx.4_Missense_Mutation_p.Y312C|PSD3_uc003wyy.3_Missense_Mutation_p.Y449C|PSD3_uc003wyz.3_Missense_Mutation_p.Y284C	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	984					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		AATGCTGACATACATTTCATA	0.488													3	88					0	0	1	0	0	C	18393449	T	C	18393449	3	2	192	1	0	0	0	0	1	0	0	0	12648	1406	49	3	199	3	PSD3	8	18393449	Missense_Mutation	SNP	T	TCGA-HT-7677-01A-11D-2253-08		18393449	127970573	21	8279											
EPB49	2039	broad.mit.edu	37	chr8	21927431	21927431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caacatctacaagaagcctcCcatctataagcagagaggtg	15	7	8	11	0	2	2	0	0	2	2	3	3	3	2	2	1	4	1	2	1	6	3			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr8:21927431C>T	uc022asw.1	+	5	472	c.434C>T	c.(433-435)cCc>cTc	p.P145L	EPB49_uc022asq.1_Missense_Mutation_p.P145L|EPB49_uc011kys.1_Missense_Mutation_p.P105L|EPB49_uc022asr.1_Missense_Mutation_p.P145L|EPB49_uc022ass.1_Missense_Mutation_p.P120L|EPB49_uc022ast.1_Missense_Mutation_p.P145L|EPB49_uc022asu.1_Missense_Mutation_p.P145L|EPB49_uc022asv.1_Missense_Mutation_p.P145L|EPB49_uc022asx.1_Missense_Mutation_p.P145L|EPB49_uc022asy.1_Missense_Mutation_p.P120L	NM_001978	NP_001969	Q08495	DEMA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA.	145					actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	10				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		AAGAAGCCTCCCATCTATAAG	0.642													7	122					0	0	1	0	0	T	21927431	C	T	21927431	3	4	192	1	0	0	0	0	1	0	0	0	5159	623	22	3	456	3	EPB49	8	21927431	Missense_Mutation	SNP	C	TCGA-HT-7677-01A-11D-2253-08	3533982	21927431	124436591	22	8280											
C8orf80	389643	broad.mit.edu	37	chr8	27891083	27891083	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcttccaaaaacagggtcGatctggtcatagacgggctg	11	9	12	9	2	2	1	1	0	1	1	4	2	3	1	1	3	2	2	1	3	3	2			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr8:27891083G>T	uc003xgm.4	-	13	1886	c.1743C>A	c.(1741-1743)atC>atA	p.I581I		NM_001010906	NP_001010906	Q68CJ6	SLIP_HUMAN	Homo sapiens chromosome 8 open reading frame 80 (C8orf80), mRNA.	581						nucleus	GTP binding|GTPase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|skin(1)|stomach(1)	35		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181)		AAACAGGGTCGATCTGGTCAT	0.453													3	38					1.23904e-05	1.32449e-05	1	1	0	T	27891083	G	T	27891083	2	4	192	1	0	0	0	0	0	0	0	1	2439	1048	37	5		5	C8orf80	8	27891083	Silent	SNP	G	TCGA-HT-7677-01A-11D-2253-08	5963652	27891083	118472939	23	8281											
PRKDC	5591	broad.mit.edu	37	chr8	48792204	48792204	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctggtgaagaatggaagaaGagtgacagcttggccctgtg	11	8	16	6	0	0	5	0	2	0	3	0	6	0	6	1	3	1	2	1	3	4	1			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr8:48792204G>C	uc003xqi.3	-	39	5137	c.5080C>G	c.(5080-5082)Ctt>Gtt	p.L1694V	PRKDC_uc003xqj.3_Missense_Mutation_p.L1694V	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	1695					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AATGGAAGAAGAGTGACAGCT	0.463								Non-homologous end-joining					4	17					0	0	1	0	0	C	48792204	G	C	48792204	3	2	192	1	0	0	0	0	1	0	0	0	12521	942	33	5	7495	5	PRKDC	8	48792204	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	20901121	48792204	97571818	24	8282											
SOX17	64321	broad.mit.edu	37	chr8	55372386	55372386	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagctcctcggggaggtggAccgcacggaatttgaacagt	9	7	15	10	4	0	1	0	1	0	0	2	5	1	4	2	5	2	2	2	5	2	1			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr8:55372386A>G	uc003xsb.4	+	1	1280	c.1076A>G	c.(1075-1077)gAc>gGc	p.D359G		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	Homo sapiens SRY (sex determining region Y)-box 17 (SOX17), mRNA.	359	Sox C-terminal.				Wnt receptor signaling pathway|angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			GGGGAGGTGGACCGCACGGAA	0.692													13	40					0	0	1	0	0	G	55372386	A	G	55372386	3	3	192	1	0	0	0	0	1	0	0	0	14947	275	10	3	1082	3	SOX17	8	55372386	Missense_Mutation	SNP	A	TCGA-HT-7677-01A-11D-2253-08	6580182	55372386	90991636	25	8283											
DMRTA1	63951	broad.mit.edu	37	chr9	22451627	22451627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taataaatcagctttctctcCtcttcaaactacttctgctt	10	17	2	12	0	5	0	2	0	3	0	7	0	6	0	1	0	4	2	1	0	5	7			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr9:22451627C>T	uc003zpp.1	+	1	1457	c.1232C>T	c.(1231-1233)cCt>cTt	p.P411L		NM_022160	NP_071443	Q5VZB9	DMRTA_HUMAN	Homo sapiens DMRT-like family A1 (DMRTA1), mRNA.	411					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		GCTTTCTCTCCTCTTCAAACT	0.408													29	69					0	0	1	0	0	T	22451627	C	T	22451627	3	4	192	1	0	0	0	0	1	0	0	0	4588	681	24	3	1238	3	DMRTA1	9	22451627	Missense_Mutation	SNP	C	TCGA-HT-7677-01A-11D-2253-08		22451627	118761804	26	8284											
CYP2C19	1557	broad.mit.edu	37	chr10	96602618	96602618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccaggaagagattgaacGtgtcgttggcagaaaccgga	13	7	14	7	3	0	3	0	1	0	2	2	6	1	5	2	3	2	2	2	3	3	2	rs138142612		TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr10:96602618G>A	uc010qnz.2	+	6	986	c.986G>A	c.(985-987)cGt>cAt	p.R329H	CYP2C19_uc010qny.2_Missense_Mutation_p.R307H	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	329			R -> H (in allele CYP2C19*18).		exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GAGATTGAACGTGTCGTTGGC	0.498													16	134					0	0	1	0	0	A	96602618	G	A	96602618	3	1	192	1	0	0	0	0	1	0	0	0	4166	1145	40	1	1012	1	CYP2C19	10	96602618	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08		96602618	38932129	27	8285											
DOCK1	1793	broad.mit.edu	37	chr10	128850979	128850979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttgaagaactacgtggacGgtgctgagaagccgggagta	11	8	16	6	3	0	3	0	2	0	2	0	6	0	5	1	3	4	3	1	3	5	3			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr10:128850979G>A	uc010qun.2	+	21	2300	c.2236G>A	c.(2236-2238)Ggt>Agt	p.G746S	DOCK1_uc001ljt.3_Missense_Mutation_p.G725S	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	725					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity	p.G725C(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CTACGTGGACGGTGCTGAGAA	0.433													3	97					0	0	1	0	0	A	128850979	G	A	128850979	3	1	192	1	0	0	0	0	1	0	0	0	4684	1116	39	2	2259	2	DOCK1	10	128850979	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	32248361	128850979	6683768	28	8286											
OR52B6	340980	broad.mit.edu	37	chr11	5603034	5603034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcctatgctcaatcccGttatttatggagtgaggact	8	15	8	10	1	1	1	1	1	0	0	4	3	4	3	3	2	1	2	3	2	4	5			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr11:5603034G>A	uc010qzi.2	+	0	928	c.928G>A	c.(928-930)Gtt>Att	p.V310I	HBG1_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 6 (OR52B6), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P309L(1)		endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTCAATCCCGTTATTTATGG	0.443													60	82					0	0	1	0	0	A	5603034	G	A	5603034	3	1	192	1	0	0	0	0	1	0	0	0	11113	1145	40	1	930	1	OR52B6	11	5603034	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08		5603034	129403482	29	8287											
LTBR	4055	broad.mit.edu	37	chr12	6499942	6499942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagacctcccagctacccccGaacctccataccccattccc	9	6	4	22	1	0	1	0	0	0	1	3	3	3	1	9	0	4	1	9	0	3	3			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:6499942G>A	uc001qny.1	+	9	1315	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K	LTBR_uc010sfc.1_Missense_Mutation_p.E364K|LTBR_uc001qnz.1_Missense_Mutation_p.E378K	NM_002342	NP_002333	P36941	TNR3_HUMAN	Homo sapiens lymphotoxin beta receptor (TNFR superfamily, member 3) (LTBR), mRNA.	383					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						AGCTACCCCCGAACCTCCATA	0.612													5	139					0	0	1	0	0	A	6499942	G	A	6499942	3	1	192	1	0	0	0	0	1	0	0	0	9077	1059	37	2	1185	2	LTBR	12	6499942	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08		6499942	127351953	30	8288											
EMG1	10436	broad.mit.edu	37	chr12	7083747	7083747	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggatagtcccctgaacCgagctggcttgctacaggtt	8	11	12	10	1	0	2	0	2	0	0	1	4	1	3	3	3	4	4	3	3	3	4			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:7083747C>T	uc001qsh.4	+	3	444	c.301C>T	c.(301-303)Cga>Tga	p.R101*	EMG1_uc009zfo.2_Intron|EMG1_uc010sfv.1_Non-coding_Transcript	NM_006331	NP_006322	Q92979	NEP1_HUMAN	Homo sapiens EMG1 nucleolar protein homolog (S. cerevisiae) (EMG1), mRNA.	102					ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										TCCCCTGAACCGAGCTGGCTT	0.493													15	32					0	0	1	0	0	T	7083747	C	T	7083747	4	4	192	1	0	0	0	0	0	1	0	0	5090	644	23	2	313	2	EMG1	12	7083747	Nonsense_Mutation	SNP	C	TCGA-HT-7677-01A-11D-2253-08	583805	7083747	126768148	31	8289											
STRAP	11171	broad.mit.edu	37	chr12	16036493	16036493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggtaaacctatgctacGccagggagatacaggagact	14	7	12	8	1	0	3	0	0	0	3	0	5	0	3	2	3	4	2	2	3	5	4			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:16036493G>A	uc010shw.2	+	2	524	c.170G>A	c.(169-171)cGc>cAc	p.R57H	STRAP_uc001rdc.4_Missense_Mutation_p.R44H|STRAP_uc001rdd.4_Intron	NM_007178	NP_009109	Q9Y3F4	STRAP_HUMAN	Homo sapiens serine/threonine kinase receptor associated protein (STRAP), mRNA.	44					RNA splicing|mRNA processing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				CCTATGCTACGCCAGGGAGAT	0.358													3	53					0	0	1	0	0	A	16036493	G	A	16036493	3	1	192	1	0	0	0	0	1	0	0	0	15325	1087	38	1	137	1	STRAP	12	16036493	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	8952746	16036493	117815402	32	8290											
KRT75	9119	broad.mit.edu	37	chr12	52822506	52822506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcatccccatgtctgcctgCggtgacctgcagctcctcgt	4	11	10	16	2	2	1	1	1	1	0	5	1	4	1	5	1	4	2	5	1	0	0	rs140579691	byFrequency	TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:52822506C>T	uc001saj.2	-	5	1079	c.1057G>A	c.(1057-1059)Gca>Aca	p.A353T		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	353	Coil 2.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TGTCTGCCTGCGGTGACCTGC	0.547													9	120					0	0	1	0	0	T	52822506	C	T	52822506	3	4	192	1	0	0	0	0	1	0	0	0	8488	768	27	1	614	1	KRT75	12	52822506	Missense_Mutation	SNP	C	TCGA-HT-7677-01A-11D-2253-08	36786013	52822506	81029389	33	8291											
HVCN1	84329	broad.mit.edu	37	chr12	111099098	111099098	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctcgcctgagactggtgtGggtggtggctgctcctcctc	2	12	14	13	1	0	1	0	1	0	1	5	2	3	1	4	4	1	2	4	4	0	0			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:111099098G>C	uc001trs.1	-	3	342	c.177C>G	c.(175-177)ccC>ccG	p.P59P	HVCN1_uc001trq.1_Silent_p.P59P|HVCN1_uc001trt.1_Silent_p.P59P|HVCN1_uc010syd.1_Silent_p.P39P	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	Homo sapiens hydrogen voltage-gated channel 1 (HVCN1), transcript variant 2, mRNA.	59					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						AGACTGGTGTGGGTGGTGGCT	0.622													23	64					0	0	1	0	0	C	111099098	G	C	111099098	2	2	192	1	0	0	0	0	0	0	0	1	7462	1335	47	5		5	HVCN1	12	111099098	Silent	SNP	G	TCGA-HT-7677-01A-11D-2253-08	58276592	111099098	22752797	34	8292											
UBC	7316	broad.mit.edu	37	chr12	125397147	125397147	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacctcgagagtgatggtctTaccagtcagggtcttcacga	9	10	11	11	2	4	2	2	1	2	1	5	4	4	2	2	2	1	0	2	2	1	2			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:125397147T>C	uc001ugs.4	-	1	1629	c.1171A>G	c.(1171-1173)Aag>Gag	p.K391E	UBC_uc001ugr.3_Intron|UBC_uc001ugt.3_Intron|UBC_uc001ugu.1_Intron|UBC_uc001ugv.3_Intron|UBC_uc021rge.1_Missense_Mutation_p.K391E	NM_021009	NP_066289	P0CG48	UBC_HUMAN	Homo sapiens ubiquitin C (UBC), mRNA.	391	Ubiquitin-like 6.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GTGATGGTCTTACCAGTCAGG	0.527													36	510					0	0	1	0	0	C	125397147	T	C	125397147	3	2	192	1	0	0	0	0	1	0	0	0	16839	1763	61	3	890	3	UBC	12	125397147	Missense_Mutation	SNP	T	TCGA-HT-7677-01A-11D-2253-08	14298049	125397147	8454748	35	8293											
OXGR1	27199	broad.mit.edu	37	chr13	97639669	97639669	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgctgctatacaggttGaaatggaagctgaagcggat	13	9	14	5	1	0	2	0	2	0	0	0	5	0	5	0	4	5	4	0	4	5	3			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr13:97639669G>T	uc001vmx.1	-	3	589	c.345C>A	c.(343-345)ttC>ttA	p.F115L	OXGR1_uc010afr.1_Missense_Mutation_p.F115L|OXGR1_uc021rlr.1_Missense_Mutation_p.F115L	NM_080818	NP_543008	Q96P68	OXGR1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) receptor 1 (OXGR1), mRNA.	115						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			TATACAGGTTGAAATGGAAGC	0.453													3	55					0.150653	0.153123	1	1	0	T	97639669	G	T	97639669	3	4	192	1	0	0	0	0	1	0	0	0	11332	1281	45	5	672	5	OXGR1	13	97639669	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08		97639669	17530209	36	8294											
PTPN9	5780	broad.mit.edu	37	chr15	75761319	75761319	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagatgtccagtgagcagaAggtacctgaagaaggaagga	15	5	15	6	0	0	5	0	2	0	3	1	7	1	7	2	3	2	3	2	3	5	1			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr15:75761319A>C	uc002bal.3	-	12	2081	c.1573T>G	c.(1573-1575)Ttc>Gtc	p.F525V		NM_002833	NP_002824	P43378	PTN9_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 9 (PTPN9), mRNA.	525	Tyrosine-protein phosphatase.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGTGAGCAGAAGGTACCTGAA	0.512													14	20					0	0	1	0	0	C	75761319	A	C	75761319	3	2	192	1	0	0	0	0	1	0	0	0	12794	72	3	5	212	5	PTPN9	15	75761319	Missense_Mutation	SNP	A	TCGA-HT-7677-01A-11D-2253-08		75761319	26770073	37	8295											
TRAF7	84231	broad.mit.edu	37	chr16	2223509	2223509	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgaaaaccagagcaagcTcagcgaggacctcatggagt	14	4	13	10	2	2	1	2	0	0	1	2	6	2	4	2	3	4	2	2	3	3	0			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr16:2223509T>C	uc002cow.3	+	10	1139	c.1040T>C	c.(1039-1041)cTc>cCc	p.L347P		NM_032271	NP_115647	Q6Q0C0	TRAF7_HUMAN	Homo sapiens TNF receptor-associated factor 7 (TRAF7), mRNA.	347					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						CAGAGCAAGCTCAGCGAGGAC	0.682													34	57					0	0	1	0	0	C	2223509	T	C	2223509	3	2	192	1	0	0	0	0	1	0	0	0	16443	1551	54	4	1078	4	TRAF7	16	2223509	Missense_Mutation	SNP	T	TCGA-HT-7677-01A-11D-2253-08		2223509	88131244	38	8296											
SIAH1	6477	broad.mit.edu	37	chr16	48396223	48396224	+	Frame_Shift_Del	DEL	AA	AA	-																															tcaaagcagactggacactcAaaaagactcgccaagtcatt																										TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr16:48396223_48396224delAA	uc021ths.1	-	0	116_117	c.116_117delTT	c.(115-117)tttfs	p.F39fs	MIR548AE2_uc021thr.1_Intron|LOC100507577_uc002efk.2_Non-coding_Transcript|SIAH1_uc002efl.3_Non-coding_Transcript|SIAH1_uc002efn.1_Frame_Shift_Del_p.F70fs|SIAH1_uc002efo.1_Frame_Shift_Del_p.F39fs|LOC100507577_uc021tht.1_Non-coding_Transcript	NM_003031	NP_003022	Q8IUQ4	SIAH1_HUMAN	Homo sapiens seven in absentia homolog 1 (Drosophila) (SIAH1), transcript variant 1, mRNA.	39					axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				CTGGACACTCAAAAAGACTCGC	0.51													7	102	---	---	---	---						-	48396224	AA	-	48396223	7	5	192	1	0	1	0	1	0	0	0	0	14299	127	5	0	735	0	SIAH1	16	48396223	Frame_Shift_Del	DEL	AA	TCGA-HT-7677-01A-11D-2253-08	46172714	48396223	41958530	39	8297											
DHODH	1723	broad.mit.edu	37	chr16	72057134	72057134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcctccagggtgccctgcGctctgaaacaggagggctga	7	6	16	12	1	1	2	0	2	1	0	2	3	2	3	3	4	3	2	3	4	1	0			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr16:72057134G>A	uc002fbp.3	+	6	911	c.890G>A	c.(889-891)cGc>cAc	p.R297H		NM_001361	NP_001352	Q02127	PYRD_HUMAN	Homo sapiens dihydroorotate dehydrogenase (quinone) (DHODH), nuclear gene encoding mitochondrial protein, mRNA.	297					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity	p.R297C(1)		breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	GGTGCCCTGCGCTCTGAAACA	0.562													4	88					0	0	1	0	0	A	72057134	G	A	72057134	3	1	192	1	0	0	0	0	1	0	0	0	4484	1087	38	1	916	1	DHODH	16	72057134	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	23660911	72057134	18297619	40	8298											
IL17C	27189	broad.mit.edu	37	chr16	88705399	88705399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtttcaccagctcctccccgGcctcctgtttctgacctggc	3	12	8	18	1	2	1	1	1	1	0	5	1	5	1	7	2	1	3	7	2	0	2			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr16:88705399G>A	uc002fla.3	+	1	66	c.17G>A	c.(16-18)gGc>gAc	p.G6D		NM_013278	NP_037410	Q9P0M4	IL17C_HUMAN	Homo sapiens interleukin 17C (IL17C), mRNA.	6					cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CTCCTCCCCGGCCTCCTGTTT	0.642													50	199					0	0	1	0	0	A	88705399	G	A	88705399	3	1	192	1	0	0	0	0	1	0	0	0	7636	1203	42	3	23	3	IL17C	16	88705399	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	16648265	88705399	1649354	41	8299											
TBX2	6909	broad.mit.edu	37	chr17	59482747	59482748	+	Frame_Shift_Ins	INS	-	-	G																															aggagccggccgagagcggcINSggggacggcccgttcggcct																										TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr17:59482747_59482748insG	uc010wox.2	+	5	1517_1518	c.1236_1237insG	c.(1234-1239)ggcgggfs	p.G412fs	TBX2_uc002ize.3_3'UTR|TBX2_uc002izg.3_Frame_Shift_Ins_p.G258fs	NM_005994	NP_005985	Q13207	TBX2_HUMAN	Homo sapiens T-box 2 (TBX2), mRNA.	412					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						CCGAGAGCGGCGGGGACGGCCC	0.748													2	4	---	---	---	---						G	59482748	-	G	59482747	7	5	192	1	0	1	1	0	0	0	0	0	15652	755	27	0	1258	0	TBX2	17	59482747	Frame_Shift_Ins	INS	-	TCGA-HT-7677-01A-11D-2253-08		59482747	21712463	42	8300											
DSC2	1824	broad.mit.edu	37	chr18	28650804	28650804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaagccccacagaccagcGtaaacaggatgcctggagga	14	3	12	12	1	0	2	0	0	0	2	0	5	0	5	4	3	4	1	4	3	3	1			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr18:28650804G>A	uc002kwl.4	-	13	2592	c.2138C>T	c.(2137-2139)aCg>aTg	p.T713M	DSC2_uc002kwk.4_Missense_Mutation_p.T713M	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	713					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ACAGACCAGCGTAAACAGGAT	0.363													11	52					0	0	1	0	0	A	28650804	G	A	28650804	3	1	192	1	0	0	0	0	1	0	0	0	4766	1145	40	1	619	1	DSC2	18	28650804	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08		28650804	49426444	43	8301											
MIDN	90007	broad.mit.edu	37	chr19	1255053	1255053	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggggtcttctcagggacCttctctggtaggtgtcacag	5	11	14	11	1	4	0	2	0	3	0	6	1	4	1	2	5	0	1	2	5	1	3			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr19:1255053C>T	uc002lrp.3	+	5	1364	c.849C>T	c.(847-849)acC>acT	p.T283T		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	Homo sapiens midnolin (MIDN), mRNA.	283						nucleolus				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		TCTCAGGGACCTTCTCTGGTA	0.617													5	92					0	0	1	0	0	T	1255053	C	T	1255053	2	4	192	1	0	0	0	0	0	0	0	1	9579	668	24	3		3	MIDN	19	1255053	Silent	SNP	C	TCGA-HT-7677-01A-11D-2253-08		1255053	57873930	44	8302											
ZSWIM4	65249	broad.mit.edu	37	chr19	13939496	13939496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacgtaatgacctggcggcGgagggagatggtgcgctggc	8	6	19	8	4	0	2	0	1	0	1	0	5	0	3	1	6	2	2	1	6	2	1			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr19:13939496G>A	uc002mxh.1	+	11	2255	c.2066G>A	c.(2065-2067)cGg>cAg	p.R689Q	ZSWIM4_uc010xng.1_Missense_Mutation_p.R612Q	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	Homo sapiens zinc finger, SWIM-type containing 4 (ZSWIM4), mRNA.	689							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			ACCTGGCGGCGGAGGGAGATG	0.622													4	165					0	0	1	0	0	A	13939496	G	A	13939496	3	1	192	1	0	0	0	0	1	0	0	0	18240	1116	39	2	2112	2	ZSWIM4	19	13939496	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	12684443	13939496	45189487	45	8303											
OR7A17	26333	broad.mit.edu	37	chr19	14991283	14991284	+	Frame_Shift_Del	DEL	TT	TT	-																															ttcagagccctctttatgtcTttattcctcagactgtagat																										TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr19:14991283_14991284delTT	uc010xob.2	-	0	884_885	c.884_885delAA	c.(883-885)aaafs	p.K295fs		NM_030901	NP_112163	O14581	OR7AH_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 17 (OR7A17), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					TCTTTATGTCTTTATTCCTCAG	0.436													20	87	---	---	---	---						-	14991284	TT	-	14991283	7	5	192	1	0	1	0	1	0	0	0	0	11215	1606	56	0	46	0	OR7A17	19	14991283	Frame_Shift_Del	DEL	TT	TCGA-HT-7677-01A-11D-2253-08	1051787	14991283	44137700	46	8304											
FCHO1	23149	broad.mit.edu	37	chr19	17886277	17886277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcccctagacatgtccagagGtggatgaagaaggtttcact	11	10	11	9	0	1	4	1	1	0	3	3	5	3	5	3	3	0	1	3	3	3	2			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr19:17886277G>A	uc002nhg.3	+	14	1237	c.958G>A	c.(958-960)Gtg>Atg	p.V320M	FCHO1_uc010ebb.2_Missense_Mutation_p.V320M|FCHO1_uc002nhh.2_Missense_Mutation_p.V320M|FCHO1_uc010xpw.1_Missense_Mutation_p.V270M|FCHO1_uc010ebc.1_Missense_Mutation_p.V327M	NM_001161357	NP_001154829	O14526	FCHO1_HUMAN	Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA.	320										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						ATGTCCAGAGGTGGATGAAGA	0.597											OREG0025349	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	194					0	0	1	0	0	A	17886277	G	A	17886277	3	1	192	1	0	0	0	0	1	0	0	0	5787	1261	44	3	1004	3	FCHO1	19	17886277	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	2894994	17886277	41242706	47	8305											
CIC	23152	broad.mit.edu	37	chr19	42799051	42799051	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctgcagttgaagatccGtgaggtgcgccagaagatca	10	10	13	8	2	2	5	1	2	1	3	3	5	3	5	2	1	2	2	2	1	2	2			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr19:42799051G>T	uc002otf.1	+	19	4575	c.4535G>T	c.(4534-4536)cGt>cTt	p.R1512L		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TTGAAGATCCGTGAGGTGCGC	0.627			"Mis, F, S"		oligodendroglioma								52	25					2.53126e-37	2.85342e-37	1	1	0	T	42799051	G	T	42799051	3	4	192	1	0	0	0	0	1	0	0	0	3424	1145	40	5	4613	5	CIC	19	42799051	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	24912774	42799051	16329932	48	8306											
CA11	770	broad.mit.edu	37	chr19	49143394	49143394	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgatctgatgttccgagccGgctccgtcgcgagctccaaa	7	10	11	13	5	1	2	0	2	1	0	5	4	4	2	4	1	2	3	4	1	1	2			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr19:49143394G>A	uc002pjz.1	-	3	991	c.429C>T	c.(427-429)gcC>gcT	p.A143A	SEC1_uc010xzv.2_Intron|SEC1_uc002pka.3_Intron|SEC1_uc010xzw.2_Intron|SEC1_uc010ema.3_Intron|DBP_uc002pjx.4_5'Flank|DBP_uc002pjy.2_5'Flank|DBP_uc010elz.1_5'Flank	NM_001217	NP_001208	O75493	CAH11_HUMAN	Homo sapiens carbonic anhydrase XI (CA11), mRNA.	143						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		GTTCCGAGCCGGCTCCGTCGC	0.607													6	79					0	0	1	0	0	A	49143394	G	A	49143394	2	1	192	1	0	0	0	0	0	0	0	1	2512	1103	39	2		2	CA11	19	49143394	Silent	SNP	G	TCGA-HT-7677-01A-11D-2253-08	6344343	49143394	9985589	49	8307											
ADAMTS5	11096	broad.mit.edu	37	chr21	28302301	28302301	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcagctttgagccaatgatgCcgtcacagccagttctcaca	10	9	9	13	1	2	2	2	2	1	0	3	2	2	2	3	0	4	3	3	0	1	2			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr21:28302301C>G	uc002ymg.3	-	6	2858	c.2129G>C	c.(2128-2130)gGc>gCc	p.G710A		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	710	Cys-rich.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCCAATGATGCCGTCACAGCC	0.473													9	436					0	0	1	0	0	G	28302301	C	G	28302301	3	3	192	1	0	0	0	0	1	0	0	0	269	739	26	5	671	5	ADAMTS5	21	28302301	Missense_Mutation	SNP	C	TCGA-HT-7677-01A-11D-2253-08		28302301	19827594	50	8308											
MRAP	56246	broad.mit.edu	37	chr21	33684248	33684248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcaatgggggtcccctcGtcaggagcaagcccagcgag	8	5	13	15	2	2	0	2	0	0	0	4	2	3	1	4	3	3	1	4	3	2	0			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr21:33684248G>A	uc002ypj.3	+	4	647	c.460G>A	c.(460-462)Gtc>Atc	p.V154I	MRAP_uc002ypk.3_Intron|URB1_uc002ypn.2_3'UTR|MRAP_uc011ado.2_Missense_Mutation_p.V95I|MRAP_uc002ypl.3_Missense_Mutation_p.V154I	NM_178817	NP_848932	Q8TCY5	MRAP_HUMAN	Homo sapiens melanocortin 2 receptor accessory protein (MRAP), transcript variant 1, mRNA.	154					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding	p.L153L(1)		endometrium(1)|large_intestine(2)|lung(3)	6						GGGTCCCCTCGTCAGGAGCAA	0.602													33	45					0	0	1	0	0	A	33684248	G	A	33684248	3	1	192	1	0	0	0	0	1	0	0	0	9753	1145	40	1	470	1	MRAP	21	33684248	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	5381947	33684248	14445647	51	8309											
INSRR	3645	broad.mit.edu	37	chr1	156823629	156823629	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggctcaccagcagcaccCagcacaccagggcacacgtc	11	2	10	18	1	1	0	1	0	0	0	2	0	1	0	3	2	3	5	3	2	0	0			TCGA-HT-7680-01A-11D-2253-08	TCGA-HT-7680-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad1dd18-303c-4f67-ac35-4ab89739f2bd	58445e52-52f3-46b7-ad9e-545dc18f369f	g.chr1:156823629C>T	uc010pht.2	-	1	851	c.552G>A	c.(550-552)ctG>ctA	p.L184L	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.2_Silent_p.L184L	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	184					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGCAGCACCCAGCACACCAG	0.637													27	40					0	0	1	0	0	T	156823629	C	T	156823629	2	4	193	1	0	0	0	0	0	0	0	1	7774	581	21	3		3	INSRR	1	156823629	Silent	SNP	C	TCGA-HT-7680-01A-11D-2253-08		156823629	92426992	1	8310											
CD244	51744	broad.mit.edu	37	chr1	160811160	160811160	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggatcagcttgctccctctGtaccaagcataggacacatt	10	11	8	12	0	2	0	1	0	1	0	3	2	3	2	2	2	4	4	2	2	3	4			TCGA-HT-7680-01A-11D-2253-08	TCGA-HT-7680-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad1dd18-303c-4f67-ac35-4ab89739f2bd	58445e52-52f3-46b7-ad9e-545dc18f369f	g.chr1:160811160G>A	uc009wtq.3	-	2	735	c.510C>T	c.(508-510)taC>taT	p.Y170Y	CD244_uc001fxa.3_Silent_p.Y165Y|CD244_uc009wtr.3_Intron|CD244_uc009wtp.3_Non-coding_Transcript|CD244_uc010pjt.2_Non-coding_Transcript	NM_001166663	NP_001160135	Q9BZW8	CD244_HUMAN	Homo sapiens CD244 molecule, natural killer cell receptor 2B4 (CD244), transcript variant 2, mRNA.	170	Ig-like 2.				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TGCTCCCTCTGTACCAAGCAT	0.547													64	121					0	0	1	0	0	A	160811160	G	A	160811160	2	1	193	1	0	0	0	0	0	0	0	1	2987	1372	48	3		3	CD244	1	160811160	Silent	SNP	G	TCGA-HT-7680-01A-11D-2253-08	3987531	160811160	88439461	2	8311											
EP400	57634	broad.mit.edu	37	chr12	132547141	132547141	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcagcagcagcaacagacgac	16	0	11	14	1	0	1	0	0	0	1	0	2	0	1	0	0	11	9	0	0	2	0			TCGA-HT-7680-01A-11D-2253-08	TCGA-HT-7680-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad1dd18-303c-4f67-ac35-4ab89739f2bd	58445e52-52f3-46b7-ad9e-545dc18f369f	g.chr12:132547141G>A	uc001ujn.3	+	46	8381	c.8229G>A	c.(8227-8229)caG>caA	p.Q2743Q	EP400_uc021rgq.1_Silent_p.Q2742Q|EP400_uc001ujm.3_Silent_p.Q2662Q|EP400_uc001ujp.3_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2779	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2742Q(4)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597													3	42					0	0	1	0	0	A	132547141	G	A	132547141	2	1	193	1	0	0	0	0	0	0	0	1	5149	962	34	3		3	EP400	12	132547141	Silent	SNP	G	TCGA-HT-7680-01A-11D-2253-08		132547141	1304754	3	8312											
LRRK1	79705	broad.mit.edu	37	chr15	101514014	101514014	+	Frame_Shift_Del	DEL	G	G	-																															cttcctcccgcgcaggtgccGgggacacgggcggcaagccg																										TCGA-HT-7680-01A-11D-2253-08	TCGA-HT-7680-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad1dd18-303c-4f67-ac35-4ab89739f2bd	58445e52-52f3-46b7-ad9e-545dc18f369f	g.chr15:101514014delG	uc002bwr.3	+	2	422	c.103delG	c.(103-105)gggfs	p.G35fs	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bwq.1_Frame_Shift_Del_p.G35fs	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	35					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGCAGGTGCCGGGGACACGGG	0.741													2	4	---	---	---	---						-	101514014	G	-	101514014	7	5	193	1	0	1	0	1	0	0	0	0	9032	1116	39	0	109	0	LRRK1	15	101514014	Frame_Shift_Del	DEL	G	TCGA-HT-7680-01A-11D-2253-08		101514014	1017378	4	8313											
SIPA1L3	23094	broad.mit.edu	37	chr19	38572367	38572368	+	In_Frame_Ins	INS	-	-	GCCACC																															agcctcttggcgagagcccgINSgccaccgccaccgccaccgc																										TCGA-HT-7680-01A-11D-2253-08	TCGA-HT-7680-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad1dd18-303c-4f67-ac35-4ab89739f2bd	58445e52-52f3-46b7-ad9e-545dc18f369f	g.chr19:38572367_38572368insGCCACC	uc002ohk.3	+	2	671_672	c.162_163insGCCACC	c.(160-165)insGCCACC	p.64_65insAT		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	64					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCGAGAGCCCGgccaccgccac	0.718													5	11	---	---	---	---						GCCACC	38572368	-	GCCACC	38572367	7	5	193	1	0	1	1	0	0	0	0	0	14331	1103	39	0	164	0	SIPA1L3	19	38572367	In_Frame_Ins	INS	-	TCGA-HT-7680-01A-11D-2253-08		38572367	20556616	5	8314											
PRR12	57479	broad.mit.edu	37	chr19	50105084	50105084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcagtgtgtggggagaCggacgaggaggccggcgaga	8	3	23	7	5	0	2	0	0	0	2	0	7	0	4	1	8	0	1	1	8	0	0			TCGA-HT-7680-01A-11D-2253-08	TCGA-HT-7680-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad1dd18-303c-4f67-ac35-4ab89739f2bd	58445e52-52f3-46b7-ad9e-545dc18f369f	g.chr19:50105084C>T	uc002poo.4	+	5	4682	c.4682C>T	c.(4681-4683)aCg>aTg	p.T1561M		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	740							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TGTGGGGAGACGGACGAGGAG	0.682													16	29					0	0	1	0	0	T	50105084	C	T	50105084	3	4	193	1	0	0	0	0	1	0	0	0	12584	536	19	1	4704	1	PRR12	19	50105084	Missense_Mutation	SNP	C	TCGA-HT-7680-01A-11D-2253-08	11532717	50105084	9023899	6	8315											
SEPT6	23157	broad.mit.edu	37	chrX	118771068	118771068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgatacagctcatagtgcCgggtgtgggtctgctcccgc	5	9	15	12	3	2	0	1	0	1	0	3	1	3	0	2	3	4	2	2	3	2	2			TCGA-HT-7680-01A-11D-2253-08	TCGA-HT-7680-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad1dd18-303c-4f67-ac35-4ab89739f2bd	58445e52-52f3-46b7-ad9e-545dc18f369f	g.chrX:118771068C>T	uc004erv.3	-	6	1143	c.878G>A	c.(877-879)cGg>cAg	p.R293Q	SEPT6_uc010nqk.3_Intron|SEPT6_uc004ers.3_Missense_Mutation_p.R293Q|SEPT6_uc004ert.3_Missense_Mutation_p.R293Q|SEPT6_uc004eru.3_Missense_Mutation_p.R293Q|SEPT6_uc004erw.3_Missense_Mutation_p.R235Q|SEPT6_uc011mtv.1_Missense_Mutation_p.R235Q|SEPT6_uc011mtw.1_Missense_Mutation_p.R323Q	NM_015129	NP_055944	Q14141	SEPT6_HUMAN	Homo sapiens septin 6 (SEPT6), transcript variant II, mRNA.	293					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						CTCATAGTGCCGGGTGTGGGT	0.587			T	MLL	AML								7	174					0	0	1	0	0	T	118771068	C	T	118771068	3	4	193	1	0	0	0	0	1	0	0	0	14068	652	23	2	464	2	SEPT6	23	118771068	Missense_Mutation	SNP	C	TCGA-HT-7680-01A-11D-2253-08		118771068	36499492	7	8316											
ZNF687	57592	broad.mit.edu	37	chr1	151258917	151258917	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaccaggtgtaggaagtgaAtctgaagacacagcagcagc	15	5	13	8	0	1	3	0	2	1	1	1	5	1	4	1	2	4	3	1	2	5	1			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr1:151258917A>G	uc001exq.3	+	1	248	c.150A>G	c.(148-150)gaA>gaG	p.E50E	ZNF687_uc001exp.1_Silent_p.E59E|ZNF687_uc009wmo.3_Silent_p.E50E|ZNF687_uc009wmp.3_Silent_p.E50E	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	Homo sapiens zinc finger protein 687 (ZNF687), mRNA.	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TAGGAAGTGAATCTGAAGACA	0.572													32	53					0	0	1	0	0	G	151258917	A	G	151258917	2	3	194	1	0	0	0	0	0	0	0	1	18089	98	4	3		3	ZNF687	1	151258917	Silent	SNP	A	TCGA-HT-7681-01A-11D-2395-08		151258917	97991704	1	8317											
BCAN	63827	broad.mit.edu	37	chr1	156628820	156628820	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagtgtgtgtcttccccaggCccgagctctgcacccagagg	6	8	13	14	1	2	1	0	0	2	1	3	3	3	1	4	2	2	2	4	2	0	1			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr1:156628820C>A	uc001fpp.3	+	14	2965	c.2629_splice	c.e14-1	p.A877_splice		NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	Homo sapiens brevican (BCAN), transcript variant 1, mRNA.	877					cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTCCCCAGGCCCGAGCTCTG	0.627													2	6					0.0016	0.0016	1	1	0	A	156628820	C	A	156628820	5	1	194	1	0	0	0	0	0	0	1	0	1345	753	26	5	2754	5	BCAN	1	156628820	Splice_Site	SNP	C	TCGA-HT-7681-01A-11D-2395-08	5369903	156628820	92621801	2	8318											
RNPEP	6051	broad.mit.edu	37	chr1	201966606	201966606	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgggaacctggtcaccaaCgccaactggggtgaattctg	9	10	12	10	1	2	1	1	1	1	0	2	2	2	2	3	4	3	0	3	4	4	2			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr1:201966606C>T	uc001gxd.3	+	4	1043	c.1014C>T	c.(1012-1014)aaC>aaT	p.N338N	RNPEP_uc001gxe.3_Silent_p.N39N	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN	Homo sapiens arginyl aminopeptidase (aminopeptidase B) (RNPEP), mRNA.	338					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TGGTCACCAACGCCAACTGGG	0.547													6	94					0	0	1	0	0	T	201966606	C	T	201966606	2	4	194	1	0	0	0	0	0	0	0	1	13509	535	19	1		1	RNPEP	1	201966606	Silent	SNP	C	TCGA-HT-7681-01A-11D-2395-08	45337786	201966606	47284015	3	8319											
OXER1	165140	broad.mit.edu	37	chr2	42990225	42990225	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggcccagcaaggcccggctCtggtggaggaagttggggct	7	6	18	10	1	1	0	0	0	1	0	1	2	1	2	2	8	1	4	2	8	2	1	rs143944527	byFrequency	TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr2:42990225C>G	uc002rss.3	-	0	1177	c.1095G>C	c.(1093-1095)caG>caC	p.Q365H		NM_148962	NP_683765	Q8TDS5	OXER1_HUMAN	Homo sapiens oxoeicosanoid (OXE) receptor 1 (OXER1), mRNA.	365					regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						AGGCCCGGCTCTGGTGGAGGA	0.652													4	49					0	0	1	0	0	G	42990225	C	G	42990225	3	3	194	1	0	0	0	0	1	0	0	0	11331	912	32	5	180	5	OXER1	2	42990225	Missense_Mutation	SNP	C	TCGA-HT-7681-01A-11D-2395-08		42990225	200209148	4	8320											
MLL2	8085	broad.mit.edu	37	chr12	49416133	49416133	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcggaacatgtagatgcctcGattctagaaaggcagaggtt	12	10	12	7	2	1	3	0	0	1	3	3	5	1	4	1	3	2	3	1	3	4	4			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr12:49416133G>A	uc001rta.4	-	51	16342	c.16342C>T	c.(16342-16344)Cga>Tga	p.R5448*		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	5448	SET.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TAGATGCCTCGATTCTAGAAA	0.517			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			9	11					0	0	1	0	0	A	49416133	G	A	49416133	4	1	194	1	0	0	0	0	0	1	0	0	9621	1066	37	2	283	2	MLL2	12	49416133	Nonsense_Mutation	SNP	G	TCGA-HT-7681-01A-11D-2395-08		49416133	84435762	5	8321											
BRCA2	675	broad.mit.edu	37	chr13	32911765	32911765	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catataacccctcagatgttAttttccaagcaggattttaa	13	14	5	9	0	1	1	1	0	0	1	2	2	2	2	3	1	2	2	3	1	5	7	rs80359382		TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr13:32911765A>C	uc001uub.1	+	10	3500	c.3273A>C	c.(3271-3273)ttA>ttC	p.L1091F		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	1091					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTCAGATGTTATTTTCCAAGC	0.333			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			27	59					0	0	1	0	0	C	32911765	A	C	32911765	3	2	194	1	0	0	0	0	1	0	0	0	1499	446	16	5	3311	5	BRCA2	13	32911765	Missense_Mutation	SNP	A	TCGA-HT-7681-01A-11D-2395-08		32911765	82258113	6	8322											
OR11H6	122748	broad.mit.edu	37	chr14	20692083	20692083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtgaaattggacaggcGgctccacacacccatgtaca	12	7	10	12	1	0	1	0	1	0	0	1	2	1	2	2	3	2	3	2	3	2	2			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr14:20692083G>A	uc010tlc.2	+	0	215	c.215G>A	c.(214-216)cGg>cAg	p.R72Q		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA.	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TTGGACAGGCGGCTCCACACA	0.478													22	86					0	0	1	0	0	A	20692083	G	A	20692083	3	1	194	1	0	0	0	0	1	0	0	0	10929	1116	39	2	217	2	OR11H6	14	20692083	Missense_Mutation	SNP	G	TCGA-HT-7681-01A-11D-2395-08		20692083	86657457	7	8323											
SAMD4A	23034	broad.mit.edu	37	chr14	55236839	55236840	+	Frame_Shift_Ins	INS	-	-	A																															aggcatttacagagacacagINSaaaaaaagattgttgtcatg																										TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr14:55236839_55236840insA	uc001xbb.3	+	7	1919_1920	c.1611_1612insA	c.(1609-1614)cagaaafs	p.Q537fs	SAMD4A_uc001xbc.3_Frame_Shift_Ins_p.Q450fs|SAMD4A_uc001xbg.2_Frame_Shift_Ins_p.Q129fs	NM_015589	NP_056404	Q9UPU9	SMAG1_HUMAN	Homo sapiens sterile alpha motif domain containing 4A (SAMD4A), transcript variant 1, mRNA.	538					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CAGAGACACAGAAAAAAAGATT	0.416													26	99	---	---	---	---						A	55236840	-	A	55236839	7	5	194	1	0	1	1	0	0	0	0	0	13821	933	33	0	1641	0	SAMD4A	14	55236839	Frame_Shift_Ins	INS	-	TCGA-HT-7681-01A-11D-2395-08	34544756	55236839	52112701	8	8324											
C14orf118	55668	broad.mit.edu	37	chr14	76668100	76668100	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaatcacccagctctgagtGgttggtgaggacctctgcag	9	9	12	11	0	3	2	1	2	2	0	3	3	3	3	2	3	2	3	2	3	1	1			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr14:76668100G>A	uc001xsh.3	+	9	1441	c.1355G>A	c.(1354-1356)tGg>tAg	p.W452*	C14orf118_uc001xsi.3_Nonsense_Mutation_p.W447*|C14orf118_uc001xsl.3_Non-coding_Transcript|C14orf118_uc001xsn.1_Non-coding_Transcript	NM_017926	NP_060396	Q9NWQ4	CN118_HUMAN	Homo sapiens chromosome 14 open reading frame 118 (C14orf118), transcript variant 1, mRNA.	452										endometrium(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|skin(2)	16				BRCA - Breast invasive adenocarcinoma(234;0.0172)		AGCTCTGAGTGGTTGGTGAGG	0.488													14	56					0	0	1	0	0	A	76668100	G	A	76668100	4	1	194	1	0	0	0	0	0	1	0	0	1741	1357	47	3	1433	3	C14orf118	14	76668100	Nonsense_Mutation	SNP	G	TCGA-HT-7681-01A-11D-2395-08	21431261	76668100	30681440	9	8325											
INF2	64423	broad.mit.edu	37	chr14	105174321	105174321	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agctgaactggcagaagctgCcatccaacgtggcacgtggt	10	7	13	11	2	0	2	0	1	0	1	1	2	1	2	2	3	5	4	2	3	3	0			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr14:105174321C>T	uc001ypb.2	+	7	1860	c.1717C>T	c.(1717-1719)Cca>Tca	p.P573S	INF2_uc001ypc.2_Missense_Mutation_p.P573S|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	573	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		GCAGAAGCTGCCATCCAACGT	0.657													19	38					0	0	1	0	0	T	105174321	C	T	105174321	3	4	194	1	0	0	0	0	1	0	0	0	7734	739	26	3	1747	3	INF2	14	105174321	Missense_Mutation	SNP	C	TCGA-HT-7681-01A-11D-2395-08	28506221	105174321	2175219	10	8326											
IDH2	3418	broad.mit.edu	37	chr15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcgccatgggcgtgcCtgccaatggtgatgggcttg	4	10	16	11	2	0	1	0	1	0	0	1	1	0	1	4	4	2	1	4	4	1	1	rs121913503		TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr15:90631838C>T	uc002box.3	-	3	601	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_uc010uqb.2_Missense_Mutation_p.R120K|IDH2_uc010uqc.2_Missense_Mutation_p.R42K	NM_002168	NP_002159	P48735	IDHP_HUMAN	Homo sapiens isocitrate dehydrogenase 2 (NADP+), mitochondrial (IDH2), nuclear gene encoding mitochondrial protein, mRNA.	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding	p.R172K(358)|p.R172M(44)|p.R172S(18)|p.R172W(16)|p.R172?(13)|p.R172G(5)|p.G171D(4)|p.R172N(2)|p.R172L(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								22	53					0	0	1	0	0	T	90631838	C	T	90631838	3	4	194	1	0	0	0	0	1	0	0	0	7495	681	24	3	875	3	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-HT-7681-01A-11D-2395-08		90631838	11899554	11	8327											
FBXL19	54620	broad.mit.edu	37	chr16	30939204	30939204	+	Frame_Shift_Del	DEL	C	C	-																															agggccccctgcctgccgggCcccccccggaggacgtgcct																										TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr16:30939204delC	uc002eab.2	+	4	765	c.607delC	c.(607-609)cccfs	p.P203fs	FBXL19_uc002dzz.1_5'UTR|FBXL19_uc002eaa.1_Frame_Shift_Del_p.P145fs	NM_001099784	NP_001093254	Q6PCT2	FXL19_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 19 (FBXL19), mRNA.	203	Pro-rich.						DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GCCTGCCGGGCCCCCCCCGGA	0.711													2	4	---	---	---	---						-	30939204	C	-	30939204	7	5	194	1	0	1	0	1	0	0	0	0	5715	739	26	0	625	0	FBXL19	16	30939204	Frame_Shift_Del	DEL	C	TCGA-HT-7681-01A-11D-2395-08		30939204	59415549	12	8328											
ABCA8	10351	broad.mit.edu	37	chr17	66914237	66914237	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtactgaagaggatcacGcggtctgttttgcgttcttt	6	15	13	7	3	3	2	1	1	2	1	3	3	3	3	0	3	2	3	0	3	2	5			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr17:66914237G>A	uc002jhq.3	-	15	2338	c.1998C>T	c.(1996-1998)cgC>cgT	p.R666R	ABCA8_uc002jhp.3_Silent_p.R626R|ABCA8_uc010wqq.2_Silent_p.R666R|ABCA8_uc010wqr.2_Silent_p.R605R|ABCA8_uc002jhr.3_Silent_p.R666R	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	626	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AGAGGATCACGCGGTCTGTTT	0.453													6	76					0	0	1	0	0	A	66914237	G	A	66914237	2	1	194	1	0	0	0	0	0	0	0	1	38	1074	38	1		1	ABCA8	17	66914237	Silent	SNP	G	TCGA-HT-7681-01A-11D-2395-08		66914237	14280973	13	8329											
CIC	23152	broad.mit.edu	37	chr19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcttcagcaagcggcacCgggccctggtccaccagcgt	7	7	12	15	3	2	1	1	1	1	0	3	1	3	1	4	3	3	2	4	3	1	1			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr19:42791757C>T	uc002otf.1	+	4	683	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215W(8)|p.R215Q(2)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612			"Mis, F, S"		oligodendroglioma								18	40					0	0	1	0	0	T	42791757	C	T	42791757	3	4	194	1	0	0	0	0	1	0	0	0	3424	643	23	2	661	2	CIC	19	42791757	Missense_Mutation	SNP	C	TCGA-HT-7681-01A-11D-2395-08		42791757	16337226	14	8330											
IL2RB	3560	broad.mit.edu	37	chr22	37524372	37524372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggactcctggggtgggagGccccaggggctgggggtccc	3	6	21	11	0	0	0	0	0	0	0	2	2	2	2	4	9	0	1	4	9	0	0			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr22:37524372G>A	uc003aqv.1	-	9	1551	c.1420C>T	c.(1420-1422)Cct>Tct	p.P474S		NM_000878	NP_000869	P14784	IL2RB_HUMAN	Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA.	474					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGGGTGGGAGGCCCCAGGGGC	0.677													22	43					0	0	1	0	0	A	37524372	G	A	37524372	3	1	194	1	0	0	0	0	1	0	0	0	7687	1203	42	3	239	3	IL2RB	22	37524372	Missense_Mutation	SNP	G	TCGA-HT-7681-01A-11D-2395-08		37524372	13780194	15	8331											
SYAP1	94056	broad.mit.edu	37	chrX	16774794	16774794	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcacttcttagaggcagtaCggcccaaaacgccacccgtt	10	8	8	15	3	2	1	1	0	1	1	2	1	2	1	3	2	2	3	3	2	4	4			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chrX:16774794C>A	uc004cxp.3	+	6	874	c.733C>A	c.(733-735)Cgg>Agg	p.R245R	SYAP1_uc011miv.2_Silent_p.R211R	NM_032796	NP_116185	Q96A49	SYAP1_HUMAN	Homo sapiens synapse associated protein 1 (SYAP1), transcript variant 1, mRNA.	245										endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10	Hepatocellular(33;0.0997)					AGAGGCAGTACGGCCCAAAAC	0.343													9	36					7.48243e-07	7.7025e-07	1	1	0	A	16774794	C	A	16774794	2	1	194	1	0	0	0	0	0	0	0	1	15423	527	19	5		5	SYAP1	23	16774794	Silent	SNP	C	TCGA-HT-7681-01A-11D-2395-08		16774794	138495766	16	8332											
MORF4L2	9643	broad.mit.edu	37	chrX	102931856	102931856	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctgaggaggcccctctcaTtttacttctctgcatgttgc	5	15	8	13	0	2	1	1	1	2	0	5	2	3	2	3	2	3	2	3	2	1	4			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chrX:102931856T>C	uc022cbw.1	-	0	100	c.100A>G	c.(100-102)Atg>Gtg	p.M34V	MORF4L2_uc004ekw.3_Missense_Mutation_p.M34V|MORF4L2_uc004ela.3_Missense_Mutation_p.M34V|MORF4L2_uc004elb.3_Missense_Mutation_p.M34V|MORF4L2_uc004ekx.3_Missense_Mutation_p.M34V|MORF4L2_uc004eky.3_Missense_Mutation_p.M34V|MORF4L2_uc010nos.3_Missense_Mutation_p.M34V|MORF4L2_uc004ekz.3_Missense_Mutation_p.M34V|MORF4L2_uc011mry.2_Missense_Mutation_p.M34V|MORF4L2_uc011mrz.2_Missense_Mutation_p.M34V|MORF4L2_uc004elc.3_Missense_Mutation_p.M34V|MORF4L2_uc004ele.3_Missense_Mutation_p.M34V|MORF4L2_uc004elf.3_Missense_Mutation_p.M34V|MORF4L2_uc011msa.2_Missense_Mutation_p.M34V|MORF4L2_uc011msb.2_Missense_Mutation_p.M34V|MORF4L2_uc011msc.2_Missense_Mutation_p.M34V|MORF4L2_uc011msd.2_Missense_Mutation_p.M34V|MORF4L2_uc004eld.3_Missense_Mutation_p.M34V	NM_012286	NP_036418	Q15014	MO4L2_HUMAN	Homo sapiens mortality factor 4 like 2 (MORF4L2), transcript variant 2, mRNA.	34					DNA repair|chromatin modification|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						GCCCCTCTCATTTTACTTCTC	0.488													52	61					0	0	1	0	0	C	102931856	T	C	102931856	3	2	194	1	0	0	0	0	1	0	0	0	9707	1493	52	3	770	3	MORF4L2	23	102931856	Missense_Mutation	SNP	T	TCGA-HT-7681-01A-11D-2395-08	86157062	102931856	52338704	17	8333											
AFF2	2334	broad.mit.edu	37	chrX	148049222	148049222	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcacaaagctgatgcactGgtaagtttcctttttctcat	11	14	7	9	0	1	1	1	1	1	0	3	1	2	1	1	1	3	5	1	1	3	4			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chrX:148049222G>T	uc004fcp.3	+	15	3746	c.3267_splice	c.e15+1	p.L1089_splice	AFF2_uc004fcq.3_Splice_Site_p.L1079_splice|AFF2_uc004fcr.3_Splice_Site_p.L1050_splice|AFF2_uc011mxb.2_Splice_Site_p.L1054_splice|AFF2_uc004fcs.3_Splice_Site_p.L1054_splice|AFF2_uc011mxc.2_Splice_Site_p.L730_splice	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	1089					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTGATGCACTGGTAAGTTTCC	0.348													20	45					2.37509e-13	2.51904e-13	1	1	0	T	148049222	G	T	148049222	5	4	194	1	0	0	0	0	0	0	1	0	357	1362	47	5	3380	5	AFF2	23	148049222	Splice_Site	SNP	G	TCGA-HT-7681-01A-11D-2395-08	45117366	148049222	7221338	18	8334											
ALG6	29929	broad.mit.edu	37	chr1	63876858	63876858	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttgctttgtggggtgttcTtggaatatcttgtgactgcg	4	18	13	6	1	2	1	0	1	2	0	2	2	2	2	0	3	2	2	0	3	2	6			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr1:63876858T>C	uc021oof.1	+	7	841	c.536T>C	c.(535-537)cTt>cCt	p.L179P	ALG6_uc010oox.2_5'UTR	NM_013339	NP_037471	Q9Y672	ALG6_HUMAN	Homo sapiens asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) (ALG6), mRNA.	179					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TGGGGTGTTCTTGGAATATCT	0.363													40	109					0	0	1	0	0	C	63876858	T	C	63876858	3	2	195	1	0	0	0	0	1	0	0	0	522	1609	56	4	562	4	ALG6	1	63876858	Missense_Mutation	SNP	T	TCGA-HT-7684-01A-11D-2253-08		63876858	185373763	1	8335											
C2orf16	84226	broad.mit.edu	37	chr2	27799838	27799838	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcagtttgcaaaatatgcAgagatgatcccacagccaaa	16	8	7	10	0	1	2	1	1	0	1	2	3	2	2	2	0	3	3	2	0	4	2			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr2:27799838A>T	uc002rkz.4	+	0	450	c.399A>T	c.(397-399)gcA>gcT	p.A133A		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	133										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAAAATATGCAGAGATGATCC	0.383													4	74					0	0	1	0	0	T	27799838	A	T	27799838	2	4	195	1	0	0	0	0	0	0	0	1	2157	175	7	5		5	C2orf16	2	27799838	Silent	SNP	A	TCGA-HT-7684-01A-11D-2253-08		27799838	215399535	2	8336											
LRP2	4036	broad.mit.edu	37	chr2	170038748	170038748	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgttggcatccacacagtgCtgggccagcatgcggcggtg	6	9	15	11	2	0	0	0	0	0	0	1	0	1	0	2	4	3	4	2	4	0	2			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr2:170038748C>T	uc002ues.3	-	50	10140	c.9927G>A	c.(9925-9927)caG>caA	p.Q3309Q		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3309					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCACACAGTGCTGGGCCAGCA	0.532													31	69					0	0	1	0	0	T	170038748	C	T	170038748	2	4	195	1	0	0	0	0	0	0	0	1	8956	796	28	3		3	LRP2	2	170038748	Silent	SNP	C	TCGA-HT-7684-01A-11D-2253-08	142238910	170038748	73160625	3	8337											
ANKAR	150709	broad.mit.edu	37	chr2	190585366	190585366	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggaatcccaagcctgataAatctattgaacttaaacata	17	11	5	8	0	1	2	0	2	1	0	2	3	2	3	2	1	3	0	2	1	9	5			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr2:190585366A>C	uc002uqw.2	+	11	2576	c.2488A>C	c.(2488-2490)Aat>Cat	p.N830H	ANKAR_uc002uqu.3_Intron|ANKAR_uc002uqx.2_Non-coding_Transcript	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	830						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AAGCCTGATAAATCTATTGAA	0.284													16	44					0	0	1	0	0	C	190585366	A	C	190585366	3	2	195	1	0	0	0	0	1	0	0	0	623	14	1	5	2530	5	ANKAR	2	190585366	Missense_Mutation	SNP	A	TCGA-HT-7684-01A-11D-2253-08	20546618	190585366	52614007	4	8338											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								28	34					0	0	1	0	0	T	209113112	C	T	209113112	3	4	195	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7684-01A-11D-2253-08	18527746	209113112	34086261	5	8339											
SETD2	29072	broad.mit.edu	37	chr3	47103767	47103767	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtctgggtctctctctcttGacctattaggagtcttcggg	4	16	11	10	1	5	1	0	1	5	0	8	2	5	2	1	3	0	0	1	3	2	4			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr3:47103767G>C	uc003cqv.3	-	14	6466	c.6380C>G	c.(6379-6381)tCa>tGa	p.S2127*	SETD2_uc003cqs.3_Nonsense_Mutation_p.S2060*|SETD2_uc003cqt.1_Non-coding_Transcript	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	2060					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCTCTCTCTTGACCTATTAGG	0.463			"N, F, S, Mis"		clear cell renal carcinoma								6	128					0	0	1	0	0	C	47103767	G	C	47103767	4	2	195	1	0	0	0	0	0	1	0	0	14131	1294	45	5	1547	5	SETD2	3	47103767	Nonsense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08		47103767	150918663	6	8340											
CCDC54	84692	broad.mit.edu	37	chr3	107097101	107097101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatgaaaactctgaagaaaCgtaaccatcaaaatgcatca	21	7	5	8	1	3	3	2	2	1	1	3	3	3	3	1	0	4	2	1	0	8	1			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr3:107097101C>T	uc003dwi.1	+	0	914	c.667C>T	c.(667-669)Cgt>Tgt	p.R223C		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.	223										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						TCTGAAGAAACGTAACCATCA	0.378													27	36					0	0	1	0	0	T	107097101	C	T	107097101	3	4	195	1	0	0	0	0	1	0	0	0	2824	536	19	1	669	1	CCDC54	3	107097101	Missense_Mutation	SNP	C	TCGA-HT-7684-01A-11D-2253-08	59993334	107097101	90925329	7	8341											
TRPC7	57113	broad.mit.edu	37	chr5	135561020	135561020	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagattttcagaattcctcAtgccagcctggtagcgagtc	9	12	9	11	1	3	2	3	0	0	2	5	3	4	2	3	1	3	1	3	1	2	4			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr5:135561020A>G	uc003lbn.2	-	9	2507	c.2285T>C	c.(2284-2286)aTg>aCg	p.M762T	TRPC7_uc010jef.2_Missense_Mutation_p.M698T|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Missense_Mutation_p.M313T|TRPC7_uc010jeh.2_Missense_Mutation_p.M701T|TRPC7_uc010jei.2_Missense_Mutation_p.M646T	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	762					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGAATTCCTCATGCCAGCCTG	0.453													6	12					0	0	1	0	0	G	135561020	A	G	135561020	3	3	195	1	0	0	0	0	1	0	0	0	16581	217	8	3	315	3	TRPC7	5	135561020	Missense_Mutation	SNP	A	TCGA-HT-7684-01A-11D-2253-08		135561020	45354240	8	8342											
LY6G6F	259215	broad.mit.edu	37	chr6	31685399	31685399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatccagcctgcgtcgcaGcccatcattgcaatcaagtg	11	8	8	14	2	2	0	2	0	0	0	4	0	3	0	3	0	5	2	3	0	3	1			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr6:31685399G>A	uc003nwb.1	+	5	967	c.967G>A	c.(967-969)Gcc>Acc	p.A323T	LY6G6F_uc003nwf.1_Missense_Mutation_p.A74T|LY6G6F_uc003nwg.1_Missense_Mutation_p.A53T	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G6F (LY6G6F), mRNA.	0						integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						CTGCGTCGCAGCCCATCATTG	0.577													74	141					0	0	1	0	0	A	31685399	G	A	31685399	3	1	195	1	0	0	0	0	1	0	0	0	9096	971	34	3		3	LY6G6F	6	31685399	Missense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08		31685399	139429668	9	8343											
EEF1A1	1915	broad.mit.edu	37	chr6	74229668	74229668	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgccaccgcatttatagaTcagatggccagtagtggtgg	10	10	13	8	1	1	2	1	0	0	2	1	3	1	2	3	3	1	2	3	3	3	4			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr6:74229668T>C	uc003phi.3	-	0	1074	c.82A>G	c.(82-84)Atc>Gtc	p.I28V	EEF1A1_uc003phj.3_Missense_Mutation_p.I28V|EEF1A1_uc021zbs.1_Non-coding_Transcript|EEF1A1_uc003phl.3_Missense_Mutation_p.I28V|EEF1A1_uc003phm.1_Non-coding_Transcript|EEF1A1_uc021zbt.1_5'Flank|EEF1A1_uc021zbu.1_5'Flank	NM_001402	NP_001393	P68104	EF1A1_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA.	28						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						CATTTATAGATCAGATGGCCA	0.413													13	36					0	0	1	0	0	C	74229668	T	C	74229668	3	2	195	1	0	0	0	0	1	0	0	0	4923	1435	50	3	1334	3	EEF1A1	6	74229668	Missense_Mutation	SNP	T	TCGA-HT-7684-01A-11D-2253-08	42544269	74229668	96885399	10	8344											
CD36	948	broad.mit.edu	37	chr7	80286000	80286000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acattcaagttaagcaaagaGgtccttatacgtacaggtga	15	10	9	7	1	1	2	1	1	0	1	2	2	2	2	1	2	3	3	1	2	6	5			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr7:80286000G>A	uc003uhc.3	+	6	949	c.265G>A	c.(265-267)Ggt>Agt	p.G89S	CD36_uc011kgv.2_Missense_Mutation_p.G13S|CD36_uc003uhd.4_Missense_Mutation_p.G89S|CD36_uc003uhe.4_Missense_Mutation_p.G89S|CD36_uc003uhf.4_Missense_Mutation_p.G89S|CD36_uc003uhg.4_Missense_Mutation_p.G89S|CD36_uc003uhh.4_Missense_Mutation_p.G89S|CD36_uc022agu.1_Missense_Mutation_p.G89S|CD36_uc022agv.1_Missense_Mutation_p.G89S	NM_001127444	NP_001120916	P16671	CD36_HUMAN	Homo sapiens CD36 molecule (thrombospondin receptor) (CD36), transcript variant 5, mRNA.	89					cGMP-mediated signaling|cell adhesion|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TAAGCAAAGAGGTCCTTATAC	0.398													3	70					0	0	1	0	0	A	80286000	G	A	80286000	3	1	195	1	0	0	0	0	1	0	0	0	3007	1000	35	3	271	3	CD36	7	80286000	Missense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08		80286000	78852663	11	8345											
SSPO	23145	broad.mit.edu	37	chr7	149482723	149482723	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcgagaggccagtggcCtattcacagtctctgcccag	7	9	13	12	1	2	1	1	0	1	1	3	2	2	1	3	3	2	0	3	3	1	2			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr7:149482723C>G	uc010lpk.3	+	21	3139	c.3139C>G	c.(3139-3141)Cta>Gta	p.L1047V	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1047	VWFD 3.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCCAGTGGCCTATTCACAGT	0.627													4	7					0	0	1	0	0	G	149482723	C	G	149482723	3	3	195	1	0	0	0	0	1	0	0	0	15188	680	24	5	3221	5	SSPO	7	149482723	Missense_Mutation	SNP	C	TCGA-HT-7684-01A-11D-2253-08	69196723	149482723	9655940	12	8346											
KIF13B	23303	broad.mit.edu	37	chr8	29039519	29039519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgactttcaacgtctgacGgcttctgttcatgaaaaaca	11	13	7	10	2	5	3	2	3	3	0	5	3	5	3	0	1	2	2	0	1	3	3			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr8:29039519G>A	uc003xhh.4	-	6	561	c.502C>T	c.(502-504)Cgt>Tgt	p.R168C	KIF13B_uc003xhj.2_Missense_Mutation_p.R65C|KIF13B_uc010lvf.1_Missense_Mutation_p.R104C	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	168	Kinesin-motor.				T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AACGTCTGACGGCTTCTGTTC	0.373													3	39					0	0	1	0	0	A	29039519	G	A	29039519	3	1	195	1	0	0	0	0	1	0	0	0	8275	1116	39	2	5114	2	KIF13B	8	29039519	Missense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08		29039519	117324503	13	8347											
NOL8	55035	broad.mit.edu	37	chr9	95077012	95077012	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccattcgccttctttgcaTgttggcatggagtcacttca	6	14	10	11	1	3	0	2	0	1	0	4	1	3	1	2	3	1	3	2	3	0	5			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr9:95077012T>C	uc022bjx.1	-	6	2232	c.1895A>G	c.(1894-1896)cAt>cGt	p.H632R	NOL8_uc010mqw.3_Non-coding_Transcript|NOL8_uc022bjw.1_Missense_Mutation_p.H564R	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	Homo sapiens nucleolar protein 8 (NOL8), transcript variant 1, mRNA.	632					DNA replication|positive regulation of cell growth	nucleolus	RNA binding|nucleotide binding|protein binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CTTCTTTGCATGTTGGCATGG	0.453													5	10					0	0	1	0	0	C	95077012	T	C	95077012	3	2	195	1	0	0	0	0	1	0	0	0	10527	1464	51	3	1652	3	NOL8	9	95077012	Missense_Mutation	SNP	T	TCGA-HT-7684-01A-11D-2253-08		95077012	46136419	14	8348											
TBC1D2	55357	broad.mit.edu	37	chr9	100991314	100991314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgggcagttcggttccGtgtgattccttcagaaaaga	8	12	11	10	2	1	3	1	1	0	2	5	3	4	3	3	2	0	3	3	2	2	4			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr9:100991314G>A	uc011lvb.2	-	4	1078	c.898C>T	c.(898-900)Cgg>Tgg	p.R300W	TBC1D2_uc004ayq.3_Missense_Mutation_p.R300W|TBC1D2_uc004ayr.3_Missense_Mutation_p.R82W	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.	300	Interaction with RAC1.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GTTCGGTTCCGTGTGATTCCT	0.522													11	34					0	0	1	0	0	A	100991314	G	A	100991314	3	1	195	1	0	0	0	0	1	0	0	0	15605	1144	40	1	1891	1	TBC1D2	9	100991314	Missense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08	5914302	100991314	40222117	15	8349											
OR13D1	286365	broad.mit.edu	37	chr9	107456818	107456818	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catggagacaagaaattactCtgccatgactgaattctttc	13	12	7	9	0	2	4	0	2	2	2	3	5	2	4	1	1	2	0	1	1	4	3			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr9:107456818C>G	uc011lvs.2	+	0	116	c.116C>G	c.(115-117)tCt>tGt	p.S39C		NM_001004484	NP_001004484	Q8NGV5	O13D1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily D, member 1 (OR13D1), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						AGAAATTACTCTGCCATGACT	0.423													7	24					0	0	1	0	0	G	107456818	C	G	107456818	3	3	195	1	0	0	0	0	1	0	0	0	10940	913	32	5	118	5	OR13D1	9	107456818	Missense_Mutation	SNP	C	TCGA-HT-7684-01A-11D-2253-08	6465504	107456818	33756613	16	8350											
MUSK	4593	broad.mit.edu	37	chr9	113562782	113562782	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctttgcattgccaggcaGgtggcagctggcatggctta	7	10	14	10	0	0	0	0	0	0	0	0	0	0	0	1	5	4	7	1	5	1	3			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr9:113562782G>C	uc022blv.1	+	14	2258	c.2124G>C	c.(2122-2124)caG>caC	p.Q708H	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Missense_Mutation_p.Q619H|MUSK_uc022blu.1_Missense_Mutation_p.Q609H	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	708	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TTGCCAGGCAGGTGGCAGCTG	0.567													28	94					0	0	1	0	0	C	113562782	G	C	113562782	3	2	195	1	0	0	0	0	1	0	0	0	9989	991	35	5	2214	5	MUSK	9	113562782	Missense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08	6105964	113562782	27650649	17	8351											
PTGS1	5742	broad.mit.edu	37	chr9	125154668	125154668	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtactggaagccgagcacaTttggcggcgaggtgggcttt	8	9	16	8	3	0	0	0	0	0	0	0	3	0	1	1	5	3	3	1	5	2	3			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr9:125154668T>G	uc004bmg.1	+	10	1780	c.1645T>G	c.(1645-1647)Ttt>Gtt	p.F549V	PTGS1_uc011lys.1_Missense_Mutation_p.F487V|PTGS1_uc010mwb.1_Missense_Mutation_p.F403V|PTGS1_uc004bmf.1_Missense_Mutation_p.F512V|PTGS1_uc004bmh.1_Missense_Mutation_p.F440V|PTGS1_uc011lyt.1_Missense_Mutation_p.F440V	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	549					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	GCCGAGCACATTTGGCGGCGA	0.537													20	53					0	0	1	0	0	G	125154668	T	G	125154668	3	3	195	1	0	0	0	0	1	0	0	0	12755	1493	52	5	1687	5	PTGS1	9	125154668	Missense_Mutation	SNP	T	TCGA-HT-7684-01A-11D-2253-08	11591886	125154668	16058763	18	8352											
SERPING1	710	broad.mit.edu	37	chr11	57367766	57367766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccctgaagctctaccacGccttctcagcaatgaagaag	11	9	7	14	1	3	3	1	2	3	1	5	3	3	3	3	0	3	2	3	0	5	2	rs139035354	by1000genomes	TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr11:57367766G>A	uc001nkp.1	+	2	657	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	SERPING1_uc010rju.1_Missense_Mutation_p.A104T|SERPING1_uc010rjv.1_Missense_Mutation_p.A161T|SERPING1_uc001nkr.1_Missense_Mutation_p.A156T|SERPING1_uc001nks.1_Intron	NM_000062	NP_001027466	P05155	IC1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 (SERPING1), transcript variant 1, mRNA.	156					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	p.A156T(2)|p.A156A(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GCTCTACCACGCCTTCTCAGC	0.542													49	62					0	0	1	0	0	A	57367766	G	A	57367766	3	1	195	1	0	0	0	0	1	0	0	0	14116	1087	38	1	472	1	SERPING1	11	57367766	Missense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08		57367766	77638750	19	8353											
MS4A14	84689	broad.mit.edu	37	chr11	60183353	60183353	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgtcactccaagttttTccatcccattctgcactaaa	9	13	5	14	1	2	0	1	0	1	0	5	0	5	0	3	0	2	3	3	0	3	4			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr11:60183353T>C	uc001npj.3	+	4	1477	c.912T>C	c.(910-912)ttT>ttC	p.F304F	MS4A14_uc001npi.3_Silent_p.F192F|MS4A14_uc001npn.3_Silent_p.F42F|MS4A14_uc001npk.3_Silent_p.F287F|MS4A14_uc001npl.3_Silent_p.F42F|MS4A14_uc001npm.3_Silent_p.F42F	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	304						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TCCAAGTTTTTCCATCCCATT	0.423													23	26					0	0	1	0	0	C	60183353	T	C	60183353	2	2	195	1	0	0	0	0	0	0	0	1	9858	1780	62	3		3	MS4A14	11	60183353	Silent	SNP	T	TCGA-HT-7684-01A-11D-2253-08	2815587	60183353	74823163	20	8354											
CHORDC1	26973	broad.mit.edu	37	chr11	89947220	89947220	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttctactggcttaggggCttgaatgatgtgttcctgaa	7	15	12	7	0	1	3	0	3	1	0	2	3	2	3	1	3	2	4	1	3	4	5			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr11:89947220C>T	uc001pdg.2	-	3	705	c.295G>A	c.(295-297)Gcc>Acc	p.A99T	CHORDC1_uc009yvz.2_Missense_Mutation_p.A80T	NM_012124	NP_036256	Q9UHD1	CHRD1_HUMAN	Homo sapiens cysteine and histidine-rich domain (CHORD) containing 1 (CHORDC1), transcript variant 1, mRNA.	99	Interaction with HSP90AA1 and HSP90AB1 (By similarity).				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				GGCTTAGGGGCTTGAATGATG	0.393													5	104					0	0	1	0	0	T	89947220	C	T	89947220	3	4	195	1	0	0	0	0	1	0	0	0	3365	797	28	3	735	3	CHORDC1	11	89947220	Missense_Mutation	SNP	C	TCGA-HT-7684-01A-11D-2253-08	29763867	89947220	45059296	21	8355											
TMTC1	83857	broad.mit.edu	37	chr12	29659825	29659825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtaatcgtttttctaggCgatccaatttggcaagattt	9	17	8	7	2	1	1	0	0	1	1	3	2	2	1	1	2	0	3	1	2	4	7	rs35279918		TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr12:29659825C>T	uc021qwi.1	-	17	2662	c.2603G>A	c.(2602-2604)cGc>cAc	p.R868H	TMTC1_uc001riz.3_Missense_Mutation_p.R517H|TMTC1_uc001rja.3_Missense_Mutation_p.R604H|TMTC1_uc001rjb.3_Missense_Mutation_p.R760H|TMTC1_uc001riy.3_Missense_Mutation_p.R213H	NM_001193451	NP_001180380	Q8IUR5	TMTC1_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 1 (TMTC1), transcript variant 1, mRNA.	868						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TTTTTCTAGGCGATCCAATTT	0.453													25	59					0	0	1	0	0	T	29659825	C	T	29659825	3	4	195	1	0	0	0	0	1	0	0	0	16257	768	27	1	49	1	TMTC1	12	29659825	Missense_Mutation	SNP	C	TCGA-HT-7684-01A-11D-2253-08		29659825	104192070	22	8356											
EP400	57634	broad.mit.edu	37	chr12	132547141	132547141	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcagcagcagcaacagacgac	16	0	11	14	1	0	1	0	0	0	1	0	2	0	1	0	0	11	9	0	0	2	0			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr12:132547141G>A	uc001ujn.3	+	46	8381	c.8229G>A	c.(8227-8229)caG>caA	p.Q2743Q	EP400_uc021rgq.1_Silent_p.Q2742Q|EP400_uc001ujm.3_Silent_p.Q2662Q|EP400_uc001ujp.3_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2779	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2742Q(4)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacagcagcagcagc	0.597													3	27					0	0	1	0	0	A	132547141	G	A	132547141	2	1	195	1	0	0	0	0	0	0	0	1	5149	962	34	3		3	EP400	12	132547141	Silent	SNP	G	TCGA-HT-7684-01A-11D-2253-08	102887316	132547141	1304754	23	8357											
DCLK1	9201	broad.mit.edu	37	chr13	36686247	36686247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccagtgaagacactgccCgagaagccgaggtggtcttg	9	7	15	10	2	1	3	0	1	1	2	1	5	1	3	3	3	2	0	3	3	2	1			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr13:36686247C>T	uc001uvf.3	-	2	765	c.482G>A	c.(481-483)cGg>cAg	p.R161Q		NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	161					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		AGACACTGCCCGAGAAGCCGA	0.522													13	36					0	0	1	0	0	T	36686247	C	T	36686247	3	4	195	1	0	0	0	0	1	0	0	0	4291	652	23	2	1771	2	DCLK1	13	36686247	Missense_Mutation	SNP	C	TCGA-HT-7684-01A-11D-2253-08		36686247	78483631	24	8358											
DIS3	22894	broad.mit.edu	37	chr13	73346337	73346337	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctcgacaatgtagagcaTcgtctatatcagtacatcct	11	13	7	10	2	3	1	1	0	2	1	6	2	4	1	1	0	2	4	1	0	5	5			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr13:73346337T>C	uc001vix.4	-	9	1837	c.1463A>G	c.(1462-1464)gAt>gGt	p.D488G	DIS3_uc001viy.4_Missense_Mutation_p.D458G|DIS3_uc001viz.3_Non-coding_Transcript	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae) (DIS3), transcript variant 1, mRNA.	488					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|RNA binding|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding	p.D488N(4)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		ATGTAGAGCATCGTCTATATC	0.363										Multiple Myeloma(4;0.011)			15	23					0	0	1	0	0	C	73346337	T	C	73346337	3	2	195	1	0	0	0	0	1	0	0	0	4535	1435	50	3	1461	3	DIS3	13	73346337	Missense_Mutation	SNP	T	TCGA-HT-7684-01A-11D-2253-08	36660090	73346337	41823541	25	8359											
MYCBP2	23077	broad.mit.edu	37	chr13	77807397	77807397	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaccagcaaatacaaggggGcctgaggagaaacattttgt	14	7	13	7	0	0	2	0	1	0	1	0	4	0	3	2	4	3	1	2	4	4	3			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr13:77807397G>C	uc021rks.1	-	18	2897	c.2630_splice	c.e18-1	p.G877_splice	MYCBP2_uc010aev.3_Splice_Site_p.G243_splice	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	839					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATACAAGGGGGCCTGAGGAGA	0.363													3	31					0	0	1	0	0	C	77807397	G	C	77807397	5	2	195	1	0	0	0	0	0	0	1	0	10018	1217	42	5	11669	5	MYCBP2	13	77807397	Splice_Site	SNP	G	TCGA-HT-7684-01A-11D-2253-08	4461060	77807397	37362481	26	8360											
FOXG1	2290	broad.mit.edu	37	chr14	29237034	29237034	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaagtacgagaagccgccGttcagctacaacgcgctcat	11	6	11	13	5	2	1	2	0	0	1	2	2	2	1	2	1	5	5	2	1	5	3			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr14:29237034G>A	uc001wqe.3	+	0	748	c.549G>A	c.(547-549)ccG>ccA	p.P183P		NM_005249	NP_005240	P55316	FOXG1_HUMAN	Homo sapiens forkhead box G1 (FOXG1), mRNA.	183				P -> PP (in Ref. 1; CAA52241).	axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		AGAAGCCGCCGTTCAGCTACA	0.637													8	16					0	0	1	0	0	A	29237034	G	A	29237034	2	1	195	1	0	0	0	0	0	0	0	1	6007	1132	40	1		1	FOXG1	14	29237034	Silent	SNP	G	TCGA-HT-7684-01A-11D-2253-08		29237034	78112506	27	8361											
KLHL28	54813	broad.mit.edu	37	chr14	45415078	45415078	+	Frame_Shift_Del	DEL	A	A	-																															aagccctgcagaagttgttcAgaatgcaagtgggttaagtt																										TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr14:45415078delA	uc001wvq.3	-	1	300	c.54delT	c.(52-54)tctfs	p.S18fs	KLHL28_uc001wvr.3_Frame_Shift_Del_p.S18fs|KLHL28_uc001wvt.4_Frame_Shift_Del_p.S18fs	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	Homo sapiens kelch-like 28 (Drosophila) (KLHL28), mRNA.	18										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GAAGTTGTTCAGAATGCAAGT	0.403													21	60	---	---	---	---						-	45415078	A	-	45415078	7	5	195	1	0	1	0	1	0	0	0	0	8382	175	7	0	1677	0	KLHL28	14	45415078	Frame_Shift_Del	DEL	A	TCGA-HT-7684-01A-11D-2253-08	16178044	45415078	61934462	28	8362											
SYNE2	23224	broad.mit.edu	37	chr14	64676802	64676802	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggcaaccagcgctgggacaAccttcagaggcgggtcacag	10	4	15	12	2	2	1	2	0	0	1	2	2	2	2	2	4	3	2	2	4	2	1			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr14:64676802A>G	uc001xgl.3	+	102	18913	c.18683A>G	c.(18682-18684)aAc>aGc	p.N6228S	SYNE2_uc001xgm.3_Missense_Mutation_p.N6228S|SYNE2_uc010apy.3_Missense_Mutation_p.N2613S|SYNE2_uc001xgn.3_Missense_Mutation_p.N1190S|SYNE2_uc021rui.1_Missense_Mutation_p.N1232S|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Missense_Mutation_p.N198S|SYNE2_uc001xgq.3_Missense_Mutation_p.N593S|SYNE2_uc001xgr.3_Missense_Mutation_p.N11S	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	6228					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CGCTGGGACAACCTTCAGAGG	0.622													7	15					0	0	1	0	0	G	64676802	A	G	64676802	3	3	195	1	0	0	0	0	1	0	0	0	15443	43	2	3	19089	3	SYNE2	14	64676802	Missense_Mutation	SNP	A	TCGA-HT-7684-01A-11D-2253-08	19261724	64676802	42672738	29	8363											
ISM2	145501	broad.mit.edu	37	chr14	77942239	77942239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaacgcaggcagaagcgcGccgtgggctggtagatgtcc	8	6	17	10	4	0	2	0	0	0	2	1	3	1	3	2	4	2	4	2	4	3	1			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr14:77942239G>A	uc001xtz.3	-	6	1489	c.1415C>T	c.(1414-1416)gCg>gTg	p.A472V	ISM2_uc001xua.3_3'UTR|ISM2_uc001xty.3_Missense_Mutation_p.A384V	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	Homo sapiens isthmin 2 homolog (zebrafish) (ISM2), transcript variant 1, mRNA.	472	AMOP.					extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GCAGAAGCGCGCCGTGGGCTG	0.677													7	22					0	0	1	0	0	A	77942239	G	A	77942239	3	1	195	1	0	0	0	0	1	0	0	0	7861	1087	38	1	304	1	ISM2	14	77942239	Missense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08	13265437	77942239	29407301	30	8364											
AKAP13	11214	broad.mit.edu	37	chr15	86287025	86287025	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaaagaaggagaaaaaaaaGaagaacaaaaccagccgctc	24	1	9	7	1	0	4	0	0	0	4	1	6	0	4	2	1	3	1	2	1	11	0			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr15:86287025G>A	uc002blv.1	+	35	8531	c.8361G>A	c.(8359-8361)aaG>aaA	p.K2787K	AKAP13_uc002blu.1_Silent_p.K2791K|AKAP13_uc002blw.1_Silent_p.K1252K|AKAP13_uc002blx.1_Silent_p.K1032K	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	2787	Interaction with ESR1.|Poly-Lys.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGAAAAAAAAGAAGAACAAAA	0.532													5	27					0	0	1	0	0	A	86287025	G	A	86287025	2	1	195	1	0	0	0	0	0	0	0	1	449	933	33	3		3	AKAP13	15	86287025	Silent	SNP	G	TCGA-HT-7684-01A-11D-2253-08		86287025	16244367	31	8365											
IQGAP1	8826	broad.mit.edu	37	chr15	91034589	91034589	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaacatcagagagccatgCagagacgtgctatccgtgat	13	7	11	10	2	1	4	1	1	0	3	2	6	2	4	2	0	4	2	2	0	2	1			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr15:91034589C>T	uc002bpl.1	+	33	4374	c.4273C>T	c.(4273-4275)Cag>Tag	p.Q1425*	IQGAP1_uc010uqg.1_Nonsense_Mutation_p.Q46*	NM_003870	NP_003861	P46940	IQGA1_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA.	1425	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GAGAGCCATGCAGAGACGTGC	0.398													4	23					0	0	1	0	0	T	91034589	C	T	91034589	4	4	195	1	0	0	0	0	0	1	0	0	7814	711	25	3	4407	3	IQGAP1	15	91034589	Nonsense_Mutation	SNP	C	TCGA-HT-7684-01A-11D-2253-08	4747564	91034589	11496803	32	8366											
EFTUD2	9343	broad.mit.edu	37	chr17	42931994	42931994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccaaaagcccagatggaaCgggcagccagcagatcccaa	14	2	12	13	1	0	2	0	0	0	2	1	3	1	3	4	3	4	2	4	3	4	0			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr17:42931994C>T	uc002ihn.2	-	21	2450	c.2189G>A	c.(2188-2190)cGt>cAt	p.R730H	EFTUD2_uc010wje.1_Missense_Mutation_p.R695H|EFTUD2_uc010wjf.1_Missense_Mutation_p.R720H	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	730						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding	p.R730C(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CCAGATGGAACGGGCAGCCAG	0.567													17	29					0	0	1	0	0	T	42931994	C	T	42931994	3	4	195	1	0	0	0	0	1	0	0	0	4961	536	19	1	757	1	EFTUD2	17	42931994	Missense_Mutation	SNP	C	TCGA-HT-7684-01A-11D-2253-08		42931994	38263216	33	8367											
USP32	84669	broad.mit.edu	37	chr17	58378974	58378975	+	Frame_Shift_Del	DEL	TC	TC	-																															acttacattttgctttctctTcatctttgcctcttgtaagg																										TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr17:58378974_58378975delTC	uc002iyo.1	-	2	563_564	c.277_278delGA	c.(277-279)gaafs	p.E93fs	USP32_uc010wov.1_Frame_Shift_Del_p.E93fs	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	93	EF-hand 1.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TGCTTTCTCTTCATCTTTGCCT	0.332													8	22	---	---	---	---						-	58378975	TC	-	58378974	7	5	195	1	0	1	0	1	0	0	0	0	17060	1783	62	0	4664	0	USP32	17	58378974	Frame_Shift_Del	DEL	TC	TCGA-HT-7684-01A-11D-2253-08	15446980	58378974	22816236	34	8368											
TTYH2	94015	broad.mit.edu	37	chr17	72249349	72249349	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcagtggcctgggaagtcaGaccagcctgcagcccccggc	8	4	14	15	1	1	1	1	0	0	1	1	2	1	2	5	3	4	2	5	3	1	0			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr17:72249349G>A	uc002jkc.3	+	11	1420	c.1389G>A	c.(1387-1389)caG>caA	p.Q463Q	TTYH2_uc010wqw.2_Silent_p.Q442Q|TTYH2_uc002jkd.3_Silent_p.Q142Q	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	Homo sapiens tweety homolog 2 (Drosophila) (TTYH2), transcript variant 1, mRNA.	463						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TGGGAAGTCAGACCAGCCTGC	0.647													15	54					0	0	1	0	0	A	72249349	G	A	72249349	2	1	195	1	0	0	0	0	0	0	0	1	16737	933	33	3		3	TTYH2	17	72249349	Silent	SNP	G	TCGA-HT-7684-01A-11D-2253-08	13870375	72249349	8945861	35	8369											
EVPL	2125	broad.mit.edu	37	chr17	74003681	74003681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacggctgagcaggtccaCgatgccccctgtggccgcct	5	7	12	17	3	1	1	1	1	0	0	2	2	2	1	5	3	2	2	5	3	0	0			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr17:74003681C>T	uc010wss.1	-	21	5899	c.5671G>A	c.(5671-5673)Gtg>Atg	p.V1891M	EVPL_uc002jqi.2_Missense_Mutation_p.V1869M|EVPL_uc010wst.1_Missense_Mutation_p.V1339M	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1869	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGCAGGTCCACGATGCCCCCT	0.617													4	45					0	0	1	0	0	T	74003681	C	T	74003681	3	4	195	1	0	0	0	0	1	0	0	0	5292	536	19	1	500	1	EVPL	17	74003681	Missense_Mutation	SNP	C	TCGA-HT-7684-01A-11D-2253-08	1754332	74003681	7191529	36	8370											
C3	718	broad.mit.edu	37	chr19	6712560	6712560	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtttgaagtacttgggtgTcttggtgaagtggatctggt	6	16	16	3	0	2	2	0	2	2	0	2	3	2	3	0	5	1	2	0	5	3	4			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr19:6712560T>C	uc002mfm.3	-	9	1140	c.1078A>G	c.(1078-1080)Aca>Gca	p.T360A		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	360					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TACTTGGGTGTCTTGGTGAAG	0.622													13	171					0	0	1	0	0	C	6712560	T	C	6712560	3	2	195	1	0	0	0	0	1	0	0	0	2204	1667	58	3	4041	3	C3	19	6712560	Missense_Mutation	SNP	T	TCGA-HT-7684-01A-11D-2253-08		6712560	52416423	37	8371											
ZNF573	126231	broad.mit.edu	37	chr19	38229202	38229203	+	Splice_Site	DEL	TC	TC	-																															cctgttttttttttttttttTcttaatttaccattgaatag																								rs74268405		TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr19:38229202_38229203delTC	uc002ohe.3	-	5	2257	c.2188_splice	c.e5+1		ZNF573_uc010efs.2_Splice_Site|ZNF573_uc002ohd.3_Splice_Site|ZNF573_uc002ohf.3_Splice_Site|ZNF573_uc002ohg.3_Splice_Site|ZNF573_uc021utv.1_Splice_Site	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TTTTTTTTTTTCTTAATTTACC	0.332													2	4	---	---	---	---						-	38229203	TC	-	38229202	8	5	195	1	0	1	0	1	0	0	1	0	18002	1798	62	0		0	ZNF573	19	38229202	Splice_Site	DEL	TC	TCGA-HT-7684-01A-11D-2253-08	31516642	38229202	20899781	38	8372											
LYPD4	147719	broad.mit.edu	37	chr19	42341280	42341280	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggatcttgcctggaggaTgctgcaccaacaatctgaga	11	8	12	10	0	2	1	0	1	2	1	2	5	2	4	2	3	4	3	2	3	2	1			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr19:42341280T>G	uc002orp.1	-	4	1662	c.678A>C	c.(676-678)gcA>gcC	p.A226A	LYPD4_uc002orq.1_Silent_p.A191A	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN	Homo sapiens LY6/PLAUR domain containing 4 (LYPD4), mRNA.	226						anchored to membrane|plasma membrane		p.A225A(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						GCCTGGAGGATGCTGCACCAA	0.493													3	60					0	0	1	0	0	G	42341280	T	G	42341280	2	3	195	1	0	0	0	0	0	0	0	1	9112	1451	51	5		5	LYPD4	19	42341280	Silent	SNP	T	TCGA-HT-7684-01A-11D-2253-08	4112078	42341280	16787703	39	8373											
DLGAP4	22839	broad.mit.edu	37	chr20	35060961	35060961	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagccacctgccccagccttGgggtgggcactgacaccaac	8	5	11	17	0	0	1	0	1	0	0	0	1	0	1	6	3	4	1	6	3	1	1			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr20:35060961G>T	uc002xff.3	+	2	1276	c.841G>T	c.(841-843)Ggg>Tgg	p.G281W	DLGAP4_uc010zvp.2_Missense_Mutation_p.G281W	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	281					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCCCAGCCTTGGGGTGGGCAC	0.632													11	7					0.00010058	0.000102514	1	1	0	T	35060961	G	T	35060961	3	4	195	1	0	0	0	0	1	0	0	0	4562	1348	47	5	843	5	DLGAP4	20	35060961	Missense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08		35060961	27964559	40	8374											
HCCS	3052	broad.mit.edu	37	chrX	11135492	11135492	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcagagaaaaagtgggttTacccttctgagcagatgttc	12	12	10	7	0	2	3	1	1	1	2	3	4	2	3	1	1	2	3	1	1	3	5			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chrX:11135492T>C	uc004cul.2	+	3	538	c.358T>C	c.(358-360)Tac>Cac	p.Y120H	HCCS_uc004cuk.3_Missense_Mutation_p.Y120H|HCCS_uc004cuj.3_Missense_Mutation_p.Y120H	NM_001171991	NP_005324	P53701	CCHL_HUMAN	Homo sapiens holocytochrome c synthase (HCCS), transcript variant 3, mRNA.	120					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)	7						AAAGTGGGTTTACCCTTCTGA	0.383													37	21					0	0	1	0	0	C	11135492	T	C	11135492	3	2	195	1	0	0	0	0	1	0	0	0	6990	1754	61	3	368	3	HCCS	23	11135492	Missense_Mutation	SNP	T	TCGA-HT-7684-01A-11D-2253-08		11135492	144135068	41	8375											
PRDM16	63976	broad.mit.edu	37	chr1	3342279	3342279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagaccaacctggaccGgcacctcaagaagcacgagc	13	2	11	15	2	1	2	1	0	0	2	1	4	1	3	4	2	4	4	4	2	3	0			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr1:3342279G>A	uc001akf.3	+	12	3156	c.3074G>A	c.(3073-3075)cGg>cAg	p.R1025Q	PRDM16_uc001ake.3_Missense_Mutation_p.R1025Q|PRDM16_uc009vlh.3_Missense_Mutation_p.R725Q|PRDM16_uc001akc.3_Missense_Mutation_p.R1024Q	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	1025	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AACCTGGACCGGCACCTCAAG	0.662			T	EVI1	"MDS, AML"								13	121					0	0	1	0	0	A	3342279	G	A	3342279	3	1	196	1	0	0	0	0	1	0	0	0	12457	1116	39	2	3124	2	PRDM16	1	3342279	Missense_Mutation	SNP	G	TCGA-HT-7686-01A-11D-2253-08		3342279	245908342	1	8376											
TUBA3D	113457	broad.mit.edu	37	chr2	132238149	132238149	+	Frame_Shift_Del	DEL	T	T	-																															tggccgagatcaccaatgccTgcttcgagccagccaatcaa																										TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr2:132238149delT	uc002tsu.4	+	3	1076	c.883delT	c.(883-885)tgcfs	p.C295fs		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA.	295					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CACCAATGCCTGCTTCGAGCC	0.597													10	285	---	---	---	---						-	132238149	T	-	132238149	7	5	196	1	0	1	0	1	0	0	0	0	16744	1580	55	0	897	0	TUBA3D	2	132238149	Frame_Shift_Del	DEL	T	TCGA-HT-7686-01A-11D-2253-08		132238149	110961224	2	8377											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								29	48					0	0	1	0	0	T	209113112	C	T	209113112	3	4	196	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7686-01A-11D-2253-08	76874963	209113112	34086261	3	8378											
PLCH1	23007	broad.mit.edu	37	chr3	155200712	155200712	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtgggcagtagatacaaTggtgtccccttggctggtat	8	12	13	8	0	0	1	0	0	0	1	1	1	1	1	2	4	1	4	2	4	4	4			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr3:155200712T>C	uc021xge.1	-	22	3404	c.3127A>G	c.(3127-3129)Att>Gtt	p.I1043V	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.I1005V	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1043					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTAGATACAATGGTGTCCCCT	0.458													31	57					0	0	1	0	0	C	155200712	T	C	155200712	3	2	196	1	0	0	0	0	1	0	0	0	12037	1464	51	3	1958	3	PLCH1	3	155200712	Missense_Mutation	SNP	T	TCGA-HT-7686-01A-11D-2253-08		155200712	42821718	4	8379											
ANXA10	11199	broad.mit.edu	37	chr4	169105805	169105805	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacgatacaaagagcgataTggaaaatccctatttcatga	18	9	7	7	2	1	2	1	1	0	1	2	5	2	3	1	1	3	0	1	1	7	4			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr4:169105805T>C	uc003irm.3	+	10	1043	c.879T>C	c.(877-879)taT>taC	p.Y293Y	ANXA10_uc003irn.3_Silent_p.Y165Y	NM_007193	NP_009124	Q9UJ72	ANX10_HUMAN	Homo sapiens annexin A10 (ANXA10), mRNA.	293							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		AAGAGCGATATGGAAAATCCC	0.353													52	78					0	0	1	0	0	C	169105805	T	C	169105805	2	2	196	1	0	0	0	0	0	0	0	1	715	1471	51	3		3	ANXA10	4	169105805	Silent	SNP	T	TCGA-HT-7686-01A-11D-2253-08		169105805	22048471	5	8380											
PRDM9	56979	broad.mit.edu	37	chr5	23526872	23526872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtctgcagggagtgtgggCggggctttagctggaagtca	7	9	18	7	2	2	0	1	0	1	0	2	2	2	2	0	5	2	3	0	5	2	2			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr5:23526872C>T	uc003jgo.3	+	10	1857	c.1675C>T	c.(1675-1677)Cgg>Tgg	p.R559W		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	559					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.R559R(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGAGTGTGGGCGGGGCTTTAG	0.527										HNSCC(3;0.000094)			28	72					0	0	1	0	0	T	23526872	C	T	23526872	3	4	196	1	0	0	0	0	1	0	0	0	12463	759	27	1	1713	1	PRDM9	5	23526872	Missense_Mutation	SNP	C	TCGA-HT-7686-01A-11D-2253-08		23526872	157388388	6	8381											
HCN1	348980	broad.mit.edu	37	chr5	45262356	45262356	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagagtggcctgacttcccgGgtcaggttggtgttgtgaag	6	11	17	7	1	1	3	1	2	0	1	2	4	2	3	2	4	0	2	2	4	1	3			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr5:45262356G>T	uc003jok.3	-	7	2365	c.2340C>A	c.(2338-2340)acC>acA	p.T780T		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	780						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGACTTCCCGGGTCAGGTTGG	0.632													19	32					4.35082e-09	4.51816e-09	1	1	0	T	45262356	G	T	45262356	2	4	196	1	0	0	0	0	0	0	0	1	6996	1219	43	5		5	HCN1	5	45262356	Silent	SNP	G	TCGA-HT-7686-01A-11D-2253-08	21735484	45262356	135652904	7	8382											
DHX29	54505	broad.mit.edu	37	chr5	54577281	54577281	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaacccctgttgtacaataGagtaacctggtagattcaca	15	10	7	9	0	1	2	1	0	0	2	1	2	1	2	3	1	3	4	3	1	7	6			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr5:54577281G>C	uc003jpx.3	-	11	2148	c.2028C>G	c.(2026-2028)ctC>ctG	p.L676L	DHX29_uc010ivw.3_Non-coding_Transcript	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 29 (DHX29), mRNA.	676	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TTGTACAATAGAGTAACCTGG	0.393													35	54					0	0	1	0	0	C	54577281	G	C	54577281	2	2	196	1	0	0	0	0	0	0	0	1	4503	929	33	5		5	DHX29	5	54577281	Silent	SNP	G	TCGA-HT-7686-01A-11D-2253-08	9314925	54577281	126337979	8	8383											
UNC5CL	222643	broad.mit.edu	37	chr6	40996311	40996311	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actccaggatggccgctgcgGggctgcgctggcaggacagg	6	5	18	12	3	0	0	0	0	0	0	1	2	1	2	2	7	2	4	2	7	0	0			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr6:40996311G>T	uc003opi.3	-	8	1457	c.1358C>A	c.(1357-1359)cCc>cAc	p.P453H		NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	Homo sapiens unc-5 homolog C (C. elegans)-like (UNC5CL), mRNA.	453	Death.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGCCGCTGCGGGGCTGCGCTG	0.672													27	58					3.67414e-24	4.13341e-24	1	1	0	T	40996311	G	T	40996311	3	4	196	1	0	0	0	0	1	0	0	0	16991	1232	43	5	202	5	UNC5CL	6	40996311	Missense_Mutation	SNP	G	TCGA-HT-7686-01A-11D-2253-08		40996311	130118756	9	8384											
ADAM28	10863	broad.mit.edu	37	chr8	24201057	24201057	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtcaatgtgaggaaggAtggatccctcccgactgcga	10	8	13	10	2	1	1	1	1	0	0	3	6	3	4	2	3	1	0	2	3	2	0			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr8:24201057A>G	uc003xdy.3	+	17	2033	c.1950A>G	c.(1948-1950)ggA>ggG	p.G650G	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.G337G	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	650	EGF-like.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GTGAGGAAGGATGGATCCCTC	0.498													23	47					0	0	1	0	0	G	24201057	A	G	24201057	2	3	196	1	0	0	0	0	0	0	0	1	246	320	12	3		3	ADAM28	8	24201057	Silent	SNP	A	TCGA-HT-7686-01A-11D-2253-08		24201057	122162965	10	8385											
PKHD1L1	93035	broad.mit.edu	37	chr8	110408325	110408325	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgacaataagtgggcgttTctttgatcagacagatttcc	10	13	10	8	1	2	4	1	2	1	2	3	4	3	4	1	1	0	2	1	1	2	4			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr8:110408325T>C	uc003yne.3	+	10	985	c.881T>C	c.(880-882)tTc>tCc	p.F294S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	294	IPT/TIG 3.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGTGGGCGTTTCTTTGATCAG	0.403										HNSCC(38;0.096)			9	13					0	0	1	0	0	C	110408325	T	C	110408325	3	2	196	1	0	0	0	0	1	0	0	0	11972	1783	62	3	923	3	PKHD1L1	8	110408325	Missense_Mutation	SNP	T	TCGA-HT-7686-01A-11D-2253-08	86207268	110408325	35955697	11	8386											
EPPK1	83481	broad.mit.edu	37	chr8	144941387	144941387	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtcgatgacaccccccgtgGccacctgcacctccagcagc	7	5	10	19	2	0	1	0	1	0	0	2	2	1	1	7	2	3	2	7	2	0	0			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr8:144941387G>T	uc003zaa.1	-	0	6048	c.6035C>A	c.(6034-6036)gCc>gAc	p.A2012D		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2012						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCCCCCGTGGCCACCTGCAC	0.627													13	22					3.27435e-08	3.27435e-08	1	1	0	T	144941387	G	T	144941387	3	4	196	1	0	0	0	0	1	0	0	0	5190	1203	42	5	1231	5	EPPK1	8	144941387	Missense_Mutation	SNP	G	TCGA-HT-7686-01A-11D-2253-08	34533062	144941387	1422635	12	8387											
UBAP1	51271	broad.mit.edu	37	chr9	34250662	34250662	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcttttcttagattctcGactatctctttgcacatgga	7	19	6	9	1	4	1	0	0	4	1	6	3	4	2	0	1	1	2	0	1	2	7			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr9:34250662G>T	uc022bfy.1	+	6	1671	c.1273G>T	c.(1273-1275)Gac>Tac	p.D425Y	UBAP1_uc010mka.2_Missense_Mutation_p.D461Y|UBAP1_uc003zty.3_Missense_Mutation_p.D425Y|UBAP1_uc022bfz.1_Missense_Mutation_p.D425Y|UBAP1_uc003ztx.3_Missense_Mutation_p.D425Y|UBAP1_uc011loj.2_Missense_Mutation_p.D489Y|UBAP1_uc011loi.2_Missense_Mutation_p.D461Y|KIF24_uc010mkb.3_Intron|UBAP1_uc003ztz.3_Missense_Mutation_p.D425Y	NM_001171203	NP_057609	Q9NZ09	UBAP1_HUMAN	Homo sapiens ubiquitin associated protein 1 (UBAP1), transcript variant 2, mRNA.	425	UBA 1.					cytoplasm				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			TTAGATTCTCGACTATCTCTT	0.468													19	31					4.35082e-09	4.51816e-09	1	1	0	T	34250662	G	T	34250662	3	4	196	1	0	0	0	0	1	0	0	0	16833	1058	37	5	1528	5	UBAP1	9	34250662	Missense_Mutation	SNP	G	TCGA-HT-7686-01A-11D-2253-08		34250662	106962769	13	8388											
AK7	122481	broad.mit.edu	37	chr14	96944967	96944967	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagactgtcttcaactattTtgatgaacttgaaattcacc	12	15	6	8	0	3	4	2	4	1	1	3	5	3	4	1	0	2	0	1	0	4	6			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr14:96944967T>C	uc001yfn.2	+	14	1765	c.1721T>C	c.(1720-1722)tTt>tCt	p.F574S		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	574					cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TTCAACTATTTTGATGAACTT	0.478													36	48					0	0	1	0	0	C	96944967	T	C	96944967	3	2	196	1	0	0	0	0	1	0	0	0	444	1841	64	3	1779	3	AK7	14	96944967	Missense_Mutation	SNP	T	TCGA-HT-7686-01A-11D-2253-08		96944967	10404573	14	8389											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr17:7577120C>T	uc002gim.2	-	7	1012	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			13	4					0	0	1	0	0	T	7577120	C	T	7577120	3	4	196	1	0	0	0	0	1	0	0	0	16378	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-HT-7686-01A-11D-2253-08		7577120	73618090	15	8390											
MYH2	4620	broad.mit.edu	37	chr17	10429940	10429940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcctccagctcctctgtgCgctggatggcgtccgtctcg	2	11	11	17	4	2	0	0	0	2	0	7	1	6	1	5	2	2	2	5	2	0	0			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr17:10429940C>T	uc010coi.3	-	29	4291	c.4163G>A	c.(4162-4164)cGc>cAc	p.R1388H	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R1388H|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1388					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1388H(4)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCCTCTGTGCGCTGGATGGC	0.512													52	145					0	0	1	0	0	T	10429940	C	T	10429940	3	4	196	1	0	0	0	0	1	0	0	0	10035	768	27	1	1706	1	MYH2	17	10429940	Missense_Mutation	SNP	C	TCGA-HT-7686-01A-11D-2253-08	2852820	10429940	70765270	16	8391											
TUBG1	7283	broad.mit.edu	37	chr17	40767042	40767042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggccagactacatctcctggGgcacccaggagcagtgagtc	9	6	13	13	0	1	2	0	1	1	1	3	3	1	3	3	4	2	2	3	4	1	1			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr17:40767042G>A	uc002ian.3	+	10	1737	c.1339G>A	c.(1339-1341)Ggc>Agc	p.G447S		NM_001070	NP_001061	P23258	TBG1_HUMAN	Homo sapiens tubulin, gamma 1 (TUBG1), mRNA.	447					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		CATCTCCTGGGGCACCCAGGA	0.582													4	36					0	0	1	0	0	A	40767042	G	A	40767042	3	1	196	1	0	0	0	0	1	0	0	0	16761	1232	43	3	1381	3	TUBG1	17	40767042	Missense_Mutation	SNP	G	TCGA-HT-7686-01A-11D-2253-08	30337102	40767042	40428168	17	8392											
CCNB3	85417	broad.mit.edu	37	chrX	50055581	50055581	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggacagcagtgatccaagTttcaacccaatgtatgccaa	14	8	9	10	0	1	1	1	1	0	0	2	3	2	2	3	1	3	3	3	1	5	2			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chrX:50055581T>A	uc004dox.4	+	6	3670	c.3372T>A	c.(3370-3372)agT>agA	p.S1124R	CCNB3_uc004doy.3_Missense_Mutation_p.S1124R|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Missense_Mutation_p.S16R	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	1124					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GTGATCCAAGTTTCAACCCAA	0.383													19	117					0	0	1	0	0	A	50055581	T	A	50055581	3	1	196	1	0	0	0	0	1	0	0	0	2914	1722	60	5	3390	5	CCNB3	23	50055581	Missense_Mutation	SNP	T	TCGA-HT-7686-01A-11D-2253-08		50055581	105214979	18	8393											
ATRX	546	broad.mit.edu	37	chrX	76920224	76920224	+	Frame_Shift_Del	DEL	A	A	-																															agatccatcctcatcagaggAaagattggctttaatttctt																										TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chrX:76920224delA	uc004ecp.4	-	10	4085	c.3853delT	c.(3853-3855)tccfs	p.S1285fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.S1247fs|ATRX_uc004eco.4_Frame_Shift_Del_p.S1070fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.S1217fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1285					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCATCAGAGGAAAGATTGGCT	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						13	50	---	---	---	---						-	76920224	A	-	76920224	7	5	196	1	0	1	0	1	0	0	0	0	1208	246	9	0	3725	0	ATRX	23	76920224	Frame_Shift_Del	DEL	A	TCGA-HT-7686-01A-11D-2253-08	26864643	76920224	78350336	19	8394											
HIVEP3	59269	broad.mit.edu	37	chr1	42050151	42050151	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgctcaggtttgccaggCgacatgaatgctggtgtcag	9	10	14	8	1	2	2	2	1	0	1	2	3	2	2	1	3	3	3	1	3	1	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr1:42050151C>T	uc001cgz.4	-	3	1531	c.318G>A	c.(316-318)tcG>tcA	p.S106S	HIVEP3_uc001cha.4_Silent_p.S106S|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	106					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GTTTGCCAGGCGACATGAATG	0.617													98	42					0	0	1	0	0	T	42050151	C	T	42050151	2	4	197	1	0	0	0	0	0	0	0	1	7188	755	27	1		1	HIVEP3	1	42050151	Silent	SNP	C	TCGA-HT-7687-01A-11D-2253-08		42050151	207200470	1	8395											
TNN	63923	broad.mit.edu	37	chr1	175116175	175116175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcctgggcagaaagaagCggacgctgagaggaaggctg	11	5	17	8	2	0	3	0	1	0	3	1	6	1	5	1	4	1	3	1	4	3	0			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr1:175116175C>T	uc001gkl.1	+	18	3981	c.3868C>T	c.(3868-3870)Cgg>Tgg	p.R1290W		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	1290					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAGAAAGAAGCGGACGCTGAG	0.592											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	24					0	0	1	0	0	T	175116175	C	T	175116175	3	4	197	1	0	0	0	0	1	0	0	0	16320	759	27	1	3938	1	TNN	1	175116175	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	133066024	175116175	74134446	2	8396											
CACNA1S	779	broad.mit.edu	37	chr1	201042735	201042735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctccagcttcttggccatcGttgacttctcctcttctgac	4	15	7	15	1	4	2	0	2	4	0	7	2	5	2	3	1	1	3	3	1	0	5	rs147112322		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr1:201042735G>A	uc001gvv.3	-	14	2326	c.2099C>T	c.(2098-2100)aCg>aTg	p.T700M		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	700					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTTGGCCATCGTTGACTTCTC	0.542													52	515					0	0	1	0	0	A	201042735	G	A	201042735	3	1	197	1	0	0	0	0	1	0	0	0	2547	1145	40	1	3642	1	CACNA1S	1	201042735	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08	25926560	201042735	48207886	3	8397											
LEFTY2	7044	broad.mit.edu	37	chr1	226125277	226125277	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgacgatcatgggcagcgagGcagtctccgaggcgatacac	10	6	14	11	4	2	1	1	1	1	0	3	5	2	1	1	3	2	2	1	3	1	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr1:226125277G>T	uc001hpt.2	-	3	1208	c.965C>A	c.(964-966)gCc>gAc	p.A322D	LEFTY2_uc010pvk.2_Missense_Mutation_p.A288D|LEFTY2_uc009xek.2_3'UTR	NM_003240	NP_003231	O00292	LFTY2_HUMAN	Homo sapiens left-right determination factor 2 (LEFTY2), transcript variant 1, mRNA.	322					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					GGGCAGCGAGGCAGTCTCCGA	0.647													3	48					1	1	1	1	0	T	226125277	G	T	226125277	3	4	197	1	0	0	0	0	1	0	0	0	8716	1203	42	5	139	5	LEFTY2	1	226125277	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08	25082542	226125277	23125344	4	8398											
OBSCN	84033	broad.mit.edu	37	chr1	228432192	228432192	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacggaggctggtgctgcCacaggcgggcaaagcagatg	10	4	16	11	2	0	1	0	0	0	1	0	2	0	2	1	5	3	4	1	5	1	0			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr1:228432192C>A	uc009xez.1	+	10	3445	c.3401C>A	c.(3400-3402)cCa>cAa	p.P1134Q	OBSCN_uc001hsn.3_Missense_Mutation_p.P1134Q	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1134	Ig-like 11.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGGTGCTGCCACAGGCGGGC	0.587													8	80					1.08611e-07	1.13662e-07	1	1	0	A	228432192	C	A	228432192	3	1	197	1	0	0	0	0	1	0	0	0	10812	594	21	5	3439	5	OBSCN	1	228432192	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	2306915	228432192	20818429	5	8399											
ZNF238	10472	broad.mit.edu	37	chr1	244218515	244218515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcacgcctgcaagtggtGcgagcgcaggttcacgcagt	7	6	15	13	5	1	0	1	0	0	0	1	1	1	0	2	2	3	5	2	2	1	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr1:244218515G>A	uc001iad.4	+	1	1612	c.1439G>A	c.(1438-1440)tGc>tAc	p.C480Y	ZNF238_uc001iae.3_Missense_Mutation_p.C471Y|ZNF238_uc001iaf.1_3'UTR	NM_205768	NP_006343	Q99592	ZN238_HUMAN	Homo sapiens zinc finger protein 238 (ZNF238), transcript variant 1, mRNA.	471					negative regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(5)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38	all_cancers(71;6.42e-05)|all_epithelial(71;7e-05)|Breast(184;0.0333)|Ovarian(71;0.0619)|all_lung(81;0.089)|all_neural(11;0.101)|Lung NSC(105;0.123)		all cancers(7;1.35e-08)|GBM - Glioblastoma multiforme(7;1e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00223)			TGCAAGTGGTGCGAGCGCAGG	0.597													28	50					0	0	1	0	0	A	244218515	G	A	244218515	3	1	197	1	0	0	0	0	1	0	0	0	17787	1319	46	3	1445	3	ZNF238	1	244218515	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08	15786323	244218515	5032106	6	8400											
MYT1L	23040	broad.mit.edu	37	chr2	1926215	1926215	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatggcctttgctctttcCgtttccaaagcgatggcttt	5	16	8	12	2	2	0	1	0	1	0	4	1	4	0	3	2	2	3	3	2	1	4			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr2:1926215C>T	uc002qxe.3	-	9	2153	c.1326G>A	c.(1324-1326)acG>acA	p.T442T	MYT1L_uc002qxd.3_Silent_p.T442T|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	442					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T442M(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTGCTCTTTCCGTTTCCAAAG	0.547													66	98					0	0	1	0	0	T	1926215	C	T	1926215	2	4	197	1	0	0	0	0	0	0	0	1	10107	639	23	2		2	MYT1L	2	1926215	Silent	SNP	C	TCGA-HT-7687-01A-11D-2253-08		1926215	241273158	7	8401											
C2orf43	60526	broad.mit.edu	37	chr2	21001131	21001131	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgatcatgaaagaggtctgtCcagggcccacattttagaac	12	10	10	9	0	2	4	1	2	1	2	3	4	3	4	2	2	1	0	2	2	3	2			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr2:21001131C>G	uc002rec.3	-	1	126	c.93G>C	c.(91-93)tgG>tgC	p.W31C	C2orf43_uc010ykb.1_Intron|C2orf43_uc010ykc.1_Missense_Mutation_p.W31C|C2orf43_uc010ykd.1_Missense_Mutation_p.W31C|C2orf43_uc010ykf.1_Intron|C2orf43_uc021vem.1_Intron|C2orf43_uc010yke.1_Missense_Mutation_p.W31C|C2orf43_uc010yka.1_Missense_Mutation_p.W31C	NM_021925	NP_068744	Q9H6V9	CB043_HUMAN	Homo sapiens chromosome 2 open reading frame 43 (C2orf43), mRNA.	31										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGGTCTGTCCAGGGCCCAC	0.423													45	81					0	0	1	0	0	G	21001131	C	G	21001131	3	3	197	1	0	0	0	0	1	0	0	0	2167	856	30	5	908	5	C2orf43	2	21001131	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	19074916	21001131	222198242	8	8402											
RANBP2	5903	broad.mit.edu	37	chr2	109382889	109382889	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcagtttggcaaaaaagAccccaatttcaagggatttt	14	13	7	7	0	2	1	2	0	0	1	2	2	2	2	2	2	0	2	2	2	5	5			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr2:109382889A>G	uc002tem.4	+	19	6020	c.5894A>G	c.(5893-5895)gAc>gGc	p.D1965G		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	1965					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GGCAAAAAAGACCCCAATTTC	0.388													13	295					0	0	1	0	0	G	109382889	A	G	109382889	3	3	197	1	0	0	0	0	1	0	0	0	13028	275	10	3	5972	3	RANBP2	2	109382889	Missense_Mutation	SNP	A	TCGA-HT-7687-01A-11D-2253-08	88381758	109382889	133816484	9	8403											
BUB1	699	broad.mit.edu	37	chr2	111398886	111398886	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaaagcataacacttgcccGtttccaagtatgaaattgtc	14	12	6	9	1	0	1	0	1	0	0	2	1	1	1	2	0	3	3	2	0	6	6			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr2:111398886G>A	uc002tgc.3	-	21	2893	c.2781C>T	c.(2779-2781)aaC>aaT	p.N927N	BUB1_uc010yxh.2_Silent_p.N907N|BUB1_uc010fkb.3_Intron	NM_004336	NP_004327	O43683	BUB1_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog (yeast) (BUB1), mRNA.	927	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ACACTTGCCCGTTTCCAAGTA	0.383													4	109					0	0	1	0	0	A	111398886	G	A	111398886	2	1	197	1	0	0	0	0	0	0	0	1	1570	1136	40	1		1	BUB1	2	111398886	Silent	SNP	G	TCGA-HT-7687-01A-11D-2253-08	2015997	111398886	131800487	10	8404											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								48	70					0	0	1	0	0	T	209113112	C	T	209113112	3	4	197	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	97714226	209113112	34086261	11	8405											
CNTN3	5067	broad.mit.edu	37	chr3	74383984	74383984	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctaacagcgggtcatgttGtacctggcagggcaatatga	10	10	13	8	1	2	1	1	1	1	0	2	1	2	1	1	3	3	4	1	3	4	4			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr3:74383984G>T	uc003dpm.1	-	11	1650	c.1570C>A	c.(1570-1572)Caa>Aaa	p.Q524K		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	524	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.V523V(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GGGTCATGTTGTACCTGGCAG	0.418													37	61					1.15183e-24	1.23411e-24	1	1	0	T	74383984	G	T	74383984	3	4	197	1	0	0	0	0	1	0	0	0	3642	1386	48	5	1560	5	CNTN3	3	74383984	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08		74383984	123638446	12	8406											
OR5K3	403277	broad.mit.edu	37	chr3	98109669	98109669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattgatttatatagagcaaCgtcttcacacaccaatgtac	14	12	5	10	1	2	2	1	1	1	1	2	2	2	2	1	0	3	2	1	0	6	7	rs150899692		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr3:98109669C>T	uc011bgw.2	+	0	160	c.160C>T	c.(160-162)Cgt>Tgt	p.R54C		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 3 (OR5K3), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TATAGAGCAACGTCTTCACAC	0.413													95	178					0	0	1	0	0	T	98109669	C	T	98109669	3	4	197	1	0	0	0	0	1	0	0	0	11168	536	19	1	162	1	OR5K3	3	98109669	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	23725685	98109669	99912761	13	8407											
PHC3	80012	broad.mit.edu	37	chr3	169835095	169835095	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttaacaatagcctgtggAggtttgttctctatactggg	8	15	12	6	0	1	0	0	0	1	0	2	1	1	1	1	4	3	3	1	4	5	7			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr3:169835095A>G	uc003fgl.2	-	9	2146	c.2112T>C	c.(2110-2112)ccT>ccC	p.P704P	PHC3_uc010hws.1_Silent_p.P692P|PHC3_uc011bpq.1_Silent_p.P651P	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.	692					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TAGCCTGTGGAGGTTTGTTCT	0.433													6	65					0	0	1	0	0	G	169835095	A	G	169835095	2	3	197	1	0	0	0	0	0	0	0	1	11818	291	11	4		4	PHC3	3	169835095	Silent	SNP	A	TCGA-HT-7687-01A-11D-2253-08	71725426	169835095	28187335	14	8408											
OPA1	4976	broad.mit.edu	37	chr3	193360822	193360822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaaatgtgaaagaaggctGtaccgttagccctgaggtaa	15	8	12	6	1	0	3	0	2	0	1	0	4	0	3	2	2	2	4	2	2	7	3			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr3:193360822G>A	uc003ftg.3	+	12	1523	c.1289G>A	c.(1288-1290)tGt>tAt	p.C430Y	OPA1_uc003fth.3_Missense_Mutation_p.C394Y|OPA1_uc003fti.3_Missense_Mutation_p.C412Y|OPA1_uc003ftj.3_Missense_Mutation_p.C393Y|OPA1_uc003ftk.3_Missense_Mutation_p.C376Y|OPA1_uc003ftl.3_Missense_Mutation_p.C357Y|OPA1_uc003ftm.3_Missense_Mutation_p.C375Y|OPA1_uc003ftn.3_Missense_Mutation_p.C339Y	NM_130837	NP_570850	O60313	OPA1_HUMAN	Homo sapiens optic atrophy 1 (autosomal dominant) (OPA1), nuclear gene encoding mitochondrial protein, transcript variant 8, mRNA.	375			Missing (in OPA1).|N -> D (in OPA1).		apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AAAGAAGGCTGTACCGTTAGC	0.323													3	44					0	0	1	0	0	A	193360822	G	A	193360822	3	1	197	1	0	0	0	0	1	0	0	0	10871	1377	48	3	1339	3	OPA1	3	193360822	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08	23525727	193360822	4661608	15	8409											
LMLN	89782	broad.mit.edu	37	chr3	197707307	197707307	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgttggtgctctggccacCgagagatgcagccatgaaaa	11	8	12	10	2	1	2	0	1	1	1	1	4	1	2	3	2	4	3	3	2	3	2			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr3:197707307C>T	uc010iar.3	+	5	682	c.660C>T	c.(658-660)acC>acT	p.T220T	LMLN_uc003fyt.3_Silent_p.T168T|LMLN_uc011buo.2_Silent_p.T220T|LMLN_uc010ias.3_Silent_p.T168T|LMLN_uc003fyu.3_5'UTR	NM_001136049	NP_001129521	Q96KR4	LMLN_HUMAN	Homo sapiens leishmanolysin-like (metallopeptidase M8 family) (LMLN), transcript variant 1, mRNA.	220					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	p.T220T(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CTCTGGCCACCGAGAGATGCA	0.502													5	203					0	0	1	0	0	T	197707307	C	T	197707307	2	4	197	1	0	0	0	0	0	0	0	1	8847	639	23	2		2	LMLN	3	197707307	Silent	SNP	C	TCGA-HT-7687-01A-11D-2253-08	4346485	197707307	315123	16	8410											
HTT	3064	broad.mit.edu	37	chr4	3225848	3225848	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcccttctctgtctccGgctactacaggtacctgagg	5	12	9	15	1	2	1	0	1	2	0	5	1	3	1	4	3	3	2	4	3	3	4			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr4:3225848G>A	uc021xkv.1	+	55	7900	c.7755G>A	c.(7753-7755)ccG>ccA	p.P2585P		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	2585					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CTCTGTCTCCGGCTACTACAG	0.512													12	266					0	0	1	0	0	A	3225848	G	A	3225848	2	1	197	1	0	0	0	0	0	0	0	1	7457	1103	39	2		2	HTT	4	3225848	Silent	SNP	G	TCGA-HT-7687-01A-11D-2253-08		3225848	187928428	17	8411											
ANKRD17	26057	broad.mit.edu	37	chr4	73942823	73942823	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acacagaaaaaggcatacccTtaaaaaaggaaaacacacac	23	3	5	10	0	0	1	0	0	0	1	0	2	0	2	1	2	2	1	1	2	8	2			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr4:73942823T>C	uc003hgp.3	-	33	7705	c.7588_splice	c.e33-1	p.G2530_splice	ANKRD17_uc003hgo.3_Splice_Site_p.G2417_splice|ANKRD17_uc003hgq.3_Splice_Site_p.G2279_splice|ANKRD17_uc003hgr.3_Splice_Site_p.G2529_splice	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	2530					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGGCATACCCTTAAAAAAGGA	0.388													5	29					0	0	1	0	0	C	73942823	T	C	73942823	5	2	197	1	0	0	0	0	0	0	1	0	646	1623	56	4	233	4	ANKRD17	4	73942823	Splice_Site	SNP	T	TCGA-HT-7687-01A-11D-2253-08	70716975	73942823	117211453	18	8412											
TRIO	7204	broad.mit.edu	37	chr5	14498282	14498282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatgtcgagtctgtggccGccccaaagcctcaattacct	9	10	9	13	2	2	1	1	0	1	1	3	2	2	1	5	1	2	0	5	1	4	2			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr5:14498282G>A	uc003jff.3	+	51	8138	c.8132G>A	c.(8131-8133)cGc>cAc	p.R2711H	TRIO_uc003jfg.3_Non-coding_Transcript	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	2711	Ig-like C2-type.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GTCTGTGGCCGCCCCAAAGCC	0.542													3	74					0	0	1	0	0	A	14498282	G	A	14498282	3	1	197	1	0	0	0	0	1	0	0	0	16549	1087	38	1	8338	1	TRIO	5	14498282	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08		14498282	166416978	19	8413											
FCHSD1	89848	broad.mit.edu	37	chr5	141023973	141023973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcctctgcactctgtcCggtgtagctgtacagggcct	5	11	11	14	1	2	0	0	0	2	0	4	0	4	0	3	2	4	5	3	2	2	2			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr5:141023973C>T	uc003llk.3	-	16	1726	c.1675G>A	c.(1675-1677)Gga>Aga	p.G559R	FCHSD1_uc010jgg.3_Missense_Mutation_p.G242R|FCHSD1_uc003llj.3_Non-coding_Transcript	NM_033449	NP_258260	Q86WN1	FCSD1_HUMAN	Homo sapiens FCH and double SH3 domains 1 (FCHSD1), mRNA.	559	SH3 2.								FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACTCTGTCCGGTGTAGCTG	0.622													20	23					0	0	1	0	0	T	141023973	C	T	141023973	3	4	197	1	0	0	0	0	1	0	0	0	5789	661	23	2	413	2	FCHSD1	5	141023973	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	126525691	141023973	39891287	20	8414											
SLC36A3	285641	broad.mit.edu	37	chr5	150663635	150663635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaagttgagggtgatgctgGcctgggtgtctgacccaaac	8	9	15	9	0	1	3	0	3	1	0	1	3	1	3	2	3	2	3	2	3	2	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr5:150663635G>A	uc003ltx.2	-	8	1486	c.1067C>T	c.(1066-1068)gCc>gTc	p.A356V	SLC36A3_uc003ltv.2_Missense_Mutation_p.A300V|SLC36A3_uc003ltw.2_Missense_Mutation_p.A315V	NM_001145017	NP_001138489	Q495N2	S36A3_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 3 (SLC36A3), transcript variant 1, mRNA.	315						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTGATGCTGGCCTGGGTGTC	0.498													5	160					0	0	1	0	0	A	150663635	G	A	150663635	3	1	197	1	0	0	0	0	1	0	0	0	14595	1203	42	3	480	3	SLC36A3	5	150663635	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08	9639662	150663635	30251625	21	8415											
RREB1	6239	broad.mit.edu	37	chr6	7211105	7211105	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctccatctcctctgaaacGtaggcgattgtcctccaaga	9	10	7	15	2	2	2	0	1	2	1	6	3	5	2	5	1	1	1	5	1	3	2			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:7211105G>A	uc003mxb.3	+	6	986	c.494G>A	c.(493-495)cGt>cAt	p.R165H	RREB1_uc021yky.1_Missense_Mutation_p.R165H|RREB1_uc010jnw.3_Missense_Mutation_p.R165H|RREB1_uc003mxc.3_Missense_Mutation_p.R165H|RREB1_uc010jnx.3_Missense_Mutation_p.R165H|RREB1_uc003mxd.3_Missense_Mutation_p.R165H|RREB1_uc021ykz.1_Missense_Mutation_p.R165H|RREB1_uc021yla.1_Missense_Mutation_p.R165H	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	165					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCTCTGAAACGTAGGCGATTG	0.502													5	190					0	0	1	0	0	A	7211105	G	A	7211105	3	1	197	1	0	0	0	0	1	0	0	0	13679	1145	40	1	508	1	RREB1	6	7211105	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08		7211105	163903962	22	8416											
HLA-DOA	3111	broad.mit.edu	37	chr6	32975227	32975227	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatagaagctggtctgggcCactccctcagtgacagtttg	9	10	12	10	0	2	2	1	1	1	1	3	3	3	2	2	2	1	2	2	2	3	2			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:32975227C>T	uc003ocr.3	-	2	550	c.474G>A	c.(472-474)gtG>gtA	p.V158V	HLA-DOA_uc010juj.3_Silent_p.V128V|HLA-DOA_uc010jui.3_Silent_p.V158V	NM_002119	NP_002110	P06340	DOA_HUMAN	Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.	158	Alpha-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	MHC class II protein complex|endosome membrane|integral to membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						TGGTCTGGGCCACTCCCTCAG	0.577													91	186					0	0	1	0	0	T	32975227	C	T	32975227	2	4	197	1	0	0	0	0	0	0	0	1	7200	581	21	3		3	HLA-DOA	6	32975227	Silent	SNP	C	TCGA-HT-7687-01A-11D-2253-08	25764122	32975227	138139840	23	8417											
OPN5	221391	broad.mit.edu	37	chr6	47775993	47775993	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactccattcccatacagcTctctgtggtgccaaccctac	9	10	6	16	0	1	1	0	0	1	1	4	1	3	1	4	1	5	1	4	1	3	3			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:47775993T>A	uc003ozc.3	+	4	888	c.860T>A	c.(859-861)cTc>cAc	p.L287H	OPN5_uc003ozd.3_Missense_Mutation_p.L122H	NM_181744	NP_859528	Q6U736	OPN5_HUMAN	Homo sapiens opsin 5 (OPN5), transcript variant 1, mRNA.	287					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	p.Q286L(2)|p.L287L(1)		endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						CCCATACAGCTCTCTGTGGTG	0.463													63	112					0	0	1	0	0	A	47775993	T	A	47775993	3	1	197	1	0	0	0	0	1	0	0	0	10883	1551	54	5	878	5	OPN5	6	47775993	Missense_Mutation	SNP	T	TCGA-HT-7687-01A-11D-2253-08	14800766	47775993	123339074	24	8418											
PRIM2	5558	broad.mit.edu	37	chr6	57512602	57512602	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcaacccaaaccaagtgTccagaaaaccaaggatgcat	16	6	6	13	0	1	1	1	0	0	1	3	2	3	2	5	1	4	1	5	1	6	0			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:57512602T>C	uc003pdx.3	+	14	1514	c.1427T>C	c.(1426-1428)gTc>gCc	p.V476A		NM_000947	NP_000938	P49643	PRI2_HUMAN	Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.	477					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		AAACCAAGTGTCCAGAAAACC	0.398													45	403					0	0	1	0	0	C	57512602	T	C	57512602	3	2	197	1	0	0	0	0	1	0	0	0	12491	1667	58	3	1480	3	PRIM2	6	57512602	Missense_Mutation	SNP	T	TCGA-HT-7687-01A-11D-2253-08	9736609	57512602	113602465	25	8419											
ZNF292	23036	broad.mit.edu	37	chr6	87968456	87968457	+	Frame_Shift_Del	DEL	AG	AG	-																															ttatttatgactgatgtaaaAgagaatttcaaaaccagtct																										TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:87968456_87968457delAG	uc003plm.4	+	7	5150_5151	c.5109_5110delAG	c.(5107-5112)aaagagfs	p.K1703fs		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	1703					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CTGATGTAAAAGAGAATTTCAA	0.327													12	31	---	---	---	---						-	87968457	AG	-	87968456	7	5	197	1	0	1	0	1	0	0	0	0	17823	69	3	0	5139	0	ZNF292	6	87968456	Frame_Shift_Del	DEL	AG	TCGA-HT-7687-01A-11D-2253-08	30455854	87968456	83146611	26	8420											
C6orf58	352999	broad.mit.edu	37	chr6	127911321	127911321	+	Frame_Shift_Del	DEL	C	C	-																															tgcagtcctctttcctacaaCcttgattagatcatataagt																										TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:127911321delC	uc003qbh.3	+	4	776	c.764delC	c.(763-765)accfs	p.T255fs		NM_001010905	NP_001010905	Q6P5S2	CF058_HUMAN	Homo sapiens chromosome 6 open reading frame 58 (C6orf58), mRNA.	255						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		TTTCCTACAACCTTGATTAGA	0.388													7	190	---	---	---	---						-	127911321	C	-	127911321	7	5	197	1	0	1	0	1	0	0	0	0	2367	507	18	0	782	0	C6orf58	6	127911321	Frame_Shift_Del	DEL	C	TCGA-HT-7687-01A-11D-2253-08	39942865	127911321	43203746	27	8421											
AHI1	54806	broad.mit.edu	37	chr6	135787392	135787392	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttcagttgctaactgtgtGttcctcaatttgtttttagt	6	22	7	6	0	2	0	2	0	0	0	3	0	3	0	1	0	2	4	1	0	3	9			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:135787392G>A	uc003qgi.3	-	6	693	c.309C>T	c.(307-309)aaC>aaT	p.N103N	AHI1_uc003qgh.3_Silent_p.N103N|AHI1_uc003qgj.3_Silent_p.N103N|AHI1_uc003qgk.4_Non-coding_Transcript|AHI1_uc003qgl.3_Silent_p.N103N	NM_001134831	NP_060121	Q8N157	AHI1_HUMAN	Homo sapiens Abelson helper integration site 1 (AHI1), transcript variant 1, mRNA.	103						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CTAACTGTGTGTTCCTCAATT	0.393													85	95					0	0	1	0	0	A	135787392	G	A	135787392	2	1	197	1	0	0	0	0	0	0	0	1	413	1368	48	3		3	AHI1	6	135787392	Silent	SNP	G	TCGA-HT-7687-01A-11D-2253-08	7876071	135787392	35327675	28	8422											
PKD1L1	168507	broad.mit.edu	37	chr7	47933628	47933628	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcccacacagtagttgCtgtacaccacactgccttca	10	8	7	16	0	1	0	1	0	0	0	1	0	1	0	4	1	3	4	4	1	2	4			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:47933628C>G	uc003tny.2	-	14	2334	c.2300G>C	c.(2299-2301)aGc>aCc	p.S767T		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	767	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACAGTAGTTGCTGTACACCAC	0.572													33	68					0	0	1	0	0	G	47933628	C	G	47933628	3	3	197	1	0	0	0	0	1	0	0	0	11964	797	28	5	6421	5	PKD1L1	7	47933628	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08		47933628	111205035	29	8423											
ABCA13	154664	broad.mit.edu	37	chr7	48411941	48411941	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttggattttgggatgtcAgtcgtcatgctgagctacct	6	15	11	9	1	3	1	2	1	1	0	4	3	3	3	1	2	3	2	1	2	1	4			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:48411941A>T	uc003toq.2	+	32	11004	c.10980A>T	c.(10978-10980)tcA>tcT	p.S3660S	ABCA13_uc010kys.1_Silent_p.S734S|ABCA13_uc003tos.1_Silent_p.S486S	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3660					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTGGGATGTCAGTCGTCATGC	0.458													6	266					0	0	1	0	0	T	48411941	A	T	48411941	2	4	197	1	0	0	0	0	0	0	0	1	31	175	7	5		5	ABCA13	7	48411941	Silent	SNP	A	TCGA-HT-7687-01A-11D-2253-08	478313	48411941	110726722	30	8424											
GTF2IRD2	84163	broad.mit.edu	37	chr7	74212378	74212378	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagagatacttcctgagcccTtttttcagctcgtgaagctt	9	14	8	10	1	1	3	1	2	0	1	3	4	2	3	2	0	4	2	2	0	3	6			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:74212378T>C	uc003ubd.1	-	15	1657	c.1473A>G	c.(1471-1473)aaA>aaG	p.K491K	GTF2IRD2_uc010lbt.1_Silent_p.K38K	NM_173537	NP_775808	Q86UP8	GTD2A_HUMAN	Homo sapiens GTF2I repeat domain containing 2 (GTF2IRD2), mRNA.	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						tcctgagcccttttttcagct	0.468													3	106					0	0	1	0	0	C	74212378	T	C	74212378	2	2	197	1	0	0	0	0	0	0	0	1	6869	1606	56	4		4	GTF2IRD2	7	74212378	Silent	SNP	T	TCGA-HT-7687-01A-11D-2253-08	25800437	74212378	84926285	31	8425											
MUC17	140453	broad.mit.edu	37	chr7	100679973	100679973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtatacctgtcagcaccaCgccggtactcagttctgagg	10	9	10	12	2	3	1	2	1	1	0	3	1	3	1	3	2	3	4	3	2	4	4			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:100679973C>T	uc003uxp.1	+	2	5329	c.5276C>T	c.(5275-5277)aCg>aTg	p.T1759M	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1759	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTCAGCACCACGCCGGTACTC	0.502													223	351					0	0	1	0	0	T	100679973	C	T	100679973	3	4	197	1	0	0	0	0	1	0	0	0	9974	536	19	1	5286	1	MUC17	7	100679973	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	26467595	100679973	58458690	32	8426											
NUP205	23165	broad.mit.edu	37	chr7	135298930	135298930	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atatatcagttatgtgcatgCtctgatacatctggtcctac	10	15	7	9	0	3	1	1	1	2	0	4	1	4	1	1	1	4	3	1	1	5	5			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:135298930C>T	uc003vsw.3	+	22	3250	c.3219C>T	c.(3217-3219)tgC>tgT	p.C1073C		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	1073					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TATGTGCATGCTCTGATACAT	0.358													4	87					0	0	1	0	0	T	135298930	C	T	135298930	2	4	197	1	0	0	0	0	0	0	0	1	10759	805	28	3		3	NUP205	7	135298930	Silent	SNP	C	TCGA-HT-7687-01A-11D-2253-08	34618957	135298930	23839733	33	8427											
OR2A14	135941	broad.mit.edu	37	chr7	143826799	143826799	+	Frame_Shift_Del	DEL	C	C	-																															tggctcaaccaggtggtcatCtttgcagcctgcgtgttcat																										TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:143826799delC	uc011kua.2	+	0	594	c.594delC	c.(592-594)atcfs	p.I198fs		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					AGGTGGTCATCTTTGCAGCCT	0.577													184	245	---	---	---	---						-	143826799	C	-	143826799	7	5	197	1	0	1	0	1	0	0	0	0	10976	903	32	0	596	0	OR2A14	7	143826799	Frame_Shift_Del	DEL	C	TCGA-HT-7687-01A-11D-2253-08	8527869	143826799	15311864	34	8428											
TSTA3	7264	broad.mit.edu	37	chr8	144696860	144696860	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctgttgtggggaggcccaTtgtggatctgcgggcgtggg	3	11	20	7	2	1	0	0	0	1	0	1	2	1	2	1	6	2	2	1	6	0	2			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr8:144696860T>C	uc003yza.2	-	4	434	c.398A>G	c.(397-399)aAt>aGt	p.N133S	TSTA3_uc003yzb.2_Missense_Mutation_p.N133S|TSTA3_uc011lko.1_Missense_Mutation_p.M163V	NM_003313	NP_003304	Q13630	FCL_HUMAN	Homo sapiens tissue specific transplantation antigen P35B (TSTA3), mRNA.	133					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|coenzyme binding|electron carrier activity|isomerase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	GGGAGGCCCATTGTGGATCTG	0.662													3	128					0	0	1	0	0	C	144696860	T	C	144696860	3	2	197	1	0	0	0	0	1	0	0	0	16671	1493	52	3	595	3	TSTA3	8	144696860	Missense_Mutation	SNP	T	TCGA-HT-7687-01A-11D-2253-08		144696860	1667162	35	8429											
SH3GL2	6456	broad.mit.edu	37	chr9	17795580	17795580	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgctgccgagctctgtacGactttgaacctgaaaatgaa	11	10	9	11	2	1	3	0	3	1	0	1	5	1	3	3	0	5	3	3	0	5	2	rs139383722		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr9:17795580G>A	uc003zna.3	+	8	1186	c.898G>A	c.(898-900)Gac>Aac	p.D300N	SH3GL2_uc011lmy.2_Missense_Mutation_p.D253N	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	Homo sapiens SH3-domain GRB2-like 2 (SH3GL2), mRNA.	300	SH3.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	Golgi membrane|cytosol|plasma membrane	identical protein binding|lipid binding	p.D300N(2)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		AGCTCTGTACGACTTTGAACC	0.463													25	36					0	0	1	0	0	A	17795580	G	A	17795580	3	1	197	1	0	0	0	0	1	0	0	0	14251	1058	37	2	932	2	SH3GL2	9	17795580	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08		17795580	123417851	36	8430											
ECM2	1842	broad.mit.edu	37	chr9	95277148	95277148	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccctcctcctcctcatcCtcctcctcctcccttccttg	2	14	1	24	0	2	0	2	0	0	0	11	0	11	0	10	0	0	0	10	0	0	2			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr9:95277148C>A	uc011lty.2	-	3	1006	c.819G>T	c.(817-819)gaG>gaT	p.E273D	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ECM2_uc004asf.4_Missense_Mutation_p.E251D|ECM2_uc004asg.3_Missense_Mutation_p.E251D	NM_001393	NP_001384	O94769	ECM2_HUMAN	Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 1, mRNA.	273	Poly-Glu.				cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						cctcctcatcctcctcctcct	0.607													4	118					0.00024832	0.000256883	1	1	0	A	95277148	C	A	95277148	3	1	197	1	0	0	0	0	1	0	0	0	4898	680	24	5	1308	5	ECM2	9	95277148	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	77481568	95277148	45936283	37	8431											
RALGDS	5900	broad.mit.edu	37	chr9	135979652	135979652	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttgggcactctcaccgTctccttcggccgtttctggg	2	12	12	15	3	3	0	1	0	3	0	6	0	3	0	4	4	0	2	4	4	0	3			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr9:135979652T>C	uc004cco.3	-	9	1689	c.1669A>G	c.(1669-1671)Acg>Gcg	p.T557A	RALGDS_uc004ccn.3_5'Flank|RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_Missense_Mutation_p.T545A|RALGDS_uc004ccr.3_Missense_Mutation_p.T556A|RALGDS_uc011mcv.2_Missense_Mutation_p.T528A|RALGDS_uc004ccs.3_Missense_Mutation_p.T502A|RALGDS_uc011mcw.2_Missense_Mutation_p.T628A|RALGDS_uc004ccv.1_Missense_Mutation_p.T326A|RALGDS_uc004ccu.1_Missense_Mutation_p.T326A	NM_006266	NP_006257	Q12967	GNDS_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA.	557	Ras-GEF.				Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		ACTCTCACCGTCTCCTTCGGC	0.657			T	CIITA	"PMBL, Hodgkin Lymphona, "								28	33					0	0	1	0	0	C	135979652	T	C	135979652	3	2	197	1	0	0	0	0	1	0	0	0	13016	1667	58	3	1111	3	RALGDS	9	135979652	Missense_Mutation	SNP	T	TCGA-HT-7687-01A-11D-2253-08	40702504	135979652	5233779	38	8432											
ANKRD30A	91074	broad.mit.edu	37	chr10	37430688	37430688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaggctgcacccttggCggaaagaacacctgacacag	12	6	12	11	1	0	4	0	3	0	1	0	5	0	5	2	3	2	2	2	3	2	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr10:37430688C>T	uc021ppc.1	+	6	794	c.695C>T	c.(694-696)gCg>gTg	p.A232V	ANKRD30A_uc001iza.1_Missense_Mutation_p.A232V	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	288						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.A232V(2)|p.A232A(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GCACCCTTGGCGGAAAGAACA	0.483													5	68					0	0	1	0	0	T	37430688	C	T	37430688	3	4	197	1	0	0	0	0	1	0	0	0	658	768	27	1	721	1	ANKRD30A	10	37430688	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08		37430688	98104059	39	8433											
GDF10	2662	broad.mit.edu	37	chr10	48426631	48426631	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttcagaaccacattccgaTtctcatccaggaagaggacc	12	8	7	14	1	2	2	2	0	1	2	5	5	4	4	5	2	1	0	5	2	2	3			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr10:48426631T>C	uc001jfb.3	-	2	1804	c.1376A>G	c.(1375-1377)aAt>aGt	p.N459S	GDF10_uc009xnp.3_Missense_Mutation_p.N458S	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	459					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	p.E458D(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CACATTCCGATTCTCATCCAG	0.582											OREG0020165	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	203					0	0	1	0	0	C	48426631	T	C	48426631	3	2	197	1	0	0	0	0	1	0	0	0	6311	1493	52	3	64	3	GDF10	10	48426631	Missense_Mutation	SNP	T	TCGA-HT-7687-01A-11D-2253-08	10995943	48426631	87108116	40	8434											
ERCC6	2074	broad.mit.edu	37	chr10	50667030	50667030	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggccatcagtgtgggccTggaaagcgatgaagtttctc	8	10	13	10	1	2	1	1	1	1	0	3	3	2	2	3	3	1	1	3	3	2	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr10:50667030T>C	uc001jhs.4	-	20	4467	c.4313A>G	c.(4312-4314)cAg>cGg	p.Q1438R	ERCC6_uc009xod.3_Missense_Mutation_p.Q598R|ERCC6_uc010qgr.2_Missense_Mutation_p.Q808R|ERCC6_uc001jhr.4_Missense_Mutation_p.Q806R	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	1438					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGTGTGGGCCTGGAAAGCGAT	0.517								Direct reversal of damage;Nucleotide excision repair (NER)					3	118					0	0	1	0	0	C	50667030	T	C	50667030	3	2	197	1	0	0	0	0	1	0	0	0	5217	1580	55	4	172	4	ERCC6	10	50667030	Missense_Mutation	SNP	T	TCGA-HT-7687-01A-11D-2253-08	2240399	50667030	84867717	41	8435											
VAX1	11023	broad.mit.edu	37	chr10	118896039	118896039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctctcgcggcccaccaCgtactggcagcgctggaact	6	7	12	16	4	1	0	0	0	1	0	3	1	2	1	3	4	3	3	3	4	2	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr10:118896039C>T	uc009xyx.3	-	1	618	c.373G>A	c.(373-375)Gtg>Atg	p.V125M	VAX1_uc001ldb.1_Missense_Mutation_p.V125M	NM_001112704	NP_001106175	Q5SQQ9	VAX1_HUMAN	Homo sapiens ventral anterior homeobox 1 (VAX1), transcript variant 1, mRNA.	125						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		CGGCCCACCACGTACTGGCAG	0.667													16	41					0	0	1	0	0	T	118896039	C	T	118896039	3	4	197	1	0	0	0	0	1	0	0	0	17131	536	19	1	779	1	VAX1	10	118896039	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	68229009	118896039	16638708	42	8436											
C11orf42	160298	broad.mit.edu	37	chr11	6231500	6231500	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcatctatgtcatctaccagGtcttctcttgttcctggctg	5	16	8	12	0	5	0	1	0	4	0	7	0	6	0	2	2	1	3	2	2	2	5			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr11:6231500G>C	uc001mcj.3	+	1	541	c.493G>C	c.(493-495)Gtc>Ctc	p.V165L		NM_173525	NP_775796	Q8N5U0	CK042_HUMAN	Homo sapiens chromosome 11 open reading frame 42 (C11orf42), mRNA.	165										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCTACCAGGTCTTCTCTTG	0.587													11	156					0	0	1	0	0	C	6231500	G	C	6231500	3	2	197	1	0	0	0	0	1	0	0	0	1641	1261	44	5	499	5	C11orf42	11	6231500	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08		6231500	128775016	43	8437											
UEVLD	55293	broad.mit.edu	37	chr11	18568522	18568522	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacattgctctgtaccacaTcaaggtacgactgagaacta	13	9	7	12	1	2	1	1	1	1	1	2	3	2	1	2	1	4	3	2	1	5	4			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr11:18568522T>A	uc001mot.3	-	7	871	c.791A>T	c.(790-792)gAt>gTt	p.D264V	UEVLD_uc001mou.3_Missense_Mutation_p.D264V|UEVLD_uc010rde.2_Missense_Mutation_p.D134V|UEVLD_uc010rdf.2_Missense_Mutation_p.D242V|UEVLD_uc010rdg.2_Missense_Mutation_p.D134V|UEVLD_uc001mov.3_Missense_Mutation_p.D242V	NM_001040697	NP_001035787	Q8IX04	UEVLD_HUMAN	Homo sapiens UEV and lactate/malate dehyrogenase domains (UEVLD), transcript variant 1, mRNA.	264					cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CTGTACCACATCAAGGTACGA	0.458													10	99					0	0	1	0	0	A	18568522	T	A	18568522	3	1	197	1	0	0	0	0	1	0	0	0	16930	1435	50	5	644	5	UEVLD	11	18568522	Missense_Mutation	SNP	T	TCGA-HT-7687-01A-11D-2253-08	12337022	18568522	116437994	44	8438											
OR4A16	81327	broad.mit.edu	37	chr11	55111416	55111416	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacatcattgtggttgcccTcgtttttgttccctgtattt	4	19	7	11	1	1	0	1	0	0	0	3	0	2	0	3	1	1	4	3	1	1	7			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr11:55111416T>C	uc010rie.2	+	0	740	c.740T>C	c.(739-741)cTc>cCc	p.L247P		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GTGGTTGCCCTCGTTTTTGTT	0.398													16	41					0	0	1	0	0	C	55111416	T	C	55111416	3	2	197	1	0	0	0	0	1	0	0	0	11041	1551	54	4	742	4	OR4A16	11	55111416	Missense_Mutation	SNP	T	TCGA-HT-7687-01A-11D-2253-08	36542894	55111416	79895100	45	8439											
SLC22A10	387775	broad.mit.edu	37	chr11	63064875	63064875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccctgtttactgtgtactaCgcttcttggcaggtttttct	4	19	8	10	1	2	0	0	0	2	0	3	0	3	0	1	2	3	5	1	2	3	8			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr11:63064875C>T	uc009yor.3	+	2	815	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	SLC22A10_uc010rmo.1_Non-coding_Transcript|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Intron	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	203						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGTGTACTACGCTTCTTGGC	0.408													4	130					0	0	1	0	0	T	63064875	C	T	63064875	3	4	197	1	0	0	0	0	1	0	0	0	14441	536	19	1	617	1	SLC22A10	11	63064875	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	7953459	63064875	71941641	46	8440											
DCN	1634	broad.mit.edu	37	chr12	91546948	91546948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccatcaagatgtaattccGtaagggaaggaggaagacct	14	8	12	7	1	1	2	1	0	0	2	2	5	2	5	3	3	1	2	3	3	5	3	rs144174426		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr12:91546948G>A	uc001tbt.3	-	5	925	c.671C>T	c.(670-672)aCg>aTg	p.T224M	DCN_uc001tbo.3_Missense_Mutation_p.T115M|DCN_uc001tbp.3_Missense_Mutation_p.T77M|DCN_uc001tbq.3_Intron|DCN_uc001tbr.3_Intron|DCN_uc001tbu.3_Missense_Mutation_p.T224M	NM_133503	NP_598010	P07585	PGS2_HUMAN	Homo sapiens decorin (DCN), transcript variant A2, mRNA.	224					organ morphogenesis	extracellular space		p.T224M(2)		central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						ATGTAATTCCGTAAGGGAAGG	0.348													7	122					0	0	1	0	0	A	91546948	G	A	91546948	3	1	197	1	0	0	0	0	1	0	0	0	4297	1145	40	1	420	1	DCN	12	91546948	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08		91546948	42304947	47	8441											
MYO1H	283446	broad.mit.edu	37	chr12	109835562	109835562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaaatgccagaacgctccGgaatgacaactccagcagat	14	6	10	11	2	0	3	0	1	0	2	2	5	2	5	3	2	4	2	3	2	4	0			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr12:109835562G>A	uc010sxn.1	+	3	467	c.467G>A	c.(466-468)cGg>cAg	p.R156Q		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	0						myosin complex	motor activity	p.L155L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						AGAACGCTCCGGAATGACAAC	0.408													3	40					0	0	1	0	0	A	109835562	G	A	109835562	3	1	197	1	0	0	0	0	1	0	0	0	10075	1116	39	2	481	2	MYO1H	12	109835562	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08	18288614	109835562	24016333	48	8442											
CUX2	23316	broad.mit.edu	37	chr12	111729277	111729277	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgacagactgcagcccccCagctttgaccccagtgggca	9	5	11	16	1	0	2	0	1	0	1	0	4	0	2	5	1	3	3	5	1	0	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr12:111729277C>T	uc001tsa.2	+	4	511	c.357C>T	c.(355-357)ccC>ccT	p.P119P	CUX2_uc001tsb.2_Silent_p.P174P	NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	119						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TGCAGCCCCCCAGCTTTGACC	0.617													8	108					0	0	1	0	0	T	111729277	C	T	111729277	2	4	197	1	0	0	0	0	0	0	0	1	4065	581	21	3		3	CUX2	12	111729277	Silent	SNP	C	TCGA-HT-7687-01A-11D-2253-08	1893715	111729277	22122618	49	8443											
PRKD1	5587	broad.mit.edu	37	chr14	30105555	30105555	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttgcatctcgccactgtcGttctggcactctgccattgc	4	14	8	15	2	4	0	0	0	4	0	6	0	4	0	2	1	3	3	2	1	0	3			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr14:30105555G>A	uc001wqh.3	-	6	1312	c.1131C>T	c.(1129-1131)aaC>aaT	p.N377N	MIR548AI_uc021rrv.1_Intron	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	Homo sapiens protein kinase D1 (PRKD1), mRNA.	377					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CGCCACTGTCGTTCTGGCACT	0.542													97	173					0	0	1	0	0	A	30105555	G	A	30105555	2	1	197	1	0	0	0	0	0	0	0	1	12518	1136	40	1		1	PRKD1	14	30105555	Silent	SNP	G	TCGA-HT-7687-01A-11D-2253-08		30105555	77243985	50	8444											
CLEC14A	161198	broad.mit.edu	37	chr14	38724727	38724727	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtacttgcacaggtagccGttggcgcgcaggtggcatcg	6	9	16	10	4	0	0	0	0	0	0	1	0	0	0	1	5	3	6	1	5	2	4			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr14:38724727G>A	uc001wum.1	-	0	848	c.501C>T	c.(499-501)aaC>aaT	p.N167N		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	167	C-type lectin.					integral to membrane	sugar binding	p.N167N(2)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		ACAGGTAGCCGTTGGCGCGCA	0.682													4	74					0	0	1	0	0	A	38724727	G	A	38724727	2	1	197	1	0	0	0	0	0	0	0	1	3499	1136	40	1		1	CLEC14A	14	38724727	Silent	SNP	G	TCGA-HT-7687-01A-11D-2253-08	8619172	38724727	68624813	51	8445											
NEO1	4756	broad.mit.edu	37	chr15	73541990	73541990	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatacagagtatagtttcCgagtggtggcctacaataaa	15	11	9	6	1	0	1	0	0	0	1	1	2	1	1	2	2	2	2	2	2	9	7			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr15:73541990C>T	uc002avm.4	+	10	2014	c.1822C>T	c.(1822-1824)Cga>Tga	p.R608*	NEO1_uc010ukx.2_Nonsense_Mutation_p.R608*|NEO1_uc010uky.2_Nonsense_Mutation_p.R608*|NEO1_uc002avn.4_Nonsense_Mutation_p.R628*|NEO1_uc010ukz.2_Nonsense_Mutation_p.R32*	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	608	Fibronectin type-III 2.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GTATAGTTTCCGAGTGGTGGC	0.378													4	117					0	0	1	0	0	T	73541990	C	T	73541990	4	4	197	1	0	0	0	0	0	1	0	0	10336	644	23	2	1864	2	NEO1	15	73541990	Nonsense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08		73541990	28989402	52	8446											
NAGPA	51172	broad.mit.edu	37	chr16	5081777	5081777	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtctcgtcacactctgtggcTtggctctcgttgatgtagat	5	15	11	10	2	4	2	1	1	3	1	6	2	4	2	0	2	0	4	0	2	1	3			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr16:5081777T>C	uc002cyg.3	-	2	678	c.651A>G	c.(649-651)caA>caG	p.Q217Q	ALG1_uc002cyj.3_5'Flank|NAGPA_uc010buc.3_5'Flank|NAGPA_uc002cyh.3_Non-coding_Transcript|NAGPA_uc010uxx.2_3'UTR|ALG1_uc021tco.1_5'Flank	NM_016256	NP_057340	Q9UK23	NAGPA_HUMAN	Homo sapiens N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase (NAGPA), mRNA.	217					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	ACTCTGTGGCTTGGCTCTCGT	0.572													147	222					0	0	1	0	0	C	5081777	T	C	5081777	2	2	197	1	0	0	0	0	0	0	0	1	10144	1606	56	4		4	NAGPA	16	5081777	Silent	SNP	T	TCGA-HT-7687-01A-11D-2253-08		5081777	85272976	53	8447											
PDP2	57546	broad.mit.edu	37	chr16	66919576	66919576	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagaggaaagccagcgggctCcacgaggctgaccaaaatgc	13	3	13	12	2	0	2	0	1	0	1	1	4	1	3	3	3	3	2	3	3	3	0			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr16:66919576C>T	uc021tjw.1	+	0	1389	c.1389C>T	c.(1387-1389)ctC>ctT	p.L463L	PDP2_uc002eqk.2_Silent_p.L463L	NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 2 (PDP2), mRNA.	463					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		CCAGCGGGCTCCACGAGGCTG	0.617													9	10					0	0	1	0	0	T	66919576	C	T	66919576	2	4	197	1	0	0	0	0	0	0	0	1	11686	842	30	3		3	PDP2	16	66919576	Silent	SNP	C	TCGA-HT-7687-01A-11D-2253-08	61837799	66919576	23435177	54	8448											
PKD1L2	114780	broad.mit.edu	37	chr16	81161555	81161555	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccagggaatatggtgcacGgcatccgttgagatatgcct	10	10	12	9	2	0	1	0	1	0	1	2	3	2	2	3	3	2	3	3	3	3	3			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr16:81161555G>T	uc002fgh.1	-	36	6157	c.6157C>A	c.(6157-6159)Cgt>Agt	p.R2053S	PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	2054					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TATGGTGCACGGCATCCGTTG	0.567													3	44					0.00909568	0.0093024	1	1	0	T	81161555	G	T	81161555	3	4	197	1	0	0	0	0	1	0	0	0	11965	1116	39	5	1250	5	PKD1L2	16	81161555	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08	14241979	81161555	9193198	55	8449											
MINK1	50488	broad.mit.edu	37	chr17	4797498	4797498	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagcggaacctgctgcaTgctgacagcaatgggtacac	11	6	14	10	1	0	1	0	1	0	0	0	4	0	3	1	3	7	5	1	3	3	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr17:4797498T>C	uc010vsl.2	+	22	2944	c.2700T>C	c.(2698-2700)caT>caC	p.H900H	MINK1_uc010vsk.2_Silent_p.H871H|MINK1_uc010vsm.2_Silent_p.H880H|MINK1_uc010vsn.2_Silent_p.H863H|MINK1_uc010vso.2_Silent_p.H808H|MINK1_uc010vsp.2_Silent_p.H361H	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	Homo sapiens misshapen-like kinase 1 (MINK1), transcript variant 3, mRNA.	900	Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ACCTGCTGCATGCTGACAGCA	0.622													40	99					0	0	1	0	0	C	4797498	T	C	4797498	2	2	197	1	0	0	0	0	0	0	0	1	9587	1461	51	3		3	MINK1	17	4797498	Silent	SNP	T	TCGA-HT-7687-01A-11D-2253-08		4797498	76397712	56	8450											
DDX5	1655	broad.mit.edu	37	chr17	62500099	62500102	+	Splice_Site	DEL	ACAG	ACAG	-																															tcaagagttctcccaaacttAcagacaatgttttcccagat																										TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr17:62500099_62500102delACAG	uc010deh.2	-	4	484	c.441_splice	c.e4+1	p.S147_splice	DDX5_uc002jek.2_Splice_Site_p.S147_splice|DDX5_uc002jej.2_Splice_Site_p.S42_splice|DDX5_uc010wqa.1_Intron|MIR5047_uc021ubs.1_5'Flank|DDX5_uc002jel.1_5'Flank	NM_004396	NP_004387	P17844	DDX5_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.	147	Helicase ATP-binding.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|mRNA binding|protein binding|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCCCAAACTTACAGACAATGTTTT	0.397			T	ETV4	prostate								118	248	---	---	---	---						-	62500102	ACAG	-	62500099	8	5	197	1	0	1	0	1	0	0	1	0	4367	405	14	0	1441	0	DDX5	17	62500099	Splice_Site	DEL	ACAG	TCGA-HT-7687-01A-11D-2253-08	57702601	62500099	18695111	57	8451											
MYOM1	8736	broad.mit.edu	37	chr18	3135615	3135615	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcctgcagaattagaacaGcggacacggaaacagtagga	16	5	11	9	2	0	2	0	0	0	2	1	5	1	5	1	3	4	2	1	3	5	2			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr18:3135615G>A	uc002klp.3	-	14	2473	c.2139C>T	c.(2137-2139)cgC>cgT	p.R713R	MYOM1_uc002klq.3_Silent_p.R713R	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	713	Fibronectin type-III 2.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AATTAGAACAGCGGACACGGA	0.512													3	52					0	0	1	0	0	A	3135615	G	A	3135615	2	1	197	1	0	0	0	0	0	0	0	1	10091	958	34	3		3	MYOM1	18	3135615	Silent	SNP	G	TCGA-HT-7687-01A-11D-2253-08		3135615	74941633	58	8452											
AQP4	361	broad.mit.edu	37	chr18	24442317	24442317	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagggttgatgtggccaccGctgatatggccaaagcactg	9	8	14	10	1	0	2	0	2	0	0	0	2	0	2	3	3	1	4	3	3	2	2			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr18:24442317G>A	uc002kwa.3	-	1	339	c.276C>T	c.(274-276)agC>agT	p.S92S	CHST9-AS1_uc002kwb.2_5'Flank|CHST9-AS1_uc010xbm.2_5'Flank|AQP4_uc002kvz.3_Silent_p.S70S	NM_001650	NP_001641	P55087	AQP4_HUMAN	Homo sapiens aquaporin 4 (AQP4), transcript variant a, mRNA.	92					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					TGTGGCCACCGCTGATATGGC	0.557													5	130					0	0	1	0	0	A	24442317	G	A	24442317	2	1	197	1	0	0	0	0	0	0	0	1	828	1078	38	1		1	AQP4	18	24442317	Silent	SNP	G	TCGA-HT-7687-01A-11D-2253-08	21306702	24442317	53634931	59	8453											
FAM59A	64762	broad.mit.edu	37	chr18	29848207	29848207	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacccagacttggggtctTcctcagcaccatcaattttc	8	12	8	13	0	3	2	2	1	1	1	5	2	4	2	3	2	1	1	3	2	1	4			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr18:29848207T>C	uc002kxl.3	-	5	2314	c.2258A>G	c.(2257-2259)gAa>gGa	p.E753G	FAM59A_uc002kxk.2_Missense_Mutation_p.E752G	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	753										endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						CTTGGGGTCTTCCTCAGCACC	0.522													38	48					0	0	1	0	0	C	29848207	T	C	29848207	3	2	197	1	0	0	0	0	1	0	0	0	5592	1783	62	3	376	3	FAM59A	18	29848207	Missense_Mutation	SNP	T	TCGA-HT-7687-01A-11D-2253-08	5405890	29848207	48229041	60	8454											
TNFSF14	8740	broad.mit.edu	37	chr19	6670062	6670062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccacaaacactgagggccGtacgacactctcctccatgc	11	6	7	17	2	1	1	0	1	1	0	3	2	2	1	4	1	3	1	4	1	2	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr19:6670062G>A	uc002mfk.2	-	1	401	c.19C>T	c.(19-21)Cgg>Tgg	p.R7W	TNFSF14_uc002mfj.2_Missense_Mutation_p.R7W	NM_003807	NP_003798	O43557	TNF14_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.	7					T cell homeostasis|T cell proliferation|cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						ACTGAGGGCCGTACGACACTC	0.602													4	89					0	0	1	0	0	A	6670062	G	A	6670062	3	1	197	1	0	0	0	0	1	0	0	0	16304	1144	40	1	719	1	TNFSF14	19	6670062	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08		6670062	52458921	61	8455											
LRRC4B	94030	broad.mit.edu	37	chr19	51022537	51022537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtgggcaccgtggtcagccGgttgtcaaaaagctccagcg	8	7	14	12	4	2	0	2	0	0	0	3	0	3	0	3	3	3	3	3	3	2	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr19:51022537G>A	uc002pss.3	-	2	570	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W		NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	145						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GTGGTCAGCCGGTTGTCAAAA	0.622													46	25					0	0	1	0	0	A	51022537	G	A	51022537	3	1	197	1	0	0	0	0	1	0	0	0	9007	1115	39	2	1712	2	LRRC4B	19	51022537	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08	44352475	51022537	8106446	62	8456											
DEFB119	245932	broad.mit.edu	37	chr20	29976970	29976970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accgtttacgatttcggcagCgtatgatgctgtcttcacca	8	13	9	11	4	2	1	1	1	1	0	3	2	2	1	2	1	3	4	2	1	2	5			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr20:29976970C>T	uc002wvu.1	-	1	245	c.125G>A	c.(124-126)cGc>cAc	p.R42H	DEFB119_uc002wvs.3_Intron|DEFB119_uc002wvt.3_Intron	NM_153323	NP_697018	Q8N690	DB119_HUMAN	Homo sapiens defensin, beta 119 (DEFB119), transcript variant 3, mRNA.	48					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			ATTTCGGCAGCGTATGATGCT	0.453													13	177					0	0	1	0	0	T	29976970	C	T	29976970	3	4	197	1	0	0	0	0	1	0	0	0	4407	768	27	1	387	1	DEFB119	20	29976970	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08		29976970	33048550	63	8457											
FAM83D	81610	broad.mit.edu	37	chr20	37580213	37580213	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatggcaaattaaacagcAgtaacttggtaattctgtct	13	12	9	7	1	2	0	0	0	2	0	2	1	2	1	0	3	3	4	0	3	5	5			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr20:37580213A>C	uc002xjg.3	+	3	939	c.898A>C	c.(898-900)Agt>Cgt	p.S300R		NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	Homo sapiens family with sequence similarity 83, member D (FAM83D), mRNA.	270					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				ATTAAACAGCAGTAACTTGGT	0.428													4	75					0	0	1	0	0	C	37580213	A	C	37580213	3	2	197	1	0	0	0	0	1	0	0	0	5636	188	7	5	912	5	FAM83D	20	37580213	Missense_Mutation	SNP	A	TCGA-HT-7687-01A-11D-2253-08	7603243	37580213	25445307	64	8458											
CSTF1	1477	broad.mit.edu	37	chr20	54974333	54974333	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattttttccaaaaattctaAatacattctctcaagtggaa	15	15	3	8	0	3	0	1	0	2	0	5	1	4	1	1	1	1	0	1	1	7	7			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr20:54974333A>G	uc002xxl.1	+	4	1156	c.956A>G	c.(955-957)aAa>aGa	p.K319R	CSTF1_uc002xxm.1_Missense_Mutation_p.K319R|CSTF1_uc002xxn.1_Missense_Mutation_p.K319R	NM_001033521	NP_001315	Q05048	CSTF1_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa (CSTF1), transcript variant 1, mRNA.	319					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|protein binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			AAAAATTCTAAATACATTCTC	0.388													6	84					0	0	1	0	0	G	54974333	A	G	54974333	3	3	197	1	0	0	0	0	1	0	0	0	3983	14	1	3	970	3	CSTF1	20	54974333	Missense_Mutation	SNP	A	TCGA-HT-7687-01A-11D-2253-08	17394120	54974333	8051187	65	8459											
TIAM1	7074	broad.mit.edu	37	chr21	32589897	32589897	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcttggccgtccctgcttcTttttggaggtagtatccaga	5	15	11	10	1	1	1	0	0	1	1	3	2	3	2	3	3	2	4	3	3	2	6			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr21:32589897T>C	uc002yow.1	-	9	2586	c.2114A>G	c.(2113-2115)aAg>aGg	p.K705R	TIAM1_uc011adk.1_Missense_Mutation_p.K705R|TIAM1_uc011adl.1_Missense_Mutation_p.K705R|TIAM1_uc002yox.1_Missense_Mutation_p.K313R	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	705					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCCCTGCTTCTTTTTGGAGGT	0.522													84	91					0	0	1	0	0	C	32589897	T	C	32589897	3	2	197	1	0	0	0	0	1	0	0	0	15887	1609	56	4	2741	4	TIAM1	21	32589897	Missense_Mutation	SNP	T	TCGA-HT-7687-01A-11D-2253-08		32589897	15539998	66	8460											
KRTAP10-8	386681	broad.mit.edu	37	chr21	46032410	46032410	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtccaactgctgcaagccCgtgtgctgcgtgtccatctg	7	10	11	13	2	1	0	0	0	1	0	3	0	3	0	3	0	6	3	3	0	3	0			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr21:46032410C>T	uc002zfo.1	+	0	415	c.393C>T	c.(391-393)ccC>ccT	p.P131P	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198695	NP_941968	P60410	KR108_HUMAN	Homo sapiens keratin associated protein 10-8 (KRTAP10-8), mRNA.	131	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						GCTGCAAGCCCGTGTGCTGCG	0.632													6	272					0	0	1	0	0	T	46032410	C	T	46032410	2	4	197	1	0	0	0	0	0	0	0	1	8515	639	23	2		2	KRTAP10-8	21	46032410	Silent	SNP	C	TCGA-HT-7687-01A-11D-2253-08	13442513	46032410	2097485	67	8461											
CDKL5	6792	broad.mit.edu	37	chrX	18646678	18646678	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catccggcaggaacccgcacCgaagggcaggccagccctcc	9	2	12	18	3	0	0	0	0	0	0	2	2	2	1	6	4	2	3	6	4	2	0			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chrX:18646678C>A	uc004cym.3	+	17	2937	c.2684C>A	c.(2683-2685)cCg>cAg	p.P895Q	CDKL5_uc004cyn.3_Missense_Mutation_p.P895Q|CDKL5_uc022btn.1_Missense_Mutation_p.P886Q	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	895					neuron migration|positive regulation of Rac GTPase activity|positive regulation of axon extension|positive regulation of dendrite morphogenesis|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|Rac GTPase binding|cyclin-dependent protein kinase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GAACCCGCACCGAAGGGCAGG	0.577													3	64					1	1	1	1	0	A	18646678	C	A	18646678	3	1	197	1	0	0	0	0	1	0	0	0	3157	652	23	5	2750	5	CDKL5	23	18646678	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08		18646678	136623882	68	8462											
IL13RA1	3597	broad.mit.edu	37	chrX	117900529	117900529	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagaatccagaatttgagAgaaatgtggaggtcagtaaa	16	9	13	3	0	1	4	1	2	0	3	2	7	2	5	1	2	0	1	1	2	5	2			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chrX:117900529A>G	uc004eqs.3	+	6	908	c.865A>G	c.(865-867)Aga>Gga	p.R289G		NM_001560	NP_001551	P78552	I13R1_HUMAN	Homo sapiens interleukin 13 receptor, alpha 1 (IL13RA1), mRNA.	289						interleukin-13 receptor complex	cytokine receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						AGAATTTGAGAGAAATGTGGA	0.338													5	55					0	0	1	0	0	G	117900529	A	G	117900529	3	3	197	1	0	0	0	0	1	0	0	0	7629	296	11	4	891	4	IL13RA1	23	117900529	Missense_Mutation	SNP	A	TCGA-HT-7687-01A-11D-2253-08	99253851	117900529	37370031	69	8463											
PRAMEF11	440560	broad.mit.edu	37	chr1	12885051	12885051	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcagcaggttctccagggTggccatgcagatgggatttc	7	10	14	10	0	2	1	1	0	1	1	4	2	2	2	2	4	2	4	2	4	0	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:12885051T>C	uc001auk.2	-	3	1256	c.1060A>G	c.(1060-1062)Acc>Gcc	p.T354A		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	354										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TTCTCCAGGGTGGCCATGCAG	0.532													12	163					0	0	1	0	0	C	12885051	T	C	12885051	3	2	198	1	0	0	0	0	1	0	0	0	12427	1696	59	3	254	3	PRAMEF11	1	12885051	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08		12885051	236365570	1	8464											
TAS1R2	80834	broad.mit.edu	37	chr1	19181078	19181078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggaggcgatccacacggCgccagtgaagttctggcgca	8	6	14	13	5	1	1	0	1	1	0	3	3	2	2	2	4	0	2	2	4	1	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:19181078C>T	uc001bba.1	-	2	887	c.886G>A	c.(886-888)Gcc>Acc	p.A296T		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	296					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	p.G295G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	ATCCACACGGCGCCAGTGAAG	0.637													11	43					0	0	1	0	0	T	19181078	C	T	19181078	3	4	198	1	0	0	0	0	1	0	0	0	15560	768	27	1	1649	1	TAS1R2	1	19181078	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	6296027	19181078	230069543	2	8465											
ARID1A	8289	broad.mit.edu	37	chr1	27100176	27100176	+	Frame_Shift_Del	DEL	C	C	-																															atgtattctcctagccgctaCcccccgcagcagcagcagca																										TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:27100176delC	uc001bmv.1	+	15	4345	c.3972delC	c.(3970-3972)tacfs	p.Y1324fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.Y1323fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.Y1324fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.Y941fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.Y170fs|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1324					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.Y1324*(2)|p.Y1324fs*1(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTAGCCGCTACCCCCCgcagc	0.597			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								23	131	---	---	---	---						-	27100176	C	-	27100176	7	5	198	1	0	1	0	1	0	0	0	0	913	518	18	0	4034	0	ARID1A	1	27100176	Frame_Shift_Del	DEL	C	TCGA-HT-7688-01A-11D-2253-08	7919098	27100176	222150445	3	8466											
SNRNP40	9410	broad.mit.edu	37	chr1	31744294	31744294	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcaggccagtcactgaaTctgcatggcctctcatggtg	9	10	10	12	0	4	1	3	1	2	0	5	1	4	1	2	3	2	1	2	3	2	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:31744294T>C	uc010oge.2	-	5	753	c.707A>G	c.(706-708)gAt>gGt	p.D236G	SNRNP40_uc009vtt.3_5'Flank|SNRNP40_uc001bso.3_Missense_Mutation_p.D236G	NM_004814	NP_004805	Q96DI7	SNR40_HUMAN	Homo sapiens small nuclear ribonucleoprotein 40kDa (U5) (SNRNP40), mRNA.	236						U5 snRNP|catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						AGTCACTGAATCTGCATGGCC	0.448													7	51					0	0	1	0	0	C	31744294	T	C	31744294	3	2	198	1	0	0	0	0	1	0	0	0	14856	1435	50	3	386	3	SNRNP40	1	31744294	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	4644118	31744294	217506327	4	8467											
RLF	6018	broad.mit.edu	37	chr1	40702367	40702367	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaattagaagattgccacCtgcaagacagagatttgtat	15	10	9	7	0	0	4	0	0	0	4	0	5	0	4	2	0	2	3	2	0	5	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:40702367C>G	uc001cfc.4	+	7	2024	c.1993C>G	c.(1993-1995)Ctg>Gtg	p.L665V	RLF_uc001cfd.4_Missense_Mutation_p.L356V	NM_012421	NP_036553	Q13129	RLF_HUMAN	Homo sapiens rearranged L-myc fusion (RLF), mRNA.	665					DNA integration|DNA mediated transformation|chromosome organization|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AGATTGCCACCTGCAAGACAG	0.418													39	88					0	0	1	0	0	G	40702367	C	G	40702367	3	3	198	1	0	0	0	0	1	0	0	0	13389	680	24	5	2023	5	RLF	1	40702367	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	8958073	40702367	208548254	5	8468											
CYP4Z1	199974	broad.mit.edu	37	chr1	47533183	47533183	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggagccctcctggcttcaGgaactcatggctcacccctt	7	10	9	15	0	3	0	3	0	0	0	4	2	4	2	4	4	2	2	4	4	1	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:47533183G>C	uc001cqu.1	+	0	24	c.21G>C	c.(19-21)caG>caC	p.Q7H		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	7						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CCTGGCTTCAGGAACTCATGG	0.522													11	16					0	0	1	0	0	C	47533183	G	C	47533183	3	2	198	1	0	0	0	0	1	0	0	0	4194	991	35	5	23	5	CYP4Z1	1	47533183	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	6830816	47533183	201717438	6	8469											
AGL	178	broad.mit.edu	37	chr1	100353559	100353559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctccagattaactttggctGagctaaatcagatcctttac	11	13	6	11	0	1	3	1	1	0	2	3	3	3	3	3	1	3	2	3	1	4	5			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:100353559G>A	uc001dsi.1	+	20	3107	c.2707G>A	c.(2707-2709)Gag>Aag	p.E903K	AGL_uc001dsj.1_Missense_Mutation_p.E903K|AGL_uc001dsk.1_Missense_Mutation_p.E903K|AGL_uc001dsl.1_Missense_Mutation_p.E903K|AGL_uc001dsm.1_Missense_Mutation_p.E887K|AGL_uc001dsn.1_Missense_Mutation_p.E886K	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	903					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AACTTTGGCTGAGCTAAATCA	0.373													5	44					0	0	1	0	0	A	100353559	G	A	100353559	3	1	198	1	0	0	0	0	1	0	0	0	384	1291	45	3	2854	3	AGL	1	100353559	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	52820376	100353559	148897062	7	8470											
SYCP1	6847	broad.mit.edu	37	chr1	115487052	115487052	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaattgaggacaaaaagatAtcagaagaaaatcttttgga	20	9	9	3	0	2	4	1	1	1	3	2	7	2	6	0	2	0	0	0	2	7	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:115487052A>G	uc001efr.3	+	23	2228	c.2019A>G	c.(2017-2019)atA>atG	p.I673M	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.I673M|SYCP1_uc009wgw.3_Missense_Mutation_p.I673M	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	673					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAAAAAGATATCAGAAGAAA	0.279													4	23					0	0	1	0	0	G	115487052	A	G	115487052	3	3	198	1	0	0	0	0	1	0	0	0	15428	439	16	3	2109	3	SYCP1	1	115487052	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	15133493	115487052	133763569	8	8471											
HIST2H2AB	317772	broad.mit.edu	37	chr1	149859423	149859423	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcgggacgagcgcgacttgGccttagcgcgggccttgcct	4	7	16	14	7	0	0	0	0	0	0	0	3	0	1	3	3	3	0	3	3	1	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:149859423G>C	uc001ete.3	-	0	44	c.44C>G	c.(43-45)gCc>gGc	p.A15G	HIST2H2BE_uc001etc.3_5'Flank	NM_175065	NP_778235	Q8IUE6	H2A2B_HUMAN	Homo sapiens histone cluster 2, H2ab (HIST2H2AB), mRNA.	15					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCGCGACTTGGCCTTAGCGCG	0.602													4	164					0	0	1	0	0	C	149859423	G	C	149859423	3	2	198	1	0	0	0	0	1	0	0	0	7177	1203	42	5	352	5	HIST2H2AB	1	149859423	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	34372371	149859423	99391198	9	8472											
FLG2	388698	broad.mit.edu	37	chr1	152323513	152323513	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactgtggccagatccccttCttccagttgtcctggaccct	5	12	8	16	0	1	1	0	0	1	1	4	2	4	2	6	2	0	1	6	2	0	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:152323513C>G	uc001ezw.4	-	2	6822	c.6749G>C	c.(6748-6750)aGa>aCa	p.R2250T	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	2250							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGATCCCCTTCTTCCAGTTGT	0.522													14	638					0	0	1	0	0	G	152323513	C	G	152323513	3	3	198	1	0	0	0	0	1	0	0	0	5923	913	32	5	430	5	FLG2	1	152323513	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	2464090	152323513	96927108	10	8473											
SPRR2F	6705	broad.mit.edu	37	chr1	153085129	153085129	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggcacttcgggggtggAcatggctctgggcactttgg	5	10	17	9	1	2	0	1	0	1	0	3	1	2	1	0	7	0	3	0	7	0	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:153085129A>G	uc001fbi.3	-	1	140	c.81T>C	c.(79-81)tgT>tgC	p.C27C	SPRR2A_uc001fbf.3_Intron|SPRR2F_uc021ozt.1_Silent_p.C27C	NM_001014450	NP_001014450	Q96RM1	SPR2F_HUMAN	Homo sapiens small proline-rich protein 2F (SPRR2F), mRNA.	27	3 X 9 AA tandem repeats of [PS]-K-C-P- [EQ]-[PS]-C-P-P.				keratinization	cornified envelope|cytoplasm				large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCGGGGGTGGACATGGCTCTG	0.607													6	333					0	0	1	0	0	G	153085129	A	G	153085129	2	3	198	1	0	0	0	0	0	0	0	1	15100	273	10	3		3	SPRR2F	1	153085129	Silent	SNP	A	TCGA-HT-7688-01A-11D-2253-08	761616	153085129	96165492	11	8474											
CD1B	910	broad.mit.edu	37	chr1	158299224	158299224	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgacaggacaggccagcCgcctccccatctgccacatc	9	4	8	20	2	1	0	0	0	1	0	3	2	2	1	7	2	2	0	7	2	0	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:158299224C>T	uc001frx.3	-	3	930	c.822G>A	c.(820-822)gcG>gcA	p.A274A	CD1B_uc001frw.3_Intron	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	274	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ACAGGCCAGCCGCCTCCCCAT	0.582													5	214					0	0	1	0	0	T	158299224	C	T	158299224	2	4	198	1	0	0	0	0	0	0	0	1	2975	639	23	2		2	CD1B	1	158299224	Silent	SNP	C	TCGA-HT-7688-01A-11D-2253-08	5214095	158299224	90951397	12	8475											
CD1E	913	broad.mit.edu	37	chr1	158325321	158325321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgccctcgatttctagcggGgctcatggaagcaggggagt	7	9	15	10	2	2	0	1	0	1	0	3	3	2	2	1	5	3	2	1	5	2	2	rs142840776		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:158325321G>A	uc001fse.3	+	2	880	c.587G>A	c.(586-588)gGg>gAg	p.G196E	CD1E_uc010pid.2_Missense_Mutation_p.G194E|CD1E_uc010pie.2_Missense_Mutation_p.G97E|CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Missense_Mutation_p.G196E|CD1E_uc001fsf.3_Missense_Mutation_p.G196E|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Missense_Mutation_p.G97E|CD1E_uc001fsj.3_Intron|CD1E_uc001fsk.3_Intron|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Missense_Mutation_p.G196E|CD1E_uc001frz.3_Intron|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Intron|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	196	Ig-like.				antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen		p.G196E(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TTTCTAGCGGGGCTCATGGAA	0.473													4	38					0	0	1	0	0	A	158325321	G	A	158325321	3	1	198	1	0	0	0	0	1	0	0	0	2978	1232	43	3	597	3	CD1E	1	158325321	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	26097	158325321	90925300	13	8476											
SCYL3	57147	broad.mit.edu	37	chr1	169823532	169823532	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaagcagcagaaggcttaAtttctgggatcatatcagca	15	9	10	7	0	3	1	2	0	1	1	3	3	3	2	0	2	3	4	0	2	5	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:169823532A>G	uc001ggs.2	-	12	2246	c.2048T>C	c.(2047-2049)aTt>aCt	p.I683T	SCYL3_uc010plw.1_Missense_Mutation_p.I275T|SCYL3_uc001ggt.2_Missense_Mutation_p.I629T	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	Homo sapiens SCY1-like 3 (S. cerevisiae) (SCYL3), transcript variant 2, mRNA.	683	Interaction with EZR.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGAAGGCTTAATTTCTGGGAT	0.393													6	109					0	0	1	0	0	G	169823532	A	G	169823532	3	3	198	1	0	0	0	0	1	0	0	0	13949	101	4	3	188	3	SCYL3	1	169823532	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	11498211	169823532	79427089	14	8477											
C1orf129	80133	broad.mit.edu	37	chr1	170928725	170928725	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggggagcagttatgagtacaTtgaggacatggaggtaaaat	14	9	15	3	0	0	2	0	2	0	0	0	5	0	5	0	5	2	4	0	5	4	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:170928725T>C	uc010plz.2	+	4	429	c.275T>C	c.(274-276)aTt>aCt	p.I92T	C1orf129_uc001ghg.3_Missense_Mutation_p.I92T|C1orf129_uc009wvy.3_5'UTR	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	92							binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TATGAGTACATTGAGGACATG	0.363													6	43					0	0	1	0	0	C	170928725	T	C	170928725	3	2	198	1	0	0	0	0	1	0	0	0	1996	1493	52	3	289	3	C1orf129	1	170928725	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	1105193	170928725	78321896	15	8478											
OR2M7	391196	broad.mit.edu	37	chr1	248486965	248486965	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccctttcctaagattttCattaatgctctggtcacttc	7	18	5	11	0	3	1	2	0	1	1	5	1	4	1	2	1	2	1	2	1	2	7			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:248486965C>A	uc010pzk.2	-	0	906	c.906G>T	c.(904-906)atG>atT	p.M302I		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M302I(2)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTAAGATTTTCATTAATGCTC	0.403													6	52					0.000274275	0.000279323	1	1	0	A	248486965	C	A	248486965	3	1	198	1	0	0	0	0	1	0	0	0	11014	826	29	5	35	5	OR2M7	1	248486965	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	77558240	248486965	763656	16	8479											
CAD	790	broad.mit.edu	37	chr2	27462334	27462334	+	Frame_Shift_Del	DEL	G	G	-																															gggaggttgcctatatcgatGggcaggtacgcaagtagccc																										TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:27462334delG	uc002rji.3	+	32	5551	c.5389delG	c.(5389-5391)gggfs	p.G1797fs	CAD_uc010eyw.3_Frame_Shift_Del_p.G1734fs	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	1797	Linker.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CTATATCGATGGGCAGGTACG	0.567													25	69	---	---	---	---						-	27462334	G	-	27462334	7	5	198	1	0	1	0	1	0	0	0	0	2565	1348	47	0	5519	0	CAD	2	27462334	Frame_Shift_Del	DEL	G	TCGA-HT-7688-01A-11D-2253-08		27462334	215737039	17	8480											
ANTXR1	84168	broad.mit.edu	37	chr2	69297779	69297779	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtgtctttggatttcagAgaacaaatccgtcaaggcct	12	11	10	8	1	3	2	2	0	1	2	4	4	4	3	2	2	1	0	2	2	3	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:69297779A>G	uc002sfg.3	+	4	653	c.297_splice	c.e4-1	p.R99_splice	ANTXR1_uc002sfe.3_Splice_Site_p.R99_splice|ANTXR1_uc002sff.3_Splice_Site_p.R99_splice|ANTXR1_uc002sfd.2_Splice_Site_p.R99_splice	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA.	99	VWFA.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TGGATTTCAGAGAACAAATCC	0.378									Familial Infantile Hemangioma				3	63					0	0	1	0	0	G	69297779	A	G	69297779	5	3	198	1	0	0	0	0	0	0	1	0	711	318	11	4	311	4	ANTXR1	2	69297779	Splice_Site	SNP	A	TCGA-HT-7688-01A-11D-2253-08	41835445	69297779	173901594	18	8481											
MXD1	4084	broad.mit.edu	37	chr2	70164431	70164431	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcagcgagagcagcgacAcctgaagaggcagctggaga	12	4	15	10	2	1	4	1	1	0	3	1	7	1	4	1	2	4	4	1	2	1	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:70164431A>T	uc002sfy.3	+	4	673	c.383A>T	c.(382-384)cAc>cTc	p.H128L	MXD1_uc010yqp.2_Missense_Mutation_p.H128L|MXD1_uc010yqs.2_Missense_Mutation_p.H118L|MXD1_uc010yqq.2_Missense_Mutation_p.H65L|MXD1_uc010yqr.2_Non-coding_Transcript|MXD1_uc021vix.1_5'Flank	NM_002357	NP_002348	Q05195	MAD1_HUMAN	Homo sapiens MAX dimerization protein 1 (MXD1), transcript variant 1, mRNA.	128					cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						GAGCAGCGACACCTGAAGAGG	0.577													5	113					0	0	1	0	0	T	70164431	A	T	70164431	3	4	198	1	0	0	0	0	1	0	0	0	9999	159	6	5	401	5	MXD1	2	70164431	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	866652	70164431	173034942	19	8482											
EIF2AK3	9451	broad.mit.edu	37	chr2	88913303	88913303	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacatccaaatcccactgcTttttaccatgattttcagga	11	13	4	13	0	1	1	1	1	0	0	3	2	3	2	4	1	2	1	4	1	2	5			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:88913303T>C	uc002stc.4	-	1	679	c.377A>G	c.(376-378)aAg>aGg	p.K126R		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	126					ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						ATCCCACTGCTTTTTACCATG	0.353													10	95					0	0	1	0	0	C	88913303	T	C	88913303	3	2	198	1	0	0	0	0	1	0	0	0	4998	1609	56	4	3037	4	EIF2AK3	2	88913303	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	18748872	88913303	154286070	20	8483											
PTPN4	5775	broad.mit.edu	37	chr2	120709680	120709680	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgagagacattctggggaActcatgcttctagttcgacc	9	12	11	9	1	3	2	1	1	2	1	4	5	3	3	1	2	2	2	1	2	2	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:120709680A>G	uc002tmf.1	+	18	2559	c.1788A>G	c.(1786-1788)gaA>gaG	p.E596E	PTPN4_uc010flj.1_Silent_p.E309E|PTPN4_uc010yyr.1_Silent_p.E229E	NM_002830	NP_002821	P29074	PTN4_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte) (PTPN4), mRNA.	596						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ATTCTGGGGAACTCATGCTTC	0.403													6	99					0	0	1	0	0	G	120709680	A	G	120709680	2	3	198	1	0	0	0	0	0	0	0	1	12790	40	2	3		3	PTPN4	2	120709680	Silent	SNP	A	TCGA-HT-7688-01A-11D-2253-08	31796377	120709680	122489693	21	8484											
TTN	7273	broad.mit.edu	37	chr2	179431332	179431332	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgccatcatagatgggtttAccccaggcaagtgtgattga	10	10	11	10	1	1	3	1	2	0	1	1	3	1	3	4	2	1	2	4	2	3	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:179431332A>G	uc021vsy.1	-	274	72048	c.71823T>C	c.(71821-71823)ggT>ggC	p.G23941G	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.G17636G|TTN_uc021vta.1_Silent_p.G17569G|TTN_uc021vtb.1_Silent_p.G17444G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24868	Ig-like 120.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGATGGGTTTACCCCAGGCAA	0.433													4	191					0	0	1	0	0	G	179431332	A	G	179431332	2	3	198	1	0	0	0	0	0	0	0	1	16732	378	14	3		3	TTN	2	179431332	Silent	SNP	A	TCGA-HT-7688-01A-11D-2253-08	58721652	179431332	63768041	22	8485											
TTN	7273	broad.mit.edu	37	chr2	179463964	179463964	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attcggaatacatattcatgGccttctagcaatttgggaat	12	14	8	7	1	2	0	1	0	1	0	3	2	2	2	1	3	2	1	1	3	6	7			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:179463964G>A	uc021vsy.1	-	238	49077	c.48852C>T	c.(48850-48852)ggC>ggT	p.G16284G	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.G9979G|TTN_uc021vta.1_Silent_p.G9912G|TTN_uc021vtb.1_Silent_p.G9787G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17211	Fibronectin type-III 18.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATATTCATGGCCTTCTAGCA	0.428													26	118					0	0	1	0	0	A	179463964	G	A	179463964	2	1	198	1	0	0	0	0	0	0	0	1	16732	1190	42	3		3	TTN	2	179463964	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	32632	179463964	63735409	23	8486											
TMEFF2	23671	broad.mit.edu	37	chr2	192818453	192818453	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgacagcaatctgaattgttCcaatcacagctgcgattaag	13	11	8	9	1	2	2	1	2	1	0	3	3	3	2	1	0	3	3	1	0	4	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:192818453C>G	uc002utc.3	-	8	1374	c.980G>C	c.(979-981)gGa>gCa	p.G327A		NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	Homo sapiens transmembrane protein with EGF-like and two follistatin-like domains 2 (TMEFF2), mRNA.	327						extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			CTGAATTGTTCCAATCACAGC	0.428													3	66					0	0	1	0	0	G	192818453	C	G	192818453	3	3	198	1	0	0	0	0	1	0	0	0	16011	855	30	5	152	5	TMEFF2	2	192818453	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	13354489	192818453	50380920	24	8487											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								23	52					0	0	1	0	0	T	209113112	C	T	209113112	3	4	198	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	16294659	209113112	34086261	25	8488											
BTD	686	broad.mit.edu	37	chr3	15686764	15686764	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggtgtgggggtcttggCttcgacacctgtggacagga	6	10	17	8	1	2	0	1	0	1	0	3	3	2	2	1	6	0	1	1	6	0	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr3:15686764C>A	uc011avv.2	+	3	1495	c.1407C>A	c.(1405-1407)ggC>ggA	p.G469G	BTD_uc003cah.3_Silent_p.G467G|BTD_uc011avw.2_Silent_p.G469G|BTD_uc011avx.2_Silent_p.G447G	NM_000060	NP_000051	P43251	BTD_HUMAN	Homo sapiens biotinidase (BTD), mRNA.	467					central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						GGGGTCTTGGCTTCGACACCT	0.507													4	121					0.00909568	0.0092066	1	1	0	A	15686764	C	A	15686764	2	1	198	1	0	0	0	0	0	0	0	1	1550	784	28	5		5	BTD	3	15686764	Silent	SNP	C	TCGA-HT-7688-01A-11D-2253-08		15686764	182335666	26	8489											
NEK4	6787	broad.mit.edu	37	chr3	52802575	52802575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgttcagcagctcgccGctctcggctagaggcatttc	5	12	10	14	3	2	1	1	0	1	1	6	1	3	1	2	2	2	6	2	2	1	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr3:52802575G>A	uc003dfq.4	-	1	342	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W	NEK4_uc011bej.2_Intron|NEK4_uc003dfr.3_Missense_Mutation_p.R47W	NM_003157	NP_003148	P51957	NEK4_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 4 (NEK4), transcript variant 1, mRNA.	47	Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.E46*(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		GCAGCTCGCCGCTCTCGGCTA	0.453													5	106					0	0	1	0	0	A	52802575	G	A	52802575	3	1	198	1	0	0	0	0	1	0	0	0	10326	1086	38	1	2446	1	NEK4	3	52802575	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	37115811	52802575	145219855	27	8490											
PLXNA1	5361	broad.mit.edu	37	chr3	126748802	126748802	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctggagagcggcaccaaGctgtggcacctggtgaagaa	11	5	15	10	1	0	3	0	1	0	2	0	5	0	3	3	4	2	3	3	4	3	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr3:126748802G>C	uc003ejg.3	+	26	4956	c.4956G>C	c.(4954-4956)aaG>aaC	p.K1652N	PLXNA1_uc003ejh.3_Missense_Mutation_p.K297N	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	1652					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GCGGCACCAAGCTGTGGCACC	0.657													3	110					0	0	1	0	0	C	126748802	G	C	126748802	3	2	198	1	0	0	0	0	1	0	0	0	12119	962	34	5	5062	5	PLXNA1	3	126748802	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	73946227	126748802	71273628	28	8491											
TMCC1	23023	broad.mit.edu	37	chr3	129547187	129547187	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgcctccaggatcagggTcctcaaataactgttcactg	10	12	8	11	0	3	0	3	0	0	0	5	1	5	1	3	2	2	1	3	2	2	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr3:129547187T>G	uc021xdy.1	-	2	469	c.35A>C	c.(34-36)gAc>gCc	p.D12A	TMCC1_uc010htg.3_Intron	NM_001017395	NP_001121696	O94876	TMCC1_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 1 (TMCC1), transcript variant 1, mRNA.	12						integral to membrane		p.E11K(1)	PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						AGGATCAGGGTCCTCAAATAA	0.393													5	130					0	0	1	0	0	G	129547187	T	G	129547187	3	3	198	1	0	0	0	0	1	0	0	0	15989	1667	58	5	1942	5	TMCC1	3	129547187	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	2798385	129547187	68475243	29	8492											
PHC3	80012	broad.mit.edu	37	chr3	169815126	169815126	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcaagagaagggcctgTccatcaatctcctgtgctct	9	11	9	12	0	4	1	2	0	2	1	6	2	5	1	3	1	2	2	3	1	3	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr3:169815126T>C	uc003fgl.2	-	14	2914	c.2880A>G	c.(2878-2880)ggA>ggG	p.G960G	PHC3_uc010hws.1_Silent_p.G948G	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.	948	SAM.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAAGGGCCTGTCCATCAATCT	0.448													3	104					0	0	1	0	0	C	169815126	T	C	169815126	2	2	198	1	0	0	0	0	0	0	0	1	11818	1654	58	3		3	PHC3	3	169815126	Silent	SNP	T	TCGA-HT-7688-01A-11D-2253-08	40267939	169815126	28207304	30	8493											
PDE6B	5158	broad.mit.edu	37	chr4	661718	661718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caataggaaagagtggaaggCgctggctgatgagtatgagg	13	7	17	4	1	0	4	0	3	0	1	0	6	0	6	0	5	0	3	0	5	5	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr4:661718C>T	uc003gap.3	+	20	2479	c.2426C>T	c.(2425-2427)gCg>gTg	p.A809V	PDE6B_uc003gao.4_Missense_Mutation_p.A809V|PDE6B_uc011buy.2_Missense_Mutation_p.A530V|PDE6B_uc011buz.2_Missense_Mutation_p.A241V	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	809					GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.K808Q(1)		NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GAGTGGAAGGCGCTGGCTGAT	0.562													4	181					0	0	1	0	0	T	661718	C	T	661718	3	4	198	1	0	0	0	0	1	0	0	0	11646	768	27	1	2508	1	PDE6B	4	661718	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08		661718	190492558	31	8494											
TMEM175	84286	broad.mit.edu	37	chr4	944293	944293	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcatcgtgacagtggcctggGcagcacacacaaggtggggg	9	6	16	10	1	1	1	1	1	0	0	2	1	1	1	1	5	1	2	1	5	1	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr4:944293G>C	uc003gbq.3	+	3	375	c.277G>C	c.(277-279)Gca>Cca	p.A93P	TMEM175_uc010ibl.1_Missense_Mutation_p.A93P|TMEM175_uc003gbp.1_Missense_Mutation_p.A11P|TMEM175_uc003gbs.3_5'UTR|TMEM175_uc003gbt.3_5'UTR|TMEM175_uc003gbr.3_Missense_Mutation_p.A11P	NM_032326	NP_115702	Q9BSA9	TM175_HUMAN	Homo sapiens transmembrane protein 175 (TMEM175), mRNA.	93						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGTGGCCTGGGCAGCACACAC	0.597													10	92					0	0	1	0	0	C	944293	G	C	944293	3	2	198	1	0	0	0	0	1	0	0	0	16088	1203	42	5	287	5	TMEM175	4	944293	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	282575	944293	190209983	32	8495											
CWH43	80157	broad.mit.edu	37	chr4	49000535	49000535	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttccatcttgtttgtggtttCgtggtactggtttgatctgg	3	20	12	6	1	2	1	0	1	2	0	4	1	3	1	1	4	1	4	1	4	1	6			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr4:49000535C>G	uc003gyv.3	+	5	954	c.772C>G	c.(772-774)Cgt>Ggt	p.R258G	CWH43_uc011bzl.2_Missense_Mutation_p.R231G	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	258					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TTTGTGGTTTCGTGGTACTGG	0.443													11	126					0	0	1	0	0	G	49000535	C	G	49000535	3	3	198	1	0	0	0	0	1	0	0	0	4073	884	31	5	794	5	CWH43	4	49000535	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	48056242	49000535	142153741	33	8496											
KDR	3791	broad.mit.edu	37	chr4	55981079	55981079	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acataatagactggtaacttTcatcattaatttttgcttca	13	17	4	7	0	3	1	3	0	0	1	3	1	3	1	0	1	2	2	0	1	4	8			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr4:55981079T>C	uc003has.3	-	4	922	c.620A>G	c.(619-621)gAa>gGa	p.E207G	KDR_uc003hat.1_Missense_Mutation_p.E207G|KDR_uc011bzx.2_Missense_Mutation_p.E207G	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	207	Ig-like C2-type 2.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CTGGTAACTTTCATCATTAAT	0.373			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			3	48					0	0	1	0	0	C	55981079	T	C	55981079	3	2	198	1	0	0	0	0	1	0	0	0	8139	1783	62	3	3554	3	KDR	4	55981079	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	6980544	55981079	135173197	34	8497											
OTUD4	54726	broad.mit.edu	37	chr4	146058891	146058891	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctttgcactctgctatcAacagagttggccccagggct	7	11	11	12	0	3	1	1	0	2	1	3	1	3	1	2	3	3	4	2	3	2	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr4:146058891A>C	uc003ika.4	-	20	2979	c.2841T>G	c.(2839-2841)gtT>gtG	p.V947V		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	1011							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CTCTGCTATCAACAGAGTTGG	0.388													3	122					0	0	1	0	0	C	146058891	A	C	146058891	2	2	198	1	0	0	0	0	0	0	0	1	11314	117	5	5		5	OTUD4	4	146058891	Silent	SNP	A	TCGA-HT-7688-01A-11D-2253-08	90077812	146058891	45095385	35	8498											
DNAH5	1767	broad.mit.edu	37	chr5	13792273	13792273	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattttgtcacagaatctcTcacttcttctgagaaacccc	11	13	4	13	0	5	2	2	1	3	2	6	3	5	2	2	0	1	0	2	0	3	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:13792273T>C	uc003jfd.2	-	49	8320	c.8278A>G	c.(8278-8280)Aga>Gga	p.R2760G		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2760	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACAGAATCTCTCACTTCTTCT	0.423									Kartagener syndrome				3	55					0	0	1	0	0	C	13792273	T	C	13792273	3	2	198	1	0	0	0	0	1	0	0	0	4604	1559	54	4	5716	4	DNAH5	5	13792273	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08		13792273	167122987	36	8499											
PDZD2	23037	broad.mit.edu	37	chr5	32090257	32090257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttctcaagccattttggaCgggagggtcaccccccacac	9	8	10	14	1	2	0	2	0	1	0	3	2	2	2	4	3	1	1	4	3	1	3	rs147353592		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:32090257C>T	uc003jhl.3	+	19	7091	c.6703C>T	c.(6703-6705)Cgg>Tgg	p.R2235W	PDZD2_uc003jhm.3_Missense_Mutation_p.R2235W	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	2235					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.R2235W(2)|p.R2235L(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCATTTTGGACGGGAGGGTCA	0.632													40	360					0	0	1	0	0	T	32090257	C	T	32090257	3	4	198	1	0	0	0	0	1	0	0	0	11701	527	19	1	6777	1	PDZD2	5	32090257	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	18297984	32090257	148825003	37	8500											
BDP1	55814	broad.mit.edu	37	chr5	70806830	70806830	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatctgtgttactgaggaaaAggtggcagaattgaaacaaa	16	9	12	4	0	1	3	0	2	1	1	1	5	1	4	0	3	2	2	0	3	6	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:70806830A>G	uc003kbp.1	+	16	4174	c.3911A>G	c.(3910-3912)aAg>aGg	p.K1304R	BDP1_uc003kbn.1_Missense_Mutation_p.K1304R|BDP1_uc003kbo.3_Missense_Mutation_p.K1304R	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	1304	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ACTGAGGAAAAGGTGGCAGAA	0.393													3	57					0	0	1	0	0	G	70806830	A	G	70806830	3	3	198	1	0	0	0	0	1	0	0	0	1395	72	3	4	3977	4	BDP1	5	70806830	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	38716573	70806830	110108430	38	8501											
MAP1B	4131	broad.mit.edu	37	chr5	71493611	71493611	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagactttggccaagaaaagAaaactgatgatgttgaagcc	17	8	10	6	0	0	6	0	3	0	3	0	6	0	6	2	1	2	1	2	1	7	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:71493611A>G	uc003kbw.4	+	4	4670	c.4429A>G	c.(4429-4431)Aaa>Gaa	p.K1477E	MAP1B_uc010iyw.1_Missense_Mutation_p.K1494E|MAP1B_uc010iyx.1_Missense_Mutation_p.K1351E|MAP1B_uc010iyy.1_Missense_Mutation_p.K1351E	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	1477						microtubule|microtubule associated complex	structural molecule activity	p.K1476N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCAAGAAAAGAAAACTGATGA	0.403													16	32					0	0	1	0	0	G	71493611	A	G	71493611	3	3	198	1	0	0	0	0	1	0	0	0	9228	247	9	3	4447	3	MAP1B	5	71493611	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	686781	71493611	109421649	39	8502											
AQPEP	206338	broad.mit.edu	37	chr5	115298645	115298645	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctgcactacgatctggagCtgtggccgcagctgaggccc	6	7	14	14	3	1	1	0	1	1	0	1	3	1	2	2	3	4	5	2	3	1	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:115298645C>T	uc003kro.3	+	0	495	c.331C>T	c.(331-333)Ctg>Ttg	p.L111L	AQPEP_uc003krp.3_Non-coding_Transcript|AX747550_uc003krn.1_5'UTR	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	111					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										CGATCTGGAGCTGTGGCCGCA	0.701													17	77					0	0	1	0	0	T	115298645	C	T	115298645	2	4	198	1	0	0	0	0	0	0	0	1	834	796	28	3		3	AQPEP	5	115298645	Silent	SNP	C	TCGA-HT-7688-01A-11D-2253-08	43805034	115298645	65616615	40	8503											
FBN2	2201	broad.mit.edu	37	chr5	127782200	127782203	+	Frame_Shift_Del	DEL	TGTT	TGTT	-																															atttctgagtagtttcactcTgtttgtgaccagcagggcat																										TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:127782200_127782203delTGTT	uc003kuu.3	-	6	1362_1365	c.923_926delAACA	c.(922-927)aaacagfs	p.K308fs	FBN2_uc003kuv.2_Frame_Shift_Del_p.K275fs|FBN2_uc003kuw.4_Frame_Shift_Del_p.K308fs	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	308	EGF-like 4; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGTTTCACTCTGTTTGTGACCAGC	0.426													16	75	---	---	---	---						-	127782203	TGTT	-	127782200	7	5	198	1	0	1	0	1	0	0	0	0	5703	1580	55	0	8048	0	FBN2	5	127782200	Frame_Shift_Del	DEL	TGTT	TCGA-HT-7688-01A-11D-2253-08	12483555	127782200	53133060	41	8504											
CLK4	57396	broad.mit.edu	37	chr5	178045583	178045583	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactgatgacttgaacagtGtctattgcgcttccttttag	8	16	9	8	1	1	4	0	4	1	0	2	4	2	4	1	0	2	1	1	0	3	6			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:178045583G>C	uc003mjf.1	-	2	466	c.358C>G	c.(358-360)Cac>Gac	p.H120D	CLK4_uc003mjg.1_Missense_Mutation_p.H84D|CLK4_uc010jku.1_5'UTR|CLK4_uc003mjh.1_5'UTR|CLK4_uc010jkv.1_Non-coding_Transcript|CLK4_uc011dgg.1_Missense_Mutation_p.H120D|CLK4_uc011dgh.1_5'UTR|CLK4_uc011dgi.1_Missense_Mutation_p.H120D|CLK4_uc011dgj.1_Missense_Mutation_p.H120D|CLK4_uc003mji.2_Missense_Mutation_p.H120D	NM_020666	NP_065717	Q9HAZ1	CLK4_HUMAN	Homo sapiens CDC-like kinase 4 (CLK4), mRNA.	120						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		CTTGAACAGTGTCTATTGCGC	0.403													4	195					0	0	1	0	0	C	178045583	G	C	178045583	3	2	198	1	0	0	0	0	1	0	0	0	3539	1377	48	5	1131	5	CLK4	5	178045583	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	50263383	178045583	2869677	42	8505											
FOXQ1	94234	broad.mit.edu	37	chr6	1313391	1313391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatcaacgagtacctcatggGcaagttcccctttttccgcg	8	11	9	13	3	2	0	2	0	0	0	4	2	4	0	4	1	2	3	4	1	3	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:1313391G>A	uc003mtl.4	+	0	717	c.452G>A	c.(451-453)gGc>gAc	p.G151D		NM_033260	NP_150285	Q9C009	FOXQ1_HUMAN	Homo sapiens forkhead box Q1 (FOXQ1), mRNA.	151					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|caspase regulator activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		TACCTCATGGGCAAGTTCCCC	0.652													4	65					0	0	1	0	0	A	1313391	G	A	1313391	3	1	198	1	0	0	0	0	1	0	0	0	6030	1203	42	3	454	3	FOXQ1	6	1313391	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08		1313391	169801676	43	8506											
CAP2	10486	broad.mit.edu	37	chr6	17421817	17421817	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagggactggtggaaagaCtggaacgagctgtcagccgc	10	6	16	9	2	1	1	1	0	0	1	1	5	1	4	1	4	4	2	1	4	2	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:17421817C>G	uc003ncb.3	+	1	274	c.31C>G	c.(31-33)Ctg>Gtg	p.L11V	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Missense_Mutation_p.L11V|CAP2_uc011djb.2_Missense_Mutation_p.L11V|CAP2_uc011djc.2_Missense_Mutation_p.L11V|CAP2_uc011djd.2_Missense_Mutation_p.L11V	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	11					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			GGTGGAAAGACTGGAACGAGC	0.567													4	123					0	0	1	0	0	G	17421817	C	G	17421817	3	3	198	1	0	0	0	0	1	0	0	0	2620	564	20	5	33	5	CAP2	6	17421817	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	16108426	17421817	153693250	44	8507											
NKAPL	222698	broad.mit.edu	37	chr6	28227547	28227547	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggattggggaattgggagCgcctgaagtgtgggggccgt	7	8	21	5	2	0	1	0	1	0	0	0	5	0	4	2	6	1	0	2	6	2	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:28227547C>T	uc003nkt.3	+	0	450	c.398C>T	c.(397-399)gCg>gTg	p.A133V	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	Homo sapiens NFKB activating protein-like (NKAPL), mRNA.	133										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GAATTGGGAGCGCCTGAAGTG	0.537													4	148					0	0	1	0	0	T	28227547	C	T	28227547	3	4	198	1	0	0	0	0	1	0	0	0	10440	768	27	1	400	1	NKAPL	6	28227547	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	10805730	28227547	142887520	45	8508											
TRIM15	89870	broad.mit.edu	37	chr6	30138337	30138337	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaccttgtcaagaagaTccgtgatttccacaggaaaa	13	10	8	10	1	1	4	1	2	0	2	4	5	4	5	4	1	0	0	4	1	4	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:30138337T>C	uc010jrx.3	+	4	1270	c.791T>C	c.(790-792)aTc>aCc	p.I264T		NM_033229	NP_150232	Q9C019	TRI15_HUMAN	Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.	264					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GTCAAGAAGATCCGTGATTTC	0.483													3	89					0	0	1	0	0	C	30138337	T	C	30138337	3	2	198	1	0	0	0	0	1	0	0	0	16487	1435	50	3	809	3	TRIM15	6	30138337	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	1910790	30138337	140976730	46	8509											
NOTCH4	4855	broad.mit.edu	37	chr6	32181967	32181967	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgggcacagggtgcagagAtgcagccccctagctctgcc	8	6	13	14	0	1	1	0	0	1	1	1	2	1	1	3	2	5	4	3	2	1	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:32181967A>G	uc003obb.3	-	12	2226	c.2087T>C	c.(2086-2088)aTc>aCc	p.I696T	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	696	EGF-like 18.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGGTGCAGAGATGCAGCCCCC	0.587													4	184					0	0	1	0	0	G	32181967	A	G	32181967	3	3	198	1	0	0	0	0	1	0	0	0	10551	333	12	3	3996	3	NOTCH4	6	32181967	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	2043630	32181967	138933100	47	8510											
ZNF76	7629	broad.mit.edu	37	chr6	35255527	35255527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggagagcaccatcctggccGtacagacagaggtgggcttg	9	6	15	11	2	0	3	0	0	0	3	1	4	1	3	3	4	2	3	3	4	1	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:35255527G>A	uc003oki.1	+	4	542	c.337G>A	c.(337-339)Gta>Ata	p.V113I	ZNF76_uc011dsy.1_Missense_Mutation_p.V113I|ZNF76_uc011dsz.1_Missense_Mutation_p.V113I|ZNF76_uc003okj.1_Missense_Mutation_p.V113I|ZNF76_uc011dsx.2_Missense_Mutation_p.V113I	NM_003427	NP_003418	P36508	ZNF76_HUMAN	Homo sapiens zinc finger protein 76 (ZNF76), mRNA.	113					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CATCCTGGCCGTACAGACAGA	0.607													4	56					0	0	1	0	0	A	35255527	G	A	35255527	3	1	198	1	0	0	0	0	1	0	0	0	18132	1145	40	1	351	1	ZNF76	6	35255527	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	3073560	35255527	135859540	48	8511											
TREML2	79865	broad.mit.edu	37	chr6	41160191	41160191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caagtagacttccacataggGctctggtcttccaggtgggt	8	11	12	10	0	2	1	0	0	2	1	4	1	4	1	2	4	0	2	2	4	3	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:41160191G>A	uc010jxm.1	-	4	1119	c.940C>T	c.(940-942)Ccc>Tcc	p.P314S		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	314					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCCACATAGGGCTCTGGTCTT	0.587													6	38					0	0	1	0	0	A	41160191	G	A	41160191	3	1	198	1	0	0	0	0	1	0	0	0	16470	1203	42	3	29	3	TREML2	6	41160191	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	5904664	41160191	129954876	49	8512											
DDX43	55510	broad.mit.edu	37	chr6	74124393	74124393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatacgtacaccgaatagggCgcacgggaagagcagggtaa	15	4	14	8	4	0	1	0	0	0	1	0	3	0	2	1	3	3	4	1	3	7	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:74124393C>T	uc003pgw.3	+	13	2073	c.1729C>T	c.(1729-1731)Cgc>Tgc	p.R577C		NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA.	577	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CCGAATAGGGCGCACGGGAAG	0.428													4	105					0	0	1	0	0	T	74124393	C	T	74124393	3	4	198	1	0	0	0	0	1	0	0	0	4363	768	27	1	1783	1	DDX43	6	74124393	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	32964202	74124393	96990674	50	8513											
PRDM1	639	broad.mit.edu	37	chr6	106553291	106553291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttcctcttgcccccctacgGcatgaattgtaatggcctga	7	12	9	13	1	1	2	0	2	1	0	2	2	2	2	5	2	2	3	5	2	3	5			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:106553291G>A	uc003prd.2	+	4	1490	c.1256G>A	c.(1255-1257)gGc>gAc	p.G419D	PRDM1_uc003pre.3_Missense_Mutation_p.G285D	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	419					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CCCCCCTACGGCATGAATTGT	0.587			"D, N, Mis, F, S"		DLBCL								8	56					0	0	1	0	0	A	106553291	G	A	106553291	3	1	198	1	0	0	0	0	1	0	0	0	12450	1203	42	3	1287	3	PRDM1	6	106553291	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	32428898	106553291	64561776	51	8514											
TRDN	10345	broad.mit.edu	37	chr6	123759208	123759209	+	Splice_Site	INS	-	-	T																															aacaaagaaagtgcaataccINSttttttttccacatcaatgg																										TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:123759208_123759209insT	uc003pzj.2	-	12	1369	c.1051_splice	c.e12+1	p.E351_splice	TRDN_uc003pzk.2_Splice_Site_p.E352_splice|AL832096_uc003pzm.1_5'Flank	NM_006073	NP_006064	Q13061	TRDN_HUMAN	Homo sapiens triadin (TRDN), transcript variant 1, mRNA.	351					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		AGTGCAATACCTTTTTTTTCCA	0.337													4	7	---	---	---	---						T	123759209	-	T	123759208	8	5	198	1	0	1	1	0	0	0	1	0	16465	695	24	0	1258	0	TRDN	6	123759208	Splice_Site	INS	-	TCGA-HT-7688-01A-11D-2253-08	17205917	123759208	47355859	52	8515											
EPB41L2	2037	broad.mit.edu	37	chr6	131229973	131229976	+	Frame_Shift_Del	DEL	TCTT	TCTT	-																															atacttacttctcagttgtcTctttatttctttagcaggat																										TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:131229973_131229976delTCTT	uc003qch.2	-	4	1020_1023	c.838_841delAAGA	c.(838-843)aagagafs	p.K280fs	EPB41L2_uc010kfl.2_Frame_Shift_Del_p.K280fs|EPB41L2_uc003qcg.1_Frame_Shift_Del_p.K280fs|EPB41L2_uc003qci.3_Frame_Shift_Del_p.K280fs|EPB41L2_uc011eby.2_Frame_Shift_Del_p.K280fs|EPB41L2_uc010kfk.2_Frame_Shift_Del_p.K280fs	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	280	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTCAGTTGTCTCTTTATTTCTTTA	0.284													16	39	---	---	---	---						-	131229976	TCTT	-	131229973	7	5	198	1	0	1	0	1	0	0	0	0	5153	1559	54	0	2236	0	EPB41L2	6	131229973	Frame_Shift_Del	DEL	TCTT	TCGA-HT-7688-01A-11D-2253-08	7470765	131229973	39885094	53	8516											
ARID1B	57492	broad.mit.edu	37	chr6	157522373	157522373	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgccaccgtcactgccaaatCacatctccagggcgcccagc	9	5	8	19	3	3	0	2	0	1	0	4	0	3	0	5	1	2	0	5	1	1	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:157522373C>G	uc003qqp.3	+	16	4606	c.4606C>G	c.(4606-4608)Cac>Gac	p.H1536D	ARID1B_uc003qqo.3_Missense_Mutation_p.H1549D|ARID1B_uc003qqn.3_Missense_Mutation_p.H1589D	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1536	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ACTGCCAAATCACATCTCCAG	0.597													5	106					0	0	1	0	0	G	157522373	C	G	157522373	3	3	198	1	0	0	0	0	1	0	0	0	914	826	29	5	4715	5	ARID1B	6	157522373	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	26292400	157522373	13592694	54	8517											
IL6	3569	broad.mit.edu	37	chr7	22769188	22769188	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtttgaggtatacctagAgtacctccagaacagatttg	12	11	11	7	0	0	4	0	1	0	3	1	5	1	5	3	2	3	3	3	2	5	6			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:22769188A>T	uc003svj.4	+	3	496	c.380A>T	c.(379-381)gAg>gTg	p.E127V	LOC541472_uc010kun.2_5'Flank|IL6_uc011jyo.1_Missense_Mutation_p.E127V|IL6_uc011jyp.1_Missense_Mutation_p.E51V|IL6_uc011jyq.1_Missense_Mutation_p.E181V	NM_000600	NP_000591	P05231	IL6_HUMAN	Homo sapiens interleukin 6 (interferon, beta 2) (IL6), mRNA.	127					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of B cell activation|positive regulation of T cell proliferation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	GTATACCTAGAGTACCTCCAG	0.458													11	65					0	0	1	0	0	T	22769188	A	T	22769188	3	4	198	1	0	0	0	0	1	0	0	0	7701	304	11	5	394	5	IL6	7	22769188	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08		22769188	136369475	55	8518											
ADCYAP1R1	117	broad.mit.edu	37	chr7	31124371	31124371	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattattactacctgtcagTgaaggccctctacacggttg	9	12	10	10	1	2	1	1	1	1	0	2	2	2	2	2	3	3	1	2	3	5	5			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:31124371T>C	uc003tca.2	+	7	747	c.458T>C	c.(457-459)gTg>gCg	p.V153A	ADCYAP1R1_uc003tcg.3_Missense_Mutation_p.V153A|ADCYAP1R1_uc003tce.2_Missense_Mutation_p.V153A|ADCYAP1R1_uc003tcb.2_Missense_Mutation_p.V132A|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.V153A|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.	153					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						TACCTGTCAGTGAAGGCCCTC	0.567													4	171					0	0	1	0	0	C	31124371	T	C	31124371	3	2	198	1	0	0	0	0	1	0	0	0	303	1696	59	3	484	3	ADCYAP1R1	7	31124371	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	8355183	31124371	128014292	56	8519											
ADCYAP1R1	117	broad.mit.edu	37	chr7	31124392	31124392	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaggccctctacacggttgGctacagcacatccctcgtca	9	8	9	15	2	2	0	1	0	1	0	4	1	3	0	2	3	3	3	2	3	3	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:31124392G>C	uc003tca.2	+	7	768	c.479G>C	c.(478-480)gGc>gCc	p.G160A	ADCYAP1R1_uc003tcg.3_Missense_Mutation_p.G160A|ADCYAP1R1_uc003tce.2_Missense_Mutation_p.G160A|ADCYAP1R1_uc003tcb.2_Missense_Mutation_p.G139A|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.G160A|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.	160					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						TACACGGTTGGCTACAGCACA	0.562													5	189					0	0	1	0	0	C	31124392	G	C	31124392	3	2	198	1	0	0	0	0	1	0	0	0	303	1203	42	5	505	5	ADCYAP1R1	7	31124392	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	21	31124392	128014271	57	8520											
PURB	5814	broad.mit.edu	37	chr7	44924053	44924053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgactcttcgccgccgcCgctgcccccaccacgtcgct	3	8	8	22	6	2	1	0	1	2	0	4	1	2	1	6	0	1	2	6	0	0	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:44924053C>T	uc003tme.3	-	0	908	c.895G>A	c.(895-897)Ggc>Agc	p.G299S		NM_033224	NP_150093	Q96QR8	PURB_HUMAN	Homo sapiens purine-rich element binding protein B (PURB), mRNA.	299					regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						TCGCCGCCGCCGCTGCCCCCA	0.587													5	212					0	0	1	0	0	T	44924053	C	T	44924053	3	4	198	1	0	0	0	0	1	0	0	0	12828	652	23	2	47	2	PURB	7	44924053	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	13799661	44924053	114214610	58	8521											
PKD1L1	168507	broad.mit.edu	37	chr7	47920383	47920383	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagagtatggcttgattgTcactgtctgttctgtaatac	9	15	10	7	0	3	2	1	1	2	1	3	3	3	2	0	1	1	4	0	1	3	6			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:47920383T>C	uc003tny.2	-	20	3497	c.3463A>G	c.(3463-3465)Aca>Gca	p.T1155A		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	1155	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGCTTGATTGTCACTGTCTGT	0.468													3	83					0	0	1	0	0	C	47920383	T	C	47920383	3	2	198	1	0	0	0	0	1	0	0	0	11964	1667	58	3	5234	3	PKD1L1	7	47920383	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	2996330	47920383	111218280	59	8522											
GRB10	2887	broad.mit.edu	37	chr7	50686969	50686969	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggaccaccagctcatggtcTtccaagcacctctctgcagg	8	9	9	15	0	3	0	1	0	2	0	5	1	4	1	4	3	3	3	4	3	1	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:50686969T>C	uc003tpi.2	-	5	721	c.675A>G	c.(673-675)gaA>gaG	p.E225E	GRB10_uc003tph.3_Silent_p.E167E|GRB10_uc003tpj.2_Silent_p.E225E|GRB10_uc003tpk.2_Silent_p.E225E|GRB10_uc010kzb.2_Silent_p.E167E|GRB10_uc003tpl.2_Silent_p.E219E|GRB10_uc003tpm.2_Silent_p.E167E	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	225	Ras-associating.				insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GCTCATGGTCTTCCAAGCACC	0.443									Russell-Silver syndrome				5	101					0	0	1	0	0	C	50686969	T	C	50686969	2	2	198	1	0	0	0	0	0	0	0	1	6756	1606	56	4		4	GRB10	7	50686969	Silent	SNP	T	TCGA-HT-7688-01A-11D-2253-08	2766586	50686969	108451694	60	8523											
TRIM24	8805	broad.mit.edu	37	chr7	138268733	138268733	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatctttcaaaactgtgctGaattcaatgaggtgaggcta	12	13	10	6	0	3	4	2	4	1	0	3	4	3	4	0	2	2	2	0	2	5	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:138268733G>A	uc003vuc.3	+	17	3147	c.2932G>A	c.(2932-2934)Gaa>Aaa	p.E978K	TRIM24_uc003vub.3_Missense_Mutation_p.E944K	NM_015905	NP_056989	O15164	TIF1A_HUMAN	Homo sapiens tripartite motif containing 24 (TRIM24), transcript variant 1, mRNA.	978	Bromo.				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						AAACTGTGCTGAATTCAATGA	0.388													3	60					0	0	1	0	0	A	138268733	G	A	138268733	3	1	198	1	0	0	0	0	1	0	0	0	16495	1291	45	3	3002	3	TRIM24	7	138268733	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	87581764	138268733	20869930	61	8524											
ARHGEF35	445328	broad.mit.edu	37	chr7	143884337	143884337	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcctgcccccatcccaactCtctggctctttcgcctcctg	4	11	6	20	1	2	0	0	0	2	0	6	0	4	0	6	1	3	1	6	1	1	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:143884337C>T	uc003wdz.2	-	1	1313	c.1140G>A	c.(1138-1140)gaG>gaA	p.E380E	ARHGEF35_uc022aog.1_Silent_p.E380E	NM_001003702	NP_001003702	A5YM69	ARG35_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 35 (ARHGEF35), mRNA.	380	Glu-rich.									kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						CATCCCAACTCTCTGGCTCTT	0.557													10	76					0	0	1	0	0	T	143884337	C	T	143884337	2	4	198	1	0	0	0	0	0	0	0	1	905	912	32	3		3	ARHGEF35	7	143884337	Silent	SNP	C	TCGA-HT-7688-01A-11D-2253-08	5615604	143884337	15254326	62	8525											
INTS9	55756	broad.mit.edu	37	chr8	28625815	28625815	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atggcccttggctgtgtcctCcaccttaatatcactgaagc	8	12	8	13	0	1	1	1	1	0	0	3	1	3	1	4	2	1	1	4	2	3	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr8:28625815C>G	uc003xha.3	-	16	2124	c.1825G>C	c.(1825-1827)Gag>Cag	p.E609Q	INTS9_uc011lav.2_Missense_Mutation_p.E585Q|INTS9_uc011law.2_Missense_Mutation_p.E588Q|INTS9_uc011lax.2_Missense_Mutation_p.E502Q|INTS9_uc010lvc.3_Non-coding_Transcript	NM_018250	NP_001166033	Q9NV88	INT9_HUMAN	Homo sapiens integrator complex subunit 9 (INTS9), transcript variant 1, mRNA.	609					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		GCTGTGTCCTCCACCTTAATA	0.502													10	170					0	0	1	0	0	G	28625815	C	G	28625815	3	3	198	1	0	0	0	0	1	0	0	0	7785	864	30	5	155	5	INTS9	8	28625815	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08		28625815	117738207	63	8526											
PI15	51050	broad.mit.edu	37	chr8	75737530	75737530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgcactcctgttctcccttCtctgtgaagcaagtaccgtc	6	13	8	14	1	2	1	0	1	2	0	6	1	3	1	3	0	3	4	3	0	3	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr8:75737530C>T	uc003yal.3	+	1	225	c.46C>T	c.(46-48)Ctc>Ttc	p.L16F	AK024242_uc003yak.1_Intron|PI15_uc003yam.3_Missense_Mutation_p.L16F	NM_015886	NP_056970	O43692	PI15_HUMAN	Homo sapiens peptidase inhibitor 15 (PI15), mRNA.	16						extracellular region	peptidase inhibitor activity	p.L16I(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GTTCTCCCTTCTCTGTGAAGC	0.463													9	256					0	0	1	0	0	T	75737530	C	T	75737530	3	4	198	1	0	0	0	0	1	0	0	0	11868	913	32	3	48	3	PI15	8	75737530	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	47111715	75737530	70626492	64	8527											
TG	7038	broad.mit.edu	37	chr8	133912511	133912511	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgccaggctgcaggcatcGggggctggcacctggtgtgt	5	9	17	10	1	0	0	0	0	0	0	1	0	0	0	2	6	2	5	2	6	1	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr8:133912511G>A	uc003ytw.3	+	14	3401	c.3360G>A	c.(3358-3360)tcG>tcA	p.S1120S	TG_uc010mdw.3_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1120	Thyroglobulin type-1 9.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGCAGGCATCGGGGGCTGGCA	0.622													5	48					0	0	1	0	0	A	133912511	G	A	133912511	2	1	198	1	0	0	0	0	0	0	0	1	15810	1103	39	2		2	TG	8	133912511	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	58174981	133912511	12451511	65	8528											
PTK2	5747	broad.mit.edu	37	chr8	141889587	141889587	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacttccactcctctggtggGtgagcaagctcatacttctc	7	13	8	13	0	3	1	1	1	2	0	6	1	5	1	2	2	4	2	2	2	3	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr8:141889587G>A	uc003yvu.3	-	3	655	c.345C>T	c.(343-345)caC>caT	p.H115H	PTK2_uc003yvr.3_Silent_p.H14H|PTK2_uc003yvs.3_Silent_p.H115H|PTK2_uc011ljr.2_Silent_p.H115H|PTK2_uc003yvt.3_Silent_p.H137H|PTK2_uc003yvv.3_Intron	NM_153831	NP_722560	Q05397	FAK1_HUMAN	Homo sapiens PTK2 protein tyrosine kinase 2 (PTK2), transcript variant 1, mRNA.	115	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|SH2 domain binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CCTCTGGTGGGTGAGCAAGCT	0.463													4	203					0	0	1	0	0	A	141889587	G	A	141889587	2	1	198	1	0	0	0	0	0	0	0	1	12762	1252	44	3		3	PTK2	8	141889587	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	7977076	141889587	4474435	66	8529											
IFNA7	3444	broad.mit.edu	37	chr9	21201904	21201904	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgctgaagagattgaaGgtctgctggatcatctcatg	9	13	12	7	0	4	3	2	2	3	1	5	5	4	4	0	2	2	2	0	2	2	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:21201904G>A	uc003zop.1	-	0	301	c.261C>T	c.(259-261)acC>acT	p.T87T	IFNA14_uc003zoo.1_Intron	NM_021057	NP_066401	P01567	IFNA7_HUMAN	Homo sapiens interferon, alpha 7 (IFNA7), mRNA.	87					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGAGATTGAAGGTCTGCTGGA	0.478													3	67					0	0	1	0	0	A	21201904	G	A	21201904	2	1	198	1	0	0	0	0	0	0	0	1	7542	987	35	3		3	IFNA7	9	21201904	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08		21201904	120011527	67	8530											
FOXD4L5	653427	broad.mit.edu	37	chr9	70177705	70177705	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggccgccgcagaccttggCggtgccctgaacttggtgcc	5	7	15	14	3	0	2	0	1	0	1	0	3	0	2	5	4	3	1	5	4	1	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:70177705C>T	uc010moc.3	-	0	1111	c.279G>A	c.(277-279)ccG>ccA	p.P93P		NM_001126334	NP_001119806	Q5VV16	FX4L5_HUMAN	Homo sapiens forkhead box D4-like 5 (FOXD4L5), mRNA.	93					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.P93P(3)		endometrium(5)|lung(2)	7						CAGACCTTGGCGGTGCCCTGA	0.677													5	270					0	0	1	0	0	T	70177705	C	T	70177705	2	4	198	1	0	0	0	0	0	0	0	1	6002	755	27	1		1	FOXD4L5	9	70177705	Silent	SNP	C	TCGA-HT-7688-01A-11D-2253-08	48975801	70177705	71035726	68	8531											
RORB	6096	broad.mit.edu	37	chr9	77257632	77257632	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggaatcaaacagataaagCaagaacctatctatgacctc	17	8	6	10	0	2	3	1	1	1	2	3	4	2	4	2	1	3	1	2	1	8	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:77257632C>T	uc004aji.3	+	3	620	c.571C>T	c.(571-573)Caa>Taa	p.Q191*	RORB_uc004ajh.3_Nonsense_Mutation_p.Q180*	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	191	Hinge (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						ACAGATAAAGCAAGAACCTAT	0.468													10	60					0	0	1	0	0	T	77257632	C	T	77257632	4	4	198	1	0	0	0	0	0	1	0	0	13529	711	25	3	552	3	RORB	9	77257632	Nonsense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	7079927	77257632	63955799	69	8532											
PCSK5	5125	broad.mit.edu	37	chr9	78686647	78686647	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttctgtgttgaaggagtgCgaatgctggacggagatgtc	8	12	15	6	2	1	2	0	1	1	1	2	6	1	4	0	3	2	2	0	3	2	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:78686647C>T	uc004akc.2	+	6	1265	c.727C>T	c.(727-729)Cga>Tga	p.R243*	PCSK5_uc004ajy.2_Nonsense_Mutation_p.R243*|PCSK5_uc004ajz.3_Nonsense_Mutation_p.R243*|PCSK5_uc004aka.3_Non-coding_Transcript	NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	243	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGAAGGAGTGCGAATGCTGGA	0.512													4	129					0	0	1	0	0	T	78686647	C	T	78686647	4	4	198	1	0	0	0	0	0	1	0	0	11603	760	27	1	753	1	PCSK5	9	78686647	Nonsense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	1429015	78686647	62526784	70	8533											
PCSK5	5125	broad.mit.edu	37	chr9	78938042	78938042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcttctatgcagactcgCgccactgtgtcccctgccat	5	11	10	15	2	1	1	0	0	1	1	3	1	2	1	4	1	2	2	4	1	1	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:78938042C>T	uc004akc.2	+	30	4634	c.4096C>T	c.(4096-4098)Cgc>Tgc	p.R1366C		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	631					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGCAGACTCGCGCCACTGTGT	0.567													3	16					0	0	1	0	0	T	78938042	C	T	78938042	3	4	198	1	0	0	0	0	1	0	0	0	11603	783	27	1		1	PCSK5	9	78938042	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	251395	78938042	62275389	71	8534											
PCSK5	5125	broad.mit.edu	37	chr9	78943022	78943022	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtgggagctgcatggccaaCgagaagtgctcaccctccga	9	6	13	13	3	1	1	1	0	0	1	2	4	2	2	3	2	4	3	3	2	2	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:78943022C>T	uc004akc.2	+	31	4894	c.4356C>T	c.(4354-4356)aaC>aaT	p.N1452N		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	674					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCATGGCCAACGAGAAGTGCT	0.592													15	343					0	0	1	0	0	T	78943022	C	T	78943022	2	4	198	1	0	0	0	0	0	0	0	1	11603	551	19	1		1	PCSK5	9	78943022	Silent	SNP	C	TCGA-HT-7688-01A-11D-2253-08	4980	78943022	62270409	72	8535											
TNC	3371	broad.mit.edu	37	chr9	117849482	117849482	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcctttccagccaggttcGcagacacagccacatccttc	8	8	9	16	1	0	1	0	0	0	1	4	1	2	1	5	2	2	2	5	2	0	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:117849482G>A	uc004bjj.4	-	2	940	c.528C>T	c.(526-528)tgC>tgT	p.C176C	TNC_uc010mvf.3_Silent_p.C176C|TNC_uc022bmj.1_Silent_p.C176C	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	176	EGF-like 1; incomplete.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.C176C(2)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AGCCAGGTTCGCAGACACAGC	0.582													4	141					0	0	1	0	0	A	117849482	G	A	117849482	2	1	198	1	0	0	0	0	0	0	0	1	16267	1079	38	1		1	TNC	9	117849482	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	38906460	117849482	23363949	73	8536											
ASTN2	23245	broad.mit.edu	37	chr9	119413978	119413978	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccacacctgaaatgagctgGtcatctgacagcatctgggc	10	9	10	12	0	3	3	1	3	2	0	4	3	4	3	2	2	2	2	2	2	1	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:119413978G>A	uc004bjt.2	-	15	2849	c.2748C>T	c.(2746-2748)gaC>gaT	p.D916D	ASTN2_uc022bml.1_Silent_p.D612D|ASTN2_uc022bmm.1_Silent_p.D616D|ASTN2_uc004bjp.2_Silent_p.D68D|ASTN2_uc011lxr.2_Silent_p.D19D|ASTN2_uc011lxs.2_Silent_p.D19D|ASTN2_uc011lxt.2_Silent_p.D19D|ASTN2_uc004bjq.2_Silent_p.D19D|ASTN2_uc022bmn.1_Silent_p.D19D	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	967						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AAATGAGCTGGTCATCTGACA	0.582													5	109					0	0	1	0	0	A	119413978	G	A	119413978	2	1	198	1	0	0	0	0	0	0	0	1	1065	1252	44	3		3	ASTN2	9	119413978	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	1564496	119413978	21799453	74	8537											
NUP188	23511	broad.mit.edu	37	chr9	131760453	131760453	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatataatgcacctgactgaCtctgtggtgcgtcgccagct	8	11	11	11	2	1	2	0	2	1	0	2	3	1	2	2	1	3	2	2	1	2	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:131760453C>G	uc004bws.1	+	30	3397	c.3375C>G	c.(3373-3375)gaC>gaG	p.D1125E	NUP188_uc004bwu.3_Missense_Mutation_p.D468E	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	1125					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ACCTGACTGACTCTGTGGTGC	0.463													4	266					0	0	1	0	0	G	131760453	C	G	131760453	3	3	198	1	0	0	0	0	1	0	0	0	10758	564	20	5	3497	5	NUP188	9	131760453	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	12346475	131760453	9452978	75	8538											
SOHLH1	402381	broad.mit.edu	37	chr9	138589373	138589373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcccgctggacgctcccGtcccagggtctggcacacct	5	7	12	17	3	1	0	0	0	1	0	4	2	4	1	4	3	0	3	4	3	0	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:138589373G>A	uc010nbe.3	-	3	507	c.446C>T	c.(445-447)aCg>aTg	p.T149M	SOHLH1_uc004cgl.3_Missense_Mutation_p.T149M	NM_001101677	NP_001095147	Q5JUK2	SOLH1_HUMAN	Homo sapiens spermatogenesis and oogenesis specific basic helix-loop-helix 1 (SOHLH1), transcript variant 1, mRNA.	149					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.T149T(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		GGACGCTCCCGTCCCAGGGTC	0.597													3	41					0	0	1	0	0	A	138589373	G	A	138589373	3	1	198	1	0	0	0	0	1	0	0	0	14923	1145	40	1	778	1	SOHLH1	9	138589373	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	6828920	138589373	2624058	76	8539											
MYO3A	53904	broad.mit.edu	37	chr10	26463288	26463288	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttacaagagaaggcagcaGttgaggaaggacaagatgtc	15	6	15	5	0	0	3	0	1	0	2	1	6	0	5	0	4	2	4	0	4	5	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:26463288G>T	uc001isn.2	+	29	4455	c.4095G>T	c.(4093-4095)caG>caT	p.Q1365H	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1365	IQ 3.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAAGGCAGCAGTTGAGGAAGG	0.438													19	97					1.96292e-10	2.01139e-10	1	1	0	T	26463288	G	T	26463288	3	4	198	1	0	0	0	0	1	0	0	0	10076	1020	36	5	4205	5	MYO3A	10	26463288	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08		26463288	109071459	77	8540											
ANKRD30A	91074	broad.mit.edu	37	chr10	37486405	37486405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaatgaacaaacattgagaGcaggtacatttttcaatgta	17	11	8	5	0	1	3	1	2	0	2	1	4	1	3	0	1	4	3	0	1	6	5			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:37486405G>A	uc021ppc.1	+	28	2644	c.2545G>A	c.(2545-2547)Gca>Aca	p.A849T	ANKRD30A_uc001iza.1_Missense_Mutation_p.A849T	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	905						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AACATTGAGAGCAGGTACATT	0.328													7	69					0	0	1	0	0	A	37486405	G	A	37486405	3	1	198	1	0	0	0	0	1	0	0	0	658	971	34	3	2659	3	ANKRD30A	10	37486405	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	11023117	37486405	98048342	78	8541											
NCOA4	8031	broad.mit.edu	37	chr10	51585027	51585029	+	In_Frame_Del	DEL	AAG	AAG	-																															tgaatgaccacttggaggccAagaaaccattgtccaccccc																										TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:51585027_51585029delAAG	uc001jis.4	+	7	1329_1331	c.1126_1128delAAG	c.(1126-1128)aagdel	p.K377del	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|NCOA4_uc009xon.3_In_Frame_Del_p.K393del|NCOA4_uc010qhd.2_In_Frame_Del_p.K393del|NCOA4_uc010qhe.2_In_Frame_Del_p.K277del|NCOA4_uc010qhf.2_In_Frame_Del_p.K211del|NCOA4_uc001jit.3_In_Frame_Del_p.K377del|NCOA4_uc009xoo.3_In_Frame_Del_p.K377del	NM_001145263	NP_005428	Q13772	NCOA4_HUMAN	Homo sapiens nuclear receptor coactivator 4 (NCOA4), transcript variant 4, mRNA.	377					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CTTGGAGGCCAAGAAACCATTGT	0.522			T	RET	papillary thyroid								13	22	---	---	---	---						-	51585029	AAG	-	51585027	7	5	198	1	0	1	0	1	0	0	0	0	10231	131	5	0	1204	0	NCOA4	10	51585027	In_Frame_Del	DEL	AAG	TCGA-HT-7688-01A-11D-2253-08	14098622	51585027	83949720	79	8542											
MBL2	4153	broad.mit.edu	37	chr10	54531233	54531233	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccccttttctcccttggTgccatcacgcccatctttgc	3	15	5	18	1	3	0	1	0	2	0	5	0	4	0	5	1	2	0	5	1	0	5			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:54531233T>C	uc001jjt.3	-	0	228	c.163A>G	c.(163-165)Acc>Gcc	p.T55A		NM_000242	NP_000233	P11226	MBL2_HUMAN	Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA.	55	Collagen-like.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						TCTCCCTTGGTGCCATCACGC	0.537													10	81					0	0	1	0	0	C	54531233	T	C	54531233	3	2	198	1	0	0	0	0	1	0	0	0	9350	1696	59	3	599	3	MBL2	10	54531233	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	2946206	54531233	81003514	80	8543											
ARID5B	84159	broad.mit.edu	37	chr10	63845531	63845531	+	Frame_Shift_Del	DEL	A	A	-																															tgcctccaatcaaacctcggAaacaggagaacagttcacag																										TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:63845531delA	uc001jlt.2	+	8	1726	c.1270delA	c.(1270-1272)aaafs	p.K424fs	ARID5B_uc001jlu.2_Frame_Shift_Del_p.K181fs	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	424					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CAAACCTCGGAAACAGGAGAA	0.358													58	92	---	---	---	---						-	63845531	A	-	63845531	7	5	198	1	0	1	0	1	0	0	0	0	922	247	9	0	1304	0	ARID5B	10	63845531	Frame_Shift_Del	DEL	A	TCGA-HT-7688-01A-11D-2253-08	9314298	63845531	71689216	81	8544											
KIAA0913	23053	broad.mit.edu	37	chr10	75557692	75557693	+	Frame_Shift_Del	DEL	AG	AG	-																															ttcacacatccatcttcctcAgggggccaccagggtcctca																										TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:75557692_75557693delAG	uc001jvj.3	+	18	4056_4057	c.3801_3802delAG	c.(3799-3804)tcagggfs	p.S1267fs	KIAA0913_uc001jve.3_Frame_Shift_Del_p.S1272fs|KIAA0913_uc009xrl.3_Frame_Shift_Del_p.S1267fs|KIAA0913_uc001jvf.3_Frame_Shift_Del_p.S1267fs|KIAA0913_uc001jvh.3_Splice_Site|KIAA0913_uc001jvi.3_Frame_Shift_Del_p.S702fs|KIAA0913_uc010qkr.2_Frame_Shift_Del_p.S690fs|KIAA0913_uc009xrn.2_5'Flank	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	1267							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					CATCTTCCTCAGGGGGCCACCA	0.564													30	211	---	---	---	---						-	75557693	AG	-	75557692	7	5	198	1	0	1	0	1	0	0	0	0	8200	175	7	0	3890	0	KIAA0913	10	75557692	Frame_Shift_Del	DEL	AG	TCGA-HT-7688-01A-11D-2253-08	11712161	75557692	59977055	82	8545											
CYP2C19	1557	broad.mit.edu	37	chr10	96535297	96535297	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagttgagaaaaaccaaggGtgggtgaacatactctctat	14	9	12	6	0	1	2	0	2	1	1	2	4	1	3	1	3	3	1	1	3	6	3	rs77576043		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:96535297G>C	uc010qnz.2	+	3	481	c.481_splice	c.e3+1	p.A161_splice	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Splice_Site_p.A139_splice	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	161			A -> P.		exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AAAACCAAGGGTGGGTGAACA	0.498													9	150					0	0	1	0	0	C	96535297	G	C	96535297	5	2	198	1	0	0	0	0	0	0	1	0	4166	1275	44	5	492	5	CYP2C19	10	96535297	Splice_Site	SNP	G	TCGA-HT-7688-01A-11D-2253-08	20977605	96535297	38999450	83	8546											
CYP2C8	1558	broad.mit.edu	37	chr10	96824603	96824603	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaagttttcattgaatcttTtcatcagggtgagaaaattc	12	16	8	5	0	4	3	3	3	1	1	5	4	4	3	0	1	0	1	0	1	4	6			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:96824603T>A	uc001kkb.3	-	3	691	c.596A>T	c.(595-597)aAa>aTa	p.K199I	CYP2C8_uc010qoa.2_Missense_Mutation_p.K129I|CYP2C8_uc010qoc.2_Missense_Mutation_p.K97I|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.K113I|CYP2C8_uc021pwl.1_Missense_Mutation_p.K129I|CYP2C8_uc010qod.1_Missense_Mutation_p.K113I	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	199					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	ATTGAATCTTTTCATCAGGGT	0.408													4	64					0	0	1	0	0	A	96824603	T	A	96824603	3	1	198	1	0	0	0	0	1	0	0	0	4167	1841	64	5	900	5	CYP2C8	10	96824603	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	289306	96824603	38710144	84	8547											
MKI67	4288	broad.mit.edu	37	chr10	129923863	129923863	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaaacaagcaggtgctgagGctcaggggaaagtggggacc	12	4	16	9	0	1	1	1	1	0	0	1	3	1	3	2	6	3	3	2	6	3	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:129923863G>C	uc001lke.3	-	1	264	c.69C>G	c.(67-69)agC>agG	p.S23R	MKI67_uc001lkf.3_Missense_Mutation_p.S23R|MKI67_uc009yav.1_Missense_Mutation_p.S23R|MKI67_uc009yaw.1_5'UTR	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	23					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGGTGCTGAGGCTCAGGGGAA	0.517													11	104					0	0	1	0	0	C	129923863	G	C	129923863	3	2	198	1	0	0	0	0	1	0	0	0	9598	1194	42	5	9757	5	MKI67	10	129923863	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	33099260	129923863	5610884	85	8548											
DCHS1	8642	broad.mit.edu	37	chr11	6645159	6645159	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtgactggcacgactgagCtttggggtggctgcccacgg	6	8	16	11	2	0	2	0	2	0	0	0	3	0	2	1	5	2	3	1	5	0	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr11:6645159C>G	uc001mem.1	-	20	8149	c.7748G>C	c.(7747-7749)aGc>aCc	p.S2583T	DCHS1_uc021qdb.1_5'Flank	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	2583	Cadherin 24.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACGACTGAGCTTTGGGGTGG	0.537													9	163					0	0	1	0	0	G	6645159	C	G	6645159	3	3	198	1	0	0	0	0	1	0	0	0	4287	797	28	5	2152	5	DCHS1	11	6645159	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08		6645159	128361357	86	8549											
DCHS1	8642	broad.mit.edu	37	chr11	6645181	6645181	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggggtggctgcccacggtCagctgcagccactgttagat	6	10	14	11	1	1	1	1	0	0	1	1	1	1	1	2	4	4	4	2	4	1	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr11:6645181C>G	uc001mem.1	-	20	8127	c.7726G>C	c.(7726-7728)Gac>Cac	p.D2576H	DCHS1_uc021qdb.1_5'Flank	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	2576	Cadherin 24.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCCCACGGTCAGCTGCAGCC	0.562													5	111					0	0	1	0	0	G	6645181	C	G	6645181	3	3	198	1	0	0	0	0	1	0	0	0	4287	826	29	5	2174	5	DCHS1	11	6645181	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	22	6645181	128361335	87	8550											
EXPH5	23086	broad.mit.edu	37	chr11	108381248	108381248	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatttcttcacatgctttccGttctcactcaacctgctttc	6	17	4	14	1	4	0	3	0	2	0	7	1	5	0	2	0	3	3	2	0	1	5			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr11:108381248G>A	uc001pkk.3	-	5	5097	c.4986C>T	c.(4984-4986)aaC>aaT	p.N1662N	EXPH5_uc010rvz.2_Silent_p.N1506N|EXPH5_uc010rvy.2_Silent_p.N1474N	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1662					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CATGCTTTCCGTTCTCACTCA	0.473													7	187					0	0	1	0	0	A	108381248	G	A	108381248	2	1	198	1	0	0	0	0	0	0	0	1	5322	1136	40	1		1	EXPH5	11	108381248	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	101736067	108381248	26625268	88	8551											
SORL1	6653	broad.mit.edu	37	chr11	121429381	121429381	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggttctgctgcctatcacctGgtgtctgaggatgtgaagtg	6	13	14	8	0	3	2	1	2	2	0	3	3	3	3	2	3	2	2	2	3	2	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr11:121429381G>C	uc001pxx.3	+	19	2874	c.2745G>C	c.(2743-2745)ctG>ctC	p.L915L		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	915					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CCTATCACCTGGTGTCTGAGG	0.532													8	200					0	0	1	0	0	C	121429381	G	C	121429381	2	2	198	1	0	0	0	0	0	0	0	1	14934	1335	47	5		5	SORL1	11	121429381	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	13048133	121429381	13577135	89	8552											
CDON	50937	broad.mit.edu	37	chr11	125891236	125891237	+	Frame_Shift_Del	DEL	AA	AA	-																															caaaagagaggagttgagagAaagaattgtcagagtcccct																										TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr11:125891236_125891237delAA	uc009zbw.3	-	2	383_384	c.255_256delTT	c.(253-258)ctttctfs	p.L85fs	CDON_uc001qdc.4_Frame_Shift_Del_p.L85fs|CDON_uc001qdd.4_Non-coding_Transcript|CDON_uc009zbx.3_Frame_Shift_Del_p.L85fs	NM_001243597	NP_001230526	Q4KMG0	CDON_HUMAN	Homo sapiens Cdon homolog (mouse) (CDON), transcript variant 1, mRNA.	85	Ig-like C2-type 1.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GAGTTGAGAGAAAGAATTGTCA	0.475													19	74	---	---	---	---						-	125891237	AA	-	125891236	7	5	198	1	0	1	0	1	0	0	0	0	3170	246	9	0	3610	0	CDON	11	125891236	Frame_Shift_Del	DEL	AA	TCGA-HT-7688-01A-11D-2253-08	4461855	125891236	9115280	90	8553											
RPUSD4	84881	broad.mit.edu	37	chr11	126075477	126075477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactttcaccattttcccatCgtccatgcggtagctcgggg	6	12	9	14	3	1	0	1	0	0	0	5	0	3	0	3	3	2	2	3	3	1	4	rs143531642		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr11:126075477C>T	uc001qde.3	-	4	736	c.682G>A	c.(682-684)Gat>Aat	p.D228N	RPUSD4_uc010sbl.2_Missense_Mutation_p.D35N|RPUSD4_uc009zbz.3_Intron	NM_032795	NP_116184	Q96CM3	RUSD4_HUMAN	Homo sapiens RNA pseudouridylate synthase domain containing 4 (RPUSD4), transcript variant 1, mRNA.	228					pseudouridine synthesis		RNA binding|protein binding|pseudouridine synthase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		ATTTTCCCATCGTCCATGCGG	0.557													8	102					0	0	1	0	0	T	126075477	C	T	126075477	3	4	198	1	0	0	0	0	1	0	0	0	13669	884	31	2	463	2	RPUSD4	11	126075477	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	184241	126075477	8931039	91	8554											
ITPR2	3709	broad.mit.edu	37	chr12	26985677	26985677	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgtacagggacacgatgTcccctatgtagaggaagctg	10	7	13	11	3	0	1	0	0	0	1	1	4	1	3	3	2	2	3	3	2	4	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr12:26985677T>C	uc001rhg.3	-	0	455	c.38A>G	c.(37-39)gAc>gGc	p.D13G	ITPR2_uc001rhh.1_5'UTR|ITPR2_uc001rhi.1_Missense_Mutation_p.D13G	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	13					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GGACACGATGTCCCCTATGTA	0.622													3	104					0	0	1	0	0	C	26985677	T	C	26985677	3	2	198	1	0	0	0	0	1	0	0	0	7921	1667	58	3	8295	3	ITPR2	12	26985677	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08		26985677	106866218	92	8555											
C12orf40	283461	broad.mit.edu	37	chr12	40076514	40076514	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcagactacattactgaaaAacactcaatacagcatattt	17	11	4	9	0	2	2	2	1	0	1	2	2	2	2	0	0	5	1	0	0	7	5			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr12:40076514A>C	uc001rmc.3	+	7	955	c.788A>C	c.(787-789)aAa>aCa	p.K263T	C12orf40_uc009zjv.1_Non-coding_Transcript	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	263										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ATTACTGAAAAACACTCAATA	0.353													3	79					0	0	1	0	0	C	40076514	A	C	40076514	3	2	198	1	0	0	0	0	1	0	0	0	1686	14	1	5	818	5	C12orf40	12	40076514	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	13090837	40076514	93775381	93	8556											
HOXC4	3221	broad.mit.edu	37	chr12	54447735	54447735	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagctcgtatttgatggactCtaactacatcgatccgaaat	12	12	8	9	3	1	1	0	1	1	0	4	5	2	2	1	1	3	2	1	1	4	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr12:54447735C>G	uc001seu.3	+	2	709	c.29C>G	c.(28-30)tCt>tGt	p.S10C	HOXC4_uc001sex.3_Missense_Mutation_p.S10C	NM_014620	NP_705897	P09017	HXC4_HUMAN	Homo sapiens homeobox C4 (HOXC4), transcript variant 1, mRNA.	10						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						TTGATGGACTCTAACTACATC	0.423													10	70					0	0	1	0	0	G	54447735	C	G	54447735	3	3	198	1	0	0	0	0	1	0	0	0	7313	913	32	5	31	5	HOXC4	12	54447735	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	14371221	54447735	79404160	94	8557											
NCKAP1L	3071	broad.mit.edu	37	chr12	54917243	54917243	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagaaaaccaggaagcagagGcagactcccagaaaaggaga	20	1	12	8	0	0	5	0	0	0	5	1	7	1	6	2	3	2	2	2	3	6	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr12:54917243G>A	uc001sgc.4	+	18	2023	c.1944G>A	c.(1942-1944)agG>agA	p.R648R	NCKAP1L_uc010sox.2_Silent_p.R190R|NCKAP1L_uc010soy.2_Silent_p.R598R	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	648					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GGAAGCAGAGGCAGACTCCCA	0.522													6	96					0	0	1	0	0	A	54917243	G	A	54917243	2	1	198	1	0	0	0	0	0	0	0	1	10222	1194	42	3		3	NCKAP1L	12	54917243	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	469508	54917243	78934652	95	8558											
PTPRR	5801	broad.mit.edu	37	chr12	71050530	71050532	+	In_Frame_Del	DEL	CTT	CTT	-																															gcttagtgcatccacaactcCttcttctttcagctgttgac																										TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr12:71050530_71050532delCTT	uc001swi.2	-	12	2246_2248	c.1832_1834delAAG	c.(1831-1836)gaagga>gga	p.E611del	PTPRR_uc001swf.2_Non-coding_Transcript|PTPRR_uc001swg.2_Non-coding_Transcript|PTPRR_uc001swh.2_In_Frame_Del_p.E366del|PTPRR_uc009zrs.3_In_Frame_Del_p.E405del|PTPRR_uc010stq.2_In_Frame_Del_p.E499del	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	611	Tyrosine-protein phosphatase.				in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TCCACAACTCCTTCTTCTTTCAG	0.433													43	159	---	---	---	---						-	71050532	CTT	-	71050530	7	5	198	1	0	1	0	1	0	0	0	0	12810	690	24	0	147	0	PTPRR	12	71050530	In_Frame_Del	DEL	CTT	TCGA-HT-7688-01A-11D-2253-08	16133287	71050530	62801365	96	8559											
CLIP1	6249	broad.mit.edu	37	chr12	122773037	122773037	+	Splice_Site	DEL	T	T	-																															caataaacagaaagcttaccTttttttcatttctaacaact																										TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr12:122773037delT	uc001ucg.2	-	21	3802	c.3647_splice	c.e21+1	p.R1216_splice	CLIP1_uc001uch.1_Splice_Site_p.R1205_splice|CLIP1_uc001uci.1_Splice_Site_p.R1170_splice|CLIP1_uc001ucj.1_Splice_Site_p.R791_splice	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	1216					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		AAAGCTTACCTTTTTTTCATT	0.333													7	16	---	---	---	---						-	122773037	T	-	122773037	8	5	198	1	0	1	0	1	0	0	1	0	3532	1623	56	0	694	0	CLIP1	12	122773037	Splice_Site	DEL	T	TCGA-HT-7688-01A-11D-2253-08	51722507	122773037	11078858	97	8560											
RNF6	6049	broad.mit.edu	37	chr13	26788671	26788671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataggttcgaatacctgaccGctctaaacgagaaatggttc	13	10	9	9	3	1	2	0	1	1	1	3	4	1	2	2	2	2	3	2	2	6	5			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr13:26788671G>A	uc001uqo.3	-	4	1693	c.1348C>T	c.(1348-1350)Cgg>Tgg	p.R450W	RNF6_uc001uqn.1_Intron|RNF6_uc001uqp.3_Missense_Mutation_p.R450W|RNF6_uc001uqq.3_Missense_Mutation_p.R450W|RNF6_uc010tdk.2_Missense_Mutation_p.R94W	NM_183044	NP_898865	Q9Y252	RNF6_HUMAN	Homo sapiens ring finger protein (C3H2C3 type) 6 (RNF6), transcript variant 3, mRNA.	450					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	PML body|axon|cytoplasm	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding	p.R450W(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		ATACCTGACCGCTCTAAACGA	0.438													3	68					0	0	1	0	0	A	26788671	G	A	26788671	3	1	198	1	0	0	0	0	1	0	0	0	13498	1086	38	1	713	1	RNF6	13	26788671	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08		26788671	88381207	98	8561											
CUL4A	8451	broad.mit.edu	37	chr13	113891149	113891149	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatataggaaaccactgatTgcttgtgtggagaaacagct	13	12	10	6	0	0	2	0	1	0	1	0	4	0	3	1	2	4	2	1	2	5	5			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr13:113891149T>C	uc021rmv.1	+	8	872	c.861T>C	c.(859-861)atT>atC	p.I287I	CUL4A_uc021rmu.1_Silent_p.I187I|CUL4A_uc010agu.3_Silent_p.I148I|CUL4A_uc010tjz.2_5'UTR	NM_001008895	NP_003580	Q13619	CUL4A_HUMAN	Homo sapiens cullin 4A (CUL4A), transcript variant 1, mRNA.	287					DNA repair|G1/S transition of mitotic cell cycle|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			AACCACTGATTGCTTGTGTGG	0.358													3	56					0	0	1	0	0	C	113891149	T	C	113891149	2	2	198	1	0	0	0	0	0	0	0	1	4057	1800	63	3		3	CUL4A	13	113891149	Silent	SNP	T	TCGA-HT-7688-01A-11D-2253-08	87102478	113891149	1278729	99	8562											
SUPT16H	11198	broad.mit.edu	37	chr14	21838616	21838616	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctttaatggcttcaatcAttttgtcaaagctactctta	10	19	4	8	0	5	0	3	0	2	0	5	0	5	0	0	1	2	2	0	1	5	8			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr14:21838616A>G	uc001wao.2	-	3	701	c.362T>C	c.(361-363)aTg>aCg	p.M121T		NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Homo sapiens suppressor of Ty 16 homolog (S. cerevisiae) (SUPT16H), mRNA.	121					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		GGCTTCAATCATTTTGTCAAA	0.383													4	53					0	0	1	0	0	G	21838616	A	G	21838616	3	3	198	1	0	0	0	0	1	0	0	0	15393	217	8	3	2873	3	SUPT16H	14	21838616	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08		21838616	85510924	100	8563											
CHD8	57680	broad.mit.edu	37	chr14	21861840	21861840	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcgcatctcatagtcttgTggggttggtcggctcctggc	4	13	13	11	2	2	0	1	0	2	0	6	0	3	0	1	5	0	3	1	5	1	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr14:21861840T>G	uc001war.2	-	30	6179	c.6114A>C	c.(6112-6114)ccA>ccC	p.P2038P	CHD8_uc001was.2_Silent_p.P1759P|SNORD9_uc001wat.1_5'Flank	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	2038					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CATAGTCTTGTGGGGTTGGTC	0.547													5	51					0	0	1	0	0	G	21861840	T	G	21861840	2	3	198	1	0	0	0	0	0	0	0	1	3331	1683	59	5		5	CHD8	14	21861840	Silent	SNP	T	TCGA-HT-7688-01A-11D-2253-08	23224	21861840	85487700	101	8564											
TRIM9	114088	broad.mit.edu	37	chr14	51446210	51446210	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaaaaatgtcaagtttttTctatttaagtcgaggaggac	15	14	8	4	1	2	0	1	0	1	0	3	3	2	2	0	2	0	1	0	2	6	7			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr14:51446210T>C	uc001wyx.4	-	8	2730	c.1965A>G	c.(1963-1965)agA>agG	p.R655R	TRIM9_uc001wyy.2_Silent_p.R736R	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	655	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TCAAGTTTTTTCTATTTAAGT	0.453													11	186					0	0	1	0	0	C	51446210	T	C	51446210	2	2	198	1	0	0	0	0	0	0	0	1	16546	1780	62	3		3	TRIM9	14	51446210	Silent	SNP	T	TCGA-HT-7688-01A-11D-2253-08	29584370	51446210	55903330	102	8565											
C14orf37	145407	broad.mit.edu	37	chr14	58605972	58605974	+	In_Frame_Del	DEL	CCT	CCT	-																															gcatgaacatgtgctatctcCctcctcctttctattttggg																										TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr14:58605972_58605974delCCT	uc010tro.2	-	2	415_417	c.217_219delAGG	c.(217-219)aggdel	p.R73del	C14orf37_uc001xdc.3_In_Frame_Del_p.R35del|C14orf37_uc001xdd.3_In_Frame_Del_p.R35del|C14orf37_uc001xde.3_In_Frame_Del_p.R35del	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.	35						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GTGCTATCTCCCTCCTCCTTTCT	0.478													36	110	---	---	---	---						-	58605974	CCT	-	58605972	7	5	198	1	0	1	0	1	0	0	0	0	1771	622	22	0	2247	0	C14orf37	14	58605972	In_Frame_Del	DEL	CCT	TCGA-HT-7688-01A-11D-2253-08	7159762	58605972	48743568	103	8566											
PCNX	22990	broad.mit.edu	37	chr14	71492954	71492954	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaagttcaaattatatggaAtaactttcaccaatccactg	15	12	4	10	0	2	0	2	0	0	0	3	1	3	1	3	1	1	1	3	1	7	5			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr14:71492954A>C	uc001xmo.2	+	13	3750	c.3304A>C	c.(3304-3306)Ata>Cta	p.I1102L	PCNX_uc010are.1_Missense_Mutation_p.I991L|PCNX_uc010arf.1_5'UTR	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	1102						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ATTATATGGAATAACTTTCAC	0.338													3	23					0	0	1	0	0	C	71492954	A	C	71492954	3	2	198	1	0	0	0	0	1	0	0	0	11591	101	4	5	3358	5	PCNX	14	71492954	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	12886982	71492954	35856586	104	8567											
C15orf2	23742	broad.mit.edu	37	chr15	24923452	24923452	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgagcagtgcctctgcagCatcgttatccaagcctgcca	9	9	10	13	1	1	1	0	1	1	0	3	1	2	1	4	0	6	4	4	0	2	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr15:24923452C>T	uc001ywo.3	+	0	2912	c.2438C>T	c.(2437-2439)gCa>gTa	p.A813V		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	813					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GCCTCTGCAGCATCGTTATCC	0.522													5	160					0	0	1	0	0	T	24923452	C	T	24923452	3	4	198	1	0	0	0	0	1	0	0	0	1784	710	25	3	2440	3	C15orf2	15	24923452	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08		24923452	77607940	105	8568											
GATM	2628	broad.mit.edu	37	chr15	45658331	45658331	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatgcatgggattgggatcTttaaaggagatgatatgcac	13	12	12	4	0	1	2	0	1	1	1	1	5	1	4	0	3	2	2	0	3	4	5			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr15:45658331T>C	uc001zvc.3	-	5	1220	c.891A>G	c.(889-891)aaA>aaG	p.K297K	GATM_uc001zvb.3_Silent_p.K168K|GATM_uc010uev.1_Silent_p.K350K	NM_001482	NP_001473	P50440	GATM_HUMAN	Homo sapiens glycine amidinotransferase (L-arginine:glycine amidinotransferase) (GATM), nuclear gene encoding mitochondrial protein, mRNA.	297					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	GATTGGGATCTTTAAAGGAGA	0.428													21	59					0	0	1	0	0	C	45658331	T	C	45658331	2	2	198	1	0	0	0	0	0	0	0	1	6263	1606	56	4		4	GATM	15	45658331	Silent	SNP	T	TCGA-HT-7688-01A-11D-2253-08	20734879	45658331	56873061	106	8569											
SEMA6D	80031	broad.mit.edu	37	chr15	48052514	48052514	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcagattcaaggcaataTccggtttttagaggacgccc	10	11	10	10	2	1	2	1	0	0	2	2	3	2	3	2	3	1	3	2	3	4	6			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr15:48052514T>A	uc010bek.3	+	2	483	c.123T>A	c.(121-123)taT>taA	p.Y41*	SEMA6D_uc001zvw.3_Nonsense_Mutation_p.Y41*|SEMA6D_uc001zvx.1_Nonsense_Mutation_p.Y41*|SEMA6D_uc001zvy.3_Nonsense_Mutation_p.Y41*|SEMA6D_uc001zvz.3_Nonsense_Mutation_p.Y41*|SEMA6D_uc001zwa.3_Nonsense_Mutation_p.Y41*|SEMA6D_uc001zwb.3_Nonsense_Mutation_p.Y41*|SEMA6D_uc001zwc.3_Nonsense_Mutation_p.Y41*	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA.	41	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CAAGGCAATATCCGGTTTTTA	0.418													3	53					0	0	1	0	0	A	48052514	T	A	48052514	4	1	198	1	0	0	0	0	0	1	0	0	14042	1442	50	5	129	5	SEMA6D	15	48052514	Nonsense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	2394183	48052514	54478878	107	8570											
ALDH1A2	8854	broad.mit.edu	37	chr15	58254315	58254315	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccacattccagcttggcGccctcagccacaccactctg	7	8	6	20	1	2	0	1	0	1	0	4	0	4	0	6	1	2	1	6	1	0	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr15:58254315G>A	uc002aex.3	-	9	1419	c.1146C>T	c.(1144-1146)ggC>ggT	p.G382G	ALDH1A2_uc010ugv.2_Silent_p.G361G|ALDH1A2_uc002aey.3_Silent_p.G344G|ALDH1A2_uc010ugw.2_Silent_p.G353G|ALDH1A2_uc002aew.3_Silent_p.G286G	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	382					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CCAGCTTGGCGCCCTCAGCCA	0.473													4	91					0	0	1	0	0	A	58254315	G	A	58254315	2	1	198	1	0	0	0	0	0	0	0	1	491	1074	38	1		1	ALDH1A2	15	58254315	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	10201801	58254315	44277077	108	8571											
RASGRF1	5923	broad.mit.edu	37	chr15	79296193	79296193	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttctcaggggtcgtatcGccctcatctggaatcttgtt	5	14	11	11	2	4	0	2	0	3	0	7	1	4	1	1	4	0	3	1	4	2	4	rs111385391	byFrequency	TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr15:79296193G>A	uc002beq.3	-	15	2823	c.2448C>T	c.(2446-2448)ggC>ggT	p.G816G	RASGRF1_uc002bep.3_Silent_p.G800G|RASGRF1_uc010blm.1_Silent_p.G725G|RASGRF1_uc002ber.4_Silent_p.G800G|RASGRF1_uc010unh.1_Silent_p.G211G|RASGRF1_uc002beo.3_Silent_p.G32G	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	818					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGGTCGTATCGCCCTCATCTG	0.612													5	62					0	0	1	0	0	A	79296193	G	A	79296193	2	1	198	1	0	0	0	0	0	0	0	1	13072	1074	38	1		1	RASGRF1	15	79296193	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	21041878	79296193	23235199	109	8572											
PDE8A	5151	broad.mit.edu	37	chr15	85619979	85619979	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaagggtggatagagaagaGttgtccgtaatgcctttcat	11	12	13	5	1	1	3	1	1	0	2	2	5	2	4	2	2	1	2	2	2	4	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr15:85619979G>C	uc002blh.3	+	4	696	c.507G>C	c.(505-507)gaG>gaC	p.E169D	PDE8A_uc021stv.1_Missense_Mutation_p.E97D|PDE8A_uc002bli.3_Missense_Mutation_p.E169D|PDE8A_uc010bnc.3_5'UTR|PDE8A_uc010bnd.3_5'UTR|PDE8A_uc002blj.3_5'UTR|PDE8A_uc002blk.3_5'UTR	NM_002605	NP_001230066	O60658	PDE8A_HUMAN	Homo sapiens phosphodiesterase 8A (PDE8A), transcript variant 1, mRNA.	169					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			ATAGAGAAGAGTTGTCCGTAA	0.294													10	107					0	0	1	0	0	C	85619979	G	C	85619979	3	2	198	1	0	0	0	0	1	0	0	0	11653	1020	36	5	525	5	PDE8A	15	85619979	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	6323786	85619979	16911413	110	8573											
ATXN2L	11273	broad.mit.edu	37	chr16	28846954	28846954	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggccctgacaggcacgccgCcctctctgccaccgggacct	5	5	12	19	3	1	1	0	1	1	0	2	2	1	2	6	3	1	1	6	3	0	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr16:28846954C>G	uc002dqy.3	+	20	2937	c.2770C>G	c.(2770-2772)Ccc>Gcc	p.P924A	NPIPL1_uc010vct.2_Intron|ATXN2L_uc002dqz.3_Missense_Mutation_p.P924A|ATXN2L_uc002dra.3_Missense_Mutation_p.P924A|ATXN2L_uc002drb.3_Missense_Mutation_p.P924A|ATXN2L_uc002drc.3_Missense_Mutation_p.P924A|ATXN2L_uc010vdb.2_Missense_Mutation_p.P930A|ATXN2L_uc002dre.3_Missense_Mutation_p.P924A|ATXN2L_uc002drf.3_Missense_Mutation_p.P333A|ATXN2L_uc002drg.3_Missense_Mutation_p.P207A	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	924						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AGGCACGCCGCCCTCTCTGCC	0.677													5	61					0	0	1	0	0	G	28846954	C	G	28846954	3	3	198	1	0	0	0	0	1	0	0	0	1212	739	26	5	2852	5	ATXN2L	16	28846954	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08		28846954	61507799	111	8574											
ITGAM	3684	broad.mit.edu	37	chr16	31308840	31308840	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtctctttcagatcggCgcctacttcggggcctccct	3	13	9	16	3	2	1	1	0	1	1	7	1	4	1	4	3	1	0	4	3	1	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr16:31308840C>T	uc002ebr.3	+	12	1460	c.1362C>T	c.(1360-1362)ggC>ggT	p.G454G	ITGAM_uc002ebq.3_Silent_p.G454G|ITGAM_uc010cam.1_Missense_Mutation_p.R58C|ITGAM_uc010can.3_5'UTR	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	454					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TTCAGATCGGCGCCTACTTCG	0.582													6	228					0	0	1	0	0	T	31308840	C	T	31308840	2	4	198	1	0	0	0	0	0	0	0	1	7887	755	27	1		1	ITGAM	16	31308840	Silent	SNP	C	TCGA-HT-7688-01A-11D-2253-08	2461886	31308840	59045913	112	8575											
ZFHX3	463	broad.mit.edu	37	chr16	72827240	72827240	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccctggagcgctggatatGctgtaggaaggttaagggcc	8	9	16	8	1	0	0	0	0	0	0	0	3	0	3	2	5	3	4	2	5	4	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr16:72827240G>C	uc002fck.3	-	8	10014	c.9341C>G	c.(9340-9342)gCa>gGa	p.A3114G	ZFHX3_uc002fcl.3_Missense_Mutation_p.A2200G	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3114					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGCTGGATATGCTGTAGGAAG	0.562													3	232					0	0	1	0	0	C	72827240	G	C	72827240	3	2	198	1	0	0	0	0	1	0	0	0	17631	1319	46	5	1778	5	ZFHX3	16	72827240	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	41518400	72827240	17527513	113	8576											
TP53	7157	broad.mit.edu	37	chr17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctatctgagcagcgctcaTggtgggggcagcgcctcaca	7	7	14	13	3	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	1	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:7578394T>C	uc002gim.2	-	4	730	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_uc002gig.1_Missense_Mutation_p.H179R|TP53_uc002gih.3_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.2_Missense_Mutation_p.H140R	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(214)|p.H179Y(90)|p.H179L(78)|p.H179Q(19)|p.P177_C182delPHHERC(16)|p.H178fs*69(15)|p.H179N(14)|p.H179D(11)|p.H178Y(8)|p.0?(8)|p.C176_R181delCPHHER(6)|p.H179P(6)|p.H178fs*3(6)|p.H178P(6)|p.R175_E180delRCPHHE(6)|p.H178Q(5)|p.H178D(5)|p.H178_S183delHHERCS(4)|p.H47L(4)|p.H86L(4)|p.H179fs*68(3)|p.R174fs*24(3)|p.H178N(3)|p.P177_H179delPHH(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.H86R(2)|p.H178fs*6(2)|p.P177_E180delPHHE(2)|p.H47R(2)|p.R174fs*1(2)|p.H178H(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.H179fs*?(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.H179del(1)|p.H178L(1)|p.R175_H178>X(1)|p.P177_C182del(1)|p.R81fs*24(1)|p.H178del(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(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)		GCAGCGCTCATGGTGGGGGCA	0.642		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)			52	37					0	0	1	0	0	C	7578394	T	C	7578394	3	2	198	1	0	0	0	0	1	0	0	0	16378	1464	51	3	762	3	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08		7578394	73616816	114	8577											
ALDH3A1	218	broad.mit.edu	37	chr17	19646621	19646621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccaatgacgaggaccacGcccagtggctccgagtggat	9	6	14	12	3	0	1	0	1	0	0	1	5	1	3	4	3	1	1	4	3	1	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:19646621G>A	uc002gwk.3	-	1	331	c.68C>T	c.(67-69)gCg>gTg	p.A23V	ALDH3A1_uc010cqu.3_Silent_p.G106G|ALDH3A1_uc010vzd.2_Silent_p.G106G|ALDH3A1_uc002gwj.3_Silent_p.G106G|ALDH3A1_uc010cqv.3_Silent_p.G106G|ALDH3A1_uc002gwl.1_Silent_p.G33G			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	0					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CGAGGACCACGCCCAGTGGCT	0.627													4	80					0	0	1	0	0	A	19646621	G	A	19646621	3	1	198	1	0	0	0	0	1	0	0	0	497	1074	38	1	1079	1	ALDH3A1	17	19646621	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	12068227	19646621	61548589	115	8578											
TRAF4	9618	broad.mit.edu	37	chr17	27076467	27076468	+	Frame_Shift_Del	DEL	GA	GA	-																															cgtggcggggctccctggatGagagttctctgggctttggt																										TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:27076467_27076468delGA	uc002hcs.3	+	6	1393_1394	c.1285_1286delGA	c.(1285-1287)gagfs	p.E429fs	TRAF4_uc002hcq.1_Splice_Site_p.S155_splice	NM_004295	NP_004286	Q9BUZ4	TRAF4_HUMAN	Homo sapiens TNF receptor-associated factor 4 (TRAF4), mRNA.	429	MATH.				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|WW domain binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			CTCCCTGGATGAGAGTTCTCTG	0.554													8	92	---	---	---	---						-	27076468	GA	-	27076467	7	5	198	1	0	1	0	1	0	0	0	0	16440	1291	45	0	1311	0	TRAF4	17	27076467	Frame_Shift_Del	DEL	GA	TCGA-HT-7688-01A-11D-2253-08	7429846	27076467	54118743	116	8579											
CPD	1362	broad.mit.edu	37	chr17	28706125	28706125	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcggaggcgactaccacaActacgagcgcgggcgccgag	10	2	16	13	7	0	0	0	0	0	0	0	4	0	1	2	4	4	0	2	4	3	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:28706125A>G	uc002hfb.2	+	0	184	c.127A>G	c.(127-129)Act>Gct	p.T43A	CPD_uc010wbo.2_5'Flank|CPD_uc010wbp.2_5'Flank	NM_001304	NP_001295	O75976	CBPD_HUMAN	Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.	43	Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GACTACCACAACTACGAGCGC	0.706													2	2					0	0	1	0	0	G	28706125	A	G	28706125	3	3	198	1	0	0	0	0	1	0	0	0	3798	43	2	3	129	3	CPD	17	28706125	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	1629658	28706125	52489085	117	8580											
ZNF207	7756	broad.mit.edu	37	chr17	30696691	30696691	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccgtatgggcagggaccGccaatggtgcccccttacca	7	6	11	17	2	0	0	0	0	0	0	0	1	0	1	7	3	2	2	7	3	3	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:30696691G>A	uc010csz.3	+	12	1754	c.1407G>A	c.(1405-1407)ccG>ccA	p.P469P	ZNF207_uc002hhj.4_Silent_p.P466P|ZNF207_uc002hhh.4_Silent_p.P450P|ZNF207_uc002hhi.4_Silent_p.P435P|ZNF207_uc002hhk.1_Silent_p.P466P|ZNF207_uc002hhl.1_Non-coding_Transcript			O43670	ZN207_HUMAN	Homo sapiens zinc finger protein 207 (ZNF207), transcript variant 3, mRNA.	450						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GGCAGGGACCGCCAATGGTGC	0.527													7	57					0	0	1	0	0	A	30696691	G	A	30696691	2	1	198	1	0	0	0	0	0	0	0	1	17762	1074	38	1		1	ZNF207	17	30696691	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	1990566	30696691	50498519	118	8581											
CCR7	1236	broad.mit.edu	37	chr17	38715155	38715155	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacctcacctggaaaatgAcaaggagagccaccaccagc	16	3	9	13	0	1	3	1	1	0	2	1	5	1	4	5	2	3	0	5	2	4	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:38715155A>G	uc002huw.3	-	1	125	c.50T>C	c.(49-51)gTc>gCc	p.V17A		NM_001838	NP_001829	P32248	CCR7_HUMAN	Homo sapiens chemokine (C-C motif) receptor 7 (CCR7), mRNA.	17					T cell costimulation|cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				CTGGAAAATGACAAGGAGAGC	0.498													4	48					0	0	1	0	0	G	38715155	A	G	38715155	3	3	198	1	0	0	0	0	1	0	0	0	2946	275	10	3	1094	3	CCR7	17	38715155	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	8018464	38715155	42480055	119	8582											
KRT33A	3883	broad.mit.edu	37	chr17	39503321	39503321	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagatgcccacctgcgtggCgaaccattgctccacttccc	7	10	8	16	2	0	1	0	0	0	1	2	2	2	1	5	1	4	1	5	1	2	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:39503321C>T	uc002hwk.1	-	3	779	c.742G>A	c.(742-744)Gcc>Acc	p.A248T		NM_004138	NP_004129	O76009	KT33A_HUMAN	Homo sapiens keratin 33A (KRT33A), mRNA.	248	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				ACCTGCGTGGCGAACCATTGC	0.622													5	58					0	0	1	0	0	T	39503321	C	T	39503321	3	4	198	1	0	0	0	0	1	0	0	0	8469	768	27	1	488	1	KRT33A	17	39503321	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	788166	39503321	41691889	120	8583											
KRT17	3872	broad.mit.edu	37	chr17	39779208	39779208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctaggactcacttggtgCggaagtcatcagcagccaga	11	7	12	11	1	3	1	3	0	0	1	3	3	3	3	1	3	4	2	1	3	2	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:39779208C>T	uc002hxh.2	-	1	630	c.509G>A	c.(508-510)cGc>cAc	p.R170H	JUP_uc010wfs.2_Intron|KRT17_uc010wft.2_Missense_Mutation_p.R170H	NM_000422	NP_000413	Q04695	K1C17_HUMAN	Homo sapiens keratin 17 (KRT17), mRNA.	170	Coil 1B.|Rod.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				TCACTTGGTGCGGAAGTCATC	0.587													7	163					0	0	1	0	0	T	39779208	C	T	39779208	3	4	198	1	0	0	0	0	1	0	0	0	8454	768	27	1	817	1	KRT17	17	39779208	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	275887	39779208	41416002	121	8584											
PHB	5245	broad.mit.edu	37	chr17	47486775	47486775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgatgctggtgaagatgcgaGgaagctggctggcgacaggc	9	6	18	8	3	0	2	0	1	0	1	0	6	0	3	0	5	3	3	0	5	2	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:47486775G>A	uc002iox.1	-	3	384	c.311C>T	c.(310-312)cCt>cTt	p.P104L		NM_002634	NP_002625	P35232	PHB_HUMAN	Homo sapiens prohibitin (PHB), mRNA.	104					DNA replication|cellular response to interleukin-6|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			GAAGATGCGAGGAAGCTGGCT	0.512													3	137					0	0	1	0	0	A	47486775	G	A	47486775	3	1	198	1	0	0	0	0	1	0	0	0	11814	1000	35	3	523	3	PHB	17	47486775	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	7707567	47486775	33708435	122	8585											
C17orf47	284083	broad.mit.edu	37	chr17	56620229	56620229	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccggtgttgtcagctggCtttggggtgtttcaacttca	6	15	12	8	1	3	0	3	0	0	0	4	0	4	0	1	4	2	4	1	4	2	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:56620229C>T	uc002iwq.2	-	0	1505	c.1319G>A	c.(1318-1320)aGc>aAc	p.S440N	SEPT4_uc010wny.2_5'Flank|SEPT4_uc010wnx.2_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	Homo sapiens chromosome 17 open reading frame 47 (C17orf47), mRNA.	440										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTCAGCTGGCTTTGGGGTGT	0.507													43	72					0	0	1	0	0	T	56620229	C	T	56620229	3	4	198	1	0	0	0	0	1	0	0	0	1858	797	28	3	401	3	C17orf47	17	56620229	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	9133454	56620229	24574981	123	8586											
ABCA6	23460	broad.mit.edu	37	chr17	67080574	67080574	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcacacaccgcacgtaccTttctcgtgattcctgctgtt	7	13	6	15	3	2	1	1	1	1	0	4	1	3	1	3	0	2	4	3	0	1	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:67080574T>C	uc002jhw.1	-	33	4435	c.4260_splice	c.e33+1	p.K1420_splice		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	1420	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CGCACGTACCTTTCTCGTGAT	0.453													126	286					0	0	1	0	0	C	67080574	T	C	67080574	5	2	198	1	0	0	0	0	0	0	1	0	36	1623	56	4	622	4	ABCA6	17	67080574	Splice_Site	SNP	T	TCGA-HT-7688-01A-11D-2253-08	10460345	67080574	14114636	124	8587											
SLC26A11	284129	broad.mit.edu	37	chr17	78199637	78199637	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catctctgtgtttggacagaAcctgctgggactacagaaca	11	10	10	10	0	1	2	0	0	1	2	2	4	1	4	1	2	4	2	1	2	3	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:78199637A>G	uc002jyb.2	+	6	820	c.514_splice	c.e6-1	p.N172_splice	SLC26A11_uc002jyc.2_Splice_Site_p.N172_splice|SLC26A11_uc002jyd.2_Splice_Site_p.N172_splice|SLC26A11_uc010dhv.2_Splice_Site_p.N172_splice	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA.	172						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TTTGGACAGAACCTGCTGGGA	0.587													19	135					0	0	1	0	0	G	78199637	A	G	78199637	5	3	198	1	0	0	0	0	0	0	1	0	14516	57	2	3	529	3	SLC26A11	17	78199637	Splice_Site	SNP	A	TCGA-HT-7688-01A-11D-2253-08	11119063	78199637	2995573	125	8588											
ASXL3	80816	broad.mit.edu	37	chr18	31325552	31325552	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcagaacctatttcatgttGacaagaatggcggcttccac	12	10	9	10	1	1	3	1	1	0	2	2	3	2	3	2	2	2	3	2	2	4	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr18:31325552G>C	uc010dmg.1	+	11	5795	c.5740G>C	c.(5740-5742)Gac>Cac	p.D1914H	ASXL3_uc002kxq.2_Missense_Mutation_p.D1621H	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1914					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATTTCATGTTGACAAGAATGG	0.532													4	105					0	0	1	0	0	C	31325552	G	C	31325552	3	2	198	1	0	0	0	0	1	0	0	0	1068	1290	45	5	5786	5	ASXL3	18	31325552	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08		31325552	46751696	126	8589											
MC4R	4160	broad.mit.edu	37	chr18	58038877	58038877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcatattggcaccttggcGgatggcaccagtgccgggga	7	9	14	11	2	1	0	1	0	0	0	1	2	1	2	3	6	1	2	3	6	1	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr18:58038877G>A	uc002lie.1	-	0	1125	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C		NM_005912	NP_005903	P32245	MC4R_HUMAN	Homo sapiens melanocortin 4 receptor (MC4R), mRNA.	236					G-protein signaling, coupled to cAMP nucleotide second messenger|feeding behavior|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding	p.R236R(1)		endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				GCACCTTGGCGGATGGCACCA	0.517													11	48					0	0	1	0	0	A	58038877	G	A	58038877	3	1	198	1	0	0	0	0	1	0	0	0	9366	1116	39	2	296	2	MC4R	18	58038877	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	26713325	58038877	20038371	127	8590											
KRI1	65095	broad.mit.edu	37	chr19	10671046	10671046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcctcctcctcatagcGtttgttgaggatgtaatccc	6	15	7	13	1	2	1	1	1	1	0	6	2	6	2	4	1	1	3	4	1	2	5			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:10671046G>A	uc002moy.1	-	8	769	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C	KRI1_uc002mow.1_5'UTR|KRI1_uc002mox.1_Missense_Mutation_p.R250C	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	Homo sapiens KRI1 homolog (S. cerevisiae) (KRI1), mRNA.	254	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			tcctcATAGCGTTTGTTGAGG	0.552													6	50					0	0	1	0	0	A	10671046	G	A	10671046	3	1	198	1	0	0	0	0	1	0	0	0	8444	1145	40	1	1413	1	KRI1	19	10671046	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08		10671046	48457937	128	8591											
SMARCA4	6597	broad.mit.edu	37	chr19	11106926	11106928	+	In_Frame_Del	DEL	AGA	AGA	-																															gtaccgcaagctcatcgaccAgaagaaggacaagcgcctgg																										TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:11106926_11106928delAGA	uc010dxp.3	+	10	1991_1993	c.1631_1633delAGA	c.(1630-1635)cagaag>cag	p.K546del	SMARCA4_uc010dxo.3_In_Frame_Del_p.K546del|SMARCA4_uc002mqf.4_In_Frame_Del_p.K546del|SMARCA4_uc002mqg.1_In_Frame_Del_p.K546del|SMARCA4_uc010dxq.3_In_Frame_Del_p.K546del|SMARCA4_uc010dxr.3_In_Frame_Del_p.K546del|SMARCA4_uc002mqj.4_In_Frame_Del_p.K546del|SMARCA4_uc010dxs.3_In_Frame_Del_p.K546del|SMARCA4_uc002mqe.2_In_Frame_Del_p.K546del	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	546					chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTCATCGACCAGAAGAAGGACAA	0.576			"F, N, Mis"		NSCLC								29	146	---	---	---	---						-	11106928	AGA	-	11106926	7	5	198	1	0	1	0	1	0	0	0	0	14770	188	7	0	1665	0	SMARCA4	19	11106926	In_Frame_Del	DEL	AGA	TCGA-HT-7688-01A-11D-2253-08	435880	11106926	48022057	129	8592											
CYP4F22	126410	broad.mit.edu	37	chr19	15651449	15651449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacggcggcgggcactgcGtcagcagggggccgaggcct	6	3	20	12	5	1	0	1	0	0	0	1	2	1	1	2	7	3	2	2	7	1	0	rs146265982		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:15651449G>A	uc002nbh.4	+	7	1027	c.860G>A	c.(859-861)cGt>cAt	p.R287H		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	287						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CGGGCACTGCGTCAGCAGGGG	0.632													21	66					0	0	1	0	0	A	15651449	G	A	15651449	3	1	198	1	0	0	0	0	1	0	0	0	4189	1145	40	1	882	1	CYP4F22	19	15651449	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	4544523	15651449	43477534	130	8593											
ISYNA1	51477	broad.mit.edu	37	chr19	18545911	18545911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagcatgtggttctgtggcgGgagccccacgcaggccctgg	5	7	17	12	2	1	0	0	0	1	0	1	2	1	1	3	5	2	3	3	5	0	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:18545911G>A	uc002njd.2	-	10	1707	c.1489C>T	c.(1489-1491)Ccg>Tcg	p.P497S	ISYNA1_uc002nja.2_Missense_Mutation_p.P369S|ISYNA1_uc002njb.2_Missense_Mutation_p.P415S|ISYNA1_uc002njc.2_Missense_Mutation_p.P347S|ISYNA1_uc010xqh.2_Missense_Mutation_p.P295S|ISYNA1_uc002nje.2_Missense_Mutation_p.P443S	NM_016368	NP_001164410	Q9NPH2	INO1_HUMAN	Homo sapiens inositol-3-phosphate synthase 1 (ISYNA1), transcript variant 1, mRNA.	497					inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						TTCTGTGGCGGGAGCCCCACG	0.627													3	57					0	0	1	0	0	A	18545911	G	A	18545911	3	1	198	1	0	0	0	0	1	0	0	0	7867	1232	43	3	191	3	ISYNA1	19	18545911	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	2894462	18545911	40583072	131	8594											
ZNF599	148103	broad.mit.edu	37	chr19	35250972	35250972	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagtatgaagcctcataTgtcgaatgacatcagccata	13	9	7	12	1	2	2	2	2	0	0	3	3	2	2	4	0	2	1	4	0	5	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:35250972T>G	uc010edn.1	-	3	1122	c.734A>C	c.(733-735)cAt>cCt	p.H245P	ZNF599_uc010edm.2_Missense_Mutation_p.H208P	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	Homo sapiens zinc finger protein 599 (ZNF599), mRNA.	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AAGCCTCATATGTCGAATGAC	0.488													3	92					0	0	1	0	0	G	35250972	T	G	35250972	3	3	198	1	0	0	0	0	1	0	0	0	18026	1464	51	5	1036	5	ZNF599	19	35250972	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	16705061	35250972	23878011	132	8595											
NPHS1	4868	broad.mit.edu	37	chr19	36340183	36340183	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggattaccccctcgggccacGcacggcagctccaagctctg	7	6	11	17	3	1	0	0	0	1	0	3	1	2	1	4	3	3	4	4	3	2	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:36340183G>A	uc002oby.3	-	6	951	c.795C>T	c.(793-795)tgC>tgT	p.C265C		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	265	Ig-like C2-type 3.		C -> R (in NPHS1).		cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCGGGCCACGCACGGCAGCT	0.657													13	31					0	0	1	0	0	A	36340183	G	A	36340183	2	1	198	1	0	0	0	0	0	0	0	1	10582	1079	38	1		1	NPHS1	19	36340183	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	1089211	36340183	22788800	133	8596											
SIPA1L3	23094	broad.mit.edu	37	chr19	38643516	38643516	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccctgctatctcttgaTccccacttcagccacgatgg	7	10	6	18	1	2	1	1	1	1	0	4	2	3	1	5	1	2	1	5	1	1	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:38643516T>C	uc002ohk.3	+	12	4079	c.3570T>C	c.(3568-3570)gaT>gaC	p.D1190D		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	1190					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TATCTCTTGATCCCCACTTCA	0.617													39	149					0	0	1	0	0	C	38643516	T	C	38643516	2	2	198	1	0	0	0	0	0	0	0	1	14331	1432	50	3		3	SIPA1L3	19	38643516	Silent	SNP	T	TCGA-HT-7688-01A-11D-2253-08	2303333	38643516	20485467	134	8597											
PSG4	5672	broad.mit.edu	37	chr19	43411958	43411958	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctaacacatccttcttcTccctggggtttaagttgttg	7	15	9	10	0	2	0	0	0	2	0	4	0	3	0	2	3	1	4	2	3	2	7			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:43411958T>C	uc002ovj.1	-	3	854	c.755A>G	c.(754-756)gAg>gGg	p.E252G	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Missense_Mutation_p.E92G|PSG4_uc002ovg.1_Missense_Mutation_p.E252G	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	253	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region		p.R252H(1)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				ATCCTTCTTCTCCCTGGGGTT	0.502													5	219					0	0	1	0	0	C	43411958	T	C	43411958	3	2	198	1	0	0	0	0	1	0	0	0	12657	1551	54	4		4	PSG4	19	43411958	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	4768442	43411958	15717025	135	8598											
PTPRH	5794	broad.mit.edu	37	chr19	55708772	55708772	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcattctggagatctgtgAcctcattgggagctgagaag	9	13	12	7	0	4	3	2	2	2	2	4	6	4	4	1	2	1	1	1	2	1	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:55708772A>C	uc002qjq.3	-	8	1776	c.1703T>G	c.(1702-1704)gTc>gGc	p.V568G	PTPRH_uc010esv.3_Missense_Mutation_p.V390G|PTPRH_uc002qjs.2_Missense_Mutation_p.V575G	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	568	Fibronectin type-III 7.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GAGATCTGTGACCTCATTGGG	0.552													3	77					0	0	1	0	0	C	55708772	A	C	55708772	3	2	198	1	0	0	0	0	1	0	0	0	12803	275	10	5	1692	5	PTPRH	19	55708772	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	12296814	55708772	3420211	136	8599											
ZNF17	7565	broad.mit.edu	37	chr19	57932608	57932608	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactagggaaagaacttacaAatgcagcaaatgtgggaaat	18	7	10	6	0	0	1	0	0	0	1	0	3	0	3	0	2	4	2	0	2	7	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:57932608A>G	uc002qop.1	+	3	2020	c.1754A>G	c.(1753-1755)aAa>aGa	p.K585R	ZNF17_uc021vck.1_Missense_Mutation_p.K576R|ZNF17_uc002qoo.1_Missense_Mutation_p.K583R	NM_006959	NP_008890	P17021	ZNF17_HUMAN	Homo sapiens zinc finger protein 17 (ZNF17), mRNA.	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		AGAACTTACAAATGCAGCAAA	0.428													9	31					0	0	1	0	0	G	57932608	A	G	57932608	3	3	198	1	0	0	0	0	1	0	0	0	17740	14	1	3	1758	3	ZNF17	19	57932608	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	2223836	57932608	1196375	137	8600											
TGM6	343641	broad.mit.edu	37	chr20	2411182	2411182	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggctgccatgtgccttgTcaccaaaggagagaagcttc	9	10	12	10	0	1	1	1	0	0	1	2	3	1	2	3	2	3	3	3	2	2	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr20:2411182T>C	uc002wfy.1	+	10	1830	c.1769T>C	c.(1768-1770)gTc>gCc	p.V590A	TGM6_uc010gal.1_Missense_Mutation_p.V590A	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	590					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ATGTGCCTTGTCACCAAAGGA	0.458													4	57					0	0	1	0	0	C	2411182	T	C	2411182	3	2	198	1	0	0	0	0	1	0	0	0	15831	1667	58	3	1811	3	TGM6	20	2411182	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08		2411182	60614338	138	8601											
TPX2	22974	broad.mit.edu	37	chr20	30388772	30388772	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taacttttccttactttgcaGgtgcataaggcaaatccaat	12	14	6	9	0	0	0	0	0	0	0	2	0	2	0	2	2	4	3	2	2	5	6			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr20:30388772G>C	uc002wwp.1	+	18	2832	c.2134_splice	c.e18-1	p.V712_splice	TPX2_uc010gdv.1_Splice_Site_p.V748_splice	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA.	712					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			TTACTTTGCAGGTGCATAAGG	0.398													9	142					0	0	1	0	0	C	30388772	G	C	30388772	5	2	198	1	0	0	0	0	0	0	1	0	16429	1014	35	5	2195	5	TPX2	20	30388772	Splice_Site	SNP	G	TCGA-HT-7688-01A-11D-2253-08	27977590	30388772	32636748	139	8602											
COL20A1	57642	broad.mit.edu	37	chr20	61960983	61960983	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcagccctgggcagcagggGgctagcacccagggcctctg	6	4	17	14	0	1	0	0	0	1	0	1	0	1	0	3	5	3	5	3	5	1	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr20:61960983G>A	uc011aau.2	+	34	3928	c.3828G>A	c.(3826-3828)ggG>ggA	p.G1276G	COL20A1_uc011aav.2_Silent_p.G1103G	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	1276					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGCAGCAGGGGGCTAGCACCC	0.662													4	21					0	0	1	0	0	A	61960983	G	A	61960983	2	1	198	1	0	0	0	0	0	0	0	1	3679	1219	43	3		3	COL20A1	20	61960983	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	31572211	61960983	1064537	140	8603											
ZNF512B	57473	broad.mit.edu	37	chr20	62598777	62598777	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcggcttttggccgccccTttttcttcccttctgtcttg	0	19	7	15	2	4	0	0	0	4	0	6	0	5	0	4	2	0	1	4	2	0	7			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr20:62598777T>C	uc002yhl.1	-	2	275	c.221A>G	c.(220-222)aAg>aGg	p.K74R		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	Homo sapiens zinc finger protein 512B (ZNF512B), mRNA.	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGGCCGCCCCTTTTTCTTCCC	0.632													4	150					0	0	1	0	0	C	62598777	T	C	62598777	3	2	198	1	0	0	0	0	1	0	0	0	17954	1609	56	4	2517	4	ZNF512B	20	62598777	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	637794	62598777	426743	141	8604											
OSBP2	23762	broad.mit.edu	37	chr22	31137232	31137232	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acggaggactcttgtggtatCttgctgaccagtggggccag	7	10	15	9	1	2	1	0	1	2	0	2	3	2	3	2	5	1	2	2	5	1	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr22:31137232C>G	uc003aiy.1	+	1	833	c.729C>G	c.(727-729)atC>atG	p.I243M	OSBP2_uc011ala.1_Missense_Mutation_p.I78M|OSBP2_uc010gwc.1_Missense_Mutation_p.I70M|OSBP2_uc003aix.1_Missense_Mutation_p.I243M|OSBP2_uc011alb.1_Missense_Mutation_p.I243M|OSBP2_uc003aiz.1_Missense_Mutation_p.I243M	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	243	PH.				lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CTTGTGGTATCTTGCTGACCA	0.597													4	65					0	0	1	0	0	G	31137232	C	G	31137232	3	3	198	1	0	0	0	0	1	0	0	0	11274	903	32	5	735	5	OSBP2	22	31137232	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08		31137232	20167334	142	8605											
ATRX	546	broad.mit.edu	37	chrX	76875860	76875861	+	Splice_Site	DEL	CA	CA	-																															cataatcagagatattaactCacactcaattaggttatttt																										TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chrX:76875860_76875861delCA	uc004ecp.4	-	20	5504	c.5272_splice	c.e20+1	p.Y1758_splice	ATRX_uc004ecq.4_Splice_Site_p.Y1720_splice|ATRX_uc004eco.4_Splice_Site_p.Y1543_splice	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1758	Helicase ATP-binding.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GATATTAACTCACACTCAATTA	0.317			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						9	34	---	---	---	---						-	76875861	CA	-	76875860	8	5	198	1	0	1	0	1	0	0	1	0	1208	841	29	0		0	ATRX	23	76875860	Splice_Site	DEL	CA	TCGA-HT-7688-01A-11D-2253-08		76875860	78394700	143	8606											
LHFPL1	340596	broad.mit.edu	37	chrX	111914407	111914407	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgggatggcattgaagctgGcatagcgcccacattcttcc	8	11	11	11	1	1	1	0	1	1	0	2	2	2	2	2	3	2	3	2	3	2	5			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chrX:111914407G>C	uc004epp.3	-	0	354	c.281C>G	c.(280-282)gCc>gGc	p.A94G	LHFPL1_uc004epq.3_Missense_Mutation_p.A71G|LHFPL1_uc010nqa.3_Intron|LHFPL1_uc010nqb.3_Missense_Mutation_p.A71G	NM_178175	NP_835469	Q86WI0	LHPL1_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 1 (LHFPL1), mRNA.	71						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						ATTGAAGCTGGCATAGCGCCC	0.592													3	57					0	0	1	0	0	C	111914407	G	C	111914407	3	2	198	1	0	0	0	0	1	0	0	0	8764	1203	42	5	462	5	LHFPL1	23	111914407	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	35038547	111914407	43356153	144	8607											
FRMD7	90167	broad.mit.edu	37	chrX	131212491	131212491	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctacatagctatgtggActtgtcctttcctctgctct	5	16	8	12	0	3	0	0	0	3	0	5	1	5	1	2	2	3	3	2	2	3	5			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chrX:131212491A>G	uc004ewn.3	-	11	1732	c.1554T>C	c.(1552-1554)agT>agC	p.S518S	FRMD7_uc022cdy.1_Silent_p.S398S|FRMD7_uc011muy.2_Silent_p.S503S	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	518					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					AGCTATGTGGACTTGTCCTTT	0.493													3	84					0	0	1	0	0	G	131212491	A	G	131212491	2	3	198	1	0	0	0	0	0	0	0	1	6055	272	10	3		3	FRMD7	23	131212491	Silent	SNP	A	TCGA-HT-7688-01A-11D-2253-08	19298084	131212491	24058069	145	8608											
FMR1NB	158521	broad.mit.edu	37	chrX	147084823	147084823	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgcattggaagctttgctgaAttttttctttccaacaagta	10	16	7	8	1	1	1	0	1	1	0	2	2	2	2	1	1	3	4	1	1	5	7			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chrX:147084823A>G	uc004fcm.3	+	1	454	c.380A>G	c.(379-381)aAt>aGt	p.N127S		NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	Homo sapiens fragile X mental retardation 1 neighbor (FMR1NB), mRNA.	127	P-type.					integral to membrane		p.F130fs*17(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GCTTTGCTGAATTTTTTCTTT	0.373													5	22					0	0	1	0	0	G	147084823	A	G	147084823	3	3	198	1	0	0	0	0	1	0	0	0	5961	101	4	3	386	3	FMR1NB	23	147084823	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	15872332	147084823	8185737	146	8609											
MAGEA12	4111	broad.mit.edu	37	chrX	151896273	151896273	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggtttttttgaagcggCggtcttttagggagagcctt	6	15	13	7	2	2	2	1	1	1	1	2	3	2	2	1	4	2	1	1	4	2	6	rs2471768	by1000genomes	TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chrX:151896273C>T	uc004fgb.3	-	3		c.506G>A						P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.											breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGAAGCGGCGGTCTTTTAG	0.502													3	33					0	0	1	0	0	T	151896273	C	T	151896273	1	4	198	0	1	0	0	0	0	0	0	0	9166	783	27	1		1	MAGEA12	23	151896273	RNA	SNP	C	TCGA-HT-7688-01A-11D-2253-08	4811450	151896273	3374287	147	8610											
UTY	7404	broad.mit.edu	37	chrY	15522901	15522901	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagacttgtagtctgtgttcActttgaacatgagcccaagt	10	14	9	8	0	2	3	1	2	1	1	2	3	2	3	1	0	2	2	1	0	4	5			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chrY:15522901A>G	uc022ckf.1	-	5	1532	c.527T>C	c.(526-528)gTg>gCg	p.V176A	UTY_uc022cjp.1_5'UTR|UTY_uc022ckv.1_Missense_Mutation_p.V176A|UTY_uc022cjq.1_Missense_Mutation_p.V176A|UTY_uc022ckw.1_Missense_Mutation_p.V176A|UTY_uc022cjr.1_Missense_Mutation_p.V176A|UTY_uc022ckx.1_Missense_Mutation_p.V176A|UTY_uc022cjs.1_Missense_Mutation_p.V176A|UTY_uc022cky.1_Missense_Mutation_p.V4A|UTY_uc022cjt.1_5'UTR|UTY_uc022ckz.1_5'UTR|UTY_uc022cju.1_Non-coding_Transcript|UTY_uc022cla.1_5'UTR|UTY_uc022cjv.1_Missense_Mutation_p.V123A|UTY_uc022clb.1_5'UTR|UTY_uc022cjw.1_Missense_Mutation_p.V176A|UTY_uc022cjx.1_Missense_Mutation_p.V176A|UTY_uc022cjy.1_Intron|UTY_uc022cjz.1_Missense_Mutation_p.V176A|UTY_uc022cka.1_Non-coding_Transcript|UTY_uc022ckb.1_Intron|UTY_uc022ckc.1_Intron|UTY_uc022ckd.1_5'UTR|UTY_uc022cke.1_Non-coding_Transcript|UTY_uc022ckg.1_Missense_Mutation_p.V176A|UTY_uc022ckh.1_5'UTR|UTY_uc022cki.1_Missense_Mutation_p.V176A|UTY_uc022ckj.1_Missense_Mutation_p.V176A|UTY_uc022ckk.1_Missense_Mutation_p.V176A|UTY_uc022ckl.1_5'UTR|UTY_uc022ckm.1_Missense_Mutation_p.V176A|UTY_uc022ckn.1_Missense_Mutation_p.V176A|UTY_uc022cko.1_Missense_Mutation_p.V176A|UTY_uc022ckp.1_Missense_Mutation_p.V176A|UTY_uc004fsx.1_Missense_Mutation_p.V176A|UTY_uc022ckq.1_Missense_Mutation_p.V176A|UTY_uc022cjl.1_5'UTR|UTY_uc022ckr.1_5'UTR|UTY_uc022cjm.1_Missense_Mutation_p.V176A|UTY_uc022cks.1_Missense_Mutation_p.V176A|UTY_uc022cjn.1_5'UTR|UTY_uc022ckt.1_Missense_Mutation_p.V176A|UTY_uc022cjo.1_5'UTR|UTY_uc022cku.1_5'UTR|UTY_uc022clc.1_Missense_Mutation_p.V176A|UTY_uc022cld.1_Missense_Mutation_p.V176A|UTY_uc022cle.1_5'UTR|UTY_uc022clf.1_Missense_Mutation_p.V176A|UTY_uc022clg.1_5'UTR|UTY_uc022clh.1_Missense_Mutation_p.V176A|UTY_uc022cli.1_Missense_Mutation_p.V176A|UTY_uc022clj.1_5'UTR|UTY_uc022clk.1_5'UTR|UTY_uc022cll.1_Missense_Mutation_p.V4A|UTY_uc022clm.1_5'UTR|UTY_uc022cln.1_5'UTR|UTY_uc022clo.1_Missense_Mutation_p.V176A|UTY_uc022clp.1_Missense_Mutation_p.V4A|UTY_uc022clq.1_Missense_Mutation_p.V176A|UTY_uc004fsy.3_Missense_Mutation_p.V176A|UTY_uc022clr.1_5'UTR|UTY_uc022cls.1_Missense_Mutation_p.V176A|UTY_uc022clt.1_5'UTR|UTY_uc022clu.1_Missense_Mutation_p.V176A|UTY_uc022clv.1_5'UTR|UTY_uc022clw.1_Missense_Mutation_p.V176A|UTY_uc022clx.1_Missense_Mutation_p.V176A|UTY_uc022cly.1_Missense_Mutation_p.V176A|UTY_uc022clz.1_5'UTR|UTY_uc022cma.1_5'UTR|UTY_uc022cmb.1_5'UTR|UTY_uc022cng.1_Missense_Mutation_p.V176A|UTY_uc022cnh.1_Intron|UTY_uc004fsz.3_Missense_Mutation_p.V176A|UTY_uc022cmc.1_Non-coding_Transcript|UTY_uc022cmd.1_5'UTR|UTY_uc022cme.1_Non-coding_Transcript|UTY_uc022cmf.1_5'UTR|UTY_uc022cmg.1_Missense_Mutation_p.V176A|UTY_uc022cmh.1_Missense_Mutation_p.V176A|UTY_uc022cmi.1_5'UTR|UTY_uc022cmj.1_Missense_Mutation_p.V176A|UTY_uc022cmk.1_5'UTR|UTY_uc022cml.1_Missense_Mutation_p.V176A|UTY_uc022cmm.1_Missense_Mutation_p.V176A|UTY_uc022cmn.1_Missense_Mutation_p.V176A|UTY_uc022cmo.1_5'UTR|UTY_uc022cmp.1_Non-coding_Transcript|UTY_uc022cmq.1_Non-coding_Transcript|UTY_uc022cmr.1_Missense_Mutation_p.V176A|UTY_uc022cms.1_Missense_Mutation_p.V176A|UTY_uc022cmt.1_Missense_Mutation_p.V176A|UTY_uc022cmu.1_Missense_Mutation_p.V176A|UTY_uc022cmv.1_Missense_Mutation_p.V176A|UTY_uc022cmw.1_5'UTR|UTY_uc022cmx.1_5'UTR|UTY_uc022cmy.1_5'UTR|UTY_uc022cmz.1_5'UTR|UTY_uc022cna.1_Missense_Mutation_p.V4A|UTY_uc022cnb.1_5'UTR|UTY_uc022cnc.1_5'UTR|UTY_uc022cnd.1_Missense_Mutation_p.V176A|UTY_uc022cne.1_Non-coding_Transcript|UTY_uc022cnf.1_Missense_Mutation_p.V176A|UTY_uc022cni.1_5'UTR|UTY_uc022cnj.1_5'UTR|UTY_uc022cnk.1_Missense_Mutation_p.V176A|UTY_uc022cnl.1_Missense_Mutation_p.V176A|UTY_uc022cnm.1_Missense_Mutation_p.V176A|UTY_uc022cnn.1_Missense_Mutation_p.V176A|UTY_uc022cno.1_Missense_Mutation_p.V176A|UTY_uc022cnp.1_Missense_Mutation_p.V176A|UTY_uc022cnq.1_Missense_Mutation_p.V176A|UTY_uc022cnr.1_5'UTR|UTY_uc022cns.1_Missense_Mutation_p.V176A|UTY_uc022cnt.1_5'UTR|UTY_uc022cnu.1_Missense_Mutation_p.V176A|UTY_uc022cnv.1_Missense_Mutation_p.V176A|UTY_uc022cnw.1_Missense_Mutation_p.V176A|UTY_uc022cnx.1_5'UTR|UTY_uc022cny.1_Intron|UTY_uc022cnz.1_Non-coding_Transcript|UTY_uc022coa.1_Missense_Mutation_p.V176A|UTY_uc022cob.1_5'UTR|UTY_uc022coc.1_5'UTR|UTY_uc022cod.1_5'UTR	NM_007125	NP_009056	O14607	UTY_HUMAN	Homo sapiens ubiquitously transcribed tetratricopeptide repeat gene, Y-linked (UTY), transcript variant 3, mRNA.	176					chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(6)	7						GTCTGTGTTCACTTTGAACAT	0.413													18	29					0	0	1	0	0	G	15522901	A	G	15522901	3	3	198	1	0	0	0	0	1	0	0	0	17104	159	6	3	3871	3	UTY	24	15522901	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08		15522901	43850665	148	8611											
ATAD3C	219293	broad.mit.edu	37	chr1	1386075	1386075	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggccatgtcaaaggaCgccctgaatctggcgcagat	10	7	12	12	2	2	2	1	1	1	1	2	3	2	3	2	3	1	2	2	3	2	0			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr1:1386075C>T	uc001aft.2	+	0	1007	c.12C>T	c.(10-12)gaC>gaT	p.D4D		NM_001039211	NP_001034300	Q5T2N8	ATD3C_HUMAN	Homo sapiens ATPase family, AAA domain containing 3C (ATAD3C), mRNA.	4							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGTCAAAGGACGCCCTGAATC	0.642													4	18					0	0	1	0	0	T	1386075	C	T	1386075	2	4	199	1	0	0	0	0	0	0	0	1	1075	535	19	1		1	ATAD3C	1	1386075	Silent	SNP	C	TCGA-HT-7689-01A-11D-2253-08		1386075	247864546	1	8612											
VAV3	10451	broad.mit.edu	37	chr1	108507542	108507544	+	Splice_Site	DEL	GCC	GCC	-																															gggcgggcggcaaggatgcgGccgccgccgccgccgccgcg																								rs71796067		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr1:108507542_108507544delGCC	uc001dvk.1	-	1	1	c.-53_splice	c.e1-1		VAV3_uc010ouw.1_Splice_Site|VAV3_uc001dvl.1_5'Flank|VAV3_uc010oux.1_Splice_Site	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.						B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CAAGGATGCGgccgccgccgccg	0.773													2	4	---	---	---	---						-	108507544	GCC	-	108507542	8	5	199	1	0	1	0	1	0	0	1	0	17130	1218	42	0		0	VAV3	1	108507542	Splice_Site	DEL	GCC	TCGA-HT-7689-01A-11D-2253-08	107121467	108507542	140743079	2	8613											
OBSCN	84033	broad.mit.edu	37	chr1	228529180	228529180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggtggagggggatgacCgcgccttcgaggtgtggcag	7	6	19	9	3	0	1	0	1	0	0	1	4	0	3	3	6	0	1	3	6	0	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr1:228529180C>T	uc009xez.1	+	73	17943	c.17899C>T	c.(17899-17901)Cgc>Tgc	p.R5967C	OBSCN_uc001hsn.3_Missense_Mutation_p.R5967C|OBSCN_uc001hsr.1_Missense_Mutation_p.R596C	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5967	PH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGGGATGACCGCGCCTTCGA	0.637													12	21					0	0	1	0	0	T	228529180	C	T	228529180	3	4	199	1	0	0	0	0	1	0	0	0	10812	652	23	2	18189	2	OBSCN	1	228529180	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	120021638	228529180	20721441	3	8614											
EIF2B4	8890	broad.mit.edu	37	chr2	27591981	27591981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcctgcttggctcgacGctcagcccgaagttcggcct	4	9	12	16	4	1	0	1	0	0	0	4	2	2	0	4	3	2	4	4	3	1	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:27591981G>A	uc002rjz.3	-	2	409	c.370C>T	c.(370-372)Cgt>Tgt	p.R124C	EIF2B4_uc002rka.3_Missense_Mutation_p.R89C|EIF2B4_uc002rkb.3_Missense_Mutation_p.R104C|EIF2B4_uc002rkc.3_Missense_Mutation_p.R103C|EIF2B4_uc002rke.3_Missense_Mutation_p.R73C|EIF2B4_uc002rkf.1_Missense_Mutation_p.R73C|SNX17_uc010ylj.1_5'Flank|SNX17_uc002rki.1_5'Flank|SNX17_uc002rkh.1_5'Flank|SNX17_uc010yll.1_5'Flank|SNX17_uc010ylm.1_5'Flank|SNX17_uc010yln.1_5'Flank|SNX17_uc010ylo.1_5'Flank|SNX17_uc010ylp.1_5'Flank|SNX17_uc002rkg.1_5'Flank|SNX17_uc010ylk.1_5'Flank|SNX17_uc010eza.1_5'Flank|SNX17_uc010ylq.1_5'Flank	NM_172195	NP_751945	Q9UI10	EI2BD_HUMAN	Homo sapiens eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa (EIF2B4), transcript variant 1, mRNA.	104					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGCTCGACGCTCAGCCCGA	0.602													59	108					0	0	1	0	0	A	27591981	G	A	27591981	3	1	199	1	0	0	0	0	1	0	0	0	5003	1087	38	1	1301	1	EIF2B4	2	27591981	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08		27591981	215607392	4	8615											
PROKR1	10887	broad.mit.edu	37	chr2	68873428	68873428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgccctgctggccatcGccattgacaggtgagtgcag	8	8	12	13	1	0	2	0	2	0	0	1	2	0	2	4	2	3	2	4	2	1	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:68873428G>A	uc010yqj.2	+	0	635	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	PROKR1_uc002ses.3_Non-coding_Transcript	NM_138964	NP_620414	Q8TCW9	PKR1_HUMAN	Homo sapiens prokineticin receptor 1 (PROKR1), mRNA.	159						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCTGGCCATCGCCATTGACAG	0.592													20	95					0	0	1	0	0	A	68873428	G	A	68873428	3	1	199	1	0	0	0	0	1	0	0	0	12552	1087	38	1	477	1	PROKR1	2	68873428	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	41281447	68873428	174325945	5	8616											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								30	72					0	0	1	0	0	T	209113112	C	T	209113112	3	4	199	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	140239684	209113112	34086261	6	8617											
MLPH	79083	broad.mit.edu	37	chr2	238449504	238449504	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcccccaggaccctggggaCcccgtccagtacaacaggac	10	3	11	17	1	0	0	0	0	0	0	1	3	1	3	6	4	3	1	6	4	2	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:238449504C>T	uc002vwt.3	+	10	1577	c.1350C>T	c.(1348-1350)gaC>gaT	p.D450D	MLPH_uc002vws.3_Silent_p.D307D|MLPH_uc010fyt.1_Silent_p.D422D|MLPH_uc002vwu.3_Silent_p.D422D|MLPH_uc002vwv.3_Intron|MLPH_uc002vww.3_Intron|MLPH_uc002vwx.3_Silent_p.D306D	NM_024101	NP_077006	Q9BV36	MELPH_HUMAN	Homo sapiens melanophilin (MLPH), transcript variant 1, mRNA.	450							metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		ACCCTGGGGACCCCGTCCAGT	0.607													8	24					0	0	1	0	0	T	238449504	C	T	238449504	2	4	199	1	0	0	0	0	0	0	0	1	9633	506	18	3		3	MLPH	2	238449504	Silent	SNP	C	TCGA-HT-7689-01A-11D-2253-08	29336392	238449504	4749869	7	8618											
RAB17	64284	broad.mit.edu	37	chr2	238483770	238483770	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttctctgcagtagctcttgGgctgtgaacagcaagaggag	9	10	13	9	0	2	2	0	1	2	1	3	3	2	3	0	2	4	5	0	2	3	3			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:238483770G>A	uc002vwz.2	-	6	1193	c.530_splice	c.e6-1	p.A177_splice	RAB17_uc002vxb.2_Splice_Site	NM_022449	NP_071894	Q9H0T7	RAB17_HUMAN	Homo sapiens RAB17, member RAS oncogene family (RAB17), transcript variant 1, mRNA.	177					protein transport|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		GTAGCTCTTGGGCTGTGAACA	0.667													16	31					0	0	1	0	0	A	238483770	G	A	238483770	5	1	199	1	0	0	0	0	0	0	1	0	12902	1246	43	3	111	3	RAB17	2	238483770	Splice_Site	SNP	G	TCGA-HT-7689-01A-11D-2253-08	34266	238483770	4715603	8	8619											
BSN	8927	broad.mit.edu	37	chr3	49692138	49692138	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgcagcccttggttatcAacctcaatgcccaggagcat	9	9	9	14	1	2	0	2	0	0	0	2	1	2	1	4	2	5	3	4	2	3	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr3:49692138A>T	uc003cxe.4	+	4	5263	c.5149A>T	c.(5149-5151)Aac>Tac	p.N1717Y		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1717					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTTGGTTATCAACCTCAATGC	0.567													10	261					0	0	1	0	0	T	49692138	A	T	49692138	3	4	199	1	0	0	0	0	1	0	0	0	1530	130	5	5	5167	5	BSN	3	49692138	Missense_Mutation	SNP	A	TCGA-HT-7689-01A-11D-2253-08		49692138	148330292	9	8620											
ITIH4	3700	broad.mit.edu	37	chr3	52850942	52850942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctccttccacttgtacgcaGagcttcttcggttccgagtc	5	14	8	14	3	2	1	0	0	2	1	7	2	4	1	3	1	2	4	3	1	1	6			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr3:52850942G>A	uc011bem.2	-	20	2472	c.2444C>T	c.(2443-2445)tCt>tTt	p.S815F	ITIH4_uc011bel.2_Missense_Mutation_p.S524F|ITIH4_uc003dfy.3_Missense_Mutation_p.S605F|ITIH4_uc003dfz.3_Missense_Mutation_p.S810F|ITIH4_uc011ben.2_Missense_Mutation_p.S780F	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA.	810					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTTGTACGCAGAGCTTCTTCG	0.577													32	212					0	0	1	0	0	A	52850942	G	A	52850942	3	1	199	1	0	0	0	0	1	0	0	0	7906	942	33	3	379	3	ITIH4	3	52850942	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	3158804	52850942	145171488	10	8621											
PPP2R3A	5523	broad.mit.edu	37	chr3	135825112	135825112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggaccggtttgccgctgagGagtatgagacgcttgttgca	7	10	16	8	3	0	2	0	2	0	1	0	5	0	4	2	3	2	6	2	3	1	4			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr3:135825112G>A	uc003eqv.2	+	12	3894	c.3277G>A	c.(3277-3279)Gag>Aag	p.E1093K	PPP2R3A_uc011blz.2_Missense_Mutation_p.E357K|PPP2R3A_uc003eqw.2_Missense_Mutation_p.E472K	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', alpha (PPP2R3A), transcript variant 1, mRNA.	1093					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGCCGCTGAGGAGTATGAGAC	0.463													28	58					0	0	1	0	0	A	135825112	G	A	135825112	3	1	199	1	0	0	0	0	1	0	0	0	12388	1175	41	3	3459	3	PPP2R3A	3	135825112	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	82974170	135825112	62197318	11	8622											
ATR	545	broad.mit.edu	37	chr3	142224106	142224106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctaattgcactgactcCggccactccatcaggttcat	8	13	6	14	1	3	1	2	1	1	0	5	1	5	1	3	2	1	2	3	2	1	4			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr3:142224106C>T	uc003eux.4	-	28	5193	c.5071G>A	c.(5071-5073)Gga>Aga	p.G1691R		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	1691	FAT.				DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GCACTGACTCCGGCCACTCCA	0.388								Other conserved DNA damage response genes					29	229					0	0	1	0	0	T	142224106	C	T	142224106	3	4	199	1	0	0	0	0	1	0	0	0	1204	661	23	2	2939	2	ATR	3	142224106	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	6398994	142224106	55798324	12	8623											
DRD5	1816	broad.mit.edu	37	chr4	9784872	9784872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgtcttccacaaggaaatcGcagctgcctacatccacatg	11	9	7	14	2	1	0	0	0	1	0	5	1	3	1	3	1	3	2	3	1	3	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:9784872G>A	uc003gmb.4	+	0	1615	c.1219G>A	c.(1219-1221)Gca>Aca	p.A407T		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	407					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CAAGGAAATCGCAGCTGCCTA	0.582													4	68					0	0	1	0	0	A	9784872	G	A	9784872	3	1	199	1	0	0	0	0	1	0	0	0	4760	1087	38	1	1221	1	DRD5	4	9784872	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08		9784872	181369404	13	8624											
FAT4	79633	broad.mit.edu	37	chr4	126240610	126240610	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacctgtgaattctcgatTctttaaagtacaagcttctg	12	14	7	8	1	3	2	0	1	3	1	4	3	3	2	1	0	3	2	1	0	6	6			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:126240610T>C	uc003ifj.4	+	0	3044	c.3044T>C	c.(3043-3045)tTc>tCc	p.F1015S		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1015	Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.F1015F(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AATTCTCGATTCTTTAAAGTA	0.388													5	118					0	0	1	0	0	C	126240610	T	C	126240610	3	2	199	1	0	0	0	0	1	0	0	0	5692	1783	62	3	3046	3	FAT4	4	126240610	Missense_Mutation	SNP	T	TCGA-HT-7689-01A-11D-2253-08	116455738	126240610	64913666	14	8625											
SH3RF1	57630	broad.mit.edu	37	chr4	170043326	170043326	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggcctcggtcccattccaGcagcagcagcagcggcggtg	6	6	15	14	3	0	0	0	0	0	0	3	0	2	0	3	4	5	4	3	4	0	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:170043326G>A	uc003isa.1	-	6	1606	c.1271C>T	c.(1270-1272)gCt>gTt	p.A424V	SH3RF1_uc010irc.1_Missense_Mutation_p.A124V	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.	424	Poly-Ala.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TCCCATTCCAGCAGCAGCAGC	0.597													4	49					0	0	1	0	0	A	170043326	G	A	170043326	3	1	199	1	0	0	0	0	1	0	0	0	14258	971	34	3	1419	3	SH3RF1	4	170043326	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	43802716	170043326	21110950	15	8626											
HEATR7B2	133558	broad.mit.edu	37	chr5	41058222	41058222	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttcaggagccagggcacCtggcccagggcgtatccacg	7	6	15	13	2	1	0	1	0	0	0	2	1	2	1	4	5	1	3	4	5	1	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:41058222C>G	uc003jmj.4	-	6	1189	c.699G>C	c.(697-699)caG>caC	p.Q233H	HEATR7B2_uc003jmi.4_5'UTR|HEATR7B2_uc021xxt.1_Missense_Mutation_p.Q233H	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	233							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						GCCAGGGCACCTGGCCCAGGG	0.532													3	23					0	0	1	0	0	G	41058222	C	G	41058222	3	3	199	1	0	0	0	0	1	0	0	0	7035	680	24	5	4202	5	HEATR7B2	5	41058222	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08		41058222	139857038	16	8627											
HSD17B4	3295	broad.mit.edu	37	chr5	118829578	118829578	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccaatgactcctgaggcaGtcaaggctaactggaagaag	14	6	11	10	0	1	3	1	2	0	1	2	4	2	4	2	3	1	2	2	3	5	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:118829578G>C	uc003ksj.3	+	10	938	c.805G>C	c.(805-807)Gtc>Ctc	p.V269L	HSD17B4_uc011cwh.2_Missense_Mutation_p.V251L|HSD17B4_uc011cwg.2_Missense_Mutation_p.V245L|HSD17B4_uc011cwi.2_Missense_Mutation_p.V294L|HSD17B4_uc003ksk.4_Missense_Mutation_p.V122L|HSD17B4_uc011cwj.2_Missense_Mutation_p.V122L|HSD17B4_uc010jcn.2_5'UTR	NM_000414	NP_000405	P51659	DHB4_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 4 (HSD17B4), transcript variant 2, mRNA.	269	(3R)-hydroxyacyl-CoA dehydrogenase.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	TCCTGAGGCAGTCAAGGCTAA	0.473													5	62					0	0	1	0	0	C	118829578	G	C	118829578	3	2	199	1	0	0	0	0	1	0	0	0	7386	1029	36	5	847	5	HSD17B4	5	118829578	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	77771356	118829578	62085682	17	8628											
RAPGEF6	51735	broad.mit.edu	37	chr5	130825275	130825275	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacagtaagtgcaagatgagTattattcctcaaaatttcaa	16	12	6	7	0	2	2	2	1	0	1	3	2	3	2	1	0	1	3	1	0	7	5			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:130825275T>C	uc003kvn.2	-	14	2010	c.1804A>G	c.(1804-1806)Act>Gct	p.T602A	RAPGEF6_uc003kvp.2_Missense_Mutation_p.T652A|RAPGEF6_uc003kvo.2_Missense_Mutation_p.T602A|RAPGEF6_uc010jdi.2_Missense_Mutation_p.T602A|RAPGEF6_uc010jdj.2_Missense_Mutation_p.T602A|RAPGEF6_uc003kvq.3_Missense_Mutation_p.T319A|RAPGEF6_uc011cxe.2_Non-coding_Transcript|RAPGEF6_uc003kvr.3_Missense_Mutation_p.T602A|RAPGEF6_uc010jdk.3_Missense_Mutation_p.T602A	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	602	PDZ.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GCAAGATGAGTATTATTCCTC	0.269													7	13					0	0	1	0	0	C	130825275	T	C	130825275	3	2	199	1	0	0	0	0	1	0	0	0	13048	1638	57	3	3543	3	RAPGEF6	5	130825275	Missense_Mutation	SNP	T	TCGA-HT-7689-01A-11D-2253-08	11995697	130825275	50089985	18	8629											
PCDHAC2	56134	broad.mit.edu	37	chr5	140249832	140249832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgtgactcaggtgtcaacGgacaggtgacctgctcgctg	8	8	13	12	3	2	2	2	2	0	0	3	3	2	3	2	3	2	2	2	3	1	0			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:140249832G>A	uc003lia.2	+	0	2002	c.1144G>A	c.(1144-1146)Gga>Aga	p.G382R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.G382R	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	398	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGTCAACGGACAGGTGAC	0.602													16	113					0	0	1	0	0	A	140249832	G	A	140249832	3	1	199	1	0	0	0	0	1	0	0	0	11533	1117	39	2		2	PCDHAC2	5	140249832	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	9424557	140249832	40665428	19	8630											
FAT2	2196	broad.mit.edu	37	chr5	150924794	150924794	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcctgatcaaactgcaagCttttgtcaagcacttgggtc	10	12	8	11	0	2	1	2	1	0	0	4	1	3	1	1	1	4	3	1	1	3	3			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:150924794C>A	uc003lue.4	-	8	5907	c.5894G>T	c.(5893-5895)aGc>aTc	p.S1965I		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1965					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.K1964R(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAACTGCAAGCTTTTGTCAAG	0.483													7	40					0.307466	0.307466	1	1	0	A	150924794	C	A	150924794	3	1	199	1	0	0	0	0	1	0	0	0	5690	797	28	5	7215	5	FAT2	5	150924794	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	10674962	150924794	29990466	20	8631											
ITPR3	3710	broad.mit.edu	37	chr6	33656101	33656101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacggaggaaaccaagcaccGgctcttcaccactactgagc	12	5	10	14	2	2	1	1	1	1	0	2	4	2	3	3	3	4	2	3	3	3	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:33656101G>A	uc021ywr.1	+	47	6685	c.6461G>A	c.(6460-6462)cGg>cAg	p.R2154Q		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	2154					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	p.R2154W(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						ACCAAGCACCGGCTCTTCACC	0.597													46	105					0	0	1	0	0	A	33656101	G	A	33656101	3	1	199	1	0	0	0	0	1	0	0	0	7922	1116	39	2	6651	2	ITPR3	6	33656101	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08		33656101	137458966	21	8632											
SLC17A5	26503	broad.mit.edu	37	chr6	74354177	74354177	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcagaatgctctggacacgCcttggaagttctattatctt	10	13	9	9	1	3	1	0	0	3	1	3	3	3	3	1	2	2	3	1	2	4	5			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:74354177C>A	uc003phn.4	-	1	372	c.244G>T	c.(244-246)Gcg>Tcg	p.A82S	SLC17A5_uc010kay.3_Non-coding_Transcript|SLC17A5_uc011dyo.1_5'UTR	NM_012434	NP_036566	Q9NRA2	S17A5_HUMAN	Homo sapiens solute carrier family 17 (anion/sugar transporter), member 5 (SLC17A5), mRNA.	82					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCTGGACACGCCTTGGAAGTT	0.348													10	35					2.27111e-07	2.30834e-07	1	1	0	A	74354177	C	A	74354177	3	1	199	1	0	0	0	0	1	0	0	0	14420	739	26	5	1283	5	SLC17A5	6	74354177	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	40698076	74354177	96760890	22	8633											
ENPP3	5169	broad.mit.edu	37	chr6	131996232	131996232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttacagatgtggctgacaGcaatgtatcaaggtttaaaa	14	12	9	6	0	2	2	1	1	1	1	2	2	2	2	0	2	2	4	0	2	6	4			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:131996232G>A	uc003qcu.4	+	9	1122	c.775G>A	c.(775-777)Gca>Aca	p.A259T	ENPP3_uc010kfn.1_Non-coding_Transcript|ENPP3_uc011ecc.1_Missense_Mutation_p.A225T|ENPP3_uc010kfo.1_Non-coding_Transcript|ENPP3_uc010kfp.1_Non-coding_Transcript|ENPP3_uc003qcv.3_Missense_Mutation_p.A259T|ENPP3_uc010kfq.3_Non-coding_Transcript	NM_005021	NP_005012	O14638	ENPP3_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 3 (ENPP3), mRNA.	259	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GTGGCTGACAGCAATGTATCA	0.388													11	40					0	0	1	0	0	A	131996232	G	A	131996232	3	1	199	1	0	0	0	0	1	0	0	0	5131	971	34	3	809	3	ENPP3	6	131996232	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	57642055	131996232	39118835	23	8634											
REPS1	85021	broad.mit.edu	37	chr6	139266690	139266690	+	Frame_Shift_Del	DEL	T	T	-																															tatcatggcttacggatcccTttttcacttgccccctgcca																										TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:139266690delT	uc003qii.3	-	2	1001	c.422delA	c.(421-423)aagfs	p.K141fs	REPS1_uc003qig.4_Frame_Shift_Del_p.K141fs|REPS1_uc011edr.2_Frame_Shift_Del_p.K141fs|REPS1_uc003qij.3_Frame_Shift_Del_p.K141fs|REPS1_uc003qik.3_5'UTR	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA.	141						coated pit|plasma membrane	SH3 domain binding|calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TACGGATCCCTTTTTCACTTG	0.478													8	327	---	---	---	---						-	139266690	T	-	139266690	7	5	199	1	0	1	0	1	0	0	0	0	13228	1609	56	0	2040	0	REPS1	6	139266690	Frame_Shift_Del	DEL	T	TCGA-HT-7689-01A-11D-2253-08	7270458	139266690	31848377	24	8635											
TBP	6908	broad.mit.edu	37	chr6	170871043	170871043	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcaacagcagcagcagcagca	16	0	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	0			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:170871043G>A	uc003qxu.3	+	2	498	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TBP_uc011ehf.2_Silent_p.Q53Q|TBP_uc003qxt.3_Silent_p.Q73Q|TBP_uc011ehg.1_Silent_p.Q73Q	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	73	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q72del(3)|p.Q73Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcaacagcaacagcagc	0.562													3	17					0	0	1	0	0	A	170871043	G	A	170871043	2	1	199	1	0	0	0	0	0	0	0	1	15641	962	34	3		3	TBP	6	170871043	Silent	SNP	G	TCGA-HT-7689-01A-11D-2253-08	31604353	170871043	244024	25	8636											
ABCA13	154664	broad.mit.edu	37	chr7	48313892	48313892	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctaatcagtttcaaaatatTtggcttcatttaataacact	14	16	3	8	0	3	0	3	0	0	0	3	0	3	0	1	1	1	2	1	1	6	8			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr7:48313892T>G	uc003toq.2	+	16	4653	c.4629T>G	c.(4627-4629)atT>atG	p.I1543M	ABCA13_uc010kyr.2_Missense_Mutation_p.I1046M|ABCA13_uc022acp.1_Missense_Mutation_p.I42M	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	1543					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCAAAATATTTGGCTTCATT	0.299													6	56					0	0	1	0	0	G	48313892	T	G	48313892	3	3	199	1	0	0	0	0	1	0	0	0	31	1829	64	5	4524	5	ABCA13	7	48313892	Missense_Mutation	SNP	T	TCGA-HT-7689-01A-11D-2253-08		48313892	110824771	26	8637											
PTPRZ1	5803	broad.mit.edu	37	chr7	121679632	121679635	+	Frame_Shift_Del	DEL	AAAT	AAAT	-																															ttttactctaagaaacacaaAaataaaaaaggtgagtcaac																										TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr7:121679632_121679635delAAAT	uc003vjy.3	+	19	6022_6025	c.5627_5630delAAAT	c.(5626-5631)aaaatafs	p.K1876fs	PTPRZ1_uc011knt.2_Frame_Shift_Del_p.K1016fs|PTPRZ1_uc003vjz.3_Frame_Shift_Del_p.K1009fs	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	1876	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AGAAACACAAAAATAAAAAAGGTG	0.382													8	45	---	---	---	---						-	121679635	AAAT	-	121679632	7	5	199	1	0	1	0	1	0	0	0	0	12814	14	1	0	5705	0	PTPRZ1	7	121679632	Frame_Shift_Del	DEL	AAAT	TCGA-HT-7689-01A-11D-2253-08	73365740	121679632	37459031	27	8638											
ANK1	286	broad.mit.edu	37	chr8	41552258	41552258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatgatcacgaagtacagcGggaagtcggtggtgatgatt	12	9	14	6	3	1	3	1	3	0	0	2	5	1	4	0	3	2	1	0	3	3	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr8:41552258G>A	uc003xok.3	-	27	3263	c.3179C>T	c.(3178-3180)cCg>cTg	p.P1060L	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.P376L|ANK1_uc003xoi.3_Missense_Mutation_p.P1060L|ANK1_uc003xoj.3_Missense_Mutation_p.P1060L|ANK1_uc003xol.3_Missense_Mutation_p.P1060L|ANK1_uc003xom.3_Missense_Mutation_p.P1101L	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1060					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GAAGTACAGCGGGAAGTCGGT	0.602													12	66					0	0	1	0	0	A	41552258	G	A	41552258	3	1	199	1	0	0	0	0	1	0	0	0	620	1116	39	2	2852	2	ANK1	8	41552258	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08		41552258	104811764	28	8639											
ZNF484	83744	broad.mit.edu	37	chr9	95610656	95610656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgttaatgaagacaacaCgacttaaaggtttgttctgg	12	14	9	6	1	2	2	0	1	2	1	2	3	2	2	0	2	1	3	0	2	5	5	rs139334933		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr9:95610656C>T	uc004asu.1	-	4	562	c.413G>A	c.(412-414)cGt>cAt	p.R138H	ANKRD19P_uc004asr.4_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.R140H|ZNF484_uc004asv.1_Missense_Mutation_p.R102H|ZNF484_uc010mrb.1_Missense_Mutation_p.R102H	NM_031486	NP_001007102	Q5JVG2	ZN484_HUMAN	Homo sapiens zinc finger protein 484 (ZNF484), transcript variant 1, mRNA.	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R138C(2)		NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GAAGACAACACGACTTAAAGG	0.368													41	60					0	0	1	0	0	T	95610656	C	T	95610656	3	4	199	1	0	0	0	0	1	0	0	0	17934	536	19	1	2149	1	ZNF484	9	95610656	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08		95610656	45602775	29	8640											
LAMC3	10319	broad.mit.edu	37	chr9	133932363	133932363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacatccgcccggccagggCtttccccgccagcctcctgg	4	7	10	20	3	1	0	1	0	0	0	4	0	4	0	8	3	1	1	8	3	0	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr9:133932363C>T	uc004caa.1	+	11	2085	c.1987C>T	c.(1987-1989)Ctt>Ttt	p.L663F		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	663	Laminin IV type A.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCGGCCAGGGCTTTCCCCGCC	0.607													18	126					0	0	1	0	0	T	133932363	C	T	133932363	3	4	199	1	0	0	0	0	1	0	0	0	8616	797	28	3	2033	3	LAMC3	9	133932363	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	38321707	133932363	7281068	30	8641											
NEURL	9148	broad.mit.edu	37	chr10	105349295	105349295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cactatcctggccgagcgggGtatcccatcactcccctgct	6	9	9	17	2	1	0	1	0	0	0	4	1	4	0	5	3	2	2	5	3	2	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr10:105349295G>A	uc001kxh.3	+	4	1774	c.1364G>A	c.(1363-1365)gGt>gAt	p.G455D	SH3PXD2A_uc010qqr.2_Intron|NEURL_uc021pxn.1_Missense_Mutation_p.G438D	NM_004210	NP_004201	O76050	NEU1A_HUMAN	Homo sapiens neuralized homolog (Drosophila) (NEURL), mRNA.	455					nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		GCCGAGCGGGGTATCCCATCA	0.652													11	112					0	0	1	0	0	A	105349295	G	A	105349295	3	1	199	1	0	0	0	0	1	0	0	0	10345	1261	44	3	1382	3	NEURL	10	105349295	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08		105349295	30185452	31	8642											
NRAP	4892	broad.mit.edu	37	chr10	115380449	115380449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcctttcatccacttcaCatctgccctgtattggttct	6	16	5	14	0	4	0	2	0	2	0	5	0	5	0	3	1	2	2	3	1	1	5			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr10:115380449C>T	uc001lal.3	-	24	2952	c.2788G>A	c.(2788-2790)Gtg>Atg	p.V930M	NRAP_uc009xyb.3_Intron|NRAP_uc001laj.3_Missense_Mutation_p.V930M|NRAP_uc001lak.3_Missense_Mutation_p.V895M	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	930						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ATCCACTTCACATCTGCCCTG	0.478													28	165					0	0	1	0	0	T	115380449	C	T	115380449	3	4	199	1	0	0	0	0	1	0	0	0	10638	478	17	3	2476	3	NRAP	10	115380449	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	10031154	115380449	20154298	32	8643											
OR4A16	81327	broad.mit.edu	37	chr11	55110739	55110740	+	Frame_Shift_Ins	INS	-	-	A																															tcactcaagatcctgatgtgINSaaaaaaacattatttgtcat																								rs77509752		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:55110739_55110740insA	uc010rie.2	+	0	63_64	c.63_64insA	c.(61-66)gtgaaafs	p.V21fs		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V21V(2)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATCCTGATGTGAAAAAAACATT	0.416													18	62	---	---	---	---						A	55110740	-	A	55110739	7	5	199	1	0	1	1	0	0	0	0	0	11041	1277	45	0	65	0	OR4A16	11	55110739	Frame_Shift_Ins	INS	-	TCGA-HT-7689-01A-11D-2253-08		55110739	79895777	33	8644											
PLAC1L	219990	broad.mit.edu	37	chr11	59810975	59810975	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctggactggttgatggTctcagttatcccagttgcag	6	14	11	10	0	2	1	1	1	2	0	5	2	3	2	1	3	1	4	1	3	1	3			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:59810975T>A	uc001nol.3	+	1	283	c.98T>A	c.(97-99)gTc>gAc	p.V33D		NM_173801	NP_776162	Q86WS3	PLACL_HUMAN	Homo sapiens placenta-specific 1-like (PLAC1L), mRNA.	33				V -> A (in Ref. 1; BAC04191).		extracellular region				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						TGGTTGATGGTCTCAGTTATC	0.393													9	41					0	0	1	0	0	A	59810975	T	A	59810975	3	1	199	1	0	0	0	0	1	0	0	0	12013	1667	58	5	104	5	PLAC1L	11	59810975	Missense_Mutation	SNP	T	TCGA-HT-7689-01A-11D-2253-08	4700236	59810975	75195541	34	8645											
EXPH5	23086	broad.mit.edu	37	chr11	108380864	108380864	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaactctttgaacgatagagGtgtggctcaggttcccactc	10	11	10	10	1	2	2	1	1	1	1	4	3	3	2	1	3	2	2	1	3	3	3			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:108380864G>T	uc001pkk.3	-	5	5481	c.5370C>A	c.(5368-5370)caC>caA	p.H1790Q	EXPH5_uc010rvz.2_Missense_Mutation_p.H1634Q|EXPH5_uc010rvy.2_Missense_Mutation_p.H1602Q	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1790					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AACGATAGAGGTGTGGCTCAG	0.463													13	123					2.48551e-13	2.56836e-13	1	1	0	T	108380864	G	T	108380864	3	4	199	1	0	0	0	0	1	0	0	0	5322	1252	44	5	603	5	EXPH5	11	108380864	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	48569889	108380864	26625652	35	8646											
ARHGEF12	23365	broad.mit.edu	37	chr11	120355176	120355176	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaaagttacaccattctttgCcaaaggctggctggatcagc	11	10	10	10	0	2	0	1	0	1	0	2	2	2	1	2	3	3	3	2	3	3	3			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:120355176C>T	uc001pxl.2	+	39	4919	c.4584C>T	c.(4582-4584)tgC>tgT	p.C1528C	ARHGEF12_uc009zat.3_Silent_p.C1509C|ARHGEF12_uc009zau.1_Silent_p.C1425C	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA.	1528					G-protein coupled receptor protein signaling pathway|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CCATTCTTTGCCAAAGGCTGG	0.378			T	MLL	AML								5	92					0	0	1	0	0	T	120355176	C	T	120355176	2	4	199	1	0	0	0	0	0	0	0	1	897	747	26	3		3	ARHGEF12	11	120355176	Silent	SNP	C	TCGA-HT-7689-01A-11D-2253-08	11974312	120355176	14651340	36	8647											
PYROXD1	79912	broad.mit.edu	37	chr12	21615672	21615672	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttatgaggaatgttgtttAgtttgatctaggagaagatg	11	15	13	2	0	1	4	0	2	1	2	1	6	1	5	0	2	0	4	0	2	5	6			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr12:21615672A>G	uc001rew.3	+	10	1121	c.994_splice	c.e10-2	p.F332_splice	PYROXD1_uc009ziq.3_Splice_Site_p.F73_splice	NM_024854	NP_079130	Q8WU10	PYRD1_HUMAN	Homo sapiens pyridine nucleotide-disulphide oxidoreductase domain 1 (PYROXD1), mRNA.	332							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						AATGTTGTTTAGTTTGATCTA	0.373													20	70					0	0	1	0	0	G	21615672	A	G	21615672	5	3	199	1	0	0	0	0	0	0	1	0	12866	434	15	4	1030	4	PYROXD1	12	21615672	Splice_Site	SNP	A	TCGA-HT-7689-01A-11D-2253-08		21615672	112236223	37	8648											
KIF21A	55605	broad.mit.edu	37	chr12	39761740	39761740	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacagtataaattcctccaGttgaatcttcatgaattctt	12	15	4	10	0	3	2	1	2	2	0	5	2	5	2	3	0	0	2	3	0	5	7			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr12:39761740G>C	uc001rly.3	-	3	965	c.545C>G	c.(544-546)aCt>aGt	p.T182S	KIF21A_uc001rlx.3_Missense_Mutation_p.T182S|KIF21A_uc001rlz.3_Missense_Mutation_p.T182S|KIF21A_uc010skl.2_Missense_Mutation_p.T182S	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	182	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AATTCCTCCAGTTGAATCTTC	0.313													17	171					0	0	1	0	0	C	39761740	G	C	39761740	3	2	199	1	0	0	0	0	1	0	0	0	8288	1029	36	5	4619	5	KIF21A	12	39761740	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	18146068	39761740	94090155	38	8649											
CSRP2	1466	broad.mit.edu	37	chr12	77253345	77253347	+	In_Frame_Del	DEL	CTT	CTT	-																															acctttacaatagatttcacCttctttttcagtcagagttg																										TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr12:77253345_77253347delCTT	uc001syl.1	-	4	568_570	c.485_487delAAG	c.(484-489)gaaggt>ggt	p.E162del		NM_001321	NP_001312	Q16527	CSRP2_HUMAN	Homo sapiens cysteine and glycine-rich protein 2 (CSRP2), mRNA.	162	LIM zinc-binding 2.				multicellular organismal development	nucleus	zinc ion binding			kidney(1)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)	8						TAGATTTCACCTTCTTTTTCAGT	0.374													9	25	---	---	---	---						-	77253347	CTT	-	77253345	7	5	199	1	0	1	0	1	0	0	0	0	3967	681	24	0	102	0	CSRP2	12	77253345	In_Frame_Del	DEL	CTT	TCGA-HT-7689-01A-11D-2253-08	37491605	77253345	56598550	39	8650											
RILPL1	353116	broad.mit.edu	37	chr12	123983204	123983204	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttggtctgcaggtctgcctCcagctccaccttctgttcga	4	13	9	15	1	3	0	0	0	3	0	6	1	5	0	4	2	3	3	4	2	0	3			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr12:123983204C>T	uc001ufe.2	-	3	924	c.688G>A	c.(688-690)Gag>Aag	p.E230K	RILPL1_uc001ufd.2_Missense_Mutation_p.E79K|RILPL1_uc010tas.1_Missense_Mutation_p.E230K	NM_178314	NP_847884	Q5EBL4	RIPL1_HUMAN	Homo sapiens Rab interacting lysosomal protein-like 1 (RILPL1), mRNA.	230					neuroprotection	cytosol				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		AGGTCTGCCTCCAGCTCCACC	0.627													34	141					0	0	1	0	0	T	123983204	C	T	123983204	3	4	199	1	0	0	0	0	1	0	0	0	13361	864	30	3	539	3	RILPL1	12	123983204	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	46729859	123983204	9868691	40	8651											
KCNK13	56659	broad.mit.edu	37	chr14	90650849	90650849	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accattggctttggggacctGgtcagcagccagaacgccca	9	7	12	13	1	1	1	1	0	0	1	1	2	1	2	4	4	3	2	4	4	1	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr14:90650849G>A	uc001xye.1	+	1	1171	c.729G>A	c.(727-729)ctG>ctA	p.L243L		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	243						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TTGGGGACCTGGTCAGCAGCC	0.532													19	33					0	0	1	0	0	A	90650849	G	A	90650849	2	1	199	1	0	0	0	0	0	0	0	1	8061	1335	47	3		3	KCNK13	14	90650849	Silent	SNP	G	TCGA-HT-7689-01A-11D-2253-08		90650849	16698691	41	8652											
DMXL2	23312	broad.mit.edu	37	chr15	51766595	51766595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaagttttacaccgcctcCaaaaacagcagcccacattc	15	7	4	15	1	0	0	0	0	0	0	2	0	1	0	4	0	5	2	4	0	5	3			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr15:51766595C>T	uc010ufy.2	-	27	7384	c.7159G>A	c.(7159-7161)Gga>Aga	p.G2387R	DMXL2_uc002abd.3_Missense_Mutation_p.G457R|DMXL2_uc002abf.3_Missense_Mutation_p.G2386R|DMXL2_uc010bfa.3_Missense_Mutation_p.G1750R	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	2386						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ACACCGCCTCCAAAAACAGCA	0.368													8	87					0	0	1	0	0	T	51766595	C	T	51766595	3	4	199	1	0	0	0	0	1	0	0	0	4595	603	21	3	2018	3	DMXL2	15	51766595	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08		51766595	50764797	42	8653											
MTFMT	123263	broad.mit.edu	37	chr15	65312542	65312542	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccttcactcaccgtaagtCgccccctccattggctgctg	6	10	8	17	2	2	0	2	0	0	0	4	0	3	0	5	1	2	3	5	1	1	3			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr15:65312542C>T	uc002aof.4	-	4	740	c.714G>A	c.(712-714)gcG>gcA	p.A238A		NM_139242	NP_640335	Q96DP5	FMT_HUMAN	Homo sapiens mitochondrial methionyl-tRNA formyltransferase (MTFMT), nuclear gene encoding mitochondrial protein, mRNA.	238						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	CACCGTAAGTCGCCCCCTCCA	0.413													4	24					0	0	1	0	0	T	65312542	C	T	65312542	2	4	199	1	0	0	0	0	0	0	0	1	9924	871	31	2		2	MTFMT	15	65312542	Silent	SNP	C	TCGA-HT-7689-01A-11D-2253-08	13545947	65312542	37218850	43	8654											
SRCAP	10847	broad.mit.edu	37	chr16	30732740	30732740	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccaccacagcagtgccagctCcgactcctgcaccacagcgc	9	4	8	20	2	0	0	0	0	0	0	2	1	2	0	6	0	5	3	6	0	0	0			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr16:30732740C>G	uc002dze.1	+	20	3869	c.3484C>G	c.(3484-3486)Ccg>Gcg	p.P1162A	SRCAP_uc021tgn.1_Missense_Mutation_p.P1162A|SRCAP_uc002dzf.3_Intron|SRCAP_uc002dzg.1_Missense_Mutation_p.P1019A	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1162	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGTGCCAGCTCCGACTCCTGC	0.612													32	80					0	0	1	0	0	G	30732740	C	G	30732740	3	3	199	1	0	0	0	0	1	0	0	0	15134	855	30	5	3558	5	SRCAP	16	30732740	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08		30732740	59622013	44	8655											
SRCAP	10847	broad.mit.edu	37	chr16	30734516	30734516	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actctggtgaggcctcttctCaagctggtccacagtccttc	6	12	9	14	0	3	1	1	1	3	0	7	1	5	1	3	3	1	1	3	3	1	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr16:30734516C>G	uc002dze.1	+	23	4510	c.4125C>G	c.(4123-4125)ctC>ctG	p.L1375L	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Silent_p.L1170L	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1375	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.L1375L(2)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGCCTCTTCTCAAGCTGGTCC	0.602													70	164					0	0	1	0	0	G	30734516	C	G	30734516	2	3	199	1	0	0	0	0	0	0	0	1	15134	813	29	5		5	SRCAP	16	30734516	Silent	SNP	C	TCGA-HT-7689-01A-11D-2253-08	1776	30734516	59620237	45	8656											
C16orf46	123775	broad.mit.edu	37	chr16	81094882	81094882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcctgttttcctgcttggCctttgggagaacatgctttc	4	15	12	10	0	0	1	0	0	0	1	2	2	1	1	3	3	3	3	3	3	1	5			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr16:81094882C>T	uc002fgc.4	-	3	1331	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T	C16orf46_uc010chf.3_Missense_Mutation_p.A358T|C16orf46_uc010vno.2_Missense_Mutation_p.A85T	NM_152337	NP_689550	Q6P387	CP046_HUMAN	Homo sapiens chromosome 16 open reading frame 46 (C16orf46), transcript variant 2, mRNA.	358										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						TCCTGCTTGGCCTTTGGGAGA	0.498													12	113					0	0	1	0	0	T	81094882	C	T	81094882	3	4	199	1	0	0	0	0	1	0	0	0	1815	739	26	3	147	3	C16orf46	16	81094882	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	50360366	81094882	9259871	46	8657											
PITPNM3	83394	broad.mit.edu	37	chr17	6381927	6381927	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgtagacctggttggcTcgctcgatgacggtggcgac	5	11	14	11	4	1	2	0	1	1	1	4	4	1	2	1	4	0	4	1	4	1	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr17:6381927T>A	uc002gdd.4	-	6	868	c.717A>T	c.(715-717)cgA>cgT	p.R239R	PITPNM3_uc010cln.3_Silent_p.R203R|PITPNM3_uc002gdc.4_5'UTR	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA.	239					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CCTGGTTGGCTCGCTCGATGA	0.632													10	50					0	0	1	0	0	A	6381927	T	A	6381927	2	1	199	1	0	0	0	0	0	0	0	1	11952	1538	54	5		5	PITPNM3	17	6381927	Silent	SNP	T	TCGA-HT-7689-01A-11D-2253-08		6381927	74813283	47	8658											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			18	9					0	0	1	0	0	A	7577121	G	A	7577121	3	1	199	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	1195194	7577121	73618089	48	8659											
SGSH	6448	broad.mit.edu	37	chr17	78184761	78184761	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcttcgagccaaagatggcGtagctggggtacgggatcga	9	8	16	8	4	1	1	0	0	1	1	3	4	1	2	1	4	3	3	1	4	3	3	rs149139346	byFrequency	TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr17:78184761G>A	uc002jxz.4	-	7	1086	c.999C>T	c.(997-999)taC>taT	p.Y333Y	SGSH_uc002jya.4_Silent_p.Y130Y|SGSH_uc002jxy.2_3'UTR	NM_000199	NP_000190	P51688	SPHM_HUMAN	Homo sapiens N-sulfoglucosamine sulfohydrolase (SGSH), mRNA.	333					proteoglycan metabolic process	lysosome	N-sulfoglucosamine sulfohydrolase activity|metal ion binding|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CAAAGATGGCGTAGCTGGGGT	0.652													4	80					0	0	1	0	0	A	78184761	G	A	78184761	2	1	199	1	0	0	0	0	0	0	0	1	14221	1140	40	1		1	SGSH	17	78184761	Silent	SNP	G	TCGA-HT-7689-01A-11D-2253-08	70607640	78184761	3010449	49	8660											
MUC16	94025	broad.mit.edu	37	chr19	9087885	9087885	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccagtgttagtctctccAggagctgtcatctcaggtga	8	12	10	11	0	3	1	2	1	2	0	6	2	4	2	2	2	2	2	2	2	2	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr19:9087885A>G	uc002mkp.3	-	0	4134	c.3930T>C	c.(3928-3930)ccT>ccC	p.P1310P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1310	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGTCTCTCCAGGAGCTGTCA	0.507													4	62					0	0	1	0	0	G	9087885	A	G	9087885	2	3	199	1	0	0	0	0	0	0	0	1	9973	175	7	4		4	MUC16	19	9087885	Silent	SNP	A	TCGA-HT-7689-01A-11D-2253-08		9087885	50041098	50	8661											
MUC16	94025	broad.mit.edu	37	chr19	9089322	9089322	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtgctaggactctctgaCgattctgaagtcagtgtccc	9	11	11	10	1	3	3	1	2	2	1	5	5	4	4	1	1	1	1	1	1	2	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr19:9089322C>T	uc002mkp.3	-	0	2697	c.2493G>A	c.(2491-2493)tcG>tcA	p.S831S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	831	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACTCTCTGACGATTCTGAAG	0.498													40	217					0	0	1	0	0	T	9089322	C	T	9089322	2	4	199	1	0	0	0	0	0	0	0	1	9973	523	19	1		1	MUC16	19	9089322	Silent	SNP	C	TCGA-HT-7689-01A-11D-2253-08	1437	9089322	50039661	51	8662											
DOCK6	57572	broad.mit.edu	37	chr19	11347158	11347158	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccgcagctcctgctccacGttgccctcgctcagcacagt	5	8	9	19	3	1	0	1	0	0	0	4	0	3	0	4	0	4	6	4	0	0	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr19:11347158G>A	uc002mqs.4	-	19	2297	c.2256C>T	c.(2254-2256)aaC>aaT	p.N752N	DOCK6_uc010xlq.2_Silent_p.N56N|C19orf80_uc021upf.1_5'Flank|C19orf80_uc010dxw.3_5'Flank	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	752	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCTGCTCCACGTTGCCCTCGC	0.647													3	9					0	0	1	0	0	A	11347158	G	A	11347158	2	1	199	1	0	0	0	0	0	0	0	1	4691	1136	40	1		1	DOCK6	19	11347158	Silent	SNP	G	TCGA-HT-7689-01A-11D-2253-08	2257836	11347158	47781825	52	8663											
JAG1	182	broad.mit.edu	37	chr20	10624439	10624439	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttacttattctgcagtcGggcccagcaaaacccggggc	8	9	10	14	2	1	0	0	0	1	0	3	0	2	0	3	3	4	2	3	3	4	3			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr20:10624439G>A	uc002wnw.2	-	19	2961	c.2445C>T	c.(2443-2445)ccC>ccT	p.P815P	JAG1_uc010gcd.1_Silent_p.P373P	NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	815	EGF-like 15; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding|growth factor activity|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TTCTGCAGTCGGGCCCAGCAA	0.498									Alagille Syndrome				19	39					0	0	1	0	0	A	10624439	G	A	10624439	2	1	199	1	0	0	0	0	0	0	0	1	7934	1103	39	2		2	JAG1	20	10624439	Silent	SNP	G	TCGA-HT-7689-01A-11D-2253-08		10624439	52401081	53	8664											
SPTLC3	55304	broad.mit.edu	37	chr20	13134724	13134724	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcaggaaatgggattcattAtctatggcaatgagaatgct	13	12	11	5	0	2	1	1	1	1	1	2	4	2	3	0	3	2	3	0	3	5	3			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr20:13134724A>G	uc002wod.1	+	9	1643	c.1354A>G	c.(1354-1356)Atc>Gtc	p.I452V		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	452					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GGGATTCATTATCTATGGCAA	0.428													7	54					0	0	1	0	0	G	13134724	A	G	13134724	3	3	199	1	0	0	0	0	1	0	0	0	15124	449	16	3	1392	3	SPTLC3	20	13134724	Missense_Mutation	SNP	A	TCGA-HT-7689-01A-11D-2253-08	2510285	13134724	49890796	54	8665											
SEL1L2	80343	broad.mit.edu	37	chr20	13912352	13912352	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agattttctcttttattgatTacattactagatgttctttg	9	22	5	5	0	2	3	0	1	2	2	3	3	2	3	0	0	2	1	0	0	4	10			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr20:13912352T>G	uc010gcf.3	-	2	262	c.180A>C	c.(178-180)gtA>gtC	p.V60V	SEL1L2_uc002woq.4_5'UTR|SEL1L2_uc010zrl.2_Silent_p.V60V|SEL1L2_uc002wor.3_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.	60						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TTTTATTGATTACATTACTAG	0.274													3	34					0	0	1	0	0	G	13912352	T	G	13912352	2	3	199	1	0	0	0	0	0	0	0	1	14011	1741	61	5		5	SEL1L2	20	13912352	Silent	SNP	T	TCGA-HT-7689-01A-11D-2253-08	777628	13912352	49113168	55	8666											
GDPD2	54857	broad.mit.edu	37	chrX	69652260	69652260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggattcggtcaccaccaacGactgccagctgctgcagcag	9	7	11	14	2	1	0	1	0	0	0	2	2	1	1	3	2	6	4	3	2	1	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:69652260G>A	uc011mpk.2	+	13	1925	c.1564G>A	c.(1564-1566)Gac>Aac	p.D522N	GDPD2_uc010nky.2_3'UTR|GDPD2_uc004dyh.3_Missense_Mutation_p.D471N|GDPD2_uc011mpl.2_Missense_Mutation_p.D392N|GDPD2_uc011mpm.2_Missense_Mutation_p.D392N	NM_001171192	NP_001164663	Q9HCC8	GDPD2_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 2 (GDPD2), transcript variant 1, mRNA.	471					glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					CACCACCAACGACTGCCAGCT	0.512													49	106					0	0	1	0	0	A	69652260	G	A	69652260	3	1	199	1	0	0	0	0	1	0	0	0	6324	1058	37	2	1614	2	GDPD2	23	69652260	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08		69652260	85618300	56	8667											
ATRX	546	broad.mit.edu	37	chrX	76939638	76939639	+	Frame_Shift_Ins	INS	-	-	T																															cctgctttaaaaatttaacaINStaactggagttcatgttggc																										TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:76939638_76939639insT	uc004ecp.4	-	8	1341_1342	c.1109_1110insA	c.(1108-1110)tatfs	p.Y370fs	ATRX_uc004ecq.4_Frame_Shift_Ins_p.Y332fs|ATRX_uc004eco.4_Frame_Shift_Ins_p.Y155fs|ATRX_uc004ecr.2_Frame_Shift_Ins_p.Y331fs|ATRX_uc010nlx.1_Frame_Shift_Ins_p.Y370fs|ATRX_uc010nly.1_Frame_Shift_Ins_p.Y315fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	370					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AAAATTTAACATAACTGGAGTT	0.371			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						64	130	---	---	---	---						T	76939639	-	T	76939638	7	5	199	1	0	1	1	0	0	0	0	0	1208	224	8	0	6476	0	ATRX	23	76939638	Frame_Shift_Ins	INS	-	TCGA-HT-7689-01A-11D-2253-08	7287378	76939638	78330922	57	8668											
MCTS1	28985	broad.mit.edu	37	chrX	119739938	119739938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacatttgtcttacagccatGaacatatagaaatccttaca	15	12	5	9	0	1	2	0	1	1	1	2	3	2	2	2	0	4	0	2	0	6	5			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:119739938G>A	uc004esx.3	+	2	517	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	MCTS1_uc011mub.2_Missense_Mutation_p.E58K|MCTS1_uc022cdn.1_Missense_Mutation_p.E14K	NM_014060	NP_054779	Q9ULC4	MCTS1_HUMAN	Homo sapiens malignant T cell amplified sequence 1 (MCTS1), transcript variant 1, mRNA.	57					cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm	RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1)	10						TTACAGCCATGAACATATAGA	0.299													4	50					0	0	1	0	0	A	119739938	G	A	119739938	3	1	199	1	0	0	0	0	1	0	0	0	9402	1291	45	3	197	3	MCTS1	23	119739938	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	42800300	119739938	35530622	58	8669											
GRIA3	2892	broad.mit.edu	37	chrX	122538740	122538740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agagactaaaatatggaacgGcatggttggggaacttgtct	13	10	13	5	1	1	1	0	0	1	1	1	4	1	3	0	5	2	2	0	5	5	4			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:122538740G>A	uc004etq.4	+	9	1767	c.1475G>A	c.(1474-1476)gGc>gAc	p.G492D	GRIA3_uc004etr.4_Missense_Mutation_p.G492D|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.G476D	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	492					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	ATATGGAACGGCATGGTTGGG	0.378													31	242					0	0	1	0	0	A	122538740	G	A	122538740	3	1	199	1	0	0	0	0	1	0	0	0	6769	1203	42	3	1513	3	GRIA3	23	122538740	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	2798802	122538740	32731820	59	8670											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299120	125299120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggccagggcccgtaccttgCggttgctggggttggtgctg	3	10	18	10	2	0	0	0	0	0	0	0	0	0	0	3	6	4	5	3	6	1	4			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:125299120C>T	uc004euk.2	-	0	961	c.788G>A	c.(787-789)cGc>cAc	p.R263H		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	263										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCGTACCTTGCGGTTGCTGGG	0.637													5	54					0	0	1	0	0	T	125299120	C	T	125299120	3	4	199	1	0	0	0	0	1	0	0	0	4265	768	27	1	607	1	DCAF12L2	23	125299120	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	2760380	125299120	29971440	60	8671											
GABRA3	2556	broad.mit.edu	37	chrX	151336862	151336862	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctcagtcgggctgtcctgCacgtaggtggccttgggtga	4	11	16	10	2	1	1	1	1	1	0	4	1	2	1	2	4	1	3	2	4	1	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:151336862C>T	uc010ntk.1	-	9	1557	c.1317G>A	c.(1315-1317)gtG>gtA	p.V439V		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	439					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGCTGTCCTGCACGTAGGTGG	0.522													80	203					0	0	1	0	0	T	151336862	C	T	151336862	2	4	199	1	0	0	0	0	0	0	0	1	6162	697	25	3		3	GABRA3	23	151336862	Silent	SNP	C	TCGA-HT-7689-01A-11D-2253-08	26037742	151336862	3933698	61	8672											
SLC30A2	7780	broad.mit.edu	37	chr1	26371545	26371545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaggctacatacagctggcGctgggccttccccttcttgg	6	10	12	13	1	1	1	0	0	1	1	2	1	2	1	3	4	3	3	3	4	2	5			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr1:26371545G>A	uc001blg.1	-	1	431	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	SLC30A2_uc001blh.1_Missense_Mutation_p.R72C	NM_001004434	NP_001004434	Q9BRI3	ZNT2_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 2 (SLC30A2), transcript variant 1, mRNA.	72					positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity	p.R72C(2)		cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		TACAGCTGGCGCTGGGCCTTC	0.532													91	115					0	0	1	0	0	A	26371545	G	A	26371545	3	1	200	1	0	0	0	0	1	0	0	0	14555	1087	38	1	932	1	SLC30A2	1	26371545	Missense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08		26371545	222879076	1	8673											
NOTCH2	4853	broad.mit.edu	37	chr1	120510154	120510154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattgatgtccatctcacaaCgaggtcctgcataacccttc	10	11	6	14	1	1	1	1	1	1	0	5	2	3	1	3	1	3	1	3	1	2	3			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr1:120510154C>T	uc001eik.3	-	7	1652	c.1355G>A	c.(1354-1356)cGt>cAt	p.R452H	NOTCH2_uc001eil.3_Missense_Mutation_p.R452H|NOTCH2_uc021osy.1_Missense_Mutation_p.R413H|NOTCH2_uc001eim.4_Missense_Mutation_p.R369H	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	452	EGF-like 11; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.R452C(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATCTCACAACGAGGTCCTGC	0.498			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				10	111					0	0	1	0	0	T	120510154	C	T	120510154	3	4	200	1	0	0	0	0	1	0	0	0	10548	536	19	1	6168	1	NOTCH2	1	120510154	Missense_Mutation	SNP	C	TCGA-HT-7690-01A-11D-2253-08	94138609	120510154	128740467	2	8674											
XCL1	6375	broad.mit.edu	37	chr1	168550354	168550354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccacatgggtgagagacgtgGtcaggagcatggacaggaaa	13	5	16	7	1	1	2	1	1	0	1	1	6	1	5	1	5	1	1	1	5	1	0			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr1:168550354G>A	uc001gfo.2	+	2	406	c.241G>A	c.(241-243)Gtc>Atc	p.V81I		NM_002995	NP_002986	P47992	XCL1_HUMAN	Homo sapiens chemokine (C motif) ligand 1 (XCL1), mRNA.	81					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of B cell chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of activated T cell proliferation|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus	extracellular space	chemokine activity|protein homodimerization activity			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					GAGAGACGTGGTCAGGAGCAT	0.483													21	40					0	0	1	0	0	A	168550354	G	A	168550354	3	1	200	1	0	0	0	0	1	0	0	0	17420	1261	44	3	251	3	XCL1	1	168550354	Missense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08	48040200	168550354	80700267	3	8675											
MIA3	375056	broad.mit.edu	37	chr1	222828024	222828024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagaaattggaagatgaccGcaactcactacaagctgcca	17	6	8	10	1	1	3	1	1	0	2	1	4	1	4	2	1	4	2	2	1	6	2			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr1:222828024G>A	uc001hnl.3	+	17	4505	c.4496G>A	c.(4495-4497)cGc>cAc	p.R1499H	MIA3_uc001hnm.3_Missense_Mutation_p.R377H	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	1499					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GAAGATGACCGCAACTCACTA	0.448													3	72					0	0	1	0	0	A	222828024	G	A	222828024	3	1	200	1	0	0	0	0	1	0	0	0	9565	1087	38	1	4566	1	MIA3	1	222828024	Missense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08	54277670	222828024	26422597	4	8676											
AOX1	316	broad.mit.edu	37	chr2	201524011	201524011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagatctcaacggtttggcaGtaaaggtaacagtcactgca	13	9	10	9	1	2	1	2	0	1	1	3	1	2	1	0	3	3	5	0	3	4	3			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr2:201524011G>A	uc002uvx.3	+	27	3396	c.3295G>A	c.(3295-3297)Gta>Ata	p.V1099I	AOX1_uc010zhf.2_Missense_Mutation_p.V655I|AOX1_uc010fsu.3_Missense_Mutation_p.V465I	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	1099					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity	p.V1099I(2)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CGGTTTGGCAGTAAAGGTAAC	0.498													4	132					0	0	1	0	0	A	201524011	G	A	201524011	3	1	200	1	0	0	0	0	1	0	0	0	729	1029	36	3	3405	3	AOX1	2	201524011	Missense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08		201524011	41675362	5	8677											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								34	61					0	0	1	0	0	T	209113112	C	T	209113112	3	4	200	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7690-01A-11D-2253-08	7589101	209113112	34086261	6	8678											
CNOT6L	246175	broad.mit.edu	37	chr4	78665985	78665985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccatatagctgccgggtagCgtatttatcacataacacat	12	11	8	10	2	1	0	1	0	0	0	1	0	1	0	2	1	4	3	2	1	6	7			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr4:78665985C>T	uc011ccd.2	-	6	735	c.604G>A	c.(604-606)Gct>Act	p.A202T	CNOT6L_uc003hks.3_Missense_Mutation_p.A202T|CNOT6L_uc003hkt.1_Missense_Mutation_p.A45T|CNOT6L_uc011cce.1_Intron	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6-like (CNOT6L), mRNA.	202					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TGCCGGGTAGCGTATTTATCA	0.393													13	13					0	0	1	0	0	T	78665985	C	T	78665985	3	4	200	1	0	0	0	0	1	0	0	0	3623	768	27	1	1087	1	CNOT6L	4	78665985	Missense_Mutation	SNP	C	TCGA-HT-7690-01A-11D-2253-08		78665985	112488291	7	8679											
ADRA1B	147	broad.mit.edu	37	chr5	159344767	159344767	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagctgtcaaactttttaaGttctccagggaaaagaaagc	15	11	8	7	0	2	1	1	0	1	1	3	2	2	2	1	1	3	2	1	1	6	5			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr5:159344767G>T	uc003lxt.1	+	0	1028	c.855G>T	c.(853-855)aaG>aaT	p.K285N		NM_000679	NP_000670	P35368	ADA1B_HUMAN	Homo sapiens adrenergic, alpha-1B-, receptor (ADRA1B), mRNA.	285					G-protein signaling, coupled to cAMP nucleotide second messenger|cell proliferation|cell-cell signaling|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	AACTTTTTAAGTTCTCCAGGG	0.498													43	48					2.61675e-31	2.85464e-31	1	1	0	T	159344767	G	T	159344767	3	4	200	1	0	0	0	0	1	0	0	0	335	1020	36	5	857	5	ADRA1B	5	159344767	Missense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08		159344767	21570493	8	8680											
PKHD1	5314	broad.mit.edu	37	chr6	51747892	51747892	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accacactaaggcacttaccTtgtgggcaaaatgaccaagt	14	8	8	11	0	0	1	0	1	0	0	0	1	0	1	3	2	1	2	3	2	5	3			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr6:51747892T>C	uc003pah.1	-	46	7626	c.7350_splice	c.e46+1	p.K2450_splice	PKHD1_uc010jzn.1_Splice_Site_p.K433_splice|PKHD1_uc003pai.3_Splice_Site_p.K2450_splice	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	2450					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)					GGCACTTACCTTGTGGGCAAA	0.388													12	19					0	0	1	0	0	C	51747892	T	C	51747892	5	2	200	1	0	0	0	0	0	0	1	0	11971	1623	56	4	5002	4	PKHD1	6	51747892	Splice_Site	SNP	T	TCGA-HT-7690-01A-11D-2253-08		51747892	119367175	9	8681											
KEL	3792	broad.mit.edu	37	chr7	142658506	142658506	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacaaaggagcaggcccAaaatcaggatagctgtcagc	18	4	10	9	0	2	0	2	0	0	0	2	2	2	2	1	3	4	2	1	3	6	1			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr7:142658506A>C	uc003wcb.3	-	2	374	c.164T>G	c.(163-165)tTg>tGg	p.L55W		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	55					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.L55F(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GAGCAGGCCCAAAATCAGGAT	0.567													14	12					0	0	1	0	0	C	142658506	A	C	142658506	3	2	200	1	0	0	0	0	1	0	0	0	8142	131	5	5	2102	5	KEL	7	142658506	Missense_Mutation	SNP	A	TCGA-HT-7690-01A-11D-2253-08		142658506	16480157	10	8682											
KCNB2	9312	broad.mit.edu	37	chr8	73848875	73848875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttttacaaggagcagaaaCgccaagagaaagcaattaaa	20	6	9	6	1	0	2	0	0	0	2	0	4	0	3	1	1	4	3	1	1	8	3			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr8:73848875C>T	uc003xzb.3	+	2	1873	c.1285C>T	c.(1285-1287)Cgc>Tgc	p.R429C		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	429					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GGAGCAGAAACGCCAAGAGAA	0.438													4	56					0	0	1	0	0	T	73848875	C	T	73848875	3	4	200	1	0	0	0	0	1	0	0	0	8013	536	19	1	1291	1	KCNB2	8	73848875	Missense_Mutation	SNP	C	TCGA-HT-7690-01A-11D-2253-08		73848875	72515147	11	8683											
EPPK1	83481	broad.mit.edu	37	chr8	144946590	144946590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtaccctccaggtagcgccGcacctcggcacgtgcactca	7	6	11	17	4	1	0	1	0	0	0	3	0	2	0	4	3	3	5	4	3	2	2			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr8:144946590G>A	uc003zaa.1	-	0	845	c.832C>T	c.(832-834)Cgg>Tgg	p.R278W		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	278						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGTAGCGCCGCACCTCGGCA	0.682													3	20					0	0	1	0	0	A	144946590	G	A	144946590	3	1	200	1	0	0	0	0	1	0	0	0	5190	1086	38	1	6434	1	EPPK1	8	144946590	Missense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08	71097715	144946590	1417432	12	8684											
SLIT1	6585	broad.mit.edu	37	chr10	98819232	98819232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcacagcgagttcagggagCggaggccctggaaggcgtcg	8	5	17	11	4	2	0	2	0	0	0	3	4	2	3	1	5	2	1	1	5	1	1			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr10:98819232C>T	uc001kmw.2	-	10	1322	c.1070G>A	c.(1069-1071)cGc>cAc	p.R357H	SLIT1_uc009xvh.1_Missense_Mutation_p.R367H	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	357					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding	p.L356L(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GTTCAGGGAGCGGAGGCCCTG	0.622													19	53					0	0	1	0	0	T	98819232	C	T	98819232	3	4	200	1	0	0	0	0	1	0	0	0	14739	768	27	1	3642	1	SLIT1	10	98819232	Missense_Mutation	SNP	C	TCGA-HT-7690-01A-11D-2253-08		98819232	36715515	13	8685											
OR9I1	219954	broad.mit.edu	37	chr11	57877001	57877002	+	Frame_Shift_Ins	INS	-	-	C																															acttggattagaatgatcatINSccccccattccccagaaaag																										TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr11:57877001_57877002insC	uc021qjl.1	-	0	132_133	c.132_133insG	c.(130-135)gggatgfs	p.G44fs	OR9Q1_uc001nmj.3_Intron			Q8NGQ6	OR9I1_HUMAN	SubName: Full=Seven transmembrane helix receptor;	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				AGAATGATCATCCCCCCATTCC	0.485													2	4	---	---	---	---						C	57877002	-	C	57877001	7	5	200	1	0	1	1	0	0	0	0	0	11253	1450	50	0		0	OR9I1	11	57877001	Frame_Shift_Ins	INS	-	TCGA-HT-7690-01A-11D-2253-08		57877001	77129515	14	8686											
CDC42BPG	55561	broad.mit.edu	37	chr11	64601218	64601218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgtcctcacccccatgcGcaggctgcgtcggccctccg	4	7	10	20	4	1	0	1	0	0	0	4	0	3	0	6	2	2	2	6	2	0	0			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr11:64601218G>A	uc001obs.4	-	21	2557	c.2557C>T	c.(2557-2559)Cgc>Tgc	p.R853C		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	853					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						ACCCCCATGCGCAGGCTGCGT	0.687													3	40					0	0	1	0	0	A	64601218	G	A	64601218	3	1	200	1	0	0	0	0	1	0	0	0	3074	1087	38	1	2162	1	CDC42BPG	11	64601218	Missense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08	6724217	64601218	70405298	15	8687											
ABCC11	85320	broad.mit.edu	37	chr16	48211013	48211013	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgtgtaaaggagcttcCgagacacacatcttgttttt	10	14	8	9	1	1	1	0	0	1	1	3	3	3	2	2	1	1	3	2	1	2	5			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr16:48211013C>T	uc002eff.1	-	23	3710	c.3360G>A	c.(3358-3360)tcG>tcA	p.S1120S	ABCC11_uc002efg.1_Silent_p.S1120S|ABCC11_uc002efh.1_Silent_p.S1120S|ABCC11_uc010cbg.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	1120						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				AAGGAGCTTCCGAGACACACA	0.483													14	27					0	0	1	0	0	T	48211013	C	T	48211013	2	4	200	1	0	0	0	0	0	0	0	1	51	639	23	2		2	ABCC11	16	48211013	Silent	SNP	C	TCGA-HT-7690-01A-11D-2253-08		48211013	42143740	16	8688											
TP53	7157	broad.mit.edu	37	chr17	7577574	7577574	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcaggaactgttacacatgTagttgtagtggatggtggta	10	13	14	4	0	0	0	0	0	0	0	0	2	0	2	0	4	3	6	0	4	5	5			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr17:7577574T>C	uc002gim.2	-	6	901	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	TP53_uc002gig.1_Missense_Mutation_p.Y236C|TP53_uc002gih.3_Missense_Mutation_p.Y236C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y104C|TP53_uc010cnf.1_Missense_Mutation_p.Y104C|TP53_uc002gii.1_Missense_Mutation_p.Y104C|TP53_uc010cni.1_Missense_Mutation_p.Y236C|TP53_uc010cnh.1_Missense_Mutation_p.Y236C|TP53_uc002gij.2_Missense_Mutation_p.Y236C|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.Y143C|TP53_uc002gio.2_Missense_Mutation_p.Y104C|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	236	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y236C(113)|p.N235S(14)|p.Y236N(12)|p.Y236*(10)|p.Y236H(9)|p.Y236del(8)|p.0?(8)|p.Y236D(7)|p.N235D(7)|p.Y236S(6)|p.?(5)|p.Y143C(5)|p.N235I(4)|p.Y236fs*4(3)|p.N235T(3)|p.N235fs*5(2)|p.Y236_M243delYMCNSSCM(2)|p.N235Y(2)|p.N235fs*12(2)|p.Y236Y(2)|p.Y236_M237delYM(2)|p.I232_Y236delIHYNY(2)|p.H233_C242del10(2)|p.N235_Y236delNY(2)|p.N235del(2)|p.N235fs*6(1)|p.V225fs*23(1)|p.Y236_M237>*L(1)|p.Y236_M237insXX(1)|p.N235>XX(1)|p.N235M(1)|p.H233fs*6(1)|p.N235H(1)|p.Y234_N235insX(1)|p.Y236fs*5(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)		GTTACACATGTAGTTGTAGTG	0.572		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)			66	17					0	0	1	0	0	C	7577574	T	C	7577574	3	2	200	1	0	0	0	0	1	0	0	0	16378	1638	57	3	583	3	TP53	17	7577574	Missense_Mutation	SNP	T	TCGA-HT-7690-01A-11D-2253-08		7577574	73617636	17	8689											
EVI2B	2124	broad.mit.edu	37	chr17	29631309	29631309	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctgcaggtggaggtggcAgggattcattaagatcttga	9	12	15	5	0	3	2	1	1	2	1	3	4	3	4	0	5	1	3	0	5	1	4			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr17:29631309A>T	uc010csq.2	-	2	1547	c.1364T>A	c.(1363-1365)cTg>cAg	p.L455Q	NF1_uc002hgg.3_Intron|NF1_uc002hgh.3_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.3_Intron|EVI2B_uc002hgk.2_Missense_Mutation_p.L440Q|EVI2B_uc021tuk.1_Missense_Mutation_p.L440Q	NM_006495	NP_006486	P34910	EVI2B_HUMAN	Homo sapiens ecotropic viral integration site 2B (EVI2B), mRNA.	440						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TGGAGGTGGCAGGGATTCATT	0.363													3	64					0	0	1	0	0	T	29631309	A	T	29631309	3	4	200	1	0	0	0	0	1	0	0	0	5288	188	7	5	31	5	EVI2B	17	29631309	Missense_Mutation	SNP	A	TCGA-HT-7690-01A-11D-2253-08	22053735	29631309	51563901	18	8690											
SLFN11	91607	broad.mit.edu	37	chr17	33690253	33690273	+	In_Frame_Del	DEL	GGTCAGCAGGATCCGAGTTTG	GGTCAGCAGGATCCGAGTTTG	-																															atagtctttttggaaaattaGgtcagcaggatccgagtttg																										TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr17:33690253_33690273delGGTCAGCAGGATCCGAGTTTG	uc002hjg.4	-	1	801_821	c.554_574delCAAACTCGGATCCTGCTGACC	c.(553-576)ccaaactcggatcctgctgaccta>cta	p.PNSDPAD185del	SLFN11_uc010ctr.3_In_Frame_Del_p.PNSDPAD185del|SLFN11_uc010ctp.3_In_Frame_Del_p.PNSDPAD185del|SLFN11_uc010ctq.3_In_Frame_Del_p.PNSDPAD185del|SLFN11_uc002hjh.4_In_Frame_Del_p.PNSDPAD185del	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	185						nucleus	ATP binding	p.S187S(2)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGAAAATTAGGTCAGCAGGATCCGAGTTTGGGTCAGCAGG	0.412													20	134	---	---	---	---						-	33690273	GGTCAGCAGGATCCGAGTTTG	-	33690253	7	5	200	1	0	1	0	1	0	0	0	0	14733	991	35	0	2147	0	SLFN11	17	33690253	In_Frame_Del	DEL	GGTCAGCAGGATCCGAGTTTG	TCGA-HT-7690-01A-11D-2253-08	4058944	33690253	47504957	19	8691											
RNF43	54894	broad.mit.edu	37	chr17	56435582	56435582	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actaggctgcatgtccactcGctggggatcccctttagggc	6	10	12	13	1	0	0	0	0	0	0	3	1	2	1	3	4	1	3	3	4	2	3			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr17:56435582G>A	uc002iwf.3	-	7	3511	c.1555C>T	c.(1555-1557)Cga>Tga	p.R519*	RNF43_uc010wnv.2_Nonsense_Mutation_p.R478*|RNF43_uc002iwh.4_Nonsense_Mutation_p.R519*|RNF43_uc002iwg.4_Nonsense_Mutation_p.R519*|RNF43_uc010dcw.3_Nonsense_Mutation_p.R392*	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	519						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATGTCCACTCGCTGGGGATCC	0.592													62	72					0	0	1	0	0	A	56435582	G	A	56435582	4	1	200	1	0	0	0	0	0	1	0	0	13495	1095	38	1	804	1	RNF43	17	56435582	Nonsense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08	22745329	56435582	24759628	20	8692											
MARCH10	162333	broad.mit.edu	37	chr17	60879010	60879010	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctttctgcaattacctgAtactcagagtccaccttatg	9	15	6	11	0	2	2	1	1	1	1	3	2	3	2	3	0	4	2	3	0	4	5			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr17:60879010A>G	uc010dds.3	-	1	372	c.87T>C	c.(85-87)taT>taC	p.Y29Y	MARCH10_uc010ddr.3_Silent_p.Y29Y|MARCH10_uc002jag.4_Silent_p.Y29Y|MARCH10_uc002jah.2_Silent_p.Y29Y	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	29							ligase activity|zinc ion binding	p.Y29C(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CAATTACCTGATACTCAGAGT	0.428													19	137					0	0	1	0	0	G	60879010	A	G	60879010	2	3	200	1	0	0	0	0	0	0	0	1	9299	340	12	3		3	MARCH10	17	60879010	Silent	SNP	A	TCGA-HT-7690-01A-11D-2253-08	4443428	60879010	20316200	21	8693											
MATK	4145	broad.mit.edu	37	chr19	3779721	3779721	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacggccgtctcgtccaggaAggcctgggctgtcacatcac	7	7	13	14	3	3	0	2	0	1	0	5	2	4	1	3	4	0	1	3	4	1	0			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:3779721A>C	uc002lyt.3	-	8	1217	c.817T>G	c.(817-819)Ttc>Gtc	p.F273V	MATK_uc002lyv.3_Missense_Mutation_p.F274V|MATK_uc002lyu.3_Missense_Mutation_p.F232V|MATK_uc010dtq.3_Missense_Mutation_p.F273V|JA611290_uc021umx.1_5'Flank	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	273	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGTCCAGGAAGGCCTGGGCT	0.687													43	63					0	0	1	0	0	C	3779721	A	C	3779721	3	2	200	1	0	0	0	0	1	0	0	0	9332	72	3	5	730	5	MATK	19	3779721	Missense_Mutation	SNP	A	TCGA-HT-7690-01A-11D-2253-08		3779721	55349262	22	8694											
MPND	84954	broad.mit.edu	37	chr19	4357346	4357346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catctctgcaggacatcgacGcacagatggactaccagctg	11	7	10	13	2	1	1	0	0	1	1	3	4	1	3	1	2	3	3	1	2	1	1	rs61730129		TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:4357346G>A	uc002mae.3	+	8	1160	c.1093G>A	c.(1093-1095)Gca>Aca	p.A365T	MPND_uc010dtx.2_Non-coding_Transcript|MPND_uc002mag.3_Missense_Mutation_p.A315T	NM_032868	NP_116257	Q8N594	MPND_HUMAN	Homo sapiens MPN domain containing (MPND), transcript variant 1, mRNA.	365	MPN.						peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACATCGACGCACAGATGGA	0.672													3	48					0	0	1	0	0	A	4357346	G	A	4357346	3	1	200	1	0	0	0	0	1	0	0	0	9731	1087	38	1	1127	1	MPND	19	4357346	Missense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08	577625	4357346	54771637	23	8695											
TBC1D17	79735	broad.mit.edu	37	chr19	50387777	50387777	+	Frame_Shift_Del	DEL	G	G	-																															tacgtcattcagaacgaggtGgatgctttctggtgtttctg																										TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:50387777delG	uc002pqo.3	+	11	1604	c.1305delG	c.(1303-1305)gtgfs	p.V435fs	TBC1D17_uc010ybg.2_Frame_Shift_Del_p.V402fs|TBC1D17_uc002pqp.3_Frame_Shift_Del_p.V86fs|TBC1D17_uc002pqr.3_Frame_Shift_Del_p.V86fs	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	Homo sapiens TBC1 domain family, member 17 (TBC1D17), transcript variant 1, mRNA.	435	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		AGAACGAGGTGGATGCTTTCT	0.597													40	113	---	---	---	---						-	50387777	G	-	50387777	7	5	200	1	0	1	0	1	0	0	0	0	15603	1335	47	0	1351	0	TBC1D17	19	50387777	Frame_Shift_Del	DEL	G	TCGA-HT-7690-01A-11D-2253-08	46030431	50387777	8741206	24	8696											
ZNF667	63934	broad.mit.edu	37	chr19	56953384	56953384	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcatttaaaaggattcTctaaatggtgacttctttgc	10	17	7	7	0	3	1	0	1	3	0	4	2	3	2	0	2	2	1	0	2	4	7			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:56953384T>C	uc002qne.3	-	6	1771	c.980A>G	c.(979-981)gAg>gGg	p.E327G	ZNF667_uc010etl.3_Missense_Mutation_p.E109G|ZNF667_uc002qnd.3_Missense_Mutation_p.E327G|ZNF667_uc010etm.3_Missense_Mutation_p.E270G	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	327					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		AAAAGGATTCTCTAAATGGTG	0.373													8	119					0	0	1	0	0	C	56953384	T	C	56953384	3	2	200	1	0	0	0	0	1	0	0	0	18071	1551	54	4	856	4	ZNF667	19	56953384	Missense_Mutation	SNP	T	TCGA-HT-7690-01A-11D-2253-08	6565607	56953384	2175599	25	8697											
ZNF749	388567	broad.mit.edu	37	chr19	57956845	57956845	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agataattcatactggaaaaAggccttagtggagtgaatgc	15	10	11	5	0	1	2	1	1	0	1	1	4	1	4	1	3	2	0	1	3	6	4			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:57956845A>G	uc002qoq.2	+	2	2583	c.2329A>G	c.(2329-2331)Agg>Ggg	p.R777G		NM_001023561	NP_001018855	O43361	ZN749_HUMAN	Homo sapiens zinc finger protein 749 (ZNF749), mRNA.	777					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TACTGGAAAAAGGCCTTAGTG	0.393													3	97					0	0	1	0	0	G	57956845	A	G	57956845	3	3	200	1	0	0	0	0	1	0	0	0	18128	63	3	4	2339	4	ZNF749	19	57956845	Missense_Mutation	SNP	A	TCGA-HT-7690-01A-11D-2253-08	1003461	57956845	1172138	26	8698											
PI3	5266	broad.mit.edu	37	chr20	43804672	43804672	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattatcttgatccggtgcGccatgttgaatccccctaac	8	12	7	14	2	1	2	0	2	1	0	3	2	3	2	5	1	2	1	5	1	3	4			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr20:43804672G>C	uc002xng.3	+	1	274	c.250G>C	c.(250-252)Gcc>Ccc	p.A84P		NM_002638	NP_002629	P19957	ELAF_HUMAN	Homo sapiens peptidase inhibitor 3, skin-derived (PI3), mRNA.	84	WAP.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity	p.C83C(1)		large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				GATCCGGTGCGCCATGTTGAA	0.512													29	55					0	0	1	0	0	C	43804672	G	C	43804672	3	2	200	1	0	0	0	0	1	0	0	0	11870	1087	38	5	256	5	PI3	20	43804672	Missense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08		43804672	19220848	27	8699											
MAPK8IP2	23542	broad.mit.edu	37	chr22	51044326	51044326	+	Frame_Shift_Del	DEL	C	C	-																															tccgtggaggtgccctgccaCcagggcaacggcatcctgtg																										TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr22:51044326delC	uc003bmx.3	+	8	2202	c.2085delC	c.(2083-2085)cacfs	p.H695fs	MAPK8IP2_uc003bmy.3_Frame_Shift_Del_p.H668fs|MAPK8IP2_uc011asc.2_Frame_Shift_Del_p.H50fs	NM_012324	NP_036456	Q13387	JIP2_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA.	696	PID.				MAPKKK cascade|behavioral fear response|dendrite morphogenesis|nonassociative learning|positive regulation of anti-apoptosis|regulation of JNK cascade|regulation of excitatory postsynaptic membrane potential|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	MAP-kinase scaffold activity|beta-amyloid binding|kinesin binding|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGCCCTGCCACCAGGGCAACG	0.682													2	4	---	---	---	---						-	51044326	C	-	51044326	7	5	200	1	0	1	0	1	0	0	0	0	9285	506	18	0	2207	0	MAPK8IP2	22	51044326	Frame_Shift_Del	DEL	C	TCGA-HT-7690-01A-11D-2253-08		51044326	260240	28	8700											
ATRX	546	broad.mit.edu	37	chrX	76849221	76849221	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaagagaagtaccatttTcccagaatgctctaaaacct	15	11	5	10	0	2	2	1	0	1	2	3	3	3	2	3	0	3	2	3	0	6	5			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chrX:76849221T>C	uc004ecp.4	-	25	6287	c.6055A>G	c.(6055-6057)Aaa>Gaa	p.K2019E	ATRX_uc004ecq.4_Missense_Mutation_p.K1981E|ATRX_uc004eco.4_Missense_Mutation_p.K1804E	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2019					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AGTACCATTTTCCCAGAATGC	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						44	9					0	0	1	0	0	C	76849221	T	C	76849221	3	2	200	1	0	0	0	0	1	0	0	0	1208	1792	62	3	1463	3	ATRX	23	76849221	Missense_Mutation	SNP	T	TCGA-HT-7690-01A-11D-2253-08		76849221	78421339	29	8701											
AMOT	154796	broad.mit.edu	37	chrX	112022266	112022266	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaaacttggtatagacaaaCgatgtggtccaggaccggta	13	9	11	8	2	1	1	1	0	0	1	2	3	2	2	2	4	2	2	2	4	5	4			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chrX:112022266C>A	uc004epr.3	-	9	3134	c.3116G>T	c.(3115-3117)cGt>cTt	p.R1039L	AMOT_uc004eps.3_Missense_Mutation_p.R630L|AMOT_uc011mtc.1_Missense_Mutation_p.R279L	NM_001113490	NP_573572	Q4VCS5	AMOT_HUMAN	Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA.	1039					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TATAGACAAACGATGTGGTCC	0.488													4	125					1	1	1	1	0	A	112022266	C	A	112022266	3	1	200	1	0	0	0	0	1	0	0	0	582	536	19	5	146	5	AMOT	23	112022266	Missense_Mutation	SNP	C	TCGA-HT-7690-01A-11D-2253-08	35173045	112022266	43248294	30	8702											
ATP11C	286410	broad.mit.edu	37	chrX	138857058	138857058	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccccagtgagcacccagacTttcaggcctgctgcatgcag	8	8	10	15	0	1	2	1	1	0	1	2	2	2	2	4	1	4	4	4	1	0	1			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chrX:138857058T>C	uc004faz.3	-	18	2115	c.2016A>G	c.(2014-2016)aaA>aaG	p.K672K	ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Silent_p.K672K	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	672					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.K672*(1)		breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GCACCCAGACTTTCAGGCCTG	0.483													5	46					0	0	1	0	0	C	138857058	T	C	138857058	2	2	200	1	0	0	0	0	0	0	0	1	1121	1606	56	4		4	ATP11C	23	138857058	Silent	SNP	T	TCGA-HT-7690-01A-11D-2253-08	26834792	138857058	16413502	31	8703											
SLC6A17	388662	broad.mit.edu	37	chr1	110740737	110740737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atttccccaactgggccatgGcactcctgatcaccctcatc	8	10	6	17	0	2	1	2	1	0	0	5	1	4	1	5	2	1	1	5	2	1	1			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr1:110740737G>A	uc009wfq.3	+	11	2316	c.1855G>A	c.(1855-1857)Gca>Aca	p.A619T		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	619					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CTGGGCCATGGCACTCCTGAT	0.657													3	32					0	0	1	0	0	A	110740737	G	A	110740737	3	1	201	1	0	0	0	0	1	0	0	0	14680	1203	42	3	1897	3	SLC6A17	1	110740737	Missense_Mutation	SNP	G	TCGA-HT-7691-01A-11D-2253-08		110740737	138509884	1	8704											
PCDHB10	56126	broad.mit.edu	37	chr5	140572688	140572688	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cattagtggcggtgatgaagGcatgatatatccagagctag	12	10	13	6	1	0	4	0	3	0	1	1	4	1	4	1	3	1	2	1	3	5	4			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr5:140572688G>T	uc003lix.3	+	0	737	c.563G>T	c.(562-564)gGc>gTc	p.G188V		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	188	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGATGAAGGCATGATATAT	0.498													53	137					3.10202e-16	3.56732e-16	1	1	0	T	140572688	G	T	140572688	3	4	201	1	0	0	0	0	1	0	0	0	11535	1203	42	5	565	5	PCDHB10	5	140572688	Missense_Mutation	SNP	G	TCGA-HT-7691-01A-11D-2253-08		140572688	40342572	2	8705											
TAF5	6877	broad.mit.edu	37	chr10	105145230	105145230	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tattattttgtgtcagggggCcatgaccgagtagctcggta	8	13	13	7	2	1	1	1	1	0	0	2	2	1	1	2	3	1	3	2	3	4	6	rs145434074		TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr10:105145230C>T	uc001kwv.3	+	7	1835	c.1812C>T	c.(1810-1812)ggC>ggT	p.G604G	TAF5_uc010qqq.2_Intron	NM_006951	NP_008882	Q15542	TAF5_HUMAN	Homo sapiens TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa (TAF5), mRNA.	604					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TGTCAGGGGGCCATGACCGAG	0.413													3	36					0	0	1	0	0	T	105145230	C	T	105145230	2	4	201	1	0	0	0	0	0	0	0	1	15525	726	26	3		3	TAF5	10	105145230	Silent	SNP	C	TCGA-HT-7691-01A-11D-2253-08		105145230	30389517	3	8706											
MTL5	9633	broad.mit.edu	37	chr11	68517872	68517872	+	Frame_Shift_Del	DEL	C	C	-																															gctccccgccgtcgctgtcgCcccccgcgagcttcgccttg																										TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr11:68517872delC	uc001ooc.3	-	1	397	c.257delG	c.(256-258)ggcfs	p.G86fs	MTL5_uc001ood.1_Frame_Shift_Del_p.G86fs|MTL5_uc009ysi.1_Frame_Shift_Del_p.G86fs|MTL5_uc001ooe.3_Frame_Shift_Del_p.G86fs	NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	Homo sapiens metallothionein-like 5, testis-specific (tesmin) (MTL5), transcript variant 1, mRNA.	86					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GTCGCTGTCGCCCCCCGCGAG	0.751													2	4	---	---	---	---						-	68517872	C	-	68517872	7	5	201	1	0	1	0	1	0	0	0	0	9936	739	26	0	1309	0	MTL5	11	68517872	Frame_Shift_Del	DEL	C	TCGA-HT-7691-01A-11D-2253-08		68517872	66488644	4	8707											
B4GALNT1	2583	broad.mit.edu	37	chr12	58025769	58025769	+	Frame_Shift_Del	DEL	G	G	-																															ggagcaagatctggcagctcGggcctgcgggggctttgcgg																										TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr12:58025769delG	uc001spg.1	-	1	579	c.147delC	c.(145-147)cccfs	p.P49fs	B4GALNT1_uc010sru.2_Frame_Shift_Del_p.P49fs|B4GALNT1_uc010srv.2_Frame_Shift_Del_p.P49fs|B4GALNT1_uc001spi.3_Frame_Shift_Del_p.P49fs|B4GALNT1_uc010srw.1_Frame_Shift_Del_p.P126fs	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), mRNA.	49					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CTGGCAGCTCGGGCCTGCGGG	0.726													2	4	---	---	---	---						-	58025769	G	-	58025769	7	5	201	1	0	1	0	1	0	0	0	0	1266	1103	39	0	1494	0	B4GALNT1	12	58025769	Frame_Shift_Del	DEL	G	TCGA-HT-7691-01A-11D-2253-08		58025769	75826126	5	8708											
SACS	26278	broad.mit.edu	37	chr13	23908606	23908606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcatctttaaaacaataatCaactaaaagttttaaactat	19	14	2	6	0	2	0	1	0	1	0	2	0	2	0	0	0	4	2	0	0	10	7			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr13:23908606C>T	uc001uon.2	-	9	9998	c.9409G>A	c.(9409-9411)Gat>Aat	p.D3137N	SACS_uc001uoo.2_Missense_Mutation_p.D2990N|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3137					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAACAATAATCAACTAAAAGT	0.373													11	19					0	0	1	0	0	T	23908606	C	T	23908606	3	4	201	1	0	0	0	0	1	0	0	0	13804	826	29	3	4334	3	SACS	13	23908606	Missense_Mutation	SNP	C	TCGA-HT-7691-01A-11D-2253-08		23908606	91261272	6	8709											
HCN4	10021	broad.mit.edu	37	chr15	73615170	73615170	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggcagggctggctgagaCgcggagatgagcttgaggtc	8	7	19	7	2	0	5	0	4	0	2	1	7	0	5	0	5	1	4	0	5	0	1			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr15:73615170C>T	uc002avp.3	-	7	4258	c.3264G>A	c.(3262-3264)gcG>gcA	p.A1088A		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	1088					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CTGGCTGAGACGCGGAGATGA	0.726													4	3					0	0	1	0	0	T	73615170	C	T	73615170	2	4	201	1	0	0	0	0	0	0	0	1	6999	523	19	1		1	HCN4	15	73615170	Silent	SNP	C	TCGA-HT-7691-01A-11D-2253-08		73615170	28916222	7	8710											
FBXL16	146330	broad.mit.edu	37	chr16	747263	747265	+	In_Frame_Del	DEL	TGG	TGG	-																															gggtgggtgggggtggtggcTggcaggggcggttcttggtg																										TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr16:747263_747265delTGG	uc021taa.1	-	1	469_471	c.141_143delCCA	c.(139-144)tgccag>tgg	p.47_48CQ>W	FBXL16_uc002cja.3_5'Flank|FBXL16_uc002cjb.3_5'Flank	NM_153350	NP_699181	Q8N461	FXL16_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 16 (FBXL16), mRNA.	47	Pro-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				GGGTGGTGGCTGGCAGGGGCGGT	0.729													2	4	---	---	---	---						-	747265	TGG	-	747263	7	5	201	1	0	1	0	1	0	0	0	0	5712	1580	55	0	1316	0	FBXL16	16	747263	In_Frame_Del	DEL	TGG	TCGA-HT-7691-01A-11D-2253-08		747263	89607490	8	8711											
CTNS	1497	broad.mit.edu	37	chr17	3560060	3560060	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcggttgtcctcacgctgAtcatcatcgtgcagtgctgc	6	11	11	13	4	3	1	3	1	0	0	5	1	4	1	1	1	3	4	1	1	0	1			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr17:3560060A>G	uc002fwa.3	+	8	1122	c.652A>G	c.(652-654)Atc>Gtc	p.I218V	CTNS_uc002fwb.3_Missense_Mutation_p.I218V|CTNS_uc010ckj.3_Missense_Mutation_p.I218V|CTNS_uc010vrv.2_Missense_Mutation_p.I71V|CTNS_uc010vrw.2_Missense_Mutation_p.I110V	NM_001031681	NP_001026851	O60931	CTNS_HUMAN	Homo sapiens cystinosin, lysosomal cystine transporter (CTNS), transcript variant 1, mRNA.	218					ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	CCTCACGCTGATCATCATCGT	0.592													24	80					0	0	1	0	0	G	3560060	A	G	3560060	3	3	201	1	0	0	0	0	1	0	0	0	4021	333	12	3	678	3	CTNS	17	3560060	Missense_Mutation	SNP	A	TCGA-HT-7691-01A-11D-2253-08		3560060	77635150	9	8712											
TMC6	11322	broad.mit.edu	37	chr17	76120700	76120700	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccatgatgaaggccaccaGcagcagcagcaggagggcat	12	3	14	12	0	0	2	0	2	0	0	0	3	0	3	3	3	4	5	3	3	1	0			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr17:76120700G>C	uc002juj.1	-	6	922	c.796C>G	c.(796-798)Ctg>Gtg	p.L266V	TMC6_uc002jui.1_5'Flank|TMC6_uc010dhf.1_Missense_Mutation_p.L99V|TMC6_uc002juk.2_Missense_Mutation_p.L266V|TMC6_uc010dhg.1_Missense_Mutation_p.L266V|TMC6_uc002jul.1_Missense_Mutation_p.L266V|TMC6_uc002jum.4_Missense_Mutation_p.L57V|TMC6_uc002jun.4_Missense_Mutation_p.L266V|TMC6_uc002juo.2_Missense_Mutation_p.L39V|TMC6_uc010wtp.1_Missense_Mutation_p.L99V	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	Homo sapiens transmembrane channel-like 6 (TMC6), transcript variant 2, mRNA.	266				L -> P (in Ref. 2; AAP69874).		endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AAGGCCACCAGCAGCAGCAGC	0.672													2	16					0	0	1	0	0	C	76120700	G	C	76120700	3	2	201	1	0	0	0	0	1	0	0	0	15986	962	34	5	1673	5	TMC6	17	76120700	Missense_Mutation	SNP	G	TCGA-HT-7691-01A-11D-2253-08	72560640	76120700	5074510	10	8713											
IL12RB1	3594	broad.mit.edu	37	chr19	18183118	18183118	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagtgacctccgtgccaggCgccagcccttgacagccttc	7	8	10	16	2	0	2	0	2	0	0	2	2	1	2	6	1	3	0	6	1	1	3	rs141737618		TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr19:18183118C>T	uc002nhx.1	-	9	996	c.945G>A	c.(943-945)gcG>gcA	p.A315A	IL12RB1_uc002nhw.1_Silent_p.A275A|IL12RB1_uc010xqb.1_Silent_p.A275A|IL12RB1_uc002nhy.3_Silent_p.A275A	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	275	Fibronectin type-III 3.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CCGTGCCAGGCGCCAGCCCTT	0.587													9	19					0	0	1	0	0	T	18183118	C	T	18183118	2	4	201	1	0	0	0	0	0	0	0	1	7626	755	27	1		1	IL12RB1	19	18183118	Silent	SNP	C	TCGA-HT-7691-01A-11D-2253-08		18183118	40945865	11	8714											
FOXR2	139628	broad.mit.edu	37	chrX	55650390	55650390	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaatctgtggatgtgggtGgaccccaatatcctgtgccc	7	10	11	13	0	1	0	0	0	1	0	2	2	2	2	5	3	1	0	5	3	3	1			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chrX:55650390G>A	uc004duo.3	+	0	558	c.246G>A	c.(244-246)gtG>gtA	p.V82V		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	82					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						GGATGTGGGTGGACCCCAATA	0.552													3	58					0	0	1	0	0	A	55650390	G	A	55650390	2	1	201	1	0	0	0	0	0	0	0	1	6032	1335	47	3		3	FOXR2	23	55650390	Silent	SNP	G	TCGA-HT-7691-01A-11D-2253-08		55650390	99620170	12	8715											
BRWD3	254065	broad.mit.edu	37	chrX	79932312	79932312	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaacgtcctgaaaacatGgtatcaaattcatcatctgc	14	11	6	10	1	4	2	3	2	1	0	5	2	5	2	1	1	3	1	1	1	5	2			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chrX:79932312G>A	uc004edt.3	-	40	5468	c.5205C>T	c.(5203-5205)acC>acT	p.T1735T	BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Silent_p.T1564T|BRWD3_uc004edq.3_Silent_p.T1331T|BRWD3_uc010nmj.2_Silent_p.T1331T|BRWD3_uc004edr.3_Silent_p.T1405T|BRWD3_uc004eds.3_Silent_p.T1331T|BRWD3_uc004edo.3_Silent_p.T1331T|BRWD3_uc004edu.3_Silent_p.T1405T|BRWD3_uc004edv.3_Silent_p.T1331T|BRWD3_uc004edw.3_Silent_p.T1331T|BRWD3_uc004edx.3_Silent_p.T1331T|BRWD3_uc004edy.3_Silent_p.T1331T|BRWD3_uc004edz.3_Silent_p.T1405T|BRWD3_uc004eea.3_Silent_p.T1405T|BRWD3_uc004eeb.3_Silent_p.T1331T	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	1735										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTGAAAACATGGTATCAAATT	0.443													5	86					0	0	1	0	0	A	79932312	G	A	79932312	2	1	201	1	0	0	0	0	0	0	0	1	1526	1335	47	3		3	BRWD3	23	79932312	Silent	SNP	G	TCGA-HT-7691-01A-11D-2253-08	24281922	79932312	75338248	13	8716											
NES	10763	broad.mit.edu	37	chr1	156642351	156642351	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccagagacttcagggtttcTttttccaaaggaacctggga	10	11	10	10	0	2	1	1	0	1	1	3	4	3	3	3	3	1	1	3	3	2	4			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr1:156642351T>C	uc001fpq.3	-	3	1762	c.1629A>G	c.(1627-1629)aaA>aaG	p.K543K	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	543	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCAGGGTTTCTTTTTCCAAAG	0.468													5	38					0	0	1	0	0	C	156642351	T	C	156642351	2	2	202	1	0	0	0	0	0	0	0	1	10337	1606	56	4		4	NES	1	156642351	Silent	SNP	T	TCGA-HT-7692-01A-12D-2253-08		156642351	92608270	1	8717											
HMCN1	83872	broad.mit.edu	37	chr1	185964003	185964003	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtccaagttggtcaaagaGtggatattccatgtaatgct	13	12	10	6	0	1	1	1	0	0	1	3	2	3	2	2	2	1	3	2	2	5	4			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr1:185964003G>T	uc001grq.1	+	23	3791	c.3562G>T	c.(3562-3564)Gtg>Ttg	p.V1188L		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1188	Ig-like C2-type 9.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.R1187S(1)|p.V1188E(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGGTCAAAGAGTGGATATTCC	0.413													5	83					0.014758	0.014758	1	1	0	T	185964003	G	T	185964003	3	4	202	1	0	0	0	0	1	0	0	0	7220	1029	36	5	3656	5	HMCN1	1	185964003	Missense_Mutation	SNP	G	TCGA-HT-7692-01A-12D-2253-08	29321652	185964003	63286618	2	8718											
OR2C3	81472	broad.mit.edu	37	chr1	247695072	247695072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtaaaacagagacaccaCagccacgtgggaagaacagg	16	2	11	12	2	0	2	0	0	0	2	0	4	0	3	3	2	3	1	3	2	4	1			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr1:247695072C>T	uc021pmb.1	-	0	742	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Missense_Mutation_p.V248M	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AGAGACACCACAGCCACGTGG	0.542													39	78					0	0	1	0	0	T	247695072	C	T	247695072	3	4	202	1	0	0	0	0	1	0	0	0	10993	478	17	3	224	3	OR2C3	1	247695072	Missense_Mutation	SNP	C	TCGA-HT-7692-01A-12D-2253-08	61731069	247695072	1555549	3	8719											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								16	52					0	0	1	0	0	T	209113112	C	T	209113112	3	4	202	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7692-01A-12D-2253-08		209113112	34086261	4	8720											
PTX3	5806	broad.mit.edu	37	chr3	157154729	157154731	+	In_Frame_Del	DEL	CTC	CTC	-																															gcgtctctccagcaatgcatCtccttgcgattctgttttgt																										TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr3:157154729_157154731delCTC	uc003fbl.4	+	0	150_152	c.7_9delCTC	c.(7-9)ctcdel	p.L4del	VEPH1_uc003fbj.2_Intron|VEPH1_uc003fbk.2_Intron|VEPH1_uc010hvu.2_Intron	NM_002852	NP_002843	P26022	PTX3_HUMAN	Homo sapiens pentraxin 3, long (PTX3), mRNA.	4					inflammatory response	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AGCAATGCATCTCCTTGCGATTC	0.493													64	97	---	---	---	---						-	157154731	CTC	-	157154729	7	5	202	1	0	1	0	1	0	0	0	0	12822	913	32	0	9	0	PTX3	3	157154729	In_Frame_Del	DEL	CTC	TCGA-HT-7692-01A-12D-2253-08		157154729	40867701	5	8721											
PIK3CA	5290	broad.mit.edu	37	chr3	178936095	178936095	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctctgaaatcactgagcAggagaaagattttctatgga	13	12	9	7	0	4	4	1	2	3	2	5	6	4	5	0	2	1	1	0	2	3	3			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr3:178936095A>G	uc003fjk.3	+	9	1794	c.1637A>G	c.(1636-1638)cAg>cGg	p.Q546R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	546	PI3K helical.		Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(1071)|p.E545A(96)|p.Q546K(94)|p.E545G(79)|p.Q546R(58)|p.Q546P(33)|p.E545D(23)|p.E545Q(21)|p.E545?(19)|p.Q546E(12)|p.Q546L(11)|p.E545V(6)|p.Q546H(5)|p.(542_545)E>K(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ATCACTGAGCAGGAGAAAGAT	0.363		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			13	31					0	0	1	0	0	G	178936095	A	G	178936095	3	3	202	1	0	0	0	0	1	0	0	0	11913	188	7	4	1671	4	PIK3CA	3	178936095	Missense_Mutation	SNP	A	TCGA-HT-7692-01A-12D-2253-08	21781366	178936095	19086335	6	8722											
SH3RF1	57630	broad.mit.edu	37	chr4	170017683	170017690	+	Frame_Shift_Del	DEL	ACAAAGCT	ACAAAGCT	-																															agtctcctcatatgttttccAcaaagcttcctgggaaaagg																										TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr4:170017683_170017690delACAAAGCT	uc003isa.1	-	11	2982_2989	c.2647_2654delAGCTTTGT	c.(2647-2655)agctttgtgfs	p.S883fs		NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.	883	SH3 4.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TATGTTTTCCACAAAGCTTCCTGGGAAA	0.389													9	77	---	---	---	---						-	170017690	ACAAAGCT	-	170017683	7	5	202	1	0	1	0	1	0	0	0	0	14258	159	6	0	16	0	SH3RF1	4	170017683	Frame_Shift_Del	DEL	ACAAAGCT	TCGA-HT-7692-01A-12D-2253-08		170017683	21136593	7	8723											
BNIP1	662	broad.mit.edu	37	chr5	172587005	172587005	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcctcatggggatcagcagGatgatggcccagcaggtcca	10	6	14	11	0	2	1	2	1	0	0	3	3	3	3	3	5	3	2	3	5	0	0			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr5:172587005G>A	uc003mci.4	+	5	674	c.570G>A	c.(568-570)agG>agA	p.R190R	BNIP1_uc003mcj.4_Silent_p.R147R|BNIP1_uc003mck.4_Silent_p.R156R|BNIP1_uc003mcl.4_Silent_p.R113R|BNIP1_uc021yhw.1_Silent_p.R60R	NM_013979	NP_053582	Q12981	SEC20_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 1 (BNIP1), transcript variant BNIP1-b, mRNA.	147					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	SNARE complex|integral to endoplasmic reticulum membrane|nuclear envelope	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGATCAGCAGGATGATGGCCC	0.562													84	118					0	0	1	0	0	A	172587005	G	A	172587005	2	1	202	1	0	0	0	0	0	0	0	1	1476	1165	41	3		3	BNIP1	5	172587005	Silent	SNP	G	TCGA-HT-7692-01A-12D-2253-08		172587005	8328255	8	8724											
MAGI2	9863	broad.mit.edu	37	chr7	77885556	77885556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattgtcatcatggacgggcGgtggatacgtgccgtctagc	7	10	14	10	4	3	0	2	0	1	0	3	2	3	2	1	4	3	0	1	4	2	3			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr7:77885556G>A	uc003ugx.3	-	9	2005	c.1751C>T	c.(1750-1752)cCg>cTg	p.P584L	MAGI2_uc003ugy.3_Missense_Mutation_p.P584L|MAGI2_uc010ldx.1_Missense_Mutation_p.P193L|MAGI2_uc010ldy.1_Missense_Mutation_p.P193L|MAGI2_uc011kgr.1_Missense_Mutation_p.P416L|MAGI2_uc011kgs.1_Missense_Mutation_p.P421L	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	584						cell junction|synapse|synaptosome	phosphatase binding	p.P584L(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ATGGACGGGCGGTGGATACGT	0.527													3	54					0	0	1	0	0	A	77885556	G	A	77885556	3	1	202	1	0	0	0	0	1	0	0	0	9191	1116	39	2	2668	2	MAGI2	7	77885556	Missense_Mutation	SNP	G	TCGA-HT-7692-01A-12D-2253-08		77885556	81253107	9	8725											
BAI1	575	broad.mit.edu	37	chr8	143623472	143623472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacctgcacggctcacccCgctatcccggcgggcccctg	4	6	11	20	4	1	0	1	0	0	0	2	0	2	0	6	3	2	4	6	3	1	1			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr8:143623472C>T	uc003ywm.3	+	26	4060	c.3877C>T	c.(3877-3879)Cgc>Tgc	p.R1293C		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	1293					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CGGCTCACCCCGCTATCCCGG	0.652													3	32					0	0	1	0	0	T	143623472	C	T	143623472	3	4	202	1	0	0	0	0	1	0	0	0	1298	652	23	2	3983	2	BAI1	8	143623472	Missense_Mutation	SNP	C	TCGA-HT-7692-01A-12D-2253-08		143623472	2740550	10	8726											
FBXO18	84893	broad.mit.edu	37	chr10	5979128	5979128	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccactcctgtgcggagcagcGcatcgggcccctggcgttcc	4	7	13	17	4	0	0	0	0	0	0	3	1	2	1	5	3	3	3	5	3	0	1			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr10:5979128G>A	uc001iit.3	+	21	3274	c.3170G>A	c.(3169-3171)cGc>cAc	p.R1057H	FBXO18_uc001iir.3_Missense_Mutation_p.R949H|FBXO18_uc001iis.3_Missense_Mutation_p.R1006H|FBXO18_uc009xig.3_Missense_Mutation_p.R932H	NM_032807	NP_835363	Q8NFZ0	FBX18_HUMAN	Homo sapiens F-box protein, helicase, 18 (FBXO18), transcript variant 1, mRNA.	1006					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GCGGAGCAGCGCATCGGGCCC	0.622													12	27					0	0	1	0	0	A	5979128	G	A	5979128	3	1	202	1	0	0	0	0	1	0	0	0	5731	1087	38	1	3261	1	FBXO18	10	5979128	Missense_Mutation	SNP	G	TCGA-HT-7692-01A-12D-2253-08		5979128	129555619	11	8727											
FGFR2	2263	broad.mit.edu	37	chr10	123256167	123256167	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggagtactccatcccgggtGgcctccgggctcggaggtat	6	8	15	12	3	0	0	0	0	0	0	4	2	3	2	4	6	1	3	4	6	2	2			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr10:123256167G>T	uc021pzz.1	-	12	2389	c.1742C>A	c.(1741-1743)cCa>cAa	p.P581Q	FGFR2_uc021pzv.1_Missense_Mutation_p.P469Q|FGFR2_uc021pzw.1_Missense_Mutation_p.P466Q|FGFR2_uc021pzx.1_Missense_Mutation_p.P492Q|FGFR2_uc021pzy.1_Missense_Mutation_p.P582Q|FGFR2_uc010qtl.2_Missense_Mutation_p.P465Q|FGFR2_uc010qtm.2_Missense_Mutation_p.P464Q|FGFR2_uc021qaa.1_Missense_Mutation_p.P582Q|FGFR2_uc021qab.1_Missense_Mutation_p.P493Q|FGFR2_uc021qac.1_Missense_Mutation_p.P510Q|FGFR2_uc001lfg.4_Missense_Mutation_p.P189Q	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	581	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CATCCCGGGTGGCCTCCGGGC	0.532		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome				57	73					9.16383e-17	9.39293e-17	1	1	0	T	123256167	G	T	123256167	3	4	202	1	0	0	0	0	1	0	0	0	5866	1348	47	5	851	5	FGFR2	10	123256167	Missense_Mutation	SNP	G	TCGA-HT-7692-01A-12D-2253-08	117277039	123256167	12278580	12	8728											
MUC5B	727897	broad.mit.edu	37	chr11	1270916	1270916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactggatccacggccacccCgtcctccaccccgggaacag	8	4	9	20	3	0	0	0	0	0	0	3	2	3	2	8	3	1	0	8	3	1	0			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr11:1270916C>T	uc001lta.3	+	30	12865	c.12806C>T	c.(12805-12807)cCg>cTg	p.P4269L		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4269	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACGGCCACCCCGTCCTCCACC	0.642													42	162					0	0	1	0	0	T	1270916	C	T	1270916	3	4	202	1	0	0	0	0	1	0	0	0	9979	652	23	2	12937	2	MUC5B	11	1270916	Missense_Mutation	SNP	C	TCGA-HT-7692-01A-12D-2253-08		1270916	133735600	13	8729											
OR4A15	81328	broad.mit.edu	37	chr11	55136117	55136118	+	Frame_Shift_Del	DEL	TT	TT	-																															tggggtcatattacactctcTtaagactcagagtttggaag																										TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr11:55136117_55136118delTT	uc010rif.2	+	0	758_759	c.758_759delTT	c.(757-759)cttfs	p.L253fs		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L253F(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTACACTCTCTTAAGACTCAGA	0.436													7	80	---	---	---	---						-	55136118	TT	-	55136117	7	5	202	1	0	1	0	1	0	0	0	0	11040	1609	56	0	760	0	OR4A15	11	55136117	Frame_Shift_Del	DEL	TT	TCGA-HT-7692-01A-12D-2253-08	53865201	55136117	79870399	14	8730											
OR5A1	219982	broad.mit.edu	37	chr11	59211422	59211422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgggacagcccttttcGtgtacttgcgacccagctcc	5	13	10	13	2	0	0	0	0	0	0	2	2	1	1	3	1	4	3	3	1	1	5			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr11:59211422G>A	uc001nnx.1	+	0	781	c.781G>A	c.(781-783)Gtg>Atg	p.V261M		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						AGCCCTTTTCGTGTACTTGCG	0.537													100	144					0	0	1	0	0	A	59211422	G	A	59211422	3	1	202	1	0	0	0	0	1	0	0	0	11139	1145	40	1	783	1	OR5A1	11	59211422	Missense_Mutation	SNP	G	TCGA-HT-7692-01A-12D-2253-08	4075305	59211422	75795094	15	8731											
SUV420H1	51111	broad.mit.edu	37	chr11	67941292	67941292	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcttttgttgcaactattTtggctccattttgttctgat	6	21	6	8	0	2	1	0	1	2	0	3	1	3	1	1	1	2	4	1	1	2	9			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr11:67941292T>C	uc001onm.1	-	5	888	c.632A>G	c.(631-633)aAa>aGa	p.K211R	SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_Missense_Mutation_p.K39R|SUV420H1_uc009ysf.2_5'UTR|SUV420H1_uc001ono.1_Missense_Mutation_p.K211R|SUV420H1_uc010rqa.1_Missense_Mutation_p.K188R	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA.	211	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TGCAACTATTTTGGCTCCATT	0.299													6	63					0	0	1	0	0	C	67941292	T	C	67941292	3	2	202	1	0	0	0	0	1	0	0	0	15411	1841	64	3	2057	3	SUV420H1	11	67941292	Missense_Mutation	SNP	T	TCGA-HT-7692-01A-12D-2253-08	8729870	67941292	67065224	16	8732											
OR10G8	219869	broad.mit.edu	37	chr11	123901193	123901193	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcaaccctgttgtgtacacCctgaggaacaaggaggtgaa	12	8	11	10	0	1	2	1	2	0	0	1	4	1	4	2	3	3	2	2	3	5	2			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr11:123901193C>T	uc001pzp.1	+	0	864	c.864C>T	c.(862-864)acC>acT	p.T288T		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TTGTGTACACCCTGAGGAACA	0.468													7	77					0	0	1	0	0	T	123901193	C	T	123901193	2	4	202	1	0	0	0	0	0	0	0	1	10903	610	22	3		3	OR10G8	11	123901193	Silent	SNP	C	TCGA-HT-7692-01A-12D-2253-08	55959901	123901193	11105323	17	8733											
PFDN5	5204	broad.mit.edu	37	chr12	53689235	53689235	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctccttcccttccgggacgGaggatcatagagctgtctgg	6	10	12	13	2	2	1	1	0	1	1	5	4	5	4	4	4	1	1	4	4	1	3			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr12:53689235G>A	uc001scl.3	+	1	1	c.-116_splice	c.e1-1		PFDN5_uc001scm.3_Splice_Site|PFDN5_uc001scn.3_Splice_Site|PFDN5_uc001sco.3_Splice_Site	NM_002624	NP_002615	Q99471	PFD5_HUMAN	Homo sapiens prefoldin subunit 5 (PFDN5), transcript variant 1, mRNA.						'de novo' posttranslational protein folding|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent	nucleus|prefoldin complex	transcription corepressor activity|unfolded protein binding			kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)	8						TTCCGGGACGGAGGATCATAG	0.552													8	12					0	0	1	0	0	A	53689235	G	A	53689235	5	1	202	1	0	0	0	0	0	0	1	0	11758	1188	41	3		3	PFDN5	12	53689235	Splice_Site	SNP	G	TCGA-HT-7692-01A-12D-2253-08		53689235	80162660	18	8734											
NAV3	89795	broad.mit.edu	37	chr12	78591057	78591057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatatctagctaacctggctGaacagtgcagtgctgataat	13	11	9	8	0	1	2	0	2	1	0	1	2	1	2	1	1	5	4	1	1	6	4			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr12:78591057G>A	uc001syp.3	+	34	6495	c.6322G>A	c.(6322-6324)Gaa>Aaa	p.E2108K	NAV3_uc001syo.3_Missense_Mutation_p.E2086K|NAV3_uc010sub.2_Missense_Mutation_p.E1565K|NAV3_uc009zsf.3_Missense_Mutation_p.E917K	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	2108						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TAACCTGGCTGAACAGTGCAG	0.338										HNSCC(70;0.22)			3	43					0	0	1	0	0	A	78591057	G	A	78591057	3	1	202	1	0	0	0	0	1	0	0	0	10185	1291	45	3	6390	3	NAV3	12	78591057	Missense_Mutation	SNP	G	TCGA-HT-7692-01A-12D-2253-08	24901822	78591057	55260838	19	8735											
DISP2	85455	broad.mit.edu	37	chr15	40656656	40656656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgagtggccagtggccGtgctgatgctgtgtctggct	3	13	16	9	1	1	2	0	2	1	0	1	2	1	2	2	3	3	4	2	3	0	1			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr15:40656656G>A	uc001zlk.1	+	3	603	c.514G>A	c.(514-516)Gtg>Atg	p.V172M		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA.	172					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GCCAGTGGCCGTGCTGATGCT	0.602													4	139					0	0	1	0	0	A	40656656	G	A	40656656	3	1	202	1	0	0	0	0	1	0	0	0	4540	1145	40	1	528	1	DISP2	15	40656656	Missense_Mutation	SNP	G	TCGA-HT-7692-01A-12D-2253-08		40656656	61874736	20	8736											
SHBG	6462	broad.mit.edu	37	chr17	7535330	7535330	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtctccacctccaagaTcaagtaaagggggacagtgg	12	7	11	11	0	3	1	2	0	1	1	5	2	4	2	3	3	0	1	3	3	4	1			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr17:7535330T>C	uc002gie.2	+	5	887	c.849T>C	c.(847-849)gaT>gaC	p.D283D	SHBG_uc010cmu.2_Silent_p.D225D|SHBG_uc010cmo.2_Silent_p.D171D|SHBG_uc010cmp.2_Intron|SHBG_uc010cmq.2_Silent_p.D171D|SHBG_uc010cmr.2_Intron|SHBG_uc010cms.2_Intron|SHBG_uc010cmt.2_Silent_p.D225D|SHBG_uc010cmz.2_Intron|SHBG_uc010cmv.2_Silent_p.D171D|SHBG_uc010cmw.2_Intron|SHBG_uc010cmx.2_Intron|SHBG_uc010cmy.2_Silent_p.D225D|SHBG_uc002gid.3_Silent_p.D225D|SHBG_uc010cnd.2_Intron|SHBG_uc010cna.2_Intron|SHBG_uc010vue.1_Silent_p.D265D|SHBG_uc010vuf.1_Silent_p.D283D|SHBG_uc010cnb.2_Intron|SHBG_uc010cnc.2_Silent_p.D229D	NM_001040	NP_001031	P04278	SHBG_HUMAN	Homo sapiens sex hormone-binding globulin (SHBG), transcript variant 1, mRNA.	283	Laminin G-like 2.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	ACCTCCAAGATCAAGTAAAGG	0.542													21	120					0	0	1	0	0	C	7535330	T	C	7535330	2	2	202	1	0	0	0	0	0	0	0	1	14269	1432	50	3		3	SHBG	17	7535330	Silent	SNP	T	TCGA-HT-7692-01A-12D-2253-08		7535330	73659880	21	8737											
TNFRSF13B	23495	broad.mit.edu	37	chr17	16852148	16852148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actccgctgtctcctgagctCtggtggaaggttcactgggc	5	11	13	12	1	3	1	1	1	2	0	5	2	4	2	2	4	1	3	2	4	1	1			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr17:16852148C>T	uc002gqs.1	-	2	362	c.349G>A	c.(349-351)Gag>Aag	p.E117K	TNFRSF13B_uc010vwt.1_Non-coding_Transcript|TNFRSF13B_uc002gqt.1_Missense_Mutation_p.E71K	NM_012452	NP_036584	O14836	TR13B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 13B (TNFRSF13B), mRNA.	117					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						CTCCTGAGCTCTGGTGGAAGG	0.522									IgA Deficiency, Selective				71	105					0	0	1	0	0	T	16852148	C	T	16852148	3	4	202	1	0	0	0	0	1	0	0	0	16284	922	32	3	544	3	TNFRSF13B	17	16852148	Missense_Mutation	SNP	C	TCGA-HT-7692-01A-12D-2253-08	9316818	16852148	64343062	22	8738											
OR7D2	162998	broad.mit.edu	37	chr19	9296887	9296887	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccccacctctgtggcctcCtggtttttgtcacctggctc	3	13	8	17	0	2	0	1	0	1	0	4	0	3	0	6	3	0	2	6	3	0	2			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr19:9296887C>T	uc002mkz.1	+	0	618	c.430C>T	c.(430-432)Ctg>Ttg	p.L144L		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.	144					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CTGTGGCCTCCTGGTTTTTGT	0.478													19	187					0	0	1	0	0	T	9296887	C	T	9296887	2	4	202	1	0	0	0	0	0	0	0	1	11219	680	24	3		3	OR7D2	19	9296887	Silent	SNP	C	TCGA-HT-7692-01A-12D-2253-08		9296887	49832096	23	8739											
PPAN-P2RY11	692312	broad.mit.edu	37	chr19	10224314	10224314	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttctgcccacaggtgccAagtcctgccctgccaacttc	7	9	7	18	0	1	0	0	0	1	0	3	0	2	0	6	1	5	0	6	1	2	2			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr19:10224314A>T	uc002mnc.3	+	1	226	c.25A>T	c.(25-27)Aag>Tag	p.K9*	PPAN-P2RY11_uc002mna.3_Nonsense_Mutation_p.K429*|PPAN-P2RY11_uc010xla.2_Silent_p.P449P	NM_002566	NP_002557	Q9NQ55	SSF1_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 11 (P2RY11), mRNA.	0					RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CACAGGTGCCAAGTCCTGCCC	0.617											OREG0025230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	23					0	0	1	0	0	T	10224314	A	T	10224314	4	4	202	1	0	0	0	0	0	1	0	0	12289	131	5	5		5	PPAN-P2RY11	19	10224314	Nonsense_Mutation	SNP	A	TCGA-HT-7692-01A-12D-2253-08	927427	10224314	48904669	24	8740											
FDX1L	112812	broad.mit.edu	37	chr19	10421614	10421614	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccagggaggcttcacaggCccctaggggtgggaagtgaa	9	5	18	9	0	1	1	1	1	0	0	1	3	1	3	3	7	0	1	3	7	3	2			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr19:10421614C>T	uc002mny.1	-	3	329	c.310G>A	c.(310-312)Gcc>Acc	p.A104T	ZGLP1_uc002mnw.4_5'Flank|FDX1L_uc002mnx.1_Non-coding_Transcript	NM_001031734	NP_001026904	Q6P4F2	ADXL_HUMAN	Homo sapiens ferredoxin 1-like (FDX1L), nuclear gene encoding mitochondrial protein, mRNA.	104	2Fe-2S ferredoxin-type.				electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			GCTTCACAGGCCCCTAGGGGT	0.617													8	38					0	0	1	0	0	T	10421614	C	T	10421614	3	4	202	1	0	0	0	0	1	0	0	0	5805	739	26	3	249	3	FDX1L	19	10421614	Missense_Mutation	SNP	C	TCGA-HT-7692-01A-12D-2253-08	197300	10421614	48707369	25	8741											
SLC4A11	83959	broad.mit.edu	37	chr20	3209830	3209830	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagccgaggcccatggcaccGctgacggccctcagggacag	9	3	14	15	3	1	1	1	1	0	0	1	3	1	2	4	4	1	2	4	4	1	0			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr20:3209830G>A	uc010zqe.2	-	15	2183	c.2058C>T	c.(2056-2058)agC>agT	p.S686S	SLC4A11_uc002wig.3_Silent_p.S659S|SLC4A11_uc002wih.3_Non-coding_Transcript|SLC4A11_uc010zqf.2_Silent_p.S643S	NM_001174090	NP_001167561	Q8NBS3	S4A11_HUMAN	Homo sapiens solute carrier family 4, sodium borate transporter, member 11 (SLC4A11), transcript variant 1, mRNA.	659	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CCATGGCACCGCTGACGGCCC	0.617													6	58					0	0	1	0	0	A	3209830	G	A	3209830	2	1	202	1	0	0	0	0	0	0	0	1	14652	1078	38	1		1	SLC4A11	20	3209830	Silent	SNP	G	TCGA-HT-7692-01A-12D-2253-08		3209830	59815690	26	8742											
CSRP2BP	57325	broad.mit.edu	37	chr20	18168088	18168088	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtaaacacgcattctttctGaggctccggcgctgatgcga	8	11	11	11	4	2	2	0	2	2	0	3	3	3	2	1	2	2	4	1	2	2	3			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr20:18168088G>A	uc021wbb.1	+	9	2771	c.2334G>A	c.(2332-2334)ctG>ctA	p.L778L	CSRP2BP_uc002wqk.3_Silent_p.L650L|CSRP2BP_uc010zru.2_Silent_p.L649L	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA.	778	N-acetyltransferase.				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						CATTCTTTCTGAGGCTCCGGC	0.413													49	60					0	0	1	0	0	A	18168088	G	A	18168088	2	1	202	1	0	0	0	0	0	0	0	1	3968	1277	45	3		3	CSRP2BP	20	18168088	Silent	SNP	G	TCGA-HT-7692-01A-12D-2253-08	14958258	18168088	44857432	27	8743											
FOXA2	3170	broad.mit.edu	37	chr20	22562677	22562677	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtccattttgtggggttgGtggtggtggtggctgtggtg	2	15	21	3	0	0	0	0	0	0	0	1	0	1	0	1	9	0	2	1	9	0	3			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr20:22562677G>C	uc002wsm.3	-	1	1388	c.1203C>G	c.(1201-1203)caC>caG	p.H401Q	FOXA2_uc002wsn.3_Missense_Mutation_p.H395Q	NM_021784	NP_710141	Q9Y261	FOXA2_HUMAN	Homo sapiens forkhead box A2 (FOXA2), transcript variant 1, mRNA.	395	Transactivation domain 2 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					TGTGGGGTtggtggtggtggt	0.612													3	37					0	0	1	0	0	C	22562677	G	C	22562677	3	2	202	1	0	0	0	0	1	0	0	0	5990	1252	44	5	192	5	FOXA2	20	22562677	Missense_Mutation	SNP	G	TCGA-HT-7692-01A-12D-2253-08	4394589	22562677	40462843	28	8744											
C20orf152	140894	broad.mit.edu	37	chr20	34618499	34618499	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttttatggcaccccagaaaTacctccccccattgaggatt	10	12	6	13	0	0	2	0	1	0	1	1	3	1	3	6	2	1	1	6	2	3	6			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr20:34618499T>C	uc002xer.1	+	11	1804	c.1648T>C	c.(1648-1650)Tac>Cac	p.Y550H	C20orf152_uc002xes.1_3'UTR|C20orf152_uc010gfp.1_Non-coding_Transcript	NM_080834	NP_543024	Q96M20	CT152_HUMAN	Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.	554										breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18	Breast(12;0.00631)					ACCCCAGAAATACCTCCCCCC	0.463													133	168					0	0	1	0	0	C	34618499	T	C	34618499	3	2	202	1	0	0	0	0	1	0	0	0	2092	1406	49	3	1694	3	C20orf152	20	34618499	Missense_Mutation	SNP	T	TCGA-HT-7692-01A-12D-2253-08	12055822	34618499	28407021	29	8745											
SLC5A3	6526	broad.mit.edu	37	chr21	35468232	35468232	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtaatgtctcccctaagaaAgaagccctgaaaatgctgcg	13	9	9	10	1	1	3	0	1	1	2	2	3	1	3	3	0	3	2	3	0	6	2			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr21:35468232A>G	uc021wir.1	+	0	735	c.735A>G	c.(733-735)aaA>aaG	p.K245K	SLC5A3_uc002yto.3_Silent_p.K245K|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	245						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CCCCTAAGAAAGAAGCCCTGA	0.453													49	74					0	0	1	0	0	G	35468232	A	G	35468232	2	3	202	1	0	0	0	0	0	0	0	1	14666	69	3	4		4	SLC5A3	21	35468232	Silent	SNP	A	TCGA-HT-7692-01A-12D-2253-08		35468232	12661663	30	8746											
KLHDC7A	127707	broad.mit.edu	37	chr1	18808237	18808237	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctgcatcagcaggagggCgcccccaactcctcctatac	9	6	8	18	1	1	0	1	0	0	0	3	1	3	1	5	2	4	2	5	2	3	2			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr1:18808237C>T	uc001bax.3	+	0	814	c.762C>T	c.(760-762)ggC>ggT	p.G254G	KLHDC7A_uc009vpg.3_Silent_p.G36G	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	254						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAGGAGGGCGCCCCCAACT	0.612													6	138					0	0	1	0	0	T	18808237	C	T	18808237	2	4	203	1	0	0	0	0	0	0	0	1	8360	755	27	1		1	KLHDC7A	1	18808237	Silent	SNP	C	TCGA-HT-7693-01A-11D-2253-08		18808237	230442384	1	8747											
OR6N2	81442	broad.mit.edu	37	chr1	158747181	158747181	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcactgagaatattagacAacatcttagggatagtggta	14	12	9	6	0	2	2	1	1	2	2	3	4	2	3	0	2	1	1	0	2	7	5			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr1:158747181A>G	uc010pir.2	-	0	245	c.245T>C	c.(244-246)tTg>tCg	p.L82S		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M81L(1)		endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					AATATTAGACAACATCTTAGG	0.448													9	149					0	0	1	0	0	G	158747181	A	G	158747181	3	3	203	1	0	0	0	0	1	0	0	0	11207	131	5	3	711	3	OR6N2	1	158747181	Missense_Mutation	SNP	A	TCGA-HT-7693-01A-11D-2253-08	139938944	158747181	90503440	2	8748											
SELE	6401	broad.mit.edu	37	chr1	169699643	169699643	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtctccatgctgcttggCaggtaacccctatcacagct	8	11	9	13	0	2	0	1	0	1	0	3	0	2	0	3	3	4	5	3	3	2	3			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr1:169699643C>A	uc001ggm.4	-	4	802	c.645G>T	c.(643-645)ctG>ctT	p.L215L	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	215	Sushi 1.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TGCTGCTTGGCAGGTAACCCC	0.512													5	130					2.7689e-08	2.82017e-08	1	1	0	A	169699643	C	A	169699643	2	1	203	1	0	0	0	0	0	0	0	1	14013	697	25	5		5	SELE	1	169699643	Silent	SNP	C	TCGA-HT-7693-01A-11D-2253-08	10952462	169699643	79550978	3	8749											
COLEC11	78989	broad.mit.edu	37	chr2	3691639	3691639	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagatggtggcctcgggCggctggaacgacgtggcctg	5	7	20	9	4	0	1	0	0	0	1	1	4	0	2	2	7	1	1	2	7	1	0			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr2:3691639C>T	uc002qya.3	+	6	895	c.747C>T	c.(745-747)ggC>ggT	p.G249G	COLEC11_uc002qxz.3_Silent_p.G246G|COLEC11_uc002qyb.3_Silent_p.G225G|COLEC11_uc002qyc.3_Silent_p.G225G|COLEC11_uc010ewo.3_Silent_p.G201G|COLEC11_uc010ewp.3_Silent_p.G223G|COLEC11_uc010ewq.3_Silent_p.G199G|COLEC11_uc010ewr.3_Silent_p.G199G|COLEC11_uc010ews.3_Silent_p.G175G	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN	Homo sapiens collectin sub-family member 11 (COLEC11), transcript variant 1, mRNA.	249	C-type lectin.					collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		TGGCCTCGGGCGGCTGGAACG	0.617													47	59					0	0	1	0	0	T	3691639	C	T	3691639	2	4	203	1	0	0	0	0	0	0	0	1	3711	755	27	1		1	COLEC11	2	3691639	Silent	SNP	C	TCGA-HT-7693-01A-11D-2253-08		3691639	239507734	4	8750											
XDH	7498	broad.mit.edu	37	chr2	31589846	31589846	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagaagtgctcttggccacCgatgtatatctcccctgggg	7	11	12	11	1	2	1	0	0	2	1	3	2	2	1	4	3	1	3	4	3	4	4			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr2:31589846C>T	uc002rnv.1	-	20	2291	c.2212G>A	c.(2212-2214)Ggt>Agt	p.G738S		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	738					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TCTTGGCCACCGATGTATATC	0.537													8	117					0	0	1	0	0	T	31589846	C	T	31589846	3	4	203	1	0	0	0	0	1	0	0	0	17423	652	23	2	1853	2	XDH	2	31589846	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08	27898207	31589846	211609527	5	8751											
LRP2	4036	broad.mit.edu	37	chr2	170026253	170026253	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catccaaacagtcagcggatCcatcgcatttcagttcactg	11	10	7	13	2	3	0	3	0	0	0	6	1	5	1	2	1	2	2	2	1	1	2			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr2:170026253C>A	uc002ues.3	-	59	11669	c.11456G>T	c.(11455-11457)gGa>gTa	p.G3819V		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3819	LDL-receptor class A 33.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTCAGCGGATCCATCGCATTT	0.428													17	108					1.67942e-08	1.74279e-08	1	1	0	A	170026253	C	A	170026253	3	1	203	1	0	0	0	0	1	0	0	0	8956	855	30	5	2591	5	LRP2	2	170026253	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08	138436407	170026253	73173120	6	8752											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr2:209113113G>A	uc002vcs.3	-	3	640	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_uc002vct.3_Missense_Mutation_p.R132C|IDH1_uc002vcu.3_Missense_Mutation_p.R132C	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								40	46					0	0	1	0	0	A	209113113	G	A	209113113	3	1	203	1	0	0	0	0	1	0	0	0	7494	1058	37	2	878	2	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08	39086860	209113113	34086260	7	8753											
FYCO1	79443	broad.mit.edu	37	chr3	46023170	46023170	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttagttctgtcacagcatcTttaagacaacaaataggaac	15	11	6	9	0	3	1	1	0	2	1	3	2	3	2	0	1	3	2	0	1	6	5			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr3:46023170T>C	uc011bal.1	-	2	168	c.56_splice	c.e2-1	p.D19_splice	FYCO1_uc003cpb.4_Splice_Site_p.D19_splice	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	19					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TCACAGCATCTTTAAGACAAC	0.408													26	33					0	0	1	0	0	C	46023170	T	C	46023170	5	2	203	1	0	0	0	0	0	0	1	0	6125	1623	56	4	4446	4	FYCO1	3	46023170	Splice_Site	SNP	T	TCGA-HT-7693-01A-11D-2253-08		46023170	151999260	8	8754											
EPHA3	2042	broad.mit.edu	37	chr3	89480429	89480429	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggaacatcttgatcaacAgtaacttggtgtgtaaggtt	11	13	10	7	1	2	1	1	1	1	0	3	2	2	2	0	3	3	3	0	3	4	5			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr3:89480429A>G	uc003dqy.3	+	12	2491	c.2266A>G	c.(2266-2268)Agt>Ggt	p.S756G	EPHA3_uc021xbf.1_Missense_Mutation_p.S756G	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	756	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CTTGATCAACAGTAACTTGGT	0.478										TSP Lung(6;0.00050)			18	37					0	0	1	0	0	G	89480429	A	G	89480429	3	3	203	1	0	0	0	0	1	0	0	0	5168	188	7	4	2342	4	EPHA3	3	89480429	Missense_Mutation	SNP	A	TCGA-HT-7693-01A-11D-2253-08	43457259	89480429	108542001	9	8755											
SULT1E1	6783	broad.mit.edu	37	chr4	70709895	70709895	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccctttctcatgaagggCgacaatttctggttcataat	10	14	7	10	1	4	1	3	1	2	0	5	2	4	1	1	2	0	1	1	2	3	4			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr4:70709895C>T	uc003heo.3	-	6	869	c.756G>A	c.(754-756)tcG>tcA	p.S252S		NM_005420	NP_005411	P49888	ST1E1_HUMAN	Homo sapiens sulfotransferase family 1E, estrogen-preferring, member 1 (SULT1E1), mRNA.	252					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TCATGAAGGGCGACAATTTCT	0.393													58	124					0	0	1	0	0	T	70709895	C	T	70709895	2	4	203	1	0	0	0	0	0	0	0	1	15377	755	27	1		1	SULT1E1	4	70709895	Silent	SNP	C	TCGA-HT-7693-01A-11D-2253-08		70709895	120444381	10	8756											
SLCO4C1	353189	broad.mit.edu	37	chr5	101631898	101631898	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgggagggcgacgcagaCaagcggcgcaggatgtctgg	9	6	18	8	4	1	1	0	0	1	1	1	4	1	3	0	5	1	2	0	5	1	1			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr5:101631898C>G	uc003knm.3	-	0	356	c.69G>C	c.(67-69)ttG>ttC	p.L23F		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	23					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GCGACGCAGACAAGCGGCGCA	0.577													21	31					0	0	1	0	0	G	101631898	C	G	101631898	3	3	203	1	0	0	0	0	1	0	0	0	14730	477	17	5	2157	5	SLCO4C1	5	101631898	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08		101631898	79283362	11	8757											
TRIM41	90933	broad.mit.edu	37	chr5	180651435	180651435	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatggaggaggaggacctgAggggggaggatgaggaggac	12	3	22	4	0	0	2	0	2	0	0	0	10	0	10	1	10	0	0	1	10	0	0			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr5:180651435A>T	uc003mne.2	+	0	1173	c.436A>T	c.(436-438)Agg>Tgg	p.R146W	TRNA_Lys_uc021ykf.1_5'Flank|TRNA_Val_uc021ykg.1_5'Flank|MIR4638_uc021ykh.1_5'Flank|AX748230_uc003mnb.1_3'UTR|TRIM41_uc003mnc.2_Missense_Mutation_p.R146W|TRIM41_uc003mnd.2_Missense_Mutation_p.R146W|TRIM41_uc003mnf.2_Non-coding_Transcript	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	Homo sapiens tripartite motif containing 41 (TRIM41), transcript variant 1, mRNA.	146	Glu-rich.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ggaggacctgaggggggagga	0.627													28	47					0	0	1	0	0	T	180651435	A	T	180651435	3	4	203	1	0	0	0	0	1	0	0	0	16513	295	11	5	438	5	TRIM41	5	180651435	Missense_Mutation	SNP	A	TCGA-HT-7693-01A-11D-2253-08	79019537	180651435	263825	12	8758											
FILIP1	27145	broad.mit.edu	37	chr6	76024718	76024718	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgagcttctcttcttctTccctcagcttctgagtaaga	6	17	6	12	0	5	3	1	2	4	1	7	3	6	3	1	0	2	3	1	0	1	7			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr6:76024718T>C	uc010kbe.3	-	5	1369	c.839A>G	c.(838-840)gAa>gGa	p.E280G	FILIP1_uc003phy.1_Missense_Mutation_p.E277G|FILIP1_uc003phz.3_Missense_Mutation_p.E178G|FILIP1_uc003pia.3_Missense_Mutation_p.E277G|FILIP1_uc003pib.1_Missense_Mutation_p.E29G	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	277										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTCTTCTTCTTCCCTCAGCTT	0.423													4	87					0	0	1	0	0	C	76024718	T	C	76024718	3	2	203	1	0	0	0	0	1	0	0	0	5894	1783	62	3	2819	3	FILIP1	6	76024718	Missense_Mutation	SNP	T	TCGA-HT-7693-01A-11D-2253-08		76024718	95090349	13	8759											
LPA	4018	broad.mit.edu	37	chr6	161016555	161016555	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tctggattcctgcagtagttCctggtcaggccactgcaaat	8	12	10	11	0	2	0	1	0	1	0	4	1	4	1	3	3	2	4	3	3	2	3			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr6:161016555C>G	uc003qtl.3	-	21	3420	c.3300G>C	c.(3298-3300)agG>agC	p.R1100S		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3608	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGCAGTAGTTCCTGGTCAGGC	0.498													6	66					0	0	1	0	0	G	161016555	C	G	161016555	3	3	203	1	0	0	0	0	1	0	0	0	8903	854	30	5	2898	5	LPA	6	161016555	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08	84991837	161016555	10098512	14	8760											
C8orf47	203111	broad.mit.edu	37	chr8	99101917	99101917	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctagaaacaatttccaaagaGaatgaatctccagaaatatt	19	10	5	7	0	1	4	0	1	1	3	3	5	2	4	2	0	1	0	2	0	8	4			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr8:99101917G>C	uc003yih.1	+	1	820	c.672G>C	c.(670-672)gaG>gaC	p.E224D	C8orf47_uc022ayz.1_Intron	NM_173549	NP_775820	Q6P6B1	CH047_HUMAN	Homo sapiens chromosome 8 open reading frame 47 (C8orf47), transcript variant 1, mRNA.	224	Glu-rich.									kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			TTTCCAAAGAGAATGAATCTC	0.483													17	33					0	0	1	0	0	C	99101917	G	C	99101917	3	2	203	1	0	0	0	0	1	0	0	0	2432	933	33	5	678	5	C8orf47	8	99101917	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08		99101917	47262105	15	8761											
ZFAT	57623	broad.mit.edu	37	chr8	135649705	135649705	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctttggcagcatttaccTgcttctccttcctcctcacc	4	14	5	18	0	2	0	1	0	1	0	5	0	4	0	6	1	3	3	6	1	1	5			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr8:135649705T>C	uc003yup.3	-	3	634	c.448_splice	c.e3+1	p.G150_splice	ZFAT_uc003yun.3_Splice_Site_p.G138_splice|ZFAT_uc003yuo.3_Splice_Site_p.G138_splice|ZFAT_uc010meh.3_Splice_Site_p.G138_splice|ZFAT_uc010mej.3_Splice_Site_p.G150_splice|ZFAT_uc010mei.3_Splice_Site|ZFAT_uc003yuq.3_Splice_Site_p.G138_splice|ZFAT_uc003yur.3_Splice_Site_p.G138_splice	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AGCATTTACCTGCTTCTCCTT	0.468													75	105					0	0	1	0	0	C	135649705	T	C	135649705	5	2	203	1	0	0	0	0	0	0	1	0	17629	1594	55	4	3340	4	ZFAT	8	135649705	Splice_Site	SNP	T	TCGA-HT-7693-01A-11D-2253-08	36547788	135649705	10714317	16	8762											
PTCH1	5727	broad.mit.edu	37	chr9	98270593	98270595	+	In_Frame_Del	DEL	GCC	GCC	-																															ggggcaccgatacagccgctGccgccgccgccgcggtcctg																										TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr9:98270593_98270595delGCC	uc004avk.4	-	0	237_239	c.49_51delGGC	c.(49-51)ggcdel	p.G17del	PTCH1_uc010mro.3_5'Flank|PTCH1_uc010mrp.3_5'Flank|PTCH1_uc010mrq.3_5'Flank|PTCH1_uc004avl.4_5'Flank|PTCH1_uc004avm.4_Intron|PTCH1_uc010mrr.3_Intron|PTCH1_uc010mrt.1_5'Flank|PTCH1_uc010mru.1_5'Flank|PTCH1_uc004avo.2_Intron|PTCH1_uc010mrv.1_Intron|PTCH1_uc010mrw.1_Intron	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	17	Gly-rich.				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TACAGCCGCTGCCGCCGCCGCCG	0.813													2	4	---	---	---	---						-	98270595	GCC	-	98270593	7	5	203	1	0	1	0	1	0	0	0	0	12730	1306	46	0	4384	0	PTCH1	9	98270593	In_Frame_Del	DEL	GCC	TCGA-HT-7693-01A-11D-2253-08		98270593	42942838	17	8763											
OR5C1	392391	broad.mit.edu	37	chr9	125551909	125551909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggggctgtgatccacatgcGctcggtcgagggcagtcggc	5	8	17	11	4	0	1	0	1	0	0	4	2	1	1	1	5	1	3	1	5	0	0			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr9:125551909G>A	uc011lzd.2	+	0	698	c.698G>A	c.(697-699)cGc>cAc	p.R233H		NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily C, member 1 (OR5C1), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						ATCCACATGCGCTCGGTCGAG	0.592													6	77					0	0	1	0	0	A	125551909	G	A	125551909	3	1	203	1	0	0	0	0	1	0	0	0	11153	1087	38	1	700	1	OR5C1	9	125551909	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08	27281316	125551909	15661522	18	8764											
CACNB2	783	broad.mit.edu	37	chr10	18787332	18787332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaatgtcagctacagtgcgGcccatgaagatgatgttcca	12	9	10	10	1	1	3	1	2	0	1	2	3	2	3	2	1	3	2	2	1	3	2			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr10:18787332G>A	uc001ipr.2	+	3	442	c.382G>A	c.(382-384)Gcc>Acc	p.A128T	CACNB2_uc001ipt.2_Missense_Mutation_p.A128T|CACNB2_uc009xjz.1_Missense_Mutation_p.A128T|CACNB2_uc001ips.2_Missense_Mutation_p.A128T|CACNB2_uc010qcl.2_Non-coding_Transcript|CACNB2_uc001ipu.3_Missense_Mutation_p.A100T|CACNB2_uc001ipv.3_Missense_Mutation_p.A100T|CACNB2_uc009xka.2_Missense_Mutation_p.A100T|CACNB2_uc001ipw.2_Missense_Mutation_p.A73T|CACNB2_uc001ipx.2_Missense_Mutation_p.A73T|CACNB2_uc009xkb.1_Missense_Mutation_p.A74T|CACNB2_uc010qcm.2_Missense_Mutation_p.A74T|CACNB2_uc001ipz.2_Missense_Mutation_p.A74T|CACNB2_uc001ipy.2_Missense_Mutation_p.A74T|CACNB2_uc010qcn.2_Missense_Mutation_p.A80T|CACNB2_uc010qco.1_Missense_Mutation_p.A80T|CACNB2_uc001iqa.2_Missense_Mutation_p.A80T	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	128	SH3.				axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTACAGTGCGGCCCATGAAGA	0.423													4	81					0	0	1	0	0	A	18787332	G	A	18787332	3	1	203	1	0	0	0	0	1	0	0	0	2553	1203	42	3	616	3	CACNB2	10	18787332	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08		18787332	116747415	19	8765											
CD248	57124	broad.mit.edu	37	chr11	66084109	66084109	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcctccagggccacacaGcgctgggccgggcaggggcc	5	4	16	16	2	0	0	0	0	0	0	1	0	1	0	5	5	2	2	5	5	0	1			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr11:66084109G>A	uc001ohm.1	-	0	407	c.390C>T	c.(388-390)cgC>cgT	p.R130R		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	130	C-type lectin.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	GGGCCACACAGCGCTGGGCCG	0.701													31	17					0	0	1	0	0	A	66084109	G	A	66084109	2	1	203	1	0	0	0	0	0	0	0	1	2989	958	34	3		3	CD248	11	66084109	Silent	SNP	G	TCGA-HT-7693-01A-11D-2253-08		66084109	68922407	20	8766											
FAM76B	143684	broad.mit.edu	37	chr11	95512812	95512812	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gattccaatttgggctttttCtttggagtttcattctgaat	7	20	8	6	0	3	1	1	1	2	0	4	3	4	2	1	2	0	2	1	2	2	7			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr11:95512812C>G	uc001pfn.2	-	6	963	c.651G>C	c.(649-651)aaG>aaC	p.K217N	FAM76B_uc001pfm.2_Non-coding_Transcript	NM_144664	NP_653265	Q5HYJ3	FA76B_HUMAN	Homo sapiens family with sequence similarity 76, member B (FAM76B), mRNA.	217										breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGGGCTTTTTCTTTGGAGTTT	0.308													14	126					0	0	1	0	0	G	95512812	C	G	95512812	3	3	203	1	0	0	0	0	1	0	0	0	5625	912	32	5	384	5	FAM76B	11	95512812	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08	29428703	95512812	39493704	21	8767											
MGAT4C	25834	broad.mit.edu	37	chr12	86373270	86373270	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cataacgttttccccaacatCtagggctccatgatgcaaaa	13	10	6	12	1	1	1	0	1	1	0	3	1	3	1	3	1	3	3	3	1	5	4			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr12:86373270C>G	uc010sum.2	-	5	1465	c.1306G>C	c.(1306-1308)Gat>Cat	p.D436H	MGAT4C_uc001tal.4_Missense_Mutation_p.D412H|MGAT4C_uc001taj.4_Missense_Mutation_p.D412H|MGAT4C_uc001tak.4_Missense_Mutation_p.D412H|MGAT4C_uc001tai.4_Missense_Mutation_p.D412H|MGAT4C_uc001tah.4_Missense_Mutation_p.D412H	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	412					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TCCCCAACATCTAGGGCTCCA	0.318													4	52					0	0	1	0	0	G	86373270	C	G	86373270	3	3	203	1	0	0	0	0	1	0	0	0	9547	913	32	5	206	5	MGAT4C	12	86373270	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08		86373270	47478625	22	8768											
HECTD1	25831	broad.mit.edu	37	chr14	31590686	31590686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagcgggagccagctcgaCgttgcagggatgggcgtctc	7	6	17	11	4	1	1	0	0	1	1	3	4	1	3	1	3	4	3	1	3	0	1			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr14:31590686C>T	uc001wrc.1	-	27	5630	c.5141G>A	c.(5140-5142)cGt>cAt	p.R1714H	HECTD1_uc001wra.1_5'UTR|HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Missense_Mutation_p.R1182H	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	1714					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GCCAGCTCGACGTTGCAGGGA	0.507													15	31					0	0	1	0	0	T	31590686	C	T	31590686	3	4	203	1	0	0	0	0	1	0	0	0	7039	536	19	1	2755	1	HECTD1	14	31590686	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08		31590686	75758854	23	8769											
PNN	5411	broad.mit.edu	37	chr14	39648579	39648579	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taattaaatatataagaactAagacaaagccccatttgttt	18	13	4	6	0	0	2	0	0	0	2	0	2	0	2	2	0	2	1	2	0	9	8			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr14:39648579A>G	uc001wuw.4	+	7	803	c.706A>G	c.(706-708)Aag>Gag	p.K236E		NM_002687	NP_002678	Q9H307	PININ_HUMAN	Homo sapiens pinin, desmosome associated protein (PNN), mRNA.	236	Glu-rich.|Necessary for interaction with RNPS1.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		TATAAGAACTAAGACAAAGCC	0.338													3	24					0	0	1	0	0	G	39648579	A	G	39648579	3	3	203	1	0	0	0	0	1	0	0	0	12160	363	13	3	736	3	PNN	14	39648579	Missense_Mutation	SNP	A	TCGA-HT-7693-01A-11D-2253-08	8057893	39648579	67700961	24	8770											
TP53BP1	7158	broad.mit.edu	37	chr15	43701105	43701105	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatacttaccagtccagaaTtctttgctcctcaaggctgt	11	13	6	11	0	2	1	1	0	1	1	4	1	4	1	3	1	3	2	3	1	5	4			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr15:43701105T>C	uc001zrs.3	-	25	5723	c.5575A>G	c.(5575-5577)Att>Gtt	p.I1859V	TP53BP1_uc010udp.2_Missense_Mutation_p.I1857V|TP53BP1_uc001zrq.4_Missense_Mutation_p.I1862V|TP53BP1_uc001zrr.4_Missense_Mutation_p.I1864V|TP53BP1_uc001zrp.3_Missense_Mutation_p.I276V	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	1859					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CAGTCCAGAATTCTTTGCTCC	0.473								Other conserved DNA damage response genes					6	91					0	0	1	0	0	C	43701105	T	C	43701105	3	2	203	1	0	0	0	0	1	0	0	0	16380	1493	52	3	355	3	TP53BP1	15	43701105	Missense_Mutation	SNP	T	TCGA-HT-7693-01A-11D-2253-08		43701105	58830287	25	8771											
SBK1	388228	broad.mit.edu	37	chr16	28331453	28331453	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagctgggcctggcgctGgacttcatgcacgggcggca	6	6	16	13	3	1	0	1	0	0	0	1	1	1	1	1	5	3	5	1	5	0	1			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr16:28331453G>C	uc002dpd.3	+	3	1275	c.486G>C	c.(484-486)ctG>ctC	p.L162L		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	Homo sapiens SH3-binding domain kinase 1 (SBK1), mRNA.	162	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						GCCTGGCGCTGGACTTCATGC	0.692													2	9					0	0	1	0	0	C	28331453	G	C	28331453	2	2	203	1	0	0	0	0	0	0	0	1	13860	1335	47	5		5	SBK1	16	28331453	Silent	SNP	G	TCGA-HT-7693-01A-11D-2253-08		28331453	62023300	26	8772											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			28	2					0	0	1	0	0	A	7577121	G	A	7577121	3	1	203	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08		7577121	73618089	27	8773											
NOS2	4843	broad.mit.edu	37	chr17	26116671	26116671	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcggggactcattctgctGcttgctgaggttgtgatact	5	14	13	9	1	2	2	1	2	1	0	2	3	2	3	0	3	5	4	0	3	1	4			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr17:26116671G>A	uc002gzu.3	-	2	418	c.154C>T	c.(154-156)Cag>Tag	p.Q52*	NOS2_uc010crh.1_Nonsense_Mutation_p.Q52*|NOS2_uc010wab.1_Nonsense_Mutation_p.Q52*	NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	52					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	FMN binding|NADP binding|arginine binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TCATTCTGCTGCTTGCTGAGG	0.567													8	184					0	0	1	0	0	A	26116671	G	A	26116671	4	1	203	1	0	0	0	0	0	1	0	0	10543	1328	46	3	3407	3	NOS2	17	26116671	Nonsense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08	18539550	26116671	55078539	28	8774											
NLRP5	126206	broad.mit.edu	37	chr19	56539141	56539141	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcagctcacccctcgaggCgtggtccggcgctgtctcaa	6	8	11	16	4	3	0	3	0	1	0	6	1	4	0	3	3	1	2	3	3	1	0			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr19:56539141C>T	uc002qmj.3	+	6	1542	c.1542C>T	c.(1540-1542)ggC>ggT	p.G514G	NLRP5_uc002qmi.3_Silent_p.G495G	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	514	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCCCTCGAGGCGTGGTCCGGC	0.592													14	16					0	0	1	0	0	T	56539141	C	T	56539141	2	4	203	1	0	0	0	0	0	0	0	1	10480	755	27	1		1	NLRP5	19	56539141	Silent	SNP	C	TCGA-HT-7693-01A-11D-2253-08		56539141	2589842	29	8775											
KRTAP13-3	337960	broad.mit.edu	37	chr21	31798186	31798186	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtagtgcaagtaacccccGtgggagcaggaggagaagtt	11	6	17	7	1	0	1	0	0	0	1	0	4	0	3	2	4	3	5	2	4	4	3			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr21:31798186G>A	uc002yob.1	-	0	45	c.45C>T	c.(43-45)caC>caT	p.H15H		NM_181622	NP_853653	Q3SY46	KR133_HUMAN	Homo sapiens keratin associated protein 13-3 (KRTAP13-3), mRNA.	15						intermediate filament				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						AGTAACCCCCGTGGGAGCAGG	0.542													67	83					0	0	1	0	0	A	31798186	G	A	31798186	2	1	203	1	0	0	0	0	0	0	0	1	8524	1136	40	1		1	KRTAP13-3	21	31798186	Silent	SNP	G	TCGA-HT-7693-01A-11D-2253-08		31798186	16331709	30	8776											
CELSR1	9620	broad.mit.edu	37	chr22	46793715	46793715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcatgttcagggtggcgaCgttggtgggcgtccccccca	4	10	15	12	3	2	0	2	0	0	0	3	1	3	0	3	4	0	3	3	4	0	3			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr22:46793715C>T	uc003bhw.1	-	11	5557	c.5557G>A	c.(5557-5559)Gtc>Atc	p.V1853I	CELSR1_uc011arc.1_Missense_Mutation_p.V174I	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1853	Laminin G-like 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGGGTGGCGACGTTGGTGGGC	0.602													14	16					0	0	1	0	0	T	46793715	C	T	46793715	3	4	203	1	0	0	0	0	1	0	0	0	3221	536	19	1	3583	1	CELSR1	22	46793715	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08		46793715	4510851	31	8777											
PAGE1	8712	broad.mit.edu	37	chrX	49455852	49455852	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcttaatggactacctacCttctgcgggcagtttcatct	8	14	8	11	1	3	0	1	0	2	0	3	1	3	1	2	2	4	3	2	2	3	5			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:49455852C>T	uc004dom.3	-	4	425	c.292_splice	c.e4+1	p.G98_splice		NM_003785	NP_003776	O75459	GAGB1_HUMAN	Homo sapiens P antigen family, member 1 (prostate associated) (PAGE1), mRNA.	98					cellular defense response					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					GACTACCTACCTTCTGCGGGC	0.468													13	52					0	0	1	0	0	T	49455852	C	T	49455852	5	4	203	1	0	0	0	0	0	0	1	0	11389	695	24	3	160	3	PAGE1	23	49455852	Splice_Site	SNP	C	TCGA-HT-7693-01A-11D-2253-08		49455852	105814708	32	8778											
TSR2	90121	broad.mit.edu	37	chrX	54470611	54470611	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgtggacagtgtggaagaGatggaggtgaagtgggtgcc	10	8	20	3	0	0	2	0	1	0	1	0	7	0	5	1	5	1	0	1	5	2	0			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:54470611G>C	uc004dte.3	+	3	437	c.435G>C	c.(433-435)gaG>gaC	p.E145D	TSR2_uc004dtf.3_Missense_Mutation_p.E50D	NM_058163	NP_477511	Q969E8	TSR2_HUMAN	Homo sapiens TSR2, 20S rRNA accumulation, homolog (S. cerevisiae) (TSR2), mRNA.	145					rRNA processing		protein binding			breast(1)|endometrium(3)|lung(2)	6						GTGTGGAAGAGATGGAGGTGA	0.498													65	86					0	0	1	0	0	C	54470611	G	C	54470611	3	2	203	1	0	0	0	0	1	0	0	0	16662	933	33	5	449	5	TSR2	23	54470611	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08	5014759	54470611	100799949	33	8779											
ARHGEF9	23229	broad.mit.edu	37	chrX	62917174	62917174	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccttctcttccggcactgcTtcagatagccctgtagacaa	8	11	7	15	1	2	2	1	0	1	2	4	2	3	2	3	1	2	3	3	1	3	5			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:62917174T>G	uc004dvl.2	-	3	1231	c.392A>C	c.(391-393)aAg>aCg	p.K131T	ARHGEF9_uc011mos.1_Missense_Mutation_p.K110T|ARHGEF9_uc004dvk.1_5'UTR|ARHGEF9_uc004dvm.1_Missense_Mutation_p.K110T|ARHGEF9_uc004dvj.2_Missense_Mutation_p.K29T|ARHGEF9_uc011mot.2_Missense_Mutation_p.K78T|ARHGEF9_uc004dvn.3_Missense_Mutation_p.K138T	NM_015185	NP_001166951	O43307	ARHG9_HUMAN	Homo sapiens Cdc42 guanine nucleotide exchange factor (GEF) 9 (ARHGEF9), transcript variant 1, mRNA.	131	DH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CCGGCACTGCTTCAGATAGCC	0.453													4	76					0	0	1	0	0	G	62917174	T	G	62917174	3	3	203	1	0	0	0	0	1	0	0	0	912	1609	56	5	1186	5	ARHGEF9	23	62917174	Missense_Mutation	SNP	T	TCGA-HT-7693-01A-11D-2253-08	8446563	62917174	92353386	34	8780											
TAF1	6872	broad.mit.edu	37	chrX	70618475	70618475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaagagatgcgaaaagaacGgcggaggattcaagagcaac	17	3	15	6	3	1	3	1	0	0	3	1	8	1	6	0	4	4	1	0	4	6	1			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:70618475G>A	uc004dzu.4	+	23	3722	c.3671G>A	c.(3670-3672)cGg>cAg	p.R1224Q	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.R1245Q|TAF1_uc004dzv.4_Missense_Mutation_p.R398Q	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	1224					G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CGAAAAGAACGGCGGAGGATT	0.473													24	34					0	0	1	0	0	A	70618475	G	A	70618475	3	1	203	1	0	0	0	0	1	0	0	0	15510	1116	39	2	3828	2	TAF1	23	70618475	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08	7701301	70618475	84652085	35	8781											
ATRX	546	broad.mit.edu	37	chrX	76813058	76813058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgctgctgatcaacaactCgaaaagacagtgactgctta	13	9	8	11	1	1	3	1	2	0	1	2	4	1	3	1	0	5	3	1	0	5	1			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:76813058C>T	uc004ecp.4	-	29	6795	c.6563G>A	c.(6562-6564)cGa>cAa	p.R2188Q	ATRX_uc004ecq.4_Missense_Mutation_p.R2150Q|ATRX_uc004eco.4_Missense_Mutation_p.R1973Q	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2188	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATCAACAACTCGAAAAGACAG	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						53	59					0	0	1	0	0	T	76813058	C	T	76813058	3	4	203	1	0	0	0	0	1	0	0	0	1208	884	31	2	939	2	ATRX	23	76813058	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08	6194583	76813058	78457502	36	8782											
HDX	139324	broad.mit.edu	37	chrX	83723854	83723854	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccattgcaatggacaaacAatttccttctgctgagctag	11	12	7	11	0	1	1	0	1	1	0	3	2	3	2	2	1	4	3	2	1	4	4			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:83723854A>G	uc011mqv.2	-	3	1124	c.877T>C	c.(877-879)Tgt>Cgt	p.C293R	HDX_uc004eel.2_Missense_Mutation_p.C235R|HDX_uc004eek.2_Missense_Mutation_p.C293R	NM_001177479	NP_001170949	Q7Z353	HDX_HUMAN	Homo sapiens highly divergent homeobox (HDX), transcript variant 1, mRNA.	293						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ATGGACAAACAATTTCCTTCT	0.473													9	121					0	0	1	0	0	G	83723854	A	G	83723854	3	3	203	1	0	0	0	0	1	0	0	0	7026	130	5	3	1227	3	HDX	23	83723854	Missense_Mutation	SNP	A	TCGA-HT-7693-01A-11D-2253-08	6910796	83723854	71546706	37	8783											
ALG13	79868	broad.mit.edu	37	chrX	110952273	110952273	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaatcaacaaacttttgaGtctgtaagtagaatacatac	18	11	6	6	0	2	2	1	1	1	1	2	3	2	2	0	0	4	2	0	0	9	6			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:110952273G>C	uc011msy.2	+	4	932	c.831G>C	c.(829-831)gaG>gaC	p.E277D	ALG13_uc011msw.2_Missense_Mutation_p.E199D|ALG13_uc011msx.2_Missense_Mutation_p.E173D|ALG13_uc011msz.2_Missense_Mutation_p.E199D|ALG13_uc011mta.2_Missense_Mutation_p.E173D|ALG13_uc011mtb.2_Missense_Mutation_p.E173D	NM_001099922	NP_001093392	Q9NP73	ALG13_HUMAN	Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.	277	OTU.				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity|carbohydrate binding			endometrium(2)|lung(10)|skin(1)	13						AAACTTTTGAGTCTGTAAGTA	0.388													3	7					0	0	1	0	0	C	110952273	G	C	110952273	3	2	203	1	0	0	0	0	1	0	0	0	515	1020	36	5	991	5	ALG13	23	110952273	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08	27228419	110952273	44318287	38	8784											
MMGT1	93380	broad.mit.edu	37	chrX	135047268	135047268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgaagaatttgctgtatccGaaggccggaaaagtactcga	13	10	11	7	3	0	2	0	1	0	1	2	5	1	3	2	2	2	3	2	2	7	4	rs150859420		TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:135047268G>A	uc011mvw.1	-	4	588	c.506C>T	c.(505-507)tCg>tTg	p.S169L	MMGT1_uc022cet.1_Missense_Mutation_p.S74L|MMGT1_uc004ezi.1_Missense_Mutation_p.S104L	NM_173470	NP_775741	Q8N4V1	MMGT1_HUMAN	Homo sapiens membrane magnesium transporter 1 (MMGT1), mRNA.	104						Golgi membrane|early endosome membrane|endoplasmic reticulum membrane|integral to membrane	magnesium ion transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)	3						TGCTGTATCCGAAGGCCGGAA	0.358													31	213					0	0	1	0	0	A	135047268	G	A	135047268	3	1	203	1	0	0	0	0	1	0	0	0	9647	1059	37	2	88	2	MMGT1	23	135047268	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08	24094995	135047268	20223292	39	8785											
AFF2	2334	broad.mit.edu	37	chrX	148035253	148035253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaatctaatgaggcacctcGtgtggcaactccagaggtga	11	8	12	10	2	1	3	0	2	1	1	3	4	2	3	2	3	1	2	2	3	3	1			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:148035253G>A	uc004fcp.3	+	9	2020	c.1541G>A	c.(1540-1542)cGt>cAt	p.R514H	AFF2_uc004fcq.3_Missense_Mutation_p.R504H|AFF2_uc004fcr.3_Missense_Mutation_p.R475H|AFF2_uc011mxb.2_Missense_Mutation_p.R479H|AFF2_uc004fcs.3_Missense_Mutation_p.R481H|AFF2_uc011mxc.2_Missense_Mutation_p.R155H	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	514					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.P513H(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGCACCTCGTGTGGCAACT	0.567													75	100					0	0	1	0	0	A	148035253	G	A	148035253	3	1	203	1	0	0	0	0	1	0	0	0	357	1145	40	1	1634	1	AFF2	23	148035253	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08	12987985	148035253	7235307	40	8786											
F8	2157	broad.mit.edu	37	chrX	154159216	154159216	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcagaggtccaccagacTcagtaaggggagatgacttt	12	8	12	9	0	2	4	2	1	0	3	3	5	3	4	2	3	1	2	2	3	1	2			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:154159216T>C	uc004fmt.3	-	13	3020	c.2849A>G	c.(2848-2850)gAg>gGg	p.E950G		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	950	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCCACCAGACTCAGTAAGGGG	0.373													5	110					0	0	1	0	0	C	154159216	T	C	154159216	3	2	203	1	0	0	0	0	1	0	0	0	5350	1551	54	4	4286	4	F8	23	154159216	Missense_Mutation	SNP	T	TCGA-HT-7693-01A-11D-2253-08	6123963	154159216	1111344	41	8787											
EIF2C1	26523	broad.mit.edu	37	chr1	36359738	36359739	+	Frame_Shift_Del	DEL	CT	CT	-																															cagcccaagcccctcacggaCtctcagcgcgttcgcttcac																										TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr1:36359738_36359739delCT	uc001bzl.3	+	5	963_964	c.750_751delCT	c.(748-753)gactctfs	p.D250fs	EIF2C1_uc001bzk.3_Frame_Shift_Del_p.D175fs|EIF2C1_uc009vuy.3_5'Flank	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.	250	PAZ.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding			biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCCTCACGGACTCTCAGCGCGT	0.55													11	49	---	---	---	---						-	36359739	CT	-	36359738	7	5	204	1	0	1	0	1	0	0	0	0	5005	564	20	0	772	0	EIF2C1	1	36359738	Frame_Shift_Del	DEL	CT	TCGA-HT-7694-01A-11D-2253-08		36359738	212890883	1	8788											
FUBP1	8880	broad.mit.edu	37	chr1	78422330	78422331	+	Frame_Shift_Del	DEL	AT	AT	-																															ggctgtgcttgctgttgataAtagtgagcgtaataagcagc																										TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr1:78422330_78422331delAT	uc001dii.3	-	16	1720_1721	c.1631_1632delAT	c.(1630-1632)tatfs	p.Y544fs	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Frame_Shift_Del_p.Y565fs	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	544	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GCTGTTGATAATAGTGAGCGTA	0.431			"F, N"		oligodendroglioma								36	74	---	---	---	---						-	78422331	AT	-	78422330	7	5	204	1	0	1	0	1	0	0	0	0	6092	108	4	0	318	0	FUBP1	1	78422330	Frame_Shift_Del	DEL	AT	TCGA-HT-7694-01A-11D-2253-08	42062592	78422330	170828291	2	8789											
ELTD1	64123	broad.mit.edu	37	chr1	79383689	79383689	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcacatccatgcaaaagcaGctaaaaagaagtagtgtagc	17	7	9	8	0	0	1	0	0	0	1	1	1	1	1	1	0	5	6	1	0	8	3			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr1:79383689G>C	uc001diq.4	-	10	1664	c.1508C>G	c.(1507-1509)gCt>gGt	p.A503G		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	503					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TGCAAAAGCAGCTAAAAAGAA	0.333													13	102					0	0	1	0	0	C	79383689	G	C	79383689	3	2	204	1	0	0	0	0	1	0	0	0	5084	971	34	5	584	5	ELTD1	1	79383689	Missense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08	961359	79383689	169866932	3	8790											
NBPF10	100132406	broad.mit.edu	37	chr1	144814702	144814702	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatataaagtcctggttcacGctcaggaacgagagctgacc	13	8	10	10	2	2	2	2	1	0	1	3	4	3	3	2	2	2	3	2	2	5	3	rs145249789	by1000genomes	TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr1:144814702G>T	uc009wig.1	+	9	1302	c.1108G>T	c.(1108-1110)Gct>Tct	p.A370S	NBPF10_uc010oxo.1_Missense_Mutation_p.A372S|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Missense_Mutation_p.A303S|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Missense_Mutation_p.A101S|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Missense_Mutation_p.A32S	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	372										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CCTGGTTCACGCTCAGGAACG	0.493													5	185					0.0215528	0.0229896	1	1	0	T	144814702	G	T	144814702	3	4	204	1	0	0	0	0	1	0	0	0	10193	1087	38	5		5	NBPF10	1	144814702	Missense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08	65431013	144814702	104435919	4	8791											
CFH	3075	broad.mit.edu	37	chr1	196694339	196694341	+	In_Frame_Del	DEL	CTC	CTC	-																															gttggagaggtgttgaaattCtcctgcaaaccaggatttac																										TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr1:196694339_196694341delCTC	uc001gtj.4	+	11	2025_2027	c.1785_1787delCTC	c.(1783-1788)ttctcc>ttc	p.S596del	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	596	Sushi 10.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGTTGAAATTCTCCTGCAAACCA	0.394													24	99	---	---	---	---						-	196694341	CTC	-	196694339	7	5	204	1	0	1	0	1	0	0	0	0	3283	912	32	0	1849	0	CFH	1	196694339	In_Frame_Del	DEL	CTC	TCGA-HT-7694-01A-11D-2253-08	51879637	196694339	52556282	5	8792											
RNF144A	9781	broad.mit.edu	37	chr2	7164513	7164513	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccacagtgctgctttcaaaAtggaagaagatgacgcgccc	12	7	10	12	2	1	3	1	1	0	2	1	4	1	4	2	1	2	2	2	1	4	1			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:7164513A>G	uc002qys.3	+	6	965	c.523A>G	c.(523-525)Atg>Gtg	p.M175V		NM_014746	NP_055561	P50876	R144A_HUMAN	Homo sapiens ring finger protein 144A (RNF144A), mRNA.	175						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)		TGCTTTCAAAATGGAAGAAGA	0.567													20	65					0	0	1	0	0	G	7164513	A	G	7164513	3	3	204	1	0	0	0	0	1	0	0	0	13445	101	4	3	541	3	RNF144A	2	7164513	Missense_Mutation	SNP	A	TCGA-HT-7694-01A-11D-2253-08		7164513	236034860	6	8793											
NBAS	51594	broad.mit.edu	37	chr2	15523366	15523366	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcatcagaatctagacaTgtgtatacattctgctgcat	12	12	8	9	0	3	2	1	0	2	2	3	2	3	2	0	1	3	4	0	1	4	4			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:15523366T>C	uc002rcc.1	-	28	3359	c.3333A>G	c.(3331-3333)acA>acG	p.T1111T	NBAS_uc010exl.1_Silent_p.T183T|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	1111										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AATCTAGACATGTGTATACAT	0.348													30	90					0	0	1	0	0	C	15523366	T	C	15523366	2	2	204	1	0	0	0	0	0	0	0	1	10186	1451	51	3		3	NBAS	2	15523366	Silent	SNP	T	TCGA-HT-7694-01A-11D-2253-08	8358853	15523366	227676007	7	8794											
APOB	338	broad.mit.edu	37	chr2	21230343	21230343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtaaggtagacgcatttcagGaattgttaaaggaatgttta	14	13	11	3	1	1	1	1	0	0	1	1	3	1	3	0	3	0	5	0	3	7	7			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:21230343G>A	uc002red.3	-	25	9525	c.9397C>T	c.(9397-9399)Cct>Tct	p.P3133S		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3133					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CGCATTTCAGGAATTGTTAAA	0.373													34	119					0	0	1	0	0	A	21230343	G	A	21230343	3	1	204	1	0	0	0	0	1	0	0	0	785	1174	41	3	4310	3	APOB	2	21230343	Missense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08	5706977	21230343	221969030	8	8795											
PTCD3	55037	broad.mit.edu	37	chr2	86355071	86355074	+	Frame_Shift_Del	DEL	GCTT	GCTT	-																															ctggtaatttgagaaccctcGcttgcaacatatcaccatat																										TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:86355071_86355074delGCTT	uc002sqw.2	+	13	1170_1173	c.1104_1107delGCTT	c.(1102-1107)tcgcttfs	p.S368fs	PTCD3_uc002sqx.1_5'UTR	NM_017952	NP_060422	Q96EY7	PTCD3_HUMAN	Homo sapiens Pentatricopeptide repeat domain 3 (PTCD3), nuclear gene encoding mitochondrial protein, mRNA.	368						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						GAGAACCCTCGCTTGCAACATATC	0.333													23	189	---	---	---	---						-	86355074	GCTT	-	86355071	7	5	204	1	0	1	0	1	0	0	0	0	12729	1074	38	0	1158	0	PTCD3	2	86355071	Frame_Shift_Del	DEL	GCTT	TCGA-HT-7694-01A-11D-2253-08	65124728	86355071	156844302	9	8796											
IL1RL2	8808	broad.mit.edu	37	chr2	102808543	102808543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatgtcatctgcacttccCgaagagttgtgttttgggtc	7	14	10	10	1	2	1	1	0	1	1	4	2	3	1	1	1	1	3	1	1	1	4			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:102808543C>T	uc002tbs.3	+	3	578	c.452C>T	c.(451-453)cCg>cTg	p.P151L	IL1RL2_uc002tbt.3_Intron	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	151	Ig-like C2-type 2.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	p.P151Q(2)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						CTGCACTTCCCGAAGAGTTGT	0.328													3	78					0	0	1	0	0	T	102808543	C	T	102808543	3	4	204	1	0	0	0	0	1	0	0	0	7664	652	23	2	462	2	IL1RL2	2	102808543	Missense_Mutation	SNP	C	TCGA-HT-7694-01A-11D-2253-08	16453472	102808543	140390830	10	8797											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								27	88					0	0	1	0	0	T	209113112	C	T	209113112	3	4	204	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7694-01A-11D-2253-08	106304569	209113112	34086261	11	8798											
TRIP12	9320	broad.mit.edu	37	chr2	230723871	230723871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagccagcttggtaggtttcGcagatctctcttctgcacca	8	12	9	12	1	3	1	0	0	3	1	5	1	3	1	2	2	3	5	2	2	2	4			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:230723871G>A	uc002vpx.1	-	3	753	c.644C>T	c.(643-645)gCg>gTg	p.A215V	TRIP12_uc021vxw.1_Missense_Mutation_p.A173V|TRIP12_uc002vpy.1_Intron|TRIP12_uc002vpw.1_Missense_Mutation_p.A173V|TRIP12_uc010zlz.1_Non-coding_Transcript|TRIP12_uc010fxh.1_Missense_Mutation_p.A173V	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	173					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)		GGTAGGTTTCGCAGATCTCTC	0.507													17	45					0	0	1	0	0	A	230723871	G	A	230723871	3	1	204	1	0	0	0	0	1	0	0	0	16553	1087	38	1	5616	1	TRIP12	2	230723871	Missense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08	21610759	230723871	12475502	12	8799											
RAF1	5894	broad.mit.edu	37	chr3	12653552	12653552	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcaagctcattccatttcGcacattgacctacaaacaaa	15	10	4	12	1	1	1	1	1	0	0	3	1	2	1	2	0	4	3	2	0	4	4			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:12653552G>A	uc003bxf.4	-	2	632	c.217C>T	c.(217-219)Cga>Tga	p.R73*	RAF1_uc011aut.2_5'Flank|RAF1_uc011auu.2_Intron	NM_002880	NP_002871	P04049	RAF1_HUMAN	Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA.	73	RBD.				Ras protein signal transduction|activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	ATTCCATTTCGCACATTGACC	0.498			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				5	109					0	0	1	0	0	A	12653552	G	A	12653552	4	1	204	1	0	0	0	0	0	1	0	0	13002	1095	38	1	1789	1	RAF1	3	12653552	Nonsense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08		12653552	185368878	13	8800											
FBLN2	2199	broad.mit.edu	37	chr3	13679124	13679124	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactcgccagcgcgcatcaCgcactaccagctcaacttcc	10	6	7	18	4	2	0	2	0	0	0	4	1	3	0	3	0	5	3	3	0	3	2			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:13679124C>T	uc011avc.2	+	17	3783	c.3401C>T	c.(3400-3402)aCg>aTg	p.T1134M	FBLN2_uc011auz.2_Missense_Mutation_p.T1113M|FBLN2_uc011avb.2_Missense_Mutation_p.T1087M|FBLN2_uc011ava.2_Missense_Mutation_p.T1134M	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	1087	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GCGCGCATCACGCACTACCAG	0.657													7	81					0	0	1	0	0	T	13679124	C	T	13679124	3	4	204	1	0	0	0	0	1	0	0	0	5699	536	19	1	2157	1	FBLN2	3	13679124	Missense_Mutation	SNP	C	TCGA-HT-7694-01A-11D-2253-08	1025572	13679124	184343306	14	8801											
C3orf35	339883	broad.mit.edu	37	chr3	37458938	37458938	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagatgggcctgcagggcAgtgctcagcatttcaacatc	10	8	12	11	0	2	1	2	0	0	1	3	1	2	1	1	2	5	5	1	2	1	1			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:37458938A>G	uc003cha.4	+	4	845	c.181A>G	c.(181-183)Agt>Ggt	p.S61G	C3orf35_uc003chb.3_Missense_Mutation_p.S61G|C3orf35_uc021wvg.1_Missense_Mutation_p.S61G	NM_178339	NP_848029	Q8IVJ8	APRG1_HUMAN	Homo sapiens chromosome 3 open reading frame 35 (C3orf35), transcript variant B, mRNA.	61						integral to membrane		p.G60C(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						CCTGCAGGGCAGTGCTCAGCA	0.463													26	77					0	0	1	0	0	G	37458938	A	G	37458938	3	3	204	1	0	0	0	0	1	0	0	0	2225	188	7	4	183	4	C3orf35	3	37458938	Missense_Mutation	SNP	A	TCGA-HT-7694-01A-11D-2253-08	23779814	37458938	160563492	15	8802											
RFT1	91869	broad.mit.edu	37	chr3	53126463	53126463	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtgcaggccagccaggggCctgtgggggctccttcggta	5	7	18	11	1	0	0	0	0	0	0	2	0	1	0	4	7	2	3	4	7	1	2			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:53126463C>T	uc003dgj.3	-	11	1434	c.1380G>A	c.(1378-1380)agG>agA	p.R460R		NM_052859	NP_443091	Q96AA3	RFT1_HUMAN	Homo sapiens RFT1 homolog (S. cerevisiae) (RFT1), mRNA.	460					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		CAGCCAGGGGCCTGTGGGGGC	0.592													6	10					0	0	1	0	0	T	53126463	C	T	53126463	2	4	204	1	0	0	0	0	0	0	0	1	13257	738	26	3		3	RFT1	3	53126463	Silent	SNP	C	TCGA-HT-7694-01A-11D-2253-08	15667525	53126463	144895967	16	8803											
TMEM14E	645843	broad.mit.edu	37	chr3	152058574	152058574	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgaagaagaatccagcAgaaggggactggacagaacc	16	4	12	9	0	1	5	1	1	0	4	2	7	2	7	2	3	2	1	2	3	5	0			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:152058574A>G	uc010hvo.3	-	0	206	c.120T>C	c.(118-120)tcT>tcC	p.S40S	MBNL1_uc003ezh.3_Intron|MBNL1_uc003ezi.3_Intron|MBNL1_uc003ezj.3_Intron|MBNL1_uc003ezm.3_Intron|MBNL1_uc003ezl.3_Intron|MBNL1_uc003ezp.3_Intron|MBNL1_uc003ezn.3_Intron|MBNL1_uc003ezo.3_Intron	NM_001123228	NP_001116700	Q6UXP3	TM14E_HUMAN	Homo sapiens transmembrane protein 14E (TMEM14E), mRNA.	40						integral to membrane				lung(1)	1						AGAATCCAGCAGAAGGGGACT	0.488													21	79					0	0	1	0	0	G	152058574	A	G	152058574	2	3	204	1	0	0	0	0	0	0	0	1	16063	175	7	4		4	TMEM14E	3	152058574	Silent	SNP	A	TCGA-HT-7694-01A-11D-2253-08	98932111	152058574	45963856	17	8804											
ACTL6A	86	broad.mit.edu	37	chr3	179301185	179301186	+	Frame_Shift_Del	DEL	AC	AC	-																															gcaggaggaaacacactaatAcagagttttactgacaggtt																										TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:179301185_179301186delAC	uc003fjw.3	+	11	1244_1245	c.1071_1072delAC	c.(1069-1074)atacagfs	p.I357fs	ACTL6A_uc003fjx.3_Frame_Shift_Del_p.I315fs|ACTL6A_uc003fjy.3_Frame_Shift_Del_p.I315fs	NM_004301	NP_829888	O96019	ACL6A_HUMAN	Homo sapiens actin-like 6A (ACTL6A), transcript variant 1, mRNA.	357					DNA recombination|DNA repair|chromatin remodeling|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|NuA4 histone acetyltransferase complex|SWI/SNF complex|npBAF complex|plasma membrane	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			ACACACTAATACAGAGTTTTAC	0.347													16	298	---	---	---	---						-	179301186	AC	-	179301185	7	5	204	1	0	1	0	1	0	0	0	0	198	381	14	0	1117	0	ACTL6A	3	179301185	Frame_Shift_Del	DEL	AC	TCGA-HT-7694-01A-11D-2253-08	27242611	179301185	18721245	18	8805											
GNRHR	2798	broad.mit.edu	37	chr4	68606313	68606313	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaacatttcaggatcaaacCaataccaaattcctaggaca	17	10	4	10	0	2	0	2	0	0	0	3	2	3	2	3	2	3	0	3	2	6	5			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr4:68606313C>T	uc003hdn.3	-	2	2623	c.872G>A	c.(871-873)tGg>tAg	p.W291*	LOC550112_uc003hdl.4_Intron|GNRHR_uc003hdm.3_Silent_p.L248L|BC045560_uc003hdo.1_5'Flank	NM_000406	NP_000397	P30968	GNRHR_HUMAN	Homo sapiens gonadotropin-releasing hormone receptor (GNRHR), transcript variant 1, mRNA.	291					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	AGGATCAAACCAATACCAAAT	0.403													17	279					0	0	1	0	0	T	68606313	C	T	68606313	4	4	204	1	0	0	0	0	0	1	0	0	6549	595	21	3	118	3	GNRHR	4	68606313	Nonsense_Mutation	SNP	C	TCGA-HT-7694-01A-11D-2253-08		68606313	122547963	19	8806											
ANKRD17	26057	broad.mit.edu	37	chr4	73963819	73963820	+	Frame_Shift_Del	DEL	TC	TC	-																															gccttgccagaaacagatttTctctcttcctttggaaatgt																										TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr4:73963819_73963820delTC	uc003hgp.3	-	25	5108_5109	c.4991_4992delGA	c.(4990-4992)agafs	p.R1664fs	ANKRD17_uc003hgo.3_Frame_Shift_Del_p.R1551fs|ANKRD17_uc003hgq.3_Frame_Shift_Del_p.R1413fs|ANKRD17_uc003hgr.3_Frame_Shift_Del_p.R1663fs	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	1664	Ser-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAACAGATTTTCTCTCTTCCTT	0.361													34	183	---	---	---	---						-	73963820	TC	-	73963819	7	5	204	1	0	1	0	1	0	0	0	0	646	1780	62	0	2855	0	ANKRD17	4	73963819	Frame_Shift_Del	DEL	TC	TCGA-HT-7694-01A-11D-2253-08	5357506	73963819	117190457	20	8807											
KLKB1	3818	broad.mit.edu	37	chr4	187173195	187173195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaacaaaaacaagcacacGcattgttggaggaacaaact	19	5	7	10	1	0	0	0	0	0	0	0	2	0	2	0	2	5	3	0	2	6	2			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr4:187173195G>A	uc003iyy.3	+	10	1240	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	KLKB1_uc011clc.2_Missense_Mutation_p.R188H|KLKB1_uc011cld.2_Missense_Mutation_p.R352H	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	390					Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	p.R390H(3)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		ACAAGCACACGCATTGTTGGA	0.502													5	131					0	0	1	0	0	A	187173195	G	A	187173195	3	1	204	1	0	0	0	0	1	0	0	0	8412	1087	38	1	1207	1	KLKB1	4	187173195	Missense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08	113209376	187173195	3981081	21	8808											
PIK3R1	5295	broad.mit.edu	37	chr5	67589138	67589138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attgtttttacaggaaagggGgaaataacaaattaatcaaa	19	11	8	3	0	1	0	1	0	0	0	1	2	1	2	0	3	2	1	0	3	7	6			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr5:67589138G>A	uc003jva.3	+	9	1706	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	PIK3R1_uc003jvc.3_Missense_Mutation_p.G76R|PIK3R1_uc003jvd.3_Missense_Mutation_p.G106R|PIK3R1_uc003jve.3_Missense_Mutation_p.G55R|PIK3R1_uc021xzn.1_Missense_Mutation_p.G13R|PIK3R1_uc011crb.2_Missense_Mutation_p.G46R	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	376	SH2 1.				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.G376R(11)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAGGAAAGGGGGAAATAACAA	0.308			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			9	60					0	0	1	0	0	A	67589138	G	A	67589138	3	1	204	1	0	0	0	0	1	0	0	0	11918	1233	43	3	1290	3	PIK3R1	5	67589138	Missense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08		67589138	113326122	22	8809											
TREML2	79865	broad.mit.edu	37	chr6	41165998	41165998	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcgtcctgcagcaagtagcgGggccctttcacccagactcg	7	8	11	15	3	1	1	1	0	0	1	4	1	2	1	3	2	3	3	3	2	2	2			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr6:41165998G>A	uc010jxm.1	-	1	404	c.225C>T	c.(223-225)ccC>ccT	p.P75P		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	75	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	p.G74V(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCAAGTAGCGGGGCCCTTTCA	0.572													11	177					0	0	1	0	0	A	41165998	G	A	41165998	2	1	204	1	0	0	0	0	0	0	0	1	16470	1219	43	3		3	TREML2	6	41165998	Silent	SNP	G	TCGA-HT-7694-01A-11D-2253-08		41165998	129949069	23	8810											
FILIP1	27145	broad.mit.edu	37	chr6	76023092	76023092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccgtatgaatacagctggcGtttcttcctctgctgcttca	6	15	8	12	2	3	1	1	1	2	0	5	1	5	1	2	1	4	5	2	1	3	5			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr6:76023092G>A	uc010kbe.3	-	5	2995	c.2465C>T	c.(2464-2466)aCg>aTg	p.T822M	FILIP1_uc003phy.1_Missense_Mutation_p.T819M|FILIP1_uc003phz.3_Missense_Mutation_p.T720M|FILIP1_uc003pia.3_Missense_Mutation_p.T819M|FILIP1_uc003pib.1_Missense_Mutation_p.T571M	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	819										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TACAGCTGGCGTTTCTTCCTC	0.463													9	288					0	0	1	0	0	A	76023092	G	A	76023092	3	1	204	1	0	0	0	0	1	0	0	0	5894	1145	40	1	1193	1	FILIP1	6	76023092	Missense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08	34857094	76023092	95091975	24	8811											
SLC35A1	10559	broad.mit.edu	37	chr6	88187186	88187186	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggacatcagacaaagaactCtacttttcaaccacagccgt	15	8	6	12	1	3	2	2	0	1	2	3	3	3	3	2	1	4	0	2	1	4	3			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr6:88187186C>G	uc011dzj.2	+	1	202	c.123C>G	c.(121-123)ctC>ctG	p.L41L	SLC35A1_uc003plx.3_Non-coding_Transcript|SLC35A1_uc010kbw.3_5'UTR|SLC35A1_uc010kby.3_Non-coding_Transcript|SLC35A1_uc003plz.3_Non-coding_Transcript|SLC35A1_uc011dzi.2_5'UTR|SLC35A1_uc010kbx.3_Silent_p.L41L|SLC35A1_uc003ply.3_Non-coding_Transcript|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_006416	NP_006407	P78382	S35A1_HUMAN	Homo sapiens solute carrier family 35 (CMP-sialic acid transporter), member A1 (SLC35A1), transcript variant 1, mRNA.	41					carbohydrate metabolic process|protein modification process	Golgi membrane|integral to plasma membrane	CMP-N-acetylneuraminate transmembrane transporter activity|sugar:hydrogen symporter activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		ACAAAGAACTCTACTTTTCAA	0.358													6	114					0	0	1	0	0	G	88187186	C	G	88187186	2	3	204	1	0	0	0	0	0	0	0	1	14570	900	32	5		5	SLC35A1	6	88187186	Silent	SNP	C	TCGA-HT-7694-01A-11D-2253-08	12164094	88187186	82927881	25	8812											
COQ3	51805	broad.mit.edu	37	chr6	99817516	99817516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcacagctggattggtgcagGcattagcttggagctcttct	7	12	13	9	0	2	0	0	0	2	0	2	2	2	2	0	4	4	6	0	4	1	4			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr6:99817516G>A	uc003ppk.3	-	6	1097	c.1070C>T	c.(1069-1071)gCc>gTc	p.A357V		NM_017421	NP_059117	Q9NZJ6	COQ3_HUMAN	Homo sapiens coenzyme Q3 homolog, methyltransferase (S. cerevisiae) (COQ3), mRNA.	357					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		ATTGGTGCAGGCATTAGCTTG	0.403													42	182					0	0	1	0	0	A	99817516	G	A	99817516	3	1	204	1	0	0	0	0	1	0	0	0	3746	1203	42	3	43	3	COQ3	6	99817516	Missense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08	11630330	99817516	71297551	26	8813											
HDAC2	3066	broad.mit.edu	37	chr6	114270202	114270203	+	Frame_Shift_Del	DEL	TG	TG	-																															ataatgagtctgcaccacacTgtaataccacagcactaggt																										TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr6:114270202_114270203delTG	uc003pwd.2	-	7	1068_1069	c.781_782delCA	c.(781-783)cagfs	p.Q261fs	HDAC2_uc003pwc.2_Frame_Shift_Del_p.Q231fs|HDAC2_uc003pwe.2_Frame_Shift_Del_p.Q231fs	NM_001527	NP_001518	Q92769	HDAC2_HUMAN	Homo sapiens histone deacetylase 2 (HDAC2), transcript variant 1, mRNA.	261	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	ESC/E(Z) complex|NuRD complex|Sin3 complex|cytoplasm	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|sequence-specific DNA binding|transcription factor binding	p.Q261P(2)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	TGCACCACACTGTAATACCACA	0.371													7	322	---	---	---	---						-	114270203	TG	-	114270202	7	5	204	1	0	1	0	1	0	0	0	0	7007	1580	55	0	712	0	HDAC2	6	114270202	Frame_Shift_Del	DEL	TG	TCGA-HT-7694-01A-11D-2253-08	14452686	114270202	56844865	27	8814											
FUCA2	2519	broad.mit.edu	37	chr6	143823670	143823670	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgctaccagctccccaaCgatcattggtgactactgtg	10	10	9	12	1	1	2	1	1	0	1	2	3	2	2	3	1	5	2	3	1	3	3			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr6:143823670C>T	uc003qjm.3	-	3	1034	c.785G>A	c.(784-786)cGt>cAt	p.R262H	FUCA2_uc003qjn.3_Missense_Mutation_p.R16H	NM_032020	NP_114409	Q9BTY2	FUCO2_HUMAN	Homo sapiens fucosidase, alpha-L- 2, plasma (FUCA2), mRNA.	262					fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		AGCTCCCCAACGATCATTGGT	0.403													16	121					0	0	1	0	0	T	143823670	C	T	143823670	3	4	204	1	0	0	0	0	1	0	0	0	6095	536	19	1	634	1	FUCA2	6	143823670	Missense_Mutation	SNP	C	TCGA-HT-7694-01A-11D-2253-08	29553468	143823670	27291397	28	8815											
NEUROD6	63974	broad.mit.edu	37	chr7	31378576	31378577	+	Frame_Shift_Del	DEL	CG	CG	-																															gccgtgcatcctgttcctctCgcgcgcgttcgcttcctgtc																										TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr7:31378576_31378577delCG	uc003tch.3	-	1	659_660	c.306_307delCG	c.(304-309)cgcgagfs	p.R102fs	NEUROD6_uc022abi.1_Frame_Shift_Del_p.R102fs	NM_022728	NP_073565	Q96NK8	NDF6_HUMAN	Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA.	102					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CTGTTCCTCTCGCGCGCGTTCG	0.47													8	316	---	---	---	---						-	31378577	CG	-	31378576	7	5	204	1	0	1	0	1	0	0	0	0	10351	893	31	0	710	0	NEUROD6	7	31378576	Frame_Shift_Del	DEL	CG	TCGA-HT-7694-01A-11D-2253-08		31378576	127760087	29	8816											
CLIP2	7461	broad.mit.edu	37	chr7	73795186	73795187	+	Frame_Shift_Del	DEL	TG	TG	-																															acgatcaggacgaaggaaacTgtggagggtgagtggccacc																										TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr7:73795186_73795187delTG	uc003uam.3	+	10	2799_2800	c.2472_2473delTG	c.(2470-2475)actgtgfs	p.T824fs	CLIP2_uc003uan.3_Frame_Shift_Del_p.T789fs|CLIP2_uc003uao.3_Frame_Shift_Del_p.T218fs	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	824						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CGAAGGAAACTGTGGAGGGTGA	0.579													63	199	---	---	---	---						-	73795187	TG	-	73795186	7	5	204	1	0	1	0	1	0	0	0	0	3533	1567	55	0	2510	0	CLIP2	7	73795186	Frame_Shift_Del	DEL	TG	TCGA-HT-7694-01A-11D-2253-08	42416610	73795186	85343477	30	8817											
TSC22D4	81628	broad.mit.edu	37	chr7	100064672	100064672	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccgggctggccagggcGcgcagcagcccattctcctg	4	7	14	16	3	1	0	0	0	1	0	3	0	2	0	4	3	3	4	4	3	0	1			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr7:100064672G>T	uc003uva.3	-	4	1853	c.1098C>A	c.(1096-1098)cgC>cgA	p.R366R	C7orf61_uc003uuz.1_5'Flank|TSC22D4_uc011kjv.2_Silent_p.R127R|TSC22D4_uc010lgx.3_Silent_p.R366R	NM_030935	NP_112197	Q9Y3Q8	T22D4_HUMAN	Homo sapiens TSC22 domain family, member 4 (TSC22D4), mRNA.	366					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGCCAGGGCGCGCAGCAGCC	0.697													4	22					0.150653	0.157204	1	1	0	T	100064672	G	T	100064672	2	4	204	1	0	0	0	0	0	0	0	1	16607	1074	38	5		5	TSC22D4	7	100064672	Silent	SNP	G	TCGA-HT-7694-01A-11D-2253-08	26269486	100064672	59073991	31	8818											
MYL10	93408	broad.mit.edu	37	chr7	101267513	101267513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agacgttggagctggcggtgCcttctgctcttttccgagct	4	13	13	11	3	2	1	0	0	2	1	3	3	3	2	2	3	4	4	2	3	0	4			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr7:101267513C>T	uc003uyr.3	-	1	288	c.110G>A	c.(109-111)gGc>gAc	p.G37D		NM_138403	NP_612412	Q9BUA6	MYL10_HUMAN	Homo sapiens myosin, light chain 10, regulatory (MYL10), mRNA.	37						mitochondrion	calcium ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						GCTGGCGGTGCCTTCTGCTCT	0.587													21	64					0	0	1	0	0	T	101267513	C	T	101267513	3	4	204	1	0	0	0	0	1	0	0	0	10044	739	26	3	598	3	MYL10	7	101267513	Missense_Mutation	SNP	C	TCGA-HT-7694-01A-11D-2253-08	1202841	101267513	57871150	32	8819											
OLFML2A	169611	broad.mit.edu	37	chr9	127572530	127572530	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcaggaaggccaggtcgccTacgctttcgacacgcacacg	10	5	12	14	5	0	0	0	0	0	0	2	2	0	1	2	3	2	3	2	3	2	2			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr9:127572530T>C	uc004bov.3	+	7	1911	c.1798T>C	c.(1798-1800)Tac>Cac	p.Y600H	OLFML2A_uc004bow.3_Missense_Mutation_p.Y386H	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA.	600	Olfactomedin-like.									endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CCAGGTCGCCTACGCTTTCGA	0.637													19	59					0	0	1	0	0	C	127572530	T	C	127572530	3	2	204	1	0	0	0	0	1	0	0	0	10857	1522	53	4	1828	4	OLFML2A	9	127572530	Missense_Mutation	SNP	T	TCGA-HT-7694-01A-11D-2253-08		127572530	13640901	33	8820											
FCN1	2219	broad.mit.edu	37	chr9	137804960	137804960	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgctcaggaaatacccccGgtctagcaggtccttgcagt	8	8	11	14	2	2	0	1	0	1	0	3	1	3	1	4	3	3	3	4	3	3	3			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr9:137804960G>T	uc004cfi.3	-	5	459	c.370C>A	c.(370-372)Cgg>Agg	p.R124R		NM_002003	NP_001994	O00602	FCN1_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing) 1 (FCN1), mRNA.	124	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		AAATACCCCCGGTCTAGCAGG	0.682													3	44					1	1	1	1	0	T	137804960	G	T	137804960	2	4	204	1	0	0	0	0	0	0	0	1	5791	1115	39	5		5	FCN1	9	137804960	Silent	SNP	G	TCGA-HT-7694-01A-11D-2253-08	10232430	137804960	3408471	34	8821											
VDAC2	7417	broad.mit.edu	37	chr10	76980618	76980618	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagctgtctttggttatgaGggctggcttgctggctacca	5	14	13	9	0	2	1	1	1	1	0	2	1	2	1	1	4	3	6	1	4	2	4			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr10:76980618G>A	uc001jxa.3	+	7	1074	c.519G>A	c.(517-519)gaG>gaA	p.E173E	VDAC2_uc021ptp.1_Silent_p.E158E|VDAC2_uc010qld.2_Silent_p.E119E|VDAC2_uc001jwz.3_Silent_p.E158E|VDAC2_uc010qle.2_Silent_p.E119E	NM_001184783	NP_001171712	P45880	VDAC2_HUMAN	Homo sapiens voltage-dependent anion channel 2 (VDAC2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	158						mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	TTGGTTATGAGGGCTGGCTTG	0.468													12	44					0	0	1	0	0	A	76980618	G	A	76980618	2	1	204	1	0	0	0	0	0	0	0	1	17144	991	35	3		3	VDAC2	10	76980618	Silent	SNP	G	TCGA-HT-7694-01A-11D-2253-08		76980618	58554129	35	8822											
GLUD1	2746	broad.mit.edu	37	chr10	88835744	88835744	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtatagttcttgggattgAtcttaacaccagctttagca	11	14	8	8	0	2	1	0	1	2	0	2	2	2	2	1	1	3	4	1	1	4	8			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr10:88835744A>C	uc001keh.3	-	2	813	c.563T>G	c.(562-564)aTc>aGc	p.I188S	GLUD1_uc001keg.3_Missense_Mutation_p.I21S|GLUD1_uc010qmp.2_Missense_Mutation_p.I55S	NM_005271	NP_005262	P00367	DHE3_HUMAN	Homo sapiens glutamate dehydrogenase 1 (GLUD1), nuclear gene encoding mitochondrial protein, mRNA.	188					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|GTP binding|NAD+ binding|glutamate dehydrogenase|glutamate dehydrogenase activity|identical protein binding|leucine binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	CTTGGGATTGATCTTAACACC	0.353													22	127					0	0	1	0	0	C	88835744	A	C	88835744	3	2	204	1	0	0	0	0	1	0	0	0	6476	333	12	5	1157	5	GLUD1	10	88835744	Missense_Mutation	SNP	A	TCGA-HT-7694-01A-11D-2253-08	11855126	88835744	46699003	36	8823											
ANO3	63982	broad.mit.edu	37	chr11	26663556	26663556	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaaccttcatggactgaTggatgagtacttagaaatgg	13	11	11	6	0	1	4	1	3	0	1	1	6	1	6	1	3	2	1	1	3	4	3			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr11:26663556T>C	uc001mqt.4	+	21	2400	c.2255T>C	c.(2254-2256)aTg>aCg	p.M752T	ANO3_uc010rdr.2_Missense_Mutation_p.M736T|ANO3_uc010rds.2_Missense_Mutation_p.M591T|ANO3_uc010rdt.2_Missense_Mutation_p.M606T	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	752						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CATGGACTGATGGATGAGTAC	0.413													4	105					0	0	1	0	0	C	26663556	T	C	26663556	3	2	204	1	0	0	0	0	1	0	0	0	698	1464	51	3	2341	3	ANO3	11	26663556	Missense_Mutation	SNP	T	TCGA-HT-7694-01A-11D-2253-08		26663556	108342960	37	8824											
OTUB1	55611	broad.mit.edu	37	chr11	63764577	63764579	+	In_Frame_Del	DEL	CCT	CCT	-																															ctctgtcgccgacctgctggCctccttcaatgaccagagca																										TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr11:63764577_63764579delCCT	uc001nyf.1	+	5	1083_1085	c.479_481delCCT	c.(478-483)gcctcc>gcc	p.S161del	OTUB1_uc001nyg.1_In_Frame_Del_p.S204del|OTUB1_uc010rna.1_In_Frame_Del_p.S170del|OTUB1_uc009ypb.1_In_Frame_Del_p.S131del	NM_017670	NP_060140	Q96FW1	OTUB1_HUMAN	Homo sapiens OTU domain, ubiquitin aldehyde binding 1 (OTUB1), transcript variant 1, mRNA.	161	OTU.				protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						GACCTGCTGGCCTCCTTCAATGA	0.591													50	258	---	---	---	---						-	63764579	CCT	-	63764577	7	5	204	1	0	1	0	1	0	0	0	0	11311	739	26	0	501	0	OTUB1	11	63764577	In_Frame_Del	DEL	CCT	TCGA-HT-7694-01A-11D-2253-08	37101021	63764577	71241939	38	8825											
CREBZF	58487	broad.mit.edu	37	chr11	85375242	85375244	+	In_Frame_Del	DEL	CTT	CTT	-																															tccagccccatcacgtactcCttcttcttcagtcgattaag																										TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr11:85375242_85375244delCTT	uc001pas.2	-	0	939_941	c.676_678delAAG	c.(676-678)aagdel	p.K226del	CREBZF_uc010rtd.1_Non-coding_Transcript|CREBZF_uc010rtc.1_Non-coding_Transcript	NM_001039618	NP_001034707	Q9NS37	ZHANG_HUMAN	Homo sapiens CREB/ATF bZIP transcription factor (CREBZF), transcript variant 1, mRNA.	226					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K226delK(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCACGTACTCCTTCTTCTTCAGT	0.665											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	219	---	---	---	---						-	85375244	CTT	-	85375242	7	5	204	1	0	1	0	1	0	0	0	0	3863	680	24	0	390	0	CREBZF	11	85375242	In_Frame_Del	DEL	CTT	TCGA-HT-7694-01A-11D-2253-08	21610665	85375242	49631274	39	8826											
H3F3C	440093	broad.mit.edu	37	chr12	31944718	31944718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctctccccgtatccggCgagccaactggatgtctttg	5	12	9	15	3	3	0	0	0	3	0	6	2	4	1	4	2	2	1	4	2	2	2			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr12:31944718C>T	uc001rkr.3	-	0	458	c.383G>A	c.(382-384)cGc>cAc	p.R128H		NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN	Homo sapiens H3 histone, family 3C (H3F3C), mRNA.	128					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						CCGTATCCGGCGAGCCAACTG	0.443										HNSCC(67;0.2)			27	151					0	0	1	0	0	T	31944718	C	T	31944718	3	4	204	1	0	0	0	0	1	0	0	0	6935	768	27	1	28	1	H3F3C	12	31944718	Missense_Mutation	SNP	C	TCGA-HT-7694-01A-11D-2253-08		31944718	101907177	40	8827											
HAUS4	54930	broad.mit.edu	37	chr14	23416936	23416936	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaaagtgaggcagcggagaAgcacctgagcccaagatgga	14	3	15	9	1	0	4	0	2	0	2	0	6	0	5	2	3	3	3	2	3	3	0			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr14:23416936A>C	uc001whw.3	-	7	962	c.713T>G	c.(712-714)cTt>cGt	p.L238R	HAUS4_uc001who.3_Non-coding_Transcript|HAUS4_uc001wht.3_Missense_Mutation_p.L238R|HAUS4_uc001whu.3_Missense_Mutation_p.L193R|HAUS4_uc001whv.3_Missense_Mutation_p.L114R|HAUS4_uc001whq.3_Missense_Mutation_p.L112R	NM_001166269	NP_060285	Q9H6D7	HAUS4_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 4 (HAUS4), transcript variant 1, mRNA.	238					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|spindle				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						GCAGCGGAGAAGCACCTGAGC	0.507													27	85					0	0	1	0	0	C	23416936	A	C	23416936	3	2	204	1	0	0	0	0	1	0	0	0	6968	72	3	5	390	5	HAUS4	14	23416936	Missense_Mutation	SNP	A	TCGA-HT-7694-01A-11D-2253-08		23416936	83932604	41	8828											
SIN3A	25942	broad.mit.edu	37	chr15	75682071	75682090	+	Frame_Shift_Del	DEL	ATCTTCATACTGTGATGAGT	ATCTTCATACTGTGATGAGT	-																															gtgaacatctctctcagtgaAtcttcatactgtgatgagtc																										TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr15:75682071_75682090delATCTTCATACTGTGATGAGT	uc002bai.3	-	15	3183_3202	c.2924_2943delACTCATCACAGTATGAAGAT	c.(2923-2943)gactcatcacagtatgaagatfs	p.D975fs	SIN3A_uc002baj.3_Frame_Shift_Del_p.D975fs|SIN3A_uc010uml.2_Frame_Shift_Del_p.D975fs	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	975					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CTCTCAGTGAATCTTCATACTGTGATGAGTCTATGTTGCC	0.491													10	188	---	---	---	---						-	75682090	ATCTTCATACTGTGATGAGT	-	75682071	7	5	204	1	0	1	0	1	0	0	0	0	14325	98	4	0	902	0	SIN3A	15	75682071	Frame_Shift_Del	DEL	ATCTTCATACTGTGATGAGT	TCGA-HT-7694-01A-11D-2253-08		75682071	26849321	42	8829											
KIAA1024	23251	broad.mit.edu	37	chr15	79748620	79748620	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttcgacctgtcgcagcttgCcaaactgagaagtgtgctct	8	11	11	11	2	1	1	0	1	1	1	3	3	1	1	2	0	4	4	2	0	2	2			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr15:79748620C>A	uc002bew.1	+	1	206	c.131C>A	c.(130-132)gCc>gAc	p.A44D	KIAA1024_uc010unk.1_Missense_Mutation_p.A44D	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	44						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TCGCAGCTTGCCAAACTGAGA	0.468													34	104					4.32679e-17	4.82991e-17	1	1	0	A	79748620	C	A	79748620	3	1	204	1	0	0	0	0	1	0	0	0	8205	739	26	5	133	5	KIAA1024	15	79748620	Missense_Mutation	SNP	C	TCGA-HT-7694-01A-11D-2253-08	4066549	79748620	22782772	43	8830											
NPIP	9284	broad.mit.edu	37	chr16	15026513	15026513	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacggcgacagagccttccaCcgcaacagtctggacatctt	10	7	10	14	3	2	1	0	0	2	1	3	4	3	2	3	2	2	1	3	2	1	2			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr16:15026513C>T	uc002dcx.4	+	6		c.1161C>T						Q9UND3	NPIP_HUMAN	Homo sapiens nuclear pore complex interacting protein (NPIP), mRNA.						mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore											GAGCCTTCCACCGCAACAGTC	0.632													3	57					0	0	1	0	0	T	15026513	C	T	15026513	1	4	204	0	1	0	0	0	0	0	0	0	10584	522	18	3		3	NPIP	16	15026513	RNA	SNP	C	TCGA-HT-7694-01A-11D-2253-08		15026513	75328240	44	8831											
PDP2	57546	broad.mit.edu	37	chr16	66919405	66919405	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgaggccccaggataagttCcttgtgctggcctcagatgg	7	10	13	11	0	1	2	1	1	0	1	2	3	2	3	4	4	1	2	4	4	1	3			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr16:66919405C>T	uc021tjw.1	+	0	1218	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	PDP2_uc002eqk.2_Silent_p.F406F	NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 2 (PDP2), mRNA.	406					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		AGGATAAGTTCCTTGTGCTGG	0.567													38	94					0	0	1	0	0	T	66919405	C	T	66919405	2	4	204	1	0	0	0	0	0	0	0	1	11686	854	30	3		3	PDP2	16	66919405	Silent	SNP	C	TCGA-HT-7694-01A-11D-2253-08	51892892	66919405	23435348	45	8832											
NCOR1	9611	broad.mit.edu	37	chr17	15978996	15978996	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctctgttggtatgccagtCtggggcagagccggggtgcc	4	9	17	11	1	2	1	0	0	2	1	2	1	2	1	4	5	3	3	4	5	1	2			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr17:15978996C>T	uc002gpo.3	-	26	3791	c.3522G>A	c.(3520-3522)caG>caA	p.Q1174Q	NCOR1_uc002gpn.3_Silent_p.Q1190Q|NCOR1_uc002gpp.1_Silent_p.Q1081Q|NCOR1_uc010vwb.2_Intron|NCOR1_uc010coy.3_Silent_p.Q82Q|NCOR1_uc010vwc.2_5'UTR	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	1174	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTATGCCAGTCTGGGGCAGAG	0.493													5	114					0	0	1	0	0	T	15978996	C	T	15978996	2	4	204	1	0	0	0	0	0	0	0	1	10235	912	32	3		3	NCOR1	17	15978996	Silent	SNP	C	TCGA-HT-7694-01A-11D-2253-08		15978996	65216214	46	8833											
RBBP8	5932	broad.mit.edu	37	chr18	20602227	20602227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttccactcagacttgtatgGaaagaggtgagagtatagat	13	11	11	6	0	1	4	1	1	0	4	2	6	2	5	1	2	0	2	1	2	4	5			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr18:20602227G>A	uc002kua.3	+	17	2728	c.2605G>A	c.(2605-2607)Gaa>Aaa	p.E869K	RBBP8_uc002ktw.3_Missense_Mutation_p.E864K|RBBP8_uc002kty.3_Missense_Mutation_p.E864K|RBBP8_uc002ktz.3_Nonsense_Mutation_p.W831*|RBBP8_uc010xap.2_Missense_Mutation_p.E202K	NM_203291	NP_976036	Q99708	COM1_HUMAN	Homo sapiens retinoblastoma binding protein 8 (RBBP8), transcript variant 2, mRNA.	864					DNA double-strand break processing involved in repair via single-strand annealing|cell cycle checkpoint|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			GACTTGTATGGAAAGAGGTGA	0.418								Homologous recombination					22	96					0	0	1	0	0	A	20602227	G	A	20602227	3	1	204	1	0	0	0	0	1	0	0	0	13105	1184	41	3	2656	3	RBBP8	18	20602227	Missense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08		20602227	57475021	47	8834											
LTBP4	8425	broad.mit.edu	37	chr19	41125346	41125346	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtctgccccaacagcccGgaagagtttgaccccatgac	9	8	10	14	1	1	3	0	2	1	1	1	4	1	4	5	1	3	1	5	1	2	1			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr19:41125346G>T	uc002ooh.1	+	25	3363	c.3363G>T	c.(3361-3363)ccG>ccT	p.P1121P	LTBP4_uc002oog.1_Silent_p.P1084P|LTBP4_uc002ooi.1_Silent_p.P1054P|LTBP4_uc002ooj.1_5'UTR|LTBP4_uc002ook.1_Silent_p.P256P|LTBP4_uc002ool.1_Silent_p.P134P|LTBP4_uc002oom.1_Non-coding_Transcript|LTBP4_uc010xvp.1_5'UTR	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA.	1122	Pro-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCAACAGCCCGGAAGAGTTTG	0.532													3	67					1	1	1	1	0	T	41125346	G	T	41125346	2	4	204	1	0	0	0	0	0	0	0	1	9076	1103	39	5		5	LTBP4	19	41125346	Silent	SNP	G	TCGA-HT-7694-01A-11D-2253-08		41125346	18003637	48	8835											
CIC	23152	broad.mit.edu	37	chr19	42793443	42793444	+	Frame_Shift_Ins	INS	-	-	C																															ccttggcggccactgggcggINScccccgctgctgcccacccg																										TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr19:42793443_42793444insC	uc002otf.1	+	7	1285_1286	c.1245_1246insC	c.(1243-1248)cggcccfs	p.R415fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCACTGGGCGGCCCCCGCTGCT	0.644			"Mis, F, S"		oligodendroglioma								14	45	---	---	---	---						C	42793444	-	C	42793443	7	5	204	1	0	1	1	0	0	0	0	0	3424	1190	42	0	1275	0	CIC	19	42793443	Frame_Shift_Ins	INS	-	TCGA-HT-7694-01A-11D-2253-08	1668097	42793443	16335540	49	8836											
GIPR	2696	broad.mit.edu	37	chr19	46180213	46180213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcccctccctaggccctcGctgcctgccgcacggcccag	3	6	11	21	3	0	0	0	0	0	0	2	0	1	0	7	3	2	2	7	3	1	1			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr19:46180213G>A	uc002pcu.1	+	7	739	c.640G>A	c.(640-642)Gct>Act	p.A214T	GIPR_uc002pct.1_Missense_Mutation_p.A214T|GIPR_uc010xxp.1_Missense_Mutation_p.A178T|GIPR_uc010xxq.1_Non-coding_Transcript|MIR642B_uc021uvy.1_5'Flank	NM_000164	NP_000155	P48546	GIPR_HUMAN	Homo sapiens gastric inhibitory polypeptide receptor (GIPR), mRNA.	214					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		CTAGGCCCTCGCTGCCTGCCG	0.662													3	62					0	0	1	0	0	A	46180213	G	A	46180213	3	1	204	1	0	0	0	0	1	0	0	0	6395	1087	38	1	666	1	GIPR	19	46180213	Missense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08	3386770	46180213	12948770	50	8837											
PANK2	80025	broad.mit.edu	37	chr20	3891325	3891328	+	Frame_Shift_Del	DEL	TTAC	TTAC	-																															aatggacggtcacagtgctaTtactttgaaaaccctgctga																										TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr20:3891325_3891328delTTAC	uc002wkc.3	+	2	1089_1092	c.1083_1086delTTAC	c.(1081-1086)tattacfs	p.Y361fs	PANK2_uc002wkb.3_Frame_Shift_Del_p.Y70fs|PANK2_uc010gbd.1_Non-coding_Transcript|PANK2_uc002wkd.3_Non-coding_Transcript|PANK2_uc002wke.3_Frame_Shift_Del_p.Y70fs|PANK2_uc002wkf.3_5'UTR	NM_153638	NP_705902	Q9BZ23	PANK2_HUMAN	Homo sapiens pantothenate kinase 2 (PANK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	361					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CACAGTGCTATTACTTTGAAAACC	0.402													11	155	---	---	---	---						-	3891328	TTAC	-	3891325	7	5	204	1	0	1	0	1	0	0	0	0	11417	1500	52	0	1093	0	PANK2	20	3891325	Frame_Shift_Del	DEL	TTAC	TCGA-HT-7694-01A-11D-2253-08		3891325	59134195	51	8838											
MAST2	23139	broad.mit.edu	37	chr1	46497240	46497240	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctcagccacagccctctCactcctcattccttcgggtg	5	10	7	19	2	3	0	3	0	1	0	7	0	5	0	5	1	2	0	5	1	0	2			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr1:46497240C>A	uc001cov.3	+	23	3453	c.3170C>A	c.(3169-3171)tCa>tAa	p.S1057*	MAST2_uc001cow.3_Nonsense_Mutation_p.S1057*|MAST2_uc001cpa.3_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	1057					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					ACAGCCCTCTCACTCCTCATT	0.607													3	42					0.00909568	0.00909568	1	1	0	A	46497240	C	A	46497240	4	1	205	1	0	0	0	0	0	1	0	0	9325	838	29	5	3264	5	MAST2	1	46497240	Nonsense_Mutation	SNP	C	TCGA-HT-7695-01A-11D-2253-08		46497240	202753381	1	8839											
GBP5	115362	broad.mit.edu	37	chr1	89730624	89730624	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgctgatggcattgacAtaggtcagcaccaggttctt	9	11	10	11	0	2	2	1	2	1	0	2	2	2	2	2	3	2	4	2	3	1	4			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr1:89730624A>G	uc001dnc.3	-	7	1431	c.894T>C	c.(892-894)taT>taC	p.Y298Y	GBP5_uc001dnd.3_Silent_p.Y298Y|GBP5_uc001dne.1_Silent_p.Y298Y	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 1, mRNA.	298						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TGGCATTGACATAGGTCAGCA	0.448													31	18					0	0	1	0	0	G	89730624	A	G	89730624	2	3	205	1	0	0	0	0	0	0	0	1	6277	224	8	3		3	GBP5	1	89730624	Silent	SNP	A	TCGA-HT-7695-01A-11D-2253-08	43233384	89730624	159519997	2	8840											
ASXL2	55252	broad.mit.edu	37	chr2	25972673	25972673	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgattctcagtgacacgtggCctcttctcccagctcacagg	7	10	9	15	2	4	1	2	1	3	0	6	2	4	1	2	2	1	1	2	2	0	2			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr2:25972673C>T	uc002rgs.2	-	10	1973	c.1752G>A	c.(1750-1752)agG>agA	p.R584R	ASXL2_uc002rgt.1_Silent_p.R324R	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACACGTGGCCTCTTCTCCC	0.532													9	28					0	0	1	0	0	T	25972673	C	T	25972673	2	4	205	1	0	0	0	0	0	0	0	1	1067	738	26	3		3	ASXL2	2	25972673	Silent	SNP	C	TCGA-HT-7695-01A-11D-2253-08		25972673	217226700	3	8841											
OTOF	9381	broad.mit.edu	37	chr2	26688556	26688556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacgtggagtaggtctgggCgatgccgcaggtggcgcggt	6	8	19	8	5	1	0	0	0	1	0	1	2	1	1	1	6	2	2	1	6	2	2			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr2:26688556C>T	uc002rhk.3	-	37	4910	c.4783G>A	c.(4783-4785)Gcc>Acc	p.A1595T	OTOF_uc010yla.2_Missense_Mutation_p.A325T|OTOF_uc002rhh.3_Missense_Mutation_p.A828T|OTOF_uc002rhi.3_Missense_Mutation_p.A905T|OTOF_uc002rhj.3_Missense_Mutation_p.A828T	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	1595					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGGTCTGGGCGATGCCGCAG	0.582													5	131					0	0	1	0	0	T	26688556	C	T	26688556	3	4	205	1	0	0	0	0	1	0	0	0	11303	768	27	1	1431	1	OTOF	2	26688556	Missense_Mutation	SNP	C	TCGA-HT-7695-01A-11D-2253-08	715883	26688556	216510817	4	8842											
HEATR5B	54497	broad.mit.edu	37	chr2	37268386	37268386	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataacgatgcaaacaaccaaGagccaatgaatgaccagtcc	18	5	7	11	1	0	3	0	2	0	1	1	4	1	3	4	0	5	1	4	0	6	1			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr2:37268386G>C	uc002rpp.1	-	18	2842	c.2746C>G	c.(2746-2748)Ctt>Gtt	p.L916V		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	916							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AAACAACCAAGAGCCAATGAA	0.418													32	56					0	0	1	0	0	C	37268386	G	C	37268386	3	2	205	1	0	0	0	0	1	0	0	0	7032	942	33	5	3541	5	HEATR5B	2	37268386	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08	10579830	37268386	205930987	5	8843											
AFF3	3899	broad.mit.edu	37	chr2	100175384	100175384	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atactttacagcgtggtcccTtttgagtcgaaacatccgcc	9	12	8	12	3	0	1	0	1	0	0	3	2	2	1	3	1	4	0	3	1	3	5			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr2:100175384T>C	uc002taf.3	-	20	3457	c.3313A>G	c.(3313-3315)Agg>Ggg	p.R1105G	AFF3_uc002tag.3_Missense_Mutation_p.R1080G	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	1080					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GCGTGGTCCCTTTTGAGTCGA	0.483											OREG0014830	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	92					0	0	1	0	0	C	100175384	T	C	100175384	3	2	205	1	0	0	0	0	1	0	0	0	358	1608	56	4	458	4	AFF3	2	100175384	Missense_Mutation	SNP	T	TCGA-HT-7695-01A-11D-2253-08	62906998	100175384	143023989	6	8844											
ARHGEF4	50649	broad.mit.edu	37	chr2	131797874	131797874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcgcgcagacatgttcaGcgaggagcagctgcgtacca	11	5	13	12	4	1	1	1	0	0	1	1	3	1	2	1	1	6	5	1	1	2	2	rs117266463	by1000genomes	TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr2:131797874G>A	uc002tsa.1	+	7	1484	c.965G>A	c.(964-966)aGc>aAc	p.S322N	ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Missense_Mutation_p.S322N|ARHGEF4_uc010fmx.1_Intron|ARHGEF4_uc002tsc.1_5'UTR	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 4 (ARHGEF4), transcript variant 1, mRNA.	322	DH.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein domain specific binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GACATGTTCAGCGAGGAGCAG	0.682													3	47					0	0	1	0	0	A	131797874	G	A	131797874	3	1	205	1	0	0	0	0	1	0	0	0	908	971	34	3	987	3	ARHGEF4	2	131797874	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08	31622490	131797874	111401499	7	8845											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								23	44					0	0	1	0	0	T	209113112	C	T	209113112	3	4	205	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7695-01A-11D-2253-08	77315238	209113112	34086261	8	8846											
CELSR3	1951	broad.mit.edu	37	chr3	48684252	48684252	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcagtccccctaaggtgcgGtaaacgaggagaatgataat	14	7	12	8	2	0	2	0	1	0	1	1	4	1	2	2	3	3	2	2	3	5	3			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr3:48684252G>A	uc003cuf.1	-	22	7449	c.7449C>T	c.(7447-7449)taC>taT	p.Y2483Y	CELSR3_uc010hkf.3_5'Flank|CELSR3_uc010hkg.3_Silent_p.Y396Y|CELSR3_uc003cul.3_Silent_p.Y2413Y|CELSR3_uc021wxq.1_5'Flank	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2413	GPS.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTAAGGTGCGGTAAACGAGGA	0.602													3	44					0	0	1	0	0	A	48684252	G	A	48684252	2	1	205	1	0	0	0	0	0	0	0	1	3223	1256	44	3		3	CELSR3	3	48684252	Silent	SNP	G	TCGA-HT-7695-01A-11D-2253-08		48684252	149338178	9	8847											
ITIH1	3697	broad.mit.edu	37	chr3	52812973	52812973	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagtacagcagatggaaaCgcatttatcggagacataaa	16	8	10	7	2	0	2	0	0	0	2	1	4	0	3	0	2	4	4	0	2	5	4	rs151186293	byFrequency	TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr3:52812973C>T	uc003dfs.3	+	3	351	c.321C>T	c.(319-321)aaC>aaT	p.N107N	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_5'UTR|ITIH1_uc021wzg.1_5'Flank|ITIH1_uc021wzh.1_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	107	VIT.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CAGATGGAAACGCATTTATCG	0.547													18	67					0	0	1	0	0	T	52812973	C	T	52812973	2	4	205	1	0	0	0	0	0	0	0	1	7903	535	19	1		1	ITIH1	3	52812973	Silent	SNP	C	TCGA-HT-7695-01A-11D-2253-08	4128721	52812973	145209457	10	8848											
BMP2K	55589	broad.mit.edu	37	chr4	79832652	79832652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgtcctctcgccaaaggcGcacaaagcaggatatgtcca	12	7	9	13	2	1	0	0	0	1	0	4	1	3	1	3	2	1	2	3	2	3	1			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr4:79832652G>A	uc003hlk.3	+	15	3117	c.2951G>A	c.(2950-2952)cGc>cAc	p.R984H	PAQR3_uc003hlm.3_Intron|PAQR3_uc003hln.3_Intron|BMP2K_uc010ijm.2_5'UTR	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	Homo sapiens BMP2 inducible kinase (BMP2K), transcript variant 1, mRNA.	984						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						CGCCAAAGGCGCACAAAGCAG	0.502													3	63					0	0	1	0	0	A	79832652	G	A	79832652	3	1	205	1	0	0	0	0	1	0	0	0	1460	1087	38	1	3051	1	BMP2K	4	79832652	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08		79832652	111321624	11	8849											
PCDHAC2	56134	broad.mit.edu	37	chr5	140263554	140263554	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgctccggcgctgctgacGcccggggctggcagcgcggg	4	4	18	15	7	0	1	0	1	0	0	1	1	1	1	2	5	3	5	2	5	1	0			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr5:140263554G>A	uc003lif.2	+	0	1701	c.1701G>A	c.(1699-1701)acG>acA	p.T567T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.T567T|PCDHAC2_uc003lid.3_Silent_p.T567T	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	581	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGCTGACGCCCGGGGCTG	0.711													6	146					0	0	1	0	0	A	140263554	G	A	140263554	2	1	205	1	0	0	0	0	0	0	0	1	11533	1074	38	1		1	PCDHAC2	5	140263554	Silent	SNP	G	TCGA-HT-7695-01A-11D-2253-08		140263554	40651706	12	8850											
ZBTB9	221504	broad.mit.edu	37	chr6	33423522	33423522	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attcaggtggaagaagaagaGgaggaggaggaagatgatga	17	5	18	1	0	1	6	1	2	0	4	1	11	1	11	0	6	0	0	0	6	4	1			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr6:33423522G>A	uc003oeq.3	+	1	913	c.645G>A	c.(643-645)gaG>gaA	p.E215E	ZBTB9_uc021ywp.1_Silent_p.E215E	NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN	Homo sapiens zinc finger and BTB domain containing 9 (ZBTB9), mRNA.	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						aagaagaagaggaggaggagg	0.552													3	76					0	0	1	0	0	A	33423522	G	A	33423522	2	1	205	1	0	0	0	0	0	0	0	1	17555	991	35	3		3	ZBTB9	6	33423522	Silent	SNP	G	TCGA-HT-7695-01A-11D-2253-08		33423522	137691545	13	8851											
CNR1	1268	broad.mit.edu	37	chr6	88854091	88854091	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcggacggcgtggctgtgAgccttccagagaatatacat	10	9	13	9	3	0	2	0	1	0	1	1	4	1	3	2	3	3	1	2	3	3	3			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr6:88854091A>G	uc010kbz.3	-	1	1033	c.903T>C	c.(901-903)gcT>gcC	p.A301A	CNR1_uc011dzr.2_Silent_p.A301A|CNR1_uc011dzs.2_Silent_p.A301A|CNR1_uc003pmq.4_Silent_p.A301A|CNR1_uc011dzt.2_Silent_p.A301A|CNR1_uc010kca.3_Silent_p.A268A|CNR1_uc021zco.1_Silent_p.A301A	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	301					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CGTGGCTGTGAGCCTTCCAGA	0.537													11	80					0	0	1	0	0	G	88854091	A	G	88854091	2	3	205	1	0	0	0	0	0	0	0	1	3631	291	11	4		4	CNR1	6	88854091	Silent	SNP	A	TCGA-HT-7695-01A-11D-2253-08	55430569	88854091	82260976	14	8852											
CDK19	23097	broad.mit.edu	37	chr6	110953281	110953281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagcaaaagttctggagcccGataccaaaatgtcacaacta	17	7	7	10	1	2	0	1	0	1	0	2	2	2	1	2	1	4	2	2	1	8	3			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr6:110953281G>A	uc003puh.1	-	5	671	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W	CDK19_uc003pui.1_Missense_Mutation_p.R140W|CDK19_uc011eax.1_Missense_Mutation_p.R76W	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN	Homo sapiens cyclin-dependent kinase 19 (CDK19), mRNA.	200	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						TCTGGAGCCCGATACCAAAAT	0.358													8	87					0	0	1	0	0	A	110953281	G	A	110953281	3	1	205	1	0	0	0	0	1	0	0	0	3135	1057	37	2	942	2	CDK19	6	110953281	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08	22099190	110953281	60161786	15	8853											
LRRCC1	85444	broad.mit.edu	37	chr8	86049720	86049720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttctctagcccaaaatcGtggaaaattggaggctcaaa	14	10	8	9	1	3	0	1	0	2	0	5	2	3	2	1	3	1	1	1	3	6	3			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr8:86049720G>A	uc003ycw.3	+	14	2559	c.2351G>A	c.(2350-2352)cGt>cAt	p.R784H	LRRCC1_uc022awx.1_Missense_Mutation_p.R691H|LRRCC1_uc010maa.2_Missense_Mutation_p.R485H|LRRCC1_uc003ycy.3_Missense_Mutation_p.R764H	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	784					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GCCCAAAATCGTGGAAAATTG	0.333													18	28					0	0	1	0	0	A	86049720	G	A	86049720	3	1	205	1	0	0	0	0	1	0	0	0	9026	1145	40	1	2409	1	LRRCC1	8	86049720	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08		86049720	60314302	16	8854											
FAM189A2	9413	broad.mit.edu	37	chr9	71992346	71992346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaccgtctgcttggtggccGctgccctccgctacctccag	3	9	10	19	3	1	0	0	0	1	0	3	0	3	0	7	2	3	3	7	2	1	2			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr9:71992346G>A	uc010mon.1	+	4	417	c.313G>A	c.(313-315)Gct>Act	p.A105T	FAM189A2_uc004ahg.2_Missense_Mutation_p.A105T|FAM189A2_uc010moo.1_5'UTR	NM_001127608	NP_004807	Q15884	F1892_HUMAN	Homo sapiens family with sequence similarity 189, member A2 (FAM189A2), transcript variant 2, mRNA.	105						integral to membrane		p.A105T(2)		endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTTGGTGGCCGCTGCCCTCCG	0.557													4	142					0	0	1	0	0	A	71992346	G	A	71992346	3	1	205	1	0	0	0	0	1	0	0	0	5516	1087	38	1	327	1	FAM189A2	9	71992346	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08		71992346	69221085	17	8855											
CORO2A	7464	broad.mit.edu	37	chr9	100897160	100897160	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccaggcctactctgcgCgcgtggcccacgagttcctt	5	9	10	17	4	1	0	0	0	1	0	3	1	3	0	5	2	2	1	5	2	1	3	rs147316581	by1000genomes	TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr9:100897160C>T	uc004aym.3	-	3	512	c.396G>A	c.(394-396)gcG>gcA	p.A132A	CORO2A_uc004ayl.3_Silent_p.A132A	NM_052820	NP_438171	Q92828	COR2A_HUMAN	Homo sapiens coronin, actin binding protein, 2A (CORO2A), transcript variant 2, mRNA.	132					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding	p.A132A(2)		endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CTACTCTGCGCGCGTGGCCCA	0.602													25	42					0	0	1	0	0	T	100897160	C	T	100897160	2	4	205	1	0	0	0	0	0	0	0	1	3756	755	27	1		1	CORO2A	9	100897160	Silent	SNP	C	TCGA-HT-7695-01A-11D-2253-08	28904814	100897160	40316271	18	8856											
RAPGEF1	2889	broad.mit.edu	37	chr9	134455699	134455699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgttgaactgctgccaccGcttggagaagttcactttcc	8	12	10	11	1	1	2	1	1	0	1	2	4	2	2	3	1	3	4	3	1	2	4			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr9:134455699G>A	uc022bos.1	-	22	3247	c.3088C>T	c.(3088-3090)Cgg>Tgg	p.R1030W	RAPGEF1_uc022bot.1_Missense_Mutation_p.R1012W	NM_198679	NP_941372	Q13905	RPGF1_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 1 (RAPGEF1), transcript variant 2, mRNA.	1012	Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TGCTGCCACCGCTTGGAGAAG	0.632													25	44					0	0	1	0	0	A	134455699	G	A	134455699	3	1	205	1	0	0	0	0	1	0	0	0	13043	1086	38	1	207	1	RAPGEF1	9	134455699	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08	33558539	134455699	6757732	19	8857											
DCHS1	8642	broad.mit.edu	37	chr11	6662142	6662142	+	Frame_Shift_Del	DEL	G	G	-																															cagcagggcctgggccctccGggggggtgaaccaccatcat																										TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr11:6662142delG	uc001mem.1	-	1	1104	c.703delC	c.(703-705)cggfs	p.R235fs		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	235	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R235Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGCCCTCCGGGGGGGTGAA	0.587													8	273	---	---	---	---						-	6662142	G	-	6662142	7	5	205	1	0	1	0	1	0	0	0	0	4287	1115	39	0	9273	0	DCHS1	11	6662142	Frame_Shift_Del	DEL	G	TCGA-HT-7695-01A-11D-2253-08		6662142	128344374	20	8858											
SPATA5L1	79029	broad.mit.edu	37	chr15	45713342	45713342	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaaaaccgtcgttaagttgCaaggacttggctttatatga	12	13	10	6	2	0	1	0	1	0	0	1	2	0	2	1	2	2	5	1	2	6	7			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr15:45713342C>T	uc001zve.3	+	7	2305	c.2196C>T	c.(2194-2196)tgC>tgT	p.C732C	SPATA5L1_uc001zvf.3_Non-coding_Transcript	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	Homo sapiens spermatogenesis associated 5-like 1 (SPATA5L1), transcript variant 1, mRNA.	732						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		CGTTAAGTTGCAAGGACTTGG	0.353													7	22					0	0	1	0	0	T	45713342	C	T	45713342	2	4	205	1	0	0	0	0	0	0	0	1	15011	718	25	3		3	SPATA5L1	15	45713342	Silent	SNP	C	TCGA-HT-7695-01A-11D-2253-08		45713342	56818050	21	8859											
SEZ6L2	26470	broad.mit.edu	37	chr16	29897045	29897045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atagatcacgggggatagggGgctgccccctgagcgcacca	9	5	15	12	2	1	2	1	1	0	1	1	3	1	3	3	4	2	2	3	4	2	2			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr16:29897045G>A	uc010vec.2	-	7	1479	c.1234C>T	c.(1234-1236)Ccc>Tcc	p.P412S	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.P342S|SEZ6L2_uc002dur.4_Missense_Mutation_p.P342S|SEZ6L2_uc002duq.4_Missense_Mutation_p.P412S|SEZ6L2_uc010ved.2_Missense_Mutation_p.P368S|SEZ6L2_uc002dus.4_Missense_Mutation_p.P298S	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	412	CUB 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGGATAGGGGGCTGCCCCCT	0.602													16	74					0	0	1	0	0	A	29897045	G	A	29897045	3	1	205	1	0	0	0	0	1	0	0	0	14144	1232	43	3	1581	3	SEZ6L2	16	29897045	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08		29897045	60457708	22	8860											
RLTPR	146206	broad.mit.edu	37	chr16	67688719	67688719	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaacagaactggctccAtcctttgaacagcgggtaca	13	7	11	10	1	0	3	0	1	0	2	2	4	2	3	2	3	5	2	2	3	4	2			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr16:67688719A>G	uc002etn.3	+	31	3741	c.3621A>G	c.(3619-3621)ccA>ccG	p.P1207P	RLTPR_uc010vjr.2_Silent_p.P1171P	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	1207										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		AACTGGCTCCATCCTTTGAAC	0.622													54	154					0	0	1	0	0	G	67688719	A	G	67688719	2	3	205	1	0	0	0	0	0	0	0	1	13394	204	8	3		3	RLTPR	16	67688719	Silent	SNP	A	TCGA-HT-7695-01A-11D-2253-08	37791674	67688719	22666034	23	8861											
MYH3	4621	broad.mit.edu	37	chr17	10533673	10533673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgctcggcctcatctagacGatgctgcaggtccttcaccg	6	10	10	15	3	3	1	2	0	1	1	5	2	4	1	3	2	3	3	3	2	1	2			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr17:10533673G>A	uc002gmq.2	-	36	5477	c.5389C>T	c.(5389-5391)Cgt>Tgt	p.R1797C		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1797					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCATCTAGACGATGCTGCAGG	0.607													17	157					0	0	1	0	0	A	10533673	G	A	10533673	3	1	205	1	0	0	0	0	1	0	0	0	10036	1058	37	2	453	2	MYH3	17	10533673	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08		10533673	70661537	24	8862											
SCN4A	6329	broad.mit.edu	37	chr17	62043903	62043903	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccctccaggaagtagaagttCcctttgggagtcagaggcca	10	8	12	11	0	1	2	1	0	0	2	3	4	3	4	4	3	0	2	4	3	3	3			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr17:62043903C>T	uc002jds.1	-	7	1114	c.1037_splice	c.e7-1	p.G346_splice		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	346					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AGTAGAAGTTCCCTTTGGGAG	0.582													8	39					0	0	1	0	0	T	62043903	C	T	62043903	5	4	205	1	0	0	0	0	0	0	1	0	13920	869	30	3	4544	3	SCN4A	17	62043903	Splice_Site	SNP	C	TCGA-HT-7695-01A-11D-2253-08	51510230	62043903	19151307	25	8863											
CIC	23152	broad.mit.edu	37	chr19	42798840	42798840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaccctggaccagcgccGggccctggtcatgcagctct	5	6	13	17	3	2	0	1	0	1	0	2	1	2	1	4	3	3	3	4	3	0	0			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr19:42798840G>A	uc002otf.1	+	18	4452	c.4412G>A	c.(4411-4413)cGg>cAg	p.R1471Q		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GACCAGCGCCGGGCCCTGGTC	0.612			"Mis, F, S"		oligodendroglioma								17	67					0	0	1	0	0	A	42798840	G	A	42798840	3	1	205	1	0	0	0	0	1	0	0	0	3424	1116	39	2	4486	2	CIC	19	42798840	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08		42798840	16330143	26	8864											
WFDC10A	140832	broad.mit.edu	37	chr20	44258532	44258532	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggaggataccgtgacaagaAgaggatgcagagtaggtgat	14	6	17	4	1	0	5	0	2	0	3	0	8	0	8	1	4	2	2	1	4	4	2			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr20:44258532A>T	uc002xoz.3	+	0	148	c.80A>T	c.(79-81)aAg>aTg	p.K27M	WFDC9_uc002xoy.3_Intron	NM_080753	NP_542791	Q9H1F0	WF10A_HUMAN	Homo sapiens WAP four-disulfide core domain 10A (WFDC10A), mRNA.	27						extracellular region	serine-type endopeptidase inhibitor activity			large_intestine(2)	2		Myeloproliferative disorder(115;0.0122)				CGTGACAAGAAGAGGATGCAG	0.587											OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	68					0	0	1	0	0	T	44258532	A	T	44258532	3	4	205	1	0	0	0	0	1	0	0	0	17344	72	3	5	82	5	WFDC10A	20	44258532	Missense_Mutation	SNP	A	TCGA-HT-7695-01A-11D-2253-08		44258532	18766988	27	8865											
C1QTNF6	114904	broad.mit.edu	37	chr22	37578623	37578623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggccgtcttgcggcccaCtgagaaggcgaagaagcgct	9	5	15	12	4	1	2	0	1	1	2	1	4	1	2	2	3	2	1	2	3	3	1			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr22:37578623C>T	uc003aqx.1	-	2	705	c.442G>A	c.(442-444)Gtg>Atg	p.V148M	C1QTNF6_uc003aqw.1_Missense_Mutation_p.V129M|C1QTNF6_uc003aqy.1_Missense_Mutation_p.V148M|C1QTNF6_uc003aqz.1_Splice_Site	NM_182486	NP_872292	Q9BXI9	C1QT6_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 6 (C1QTNF6), transcript variant 2, mRNA.	129	C1q.					collagen				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						TTGCGGCCCACTGAGAAGGCG	0.657													4	84					0	0	1	0	0	T	37578623	C	T	37578623	3	4	205	1	0	0	0	0	1	0	0	0	1967	565	20	3	398	3	C1QTNF6	22	37578623	Missense_Mutation	SNP	C	TCGA-HT-7695-01A-11D-2253-08		37578623	13725943	28	8866											
SHROOM2	357	broad.mit.edu	37	chrX	9905237	9905237	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccatcaagatcgtgcactcGgagagccagccagagaagga	13	4	12	12	2	1	3	1	0	0	3	3	6	1	4	3	2	3	1	3	2	2	0			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chrX:9905237G>A	uc004csu.1	+	6	3741	c.3651G>A	c.(3649-3651)tcG>tcA	p.S1217S	SHROOM2_uc004csv.2_Silent_p.S52S|SHROOM2_uc011mic.1_Silent_p.S52S|SHROOM2_uc004csw.1_Silent_p.S52S	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	1217					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	p.S1217L(1)		breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TCGTGCACTCGGAGAGCCAGC	0.587													5	17					0	0	1	0	0	A	9905237	G	A	9905237	2	1	205	1	0	0	0	0	0	0	0	1	14294	1103	39	2		2	SHROOM2	23	9905237	Silent	SNP	G	TCGA-HT-7695-01A-11D-2253-08		9905237	145365323	29	8867											
FIGF	2277	broad.mit.edu	37	chrX	15365420	15365420	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttttacagacacactcgcaAcgatcttcgtcaaacatcat	13	11	5	12	3	3	1	2	0	1	1	5	2	3	1	0	0	3	2	0	0	3	3			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chrX:15365420A>G	uc004cwt.2	-	5	1271	c.804T>C	c.(802-804)cgT>cgC	p.R268R	FIGF_uc022bth.1_Non-coding_Transcript	NM_004469	NP_004460	O43915	VEGFD_HUMAN	Homo sapiens c-fos induced growth factor (vascular endothelial growth factor D) (FIGF), mRNA.	268	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					CACACTCGCAACGATCTTCGT	0.473													12	104					0	0	1	0	0	G	15365420	A	G	15365420	2	3	205	1	0	0	0	0	0	0	0	1	5889	30	2	3		3	FIGF	23	15365420	Silent	SNP	A	TCGA-HT-7695-01A-11D-2253-08	5460183	15365420	139905140	30	8868											
HEPH	9843	broad.mit.edu	37	chrX	65427079	65427079	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacaaggatgggctcctgggTtccagatacaagaaagctgt	13	8	12	8	0	0	2	0	0	0	2	2	3	2	3	2	3	3	3	2	3	5	2			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chrX:65427079T>A	uc011moz.2	+	13	2633	c.2496T>A	c.(2494-2496)ggT>ggA	p.G832G	HEPH_uc004dwn.3_Silent_p.G781G|HEPH_uc004dwo.3_Silent_p.G511G|HEPH_uc010nkr.3_Silent_p.G589G|HEPH_uc011mpa.2_Silent_p.G781G|HEPH_uc010nks.3_Silent_p.G70G	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	778	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GGCTCCTGGGTTCCAGATACA	0.463													8	37					0	0	1	0	0	A	65427079	T	A	65427079	2	1	205	1	0	0	0	0	0	0	0	1	7054	1712	60	5		5	HEPH	23	65427079	Silent	SNP	T	TCGA-HT-7695-01A-11D-2253-08	50061659	65427079	89843481	31	8869											
CXCR3	2833	broad.mit.edu	37	chrX	70837109	70837109	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcacggctgccaccgcgccGttgcccagcagccccagcag	7	3	12	19	4	0	0	0	0	0	0	0	0	0	0	6	1	6	5	6	1	0	1			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chrX:70837109G>A	uc022bys.1	-	0	354	c.354C>T	c.(352-354)aaC>aaT	p.N118N	BCYRN1_uc011mpt.1_Intron|CXCR3_uc004eaf.3_Silent_p.N71N|CXCR3_uc011mpx.2_Silent_p.N118N	NM_001142797	NP_001136269	P49682	CXCR3_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 3 (CXCR3), transcript variant 2, mRNA.	71					cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					CCACCGCGCCGTTGCCCAGCA	0.667													3	14					0	0	1	0	0	A	70837109	G	A	70837109	2	1	205	1	0	0	0	0	0	0	0	1	4092	1136	40	1		1	CXCR3	23	70837109	Silent	SNP	G	TCGA-HT-7695-01A-11D-2253-08	5410030	70837109	84433451	32	8870											
ZCCHC12	170261	broad.mit.edu	37	chrX	117959418	117959418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgacccaagtcaatggcGtcctgccagattggaatatg	10	9	12	10	1	1	2	1	1	0	1	2	3	2	3	3	3	1	1	3	3	4	2			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chrX:117959418G>A	uc004equ.3	+	3	684	c.211G>A	c.(211-213)Gtc>Atc	p.V71I	ZCCHC12_uc022cdh.1_Missense_Mutation_p.V71I	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	Homo sapiens zinc finger, CCHC domain containing 12 (ZCCHC12), mRNA.	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	p.V71I(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						agtcaatggcgtcctgccaga	0.557													5	97					0	0	1	0	0	A	117959418	G	A	117959418	3	1	205	1	0	0	0	0	1	0	0	0	17578	1145	40	1	213	1	ZCCHC12	23	117959418	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08	47122309	117959418	37311142	33	8871											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	17	0	24	0	0	0	3	0	0	0	3	0	14	0	13	0	10	0	0	0	10	3	0			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chrX:150156360G>A	uc004fep.3	+	4	668	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_uc004feq.3_3'UTR|HMGB3_uc004fer.3_Silent_p.E192E	NM_005342	NP_005333	O15347	HMGB3_HUMAN	Homo sapiens high mobility group box 3 (HMGB3), mRNA.	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(2)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443													5	55					0	0	1	0	0	A	150156360	G	A	150156360	2	1	205	1	0	0	0	0	0	0	0	1	7227	991	35	3		3	HMGB3	23	150156360	Silent	SNP	G	TCGA-HT-7695-01A-11D-2253-08	32196942	150156360	5114200	34	8872											
WDR78	79819	broad.mit.edu	37	chr1	67371036	67371037	+	Frame_Shift_Ins	INS	-	-	A																															gcaaaaaagctaatagacttINSctttggttgtgtggcattgt																										TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr1:67371036_67371037insA	uc001dcx.3	-	1	248_249	c.192_193insT	c.(190-195)aagaagfs	p.K64fs	WDR78_uc001dcy.3_Frame_Shift_Ins_p.K64fs	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.	64										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CTAATAGACTTCTTTGGTTGTG	0.322													16	16	---	---	---	---						A	67371037	-	A	67371036	7	5	206	1	0	1	1	0	0	0	0	0	17325	1792	62	0	2474	0	WDR78	1	67371036	Frame_Shift_Ins	INS	-	TCGA-HT-7854-01A-11D-2253-08		67371036	181879585	1	8873											
AMPD2	271	broad.mit.edu	37	chr1	110168798	110168798	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaggctggagccagacatcCtgcttcgggccaagcaagat	10	7	12	12	1	0	2	0	0	0	2	2	3	1	3	3	3	3	3	3	3	3	2			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr1:110168798C>G	uc009wfh.1	+	4	1074	c.532C>G	c.(532-534)Ctg>Gtg	p.L178V	AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Missense_Mutation_p.L97V|AMPD2_uc001dyc.1_Missense_Mutation_p.L178V|AMPD2_uc010ovr.1_Missense_Mutation_p.L103V|AMPD2_uc010ovs.1_Missense_Mutation_p.L60V|AMPD2_uc001dyd.1_Missense_Mutation_p.L59V	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	178					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCCAGACATCCTGCTTCGGGC	0.632													10	38					0	0	1	0	0	G	110168798	C	G	110168798	3	3	206	1	0	0	0	0	1	0	0	0	586	680	24	5	587	5	AMPD2	1	110168798	Missense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08	42797762	110168798	139081823	2	8874											
LCE2B	26239	broad.mit.edu	37	chr1	152659476	152659476	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgctgtggtcccatctctGggggctgctgtggtcccagc	2	12	14	13	0	1	0	0	0	1	0	4	0	3	0	2	4	3	3	2	4	0	1			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr1:152659476G>T	uc001fai.3	+	1	211	c.157G>T	c.(157-159)Ggg>Tgg	p.G53W	LCE2B_uc021ozd.1_Missense_Mutation_p.G53W	NM_014357	NP_055172	O14633	LCE2B_HUMAN	Homo sapiens late cornified envelope 2B (LCE2B), mRNA.	53	Cys-rich.				keratinization					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCCATCTCTGGGGGCTGCTG	0.642													11	248					0.000978159	0.00102262	1	1	0	T	152659476	G	T	152659476	3	4	206	1	0	0	0	0	1	0	0	0	8666	1348	47	5	159	5	LCE2B	1	152659476	Missense_Mutation	SNP	G	TCGA-HT-7854-01A-11D-2253-08	42490678	152659476	96591145	3	8875											
FCRL3	115352	broad.mit.edu	37	chr1	157665876	157665876	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaggatggggctgtgaacGttatcagctgcacagtagta	10	10	14	7	1	1	2	1	2	0	0	1	3	1	3	0	3	3	6	0	3	4	3			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr1:157665876G>A	uc001fqz.4	-	6	1378	c.1086C>T	c.(1084-1086)aaC>aaT	p.N362N	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_Silent_p.N88N|FCRL3_uc001frb.3_Silent_p.N362N|FCRL3_uc001frc.1_Silent_p.N362N	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	362	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GGCTGTGAACGTTATCAGCTG	0.532													7	75					0	0	1	0	0	A	157665876	G	A	157665876	2	1	206	1	0	0	0	0	0	0	0	1	5796	1136	40	1		1	FCRL3	1	157665876	Silent	SNP	G	TCGA-HT-7854-01A-11D-2253-08	5006400	157665876	91584745	4	8876											
PRG4	10216	broad.mit.edu	37	chr1	186276406	186276406	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggagccttcacccaccactCccaaggagcctgcacccacc	10	4	7	20	0	1	0	1	0	0	0	2	2	2	2	7	2	3	1	7	2	1	1			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr1:186276406C>A	uc001gru.4	+	6	1606	c.1555C>A	c.(1555-1557)Ccc>Acc	p.P519T	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.P478T|PRG4_uc009wyl.3_Missense_Mutation_p.P426T|PRG4_uc009wym.3_Missense_Mutation_p.P385T|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	519	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACTCCCAAGGAGCC	0.642													5	121					0.248553	0.248553	1	1	0	A	186276406	C	A	186276406	3	1	206	1	0	0	0	0	1	0	0	0	12481	855	30	5	1577	5	PRG4	1	186276406	Missense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08	28610530	186276406	62974215	5	8877											
ASPRV1	151516	broad.mit.edu	37	chr2	70188202	70188202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtccaccaggaacctcaCgggcactttgccaatcttcc	10	8	8	15	1	2	1	1	0	1	1	4	2	4	2	5	2	2	1	5	2	2	2			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr2:70188202C>T	uc002sfz.4	-	0	1196	c.619G>A	c.(619-621)Gtg>Atg	p.V207M		NM_152792	NP_690005	Q53RT3	APRV1_HUMAN	Homo sapiens aspartic peptidase, retroviral-like 1 (ASPRV1), mRNA.	207	Peptidase A2.				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity	p.V207A(1)		endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						AGGAACCTCACGGGCACTTTG	0.597													4	72					0	0	1	0	0	T	70188202	C	T	70188202	3	4	206	1	0	0	0	0	1	0	0	0	1058	536	19	1	416	1	ASPRV1	2	70188202	Missense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08		70188202	173011171	6	8878											
PHLDB2	90102	broad.mit.edu	37	chr3	111604041	111604042	+	Frame_Shift_Ins	INS	-	-	CAGA																															ttcacttcttgctggagagtINScagacagagtttttgcgacc																										TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr3:111604041_111604042insCAGA	uc010hqa.3	+	1	1528_1529	c.1117_1118insCAGA	c.(1117-1119)tcafs	p.S373fs	PHLDB2_uc003dyc.3_Frame_Shift_Ins_p.S400fs|PHLDB2_uc003dyd.3_Frame_Shift_Ins_p.S373fs|PHLDB2_uc003dyg.3_Frame_Shift_Ins_p.S373fs|PHLDB2_uc003dyh.3_Frame_Shift_Ins_p.S373fs|PHLDB2_uc003dye.4_Frame_Shift_Ins_p.S373fs|PHLDB2_uc003dyf.4_Frame_Shift_Ins_p.S373fs	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	373						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGCTGGAGAGTCAGACAGAGTT	0.515													23	80	---	---	---	---						CAGA	111604042	-	CAGA	111604041	7	5	206	1	0	1	1	0	0	0	0	0	11852	1667	58	0	1204	0	PHLDB2	3	111604041	Frame_Shift_Ins	INS	-	TCGA-HT-7854-01A-11D-2253-08		111604041	86418389	7	8879											
GRID2	2895	broad.mit.edu	37	chr4	94436513	94436513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggcggatgatcaaccgaaGcaatggatcggagaacaatg	14	6	14	7	3	1	2	1	1	0	1	2	6	1	4	1	4	3	1	1	4	5	0			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr4:94436513G>A	uc011cdt.2	+	12	2402	c.2144G>A	c.(2143-2145)aGc>aAc	p.S715N	GRID2_uc011cdu.2_Missense_Mutation_p.S620N	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	715					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ATCAACCGAAGCAATGGATCG	0.473													20	74					0	0	1	0	0	A	94436513	G	A	94436513	3	1	206	1	0	0	0	0	1	0	0	0	6772	971	34	3	2194	3	GRID2	4	94436513	Missense_Mutation	SNP	G	TCGA-HT-7854-01A-11D-2253-08		94436513	96717763	8	8880											
PDE4D	5144	broad.mit.edu	37	chr5	58489358	58489358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcacaatcaagtcatctcCgtgtctgaaaaataaaccaa	17	9	5	10	1	5	1	3	1	2	0	6	1	5	1	2	0	1	0	2	0	7	1			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr5:58489358C>T	uc003jsa.2	-	2	824	c.652G>A	c.(652-654)Gga>Aga	p.G218R	PDE4D_uc003jrx.2_Missense_Mutation_p.G82R|PDE4D_uc003jry.3_5'UTR|PDE4D_uc003jrz.3_Missense_Mutation_p.G154R|PDE4D_uc003jsb.3_Missense_Mutation_p.G157R|PDE4D_uc003jsc.3_Missense_Mutation_p.G154R|PDE4D_uc003jrv.2_Missense_Mutation_p.G88R|PDE4D_uc003jrw.2_Missense_Mutation_p.G96R|PDE4D_uc010iwi.1_Missense_Mutation_p.G50R	NM_001104631	NP_001098101	Q08499	PDE4D_HUMAN	Homo sapiens phosphodiesterase 4D, cAMP-specific (PDE4D), transcript variant 1, mRNA.	218					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	AAGTCATCTCCGTGTCTGAAA	0.398													6	25					0	0	1	0	0	T	58489358	C	T	58489358	3	4	206	1	0	0	0	0	1	0	0	0	11642	661	23	2	1829	2	PDE4D	5	58489358	Missense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08		58489358	122425902	9	8881											
GPR98	84059	broad.mit.edu	37	chr5	90119413	90119413	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgaactcaaaccagaaaaGgtaagaaatgaagagacaca	22	5	8	6	0	1	5	1	2	0	3	1	6	1	5	1	1	2	1	1	1	7	2			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr5:90119413G>A	uc003kju.3	+	76	16464	c.16368_splice	c.e76+1	p.K5456_splice	GPR98_uc003kjt.3_Splice_Site_p.K3162_splice|GPR98_uc003kjw.3_Splice_Site_p.K1117_splice	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5456	Calx-beta 35.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AACCAGAAAAGGTAAGAAATG	0.363													10	13					0	0	1	0	0	A	90119413	G	A	90119413	5	1	206	1	0	0	0	0	0	0	1	0	6721	1014	35	3	16670	3	GPR98	5	90119413	Splice_Site	SNP	G	TCGA-HT-7854-01A-11D-2253-08	31630055	90119413	90795847	10	8882											
PCDHB1	29930	broad.mit.edu	37	chr5	140432731	140432731	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctagatgacaatgacaatcGtccaatgatcttatacccac	14	10	5	12	1	1	4	0	3	1	1	3	4	2	4	3	0	1	0	3	0	6	3			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr5:140432731G>A	uc003lik.1	+	0	1753	c.1676G>A	c.(1675-1677)cGt>cAt	p.R559H		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	559	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R559H(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGACAATCGTCCAATGATC	0.502													22	44					0	0	1	0	0	A	140432731	G	A	140432731	3	1	206	1	0	0	0	0	1	0	0	0	11534	1145	40	1	1678	1	PCDHB1	5	140432731	Missense_Mutation	SNP	G	TCGA-HT-7854-01A-11D-2253-08	50313318	140432731	40482529	11	8883											
ATP10B	23120	broad.mit.edu	37	chr5	160061402	160061402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctgcccatgatggtgcaaCgtcggaacaccatcttgttc	8	10	10	13	3	1	1	0	1	1	0	3	2	1	2	2	2	4	3	2	2	2	2			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr5:160061402C>T	uc003lym.1	-	11	2187	c.1340G>A	c.(1339-1341)cGt>cAt	p.R447H	ATP10B_uc003lyp.2_Missense_Mutation_p.R447H|ATP10B_uc011deg.1_Missense_Mutation_p.R491H|ATP10B_uc003lyn.3_Missense_Mutation_p.R5H|ATP10B_uc003lyo.2_Missense_Mutation_p.R419H	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	447					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.R447C(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATGGTGCAACGTCGGAACAC	0.507													26	45					0	0	1	0	0	T	160061402	C	T	160061402	3	4	206	1	0	0	0	0	1	0	0	0	1117	536	19	1	3105	1	ATP10B	5	160061402	Missense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08	19628671	160061402	20853858	12	8884											
FGFR4	2264	broad.mit.edu	37	chr5	176519745	176519745	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcctcgcaggcaattccatCggcctctcctaccagtctgc	6	10	8	17	2	2	0	0	0	2	0	6	0	3	0	5	2	3	2	5	2	2	2			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr5:176519745C>T	uc003mfl.3	+	7	1184	c.1017C>T	c.(1015-1017)atC>atT	p.I339I	FGFR4_uc003mfm.3_Silent_p.I339I|FGFR4_uc011dfu.2_Silent_p.I339I|FGFR4_uc011dfw.1_Silent_p.I339I|FGFR4_uc003mfo.3_Silent_p.I339I	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	339	Ig-like C2-type 3.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GCAATTCCATCGGCCTCTCCT	0.632										TSP Lung(9;0.080)			5	124					0	0	1	0	0	T	176519745	C	T	176519745	2	4	206	1	0	0	0	0	0	0	0	1	5868	874	31	2		2	FGFR4	5	176519745	Silent	SNP	C	TCGA-HT-7854-01A-11D-2253-08	16458343	176519745	4395515	13	8885											
TRIM15	89870	broad.mit.edu	37	chr6	30131720	30131720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacttactgcgaggagcacGgcgagaagatctacttcttc	12	9	10	10	3	2	2	0	0	2	2	3	5	2	3	0	2	5	1	0	2	4	4			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr6:30131720G>A	uc010jrx.3	+	0	738	c.259G>A	c.(259-261)Ggc>Agc	p.G87S		NM_033229	NP_150232	Q9C019	TRI15_HUMAN	Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.	87					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CGAGGAGCACGGCGAGAAGAT	0.632													3	46					0	0	1	0	0	A	30131720	G	A	30131720	3	1	206	1	0	0	0	0	1	0	0	0	16487	1116	39	2	261	2	TRIM15	6	30131720	Missense_Mutation	SNP	G	TCGA-HT-7854-01A-11D-2253-08		30131720	140983347	14	8886											
DAXX	1616	broad.mit.edu	37	chr6	33287900	33287900	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcctcctcttcttcttcCtcctcctcctcctcttcctc	0	17	1	23	0	4	0	0	0	4	0	13	0	12	0	9	0	0	0	9	0	0	4			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr6:33287900C>T	uc003oec.3	-	4	1557	c.1353G>A	c.(1351-1353)gaG>gaA	p.E451E	ZBTB22_uc003oeb.3_5'Flank|ZBTB22_uc010juu.3_5'Flank|DAXX_uc021ywn.1_Silent_p.E451E|DAXX_uc021ywo.1_Silent_p.E451E|DAXX_uc011dre.2_Silent_p.E463E|DAXX_uc003oed.3_Silent_p.E451E|DAXX_uc011drd.2_Silent_p.E376E	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	451	Asp/Glu-rich (acidic).|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	PML body|chromosome, centromeric region|cytosol|nucleolus	androgen receptor binding|heat shock protein binding|p53 binding|protein N-terminus binding|protein homodimerization activity|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	p.E451E(4)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						cttcttcttcctcctcctcct	0.557			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM								3	30					0	0	1	0	0	T	33287900	C	T	33287900	2	4	206	1	0	0	0	0	0	0	0	1	4243	680	24	3		3	DAXX	6	33287900	Silent	SNP	C	TCGA-HT-7854-01A-11D-2253-08	3156180	33287900	137827167	15	8887											
ABCA13	154664	broad.mit.edu	37	chr7	48506641	48506641	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagatttaaacccacgcCagtaagtgtcaggtgctctc	10	10	10	11	1	2	1	1	0	1	1	3	1	2	1	2	1	3	3	2	1	3	3			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr7:48506641C>T	uc003toq.2	+	44	12929	c.12905_splice	c.e44+1	p.Q4302_splice	ABCA13_uc010kys.1_Splice_Site_p.Q1377_splice|ABCA13_uc010kyt.1_Splice_Site|ABCA13_uc010kyu.1_Intron	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4302			Q -> R (in dbSNP:rs4917153).		transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AAACCCACGCCAGTAAGTGTC	0.473													28	104					0	0	1	0	0	T	48506641	C	T	48506641	5	4	206	1	0	0	0	0	0	0	1	0	31	608	21	3	12907	3	ABCA13	7	48506641	Splice_Site	SNP	C	TCGA-HT-7854-01A-11D-2253-08		48506641	110632022	16	8888											
ABCB1	5243	broad.mit.edu	37	chr7	87183111	87183111	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatagaatattcccctgagAggaccaaggtggtcccatac	13	8	9	11	0	0	2	0	1	0	2	2	4	2	3	4	3	1	0	4	3	6	4			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr7:87183111A>G	uc003uiz.2	-	9	1458	c.965T>C	c.(964-966)cTc>cCc	p.L322P	ABCB1_uc011khc.2_Missense_Mutation_p.L258P	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	322	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTCCCCTGAGAGGACCAAGGT	0.393													19	42					0	0	1	0	0	G	87183111	A	G	87183111	3	3	206	1	0	0	0	0	1	0	0	0	40	304	11	4	2957	4	ABCB1	7	87183111	Missense_Mutation	SNP	A	TCGA-HT-7854-01A-11D-2253-08	38676470	87183111	71955552	17	8889											
MUC17	140453	broad.mit.edu	37	chr7	100676700	100676700	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttcaactgaagccacttCatcttctacaactgcggaag	12	10	6	13	1	4	1	2	1	2	0	4	2	4	2	1	1	5	0	1	1	5	4			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr7:100676700C>A	uc003uxp.1	+	2	2056	c.2003C>A	c.(2002-2004)tCa>tAa	p.S668*	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	668	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAAGCCACTTCATCTTCTACA	0.502													6	323					0.0293803	0.0300332	1	1	0	A	100676700	C	A	100676700	4	1	206	1	0	0	0	0	0	1	0	0	9974	838	29	5	2013	5	MUC17	7	100676700	Nonsense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08	13493589	100676700	58461963	18	8890											
RNF208	727800	broad.mit.edu	37	chr9	140114928	140114928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcacgtggcaggtgcacGcggccccacagtactgccgg	6	5	14	16	5	0	0	0	0	0	0	1	0	1	0	4	4	3	4	4	4	1	1			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr9:140114928G>A	uc004clz.2	-	0	848	c.737C>T	c.(736-738)gCg>gTg	p.A246V		NM_031297	NP_112587	Q9H0X6	RN208_HUMAN	Homo sapiens ring finger protein 208 (RNF208), mRNA.	246							zinc ion binding			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCAGGTGCACGCGGCCCCACA	0.706													3	13					0	0	1	0	0	A	140114928	G	A	140114928	3	1	206	1	0	0	0	0	1	0	0	0	13475	1087	38	1	52	1	RNF208	9	140114928	Missense_Mutation	SNP	G	TCGA-HT-7854-01A-11D-2253-08		140114928	1098503	19	8891											
CPN1	1369	broad.mit.edu	37	chr10	101841262	101841262	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgcgtgatgccggggcattCgttttgcaccttgtacagcg	5	11	13	12	5	0	1	0	1	0	0	1	1	0	1	3	2	4	4	3	2	1	5			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr10:101841262C>T	uc001kql.2	-	0	381	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K		NM_001308	NP_001299	P15169	CBPN_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 1 (CPN1), mRNA.	41	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CCGGGGCATTCGTTTTGCACC	0.597													4	87					0	0	1	0	0	T	101841262	C	T	101841262	3	4	206	1	0	0	0	0	1	0	0	0	3809	893	31	2	1291	2	CPN1	10	101841262	Missense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08		101841262	33693485	20	8892											
NTF3	4908	broad.mit.edu	37	chr12	5603797	5603797	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatcacggcggaaacggtaCgcggagcataagagtcaccg	13	4	13	11	6	2	1	2	0	0	1	2	3	2	3	1	4	3	2	1	4	3	2			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr12:5603797C>T	uc001qnl.4	+	0	500	c.417C>T	c.(415-417)taC>taT	p.Y139Y	NTF3_uc001qnk.4_Silent_p.Y152Y	NM_002527	NP_002518	P20783	NTF3_HUMAN	Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA.	139					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding	p.R138W(1)|p.R138Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						GGAAACGGTACGCGGAGCATA	0.602													35	106					0	0	1	0	0	T	5603797	C	T	5603797	2	4	206	1	0	0	0	0	0	0	0	1	10696	547	19	1		1	NTF3	12	5603797	Silent	SNP	C	TCGA-HT-7854-01A-11D-2253-08		5603797	128248098	21	8893											
ATN1	1822	broad.mit.edu	37	chr12	7050146	7050146	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctaaccccctgcttcctcaCcctctgcacgagaacgaagt	9	8	6	18	2	2	1	1	0	1	1	3	3	3	1	5	0	4	2	5	0	3	2			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr12:7050146C>T	uc001qrw.1	+	7	3555	c.3318C>T	c.(3316-3318)caC>caT	p.H1106H	ATN1_uc001qrx.1_Silent_p.H1106H|C12orf57_uc009zfj.1_5'Flank	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	1106					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TGCTTCCTCACCCTCTGCACG	0.567													16	51					0	0	1	0	0	T	7050146	C	T	7050146	2	4	206	1	0	0	0	0	0	0	0	1	1111	506	18	3		3	ATN1	12	7050146	Silent	SNP	C	TCGA-HT-7854-01A-11D-2253-08	1446349	7050146	126801749	22	8894											
TMTC2	160335	broad.mit.edu	37	chr12	83379779	83379779	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcactgagatccaagactgAccacatccctgctcatctca	12	9	5	15	0	3	3	3	2	1	2	6	4	5	3	3	0	1	1	3	0	1	0			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr12:83379779A>G	uc001szt.3	+	7	2456	c.2024A>G	c.(2023-2025)gAc>gGc	p.D675G	TMTC2_uc001szs.1_Missense_Mutation_p.D675G|TMTC2_uc010suk.2_Missense_Mutation_p.D430G	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.	675						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TCCAAGACTGACCACATCCCT	0.458													31	65					0	0	1	0	0	G	83379779	A	G	83379779	3	3	206	1	0	0	0	0	1	0	0	0	16258	275	10	3	2054	3	TMTC2	12	83379779	Missense_Mutation	SNP	A	TCGA-HT-7854-01A-11D-2253-08	76329633	83379779	50472116	23	8895											
PTPN11	5781	broad.mit.edu	37	chr12	112915523	112915523	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcagattacatcaatgcaAatatcatcatggtaagcttt	14	15	5	7	0	4	1	4	0	0	1	4	1	4	1	0	1	3	3	0	1	5	5	rs28933386		TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr12:112915523A>G	uc001ttx.3	+	7	1302	c.922A>G	c.(922-924)Aat>Gat	p.N308D	PTPN11_uc001ttw.1_Missense_Mutation_p.N308D	NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	308	Tyrosine-protein phosphatase.		N -> D (in NS1; common mutation).|N -> S (in NS1; some patients also manifest giant cell lesions of bone and soft tissue).		T cell costimulation|axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.N308D(2)|p.N308S(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CATCAATGCAAATATCATCAT	0.378			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome				12	37					0	0	1	0	0	G	112915523	A	G	112915523	3	3	206	1	0	0	0	0	1	0	0	0	12780	14	1	3	952	3	PTPN11	12	112915523	Missense_Mutation	SNP	A	TCGA-HT-7854-01A-11D-2253-08	29535744	112915523	20936372	24	8896											
NCOR2	9612	broad.mit.edu	37	chr12	124817682	124817683	+	Frame_Shift_Ins	INS	-	-	C																															cccacagaagtacctgggctINSccgtctgttccccatcccgg																										TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr12:124817682_124817683insC	uc021rga.1	-	41	6886_6887	c.6769_6770insG	c.(6769-6771)gagfs	p.E2257fs	NCOR2_uc021rgb.1_Frame_Shift_Ins_p.E2241fs|NCOR2_uc010tbb.2_Frame_Shift_Ins_p.E2250fs|NCOR2_uc010tbc.2_Frame_Shift_Ins_p.E2240fs|NCOR2_uc021rgc.1_Frame_Shift_Ins_p.E2240fs|NCOR2_uc010tax.2_Frame_Shift_Ins_p.E371fs	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	2261					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTACCTGGGCTCCGTCTGTTCC	0.644													32	86	---	---	---	---						C	124817683	-	C	124817682	7	5	206	1	0	1	1	0	0	0	0	0	10236	1551	54	0	819	0	NCOR2	12	124817682	Frame_Shift_Ins	INS	-	TCGA-HT-7854-01A-11D-2253-08	11902159	124817682	9034213	25	8897											
IL16	3603	broad.mit.edu	37	chr15	81571959	81571959	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgacggcgcctccttccCtgtgcagccacctgtctccc	3	9	9	20	2	1	1	0	1	1	0	4	1	3	1	7	1	2	1	7	1	0	1			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr15:81571959C>T	uc021ssh.1	+	6	1026	c.925C>T	c.(925-927)Ctg>Ttg	p.L309L	IL16_uc002bgc.2_Non-coding_Transcript|IL16_uc010blq.1_Silent_p.L309L|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Silent_p.L351L|IL16_uc021ssg.1_Silent_p.L309L|IL16_uc002bgg.3_Silent_p.L309L|IL16_uc002bgi.1_5'UTR	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	309	Interaction with GRIN2A.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GCCTCCTTCCCTGTGCAGCCA	0.612													17	23					0	0	1	0	0	T	81571959	C	T	81571959	2	4	206	1	0	0	0	0	0	0	0	1	7633	680	24	3		3	IL16	15	81571959	Silent	SNP	C	TCGA-HT-7854-01A-11D-2253-08		81571959	20959433	26	8898											
MAPK3	5595	broad.mit.edu	37	chr16	30134372	30134372	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccctcacctgaccatgccGtacgcgccctcgccgatgta	6	7	8	20	5	1	1	1	1	0	0	2	2	1	1	7	0	2	2	7	0	2	2			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr16:30134372G>A	uc002dws.3	-	0	259	c.159C>T	c.(157-159)taC>taT	p.Y53Y	BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.3_5'Flank|MAPK3_uc002dwv.4_Silent_p.Y53Y|MAPK3_uc002dwt.3_Silent_p.Y53Y	NM_002746	NP_002737	P27361	MK03_HUMAN	Homo sapiens mitogen-activated protein kinase 3 (MAPK3), transcript variant 1, mRNA.	53	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	TGACCATGCCGTACGCGCCCT	0.726													3	50					0	0	1	0	0	A	30134372	G	A	30134372	2	1	206	1	0	0	0	0	0	0	0	1	9279	1140	40	1		1	MAPK3	16	30134372	Silent	SNP	G	TCGA-HT-7854-01A-11D-2253-08		30134372	60220381	27	8899											
KRT20	54474	broad.mit.edu	37	chr17	39041184	39041184	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagggtccgcaccttttctAggtagctcgctagacggtca	7	10	11	13	3	2	1	1	0	1	1	4	1	3	1	3	3	1	4	3	3	3	5			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr17:39041184A>T	uc002hvl.3	-	0	312	c.254T>A	c.(253-255)cTa>cAa	p.L85Q		NM_019010	NP_061883	P35900	K1C20_HUMAN	Homo sapiens keratin 20 (KRT20), mRNA.	85	Coil 1A.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				CACCTTTTCTAGGTAGCTCGC	0.542													6	53					0	0	1	0	0	T	39041184	A	T	39041184	3	4	206	1	0	0	0	0	1	0	0	0	8458	420	15	5	1052	5	KRT20	17	39041184	Missense_Mutation	SNP	A	TCGA-HT-7854-01A-11D-2253-08		39041184	42154026	28	8900											
KCNH6	81033	broad.mit.edu	37	chr17	61621618	61621618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccctcctgcagatgcagccCctcccctgagcatctcagat	7	9	7	18	0	1	3	1	1	1	2	5	3	4	3	6	0	4	3	6	0	0	0			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr17:61621618C>T	uc002jay.3	+	11	2430	c.2350C>T	c.(2350-2352)Cct>Tct	p.P784S	KCNH6_uc010wpl.2_Missense_Mutation_p.P625S|KCNH6_uc010wpm.2_Missense_Mutation_p.P748S|KCNH6_uc002jaz.1_Missense_Mutation_p.P695S	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	784					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	AGATGCAGCCCCTCCCCTGAG	0.612													16	33					0	0	1	0	0	T	61621618	C	T	61621618	3	4	206	1	0	0	0	0	1	0	0	0	8036	623	22	3	2396	3	KCNH6	17	61621618	Missense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08	22580434	61621618	19573592	29	8901											
CD300A	11314	broad.mit.edu	37	chr17	72473594	72473594	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcccgctgctcctctccCtgctggcattgttgctgctt	1	14	10	16	1	1	0	0	0	1	0	4	0	3	0	3	2	4	8	3	2	0	3			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr17:72473594C>T	uc002jkv.3	+	3	874	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L	CD300A_uc002jkw.3_Silent_p.L72L|CD300A_uc010dfr.3_Silent_p.L72L|CD300A_uc010dfs.3_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	185					cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GCTCCTCTCCCTGCTGGCATT	0.512													17	67					0	0	1	0	0	T	72473594	C	T	72473594	2	4	206	1	0	0	0	0	0	0	0	1	2996	680	24	3		3	CD300A	17	72473594	Silent	SNP	C	TCGA-HT-7854-01A-11D-2253-08	10851976	72473594	8721616	30	8902											
MAPK4	5596	broad.mit.edu	37	chr18	48190668	48190668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatggagaccgacctggcaCgcctgctggagcagggcacg	9	4	15	13	3	0	1	0	0	0	1	0	4	0	2	3	4	2	4	3	4	0	0			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr18:48190668C>T	uc002lev.3	+	1	1340	c.340C>T	c.(340-342)Cgc>Tgc	p.R114C	MAPK4_uc010xdm.2_Intron|MAPK4_uc010doz.3_Missense_Mutation_p.R114C	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	114	Protein kinase.				cell cycle		ATP binding|MAP kinase activity	p.R114C(2)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CGACCTGGCACGCCTGCTGGA	0.612													10	69					0	0	1	0	0	T	48190668	C	T	48190668	3	4	206	1	0	0	0	0	1	0	0	0	9280	536	19	1	342	1	MAPK4	18	48190668	Missense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08		48190668	29886580	31	8903											
ABCA7	10347	broad.mit.edu	37	chr19	1056395	1056395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgagccagcaacgcaatcCtccgtgctcacctgccccca	9	5	7	20	3	1	0	1	0	0	0	3	1	3	0	7	0	5	3	7	0	2	0			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr19:1056395C>T	uc002lqw.4	+	32	4714	c.4483C>T	c.(4483-4485)Ctc>Ttc	p.L1495F	ABCA7_uc002lqy.3_5'Flank|ABCA7_uc010dsc.3_5'Flank	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	1495					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		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)		CAACGCAATCCTCCGTGCTCA	0.612													23	66					0	0	1	0	0	T	1056395	C	T	1056395	3	4	206	1	0	0	0	0	1	0	0	0	37	681	24	3	4609	3	ABCA7	19	1056395	Missense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08		1056395	58072588	32	8904											
FCHO1	23149	broad.mit.edu	37	chr19	17895689	17895689	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccagatcctgctgcctgtGggggagcctgtgaccaacgt	6	9	14	12	1	0	2	0	1	0	1	2	3	2	3	5	2	4	1	5	2	1	0			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr19:17895689G>A	uc002nhg.3	+	25	2661	c.2382G>A	c.(2380-2382)gtG>gtA	p.V794V	FCHO1_uc010ebb.2_Silent_p.V794V|FCHO1_uc002nhh.2_Silent_p.V794V|FCHO1_uc010xpw.1_Silent_p.V744V	NM_001161357	NP_001154829	O14526	FCHO1_HUMAN	Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA.	794										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TGCTGCCTGTGGGGGAGCCTG	0.652											OREG0025350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	118					0	0	1	0	0	A	17895689	G	A	17895689	2	1	206	1	0	0	0	0	0	0	0	1	5787	1335	47	3		3	FCHO1	19	17895689	Silent	SNP	G	TCGA-HT-7854-01A-11D-2253-08	16839294	17895689	41233294	33	8905											
MYH14	79784	broad.mit.edu	37	chr19	50812434	50812434	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacactgaggaaccggcttcGgtatggtcatcccacgtaca	10	8	10	13	3	1	1	1	1	0	0	3	2	2	2	2	4	2	3	2	4	3	3			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr19:50812434G>T	uc010enu.1	+	42	6007	c.5960_splice	c.e42+1	p.R1987_splice	MYH14_uc002prq.1_Splice_Site_p.R1954_splice|MYH14_uc002prr.1_Splice_Site_p.R1946_splice|MYH14_uc010ycb.2_Splice_Site_p.R297_splice|MYH14_uc002prs.1_Splice_Site_p.R297_splice	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1946					axon guidance|regulation of cell shape	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AACCGGCTTCGGTATGGTCAT	0.632													7	133					7.48243e-07	8.19504e-07	1	1	0	T	50812434	G	T	50812434	5	4	206	1	0	0	0	0	0	0	1	0	10033	1130	39	5	6122	5	MYH14	19	50812434	Splice_Site	SNP	G	TCGA-HT-7854-01A-11D-2253-08	32916745	50812434	8316549	34	8906											
C20orf26	26074	broad.mit.edu	37	chr20	20271009	20271009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgccattccaactcccttgGaggtacaaatggcacagcct	10	9	8	14	0	0	0	0	0	0	0	2	1	2	1	4	3	4	2	4	3	3	3			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr20:20271009G>A	uc002wru.3	+	23	3304	c.3190G>A	c.(3190-3192)Gag>Aag	p.E1064K	C20orf26_uc002wrw.3_Non-coding_Transcript	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	1064										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AACTCCCTTGGAGGTACAAAT	0.348													14	40					0	0	1	0	0	A	20271009	G	A	20271009	3	1	206	1	0	0	0	0	1	0	0	0	2106	1175	41	3	3312	3	C20orf26	20	20271009	Missense_Mutation	SNP	G	TCGA-HT-7854-01A-11D-2253-08		20271009	42754511	35	8907											
ACOT8	10005	broad.mit.edu	37	chr20	44472287	44472287	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgccactggtgaggcagCagtgcagtgcccaagaaggc	9	6	15	11	0	0	2	0	1	0	1	0	2	0	2	2	3	5	4	2	3	2	0			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr20:44472287C>G	uc002xqa.2	-	4	814	c.720G>C	c.(718-720)ctG>ctC	p.L240L	ACOT8_uc010zxe.2_3'UTR|ACOT8_uc002xqc.2_3'UTR|ACOT8_uc010zxf.2_Silent_p.L120L	NM_005469	NP_005460	O14734	ACOT8_HUMAN	Homo sapiens acyl-CoA thioesterase 8 (ACOT8), mRNA.	240					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				GGTGAGGCAGCAGTGCAGTGC	0.597													15	46					0	0	1	0	0	G	44472287	C	G	44472287	2	3	206	1	0	0	0	0	0	0	0	1	156	697	25	5		5	ACOT8	20	44472287	Silent	SNP	C	TCGA-HT-7854-01A-11D-2253-08	24201278	44472287	18553233	36	8908											
ITSN1	6453	broad.mit.edu	37	chr21	35094910	35094910	+	Frame_Shift_Del	DEL	T	T	-																															caggtgatcaagctagaaacTttttttttcaatctgggtta																										TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr21:35094910delT	uc002yta.1	+	3	407	c.139delT	c.(139-141)tttfs	p.F47fs	DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_5'UTR|ITSN1_uc002ysy.3_Frame_Shift_Del_p.F47fs|ITSN1_uc002ysx.3_Frame_Shift_Del_p.F47fs|ITSN1_uc002yth.4_Non-coding_Transcript|ITSN1_uc002ysz.3_Frame_Shift_Del_p.F47fs|ITSN1_uc010gmg.3_Frame_Shift_Del_p.F47fs|ITSN1_uc010gmh.3_Non-coding_Transcript|ITSN1_uc002ysw.3_Frame_Shift_Del_p.F47fs|ITSN1_uc010gmi.3_Frame_Shift_Del_p.F47fs|ITSN1_uc002ytb.1_Frame_Shift_Del_p.F47fs|ITSN1_uc002ytc.1_Frame_Shift_Del_p.F47fs|ITSN1_uc010gmk.3_Frame_Shift_Del_p.F47fs|ITSN1_uc010gml.3_Non-coding_Transcript|ITSN1_uc002ytd.3_Non-coding_Transcript|ITSN1_uc002ytj.2_Frame_Shift_Del_p.F47fs|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002yte.3_5'UTR	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	47	EH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGCTAGAAACTTTTTTTTTCA	0.279													3	3	---	---	---	---						-	35094910	T	-	35094910	7	5	206	1	0	1	0	1	0	0	0	0	7926	1609	56	0	149	0	ITSN1	21	35094910	Frame_Shift_Del	DEL	T	TCGA-HT-7854-01A-11D-2253-08		35094910	13034985	37	8909											
KRTAP10-6	386674	broad.mit.edu	37	chr21	46011553	46011553	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccagagcagacgggcacAcagcaggcgtgctggcaggg	9	2	17	13	2	0	2	0	0	0	2	0	2	0	2	2	4	3	5	2	4	0	0			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr21:46011553A>G	uc002zfm.3	-	0	834	c.813T>C	c.(811-813)tgT>tgC	p.C271C	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198688	NP_941961	P60371	KR106_HUMAN	Homo sapiens keratin associated protein 10-6 (KRTAP10-6), mRNA.	271	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						AGACGGGCACACAGCAGGCGT	0.647													6	269					0	0	1	0	0	G	46011553	A	G	46011553	2	3	206	1	0	0	0	0	0	0	0	1	8513	157	6	3		3	KRTAP10-6	21	46011553	Silent	SNP	A	TCGA-HT-7854-01A-11D-2253-08	10916643	46011553	2118342	38	8910											
TUBGCP6	85378	broad.mit.edu	37	chr22	50659212	50659212	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaagctgatgctggcatcAgacacgtgtccatgggtgtt	8	10	12	11	1	1	2	1	1	0	1	2	2	2	2	2	2	2	4	2	2	1	1	rs141527317		TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr22:50659212A>G	uc003bkb.1	-	15	4088	c.3576T>C	c.(3574-3576)tcT>tcC	p.S1192S	TUBGCP6_uc003bka.1_Silent_p.S279S|TUBGCP6_uc010har.1_Silent_p.S1184S|TUBGCP6_uc010has.1_Non-coding_Transcript	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	1192	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCTGGCATCAGACACGTGTC	0.617													5	91					0	0	1	0	0	G	50659212	A	G	50659212	2	3	206	1	0	0	0	0	0	0	0	1	16767	175	7	4		4	TUBGCP6	22	50659212	Silent	SNP	A	TCGA-HT-7854-01A-11D-2253-08		50659212	645354	39	8911											
TAF1	6872	broad.mit.edu	37	chrX	70621406	70621406	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggggcatgtggtgccattgGacacatgaggactaacaaat	12	9	13	7	0	0	1	0	1	0	0	0	3	0	3	1	5	2	1	1	5	2	2			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chrX:70621406G>T	uc004dzu.4	+	24	3863	c.3812G>T	c.(3811-3813)gGa>gTa	p.G1271V	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.G1292V|TAF1_uc004dzv.4_Missense_Mutation_p.G445V	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	1271					G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GGTGCCATTGGACACATGAGG	0.458													14	14					1.3612e-06	1.45617e-06	1	1	0	T	70621406	G	T	70621406	3	4	206	1	0	0	0	0	1	0	0	0	15510	1174	41	5	3973	5	TAF1	23	70621406	Missense_Mutation	SNP	G	TCGA-HT-7854-01A-11D-2253-08		70621406	84649154	40	8912											
TCEB3	6924	broad.mit.edu	37	chr1	24077560	24077561	+	Frame_Shift_Del	DEL	AA	AA	-																															catgagaggagagatgagagAaagaggtgtcacagaatgtc																										TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:24077560_24077561delAA	uc001bho.3	+	3	603_604	c.543_544delAA	c.(541-546)agaaagfs	p.R181fs		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	Homo sapiens transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) (TCEB3), mRNA.	181					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GAGATGAGAGAAAGAGGTGTCA	0.48													50	121	---	---	---	---						-	24077561	AA	-	24077560	7	5	207	1	0	1	0	1	0	0	0	0	15678	243	9	0	557	0	TCEB3	1	24077560	Frame_Shift_Del	DEL	AA	TCGA-HT-7855-01A-11D-2395-08		24077560	225173061	1	8913											
GBP2	2634	broad.mit.edu	37	chr1	89578261	89578263	+	In_Frame_Del	DEL	TCT	TCT	-																															aaaatgttccctgcttgacaTcttcttctaaagggccaaat																								rs142287187		TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:89578261_89578263delTCT	uc001dmz.1	-	7	1525_1527	c.1254_1256delAGA	c.(1252-1257)gaagat>gat	p.E418del	GBP2_uc001dmy.1_Non-coding_Transcript	NM_004120	NP_004111	P32456	GBP2_HUMAN	Homo sapiens guanylate binding protein 2, interferon-inducible (GBP2), mRNA.	418					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	p.E418delE(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CTGCTTGACATCTTCTTCTAAAG	0.438													40	192	---	---	---	---						-	89578263	TCT	-	89578261	7	5	207	1	0	1	0	1	0	0	0	0	6274	1435	50	0	535	0	GBP2	1	89578261	In_Frame_Del	DEL	TCT	TCGA-HT-7855-01A-11D-2395-08	65500701	89578261	159672360	2	8914											
GBP7	388646	broad.mit.edu	37	chr1	89615082	89615083	+	Frame_Shift_Del	DEL	GT	GT	-																															cacgtccagcagctcctggaGtgtgtctgtggggaatctca																										TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:89615082_89615083delGT	uc001dna.2	-	6	1183_1184	c.1044_1045delAC	c.(1042-1047)acactcfs	p.T348fs	GBP2_uc001dmy.1_Non-coding_Transcript	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	Homo sapiens guanylate binding protein 7 (GBP7), mRNA.	348						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		AGCTCCTGGAGTGTGTCTGTGG	0.535													11	147	---	---	---	---						-	89615083	GT	-	89615082	7	5	207	1	0	1	0	1	0	0	0	0	6279	1029	36	0	891	0	GBP7	1	89615082	Frame_Shift_Del	DEL	GT	TCGA-HT-7855-01A-11D-2395-08	36821	89615082	159635539	3	8915											
FLG	2312	broad.mit.edu	37	chr1	152284999	152284999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaggaaagaccctgaacgtCgagacctttcccctgaccgg	11	6	11	13	3	0	5	0	2	0	3	2	7	1	6	5	2	1	0	5	2	2	1	rs142483068	byFrequency	TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:152284999C>T	uc001ezu.1	-	2	2399	c.2363G>A	c.(2362-2364)cGa>cAa	p.R788Q	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	788	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTGAACGTCGAGACCTTTC	0.567									Ichthyosis				147	385					0	0	1	0	0	T	152284999	C	T	152284999	3	4	207	1	0	0	0	0	1	0	0	0	5922	884	31	2	9826	2	FLG	1	152284999	Missense_Mutation	SNP	C	TCGA-HT-7855-01A-11D-2395-08	62669917	152284999	96965622	4	8916											
ARHGEF2	9181	broad.mit.edu	37	chr1	155931587	155931587	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtccatgcggttgtagaTctcctgcagacgggcccctt	6	10	13	12	2	1	2	0	0	1	2	3	2	2	2	4	3	2	3	4	3	1	3			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:155931587T>C	uc001fmu.2	-	14	1720	c.1465A>G	c.(1465-1467)Atc>Gtc	p.I489V	ARHGEF2_uc001fmr.2_Missense_Mutation_p.I417V|ARHGEF2_uc001fms.2_Missense_Mutation_p.I444V|ARHGEF2_uc001fmt.2_Missense_Mutation_p.I445V|ARHGEF2_uc010pgt.1_Missense_Mutation_p.I418V|ARHGEF2_uc010pgu.1_Missense_Mutation_p.I490V	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.	445	PH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CGGTTGTAGATCTCCTGCAGA	0.607													43	48					0	0	1	0	0	C	155931587	T	C	155931587	3	2	207	1	0	0	0	0	1	0	0	0	903	1435	50	3	1675	3	ARHGEF2	1	155931587	Missense_Mutation	SNP	T	TCGA-HT-7855-01A-11D-2395-08	3646588	155931587	93319034	5	8917											
IFI16	3428	broad.mit.edu	37	chr1	158988254	158988254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagaaaatcatcatcatatCagattatttggaatatgata	19	13	5	4	0	4	3	4	1	0	2	4	4	4	4	0	1	0	0	0	1	8	5			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:158988254C>T	uc001ftg.3	+	4	1075	c.785C>T	c.(784-786)tCa>tTa	p.S262L	IFI16_uc010pis.2_Missense_Mutation_p.S206L|IFI16_uc010pit.2_Missense_Mutation_p.S262L|IFI16_uc001ftf.1_Missense_Mutation_p.S262L	NM_005531	NP_005522	Q16666	IF16_HUMAN	Homo sapiens interferon, gamma-inducible protein 16 (IFI16), transcript variant 2, mRNA.	262	HIN-200 1.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|cell proliferation|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					ATCATCATATCAGATTATTTG	0.368													10	65					0	0	1	0	0	T	158988254	C	T	158988254	3	4	207	1	0	0	0	0	1	0	0	0	7511	838	29	3	799	3	IFI16	1	158988254	Missense_Mutation	SNP	C	TCGA-HT-7855-01A-11D-2395-08	3056667	158988254	90262367	6	8918											
IPO9	55705	broad.mit.edu	37	chr1	201817721	201817721	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccatgcgtgtgctgacAggtaccagaagcccttttcc	8	9	12	12	1	0	2	0	1	0	1	1	3	1	3	4	2	5	2	4	2	2	3			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:201817721A>G	uc001gwz.3	+	4	564	c.514_splice	c.e4+1	p.E172_splice		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	Homo sapiens importin 9 (IPO9), mRNA.	172					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						GTGTGCTGACAGGTACCAGAA	0.512													19	25					0	0	1	0	0	G	201817721	A	G	201817721	5	3	207	1	0	0	0	0	0	0	1	0	7799	202	7	4	527	4	IPO9	1	201817721	Splice_Site	SNP	A	TCGA-HT-7855-01A-11D-2395-08	42829467	201817721	47432900	7	8919											
IL18R1	8809	broad.mit.edu	37	chr2	102984511	102984511	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagttgaatgacacaggatcTtactttttccaaatgaagtg	13	13	9	6	0	1	3	0	3	1	0	2	5	2	4	1	1	1	1	1	1	4	4			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr2:102984511T>A	uc002tbw.4	+	2	435	c.285T>A	c.(283-285)tcT>tcA	p.S95S	IL18R1_uc010ywb.1_Silent_p.S95S|IL18R1_uc010ywd.2_Intron|IL18R1_uc010fiy.3_Silent_p.S95S|IL18R1_uc010ywc.2_Silent_p.S95S	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	95	Ig-like C2-type 1.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						ACACAGGATCTTACTTTTTCC	0.403													12	128					0	0	1	0	0	A	102984511	T	A	102984511	2	1	207	1	0	0	0	0	0	0	0	1	7647	1596	56	5		5	IL18R1	2	102984511	Silent	SNP	T	TCGA-HT-7855-01A-11D-2395-08		102984511	140214862	8	8920											
UXS1	80146	broad.mit.edu	37	chr2	106710502	106710505	+	Frame_Shift_Del	DEL	CTTT	CTTT	-																															tcagctgtggcgagtccgtcCtttctttattctggcaggct																										TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr2:106710502_106710505delCTTT	uc002tdm.3	-	14	1338_1341	c.1240_1243delAAAG	c.(1240-1245)aaaggafs	p.K414fs	UXS1_uc002tdk.3_Frame_Shift_Del_p.K212fs|UXS1_uc002tdl.3_Frame_Shift_Del_p.K246fs|UXS1_uc002tdn.3_Frame_Shift_Del_p.K419fs|UXS1_uc002tdo.3_Frame_Shift_Del_p.K357fs	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN	Homo sapiens UDP-glucuronate decarboxylase 1 (UXS1), transcript variant 2, mRNA.	414					cellular metabolic process	Golgi cisterna membrane|integral to membrane	UDP-glucuronate decarboxylase activity|coenzyme binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						CGAGTCCGTCCTTTCTTTATTCTG	0.412													35	32	---	---	---	---						-	106710505	CTTT	-	106710502	7	5	207	1	0	1	0	1	0	0	0	0	17106	690	24	0	23	0	UXS1	2	106710502	Frame_Shift_Del	DEL	CTTT	TCGA-HT-7855-01A-11D-2395-08	3725991	106710502	136488871	9	8921											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr2:209113113G>A	uc002vcs.3	-	3	640	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_uc002vct.3_Missense_Mutation_p.R132C|IDH1_uc002vcu.3_Missense_Mutation_p.R132C	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								40	47					0	0	1	0	0	A	209113113	G	A	209113113	3	1	207	1	0	0	0	0	1	0	0	0	7494	1058	37	2	878	2	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-7855-01A-11D-2395-08	102402611	209113113	34086260	10	8922											
ABCA12	26154	broad.mit.edu	37	chr2	215843555	215843555	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggtggtatctgaaatgccGtagcacccgatgttgaggtc	9	10	13	9	3	1	2	0	2	1	0	2	3	1	2	2	3	2	4	2	3	3	3			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr2:215843555G>A	uc002vew.3	-	31	5170	c.4950C>T	c.(4948-4950)taC>taT	p.Y1650Y	ABCA12_uc002vev.3_Silent_p.Y1332Y|ABCA12_uc010zjn.2_Silent_p.Y577Y	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1650					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTGAAATGCCGTAGCACCCGA	0.458													7	135					0	0	1	0	0	A	215843555	G	A	215843555	2	1	207	1	0	0	0	0	0	0	0	1	30	1140	40	1		1	ABCA12	2	215843555	Silent	SNP	G	TCGA-HT-7855-01A-11D-2395-08	6730442	215843555	27355818	11	8923											
SEC22A	26984	broad.mit.edu	37	chr3	122944084	122944085	+	Frame_Shift_Ins	INS	-	-	CCGATGGAGT																															catgtgcgaactggggtcagINSccaatggagtcacatcagca																										TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr3:122944084_122944085insCCGATGGAGT	uc003ege.3	+	3	560_561	c.481_482insCCGATGGAGT	c.(481-483)gccfs	p.A161fs	SEC22A_uc003egf.3_Frame_Shift_Ins_p.A161fs	NM_012430	NP_036562	Q96IW7	SC22A_HUMAN	Homo sapiens SEC22 vesicle trafficking protein homolog A (S. cerevisiae) (SEC22A), mRNA.	161					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		ACTGGGGTCAGCCAATGGAGTC	0.396													18	164	---	---	---	---						CCGATGGAGT	122944085	-	CCGATGGAGT	122944084	7	5	207	1	0	1	1	0	0	0	0	0	13988	971	34	0	491	0	SEC22A	3	122944084	Frame_Shift_Ins	INS	-	TCGA-HT-7855-01A-11D-2395-08		122944084	75078346	12	8924											
ZXDC	79364	broad.mit.edu	37	chr3	126191130	126191133	+	Frame_Shift_Del	DEL	ATAA	ATAA	-																															aaaacagggcactcactgtgAtaaatgtcttctcacagcct																										TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr3:126191130_126191133delATAA	uc003eiv.3	-	1	977_980	c.923_926delTTAT	c.(922-927)tttatcfs	p.F308fs	ZXDC_uc010hsh.3_Non-coding_Transcript|ZXDC_uc003eix.2_Frame_Shift_Del_p.F308fs	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	Homo sapiens ZXD family zinc finger C (ZXDC), transcript variant 1, mRNA.	308					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|LRR domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		ACTCACTGTGATAAATGTCTTCTC	0.475													44	77	---	---	---	---						-	126191133	ATAA	-	126191130	7	5	207	1	0	1	0	1	0	0	0	0	18249	333	12	0	1692	0	ZXDC	3	126191130	Frame_Shift_Del	DEL	ATAA	TCGA-HT-7855-01A-11D-2395-08	3247046	126191130	71831300	13	8925											
SLCO2A1	6578	broad.mit.edu	37	chr3	133654661	133654661	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtaggcgcaggcccctcGcctccccaagcacagcgagt	9	5	11	16	3	0	0	0	0	0	0	2	1	1	0	5	2	2	3	5	2	3	2			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr3:133654661G>A	uc003eqa.4	-	12	2045	c.1771C>T	c.(1771-1773)Cga>Tga	p.R591*		NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	591					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						CAGGCCCCTCGCCTCCCCAAG	0.602													4	28					0	0	1	0	0	A	133654661	G	A	133654661	4	1	207	1	0	0	0	0	0	1	0	0	14726	1095	38	1	168	1	SLCO2A1	3	133654661	Nonsense_Mutation	SNP	G	TCGA-HT-7855-01A-11D-2395-08	7463531	133654661	64367769	14	8926											
ATP13A5	344905	broad.mit.edu	37	chr3	193081122	193081122	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttacaggaaacttcagtgtgGataagtagaggcagaatacc	15	9	11	6	0	1	2	1	0	0	2	1	4	1	4	1	3	3	2	1	3	6	5	rs12637558	byFrequency	TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr3:193081122G>T	uc011bsq.2	-	2	287	c.287C>A	c.(286-288)tCc>tAc	p.S96Y		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	96			S -> Y (in dbSNP:rs12637558).		ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.S96F(2)|p.S96Y(2)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CTTCAGTGTGGATAAGTAGAG	0.398													5	60					0.014758	0.0150313	1	1	0	T	193081122	G	T	193081122	3	4	207	1	0	0	0	0	1	0	0	0	1127	1174	41	5	3479	5	ATP13A5	3	193081122	Missense_Mutation	SNP	G	TCGA-HT-7855-01A-11D-2395-08	59426461	193081122	4941308	15	8927											
RHOH	399	broad.mit.edu	37	chr4	40245505	40245505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggtgtttgagtgcgccGtccgaactgccgtcaaccag	8	8	13	12	4	1	1	1	1	0	0	2	2	2	1	4	1	5	2	4	1	2	1			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr4:40245505G>A	uc003guz.2	+	2	1223	c.499G>A	c.(499-501)Gtc>Atc	p.V167I	RHOH_uc021xnp.1_Missense_Mutation_p.V167I	NM_004310	NP_004301	Q15669	RHOH_HUMAN	Homo sapiens ras homolog gene family, member H (RHOH), mRNA.	167					T cell differentiation|negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|Rho GTPase binding|kinase inhibitor activity			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						TGAGTGCGCCGTCCGAACTGC	0.542													34	26					0	0	1	0	0	A	40245505	G	A	40245505	3	1	207	1	0	0	0	0	1	0	0	0	13340	1145	40	1	501	1	RHOH	4	40245505	Missense_Mutation	SNP	G	TCGA-HT-7855-01A-11D-2395-08		40245505	150908771	16	8928											
YTHDC1	91746	broad.mit.edu	37	chr4	69203308	69203310	+	In_Frame_Del	DEL	AGG	AGG	-																															acctcagaaccatctggcgtAggagatttggccctcctttc																										TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr4:69203308_69203310delAGG	uc003hdx.3	-	2	792_794	c.439_441delCCT	c.(439-441)cctdel	p.P147del	YTHDC1_uc003hdy.3_In_Frame_Del_p.P147del	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA.	147										NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CATCTGGCGTAGGAGATTTGGCC	0.404													21	37	---	---	---	---						-	69203310	AGG	-	69203308	7	5	207	1	0	1	0	1	0	0	0	0	17493	407	15	0	1802	0	YTHDC1	4	69203308	In_Frame_Del	DEL	AGG	TCGA-HT-7855-01A-11D-2395-08	28957803	69203308	121950968	17	8929											
ANK2	287	broad.mit.edu	37	chr4	114277079	114277080	+	Frame_Shift_Del	DEL	CT	CT	-																															ttagcagtgagccacaaagaCtctctggaagccagccctgt																										TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr4:114277079_114277080delCT	uc003ibe.4	+	37	7405_7406	c.7305_7306delCT	c.(7303-7308)gactctfs	p.D2435fs	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Frame_Shift_Del_p.D2450fs	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2402					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCCACAAAGACTCTCTGGAAGC	0.51													45	66	---	---	---	---						-	114277080	CT	-	114277079	7	5	207	1	0	1	0	1	0	0	0	0	621	564	20	0	7520	0	ANK2	4	114277079	Frame_Shift_Del	DEL	CT	TCGA-HT-7855-01A-11D-2395-08	45073771	114277079	76877197	18	8930											
SLC6A3	6531	broad.mit.edu	37	chr5	1422122	1422122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctggtggaggtgcagcaCgccacgtctgcagaggggag	7	6	18	10	2	2	1	0	0	2	1	2	3	2	3	1	5	3	4	1	5	0	0	rs138948519		TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr5:1422122C>T	uc003jck.3	-	4	787	c.661G>A	c.(661-663)Gtg>Atg	p.V221M		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	221					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		p.V221M(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AGGTGCAGCACGCCACGTCTG	0.662													7	86					0	0	1	0	0	T	1422122	C	T	1422122	3	4	207	1	0	0	0	0	1	0	0	0	14685	536	19	1	1245	1	SLC6A3	5	1422122	Missense_Mutation	SNP	C	TCGA-HT-7855-01A-11D-2395-08		1422122	179493138	19	8931											
C5orf34	375444	broad.mit.edu	37	chr5	43488036	43488036	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacttctgtatcttttcaagTtcagaagcaacagacctgtc	12	13	6	10	0	4	2	2	0	2	2	5	2	4	2	1	0	3	3	1	0	5	5			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr5:43488036T>C	uc003jnz.2	-	11	2097	c.1695A>G	c.(1693-1695)gaA>gaG	p.E565E		NM_198566	NP_940968	Q96MH7	CE034_HUMAN	Homo sapiens chromosome 5 open reading frame 34 (C5orf34), mRNA.	565										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TCTTTTCAAGTTCAGAAGCAA	0.318													3	15					0	0	1	0	0	C	43488036	T	C	43488036	2	2	207	1	0	0	0	0	0	0	0	1	2293	1722	60	3		3	C5orf34	5	43488036	Silent	SNP	T	TCGA-HT-7855-01A-11D-2395-08	42065914	43488036	137427224	20	8932											
SLC12A2	6558	broad.mit.edu	37	chr5	127449952	127449952	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgcttttcattagattgTcatggattgtgggtcaagct	8	17	11	5	0	3	2	3	1	0	1	3	3	3	3	0	2	2	2	0	2	2	5			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr5:127449952T>C	uc003kus.3	+	2	1089	c.925T>C	c.(925-927)Tca>Cca	p.S309P	SLC12A2_uc010jdf.3_Non-coding_Transcript|SLC12A2_uc010jdg.3_Missense_Mutation_p.S309P	NM_001046	NP_001037	P55011	S12A2_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 2 (SLC12A2), transcript variant 1, mRNA.	309					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CATTAGATTGTCATGGATTGT	0.373													51	128					0	0	1	0	0	C	127449952	T	C	127449952	3	2	207	1	0	0	0	0	1	0	0	0	14383	1667	58	3	935	3	SLC12A2	5	127449952	Missense_Mutation	SNP	T	TCGA-HT-7855-01A-11D-2395-08	83961916	127449952	53465308	21	8933											
RELL2	285613	broad.mit.edu	37	chr5	141018562	141018564	+	In_Frame_Del	DEL	AGG	AGG	-																															gagatgctgggggacagtgaAggagaagggacagtgcagct																										TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr5:141018562_141018564delAGG	uc003lli.3	+	3	1139_1141	c.291_293delAGG	c.(289-294)gaagga>gaa	p.G98del	HDAC3_uc003llf.2_5'Flank|HDAC3_uc010jgd.1_5'Flank|HDAC3_uc010jge.1_5'Flank|RELL2_uc003llh.3_In_Frame_Del_p.G98del	NM_001130029	NP_776189	Q8NC24	RELL2_HUMAN	Homo sapiens RELT-like 2 (RELL2), transcript variant 2, mRNA.	98						integral to membrane|plasma membrane				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGACAGTGAAGGAGAAGGGACA	0.557													7	31	---	---	---	---						-	141018564	AGG	-	141018562	7	5	207	1	0	1	0	1	0	0	0	0	13219	69	3	0	301	0	RELL2	5	141018562	In_Frame_Del	DEL	AGG	TCGA-HT-7855-01A-11D-2395-08	13568610	141018562	39896698	22	8934											
GEMIN5	25929	broad.mit.edu	37	chr5	154315435	154315438	+	Frame_Shift_Del	DEL	AAGT	AAGT	-																															atcttcatgatgaggtgaacAagtaagacagaaaattgtcc																										TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr5:154315435_154315438delAAGT	uc003lvx.3	-	2	555_558	c.472_475delACTT	c.(472-477)acttgtfs	p.T158fs	GEMIN5_uc011ddk.1_Frame_Shift_Del_p.T158fs	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	158					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGAGGTGAACAAGTAAGACAGAAA	0.353													7	90	---	---	---	---						-	154315438	AAGT	-	154315435	7	5	207	1	0	1	0	1	0	0	0	0	6331	130	5	0	4155	0	GEMIN5	5	154315435	Frame_Shift_Del	DEL	AAGT	TCGA-HT-7855-01A-11D-2395-08	13296873	154315435	26599825	23	8935											
CCNJL	79616	broad.mit.edu	37	chr5	159707584	159707584	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagagctgcttggaggtggtGacgttgtagcgatccatgaa	9	11	15	6	2	0	3	0	2	0	1	1	5	1	4	1	3	3	4	1	3	3	4			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr5:159707584G>A	uc003lyb.1	-	2	480	c.228C>T	c.(226-228)gtC>gtT	p.V76V	CCNJL_uc011dee.1_Silent_p.V76V|CCNJL_uc003lyc.1_Non-coding_Transcript|CCNJL_uc011def.1_Silent_p.V76V	NM_024565	NP_078841	Q8IV13	CCNJL_HUMAN	Homo sapiens cyclin J-like (CCNJL), mRNA.	76	Cyclin N-terminal.					nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGAGGTGGTGACGTTGTAGC	0.622													5	99					0	0	1	0	0	A	159707584	G	A	159707584	2	1	207	1	0	0	0	0	0	0	0	1	2929	1277	45	3		3	CCNJL	5	159707584	Silent	SNP	G	TCGA-HT-7855-01A-11D-2395-08	5392149	159707584	21207676	24	8936											
BMP6	654	broad.mit.edu	37	chr6	7727731	7727731	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccccgggcgccgcgcacccGctcaaccgcaagagccttct	6	4	10	21	6	2	1	1	0	1	1	2	1	2	1	6	1	2	3	6	1	2	1			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr6:7727731G>A	uc003mxu.4	+	0	721	c.543G>A	c.(541-543)ccG>ccA	p.P181P		NM_001718	NP_001709	P22004	BMP6_HUMAN	Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.	181					BMP signaling pathway|SMAD protein signal transduction|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CCGCGCACCCGCTCAACCGCA	0.741													3	13					0	0	1	0	0	A	7727731	G	A	7727731	2	1	207	1	0	0	0	0	0	0	0	1	1464	1074	38	1		1	BMP6	6	7727731	Silent	SNP	G	TCGA-HT-7855-01A-11D-2395-08		7727731	163387336	25	8937											
ACAT2	39	broad.mit.edu	37	chr6	160199292	160199292	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgcaatagttaaagaaCttggattaaacccagagaag	16	9	9	7	0	0	2	0	0	0	2	0	4	0	3	1	1	4	3	1	1	8	4			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr6:160199292C>G	uc010kjy.3	+	7	1134	c.1003C>G	c.(1003-1005)Ctt>Gtt	p.L335V	ACAT2_uc011efw.2_Missense_Mutation_p.L364V	NM_005891	NP_005882	Q9BWD1	THIC_HUMAN	Homo sapiens acetyl-CoA acetyltransferase 2 (ACAT2), mRNA.	335						mitochondrion|nucleolus	acetyl-CoA C-acetyltransferase activity|protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AGTTAAAGAACTTGGATTAAA	0.388													13	21					0	0	1	0	0	G	160199292	C	G	160199292	3	3	207	1	0	0	0	0	1	0	0	0	122	565	20	5	1033	5	ACAT2	6	160199292	Missense_Mutation	SNP	C	TCGA-HT-7855-01A-11D-2395-08	152471561	160199292	10915775	26	8938											
STK31	56164	broad.mit.edu	37	chr7	23871943	23871943	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acggagaacttggataaatgTatggagaagacaagaaatgg	18	7	13	3	1	0	4	0	0	0	4	0	7	0	5	0	4	1	1	0	4	7	3			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr7:23871943T>A	uc003sws.4	+	23	3085	c.3018T>A	c.(3016-3018)tgT>tgA	p.C1006*	STK31_uc003swt.4_Nonsense_Mutation_p.C983*|STK31_uc011jze.2_Nonsense_Mutation_p.C983*|STK31_uc010kuq.3_Nonsense_Mutation_p.C983*|STK31_uc003swv.1_Nonsense_Mutation_p.C172*	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	1006	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGGATAAATGTATGGAGAAGA	0.333													55	50					0	0	1	0	0	A	23871943	T	A	23871943	4	1	207	1	0	0	0	0	0	1	0	0	15295	1644	57	5	3112	5	STK31	7	23871943	Nonsense_Mutation	SNP	T	TCGA-HT-7855-01A-11D-2395-08		23871943	135266720	27	8939											
PABPC1	26986	broad.mit.edu	37	chr8	101724994	101724995	+	Frame_Shift_Ins	INS	-	-	A																															tttgttttccattgagctccINStttccgttcatctcatccac																								rs140822921	by1000genomes	TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr8:101724994_101724995insA	uc003yjs.1	-	5	1265_1266	c.761_762insT	c.(760-762)aagfs	p.K254fs	PABPC1_uc011lhc.1_Frame_Shift_Ins_p.K222fs|PABPC1_uc011lhd.1_Frame_Shift_Ins_p.K209fs|PABPC1_uc003yjt.1_Frame_Shift_Ins_p.K251fs|PABPC1_uc003yju.2_Non-coding_Transcript	NM_002568	NP_002559	P11940	PABP1_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1 (PABPC1), mRNA.	254	CSDE1-binding.|RRM 3.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CATTGAGCTCCTTTCCGTTCAT	0.371													8	85	---	---	---	---						A	101724995	-	A	101724994	7	5	207	1	0	1	1	0	0	0	0	0	11363	680	24	0	1184	0	PABPC1	8	101724994	Frame_Shift_Ins	INS	-	TCGA-HT-7855-01A-11D-2395-08		101724994	44639028	28	8940											
OR1J4	26219	broad.mit.edu	37	chr9	125281597	125281599	+	In_Frame_Del	DEL	TTC	TTC	-																															ctcaccttcacacccccatgTtcttcttcctcagccacttg																										TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr9:125281597_125281599delTTC	uc011lyw.2	+	0	178_180	c.178_180delTTC	c.(178-180)ttcdel	p.F62del		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CACCCCCATGTTCTTCTTCCTCA	0.498													133	175	---	---	---	---						-	125281599	TTC	-	125281597	7	5	207	1	0	1	0	1	0	0	0	0	10961	1725	60	0	180	0	OR1J4	9	125281597	In_Frame_Del	DEL	TTC	TCGA-HT-7855-01A-11D-2395-08		125281597	15931834	29	8941											
PTER	9317	broad.mit.edu	37	chr10	16553190	16553190	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaatgttgctgagaggcAtaactgagaatgtgcttgat	13	12	11	5	0	0	3	0	3	0	2	0	5	0	3	0	1	3	4	0	1	4	4			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr10:16553190A>C	uc001iog.1	+	5	1192	c.985A>C	c.(985-987)Ata>Cta	p.I329L	PTER_uc001ioh.1_Missense_Mutation_p.I329L|PTER_uc001ioi.1_Missense_Mutation_p.I329L|PTER_uc009xjp.1_Missense_Mutation_p.I282L	NM_030664	NP_109589	Q96BW5	PTER_HUMAN	Homo sapiens phosphotriesterase related (PTER), transcript variant 2, mRNA.	329					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						GCTGAGAGGCATAACTGAGAA	0.383													7	136					0	0	1	0	0	C	16553190	A	C	16553190	3	2	207	1	0	0	0	0	1	0	0	0	12739	217	8	5	999	5	PTER	10	16553190	Missense_Mutation	SNP	A	TCGA-HT-7855-01A-11D-2395-08		16553190	118981557	30	8942											
OR51B2	79345	broad.mit.edu	37	chr11	5345181	5345181	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgaaacaatcatatgccAttgccaggagggaacctgat	15	8	9	9	0	1	2	1	2	0	0	1	4	1	4	3	2	4	0	3	2	5	2			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr11:5345181A>G	uc001mao.1	-	0	402	c.347T>C	c.(346-348)aTg>aCg	p.M116T	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCATATGCCATTGCCAGGAG	0.458													7	85					0	0	1	0	0	G	5345181	A	G	5345181	3	3	207	1	0	0	0	0	1	0	0	0	11089	217	8	3	595	3	OR51B2	11	5345181	Missense_Mutation	SNP	A	TCGA-HT-7855-01A-11D-2395-08		5345181	129661335	31	8943											
ZDHHC5	25921	broad.mit.edu	37	chr11	57466855	57466857	+	In_Frame_Del	DEL	AGA	AGA	-																															caacctggtgtctctgagacAgaagaagtggccttgcagcc																										TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr11:57466855_57466857delAGA	uc001nkx.1	+	10	3203_3205	c.1947_1949delAGA	c.(1945-1950)acagaa>aca	p.E651del	ZDHHC5_uc001nky.1_In_Frame_Del_p.E598del|ZDHHC5_uc001nkz.1_In_Frame_Del_p.E465del	NM_015457	NP_056272	Q9C0B5	ZDHC5_HUMAN	Homo sapiens zinc finger, DHHC-type containing 5 (ZDHHC5), mRNA.	651						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						TCTCTGAGACAGAAGAAGTGGCC	0.512													11	107	---	---	---	---						-	57466857	AGA	-	57466855	7	5	207	1	0	1	0	1	0	0	0	0	17615	175	7	0	1985	0	ZDHHC5	11	57466855	In_Frame_Del	DEL	AGA	TCGA-HT-7855-01A-11D-2395-08	52121674	57466855	77539661	32	8944											
SCGB2A2	4250	broad.mit.edu	37	chr11	62037739	62037739	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccctctcccagcactgctaCgcaggtgagttctgtgcagg	6	9	12	14	1	2	1	0	1	2	0	3	1	2	1	2	2	4	5	2	2	1	2	rs137975337	byFrequency	TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr11:62037739C>T	uc001ntc.3	+	0	110	c.51C>T	c.(49-51)taC>taT	p.Y17Y	SCGB2A2_uc009ynx.3_Silent_p.Y17Y	NM_002411	NP_002402	Q13296	SG2A2_HUMAN	Homo sapiens secretoglobin, family 2A, member 2 (SCGB2A2), mRNA.	17						extracellular region	steroid binding			large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7						AGCACTGCTACGCAGGTGAGT	0.592													94	109					0	0	1	0	0	T	62037739	C	T	62037739	2	4	207	1	0	0	0	0	0	0	0	1	13900	547	19	1		1	SCGB2A2	11	62037739	Silent	SNP	C	TCGA-HT-7855-01A-11D-2395-08	4570884	62037739	72968777	33	8945											
C12orf71	728858	broad.mit.edu	37	chr12	27234398	27234398	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcggttgcctggcttatCatctgccatgaaaatgaagg	9	11	12	9	1	2	2	1	2	1	0	2	2	2	2	2	4	2	2	2	4	4	2			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr12:27234398C>A	uc001rhq.3	-	1	558	c.519G>T	c.(517-519)atG>atT	p.M173I		NM_001080406	NP_001073875	A8MTZ7	CL071_HUMAN	Homo sapiens chromosome 12 open reading frame 71 (C12orf71), mRNA.	173										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						CCTGGCTTATCATCTGCCATG	0.463													38	61					4.92203e-23	5.20599e-23	1	1	0	A	27234398	C	A	27234398	3	1	207	1	0	0	0	0	1	0	0	0	1712	826	29	5	294	5	C12orf71	12	27234398	Missense_Mutation	SNP	C	TCGA-HT-7855-01A-11D-2395-08		27234398	106617497	34	8946											
CALCOCO1	57658	broad.mit.edu	37	chr12	54110173	54110175	+	In_Frame_Del	DEL	CTC	CTC	-																															tccaaatttaagtgatggttCtcctgttgtgccacttggag																										TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr12:54110173_54110175delCTC	uc001sef.3	-	7	1018_1020	c.874_876delGAG	c.(874-876)gagdel	p.E292del	CALCOCO1_uc001see.3_5'Flank|CALCOCO1_uc010som.2_Intron|CALCOCO1_uc010son.2_In_Frame_Del_p.E169del|CALCOCO1_uc009znd.3_In_Frame_Del_p.E292del|CALCOCO1_uc001seg.3_Intron|CALCOCO1_uc001seh.2_In_Frame_Del_p.E292del|CALCOCO1_uc010soo.1_In_Frame_Del_p.E285del	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	Homo sapiens calcium binding and coiled-coil domain 1 (CALCOCO1), transcript variant 1, mRNA.	292					Wnt receptor signaling pathway|steroid hormone receptor signaling pathway|transcription, DNA-dependent	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						AGTGATGGTTCTCCTGTTGTGCC	0.542													40	50	---	---	---	---						-	54110175	CTC	-	54110173	7	5	207	1	0	1	0	1	0	0	0	0	2577	912	32	0	1231	0	CALCOCO1	12	54110173	In_Frame_Del	DEL	CTC	TCGA-HT-7855-01A-11D-2395-08	26875775	54110173	79741722	35	8947											
OR10G3	26533	broad.mit.edu	37	chr14	22038134	22038134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatagtacacggtgaccaCggttacatgggctccacaag	12	7	10	12	2	0	1	0	1	0	0	1	1	1	1	2	3	2	3	2	3	4	3	rs142649226	byFrequency	TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr14:22038134C>T	uc010tmb.2	-	0	742	c.742G>A	c.(742-744)Gtg>Atg	p.V248M		NM_001005465	NP_001005465	Q8NGC4	O10G3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 3 (OR10G3), mRNA.	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V248M(2)|p.V248L(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		ACGGTGACCACGGTTACATGG	0.577													20	110					0	0	1	0	0	T	22038134	C	T	22038134	3	4	207	1	0	0	0	0	1	0	0	0	10900	536	19	1	202	1	OR10G3	14	22038134	Missense_Mutation	SNP	C	TCGA-HT-7855-01A-11D-2395-08		22038134	85311406	36	8948											
FBXO33	254170	broad.mit.edu	37	chr14	39870639	39870639	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttaacatatcttcactcttGatatcaaaagccattatata	15	16	2	8	0	4	1	2	1	2	0	4	1	4	1	1	0	2	0	1	0	8	9	rs144987416		TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr14:39870639G>A	uc001wvk.3	-	2	1475	c.1137C>T	c.(1135-1137)atC>atT	p.I379I		NM_203301	NP_976046	Q7Z6M2	FBX33_HUMAN	Homo sapiens F-box protein 33 (FBXO33), mRNA.	379										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		CTTCACTCTTGATATCAAAAG	0.398													43	53					0	0	1	0	0	A	39870639	G	A	39870639	2	1	207	1	0	0	0	0	0	0	0	1	5743	1280	45	3		3	FBXO33	14	39870639	Silent	SNP	G	TCGA-HT-7855-01A-11D-2395-08	17832505	39870639	67478901	37	8949											
SLC28A2	9153	broad.mit.edu	37	chr15	45561537	45561537	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatctctctttcactcaggTcatctgctcctatctcctaa	8	16	3	14	0	7	0	3	0	4	0	10	0	8	0	2	1	1	1	2	1	3	4			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr15:45561537T>C	uc001zva.2	+	14	1434	c.1369_splice	c.e14-1	p.V457_splice		NM_004212	NP_004203	O43868	S28A2_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA.	457					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		TTCACTCAGGTCATCTGCTCC	0.478													32	112					0	0	1	0	0	C	45561537	T	C	45561537	5	2	207	1	0	0	0	0	0	0	1	0	14532	1681	58	3	1420	3	SLC28A2	15	45561537	Splice_Site	SNP	T	TCGA-HT-7855-01A-11D-2395-08		45561537	56969855	38	8950											
KIAA0556	23247	broad.mit.edu	37	chr16	27640072	27640072	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtctatgtcaacggtgccaaTtcggagctgaaatcatcacc	11	10	9	11	2	4	1	3	1	1	0	5	2	4	2	2	2	3	1	2	2	4	2			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr16:27640072T>C	uc002dow.3	+	3	255	c.231T>C	c.(229-231)aaT>aaC	p.N77N		NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	77										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ACGGTGCCAATTCGGAGCTGA	0.522													43	142					0	0	1	0	0	C	27640072	T	C	27640072	2	2	207	1	0	0	0	0	0	0	0	1	8183	1490	52	3		3	KIAA0556	16	27640072	Silent	SNP	T	TCGA-HT-7855-01A-11D-2395-08		27640072	62714681	39	8951											
TP53	7157	broad.mit.edu	37	chr17	7578542	7578542	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggcaaaacatcttgttgaGggcaggggagtactgtagga	11	10	15	5	0	1	1	0	1	1	0	1	3	1	3	0	5	2	5	0	5	4	5			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr17:7578542G>C	uc002gim.2	-	4	582	c.388C>G	c.(388-390)Ctc>Gtc	p.L130V	TP53_uc002gig.1_Missense_Mutation_p.L130V|TP53_uc002gih.3_Missense_Mutation_p.L130V|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Missense_Mutation_p.L130V|TP53_uc010cnh.1_Missense_Mutation_p.L130V|TP53_uc002gij.2_Missense_Mutation_p.L130V|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.L37V|TP53_uc002gio.2_5'UTR|TP53_uc010vug.2_Missense_Mutation_p.L91V	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	130	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.L130F(26)|p.L130V(22)|p.Y126_K132delYSPALNK(12)|p.0?(8)|p.L130R(7)|p.Y126_N131delYSPALN(6)|p.L130L(4)|p.L130H(4)|p.L130fs*19(4)|p.L37F(3)|p.L130fs*41(3)|p.S127_Q136del10(2)|p.A129_L130insXX(2)|p.A129_N131delALN(2)|p.L130fs*39(2)|p.L130fs*16(2)|p.A129_K132delALNK(2)|p.L130_M133delLNKM(2)|p.A129V(2)|p.A129T(2)|p.L130del(2)|p.L130fs*40(2)|p.Y126fs*11(1)|p.L130P(1)|p.V73fs*9(1)|p.Y126fs*18(1)|p.A129del(1)|p.N131fs*27(1)|p.A129G(1)|p.A129D(1)|p.P13fs*18(1)|p.S127fs*36(1)|p.A129fs*20(1)|p.A129fs*41(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)		ATCTTGTTGAGGGCAGGGGAG	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	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)			30	3					0	0	1	0	0	C	7578542	G	C	7578542	3	2	207	1	0	0	0	0	1	0	0	0	16378	1000	35	5	910	5	TP53	17	7578542	Missense_Mutation	SNP	G	TCGA-HT-7855-01A-11D-2395-08		7578542	73616668	40	8952											
MYO1F	4542	broad.mit.edu	37	chr19	8620581	8620581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcgcttccggaggttggCggcaatggcgtcttcggtga	6	9	17	9	5	1	1	0	1	1	0	3	3	2	2	1	6	1	3	1	6	2	3			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr19:8620581C>T	uc002mkg.3	-	1	241	c.103G>A	c.(103-105)Gcc>Acc	p.A35T	MYO1F_uc010xkf.2_Missense_Mutation_p.A35T	NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	35	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CGGAGGTTGGCGGCAATGGCG	0.617													26	61					0	0	1	0	0	T	8620581	C	T	8620581	3	4	207	1	0	0	0	0	1	0	0	0	10073	768	27	1	3301	1	MYO1F	19	8620581	Missense_Mutation	SNP	C	TCGA-HT-7855-01A-11D-2395-08		8620581	50508402	41	8953											
ICAM3	3385	broad.mit.edu	37	chr19	10445307	10445307	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcgtcactctcggtagcAtttagctgaagttgagctgg	7	12	12	10	3	2	2	1	2	1	0	4	2	2	2	1	2	3	5	1	2	3	4			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr19:10445307A>G	uc002mob.2	-	4	1144	c.1089T>C	c.(1087-1089)aaT>aaC	p.N363N	RAVER1_uc002moa.3_5'Flank|ICAM3_uc010dxd.1_Silent_p.N286N	NM_002162	NP_002153	P32942	ICAM3_HUMAN	Homo sapiens intercellular adhesion molecule 3 (ICAM3), mRNA.	363	Ig-like C2-type 4.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			TCTCGGTAGCATTTAGCTGAA	0.632													35	55					0	0	1	0	0	G	10445307	A	G	10445307	2	3	207	1	0	0	0	0	0	0	0	1	7481	214	8	3		3	ICAM3	19	10445307	Silent	SNP	A	TCGA-HT-7855-01A-11D-2395-08	1824726	10445307	48683676	42	8954											
SMARCA4	6597	broad.mit.edu	37	chr19	11106926	11106928	+	In_Frame_Del	DEL	AGA	AGA	-																															gtaccgcaagctcatcgaccAgaagaaggacaagcgcctgg																										TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr19:11106926_11106928delAGA	uc010dxp.3	+	10	1991_1993	c.1631_1633delAGA	c.(1630-1635)cagaag>cag	p.K546del	SMARCA4_uc010dxo.3_In_Frame_Del_p.K546del|SMARCA4_uc002mqf.4_In_Frame_Del_p.K546del|SMARCA4_uc002mqg.1_In_Frame_Del_p.K546del|SMARCA4_uc010dxq.3_In_Frame_Del_p.K546del|SMARCA4_uc010dxr.3_In_Frame_Del_p.K546del|SMARCA4_uc002mqj.4_In_Frame_Del_p.K546del|SMARCA4_uc010dxs.3_In_Frame_Del_p.K546del|SMARCA4_uc002mqe.2_In_Frame_Del_p.K546del	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	546					chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTCATCGACCAGAAGAAGGACAA	0.576			"F, N, Mis"		NSCLC								42	160	---	---	---	---						-	11106928	AGA	-	11106926	7	5	207	1	0	1	0	1	0	0	0	0	14770	188	7	0	1665	0	SMARCA4	19	11106926	In_Frame_Del	DEL	AGA	TCGA-HT-7855-01A-11D-2395-08	661619	11106926	48022057	43	8955											
EID2B	126272	broad.mit.edu	37	chr19	40023429	40023429	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggacatctccaacagcccaGtcggctccgccatagtccca	9	6	8	18	3	1	0	0	0	1	0	5	1	3	1	5	2	2	1	5	2	2	1			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr19:40023429G>C	uc002olz.1	-	0	66	c.14C>G	c.(13-15)aCt>aGt	p.T5S		NM_152361	NP_689574	Q96D98	EID2B_HUMAN	Homo sapiens EP300 interacting inhibitor of differentiation 2B (EID2B), mRNA.	5					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(1)|lung(1)|urinary_tract(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAACAGCCCAGTCGGCTCCGC	0.647											OREG0025463	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	19					0	0	1	0	0	C	40023429	G	C	40023429	3	2	207	1	0	0	0	0	1	0	0	0	4988	1029	36	5	475	5	EID2B	19	40023429	Missense_Mutation	SNP	G	TCGA-HT-7855-01A-11D-2395-08	28916503	40023429	19105554	44	8956											
TMPRSS6	164656	broad.mit.edu	37	chr22	37469676	37469676	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctctttgcactggaatgtgGctctgcaaactgtgtgggga	7	12	13	9	0	2	0	0	0	2	0	2	2	2	2	1	4	3	3	1	4	2	1			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr22:37469676G>C	uc003aqt.1	-	12	1513	c.1451C>G	c.(1450-1452)gCc>gGc	p.A484G	TMPRSS6_uc003aqs.1_Missense_Mutation_p.A493G	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	493	LDL-receptor class A 1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CTGGAATGTGGCTCTGCAAAC	0.587													11	96					0	0	1	0	0	C	37469676	G	C	37469676	3	2	207	1	0	0	0	0	1	0	0	0	16248	1203	42	5	981	5	TMPRSS6	22	37469676	Missense_Mutation	SNP	G	TCGA-HT-7855-01A-11D-2395-08		37469676	13834890	45	8957											
ATRX	546	broad.mit.edu	37	chrX	76918950	76918951	+	Frame_Shift_Del	DEL	CA	CA	-																															tctccagattctccgtcactCacagtcaatttgtgccgcaa																										TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chrX:76918950_76918951delCA	uc004ecp.4	-	11	4272_4273	c.4040_4041delTG	c.(4039-4041)gtgfs	p.V1347fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.V1309fs|ATRX_uc004eco.4_Frame_Shift_Del_p.V1132fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.V1279fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1347					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTCCGTCACTCACAGTCAATTT	0.361			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						27	5	---	---	---	---						-	76918951	CA	-	76918950	7	5	207	1	0	1	0	1	0	0	0	0	1208	813	29	0	3533	0	ATRX	23	76918950	Frame_Shift_Del	DEL	CA	TCGA-HT-7855-01A-11D-2395-08		76918950	78351610	46	8958											
CLCNKA	1187	broad.mit.edu	37	chr1	16377498	16377498	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgggaatggtaccacccGcggttcaccatctttgggac	7	10	13	11	2	2	0	1	0	1	0	2	2	2	2	3	5	1	2	3	5	2	3			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr1:16377498G>A	uc001axx.4	+	11	1318	c.1182G>A	c.(1180-1182)ccG>ccA	p.P394P	CLCNKA_uc021ogl.1_Intron|CLCNKA_uc021ogm.1_Silent_p.P225P|CLCNKA_uc001axy.4_Silent_p.P225P	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	394					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GGTACCACCCGCGGTTCACCA	0.632													10	49					0	0	1	0	0	A	16377498	G	A	16377498	2	1	208	1	0	0	0	0	0	0	0	1	3469	1074	38	1		1	CLCNKA	1	16377498	Silent	SNP	G	TCGA-HT-7856-01A-11D-2395-08		16377498	232873123	1	8959											
MERTK	10461	broad.mit.edu	37	chr2	112777090	112777090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatcgagatttagctgctcGaaactgcatgtaagagtcct	11	12	9	9	2	1	2	1	0	0	2	4	4	2	2	1	0	4	4	1	0	3	3			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr2:112777090G>A	uc002thk.1	+	15	2302	c.2180G>A	c.(2179-2181)cGa>cAa	p.R727Q	MERTK_uc002thl.1_Missense_Mutation_p.R551Q	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	727	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TTAGCTGCTCGAAACTGCATG	0.458													6	43					0	0	1	0	0	A	112777090	G	A	112777090	3	1	208	1	0	0	0	0	1	0	0	0	9479	1058	37	2	2242	2	MERTK	2	112777090	Missense_Mutation	SNP	G	TCGA-HT-7856-01A-11D-2395-08		112777090	130422283	2	8960											
GOLGA4	2803	broad.mit.edu	37	chr3	37363363	37363363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggaccttcagcaagaagcaGagacttacagaactgtaagt	15	7	11	8	0	1	3	1	0	0	3	1	5	1	4	1	1	4	3	1	1	5	3			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr3:37363363G>A	uc003cgv.3	+	12	2047	c.1687G>A	c.(1687-1689)Gag>Aag	p.E563K	GOLGA4_uc010hgr.2_Missense_Mutation_p.E124K|GOLGA4_uc003cgw.3_Missense_Mutation_p.E585K|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Missense_Mutation_p.E444K	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	563	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCAAGAAGCAGAGACTTACAG	0.348													5	32					0	0	1	0	0	A	37363363	G	A	37363363	3	1	208	1	0	0	0	0	1	0	0	0	6555	943	33	3	1807	3	GOLGA4	3	37363363	Missense_Mutation	SNP	G	TCGA-HT-7856-01A-11D-2395-08		37363363	160659067	3	8961											
POU1F1	5449	broad.mit.edu	37	chr3	87325590	87325590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggtataaaggtatcagccGaagtaaaagcttggcaactc	15	8	11	7	1	1	0	1	0	0	0	2	2	1	0	1	3	3	5	1	3	8	5			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr3:87325590G>A	uc010hoj.1	-	0	148	c.23C>T	c.(22-24)tCg>tTg	p.S8L	POU1F1_uc003dqq.1_Missense_Mutation_p.S8L	NM_001122757	NP_001116229	P28069	PIT1_HUMAN	Homo sapiens POU class 1 homeobox 1 (POU1F1), transcript variant beta, mRNA.	8					negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		GGTATCAGCCGAAGTAAAAGC	0.458													10	23					0	0	1	0	0	A	87325590	G	A	87325590	3	1	208	1	0	0	0	0	1	0	0	0	12269	1059	37	2	954	2	POU1F1	3	87325590	Missense_Mutation	SNP	G	TCGA-HT-7856-01A-11D-2395-08	49962227	87325590	110696840	4	8962											
RINT1	60561	broad.mit.edu	37	chr7	105177177	105177177	+	Missense_Mutation	SNP	A	A	C																															agaacagaggacagtaagtaAaatgcagttagaagaacagg																										TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr7:105177177A>C	uc003vda.1	+	2	485	c.254A>C	c.(253-255)aAa>aCa	p.K85T	RINT1_uc010ljj.1_Intron	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	Homo sapiens RAD50 interactor 1 (RINT1), mRNA.	85					G2/M transition DNA damage checkpoint|cell cycle|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ACAGTAAGTAAAATGCAGTTA	0.284													4	24					0	0	1	0	0	C	105177177	A	C	105177177	3	2	208	1	0	0	0	0	1	0	0	0	13376	14	1	5	264	5	RINT1	7	105177177	Missense_Mutation	SNP	A	TCGA-HT-7856-01A-11D-2395-08		105177177	53961486	5	8963	33	3									
RINT1	60561	broad.mit.edu	37	chr7	105177178	105177178	+	Missense_Mutation	SNP	A	A	T																															gaacagaggacagtaagtaaAatgcagttagaagaacaggt																										TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr7:105177178A>T	uc003vda.1	+	2	486	c.255A>T	c.(253-255)aaA>aaT	p.K85N	RINT1_uc010ljj.1_Intron	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	Homo sapiens RAD50 interactor 1 (RINT1), mRNA.	85					G2/M transition DNA damage checkpoint|cell cycle|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CAGTAAGTAAAATGCAGTTAG	0.279													4	22					0	0	1	0	0	T	105177178	A	T	105177178	3	4	208	1	0	0	0	0	1	0	0	0	13376	11	1	5	265	5	RINT1	7	105177178	Missense_Mutation	SNP	A	TCGA-HT-7856-01A-11D-2395-08	1	105177178	53961485	6	8964	33	3									
RINT1	60561	broad.mit.edu	37	chr7	105177182	105177182	+	Missense_Mutation	SNP	C	C	G																															agaggacagtaagtaaaatgCagttagaagaacaggtaagt																										TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr7:105177182C>G	uc003vda.1	+	2	490	c.259C>G	c.(259-261)Cag>Gag	p.Q87E	RINT1_uc010ljj.1_Intron	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	Homo sapiens RAD50 interactor 1 (RINT1), mRNA.	87					G2/M transition DNA damage checkpoint|cell cycle|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AAGTAAAATGCAGTTAGAAGA	0.264													4	21					0	0	1	0	0	G	105177182	C	G	105177182	3	3	208	1	0	0	0	0	1	0	0	0	13376	711	25	5	269	5	RINT1	7	105177182	Missense_Mutation	SNP	C	TCGA-HT-7856-01A-11D-2395-08	4	105177182	53961481	7	8965	33	3									
IMPDH1	3614	broad.mit.edu	37	chr7	128040207	128040207	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgtcacacctgctggagcCaccaccagttcaatccttgg	10	8	8	15	1	2	0	2	0	0	0	3	1	3	1	5	2	3	2	5	2	2	2			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr7:128040207C>T	uc011kol.1	-	5	667	c.561G>A	c.(559-561)gtG>gtA	p.V187V	IMPDH1_uc011kom.1_Silent_p.V182V|IMPDH1_uc003vmt.2_Silent_p.V162V|IMPDH1_uc003vmu.2_Silent_p.V272V|IMPDH1_uc003vmx.2_Silent_p.V195V|IMPDH1_uc003vmy.2_Silent_p.V203V|IMPDH1_uc003vmw.2_Silent_p.V262V|IMPDH1_uc011kon.1_Silent_p.V239V|IMPDH1_uc003vmv.2_Silent_p.V236V	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 1 (IMPDH1), transcript variant 5, mRNA.	187	CBS 2.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	CTGCTGGAGCCACCACCAGTT	0.567													21	129					0	0	1	0	0	T	128040207	C	T	128040207	2	4	208	1	0	0	0	0	0	0	0	1	7726	581	21	3		3	IMPDH1	7	128040207	Silent	SNP	C	TCGA-HT-7856-01A-11D-2395-08	22863025	128040207	31098456	8	8966											
SLC1A2	6506	broad.mit.edu	37	chr11	35336644	35336644	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgagtatatcccctgggaagGctattaacataaccacatca	14	10	7	10	0	1	1	1	1	0	0	2	2	2	2	3	2	2	2	3	2	6	5			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr11:35336644G>C	uc001mwd.3	-	2	828	c.236C>G	c.(235-237)gCc>gGc	p.A79G	SLC1A2_uc021qfx.1_Missense_Mutation_p.A70G|SLC1A2_uc001mwe.3_Missense_Mutation_p.A70G|SLC1A2_uc010rev.1_Missense_Mutation_p.A79G	NM_004171	NP_001239581	P43004	EAA2_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 2 (SLC1A2), transcript variant 1, mRNA.	79					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	CCCTGGGAAGGCTATTAACAT	0.478													5	56					0	0	1	0	0	C	35336644	G	C	35336644	3	2	208	1	0	0	0	0	1	0	0	0	14432	1203	42	5	1524	5	SLC1A2	11	35336644	Missense_Mutation	SNP	G	TCGA-HT-7856-01A-11D-2395-08		35336644	99669872	9	8967											
JAM3	83700	broad.mit.edu	37	chr11	134018707	134018707	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaactacatccgcactgaCgaggaggtaatcatttagta	13	11	9	8	2	1	1	1	1	0	0	2	3	2	2	1	2	2	4	1	2	5	6	rs150992119	by1000genomes	TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr11:134018707C>T	uc001qhb.2	+	7	1050	c.1026C>T	c.(1024-1026)gaC>gaT	p.D342D	JAM3_uc009zcz.2_Silent_p.D246D	NM_032801	NP_116190	Q9BX67	JAM3_HUMAN	Homo sapiens junctional adhesion molecule 3 (JAM3), transcript variant 1, mRNA.	297					angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		TCCGCACTGACGAGGAGGTAA	0.463													6	29					0	0	1	0	0	T	134018707	C	T	134018707	2	4	208	1	0	0	0	0	0	0	0	1	7944	535	19	1		1	JAM3	11	134018707	Silent	SNP	C	TCGA-HT-7856-01A-11D-2395-08	98682063	134018707	987809	10	8968											
AMHR2	269	broad.mit.edu	37	chr12	53825209	53825209	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacttcagcgttcagcaaggCccttgttccaggaatcctca	9	10	8	14	1	3	0	3	0	0	0	5	1	5	1	3	2	2	3	3	2	2	4			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr12:53825209C>T	uc001scx.2	+	10	1754	c.1674C>T	c.(1672-1674)ggC>ggT	p.G558G	AMHR2_uc009zmy.2_3'UTR|AMHR2_uc021qyg.1_Silent_p.G463G	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	558					Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	TTCAGCAAGGCCCTTGTTCCA	0.517													11	95					0	0	1	0	0	T	53825209	C	T	53825209	2	4	208	1	0	0	0	0	0	0	0	1	573	726	26	3		3	AMHR2	12	53825209	Silent	SNP	C	TCGA-HT-7856-01A-11D-2395-08		53825209	80026686	11	8969											
ANKRD52	283373	broad.mit.edu	37	chr12	56645997	56645997	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcagcgtagtggaggggAgagcagcctttacagtcggc	8	6	18	9	3	0	1	0	0	0	1	1	3	0	2	1	5	4	3	1	5	2	3			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr12:56645997A>G	uc001skm.4	-	13	1563	c.1473T>C	c.(1471-1473)tcT>tcC	p.S491S		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA.	491							protein binding	p.C490R(1)		endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						AGTGGAGGGGAGAGCAGCCTT	0.577													12	87					0	0	1	0	0	G	56645997	A	G	56645997	2	3	208	1	0	0	0	0	0	0	0	1	678	291	11	4		4	ANKRD52	12	56645997	Silent	SNP	A	TCGA-HT-7856-01A-11D-2395-08	2820788	56645997	77205898	12	8970											
PGF	5228	broad.mit.edu	37	chr14	75416122	75416122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attctcatcgccgcagcagcCggtgcagcgcagcagggaga	9	5	14	13	4	1	1	1	0	1	1	3	2	1	1	2	2	5	5	2	2	0	1			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr14:75416122C>T	uc010ase.2	-	2	775	c.253G>A	c.(253-255)Ggc>Agc	p.G85S	PGF_uc001xqz.3_Missense_Mutation_p.G85S|PGF_uc001xrb.3_Missense_Mutation_p.G85S|PGF_uc010asf.2_Silent_p.P70P	NM_001207012	NP_001193941	P49763	PLGF_HUMAN	Homo sapiens placental growth factor (PGF), transcript variant 2, mRNA.	85					angiogenesis|cell differentiation|cell-cell signaling|positive regulation of cell division|positive regulation of cell proliferation|vascular endothelial growth factor receptor signaling pathway	extracellular region|membrane	growth factor activity|heparin binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.00668)		CCGCAGCAGCCGGTGCAGCGC	0.652													9	63					0	0	1	0	0	T	75416122	C	T	75416122	3	4	208	1	0	0	0	0	1	0	0	0	11788	652	23	2	279	2	PGF	14	75416122	Missense_Mutation	SNP	C	TCGA-HT-7856-01A-11D-2395-08		75416122	31933418	13	8971											
SIN3A	25942	broad.mit.edu	37	chr15	75688839	75688839	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctaaaactacatcaagcTgaagaggaagacaaagaagg	19	6	9	7	0	2	4	1	1	1	3	3	5	2	5	0	2	3	1	0	2	8	2			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr15:75688839T>C	uc002bai.3	-	13	2114	c.1855_splice	c.e13-1	p.L619_splice	SIN3A_uc002baj.3_Splice_Site_p.L619_splice|SIN3A_uc010uml.2_Splice_Site_p.L619_splice	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	619	Interaction with NCOR1 (By similarity).|Interactions with SUDS3 and SAP130.			ELD -> DLM (in Ref. 4; AAK95854).	blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex|nucleolus	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TACATCAAGCTGAAGAGGAAG	0.413													5	42					0	0	1	0	0	C	75688839	T	C	75688839	5	2	208	1	0	0	0	0	0	0	1	0	14325	1594	55	4	2004	4	SIN3A	15	75688839	Splice_Site	SNP	T	TCGA-HT-7856-01A-11D-2395-08		75688839	26842553	14	8972											
IDH2	3418	broad.mit.edu	37	chr15	90631839	90631839	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcgccatgggcgtgccTgccaatggtgatgggcttgg	4	10	17	10	2	0	1	0	1	0	0	1	1	0	1	3	5	2	1	3	5	1	1			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr15:90631839T>A	uc002box.3	-	3	600	c.514A>T	c.(514-516)Agg>Tgg	p.R172W	IDH2_uc010uqb.2_Missense_Mutation_p.R120W|IDH2_uc010uqc.2_Missense_Mutation_p.R42W	NM_002168	NP_002159	P48735	IDHP_HUMAN	Homo sapiens isocitrate dehydrogenase 2 (NADP+), mitochondrial (IDH2), nuclear gene encoding mitochondrial protein, mRNA.	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding	p.R172K(242)|p.R172W(28)|p.R172M(23)|p.R172S(18)|p.R172?(13)|p.R172G(7)|p.G171D(4)|p.R172L(1)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			TGGGCGTGCCTGCCAATGGTG	0.627			M		GBM								9	57					0	0	1	0	0	A	90631839	T	A	90631839	3	1	208	1	0	0	0	0	1	0	0	0	7495	1579	55	5	876	5	IDH2	15	90631839	Missense_Mutation	SNP	T	TCGA-HT-7856-01A-11D-2395-08	14943000	90631839	11899553	15	8973											
MAST3	23031	broad.mit.edu	37	chr19	18248097	18248097	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttttcctggccctggactGggcagggcttctccgacaca	5	11	11	14	1	1	0	0	0	1	0	3	2	2	1	3	4	0	2	3	4	0	3			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr19:18248097G>A	uc002nhz.4	+	17	1934	c.1934G>A	c.(1933-1935)tGg>tAg	p.W645*		NM_015016	NP_055831	O60307	MAST3_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA.	645	AGC-kinase C-terminal.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GCCCTGGACTGGGCAGGGCTT	0.622													6	61					0	0	1	0	0	A	18248097	G	A	18248097	4	1	208	1	0	0	0	0	0	1	0	0	9326	1357	47	3	2004	3	MAST3	19	18248097	Nonsense_Mutation	SNP	G	TCGA-HT-7856-01A-11D-2395-08		18248097	40880886	16	8974											
RYR1	6261	broad.mit.edu	37	chr19	39026681	39026681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagacagaacaaggccgaggGgctgggcatggtgaatgagg	12	4	19	6	1	0	4	0	2	0	2	0	6	0	4	1	6	1	2	1	6	3	0			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr19:39026681G>A	uc002oit.3	+	81	11691	c.11561G>A	c.(11560-11562)gGg>gAg	p.G3854E	RYR1_uc002oiu.3_Missense_Mutation_p.G3849E|RYR1_uc002oiv.1_Missense_Mutation_p.G769E	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3854					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.G3854R(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AAGGCCGAGGGGCTGGGCATG	0.577													4	17					0	0	1	0	0	A	39026681	G	A	39026681	3	1	208	1	0	0	0	0	1	0	0	0	13768	1232	43	3	11887	3	RYR1	19	39026681	Missense_Mutation	SNP	G	TCGA-HT-7856-01A-11D-2395-08	20778584	39026681	20102302	17	8975											
TAB1	10454	broad.mit.edu	37	chr22	39814843	39814843	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgagctcttccgtctttcGcagctgggtgagtggggaga	6	11	16	8	2	2	3	0	2	2	1	4	5	3	3	1	3	2	3	1	3	0	2	rs143506704	byFrequency	TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr22:39814843G>A	uc003axt.3	+	5	706	c.657G>A	c.(655-657)tcG>tcA	p.S219S	TAB1_uc003axr.3_Silent_p.S295S|TAB1_uc011aok.2_Silent_p.S53S|TAB1_uc003axu.1_Silent_p.S219S	NM_006116	NP_006107	Q15750	TAB1_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 1 (TAB1), transcript variant alpha, mRNA.	219	PP2C-like.				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						TCCGTCTTTCGCAGCTGGGTG	0.587													5	60					0	0	1	0	0	A	39814843	G	A	39814843	2	1	208	1	0	0	0	0	0	0	0	1	15492	1074	38	1		1	TAB1	22	39814843	Silent	SNP	G	TCGA-HT-7856-01A-11D-2395-08		39814843	11489723	18	8976											
FUCA1	2517	broad.mit.edu	37	chr1	24194728	24194728	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccgaggaagagcagcagcaGcaacagcgcgggacccgccg	11	1	15	14	5	0	1	0	0	0	1	1	4	1	3	3	2	6	4	3	2	2	0			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr1:24194728G>C	uc001bie.3	-	0	132	c.49C>G	c.(49-51)Ctg>Gtg	p.L17V	FUCA1_uc009vqt.2_Non-coding_Transcript|FUCA1_uc010oed.1_Non-coding_Transcript	NM_000147	NP_000138	P04066	FUCO_HUMAN	Homo sapiens fucosidase, alpha-L- 1, tissue (FUCA1), mRNA.	17					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		AGCAGCAGCAGCAACAGCGCG	0.746													2	2					0	0	1	0	0	C	24194728	G	C	24194728	3	2	209	1	0	0	0	0	1	0	0	0	6094	962	34	5	1383	5	FUCA1	1	24194728	Missense_Mutation	SNP	G	TCGA-HT-7857-01A-11D-2395-08		24194728	225055893	1	8977											
ABCA4	24	broad.mit.edu	37	chr1	94528252	94528252	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcagataggcaaacccGccccagatgtaccggaaatc	12	6	9	14	2	0	2	0	0	0	2	2	3	1	3	5	2	3	3	5	2	4	2			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr1:94528252G>T	uc001dqh.3	-	12	1922	c.1818C>A	c.(1816-1818)ggC>ggA	p.G606G	ABCA4_uc010otn.1_Silent_p.G606G	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	606					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AGGCAAACCCGCCCCAGATGT	0.562													10	30					0.000442599	0.000442599	1	1	0	T	94528252	G	T	94528252	2	4	209	1	0	0	0	0	0	0	0	1	34	1074	38	5		5	ABCA4	1	94528252	Silent	SNP	G	TCGA-HT-7857-01A-11D-2395-08	70333524	94528252	154722369	2	8978											
PSME4	23198	broad.mit.edu	37	chr2	54148047	54148049	+	In_Frame_Del	DEL	AGG	AGG	-																															ttgataggaaagtattcagaAggaggcttgtcaaagccacc																										TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr2:54148047_54148049delAGG	uc002rxp.2	-	17	2295_2297	c.2239_2241delCCT	c.(2239-2241)cctdel	p.P747del	PSME4_uc010yop.1_In_Frame_Del_p.P633del|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_In_Frame_Del_p.P122del|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_In_Frame_Del_p.P732del	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	747					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGTATTCAGAAGGAGGCTTGTCA	0.374													22	75	---	---	---	---						-	54148049	AGG	-	54148047	7	5	209	1	0	1	0	1	0	0	0	0	12709	59	3	0	3406	0	PSME4	2	54148047	In_Frame_Del	DEL	AGG	TCGA-HT-7857-01A-11D-2395-08		54148047	189051326	3	8979											
C4orf17	84103	broad.mit.edu	37	chr4	100443784	100443785	+	Frame_Shift_Ins	INS	-	-	G																															ccaattgcagttacccctccINSagcactgcagtccaggagag																								rs36110345	byFrequency	TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr4:100443784_100443785insG	uc003huw.3	+	2	617_618	c.255_256insG	c.(253-258)tccagcfs	p.S85fs	C4orf17_uc003hux.3_Non-coding_Transcript	NM_032149	NP_115525	Q53FE4	CD017_HUMAN	Homo sapiens chromosome 4 open reading frame 17 (C4orf17), mRNA.	85			S -> P (in dbSNP:rs13119384).							central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		GTTACCCCTCCAGCACTGCAGT	0.5													7	93	---	---	---	---						G	100443785	-	G	100443784	7	5	209	1	0	1	1	0	0	0	0	0	2252	581	21	0	261	0	C4orf17	4	100443784	Frame_Shift_Ins	INS	-	TCGA-HT-7857-01A-11D-2395-08		100443784	90710492	4	8980											
TET2	54790	broad.mit.edu	37	chr4	106155166	106155166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cattcctgataccatcacctCccatttgccagacagaacct	11	10	4	16	0	1	3	1	1	0	2	3	3	3	3	6	0	3	0	6	0	2	3			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr4:106155166C>T	uc011cez.2	+	2	535	c.130C>T	c.(130-132)Ccc>Tcc	p.P44S	TET2_uc003hxk.3_Missense_Mutation_p.P23S|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.P23S|TET2_uc010ilp.2_Missense_Mutation_p.P23S|TET2_uc021xql.1_Missense_Mutation_p.P23S	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	23					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ACCATCACCTCCCATTTGCCA	0.527			"Mis N, F"		MDS								11	43					0	0	1	0	0	T	106155166	C	T	106155166	3	4	209	1	0	0	0	0	1	0	0	0	15767	855	30	3	69	3	TET2	4	106155166	Missense_Mutation	SNP	C	TCGA-HT-7857-01A-11D-2395-08	5711382	106155166	84999110	5	8981											
NAA15	80155	broad.mit.edu	37	chr4	140262069	140262069	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaactaaattctttaggttGgcacgtttatggccttcttc	8	18	7	8	1	2	0	0	0	2	0	3	0	2	0	1	3	1	3	1	3	5	10			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr4:140262069G>A	uc003ihu.1	+	3	504	c.248G>A	c.(247-249)tGg>tAg	p.W83*		NM_057175	NP_476516	Q9BXJ9	NAA15_HUMAN	Homo sapiens N(alpha)-acetyltransferase 15, NatA auxiliary subunit (NAA15), mRNA.	83					N-terminal protein amino acid acetylation|angiogenesis|cell differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding	p.W83C(1)		NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TCTTTAGGTTGGCACGTTTAT	0.363													26	51					0	0	1	0	0	A	140262069	G	A	140262069	4	1	209	1	0	0	0	0	0	1	0	0	10118	1357	47	3	262	3	NAA15	4	140262069	Nonsense_Mutation	SNP	G	TCGA-HT-7857-01A-11D-2395-08	34106903	140262069	50892207	6	8982											
DUSP22	56940	broad.mit.edu	37	chr6	348272	348272	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgagaagcatgaggtccatCaggtaagcagttcttagggg	11	10	14	6	0	2	2	1	2	1	1	3	3	3	2	1	4	2	4	1	4	3	4			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr6:348272C>T	uc003msx.3	+	5	872	c.433C>T	c.(433-435)Cag>Tag	p.Q145*	DUSP22_uc011dhn.1_Nonsense_Mutation_p.Q145*|DUSP22_uc003msy.1_Nonsense_Mutation_p.Q102*	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	Homo sapiens dual specificity phosphatase 22 (DUSP22), mRNA.	145					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TGAGGTCCATCAGGTAAGCAG	0.577													14	132					0	0	1	0	0	T	348272	C	T	348272	4	4	209	1	0	0	0	0	0	1	0	0	4821	827	29	3	455	3	DUSP22	6	348272	Nonsense_Mutation	SNP	C	TCGA-HT-7857-01A-11D-2395-08		348272	170766795	7	8983											
OR10C1	442194	broad.mit.edu	37	chr6	29407957	29407957	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccactgatgctgccctccaGtcccctatgtacttcttcct	5	14	5	17	0	1	1	0	1	1	0	5	1	5	1	6	0	3	2	6	0	2	4			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr6:29407957G>T	uc011dlp.2	+	0	242	c.165G>T	c.(163-165)caG>caT	p.Q55H	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTGCCCTCCAGTCCCCTATGT	0.567													20	159					5.35267e-07	5.59056e-07	1	1	0	T	29407957	G	T	29407957	3	4	209	1	0	0	0	0	1	0	0	0	10898	1020	36	5	167	5	OR10C1	6	29407957	Missense_Mutation	SNP	G	TCGA-HT-7857-01A-11D-2395-08	29059685	29407957	141707110	8	8984											
DNAH8	1769	broad.mit.edu	37	chr6	38810444	38810444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttctttctgaaagatgtcGtaaacttccaaaaggactta	13	14	6	8	1	2	2	0	1	2	1	4	3	3	3	1	1	1	1	1	1	6	5			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr6:38810444G>A	uc021yzh.1	+	34	4719	c.4610G>A	c.(4609-4611)cGt>cAt	p.R1537H	DNAH8_uc003ooe.2_Missense_Mutation_p.R1320H	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAAAGATGTCGTAAACTTCCA	0.323													24	67					0	0	1	0	0	A	38810444	G	A	38810444	3	1	209	1	0	0	0	0	1	0	0	0	4607	1145	40	1	4081	1	DNAH8	6	38810444	Missense_Mutation	SNP	G	TCGA-HT-7857-01A-11D-2395-08	9402487	38810444	132304623	9	8985											
POU6F2	11281	broad.mit.edu	37	chr7	39500263	39500263	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccagactcaggtgggacAggctctcagtgctacagagg	10	6	14	11	0	2	2	2	0	1	2	3	4	2	3	1	4	2	2	1	4	1	1			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr7:39500263A>C	uc003thb.2	+	9	1663	c.1520A>C	c.(1519-1521)cAg>cCg	p.Q507P	POU6F2_uc022acb.1_Missense_Mutation_p.Q507P	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	507	POU-specific.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q507L(2)|p.Q507R(2)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CAGGTGGGACAGGCTCTCAGT	0.602													6	11					0	0	1	0	0	C	39500263	A	C	39500263	3	2	209	1	0	0	0	0	1	0	0	0	12285	188	7	5	1554	5	POU6F2	7	39500263	Missense_Mutation	SNP	A	TCGA-HT-7857-01A-11D-2395-08		39500263	119638400	10	8986											
EXOC4	60412	broad.mit.edu	37	chr7	133749244	133749244	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcgagcaggctgccatcaAgcaagccaccaaggacaaga	14	3	11	13	1	1	1	1	0	0	1	1	3	1	2	3	2	5	3	3	2	4	0			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr7:133749244A>G	uc003vrk.3	+	17	2923	c.2888A>G	c.(2887-2889)aAg>aGg	p.K963R	EXOC4_uc011kpo.2_Missense_Mutation_p.K862R|EXOC4_uc003vrl.3_Missense_Mutation_p.K573R|EXOC4_uc011kpp.2_Missense_Mutation_p.K495R|EXOC4_uc011kpq.2_Missense_Mutation_p.K251R	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	Homo sapiens exocyst complex component 4 (EXOC4), transcript variant 1, mRNA.	963					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GCTGCCATCAAGCAAGCCACC	0.572													21	68					0	0	1	0	0	G	133749244	A	G	133749244	3	3	209	1	0	0	0	0	1	0	0	0	5306	72	3	4	2967	4	EXOC4	7	133749244	Missense_Mutation	SNP	A	TCGA-HT-7857-01A-11D-2395-08	94248981	133749244	25389419	11	8987											
UBR5	51366	broad.mit.edu	37	chr8	103266680	103266680	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtcttattgtgattgaGggcataggctggaatccttc	7	14	14	6	0	1	2	0	2	1	0	3	3	2	3	1	5	0	2	1	5	3	5			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr8:103266680G>A	uc003ykr.2	-	58	8705	c.8250C>T	c.(8248-8250)ccC>ccT	p.P2750P	UBR5_uc003yks.2_Silent_p.P2749P|UBR5_uc003ykq.3_Silent_p.P261P	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	2750	HECT.|Pro-rich.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTGTGATTGAGGGCATAGGCT	0.408													10	68					0	0	1	0	0	A	103266680	G	A	103266680	2	1	209	1	0	0	0	0	0	0	0	1	16902	987	35	3		3	UBR5	8	103266680	Silent	SNP	G	TCGA-HT-7857-01A-11D-2395-08		103266680	43097342	12	8988											
ST8SIA6	338596	broad.mit.edu	37	chr10	17495614	17495614	+	Frame_Shift_Del	DEL	G	G	-																															cggagcgtcctcagcgctgcGggggtgccgtgggtggcctc																										TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr10:17495614delG	uc001ipd.3	-	1	144	c.144delC	c.(142-144)cccfs	p.P48fs	ST8SIA6_uc010qce.2_Non-coding_Transcript	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 (ST8SIA6), mRNA.	48					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						TCAGCGCTGCGGGGGTGCCGT	0.697													2	4	---	---	---	---						-	17495614	G	-	17495614	7	5	209	1	0	1	0	1	0	0	0	0	15235	1103	39	0	1080	0	ST8SIA6	10	17495614	Frame_Shift_Del	DEL	G	TCGA-HT-7857-01A-11D-2395-08		17495614	118039133	13	8989											
ANKK1	255239	broad.mit.edu	37	chr11	113267965	113267965	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacattaccatcgagacagaCatactgctgtcactgctgca	12	9	8	12	1	1	2	1	0	0	2	2	4	1	2	1	0	5	3	1	0	2	2			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr11:113267965C>T	uc001pny.3	+	5	952	c.858C>T	c.(856-858)gaC>gaT	p.D286D		NM_178510	NP_848605	Q8NFD2	ANKK1_HUMAN	Homo sapiens ankyrin repeat and kinase domain containing 1 (ANKK1), mRNA.	286	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		TCGAGACAGACATACTGCTGT	0.582													10	37					0	0	1	0	0	T	113267965	C	T	113267965	2	4	209	1	0	0	0	0	0	0	0	1	631	477	17	3		3	ANKK1	11	113267965	Silent	SNP	C	TCGA-HT-7857-01A-11D-2395-08		113267965	21738551	14	8990											
FMNL3	91010	broad.mit.edu	37	chr12	50043069	50043069	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctctggagcttgaagccAtacacagctccccgcttgct	8	9	10	14	1	1	1	0	1	1	0	2	2	2	2	3	2	5	5	3	2	2	3			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr12:50043069A>G	uc001ruv.1	-	19	2592	c.2358T>C	c.(2356-2358)taT>taC	p.Y786Y	FMNL3_uc001ruw.1_Silent_p.Y735Y|FMNL3_uc001rut.1_Silent_p.Y352Y|FMNL3_uc001ruu.1_Silent_p.Y636Y	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	Homo sapiens formin-like 3 (FMNL3), transcript variant 1, mRNA.	786	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GCTTGAAGCCATACACAGCTC	0.572													14	94					0	0	1	0	0	G	50043069	A	G	50043069	2	3	209	1	0	0	0	0	0	0	0	1	5953	224	8	3		3	FMNL3	12	50043069	Silent	SNP	A	TCGA-HT-7857-01A-11D-2395-08		50043069	83808826	15	8991											
PTPN11	5781	broad.mit.edu	37	chr12	112888197	112888197	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtatggaggggagaaattTgccactttggctgagttggt	8	13	15	5	0	0	2	0	1	0	1	0	4	0	3	1	5	1	3	1	5	2	4			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr12:112888197T>A	uc001ttx.3	+	2	593	c.213T>A	c.(211-213)ttT>ttA	p.F71L	PTPN11_uc001ttw.1_Missense_Mutation_p.F71L	NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	71	SH2 1.		F -> K (in acute myeloid leukemia; requires 2 nucleotide substitutions).|F -> L (in myelodysplastic syndrome).		T cell costimulation|axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.F71L(12)|p.F71K(3)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GGGAGAAATTTGCCACTTTGG	0.418			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome				50	97					0	0	1	0	0	A	112888197	T	A	112888197	3	1	209	1	0	0	0	0	1	0	0	0	12780	1809	63	5	223	5	PTPN11	12	112888197	Missense_Mutation	SNP	T	TCGA-HT-7857-01A-11D-2395-08	62845128	112888197	20963698	16	8992											
C15orf2	23742	broad.mit.edu	37	chr15	24921605	24921605	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagggcacccagggagaCgtggcctccttcagatgcag	8	6	13	14	1	1	2	1	0	0	2	3	3	3	2	4	3	1	2	4	3	0	1			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr15:24921605C>T	uc001ywo.3	+	0	1065	c.591C>T	c.(589-591)gaC>gaT	p.D197D		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	197					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCCAGGGAGACGTGGCCTCCT	0.592													6	44					0	0	1	0	0	T	24921605	C	T	24921605	2	4	209	1	0	0	0	0	0	0	0	1	1784	535	19	1		1	C15orf2	15	24921605	Silent	SNP	C	TCGA-HT-7857-01A-11D-2395-08		24921605	77609787	17	8993											
KLHL25	64410	broad.mit.edu	37	chr15	86311637	86311637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttgatcgtccacctgttctCcgaggggtcatagcactgga	7	11	11	12	2	2	1	1	1	1	0	5	3	3	2	3	3	1	2	3	3	1	3			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr15:86311637C>T	uc002bly.3	-	1	1608	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K	KLHL25_uc021stw.1_Missense_Mutation_p.E469K	NM_022480	NP_071925	Q9H0H3	ENC2_HUMAN	Homo sapiens kelch-like 25 (Drosophila) (KLHL25), mRNA.	469						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CACCTGTTCTCCGAGGGGTCA	0.602													18	137					0	0	1	0	0	T	86311637	C	T	86311637	3	4	209	1	0	0	0	0	1	0	0	0	8380	864	30	3	368	3	KLHL25	15	86311637	Missense_Mutation	SNP	C	TCGA-HT-7857-01A-11D-2395-08	61390032	86311637	16219755	18	8994											
PLA2G15	23659	broad.mit.edu	37	chr16	68293167	68293171	+	Frame_Shift_Del	DEL	CGTGC	CGTGC	-																															tggtcacctgagaaggtgttCgtgcagacacccacaatcaa																								rs142263893		TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr16:68293167_68293171delCGTGC	uc002evr.3	+	5	929_933	c.846_850delCGTGC	c.(844-852)ttcgtgcagfs	p.F282fs	PLA2G15_uc010vld.2_3'UTR|PLA2G15_uc010vle.2_Frame_Shift_Del_p.F188fs|PLA2G15_uc010vlf.2_Frame_Shift_Del_p.F82fs|PLA2G15_uc002evs.3_Frame_Shift_Del_p.F103fs	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN	Homo sapiens phospholipase A2, group XV (PLA2G15), mRNA.	282					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						AGAAGGTGTTCGTGCAGACACCCAC	0.58													16	67	---	---	---	---						-	68293171	CGTGC	-	68293167	7	5	209	1	0	1	0	1	0	0	0	0	11992	883	31	0	868	0	PLA2G15	16	68293167	Frame_Shift_Del	DEL	CGTGC	TCGA-HT-7857-01A-11D-2395-08		68293167	22061586	19	8995											
C16orf7	9605	broad.mit.edu	37	chr16	89785502	89785502	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgctcctcaggtattccgtGtatgcctcctgtgtccagga	6	13	10	12	1	1	0	1	0	0	0	5	1	5	1	5	2	2	3	5	2	2	3			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr16:89785502G>A	uc002fom.1	-	1	233	c.108C>T	c.(106-108)taC>taT	p.Y36Y	C16orf7_uc002fol.1_5'UTR|ZNF276_uc010ciq.3_5'Flank|ZNF276_uc002foq.4_5'Flank|ZNF276_uc010cir.3_5'Flank|ZNF276_uc002for.4_5'Flank|ZNF276_uc010cis.3_5'Flank|ZNF276_uc002fos.4_5'Flank|ZNF276_uc002fot.4_5'Flank	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	Homo sapiens chromosome 16 open reading frame 7 (C16orf7), mRNA.	36					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity			breast(1)|lung(3)|ovary(1)	5		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GGTATTCCGTGTATGCCTCCT	0.552													17	107					0	0	1	0	0	A	89785502	G	A	89785502	2	1	209	1	0	0	0	0	0	0	0	1	1828	1372	48	3		3	C16orf7	16	89785502	Silent	SNP	G	TCGA-HT-7857-01A-11D-2395-08	21492335	89785502	569251	20	8996											
NF1	4763	broad.mit.edu	37	chr17	29576001	29576001	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttatttttatttttttgtaGgttagaaccatcagagagcc	10	19	7	5	0	1	2	1	0	0	2	1	3	1	2	2	1	2	2	2	1	5	10			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr17:29576001G>A	uc002hgg.3	+	30	4358	c.3975_splice	c.e30-1	p.R1325_splice	NF1_uc002hgh.3_Splice_Site_p.R1325_splice|NF1_uc010csn.2_Splice_Site_p.R1185_splice|NF1_uc002hgi.1_Splice_Site_p.R358_splice	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1325	Ras-GAP.				MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTTTTTGTAGGTTAGAACCA	0.368			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			48	36					0	0	1	0	0	A	29576001	G	A	29576001	5	1	209	1	0	0	0	0	0	0	1	0	10356	1014	35	3	4153	3	NF1	17	29576001	Splice_Site	SNP	G	TCGA-HT-7857-01A-11D-2395-08		29576001	51619209	21	8997											
C19orf63	284361	broad.mit.edu	37	chr19	50981247	50981247	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggctgctgctggagcactCatttgagatcggtgagtcag	7	10	16	8	1	2	2	2	2	0	1	3	4	2	3	0	4	3	4	0	4	0	1			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr19:50981247C>G	uc002psl.3	+	1	242	c.176C>G	c.(175-177)tCa>tGa	p.S59*	FAM71E1_uc002psg.3_5'Flank|FAM71E1_uc002psh.3_5'Flank|FAM71E1_uc002psi.3_5'Flank|C19orf63_uc021uyd.1_Non-coding_Transcript|C19orf63_uc002psk.3_Nonsense_Mutation_p.S59*	NM_206538	NP_996261	Q5UCC4	INM02_HUMAN	Homo sapiens chromosome 19 open reading frame 63 (C19orf63), transcript variant HSM1, mRNA.	59						extracellular region|integral to membrane				breast(1)|lung(1)	2		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00733)|GBM - Glioblastoma multiforme(134;0.0252)		CTGGAGCACTCATTTGAGATC	0.607													3	34					0	0	1	0	0	G	50981247	C	G	50981247	4	3	209	1	0	0	0	0	0	1	0	0	1945	838	29	5	182	5	C19orf63	19	50981247	Nonsense_Mutation	SNP	C	TCGA-HT-7857-01A-11D-2395-08		50981247	8147736	22	8998											
APEX2	27301	broad.mit.edu	37	chrX	55033116	55033116	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagtcactggcgcccgcCatctcaactatggctcccgg	7	7	10	17	3	2	0	2	0	1	0	4	0	3	0	3	3	2	2	3	3	2	1	rs145122391		TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chrX:55033116C>T	uc004dtz.3	+	5	881	c.805C>T	c.(805-807)Cat>Tat	p.H269Y	APEX2_uc011mom.2_Missense_Mutation_p.H98Y	NM_014481	NP_055296	Q9UBZ4	APEX2_HUMAN	Homo sapiens APEX nuclease (apurinic/apyrimidinic endonuclease) 2 (APEX2), nuclear gene encoding mitochondrial protein, mRNA.	269			H -> Y (identified in a patient with mtDNA maintenance disorders).		DNA recombination|DNA repair|cell cycle	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						TGGCGCCCGCCATCTCAACTA	0.597								Other BER factors					3	22					0	0	1	0	0	T	55033116	C	T	55033116	3	4	209	1	0	0	0	0	1	0	0	0	770	594	21	3	827	3	APEX2	23	55033116	Missense_Mutation	SNP	C	TCGA-HT-7857-01A-11D-2395-08		55033116	100237444	23	8999											
ATRX	546	broad.mit.edu	37	chrX	76814303	76814306	+	Frame_Shift_Del	DEL	ATAA	ATAA	-																															atcctgctttagtagaaatgAtaaataatcgtcctctgaaa																										TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chrX:76814303_76814306delATAA	uc004ecp.4	-	28	6570_6573	c.6338_6341delTTAT	c.(6337-6342)tttatcfs	p.F2113fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.F2075fs|ATRX_uc004eco.4_Frame_Shift_Del_p.F1898fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2113	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.F2113fs*9(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AGTAGAAATGATAAATAATCGTCC	0.289			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						18	68	---	---	---	---						-	76814306	ATAA	-	76814303	7	5	209	1	0	1	0	1	0	0	0	0	1208	333	12	0	1165	0	ATRX	23	76814303	Frame_Shift_Del	DEL	ATAA	TCGA-HT-7857-01A-11D-2395-08	21781187	76814303	78456257	24	9000											
IPO13	9670	broad.mit.edu	37	chr1	44415398	44415398	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcactggcctcactggctCtcagcatgatgcctgacgct	6	10	11	14	1	2	2	2	2	1	0	3	2	2	2	2	3	2	4	2	3	0	0	rs138977771	byFrequency	TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr1:44415398C>G	uc001ckx.3	+	1	1189	c.394C>G	c.(394-396)Ctc>Gtc	p.L132V		NM_014652	NP_055467	O94829	IPO13_HUMAN	Homo sapiens importin 13 (IPO13), mRNA.	132					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CTCACTGGCTCTCAGCATGAT	0.587													17	31					0	0	1	0	0	G	44415398	C	G	44415398	3	3	210	1	0	0	0	0	1	0	0	0	7794	913	32	5	400	5	IPO13	1	44415398	Missense_Mutation	SNP	C	TCGA-HT-7858-01A-11D-2395-08		44415398	204835223	1	9001											
SRBD1	55133	broad.mit.edu	37	chr2	45646937	45646937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgtctcaccttaacaaaaCttctgaacagatgttaatat	14	15	4	8	0	2	2	1	1	2	1	3	2	2	2	1	0	3	1	1	0	6	5			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr2:45646937C>T	uc002rus.3	-	16	2222	c.2146G>A	c.(2146-2148)Gtt>Att	p.V716I	SRBD1_uc010yoc.2_Missense_Mutation_p.V235I	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	716					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		RNA binding|hydrolase activity, acting on ester bonds			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			CTTAACAAAACTTCTGAACAG	0.428													24	60					0	0	1	0	0	T	45646937	C	T	45646937	3	4	210	1	0	0	0	0	1	0	0	0	15132	565	20	3	861	3	SRBD1	2	45646937	Missense_Mutation	SNP	C	TCGA-HT-7858-01A-11D-2395-08		45646937	197552436	2	9002											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr2:209113113G>T	uc002vcs.3	-	3	640	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_uc002vct.3_Missense_Mutation_p.R132S|IDH1_uc002vcu.3_Missense_Mutation_p.R132S	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								18	64					0.000566183	0.000622801	1	1	0	T	209113113	G	T	209113113	3	4	210	1	0	0	0	0	1	0	0	0	7494	1058	37	5	878	5	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-7858-01A-11D-2395-08	163466176	209113113	34086260	3	9003											
UGT2B28	54490	broad.mit.edu	37	chr4	70152589	70152589	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgcaacagcccttgccaaGatcccacaaaaggtaagata	16	7	7	11	0	0	2	0	0	0	2	1	2	1	2	3	1	4	2	3	1	6	4			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr4:70152589G>C	uc003hej.3	+	2	992	c.990G>C	c.(988-990)aaG>aaC	p.K330N	UGT2B28_uc010ihr.3_Missense_Mutation_p.K330N	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	330					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	CCCTTGCCAAGATCCCACAAA	0.423													11	124					0	0	1	0	0	C	70152589	G	C	70152589	3	2	210	1	0	0	0	0	1	0	0	0	16957	933	33	5	1000	5	UGT2B28	4	70152589	Missense_Mutation	SNP	G	TCGA-HT-7858-01A-11D-2395-08		70152589	121001687	4	9004											
FYB	2533	broad.mit.edu	37	chr5	39203057	39203057	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgccccccgtgttatatttCgccatgagggactttacatc	7	14	8	12	2	0	1	0	1	0	0	2	2	0	2	4	1	2	1	4	1	3	6			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr5:39203057C>T	uc003jls.3	-	0	73	c.6G>A	c.(4-6)gcG>gcA	p.A2A	FYB_uc003jlt.3_Silent_p.A2A|FYB_uc003jlu.3_Silent_p.A2A|FYB_uc011cpl.2_Silent_p.A12A	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	2					NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding	p.A2V(1)		endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGTTATATTTCGCCATGAGGG	0.433													30	55					0	0	1	0	0	T	39203057	C	T	39203057	2	4	210	1	0	0	0	0	0	0	0	1	6124	871	31	2		2	FYB	5	39203057	Silent	SNP	C	TCGA-HT-7858-01A-11D-2395-08		39203057	141712203	5	9005											
HOXA1	3198	broad.mit.edu	37	chr7	27134952	27134952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaagatgtctccgatgcggGggagcgacaggcttcttggt	8	9	16	8	3	2	2	0	0	2	2	3	5	2	3	1	4	2	1	1	4	1	2			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr7:27134952G>A	uc003sye.3	-	0	674	c.580C>T	c.(580-582)Ccc>Tcc	p.P194S	HOXA1_uc003syd.3_Missense_Mutation_p.P126L|HOXA1_uc022aao.1_Missense_Mutation_p.P194S|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	194						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCCGATGCGGGGGAGCGACAG	0.552													36	89					0	0	1	0	0	A	27134952	G	A	27134952	3	1	210	1	0	0	0	0	1	0	0	0	7288	1232	43	3	435	3	HOXA1	7	27134952	Missense_Mutation	SNP	G	TCGA-HT-7858-01A-11D-2395-08		27134952	132003711	6	9006											
SSPO	23145	broad.mit.edu	37	chr7	149481078	149481078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagaggactgtggagagctgGgcagctgtgtggctggttgt	6	10	19	6	0	0	2	0	0	0	2	0	4	0	3	0	5	2	5	0	5	0	1			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr7:149481078G>A	uc010lpk.3	+	17	2560	c.2560G>A	c.(2560-2562)Ggc>Agc	p.G854S	SSPO_uc010lpl.1_Missense_Mutation_p.G189S	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	854	TIL 2.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGAGAGCTGGGCAGCTGTGT	0.647													6	13					0	0	1	0	0	A	149481078	G	A	149481078	3	1	210	1	0	0	0	0	1	0	0	0	15188	1232	43	3	2628	3	SSPO	7	149481078	Missense_Mutation	SNP	G	TCGA-HT-7858-01A-11D-2395-08	122346126	149481078	9657585	7	9007											
PLA2G12B	84647	broad.mit.edu	37	chr10	74700992	74700992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatcgagtggagacaccatCggaattttgcatcacagcga	13	8	11	9	3	1	2	1	0	0	2	3	6	1	3	1	2	2	1	1	2	1	2			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr10:74700992C>T	uc001jtf.1	-	2	468	c.401G>A	c.(400-402)cGa>cAa	p.R134Q	PLA2G12B_uc009xqt.1_Missense_Mutation_p.R44Q|PLA2G12B_uc010qjz.1_Missense_Mutation_p.R134Q	NM_032562	NP_115951	Q9BX93	PG12B_HUMAN	Homo sapiens phospholipase A2, group XIIB (PLA2G12B), mRNA.	134					lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					GAGACACCATCGGAATTTTGC	0.502													10	168					0	0	1	0	0	T	74700992	C	T	74700992	3	4	210	1	0	0	0	0	1	0	0	0	11991	884	31	2	194	2	PLA2G12B	10	74700992	Missense_Mutation	SNP	C	TCGA-HT-7858-01A-11D-2395-08		74700992	60833755	8	9008											
CNOT1	23019	broad.mit.edu	37	chr16	58564252	58564252	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcatacataggccacccCtgaaagaaagaaatgtacat	16	8	8	9	0	0	3	0	1	0	2	0	3	0	3	3	1	3	2	3	1	6	3			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr16:58564252C>A	uc002env.3	-	43	6471	c.6178_splice	c.e43-1	p.G2060_splice	CNOT1_uc002enw.3_Splice_Site|CNOT1_uc002enu.4_Splice_Site_p.G2055_splice|CNOT1_uc002ent.3_Splice_Site|CNOT1_uc010vik.2_Splice_Site_p.G1017_splice	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	2060					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TAGGCCACCCCTGAAAGAAAG	0.393													6	55					0.00198382	0.00211181	1	1	0	A	58564252	C	A	58564252	5	1	210	1	0	0	0	0	0	0	1	0	3617	695	24	5	981	5	CNOT1	16	58564252	Splice_Site	SNP	C	TCGA-HT-7858-01A-11D-2395-08		58564252	31790501	9	9009											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr17:7578406C>T	uc002gim.2	-	4	718	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.3_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.2_Missense_Mutation_p.R136H	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(1654)|p.R175L(38)|p.R43H(36)|p.R82H(36)|p.R175G(15)|p.R175C(15)|p.R175P(12)|p.R174W(10)|p.0?(8)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.R174fs*24(4)|p.R174fs*73(4)|p.R174K(4)|p.R174fs*1(4)|p.R175fs*5(3)|p.V157_C176del20(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R174_C176delRRC(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R174fs*70(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174M(2)|p.R174fs*3(2)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174G(1)|p.R81fs*24(1)|p.R174fs*7(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			31	16					0	0	1	0	0	T	7578406	C	T	7578406	3	4	210	1	0	0	0	0	1	0	0	0	16378	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-HT-7858-01A-11D-2395-08		7578406	73616804	10	9010											
CD300LB	124599	broad.mit.edu	37	chr17	72521999	72521999	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctccatggtcacagtgaaCgtgcggtctttctgattgtc	6	13	10	12	2	3	2	1	2	2	0	5	2	4	2	2	2	2	0	2	2	1	2			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr17:72521999C>T	uc002jkx.2	-	1	382	c.369G>A	c.(367-369)acG>acA	p.T123T	CD300LB_uc010wqz.1_Silent_p.T123T	NM_174892	NP_777552	A8K4G0	CLM7_HUMAN	Homo sapiens CD300 molecule-like family member b (CD300LB), mRNA.	86						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						TCACAGTGAACGTGCGGTCTT	0.517													69	156					0	0	1	0	0	T	72521999	C	T	72521999	2	4	210	1	0	0	0	0	0	0	0	1	2999	523	19	1		1	CD300LB	17	72521999	Silent	SNP	C	TCGA-HT-7858-01A-11D-2395-08	64943593	72521999	8673211	11	9011											
CYTH1	9267	broad.mit.edu	37	chr17	76694917	76694917	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacccggaggagctcctcCggcaggtctcccccatcatt	6	9	9	17	2	2	0	1	0	1	0	5	2	4	2	5	4	2	2	5	4	1	2			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr17:76694917C>T	uc021ueg.1	-	7	755	c.684G>A	c.(682-684)ccG>ccA	p.P228P	CYTH1_uc002jvw.3_Silent_p.P228P|U6_uc021ueh.1_5'Flank|CYTH1_uc010wtw.1_Silent_p.P169P|CYTH1_uc010wtx.1_Silent_p.P169P	NM_004762	NP_004753	Q15438	CYH1_HUMAN	Homo sapiens cytohesin 1 (CYTH1), transcript variant 1, mRNA.	228					regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						GGAGCTCCTCCGGCAGGTCTC	0.488													41	196					0	0	1	0	0	T	76694917	C	T	76694917	2	4	210	1	0	0	0	0	0	0	0	1	4203	639	23	2		2	CYTH1	17	76694917	Silent	SNP	C	TCGA-HT-7858-01A-11D-2395-08	4172918	76694917	4500293	12	9012											
DSC3	1825	broad.mit.edu	37	chr18	28574169	28574169	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgcatgcttctgctaatGtaataaatttgggttccaaa	11	16	8	6	0	1	0	0	0	1	0	2	0	2	0	1	1	3	5	1	1	5	7			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr18:28574169G>C	uc002kwj.4	-	15	2818	c.2663C>G	c.(2662-2664)aCa>aGa	p.T888R	DSC3_uc002kwi.4_3'UTR	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	888					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TTCTGCTAATGTAATAAATTT	0.388													13	48					0	0	1	0	0	C	28574169	G	C	28574169	3	2	210	1	0	0	0	0	1	0	0	0	4767	1377	48	5	31	5	DSC3	18	28574169	Missense_Mutation	SNP	G	TCGA-HT-7858-01A-11D-2395-08		28574169	49503079	13	9013											
CACNG8	59283	broad.mit.edu	37	chr19	54466583	54466583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctcacggccggcggcgacGacgggaccccccaccgcggg	6	1	15	19	8	1	0	1	0	0	0	1	3	1	1	6	5	0	0	6	5	0	0			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr19:54466583G>A	uc002qcs.2	+	0	294	c.187G>A	c.(187-189)Gac>Aac	p.D63N		NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 8 (CACNG8), mRNA.	63					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CGGCGGCGACGACGGGACCCC	0.701													4	27					0	0	1	0	0	A	54466583	G	A	54466583	3	1	210	1	0	0	0	0	1	0	0	0	2563	1058	37	2	189	2	CACNG8	19	54466583	Missense_Mutation	SNP	G	TCGA-HT-7858-01A-11D-2395-08		54466583	4662400	14	9014											
GZF1	64412	broad.mit.edu	37	chr20	23345745	23345745	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctaaaaagaaatatacgaGaagactccgagagcagcaga	19	4	9	9	2	0	5	0	0	0	5	1	7	1	5	2	0	3	2	2	0	7	3			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr20:23345745G>C	uc010gdb.3	+	2	899	c.725G>C	c.(724-726)aGa>aCa	p.R242T	GZF1_uc002wsy.3_Missense_Mutation_p.R242T|GZF1_uc010zsq.2_Intron|GZF1_uc010zsr.2_Intron|GZF1_uc002wsz.3_Missense_Mutation_p.R242T	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	Homo sapiens GDNF-inducible zinc finger protein 1 (GZF1), mRNA.	242					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					AAATATACGAGAAGACTCCGA	0.532													25	50					0	0	1	0	0	C	23345745	G	C	23345745	3	2	210	1	0	0	0	0	1	0	0	0	6914	942	33	5	727	5	GZF1	20	23345745	Missense_Mutation	SNP	G	TCGA-HT-7858-01A-11D-2395-08		23345745	39679775	15	9015											
DSCAM	1826	broad.mit.edu	37	chr21	41710291	41710291	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatgtttttcattggtcgaAtgcttgcaggccctggagag	7	14	13	7	1	1	2	1	1	0	1	2	4	1	2	1	3	2	3	1	3	1	4			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr21:41710291A>C	uc002yyq.1	-	7	1972	c.1520T>G	c.(1519-1521)aTt>aGt	p.I507S	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	507	Ig-like C2-type 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CATTGGTCGAATGCTTGCAGG	0.403													11	21					0	0	1	0	0	C	41710291	A	C	41710291	3	2	210	1	0	0	0	0	1	0	0	0	4768	101	4	5	4622	5	DSCAM	21	41710291	Missense_Mutation	SNP	A	TCGA-HT-7858-01A-11D-2395-08		41710291	6419604	16	9016											
MTMR3	8897	broad.mit.edu	37	chr22	30416522	30416522	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccacacccaatgggcattgCgccaatggggaggctggtag	9	6	14	12	1	0	0	0	0	0	0	0	1	0	1	3	5	1	3	3	5	3	2	rs147400483	byFrequency	TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr22:30416522C>T	uc003agv.4	+	16	3202	c.2874C>T	c.(2872-2874)tgC>tgT	p.C958C	MTMR3_uc003agu.4_Silent_p.C958C|MTMR3_uc003agw.4_Silent_p.C958C	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA.	958					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.C958C(3)		breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			ATGGGCATTGCGCCAATGGGG	0.582													22	56					0	0	1	0	0	T	30416522	C	T	30416522	2	4	210	1	0	0	0	0	0	0	0	1	9945	776	27	1		1	MTMR3	22	30416522	Silent	SNP	C	TCGA-HT-7858-01A-11D-2395-08		30416522	20888044	17	9017											
SEC14L4	284904	broad.mit.edu	37	chr22	30886219	30886219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catccggctgtaggtgttgtCgaagcgcaggacatctgcag	8	9	14	10	3	1	0	0	0	1	0	3	2	2	1	1	3	2	5	1	3	2	2			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr22:30886219C>T	uc003aid.2	-	11	1196	c.1096G>A	c.(1096-1098)Gac>Aac	p.D366N	SEC14L4_uc011akz.1_Intron|SEC14L4_uc003aie.2_Missense_Mutation_p.D351N|SEC14L4_uc003aif.2_Silent_p.S326S	NM_174977	NP_777637	Q9UDX3	S14L4_HUMAN	Homo sapiens SEC14-like 4 (S. cerevisiae) (SEC14L4), transcript variant 1, mRNA.	366	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	TAGGTGTTGTCGAAGCGCAGG	0.592													6	68					0	0	1	0	0	T	30886219	C	T	30886219	3	4	210	1	0	0	0	0	1	0	0	0	13984	884	31	2	134	2	SEC14L4	22	30886219	Missense_Mutation	SNP	C	TCGA-HT-7858-01A-11D-2395-08	469697	30886219	20418347	18	9018											
ATRX	546	broad.mit.edu	37	chrX	76939540	76939540	+	Frame_Shift_Del	DEL	T	T	-																															ccaatgcaagatgagccttcTtaatatcagccaacacagac																										TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chrX:76939540delT	uc004ecp.4	-	8	1440	c.1208delA	c.(1207-1209)aagfs	p.K403fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K365fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K188fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K364fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K403fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K348fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	403					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATGAGCCTTCTTAATATCAGC	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						176	103	---	---	---	---						-	76939540	T	-	76939540	7	5	210	1	0	1	0	1	0	0	0	0	1208	1609	56	0	6378	0	ATRX	23	76939540	Frame_Shift_Del	DEL	T	TCGA-HT-7858-01A-11D-2395-08		76939540	78331020	19	9019											
GRHL3	57822	broad.mit.edu	37	chr1	24671385	24671385	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctttttcacttcattgcAggcagccccctcggcaggac	6	12	9	14	1	3	0	2	0	1	0	4	1	3	1	2	3	2	3	2	3	0	4			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr1:24671385A>C	uc021oiw.1	+	12	1650	c.1420_splice	c.e12-2	p.A474_splice	GRHL3_uc001bix.3_Splice_Site_p.A474_splice|GRHL3_uc021oix.1_Splice_Site_p.A428_splice|GRHL3_uc001biy.3_Splice_Site_p.A479_splice|GRHL3_uc001biz.3_Splice_Site_p.A381_splice	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN	Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.	474					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		ACTTCATTGCAGGCAGCCCCC	0.572													24	45					0	0	1	0	0	C	24671385	A	C	24671385	5	2	211	1	0	0	0	0	0	0	1	0	6765	202	7	5	1500	5	GRHL3	1	24671385	Splice_Site	SNP	A	TCGA-HT-7860-01A-11D-2395-08		24671385	224579236	1	9020											
WDR65	149465	broad.mit.edu	37	chr1	43675514	43675514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctcggtgggaaccattcGtgccatgaagtaccctctgc	8	9	10	14	2	1	1	0	1	1	0	3	2	1	2	4	2	4	1	4	2	3	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr1:43675514G>A	uc021omk.1	+	10	2002	c.1856G>A	c.(1855-1857)cGt>cAt	p.R619H	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.R608H|WDR65_uc001ciq.2_Missense_Mutation_p.R619H|WDR65_uc001cip.2_Missense_Mutation_p.R619H	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	619										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGAACCATTCGTGCCATGAAG	0.552													38	61					0	0	1	0	0	A	43675514	G	A	43675514	3	1	211	1	0	0	0	0	1	0	0	0	17313	1145	40	1	1894	1	WDR65	1	43675514	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	19004129	43675514	205575107	2	9021											
LCE2A	353139	broad.mit.edu	37	chr1	152671462	152671462	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagtgtcctccaaagtgcCgacctcagtgcccagcccca	9	6	8	18	1	1	0	1	0	0	0	3	1	3	0	8	0	3	0	8	0	2	0			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr1:152671462C>T	uc021oze.1	+	0	85	c.85C>T	c.(85-87)Cga>Tga	p.R29*	LCE2A_uc001faj.3_Nonsense_Mutation_p.R29*	NM_178428	NP_848515	Q5TA79	LCE2A_HUMAN	Homo sapiens late cornified envelope 2A (LCE2A), mRNA.	29	Cys-rich.				keratinization					breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCAAAGTGCCGACCTCAGTG	0.637													71	123					0	0	1	0	0	T	152671462	C	T	152671462	4	4	211	1	0	0	0	0	0	1	0	0	8665	644	23	2	87	2	LCE2A	1	152671462	Nonsense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	108995948	152671462	96579159	3	9022											
DDR2	4921	broad.mit.edu	37	chr1	162746049	162746049	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtaagaactacacaatCaagatagctgactttggaat	15	10	10	6	0	1	3	1	1	0	2	1	4	1	4	0	2	3	2	0	2	7	4			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr1:162746049C>A	uc001gcf.3	+	16	2637	c.2172C>A	c.(2170-2172)atC>atA	p.I724I	DDR2_uc001gcg.3_Silent_p.I724I|Metazoa_SRP_uc021pds.1_5'Flank	NM_001014796	NP_006173	Q16832	DDR2_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 2 (DDR2), transcript variant 1, mRNA.	724	Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			ACTACACAATCAAGATAGCTG	0.488													72	162					5.97199e-22	6.28631e-22	1	1	0	A	162746049	C	A	162746049	2	1	211	1	0	0	0	0	0	0	0	1	4337	816	29	5		5	DDR2	1	162746049	Silent	SNP	C	TCGA-HT-7860-01A-11D-2395-08	10074587	162746049	86504572	4	9023											
PTPRC	5788	broad.mit.edu	37	chr1	198687263	198687263	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgactgtctccatgacatcAgataatagtatgcatgtcaa	14	12	7	8	0	3	3	2	2	1	1	4	3	3	3	1	0	1	2	1	0	4	3			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr1:198687263A>T	uc001gur.1	+	13	1665	c.1485A>T	c.(1483-1485)tcA>tcT	p.S495S	PTPRC_uc001gut.1_Silent_p.S334S|PTPRC_uc009wzf.1_Silent_p.S383S|PTPRC_uc021pgy.1_Silent_p.S449S|PTPRC_uc010ppg.1_Silent_p.S431S	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	495	Fibronectin type-III 2.				B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.T494S(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CCATGACATCAGATAATAGTA	0.388													23	35					0	0	1	0	0	T	198687263	A	T	198687263	2	4	211	1	0	0	0	0	0	0	0	1	12797	175	7	5		5	PTPRC	1	198687263	Silent	SNP	A	TCGA-HT-7860-01A-11D-2395-08	35941214	198687263	50563358	5	9024											
PLXNA2	5362	broad.mit.edu	37	chr1	208272302	208272302	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggcctgttggcatttgtcCctgcgggagcacctgccata	6	10	12	13	1	0	0	0	0	0	0	1	1	1	1	4	3	3	3	4	3	1	3			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr1:208272302C>A	uc001hgz.3	-	5	2378	c.1620G>T	c.(1618-1620)agG>agT	p.R540S		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	540					axon guidance	integral to membrane|intracellular|plasma membrane		p.R539C(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGCATTTGTCCCTGCGGGAGC	0.557													13	17					5.50884e-06	5.60221e-06	1	1	0	A	208272302	C	A	208272302	3	1	211	1	0	0	0	0	1	0	0	0	12120	622	22	5	4172	5	PLXNA2	1	208272302	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	9585039	208272302	40978319	6	9025											
C2orf71	388939	broad.mit.edu	37	chr2	29295046	29295046	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccagctttgccttgttcGtcctcaggatggggattgca	5	14	11	11	1	1	0	1	0	0	0	4	2	3	2	3	3	3	3	3	3	0	5			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:29295046G>A	uc002rmt.2	-	0	2082	c.2082C>T	c.(2080-2082)gaC>gaT	p.D694D		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	694					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGCCTTGTTCGTCCTCAGGAT	0.532													42	93					0	0	1	0	0	A	29295046	G	A	29295046	2	1	211	1	0	0	0	0	0	0	0	1	2191	1136	40	1		1	C2orf71	2	29295046	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08		29295046	213904327	7	9026											
EHBP1	23301	broad.mit.edu	37	chr2	63182658	63182658	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctttgcttttaagcatcgaTtgttatctagacaagaagaa	13	15	7	6	1	2	3	0	0	2	3	3	4	2	3	0	0	2	3	0	0	6	6			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:63182658T>C	uc002sby.3	+	14	2910	c.2428T>C	c.(2428-2430)Ttg>Ctg	p.L810L	EHBP1_uc010fcp.3_Silent_p.L775L|EHBP1_uc002sbz.3_Silent_p.L775L|EHBP1_uc002scb.3_Silent_p.L775L	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA.	810						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TAAGCATCGATTGTTATCTAG	0.358													7	17					0	0	1	0	0	C	63182658	T	C	63182658	2	2	211	1	0	0	0	0	0	0	0	1	4975	1490	52	3		3	EHBP1	2	63182658	Silent	SNP	T	TCGA-HT-7860-01A-11D-2395-08	33887612	63182658	180016715	8	9027											
ZNF638	27332	broad.mit.edu	37	chr2	71576931	71576931	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagtcctccaataatcggTcctttttctcagttgagagt	8	15	9	9	1	1	2	1	2	1	1	6	3	4	2	3	1	0	1	3	1	2	4			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:71576931T>A	uc002shx.3	+	1	1170	c.847T>A	c.(847-849)Tcc>Acc	p.S283T	ZNF638_uc010fec.2_Missense_Mutation_p.S389T|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.3_Missense_Mutation_p.S283T|ZNF638_uc002shz.3_Missense_Mutation_p.S283T|ZNF638_uc002shy.3_Missense_Mutation_p.S283T|ZNF638_uc002sia.3_Missense_Mutation_p.S283T|ZNF638_uc002sib.1_Missense_Mutation_p.S283T	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	283					RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding	p.R282L(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CAATAATCGGTCCTTTTTCTC	0.428													58	115					0	0	1	0	0	A	71576931	T	A	71576931	3	1	211	1	0	0	0	0	1	0	0	0	18052	1667	58	5	849	5	ZNF638	2	71576931	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08	8394273	71576931	171622442	9	9028											
SNRNP200	23020	broad.mit.edu	37	chr2	96962796	96962796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactttggcagcttttccaCtggaagcagttgctagaaga	11	12	10	8	0	0	2	0	0	0	2	1	3	1	3	1	2	4	5	1	2	4	6			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:96962796C>T	uc002svu.3	-	11	1522	c.1390G>A	c.(1390-1392)Gtg>Atg	p.V464M		NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	464						U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						AGCTTTTCCACTGGAAGCAGT	0.483													28	42					0	0	1	0	0	T	96962796	C	T	96962796	3	4	211	1	0	0	0	0	1	0	0	0	14852	565	20	3	5156	3	SNRNP200	2	96962796	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	25385865	96962796	146236577	10	9029											
CNGA3	1261	broad.mit.edu	37	chr2	98999852	98999852	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctctaccttcccgcagcGcctggcccctggccaaatgc	5	9	8	19	2	2	0	0	0	2	0	4	0	3	0	6	2	3	1	6	2	2	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:98999852G>A	uc010fij.3	+	5	549	c.408_splice	c.e5-1	p.S136_splice	CNGA3_uc002syt.3_Splice_Site_p.S132_splice|CNGA3_uc002syu.3_Intron			Q16281	CNGA3_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 3 (CNGA3), transcript variant 1, mRNA.	132					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TTCCCGCAGCGCCTGGCCCCT	0.587													20	54					0	0	1	0	0	A	98999852	G	A	98999852	5	1	211	1	0	0	0	0	0	0	1	0	3598	1101	38	1	411	1	CNGA3	2	98999852	Splice_Site	SNP	G	TCGA-HT-7860-01A-11D-2395-08	2037056	98999852	144199521	11	9030											
TTN	7273	broad.mit.edu	37	chr2	179577501	179577501	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtatattctccactttgtGatgtatctacatcgaacaac	13	14	5	9	1	2	1	0	1	2	0	4	2	2	1	1	0	3	2	1	0	7	6			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:179577501G>T	uc021vsy.1	-	90	23744	c.23519C>A	c.(23518-23520)tCa>tAa	p.S7840*	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.S4501*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8767	Ig-like 60.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R7840H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCACTTTGTGATGTATCTAC	0.423													13	38					2.68362e-12	2.75243e-12	1	1	0	T	179577501	G	T	179577501	4	4	211	1	0	0	0	0	0	1	0	0	16732	1294	45	5	77354	5	TTN	2	179577501	Nonsense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	80577649	179577501	63621872	12	9031											
SPEG	10290	broad.mit.edu	37	chr2	220299748	220299748	+	Frame_Shift_Del	DEL	C	C	-																															aggatgcgggcacgagggcaCcccccagccccggagtgccc																										TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:220299748delC	uc010fwg.3	+	0	49	c.49delC	c.(49-51)cccfs	p.P17fs	SPEG_uc002vlm.3_5'Flank	NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	17					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CACGAGGGCACCCCCCAGCCC	0.766													2	4	---	---	---	---						-	220299748	C	-	220299748	7	5	211	1	0	1	0	1	0	0	0	0	15035	507	18	0	51	0	SPEG	2	220299748	Frame_Shift_Del	DEL	C	TCGA-HT-7860-01A-11D-2395-08	40722247	220299748	22899625	13	9032											
IQCF1	132141	broad.mit.edu	37	chr3	51929217	51929217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcttggacagtatcagccGccaccagcactgaatgatgc	12	8	9	12	1	2	2	1	2	1	0	2	3	2	3	3	1	3	2	3	1	3	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr3:51929217G>A	uc003dbv.3	-	3	405	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	IQCF1_uc003dbq.4_Intron	NM_152397	NP_689610	Q8N6M8	IQCF1_HUMAN	Homo sapiens IQ motif containing F1 (IQCF1), mRNA.	103										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGTATCAGCCGCCACCAGCAC	0.637													59	82					0	0	1	0	0	A	51929217	G	A	51929217	3	1	211	1	0	0	0	0	1	0	0	0	7807	1086	38	1	314	1	IQCF1	3	51929217	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08		51929217	146093213	14	9033											
ST3GAL6	10402	broad.mit.edu	37	chr3	98503881	98503881	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgactcctatgatgtaataaTaaggtaaatatattttctat	15	16	5	5	1	1	1	0	1	1	0	2	2	2	1	1	1	0	2	1	1	9	10			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr3:98503881T>A	uc003dtc.3	+	6	895	c.428T>A	c.(427-429)aTa>aAa	p.I143K	ST3GAL6_uc003dsy.3_Missense_Mutation_p.I57K|ST3GAL6_uc003dsz.3_Missense_Mutation_p.I143K|ST3GAL6_uc003dta.3_Intron|ST3GAL6_uc010hpd.3_Missense_Mutation_p.I196K	NM_006100	NP_006091	Q9Y274	SIA10_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 6 (ST3GAL6), mRNA.	143					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						GATGTAATAATAAGGTAAATA	0.348													14	24					0	0	1	0	0	A	98503881	T	A	98503881	3	1	211	1	0	0	0	0	1	0	0	0	15218	1406	49	5	446	5	ST3GAL6	3	98503881	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08	46574664	98503881	99518549	15	9034											
TRIM42	287015	broad.mit.edu	37	chr3	140401985	140401985	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctcactcttcagcgccatCgccaagttcaaagcaggtcc	9	8	8	16	2	4	0	3	0	1	0	6	0	5	0	4	1	2	2	4	1	2	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr3:140401985C>T	uc003eto.2	+	1	1229	c.1023C>T	c.(1021-1023)atC>atT	p.I341I		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	341						intracellular	zinc ion binding	p.A340T(1)|p.A340A(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCAGCGCCATCGCCAAGTTCA	0.542													21	54					0	0	1	0	0	T	140401985	C	T	140401985	2	4	211	1	0	0	0	0	0	0	0	1	16514	874	31	2		2	TRIM42	3	140401985	Silent	SNP	C	TCGA-HT-7860-01A-11D-2395-08	41898104	140401985	57620445	16	9035											
PCDH7	5099	broad.mit.edu	37	chr4	30725552	30725552	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccacgactctggtgcaCgtgtttgtcaatgaaagtgt	9	12	10	10	2	2	1	1	1	1	0	3	2	3	1	2	1	1	2	2	1	2	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr4:30725552C>A	uc003gsk.1	+	0	3516	c.2508C>A	c.(2506-2508)caC>caA	p.H836Q	PCDH7_uc011bxx.2_Missense_Mutation_p.H836Q|PCDH7_uc021xnd.1_Missense_Mutation_p.H836Q|PCDH7_uc021xnc.1_Missense_Mutation_p.H836Q	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	836	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CTCTGGTGCACGTGTTTGTCA	0.493													24	33					3.10358e-05	3.12966e-05	1	1	0	A	30725552	C	A	30725552	3	1	211	1	0	0	0	0	1	0	0	0	11516	535	19	5	2510	5	PCDH7	4	30725552	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08		30725552	160428724	17	9036											
SPEF2	79925	broad.mit.edu	37	chr5	35697831	35697831	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttggtgcaaaatcagaacagTtgctgaagaaaggaaagagc	17	7	12	5	0	1	4	1	1	0	3	1	5	1	5	0	2	4	3	0	2	6	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr5:35697831T>C	uc003jjo.3	+	14	2188	c.2077T>C	c.(2077-2079)Ttg>Ctg	p.L693L	SPEF2_uc003jjq.4_Silent_p.L688L|SPEF2_uc003jjp.1_Silent_p.L179L	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	693					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATCAGAACAGTTGCTGAAGAA	0.353													23	43					0	0	1	0	0	C	35697831	T	C	35697831	2	2	211	1	0	0	0	0	0	0	0	1	15034	1722	60	3		3	SPEF2	5	35697831	Silent	SNP	T	TCGA-HT-7860-01A-11D-2395-08		35697831	145217429	18	9037											
PPIP5K2	23262	broad.mit.edu	37	chr5	102513667	102513667	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catctggctatggatatagaCcagcttccagagaggtaatg	12	10	11	8	0	1	2	0	0	1	2	2	4	2	3	2	3	1	3	2	3	4	5			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr5:102513667C>G	uc003kod.4	+	22	3259	c.2740C>G	c.(2740-2742)Cca>Gca	p.P914A	PPIP5K2_uc011cva.2_Non-coding_Transcript|PPIP5K2_uc003koe.3_Missense_Mutation_p.P914A|PPIP5K2_uc003kof.3_Missense_Mutation_p.P215A	NM_015216	NP_056031	O43314	VIP2_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 2 (PPIP5K2), mRNA.	914					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGGATATAGACCAGCTTCCAG	0.378													21	76					0	0	1	0	0	G	102513667	C	G	102513667	3	3	211	1	0	0	0	0	1	0	0	0	12333	507	18	5	2826	5	PPIP5K2	5	102513667	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	66815836	102513667	78401593	19	9038											
APBB3	10307	broad.mit.edu	37	chr5	139941733	139941733	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggatgtgcaccagaggcTggcagtggatcagactgtgg	9	7	16	9	1	1	2	1	0	0	2	1	4	1	4	1	5	1	3	1	5	0	0			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr5:139941733T>A	uc021yeh.1	-	5	937	c.578A>T	c.(577-579)cAg>cTg	p.Q193L	APBB3_uc003lgb.1_5'UTR|APBB3_uc003lgc.1_5'UTR|APBB3_uc003lgd.1_Missense_Mutation_p.Q193L|APBB3_uc010jfp.1_Non-coding_Transcript|APBB3_uc011czi.1_5'UTR|APBB3_uc003lge.1_Missense_Mutation_p.Q193L|APBB3_uc021yeg.1_Missense_Mutation_p.Q193L|APBB3_uc003lgf.1_Non-coding_Transcript|APBB3_uc010jfq.1_5'Flank|SLC35A4_uc003lgg.1_5'Flank|SLC35A4_uc003lgh.1_5'Flank	NM_133173	NP_573419	O95704	APBB3_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 3 (APBB3), transcript variant 2, mRNA.	193	PID 1.					actin cytoskeleton|cytoplasm				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCAGAGGCTGGCAGTGGAT	0.602													28	53					0	0	1	0	0	A	139941733	T	A	139941733	3	1	211	1	0	0	0	0	1	0	0	0	762	1580	55	5	931	5	APBB3	5	139941733	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08	37428066	139941733	40973527	20	9039											
PCDHGC5	56097	broad.mit.edu	37	chr5	140869027	140869027	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctctgaggagaatgggcgcTatttttccctgagcttgatg	7	13	13	8	1	1	4	0	3	1	1	2	5	2	4	1	2	1	3	1	2	2	4			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr5:140869027T>C	uc003lla.2	+	0	220	c.220T>C	c.(220-222)Tat>Cat	p.Y74H	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc003lky.2_Intron|PCDHGC5_uc011dbc.2_Missense_Mutation_p.Y74H	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 5 (PCDHGC5), transcript variant 1, mRNA.	74	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATGGGCGCTATTTTTCCCT	0.562													56	57					0	0	1	0	0	C	140869027	T	C	140869027	3	2	211	1	0	0	0	0	1	0	0	0	11571	1522	53	4	222	4	PCDHGC5	5	140869027	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08	927294	140869027	40046233	21	9040											
CD74	972	broad.mit.edu	37	chr5	149782733	149782733	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgttggggacctccgtgccGttggggaagacacaccagca	8	7	15	11	2	0	1	0	0	0	1	1	3	1	3	4	4	2	3	4	4	1	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr5:149782733G>A	uc003lsc.3	-	6	955	c.768C>T	c.(766-768)aaC>aaT	p.N256N	CD74_uc003lsd.3_Intron|CD74_uc003lse.3_Intron	NM_001025159	NP_001020330	P04233	HG2A_HUMAN	Homo sapiens CD74 molecule, major histocompatibility complex, class II invariant chain (CD74), transcript variant 1, mRNA.	256	Thyroglobulin type-1.				antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	Golgi apparatus|endoplasmic reticulum membrane|integral to membrane|lysosome|receptor complex	MHC class II protein binding|beta-amyloid binding|cytokine receptor activity|identical protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCCGTGCCGTTGGGGAAGA	0.597			T	ROS1	NSCLC								22	66					0	0	1	0	0	A	149782733	G	A	149782733	2	1	211	1	0	0	0	0	0	0	0	1	3035	1136	40	1		1	CD74	5	149782733	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08	8913706	149782733	31132527	22	9041											
HAVCR1	26762	broad.mit.edu	37	chr5	156476111	156476111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttattgctccctgcagtgtcGtagggtgggtttctgctggc	3	15	14	9	1	1	0	0	0	1	0	3	0	2	0	1	3	3	5	1	3	2	4			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr5:156476111G>A	uc010jij.1	-	4	904	c.719C>T	c.(718-720)aCg>aTg	p.T240M	HAVCR1_uc011ddl.1_Missense_Mutation_p.T71M|HAVCR1_uc003lwi.2_Missense_Mutation_p.T240M|HAVCR1_uc021ygj.1_Missense_Mutation_p.T240M|HAVCR1_uc021ygk.1_Missense_Mutation_p.T71M	NM_001099414	NP_036338	Q96D42	HAVR1_HUMAN	Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA.	235					interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGCAGTGTCGTAGGGTGGGT	0.483													47	91					0	0	1	0	0	A	156476111	G	A	156476111	3	1	211	1	0	0	0	0	1	0	0	0	6973	1145	40	1	395	1	HAVCR1	5	156476111	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	6693378	156476111	24439149	23	9042											
PWWP2A	114825	broad.mit.edu	37	chr5	159546021	159546022	+	Frame_Shift_Ins	INS	-	-	G																															cctcgcgctcctcgggagccINSgggggctgctccggcggcga																										TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr5:159546021_159546022insG	uc011ded.2	-	0	431_432	c.374_375insC	c.(373-375)ccgfs	p.P125fs	PWWP2A_uc003lxv.4_Frame_Shift_Ins_p.P125fs|PWWP2A_uc011dec.2_Frame_Shift_Ins_p.P125fs	NM_001130864	NP_001124336	Q96N64	PWP2A_HUMAN	Homo sapiens PWWP domain containing 2A (PWWP2A), transcript variant 2, mRNA.	125	Pro-rich.									kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTCGGGAGCCGGGGGCTGCTC	0.748													14	37	---	---	---	---						G	159546022	-	G	159546021	7	5	211	1	0	1	1	0	0	0	0	0	12845	639	23	0	2042	0	PWWP2A	5	159546021	Frame_Shift_Ins	INS	-	TCGA-HT-7860-01A-11D-2395-08	3069910	159546021	21369239	24	9043											
TFAP2D	83741	broad.mit.edu	37	chr6	50683145	50683145	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttattaacctgcacaatgCgcgggcgctcaagtcgtcct	8	11	9	13	4	1	0	1	0	0	0	3	0	2	0	2	1	3	2	2	1	4	3			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr6:50683145C>A	uc003paf.3	+	1	868	c.356C>A	c.(355-357)gCg>gAg	p.A119E	TFAP2D_uc011dwt.2_Non-coding_Transcript	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.	119							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CTGCACAATGCGCGGGCGCTC	0.622													58	105					6.60958e-23	7.01902e-23	1	1	0	A	50683145	C	A	50683145	3	1	211	1	0	0	0	0	1	0	0	0	15787	768	27	5	362	5	TFAP2D	6	50683145	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08		50683145	120431922	25	9044											
MACC1	346389	broad.mit.edu	37	chr7	20198442	20198442	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatagcctggcagattcgaGagtctttttaggtttggggt	9	14	13	5	1	1	2	0	0	1	2	2	3	1	2	1	4	1	2	1	4	3	6	rs149661432	by1000genomes	TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr7:20198442G>T	uc003sus.4	-	4	1851	c.1542C>A	c.(1540-1542)ctC>ctA	p.L514L	MACC1_uc010kug.3_Silent_p.L514L	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	514					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GCAGATTCGAGAGTCTTTTTA	0.393													53	129					4.17463e-26	4.47282e-26	1	1	0	T	20198442	G	T	20198442	2	4	211	1	0	0	0	0	0	0	0	1	9143	929	33	5		5	MACC1	7	20198442	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08		20198442	138940221	26	9045											
KEL	3792	broad.mit.edu	37	chr7	142658923	142658923	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattccacctgcctggctgcGttccctcggctcttcctcac	3	12	7	19	2	2	0	1	0	1	0	6	0	5	0	5	2	2	3	5	2	0	3			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr7:142658923G>A	uc003wcb.3	-	1	250	c.40C>T	c.(40-42)Cgc>Tgc	p.R14C		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	14					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.E13K(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCCTGGCTGCGTTCCCTCGGC	0.542													107	346					0	0	1	0	0	A	142658923	G	A	142658923	3	1	211	1	0	0	0	0	1	0	0	0	8142	1145	40	1	2230	1	KEL	7	142658923	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	122460481	142658923	16479740	27	9046											
NOBOX	135935	broad.mit.edu	37	chr7	144096940	144096940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttcgccacttggcccggCgattctggaaccacacctat	7	12	8	14	3	1	0	0	0	1	0	2	2	1	1	4	3	1	0	4	3	2	5			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr7:144096940C>T	uc022aoj.1	-	5	1064	c.1064G>A	c.(1063-1065)cGc>cAc	p.R355H		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	355			R -> H (in POF5).		cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CTTGGCCCGGCGATTCTGGAA	0.542													10	24					0	0	1	0	0	T	144096940	C	T	144096940	3	4	211	1	0	0	0	0	1	0	0	0	10512	768	27	1	1031	1	NOBOX	7	144096940	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	1438017	144096940	15041723	28	9047											
MSR1	4481	broad.mit.edu	37	chr8	16026364	16026364	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcaattcttcgtttccCacttcaggagttgagctgta	8	14	9	10	1	2	2	1	2	1	0	4	3	3	3	1	1	2	5	1	1	2	6			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr8:16026364C>T	uc010lsu.3	-	3	351	c.287G>A	c.(286-288)tGg>tAg	p.W96*	MSR1_uc003wwz.3_Nonsense_Mutation_p.W78*|MSR1_uc003wxa.3_Nonsense_Mutation_p.W78*|MSR1_uc003wxb.3_Nonsense_Mutation_p.W78*|MSR1_uc011kxz.2_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	78	Spacer (Probable).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CTTCGTTTCCCACTTCAGGAG	0.388													25	53					0	0	1	0	0	T	16026364	C	T	16026364	4	4	211	1	0	0	0	0	0	1	0	0	9886	595	21	3	1198	3	MSR1	8	16026364	Nonsense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08		16026364	130337658	29	9048											
PSD3	23362	broad.mit.edu	37	chr8	18490301	18490301	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttctgagggagactttttTttctcttcatcatctctaaa	8	19	5	9	0	5	2	2	1	3	1	7	3	5	2	0	1	0	0	0	1	2	7	rs142080320		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr8:18490301T>C	uc003wza.3	-	10	2335	c.2232A>G	c.(2230-2232)aaA>aaG	p.K744K	PSD3_uc003wyx.4_Silent_p.K73K|PSD3_uc003wyy.3_Silent_p.K210K|PSD3_uc003wyz.3_Silent_p.K45K	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	745					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GAGACTTTTTTTTCTCTTCAT	0.358													21	24					0	0	1	0	0	C	18490301	T	C	18490301	2	2	211	1	0	0	0	0	0	0	0	1	12648	1838	64	3		3	PSD3	8	18490301	Silent	SNP	T	TCGA-HT-7860-01A-11D-2395-08	2463937	18490301	127873721	30	9049											
TNFRSF10C	8794	broad.mit.edu	37	chr8	22969288	22969288	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagttccccagcagacagTggccccacagcaacagaggc	12	3	12	14	0	0	2	0	0	0	2	1	3	1	3	4	3	3	3	4	3	2	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr8:22969288T>C	uc003xcy.3	+	1	424	c.116T>C	c.(115-117)gTg>gCg	p.V39A	TNFRSF10C_uc011kzr.2_Intron	NM_003841	NP_003832	O14798	TR10C_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain (TNFRSF10C), mRNA.	39					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CAGCAGACAGTGGCCCCACAG	0.507													26	47					0	0	1	0	0	C	22969288	T	C	22969288	3	2	211	1	0	0	0	0	1	0	0	0	16279	1696	59	3	122	3	TNFRSF10C	8	22969288	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08	4478987	22969288	123394734	31	9050											
GPR124	25960	broad.mit.edu	37	chr8	37686441	37686441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcatcagcacagtgcagcCgggcgccttcctgggcctgg	6	7	13	15	2	2	0	2	0	0	0	3	0	3	0	4	3	3	2	4	3	0	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr8:37686441C>T	uc003xkj.3	+	2	760	c.374C>T	c.(373-375)cCg>cTg	p.P125L	GPR124_uc003xki.3_Missense_Mutation_p.P125L|GPR124_uc010lvy.3_Missense_Mutation_p.P125L	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.	125					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G125G(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			ACAGTGCAGCCGGGCGCCTTC	0.682													37	65					0	0	1	0	0	T	37686441	C	T	37686441	3	4	211	1	0	0	0	0	1	0	0	0	6638	652	23	2	363	2	GPR124	8	37686441	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	14717153	37686441	108677581	32	9051											
ANKRD20A3	441425	broad.mit.edu	37	chr9	42368597	42368597	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggagcggagacctggaCgccctggacaagcagcacag	11	2	15	13	3	0	1	0	0	0	1	0	5	0	4	2	4	3	3	2	4	1	0			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr9:42368597C>T	uc004acd.3	+	0	295	c.183C>T	c.(181-183)gaC>gaT	p.D61D	ANKRD20A3_uc010mmv.3_Silent_p.D61D	NM_001012419	NP_001012421	Q5VUR7	A20A3_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A3 (ANKRD20A3), mRNA.	61																	GAGACCTGGACGCCCTGGACA	0.721													25	147					0	0	1	0	0	T	42368597	C	T	42368597	2	4	211	1	0	0	0	0	0	0	0	1	649	535	19	1		1	ANKRD20A3	9	42368597	Silent	SNP	C	TCGA-HT-7860-01A-11D-2395-08		42368597	98844834	33	9052											
AIFM2	84883	broad.mit.edu	37	chr10	71883202	71883202	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctggttcttcaggtctaTccccactactagcccctgcc	6	12	6	17	0	4	0	1	0	3	0	5	0	5	0	5	2	3	1	5	2	3	5	rs140958169		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr10:71883202T>C	uc010qjg.2	-	1	269	c.253A>G	c.(253-255)Ata>Gta	p.I85V	AIFM2_uc021psi.1_Missense_Mutation_p.I85V|AIFM2_uc001jqp.2_Missense_Mutation_p.I85V	NM_001198696	NP_001185625	Q9BRQ8	AIFM2_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 2 (AIFM2), transcript variant 1, mRNA.	85					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						TTCAGGTCTATCCCCACTACT	0.597													5	73					0	0	1	0	0	C	71883202	T	C	71883202	3	2	211	1	0	0	0	0	1	0	0	0	427	1435	50	3	896	3	AIFM2	10	71883202	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08		71883202	63651545	34	9053											
SFTPA1	653509	broad.mit.edu	37	chr10	81373779	81373779	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgaggggagcccgcaggtcgGggaaaagagcagtgtgtgga	10	4	20	7	3	0	1	0	0	0	1	1	5	0	4	1	6	2	2	1	6	2	0			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr10:81373779G>A	uc009xry.3	+	5	784	c.702G>A	c.(700-702)cgG>cgA	p.R234R	SFTPA1_uc001kap.3_Silent_p.R219R|SFTPA1_uc001kar.3_Silent_p.R219R|SFTPA1_uc001kaq.3_Silent_p.R219R|SFTPA1_uc001kao.3_Silent_p.R185R|SFTPA1_uc021puu.1_Silent_p.R170R|SFTPA1_uc010qlt.2_Silent_p.R160R|SFTPA1_uc009xrz.3_Silent_p.R149R	NM_001093770	NP_005402	Q8IWL2	SFTA1_HUMAN	Homo sapiens surfactant protein A1 (SFTPA1), transcript variant 2, mRNA.	219	C-type lectin.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CCGCAGGTCGGGGAAAAGAGC	0.562													88	78					0	0	1	0	0	A	81373779	G	A	81373779	2	1	211	1	0	0	0	0	0	0	0	1	14189	1219	43	3		3	SFTPA1	10	81373779	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08	9490577	81373779	54160968	35	9054											
PTEN	5728	broad.mit.edu	37	chr10	89717727	89717727	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcagccgttacctgtgtgtgGtgatatcaaagtagagttct	9	14	11	7	1	3	2	2	1	1	1	3	2	3	2	2	1	2	3	2	1	4	4			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr10:89717727G>C	uc001kfb.3	+	6	1784	c.752G>C	c.(751-753)gGt>gCt	p.G251A	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	251	C2 tensin-type.		G -> C (loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		T cell receptor signaling pathway|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 G1/S transition of mitotic cell cycle|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 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	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion 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.0?(37)|p.C250fs*2(6)|p.R55fs*1(5)|p.G251C(4)|p.G251D(4)|p.N212fs*1(2)|p.G251V(2)|p.Y27fs*1(2)|p.G251fs*6(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.C250*(1)|p.C250fs*10(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)		CCTGTGTGTGGTGATATCAAA	0.398		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)			19	20					0	0	1	0	0	C	89717727	G	C	89717727	3	2	211	1	0	0	0	0	1	0	0	0	12738	1261	44	5	778	5	PTEN	10	89717727	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	8343948	89717727	45817020	36	9055											
PKD2L1	9033	broad.mit.edu	37	chr10	102057297	102057297	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaggtagtagccacctccGctgtagcttgtgagcctgcc	6	10	11	14	1	0	1	0	1	0	0	2	1	2	1	6	1	4	5	6	1	3	4			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr10:102057297G>A	uc001kqx.1	-	4	1181	c.798C>T	c.(796-798)agC>agT	p.S266S	PKD2L1_uc009xwm.1_Silent_p.S219S	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN	Homo sapiens polycystic kidney disease 2-like 1 (PKD2L1), transcript variant 1, mRNA.	266					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		AGCCACCTCCGCTGTAGCTTG	0.627													19	25					0	0	1	0	0	A	102057297	G	A	102057297	2	1	211	1	0	0	0	0	0	0	0	1	11967	1078	38	1		1	PKD2L1	10	102057297	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08	12339570	102057297	33477450	37	9056											
MUC6	4588	broad.mit.edu	37	chr11	1025338	1025338	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctccccggtgaccgtgtaGtttctgtccgccagcaccac	5	10	9	17	3	1	1	0	1	1	0	4	1	4	1	7	1	1	3	7	1	1	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr11:1025338G>A	uc001lsw.2	-	22	2880	c.2829C>T	c.(2827-2829)aaC>aaT	p.N943N		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	943	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGACCGTGTAGTTTCTGTCCG	0.677													54	94					0	0	1	0	0	A	1025338	G	A	1025338	2	1	211	1	0	0	0	0	0	0	0	1	9980	1020	36	3		3	MUC6	11	1025338	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08		1025338	133981178	38	9057											
OR8J3	81168	broad.mit.edu	37	chr11	55904779	55904779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccagcaggaggcagagcCgccgagacaccaccaccatg	13	1	11	16	2	0	2	0	0	0	2	0	4	0	3	6	2	2	2	6	2	0	0			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr11:55904779C>T	uc010riz.2	-	0	416	c.416G>A	c.(415-417)cGg>cAg	p.R139Q		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R139L(2)|p.R139Q(2)|p.R139R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GAGGCAGAGCCGCCGAGACAC	0.473													33	78					0	0	1	0	0	T	55904779	C	T	55904779	3	4	211	1	0	0	0	0	1	0	0	0	11242	652	23	2	533	2	OR8J3	11	55904779	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	54879441	55904779	79101737	39	9058											
HSPA8	3312	broad.mit.edu	37	chr11	122928498	122928498	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaccagagggaggagctcCaccaccaggaaatcccccag	13	2	10	16	0	0	1	0	0	0	1	2	4	2	4	7	3	1	1	7	3	1	0			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr11:122928498C>G	uc001pyo.3	-	8	2020	c.1885G>C	c.(1885-1887)Gga>Cga	p.G629R	HSPA8_uc009zbc.3_Missense_Mutation_p.G393R|HSPA8_uc001pyp.3_Missense_Mutation_p.G476R|HSPA8_uc010rzu.2_Missense_Mutation_p.G552R	NM_006597	NP_006588	P11142	HSP7C_HUMAN	Homo sapiens heat shock 70kDa protein 8 (HSPA8), transcript variant 1, mRNA.	629					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GGAGGAGCTCCACCACCAGGA	0.512													52	99					0	0	1	0	0	G	122928498	C	G	122928498	3	3	211	1	0	0	0	0	1	0	0	0	7416	603	21	5	59	5	HSPA8	11	122928498	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	67023719	122928498	12078018	40	9059											
OR10G4	390264	broad.mit.edu	37	chr11	123886716	123886716	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtgccctcctggccacCggcacttggctcagtggctc	4	9	13	15	1	1	0	1	0	0	0	3	0	2	0	4	5	1	3	4	5	0	1	rs144654389	byFrequency	TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr11:123886716C>T	uc010sac.2	+	0	435	c.435C>T	c.(433-435)acC>acT	p.T145T		NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 4 (OR10G4), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TCCTGGCCACCGGCACTTGGC	0.547													95	182					0	0	1	0	0	T	123886716	C	T	123886716	2	4	211	1	0	0	0	0	0	0	0	1	10901	639	23	2		2	OR10G4	11	123886716	Silent	SNP	C	TCGA-HT-7860-01A-11D-2395-08	958218	123886716	11119800	41	9060											
ATF7IP	55729	broad.mit.edu	37	chr12	14576907	14576907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctcgaaaaacgatgagaGtgagtgatcgtcagcaactt	14	8	12	7	3	1	3	1	3	0	1	3	6	1	3	0	1	3	2	0	1	3	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:14576907G>A	uc001rbw.3	+	1	216	c.58G>A	c.(58-60)Gtg>Atg	p.V20M	ATF7IP_uc010shs.1_Missense_Mutation_p.V20M|ATF7IP_uc001rbu.3_Missense_Mutation_p.V20M|ATF7IP_uc001rbv.1_Missense_Mutation_p.V20M|ATF7IP_uc001rbx.3_Missense_Mutation_p.V20M|ATF7IP_uc010sht.1_Missense_Mutation_p.V20M|ATF7IP_uc001rby.4_Missense_Mutation_p.V20M|ATF7IP_uc001rbz.1_Missense_Mutation_p.V20M|ATF7IP_uc001rca.3_Missense_Mutation_p.V20M|ATF7IP_uc001rcb.3_5'Flank	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	20					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AACGATGAGAGTGAGTGATCG	0.358													20	50					0	0	1	0	0	A	14576907	G	A	14576907	3	1	211	1	0	0	0	0	1	0	0	0	1087	1029	36	3	60	3	ATF7IP	12	14576907	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08		14576907	119274988	42	9061											
ARHGDIB	397	broad.mit.edu	37	chr12	15103604	15103604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgctgtccagctcatcatCatcatcctcctccacatgtg	7	13	5	16	0	4	0	4	0	0	0	8	0	8	0	4	0	2	2	4	0	0	1	rs149654565		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:15103604C>T	uc001rcq.1	-	1	147	c.43G>A	c.(43-45)Gat>Aat	p.D15N		NM_001175	NP_001166	P52566	GDIR2_HUMAN	Homo sapiens Rho GDP dissociation inhibitor (GDI) beta (ARHGDIB), mRNA.	15					Rho protein signal transduction|actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						AGCTCATCATCATCATCCTCC	0.438													39	59					0	0	1	0	0	T	15103604	C	T	15103604	3	4	211	1	0	0	0	0	1	0	0	0	891	826	29	3	582	3	ARHGDIB	12	15103604	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	526697	15103604	118748291	43	9062											
ABCC9	10060	broad.mit.edu	37	chr12	22001088	22001088	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaaaagatctaccttcGtcttcgtcctccatctgggc	11	11	7	12	2	3	2	0	0	3	2	7	2	5	2	3	1	1	0	3	1	5	3	rs2291550	by1000genomes	TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:22001088G>A	uc001rfh.3	-	22	2882	c.2862C>T	c.(2860-2862)gaC>gaT	p.D954D	ABCC9_uc001rfi.1_Silent_p.D954D	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	954					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.D954N(1)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATCTACCTTCGTCTTCGTCCT	0.433													24	32					0	0	1	0	0	A	22001088	G	A	22001088	2	1	211	1	0	0	0	0	0	0	0	1	59	1136	40	1		1	ABCC9	12	22001088	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08	6897484	22001088	111850807	44	9063											
ACVRL1	94	broad.mit.edu	37	chr12	52309035	52309035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcctcagacatgacctccCgcaactcgagcacgcagctg	9	6	9	17	4	1	2	1	1	0	1	4	3	2	2	3	0	3	4	3	0	1	0	rs148640185		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:52309035C>T	uc001rzj.3	+	6	1082	c.799C>T	c.(799-801)Cgc>Tgc	p.R267C	ACVRL1_uc001rzk.3_Missense_Mutation_p.R267C|ACVRL1_uc010snm.2_Missense_Mutation_p.R93C	NM_000020	NP_001070869	P37023	ACVL1_HUMAN	Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	267	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of DNA replication|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	ATP binding|SMAD binding|activin binding|activin receptor activity, type I|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CATGACCTCCCGCAACTCGAG	0.612													18	62					0	0	1	0	0	T	52309035	C	T	52309035	3	4	211	1	0	0	0	0	1	0	0	0	225	652	23	2	821	2	ACVRL1	12	52309035	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	30307947	52309035	81542860	45	9064											
KRT83	3889	broad.mit.edu	37	chr12	52714809	52714809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgcttcacgcactgcGcgttggggtctatctccagg	4	11	11	15	3	3	0	1	0	2	0	5	0	4	0	3	3	2	3	3	3	1	3			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:52714809G>A	uc001saf.2	-	0	374	c.311C>T	c.(310-312)gCg>gTg	p.A104V		NM_002282	NP_002273	P78385	KRT83_HUMAN	Homo sapiens keratin 83 (KRT83), mRNA.	104	Head.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CACGCACTGCGCGTTGGGGTC	0.627													105	180					0	0	1	0	0	A	52714809	G	A	52714809	3	1	211	1	0	0	0	0	1	0	0	0	8497	1087	38	1	1206	1	KRT83	12	52714809	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	405774	52714809	81137086	46	9065											
SART3	9733	broad.mit.edu	37	chr12	108919286	108919286	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtccttcacggtgccaTgagccttacagatttcttct	7	14	9	11	1	3	3	1	2	2	1	4	3	4	3	3	2	3	0	3	2	1	4			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:108919286T>C	uc001tmz.1	-	16	2706	c.2471A>G	c.(2470-2472)cAt>cGt	p.H824R	SART3_uc001tmy.1_Missense_Mutation_p.H350R|SART3_uc009zux.1_Missense_Mutation_p.H436R|SART3_uc010swx.1_Missense_Mutation_p.H788R	NM_014706	NP_055521	Q15020	SART3_HUMAN	Homo sapiens squamous cell carcinoma antigen recognized by T cells 3 (SART3), mRNA.	824	RRM 2.				RNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|protein binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						CACGGTGCCATGAGCCTTACA	0.507									Porokeratosis				22	56					0	0	1	0	0	C	108919286	T	C	108919286	3	2	211	1	0	0	0	0	1	0	0	0	13847	1464	51	3	432	3	SART3	12	108919286	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08	56204477	108919286	24932609	47	9066											
PTPN11	5781	broad.mit.edu	37	chr12	112888199	112888199	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtatggaggggagaaatttgCcactttggctgagttggtcc	8	12	15	6	0	0	2	0	1	0	1	1	4	1	3	2	5	1	3	2	5	2	4	rs121918454		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:112888199C>A	uc001ttx.3	+	2	595	c.215C>A	c.(214-216)gCc>gAc	p.A72D	PTPN11_uc001ttw.1_Missense_Mutation_p.A72D	NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	72	SH2 1.		A -> G (in NS1).|A -> S (in NS1).|A -> T (in JMML).|A -> V (in JMML).		T cell costimulation|axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.A72V(74)|p.A72T(33)|p.F71L(7)|p.A72D(6)|p.F71K(2)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GAGAAATTTGCCACTTTGGCT	0.418			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome				42	78					2.95478e-19	3.08325e-19	1	1	0	A	112888199	C	A	112888199	3	1	211	1	0	0	0	0	1	0	0	0	12780	739	26	5	225	5	PTPN11	12	112888199	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	3968913	112888199	20963696	48	9067											
MORN3	283385	broad.mit.edu	37	chr12	122091089	122091089	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccttcaaacagctggccGtggtccagatggaagaaacg	13	6	12	10	2	1	2	1	0	0	2	2	3	2	3	3	3	4	1	3	3	4	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:122091089G>A	uc001uax.3	-	3	711	c.540C>T	c.(538-540)caC>caT	p.H180H	MORN3_uc001uay.3_Intron	NM_173855	NP_776254	Q6PF18	MORN3_HUMAN	Homo sapiens MORN repeat containing 3 (MORN3), mRNA.	180										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		ACAGCTGGCCGTGGTCCAGAT	0.607													30	70					0	0	1	0	0	A	122091089	G	A	122091089	2	1	211	1	0	0	0	0	0	0	0	1	9709	1136	40	1		1	MORN3	12	122091089	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08	9202890	122091089	11760806	49	9068											
FANCM	57697	broad.mit.edu	37	chr14	45623200	45623200	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggttatgaattattgcagcaAatgggaatgagatcattata	15	13	10	3	0	1	2	1	2	0	1	1	4	1	3	0	2	2	3	0	2	7	5			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr14:45623200A>G	uc001wwd.4	+	5	1227	c.1128A>G	c.(1126-1128)caA>caG	p.Q376Q	FANCM_uc001wwc.2_Silent_p.Q376Q|FANCM_uc010anf.3_Silent_p.Q350Q|FANCM_uc001wwe.4_5'Flank	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	376					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TATTGCAGCAAATGGGAATGA	0.284								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				29	66					0	0	1	0	0	G	45623200	A	G	45623200	2	3	211	1	0	0	0	0	0	0	0	1	5671	11	1	3		3	FANCM	14	45623200	Silent	SNP	A	TCGA-HT-7860-01A-11D-2395-08		45623200	61726340	50	9069											
HEXA	3073	broad.mit.edu	37	chr15	72638890	72638891	+	Frame_Shift_Del	DEL	TA	TA	-																															tcaaatgccaggggttccacTatgtagaaatccttccagtc																										TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr15:72638890_72638891delTA	uc002aun.4	-	10	1514_1515	c.1307_1308delTA	c.(1306-1308)atafs	p.I436fs	BC034424_uc002aug.3_Non-coding_Transcript|CELF6_uc002auk.3_Intron|HEXA_uc010ukn.2_Frame_Shift_Del_p.I447fs|HEXA_uc010bix.3_Frame_Shift_Del_p.I436fs|HEXA_uc010biy.2_Frame_Shift_Del_p.I299fs|HEXA_uc010uko.1_Frame_Shift_Del_p.I262fs	NM_000520	NP_000511	P06865	HEXA_HUMAN	Homo sapiens hexosaminidase A (alpha polypeptide) (HEXA), mRNA.	436			I -> V (in dbSNP:rs1800431).		cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity	p.Y435Y(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						GGGGTTCCACTATGTAGAAATC	0.579													9	257	---	---	---	---						-	72638891	TA	-	72638890	7	5	211	1	0	1	0	1	0	0	0	0	7073	1512	53	0	297	0	HEXA	15	72638890	Frame_Shift_Del	DEL	TA	TCGA-HT-7860-01A-11D-2395-08		72638890	29892502	51	9070											
HCN4	10021	broad.mit.edu	37	chr15	73616057	73616057	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtggtgggtgagggctaTggccacagaagtggtggcag	8	7	21	5	0	0	2	0	1	0	1	0	2	0	2	1	7	0	2	1	7	2	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr15:73616057T>C	uc002avp.3	-	7	3371	c.2377A>G	c.(2377-2379)Ata>Gta	p.I793V		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	793					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GTGAGGGCTATGGCCACAGAA	0.697													19	28					0	0	1	0	0	C	73616057	T	C	73616057	3	2	211	1	0	0	0	0	1	0	0	0	6999	1464	51	3	1238	3	HCN4	15	73616057	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08	977167	73616057	28915335	52	9071											
ADAMTS17	170691	broad.mit.edu	37	chr15	100657167	100657167	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcagggcaggttctcgcaGaccgcatgttctacactggc	7	8	14	12	2	2	1	0	0	2	1	3	1	2	1	1	4	1	6	1	4	1	3			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr15:100657167G>A	uc002bvv.1	-	12	1852	c.1773C>T	c.(1771-1773)gtC>gtT	p.V591V	ADAMTS17_uc002bvx.1_Silent_p.V348V	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	591	TSP type-1 1.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GGTTCTCGCAGACCGCATGTT	0.627													18	27					0	0	1	0	0	A	100657167	G	A	100657167	2	1	211	1	0	0	0	0	0	0	0	1	262	929	33	3		3	ADAMTS17	15	100657167	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08	27041110	100657167	1874225	53	9072											
TNRC6A	27327	broad.mit.edu	37	chr16	24817937	24817937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcaaatgatgcaacaatctCgtcaacttgatccaaacctg	15	9	6	11	1	2	2	1	2	1	0	4	2	3	2	2	0	5	2	2	0	5	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr16:24817937C>T	uc002dmm.3	+	16	4486	c.4372C>T	c.(4372-4374)Cgt>Tgt	p.R1458C	TNRC6A_uc010bxs.3_Missense_Mutation_p.R1205C|TNRC6A_uc002dmn.3_Missense_Mutation_p.R1156C|TNRC6A_uc002dmo.3_Missense_Mutation_p.R1097C|TNRC6A_uc002dmp.3_Missense_Mutation_p.R59C|TNRC6A_uc002dmq.3_Missense_Mutation_p.R125C	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	1458					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GCAACAATCTCGTCAACTTGA	0.443													44	71					0	0	1	0	0	T	24817937	C	T	24817937	3	4	211	1	0	0	0	0	1	0	0	0	16337	884	31	2	4438	2	TNRC6A	16	24817937	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08		24817937	65536816	54	9073											
KCTD19	146212	broad.mit.edu	37	chr16	67327473	67327473	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggtcctctgcttgctcCagtccttcagggtgccagct	3	13	10	15	0	2	0	1	0	1	0	5	0	5	0	5	2	4	3	5	2	0	3			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr16:67327473C>T	uc002esu.2	-	11	2243	c.2192G>A	c.(2191-2193)tGg>tAg	p.W731*	KCTD19_uc002est.2_Nonsense_Mutation_p.W503*|KCTD19_uc010vjj.1_Nonsense_Mutation_p.W474*	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	731						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CTGCTTGCTCCAGTCCTTCAG	0.547													13	158					0	0	1	0	0	T	67327473	C	T	67327473	4	4	211	1	0	0	0	0	0	1	0	0	8106	595	21	3	608	3	KCTD19	16	67327473	Nonsense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	42509536	67327473	23027280	55	9074											
PKD1L2	114780	broad.mit.edu	37	chr16	81155301	81155301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggaggctctgcagggccgCgtgcgtaaaaaaggtgcctg	8	6	17	10	4	1	0	0	0	1	0	1	1	1	1	2	4	3	3	2	4	3	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr16:81155301C>T	uc002fgh.1	-	39	6496	c.6496G>A	c.(6496-6498)Gcg>Acg	p.A2166T	PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	2168					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGCAGGGCCGCGTGCGTAAAA	0.597													4	14					0	0	1	0	0	T	81155301	C	T	81155301	3	4	211	1	0	0	0	0	1	0	0	0	11965	768	27	1	901	1	PKD1L2	16	81155301	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	13827828	81155301	9199452	56	9075											
PKD1L2	114780	broad.mit.edu	37	chr16	81171126	81171126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaccagtgcaaagaaagcagCgaatcccagcacctgaaaaa	18	3	9	11	1	0	2	0	1	0	1	1	4	1	2	3	0	4	3	3	0	5	0			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr16:81171126C>T	uc002fgh.1	-	33	5632	c.5632G>A	c.(5632-5634)Gct>Act	p.A1878T	PKD1L2_uc002fgf.1_5'Flank|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1879					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AAGAAAGCAGCGAATCCCAGC	0.577													7	10					0	0	1	0	0	T	81171126	C	T	81171126	3	4	211	1	0	0	0	0	1	0	0	0	11965	768	27	1	1787	1	PKD1L2	16	81171126	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	15825	81171126	9183627	57	9076											
MYH8	4626	broad.mit.edu	37	chr17	10318643	10318643	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtcattcctcacagttttgGcattgccaaaggcctccagt	8	13	8	12	0	2	0	2	0	0	0	4	0	4	0	4	2	1	2	4	2	1	4			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr17:10318643G>C	uc002gmm.2	-	7	802	c.707C>G	c.(706-708)gCc>gGc	p.A236G	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	236	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CACAGTTTTGGCATTGCCAAA	0.483									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				57	117					0	0	1	0	0	C	10318643	G	C	10318643	3	2	211	1	0	0	0	0	1	0	0	0	10041	1203	42	5	5238	5	MYH8	17	10318643	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08		10318643	70876567	58	9077											
GRAP	10750	broad.mit.edu	37	chr17	18927576	18927576	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagatctgccgcttcttggcGatggtggtggtgcggtagaa	7	11	16	7	3	2	2	0	0	2	2	2	3	2	2	1	5	2	2	1	5	3	3			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr17:18927576G>A	uc002guy.3	-	3	517	c.420C>T	c.(418-420)atC>atT	p.I140I		NM_006613	NP_006604	Q13588	GRAP_HUMAN	Homo sapiens GRB2-related adaptor protein (GRAP), mRNA.	140	SH2.				Ras protein signal transduction|cell-cell signaling	cytoplasm	SH3/SH2 adaptor activity			large_intestine(1)|urinary_tract(1)	2	all_cancers(12;0.0183)					GCTTCTTGGCGATGGTGGTGG	0.622													6	17					0	0	1	0	0	A	18927576	G	A	18927576	2	1	211	1	0	0	0	0	0	0	0	1	6753	1048	37	2		2	GRAP	17	18927576	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08	8608933	18927576	62267634	59	9078											
NF1	4763	broad.mit.edu	37	chr17	29483060	29483064	+	Frame_Shift_Del	DEL	GGAAT	GGAAT	-																															gtcagtactgagcacaacaaGgaatgtctaatcaatatttc																										TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr17:29483060_29483064delGGAAT	uc002hgg.3	+	1	503_507	c.120_124delGGAAT	c.(118-126)aaggaatgtfs	p.K40fs	NF1_uc002hge.2_Frame_Shift_Del_p.K40fs|NF1_uc002hgf.2_Frame_Shift_Del_p.K40fs|NF1_uc002hgh.3_Frame_Shift_Del_p.K40fs|NF1_uc010csn.2_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	40					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGCACAACAAGGAATGTCTAATCAA	0.332			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			13	32	---	---	---	---						-	29483064	GGAAT	-	29483060	7	5	211	1	0	1	0	1	0	0	0	0	10356	991	35	0	126	0	NF1	17	29483060	Frame_Shift_Del	DEL	GGAAT	TCGA-HT-7860-01A-11D-2395-08	10555484	29483060	51712150	60	9079											
NF1	4763	broad.mit.edu	37	chr17	29664446	29664446	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcattacccaaattttactTgctgtttggcattagcaaag	11	15	6	9	0	1	0	1	0	0	0	1	0	1	0	1	1	4	4	1	1	5	6			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr17:29664446T>A	uc002hgg.3	+	42	6871	c.6488T>A	c.(6487-6489)tTg>tAg	p.L2163*	NF1_uc002hgh.3_Nonsense_Mutation_p.L2142*|NF1_uc010cso.3_Nonsense_Mutation_p.L351*|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2163					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)|p.E2143_S2180del(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAATTTTACTTGCTGTTTGGC	0.423			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			20	36					0	0	1	0	0	A	29664446	T	A	29664446	4	1	211	1	0	0	0	0	0	1	0	0	10356	1821	63	5	6719	5	NF1	17	29664446	Nonsense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08	181386	29664446	51530764	61	9080			1	19		2	2	21	N	T_G	5.491385e-05
NF1	4763	broad.mit.edu	37	chr17	29664466	29664466	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtttggcattagcaaaGtcaagtcagctgctgtcatt	9	14	10	8	0	3	0	3	0	0	0	3	0	3	0	0	1	4	6	0	1	3	3			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr17:29664466G>C	uc002hgg.3	+	42	6891	c.6508G>C	c.(6508-6510)Gtc>Ctc	p.V2170L	NF1_uc002hgh.3_Missense_Mutation_p.V2149L|NF1_uc010cso.3_Missense_Mutation_p.V358L|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2170					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)|p.E2143_S2180del(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CATTAGCAAAGTCAAGTCAGC	0.443			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			26	43					0	0	1	0	0	C	29664466	G	C	29664466	3	2	211	1	0	0	0	0	1	0	0	0	10356	1029	36	5	6739	5	NF1	17	29664466	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	20	29664466	51530744	62	9081			1	19		2	2	21	N	T_G	5.491385e-05
TNFRSF11A	8792	broad.mit.edu	37	chr18	60052048	60052048	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtgatgaacttcaagggCgacatcatcgtggtctacgt	10	10	12	9	3	3	2	2	2	1	0	4	3	3	2	0	3	2	0	0	3	3	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr18:60052048C>T	uc002lin.3	+	9	1670	c.1632C>T	c.(1630-1632)ggC>ggT	p.G544G	TNFRSF11A_uc010dpv.3_Silent_p.G227G	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.	544					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|positive regulation of fever generation by positive regulation of prostaglandin secretion|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				ACTTCAAGGGCGACATCATCG	0.652													10	23					0	0	1	0	0	T	60052048	C	T	60052048	2	4	211	1	0	0	0	0	0	0	0	1	16281	755	27	1		1	TNFRSF11A	18	60052048	Silent	SNP	C	TCGA-HT-7860-01A-11D-2395-08		60052048	18025200	63	9082											
LMNB2	84823	broad.mit.edu	37	chr19	2433894	2433894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcgatgctgacgctacccGaggccgaggcctgctgggcc	5	6	14	16	4	0	1	0	1	0	0	1	4	0	1	5	3	3	3	5	3	1	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:2433894G>A	uc002lvy.3	-	7	1439	c.1352C>T	c.(1351-1353)tCg>tTg	p.S451L		NM_032737	NP_116126	Q03252	LMNB2_HUMAN	Homo sapiens lamin B2 (LMNB2), mRNA.	451	Tail.			LEVEEPLGSGPSVLGTGTGGSGGFHLAQQASASGSVS -> WRWRSPWQRPKRPGHGHGWQRWLPPGPAGLGLGQRH (in Ref. 5; AAA80979).		nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		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)		GACGCTACCCGAGGCCGAGGC	0.667													46	130					0	0	1	0	0	A	2433894	G	A	2433894	3	1	211	1	0	0	0	0	1	0	0	0	8850	1059	37	2	470	2	LMNB2	19	2433894	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08		2433894	56695089	64	9083											
KHSRP	8570	broad.mit.edu	37	chr19	6416895	6416895	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggacctgggggaccactcTgcaagacaagaggaggagga	13	3	17	8	0	1	2	0	0	1	2	1	8	1	7	2	6	1	1	2	6	2	0			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:6416895T>G	uc002mer.4	-	13	1293	c.1183_splice	c.e13-1	p.S395_splice	KHSRP_uc021unp.1_5'Flank	NM_003685	NP_003676	Q92945	FUBP2_HUMAN	Homo sapiens KH-type splicing regulatory protein (KHSRP), mRNA.	395	Gly-rich.				RNA splicing, via transesterification reactions|mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|RNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						GGGACCACTCTGCAAGACAAG	0.687													24	62					0	0	1	0	0	G	6416895	T	G	6416895	5	3	211	1	0	0	0	0	0	0	1	0	8151	1594	55	5	986	5	KHSRP	19	6416895	Splice_Site	SNP	T	TCGA-HT-7860-01A-11D-2395-08	3983001	6416895	52712088	65	9084											
STXBP2	6813	broad.mit.edu	37	chr19	7705819	7705819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgttcagtgagctaggccGctctcgtctggcaaaggtgg	6	10	14	11	2	3	1	1	1	2	0	4	1	3	1	2	4	1	4	2	4	2	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:7705819G>A	uc010xjr.2	+	5	437	c.392G>A	c.(391-393)cGc>cAc	p.R131H	STXBP2_uc002mha.4_Missense_Mutation_p.R120H|STXBP2_uc002mhb.4_Missense_Mutation_p.R117H|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc010dvl.2_Missense_Mutation_p.R281H	NM_006949	NP_008880	Q15833	STXB2_HUMAN	Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.	120					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						GAGCTAGGCCGCTCTCGTCTG	0.662													47	159					0	0	1	0	0	A	7705819	G	A	7705819	3	1	211	1	0	0	0	0	1	0	0	0	15352	1087	38	1	381	1	STXBP2	19	7705819	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	1288924	7705819	51423164	66	9085											
MUC16	94025	broad.mit.edu	37	chr19	9063480	9063480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagatgctctctggtaatGtggaggaaacaggagaaggt	14	8	15	4	0	1	2	0	0	1	2	2	6	1	4	0	5	2	2	0	5	4	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:9063480G>A	uc002mkp.3	-	2	24170	c.23966C>T	c.(23965-23967)aCa>aTa	p.T7989I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7991	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T7989R(3)|p.T3622R(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTCTGGTAATGTGGAGGAAAC	0.468													21	53					0	0	1	0	0	A	9063480	G	A	9063480	3	1	211	1	0	0	0	0	1	0	0	0	9973	1377	48	3	19885	3	MUC16	19	9063480	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	1357661	9063480	50065503	67	9086											
MUC16	94025	broad.mit.edu	37	chr19	9065959	9065959	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtccttgccagtggtcaGtctctcatctgaagtgtggc	5	13	13	10	0	4	1	2	1	2	0	6	1	5	1	2	3	1	0	2	3	1	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:9065959G>T	uc002mkp.3	-	2	21691	c.21487C>A	c.(21487-21489)Ctg>Atg	p.L7163M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7165	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGTGGTCAGTCTCTCATCT	0.512													51	109					4.44712e-29	4.8077e-29	1	1	0	T	9065959	G	T	9065959	3	4	211	1	0	0	0	0	1	0	0	0	9973	1020	36	5	22364	5	MUC16	19	9065959	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	2479	9065959	50063024	68	9087											
AP1M2	10053	broad.mit.edu	37	chr19	10687903	10687903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaatactccaaatcacgaCgtttctctccggcacatact	11	12	4	14	3	2	0	1	0	1	0	5	1	4	0	2	1	2	2	2	1	4	4			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:10687903C>T	uc002mpd.3	-	8	1108	c.1024G>A	c.(1024-1026)Gtc>Atc	p.V342I	AP1M2_uc002mpc.3_Missense_Mutation_p.V340I	NM_005498	NP_005489	Q9Y6Q5	AP1M2_HUMAN	Homo sapiens adaptor-related protein complex 1, mu 2 subunit (AP1M2), mRNA.	340	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CAAATCACGACGTTTCTCTCC	0.597													6	29					0	0	1	0	0	T	10687903	C	T	10687903	3	4	211	1	0	0	0	0	1	0	0	0	735	536	19	1	269	1	AP1M2	19	10687903	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	1621944	10687903	48441080	69	9088											
MAST1	22983	broad.mit.edu	37	chr19	12977541	12977541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggagcccgtggaaatcCgccagttctcttcctgctct	7	10	11	13	2	2	0	0	0	2	0	5	3	4	3	4	3	2	2	4	3	1	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:12977541C>T	uc002mvm.3	+	17	2232	c.2104C>T	c.(2104-2106)Cgc>Tgc	p.R702C		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	702	AGC-kinase C-terminal.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CGTGGAAATCCGCCAGTTCTC	0.622													12	29					0	0	1	0	0	T	12977541	C	T	12977541	3	4	211	1	0	0	0	0	1	0	0	0	9324	652	23	2	2174	2	MAST1	19	12977541	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	2289638	12977541	46151442	70	9089											
MED26	9441	broad.mit.edu	37	chr19	16687579	16687579	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagccctgccttgcagccCggccccgccagccgctggtg	4	5	13	19	3	0	0	0	0	0	0	0	1	0	0	7	2	5	2	7	2	0	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:16687579C>T	uc002nen.1	-	2	1323	c.1062G>A	c.(1060-1062)ccG>ccA	p.P354P	MED26_uc002nee.2_Non-coding_Transcript	NM_004831	NP_004822	O95402	MED26_HUMAN	Homo sapiens mediator complex subunit 26 (MED26), mRNA.	354					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						CCTTGCAGCCCGGCCCCGCCA	0.706													13	25					0	0	1	0	0	T	16687579	C	T	16687579	2	4	211	1	0	0	0	0	0	0	0	1	9444	639	23	2		2	MED26	19	16687579	Silent	SNP	C	TCGA-HT-7860-01A-11D-2395-08	3710038	16687579	42441404	71	9090											
ACTN4	81	broad.mit.edu	37	chr19	39212280	39212280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcgagagcgacctggctgCgcaccaggaccgcgtggagc	7	5	15	14	5	0	1	0	0	0	1	1	5	0	3	3	3	3	2	3	3	0	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:39212280C>T	uc002oja.2	+	11	1513	c.1394C>T	c.(1393-1395)gCg>gTg	p.A465V	ACTN4_uc010egc.2_Missense_Mutation_p.A465V|ACTN4_uc021uug.1_Missense_Mutation_p.A246V	NM_004924	NP_004915	O43707	ACTN4_HUMAN	Homo sapiens actinin, alpha 4 (ACTN4), mRNA.	465					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GACCTGGCTGCGCACCAGGAC	0.617													29	90					0	0	1	0	0	T	39212280	C	T	39212280	3	4	211	1	0	0	0	0	1	0	0	0	207	768	27	1	1440	1	ACTN4	19	39212280	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	22524701	39212280	19916703	72	9091											
IRGC	56269	broad.mit.edu	37	chr19	44222962	44222962	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggccgaggaccctggcgcGgctctcacgggcgtcatgga	6	5	17	13	5	2	0	2	0	1	0	3	4	2	2	2	6	0	1	2	6	0	0			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:44222962G>A	uc002oxh.3	+	1	399	c.252G>A	c.(250-252)gcG>gcA	p.A84A	IRGC_uc021uvh.1_Silent_p.A84A	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA.	84						membrane	GTP binding|hydrolase activity, acting on acid anhydrides	p.A84A(2)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				ACCCTGGCGCGGCTCTCACGG	0.682													44	152					0	0	1	0	0	A	44222962	G	A	44222962	2	1	211	1	0	0	0	0	0	0	0	1	7838	1103	39	2		2	IRGC	19	44222962	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08	5010682	44222962	14906021	73	9092											
RUVBL2	10856	broad.mit.edu	37	chr19	49518835	49518835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctccccctccagggtacaGaagtgcaggtggatgacatc	9	7	11	14	0	0	2	0	1	0	1	3	3	2	3	4	3	2	2	4	3	2	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:49518835G>A	uc002plr.1	+	13	1271	c.1258G>A	c.(1258-1260)Gaa>Aaa	p.E420K	RUVBL2_uc002pls.1_Non-coding_Transcript|RUVBL2_uc010emn.1_Missense_Mutation_p.E375K	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	Homo sapiens RuvB-like 2 (E. coli) (RUVBL2), mRNA.	420					DNA recombination|DNA repair|cellular response to UV|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex|NuA4 histone acetyltransferase complex|cytoplasm|membrane|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CCAGGGTACAGAAGTGCAGGT	0.602													40	109					0	0	1	0	0	A	49518835	G	A	49518835	3	1	211	1	0	0	0	0	1	0	0	0	13753	943	33	3	1312	3	RUVBL2	19	49518835	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	5295873	49518835	9610148	74	9093											
MYBPC2	4606	broad.mit.edu	37	chr19	50939931	50939931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggggaccgtgggtattacCgcctcgaggtcaaagccaag	9	7	15	10	3	1	0	1	0	0	0	2	2	1	1	4	4	2	1	4	4	4	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:50939931C>T	uc002psf.2	+	4	454	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	135	Ig-like C2-type 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TGGGTATTACCGCCTCGAGGT	0.612													42	146					0	0	1	0	0	T	50939931	C	T	50939931	3	4	211	1	0	0	0	0	1	0	0	0	10012	652	23	2	421	2	MYBPC2	19	50939931	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	1421096	50939931	8189052	75	9094											
LILRB3	11025	broad.mit.edu	37	chr19	54746595	54746595	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagggctgtgagggcgggCgtcatggcgtctccttccgg	4	8	18	11	4	2	1	1	1	1	0	4	1	3	1	2	5	1	2	2	5	0	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:54746595C>T	uc010erh.1	-	0	130	c.6G>A	c.(4-6)acG>acA	p.T2T	LILRB3_uc002qew.2_Intron|LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Silent_p.T2T|LILRB3_uc002qeh.1_Silent_p.T2T|LILRB3_uc002qeg.1_Non-coding_Transcript|LILRB3_uc002qei.1_Silent_p.T2T|LILRB3_uc002qek.1_Silent_p.T2T|LILRB3_uc002qej.1_Non-coding_Transcript|LILRB3_uc002qel.1_Silent_p.T2T|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Silent_p.T2T|LILRB3_uc002qep.1_Silent_p.T2T|LILRB3_uc002qeq.1_Silent_p.T2T|LILRB3_uc010yep.1_Silent_p.T2T|LILRB3_uc010yeq.1_Silent_p.T2T|LILRB3_uc002qet.3_Non-coding_Transcript|LILRB3_uc002qeu.1_Silent_p.T2T|LILRB3_uc002qev.1_5'Flank	NM_006864	NP_006855	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.	2					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGAGGGCGGGCGTCATGGCGT	0.647													13	130					0	0	1	0	0	T	54746595	C	T	54746595	2	4	211	1	0	0	0	0	0	0	0	1	8792	755	27	1		1	LILRB3	19	54746595	Silent	SNP	C	TCGA-HT-7860-01A-11D-2395-08	3806664	54746595	4382388	76	9095											
NLRP5	126206	broad.mit.edu	37	chr19	56539531	56539531	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggcctcgtgagcgaagaCgtaaggaggccactggaggt	9	8	16	8	3	0	2	0	1	0	1	1	5	0	4	2	5	1	1	2	5	2	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:56539531C>T	uc002qmj.3	+	6	1932	c.1932C>T	c.(1930-1932)gaC>gaT	p.D644D	NLRP5_uc002qmi.3_Silent_p.D625D	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	644						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGAGCGAAGACGTAAGGAGGC	0.552													37	114					0	0	1	0	0	T	56539531	C	T	56539531	2	4	211	1	0	0	0	0	0	0	0	1	10480	535	19	1		1	NLRP5	19	56539531	Silent	SNP	C	TCGA-HT-7860-01A-11D-2395-08	1792936	56539531	2589452	77	9096											
PFDN4	5203	broad.mit.edu	37	chr20	52831957	52831957	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattctcaagaagaaacgcAagaaatgttagaagaagcaa	20	6	8	7	1	1	5	1	0	1	5	2	5	1	5	1	0	2	3	1	0	9	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr20:52831957A>C	uc002xwx.3	+	2	389	c.251A>C	c.(250-252)cAa>cCa	p.Q84P		NM_002623	NP_002614	Q9NQP4	PFD4_HUMAN	Homo sapiens prefoldin subunit 4 (PFDN4), mRNA.	84					'de novo' posttranslational protein folding	prefoldin complex	chaperone binding|unfolded protein binding			endometrium(1)|kidney(2)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206)			GAAGAAACGCAAGAAATGTTA	0.313													12	47					0	0	1	0	0	C	52831957	A	C	52831957	3	2	211	1	0	0	0	0	1	0	0	0	11757	130	5	5	261	5	PFDN4	20	52831957	Missense_Mutation	SNP	A	TCGA-HT-7860-01A-11D-2395-08		52831957	10193563	78	9097											
HRH3	11255	broad.mit.edu	37	chr20	60793682	60793682	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccagcggcctgtcagcacGtagggtacatacagtgggat	9	8	14	10	2	1	0	1	0	0	0	2	1	2	1	2	3	4	3	2	3	3	3			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr20:60793682G>A	uc002yci.3	-	1	579	c.282C>T	c.(280-282)taC>taT	p.Y94Y	HRH3_uc002ycf.2_Silent_p.Y94Y|HRH3_uc002ych.3_Silent_p.Y94Y|HRH3_uc002ycg.3_Silent_p.Y94Y	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	Homo sapiens histamine receptor H3 (HRH3), mRNA.	94					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	CTGTCAGCACGTAGGGTACAT	0.632													14	50					0	0	1	0	0	A	60793682	G	A	60793682	2	1	211	1	0	0	0	0	0	0	0	1	7357	1140	40	1		1	HRH3	20	60793682	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08	7961725	60793682	2231838	79	9098											
TMPRSS3	64699	broad.mit.edu	37	chr21	43810090	43810090	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgatcccaatgacgatgaTtggaaaaaacttcaatggca	17	9	8	7	1	1	3	1	3	0	0	2	5	2	4	1	2	1	1	1	2	6	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr21:43810090T>C	uc002zbb.2	-	2	352	c.151A>G	c.(151-153)Atc>Gtc	p.I51V	TMPRSS3_uc002zaz.2_5'Flank|TMPRSS3_uc002zba.2_5'UTR|TMPRSS3_uc002zbc.2_Missense_Mutation_p.I51V|TMPRSS3_uc002zbd.3_Missense_Mutation_p.I51V	NM_024022	NP_076927	P57727	TMPS3_HUMAN	Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.	51				LKFFPIIVI -> FEVFSQSSSL (in Ref. 1; AAG37012).	cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						ATGACGATGATTGGAAAAAAC	0.433													28	54					0	0	1	0	0	C	43810090	T	C	43810090	3	2	211	1	0	0	0	0	1	0	0	0	16245	1493	52	3	1340	3	TMPRSS3	21	43810090	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08		43810090	4319805	80	9099											
ARSD	414	broad.mit.edu	37	chrX	2836028	2836028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgccggtgactgctctcGcggagacagagaagaaaccg	11	5	13	12	4	1	4	0	1	1	3	2	6	1	4	3	2	3	1	3	2	2	0			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chrX:2836028G>A	uc004cqy.3	-	4	780	c.680C>T	c.(679-681)gCg>gTg	p.A227V		NM_001669	NP_001660	P51689	ARSD_HUMAN	Homo sapiens arylsulfatase D (ARSD), mRNA.	227						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GACTGCTCTCGCGGAGACAGA	0.622													9	23					0	0	1	0	0	A	2836028	G	A	2836028	3	1	211	1	0	0	0	0	1	0	0	0	989	1087	38	1	1278	1	ARSD	23	2836028	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08		2836028	152434532	81	9100											
MAGEB2	4113	broad.mit.edu	37	chrX	30237647	30237647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttgaaagatgaagagaaagCcggagtctgagccagagttg	14	8	14	5	1	1	6	0	3	1	3	1	8	1	7	2	1	2	1	2	1	3	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chrX:30237647C>T	uc022buf.1	+	0	950	c.950C>T	c.(949-951)gCc>gTc	p.A317V	MAGEB2_uc004dbz.3_Missense_Mutation_p.A317V	NM_002364	NP_002355	O15479	MAGB2_HUMAN	Homo sapiens melanoma antigen family B, 2 (MAGEB2), mRNA.	317							protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						GAAGAGAAAGCCGGAGTCTGA	0.498													23	43					0	0	1	0	0	T	30237647	C	T	30237647	3	4	211	1	0	0	0	0	1	0	0	0	9176	739	26	3	952	3	MAGEB2	23	30237647	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	27401619	30237647	125032913	82	9101											
MED14	9282	broad.mit.edu	37	chrX	40518771	40518771	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttttagctgaagcgtttggTtggttttgggactaagagct	7	16	13	5	1	0	2	0	1	0	1	0	3	0	3	0	3	3	5	0	3	3	7			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chrX:40518771T>C	uc004dex.4	-	26	3913	c.3773A>G	c.(3772-3774)aAc>aGc	p.N1258S	MED14_uc004dey.1_Missense_Mutation_p.N160S	NM_004229	NP_004220	O60244	MED14_HUMAN	Homo sapiens mediator complex subunit 14 (MED14), mRNA.	1258					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAGCGTTTGGTTGGTTTTGGG	0.398													39	61					0	0	1	0	0	C	40518771	T	C	40518771	3	2	211	1	0	0	0	0	1	0	0	0	9432	1725	60	3	611	3	MED14	23	40518771	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08	10281124	40518771	114751789	83	9102											
DDX26B	203522	broad.mit.edu	37	chrX	134715064	134715064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatttaccatcaaggaagccGcaaggtaggtataaacagga	17	7	10	7	1	1	0	1	0	0	0	1	2	1	2	2	4	3	3	2	4	9	5	rs143980255		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chrX:134715064G>A	uc004eyw.4	+	15	2836	c.2473G>A	c.(2473-2475)Gca>Aca	p.A825T	DDX26B_uc004eyx.4_Missense_Mutation_p.A426T	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.	825										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CAAGGAAGCCGCAAGGTAGGT	0.383													5	13					0	0	1	0	0	A	134715064	G	A	134715064	3	1	211	1	0	0	0	0	1	0	0	0	4353	1087	38	1	2535	1	DDX26B	23	134715064	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	94196293	134715064	20555496	84	9103											
AVPR2	554	broad.mit.edu	37	chrX	153172155	153172155	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcaccaccgccagctcCtccctggccaaggacacttc	7	7	7	20	1	0	0	0	0	0	0	4	1	3	1	7	2	2	2	7	2	1	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chrX:153172155C>T	uc004fjh.4	+	2	1261	c.1089C>T	c.(1087-1089)tcC>tcT	p.S363S	AVPR2_uc004fjg.4_Silent_p.S152S|AVPR2_uc004fji.3_3'UTR	NM_000054	NP_000045	P30518	V2R_HUMAN	Homo sapiens arginine vasopressin receptor 2 (AVPR2), transcript variant 1, mRNA.	363					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of adenylate cyclase activity|excretion|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	Golgi apparatus|endoplasmic reticulum|endosome|integral to plasma membrane	vasopressin receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCGCCAGCTCCTCCCTGGCCA	0.642													18	71					0	0	1	0	0	T	153172155	C	T	153172155	2	4	211	1	0	0	0	0	0	0	0	1	1233	668	24	3		3	AVPR2	23	153172155	Silent	SNP	C	TCGA-HT-7860-01A-11D-2395-08	18457091	153172155	2098405	85	9104											
KLHDC7A	127707	broad.mit.edu	37	chr1	18809173	18809173	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgctacaacccgctcacGgggatctggagcgaggtgtg	7	9	14	11	3	3	0	1	0	2	0	3	3	3	2	1	4	4	2	1	4	2	2			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:18809173G>A	uc001bax.3	+	0	1750	c.1698G>A	c.(1696-1698)acG>acA	p.T566T	KLHDC7A_uc009vpg.3_Silent_p.T348T	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	566						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCGCTCACGGGGATCTGGA	0.667													15	29					0	0	1	0	0	A	18809173	G	A	18809173	2	1	212	1	0	0	0	0	0	0	0	1	8360	1103	39	2		2	KLHDC7A	1	18809173	Silent	SNP	G	TCGA-HT-7873-01B-11D-2395-08		18809173	230441448	1	9105											
SLC9A1	6548	broad.mit.edu	37	chr1	27440680	27440680	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggaaggggggtgtctcGcctacacccttgatcaggcc	7	8	14	12	1	2	1	1	1	1	0	3	2	2	2	3	5	2	1	3	5	2	2			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:27440680G>A	uc001bnm.3	-	1	1076	c.450C>T	c.(448-450)ggC>ggT	p.G150G	SLC9A1_uc010ofk.2_Intron|SLC9A1_uc001bnn.2_Silent_p.G150G	NM_003047	NP_003038	P19634	SL9A1_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 1 (SLC9A1), mRNA.	150					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	p.G150G(2)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GGGGTGTCTCGCCTACACCCT	0.617													28	40					0	0	1	0	0	A	27440680	G	A	27440680	2	1	212	1	0	0	0	0	0	0	0	1	14709	1074	38	1		1	SLC9A1	1	27440680	Silent	SNP	G	TCGA-HT-7873-01B-11D-2395-08	8631507	27440680	221809941	2	9106											
CYP4B1	1580	broad.mit.edu	37	chr1	47279204	47279204	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtcctttgacatcttctgCgatgtgggtcacatggcgct	7	13	11	10	2	3	1	1	1	2	0	4	2	4	1	1	2	1	1	1	2	1	2	rs147120348		TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:47279204C>T	uc001cqn.4	+	4	630	c.546C>T	c.(544-546)tgC>tgT	p.C182C	CYP4B1_uc009vyl.1_Silent_p.C19C|CYP4B1_uc001cqm.4_Silent_p.C182C|CYP4B1_uc009vym.3_Silent_p.C167C|CYP4B1_uc010omk.2_Silent_p.C19C|CYP4B1_uc010oml.1_Silent_p.C19C	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	182					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)					ACATCTTCTGCGATGTGGGTC	0.582													28	36					0	0	1	0	0	T	47279204	C	T	47279204	2	4	212	1	0	0	0	0	0	0	0	1	4185	776	27	1		1	CYP4B1	1	47279204	Silent	SNP	C	TCGA-HT-7873-01B-11D-2395-08	19838524	47279204	201971417	3	9107											
LPHN2	23266	broad.mit.edu	37	chr1	82434955	82434955	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggctatctgcatcttcaccTtctgctttttccgtggccta	4	17	7	13	1	4	0	1	0	3	0	5	0	5	0	3	2	2	3	3	2	2	6			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:82434955T>C	uc001dit.4	+	13	2747	c.2566T>C	c.(2566-2568)Ttc>Ctc	p.F856L	LPHN2_uc001dis.3_Intron|LPHN2_uc001diu.3_Missense_Mutation_p.F856L|LPHN2_uc001div.3_Missense_Mutation_p.F856L|LPHN2_uc009wcd.3_Missense_Mutation_p.F856L|LPHN2_uc001diw.3_Missense_Mutation_p.F440L|LPHN2_uc009wce.1_5'Flank	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	869					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CATCTTCACCTTCTGCTTTTT	0.393													47	120					0	0	1	0	0	C	82434955	T	C	82434955	3	2	212	1	0	0	0	0	1	0	0	0	8916	1609	56	4	2612	4	LPHN2	1	82434955	Missense_Mutation	SNP	T	TCGA-HT-7873-01B-11D-2395-08	35155751	82434955	166815666	4	9108											
ETV3	2117	broad.mit.edu	37	chr1	157105467	157105467	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgggagcctggggatgacTctgttttgtaggcccagtca	6	10	15	10	1	2	1	1	1	1	0	2	3	2	3	3	4	1	2	3	4	1	3			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:157105467T>A	uc001fqr.2	-	2	369	c.80A>T	c.(79-81)gAg>gTg	p.E27V	ETV3_uc001fqt.3_Missense_Mutation_p.E27V	NM_001145312	NP_001138784	P41162	ETV3_HUMAN	Homo sapiens ets variant 3 (ETV3), transcript variant 1, mRNA.	27							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				TGGGGATGACTCTGTTTTGTA	0.527													44	70					0	0	1	0	0	A	157105467	T	A	157105467	3	1	212	1	0	0	0	0	1	0	0	0	5279	1551	54	5	1502	5	ETV3	1	157105467	Missense_Mutation	SNP	T	TCGA-HT-7873-01B-11D-2395-08	74670512	157105467	92145154	5	9109											
SIPA1L2	57568	broad.mit.edu	37	chr1	232538163	232538163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaggtcggtctggagttgtCgaagaattaattccagctga	11	11	13	6	2	1	2	0	1	1	1	4	5	2	3	1	3	1	2	1	3	4	3			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:232538163C>T	uc001hvg.3	-	19	5155	c.4997G>A	c.(4996-4998)cGa>cAa	p.R1666Q	SIPA1L2_uc001hvf.3_Missense_Mutation_p.R722Q	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	1666					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTGGAGTTGTCGAAGAATTAA	0.393													20	24					0	0	1	0	0	T	232538163	C	T	232538163	3	4	212	1	0	0	0	0	1	0	0	0	14330	884	31	2	179	2	SIPA1L2	1	232538163	Missense_Mutation	SNP	C	TCGA-HT-7873-01B-11D-2395-08	75432696	232538163	16712458	6	9110											
TANC1	85461	broad.mit.edu	37	chr2	160050870	160050870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtctcaccttggccacgagGaagttgtcactctgctcctg	7	11	10	13	1	3	0	2	0	2	0	5	2	4	1	3	2	1	2	3	2	1	2			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr2:160050870G>A	uc002uag.3	+	16	3119	c.2845G>A	c.(2845-2847)Gaa>Aaa	p.E949K	TANC1_uc010zcm.2_Missense_Mutation_p.E941K|TANC1_uc010fom.1_Missense_Mutation_p.E755K	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	949						cell junction|postsynaptic density|postsynaptic membrane	binding	p.E949D(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TGGCCACGAGGAAGTTGTCAC	0.552													25	45					0	0	1	0	0	A	160050870	G	A	160050870	3	1	212	1	0	0	0	0	1	0	0	0	15541	1175	41	3	2903	3	TANC1	2	160050870	Missense_Mutation	SNP	G	TCGA-HT-7873-01B-11D-2395-08		160050870	83148503	7	9111											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								20	57					0	0	1	0	0	T	209113112	C	T	209113112	3	4	212	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7873-01B-11D-2395-08	49062242	209113112	34086261	8	9112											
FEV	54738	broad.mit.edu	37	chr2	219846970	219846970	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactgccacagctggatctGtccgctgcctgtggggaggg	7	8	15	11	1	1	0	0	0	1	0	2	2	2	2	3	4	4	2	3	4	1	0			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr2:219846970G>C	uc002vji.1	-	2	718	c.136C>G	c.(136-138)Cag>Gag	p.Q46E		NM_017521	NP_059991	Q99581	FEV_HUMAN	Homo sapiens FEV (ETS oncogene family) (FEV), mRNA.	46					cell differentiation|nervous system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity		EWSR1/FEV(11)|FUS/FEV(2)	large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTGGATCTGTCCGCTGCCT	0.697			T	"EWSR1,  FUS"	Ewing sarcoma								8	6					0	0	1	0	0	C	219846970	G	C	219846970	3	2	212	1	0	0	0	0	1	0	0	0	5822	1386	48	5	584	5	FEV	2	219846970	Missense_Mutation	SNP	G	TCGA-HT-7873-01B-11D-2395-08	10733858	219846970	23352403	9	9113											
TRIP12	9320	broad.mit.edu	37	chr2	230724205	230724206	+	Frame_Shift_Ins	INS	-	-	C																															ttgtctttcttaggcacctgINSccccgttttttgtctttctg																										TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr2:230724205_230724206insC	uc002vpx.1	-	3	418_419	c.309_310insG	c.(307-312)gggcagfs	p.G103fs	TRIP12_uc021vxw.1_Frame_Shift_Ins_p.G61fs|TRIP12_uc002vpy.1_Intron|TRIP12_uc002vpw.1_Frame_Shift_Ins_p.G61fs|TRIP12_uc010zlz.1_Non-coding_Transcript|TRIP12_uc010fxh.1_Frame_Shift_Ins_p.G61fs	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)		TTAGGCACCTGCCCCGTTTTTT	0.45													7	266	---	---	---	---						C	230724206	-	C	230724205	7	5	212	1	0	1	1	0	0	0	0	0	16553	1328	46	0	5950	0	TRIP12	2	230724205	Frame_Shift_Ins	INS	-	TCGA-HT-7873-01B-11D-2395-08	10877235	230724205	12475168	10	9114											
SP140	11262	broad.mit.edu	37	chr2	231150502	231150502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acggccaggtggtctccagtGaaaagaaggcgaacgtgaat	13	6	14	8	3	1	3	0	2	1	1	2	4	1	3	2	4	1	0	2	4	5	0			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr2:231150502G>A	uc002vql.3	+	16	1715	c.1600G>A	c.(1600-1602)Gaa>Aaa	p.E534K	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Missense_Mutation_p.E420K|SP140_uc002vqm.3_Missense_Mutation_p.E474K|SP140_uc010fxl.3_Missense_Mutation_p.E507K	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	534					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGTCTCCAGTGAAAAGAAGGC	0.458													51	80					0	0	1	0	0	A	231150502	G	A	231150502	3	1	212	1	0	0	0	0	1	0	0	0	14962	1291	45	3	1783	3	SP140	2	231150502	Missense_Mutation	SNP	G	TCGA-HT-7873-01B-11D-2395-08	426297	231150502	12048871	11	9115											
CADM2	253559	broad.mit.edu	37	chr3	85984926	85984926	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttatttctagatacaccatCagttaagattataccatcga	14	15	4	8	1	2	2	1	0	1	2	3	3	2	2	2	0	2	1	2	0	6	8			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr3:85984926C>G	uc003dql.3	+	5	689	c.689C>G	c.(688-690)tCa>tGa	p.S230*	CADM2_uc003dqj.3_Nonsense_Mutation_p.S228*|CADM2_uc003dqk.3_Nonsense_Mutation_p.S237*|CADM2_uc003dqm.2_Nonsense_Mutation_p.S120*|CADM2_uc021xay.1_Nonsense_Mutation_p.S120*|CADM2_uc021xaz.1_Nonsense_Mutation_p.S120*|CADM2_uc021xba.1_Nonsense_Mutation_p.S120*	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	228	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GATACACCATCAGTTAAGATT	0.328													56	83					0	0	1	0	0	G	85984926	C	G	85984926	4	3	212	1	0	0	0	0	0	1	0	0	2567	838	29	5	776	5	CADM2	3	85984926	Nonsense_Mutation	SNP	C	TCGA-HT-7873-01B-11D-2395-08		85984926	112037504	12	9116											
C7	730	broad.mit.edu	37	chr5	40955639	40955639	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgtgactaatcttcctcAagtcataaaacaaaaggtat	16	12	5	8	0	4	1	2	1	2	0	5	1	5	1	1	1	1	1	1	1	7	4			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr5:40955639A>G	uc003jmh.3	+	9	1358	c.1244A>G	c.(1243-1245)cAa>cGa	p.Q415R	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	415	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AATCTTCCTCAAGTCATAAAA	0.413													4	90					0	0	1	0	0	G	40955639	A	G	40955639	3	3	212	1	0	0	0	0	1	0	0	0	2375	130	5	3	1282	3	C7	5	40955639	Missense_Mutation	SNP	A	TCGA-HT-7873-01B-11D-2395-08		40955639	139959621	13	9117											
ALDH7A1	501	broad.mit.edu	37	chr5	125885898	125885898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagttgtacccaagccagcGaaagattctgcccagatctt	13	9	8	11	1	2	2	0	0	2	2	2	3	2	2	3	0	4	2	3	0	4	4			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr5:125885898G>A	uc003ktx.3	-	14	1597	c.1405C>T	c.(1405-1407)Cgc>Tgc	p.R469C	ALDH7A1_uc003ktv.3_Missense_Mutation_p.R90C|ALDH7A1_uc011cxa.2_Missense_Mutation_p.R432C	NM_001201377	NP_001188306	P49419	AL7A1_HUMAN	Homo sapiens aldehyde dehydrogenase 7 family, member A1 (ALDH7A1), transcript variant 1, mRNA.	469					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	L-aminoadipate-semialdehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	CCAAGCCAGCGAAAGATTCTG	0.348													22	61					0	0	1	0	0	A	125885898	G	A	125885898	3	1	212	1	0	0	0	0	1	0	0	0	504	1058	37	2	230	2	ALDH7A1	5	125885898	Missense_Mutation	SNP	G	TCGA-HT-7873-01B-11D-2395-08	84930259	125885898	55029362	14	9118											
MRAP2	112609	broad.mit.edu	37	chr6	84799071	84799071	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctgaacaggctcatgaaGtttgacatccccaactttgt	11	11	9	10	0	1	3	1	3	0	0	2	4	2	3	2	1	3	3	2	1	3	2			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr6:84799071G>A	uc003pkg.4	+	3	679	c.489G>A	c.(487-489)aaG>aaA	p.K163K	MRAP2_uc010kbo.3_Silent_p.K77K	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN	Homo sapiens melanocortin 2 receptor accessory protein 2 (MRAP2), mRNA.	163					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						GGCTCATGAAGTTTGACATCC	0.493													44	58					0	0	1	0	0	A	84799071	G	A	84799071	2	1	212	1	0	0	0	0	0	0	0	1	9754	1020	36	3		3	MRAP2	6	84799071	Silent	SNP	G	TCGA-HT-7873-01B-11D-2395-08		84799071	86315996	15	9119											
ABCA13	154664	broad.mit.edu	37	chr7	48335325	48335325	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagatatggtcctcgccgaAtcagctaaattgtgaaagtc	14	10	9	8	2	1	2	1	1	0	1	4	3	2	2	2	1	1	1	2	1	6	3			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr7:48335325A>C	uc003toq.2	+	20	9008	c.8984A>C	c.(8983-8985)aAt>aCt	p.N2995T	ABCA13_uc010kys.1_Missense_Mutation_p.N69T	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	2995					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCCTCGCCGAATCAGCTAAAT	0.393													43	93					0	0	1	0	0	C	48335325	A	C	48335325	3	2	212	1	0	0	0	0	1	0	0	0	31	101	4	5	8895	5	ABCA13	7	48335325	Missense_Mutation	SNP	A	TCGA-HT-7873-01B-11D-2395-08		48335325	110803338	16	9120											
TRPA1	8989	broad.mit.edu	37	chr8	72946552	72946552	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagataaatacaactgtagaCctcaacaaagttttcaaaat	20	10	4	7	0	2	2	2	0	0	2	2	2	2	2	1	0	3	2	1	0	10	5			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr8:72946552C>A	uc003xza.3	-	21	2791	c.2616G>T	c.(2614-2616)agG>agT	p.R872S	LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	872						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CAACTGTAGACCTCAACAAAG	0.294													26	34					7.92952e-12	8.60438e-12	1	1	0	A	72946552	C	A	72946552	3	1	212	1	0	0	0	0	1	0	0	0	16574	506	18	5	767	5	TRPA1	8	72946552	Missense_Mutation	SNP	C	TCGA-HT-7873-01B-11D-2395-08		72946552	73417470	17	9121											
WWP1	11059	broad.mit.edu	37	chr8	87443690	87443690	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaatcataacacaaaaacAacccagtgggaagatccaag	19	5	8	9	0	1	2	1	1	0	1	2	3	2	3	2	1	3	0	2	1	7	1			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr8:87443690A>C	uc003ydt.3	+	12	1723	c.1443A>C	c.(1441-1443)acA>acC	p.T481T	WWP1_uc010mai.3_Silent_p.T257T	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 1 (WWP1), mRNA.	481	WW 3.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						ACACAAAAACAACCCAGTGGG	0.348													22	67					0	0	1	0	0	C	87443690	A	C	87443690	2	2	212	1	0	0	0	0	0	0	0	1	17412	117	5	5		5	WWP1	8	87443690	Silent	SNP	A	TCGA-HT-7873-01B-11D-2395-08	14497138	87443690	58920332	18	9122											
A1CF	29974	broad.mit.edu	37	chr10	52596001	52596002	+	Frame_Shift_Ins	INS	-	-	T																															gatttcttctctctttttggINStttttgggatgcccccaaca																										TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr10:52596001_52596002insT	uc001jjj.3	-	5	624_625	c.436_437insA	c.(436-438)accfs	p.T146fs	A1CF_uc010qho.2_Frame_Shift_Ins_p.T154fs|A1CF_uc010qhn.2_Frame_Shift_Ins_p.T154fs|A1CF_uc009xov.3_Frame_Shift_Ins_p.T146fs|A1CF_uc001jji.3_Frame_Shift_Ins_p.T146fs|A1CF_uc001jjh.3_Frame_Shift_Ins_p.T154fs	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	146	RRM 2.				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						TCTCTTTTTGGTTTTTGGGATG	0.446													39	103	---	---	---	---						T	52596002	-	T	52596001	7	5	212	1	0	1	1	0	0	0	0	0	2	1261	44	0	1379	0	A1CF	10	52596001	Frame_Shift_Ins	INS	-	TCGA-HT-7873-01B-11D-2395-08		52596001	82938746	19	9123											
PAK1	5058	broad.mit.edu	37	chr11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-																															aatcactggtggtggggtagCatcatcatcatcatcatcct																										TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr11:77069990_77069992delCAT	uc001oyh.4	-	5	1081_1083	c.548_550delATG	c.(547-552)gatgct>gct	p.D183del	PAK1_uc010rso.2_In_Frame_Del_p.D85del|PAK1_uc001oyg.4_In_Frame_Del_p.D183del|PAK1_uc001oyi.1_In_Frame_Del_p.D183del|PAK1_uc010rsn.2_5'UTR	NM_002576	NP_002567	Q13153	PAK1_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 1 (PAK1), transcript variant 2, mRNA.	183	Interaction with CRIPAK.				ER-nucleus signaling pathway|T cell costimulation|T cell receptor signaling pathway|apoptosis|axon guidance|cytoskeleton organization|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation	Golgi apparatus|cytosol|focal adhesion	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478													7	170	---	---	---	---						-	77069992	CAT	-	77069990	7	5	212	1	0	1	0	1	0	0	0	0	11399	710	25	0	1180	0	PAK1	11	77069990	In_Frame_Del	DEL	CAT	TCGA-HT-7873-01B-11D-2395-08		77069990	57936526	20	9124											
MAB21L1	4081	broad.mit.edu	37	chr13	36049234	36049234	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcgggttggtcaggatctCtcttgccagtcgccacgttt	4	15	11	11	3	3	0	1	0	2	0	6	1	3	1	2	3	1	2	2	3	0	4			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr13:36049234C>G	uc001uvc.3	-	1	1624	c.1042G>C	c.(1042-1044)Gag>Cag	p.E348Q	NBEA_uc021ric.1_Intron|NBEA_uc021rid.1_Intron|NBEA_uc010abi.3_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.2_5'Flank|NBEA_uc010teg.1_5'Flank	NM_005584	NP_005575	Q13394	MB211_HUMAN	Homo sapiens mab-21-like 1 (C. elegans) (MAB21L1), mRNA.	348					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GTCAGGATCTCTCTTGCCAGT	0.433													37	84					0	0	1	0	0	G	36049234	C	G	36049234	3	3	212	1	0	0	0	0	1	0	0	0	9141	922	32	5	41	5	MAB21L1	13	36049234	Missense_Mutation	SNP	C	TCGA-HT-7873-01B-11D-2395-08		36049234	79120644	21	9125											
POTEG	404785	broad.mit.edu	37	chr14	19562088	19562088	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaatttaaatgcactggAtagatatggaaggtatagtt	16	12	10	3	0	0	1	0	0	0	1	0	3	0	3	0	3	2	4	0	3	8	7			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr14:19562088A>G	uc001vuz.1	+	3	957	c.905A>G	c.(904-906)gAt>gGt	p.D302G	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	302										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AATGCACTGGATAGATATGGA	0.328													17	3					0	0	1	0	0	G	19562088	A	G	19562088	3	3	212	1	0	0	0	0	1	0	0	0	12266	333	12	3	919	3	POTEG	14	19562088	Missense_Mutation	SNP	A	TCGA-HT-7873-01B-11D-2395-08		19562088	87787452	22	9126											
ADCY4	196883	broad.mit.edu	37	chr14	24787720	24787720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcaccttgatgacaccccGgctgtagcaggtgtagccca	8	10	10	13	1	1	2	1	2	0	0	1	2	1	2	4	2	2	4	4	2	2	4			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr14:24787720G>A	uc001wow.3	-	24	3555	c.3136C>T	c.(3136-3138)Cgg>Tgg	p.R1046W	ADCY4_uc010toh.2_Missense_Mutation_p.R732W|ADCY4_uc001wox.3_Missense_Mutation_p.R1046W|ADCY4_uc001woy.3_Missense_Mutation_p.R1046W	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	1046					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		ATGACACCCCGGCTGTAGCAG	0.562													27	59					0	0	1	0	0	A	24787720	G	A	24787720	3	1	212	1	0	0	0	0	1	0	0	0	296	1115	39	2	101	2	ADCY4	14	24787720	Missense_Mutation	SNP	G	TCGA-HT-7873-01B-11D-2395-08	5225632	24787720	82561820	23	9127											
ALKBH1	8846	broad.mit.edu	37	chr14	78161070	78161102	+	Splice_Site	DEL	ACAAGACTTACCTCAGGAACTCTTTGCTCTGTT	ACAAGACTTACCTCAGGAACTCTTTGCTCTGTT	-																															ttaacacttcattctgattgAcaagacttacctcaggaact																										TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr14:78161070_78161102delACAAGACTTACCTCAGGAACTCTTTGCTCTGTT	uc001xuc.1	-	3	464	c.455_splice	c.e3+1	p.R152_splice		NM_006020	NP_006011	Q13686	ALKB1_HUMAN	Homo sapiens alkB, alkylation repair homolog 1 (E. coli) (ALKBH1), mRNA.	152					DNA dealkylation involved in DNA repair|DNA demethylation|RNA repair|oxidative demethylation	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		ATTCTGATTGACAAGACTTACCTCAGGAACTCTTTGCTCTGTTCCCACAGATC	0.403													8	142	---	---	---	---						-	78161102	ACAAGACTTACCTCAGGAACTCTTTGCTCTGTT	-	78161070	8	5	212	1	0	1	0	1	0	0	1	0	526	290	10	0		0	ALKBH1	14	78161070	Splice_Site	DEL	ACAAGACTTACCTCAGGAACTCTTTGCTCTGTT	TCGA-HT-7873-01B-11D-2395-08	53373350	78161070	29188470	24	9128											
MYO9A	4649	broad.mit.edu	37	chr15	72172772	72172772	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcatagaatccaaagccacGttgctaatcttcacacttcg	12	11	6	12	2	2	1	1	0	1	1	4	1	3	1	2	0	3	3	2	0	4	5			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr15:72172772G>A	uc002atl.4	-	28	5999	c.5526C>T	c.(5524-5526)aaC>aaT	p.N1842N	MYO9A_uc002atk.3_Silent_p.N637N|MYO9A_uc002atm.1_Silent_p.N638N	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1842	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCAAAGCCACGTTGCTAATCT	0.438													45	100					0	0	1	0	0	A	72172772	G	A	72172772	2	1	212	1	0	0	0	0	0	0	0	1	10084	1136	40	1		1	MYO9A	15	72172772	Silent	SNP	G	TCGA-HT-7873-01B-11D-2395-08		72172772	30358620	25	9129											
ALDH1A3	220	broad.mit.edu	37	chr15	101425495	101425495	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatcaacaatgaatggcaCgaatccaagagtgggaaaaa	18	8	9	6	1	1	2	1	1	0	1	2	4	2	3	1	2	1	1	1	2	8	2	rs58142816	byFrequency	TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr15:101425495C>T	uc002bwn.4	+	1	227	c.123C>T	c.(121-123)caC>caT	p.H41H	ALDH1A3_uc010bpb.3_Silent_p.H41H	NM_000693	NP_000684	P47895	AL1A3_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A3 (ALDH1A3), mRNA.	41					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	ATGAATGGCACGAATCCAAGA	0.348													18	36					0	0	1	0	0	T	101425495	C	T	101425495	2	4	212	1	0	0	0	0	0	0	0	1	492	535	19	1		1	ALDH1A3	15	101425495	Silent	SNP	C	TCGA-HT-7873-01B-11D-2395-08	29252723	101425495	1105897	26	9130											
SMG1	23049	broad.mit.edu	37	chr16	18937330	18937330	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgccgccgccgccgccgcTgctcagccgagaccccgggg	3	2	15	21	8	1	1	1	0	0	1	1	2	1	1	9	2	2	2	9	2	0	0			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr16:18937330T>C	uc002dfm.3	-	0	397	c.34A>G	c.(34-36)Agc>Ggc	p.S12G		NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	12	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ccgccgccgctgcTCAGCCGA	0.736													3	13					0	0	1	0	0	C	18937330	T	C	18937330	3	2	212	1	0	0	0	0	1	0	0	0	14795	1580	55	4	11203	4	SMG1	16	18937330	Missense_Mutation	SNP	T	TCGA-HT-7873-01B-11D-2395-08		18937330	71417423	27	9131											
NFAT5	10725	broad.mit.edu	37	chr16	69726213	69726213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacagcagcagttatcttcaGttttattttctgctccagat	9	16	6	10	0	3	1	1	0	2	1	4	1	4	1	1	0	3	5	1	0	2	6			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr16:69726213G>A	uc002exm.2	+	11	2767	c.2431G>A	c.(2431-2433)Gtt>Att	p.V811I	NFAT5_uc002exj.2_Missense_Mutation_p.V735I|NFAT5_uc002exk.2_Missense_Mutation_p.V735I|NFAT5_uc002exl.2_Missense_Mutation_p.V829I|NFAT5_uc002exn.2_Missense_Mutation_p.V828I|NFAT5_uc002exo.2_5'Flank|NFAT5_uc002exi.3_Missense_Mutation_p.V735I	NM_006599	NP_775322	O94916	NFAT5_HUMAN	Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 3, mRNA.	811					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GTTATCTTCAGTTTTATTTTC	0.448													44	86					0	0	1	0	0	A	69726213	G	A	69726213	3	1	212	1	0	0	0	0	1	0	0	0	10360	1029	36	3	2535	3	NFAT5	16	69726213	Missense_Mutation	SNP	G	TCGA-HT-7873-01B-11D-2395-08	50788883	69726213	20628540	28	9132											
TP53	7157	broad.mit.edu	37	chr17	7573996	7574003	+	Frame_Shift_Del	DEL	AGCTCTCG	AGCTCTCG	-																															tgagttccaaggcctcattcAgctctcggaacatctcgaag																								rs121912662		TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr17:7573996_7574003delAGCTCTCG	uc002gim.2	-	9	1218_1225	c.1024_1031delCGAGAGCT	c.(1024-1032)cgagagctgfs	p.R342fs	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Intron|TP53_uc010cne.1_Intron|TP53_uc010cng.1_3'UTR|TP53_uc010cnf.1_3'UTR|TP53_uc002gii.1_Frame_Shift_Del_p.R210fs|TP53_uc010cni.1_3'UTR|TP53_uc010cnh.1_3'UTR|TP53_uc002gij.2_Frame_Shift_Del_p.R342fs|DL476313_uc021tpe.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	342	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R342*(132)|p.R342fs*3(18)|p.E343*(14)|p.0?(8)|p.R342P(6)|p.L344P(5)|p.L344R(5)|p.R342Q(4)|p.L344fs*23(3)|p.L344fs*22(2)|p.R342_N345delRELN(2)|p.E343fs*3(2)|p.?(1)|p.F341C(1)|p.F341fs*4(1)|p.I332fs*5(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)		GGCCTCATTCAGCTCTCGGAACATCTCG	0.562		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)			16	10	---	---	---	---						-	7574003	AGCTCTCG	-	7573996	7	5	212	1	0	1	0	1	0	0	0	0	16378	188	7	0	158	0	TP53	17	7573996	Frame_Shift_Del	DEL	AGCTCTCG	TCGA-HT-7873-01B-11D-2395-08		7573996	73621214	29	9133											
LPO	4025	broad.mit.edu	37	chr17	56342147	56342147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcagaagtggataccccCatatcaaggctacagtgaat	14	8	9	10	0	1	2	1	1	0	1	1	3	1	3	2	2	3	2	2	2	6	3			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr17:56342147C>T	uc002ivt.3	+	9	1647	c.1331C>T	c.(1330-1332)cCa>cTa	p.P444L	LPO_uc010wns.2_Missense_Mutation_p.P385L|LPO_uc010dcp.3_Missense_Mutation_p.P361L|LPO_uc010dcq.3_Missense_Mutation_p.P115L|LPO_uc010dcr.3_Missense_Mutation_p.P7L	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	444					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TGGATACCCCCATATCAAGGC	0.478													35	47					0	0	1	0	0	T	56342147	C	T	56342147	3	4	212	1	0	0	0	0	1	0	0	0	8922	594	21	3	1365	3	LPO	17	56342147	Missense_Mutation	SNP	C	TCGA-HT-7873-01B-11D-2395-08	48768151	56342147	24853063	30	9134											
MEX3C	51320	broad.mit.edu	37	chr18	48703396	48703396	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taattggatatcattcttgcGcggctaggaggaacaggatt	11	12	12	6	2	2	0	1	0	1	0	2	4	2	4	0	5	2	1	0	5	4	7			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr18:48703396G>A	uc002lfc.4	-	1	1666	c.1305C>T	c.(1303-1305)cgC>cgT	p.R435R		NM_016626	NP_057710	Q5U5Q3	MEX3C_HUMAN	Homo sapiens mex-3 homolog C (C. elegans) (MEX3C), mRNA.	435						cytoplasm|nucleus	RNA binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		TCATTCTTGCGCGGCTAGGAG	0.453													6	89					0	0	1	0	0	A	48703396	G	A	48703396	2	1	212	1	0	0	0	0	0	0	0	1	9511	1074	38	1		1	MEX3C	18	48703396	Silent	SNP	G	TCGA-HT-7873-01B-11D-2395-08		48703396	29373852	31	9135											
PCSK4	54760	broad.mit.edu	37	chr19	1481915	1481915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatggccgaggctgggcagCggtggtggggacaggcggca	6	4	21	10	3	0	0	0	0	0	0	0	2	0	1	2	9	1	3	2	9	0	0	rs145279692		TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr19:1481915C>T	uc002ltb.1	-	14	2173	c.2111G>A	c.(2110-2112)cGc>cAc	p.R704H	C19orf25_uc010xgn.1_5'Flank|C19orf25_uc010dsk.3_5'Flank|C19orf25_uc010xgo.2_5'Flank|PCSK4_uc002lsz.2_Missense_Mutation_p.R191H|PCSK4_uc002lta.2_3'UTR	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 4 (PCSK4), mRNA.	704					proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		GGCTGGGCAGCGGTGGTGGGG	0.711													8	16					0	0	1	0	0	T	1481915	C	T	1481915	3	4	212	1	0	0	0	0	1	0	0	0	11602	768	27	1	160	1	PCSK4	19	1481915	Missense_Mutation	SNP	C	TCGA-HT-7873-01B-11D-2395-08		1481915	57647068	32	9136											
ZNF256	10172	broad.mit.edu	37	chr19	58453810	58453810	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgtaattgtttcctacaTgccccgtctgtatacagttt	9	17	6	9	1	1	0	0	0	1	0	2	0	2	0	3	0	3	4	3	0	5	8			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr19:58453810T>C	uc002qqu.3	-	2	601	c.366A>G	c.(364-366)gcA>gcG	p.A122A	ZNF256_uc010euj.3_5'UTR	NM_005773	NP_005764	Q9Y2P7	ZN256_HUMAN	Homo sapiens zinc finger protein 256 (ZNF256), mRNA.	122					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		GTTTCCTACATGCCCCGTCTG	0.458													50	93					0	0	1	0	0	C	58453810	T	C	58453810	2	2	212	1	0	0	0	0	0	0	0	1	17796	1451	51	3		3	ZNF256	19	58453810	Silent	SNP	T	TCGA-HT-7873-01B-11D-2395-08	56971895	58453810	675173	33	9137											
SSTR4	6754	broad.mit.edu	37	chr20	23017075	23017075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcctctccgacaacttcCgccgattcttccagcgggtt	5	12	8	16	4	2	0	0	0	2	0	6	2	5	0	5	1	2	2	5	1	1	5			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr20:23017075C>T	uc002wsr.2	+	0	1019	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C		NM_001052	NP_001043	P31391	SSR4_HUMAN	Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.	319					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	p.R319H(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CGACAACTTCCGCCGATTCTT	0.587													44	52					0	0	1	0	0	T	23017075	C	T	23017075	3	4	212	1	0	0	0	0	1	0	0	0	15199	652	23	2	957	2	SSTR4	20	23017075	Missense_Mutation	SNP	C	TCGA-HT-7873-01B-11D-2395-08		23017075	40008445	34	9138											
POTEH	23784	broad.mit.edu	37	chr22	16279207	16279207	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactataccttccatatctaTccagtgcatttaaatttgct	12	16	3	10	0	1	0	0	0	1	0	3	0	3	0	3	0	4	2	3	0	7	8			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr22:16279207T>C	uc010gqp.2	-	3	1068	c.1016A>G	c.(1015-1017)gAt>gGt	p.D339G	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Missense_Mutation_p.D58G|POTEH_uc002zlj.1_Missense_Mutation_p.D174G	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	339										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCCATATCTATCCAGTGCATT	0.318													15	258					0	0	1	0	0	C	16279207	T	C	16279207	3	2	212	1	0	0	0	0	1	0	0	0	12267	1435	50	3	649	3	POTEH	22	16279207	Missense_Mutation	SNP	T	TCGA-HT-7873-01B-11D-2395-08		16279207	35025359	35	9139											
ATRX	546	broad.mit.edu	37	chrX	76938029	76938029	+	Frame_Shift_Del	DEL	G	G	-																															ttgctgcttcttaggaagtcGatctcttaattccatgatgg																										TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chrX:76938029delG	uc004ecp.4	-	8	2951	c.2719delC	c.(2719-2721)cgafs	p.R907fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.R869fs|ATRX_uc004eco.4_Frame_Shift_Del_p.R692fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.R839fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.R878fs|ATRX_uc010nly.1_Frame_Shift_Del_p.R852fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	907					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.R907*(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTAGGAAGTCGATCTCTTAAT	0.418			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						154	38	---	---	---	---						-	76938029	G	-	76938029	7	5	212	1	0	1	0	1	0	0	0	0	1208	1066	37	0	4867	0	ATRX	23	76938029	Frame_Shift_Del	DEL	G	TCGA-HT-7873-01B-11D-2395-08		76938029	78332531	36	9140											
SPANXE	171489	broad.mit.edu	37	chrX	140785749	140785749	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttcttttaaagttcctcCtgtagcgaaccactagtatg	10	15	7	9	1	1	0	0	0	1	0	3	1	3	0	3	0	2	4	3	0	6	7			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chrX:140785749C>T	uc004fbq.3	-	1	260	c.167G>A	c.(166-168)aGg>aAg	p.R56K		NM_145665	NP_663698	Q8TAD1	SPNXE_HUMAN	Homo sapiens SPANX family, member E (SPANXE), mRNA.	56						cytoplasm|nucleus						Acute lymphoblastic leukemia(192;7.65e-05)					AAAGTTCCTCCTGTAGCGAAC	0.488													6	169					0	0	1	0	0	T	140785749	C	T	140785749	3	4	212	1	0	0	0	0	1	0	0	0	14989	681	24	3	130	3	SPANXE	23	140785749	Missense_Mutation	SNP	C	TCGA-HT-7873-01B-11D-2395-08	63847720	140785749	14484811	37	9141											
CLCA2	9635	broad.mit.edu	37	chr1	86919122	86919122	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagcgaaagtggggctttagCcgagtcagctcaggaggctc	9	7	16	9	2	2	0	2	0	0	0	3	4	2	1	1	4	3	3	1	4	2	2			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr1:86919122C>T	uc001dlr.4	+	12	2388	c.2226C>T	c.(2224-2226)agC>agT	p.S742S		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	Homo sapiens chloride channel accessory 2 (CLCA2), mRNA.	742					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GGGGCTTTAGCCGAGTCAGCT	0.463													4	51					0	0	1	0	0	T	86919122	C	T	86919122	2	4	213	1	0	0	0	0	0	0	0	1	3458	738	26	3		3	CLCA2	1	86919122	Silent	SNP	C	TCGA-HT-7874-01A-11D-2395-08		86919122	162331499	1	9142											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								15	76					0	0	1	0	0	T	209113112	C	T	209113112	3	4	213	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7874-01A-11D-2395-08		209113112	34086261	2	9143											
PLSCR2	57047	broad.mit.edu	37	chr3	146173222	146173222	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttcttgatttcatacatgTtactactttcaaaactgaat	12	18	4	7	0	3	2	2	2	1	0	3	2	3	2	0	0	4	2	0	0	6	7			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr3:146173222T>C	uc021xfa.1	-	5	784	c.344A>G	c.(343-345)aAc>aGc	p.N115S	PLSCR2_uc003evw.2_Missense_Mutation_p.N111S|PLSCR2_uc003evv.2_Missense_Mutation_p.N42S	NM_001199978	NP_001186907	Q9NRY7	PLS2_HUMAN	Homo sapiens phospholipid scramblase 2 (PLSCR2), transcript variant 1, mRNA.	42					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TTCATACATGTTACTACTTTC	0.323													5	96					0	0	1	0	0	C	146173222	T	C	146173222	3	2	213	1	0	0	0	0	1	0	0	0	12110	1725	60	3	565	3	PLSCR2	3	146173222	Missense_Mutation	SNP	T	TCGA-HT-7874-01A-11D-2395-08		146173222	51849208	3	9144											
PIK3CA	5290	broad.mit.edu	37	chr3	178952073	178952073	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtatttcatgaaacaaaTgaatgatgcacatcatggtg	15	11	10	5	0	2	3	2	3	0	0	2	4	2	4	0	2	2	2	0	2	4	2			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr3:178952073T>C	uc003fjk.3	+	20	3285	c.3128T>C	c.(3127-3129)aTg>aCg	p.M1043T		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	1043	PI3K/PI4K.		M -> I (in cancer; shows an increase in lipid kinase activity).		T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1043I(62)|p.M1043V(21)|p.M1043T(8)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ATGAAACAAATGAATGATGCA	0.368		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			18	84					0	0	1	0	0	C	178952073	T	C	178952073	3	2	213	1	0	0	0	0	1	0	0	0	11913	1464	51	3	3206	3	PIK3CA	3	178952073	Missense_Mutation	SNP	T	TCGA-HT-7874-01A-11D-2395-08	32778851	178952073	19070357	4	9145											
KDR	3791	broad.mit.edu	37	chr4	55960997	55960997	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctacatcactgagggaCttctcctccacaaatccaga	11	11	5	14	0	4	2	1	1	3	1	7	3	6	3	3	1	1	0	3	1	2	3			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr4:55960997C>G	uc003has.3	-	20	3245	c.2943G>C	c.(2941-2943)aaG>aaC	p.K981N	KDR_uc003hat.1_Missense_Mutation_p.K981N	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	981	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CACTGAGGGACTTCTCCTCCA	0.522			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			26	123					0	0	1	0	0	G	55960997	C	G	55960997	3	3	213	1	0	0	0	0	1	0	0	0	8139	564	20	5	1167	5	KDR	4	55960997	Missense_Mutation	SNP	C	TCGA-HT-7874-01A-11D-2395-08		55960997	135193279	5	9146											
UGT2B11	10720	broad.mit.edu	37	chr4	70070265	70070265	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaatgttatcaggttgaTcaaaaaacaatggaatgccc	16	9	9	7	0	2	1	2	1	0	0	2	3	2	2	1	2	3	3	1	2	7	2			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr4:70070265T>C	uc003heh.3	-	4	1202	c.1193A>G	c.(1192-1194)gAt>gGt	p.D398G	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	398					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						ATCAGGTTGATCAAAAAACAA	0.448													14	211					0	0	1	0	0	C	70070265	T	C	70070265	3	2	213	1	0	0	0	0	1	0	0	0	16954	1435	50	3	404	3	UGT2B11	4	70070265	Missense_Mutation	SNP	T	TCGA-HT-7874-01A-11D-2395-08	14109268	70070265	121084011	6	9147											
GAR1	54433	broad.mit.edu	37	chr4	110745576	110745576	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taattttctcttaatcagggAgaggacattaagtgaaacag	15	12	9	5	0	2	2	1	1	1	1	3	4	2	3	0	2	1	0	0	2	4	5			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr4:110745576A>G	uc003hzt.3	+	6	950	c.643A>G	c.(643-645)Aga>Gga	p.R215G	GAR1_uc003hzu.3_Missense_Mutation_p.R215G|GAR1_uc010imi.3_Missense_Mutation_p.R197G	NM_018983	NP_127460	Q9NY12	GAR1_HUMAN	Homo sapiens GAR1 ribonucleoprotein homolog (yeast) (GAR1), transcript variant 1, mRNA.	215	RGG-box 2.				rRNA processing|snRNA pseudouridine synthesis	Cajal body|box H/ACA snoRNP complex	cation channel activity|pseudouridine synthase activity|snoRNA binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						TTAATCAGGGAGAGGACATTA	0.328													4	65					0	0	1	0	0	G	110745576	A	G	110745576	3	3	213	1	0	0	0	0	1	0	0	0	6240	296	11	4	665	4	GAR1	4	110745576	Missense_Mutation	SNP	A	TCGA-HT-7874-01A-11D-2395-08	40675311	110745576	80408700	7	9148											
HEATR7B2	133558	broad.mit.edu	37	chr5	41015559	41015559	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgcaaaccctgcagtCtttccacttccaagtgaatg	9	12	6	14	0	1	1	0	1	1	0	4	1	4	1	4	0	3	2	4	0	3	3			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr5:41015559C>A	uc003jmj.4	-	28	3396	c.2906G>T	c.(2905-2907)aGa>aTa	p.R969I	HEATR7B2_uc003jmi.4_Missense_Mutation_p.R524I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	969							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						ACCCTGCAGTCTTTCCACTTC	0.413													9	36					0.00621372	0.00621372	1	1	0	A	41015559	C	A	41015559	3	1	213	1	0	0	0	0	1	0	0	0	7035	913	32	5	1907	5	HEATR7B2	5	41015559	Missense_Mutation	SNP	C	TCGA-HT-7874-01A-11D-2395-08		41015559	139899701	8	9149											
HNRNPA0	10949	broad.mit.edu	37	chr5	137089402	137089402	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacggtgccaaactgcgaGaagtgctcgatcaggtcgcc	9	7	12	13	4	1	1	1	0	0	1	4	3	2	1	3	2	4	1	3	2	2	0			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr5:137089402G>T	uc003lbt.3	-	0	638	c.354C>A	c.(352-354)ttC>ttA	p.F118L	MYOT_uc011cye.2_Intron	NM_006805	NP_006796	Q13151	ROA0_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A0 (HNRNPA0), mRNA.	118	RRM 2.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAAACTGCGAGAAGTGCTCGA	0.587													31	71					1.06801e-11	1.17071e-11	1	1	0	T	137089402	G	T	137089402	3	4	213	1	0	0	0	0	1	0	0	0	7256	933	33	5	567	5	HNRNPA0	5	137089402	Missense_Mutation	SNP	G	TCGA-HT-7874-01A-11D-2395-08	96073843	137089402	43825858	9	9150											
PCDHAC2	56134	broad.mit.edu	37	chr5	140181778	140181778	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatcccccaatgtcagaTcactgcacagttctactcga	12	9	7	13	1	3	1	2	0	1	1	5	3	4	2	2	1	2	2	2	1	3	2	rs140096953	by1000genomes	TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr5:140181778T>G	uc003lhf.2	+	0	996	c.996T>G	c.(994-996)gaT>gaG	p.D332E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.D332E	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	347	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATGTCAGATCACTGCACAG	0.378													21	99					0	0	1	0	0	G	140181778	T	G	140181778	3	3	213	1	0	0	0	0	1	0	0	0	11533	1432	50	5		5	PCDHAC2	5	140181778	Missense_Mutation	SNP	T	TCGA-HT-7874-01A-11D-2395-08	3092376	140181778	40733482	10	9151											
ARAP3	64411	broad.mit.edu	37	chr5	141035828	141035828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accttccaaaggccactcccGttctggtttagagctctgag	8	11	9	13	1	2	2	0	1	2	1	4	2	4	2	4	2	1	3	4	2	2	4			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr5:141035828G>A	uc003llm.3	-	27	3883	c.3805C>T	c.(3805-3807)Cgg>Tgg	p.R1269W	ARAP3_uc003lll.3_Missense_Mutation_p.R220W|ARAP3_uc011dbe.2_Missense_Mutation_p.R931W|ARAP3_uc003lln.3_Missense_Mutation_p.R1100W	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	1269	PH 3.				cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding	p.R1269L(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGCCACTCCCGTTCTGGTTTA	0.522													7	111					0	0	1	0	0	A	141035828	G	A	141035828	3	1	213	1	0	0	0	0	1	0	0	0	840	1144	40	1	853	1	ARAP3	5	141035828	Missense_Mutation	SNP	G	TCGA-HT-7874-01A-11D-2395-08	854050	141035828	39879432	11	9152											
IP6K3	117283	broad.mit.edu	37	chr6	33690730	33690730	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tggggctctttctggtggttCctgcccatcatagatgacaa	7	13	11	10	0	3	2	1	1	2	1	4	2	4	2	2	4	1	2	2	4	2	3			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr6:33690730C>G	uc010jvf.2	-	6	1536	c.1000G>C	c.(1000-1002)Gaa>Caa	p.E334Q	IP6K3_uc003ofb.2_Missense_Mutation_p.E334Q	NM_001142883	NP_473452	Q96PC2	IP6K3_HUMAN	Homo sapiens inositol hexakisphosphate kinase 3 (IP6K3), transcript variant 2, mRNA.	334					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						TCTGGTGGTTCCTGCCCATCA	0.602													12	71					0	0	1	0	0	G	33690730	C	G	33690730	3	3	213	1	0	0	0	0	1	0	0	0	7790	864	30	5	236	5	IP6K3	6	33690730	Missense_Mutation	SNP	C	TCGA-HT-7874-01A-11D-2395-08		33690730	137424337	12	9153											
REPS1	85021	broad.mit.edu	37	chr6	139229869	139229869	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtcttttgtgtatgttcatCaacttctggccttaattcat	7	19	6	9	1	5	0	3	0	2	0	5	0	5	0	1	1	1	2	1	1	3	7			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr6:139229869C>G	uc003qii.3	-	17	2731	c.2152G>C	c.(2152-2154)Gat>Cat	p.D718H	REPS1_uc003qig.4_Missense_Mutation_p.D691H|REPS1_uc011edr.2_Missense_Mutation_p.D717H|REPS1_uc003qij.3_Missense_Mutation_p.D627H|REPS1_uc003qik.3_Missense_Mutation_p.D324H	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA.	718	Interaction with RALBP1 (By similarity).					coated pit|plasma membrane	SH3 domain binding|calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		GTATGTTCATCAACTTCTGGC	0.388													7	80					0	0	1	0	0	G	139229869	C	G	139229869	3	3	213	1	0	0	0	0	1	0	0	0	13228	826	29	5	250	5	REPS1	6	139229869	Missense_Mutation	SNP	C	TCGA-HT-7874-01A-11D-2395-08	105539139	139229869	31885198	13	9154											
BAZ1B	9031	broad.mit.edu	37	chr7	72925148	72925148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcttgcacgtccaaatgcGctcactgtacctttccaagc	9	11	6	15	2	2	0	1	0	1	0	4	0	4	0	3	0	4	3	3	0	3	3			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr7:72925148G>A	uc003tyc.3	-	1	494	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.	48	Mediates the tyrosine-protein kinase activity.|WAC.				ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				GTCCAAATGCGCTCACTGTAC	0.463													30	87					0	0	1	0	0	A	72925148	G	A	72925148	3	1	213	1	0	0	0	0	1	0	0	0	1330	1087	38	1	4381	1	BAZ1B	7	72925148	Missense_Mutation	SNP	G	TCGA-HT-7874-01A-11D-2395-08		72925148	86213515	14	9155											
LIMK1	3984	broad.mit.edu	37	chr7	73513495	73513495	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatggcaagcgtggacttTcagtctccattgaccccccg	7	10	9	15	2	3	1	2	1	1	0	4	2	3	2	4	2	1	1	4	2	1	2			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr7:73513495T>C	uc003uaa.2	+	4	749	c.535T>C	c.(535-537)Tca>Cca	p.S179P	LIMK1_uc010lbl.2_Non-coding_Transcript|LIMK1_uc003uab.3_Missense_Mutation_p.S145P|LIMK1_uc003uac.1_5'UTR	NM_002314	NP_002305	P53667	LIMK1_HUMAN	Homo sapiens LIM domain kinase 1 (LIMK1), transcript variant 1, mRNA.	179	PDZ.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				GCGTGGACTTTCAGTCTCCAT	0.677													31	132					0	0	1	0	0	C	73513495	T	C	73513495	3	2	213	1	0	0	0	0	1	0	0	0	8801	1783	62	3	553	3	LIMK1	7	73513495	Missense_Mutation	SNP	T	TCGA-HT-7874-01A-11D-2395-08	588347	73513495	85625168	15	9156											
MYOF	26509	broad.mit.edu	37	chr10	95072807	95072807	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggcgccatctttctctgcGtagcatggccaccatccttt	5	12	9	15	3	2	0	0	0	2	0	4	0	3	0	4	2	2	2	4	2	1	3			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr10:95072807G>A	uc001kin.3	-	50	5982	c.5859C>T	c.(5857-5859)taC>taT	p.Y1953Y	MYOF_uc001kio.3_Silent_p.Y1940Y|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1953					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTTTCTCTGCGTAGCATGGCC	0.473													28	436					0	0	1	0	0	A	95072807	G	A	95072807	2	1	213	1	0	0	0	0	0	0	0	1	10089	1140	40	1		1	MYOF	10	95072807	Silent	SNP	G	TCGA-HT-7874-01A-11D-2395-08		95072807	40461940	16	9157											
OR56A5	390084	broad.mit.edu	37	chr11	5989293	5989293	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaaagatggcagccctagcGacaaattgatcagtgatgat	15	8	10	8	1	1	4	1	3	0	1	1	5	1	4	1	1	2	1	1	1	3	2	rs7113548	by1000genomes	TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr11:5989293G>A	uc010qzu.2	-	0	432	c.432C>T	c.(430-432)gtC>gtT	p.V144V		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA.	144						integral to membrane|plasma membrane	olfactory receptor activity										CAGCCCTAGCGACAAATTGAT	0.483													3	24					0	0	1	0	0	A	5989293	G	A	5989293	2	1	213	1	0	0	0	0	0	0	0	1	11136	1045	37	2		2	OR56A5	11	5989293	Silent	SNP	G	TCGA-HT-7874-01A-11D-2395-08		5989293	129017223	17	9158											
CCDC88B	283234	broad.mit.edu	37	chr11	64112395	64112395	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgggagcaagcccggctgcgGgaggcagtggaggctgctgg	6	5	21	9	2	0	0	0	0	0	0	0	3	0	3	1	7	4	5	1	7	1	0			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr11:64112395G>A	uc001nzy.3	+	13	2431	c.2382G>A	c.(2380-2382)cgG>cgA	p.R794R	CCDC88B_uc009ypo.2_Silent_p.R791R|CCDC88B_uc001nzz.1_Silent_p.R443R	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	794					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCCGGCTGCGGGAGGCAGTGG	0.741													3	6					0	0	1	0	0	A	64112395	G	A	64112395	2	1	213	1	0	0	0	0	0	0	0	1	2864	1219	43	3		3	CCDC88B	11	64112395	Silent	SNP	G	TCGA-HT-7874-01A-11D-2395-08	58123102	64112395	70894121	18	9159											
EP400	57634	broad.mit.edu	37	chr12	132466834	132466834	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgcagtttgcacagcaGccgcaagtggtagaggccca	9	6	14	12	2	0	1	0	0	0	1	0	1	0	1	2	2	4	7	2	2	2	2			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr12:132466834G>A	uc001ujn.3	+	4	1892	c.1740G>A	c.(1738-1740)caG>caA	p.Q580Q	EP400_uc021rgq.1_Silent_p.Q579Q|EP400_uc001ujm.3_Silent_p.Q580Q|EP400_uc001ujj.2_Silent_p.Q543Q|EP400_uc001ujk.3_Silent_p.Q616Q	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	616					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TTGCACAGCAGCCGCAAGTGG	0.657													18	99					0	0	1	0	0	A	132466834	G	A	132466834	2	1	213	1	0	0	0	0	0	0	0	1	5149	962	34	3		3	EP400	12	132466834	Silent	SNP	G	TCGA-HT-7874-01A-11D-2395-08		132466834	1385061	19	9160											
CYP4F3	4051	broad.mit.edu	37	chr19	15769595	15769595	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagaggtcacctctggcttTtattcccttctcagcagggc	6	12	11	12	0	3	1	2	0	2	1	5	2	4	1	2	4	1	2	2	4	1	4			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr19:15769595T>A	uc010xok.2	+	11	1423	c.1373T>A	c.(1372-1374)tTt>tAt	p.F458Y	CYP4F3_uc010xol.2_Missense_Mutation_p.F458Y|CYP4F3_uc002nbj.3_Missense_Mutation_p.F458Y|CYP4F3_uc010xom.2_Missense_Mutation_p.F309Y|CYP4F3_uc002nbk.3_Missense_Mutation_p.F458Y|CYP4F3_uc010xon.2_Missense_Mutation_p.F168Y	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	458					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CCTCTGGCTTTTATTCCCTTC	0.592													7	135					0	0	1	0	0	A	15769595	T	A	15769595	3	1	213	1	0	0	0	0	1	0	0	0	4190	1841	64	5	1415	5	CYP4F3	19	15769595	Missense_Mutation	SNP	T	TCGA-HT-7874-01A-11D-2395-08		15769595	43359388	20	9161											
CCDC97	90324	broad.mit.edu	37	chr19	41826329	41826329	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggagttcaccagccgcAtgcaccagcgcttcctagat	10	7	11	13	2	1	2	1	0	0	2	2	4	2	3	4	1	3	4	4	1	1	3			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr19:41826329A>G	uc002oqg.3	+	3	987	c.865A>G	c.(865-867)Atg>Gtg	p.M289V		NM_052848	NP_443080	Q96F63	CCD97_HUMAN	Homo sapiens coiled-coil domain containing 97 (CCDC97), mRNA.	289										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						CACCAGCCGCATGCACCAGCG	0.637													10	44					0	0	1	0	0	G	41826329	A	G	41826329	3	3	213	1	0	0	0	0	1	0	0	0	2875	217	8	3	879	3	CCDC97	19	41826329	Missense_Mutation	SNP	A	TCGA-HT-7874-01A-11D-2395-08	26056734	41826329	17302654	21	9162											
PRKCG	5582	broad.mit.edu	37	chr19	54395814	54395814	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcgtggaggtgtgggaCtgggaccggacctcccgcaa	7	6	16	12	3	1	0	1	0	0	0	2	4	2	4	3	5	1	1	3	5	1	0			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr19:54395814C>G	uc002qcq.1	+	6	1020	c.738C>G	c.(736-738)gaC>gaG	p.D246E	PRKCG_uc010eqz.1_Missense_Mutation_p.D246E|PRKCG_uc010yef.1_Missense_Mutation_p.D246E|PRKCG_uc010yeg.1_Missense_Mutation_p.D246E|PRKCG_uc010yeh.1_Missense_Mutation_p.D133E|Mir_324_uc021vbc.1_5'Flank	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	246	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		AGGTGTGGGACTGGGACCGGA	0.672													4	19					0	0	1	0	0	G	54395814	C	G	54395814	3	3	213	1	0	0	0	0	1	0	0	0	12512	564	20	5	764	5	PRKCG	19	54395814	Missense_Mutation	SNP	C	TCGA-HT-7874-01A-11D-2395-08	12569485	54395814	4733169	22	9163											
NFATC2	4773	broad.mit.edu	37	chr20	50139839	50139839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggggggatcccacaaggcGagtccgtggcgaggctgttc	6	7	18	10	3	0	0	0	0	0	0	3	3	2	1	2	6	0	2	2	6	1	1			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr20:50139839G>A	uc002xwd.3	-	1	1161	c.941C>T	c.(940-942)tCg>tTg	p.S314L	NFATC2_uc002xwc.3_Missense_Mutation_p.S314L|NFATC2_uc010zyv.2_Missense_Mutation_p.S95L|NFATC2_uc010zyw.2_Missense_Mutation_p.S95L|NFATC2_uc002xwe.3_Missense_Mutation_p.S294L|NFATC2_uc010zyx.2_Missense_Mutation_p.S294L|NFATC2_uc010zyy.2_Missense_Mutation_p.S95L|NFATC2_uc010zyz.2_Missense_Mutation_p.S95L	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	314					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CCCACAAGGCGAGTCCGTGGC	0.687													5	21					0	0	1	0	0	A	50139839	G	A	50139839	3	1	213	1	0	0	0	0	1	0	0	0	10362	1059	37	2	1920	2	NFATC2	20	50139839	Missense_Mutation	SNP	G	TCGA-HT-7874-01A-11D-2395-08		50139839	12885681	23	9164											
BTG3	10950	broad.mit.edu	37	chr21	18966541	18966541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgatttggataaccaaatGgaacaggaggaggatagtga	15	8	13	5	0	0	2	0	2	0	0	0	7	0	7	2	5	2	0	2	5	4	3			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr21:18966541G>A	uc002ykl.3	-	5	1021	c.761C>T	c.(760-762)cCa>cTa	p.P254L	BTG3_uc002ykk.3_Missense_Mutation_p.P210L	NM_001130914	NP_001124386	Q14201	BTG3_HUMAN	Homo sapiens BTG family, member 3 (BTG3), transcript variant 1, mRNA.	210					negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		ATAACCAAATGGAACAGGAGG	0.458													5	67					0	0	1	0	0	A	18966541	G	A	18966541	3	1	213	1	0	0	0	0	1	0	0	0	1555	1348	47	3	133	3	BTG3	21	18966541	Missense_Mutation	SNP	G	TCGA-HT-7874-01A-11D-2395-08		18966541	29163354	24	9165											
SAMM50	25813	broad.mit.edu	37	chr22	44377307	44377307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctggggcggaatgttggtaCccattggtgataagccgtca	8	11	14	8	2	2	1	1	1	1	0	2	2	2	2	2	5	2	2	2	5	3	4			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr22:44377307C>T	uc003bej.3	+	10	1170	c.973C>T	c.(973-975)Ccc>Tcc	p.P325S	SAMM50_uc011aqd.2_Missense_Mutation_p.P115S|SAMM50_uc003bek.3_Missense_Mutation_p.P130S	NM_015380	NP_056195	Q9Y512	SAM50_HUMAN	Homo sapiens sorting and assembly machinery component 50 homolog (S. cerevisiae) (SAMM50), mRNA.	325					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding	p.P325P(1)		endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				AATGTTGGTACCCATTGGTGA	0.388													6	75					0	0	1	0	0	T	44377307	C	T	44377307	3	4	213	1	0	0	0	0	1	0	0	0	13829	507	18	3	1015	3	SAMM50	22	44377307	Missense_Mutation	SNP	C	TCGA-HT-7874-01A-11D-2395-08		44377307	6927259	25	9166											
ZNF645	158506	broad.mit.edu	37	chrX	22291314	22291314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctattaaaatctatgggcGaataattccgtgcaagcatg	13	11	9	8	2	1	0	0	0	1	0	2	1	2	0	2	1	2	2	2	1	7	5			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chrX:22291314G>A	uc004dai.2	+	0	285	c.206G>A	c.(205-207)cGa>cAa	p.R69Q		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	Homo sapiens zinc finger protein 645 (ZNF645), mRNA.	69						intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						ATCTATGGGCGAATAATTCCG	0.383													24	93					0	0	1	0	0	A	22291314	G	A	22291314	3	1	213	1	0	0	0	0	1	0	0	0	18058	1058	37	2	208	2	ZNF645	23	22291314	Missense_Mutation	SNP	G	TCGA-HT-7874-01A-11D-2395-08		22291314	132979246	26	9167											
DGKK	139189	broad.mit.edu	37	chrX	50127815	50127815	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtctgtctgctttcctcAtccagagctatagagaaaag	11	13	8	9	0	3	2	1	0	2	2	5	3	5	2	2	0	2	2	2	0	4	4			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chrX:50127815A>C	uc010njr.2	-	15	2399	c.2355T>G	c.(2353-2355)gaT>gaG	p.D785E		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	785					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)					TGCTTTCCTCATCCAGAGCTA	0.453													13	92					0	0	1	0	0	C	50127815	A	C	50127815	3	2	213	1	0	0	0	0	1	0	0	0	4472	214	8	5	1511	5	DGKK	23	50127815	Missense_Mutation	SNP	A	TCGA-HT-7874-01A-11D-2395-08	27836501	50127815	105142745	27	9168											
SHROOM4	57477	broad.mit.edu	37	chrX	50377684	50377685	+	Frame_Shift_Ins	INS	-	-	G																															ggtcatgggttcctcctgtaINSggggggcatggacttttctt																										TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chrX:50377684_50377685insG	uc004dpe.2	-	3	1414_1415	c.1388_1389insC	c.(1387-1389)cctfs	p.P463fs	SHROOM4_uc004dpd.3_Non-coding_Transcript|SHROOM4_uc004dpf.1_Frame_Shift_Ins_p.P347fs	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	463					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TTCCTCCTGTAGGGGGGCATGG	0.554													13	135	---	---	---	---						G	50377685	-	G	50377684	7	5	213	1	0	1	1	0	0	0	0	0	14296	407	15	0	3116	0	SHROOM4	23	50377684	Frame_Shift_Ins	INS	-	TCGA-HT-7874-01A-11D-2395-08	249869	50377684	104892876	28	9169											
ZCCHC5	203430	broad.mit.edu	37	chrX	77913195	77913195	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatctccactgaaggttaaAgtgtattgcagggggaaatc	13	10	12	6	0	1	1	0	1	1	0	3	3	1	2	1	3	1	3	1	3	6	3			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chrX:77913195A>T	uc022bzi.1	-	0	723	c.723T>A	c.(721-723)acT>acA	p.T241T	ZCCHC5_uc004edc.1_Silent_p.T241T	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	241							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TGAAGGTTAAAGTGTATTGCA	0.502													9	33					0	0	1	0	0	T	77913195	A	T	77913195	2	4	213	1	0	0	0	0	0	0	0	1	17588	59	3	5		5	ZCCHC5	23	77913195	Silent	SNP	A	TCGA-HT-7874-01A-11D-2395-08	27535511	77913195	77357365	29	9170											
PCDH19	57526	broad.mit.edu	37	chrX	99662610	99662610	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgacggtgaccttgcagTgtgccgggatggaattgggc	6	9	17	9	3	0	2	0	2	0	0	0	4	0	4	2	4	2	2	2	4	1	2			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chrX:99662610T>C	uc010nmz.3	-	0	2662	c.986A>G	c.(985-987)cAc>cGc	p.H329R	PCDH19_uc004efw.4_Missense_Mutation_p.H329R|PCDH19_uc004efx.4_Missense_Mutation_p.H329R	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	329	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GACCTTGCAGTGTGCCGGGAT	0.592													18	64					0	0	1	0	0	C	99662610	T	C	99662610	3	2	213	1	0	0	0	0	1	0	0	0	11514	1696	59	3	2484	3	PCDH19	23	99662610	Missense_Mutation	SNP	T	TCGA-HT-7874-01A-11D-2395-08	21749415	99662610	55607950	30	9171											
MAGEC1	9947	broad.mit.edu	37	chrX	140994428	140994428	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctctccagattcctatgaCctcctccttctcctctactt	5	16	2	18	0	3	2	0	1	3	1	9	2	7	2	7	0	1	0	7	0	2	5	rs72236299		TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chrX:140994428C>A	uc004fbt.3	+	3	1562	c.1238C>A	c.(1237-1239)aCc>aAc	p.T413N	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.T72N	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	413							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ATTCCTATGACCTCCTCCTTC	0.463										HNSCC(15;0.026)			11	316					2.80697e-09	3.01882e-09	1	1	0	A	140994428	C	A	140994428	3	1	213	1	0	0	0	0	1	0	0	0	9180	507	18	5	1244	5	MAGEC1	23	140994428	Missense_Mutation	SNP	C	TCGA-HT-7874-01A-11D-2395-08	41331818	140994428	14276132	31	9172											
TCEB3	6924	broad.mit.edu	37	chr1	24080638	24080638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctggatttactgggcgcaGaatgaattccaagatgcagg	12	9	13	7	1	0	3	0	1	0	2	1	4	1	4	1	3	3	3	1	3	4	3			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr1:24080638G>A	uc001bho.3	+	5	1724	c.1664G>A	c.(1663-1665)aGa>aAa	p.R555K		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	Homo sapiens transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) (TCEB3), mRNA.	555	Activation domain (By similarity).				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		ACTGGGCGCAGAATGAATTCC	0.448													45	7					0	0	1	0	0	A	24080638	G	A	24080638	3	1	214	1	0	0	0	0	1	0	0	0	15678	942	33	3	1686	3	TCEB3	1	24080638	Missense_Mutation	SNP	G	TCGA-HT-7875-01A-11D-2395-08		24080638	225169983	1	9173											
ZNF683	257101	broad.mit.edu	37	chr1	26691295	26691295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcagggtctcccaccgagCgctggggtgccccagctcat	7	6	13	15	2	2	0	1	0	1	0	3	1	2	0	4	3	4	3	4	3	1	0			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr1:26691295C>T	uc001bmg.1	-	3	860	c.742G>A	c.(742-744)Gct>Act	p.A248T	ZNF683_uc001bmh.1_Missense_Mutation_p.A248T|ZNF683_uc009vsj.1_Missense_Mutation_p.A248T	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L243_W250delLGHPSARW(2)|p.L228_W235delLGHPSARW(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		TCCCACCGAGCGCTGGGGTGC	0.642													51	7					0	0	1	0	0	T	26691295	C	T	26691295	3	4	214	1	0	0	0	0	1	0	0	0	18087	768	27	1	784	1	ZNF683	1	26691295	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	2610657	26691295	222559326	2	9174											
VAV3	10451	broad.mit.edu	37	chr1	108507542	108507544	+	Splice_Site	DEL	GCC	GCC	-																															gggcgggcggcaaggatgcgGccgccgccgccgccgccgcg																								rs71796067		TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr1:108507542_108507544delGCC	uc001dvk.1	-	1	1	c.-53_splice	c.e1-1		VAV3_uc010ouw.1_Splice_Site|VAV3_uc001dvl.1_5'Flank|VAV3_uc010oux.1_Splice_Site	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.						B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CAAGGATGCGgccgccgccgccg	0.773													2	4	---	---	---	---						-	108507544	GCC	-	108507542	8	5	214	1	0	1	0	1	0	0	1	0	17130	1218	42	0		0	VAV3	1	108507542	Splice_Site	DEL	GCC	TCGA-HT-7875-01A-11D-2395-08	81816247	108507542	140743079	3	9175											
FLG	2312	broad.mit.edu	37	chr1	152286155	152286155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgcagatgaagcttgccCgcgcccagtggctgagtgtc	7	8	14	12	2	0	3	0	2	0	1	1	4	0	3	2	1	3	3	2	1	1	1			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr1:152286155C>T	uc001ezu.1	-	2	1243	c.1207G>A	c.(1207-1209)Ggg>Agg	p.G403R	AK056431_uc001ezv.3_Non-coding_Transcript	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	403	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R402S(1)|p.R402R(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAAGCTTGCCCGCGCCCAGTG	0.562									Ichthyosis				116	499					0	0	1	0	0	T	152286155	C	T	152286155	3	4	214	1	0	0	0	0	1	0	0	0	5922	652	23	2	10982	2	FLG	1	152286155	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	43778613	152286155	96964466	4	9176											
XCL2	6846	broad.mit.edu	37	chr1	168510202	168510202	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agagactactagccagtcagGgtcacagctgtattggtcga	11	9	12	9	1	2	1	2	0	0	1	3	3	2	1	1	2	3	2	1	2	3	4	rs149372418	byFrequency	TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr1:168510202G>A	uc001gfn.4	-	2	366	c.333C>T	c.(331-333)acC>acT	p.T111T		NM_003175	NP_003166	Q9UBD3	XCL2_HUMAN	Homo sapiens chemokine (C motif) ligand 2 (XCL2), mRNA.	111					blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity	p.T111T(2)		large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					AGCCAGTCAGGGTCACAGCTG	0.498													4	82					0	0	1	0	0	A	168510202	G	A	168510202	2	1	214	1	0	0	0	0	0	0	0	1	17421	1219	43	3		3	XCL2	1	168510202	Silent	SNP	G	TCGA-HT-7875-01A-11D-2395-08	16224047	168510202	80740419	5	9177											
ARID4B	51742	broad.mit.edu	37	chr1	235345098	235345098	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccagtggttctgatactgTtacagaagactgctgccggc	9	10	12	10	1	1	3	0	1	1	2	1	3	1	3	2	2	5	3	2	2	3	3			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr1:235345098T>C	uc021pks.1	-	19	3513	c.3136A>G	c.(3136-3138)Aca>Gca	p.T1046A	ARID4B_uc001hwq.3_Missense_Mutation_p.T1046A|ARID4B_uc001hwr.3_Missense_Mutation_p.T960A|ARID4B_uc001hws.4_Missense_Mutation_p.T960A|RBM34_uc001hwp.3_Non-coding_Transcript|ARID4B_uc001hwt.4_Missense_Mutation_p.T727A	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	1046					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCTGATACTGTTACAGAAGAC	0.473													34	28					0	0	1	0	0	C	235345098	T	C	235345098	3	2	214	1	0	0	0	0	1	0	0	0	920	1725	60	3	822	3	ARID4B	1	235345098	Missense_Mutation	SNP	T	TCGA-HT-7875-01A-11D-2395-08	66834896	235345098	13905523	6	9178											
TPO	7173	broad.mit.edu	37	chr2	1491722	1491722	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagcaccttggatctggCgtccatcaacctgcagaggg	8	9	11	13	1	2	1	1	0	1	1	4	2	4	2	4	3	3	2	4	3	1	2			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr2:1491722C>A	uc002qwr.3	+	9	1813	c.1727C>A	c.(1726-1728)gCg>gAg	p.A576E	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.A576E|TPO_uc002qwx.3_Intron|TPO_uc002qwu.3_Intron|TPO_uc010yio.2_Missense_Mutation_p.A403E|TPO_uc010yip.2_Missense_Mutation_p.A576E|TPO_uc002qwy.1_Intron|TPO_uc002qwz.3_Intron	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	576					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.A576E(2)|p.A576A(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TTGGATCTGGCGTCCATCAAC	0.592													59	63					2.44813e-32	2.66288e-32	1	1	0	A	1491722	C	A	1491722	3	1	214	1	0	0	0	0	1	0	0	0	16407	768	27	5	1761	5	TPO	2	1491722	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08		1491722	241707651	7	9179											
MBD5	55777	broad.mit.edu	37	chr2	149227787	149227787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctttaagaggggaagccGtgcactgccacaatgcaaac	13	7	10	11	1	0	1	0	0	0	1	0	2	0	2	3	2	6	2	3	2	5	3			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr2:149227787G>A	uc002twm.4	+	8	3272	c.2275G>A	c.(2275-2277)Gtg>Atg	p.V759M	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_Missense_Mutation_p.V200M	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	759						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AGGGGAAGCCGTGCACTGCCA	0.448													51	57					0	0	1	0	0	A	149227787	G	A	149227787	3	1	214	1	0	0	0	0	1	0	0	0	9347	1145	40	1	2289	1	MBD5	2	149227787	Missense_Mutation	SNP	G	TCGA-HT-7875-01A-11D-2395-08	147736065	149227787	93971586	8	9180											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								25	47					0	0	1	0	0	T	209113112	C	T	209113112	3	4	214	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	59885325	209113112	34086261	9	9181											
FAM124B	79843	broad.mit.edu	37	chr2	225266211	225266211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggggtagcactgccatggcGaatgctggagagagtccagg	9	7	17	8	1	0	1	0	0	0	1	1	4	1	2	2	5	3	3	2	5	2	1			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr2:225266211G>A	uc002vnx.3	-	0	501	c.275C>T	c.(274-276)tCg>tTg	p.S92L	FAM124B_uc002vnw.3_Missense_Mutation_p.S92L	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN	Homo sapiens family with sequence similarity 124B (FAM124B), transcript variant 1, mRNA.	92							protein binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		CTGCCATGGCGAATGCTGGAG	0.582													31	36					0	0	1	0	0	A	225266211	G	A	225266211	3	1	214	1	0	0	0	0	1	0	0	0	5426	1059	37	2	1191	2	FAM124B	2	225266211	Missense_Mutation	SNP	G	TCGA-HT-7875-01A-11D-2395-08	16153099	225266211	17933162	10	9182											
COL7A1	1294	broad.mit.edu	37	chr3	48609570	48609570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccacctcaccttctcgcctCgcggccctggcagtcctcgg	3	8	9	21	4	2	0	1	0	1	0	6	0	3	0	6	3	0	1	6	3	0	1			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr3:48609570C>T	uc003ctz.2	-	89	7014	c.7013G>A	c.(7012-7014)cGa>cAa	p.R2338Q		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2338	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.R2338Q(2)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTTCTCGCCTCGCGGCCCTGG	0.612													25	29					0	0	1	0	0	T	48609570	C	T	48609570	3	4	214	1	0	0	0	0	1	0	0	0	3704	884	31	2	1937	2	COL7A1	3	48609570	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08		48609570	149412860	11	9183											
UBA7	7318	broad.mit.edu	37	chr3	49848836	49848836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtggctcttcctctgtcCgcttcagtggttccaggtcc	3	13	10	15	1	3	0	1	0	2	0	7	0	7	0	5	3	0	3	5	3	0	3	rs12486358		TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr3:49848836C>T	uc003cxr.3	-	8	1163	c.992G>A	c.(991-993)cGg>cAg	p.R331Q		NM_003335	NP_003326	P41226	UBA7_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 7 (UBA7), mRNA.	331	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ttccTCTGTCCGCTTCAGTGG	0.602													5	34					0	0	1	0	0	T	49848836	C	T	49848836	3	4	214	1	0	0	0	0	1	0	0	0	16830	652	23	2	2110	2	UBA7	3	49848836	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	1239266	49848836	148173594	12	9184											
VGLL3	389136	broad.mit.edu	37	chr3	87018080	87018080	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcagacacagcagggggAggggctgggccagtctgatg	9	5	18	9	0	2	2	1	1	1	1	2	4	2	3	1	5	1	2	1	5	0	0			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr3:87018080A>G	uc003dqn.3	-	2	961	c.597T>C	c.(595-597)ccT>ccC	p.P199P		NM_016206	NP_057290	A8MV65	VGLL3_HUMAN	Homo sapiens vestigial like 3 (Drosophila) (VGLL3), mRNA.	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CAGCAGGGGGAGGGGCTGGGC	0.587													6	189					0	0	1	0	0	G	87018080	A	G	87018080	2	3	214	1	0	0	0	0	0	0	0	1	17157	291	11	4		4	VGLL3	3	87018080	Silent	SNP	A	TCGA-HT-7875-01A-11D-2395-08	37169244	87018080	111004350	13	9185											
ZNF654	55279	broad.mit.edu	37	chr3	88188745	88188748	+	Frame_Shift_Del	DEL	ACTT	ACTT	-																															aaggatttggaagtggagacActtactgcttctagtgaagg																										TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr3:88188745_88188748delACTT	uc003dqv.3	+	0	484_487	c.285_288delACTT	c.(283-288)acacttfs	p.T95fs	CGGBP1_uc003dqu.3_Intron	NM_018293	NP_060763	Q8IZM8	ZN654_HUMAN	Homo sapiens zinc finger protein 654 (ZNF654), mRNA.	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P96P(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AAGTGGAGACACTTACTGCTTCTA	0.358													8	43	---	---	---	---						-	88188748	ACTT	-	88188745	7	5	214	1	0	1	0	1	0	0	0	0	18064	146	6	0	287	0	ZNF654	3	88188745	Frame_Shift_Del	DEL	ACTT	TCGA-HT-7875-01A-11D-2395-08	1170665	88188745	109833685	14	9186											
HTT	3064	broad.mit.edu	37	chr4	3076604	3076606	+	In_Frame_Del	DEL	CAG	CAG	-																															tcgagtccctcaagtccttcCagcagcagcagcagcagcag																								rs71180116		TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr4:3076604_3076606delCAG	uc021xkv.1	+	0	197_199	c.52_54delCAG	c.(52-54)cagdel	p.Q38del	HTT-AS1_uc021xku.1_5'Flank	NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	38	Poly-Gln.				Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CAAGTCCTTCcagcagcagcagc	0.704													3	4	---	---	---	---						-	3076606	CAG	-	3076604	7	5	214	1	0	1	0	1	0	0	0	0	7457	595	21	0	54	0	HTT	4	3076604	In_Frame_Del	DEL	CAG	TCGA-HT-7875-01A-11D-2395-08		3076604	188077672	15	9187											
GABRA4	2557	broad.mit.edu	37	chr4	46979112	46979112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagggcatgcatgaccatcCatgggaaaatccaccaatct	15	7	8	11	0	1	1	0	1	1	0	3	2	3	2	4	2	1	2	4	2	4	0			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr4:46979112C>T	uc003gxg.3	-	4	1526	c.543G>A	c.(541-543)atG>atA	p.M181I	GABRA4_uc021xnz.1_Missense_Mutation_p.M162I|GABRA4_uc021xoa.1_Missense_Mutation_p.M162I	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	181					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CATGACCATCCATGGGAAAAT	0.333													7	35					0	0	1	0	0	T	46979112	C	T	46979112	3	4	214	1	0	0	0	0	1	0	0	0	6163	594	21	3	1141	3	GABRA4	4	46979112	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	43902508	46979112	144175164	16	9188											
CLOCK	9575	broad.mit.edu	37	chr4	56301648	56301648	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccggctgagttgctgctgTtgctgagactgatgttgctg	4	14	15	8	1	0	3	0	3	0	1	0	4	0	3	1	1	5	8	1	1	0	3			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr4:56301648T>C	uc003haz.1	-	23	3401	c.2475A>G	c.(2473-2475)caA>caG	p.Q825Q	CLOCK_uc003hba.1_Silent_p.Q825Q|CLOCK_uc010igu.1_Non-coding_Transcript	NM_004898	NP_004889	O15516	CLOCK_HUMAN	Homo sapiens clock homolog (mouse) (CLOCK), mRNA.	825	Poly-Gln.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			GTTGCTGCTGTTGCTGAGACT	0.527													55	76					0	0	1	0	0	C	56301648	T	C	56301648	2	2	214	1	0	0	0	0	0	0	0	1	3549	1722	60	3		3	CLOCK	4	56301648	Silent	SNP	T	TCGA-HT-7875-01A-11D-2395-08	9322536	56301648	134852628	17	9189											
NPFFR2	10886	broad.mit.edu	37	chr4	72994632	72994632	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acactgctggacaatattatAgcaggtatgttggcttttgt	10	15	10	6	0	0	0	0	0	0	0	0	1	0	1	0	3	2	5	0	3	5	7			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr4:72994632A>T	uc003hgg.2	+	1	728	c.630A>T	c.(628-630)atA>atT	p.I210I	NPFFR2_uc010iig.2_Intron|NPFFR2_uc003hgi.2_Silent_p.I111I|NPFFR2_uc003hgh.2_Silent_p.I108I	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	210					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			ACAATATTATAGCAGGTATGT	0.368													37	55					0	0	1	0	0	T	72994632	A	T	72994632	2	4	214	1	0	0	0	0	0	0	0	1	10578	410	15	5		5	NPFFR2	4	72994632	Silent	SNP	A	TCGA-HT-7875-01A-11D-2395-08	16692984	72994632	118159644	18	9190											
INPP4B	8821	broad.mit.edu	37	chr4	143094941	143094941	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgttttcaggtgaataGtaaataaactggtatccggt	11	14	11	5	1	1	1	1	1	0	0	2	1	2	1	1	3	1	4	1	3	7	6			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr4:143094941G>A	uc003iix.4	-	16	1798	c.1203C>T	c.(1201-1203)taC>taT	p.Y401Y	INPP4B_uc003iiw.4_Silent_p.Y401Y|INPP4B_uc011chm.2_Non-coding_Transcript|INPP4B_uc011chn.1_Silent_p.Y216Y|INPP4B_uc011cho.1_Non-coding_Transcript|INPP4B_uc011chp.1_Silent_p.Y272Y	NM_003866	NP_003857	O15327	INP4B_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type II, 105kDa (INPP4B), transcript variant 1, mRNA.	401					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					CAGGTGAATAGTAAATAAACT	0.368													7	117					0	0	1	0	0	A	143094941	G	A	143094941	2	1	214	1	0	0	0	0	0	0	0	1	7753	1024	36	3		3	INPP4B	4	143094941	Silent	SNP	G	TCGA-HT-7875-01A-11D-2395-08	70100309	143094941	48059335	19	9191											
MARCH6	10299	broad.mit.edu	37	chr5	10426541	10426541	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaacattgaccttcactatAttgttcgtaaactggcagct	11	13	8	9	1	1	1	1	1	0	0	2	2	1	2	1	2	3	4	1	2	5	7			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr5:10426541A>T	uc003jet.1	+	23	2596	c.2413A>T	c.(2413-2415)Att>Ttt	p.I805F	MARCH6_uc011cmu.1_Missense_Mutation_p.I757F|MARCH6_uc003jeu.1_Missense_Mutation_p.I503F|MARCH6_uc011cmv.1_Missense_Mutation_p.I700F	NM_005885	NP_005876	O60337	MARH6_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA.	805					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CCTTCACTATATTGTTCGTAA	0.403													17	153					0	0	1	0	0	T	10426541	A	T	10426541	3	4	214	1	0	0	0	0	1	0	0	0	9305	449	16	5	2507	5	MARCH6	5	10426541	Missense_Mutation	SNP	A	TCGA-HT-7875-01A-11D-2395-08		10426541	170488719	20	9192											
FGFR4	2264	broad.mit.edu	37	chr5	176520245	176520245	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgctcctgctgctggccggGctgtatcgagggcaggcgct	3	9	17	12	3	0	0	0	0	0	0	2	1	1	0	2	4	3	7	2	4	1	1			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr5:176520245G>A	uc003mfl.3	+	8	1331	c.1164G>A	c.(1162-1164)ggG>ggA	p.G388G	FGFR4_uc003mfm.3_Silent_p.G388G|FGFR4_uc011dfu.2_Intron|FGFR4_uc011dfw.1_3'UTR|FGFR4_uc003mfo.3_Intron	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	388			G -> R (in dbSNP:rs351855).		insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	TGCTGGCCGGGCTGTATCGAG	0.701										TSP Lung(9;0.080)			4	67					0	0	1	0	0	A	176520245	G	A	176520245	2	1	214	1	0	0	0	0	0	0	0	1	5868	1190	42	3		3	FGFR4	5	176520245	Silent	SNP	G	TCGA-HT-7875-01A-11D-2395-08	166093704	176520245	4395015	21	9193											
SYCP2L	221711	broad.mit.edu	37	chr6	10955433	10955436	+	Frame_Shift_Del	DEL	AAGA	AAGA	-																															atcccctttctcaataacagAagaaagagagttgccaggta																										TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr6:10955433_10955436delAAGA	uc003mzo.3	+	23	2335_2338	c.2039_2042delAAGA	c.(2038-2043)gaagaafs	p.E680fs	SYCP2L_uc010jow.3_Frame_Shift_Del_p.E300fs	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	680						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TCAATAACAGAAGAAAGAGAGTTG	0.451											OREG0017189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	101	---	---	---	---						-	10955436	AAGA	-	10955433	7	5	214	1	0	1	0	1	0	0	0	0	15430	246	9	0	2133	0	SYCP2L	6	10955433	Frame_Shift_Del	DEL	AAGA	TCGA-HT-7875-01A-11D-2395-08		10955433	160159634	22	9194											
TMEM184A	202915	broad.mit.edu	37	chr7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC																															ctcccgccggagccgccgctINSggggtgggtgccgggcctgg																								rs3837151	by1000genomes	TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr7:1586662_1586663insGCC	uc003skv.4	-	8	1484_1485	c.1167_1168insGGC	c.(1165-1170)insGGC	p.389_390insG	TMEM184A_uc003skt.4_In_Frame_Ins_p.368_369insG|TMEM184A_uc021zyr.1_In_Frame_Ins_p.194_195insG	NM_001097620	NP_001091089	Q6ZMB5	T184A_HUMAN	Homo sapiens transmembrane protein 184A (TMEM184A), mRNA.	389						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703													12	55	---	---	---	---						GCC	1586663	-	GCC	1586662	7	5	214	1	0	1	1	0	0	0	0	0	16101	1580	55	0	77	0	TMEM184A	7	1586662	In_Frame_Ins	INS	-	TCGA-HT-7875-01A-11D-2395-08		1586662	157552001	23	9195											
MUC17	140453	broad.mit.edu	37	chr7	100678653	100678653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgaagtcagttcatctcCtacacctgctgaaggtacca	12	11	7	11	0	3	2	2	2	1	0	4	2	3	2	3	1	3	3	3	1	5	4	rs144372503	byFrequency	TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr7:100678653C>T	uc003uxp.1	+	2	4009	c.3956C>T	c.(3955-3957)cCt>cTt	p.P1319L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1319	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTTCATCTCCTACACCTGCT	0.478													32	451					0	0	1	0	0	T	100678653	C	T	100678653	3	4	214	1	0	0	0	0	1	0	0	0	9974	681	24	3	3966	3	MUC17	7	100678653	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	99091991	100678653	58460010	24	9196											
ZNF618	114991	broad.mit.edu	37	chr9	116811917	116811917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggccaaggccaacgacgcaGgcactgtcagcaagctctgc	10	4	12	15	3	2	0	1	0	1	0	2	1	2	0	2	3	4	4	2	3	3	0			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr9:116811917G>A	uc004bid.3	+	14	2434	c.2335G>A	c.(2335-2337)Ggc>Agc	p.G779S	ZNF618_uc004bic.3_Missense_Mutation_p.G686S|ZNF618_uc011lxi.2_Missense_Mutation_p.G746S|ZNF618_uc011lxj.2_Missense_Mutation_p.G747S|ZNF618_uc010mvb.3_Missense_Mutation_p.G369S	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	779					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CAACGACGCAGGCACTGTCAG	0.627													12	117					0	0	1	0	0	A	116811917	G	A	116811917	3	1	214	1	0	0	0	0	1	0	0	0	18039	1000	35	3	2110	3	ZNF618	9	116811917	Missense_Mutation	SNP	G	TCGA-HT-7875-01A-11D-2395-08		116811917	24401514	25	9197											
NOTCH1	4851	broad.mit.edu	37	chr9	139412381	139412381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttgcccgcatgctcgcaggGgttggcacctggcgagggca	5	7	16	13	3	0	0	0	0	0	0	1	1	0	0	2	5	2	6	2	5	0	2			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr9:139412381G>A	uc004chz.3	-	7	1264	c.1264C>T	c.(1264-1266)Ccc>Tcc	p.P422S		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	422	EGF-like 11; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.P422S(3)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGCTCGCAGGGGTTGGCACCT	0.667			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			5	67					0	0	1	0	0	A	139412381	G	A	139412381	3	1	214	1	0	0	0	0	1	0	0	0	10547	1232	43	3	6511	3	NOTCH1	9	139412381	Missense_Mutation	SNP	G	TCGA-HT-7875-01A-11D-2395-08	22600464	139412381	1801050	26	9198											
PRPF18	8559	broad.mit.edu	37	chr10	13655742	13655744	+	In_Frame_Del	DEL	TTC	TTC	-																															ttacccatcctttcaacagtTtcttcttggcgtttgggcta																										TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr10:13655742_13655744delTTC	uc001imp.3	+	6	729_731	c.581_583delTTC	c.(580-585)tttctt>ttt	p.L196del	PRPF18_uc001imq.3_Intron	NM_003675	NP_003666	Q99633	PRP18_HUMAN	Homo sapiens PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae) (PRPF18), mRNA.	196					RNA splicing|mRNA processing	nuclear speck|spliceosomal complex				central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						TTTCAACAGTTTCTTCTTGGCGT	0.429													16	72	---	---	---	---						-	13655744	TTC	-	13655742	7	5	214	1	0	1	0	1	0	0	0	0	12563	1855	64	0	607	0	PRPF18	10	13655742	In_Frame_Del	DEL	TTC	TCGA-HT-7875-01A-11D-2395-08		13655742	121879005	27	9199											
OR5D18	219438	broad.mit.edu	37	chr11	55587463	55587463	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctttttattagctgtgatgGcctatgaccgcttcgtggcc	5	15	10	11	2	0	2	0	2	0	0	1	2	0	2	4	2	1	2	4	2	3	6			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr11:55587463G>A	uc010rin.2	+	0	358	c.358G>A	c.(358-360)Gcc>Acc	p.A120T		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				AGCTGTGATGGCCTATGACCG	0.453													6	212					0	0	1	0	0	A	55587463	G	A	55587463	3	1	214	1	0	0	0	0	1	0	0	0	11157	1203	42	3	360	3	OR5D18	11	55587463	Missense_Mutation	SNP	G	TCGA-HT-7875-01A-11D-2395-08		55587463	79419053	28	9200											
OR1S1	219959	broad.mit.edu	37	chr11	57982884	57982884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttatcagttatcatcttccCctttacactcagcttctttt	7	20	2	12	0	5	0	3	0	2	0	6	0	6	0	2	0	2	2	2	0	3	9			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr11:57982884C>T	uc010rkc.2	+	0	668	c.668C>T	c.(667-669)cCc>cTc	p.P223L		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				ATCATCTTCCCCTTTACACTC	0.443													8	97					0	0	1	0	0	T	57982884	C	T	57982884	3	4	214	1	0	0	0	0	1	0	0	0	10972	623	22	3	670	3	OR1S1	11	57982884	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	2395421	57982884	77023632	29	9201											
FUT4	2526	broad.mit.edu	37	chr11	94278274	94278274	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctaccgggcggactcggaCgtctttgtgccttatggcta	5	12	12	12	4	1	0	0	0	1	0	3	2	2	2	3	4	2	1	3	4	3	4			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr11:94278274C>T	uc001pez.3	+	0	1258	c.975C>T	c.(973-975)gaC>gaT	p.D325D	PIWIL4_uc010rue.1_Intron|PIWIL4_uc009ywk.2_5'Flank	NM_002033	NP_002024	P22083	FUT4_HUMAN	Homo sapiens fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) (FUT4), mRNA.	325					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CGGACTCGGACGTCTTTGTGC	0.647													24	61					0	0	1	0	0	T	94278274	C	T	94278274	2	4	214	1	0	0	0	0	0	0	0	1	6106	535	19	1		1	FUT4	11	94278274	Silent	SNP	C	TCGA-HT-7875-01A-11D-2395-08	36295390	94278274	40728242	30	9202											
NCAM1	4684	broad.mit.edu	37	chr11	113126648	113126649	+	Frame_Shift_Del	DEL	CT	CT	-																															cagatgggagaggatggaaaCtctattaaagtgaacctgat																										TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr11:113126648_113126649delCT	uc021qqp.1	+	15	2316_2317	c.1944_1945delCT	c.(1942-1947)aactctfs	p.N648fs	NCAM1_uc001pnp.3_Frame_Shift_Del_p.N647fs|NCAM1_uc021qqo.1_Frame_Shift_Del_p.N612fs|NCAM1_uc001pnq.3_Frame_Shift_Del_p.N622fs|NCAM1_uc001pnr.3_Frame_Shift_Del_p.N612fs|NCAM1_uc001pns.3_Frame_Shift_Del_p.N6fs	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	626	Fibronectin type-III 2.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGGATGGAAACTCTATTAAAGT	0.5													12	17	---	---	---	---						-	113126649	CT	-	113126648	7	5	214	1	0	1	0	1	0	0	0	0	10202	564	20	0	2054	0	NCAM1	11	113126648	Frame_Shift_Del	DEL	CT	TCGA-HT-7875-01A-11D-2395-08	18848374	113126648	21879868	31	9203											
PHLDB1	23187	broad.mit.edu	37	chr11	118499068	118499068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggacttctccctgacgctggGggcacggggccgtaggacac	6	6	16	13	3	1	1	0	1	1	0	2	3	1	3	2	6	0	3	2	6	1	2			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr11:118499068G>A	uc001ptr.2	+	6	1882	c.1529G>A	c.(1528-1530)gGg>gAg	p.G510E	PHLDB1_uc001pts.3_Missense_Mutation_p.G510E|PHLDB1_uc001ptt.3_Missense_Mutation_p.G510E|PHLDB1_uc001ptu.2_Intron|PHLDB1_uc001ptv.2_Missense_Mutation_p.G310E|PHLDB1_uc001ptw.2_5'Flank	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	510										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CTGACGCTGGGGGCACGGGGC	0.662													4	39					0	0	1	0	0	A	118499068	G	A	118499068	3	1	214	1	0	0	0	0	1	0	0	0	11851	1232	43	3	1547	3	PHLDB1	11	118499068	Missense_Mutation	SNP	G	TCGA-HT-7875-01A-11D-2395-08	5372420	118499068	16507448	32	9204											
TAS2R13	50838	broad.mit.edu	37	chr12	11061883	11061883	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagagtgaagatactcggCagggcactttccatgtcaga	13	8	11	9	1	1	4	1	1	0	3	3	4	2	4	1	2	1	2	1	2	3	2			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr12:11061883C>T	uc001qzg.1	-	0	279	c.15G>A	c.(13-15)ctG>ctA	p.L5L	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron	NM_023920	NP_076409	Q9NYV9	T2R13_HUMAN	Homo sapiens taste receptor, type 2, member 13 (TAS2R13), mRNA.	5					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						AGATACTCGGCAGGGCACTTT	0.383													7	41					0	0	1	0	0	T	11061883	C	T	11061883	2	4	214	1	0	0	0	0	0	0	0	1	15564	697	25	3		3	TAS2R13	12	11061883	Silent	SNP	C	TCGA-HT-7875-01A-11D-2395-08		11061883	122790012	33	9205											
PRICKLE1	144165	broad.mit.edu	37	chr12	42860093	42860093	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgatatacctctgtccTcccaggaccgtttcacactc	8	13	5	15	1	3	1	2	1	1	0	6	2	5	2	4	1	1	1	4	1	2	4			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr12:42860093T>A	uc010skv.2	-	5	965	c.678A>T	c.(676-678)ggA>ggT	p.G226G	PRICKLE1_uc001rnl.3_Silent_p.G226G|PRICKLE1_uc010skw.2_Silent_p.G226G|PRICKLE1_uc001rnm.3_Silent_p.G226G	NM_001144881	NP_694571	Q96MT3	PRIC1_HUMAN	Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 2, mRNA.	226	LIM zinc-binding 2.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		ACCTCTGTCCTCCCAGGACCG	0.488													10	82					0	0	1	0	0	A	42860093	T	A	42860093	2	1	214	1	0	0	0	0	0	0	0	1	12486	1538	54	5		5	PRICKLE1	12	42860093	Silent	SNP	T	TCGA-HT-7875-01A-11D-2395-08	31798210	42860093	90991802	34	9206											
ZMYM2	7750	broad.mit.edu	37	chr13	20577051	20577052	+	Frame_Shift_Del	DEL	TT	TT	-																															aaacaaccaggggtggactcTttatcaccagtggcctcact																										TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr13:20577051_20577052delTT	uc001umr.3	+	4	1207_1208	c.909_910delTT	c.(907-912)tctttafs	p.S303fs	ZMYM2_uc001umq.3_Frame_Shift_Del_p.S216fs|ZMYM2_uc001ums.3_Frame_Shift_Del_p.S303fs|ZMYM2_uc021rgy.1_Frame_Shift_Del_p.S303fs|ZMYM2_uc001umt.3_Frame_Shift_Del_p.S303fs|ZMYM2_uc009zzn.1_Frame_Shift_Del_p.S238fs	NM_003453	NP_932072	Q9UBW7	ZMYM2_HUMAN	Homo sapiens zinc finger, MYM-type 2 (ZMYM2), transcript variant 1, mRNA.	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		GGGTGGACTCTTTATCACCAGT	0.421													100	109	---	---	---	---						-	20577052	TT	-	20577051	7	5	214	1	0	1	0	1	0	0	0	0	17697	1596	56	0	915	0	ZMYM2	13	20577051	Frame_Shift_Del	DEL	TT	TCGA-HT-7875-01A-11D-2395-08		20577051	94592827	35	9207											
GPR68	8111	broad.mit.edu	37	chr14	91700786	91700786	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggatgccctggtaggaCgccagcagcaggcagatggg	9	4	17	11	2	0	1	0	0	0	1	0	3	0	3	2	5	3	5	2	5	1	1			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr14:91700786C>T	uc021ryk.1	-	0	609	c.609G>A	c.(607-609)gcG>gcA	p.A203A	GPR68_uc001xzg.3_Silent_p.A203A|GPR68_uc001xzh.3_Silent_p.A203A	NM_003485	NP_003476	Q15743	OGR1_HUMAN	Homo sapiens G protein-coupled receptor 68 (GPR68), transcript variant 2, mRNA.	203					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		CCTGGTAGGACGCCAGCAGCA	0.652													9	29					0	0	1	0	0	T	91700786	C	T	91700786	2	4	214	1	0	0	0	0	0	0	0	1	6707	523	19	1		1	GPR68	14	91700786	Silent	SNP	C	TCGA-HT-7875-01A-11D-2395-08		91700786	15648754	36	9208											
TCF12	6938	broad.mit.edu	37	chr15	57526268	57526269	+	Frame_Shift_Del	DEL	CA	CA	-																															agggaatgctgctggaagctCacagacaggtgatgcacttg																										TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr15:57526268_57526269delCA	uc002aec.3	+	11	1282_1283	c.998_999delCA	c.(997-999)tcafs	p.S333fs	TCF12_uc010ugm.1_Frame_Shift_Del_p.S385fs|TCF12_uc010ugn.1_Frame_Shift_Del_p.S329fs|TCF12_uc002aea.3_Frame_Shift_Del_p.S333fs|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Frame_Shift_Del_p.S333fs|TCF12_uc002aed.3_Frame_Shift_Del_p.S333fs|TCF12_uc010ugo.2_Frame_Shift_Del_p.S97fs|TCF12_uc002aee.3_Frame_Shift_Del_p.S163fs|TCF12_uc010bft.3_Frame_Shift_Del_p.S163fs	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	333					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GCTGGAAGCTCACAGACAGGTG	0.356			T	TEC	extraskeletal myxoid chondrosarcoma								15	59	---	---	---	---						-	57526269	CA	-	57526268	7	5	214	1	0	1	0	1	0	0	0	0	15684	838	29	0	1113	0	TCF12	15	57526268	Frame_Shift_Del	DEL	CA	TCGA-HT-7875-01A-11D-2395-08		57526268	45005124	37	9209											
TCF12	6938	broad.mit.edu	37	chr15	57565414	57565416	+	In_Frame_Del	DEL	TCA	TCA	-																															caaacaaaactccttattctTcatcaagccgtggcagtcat																										TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr15:57565414_57565416delTCA	uc002aec.3	+	17	2144_2146	c.1860_1862delTCA	c.(1858-1863)cttcat>ctt	p.H621del	TCF12_uc010ugm.1_In_Frame_Del_p.H673del|TCF12_uc010ugn.1_In_Frame_Del_p.H641del|TCF12_uc002aea.3_In_Frame_Del_p.H645del|TCF12_uc010bfs.3_In_Frame_Del_p.H42del|TCF12_uc002aeb.3_In_Frame_Del_p.H645del|TCF12_uc002aed.3_In_Frame_Del_p.H621del|TCF12_uc010ugo.2_In_Frame_Del_p.H385del|TCF12_uc002aee.3_In_Frame_Del_p.H451del|TCF12_uc010bft.3_In_Frame_Del_p.H475del|TCF12_uc010ugp.2_In_Frame_Del_p.H278del|TCF12_uc010ugq.2_In_Frame_Del_p.H255del|TCF12_uc010ugr.1_In_Frame_Del_p.H234del	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	621	Helix-loop-helix motif.				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TCCTTATTCTTCATCAAGCCGTG	0.448			T	TEC	extraskeletal myxoid chondrosarcoma								39	21	---	---	---	---						-	57565416	TCA	-	57565414	7	5	214	1	0	1	0	1	0	0	0	0	15684	1770	62	0	2075	0	TCF12	15	57565414	In_Frame_Del	DEL	TCA	TCGA-HT-7875-01A-11D-2395-08	39146	57565414	44965978	38	9210											
ITGAL	3683	broad.mit.edu	37	chr16	30485546	30485546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgagctacaacctggacgtgCggggcgcgcggagcttctcc	6	6	15	14	6	1	0	0	0	1	0	2	3	1	2	2	4	5	2	2	4	2	2			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr16:30485546C>T	uc002dyi.4	+	1	267	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	ITGAL_uc010veu.1_Non-coding_Transcript|ITGAL_uc002dyj.4_Missense_Mutation_p.R31W|ITGAL_uc010vev.2_Missense_Mutation_p.R31W	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	31					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CCTGGACGTGCGGGGCGCGCG	0.706													7	15					0	0	1	0	0	T	30485546	C	T	30485546	3	4	214	1	0	0	0	0	1	0	0	0	7886	759	27	1	97	1	ITGAL	16	30485546	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08		30485546	59869207	39	9211											
ZNF689	115509	broad.mit.edu	37	chr16	30616099	30616101	+	In_Frame_Del	DEL	GAG	GAG	-																															gccggtgactgaccaggcgaGaggaggaggagaagcgccgc																										TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr16:30616099_30616101delGAG	uc002dyx.3	-	2	1307_1309	c.987_989delCTC	c.(985-990)tcctct>tct	p.329_330SS>S	ZNF689_uc010bzy.3_5'UTR	NM_138447	NP_612456	Q96CS4	ZN689_HUMAN	Homo sapiens zinc finger protein 689 (ZNF689), mRNA.	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			GACCAGGCGAGAGGAGGAGGAGA	0.7													14	39	---	---	---	---						-	30616101	GAG	-	30616099	7	5	214	1	0	1	0	1	0	0	0	0	18091	942	33	0	517	0	ZNF689	16	30616099	In_Frame_Del	DEL	GAG	TCGA-HT-7875-01A-11D-2395-08	130553	30616099	59738654	40	9212											
MED1	5469	broad.mit.edu	37	chr17	37565972	37565972	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcagctggatcagtgtaTggattttcattattgttagt	10	17	10	4	0	3	1	3	0	0	1	3	3	3	3	0	2	1	3	0	2	3	6			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr17:37565972T>A	uc002hrv.4	-	16	2714	c.2502A>T	c.(2500-2502)ccA>ccT	p.P834P	MED1_uc010wee.2_Silent_p.P662P|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	Homo sapiens mediator complex subunit 1 (MED1), mRNA.	834	Interaction with ESR1.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GATCAGTGTATGGATTTTCAT	0.433										HNSCC(31;0.082)			20	84					0	0	1	0	0	A	37565972	T	A	37565972	2	1	214	1	0	0	0	0	0	0	0	1	9425	1451	51	5		5	MED1	17	37565972	Silent	SNP	T	TCGA-HT-7875-01A-11D-2395-08		37565972	43629238	41	9213											
SMURF2	64750	broad.mit.edu	37	chr17	62574689	62574689	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccttgttgcgttgtccTctgttctgtaaaattaataa	8	17	8	8	1	2	0	0	0	2	0	3	0	3	0	2	1	1	4	2	1	4	7			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr17:62574689T>C	uc002jep.1	-	8	1166	c.778A>G	c.(778-780)Agg>Ggg	p.R260G	SMURF2_uc002jeq.1_Missense_Mutation_p.R19G|SMURF2_uc002jer.1_Missense_Mutation_p.R19G	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	Homo sapiens SMAD specific E3 ubiquitin protein ligase 2 (SMURF2), mRNA.	260	WW 2.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	SMAD binding|identical protein binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TGCGTTGTCCTCTGTTCTGTA	0.373													15	26					0	0	1	0	0	C	62574689	T	C	62574689	3	2	214	1	0	0	0	0	1	0	0	0	14820	1550	54	4	1512	4	SMURF2	17	62574689	Missense_Mutation	SNP	T	TCGA-HT-7875-01A-11D-2395-08	25008717	62574689	18620521	42	9214											
CIC	23152	broad.mit.edu	37	chr19	42796331	42796331	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggacccacctctcagcctCagaaggtcctgttgccctcc	6	9	8	18	0	2	1	2	0	1	1	5	2	4	2	6	2	2	1	6	2	1	1			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr19:42796331C>T	uc002otf.1	+	11	3020	c.2980C>T	c.(2980-2982)Cag>Tag	p.Q994*		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	994	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.Q994*(2)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CTCTCAGCCTCAGAAGGTCCT	0.662			"Mis, F, S"		oligodendroglioma								24	38					0	0	1	0	0	T	42796331	C	T	42796331	4	4	214	1	0	0	0	0	0	1	0	0	3424	827	29	3	3026	3	CIC	19	42796331	Nonsense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08		42796331	16332652	43	9215											
CIC	23152	broad.mit.edu	37	chr19	42796905	42796906	+	Frame_Shift_Del	DEL	TG	TG	-																															cccccaagcctggtctacacTgtggccaccagcacaacccc																										TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr19:42796905_42796906delTG	uc002otf.1	+	13	3403_3404	c.3363_3364delTG	c.(3361-3366)actgtgfs	p.T1121fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1121	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGGTCTACACTGTGGCCACCAG	0.668			"Mis, F, S"		oligodendroglioma								19	79	---	---	---	---						-	42796906	TG	-	42796905	7	5	214	1	0	1	0	1	0	0	0	0	3424	1567	55	0	3417	0	CIC	19	42796905	Frame_Shift_Del	DEL	TG	TCGA-HT-7875-01A-11D-2395-08	574	42796905	16332078	44	9216											
CBLC	23624	broad.mit.edu	37	chr19	45281321	45281321	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgagtcccccttcgctgCgggacctgctgccccgcaca	4	7	11	19	4	0	1	0	1	0	0	2	2	1	2	6	1	3	3	6	1	0	1			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr19:45281321C>T	uc002ozs.3	+	0	196	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	CBLC_uc010ejt.3_Missense_Mutation_p.R45W	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA.	45	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CCCTTCGCTGCGGGACCTGCT	0.746			M		AML								5	45					0	0	1	0	0	T	45281321	C	T	45281321	3	4	214	1	0	0	0	0	1	0	0	0	2702	759	27	1	135	1	CBLC	19	45281321	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	2484416	45281321	13847662	45	9217											
SMARCB1	6598	broad.mit.edu	37	chr22	24176338	24176338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcttccaggcggatgaggCgtcttgccaacacggccccg	6	7	12	16	4	2	1	0	1	2	0	3	2	3	2	5	4	2	0	5	4	1	2			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr22:24176338C>T	uc002zyd.3	+	8	1363	c.1156C>T	c.(1156-1158)Cgt>Tgt	p.R386C	SMARCB1_uc002zya.3_Intron|SMARCB1_uc002zyb.3_Missense_Mutation_p.R377C|SMARCB1_uc002zyc.3_Missense_Mutation_p.R368C	NM_001007468	NP_001007469	Q12824	SNF5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1), transcript variant 2, mRNA.	377					DNA integration|cell cycle|chromatin remodeling|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleolus|nucleoplasm	p53 binding	p.?(2)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				GCGGATGAGGCGTCTTGCCAA	0.647			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid							3	8					0	0	1	0	0	T	24176338	C	T	24176338	3	4	214	1	0	0	0	0	1	0	0	0	14774	768	27	1	1163	1	SMARCB1	22	24176338	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08		24176338	27128228	46	9218											
GPR25	2848	broad.mit.edu	37	chr1	200842872	200842872	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgacggccgccgcacgtggGtcgggcccggaggaactcgc	5	3	18	15	8	0	0	0	0	0	0	2	3	0	2	3	5	1	1	3	5	1	0			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr1:200842872G>T	uc001gvn.1	+	0	707	c.707G>T	c.(706-708)gGt>gTt	p.G236V		NM_005298	NP_005289	O00155	GPR25_HUMAN	Homo sapiens G protein-coupled receptor 25 (GPR25), mRNA.	236						integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						CCGCACGTGGGTCGGGCCCGG	0.682													6	95					0.0293803	0.0303935	1	1	0	T	200842872	G	T	200842872	3	4	215	1	0	0	0	0	1	0	0	0	6683	1261	44	5	709	5	GPR25	1	200842872	Missense_Mutation	SNP	G	TCGA-HT-7877-01A-11D-2395-08		200842872	48407749	1	9219											
SNRNP200	23020	broad.mit.edu	37	chr2	96959095	96959116	+	Frame_Shift_Del	DEL	TAGAAAGGTGGCTACATCTTCA	TAGAAAGGTGGCTACATCTTCA	-																															cccttggcagggtcaacacgTagaaaggtggctacatcttc																										TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr2:96959095_96959116delTAGAAAGGTGGCTACATCTTCA	uc002svu.3	-	14	2106_2127	c.1974_1995delTGAAGATGTAGCCACCTTTCTA	c.(1972-1995)tatgaagatgtagccacctttctafs	p.Y658fs		NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	658	Helicase ATP-binding 1.					U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GGTCAACACGTAGAAAGGTGGCTACATCTTCATAGTTGGGTA	0.495													17	114	---	---	---	---						-	96959116	TAGAAAGGTGGCTACATCTTCA	-	96959095	7	5	215	1	0	1	0	1	0	0	0	0	14852	1625	57	0	4539	0	SNRNP200	2	96959095	Frame_Shift_Del	DEL	TAGAAAGGTGGCTACATCTTCA	TCGA-HT-7877-01A-11D-2395-08		96959095	146240278	2	9220											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								21	24					0	0	1	0	0	T	209113112	C	T	209113112	3	4	215	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7877-01A-11D-2395-08	112154017	209113112	34086261	3	9221											
NIPAL1	152519	broad.mit.edu	37	chr4	48037778	48037778	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagccagtttacaaacatccGctggtctttgttttgctggc	8	14	9	10	1	1	0	0	0	1	0	2	0	2	0	2	2	4	4	2	2	3	5			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr4:48037778G>T	uc003gxw.3	+	5	888	c.822G>T	c.(820-822)ccG>ccT	p.P274P		NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN	Homo sapiens NIPA-like domain containing 1 (NIPAL1), mRNA.	274						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						ACAAACATCCGCTGGTCTTTG	0.428													4	60					1	1	1	1	0	T	48037778	G	T	48037778	2	4	215	1	0	0	0	0	0	0	0	1	10424	1074	38	5		5	NIPAL1	4	48037778	Silent	SNP	G	TCGA-HT-7877-01A-11D-2395-08		48037778	143116498	4	9222											
UGT2B10	7365	broad.mit.edu	37	chr4	69879783	69879783	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgttgcaattacattggcCctttctgctgtcatgttact	6	17	8	10	0	2	0	1	0	1	0	2	0	2	0	1	1	4	5	1	1	3	5			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr4:69879783C>T	uc011cao.1	-	4	951	c.825G>A	c.(823-825)agG>agA	p.R275R	UGT2B10_uc011can.1_Silent_p.R191R			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	319					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TTACATTGGCCCTTTCTGCTG	0.438													25	91					0	0	1	0	0	T	69879783	C	T	69879783	2	4	215	1	0	0	0	0	0	0	0	1	16953	622	22	3		3	UGT2B10	4	69879783	Silent	SNP	C	TCGA-HT-7877-01A-11D-2395-08	21842005	69879783	121274493	5	9223											
AARS2	57505	broad.mit.edu	37	chr6	44270856	44270856	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcttgggaggctgggtcCaatgcatgggccacgggcac	6	6	18	11	2	0	0	0	0	0	0	1	1	1	1	2	6	1	4	2	6	1	1			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr6:44270856C>T	uc010jza.1	-	15	2205	c.2202G>A	c.(2200-2202)ttG>ttA	p.L734L	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2), nuclear gene encoding mitochondrial protein, mRNA.	734					alanyl-tRNA aminoacylation	mitochondrion	ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	AGGCTGGGTCCAATGCATGGG	0.627													6	83					0	0	1	0	0	T	44270856	C	T	44270856	2	4	215	1	0	0	0	0	0	0	0	1	20	593	21	3		3	AARS2	6	44270856	Silent	SNP	C	TCGA-HT-7877-01A-11D-2395-08		44270856	126844211	6	9224											
IDE	3416	broad.mit.edu	37	chr10	94333744	94333744	+	Frame_Shift_Del	DEL	G	G	-																															cggaaggtgctgggcagtgcGgggtgcagaagccacgctag																										TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr10:94333744delG	uc001kia.3	-	0	109	c.33delC	c.(31-33)cccfs	p.P11fs		NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	11					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGGGCAGTGCGGGGTGCAGAA	0.716													2	4	---	---	---	---						-	94333744	G	-	94333744	7	5	215	1	0	1	0	1	0	0	0	0	7493	1103	39	0	3126	0	IDE	10	94333744	Frame_Shift_Del	DEL	G	TCGA-HT-7877-01A-11D-2395-08		94333744	41201003	7	9225											
ARHGDIB	397	broad.mit.edu	37	chr12	15095522	15095522	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtggtcttgcttgtcatcGtcggtgaagaaggacttgtt	7	14	14	6	2	2	2	1	1	1	1	4	3	2	3	0	4	1	2	0	4	2	4			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr12:15095522G>A	uc001rcq.1	-	5	644	c.540C>T	c.(538-540)gaC>gaT	p.D180D		NM_001175	NP_001166	P52566	GDIR2_HUMAN	Homo sapiens Rho GDP dissociation inhibitor (GDI) beta (ARHGDIB), mRNA.	180					Rho protein signal transduction|actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						GCTTGTCATCGTCGGTGAAGA	0.567													63	142					0	0	1	0	0	A	15095522	G	A	15095522	2	1	215	1	0	0	0	0	0	0	0	1	891	1136	40	1		1	ARHGDIB	12	15095522	Silent	SNP	G	TCGA-HT-7877-01A-11D-2395-08		15095522	118756373	8	9226											
MYO1A	4640	broad.mit.edu	37	chr12	57423554	57423554	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacgattgaccttcttcacGgcctctgccatcagaacagg	9	9	8	15	2	4	2	2	1	2	1	4	3	4	2	4	2	2	0	4	2	1	3			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr12:57423554G>A	uc001smw.4	-	24	2934	c.2694C>T	c.(2692-2694)gcC>gcT	p.A898A	MYO1A_uc010sqz.2_Silent_p.A736A|MYO1A_uc009zpd.3_Silent_p.A898A	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	898					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CCTTCTTCACGGCCTCTGCCA	0.587													14	180					0	0	1	0	0	A	57423554	G	A	57423554	2	1	215	1	0	0	0	0	0	0	0	1	10068	1103	39	2		2	MYO1A	12	57423554	Silent	SNP	G	TCGA-HT-7877-01A-11D-2395-08	42328032	57423554	76428341	9	9227											
FARP1	10160	broad.mit.edu	37	chr13	99076871	99076871	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagattaccaaagaatcggCgatgtcatgctgaagaacat	16	8	10	7	2	1	4	1	1	0	3	2	6	1	4	1	1	3	1	1	1	5	1			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr13:99076871C>T	uc001vnh.3	+	16	2111	c.1872C>T	c.(1870-1872)ggC>ggT	p.G624G	FARP1_uc001vnj.3_Silent_p.G624G	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	624	DH.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AAAGAATCGGCGATGTCATGC	0.502													8	34					0	0	1	0	0	T	99076871	C	T	99076871	2	4	215	1	0	0	0	0	0	0	0	1	5676	755	27	1		1	FARP1	13	99076871	Silent	SNP	C	TCGA-HT-7877-01A-11D-2395-08		99076871	16093007	10	9228											
PLCB2	5330	broad.mit.edu	37	chr15	40590542	40590542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagagagcagcacctggCggtacatctcagccgaggag	11	4	14	12	2	1	1	1	0	1	1	2	4	1	2	3	3	5	3	3	3	1	1			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr15:40590542C>T	uc001zld.3	-	10	1338	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	PLCB2_uc010bbo.3_Missense_Mutation_p.R346H|PLCB2_uc010ucm.2_Missense_Mutation_p.R346H	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	346	PI-PLC X-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CAGCACCTGGCGGTACATCTC	0.627													40	59					0	0	1	0	0	T	40590542	C	T	40590542	3	4	215	1	0	0	0	0	1	0	0	0	12028	768	27	1	2608	1	PLCB2	15	40590542	Missense_Mutation	SNP	C	TCGA-HT-7877-01A-11D-2395-08		40590542	61940850	11	9229											
SPTBN5	51332	broad.mit.edu	37	chr15	42178327	42178327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggttctgggcttggagtgCtgtctgtagccggaagagca	6	10	17	8	2	2	1	0	0	2	1	2	3	2	3	1	4	3	5	1	4	2	3			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr15:42178327C>T	uc001zos.3	-	6	1354	c.1021G>A	c.(1021-1023)Gca>Aca	p.A341T		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	376					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCTTGGAGTGCTGTCTGTAGC	0.667													13	29					0	0	1	0	0	T	42178327	C	T	42178327	3	4	215	1	0	0	0	0	1	0	0	0	15121	797	28	3	10146	3	SPTBN5	15	42178327	Missense_Mutation	SNP	C	TCGA-HT-7877-01A-11D-2395-08	1587785	42178327	60353065	12	9230											
PER1	5187	broad.mit.edu	37	chr17	8047060	8047060	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggggtgggccagggggTggagggtggcacgggtgagg	4	6	27	4	1	0	1	0	1	0	0	0	2	0	2	1	11	0	1	1	11	0	0			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr17:8047060T>G	uc002gkd.3	-	18	2834	c.2596A>C	c.(2596-2598)Acc>Ccc	p.T866P	PER1_uc010cns.3_5'Flank|PER1_uc010vuq.2_Intron	NM_002616	NP_002607	O15534	PER1_HUMAN	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.	866	Pro-rich.				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	p.T866P(2)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGCCAGGGGGTGGAGGGTGGC	0.667			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					6	21					0	0	1	0	0	G	8047060	T	G	8047060	3	3	215	1	0	0	0	0	1	0	0	0	11729	1696	59	5	1296	5	PER1	17	8047060	Missense_Mutation	SNP	T	TCGA-HT-7877-01A-11D-2395-08		8047060	73148150	13	9231											
VPS25	84313	broad.mit.edu	37	chr17	40926665	40926665	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccttaaccttaaaccaggAaagcttcctgtggagtcgat	11	11	8	11	1	0	0	0	0	0	0	3	3	2	2	4	2	3	1	4	2	4	3			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr17:40926665A>G	uc002ibi.3	+	3	240	c.200_splice	c.e3-1	p.R67_splice		NM_032353	NP_115729	Q9BRG1	VPS25_HUMAN	Homo sapiens vacuolar protein sorting 25 homolog (S. cerevisiae) (VPS25), mRNA.	67					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endosome membrane|nucleoplasm				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		TTAAACCAGGAAAGCTTCCTG	0.453													7	22					0	0	1	0	0	G	40926665	A	G	40926665	5	3	215	1	0	0	0	0	0	0	1	0	17193	260	9	3	211	3	VPS25	17	40926665	Splice_Site	SNP	A	TCGA-HT-7877-01A-11D-2395-08	32879605	40926665	40268545	14	9232											
CIC	23152	broad.mit.edu	37	chr19	42791715	42791715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgggagaaggaccacatcCggcggcccatgaatgccttc	10	5	13	13	3	0	2	0	1	0	1	2	4	1	3	4	4	2	0	4	4	2	1			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr19:42791715C>T	uc002otf.1	+	4	641	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	201					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R201W(2)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGACCACATCCGGCGGCCCAT	0.622			"Mis, F, S"		oligodendroglioma								18	77					0	0	1	0	0	T	42791715	C	T	42791715	3	4	215	1	0	0	0	0	1	0	0	0	3424	643	23	2	619	2	CIC	19	42791715	Missense_Mutation	SNP	C	TCGA-HT-7877-01A-11D-2395-08		42791715	16337268	15	9233											
TPTE	7179	broad.mit.edu	37	chr21	10906911	10906911	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggggagctatacttaatcGgatccagctacaacatcact	13	9	9	10	1	1	0	1	0	0	0	3	2	2	2	1	3	5	2	1	3	5	4			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr21:10906911G>A	uc002yip.1	-	23	2018	c.1650C>T	c.(1648-1650)tcC>tcT	p.S550S	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.S532S|TPTE_uc002yir.1_Silent_p.S512S|TPTE_uc010gkv.1_Silent_p.S412S	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	550					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.S550S(1)|p.S532S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATACTTAATCGGATCCAGCTA	0.398													5	69					0	0	1	0	0	A	10906911	G	A	10906911	2	1	215	1	0	0	0	0	0	0	0	1	16427	1103	39	2		2	TPTE	21	10906911	Silent	SNP	G	TCGA-HT-7877-01A-11D-2395-08		10906911	37222984	16	9234											
NOL12	79159	broad.mit.edu	37	chr22	38087302	38087302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtaccagcaaggcccagCgccgccgtctcacaggcaaa	10	4	10	17	4	1	0	1	0	1	0	3	0	1	0	4	2	3	3	4	2	3	1			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr22:38087302C>T	uc003atp.3	+	5	657	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C	NOL12_uc011anm.1_3'UTR|NOL12_uc003ato.1_Non-coding_Transcript|TRIOBP_uc003atq.1_5'UTR	NM_024313	NP_077289	Q9UGY1	NOL12_HUMAN	Homo sapiens nucleolar protein 12 (NOL12), mRNA.	201						nucleolus	rRNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					CAAGGCCCAGCGCCGCCGTCT	0.632													23	41					0	0	1	0	0	T	38087302	C	T	38087302	3	4	215	1	0	0	0	0	1	0	0	0	10522	768	27	1	623	1	NOL12	22	38087302	Missense_Mutation	SNP	C	TCGA-HT-7877-01A-11D-2395-08		38087302	13217264	17	9235											
ARHGEF9	23229	broad.mit.edu	37	chrX	62893977	62893977	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcaatattctctaaacgtcGcttgcgttcgttgatctgct	7	16	8	10	4	3	1	1	1	2	0	6	1	3	1	0	0	3	4	0	0	4	6			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chrX:62893977G>A	uc004dvl.2	-	5	1704	c.865C>T	c.(865-867)Cga>Tga	p.R289*	ARHGEF9_uc011mos.1_Nonsense_Mutation_p.R268*|ARHGEF9_uc004dvk.1_Nonsense_Mutation_p.R151*|ARHGEF9_uc004dvm.1_Nonsense_Mutation_p.R268*|ARHGEF9_uc004dvj.2_Nonsense_Mutation_p.R187*|ARHGEF9_uc011mot.2_Nonsense_Mutation_p.R236*|ARHGEF9_uc004dvn.3_Nonsense_Mutation_p.R296*	NM_015185	NP_001166951	O43307	ARHG9_HUMAN	Homo sapiens Cdc42 guanine nucleotide exchange factor (GEF) 9 (ARHGEF9), transcript variant 1, mRNA.	289					apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	p.R287*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TCTAAACGTCGCTTGCGTTCG	0.458													4	63					0	0	1	0	0	A	62893977	G	A	62893977	4	1	215	1	0	0	0	0	0	1	0	0	912	1095	38	1	705	1	ARHGEF9	23	62893977	Nonsense_Mutation	SNP	G	TCGA-HT-7877-01A-11D-2395-08		62893977	92376583	18	9236											
RAB33A	9363	broad.mit.edu	37	chrX	129306042	129306042	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcggtccgggggagatggcGcagcccatcctgggccatgg	5	7	17	12	3	0	1	0	0	0	1	3	2	2	1	4	6	1	1	4	6	0	1			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chrX:129306042G>A	uc004evl.3	+	0	270	c.6G>A	c.(4-6)gcG>gcA	p.A2A	RAB33A_uc010nre.3_Non-coding_Transcript	NM_004794	NP_004785	Q14088	RB33A_HUMAN	Homo sapiens RAB33A, member RAS oncogene family (RAB33A), mRNA.	2					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						GGGAGATGGCGCAGCCCATCC	0.692													16	32					0	0	1	0	0	A	129306042	G	A	129306042	2	1	215	1	0	0	0	0	0	0	0	1	12922	1074	38	1		1	RAB33A	23	129306042	Silent	SNP	G	TCGA-HT-7877-01A-11D-2395-08	66412065	129306042	25964518	19	9237											
MAMLD1	10046	broad.mit.edu	37	chrX	149638921	149638921	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgccaccaccaccaccccCattcagcccccagagcctca	10	4	4	23	0	2	1	2	0	0	1	2	1	2	1	9	0	3	0	9	0	0	1			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chrX:149638921C>G	uc011mxu.2	+	2	1311	c.1001C>G	c.(1000-1002)cCa>cGa	p.P334R	MAMLD1_uc011mxt.1_Missense_Mutation_p.P321R|MAMLD1_uc004fee.2_Missense_Mutation_p.P359R|MAMLD1_uc011mxv.2_Missense_Mutation_p.P334R|MAMLD1_uc011mxw.2_Missense_Mutation_p.P286R	NM_001177465	NP_001170936	Q13495	MAMD1_HUMAN	Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA.	359					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					ccaccacccccaTTCAGCCCC	0.612													45	166					0	0	1	0	0	G	149638921	C	G	149638921	3	3	215	1	0	0	0	0	1	0	0	0	9208	594	21	5	1086	5	MAMLD1	23	149638921	Missense_Mutation	SNP	C	TCGA-HT-7877-01A-11D-2395-08	20332879	149638921	5631639	20	9238											
PASD1	139135	broad.mit.edu	37	chrX	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-																															aagccgtgtacgttgaacccGctgctgctgctgctgctgct																										TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chrX:150817142_150817144delGCT	uc004fev.4	+	8	1017_1019	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	236	Poly-Ala.					nucleus	signal transducer activity	p.A229A(2)|p.A235D(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433													8	172	---	---	---	---						-	150817144	GCT	-	150817142	7	5	215	1	0	1	0	1	0	0	0	0	11471	1087	38	0	715	0	PASD1	23	150817142	In_Frame_Del	DEL	GCT	TCGA-HT-7877-01A-11D-2395-08	1178221	150817142	4453418	21	9239											
G6PD	2539	broad.mit.edu	37	chrX	153762634	153762634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggtcctcacggaacagggagGagatgtggttggacagccgg	9	6	18	8	2	1	1	1	0	0	1	2	5	2	4	2	7	2	1	2	7	1	1	rs5030868	byFrequency	TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chrX:153762634G>A	uc004fly.1	-	5	676	c.563C>T	c.(562-564)tCc>tTc	p.S188F	G6PD_uc004flx.1_Missense_Mutation_p.S218F	NM_001042351	NP_001035810	P11413	G6PD_HUMAN	Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 2, mRNA.	188			S -> F (in Sassari/Cagliari; class II; frequent in the Mediterranean; dbSNP:rs5030868).		cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	NADP binding|glucose binding|glucose-6-phosphate dehydrogenase activity|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAACAGGGAGGAGATGTGGTT	0.632													43	106					0	0	1	0	0	A	153762634	G	A	153762634	3	1	215	1	0	0	0	0	1	0	0	0	6146	1174	41	3	1016	3	G6PD	23	153762634	Missense_Mutation	SNP	G	TCGA-HT-7877-01A-11D-2395-08	2945492	153762634	1507926	22	9240											
STAM2	10254	broad.mit.edu	37	chr2	153003685	153003685	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatctctcacctgagaaccTgctggaggaaaagtaattcc	14	9	8	10	0	2	1	1	1	1	1	4	4	3	3	3	2	2	2	3	2	5	2			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr2:153003685T>C	uc002tyc.4	-	4	788	c.438A>G	c.(436-438)gcA>gcG	p.A146A	STAM2_uc010foa.1_Silent_p.A146A|STAM2_uc002tyd.3_Silent_p.A146A	NM_005843	NP_005834	O75886	STAM2_HUMAN	Homo sapiens signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 (STAM2), mRNA.	146					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		CCTGAGAACCTGCTGGAGGAA	0.373													49	63					0	0	1	0	0	C	153003685	T	C	153003685	2	2	216	1	0	0	0	0	0	0	0	1	15248	1567	55	4		4	STAM2	2	153003685	Silent	SNP	T	TCGA-HT-7879-01A-11D-2395-08		153003685	90195688	1	9241											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								17	66					0	0	1	0	0	T	209113112	C	T	209113112	3	4	216	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7879-01A-11D-2395-08	56109427	209113112	34086261	2	9242											
TBC1D9	23158	broad.mit.edu	37	chr4	141677165	141677165	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcggtgatccacagcgcgTtggccagcaacacctcctcc	7	8	9	17	3	1	1	0	1	1	0	5	1	4	1	5	2	3	2	5	2	1	1			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr4:141677165T>C	uc010ioj.3	-	0	307	c.35A>G	c.(34-36)aAc>aGc	p.N12S		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	12						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CCACAGCGCGTTGGCCAGCAA	0.701													7	19					0	0	1	0	0	C	141677165	T	C	141677165	3	2	216	1	0	0	0	0	1	0	0	0	15624	1725	60	3	3849	3	TBC1D9	4	141677165	Missense_Mutation	SNP	T	TCGA-HT-7879-01A-11D-2395-08		141677165	49477111	3	9243											
CDC20B	166979	broad.mit.edu	37	chr5	54429276	54429276	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accagtaatatgaatcttcaCctctggttggagtatggaat	12	13	9	7	0	3	1	1	1	2	0	3	3	3	3	2	3	0	3	2	3	5	5			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr5:54429276C>T	uc003jpo.2	-	5	838	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	CDC20B_uc003jpn.2_Missense_Mutation_p.V221M|CDC20B_uc010ivu.2_Missense_Mutation_p.V221M|CDC20B_uc010ivv.2_Missense_Mutation_p.V221M	NM_001170402	NP_001163873	Q86Y33	CD20B_HUMAN	Homo sapiens cell division cycle 20 homolog B (S. cerevisiae) (CDC20B), transcript variant 3, mRNA.	221										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			TGAATCTTCACCTCTGGTTGG	0.368													36	53					0	0	1	0	0	T	54429276	C	T	54429276	3	4	216	1	0	0	0	0	1	0	0	0	3060	507	18	3	926	3	CDC20B	5	54429276	Missense_Mutation	SNP	C	TCGA-HT-7879-01A-11D-2395-08		54429276	126485984	4	9244											
PKHD1	5314	broad.mit.edu	37	chr6	51897948	51897948	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcacagtcacattcacaaTgcgtccatctttcccctgaa	11	11	5	14	1	4	1	3	1	1	0	6	2	6	1	3	0	1	0	3	0	2	2			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr6:51897948T>C	uc003pah.1	-	28	3520	c.3244A>G	c.(3244-3246)Att>Gtt	p.I1082V	PKHD1_uc003pai.3_Missense_Mutation_p.I1082V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1082	IPT/TIG 5.				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	p.R1081C(1)		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)					ACATTCACAATGCGTCCATCT	0.368													27	45					0	0	1	0	0	C	51897948	T	C	51897948	3	2	216	1	0	0	0	0	1	0	0	0	11971	1464	51	3	9175	3	PKHD1	6	51897948	Missense_Mutation	SNP	T	TCGA-HT-7879-01A-11D-2395-08		51897948	119217119	5	9245											
DOCK4	9732	broad.mit.edu	37	chr7	111405275	111405275	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatacaaagaggcttccaTcatctagaaagcacaggaaa	17	7	8	9	0	3	2	2	0	1	2	4	3	4	3	1	2	2	2	1	2	5	3			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr7:111405275T>C	uc003vfy.3	-	39	4296	c.4027A>G	c.(4027-4029)Atg>Gtg	p.M1343V	DOCK4_uc011kml.2_Missense_Mutation_p.M179V|DOCK4_uc011kmm.2_Missense_Mutation_p.M205V|DOCK4_uc003vfw.3_Missense_Mutation_p.M748V|DOCK4_uc003vfx.3_Missense_Mutation_p.M1298V	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	1298	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GAGGCTTCCATCATCTAGAAA	0.313													2	7					0	0	1	0	0	C	111405275	T	C	111405275	3	2	216	1	0	0	0	0	1	0	0	0	4689	1435	50	3	2068	3	DOCK4	7	111405275	Missense_Mutation	SNP	T	TCGA-HT-7879-01A-11D-2395-08		111405275	47733388	6	9246											
GAD2	2572	broad.mit.edu	37	chr10	26589805	26589805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacaaggtcaatttcttccGcatggtcatctcaaacccag	12	10	7	12	1	4	1	3	0	2	1	6	1	5	1	2	2	1	1	2	2	3	2			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr10:26589805G>A	uc001isp.2	+	15	2176	c.1673G>A	c.(1672-1674)cGc>cAc	p.R558H	GAD2_uc001isq.2_Missense_Mutation_p.R558H	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	558					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	AATTTCTTCCGCATGGTCATC	0.463													89	102					0	0	1	0	0	A	26589805	G	A	26589805	3	1	216	1	0	0	0	0	1	0	0	0	6180	1087	38	1	1735	1	GAD2	10	26589805	Missense_Mutation	SNP	G	TCGA-HT-7879-01A-11D-2395-08		26589805	108944942	7	9247											
CACNA1H	8912	broad.mit.edu	37	chr16	1265549	1265549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agctgctgaagatggctacgGgcatgcgcgccctgctggac	7	7	15	12	3	0	2	0	1	0	1	0	3	0	3	1	3	5	5	1	3	2	1			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr16:1265549G>A	uc002cks.3	+	29	5448	c.5200G>A	c.(5200-5202)Ggc>Agc	p.G1734S	CACNA1H_uc002ckt.3_Missense_Mutation_p.G1728S|CACNA1H_uc002cku.3_Missense_Mutation_p.G440S|CACNA1H_uc010brj.3_Missense_Mutation_p.G445S|CACNA1H_uc002ckv.3_Missense_Mutation_p.G434S	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1734					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.G1734C(2)|p.G1728C(1)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GATGGCTACGGGCATGCGCGC	0.721													12	15					0	0	1	0	0	A	1265549	G	A	1265549	3	1	216	1	0	0	0	0	1	0	0	0	2545	1232	43	3	5314	3	CACNA1H	16	1265549	Missense_Mutation	SNP	G	TCGA-HT-7879-01A-11D-2395-08		1265549	89089204	8	9248											
TP53	7157	broad.mit.edu	37	chr17	7577150	7577151	+	Frame_Shift_Del	DEL	TT	TT	-																															agctgttccgtcccagtagaTtaccactactcaggatagga																								rs72661119		TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr17:7577150_7577151delTT	uc002gim.2	-	7	981_982	c.787_788delAA	c.(787-789)aatfs	p.N263fs	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Frame_Shift_Del_p.N263fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.N131fs|TP53_uc010cnf.1_Frame_Shift_Del_p.N131fs|TP53_uc002gii.1_Frame_Shift_Del_p.N131fs|TP53_uc010cni.1_Frame_Shift_Del_p.N263fs|TP53_uc010cnh.1_Frame_Shift_Del_p.N263fs|TP53_uc002gij.2_Frame_Shift_Del_p.N263fs|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.	263	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		GN -> PD (in a sporadic cancer; somatic mutation).|N -> D (in sporadic cancers; somatic mutation).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> S (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G262V(15)|p.0?(8)|p.N263fs*82(6)|p.G262fs*83(5)|p.G262_F270delGNLLGRNSF(4)|p.G262D(4)|p.N263D(4)|p.N263I(4)|p.N263H(4)|p.G262_S269delGNLLGRNS(4)|p.?(3)|p.G262fs*2(2)|p.G262del(2)|p.G262S(2)|p.S261_L264>R(2)|p.N263fs*5(2)|p.N263fs*84(2)|p.G262H(1)|p.G262G(1)|p.E258fs*71(1)|p.S261_G262insX(1)|p.N263K(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)		TCCCAGTAGATTACCACTACTC	0.52		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)			17	23	---	---	---	---						-	7577151	TT	-	7577150	7	5	216	1	0	1	0	1	0	0	0	0	16378	1493	52	0	498	0	TP53	17	7577150	Frame_Shift_Del	DEL	TT	TCGA-HT-7879-01A-11D-2395-08		7577150	73618060	9	9249											
TP53	7157	broad.mit.edu	37	chr17	7578271	7578271	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttccactcggataagaTgctgaggaggggccagacct	9	9	12	11	1	0	3	0	1	0	2	3	5	2	5	4	4	1	1	4	4	1	3			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr17:7578271T>A	uc002gim.2	-	5	772	c.578A>T	c.(577-579)cAt>cTt	p.H193L	TP53_uc002gig.1_Missense_Mutation_p.H193L|TP53_uc002gih.3_Missense_Mutation_p.H193L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H61L|TP53_uc010cnf.1_Missense_Mutation_p.H61L|TP53_uc002gii.1_Missense_Mutation_p.H61L|TP53_uc010cni.1_Missense_Mutation_p.H193L|TP53_uc010cnh.1_Missense_Mutation_p.H193L|TP53_uc002gij.2_Missense_Mutation_p.H193L|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H100L|TP53_uc002gio.2_Missense_Mutation_p.H61L|TP53_uc010vug.2_Missense_Mutation_p.H154L	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H193R(152)|p.H193L(77)|p.Q192*(71)|p.H193P(32)|p.H193Y(27)|p.H193D(9)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.H193fs*16(6)|p.?(6)|p.Q192R(5)|p.P191_E198>Q(4)|p.H193N(4)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.Q192H(3)|p.H193_I195delHLI(2)|p.P191fs*53(2)|p.H193H(2)|p.Q192Q(2)|p.Q192K(2)|p.H61P(2)|p.H100P(2)|p.H193_I195>AP(2)|p.A189fs*53(1)|p.K164_P219del(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192>XXXXXXXXX(1)|p.P98_E105>Q(1)|p.Q192del(1)|p.Q192fs*56(1)|p.Q192fs*16(1)|p.Q192fs*30(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)		TCGGATAAGATGCTGAGGAGG	0.562		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)			22	44					0	0	1	0	0	A	7578271	T	A	7578271	3	1	216	1	0	0	0	0	1	0	0	0	16378	1464	51	5	716	5	TP53	17	7578271	Missense_Mutation	SNP	T	TCGA-HT-7879-01A-11D-2395-08	1121	7578271	73616939	10	9250											
MLLT1	4298	broad.mit.edu	37	chr19	6270683	6270683	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcggggccgcggacaaacaCcatccagtcgtgagtgaacc	10	5	12	14	4	0	2	0	2	0	0	3	3	1	3	4	3	2	0	4	3	2	0			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr19:6270683C>A	uc002mek.3	-	1	264	c.100G>T	c.(100-102)Gtg>Ttg	p.V34L		NM_005934	NP_005925	Q03111	ENL_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (MLLT1), mRNA.	34	YEATS.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CGGACAAACACCATCCAGTCG	0.622			T	MLL	AL						OREG0025198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	46					0.00198382	0.00198382	1	1	0	A	6270683	C	A	6270683	3	1	216	1	0	0	0	0	1	0	0	0	9625	507	18	5	1623	5	MLLT1	19	6270683	Missense_Mutation	SNP	C	TCGA-HT-7879-01A-11D-2395-08		6270683	52858300	11	9251											
MYL9	10398	broad.mit.edu	37	chr20	35177631	35177631	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgcatcctcaaacatggCgccaaggataaagacgacta	15	5	8	13	3	1	1	1	0	0	1	2	3	2	2	3	2	1	1	3	2	5	2			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr20:35177631C>T	uc002xfl.1	+	3	592	c.498C>T	c.(496-498)ggC>ggT	p.G166G	BC039668_uc002xfk.3_Intron|MYL9_uc002xfm.1_Silent_p.G112G	NM_006097	NP_006088	P24844	MYL9_HUMAN	Homo sapiens myosin, light chain 9, regulatory (MYL9), transcript variant 1, mRNA.	166	EF-hand 3.				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle	p.G166C(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TCAAACATGGCGCCAAGGATA	0.602													4	30					0	0	1	0	0	T	35177631	C	T	35177631	2	4	216	1	0	0	0	0	0	0	0	1	10054	755	27	1		1	MYL9	20	35177631	Silent	SNP	C	TCGA-HT-7879-01A-11D-2395-08		35177631	27847889	12	9252											
EWSR1	2130	broad.mit.edu	37	chr22	29694857	29694857	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggaaacgtccagcacCgagctggagactggcagtgt	11	5	16	9	2	0	1	0	0	0	1	1	6	1	3	2	4	3	3	2	4	1	0			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr22:29694857C>T	uc003aet.3	+	13	1880	c.1552C>T	c.(1552-1554)Cga>Tga	p.R518*	EWSR1_uc003aev.3_Nonsense_Mutation_p.R523*|EWSR1_uc003aex.3_Nonsense_Mutation_p.R517*|EWSR1_uc003aew.3_Nonsense_Mutation_p.R462*|EWSR1_uc003aey.3_Nonsense_Mutation_p.R313*|EWSR1_uc003aez.3_Nonsense_Mutation_p.R179*	NM_005243	NP_005234	Q01844	EWS_HUMAN	Homo sapiens Ewing sarcoma breakpoint region 1 (EWSR1), transcript variant 2, mRNA.	518					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	RNA binding|calmodulin binding|nucleotide binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CGTCCAGCACCGAGCTGGAGA	0.602			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"								51	88					0	0	1	0	0	T	29694857	C	T	29694857	4	4	216	1	0	0	0	0	0	1	0	0	5296	644	23	2	1723	2	EWSR1	22	29694857	Nonsense_Mutation	SNP	C	TCGA-HT-7879-01A-11D-2395-08		29694857	21609709	13	9253											
OGT	8473	broad.mit.edu	37	chrX	70767813	70767813	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcagtagcttggagtaaTcttggctgtgttttcaatgc	7	17	11	6	0	2	0	1	0	1	0	2	1	2	1	0	2	3	6	0	2	3	7			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chrX:70767813T>G	uc004eaa.2	+	4	826	c.588T>G	c.(586-588)aaT>aaG	p.N196K	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Missense_Mutation_p.N186K|OGT_uc004eac.3_Missense_Mutation_p.N57K|OGT_uc004ead.3_5'UTR	NM_181672	NP_858058	O15294	OGT1_HUMAN	Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.	196					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	MLL5-L complex|cytosol	enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding	p.N196K(1)|p.N186K(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CTTGGAGTAATCTTGGCTGTG	0.378													73	9					0	0	1	0	0	G	70767813	T	G	70767813	3	3	216	1	0	0	0	0	1	0	0	0	10847	1432	50	5	606	5	OGT	23	70767813	Missense_Mutation	SNP	T	TCGA-HT-7879-01A-11D-2395-08		70767813	84502747	14	9254											
ATRX	546	broad.mit.edu	37	chrX	76938001	76938001	+	Frame_Shift_Del	DEL	G	G	-																															tatcgacaccatcagtggaaGcacttgcttgctgcttctta																										TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chrX:76938001delG	uc004ecp.4	-	8	2979	c.2747delC	c.(2746-2748)gctfs	p.A916fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.A878fs|ATRX_uc004eco.4_Frame_Shift_Del_p.A701fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.A848fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.A887fs|ATRX_uc010nly.1_Frame_Shift_Del_p.A861fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	916					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATCAGTGGAAGCACTTGCTTG	0.418			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						122	35	---	---	---	---						-	76938001	G	-	76938001	7	5	216	1	0	1	0	1	0	0	0	0	1208	971	34	0	4839	0	ATRX	23	76938001	Frame_Shift_Del	DEL	G	TCGA-HT-7879-01A-11D-2395-08	6170188	76938001	78332559	15	9255											
PTPN14	5784	broad.mit.edu	37	chr1	214557534	214557534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcttaagcatgtgggccGtgctgtagttatggctgccc	6	13	13	9	1	1	0	0	0	1	0	1	0	1	0	2	2	3	6	2	2	3	4			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr1:214557534G>A	uc001hkk.2	-	12	2317	c.1664C>T	c.(1663-1665)aCg>aTg	p.T555M	PTPN14_uc021piy.1_Missense_Mutation_p.T319M|PTPN14_uc010pty.2_Missense_Mutation_p.T456M	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	555					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CATGTGGGCCGTGCTGTAGTT	0.637													10	118					0	0	1	0	0	A	214557534	G	A	214557534	3	1	217	1	0	0	0	0	1	0	0	0	12783	1145	40	1	1927	1	PTPN14	1	214557534	Missense_Mutation	SNP	G	TCGA-HT-7880-01A-11D-2395-08		214557534	34693087	1	9256											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								13	50					0	0	1	0	0	T	209113112	C	T	209113112	3	4	217	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7880-01A-11D-2395-08		209113112	34086261	2	9257											
TMEM198	130612	broad.mit.edu	37	chr2	220412578	220412578	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggccccgcccactcaccAccctggccaccgccgtgact	5	5	9	22	3	1	1	1	1	0	0	1	1	1	1	8	2	0	1	8	2	0	0			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr2:220412578A>C	uc002vme.3	+	3	1102	c.517A>C	c.(517-519)Acc>Ccc	p.T173P	TMEM198_uc002vmf.3_Missense_Mutation_p.T173P	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN	Homo sapiens transmembrane protein 198 (TMEM198), mRNA.	173	Leu-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CCCACTCACCACCCTGGCCAC	0.697													6	15					0	0	1	0	0	C	220412578	A	C	220412578	3	2	217	1	0	0	0	0	1	0	0	0	16116	159	6	5	523	5	TMEM198	2	220412578	Missense_Mutation	SNP	A	TCGA-HT-7880-01A-11D-2395-08	11299466	220412578	22786795	3	9258											
PKN3	29941	broad.mit.edu	37	chr9	131475882	131475882	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaatgcctgtcaccaactGtccctcagcctggtaccgca	9	8	8	16	1	2	0	2	0	0	0	3	1	3	0	5	1	4	2	5	1	3	1			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr9:131475882G>C	uc004bvw.3	+	8	1590	c.1197G>C	c.(1195-1197)ctG>ctC	p.L399L	PKN3_uc010myh.3_Silent_p.L399L|PKN3_uc022bom.1_Non-coding_Transcript	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	Homo sapiens protein kinase N3 (PKN3), mRNA.	399					signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GTCACCAACTGTCCCTCAGCC	0.632													6	85					0	0	1	0	0	C	131475882	G	C	131475882	2	2	217	1	0	0	0	0	0	0	0	1	11981	1364	48	5		5	PKN3	9	131475882	Silent	SNP	G	TCGA-HT-7880-01A-11D-2395-08		131475882	9737549	4	9259											
SPOCK2	9806	broad.mit.edu	37	chr10	73827431	73827431	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttggagttctcatgaaggaGctggaaccagtcccgcagcc	9	8	12	12	1	1	1	1	1	1	0	3	4	2	4	3	3	3	3	3	3	2	2			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr10:73827431G>T	uc001jso.2	-	6	1094	c.649C>A	c.(649-651)Ctc>Atc	p.L217I	ANAPC16_uc021psn.1_Intron|SPOCK2_uc001jsp.3_Missense_Mutation_p.L217I	NM_001244950	NP_001231879	Q92563	TICN2_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2 (SPOCK2), transcript variant 3, mRNA.	217					extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TCATGAAGGAGCTGGAACCAG	0.607													3	38					6.4e-05	7.15294e-05	1	1	0	T	73827431	G	T	73827431	3	4	217	1	0	0	0	0	1	0	0	0	15079	971	34	5	645	5	SPOCK2	10	73827431	Missense_Mutation	SNP	G	TCGA-HT-7880-01A-11D-2395-08		73827431	61707316	5	9260											
FOXJ2	55810	broad.mit.edu	37	chr12	8200558	8200560	+	In_Frame_Del	DEL	CAG	CAG	-																															agcagccaccgccacctcaaCagcagcagcagcagcagcag																										TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr12:8200558_8200560delCAG	uc001qtu.3	+	6	1983_1985	c.898_900delCAG	c.(898-900)cagdel	p.Q306del	FOXJ2_uc001qtt.1_In_Frame_Del_p.Q306del	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	Homo sapiens forkhead box J2 (FOXJ2), mRNA.	306	Poly-Gln.				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		gccacctcaacagcagcagcagc	0.64													7	76	---	---	---	---						-	8200560	CAG	-	8200558	7	5	217	1	0	1	0	1	0	0	0	0	6012	479	17	0	920	0	FOXJ2	12	8200558	In_Frame_Del	DEL	CAG	TCGA-HT-7880-01A-11D-2395-08		8200558	125651337	6	9261											
TP53	7157	broad.mit.edu	37	chr17	7577545	7577545	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggatgggcctccggttcaTgccgcccatgcaggaactgt	7	8	14	12	2	1	0	1	0	0	0	2	3	2	2	4	4	3	2	4	4	1	1			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr17:7577545T>C	uc002gim.2	-	6	930	c.736A>G	c.(736-738)Atg>Gtg	p.M246V	TP53_uc002gig.1_Missense_Mutation_p.M246V|TP53_uc002gih.3_Missense_Mutation_p.M246V|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.M114V|TP53_uc010cnf.1_Missense_Mutation_p.M114V|TP53_uc002gii.1_Missense_Mutation_p.M114V|TP53_uc010cni.1_Missense_Mutation_p.M246V|TP53_uc010cnh.1_Missense_Mutation_p.M246V|TP53_uc002gij.2_Missense_Mutation_p.M246V|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.M153V|TP53_uc002gio.2_Missense_Mutation_p.M114V|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.	246	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(296)|p.G245D(99)|p.M246V(65)|p.G245V(58)|p.G245C(51)|p.M246I(24)|p.G245R(10)|p.M246R(10)|p.G245A(8)|p.M246K(8)|p.0?(8)|p.M246T(8)|p.M246L(6)|p.?(5)|p.M246fs*1(4)|p.M246_P250delMNRRP(4)|p.G244_M246>V(4)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.C242_M246>L(2)|p.M153V(2)|p.C238_M246delCNSSCMGGM(2)|p.G245fs*14(2)|p.G245fs*17(2)|p.G245fs*16(2)|p.G244_M246del(1)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245E(1)|p.G245fs*22(1)|p.G245del(1)|p.C242fs*98(1)|p.G245F(1)|p.G151_M153>V(1)|p.S241_G245delSCMGG(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)		CTCCGGTTCATGCCGCCCATG	0.577		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)			10	76					0	0	1	0	0	C	7577545	T	C	7577545	3	2	217	1	0	0	0	0	1	0	0	0	16378	1464	51	3	554	3	TP53	17	7577545	Missense_Mutation	SNP	T	TCGA-HT-7880-01A-11D-2395-08		7577545	73617665	7	9262											
NF1	4763	broad.mit.edu	37	chr17	29562657	29562660	+	Frame_Shift_Del	DEL	TGTT	TGTT	-																															agctcgagttctggttactcTgtttgattctcggcatttac																										TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr17:29562657_29562660delTGTT	uc002hgg.3	+	27	4120_4123	c.3737_3740delTGTT	c.(3736-3741)ctgtttfs	p.L1246fs	NF1_uc002hgh.3_Frame_Shift_Del_p.L1246fs|NF1_uc010csn.2_Frame_Shift_Del_p.L1106fs|NF1_uc002hgi.1_Frame_Shift_Del_p.L279fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1246	Ras-GAP.				MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)|p.F1247fs*16(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGGTTACTCTGTTTGATTCTCGG	0.412			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			20	226	---	---	---	---						-	29562660	TGTT	-	29562657	7	5	217	1	0	1	0	1	0	0	0	0	10356	1580	55	0	3908	0	NF1	17	29562657	Frame_Shift_Del	DEL	TGTT	TCGA-HT-7880-01A-11D-2395-08	21985112	29562657	51632553	8	9263											
ATRX	546	broad.mit.edu	37	chrX	76937900	76937900	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttacatgttttggtttTgagatgcttgctcttttctt	4	25	7	5	0	2	1	0	1	2	1	2	2	2	1	0	1	3	4	0	1	1	11			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chrX:76937900T>A	uc004ecp.4	-	8	3080	c.2848A>T	c.(2848-2850)Aaa>Taa	p.K950*	ATRX_uc004ecq.4_Nonsense_Mutation_p.K912*|ATRX_uc004eco.4_Nonsense_Mutation_p.K735*|ATRX_uc004ecr.2_Nonsense_Mutation_p.K882*|ATRX_uc010nlx.1_Nonsense_Mutation_p.K921*|ATRX_uc010nly.1_Nonsense_Mutation_p.K895*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	950					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GTTTTGGTTTTGAGATGCTTG	0.358			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						17	76					0	0	1	0	0	A	76937900	T	A	76937900	4	1	217	1	0	0	0	0	0	1	0	0	1208	1821	63	5	4738	5	ATRX	23	76937900	Nonsense_Mutation	SNP	T	TCGA-HT-7880-01A-11D-2395-08		76937900	78332660	9	9264											
ATRX	546	broad.mit.edu	37	chrX	76938788	76938788	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttacacgtggggatcttcGaagatcagattcctctaaaa	12	12	8	9	2	3	2	1	0	2	2	5	4	4	3	1	2	1	0	1	2	4	5			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chrX:76938788G>T	uc004ecp.4	-	8	2192	c.1960C>A	c.(1960-1962)Cga>Aga	p.R654R	ATRX_uc004ecq.4_Silent_p.R616R|ATRX_uc004eco.4_Silent_p.R439R|ATRX_uc004ecr.2_Silent_p.R586R|ATRX_uc010nlx.1_Silent_p.R625R|ATRX_uc010nly.1_Silent_p.R599R	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	654					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GGGGATCTTCGAAGATCAGAT	0.393			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						19	114					7.07596e-05	7.46907e-05	1	1	0	T	76938788	G	T	76938788	2	4	217	1	0	0	0	0	0	0	0	1	1208	1066	37	5		5	ATRX	23	76938788	Silent	SNP	G	TCGA-HT-7880-01A-11D-2395-08	888	76938788	78331772	10	9265											
AFF2	2334	broad.mit.edu	37	chrX	148037448	148037448	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagacagtgtctcaaaggAcaattgggaaaaaacagccc	16	6	11	8	0	1	1	1	1	1	1	2	4	1	3	1	2	2	0	1	2	5	1			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chrX:148037448A>G	uc004fcp.3	+	10	2352	c.1873A>G	c.(1873-1875)Aca>Gca	p.T625A	AFF2_uc004fcq.3_Missense_Mutation_p.T615A|AFF2_uc004fcr.3_Missense_Mutation_p.T586A|AFF2_uc011mxb.2_Missense_Mutation_p.T590A|AFF2_uc004fcs.3_Missense_Mutation_p.T592A|AFF2_uc011mxc.2_Missense_Mutation_p.T266A	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	625					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GTCTCAAAGGACAATTGGGAA	0.443													16	104					0	0	1	0	0	G	148037448	A	G	148037448	3	3	217	1	0	0	0	0	1	0	0	0	357	275	10	3	1970	3	AFF2	23	148037448	Missense_Mutation	SNP	A	TCGA-HT-7880-01A-11D-2395-08	71098660	148037448	7233112	11	9266											
PRAMEF17	391004	broad.mit.edu	37	chr1	13718582	13718582	+	Frame_Shift_Del	DEL	G	G	-																															ctctgctagagaaagttgctGctactctcgagatcctcacg																										TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr1:13718582delG	uc009vnz.1	+	2	1075	c.1045delG	c.(1045-1047)gctfs	p.A349fs		NM_001099851	NP_001093321	Q5VTA0	PRA17_HUMAN	Homo sapiens PRAME family member 17 (PRAMEF17), mRNA.	349										kidney(1)|lung(2)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAAAGTTGCTGCTACTCTCGA	0.547													6	7	---	---	---	---						-	13718582	G	-	13718582	7	5	218	1	0	1	0	1	0	0	0	0	12432	1319	46	0	1055	0	PRAMEF17	1	13718582	Frame_Shift_Del	DEL	G	TCGA-HT-7881-01A-11D-2395-08		13718582	235532039	1	9267											
C1orf114	57821	broad.mit.edu	37	chr1	169394121	169394121	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccttttcaaagtcatcttcGtattcttcacttttctttga	7	21	3	10	1	6	1	3	1	3	0	8	1	7	1	1	0	0	1	1	0	2	9			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr1:169394121G>A	uc001gga.1	-	1	213	c.45C>T	c.(43-45)taC>taT	p.Y15Y	C1orf114_uc001gfz.1_Silent_p.Y15Y|C1orf114_uc009wvq.1_Silent_p.Y15Y|C1orf114_uc001ggb.3_Silent_p.Y15Y|C1orf114_uc001ggc.1_Silent_p.Y15Y	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA.	15										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3)	22	all_hematologic(923;0.208)					AGTCATCTTCGTATTCTTCAC	0.289													13	66					0	0	1	0	0	A	169394121	G	A	169394121	2	1	218	1	0	0	0	0	0	0	0	1	1987	1140	40	1		1	C1orf114	1	169394121	Silent	SNP	G	TCGA-HT-7881-01A-11D-2395-08	155675539	169394121	79856500	2	9268											
HSPD1	3329	broad.mit.edu	37	chr2	198352636	198352636	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcacaaaatctccagccatAgcatcataaccaacttctga	15	10	3	13	0	4	1	2	1	2	0	5	1	4	1	3	0	4	1	3	0	5	4			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr2:198352636A>T	uc002uui.3	-	10	1652	c.1515T>A	c.(1513-1515)gcT>gcA	p.A505A	HSPD1_uc010zgx.2_Silent_p.A496A|HSPD1_uc010fsm.3_Silent_p.A316A|HSPD1_uc002uuk.3_Silent_p.A505A	NM_002156	NP_955472	P10809	CH60_HUMAN	Homo sapiens heat shock 60kDa protein 1 (chaperonin) (HSPD1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	505					'de novo' protein folding|B cell cytokine production|B cell proliferation|MyD88-dependent toll-like receptor signaling pathway|T cell activation|activation of caspase activity|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|negative regulation of apoptosis|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|protein maturation|protein refolding|protein stabilization|response to unfolded protein	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|DNA replication origin binding|cell surface binding|chaperone binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			CTCCAGCCATAGCATCATAAC	0.348													5	78					0	0	1	0	0	T	198352636	A	T	198352636	2	4	218	1	0	0	0	0	0	0	0	1	7428	407	15	5		5	HSPD1	2	198352636	Silent	SNP	A	TCGA-HT-7881-01A-11D-2395-08		198352636	44846737	3	9269											
PLCL1	5334	broad.mit.edu	37	chr2	198950679	198950679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagtttatagggcaatataCgataccatttgaatgtttgc	12	15	9	5	1	0	2	0	2	0	0	0	3	0	2	1	1	3	3	1	1	7	8			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr2:198950679C>T	uc010fsp.3	+	1	2836	c.2438C>T	c.(2437-2439)aCg>aTg	p.T813M	PLCL1_uc002uuv.4_Missense_Mutation_p.T734M	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	813	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.T715M(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GGGCAATATACGATACCATTT	0.443													15	124					0	0	1	0	0	T	198950679	C	T	198950679	3	4	218	1	0	0	0	0	1	0	0	0	12039	536	19	1	2444	1	PLCL1	2	198950679	Missense_Mutation	SNP	C	TCGA-HT-7881-01A-11D-2395-08	598043	198950679	44248694	4	9270											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								14	97					0	0	1	0	0	T	209113112	C	T	209113112	3	4	218	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7881-01A-11D-2395-08	10162433	209113112	34086261	5	9271											
ZBTB20	26137	broad.mit.edu	37	chr3	114070191	114070191	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tggagcacgcgtagagtgccGagtagatcctgtccacgctg	8	8	14	11	4	0	2	0	0	0	2	2	4	2	3	3	1	2	4	3	1	2	2			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr3:114070191G>C	uc003ebi.3	-	3	914	c.734C>G	c.(733-735)tCg>tGg	p.S245W	ZBTB20_uc003ebj.3_Missense_Mutation_p.S172W|ZBTB20_uc010hqp.3_Missense_Mutation_p.S172W|ZBTB20_uc003ebk.3_Missense_Mutation_p.S172W|ZBTB20_uc003ebl.3_Missense_Mutation_p.S172W|ZBTB20_uc003ebm.3_Missense_Mutation_p.S172W|ZBTB20_uc003ebn.3_Missense_Mutation_p.S172W|ZBTB20-AS1_uc003ebo.2_5'Flank	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P244L(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTAGAGTGCCGAGTAGATCCT	0.672													13	104					0	0	1	0	0	C	114070191	G	C	114070191	3	2	218	1	0	0	0	0	1	0	0	0	17526	1059	37	5	1499	5	ZBTB20	3	114070191	Missense_Mutation	SNP	G	TCGA-HT-7881-01A-11D-2395-08		114070191	83952239	6	9272											
MAN2B2	23324	broad.mit.edu	37	chr4	6599987	6599987	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgagagacatgtacgcaacGcacctggcctcggggatgct	9	7	14	11	3	0	2	0	1	0	1	1	4	0	3	2	3	3	4	2	3	2	1			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr4:6599987G>A	uc003gjf.1	+	8	1347	c.1311G>A	c.(1309-1311)acG>acA	p.T437T	MAN2B2_uc003gje.1_Silent_p.T437T|MAN2B2_uc011bwf.1_Silent_p.T386T	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	437					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TGTACGCAACGCACCTGGCCT	0.632													6	95					0	0	1	0	0	A	6599987	G	A	6599987	2	1	218	1	0	0	0	0	0	0	0	1	9217	1074	38	1		1	MAN2B2	4	6599987	Silent	SNP	G	TCGA-HT-7881-01A-11D-2395-08		6599987	184554289	7	9273											
CDH12	1010	broad.mit.edu	37	chr5	21975457	21975457	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catctcctgagagggtgtatTtcacagtgccctctcccttg	6	13	9	13	0	3	1	1	1	2	1	5	2	3	1	3	1	1	1	3	1	1	3			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr5:21975457T>C	uc010iuc.2	-	2	727	c.269A>G	c.(268-270)aAa>aGa	p.K90R	CDH12_uc011cno.1_Missense_Mutation_p.K90R|CDH12_uc003jgk.2_Missense_Mutation_p.K90R	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	90	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GAGGGTGTATTTCACAGTGCC	0.463										HNSCC(59;0.17)			14	148					0	0	1	0	0	C	21975457	T	C	21975457	3	2	218	1	0	0	0	0	1	0	0	0	3098	1841	64	3	2155	3	CDH12	5	21975457	Missense_Mutation	SNP	T	TCGA-HT-7881-01A-11D-2395-08		21975457	158939803	8	9274											
AHR	196	broad.mit.edu	37	chr7	17379139	17379139	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaatgaaaaatttttcagaAatgatttttctggtgaggtt	14	16	9	2	0	2	5	1	3	1	2	2	5	2	5	0	2	0	1	0	2	4	5			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr7:17379139A>T	uc011jxz.1	+	9	2303	c.1690A>T	c.(1690-1692)Aat>Tat	p.N564Y		NM_001621	NP_001612	P35869	AHR_HUMAN	Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.	564					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					ATTTTTCAGAAATGATTTTTC	0.353													33	112					0	0	1	0	0	T	17379139	A	T	17379139	3	4	218	1	0	0	0	0	1	0	0	0	416	14	1	5	1728	5	AHR	7	17379139	Missense_Mutation	SNP	A	TCGA-HT-7881-01A-11D-2395-08		17379139	141759524	9	9275											
ZNF425	155054	broad.mit.edu	37	chr7	148801044	148801044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttttgccgcacatcacaCaagagaatggcttttggcca	12	10	8	11	1	1	1	1	0	0	1	1	2	1	1	2	2	2	2	2	2	3	4			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr7:148801044C>T	uc003wfj.3	-	3	2052	c.1919G>A	c.(1918-1920)tGt>tAt	p.C640Y		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	640					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCACATCACACAAGAGAATGG	0.537													17	185					0	0	1	0	0	T	148801044	C	T	148801044	3	4	218	1	0	0	0	0	1	0	0	0	17896	478	17	3	343	3	ZNF425	7	148801044	Missense_Mutation	SNP	C	TCGA-HT-7881-01A-11D-2395-08	131421905	148801044	10337619	10	9276											
PHYHIPL	84457	broad.mit.edu	37	chr10	61007534	61007534	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catttgttagttcacaatgaAtcaagtcattatttaaacat	15	16	4	6	0	3	1	3	1	0	0	3	1	3	1	0	0	1	2	0	0	7	6	rs1459996	by1000genomes	TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr10:61007534A>G	uc001jkk.4	+	5	3580	c.3314_splice	c.e5+1		PHYHIPL_uc001jkl.4_Splice_Site|PHYHIPL_uc001jkm.4_Splice_Site|FAM13C_uc010qid.2_Intron|FAM13C_uc001jkn.3_Intron|FAM13C_uc001jko.3_Intron|FAM13C_uc010qie.2_Intron	NM_032439	NP_115815	Q96FC7	PHIPL_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase interacting protein-like (PHYHIPL), transcript variant 1, mRNA.											NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						TTCACAATGAATCAAGTCATT	0.318													5	54					0	0	1	0	0	G	61007534	A	G	61007534	5	3	218	1	0	0	0	0	0	0	1	0	11867	116	4	3		3	PHYHIPL	10	61007534	Splice_Site	SNP	A	TCGA-HT-7881-01A-11D-2395-08		61007534	74527213	11	9277											
NUP98	4928	broad.mit.edu	37	chr11	3716782	3716782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcatggtgagcagctccCggactgactggctacccaca	9	7	11	14	1	0	2	0	2	0	0	1	3	1	3	2	3	4	4	2	3	1	1	rs144659895	byFrequency	TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr11:3716782C>T	uc001lyh.3	-	25	4485	c.4064G>A	c.(4063-4065)cGg>cAg	p.R1355Q	NUP98_uc001lyi.3_Missense_Mutation_p.R1355Q|NUP98_uc001lyg.3_Missense_Mutation_p.R320Q	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	1372					DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GAGCAGCTCCCGGACTGACTG	0.473			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML								9	145					0	0	1	0	0	T	3716782	C	T	3716782	3	4	218	1	0	0	0	0	1	0	0	0	10773	652	23	2	1370	2	NUP98	11	3716782	Missense_Mutation	SNP	C	TCGA-HT-7881-01A-11D-2395-08		3716782	131289734	12	9278											
ADCY4	196883	broad.mit.edu	37	chr14	24788316	24788316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctctcacccactcgcaggcGgaagttgttgaatgaatgct	9	11	10	11	2	2	2	1	2	1	0	4	3	2	3	1	2	1	4	1	2	3	2	rs61741640	byFrequency	TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr14:24788316G>A	uc001wow.3	-	22	3363	c.2944C>T	c.(2944-2946)Cgc>Tgc	p.R982C	ADCY4_uc010toh.2_Missense_Mutation_p.R668C|ADCY4_uc001wox.3_Missense_Mutation_p.R982C|ADCY4_uc001woy.3_Missense_Mutation_p.R982C	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	982					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		ACTCGCAGGCGGAAGTTGTTG	0.567													7	124					0	0	1	0	0	A	24788316	G	A	24788316	3	1	218	1	0	0	0	0	1	0	0	0	296	1116	39	2	301	2	ADCY4	14	24788316	Missense_Mutation	SNP	G	TCGA-HT-7881-01A-11D-2395-08		24788316	82561224	13	9279											
ENTPD5	957	broad.mit.edu	37	chr14	74442654	74442654	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcacctatgtgtatagagcTtataagtgctgttaaacatc	12	14	7	8	0	1	1	1	0	0	1	2	1	1	1	1	0	3	4	1	0	7	6			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr14:74442654T>C	uc010tuo.2	-	9	1018	c.707A>G	c.(706-708)aAg>aGg	p.K236R	ENTPD5_uc001xpi.3_Missense_Mutation_p.K236R	NM_001249	NP_001240	O75356	ENTP5_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 5 (ENTPD5), mRNA.	236					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		TGTATAGAGCTTATAAGTGCT	0.378													9	120					0	0	1	0	0	C	74442654	T	C	74442654	3	2	218	1	0	0	0	0	1	0	0	0	5142	1609	56	4	607	4	ENTPD5	14	74442654	Missense_Mutation	SNP	T	TCGA-HT-7881-01A-11D-2395-08	49654338	74442654	32906886	14	9280											
PLD4	122618	broad.mit.edu	37	chr14	105399118	105399118	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcacctccaactggtcGgaggattacttcagcagcac	10	7	11	13	1	1	0	1	0	0	0	3	2	2	2	2	4	4	4	2	4	2	2			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr14:105399118G>A	uc010tyl.1	+	10	1517	c.1359G>A	c.(1357-1359)tcG>tcA	p.S453S	PLD4_uc001ypu.1_Silent_p.S446S	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	Homo sapiens phospholipase D family, member 4 (PLD4), mRNA.	446					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	CCAACTGGTCGGAGGATTACT	0.736													2	7					0	0	1	0	0	A	105399118	G	A	105399118	2	1	218	1	0	0	0	0	0	0	0	1	12048	1103	39	2		2	PLD4	14	105399118	Silent	SNP	G	TCGA-HT-7881-01A-11D-2395-08	30956464	105399118	1950422	15	9281											
PKD1	5310	broad.mit.edu	37	chr16	2139950	2139950	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagacgtcctctgtggcctgGttgagtcggtcaaactgggt	6	12	14	9	2	2	2	1	1	1	1	4	2	3	2	2	4	1	1	2	4	2	2	rs148433208	byFrequency	TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr16:2139950G>A	uc002cos.1	-	45	12899	c.12690C>T	c.(12688-12690)aaC>aaT	p.N4230N	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.N4229N	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	4230					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTGTGGCCTGGTTGAGTCGGT	0.687													4	22					0	0	1	0	0	A	2139950	G	A	2139950	2	1	218	1	0	0	0	0	0	0	0	1	11963	1252	44	3		3	PKD1	16	2139950	Silent	SNP	G	TCGA-HT-7881-01A-11D-2395-08		2139950	88214803	16	9282											
P2RX1	5023	broad.mit.edu	37	chr17	3801122	3801122	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagcatcaggatgtcctcaTgttctcctgcaggcccaggg	7	9	12	13	1	3	0	2	0	1	0	5	2	4	1	3	3	2	3	3	3	0	1	rs34617528	byFrequency	TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr17:3801122T>C	uc002fww.3	-	11	1627	c.1186A>G	c.(1186-1188)Atg>Gtg	p.M396V		NM_002558	NP_002549	P51575	P2RX1_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 1 (P2RX1), mRNA.	396			M -> V (in dbSNP:rs34617528).		platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		GATGTCCTCATGTTCTCCTGC	0.647													4	29					0	0	1	0	0	C	3801122	T	C	3801122	3	2	218	1	0	0	0	0	1	0	0	0	11339	1464	51	3	17	3	P2RX1	17	3801122	Missense_Mutation	SNP	T	TCGA-HT-7881-01A-11D-2395-08		3801122	77394088	17	9283											
CLDN14	23562	broad.mit.edu	37	chr21	37833827	37833827	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagatgcctgtgctgtgcCacacacactccatccagagc	9	8	10	14	0	0	2	0	0	0	2	2	2	2	2	4	1	4	2	4	1	1	1			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr21:37833827C>T	uc021wja.1	-	0	167	c.167G>A	c.(166-168)tGg>tAg	p.W56*	CLDN14_uc002yvn.1_Nonsense_Mutation_p.W56*|CLDN14_uc002yvo.1_Nonsense_Mutation_p.W56*|CLDN14_uc002yvk.1_Nonsense_Mutation_p.W56*|CLDN14_uc002yvl.1_Nonsense_Mutation_p.W56*|CLDN14_uc002yvm.1_Nonsense_Mutation_p.W56*	NM_144492	NP_652763	O95500	CLD14_HUMAN	Homo sapiens claudin 14 (CLDN14), transcript variant 1, mRNA.	56					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						TGTGCTGTGCCACACACACTC	0.637													5	41					0	0	1	0	0	T	37833827	C	T	37833827	4	4	218	1	0	0	0	0	0	1	0	0	3475	595	21	3	556	3	CLDN14	21	37833827	Nonsense_Mutation	SNP	C	TCGA-HT-7881-01A-11D-2395-08		37833827	10296068	18	9284											
SBF1	6305	broad.mit.edu	37	chr22	50898008	50898008	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgcgccagcagaccacGgggaagcggttctggcggta	7	5	16	13	5	1	1	0	0	1	1	1	2	1	2	3	5	3	4	3	5	2	2			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr22:50898008G>A	uc003blh.3	-	26	3774	c.3579C>T	c.(3577-3579)ccC>ccT	p.P1193P	SBF1_uc011arx.2_Silent_p.P857P	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	1193	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		AGCAGACCACGGGGAAGCGGT	0.677													4	48					0	0	1	0	0	A	50898008	G	A	50898008	2	1	218	1	0	0	0	0	0	0	0	1	13858	1103	39	2		2	SBF1	22	50898008	Silent	SNP	G	TCGA-HT-7881-01A-11D-2395-08		50898008	406558	19	9285											
TAS1R2	80834	broad.mit.edu	37	chr1	19181133	19181133	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtggtacagggtcaggtcGggcgagaacacgaccacgac	12	4	15	10	4	1	1	1	0	0	1	2	4	1	1	1	4	2	1	1	4	3	1			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr1:19181133G>A	uc001bba.1	-	2	832	c.831C>T	c.(829-831)ccC>ccT	p.P277P		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	277					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GGGTCAGGTCGGGCGAGAACA	0.632													6	45					0	0	1	0	0	A	19181133	G	A	19181133	2	1	219	1	0	0	0	0	0	0	0	1	15560	1103	39	2		2	TAS1R2	1	19181133	Silent	SNP	G	TCGA-HT-7882-01A-11D-2395-08		19181133	230069488	1	9286											
GLIS1	148979	broad.mit.edu	37	chr1	53995560	53995560	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggtacggcttctcgccCgtgtggctcctcaggtggat	5	10	13	13	3	2	0	1	0	1	0	4	1	3	1	2	5	1	3	2	5	1	2			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr1:53995560C>T	uc001cvr.1	-	3	1428	c.861G>A	c.(859-861)acG>acA	p.T287T		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	287					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GCTTCTCGCCCGTGTGGCTCC	0.637													9	65					0	0	1	0	0	T	53995560	C	T	53995560	2	4	219	1	0	0	0	0	0	0	0	1	6445	639	23	2		2	GLIS1	1	53995560	Silent	SNP	C	TCGA-HT-7882-01A-11D-2395-08	34814427	53995560	195255061	2	9287											
FMO3	2328	broad.mit.edu	37	chr1	171079965	171079965	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagttccagaagtggctcCtgggtgatgagccgggtctg	7	10	15	9	1	2	3	1	2	1	1	4	3	4	3	3	3	1	2	3	3	1	1			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr1:171079965C>G	uc001ghi.3	+	5	765	c.654C>G	c.(652-654)tcC>tcG	p.S218S	FMO3_uc001ghh.3_Silent_p.S218S|FMO3_uc010pmb.2_Silent_p.S198S|FMO3_uc010pmc.2_Silent_p.S155S	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	218					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAAGTGGCTCCTGGGTGATGA	0.473													10	96					0	0	1	0	0	G	171079965	C	G	171079965	2	3	219	1	0	0	0	0	0	0	0	1	5956	668	24	5		5	FMO3	1	171079965	Silent	SNP	C	TCGA-HT-7882-01A-11D-2395-08	117084405	171079965	78170656	3	9288											
CFH	3075	broad.mit.edu	37	chr1	196716352	196716352	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcagttgaatttgtgtgtaAacggggatatcgtctttcat	10	16	10	5	2	3	1	2	1	1	0	4	2	3	2	0	2	1	2	0	2	4	5			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr1:196716352A>T	uc001gtj.4	+	21	3845	c.3605A>T	c.(3604-3606)aAa>aTa	p.K1202I	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1202	Sushi 20.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTTGTGTGTAAACGGGGATAT	0.383													15	85					0	0	1	0	0	T	196716352	A	T	196716352	3	4	219	1	0	0	0	0	1	0	0	0	3283	14	1	5	3709	5	CFH	1	196716352	Missense_Mutation	SNP	A	TCGA-HT-7882-01A-11D-2395-08	25636387	196716352	52534269	4	9289											
KDM5B	10765	broad.mit.edu	37	chr1	202702739	202702739	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagggaggcgagcaggggCagaattttctctaatggagg	11	8	17	5	1	1	2	0	1	1	1	2	5	1	4	0	6	1	2	0	6	3	3			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr1:202702739C>T	uc009xag.3	-	23	3923	c.3807G>A	c.(3805-3807)ctG>ctA	p.L1269L	KDM5B_uc001gyf.3_Silent_p.L1233L|KDM5B_uc001gyg.1_Silent_p.L1075L	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	1233					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CGAGCAGGGGCAGAATTTTCT	0.532													14	68					0	0	1	0	0	T	202702739	C	T	202702739	2	4	219	1	0	0	0	0	0	0	0	1	8134	697	25	3		3	KDM5B	1	202702739	Silent	SNP	C	TCGA-HT-7882-01A-11D-2395-08	5986387	202702739	46547882	5	9290											
OR13G1	441933	broad.mit.edu	37	chr1	247835492	247835492	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctggaagctgtacaccatCgggtttaatgtgggagtcac	9	12	12	8	1	2	0	1	0	1	0	3	2	2	2	1	3	2	3	1	3	3	4			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr1:247835492C>T	uc001idi.1	-	0	852	c.852G>A	c.(850-852)ccG>ccA	p.P284P		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGTACACCATCGGGTTTAATG	0.438													16	81					0	0	1	0	0	T	247835492	C	T	247835492	2	4	219	1	0	0	0	0	0	0	0	1	10942	871	31	2		2	OR13G1	1	247835492	Silent	SNP	C	TCGA-HT-7882-01A-11D-2395-08	45132753	247835492	1415129	6	9291											
DPP10	57628	broad.mit.edu	37	chr2	116497433	116497433	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccctcggtttactggagcGttgtatcccaaaggaaagca	11	10	10	10	2	0	0	0	0	0	0	3	2	2	2	2	3	3	4	2	3	4	4			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr2:116497433G>A	uc002tle.3	+	8	849	c.828G>A	c.(826-828)gcG>gcA	p.A276A	DPP10_uc002tla.2_Silent_p.A272A|DPP10_uc002tlb.2_Silent_p.A222A|DPP10_uc002tlc.2_Silent_p.A268A|DPP10_uc002tlf.2_Silent_p.A265A	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	272					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTACTGGAGCGTTGTATCCCA	0.458													19	119					0	0	1	0	0	A	116497433	G	A	116497433	2	1	219	1	0	0	0	0	0	0	0	1	4727	1132	40	1		1	DPP10	2	116497433	Silent	SNP	G	TCGA-HT-7882-01A-11D-2395-08		116497433	126701940	7	9292											
POTEE	445582	broad.mit.edu	37	chr2	131976382	131976382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcccaggtaccacgtccGtggagaagatctggacaagc	11	5	14	11	2	1	2	0	0	1	2	2	5	2	4	3	4	3	1	3	4	3	1			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr2:131976382G>A	uc002tsn.2	+	0	459	c.407G>A	c.(406-408)cGt>cAt	p.R136H	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	136							ATP binding										TACCACGTCCGTGGAGAAGAT	0.592													13	90					0	0	1	0	0	A	131976382	G	A	131976382	3	1	219	1	0	0	0	0	1	0	0	0	12264	1145	40	1	409	1	POTEE	2	131976382	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08	15478949	131976382	111222991	8	9293											
CWC22	57703	broad.mit.edu	37	chr2	180810177	180810177	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatttcttggtctctgtcAttcgcaactctactgtagtt	6	18	7	10	1	4	0	1	0	3	0	6	0	4	0	0	1	3	4	0	1	3	6			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr2:180810177A>G	uc010frh.1	-	19	2706	c.2406T>C	c.(2404-2406)aaT>aaC	p.N802N	CWC22_uc002uno.2_Silent_p.N324N|CWC22_uc002unp.2_Silent_p.N802N	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN	Homo sapiens CWC22 spliceosome-associated protein homolog (S. cerevisiae) (CWC22), mRNA.	802						catalytic step 2 spliceosome	RNA binding|protein binding	p.A801T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						GGTCTCTGTCATTCGCAACTC	0.353													9	117					0	0	1	0	0	G	180810177	A	G	180810177	2	3	219	1	0	0	0	0	0	0	0	1	4068	214	8	3		3	CWC22	2	180810177	Silent	SNP	A	TCGA-HT-7882-01A-11D-2395-08	48833795	180810177	62389196	9	9294											
CEP97	79598	broad.mit.edu	37	chr3	101476897	101476897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgagaaagctggactattaCcttgtcctgagccaacaata	14	10	8	9	0	0	2	0	2	0	1	1	4	1	3	3	1	4	1	3	1	6	4			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr3:101476897C>T	uc003dvk.1	+	8	1474	c.1447C>T	c.(1447-1449)Cct>Tct	p.P483S	CEP97_uc010hpm.1_Missense_Mutation_p.P449S|CEP97_uc011bhf.1_Missense_Mutation_p.P424S|CEP97_uc003dvl.1_Missense_Mutation_p.P179S|CEP97_uc003dvm.1_Missense_Mutation_p.P321S	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	Homo sapiens centrosomal protein 97kDa (CEP97), mRNA.	483	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TGGACTATTACCTTGTCCTGA	0.378													16	75					0	0	1	0	0	T	101476897	C	T	101476897	3	4	219	1	0	0	0	0	1	0	0	0	3263	507	18	3	1481	3	CEP97	3	101476897	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08		101476897	96545533	10	9295											
PIK3CA	5290	broad.mit.edu	37	chr3	178922364	178922364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacactcaaagagtaccttGttccaatcccaggtaaggaa	15	8	8	10	0	1	1	1	0	0	1	3	3	3	2	3	2	2	3	3	2	6	4			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr3:178922364G>A	uc003fjk.3	+	5	1290	c.1133G>A	c.(1132-1134)tGt>tAt	p.C378Y		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	378	C2 PI3K-type.				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.C378R(5)|p.C378Y(3)|p.C378F(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGAGTACCTTGTTCCAATCCC	0.328		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			4	49					0	0	1	0	0	A	178922364	G	A	178922364	3	1	219	1	0	0	0	0	1	0	0	0	11913	1377	48	3	1151	3	PIK3CA	3	178922364	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08	77445467	178922364	19100066	11	9296											
B3GNT5	84002	broad.mit.edu	37	chr3	182988131	182988131	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttcagttgggcaaatacctAttgtccacatgccaaatttc	11	13	7	10	0	1	0	1	0	0	0	3	0	2	0	3	1	2	3	3	1	4	6			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr3:182988131A>G	uc003flm.3	+	1	1068	c.545A>G	c.(544-546)tAt>tGt	p.Y182C	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003flk.3_Missense_Mutation_p.Y182C|B3GNT5_uc003fll.3_Missense_Mutation_p.Y182C|B3GNT5_uc021xic.1_Missense_Mutation_p.Y182C	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 (B3GNT5), mRNA.	182					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GCAAATACCTATTGTCCACAT	0.333													19	82					0	0	1	0	0	G	182988131	A	G	182988131	3	3	219	1	0	0	0	0	1	0	0	0	1260	449	16	3	547	3	B3GNT5	3	182988131	Missense_Mutation	SNP	A	TCGA-HT-7882-01A-11D-2395-08	4065767	182988131	15034299	12	9297											
PDGFRA	5156	broad.mit.edu	37	chr4	55131161	55131161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacgattgtggtcacctGtgctgtttttaacaatgagg	10	13	12	6	1	1	1	1	1	0	0	1	3	1	2	1	3	3	2	1	3	3	4			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr4:55131161G>A	uc003han.4	+	4	1035	c.704G>A	c.(703-705)tGt>tAt	p.C235Y	PDGFRA_uc003haa.3_Intron|PDGFRA_uc003hal.3_3'UTR|PDGFRA_uc010igq.1_Missense_Mutation_p.C129Y|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	235	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.C235Y(2)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GTGGTCACCTGTGCTGTTTTT	0.443			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			510	129					0	0	1	0	0	A	55131161	G	A	55131161	3	1	219	1	0	0	0	0	1	0	0	0	11661	1377	48	3	718	3	PDGFRA	4	55131161	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08		55131161	136023115	13	9298											
TET2	54790	broad.mit.edu	37	chr4	106157894	106157894	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtttttcctgtgcctgAccagggaggaagtcacactc	10	11	10	10	0	1	1	1	1	0	0	3	3	2	3	3	2	1	1	3	2	2	2			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr4:106157894A>G	uc011cez.2	+	2	3263	c.2858A>G	c.(2857-2859)gAc>gGc	p.D953G	TET2_uc003hxk.3_Missense_Mutation_p.D932G|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.D932G|TET2_uc010ilp.2_Missense_Mutation_p.D932G|TET2_uc021xql.1_Missense_Mutation_p.D932G	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	932	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.R953fs*19(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CCTGTGCCTGACCAGGGAGGA	0.453			"Mis N, F"		MDS								12	37					0	0	1	0	0	G	106157894	A	G	106157894	3	3	219	1	0	0	0	0	1	0	0	0	15767	275	10	3	2797	3	TET2	4	106157894	Missense_Mutation	SNP	A	TCGA-HT-7882-01A-11D-2395-08	51026733	106157894	84996382	14	9299											
SLC6A3	6531	broad.mit.edu	37	chr5	1406358	1406358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgccagtacaggctgggcCgctgcccggtcatctgctgg	4	7	15	15	3	2	0	1	0	1	0	2	0	2	0	4	4	3	4	4	4	1	1			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr5:1406358C>T	uc003jck.3	-	11	1670	c.1544G>A	c.(1543-1545)cGg>cAg	p.R515Q		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	515					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		p.Q514*(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CAGGCTGGGCCGCTGCCCGGT	0.652													9	114					0	0	1	0	0	T	1406358	C	T	1406358	3	4	219	1	0	0	0	0	1	0	0	0	14685	652	23	2	334	2	SLC6A3	5	1406358	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08		1406358	179508902	15	9300			1	20		2	2	29	C		5.155448e-05
SLC6A3	6531	broad.mit.edu	37	chr5	1406386	1406386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtcatctgctggatgtcgtCgctgaactgcccaacacctg	7	10	11	13	2	2	1	1	1	1	0	4	2	2	2	2	2	4	2	2	2	2	0			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr5:1406386C>T	uc003jck.3	-	11	1642	c.1516G>A	c.(1516-1518)Gac>Aac	p.D506N		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	506					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TGGATGTCGTCGCTGAACTGC	0.642													11	117					0	0	1	0	0	T	1406386	C	T	1406386	3	4	219	1	0	0	0	0	1	0	0	0	14685	884	31	2	362	2	SLC6A3	5	1406386	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	28	1406386	179508874	16	9301			1	20		2	2	29	C		5.155448e-05
CDC20B	166979	broad.mit.edu	37	chr5	54424345	54424345	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagtgagacttaagtctatGttttcaatcccattgtggtt	10	16	8	7	0	2	1	1	1	1	1	3	2	3	1	1	1	0	2	1	1	4	6			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr5:54424345G>T	uc003jpo.2	-	6	975	c.798C>A	c.(796-798)aaC>aaA	p.N266K	CDC20B_uc003jpn.2_Missense_Mutation_p.N266K|CDC20B_uc010ivu.2_Missense_Mutation_p.N266K|CDC20B_uc010ivv.2_Missense_Mutation_p.N266K	NM_001170402	NP_001163873	Q86Y33	CD20B_HUMAN	Homo sapiens cell division cycle 20 homolog B (S. cerevisiae) (CDC20B), transcript variant 3, mRNA.	266										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			TTAAGTCTATGTTTTCAATCC	0.448													8	68					0.00448238	0.00460034	1	1	0	T	54424345	G	T	54424345	3	4	219	1	0	0	0	0	1	0	0	0	3060	1368	48	5	785	5	CDC20B	5	54424345	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08	53017959	54424345	126490915	17	9302											
GPR98	84059	broad.mit.edu	37	chr5	89979459	89979459	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcattggaacatagactcTgatcctgatggtgatctcgc	9	13	10	9	1	2	4	0	3	2	1	4	5	3	5	1	2	2	1	1	2	2	3			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr5:89979459T>C	uc003kju.3	+	27	5817	c.5721T>C	c.(5719-5721)tcT>tcC	p.S1907S	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1907					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACATAGACTCTGATCCTGATG	0.403													3	25					0	0	1	0	0	C	89979459	T	C	89979459	2	2	219	1	0	0	0	0	0	0	0	1	6721	1567	55	4		4	GPR98	5	89979459	Silent	SNP	T	TCGA-HT-7882-01A-11D-2395-08	35555114	89979459	90935801	18	9303											
SLCO4C1	353189	broad.mit.edu	37	chr5	101582955	101582955	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atttctcaacgtgctacataCcttaggatagacacagttat	13	13	6	9	1	1	1	1	0	1	1	2	2	1	2	1	1	4	2	1	1	6	6			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr5:101582955C>A	uc003knm.3	-	10	2098	c.1811_splice	c.e10+1	p.R604_splice		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	604					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GTGCTACATACCTTAGGATAG	0.378													9	48					3.09899e-07	3.2665e-07	1	1	0	A	101582955	C	A	101582955	5	1	219	1	0	0	0	0	0	0	1	0	14730	521	18	5	378	5	SLCO4C1	5	101582955	Splice_Site	SNP	C	TCGA-HT-7882-01A-11D-2395-08	11603496	101582955	79332305	19	9304											
C6orf10	10665	broad.mit.edu	37	chr6	32261388	32261388	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtacaaccaacccactcttCgttacttgggcttcttgtcc	8	13	6	14	1	2	0	0	0	2	0	4	0	3	0	3	1	4	3	3	1	4	6			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr6:32261388C>T	uc021yvt.1	-	22	1235	c.1062G>A	c.(1060-1062)acG>acA	p.T354T	C6orf10_uc011dpx.2_Silent_p.T345T|C6orf10_uc021yvs.1_Silent_p.T271T|C6orf10_uc011dpz.2_Silent_p.T352T|C6orf10_uc021yvu.1_Silent_p.T352T|C6orf10_uc021yvv.1_Silent_p.T338T	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA.	354						integral to membrane		p.T354M(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						ACCCACTCTTCGTTACTTGGG	0.468													20	124					0	0	1	0	0	T	32261388	C	T	32261388	2	4	219	1	0	0	0	0	0	0	0	1	2317	871	31	2		2	C6orf10	6	32261388	Silent	SNP	C	TCGA-HT-7882-01A-11D-2395-08		32261388	138853679	20	9305											
TEAD3	7005	broad.mit.edu	37	chr6	35445110	35445110	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcgtcggcggcaggggCggctggatggggtaggctgg	4	6	23	8	4	0	1	0	1	0	0	1	2	0	2	0	10	1	4	0	10	1	1			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr6:35445110C>T	uc003oku.4	-	7	806	c.570G>A	c.(568-570)ccG>ccA	p.P190P	TEAD3_uc003okt.3_Silent_p.P79P|TEAD3_uc010jvx.3_Silent_p.P130P	NM_003214	NP_003205	Q99594	TEAD3_HUMAN	Homo sapiens TEA domain family member 3 (TEAD3), mRNA.	190	Pro-rich.|Transcriptional activation (Potential).				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						GCGGCAGGGGCGGCTGGATGG	0.627													3	20					0	0	1	0	0	T	35445110	C	T	35445110	2	4	219	1	0	0	0	0	0	0	0	1	15737	755	27	1		1	TEAD3	6	35445110	Silent	SNP	C	TCGA-HT-7882-01A-11D-2395-08	3183722	35445110	135669957	21	9306											
PRSS35	167681	broad.mit.edu	37	chr6	84233953	84233953	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattccgaagggctgggcaCgaggaggcatgggggacgct	9	5	18	9	3	0	0	0	0	0	0	1	4	1	2	1	6	0	4	1	6	1	1			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr6:84233953C>T	uc003pjz.3	+	1	1033	c.793C>T	c.(793-795)Cga>Tga	p.R265*	PRSS35_uc010kbm.3_Nonsense_Mutation_p.R265*|PRSS35_uc021zce.1_Nonsense_Mutation_p.R265*	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA.	265	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.A264T(1)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GGGCTGGGCACGAGGAGGCAT	0.527													8	60					0	0	1	0	0	T	84233953	C	T	84233953	4	4	219	1	0	0	0	0	0	1	0	0	12624	528	19	1	795	1	PRSS35	6	84233953	Nonsense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	48788843	84233953	86881114	22	9307											
SAMD3	154075	broad.mit.edu	37	chr6	130497110	130497110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catcatcttctatgggtcttCgaacatatttaaagcgatct	11	15	6	9	2	5	0	1	0	4	0	6	2	5	0	0	1	2	0	0	1	5	6			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr6:130497110C>T	uc003qbw.3	-	7	1026	c.698G>A	c.(697-699)cGa>cAa	p.R233Q	SAMD3_uc003qbx.3_Missense_Mutation_p.R233Q|SAMD3_uc010kfg.1_3'UTR	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN	Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA.	233								p.R233*(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TATGGGTCTTCGAACATATTT	0.343													9	43					0	0	1	0	0	T	130497110	C	T	130497110	3	4	219	1	0	0	0	0	1	0	0	0	13820	884	31	2	884	2	SAMD3	6	130497110	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	46263157	130497110	40617957	23	9308											
PDE7B	27115	broad.mit.edu	37	chr6	136494954	136494954	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatatgtctgtgctggagaAtcatcactggcgatctacaa	12	11	10	8	1	4	1	2	0	2	1	4	4	4	1	0	2	2	1	0	2	5	2			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr6:136494954A>G	uc003qgp.3	+	8	1034	c.731A>G	c.(730-732)aAt>aGt	p.N244S	AJ606316_uc003qgq.1_Intron|PDE7B_uc003qgr.3_Missense_Mutation_p.N296S	NM_018945	NP_061818	Q9NP56	PDE7B_HUMAN	Homo sapiens phosphodiesterase 7B (PDE7B), mRNA.	244	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	GTGCTGGAGAATCATCACTGG	0.428													10	40					0	0	1	0	0	G	136494954	A	G	136494954	3	3	219	1	0	0	0	0	1	0	0	0	11652	101	4	3	765	3	PDE7B	6	136494954	Missense_Mutation	SNP	A	TCGA-HT-7882-01A-11D-2395-08	5997844	136494954	34620113	24	9309											
PPP1R3A	5506	broad.mit.edu	37	chr7	113517983	113517983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcttgactttcctcaacaGgaagactagtagaagcagag	14	8	11	8	0	1	4	1	1	0	3	2	6	2	5	1	1	3	3	1	1	5	4			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr7:113517983G>A	uc010ljy.1	-	3	3195	c.3164C>T	c.(3163-3165)cCt>cTt	p.P1055L		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	1055					glycogen metabolic process	integral to membrane		p.L1054P(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTCCTCAACAGGAAGACTAGT	0.363													18	150					0	0	1	0	0	A	113517983	G	A	113517983	3	1	219	1	0	0	0	0	1	0	0	0	12371	1000	35	3	208	3	PPP1R3A	7	113517983	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08		113517983	45620680	25	9310											
ASZ1	136991	broad.mit.edu	37	chr7	117067417	117067417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctccgctacctgagacGtccggtcgagatacccaatc	8	8	8	17	4	0	2	0	1	0	2	5	4	3	2	6	1	2	1	6	1	3	2	rs113501399		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr7:117067417G>A	uc003vjb.2	-	0	161	c.98C>T	c.(97-99)aCg>aTg	p.T33M	ASZ1_uc011kno.1_Missense_Mutation_p.T33M|ASZ1_uc011knp.1_5'UTR	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.	33					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TACCTGAGACGTCCGGTCGAG	0.657													24	148					0	0	1	0	0	A	117067417	G	A	117067417	3	1	219	1	0	0	0	0	1	0	0	0	1069	1145	40	1	1381	1	ASZ1	7	117067417	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08	3549434	117067417	42071246	26	9311											
JHDM1D	80853	broad.mit.edu	37	chr7	139810958	139810958	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtctaacattgtctggAatttcaaaggcatgttcaga	12	12	9	8	0	4	1	2	0	2	1	4	2	4	2	1	3	1	2	1	3	3	4			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr7:139810958A>C	uc003vvm.3	-	10	1369	c.1365T>G	c.(1363-1365)atT>atG	p.I455M	JHDM1D_uc010lng.3_Non-coding_Transcript	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	455					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					CATTGTCTGGAATTTCAAAGG	0.294													6	35					0	0	1	0	0	C	139810958	A	C	139810958	3	2	219	1	0	0	0	0	1	0	0	0	7948	242	9	5	1500	5	JHDM1D	7	139810958	Missense_Mutation	SNP	A	TCGA-HT-7882-01A-11D-2395-08	22743541	139810958	19327705	27	9312											
TAS2R40	259286	broad.mit.edu	37	chr7	142919425	142919425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattttcagtctgctattccGaattgtttataaccaaaact	12	16	4	9	1	2	0	1	0	1	0	3	1	3	0	2	0	3	2	2	0	6	8			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr7:142919425G>A	uc011ksx.2	+	0	254	c.254G>A	c.(253-255)cGa>cAa	p.R85Q		NM_176882	NP_795363	P59535	T2R40_HUMAN	Homo sapiens taste receptor, type 2, member 40 (TAS2R40), mRNA.	85					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					CTGCTATTCCGAATTGTTTAT	0.433													12	113					0	0	1	0	0	A	142919425	G	A	142919425	3	1	219	1	0	0	0	0	1	0	0	0	15575	1058	37	2	256	2	TAS2R40	7	142919425	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08	3108467	142919425	16219238	28	9313											
EFCAB1	79645	broad.mit.edu	37	chr8	49643961	49643961	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcacatgcaggatgtttcGaaatgcattacgatccagtc	11	12	9	9	2	1	0	1	0	0	0	4	3	2	1	1	1	3	3	1	1	2	2			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr8:49643961G>A	uc003xqo.2	-	1	320	c.160C>T	c.(160-162)Cga>Tga	p.R54*	EFCAB1_uc003xqn.3_Intron|EFCAB1_uc011ldj.1_Intron|EFCAB1_uc010lxx.2_Intron|EFCAB1_uc011ldk.1_Intron	NM_024593	NP_078869	Q9HAE3	EFCB1_HUMAN	Homo sapiens EF-hand calcium binding domain 1 (EFCAB1), transcript variant 1, mRNA.	54							calcium ion binding	p.R54Q(1)		endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				AGGATGTTTCGAAATGCATTA	0.393													6	31					0	0	1	0	0	A	49643961	G	A	49643961	4	1	219	1	0	0	0	0	0	1	0	0	4933	1066	37	2	495	2	EFCAB1	8	49643961	Nonsense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08		49643961	96720061	29	9314											
ASS1	445	broad.mit.edu	37	chr9	133333962	133333962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggccaagtatgtgtcccacGgcgccacaggaaaggtgagg	10	5	16	10	2	0	1	0	1	0	0	1	2	1	2	3	5	0	1	3	5	3	1			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr9:133333962G>A	uc010mza.3	+	4	1085	c.577G>A	c.(577-579)Ggc>Agc	p.G193S	ASS1_uc004bzm.3_Missense_Mutation_p.G117S|ASS1_uc004bzn.3_Missense_Mutation_p.G117S	NM_054012	NP_446464	P00966	ASSY_HUMAN	Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA.	117					arginine biosynthetic process|urea cycle	cytosol	ATP binding|argininosuccinate synthase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	TGTGTCCCACGGCGCCACAGG	0.657													5	22					0	0	1	0	0	A	133333962	G	A	133333962	3	1	219	1	0	0	0	0	1	0	0	0	1061	1116	39	2	359	2	ASS1	9	133333962	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08		133333962	7879469	30	9315											
SURF2	6835	broad.mit.edu	37	chr9	136227174	136227174	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaggaccttggaagcaCggaggatggggatggcactg	12	5	17	7	1	0	1	0	0	0	1	0	6	0	6	1	7	1	2	1	7	2	1			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr9:136227174C>T	uc004cdi.2	+	4	599	c.551C>T	c.(550-552)aCg>aTg	p.T184M		NM_017503	NP_059973	Q15527	SURF2_HUMAN	Homo sapiens surfeit 2 (SURF2), mRNA.	184							protein binding			breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		CTTGGAAGCACGGAGGATGGG	0.527													4	49					0	0	1	0	0	T	136227174	C	T	136227174	3	4	219	1	0	0	0	0	1	0	0	0	15401	536	19	1	569	1	SURF2	9	136227174	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	2893212	136227174	4986257	31	9316											
PNLIPRP1	5407	broad.mit.edu	37	chr10	118364948	118364948	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgagtttgatgcaaagcTggatgttggaacaattgaga	13	12	12	4	0	0	3	0	3	0	1	0	6	0	5	0	2	3	4	0	2	4	4			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr10:118364948T>C	uc001lco.1	+	11	1241	c.1223T>C	c.(1222-1224)cTg>cCg	p.L408P	PNLIPRP1_uc001lcp.2_Missense_Mutation_p.L408P	NM_006229	NP_006220	P54315	LIPR1_HUMAN	Homo sapiens pancreatic lipase-related protein 1 (PNLIPRP1), mRNA.	408	PLAT.				lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GATGCAAAGCTGGATGTTGGA	0.413													6	89					0	0	1	0	0	C	118364948	T	C	118364948	3	2	219	1	0	0	0	0	1	0	0	0	12150	1580	55	4	1265	4	PNLIPRP1	10	118364948	Missense_Mutation	SNP	T	TCGA-HT-7882-01A-11D-2395-08		118364948	17169799	32	9317											
MKI67	4288	broad.mit.edu	37	chr10	129902797	129902797	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctttgaagccaaccaggTcctctagagcctcagccttt	8	12	8	13	0	3	2	1	1	2	1	4	2	4	2	5	1	4	1	5	1	3	4			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr10:129902797T>C	uc001lke.3	-	12	7502	c.7307A>G	c.(7306-7308)gAc>gGc	p.D2436G	MKI67_uc001lkf.3_Missense_Mutation_p.D2076G|MKI67_uc009yav.1_Missense_Mutation_p.D2011G|MKI67_uc009yaw.1_Missense_Mutation_p.D1586G	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2436	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCCAACCAGGTCCTCTAGAGC	0.473													25	101					0	0	1	0	0	C	129902797	T	C	129902797	3	2	219	1	0	0	0	0	1	0	0	0	9598	1667	58	3	2475	3	MKI67	10	129902797	Missense_Mutation	SNP	T	TCGA-HT-7882-01A-11D-2395-08	11537849	129902797	5631950	33	9318											
CCKBR	887	broad.mit.edu	37	chr11	6292257	6292257	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaggggctgttcaccagaaCgggcgttgccggcctgagac	7	7	15	12	3	2	2	2	1	0	2	2	3	2	2	3	4	2	3	3	4	1	2			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr11:6292257C>T	uc001mcp.3	+	4	1083	c.828C>T	c.(826-828)aaC>aaT	p.N276N	CCKBR_uc001mcq.3_Silent_p.N204N|CCKBR_uc001mcr.3_Silent_p.N276N|CCKBR_uc001mcs.3_Silent_p.N345N|CCKBR_uc001mct.1_Non-coding_Transcript	NM_176875	NP_795344	P32239	GASR_HUMAN	Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	276					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TTCACCAGAACGGGCGTTGCC	0.662													13	110					0	0	1	0	0	T	6292257	C	T	6292257	2	4	219	1	0	0	0	0	0	0	0	1	2881	535	19	1		1	CCKBR	11	6292257	Silent	SNP	C	TCGA-HT-7882-01A-11D-2395-08		6292257	128714259	34	9319											
MADD	8567	broad.mit.edu	37	chr11	47304014	47304014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtaccctgcgcctctttcctCggcctgtggtagcttttcaa	4	14	9	14	2	2	0	1	0	1	0	4	0	3	0	4	2	3	3	4	2	3	5			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr11:47304014C>T	uc001ner.1	+	8	1743	c.1552C>T	c.(1552-1554)Cgg>Tgg	p.R518W	MADD_uc001neq.2_Missense_Mutation_p.R518W|MADD_uc001nev.1_Missense_Mutation_p.R518W|MADD_uc001nes.1_Missense_Mutation_p.R518W|MADD_uc001net.1_Missense_Mutation_p.R518W|MADD_uc009yln.1_Missense_Mutation_p.R518W|MADD_uc001neu.1_Missense_Mutation_p.R518W|MADD_uc001nez.2_Missense_Mutation_p.R518W|MADD_uc001new.2_Missense_Mutation_p.R518W|MADD_uc001nex.2_Missense_Mutation_p.R518W	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	518	dDENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	Rab guanyl-nucleotide exchange factor activity|death receptor binding|protein kinase activator activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CCTCTTTCCTCGGCCTGTGGT	0.562													10	85					0	0	1	0	0	T	47304014	C	T	47304014	3	4	219	1	0	0	0	0	1	0	0	0	9152	875	31	2	1582	2	MADD	11	47304014	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	41011757	47304014	87702502	35	9320											
OR4P4	81300	broad.mit.edu	37	chr11	55406511	55406511	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtataccatcagagcataCtctgcagagagacgcagcaa	14	8	9	10	1	2	3	1	0	1	3	2	4	2	3	1	0	5	5	1	0	4	4			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr11:55406511C>A	uc010rij.2	+	0	678	c.678C>A	c.(676-678)taC>taA	p.Y226*		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TCAGAGCATACTCTGCAGAGA	0.388													6	62					3.59834e-05	3.74227e-05	1	1	0	A	55406511	C	A	55406511	4	1	219	1	0	0	0	0	0	1	0	0	11080	576	20	5	680	5	OR4P4	11	55406511	Nonsense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	8102497	55406511	79600005	36	9321											
OR5L1	219437	broad.mit.edu	37	chr11	55579059	55579059	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcatctatggagtcacgttGttagccaacctgggcatgat	9	12	10	10	1	3	1	2	1	1	0	3	2	3	2	2	2	2	3	2	2	3	3			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr11:55579059G>T	uc001nhw.1	+	0	117	c.117G>T	c.(115-117)ttG>ttT	p.L39F		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T38T(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GAGTCACGTTGTTAGCCAACC	0.507													33	209					4.74835e-14	5.07358e-14	1	1	0	T	55579059	G	T	55579059	3	4	219	1	0	0	0	0	1	0	0	0	11170	1368	48	5	119	5	OR5L1	11	55579059	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08	172548	55579059	79427457	37	9322											
DYNC2H1	79659	broad.mit.edu	37	chr11	102995846	102995846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagtattgaggctagtagtcGaattatggaattggattcta	12	15	11	3	1	1	1	0	1	1	0	2	4	1	3	0	3	0	3	0	3	8	9			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr11:102995846G>A	uc001phn.1	+	11	1823	c.1679G>A	c.(1678-1680)cGa>cAa	p.R560Q	DYNC2H1_uc009yxe.1_Missense_Mutation_p.R560Q|DYNC2H1_uc001pho.2_Missense_Mutation_p.R560Q	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	560	Stem (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GCTAGTAGTCGAATTATGGAA	0.333													7	14					0	0	1	0	0	A	102995846	G	A	102995846	3	1	219	1	0	0	0	0	1	0	0	0	4846	1058	37	2	1725	2	DYNC2H1	11	102995846	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08	47416787	102995846	32010670	38	9323											
NAV3	89795	broad.mit.edu	37	chr12	78401085	78401105	+	In_Frame_Del	DEL	CCAAGCTTCTCCTTCTGGTTC	CCAAGCTTCTCCTTCTGGTTC	-																															ttggaaggaagggaagctggCcaagcttctccttctggttc																										TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr12:78401085_78401105delCCAAGCTTCTCCTTCTGGTTC	uc001syp.3	+	7	1940_1960	c.1767_1787delCCAAGCTTCTCCTTCTGGTTC	c.(1765-1788)ggccaagcttctccttctggttcc>ggc	p.QASPSGS590del	NAV3_uc001syo.3_In_Frame_Del_p.QASPSGS590del	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	590						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.S596S(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GGGAAGCTGGCCAAGCTTCTCCTTCTGGTTCCTGTACCATG	0.534										HNSCC(70;0.22)			7	119	---	---	---	---						-	78401105	CCAAGCTTCTCCTTCTGGTTC	-	78401085	7	5	219	1	0	1	0	1	0	0	0	0	10185	726	26	0	1797	0	NAV3	12	78401085	In_Frame_Del	DEL	CCAAGCTTCTCCTTCTGGTTC	TCGA-HT-7882-01A-11D-2395-08		78401085	55450810	39	9324											
RASAL1	8437	broad.mit.edu	37	chr12	113539707	113539707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccacctgagctggtcccGccccaggagcagctgccgat	7	5	11	18	2	0	1	0	1	0	0	1	3	1	2	6	2	4	3	6	2	0	0			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr12:113539707G>A	uc001tun.2	-	19	2516	c.2215C>T	c.(2215-2217)Cgg>Tgg	p.R739W	RASAL1_uc010syp.2_Missense_Mutation_p.R738W|RASAL1_uc001tul.3_Missense_Mutation_p.R709W|RASAL1_uc001tum.2_Missense_Mutation_p.R737W	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	737					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						AGCTGGTCCCGCCCCAGGAGC	0.627													5	47					0	0	1	0	0	A	113539707	G	A	113539707	3	1	219	1	0	0	0	0	1	0	0	0	13063	1086	38	1	217	1	RASAL1	12	113539707	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08	35138622	113539707	20312188	40	9325											
BRF1	2972	broad.mit.edu	37	chr14	105688184	105688184	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgttcaggtggctggccgcGgcttccagctcctcgtcctc	2	12	12	15	3	1	0	1	0	0	0	6	0	4	0	4	4	1	4	4	4	0	3			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr14:105688184G>A	uc001yqp.2	-	10	1479	c.1116C>T	c.(1114-1116)gcC>gcT	p.A372A	BRF1_uc010tyo.1_Silent_p.A257A|BRF1_uc010typ.1_Silent_p.A257A|BRF1_uc001yqk.2_5'UTR|BRF1_uc001yql.2_Silent_p.A168A|BRF1_uc001yqo.2_Silent_p.A134A|BRF1_uc010axg.1_Silent_p.A345A|BRF1_uc001yqn.2_Intron|BRF1_uc010axh.1_Intron|BRF1_uc010axi.1_5'UTR	NM_001519	NP_663718	Q92994	TF3B_HUMAN	Homo sapiens BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae) (BRF1), transcript variant 1, mRNA.	372					positive regulation of transcription, DNA-dependent|rRNA transcription|tRNA transcription|transcription initiation from RNA polymerase III promoter	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GGCTGGCCGCGGCTTCCAGCT	0.637													4	21					0	0	1	0	0	A	105688184	G	A	105688184	2	1	219	1	0	0	0	0	0	0	0	1	1510	1103	39	2		2	BRF1	14	105688184	Silent	SNP	G	TCGA-HT-7882-01A-11D-2395-08		105688184	1661356	41	9326											
C15orf2	23742	broad.mit.edu	37	chr15	24921092	24921092	+	Silent	SNP	T	T	A																															ccagggcgtggcgcccccgcTcccctgtcccgggacgcctc																										TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr15:24921092T>A	uc001ywo.3	+	0	552	c.78T>A	c.(76-78)gcT>gcA	p.A26A		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	26					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GCGCCCCCGCTCCCCTGTCCC	0.701													5	19					0	0	1	0	0	A	24921092	T	A	24921092	2	1	219	1	0	0	0	0	0	0	0	1	1784	1538	54	5		5	C15orf2	15	24921092	Silent	SNP	T	TCGA-HT-7882-01A-11D-2395-08		24921092	77610300	42	9327	34	2									
C15orf2	23742	broad.mit.edu	37	chr15	24921093	24921093	+	Missense_Mutation	SNP	C	C	A																															cagggcgtggcgcccccgctCccctgtcccgggacgcctcc																										TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr15:24921093C>A	uc001ywo.3	+	0	553	c.79C>A	c.(79-81)Ccc>Acc	p.P27T		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	27					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CGCCCCCGCTCCCCTGTCCCG	0.701													6	18					0.0215528	0.0218327	1	1	0	A	24921093	C	A	24921093	3	1	219	1	0	0	0	0	1	0	0	0	1784	855	30	5	81	5	C15orf2	15	24921093	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	1	24921093	77610299	43	9328	34	2									
ATP10A	57194	broad.mit.edu	37	chr15	25959052	25959052	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgtaggctctggccgcatAcaccagtgcggcctcatccg	6	9	12	14	3	2	0	1	0	1	0	3	0	3	0	4	3	2	4	4	3	2	3			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr15:25959052A>G	uc010ayu.3	-	9	2219	c.2113T>C	c.(2113-2115)Tat>Cat	p.Y705H		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	705					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CTGGCCGCATACACCAGTGCG	0.662													21	86					0	0	1	0	0	G	25959052	A	G	25959052	3	3	219	1	0	0	0	0	1	0	0	0	1116	391	14	3	2434	3	ATP10A	15	25959052	Missense_Mutation	SNP	A	TCGA-HT-7882-01A-11D-2395-08	1037959	25959052	76572340	44	9329											
HS3ST6	64711	broad.mit.edu	37	chr16	1962006	1962006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggcggaaggccagggcgCggaagctgggcaggcccggg	6	2	22	11	5	0	0	0	0	0	0	0	2	0	2	2	8	1	2	2	8	2	0			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr16:1962006C>T	uc002cnf.3	-	1	521	c.521G>A	c.(520-522)cGc>cAc	p.R174H	TCRBV20S1_uc021tak.1_Intron	NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 6 (HS3ST6), mRNA.	174										endometrium(2)|lung(2)	4						GGCCAGGGCGCGGAAGCTGGG	0.716													9	42					0	0	1	0	0	T	1962006	C	T	1962006	3	4	219	1	0	0	0	0	1	0	0	0	7369	768	27	1	418	1	HS3ST6	16	1962006	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08		1962006	88392747	45	9330											
ZZEF1	23140	broad.mit.edu	37	chr17	3937518	3937518	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttcattcaggtggcctgcGtttgagatgacaacctgaaa	10	12	11	8	1	2	3	2	3	0	1	2	4	2	3	2	2	2	2	2	2	2	3	rs35511240	byFrequency	TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr17:3937518G>A	uc002fxe.3	-	39	6439	c.6375C>T	c.(6373-6375)aaC>aaT	p.N2125N	ZZEF1_uc002fxh.3_Silent_p.N439N|ZZEF1_uc002fxi.3_Silent_p.N360N|ZZEF1_uc002fxj.1_Silent_p.N738N	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	2125							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GGTGGCCTGCGTTTGAGATGA	0.527													6	72					0	0	1	0	0	A	3937518	G	A	3937518	2	1	219	1	0	0	0	0	0	0	0	1	18252	1136	40	1		1	ZZEF1	17	3937518	Silent	SNP	G	TCGA-HT-7882-01A-11D-2395-08		3937518	77257692	46	9331											
FBXW10	10517	broad.mit.edu	37	chr17	18675863	18675866	+	Frame_Shift_Del	DEL	TCTC	TCTC	-																															gaaaatagtctcatggaaatTctctctaagtgtaatattca																										TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr17:18675863_18675866delTCTC	uc002gul.3	+	10	2464_2467	c.2232_2235delTCTC	c.(2230-2235)attctcfs	p.I744fs	FBXW10_uc002guj.3_Frame_Shift_Del_p.I715fs|FBXW10_uc002guk.3_Frame_Shift_Del_p.I715fs|FBXW10_uc010cqh.2_Frame_Shift_Del_p.I662fs	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	715										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCATGGAAATTCTCTCTAAGTGTA	0.417													28	170	---	---	---	---						-	18675866	TCTC	-	18675863	7	5	219	1	0	1	0	1	0	0	0	0	5763	1771	62	0	2191	0	FBXW10	17	18675863	Frame_Shift_Del	DEL	TCTC	TCGA-HT-7882-01A-11D-2395-08	14738345	18675863	62519347	47	9332											
LPO	4025	broad.mit.edu	37	chr17	56343663	56343663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggctgccatcaacacacagCgttgccgggaccatgggcaa	10	6	12	13	2	1	0	1	0	0	0	1	1	1	1	3	3	4	3	3	3	2	1			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr17:56343663C>T	uc002ivt.3	+	10	1985	c.1669C>T	c.(1669-1671)Cgt>Tgt	p.R557C	LPO_uc010wns.2_Missense_Mutation_p.R498C|LPO_uc010dcp.3_Missense_Mutation_p.R474C|LPO_uc010dcq.3_Missense_Mutation_p.R228C|LPO_uc010dcr.3_Missense_Mutation_p.R120C	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	557					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CAACACACAGCGTTGCCGGGA	0.502													7	53					0	0	1	0	0	T	56343663	C	T	56343663	3	4	219	1	0	0	0	0	1	0	0	0	8922	768	27	1	1707	1	LPO	17	56343663	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	37667800	56343663	24851547	48	9333											
EVPL	2125	broad.mit.edu	37	chr17	74003773	74003775	+	In_Frame_Del	DEL	TTG	TTG	-																															cggccgtcttgatgctgcacTtgttgtctgtggttgtgtca																										TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr17:74003773_74003775delTTG	uc010wss.1	-	21	5805_5807	c.5577_5579delCAA	c.(5575-5580)aacaag>aag	p.N1859del	EVPL_uc002jqi.2_In_Frame_Del_p.N1837del|EVPL_uc010wst.1_In_Frame_Del_p.N1307del	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1837	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GATGCTGCACTTGTTGTCTGTGG	0.611													29	215	---	---	---	---						-	74003775	TTG	-	74003773	7	5	219	1	0	1	0	1	0	0	0	0	5292	1609	56	0	592	0	EVPL	17	74003773	In_Frame_Del	DEL	TTG	TCGA-HT-7882-01A-11D-2395-08	17660110	74003773	7191437	49	9334											
DSC3	1825	broad.mit.edu	37	chr18	28581601	28581601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taccactctatcgtctccagGtgcttctgtgtttgatataa	8	16	7	10	1	3	1	0	1	3	0	5	1	3	1	2	1	2	2	2	1	4	6	rs114935867	byFrequency	TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr18:28581601G>A	uc002kwj.4	-	13	2373	c.2218C>T	c.(2218-2220)Cct>Tct	p.P740S	DSC3_uc002kwi.4_Missense_Mutation_p.P740S	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	740					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TCGTCTCCAGGTGCTTCTGTG	0.308													5	65					0	0	1	0	0	A	28581601	G	A	28581601	3	1	219	1	0	0	0	0	1	0	0	0	4767	1261	44	3	515	3	DSC3	18	28581601	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08		28581601	49495647	50	9335											
MAP1S	55201	broad.mit.edu	37	chr19	17845112	17845112	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccccactttcgactcggtgGccatgcatacgtggtacgca	7	10	10	14	4	0	0	0	0	0	0	3	1	1	0	3	3	3	3	3	3	2	3	rs71762031		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr19:17845112G>C	uc002nhe.1	+	6	3064	c.3055G>C	c.(3055-3057)Gcc>Ccc	p.A1019P	MAP1S_uc010xpv.1_Missense_Mutation_p.A993P	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA.	1019	Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	DNA binding|actin filament binding|beta-tubulin binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CGACTCGGTGGCCATGCATAC	0.657													6	56					0	0	1	0	0	C	17845112	G	C	17845112	3	2	219	1	0	0	0	0	1	0	0	0	9234	1203	42	5	3081	5	MAP1S	19	17845112	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08		17845112	41283871	51	9336											
ZNF536	9745	broad.mit.edu	37	chr19	31040081	31040081	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaagaggatgttgaaacCgaaccggaaatgatgaccaa	17	6	12	6	2	0	5	0	4	0	1	0	9	0	7	3	2	2	1	3	2	5	1			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr19:31040081C>T	uc002nsu.1	+	3	3693	c.3555C>T	c.(3553-3555)acC>acT	p.T1185T	ZNF536_uc010edd.1_Silent_p.T1185T	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ATGTTGAAACCGAACCGGAAA	0.572													8	70					0	0	1	0	0	T	31040081	C	T	31040081	2	4	219	1	0	0	0	0	0	0	0	1	17971	639	23	2		2	ZNF536	19	31040081	Silent	SNP	C	TCGA-HT-7882-01A-11D-2395-08	13194969	31040081	28088902	52	9337											
LILRB2	10288	broad.mit.edu	37	chr19	54783825	54783825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttttctccctatatagaCggtactcctgggcttcaagg	8	15	8	10	1	2	1	1	0	1	1	4	1	3	1	2	3	1	2	2	3	5	8	rs141797988		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr19:54783825C>T	uc002qfb.3	-	3	442	c.176G>A	c.(175-177)cGt>cAt	p.R59H	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.R59H|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.R59H|LILRB2_uc010yet.2_Intron|LILRB2_uc010yeu.1_Non-coding_Transcript|MIR4752_uc021vbj.1_5'Flank	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	59	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCTATATAGACGGTACTCCTG	0.547													24	178					0	0	1	0	0	T	54783825	C	T	54783825	3	4	219	1	0	0	0	0	1	0	0	0	8791	536	19	1	1664	1	LILRB2	19	54783825	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	23743744	54783825	4345158	53	9338											
LILRB3	11025	broad.mit.edu	37	chr19	54803127	54803127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgggctcacggggcccaCggagaagatggcccgggatg	8	5	17	11	3	1	2	1	0	0	2	1	4	1	3	2	6	0	1	2	6	1	1			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr19:54803127C>T	uc002qfd.3	-	3	642	c.550G>A	c.(550-552)Gtg>Atg	p.V184M	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Intron	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	183	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	p.V184M(1)		endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACGGGGCCCACGGAGAAGATG	0.567													23	177					0	0	1	0	0	T	54803127	C	T	54803127	3	4	219	1	0	0	0	0	1	0	0	0	8792	536	19	1		1	LILRB3	19	54803127	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	19302	54803127	4325856	54	9339											
XKR7	343702	broad.mit.edu	37	chr20	30584347	30584347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgtgtctctggcctggaCgctggcctcctaccagaagg	5	9	12	15	2	1	1	0	0	1	1	4	2	2	2	5	4	1	1	5	4	2	1			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr20:30584347C>T	uc002wxe.3	+	2	1001	c.827C>T	c.(826-828)aCg>aTg	p.T276M		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA.	276						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTGGCCTGGACGCTGGCCTCC	0.701													6	35					0	0	1	0	0	T	30584347	C	T	30584347	3	4	219	1	0	0	0	0	1	0	0	0	17433	536	19	1	837	1	XKR7	20	30584347	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08		30584347	32441173	55	9340											
HCK	3055	broad.mit.edu	37	chr20	30667667	30667667	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttcatgatccgggatagCgagaccactaaaggtgacac	12	8	10	11	2	1	3	1	2	0	1	3	5	3	4	3	2	1	0	3	2	3	3			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr20:30667667C>T	uc002wxh.3	+	5	756	c.519C>T	c.(517-519)agC>agT	p.S173S	HCK_uc010gdy.3_Silent_p.S153S|HCK_uc021wbv.1_Silent_p.S152S|HCK_uc002wxi.3_Silent_p.S151S	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	173	SH2.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCCGGGATAGCGAGACCACTA	0.612													4	25					0	0	1	0	0	T	30667667	C	T	30667667	2	4	219	1	0	0	0	0	0	0	0	1	6994	767	27	1		1	HCK	20	30667667	Silent	SNP	C	TCGA-HT-7882-01A-11D-2395-08	83320	30667667	32357853	56	9341											
AKAP4	8852	broad.mit.edu	37	chrX	49958224	49958224	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcaagaatcaatcaaatcGgacacaatctccttggtgtg	14	10	8	9	1	3	1	2	0	1	1	5	2	3	2	1	2	1	1	1	2	5	1	rs140947270		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chrX:49958224G>A	uc004dow.1	-	4	1264	c.1140C>T	c.(1138-1140)tcC>tcT	p.S380S	AKAP4_uc004dou.1_Silent_p.S371S|AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Silent_p.S202S	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	380					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	p.S380S(4)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CAATCAAATCGGACACAATCT	0.463													7	20					0	0	1	0	0	A	49958224	G	A	49958224	2	1	219	1	0	0	0	0	0	0	0	1	453	1103	39	2		2	AKAP4	23	49958224	Silent	SNP	G	TCGA-HT-7882-01A-11D-2395-08		49958224	105312336	57	9342											
PCDH11X	27328	broad.mit.edu	37	chrX	91133911	91133911	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttgtcactattgaagaaaCtaaggcagatgatgttgaca	14	13	9	5	0	1	5	1	3	0	2	1	5	1	5	0	1	1	2	0	1	4	6			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chrX:91133911C>A	uc004efk.2	+	1	3517	c.2672C>A	c.(2671-2673)aCt>aAt	p.T891N	PCDH11X_uc004efl.2_Missense_Mutation_p.T891N|PCDH11X_uc010nmv.2_Missense_Mutation_p.T891N|PCDH11X_uc004efm.2_Missense_Mutation_p.T891N|PCDH11X_uc004efn.2_Missense_Mutation_p.T891N|PCDH11X_uc004efo.2_Missense_Mutation_p.T891N|PCDH11X_uc004efh.2_Missense_Mutation_p.T891N|PCDH11X_uc004efj.1_Missense_Mutation_p.T891N	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	891					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.E890*(1)|p.E890E(1)		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						ATTGAAGAAACTAAGGCAGAT	0.373													15	44					4.29497e-23	4.65288e-23	1	1	0	A	91133911	C	A	91133911	3	1	219	1	0	0	0	0	1	0	0	0	11508	565	20	5	2678	5	PCDH11X	23	91133911	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	41175687	91133911	64136649	58	9343											
AHDC1	27245	broad.mit.edu	37	chr1	27875777	27875777	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgggccatggctgagggCgggggcaccagcttggggaa	7	4	21	9	2	0	1	0	1	0	0	0	3	0	2	2	7	2	3	2	7	1	1	rs151218177		TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr1:27875777C>T	uc021ojw.1	-	0	2850	c.2850G>A	c.(2848-2850)ccG>ccA	p.P950P	AHDC1_uc009vsy.3_Silent_p.P950P|AHDC1_uc009vsz.1_Silent_p.P950P	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	950							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TGGCTGAGGGCGGGGGCACCA	0.672													55	61					0	0	1	0	0	T	27875777	C	T	27875777	2	4	220	1	0	0	0	0	0	0	0	1	412	755	27	1		1	AHDC1	1	27875777	Silent	SNP	C	TCGA-HT-7884-01B-11D-2395-08		27875777	221374844	1	9344											
YIPF1	54432	broad.mit.edu	37	chr1	54331952	54331952	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacgcgtcggttatcctcaCgaacagctggccaaaatgtc	11	8	9	13	4	1	0	1	0	0	0	4	1	2	0	2	2	3	2	2	2	5	1			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr1:54331952C>G	uc001cvu.3	-	8	1123	c.752G>C	c.(751-753)cGt>cCt	p.R251P	YIPF1_uc001cvv.3_Non-coding_Transcript|YIPF1_uc001cvx.3_Non-coding_Transcript|YIPF1_uc001cvy.3_Non-coding_Transcript	NM_018982	NP_061855	Q9Y548	YIPF1_HUMAN	Homo sapiens Yip1 domain family, member 1 (YIPF1), transcript variant 1, mRNA.	251						integral to membrane|transport vesicle		p.R251H(2)		endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						GTTATCCTCACGAACAGCTGG	0.483													44	64					0	0	1	0	0	G	54331952	C	G	54331952	3	3	220	1	0	0	0	0	1	0	0	0	17474	536	19	5	176	5	YIPF1	1	54331952	Missense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08	26456175	54331952	194918669	2	9345											
REG1A	5967	broad.mit.edu	37	chr2	79348733	79348733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcccggatcagctgccCagaaggcaccaatgcctatc	10	5	10	16	1	1	1	1	0	0	1	2	2	1	2	5	3	3	2	5	3	3	1			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr2:79348733C>T	uc010ysd.2	+	1	177	c.110C>T	c.(109-111)cCa>cTa	p.P37L	REG1A_uc010ffx.1_Missense_Mutation_p.P37L|REG1A_uc002snz.3_Missense_Mutation_p.P37L	NM_002909	NP_002900	P05451	REG1A_HUMAN	Homo sapiens regenerating islet-derived 1 alpha (REG1A), mRNA.	37	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	p.C36R(1)|p.P37A(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						ATCAGCTGCCCAGAAGGCACC	0.527													62	272					0	0	1	0	0	T	79348733	C	T	79348733	3	4	220	1	0	0	0	0	1	0	0	0	13210	594	21	3	116	3	REG1A	2	79348733	Missense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08		79348733	163850640	3	9346											
SCN2A	6326	broad.mit.edu	37	chr2	166179921	166179921	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcctgcccatgaatgggAagatgcatagcgctgtggac	10	8	12	11	1	0	2	0	1	0	1	1	4	1	4	3	2	3	2	3	2	3	1			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr2:166179921A>G	uc002udc.3	+	11	2217	c.1927A>G	c.(1927-1929)Aag>Gag	p.K643E	SCN2A_uc002udd.3_Missense_Mutation_p.K643E|SCN2A_uc002ude.3_Missense_Mutation_p.K643E	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	643					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.G642R(1)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CATGAATGGGAAGATGCATAG	0.617													6	46					0	0	1	0	0	G	166179921	A	G	166179921	3	3	220	1	0	0	0	0	1	0	0	0	13916	247	9	3	2065	3	SCN2A	2	166179921	Missense_Mutation	SNP	A	TCGA-HT-7884-01B-11D-2395-08	86831188	166179921	77019452	4	9347											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								45	58					0	0	1	0	0	T	209113112	C	T	209113112	3	4	220	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08	42933191	209113112	34086261	5	9348											
STXBP5L	9515	broad.mit.edu	37	chr3	120628568	120628569	+	In_Frame_Ins	INS	-	-	CGC																															actgcaggggttctcagagaINSggaaattcaggaaactttga																										TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr3:120628568_120628569insCGC	uc003eec.4	+	1	283_284	c.143_144insCGC	c.(142-144)gag>gaCGCg	p.48_48E>DA	STXBP5L_uc011bji.2_In_Frame_Ins_p.48_48E>DA	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	48					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GTTCTCAGAGAGGAAATTCAGG	0.48													17	30	---	---	---	---						CGC	120628569	-	CGC	120628568	7	5	220	1	0	1	1	0	0	0	0	0	15356	304	11	0	145	0	STXBP5L	3	120628568	In_Frame_Ins	INS	-	TCGA-HT-7884-01B-11D-2395-08		120628568	77393862	6	9349											
PLCH1	23007	broad.mit.edu	37	chr3	155215187	155215187	+	Frame_Shift_Del	DEL	T	T	-																															ttctcggcagagcttcatggTtttccttcggcgacccaatc																										TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr3:155215187delT	uc021xge.1	-	13	2057	c.1780delA	c.(1780-1782)accfs	p.T594fs	PLCH1_uc021xgd.1_Frame_Shift_Del_p.T594fs|PLCH1_uc021xgf.1_Frame_Shift_Del_p.T576fs	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	594					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGCTTCATGGTTTTCCTTCGG	0.468													56	82	---	---	---	---						-	155215187	T	-	155215187	7	5	220	1	0	1	0	1	0	0	0	0	12037	1725	60	0	3356	0	PLCH1	3	155215187	Frame_Shift_Del	DEL	T	TCGA-HT-7884-01B-11D-2395-08	34586619	155215187	42807243	7	9350											
PDHA2	5161	broad.mit.edu	37	chr4	96761529	96761529	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgcatggaattgaaggcAgatcagctgtacaaacagaa	15	6	11	9	2	1	3	1	1	0	2	1	4	1	4	1	2	3	4	1	2	5	2			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr4:96761529A>G	uc003htr.4	+	0	291	c.228A>G	c.(226-228)gcA>gcG	p.A76A		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	76					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			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)	AATTGAAGGCAGATCAGCTGT	0.537													6	133					0	0	1	0	0	G	96761529	A	G	96761529	2	3	220	1	0	0	0	0	0	0	0	1	11665	175	7	4		4	PDHA2	4	96761529	Silent	SNP	A	TCGA-HT-7884-01B-11D-2395-08		96761529	94392747	8	9351											
NEUROG2	63973	broad.mit.edu	37	chr4	113436146	113436146	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcagggtctcggtgagtgcCcagatgtagttgtgggcgaa	7	9	17	8	3	1	2	0	1	1	1	2	3	1	2	1	3	1	3	1	3	2	2			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr4:113436146C>T	uc003ias.3	-	1	813	c.486G>A	c.(484-486)tgG>tgA	p.W162*	NEUROG2_uc021xqu.1_Nonsense_Mutation_p.W162*	NM_024019	NP_076924	Q9H2A3	NGN2_HUMAN	Homo sapiens neurogenin 2 (NEUROG2), mRNA.	162	Helix-loop-helix motif.				positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		CGGTGAGTGCCCAGATGTAGT	0.711													9	37					0	0	1	0	0	T	113436146	C	T	113436146	4	4	220	1	0	0	0	0	0	1	0	0	10353	624	22	3	336	3	NEUROG2	4	113436146	Nonsense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08	16674617	113436146	77718130	9	9352											
PCDHB16	57717	broad.mit.edu	37	chr5	140563635	140563635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacccgcacctgcccctcGcctccctggtctccatcaac	6	7	7	21	2	2	0	1	0	1	0	5	1	3	1	7	2	2	1	7	2	1	0			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr5:140563635G>A	uc003liv.3	+	0	2656	c.1501G>A	c.(1501-1503)Gcc>Acc	p.A501T		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	501	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGCCCCTCGCCTCCCTGGT	0.677													9	139					0	0	1	0	0	A	140563635	G	A	140563635	3	1	220	1	0	0	0	0	1	0	0	0	11541	1087	38	1	1503	1	PCDHB16	5	140563635	Missense_Mutation	SNP	G	TCGA-HT-7884-01B-11D-2395-08		140563635	40351625	10	9353											
SPINK5	11005	broad.mit.edu	37	chr5	147484546	147484546	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagagcaagagcaaaggctAaaagagaagctgcaaaggta	21	3	12	5	0	0	3	0	0	0	3	0	4	0	3	0	2	4	6	0	2	8	2			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr5:147484546A>G	uc003lox.2	+	15	1535	c.1462A>G	c.(1462-1464)Aaa>Gaa	p.K488E	SPINK5_uc010jgs.1_Missense_Mutation_p.K460E|SPINK5_uc010jgr.2_Missense_Mutation_p.K469E|SPINK5_uc003low.2_Missense_Mutation_p.K488E|SPINK5_uc003loy.2_Missense_Mutation_p.K488E	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	488	Kazal-like 7.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAAAGGCTAAAAGAGAAGC	0.328													4	28					0	0	1	0	0	G	147484546	A	G	147484546	3	3	220	1	0	0	0	0	1	0	0	0	15061	363	13	3	1524	3	SPINK5	5	147484546	Missense_Mutation	SNP	A	TCGA-HT-7884-01B-11D-2395-08	6920911	147484546	33430714	11	9354											
HLA-DOA	3111	broad.mit.edu	37	chr6	32975791	32975791	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagagggagggccggtaccGttgatggctctgctgcggtt	5	9	18	9	3	1	2	0	1	1	1	1	3	1	3	2	5	3	6	2	5	1	3	rs138032675		TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr6:32975791G>A	uc003ocr.3	-	2	407	c.331_splice	c.e2+1	p.V111_splice	HLA-DOA_uc010juj.3_Splice_Site_p.V81_splice|HLA-DOA_uc010jui.3_Splice_Site_p.V111_splice	NM_002119	NP_002110	P06340	DOA_HUMAN	Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.	111	Alpha-2.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	MHC class II protein complex|endosome membrane|integral to membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GGCCGGTACCGTTGATGGCTC	0.657													5	62					0	0	1	0	0	A	32975791	G	A	32975791	5	1	220	1	0	0	0	0	0	0	1	0	7200	1159	40	1	438	1	HLA-DOA	6	32975791	Splice_Site	SNP	G	TCGA-HT-7884-01B-11D-2395-08		32975791	138139276	12	9355											
RUNX2	860	broad.mit.edu	37	chr6	45390466	45390466	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagcagcagcagcagcaAcagcagcagcagcagcagga	15	0	13	13	0	0	0	0	0	0	0	0	1	0	1	0	1	12	11	0	1	1	0			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr6:45390466A>G	uc011dvx.2	+	2	405	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_uc011dvy.2_Silent_p.Q65Q|RUNX2_uc003oxt.3_Silent_p.Q51Q	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	65	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													4	31					0	0	1	0	0	G	45390466	A	G	45390466	2	3	220	1	0	0	0	0	0	0	0	1	13748	40	2	3		3	RUNX2	6	45390466	Silent	SNP	A	TCGA-HT-7884-01B-11D-2395-08	12414675	45390466	125724601	13	9356											
SYNE1	23345	broad.mit.edu	37	chr6	152697565	152697565	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttatattttgaggtataTcaaaacacttggcggtagtg	12	14	9	6	1	1	1	1	1	0	0	1	1	1	1	0	3	1	2	0	3	7	8			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr6:152697565T>C	uc021zhb.1	-	55	9498	c.9275A>G	c.(9274-9276)gAt>gGt	p.D3092G	SYNE1_uc003qot.4_Missense_Mutation_p.D3099G|SYNE1_uc003qou.4_Missense_Mutation_p.D3092G|SYNE1_uc010kja.2_5'UTR|SYNE1_uc003qov.3_Missense_Mutation_p.D170G|SYNE1_uc010kjb.1_3'UTR	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	3092					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		TTGAGGTATATCAAAACACTT	0.358										HNSCC(10;0.0054)			43	44					0	0	1	0	0	C	152697565	T	C	152697565	3	2	220	1	0	0	0	0	1	0	0	0	15442	1435	50	3	17547	3	SYNE1	6	152697565	Missense_Mutation	SNP	T	TCGA-HT-7884-01B-11D-2395-08	107307099	152697565	18417502	14	9357											
ITGB8	3696	broad.mit.edu	37	chr7	20441726	20441726	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatgacttttcttgtccatAtcaccatggaaatctgtgtg	9	15	9	8	0	3	1	1	1	2	0	4	3	4	3	2	2	0	0	2	2	2	4			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr7:20441726A>G	uc003suu.3	+	9	2369	c.1664A>G	c.(1663-1665)tAt>tGt	p.Y555C	ITGB8_uc011jyh.2_Missense_Mutation_p.Y420C	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	555	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TCTTGTCCATATCACCATGGA	0.363													9	131					0	0	1	0	0	G	20441726	A	G	20441726	3	3	220	1	0	0	0	0	1	0	0	0	7901	449	16	3	1702	3	ITGB8	7	20441726	Missense_Mutation	SNP	A	TCGA-HT-7884-01B-11D-2395-08		20441726	138696937	15	9358											
AVL9	23080	broad.mit.edu	37	chr7	32599062	32599062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcagtatggcatgcccctgGccatcttcacaaaggtaaag	12	9	9	11	0	3	0	2	0	1	0	3	0	3	0	3	3	1	3	3	3	4	3			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr7:32599062G>A	uc003tcv.1	+	9	1347	c.1201G>A	c.(1201-1203)Gcc>Acc	p.A401T	AVL9_uc011kai.2_Missense_Mutation_p.A401T|AVL9_uc010kwj.1_Missense_Mutation_p.A242T	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN	Homo sapiens AVL9 homolog (S. cerevisiase) (AVL9), mRNA.	401						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CATGCCCCTGGCCATCTTCAC	0.388													28	40					0	0	1	0	0	A	32599062	G	A	32599062	3	1	220	1	0	0	0	0	1	0	0	0	1228	1203	42	3	1239	3	AVL9	7	32599062	Missense_Mutation	SNP	G	TCGA-HT-7884-01B-11D-2395-08	12157336	32599062	126539601	16	9359											
IMMP2L	83943	broad.mit.edu	37	chr7	110303732	110303732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttctgccagcgctctggggGccacaggatatgtgtggcat	6	11	14	10	1	2	0	0	0	2	0	2	1	2	1	2	4	2	2	2	4	1	2			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr7:110303732G>A	uc003vfq.2	-	5	897	c.454C>T	c.(454-456)Ccc>Tcc	p.P152S	IMMP2L_uc010ljr.2_Missense_Mutation_p.P152S	NM_032549	NP_115938	Q96T52	IMP2L_HUMAN	Homo sapiens IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) (IMMP2L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	152					protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity	p.W151L(1)		endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		CGCTCTGGGGGCCACAGGATA	0.448													5	93					0	0	1	0	0	A	110303732	G	A	110303732	3	1	220	1	0	0	0	0	1	0	0	0	7717	1203	42	3	77	3	IMMP2L	7	110303732	Missense_Mutation	SNP	G	TCGA-HT-7884-01B-11D-2395-08	77704670	110303732	48834931	17	9360											
PCM1	5108	broad.mit.edu	37	chr8	17794714	17794714	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagtttggtgtagaaagTgataaaagagtaaccaatga	20	9	10	2	0	0	4	0	2	0	2	0	4	0	4	1	1	1	3	1	1	8	4			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr8:17794714T>C	uc022asj.1	+	1	190	c.168T>C	c.(166-168)agT>agC	p.S56S	PCM1_uc003wyi.4_Silent_p.S56S|PCM1_uc011kyh.2_Silent_p.S56S|PCM1_uc003wyj.4_Silent_p.S56S|PCM1_uc003wyg.2_Silent_p.S56S|PCM1_uc003wyh.3_Silent_p.S56S|PCM1_uc010lta.1_Silent_p.S56S	NM_006197	NP_006188	Q15154	PCM1_HUMAN	Homo sapiens pericentriolar material 1 (PCM1), mRNA.	56					G2/M transition of mitotic cell cycle|centrosome organization|cilium assembly|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GTGTAGAAAGTGATAAAAGAG	0.373			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								4	15					0	0	1	0	0	C	17794714	T	C	17794714	2	2	220	1	0	0	0	0	0	0	0	1	11584	1693	59	3		3	PCM1	8	17794714	Silent	SNP	T	TCGA-HT-7884-01B-11D-2395-08		17794714	128569308	18	9361											
OR4C16	219428	broad.mit.edu	37	chr11	55339961	55339961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcctcacggctgttgacCgctatgtggacatctgtaag	8	12	10	11	2	3	1	2	1	1	0	4	2	4	2	2	2	0	4	2	2	2	3			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr11:55339961C>T	uc010rih.2	+	0	358	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				GGCTGTTGACCGCTATGTGGA	0.517													105	135					0	0	1	0	0	T	55339961	C	T	55339961	3	4	220	1	0	0	0	0	1	0	0	0	11049	652	23	2	360	2	OR4C16	11	55339961	Missense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08		55339961	79666555	19	9362											
OR4D6	219983	broad.mit.edu	37	chr11	59224594	59224594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactattacctgtgagtcccGcctacacactcctatgtact	9	12	5	15	1	0	1	0	1	0	0	2	1	2	1	4	0	3	1	4	0	5	5			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr11:59224594G>A	uc010rku.2	+	0	161	c.161G>A	c.(160-162)cGc>cAc	p.R54H		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R54H(2)|p.R54S(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TGTGAGTCCCGCCTACACACT	0.458													7	112					0	0	1	0	0	A	59224594	G	A	59224594	3	1	220	1	0	0	0	0	1	0	0	0	11058	1087	38	1	163	1	OR4D6	11	59224594	Missense_Mutation	SNP	G	TCGA-HT-7884-01B-11D-2395-08	3884633	59224594	75781922	20	9363											
ZNF259	8882	broad.mit.edu	37	chr11	116657243	116657243	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacccttcgtgcaggctggTcctgctccaggccagagata	7	10	11	13	1	0	1	0	0	0	1	3	2	2	1	4	3	3	3	4	3	2	3			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr11:116657243T>C	uc001ppp.3	-	3	512	c.479A>G	c.(478-480)gAc>gGc	p.D160G		NM_003904	NP_003895	O75312	ZPR1_HUMAN	Homo sapiens zinc finger protein 259 (ZNF259), mRNA.	160					cell proliferation|signal transduction	cytoplasm|nucleolus				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		TGCAGGCTGGTCCTGCTCCAG	0.478													20	50					0	0	1	0	0	C	116657243	T	C	116657243	3	2	220	1	0	0	0	0	1	0	0	0	17798	1667	58	3	944	3	ZNF259	11	116657243	Missense_Mutation	SNP	T	TCGA-HT-7884-01B-11D-2395-08	57432649	116657243	18349273	21	9364											
FKBP4	2288	broad.mit.edu	37	chr12	2910516	2910516	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagaggctggctgaggaggaGaacaaggtgaggattggggt	11	6	21	3	0	0	4	0	2	0	2	0	8	0	6	0	8	1	2	0	8	2	1			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr12:2910516G>A	uc001qkz.3	+	8	1464	c.1266G>A	c.(1264-1266)gaG>gaA	p.E422E		NM_002014	NP_002005	Q02790	FKBP4_HUMAN	Homo sapiens FK506 binding protein 4, 59kDa (FKBP4), mRNA.	422					negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	CTGAGGAGGAGAACAAGGTGA	0.557													33	190					0	0	1	0	0	A	2910516	G	A	2910516	2	1	220	1	0	0	0	0	0	0	0	1	5910	933	33	3		3	FKBP4	12	2910516	Silent	SNP	G	TCGA-HT-7884-01B-11D-2395-08		2910516	130941379	22	9365											
MAPKAPK5	8550	broad.mit.edu	37	chr12	112327906	112327906	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggaagtataaccgggaaTgcaaactcctaagagatact	15	9	9	8	1	0	1	0	0	0	1	1	4	1	3	2	2	4	2	2	2	7	5			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr12:112327906T>G	uc001tta.3	+	12	1544	c.1285T>G	c.(1285-1287)Tgc>Ggc	p.C429G	MAPKAPK5_uc001tsz.3_Missense_Mutation_p.C427G	NM_139078	NP_620777	Q8IW41	MAPK5_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 5 (MAPKAPK5), transcript variant 2, mRNA.	429					signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			endometrium(1)|lung(11)|ovary(1)	13						TAACCGGGAATGCAAACTCCT	0.428													4	6					0	0	1	0	0	G	112327906	T	G	112327906	3	3	220	1	0	0	0	0	1	0	0	0	9291	1464	51	5	1335	5	MAPKAPK5	12	112327906	Missense_Mutation	SNP	T	TCGA-HT-7884-01B-11D-2395-08	109417390	112327906	21523989	23	9366											
PXMP2	5827	broad.mit.edu	37	chr12	133277886	133277886	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgagggggggcttctggccGgcgctgaggatgaactggcg	6	7	20	8	3	1	3	0	3	1	0	1	4	1	4	1	7	1	2	1	7	1	1	rs139134478	byFrequency	TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr12:133277886G>A	uc001ukt.3	+	3	515	c.450G>A	c.(448-450)ccG>ccA	p.P150P	PGAM5_uc010tbr.2_Non-coding_Transcript	NM_018663	NP_061133	Q9NR77	PXMP2_HUMAN	Homo sapiens peroxisomal membrane protein 2, 22kDa (PXMP2), mRNA.	150						integral to membrane|peroxisomal membrane	protein binding			large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		GCTTCTGGCCGGCGCTGAGGA	0.612													6	115					0	0	1	0	0	A	133277886	G	A	133277886	2	1	220	1	0	0	0	0	0	0	0	1	12850	1103	39	2		2	PXMP2	12	133277886	Silent	SNP	G	TCGA-HT-7884-01B-11D-2395-08	20949980	133277886	574009	24	9367											
SLC39A9	55334	broad.mit.edu	37	chr14	69908908	69908908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctgcatgcctatattggtGtttccctcgttctgggcttc	4	16	10	11	1	1	0	0	0	1	0	4	0	2	0	2	2	3	5	2	2	2	6			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr14:69908908G>A	uc001xle.3	+	2	1030	c.328G>A	c.(328-330)Gtt>Att	p.V110I	SLC39A9_uc021rvg.1_5'UTR|SLC39A9_uc021rvh.1_5'UTR|SLC39A9_uc001xlf.4_Missense_Mutation_p.V110I|SLC39A9_uc010aqx.3_Missense_Mutation_p.V110I|SLC39A9_uc001xlg.4_Non-coding_Transcript	NM_018375	NP_060845	Q9NUM3	S39A9_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 9 (SLC39A9), transcript variant 1, mRNA.	110					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		CTATATTGGTGTTTCCCTCGT	0.483													31	193					0	0	1	0	0	A	69908908	G	A	69908908	3	1	220	1	0	0	0	0	1	0	0	0	14625	1377	48	3	338	3	SLC39A9	14	69908908	Missense_Mutation	SNP	G	TCGA-HT-7884-01B-11D-2395-08		69908908	37440632	25	9368											
LTK	4058	broad.mit.edu	37	chr15	41796600	41796600	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagggcggagctcaggctcGtgctgccaacactgggtcat	7	8	14	12	2	2	0	2	0	0	0	3	1	2	1	1	4	4	3	1	4	2	1			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr15:41796600G>A	uc001zoa.3	-	18	2464	c.2286C>T	c.(2284-2286)caC>caT	p.H762H	LTK_uc001zob.3_Silent_p.H701H|LTK_uc010ucx.1_Silent_p.H632H|LTK_uc010bcg.2_Silent_p.H460H	NM_002344	NP_002335	P29376	LTK_HUMAN	Homo sapiens leukocyte receptor tyrosine kinase (LTK), transcript variant 1, mRNA.	762	Protein kinase.				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GCTCAGGCTCGTGCTGCCAAC	0.592										TSP Lung(18;0.14)			6	67					0	0	1	0	0	A	41796600	G	A	41796600	2	1	220	1	0	0	0	0	0	0	0	1	9080	1136	40	1		1	LTK	15	41796600	Silent	SNP	G	TCGA-HT-7884-01B-11D-2395-08		41796600	60734792	26	9369											
SRRM2	23524	broad.mit.edu	37	chr16	2816330	2816330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaccagtaacccgccgtcGttcaaggtctagaacgccaa	11	6	9	15	4	2	1	1	0	1	1	3	1	2	1	5	1	2	2	5	1	5	3			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr16:2816330G>A	uc002crk.3	+	10	6350	c.5801G>A	c.(5800-5802)cGt>cAt	p.R1934H	SRRM2_uc002crj.1_Missense_Mutation_p.R1838H|SRRM2_uc002crl.1_Missense_Mutation_p.R1934H|SRRM2_uc010bsu.1_Missense_Mutation_p.R1838H	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1934	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ACCCGCCGTCGTTCAAGGTCT	0.582													57	71					0	0	1	0	0	A	2816330	G	A	2816330	3	1	220	1	0	0	0	0	1	0	0	0	15168	1145	40	1	5839	1	SRRM2	16	2816330	Missense_Mutation	SNP	G	TCGA-HT-7884-01B-11D-2395-08		2816330	87538423	27	9370											
ZNF319	57567	broad.mit.edu	37	chr16	58030901	58030901	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttgaagggccgctcggcCgcgccgggcaggcacttgtg	5	6	16	14	5	0	1	0	1	0	0	1	1	0	1	3	4	0	3	3	4	1	2			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr16:58030901C>T	uc002emx.1	-	1	1892	c.1269G>A	c.(1267-1269)gcG>gcA	p.A423A	ZNF319_uc021tjd.1_Silent_p.A423A	NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	Homo sapiens zinc finger protein 319 (ZNF319), mRNA.	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GCCGCTCGGCCGCGCCGGGCA	0.657													14	40					0	0	1	0	0	T	58030901	C	T	58030901	2	4	220	1	0	0	0	0	0	0	0	1	17834	639	23	2		2	ZNF319	16	58030901	Silent	SNP	C	TCGA-HT-7884-01B-11D-2395-08	55214571	58030901	32323852	28	9371											
RTN4RL1	146760	broad.mit.edu	37	chr17	1840572	1840572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagactccacagcttgttgcCgtggagaaacaggtggctga	10	8	13	10	1	0	3	0	1	0	2	1	4	1	3	2	3	3	3	2	3	1	2			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr17:1840572C>T	uc002ftp.3	-	1	563	c.544G>A	c.(544-546)Ggc>Agc	p.G182S		NM_178568	NP_848663	Q86UN2	R4RL1_HUMAN	Homo sapiens reticulon 4 receptor-like 1 (RTN4RL1), mRNA.	182					axon regeneration	anchored to plasma membrane	receptor activity	p.H181H(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						AGCTTGTTGCCGTGGAGAAAC	0.602													8	63					0	0	1	0	0	T	1840572	C	T	1840572	3	4	220	1	0	0	0	0	1	0	0	0	13731	652	23	2	785	2	RTN4RL1	17	1840572	Missense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08		1840572	79354638	29	9372											
TP53	7157	broad.mit.edu	37	chr17	7577076	7577077	+	Frame_Shift_Ins	INS	-	-	C																															tcccctttcttgcggagattINSctcttcctctgtgcgccggt																										TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr17:7577076_7577077insC	uc002gim.2	-	7	1055_1056	c.861_862insG	c.(859-864)gagaatfs	p.E287fs	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Frame_Shift_Ins_p.E287fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Ins_p.E155fs|TP53_uc010cnf.1_Frame_Shift_Ins_p.E155fs|TP53_uc002gii.1_Frame_Shift_Ins_p.E155fs|TP53_uc010cni.1_Frame_Shift_Ins_p.E287fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.E287fs|TP53_uc002gij.2_Frame_Shift_Ins_p.E287fs|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.	287	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.E286K(56)|p.N288fs*13(34)|p.E286*(18)|p.E286G(16)|p.E287*(11)|p.E287E(10)|p.E286V(8)|p.0?(8)|p.E287K(6)|p.N288S(6)|p.N288Y(6)|p.E286Q(5)|p.N288fs*18(5)|p.N288fs*57(5)|p.E287D(4)|p.E286fs*17(4)|p.E285_N288delEEEN(2)|p.E287G(2)|p.E287fs*17(2)|p.R282_E287delRRTEEE(2)|p.T284_G293del10(2)|p.N288D(2)|p.?(2)|p.L265_K305del41(2)|p.E286D(2)|p.E286E(2)|p.R283fs*16(2)|p.V272_K292del21(2)|p.N288fs*17(2)|p.N288fs*15(2)|p.E286fs*59(2)|p.E285_L289delEEENL(2)|p.E287V(1)|p.E287A(1)|p.N288K(1)|p.E285fs*13(1)|p.R283fs*56(1)|p.E286A(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)		TTGCGGAGATTCTCTTCCTCTG	0.569		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)			33	42	---	---	---	---						C	7577077	-	C	7577076	7	5	220	1	0	1	1	0	0	0	0	0	16378	1783	62	0	424	0	TP53	17	7577076	Frame_Shift_Ins	INS	-	TCGA-HT-7884-01B-11D-2395-08	5736504	7577076	73618134	30	9373			1	21		2	2	46	N	G_-	6.25046e-05
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			14	17					0	0	1	0	0	A	7577121	G	A	7577121	3	1	220	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-7884-01B-11D-2395-08	45	7577121	73618089	31	9374			1	21		2	2	46	N	G_-	6.25046e-05
LRRC37A3	374819	broad.mit.edu	37	chr17	62856443	62856443	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaatagcgtgggttaagTctttccatctgtctctcacc	8	14	9	10	1	4	0	1	0	3	0	6	1	5	1	2	2	1	1	2	2	3	3			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr17:62856443T>C	uc002jey.2	-	10	4437	c.3821A>G	c.(3820-3822)gAc>gGc	p.D1274G	LRRC37A3_uc010wqg.1_Missense_Mutation_p.D392G|LRRC37A3_uc002jex.1_Missense_Mutation_p.D251G|LRRC37A3_uc010wqf.1_Missense_Mutation_p.D312G|LRRC37A3_uc010dek.1_Missense_Mutation_p.D280G|DQ578599_uc021ubv.1_5'Flank	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	1274						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GTGGGTTAAGTCTTTCCATCT	0.458													21	154					0	0	1	0	0	C	62856443	T	C	62856443	3	2	220	1	0	0	0	0	1	0	0	0	8993	1667	58	3	1099	3	LRRC37A3	17	62856443	Missense_Mutation	SNP	T	TCGA-HT-7884-01B-11D-2395-08	55279322	62856443	18338767	32	9375											
USH1G	124590	broad.mit.edu	37	chr17	72916511	72916511	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atgcgccgctccgcctcgcgGaaggccttgtccttcagctt	4	10	11	16	5	1	0	1	0	0	0	4	1	3	1	5	2	2	2	5	2	1	3			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr17:72916511G>C	uc002jme.1	-	1	603	c.420C>G	c.(418-420)ttC>ttG	p.F140L	USH1G_uc010wro.1_Missense_Mutation_p.F37L	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), mRNA.	140					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CCGCCTCGCGGAAGGCCTTGT	0.672													4	67					0	0	1	0	0	C	72916511	G	C	72916511	3	2	220	1	0	0	0	0	1	0	0	0	17032	1165	41	5	973	5	USH1G	17	72916511	Missense_Mutation	SNP	G	TCGA-HT-7884-01B-11D-2395-08	10060068	72916511	8278699	33	9376											
CNDP1	84735	broad.mit.edu	37	chr18	72201914	72201914	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccagcctaatggatcccaaActcgggagaatggtgagtag	12	8	12	9	1	0	2	0	1	0	1	3	4	2	3	3	3	2	1	3	3	4	2			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr18:72201914A>T	uc002llq.3	+	0	223	c.12A>T	c.(10-12)aaA>aaT	p.K4N		NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	Homo sapiens carnosine dipeptidase 1 (metallopeptidase M20 family) (CNDP1), mRNA.	4					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TGGATCCCAAACTCGGGAGAA	0.537													13	33					0	0	1	0	0	T	72201914	A	T	72201914	3	4	220	1	0	0	0	0	1	0	0	0	3593	40	2	5	14	5	CNDP1	18	72201914	Missense_Mutation	SNP	A	TCGA-HT-7884-01B-11D-2395-08		72201914	5875334	34	9377											
MAST3	23031	broad.mit.edu	37	chr19	18260436	18260436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggttagcttcgatgagcCgcaggaggaggccactgggc	8	6	18	9	2	0	1	0	1	0	0	1	5	0	4	2	6	2	3	2	6	1	2			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr19:18260436C>T	uc002nhz.4	+	26	3830	c.3830C>T	c.(3829-3831)cCg>cTg	p.P1277L		NM_015016	NP_055831	O60307	MAST3_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA.	1277							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TTCGATGAGCCGCAGGAGGAG	0.667													8	32					0	0	1	0	0	T	18260436	C	T	18260436	3	4	220	1	0	0	0	0	1	0	0	0	9326	652	23	2	3936	2	MAST3	19	18260436	Missense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08		18260436	40868547	35	9378											
IL29	282618	broad.mit.edu	37	chr19	39788648	39788648	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggctgagctggccctgacGctgaaggtcctggaggccgc	6	6	17	12	2	0	3	0	3	0	0	1	5	1	4	3	5	1	3	3	5	1	0	rs150964916	byFrequency	TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr19:39788648G>A	uc002okv.3	+	2	391	c.294G>A	c.(292-294)acG>acA	p.T98T		NM_172140	NP_742152	Q8IU54	IL29_HUMAN	Homo sapiens interleukin 29 (interferon, lambda 1) (IL29), mRNA.	98					defense response to virus|negative regulation of cell proliferation|negative regulation of interleukin-13 production|negative regulation of interleukin-5 production|negative regulation of memory T cell differentiation|negative regulation of transcription, DNA-dependent|negative regulation of type 2 immune response|positive regulation of MHC class I biosynthetic process|positive regulation of immune response|positive regulation of interferon-gamma production|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of STAT protein	extracellular space|interleukin-28 receptor complex	cytokine activity|interleukin-28 receptor binding			endometrium(2)|lung(2)	4	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			TGGCCCTGACGCTGAAGGTCC	0.642													5	75					0	0	1	0	0	A	39788648	G	A	39788648	2	1	220	1	0	0	0	0	0	0	0	1	7685	1074	38	1		1	IL29	19	39788648	Silent	SNP	G	TCGA-HT-7884-01B-11D-2395-08	21528212	39788648	19340335	36	9379											
DIDO1	11083	broad.mit.edu	37	chr20	61511961	61511961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttagaagcgatattctcttCtggaaacggaggggctggcc	9	10	14	8	2	2	1	0	0	2	1	3	4	2	3	1	5	2	2	1	5	4	4			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr20:61511961C>T	uc002ydr.2	-	15	5659	c.5347G>A	c.(5347-5349)Gaa>Aaa	p.E1783K	DIDO1_uc002yds.2_Missense_Mutation_p.E1783K	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1783	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ATATTCTCTTCTGGAAACGGA	0.612													16	197					0	0	1	0	0	T	61511961	C	T	61511961	3	4	220	1	0	0	0	0	1	0	0	0	4522	922	32	3	1379	3	DIDO1	20	61511961	Missense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08		61511961	1513559	37	9380			2	22		2	2	32	C		4.305915e-05
DIDO1	11083	broad.mit.edu	37	chr20	61511992	61511992	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctggcccccttggtccCgggaaattggggccgtgaag	5	7	18	11	2	0	1	0	1	0	0	1	2	1	2	4	7	0	1	4	7	2	2			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr20:61511992C>T	uc002ydr.2	-	15	5628	c.5316G>A	c.(5314-5316)ccG>ccA	p.P1772P	DIDO1_uc002yds.2_Silent_p.P1772P	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1772	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCCTTGGTCCCGGGAAATTGG	0.632													11	198					0	0	1	0	0	T	61511992	C	T	61511992	2	4	220	1	0	0	0	0	0	0	0	1	4522	639	23	2		2	DIDO1	20	61511992	Silent	SNP	C	TCGA-HT-7884-01B-11D-2395-08	31	61511992	1513528	38	9381			2	22		2	2	32	C		4.305915e-05
USP16	10600	broad.mit.edu	37	chr21	30419419	30419419	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaatatagagattctgaaTgatagtcatactcctggaac	16	12	7	6	0	2	3	1	2	1	1	3	5	3	4	1	1	2	0	1	1	8	6			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr21:30419419T>C	uc002ymy.3	+	13	1990	c.1788T>C	c.(1786-1788)aaT>aaC	p.N596N	USP16_uc002ymx.3_Silent_p.N595N|USP16_uc002ymw.3_Silent_p.N596N|USP16_uc011acm.2_Silent_p.N581N|USP16_uc011acn.2_Silent_p.N262N|USP16_uc011aco.2_Silent_p.N286N	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	Homo sapiens ubiquitin specific peptidase 16 (USP16), transcript variant 1, mRNA.	596					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						AGATTCTGAATGATAGTCATA	0.378													25	131					0	0	1	0	0	C	30419419	T	C	30419419	2	2	220	1	0	0	0	0	0	0	0	1	17044	1461	51	3		3	USP16	21	30419419	Silent	SNP	T	TCGA-HT-7884-01B-11D-2395-08		30419419	17710476	39	9382											
FRMPD4	9758	broad.mit.edu	37	chrX	12736148	12736148	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggtaaatttggtactgTgtcttcacgagacagtcaac	11	12	10	8	1	3	1	2	0	1	1	3	2	3	1	0	2	2	2	0	2	4	4			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chrX:12736148T>C	uc004cuz.2	+	15	3709	c.3203T>C	c.(3202-3204)gTg>gCg	p.V1068A	FRMPD4_uc011mij.2_Missense_Mutation_p.V1060A	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	1068					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TTTGGTACTGTGTCTTCACGA	0.507													7	157					0	0	1	0	0	C	12736148	T	C	12736148	3	2	220	1	0	0	0	0	1	0	0	0	6059	1696	59	3	3265	3	FRMPD4	23	12736148	Missense_Mutation	SNP	T	TCGA-HT-7884-01B-11D-2395-08		12736148	142534412	40	9383											
PPP1R3F	89801	broad.mit.edu	37	chrX	49142309	49142309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccaggtttctgacgttcCgatgactggcaaccccgcag	7	9	11	14	3	1	2	0	2	1	0	3	3	3	2	4	2	1	5	4	2	1	2			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chrX:49142309C>T	uc004dnh.2	+	3	1184	c.1157C>T	c.(1156-1158)cCg>cTg	p.P386L	PPP1R3F_uc004dni.3_Missense_Mutation_p.P40L|PPP1R3F_uc011mnd.2_Missense_Mutation_p.P57L|PPP1R3F_uc004dnj.2_Missense_Mutation_p.P40L	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3F (PPP1R3F), transcript variant 1, mRNA.	386						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					TCTGACGTTCCGATGACTGGC	0.577													23	38					0	0	1	0	0	T	49142309	C	T	49142309	3	4	220	1	0	0	0	0	1	0	0	0	12375	652	23	2	1171	2	PPP1R3F	23	49142309	Missense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08	36406161	49142309	106128251	41	9384											
ATRX	546	broad.mit.edu	37	chrX	76939673	76939674	+	Frame_Shift_Ins	INS	-	-	T																															ttggctgtggtctcaatcagINStttttttgccttcttaatca																										TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chrX:76939673_76939674insT	uc004ecp.4	-	8	1306_1307	c.1074_1075insA	c.(1072-1077)aaactgfs	p.K358fs	ATRX_uc004ecq.4_Frame_Shift_Ins_p.K320fs|ATRX_uc004eco.4_Frame_Shift_Ins_p.K143fs|ATRX_uc004ecr.2_Frame_Shift_Ins_p.K319fs|ATRX_uc010nlx.1_Frame_Shift_Ins_p.K358fs|ATRX_uc010nly.1_Frame_Shift_Ins_p.K303fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	358					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GTCTCAATCAGTTTTTTTGCCT	0.366			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						71	136	---	---	---	---						T	76939674	-	T	76939673	7	5	220	1	0	1	1	0	0	0	0	0	1208	1020	36	0	6511	0	ATRX	23	76939673	Frame_Shift_Ins	INS	-	TCGA-HT-7884-01B-11D-2395-08	27797364	76939673	78330887	42	9385											
SERPINA7	6906	broad.mit.edu	37	chrX	105280577	105280577	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagaagtcggtagaaaagActtcagtctcatagagggtc	13	9	13	6	1	2	4	2	0	1	4	5	5	2	4	0	3	0	1	0	3	5	3			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chrX:105280577A>G	uc010npd.3	-	0	708	c.473T>C	c.(472-474)gTc>gCc	p.V158A	SERPINA7_uc004eme.2_Missense_Mutation_p.V158A|SERPINA7_uc010npe.2_Missense_Mutation_p.V158A	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	158					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.V158D(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GGTAGAAAAGACTTCAGTCTC	0.438													15	281					0	0	1	0	0	G	105280577	A	G	105280577	3	3	220	1	0	0	0	0	1	0	0	0	14094	275	10	3	790	3	SERPINA7	23	105280577	Missense_Mutation	SNP	A	TCGA-HT-7884-01B-11D-2395-08	28340904	105280577	49989983	43	9386											
HIVEP3	59269	broad.mit.edu	37	chr1	41990504	41990504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatgctgggcttcttgcagCgaattccacactcctcacaa	9	10	8	14	1	2	0	1	0	1	0	4	1	4	0	2	1	3	4	2	1	2	3			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr1:41990504C>T	uc001cgz.4	-	5	6498	c.5285G>A	c.(5284-5286)cGc>cAc	p.R1762H	HIVEP3_uc001cha.4_Missense_Mutation_p.R1762H|HIVEP3_uc001cgy.3_Intron	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	1762	ZAS2.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.R1762C(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTTCTTGCAGCGAATTCCACA	0.493													19	94					0	0	1	0	0	T	41990504	C	T	41990504	3	4	221	1	0	0	0	0	1	0	0	0	7188	768	27	1	1951	1	HIVEP3	1	41990504	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08		41990504	207260117	1	9387											
VAV3	10451	broad.mit.edu	37	chr1	108507542	108507544	+	Splice_Site	DEL	GCC	GCC	-																															gggcgggcggcaaggatgcgGccgccgccgccgccgccgcg																								rs71796067		TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr1:108507542_108507544delGCC	uc001dvk.1	-	1	1	c.-53_splice	c.e1-1		VAV3_uc010ouw.1_Splice_Site|VAV3_uc001dvl.1_5'Flank|VAV3_uc010oux.1_Splice_Site	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.						B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CAAGGATGCGgccgccgccgccg	0.773													6	10	---	---	---	---						-	108507544	GCC	-	108507542	8	5	221	1	0	1	0	1	0	0	1	0	17130	1218	42	0		0	VAV3	1	108507542	Splice_Site	DEL	GCC	TCGA-HT-7902-01A-12D-2395-08	66517038	108507542	140743079	2	9388											
SELENBP1	8991	broad.mit.edu	37	chr1	151338898	151338898	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatctcatggcgctgccaGtcccatacatataagtggct	11	10	8	12	1	1	0	1	0	1	0	3	0	2	0	2	2	2	2	2	2	4	3			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr1:151338898G>A	uc010pcy.2	-	6	952	c.822C>T	c.(820-822)gaC>gaT	p.D274D	SELENBP1_uc001exx.3_Silent_p.D232D|SELENBP1_uc010pcz.2_Silent_p.D170D|SELENBP1_uc001eya.3_Silent_p.D168D	NM_003944	NP_003935	Q13228	SBP1_HUMAN	Homo sapiens selenium binding protein 1 (SELENBP1), mRNA.	232					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGCGCTGCCAGTCCCATACAT	0.572													6	178					0	0	1	0	0	A	151338898	G	A	151338898	2	1	221	1	0	0	0	0	0	0	0	1	14014	1020	36	3		3	SELENBP1	1	151338898	Silent	SNP	G	TCGA-HT-7902-01A-12D-2395-08	42831356	151338898	97911723	3	9389											
PAPPA2	60676	broad.mit.edu	37	chr1	176668593	176668593	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagagattgatgcagcacTcctgacttctcagccccaca	11	9	8	13	0	1	3	1	2	1	1	3	5	2	3	3	0	3	2	3	0	1	3			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr1:176668593T>A	uc001gkz.3	+	7	4268	c.3104T>A	c.(3103-3105)cTc>cAc	p.L1035H	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1035					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.A1034E(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GATGCAGCACTCCTGACTTCT	0.557													9	159					0	0	1	0	0	A	176668593	T	A	176668593	3	1	221	1	0	0	0	0	1	0	0	0	11433	1551	54	5	3183	5	PAPPA2	1	176668593	Missense_Mutation	SNP	T	TCGA-HT-7902-01A-12D-2395-08	25329695	176668593	72582028	4	9390											
USH2A	7399	broad.mit.edu	37	chr1	215960035	215960035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaagagtacgtgtttacaCtccctgtatgaatggtttct	9	16	9	7	1	1	2	0	1	1	1	2	2	2	2	1	1	2	5	1	1	5	6			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr1:215960035C>T	uc001hku.1	-	51	10751	c.10364G>A	c.(10363-10365)aGt>aAt	p.S3455N		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3455	Fibronectin type-III 19.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.G3454W(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CGTGTTTACACTCCCTGTATG	0.433										HNSCC(13;0.011)			13	89					0	0	1	0	0	T	215960035	C	T	215960035	3	4	221	1	0	0	0	0	1	0	0	0	17033	565	20	3	5328	3	USH2A	1	215960035	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	39291442	215960035	33290586	5	9391											
ATAD2B	54454	broad.mit.edu	37	chr2	23985167	23985167	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcgactctagtttctgtcttCcgagctccagtactatgagg	7	14	9	11	2	3	1	0	1	3	0	6	3	5	1	2	1	2	3	2	1	3	5			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr2:23985167C>G	uc002rek.4	-	23	3602	c.3306G>C	c.(3304-3306)cgG>cgC	p.R1102R	ATAD2B_uc002rei.4_Silent_p.R1097R|ATAD2B_uc010yki.2_Non-coding_Transcript|ATAD2B_uc002rej.4_Silent_p.R270R	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	Homo sapiens ATPase family, AAA domain containing 2B (ATAD2B), transcript variant 1, mRNA.	1102							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCTGTCTTCCGAGCTCCAG	0.388													5	22					0	0	1	0	0	G	23985167	C	G	23985167	2	3	221	1	0	0	0	0	0	0	0	1	1072	842	30	5		5	ATAD2B	2	23985167	Silent	SNP	C	TCGA-HT-7902-01A-12D-2395-08		23985167	219214206	6	9392											
VWA3B	200403	broad.mit.edu	37	chr2	98744704	98744704	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccactgttttgcagatTgaatccatttactactttgt	9	16	7	9	0	0	2	0	1	0	1	1	2	1	2	2	1	3	3	2	1	3	7			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr2:98744704T>C	uc002syo.3	+	5	969	c.705T>C	c.(703-705)atT>atC	p.I235I	VWA3B_uc010yvh.2_Silent_p.I85I|VWA3B_uc002syj.3_Non-coding_Transcript|VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Intron|VWA3B_uc002sym.3_Silent_p.I235I|VWA3B_uc002syn.1_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	235										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTTTGCAGATTGAATCCATTT	0.468													5	162					0	0	1	0	0	C	98744704	T	C	98744704	2	2	221	1	0	0	0	0	0	0	0	1	17238	1800	63	3		3	VWA3B	2	98744704	Silent	SNP	T	TCGA-HT-7902-01A-12D-2395-08	74759537	98744704	144454669	7	9393											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								12	52					0	0	1	0	0	T	209113112	C	T	209113112	3	4	221	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	110368408	209113112	34086261	8	9394											
PECR	55825	broad.mit.edu	37	chr2	216904042	216904042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctccttcatctttttgaCaacagaaaggtcccctgctc	8	13	7	13	0	3	2	1	1	2	1	6	2	4	2	3	2	2	1	3	2	2	3			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr2:216904042C>T	uc002vft.3	-	7	943	c.868G>A	c.(868-870)Gtc>Atc	p.V290I	PECR_uc010zjq.2_Non-coding_Transcript	NM_018441	NP_060911	Q9BY49	PECR_HUMAN	Homo sapiens peroxisomal trans-2-enoyl-CoA reductase (PECR), mRNA.	290					fatty acid biosynthetic process|regulation of apoptosis	peroxisome	binding|trans-2-enoyl-CoA reductase (NADPH) activity			endometrium(2)|kidney(1)|liver(1)|lung(9)|stomach(1)	14		Renal(323;0.0327)		Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Adenine(DB00173)	ATCTTTTTGACAACAGAAAGG	0.483													17	67					0	0	1	0	0	T	216904042	C	T	216904042	3	4	221	1	0	0	0	0	1	0	0	0	11717	478	17	3	47	3	PECR	2	216904042	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	7790930	216904042	26295331	9	9395											
ECEL1	9427	broad.mit.edu	37	chr2	233348787	233348787	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaaagtggcgattggccTggcccaagcagacccgggcc	8	5	14	14	2	0	1	0	0	0	1	0	2	0	1	5	4	2	1	5	4	2	1			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr2:233348787T>G	uc002vsv.2	-	6	1536	c.1331A>C	c.(1330-1332)cAg>cCg	p.Q444P	ECEL1_uc010fya.1_Missense_Mutation_p.Q444P|ECEL1_uc010fyb.1_Missense_Mutation_p.Q151P	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	444					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GCGATTGGCCTGGCCCAAGCA	0.617													11	152					0	0	1	0	0	G	233348787	T	G	233348787	3	3	221	1	0	0	0	0	1	0	0	0	4891	1580	55	5	1044	5	ECEL1	2	233348787	Missense_Mutation	SNP	T	TCGA-HT-7902-01A-12D-2395-08	16444745	233348787	9850586	10	9396											
RNPEPL1	57140	broad.mit.edu	37	chr2	241513688	241513688	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttcggcaacgctgtcaccaAcgccacgtgggaagagatgt	10	7	13	11	4	1	1	1	0	0	1	2	3	1	2	2	2	2	3	2	2	3	1			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr2:241513688A>G	uc002vzi.3	+	4	1097	c.404A>G	c.(403-405)aAc>aGc	p.N135S	RNPEPL1_uc002vzj.3_5'Flank	NM_018226	NP_060696	Q9HAU8	RNPL1_HUMAN	Homo sapiens arginyl aminopeptidase (aminopeptidase B)-like 1 (RNPEPL1), mRNA.	135					leukotriene biosynthetic process|proteolysis		aminopeptidase activity|metallopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		GCTGTCACCAACGCCACGTGG	0.632													22	69					0	0	1	0	0	G	241513688	A	G	241513688	3	3	221	1	0	0	0	0	1	0	0	0	13510	43	2	3	414	3	RNPEPL1	2	241513688	Missense_Mutation	SNP	A	TCGA-HT-7902-01A-12D-2395-08	8164901	241513688	1685685	11	9397											
DNAH1	25981	broad.mit.edu	37	chr3	52406256	52406256	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgccaggtgctgtgcattgGgccaacaggcacggggaaga	9	6	16	10	1	0	1	0	0	0	1	0	2	0	2	2	5	4	3	2	5	2	1			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr3:52406256G>T	uc011bef.2	+	42	6941	c.6680G>T	c.(6679-6681)gGg>gTg	p.G2227V		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2227	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGTGCATTGGGCCAACAGGC	0.612													3	45					1	1	1	1	0	T	52406256	G	T	52406256	3	4	221	1	0	0	0	0	1	0	0	0	4597	1232	43	5	6846	5	DNAH1	3	52406256	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08		52406256	145616174	12	9398											
PTPRG	5793	broad.mit.edu	37	chr3	62248553	62248553	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacaagcacaaaaacagataCatcaacattttagcatgtga	20	8	5	8	0	1	2	1	1	0	1	1	2	1	2	0	0	6	2	0	0	7	3			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr3:62248553C>G	uc003dlb.3	+	16	3359	c.2640C>G	c.(2638-2640)taC>taG	p.Y880*	PTPRG_uc003dlc.3_Nonsense_Mutation_p.Y851*|PTPRG_uc011bfi.2_Nonsense_Mutation_p.Y126*|LOC100506994_uc003dld.4_Non-coding_Transcript|LOC100506994_uc010hnp.3_Non-coding_Transcript|LOC100506994_uc003dle.4_Non-coding_Transcript|LOC100506994_uc010hno.3_Non-coding_Transcript	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	880	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AAAACAGATACATCAACATTT	0.393													4	29					0	0	1	0	0	G	62248553	C	G	62248553	4	3	221	1	0	0	0	0	0	1	0	0	12802	489	17	5	2706	5	PTPRG	3	62248553	Nonsense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	9842297	62248553	135773877	13	9399											
ANXA3	306	broad.mit.edu	37	chr4	79512710	79512710	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttcagtatacaagaagaGtcttggagatgacattagtt	13	13	11	4	0	2	4	1	1	1	3	2	5	2	4	0	2	1	3	0	2	5	6			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr4:79512710G>T	uc003hld.3	+	6	726	c.416G>T	c.(415-417)aGt>aTt	p.S139I		NM_005139	NP_005130	P12429	ANXA3_HUMAN	Homo sapiens annexin A3 (ANXA3), mRNA.	139					defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity	phagocytic vesicle membrane|plasma membrane|specific granule	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TACAAGAAGAGTCTTGGAGAT	0.338													5	117					2.7689e-08	3.32268e-08	1	1	0	T	79512710	G	T	79512710	3	4	221	1	0	0	0	0	1	0	0	0	719	1029	36	5	438	5	ANXA3	4	79512710	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08		79512710	111641566	14	9400											
PLCXD3	345557	broad.mit.edu	37	chr5	41313757	41313757	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcatcaaagacatagttgaGctttatgacagtgctgataa	14	13	8	6	0	2	4	2	3	0	1	2	4	2	4	0	0	2	3	0	0	4	6			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr5:41313757G>T	uc003jmm.1	-	2	1030	c.928C>A	c.(928-930)Ctc>Atc	p.L310I		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	310					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						ACATAGTTGAGCTTTATGACA	0.433													4	73					2.56e-06	2.95385e-06	1	1	0	T	41313757	G	T	41313757	3	4	221	1	0	0	0	0	1	0	0	0	12043	971	34	5	41	5	PLCXD3	5	41313757	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08		41313757	139601503	15	9401											
TRERF1	55809	broad.mit.edu	37	chr6	42196333	42196333	+	Frame_Shift_Del	DEL	T	T	-																															caaaagccgccttctgagccTtttgcctctgttgttcctcc																										TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr6:42196333delT	uc003ose.2	-	17	3976	c.3413delA	c.(3412-3414)aagfs	p.K1138fs	TRERF1_uc011duq.1_Frame_Shift_Del_p.K1035fs|TRERF1_uc003osb.2_Frame_Shift_Del_p.K886fs|TRERF1_uc003osc.2_Frame_Shift_Del_p.K874fs|TRERF1_uc003osd.2_Frame_Shift_Del_p.K1118fs	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	1118	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.P1138P(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTGAGCCTTTTGCCTCTG	0.542													7	656	---	---	---	---						-	42196333	T	-	42196333	7	5	221	1	0	1	0	1	0	0	0	0	16472	1609	56	0	253	0	TRERF1	6	42196333	Frame_Shift_Del	DEL	T	TCGA-HT-7902-01A-12D-2395-08		42196333	128918734	16	9402											
MUC17	140453	broad.mit.edu	37	chr7	100677107	100677107	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caatctcaactcctagtgaaGgaagtcctttattaacaagt	14	12	6	9	0	1	1	1	1	1	0	4	2	3	2	2	1	2	0	2	1	8	4			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr7:100677107G>T	uc003uxp.1	+	2	2463	c.2410G>T	c.(2410-2412)Gga>Tga	p.G804*	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	804	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCCTAGTGAAGGAAGTCCTTT	0.478													22	524					3.73194e-20	4.56972e-20	1	1	0	T	100677107	G	T	100677107	4	4	221	1	0	0	0	0	0	1	0	0	9974	1001	35	5	2420	5	MUC17	7	100677107	Nonsense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08		100677107	58461556	17	9403											
ZNF485	220992	broad.mit.edu	37	chr10	44112250	44112250	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggaaagccttcgctcaGaatgcagctcttactcgtca	9	11	10	11	2	3	1	2	0	1	1	5	2	3	2	1	1	4	3	1	1	3	2			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr10:44112250G>T	uc010qfc.2	+	4	953	c.759G>T	c.(757-759)caG>caT	p.Q253H	ZNF485_uc010qfd.2_Missense_Mutation_p.Q162H	NM_145312	NP_660355	Q8NCK3	ZN485_HUMAN	Homo sapiens zinc finger protein 485 (ZNF485), mRNA.	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						CCTTCGCTCAGAATGCAGCTC	0.398													4	79					0.000602214	0.000656961	1	1	0	T	44112250	G	T	44112250	3	4	221	1	0	0	0	0	1	0	0	0	17935	933	33	5	773	5	ZNF485	10	44112250	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08		44112250	91422497	18	9404											
KRTAP5-1	387264	broad.mit.edu	37	chr11	1606166	1606166	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aagagccacagccccccttgGagcccccacaggagccacaa	12	2	9	18	0	0	1	0	0	0	1	0	3	0	3	7	2	4	0	7	2	2	1			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr11:1606166G>C	uc001ltu.1	-	0	348	c.314C>G	c.(313-315)tCc>tGc	p.S105C	MOB2_uc001ltq.2_Intron|LOC338651_uc009ycx.1_Intron|LOC338651_uc001ltt.1_Intron	NM_001005922	NP_001005922	Q6L8H4	KRA51_HUMAN	Homo sapiens keratin associated protein 5-1 (KRTAP5-1), mRNA.	105	8 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCCCCCTTGGAGCCCCCACA	0.672													4	84					0	0	1	0	0	C	1606166	G	C	1606166	3	2	221	1	0	0	0	0	1	0	0	0	8558	1174	41	5	526	5	KRTAP5-1	11	1606166	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08		1606166	133400350	19	9405											
OR4C16	219428	broad.mit.edu	37	chr11	55339753	55339753	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attattagtgtcaagaccagCcaggcacttaagaacccaat	15	9	7	10	0	1	2	1	0	0	2	1	2	1	2	3	1	2	1	3	1	6	3			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr11:55339753C>T	uc010rih.2	+	0	150	c.150C>T	c.(148-150)agC>agT	p.S50S		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TCAAGACCAGCCAGGCACTTA	0.388													35	96					0	0	1	0	0	T	55339753	C	T	55339753	2	4	221	1	0	0	0	0	0	0	0	1	11049	738	26	3		3	OR4C16	11	55339753	Silent	SNP	C	TCGA-HT-7902-01A-12D-2395-08	53733587	55339753	79666763	20	9406											
MS4A14	84689	broad.mit.edu	37	chr11	60164158	60164158	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcatagctctctgctggAttttctgaagggagagccaa	10	11	10	10	0	3	2	1	1	2	1	4	4	3	3	2	2	3	2	2	2	3	3			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr11:60164158A>G	uc001npj.3	+	0	672	c.107A>G	c.(106-108)gAt>gGt	p.D36G	MS4A14_uc001npi.3_Intron|MS4A14_uc001npn.3_5'UTR|MS4A14_uc001npk.3_Missense_Mutation_p.D36G|MS4A14_uc001npl.3_5'UTR|MS4A14_uc001npm.3_5'UTR	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	36						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TCTCTGCTGGATTTTCTGAAG	0.443													5	36					0	0	1	0	0	G	60164158	A	G	60164158	3	3	221	1	0	0	0	0	1	0	0	0	9858	333	12	3	109	3	MS4A14	11	60164158	Missense_Mutation	SNP	A	TCGA-HT-7902-01A-12D-2395-08	4824405	60164158	74842358	21	9407											
MARK2	2011	broad.mit.edu	37	chr11	63668064	63668064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtactgaggggaaaatacCgtattccattctacatgtcc	11	11	10	9	1	1	1	0	1	1	0	3	2	3	2	3	3	3	2	3	3	6	6			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr11:63668064C>T	uc001nxw.3	+	8	1381	c.802C>T	c.(802-804)Cgt>Tgt	p.R268C	MARK2_uc001nxv.4_Missense_Mutation_p.R268C|MARK2_uc001nxx.3_Missense_Mutation_p.R268C|MARK2_uc001nxy.3_Missense_Mutation_p.R268C|MARK2_uc001nxz.4_Missense_Mutation_p.R235C|MARK2_uc009yoy.3_Missense_Mutation_p.R235C	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.	268	Protein kinase.				cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.R235S(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						GGGAAAATACCGTATTCCATT	0.468													6	350					0	0	1	0	0	T	63668064	C	T	63668064	3	4	221	1	0	0	0	0	1	0	0	0	9313	652	23	2	836	2	MARK2	11	63668064	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	3503906	63668064	71338452	22	9408											
C11orf30	56946	broad.mit.edu	37	chr11	76255366	76255366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttggaactgaggagggcgagGttgaagagatggacacttta	12	9	16	4	1	0	3	0	2	0	1	0	8	0	6	0	5	1	1	0	5	3	4			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr11:76255366G>A	uc001oxl.3	+	18	2916	c.2773G>A	c.(2773-2775)Gtt>Att	p.V925I	C11orf30_uc001oxm.3_Missense_Mutation_p.V827I|C11orf30_uc010rsb.2_Missense_Mutation_p.V940I|C11orf30_uc010rsc.2_Missense_Mutation_p.V926I|C11orf30_uc001oxn.3_Missense_Mutation_p.V926I|C11orf30_uc010rsd.2_Missense_Mutation_p.V834I|C11orf30_uc001oxo.1_Missense_Mutation_p.V279I|C11orf30_uc010rse.2_Missense_Mutation_p.V172I|C11orf30_uc001oxp.3_Missense_Mutation_p.V25I	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	Homo sapiens chromosome 11 open reading frame 30 (C11orf30), mRNA.	925					DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						GGAGGGCGAGGTTGAAGAGAT	0.463													4	86					0	0	1	0	0	A	76255366	G	A	76255366	3	1	221	1	0	0	0	0	1	0	0	0	1636	1261	44	3	2843	3	C11orf30	11	76255366	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08	12587302	76255366	58751150	23	9409											
SLC2A14	144195	broad.mit.edu	37	chr12	7984329	7984329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggggcatttgccttgtccGtcaaagttttattgataaat	10	15	10	6	1	1	1	1	1	0	0	2	2	2	1	2	2	1	2	2	2	4	6			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr12:7984329G>A	uc010sgh.2	-	2	278	c.257C>T	c.(256-258)aCg>aTg	p.T86M	SLC2A14_uc001qtk.3_Missense_Mutation_p.T71M|SLC2A14_uc001qtl.3_Missense_Mutation_p.T48M|SLC2A14_uc001qtm.3_Missense_Mutation_p.T48M|SLC2A14_uc010sgg.2_Intron|SLC2A14_uc001qtn.3_Missense_Mutation_p.T71M|SLC2A14_uc001qto.3_Intron	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	71					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		TGCCTTGTCCGTCAAAGTTTT	0.448											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	100					0	0	1	0	0	A	7984329	G	A	7984329	3	1	221	1	0	0	0	0	1	0	0	0	14543	1145	40	1	1382	1	SLC2A14	12	7984329	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08		7984329	125867566	24	9410											
GPRC5D	55507	broad.mit.edu	37	chr12	13103216	13103216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtagcagaattgtgaccaCgatgccaagtatggccaggg	12	7	14	8	1	0	2	0	1	0	1	0	4	0	2	3	2	2	3	3	2	4	3			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr12:13103216C>T	uc010shp.2	-	0	103	c.103G>A	c.(103-105)Gtg>Atg	p.V35M		NM_018654	NP_061124	Q9NZD1	GPC5D_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member D (GPRC5D), mRNA.	35						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.I34I(1)		kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		ATTGTGACCACGATGCCAAGT	0.532													22	114					0	0	1	0	0	T	13103216	C	T	13103216	3	4	221	1	0	0	0	0	1	0	0	0	6727	536	19	1	944	1	GPRC5D	12	13103216	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	5118887	13103216	120748679	25	9411											
NKX2-1	7080	broad.mit.edu	37	chr14	36988289	36988289	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggcagctcgctcatgttgcCcaggttgccgttgcagtagc	5	10	13	13	3	1	0	1	0	0	0	2	0	1	0	2	2	5	8	2	2	1	4			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr14:36988289C>A	uc001wtu.3	-	1	460	c.364G>T	c.(364-366)Ggc>Tgc	p.G122C	SFTA3_uc001wts.3_Intron|NKX2-1_uc001wtt.3_Missense_Mutation_p.G92C|NKX2-1_uc001wtv.3_Missense_Mutation_p.G92C|BX161496_uc001wtw.1_5'Flank	NM_001079668	NP_001073136	P43699	NKX21_HUMAN	Homo sapiens NK2 homeobox 1 (NKX2-1), transcript variant 1, mRNA.	92					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		CTCATGTTGCCCAGGTTGCCG	0.721			A		NSCLC								5	23					0.184627	0.190994	1	1	0	A	36988289	C	A	36988289	3	1	221	1	0	0	0	0	1	0	0	0	10449	623	22	5	849	5	NKX2-1	14	36988289	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08		36988289	70361251	26	9412											
TGM5	9333	broad.mit.edu	37	chr15	43545093	43545093	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccgtctgtgtaattctcactCcagtttccattgagcacccc	7	13	6	15	1	2	1	1	1	2	0	5	1	4	1	5	0	1	3	5	0	1	4			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr15:43545093C>T	uc001zrd.2	-	5	734	c.726G>A	c.(724-726)tgG>tgA	p.W242*	TGM5_uc001zre.2_Nonsense_Mutation_p.W160*	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	242					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	AATTCTCACTCCAGTTTCCAT	0.532													15	72					0	0	1	0	0	T	43545093	C	T	43545093	4	4	221	1	0	0	0	0	0	1	0	0	15830	856	30	3	1468	3	TGM5	15	43545093	Nonsense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08		43545093	58986299	27	9413											
SYNM	23336	broad.mit.edu	37	chr15	99673028	99673028	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctcggtgtgtctgaccgtgGttcctggagagacgcggaca	6	10	15	10	4	2	2	0	1	2	1	4	5	3	4	2	4	0	1	2	4	0	1			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr15:99673028G>T	uc002bup.3	+	4	4580	c.4460G>T	c.(4459-4461)gGt>gTt	p.G1487V	SYNM_uc002buo.3_Missense_Mutation_p.G1175V|SYNM_uc002buq.3_Non-coding_Transcript	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	1488	Interaction with DMD and UTRN.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TCTGACCGTGGTTCCTGGAGA	0.567													11	181					1.58986e-06	1.87043e-06	1	1	0	T	99673028	G	T	99673028	3	4	221	1	0	0	0	0	1	0	0	0	15452	1261	44	5	4476	5	SYNM	15	99673028	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08	56127935	99673028	2858364	28	9414											
CACNG3	10368	broad.mit.edu	37	chr16	24372952	24372952	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggcggtcaagttctcgctCcaccgagcccagatcccgag	8	6	12	15	4	2	1	1	0	1	1	5	4	4	1	4	2	1	2	4	2	1	1			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr16:24372952C>A	uc002dmf.3	+	3	1918	c.716C>A	c.(715-717)tCc>tAc	p.S239Y		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	239					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		AGTTCTCGCTCCACCGAGCCC	0.577													8	106					0.000442599	0.000501056	1	1	0	A	24372952	C	A	24372952	3	1	221	1	0	0	0	0	1	0	0	0	2558	855	30	5	730	5	CACNG3	16	24372952	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08		24372952	65981801	29	9415											
C16orf46	123775	broad.mit.edu	37	chr16	81095242	81095242	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccacatccagcaccttctCttctgactgcaagaaagagt	11	11	6	13	0	2	3	0	1	2	2	5	3	4	3	3	0	2	2	3	0	2	3			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr16:81095242C>A	uc002fgc.4	-	3	971	c.712G>T	c.(712-714)Gag>Tag	p.E238*	C16orf46_uc010chf.3_Nonsense_Mutation_p.E238*|C16orf46_uc010vno.2_5'UTR	NM_152337	NP_689550	Q6P387	CP046_HUMAN	Homo sapiens chromosome 16 open reading frame 46 (C16orf46), transcript variant 2, mRNA.	238										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						AGCACCTTCTCTTCTGACTGC	0.478													5	276					0.014758	0.0155347	1	1	0	A	81095242	C	A	81095242	4	1	221	1	0	0	0	0	0	1	0	0	1815	922	32	5	507	5	C16orf46	16	81095242	Nonsense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	56722290	81095242	9259511	30	9416											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	11	6	9	15	1	2	1	2	0	0	1	2	1	2	1	4	3	0	2	4	3	2	2	rs121912666		TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr17:7578190T>C	uc002gim.2	-	5	853	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.3_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.2_Missense_Mutation_p.Y181C|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(516)|p.Y127C(24)|p.Y220S(22)|p.Y220N(12)|p.Y220H(11)|p.?(11)|p.0?(8)|p.P219S(4)|p.P219P(4)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(3)|p.P219L(3)|p.Y220_P223delYEPP(2)|p.V218_Y220delVPY(2)|p.V216_Y220delVVVPY(2)|p.P219T(2)|p.Y220fs*25(2)|p.V218_E221delVPYE(2)|p.Y220fs*2(2)|p.V218_E224delVPYEPPE(2)|p.K164_P219del(1)|p.Y220L(1)|p.Y220fs*1(1)|p.Y127S(1)|p.V218_P219insX(1)|p.D208fs*1(1)|p.P219R(1)|p.P219C(1)|p.P219H(1)|p.V218fs*26(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)		AGGCGGCTCATAGGGCACCAC	0.557		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)			5	45					0	0	1	0	0	C	7578190	T	C	7578190	3	2	221	1	0	0	0	0	1	0	0	0	16378	1406	49	3	635	3	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-HT-7902-01A-12D-2395-08		7578190	73617020	31	9417											
TP53	7157	broad.mit.edu	37	chr17	7578403	7578403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcgctcatggtgggggCagcgcctcacaacctccgtc	7	6	13	15	3	2	0	2	0	0	0	4	0	3	0	3	3	4	3	3	3	1	0			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr17:7578403C>T	uc002gim.2	-	4	721	c.527G>A	c.(526-528)tGc>tAc	p.C176Y	TP53_uc002gig.1_Missense_Mutation_p.C176Y|TP53_uc002gih.3_Missense_Mutation_p.C176Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C44Y|TP53_uc010cnf.1_Missense_Mutation_p.C44Y|TP53_uc002gii.1_Missense_Mutation_p.C44Y|TP53_uc010cni.1_Missense_Mutation_p.C176Y|TP53_uc010cnh.1_Missense_Mutation_p.C176Y|TP53_uc002gij.2_Missense_Mutation_p.C176Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C83Y|TP53_uc002gio.2_Missense_Mutation_p.C44Y|TP53_uc010vug.2_Missense_Mutation_p.C137Y	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	176	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(807)|p.C176F(241)|p.C176Y(122)|p.C176S(27)|p.R175L(19)|p.R175G(15)|p.R175C(15)|p.C176R(12)|p.C176W(11)|p.C83F(9)|p.C44F(9)|p.0?(8)|p.C176*(8)|p.C176fs*71(7)|p.R175P(6)|p.C176_R181delCPHHER(6)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.C176G(4)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.C176fs*5(3)|p.V157_C176del20(2)|p.C176fs*65(2)|p.C176_P177delCP(2)|p.C176fs*68(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R175fs*5(2)|p.R174_C176delRRC(2)|p.V173fs*59(2)|p.C176del(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.C176fs*72(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.R81fs*24(1)|p.C176fs*6(1)|p.H178fs*3(1)|p.R174fs*3(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)		ATGGTGGGGGCAGCGCCTCAC	0.652		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)			16	61					0	0	1	0	0	T	7578403	C	T	7578403	3	4	221	1	0	0	0	0	1	0	0	0	16378	710	25	3	771	3	TP53	17	7578403	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	213	7578403	73616807	32	9418											
ZNF287	57336	broad.mit.edu	37	chr17	16456736	16456736	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catgcttgggctttagtttcCcattctgaaataaaaaatat	13	15	6	7	0	1	1	0	1	1	0	2	1	2	1	1	1	1	3	1	1	6	7			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr17:16456736C>A	uc021trd.1	-	5	1338	c.720G>T	c.(718-720)tgG>tgT	p.W240C	ZNF287_uc002gqi.2_Missense_Mutation_p.W240C	NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	Homo sapiens zinc finger protein 287 (ZNF287), mRNA.	233					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|prostate(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (92;0.083)		CTTTAGTTTCCCATTCTGaaa	0.318													5	102					0.000602214	0.000656961	1	1	0	A	16456736	C	A	16456736	3	1	221	1	0	0	0	0	1	0	0	0	17822	624	22	5	1569	5	ZNF287	17	16456736	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	8878333	16456736	64738474	33	9419											
UBC	7316	broad.mit.edu	37	chr17	21730997	21730997	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcccagtgacaccatcgAaaatgtgaaggccaagatcc	14	5	11	11	1	0	3	0	2	0	1	2	5	1	4	4	2	1	0	4	2	4	0			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr17:21730997A>G	uc002gyy.3	+	1	424	c.299A>G	c.(298-300)gAa>gGa	p.E100G				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	252	Ubiquitin-like 2.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|JNK cascade|M/G1 transition of mitotic cell cycle|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|S phase of mitotic cell cycle|T cell receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|innate immune response|mRNA metabolic process|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.I99I(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GACACCATCGAAAATGTGAAG	0.557													9	70					0	0	1	0	0	G	21730997	A	G	21730997	3	3	221	1	0	0	0	0	1	0	0	0	16839	261	9	3		3	UBC	17	21730997	Missense_Mutation	SNP	A	TCGA-HT-7902-01A-12D-2395-08	5274261	21730997	59464213	34	9420											
GRB7	2886	broad.mit.edu	37	chr17	37902199	37902199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaactctggttccacgggcGcatttcccgtgaggagagcc	7	8	12	14	3	1	2	0	1	1	1	3	3	3	2	4	3	2	2	4	3	1	2	rs149195822		TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr17:37902199G>A	uc002hsr.3	+	12	1579	c.1304G>A	c.(1303-1305)cGc>cAc	p.R435H	GRB7_uc002hss.3_Missense_Mutation_p.R435H|GRB7_uc021twu.1_Missense_Mutation_p.R458H|GRB7_uc010cwc.3_Missense_Mutation_p.R435H|GRB7_uc002hst.3_Intron	NM_005310	NP_005301	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.	435	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	SH3/SH2 adaptor activity|phosphatidylinositol binding|protein kinase binding	p.R435H(2)		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)			TTCCACGGGCGCATTTCCCGT	0.622													5	291					0	0	1	0	0	A	37902199	G	A	37902199	3	1	221	1	0	0	0	0	1	0	0	0	6759	1087	38	1	1350	1	GRB7	17	37902199	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08	16171202	37902199	43293011	35	9421											
GZMM	3004	broad.mit.edu	37	chr19	549133	549133	+	Frame_Shift_Del	DEL	C	C	-																															cttctggaacggcagcctctCccccagcatggtctgcctgg																										TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr19:549133delC	uc002low.1	+	3	605	c.560delC	c.(559-561)tccfs	p.S187fs		NM_005317	NP_005308	P51124	GRAM_HUMAN	Homo sapiens granzyme M (lymphocyte met-ase 1) (GZMM), mRNA.	187	Peptidase S1.				apoptosis|cytolysis|innate immune response|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(1)|large_intestine(1)|prostate(1)	3		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GGCAGCCTCTCCCCCAGCATG	0.706													2	4	---	---	---	---						-	549133	C	-	549133	7	5	221	1	0	1	0	1	0	0	0	0	6919	855	30	0	574	0	GZMM	19	549133	Frame_Shift_Del	DEL	C	TCGA-HT-7902-01A-12D-2395-08		549133	58579850	36	9422											
TIMM44	10469	broad.mit.edu	37	chr19	7997604	7997604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggaggatctccgtgagcaCctccgacatctctgtcttgg	6	10	11	14	3	3	1	0	1	3	0	6	4	4	3	4	3	1	1	4	3	0	1			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr19:7997604C>T	uc002miz.3	-	8	1067	c.895G>A	c.(895-897)Gtg>Atg	p.V299M	TIMM44_uc010dvx.2_Non-coding_Transcript	NM_006351	NP_006342	O43615	TIM44_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 44 homolog (yeast) (TIMM44), nuclear gene encoding mitochondrial protein, mRNA.	299					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						TCCGTGAGCACCTCCGACATC	0.652													18	95					0	0	1	0	0	T	7997604	C	T	7997604	3	4	221	1	0	0	0	0	1	0	0	0	15909	507	18	3	483	3	TIMM44	19	7997604	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	7448471	7997604	51131379	37	9423											
MUC16	94025	broad.mit.edu	37	chr19	9073488	9073488	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaaatatctgggaactttGttgactgagcaggagttggt	12	12	13	4	0	1	3	0	2	1	1	1	5	1	5	0	3	2	3	0	3	4	4			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr19:9073488G>T	uc002mkp.3	-	2	14162	c.13958C>A	c.(13957-13959)aCa>aAa	p.T4653K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4655	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGGAACTTTGTTGACTGAGC	0.458													8	119					0.00307968	0.00329966	1	1	0	T	9073488	G	T	9073488	3	4	221	1	0	0	0	0	1	0	0	0	9973	1377	48	5	29893	5	MUC16	19	9073488	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08	1075884	9073488	50055495	38	9424											
SBF1	6305	broad.mit.edu	37	chr22	50903540	50903540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcgtcctctaccagcccacGctggcccaggaaggctgcct	7	7	10	17	2	1	0	0	0	1	0	3	1	2	1	5	3	3	2	5	3	2	1			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chr22:50903540G>A	uc003blh.3	-	11	1417	c.1222C>T	c.(1222-1224)Cgt>Tgt	p.R408C	SBF1_uc011arx.2_Missense_Mutation_p.R72C|SBF1_uc003bli.2_Missense_Mutation_p.R409C	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	408	dDENN.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		ACCAGCCCACGCTGGCCCAGG	0.632													4	46					0	0	1	0	0	A	50903540	G	A	50903540	3	1	221	1	0	0	0	0	1	0	0	0	13858	1087	38	1	4579	1	SBF1	22	50903540	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08		50903540	401026	39	9425											
ATRX	546	broad.mit.edu	37	chrX	76849196	76849196	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatttcctctgccattcgaAgaatttcaaagagaagtacc	14	11	6	10	1	2	2	1	0	1	2	4	4	3	2	3	0	2	1	3	0	6	4			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chrX:76849196A>G	uc004ecp.4	-	25	6312	c.6080T>C	c.(6079-6081)cTt>cCt	p.L2027P	ATRX_uc004ecq.4_Missense_Mutation_p.L1989P|ATRX_uc004eco.4_Missense_Mutation_p.L1812P	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2027	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TGCCATTCGAAGAATTTCAAA	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						18	68					0	0	1	0	0	G	76849196	A	G	76849196	3	3	221	1	0	0	0	0	1	0	0	0	1208	72	3	4	1438	4	ATRX	23	76849196	Missense_Mutation	SNP	A	TCGA-HT-7902-01A-12D-2395-08		76849196	78421364	40	9426											
ODZ1	10178	broad.mit.edu	37	chrX	123517776	123517776	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttatgacctgacctcggctGctgaacacagctagtggggt	8	11	12	10	1	0	3	0	3	0	0	1	3	0	3	2	3	3	3	2	3	3	3			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chrX:123517776G>A	uc010nqy.3	-	29	7069	c.7005C>T	c.(7003-7005)agC>agT	p.S2335S	ODZ1_uc011muj.2_Silent_p.S2334S|ODZ1_uc004euj.3_Silent_p.S2328S	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2328					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						GACCTCGGCTGCTGAACACAG	0.423													8	129					0	0	1	0	0	A	123517776	G	A	123517776	2	1	221	1	0	0	0	0	0	0	0	1	10834	1310	46	3		3	ODZ1	23	123517776	Silent	SNP	G	TCGA-HT-7902-01A-12D-2395-08	46668580	123517776	31752784	41	9427											
SMARCA1	6594	broad.mit.edu	37	chrX	128633716	128633716	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaaatagctcaccattctcGttgcatcttactcagcccca	10	12	5	14	1	4	1	2	1	2	0	5	1	4	1	3	0	4	3	3	0	3	4			TCGA-HT-7902-01A-12D-2395-08	TCGA-HT-7902-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97376c7c-f8e6-4dbf-8ba4-473c5d63c770	b902f262-ad73-455f-8fa4-4d3e4babcd7b	g.chrX:128633716G>A	uc011muk.1	-	9	1383	c.1270C>T	c.(1270-1272)Cga>Tga	p.R424*	SMARCA1_uc004eun.4_Nonsense_Mutation_p.R424*|SMARCA1_uc004eup.4_Nonsense_Mutation_p.R424*|SMARCA1_uc011mul.1_Nonsense_Mutation_p.R424*	NM_003069	NP_003060	P28370	SMCA1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA.	424					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CACCATTCTCGTTGCATCTTA	0.318													31	94					0	0	1	0	0	A	128633716	G	A	128633716	4	1	221	1	0	0	0	0	0	1	0	0	14768	1153	40	1	1954	1	SMARCA1	23	128633716	Nonsense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08	5115940	128633716	26636844	42	9428											
PRAMEF11	440560	broad.mit.edu	37	chr1	12884981	12884981	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcagcaccataactttccTgcggggcaggatacagctcc	10	8	9	14	1	1	0	1	0	0	0	3	1	3	1	3	3	5	3	3	3	2	3	rs4989318	by1000genomes	TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr1:12884981T>C	uc001auk.2	-	3	1326	c.1130A>G	c.(1129-1131)cAg>cGg	p.Q377R		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	377										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATAACTTTCCTGCGGGGCAGG	0.507													6	86					0	0	1	0	0	C	12884981	T	C	12884981	3	2	222	1	0	0	0	0	1	0	0	0	12427	1580	55	4	184	4	PRAMEF11	1	12884981	Missense_Mutation	SNP	T	TCGA-HT-8010-01A-11D-2395-08		12884981	236365640	1	9429											
CCDC88A	55704	broad.mit.edu	37	chr2	55582839	55582839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcagatgaagaggcatGgggtagaaaatggagaccat	14	7	15	5	0	0	5	0	1	0	4	0	6	0	5	1	4	1	3	1	4	4	1			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr2:55582839G>A	uc002ryv.2	-	7	1518	c.676C>T	c.(676-678)Cat>Tat	p.H226Y	CCDC88A_uc010ypa.1_Missense_Mutation_p.H226Y|CCDC88A_uc010yoz.1_Missense_Mutation_p.H226Y|CCDC88A_uc010ypb.1_Missense_Mutation_p.H128Y	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	226					DNA replication|TOR signaling cascade|activation of protein kinase B activity|cell migration|cellular membrane organization|lamellipodium assembly|microtubule cytoskeleton organization|regulation of DNA replication|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of neuron projection development	Golgi apparatus|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GAAGAGGCATGGGGTAGAAAA	0.443													18	50					0	0	1	0	0	A	55582839	G	A	55582839	3	1	222	1	0	0	0	0	1	0	0	0	2863	1348	47	3	5039	3	CCDC88A	2	55582839	Missense_Mutation	SNP	G	TCGA-HT-8010-01A-11D-2395-08		55582839	187616534	2	9430											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								24	58					0	0	1	0	0	T	209113112	C	T	209113112	3	4	222	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8010-01A-11D-2395-08	153530273	209113112	34086261	3	9431											
DST	667	broad.mit.edu	37	chr6	56420389	56420389	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtttattatccaagtcacTcagtttatcagaaaggcttc	12	14	7	8	0	3	1	3	0	0	1	5	2	4	1	1	1	0	3	1	1	5	6			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr6:56420389T>C	uc003pcy.4	-	40	7129	c.7021A>G	c.(7021-7023)Agt>Ggt	p.S2341G		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	4753					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCCAAGTCACTCAGTTTATCA	0.453													7	63					0	0	1	0	0	C	56420389	T	C	56420389	3	2	222	1	0	0	0	0	1	0	0	0	4783	1551	54	4	8670	4	DST	6	56420389	Missense_Mutation	SNP	T	TCGA-HT-8010-01A-11D-2395-08		56420389	114694678	4	9432											
ABP1	26	broad.mit.edu	37	chr7	150555013	150555013	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgcatgccactggctacgtCcacgccaccttctacacccc	8	8	6	19	2	1	0	0	0	1	0	2	0	2	0	6	1	4	2	6	1	2	3			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr7:150555013C>T	uc003why.1	+	2	5673	c.1455C>T	c.(1453-1455)gtC>gtT	p.V485V	ABP1_uc003whz.1_Silent_p.V485V|ABP1_uc003wia.1_Silent_p.V485V	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	485					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CTGGCTACGTCCACGCCACCT	0.552													23	83					0	0	1	0	0	T	150555013	C	T	150555013	2	4	222	1	0	0	0	0	0	0	0	1	98	842	30	3		3	ABP1	7	150555013	Silent	SNP	C	TCGA-HT-8010-01A-11D-2395-08		150555013	8583650	5	9433											
TMEM68	137695	broad.mit.edu	37	chr8	56663637	56663637	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtgagatagctaacaaGtggccactcctcagaatttc	11	10	9	11	0	1	2	1	1	0	2	3	3	2	2	3	2	2	1	3	2	4	3			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr8:56663637G>A	uc003xsg.1	-	2	642	c.573C>T	c.(571-573)caC>caT	p.H191H	TMEM68_uc003xsh.1_Silent_p.H191H	NM_152417	NP_689630	Q96MH6	TMM68_HUMAN	Homo sapiens transmembrane protein 68 (TMEM68), mRNA.	191						integral to membrane	acyltransferase activity			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			TAGCTAACAAGTGGCCACTCC	0.418													20	86					0	0	1	0	0	A	56663637	G	A	56663637	2	1	222	1	0	0	0	0	0	0	0	1	16194	1020	36	3		3	TMEM68	8	56663637	Silent	SNP	G	TCGA-HT-8010-01A-11D-2395-08		56663637	89700385	6	9434											
SLC4A8	9498	broad.mit.edu	37	chr12	51882579	51882579	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccagctcttctctgtactAtcttgatattcatggatcag	8	16	6	11	0	5	1	2	1	3	0	7	2	6	2	1	1	2	2	1	1	3	6	rs138940118		TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr12:51882579A>G	uc001rys.1	+	17	2561	c.2383A>G	c.(2383-2385)Atc>Gtc	p.I795V	SLC4A8_uc001rym.3_Missense_Mutation_p.I742V|SLC4A8_uc001ryn.3_Missense_Mutation_p.I742V|SLC4A8_uc001ryo.2_Missense_Mutation_p.I742V|SLC4A8_uc010snj.2_Missense_Mutation_p.I822V|SLC4A8_uc001ryr.3_Missense_Mutation_p.I795V	NM_001039960	NP_001035049	Q2Y0W8	S4A8_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 8 (SLC4A8), transcript variant 1, mRNA.	795					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TCTCTGTACTATCTTGATATT	0.453													6	86					0	0	1	0	0	G	51882579	A	G	51882579	3	3	222	1	0	0	0	0	1	0	0	0	14659	449	16	3	2453	3	SLC4A8	12	51882579	Missense_Mutation	SNP	A	TCGA-HT-8010-01A-11D-2395-08		51882579	81969316	7	9435											
ITGAL	3683	broad.mit.edu	37	chr16	30500576	30500576	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catctccttccctgggcaggGccatgcagtcgtgggggcag	5	8	15	13	1	1	0	0	0	1	0	4	0	2	0	3	4	1	3	3	4	0	1			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr16:30500576G>A	uc002dyi.4	+	11	1257	c.1081_splice	c.e11-1	p.G361_splice	ITGAL_uc002dyj.4_Splice_Site_p.G278_splice|ITGAL_uc010vev.2_Intron	NM_002209	NP_002200	P20701	ITAL_HUMAN	Homo sapiens integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) (ITGAL), transcript variant 1, mRNA.	361					T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CCTGGGCAGGGCCATGCAGTC	0.622													20	54					0	0	1	0	0	A	30500576	G	A	30500576	5	1	222	1	0	0	0	0	0	0	1	0	7886	1217	42	3	1124	3	ITGAL	16	30500576	Splice_Site	SNP	G	TCGA-HT-8010-01A-11D-2395-08		30500576	59854177	8	9436											
NF1	4763	broad.mit.edu	37	chr17	29556985	29556985	+	Frame_Shift_Del	DEL	C	C	-																															ttgaaacaatgatgttaaatCtggtcaggtaagcattctac																										TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr17:29556985delC	uc002hgg.3	+	21	3366	c.2983delC	c.(2983-2985)ctgfs	p.L995fs	NF1_uc002hgh.3_Frame_Shift_Del_p.L995fs|NF1_uc010csn.2_Frame_Shift_Del_p.L855fs|NF1_uc002hgi.1_Frame_Shift_Del_p.L28fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	995					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GATGTTAAATCTGGTCAGGTA	0.348			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			41	120	---	---	---	---						-	29556985	C	-	29556985	7	5	222	1	0	1	0	1	0	0	0	0	10356	912	32	0	3130	0	NF1	17	29556985	Frame_Shift_Del	DEL	C	TCGA-HT-8010-01A-11D-2395-08		29556985	51638225	9	9437											
SLC25A39	51629	broad.mit.edu	37	chr17	42400903	42400903	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatttgctggagggggcTgatgcccgcagggtcctggt	5	9	16	11	1	0	1	0	1	0	0	1	2	1	2	3	5	2	3	3	5	0	1			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr17:42400903T>C	uc002ign.2	-	1	182	c.28A>G	c.(28-30)Agc>Ggc	p.S10G	SLC25A39_uc002igm.2_Missense_Mutation_p.S10G|SLC25A39_uc010wiw.1_Missense_Mutation_p.S10G|SLC25A39_uc010wix.1_Missense_Mutation_p.S10G|SLC25A39_uc010wiy.1_Missense_Mutation_p.S10G	NM_001143780	NP_001137252	Q9BZJ4	S2539_HUMAN	Homo sapiens solute carrier family 25, member 39 (SLC25A39), transcript variant 1, mRNA.	10					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGGAGGGGGCTGATGCCCGCA	0.612													2	11					0	0	1	0	0	C	42400903	T	C	42400903	3	2	222	1	0	0	0	0	1	0	0	0	14503	1580	55	4	1095	4	SLC25A39	17	42400903	Missense_Mutation	SNP	T	TCGA-HT-8010-01A-11D-2395-08	12843918	42400903	38794307	10	9438											
FFAR3	2865	broad.mit.edu	37	chr19	35850686	35850686	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggaggttgtgtgggctctgGggccagtggcagcaggagag	7	7	21	6	0	1	1	0	0	1	1	1	3	1	2	1	7	1	4	1	7	0	1			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr19:35850686G>A	uc002nzd.3	+	1	969	c.894G>A	c.(892-894)tgG>tgA	p.W298*	FFAR3_uc021usm.1_Nonsense_Mutation_p.W298*	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA.	298						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GTGGGCTCTGGGGCCAGTGGC	0.587													7	48					0	0	1	0	0	A	35850686	G	A	35850686	4	1	222	1	0	0	0	0	0	1	0	0	5829	1241	43	3	896	3	FFAR3	19	35850686	Nonsense_Mutation	SNP	G	TCGA-HT-8010-01A-11D-2395-08		35850686	23278297	11	9439											
NKPD1	284353	broad.mit.edu	37	chr19	45655769	45655771	+	In_Frame_Del	DEL	CTG	CTG	-																															gtggggcccccaaagtccccCtgctgctgctgctgctgcag																										TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr19:45655769_45655771delCTG	uc010xxi.2	-	3	1924_1926	c.1924_1926delCAG	c.(1924-1926)cagdel	p.Q642del	NKPD1_uc021uvt.1_In_Frame_Del_p.Q420del	NM_198478	NP_940880			Homo sapiens NTPase, KAP family P-loop domain containing 1 (NKPD1), mRNA.											endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CAAAGTCCCCCTGCTGCTGCTGC	0.704													2	4	---	---	---	---						-	45655771	CTG	-	45655769	7	5	222	1	0	1	0	1	0	0	0	0	10446	680	24	0	576	0	NKPD1	19	45655769	In_Frame_Del	DEL	CTG	TCGA-HT-8010-01A-11D-2395-08	9805083	45655769	13473214	12	9440											
POFUT2	23275	broad.mit.edu	37	chr21	46685545	46685545	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgagactgaggtgccaataAaaaacctgcaaaggatcaca	17	7	9	8	0	1	2	1	2	0	1	1	4	1	3	2	2	3	1	2	2	5	2			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr21:46685545A>C	uc002zhc.3	-	8	1167	c.1142T>G	c.(1141-1143)tTt>tGt	p.F381C	POFUT2_uc002zha.3_Non-coding_Transcript|POFUT2_uc002zhb.3_Non-coding_Transcript|POFUT2_uc002zhd.3_3'UTR	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN	Homo sapiens protein O-fucosyltransferase 2 (POFUT2), transcript variant 3, mRNA.	381					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		GGTGCCAATAAAAAACCTGCA	0.498													12	28					0	0	1	0	0	C	46685545	A	C	46685545	3	2	222	1	0	0	0	0	1	0	0	0	12184	14	1	5	151	5	POFUT2	21	46685545	Missense_Mutation	SNP	A	TCGA-HT-8010-01A-11D-2395-08		46685545	1444350	13	9441											
MFNG	4242	broad.mit.edu	37	chr22	37882152	37882152	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagtggtaccgcagacacaGgagccccatgcacaggaggg	12	3	14	12	1	0	1	0	0	0	1	0	3	0	3	3	4	3	3	3	4	2	1			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr22:37882152G>A	uc003ass.2	-	0	327	c.64C>T	c.(64-66)Ctg>Ttg	p.L22L	MFNG_uc011anj.2_Silent_p.L22L|MFNG_uc011ani.2_5'UTR|CARD10_uc003ast.1_Intron	NM_002405	NP_002396	O00587	MFNG_HUMAN	Homo sapiens MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (MFNG), transcript variant 1, mRNA.	22					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					CGCAGACACAGGAGCCCCATG	0.682													9	41					0	0	1	0	0	A	37882152	G	A	37882152	2	1	222	1	0	0	0	0	0	0	0	1	9525	991	35	3		3	MFNG	22	37882152	Silent	SNP	G	TCGA-HT-8010-01A-11D-2395-08		37882152	13422414	14	9442											
PHF16	9767	broad.mit.edu	37	chrX	46884202	46884202	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgctccagcccagacaccAcagagcctggctacatcaac	12	5	7	17	0	1	2	1	0	0	2	2	2	2	2	4	1	5	2	4	1	2	1			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chrX:46884202A>G	uc004dgx.3	+	4	412	c.361A>G	c.(361-363)Aca>Gca	p.T121A	PHF16_uc004dgy.3_Missense_Mutation_p.T121A	NM_001077445	NP_055550	Q92613	JADE3_HUMAN	Homo sapiens PHD finger protein 16 (PHF16), transcript variant 2, mRNA.	121					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						CCCAGACACCACAGAGCCTGG	0.463													19	56					0	0	1	0	0	G	46884202	A	G	46884202	3	3	222	1	0	0	0	0	1	0	0	0	11827	159	6	3	375	3	PHF16	23	46884202	Missense_Mutation	SNP	A	TCGA-HT-8010-01A-11D-2395-08		46884202	108386358	15	9443											
USP11	8237	broad.mit.edu	37	chrX	47101902	47101902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggctctgtccaaacacaCgggcatctcgccagagaggg	9	7	13	12	2	2	1	0	0	2	1	4	2	3	1	2	3	1	2	2	3	1	0			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chrX:47101902C>T	uc004dhp.3	+	10	1598	c.1598C>T	c.(1597-1599)aCg>aTg	p.T533M	USP11_uc004dhq.3_Missense_Mutation_p.T260M	NM_004651	NP_004642	P51784	UBP11_HUMAN	Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.	533					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						TCCAAACACACGGGCATCTCG	0.567													12	45					0	0	1	0	0	T	47101902	C	T	47101902	3	4	222	1	0	0	0	0	1	0	0	0	17039	536	19	1	1640	1	USP11	23	47101902	Missense_Mutation	SNP	C	TCGA-HT-8010-01A-11D-2395-08	217700	47101902	108168658	16	9444											
ZNF182	7569	broad.mit.edu	37	chrX	47836606	47836606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgaaggcttttccacattCaggacactcaaagggtctct	10	12	8	11	0	4	1	2	1	2	0	6	2	5	2	1	3	0	1	1	3	2	3			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chrX:47836606C>T	uc004dir.3	-	6	1226	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	ZNF182_uc004dis.3_Missense_Mutation_p.E275K|ZNF182_uc004dit.3_Missense_Mutation_p.E294K	NM_006962	NP_008893	P17025	ZN182_HUMAN	Homo sapiens zinc finger protein 182 (ZNF182), transcript variant 1, mRNA.	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TTTCCACATTCAGGACACTCA	0.398													36	87					0	0	1	0	0	T	47836606	C	T	47836606	3	4	222	1	0	0	0	0	1	0	0	0	17747	835	29	3	1043	3	ZNF182	23	47836606	Missense_Mutation	SNP	C	TCGA-HT-8010-01A-11D-2395-08	734704	47836606	107433954	17	9445											
ATP11C	286410	broad.mit.edu	37	chrX	138886675	138886675	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgtagtgacataacaGgttccatcagtggtgcaaga	11	10	12	8	0	1	2	1	1	0	1	2	2	2	2	1	3	2	4	1	3	3	3			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chrX:138886675G>C	uc004faz.3	-	5	618	c.519C>G	c.(517-519)acC>acG	p.T173T	ATP11C_uc004fba.3_Silent_p.T173T	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	173					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TGACATAACAGGTTCCATCAG	0.393													74	182					0	0	1	0	0	C	138886675	G	C	138886675	2	2	222	1	0	0	0	0	0	0	0	1	1121	987	35	5		5	ATP11C	23	138886675	Silent	SNP	G	TCGA-HT-8010-01A-11D-2395-08	91050069	138886675	16383885	18	9446											
KIAA0090	23065	broad.mit.edu	37	chr1	19563721	19563721	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccttcttcaagaacacCtggatatacagctataagcc	13	11	5	12	0	3	1	2	0	1	1	4	2	4	2	3	1	4	1	3	1	6	6			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr1:19563721C>T	uc001bbo.3	-	11	1267	c.1224G>A	c.(1222-1224)caG>caA	p.Q408Q	KIAA0090_uc001bbp.3_Silent_p.Q408Q|KIAA0090_uc001bbq.3_Silent_p.Q407Q|KIAA0090_uc001bbr.3_Silent_p.Q386Q	NM_015047	NP_055862	Q8N766	K0090_HUMAN	Homo sapiens KIAA0090 (KIAA0090), mRNA.	408						integral to membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	25		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		TCAAGAACACCTGGATATACA	0.502													44	81					0	0	1	0	0	T	19563721	C	T	19563721	2	4	223	1	0	0	0	0	0	0	0	1	8153	680	24	3		3	KIAA0090	1	19563721	Silent	SNP	C	TCGA-HT-8011-01A-11D-2395-08		19563721	229686900	1	9447											
WDR63	126820	broad.mit.edu	37	chr1	85551533	85551533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gattacatatatgatttctcGaaaacgaagtgaatttggtg	14	14	9	4	2	1	2	0	2	1	0	2	5	1	2	0	1	2	0	0	1	7	5			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr1:85551533G>A	uc001dkt.3	+	6	751	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	WDR63_uc009wcl.3_Missense_Mutation_p.R187Q	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	187										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		ATGATTTCTCGAAAACGAAGT	0.373													12	7					0	0	1	0	0	A	85551533	G	A	85551533	3	1	223	1	0	0	0	0	1	0	0	0	17311	1058	37	2	582	2	WDR63	1	85551533	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08	65987812	85551533	163699088	2	9448											
AGL	178	broad.mit.edu	37	chr1	100361871	100361871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttcttctggtattttcCgctgctggggaagggatact	6	17	11	7	1	2	0	0	0	2	0	3	2	3	2	1	4	2	3	1	4	3	7			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr1:100361871C>T	uc001dsi.1	+	24	3689	c.3289C>T	c.(3289-3291)Cgc>Tgc	p.R1097C	AGL_uc001dsj.1_Missense_Mutation_p.R1097C|AGL_uc001dsk.1_Missense_Mutation_p.R1097C|AGL_uc001dsl.1_Missense_Mutation_p.R1097C|AGL_uc001dsm.1_Missense_Mutation_p.R1081C|AGL_uc001dsn.1_Missense_Mutation_p.R1080C	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	1097					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGGTATTTTCCGCTGCTGGGG	0.373													29	44					0	0	1	0	0	T	100361871	C	T	100361871	3	4	223	1	0	0	0	0	1	0	0	0	384	652	23	2	3452	2	AGL	1	100361871	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08	14810338	100361871	148888750	3	9449											
OR2M7	391196	broad.mit.edu	37	chr1	248487786	248487786	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagatggccaggaccagaaAgaagaggaaggtgtgggtgg	15	4	18	4	0	0	4	0	0	0	4	0	6	0	6	2	6	0	0	2	6	4	0			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr1:248487786A>T	uc010pzk.2	-	0	85	c.85T>A	c.(85-87)Ttt>Att	p.F29I		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGACCAGAAAGAAGAGGAAG	0.502													106	126					0	0	1	0	0	T	248487786	A	T	248487786	3	4	223	1	0	0	0	0	1	0	0	0	11014	72	3	5	856	5	OR2M7	1	248487786	Missense_Mutation	SNP	A	TCGA-HT-8011-01A-11D-2395-08	148125915	248487786	762835	4	9450											
QPCT	25797	broad.mit.edu	37	chr2	37594451	37594451	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaggcttttcttcactggtCtcctcaagattctctctatg	7	16	7	11	0	6	2	2	0	4	2	8	2	6	2	1	2	0	1	1	2	2	5			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr2:37594451C>G	uc002rqg.3	+	3	745	c.623C>G	c.(622-624)tCt>tGt	p.S208C		NM_012413	NP_036545	Q16769	QPCT_HUMAN	Homo sapiens glutaminyl-peptide cyclotransferase (QPCT), mRNA.	208					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding	p.W207*(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				CTTCACTGGTCTCCTCAAGAT	0.488													28	46					0	0	1	0	0	G	37594451	C	G	37594451	3	3	223	1	0	0	0	0	1	0	0	0	12874	913	32	5	637	5	QPCT	2	37594451	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08		37594451	205604922	5	9451											
COL6A3	1293	broad.mit.edu	37	chr2	238249144	238249144	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcgcatcaaaggctcctcGttgagctcggtggacttgtc	8	10	12	11	3	1	1	1	1	0	0	5	2	2	2	1	3	2	4	1	3	2	2			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr2:238249144G>A	uc002vwl.2	-	37	8700	c.8415C>T	c.(8413-8415)aaC>aaT	p.N2805N	COL6A3_uc002vwo.2_Silent_p.N2599N|COL6A3_uc010znj.1_Silent_p.N2198N|COL6A3_uc002vwj.2_Silent_p.N186N	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2805	Nonhelical region.|VWFA 12.		N -> T (in dbSNP:rs35848091).		axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAGGCTCCTCGTTGAGCTCGG	0.557													34	47					0	0	1	0	0	A	238249144	G	A	238249144	2	1	223	1	0	0	0	0	0	0	0	1	3701	1136	40	1		1	COL6A3	2	238249144	Silent	SNP	G	TCGA-HT-8011-01A-11D-2395-08	200654693	238249144	4950229	6	9452											
KCNH8	131096	broad.mit.edu	37	chr3	19575087	19575087	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctacacttgcaaacaggCggggctgcttatacccaagc	10	8	10	13	1	0	0	0	0	0	0	0	0	0	0	2	3	7	3	2	3	5	4	rs151258565	by1000genomes	TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr3:19575087C>T	uc003cbk.1	+	15	3015	c.2820C>T	c.(2818-2820)ggC>ggT	p.G940G	KCNH8_uc010hex.1_Silent_p.G401G	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	940						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TGCAAACAGGCGGGGCTGCTT	0.542													33	44					0	0	1	0	0	T	19575087	C	T	19575087	2	4	223	1	0	0	0	0	0	0	0	1	8038	755	27	1		1	KCNH8	3	19575087	Silent	SNP	C	TCGA-HT-8011-01A-11D-2395-08		19575087	178447343	7	9453											
PLD1	5337	broad.mit.edu	37	chr3	171330202	171330202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgctttcccagcatgctgcGgtcatttatgttggcagagc	7	12	11	11	2	1	1	1	0	0	1	2	1	2	1	1	2	4	5	1	2	1	4			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr3:171330202G>A	uc003fhs.3	-	24	3096	c.2749C>T	c.(2749-2751)Cgc>Tgc	p.R917C	PLD1_uc003fht.3_Missense_Mutation_p.R879C|PLD1_uc003fhu.4_Missense_Mutation_p.R211C	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	917	Catalytic.|PLD phosphodiesterase 2.				Ras protein signal transduction|cell communication|chemotaxis	Golgi membrane|endoplasmic reticulum membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	AGCATGCTGCGGTCATTTATG	0.493													7	49					0	0	1	0	0	A	171330202	G	A	171330202	3	1	223	1	0	0	0	0	1	0	0	0	12045	1116	39	2	487	2	PLD1	3	171330202	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08	151755115	171330202	26692228	8	9454											
QDPR	5860	broad.mit.edu	37	chr4	17513644	17513644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgccgtacaccagcacccGgcgcgcctcgcctgcagccg	5	3	12	21	7	0	0	0	0	0	0	1	0	0	0	7	1	4	3	7	1	1	1			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr4:17513644G>A	uc003gpd.3	-	0	214	c.34C>T	c.(34-36)Cgg>Tgg	p.R12W	QDPR_uc021xmo.1_Non-coding_Transcript|QDPR_uc003gpe.3_Missense_Mutation_p.R12W	NM_000320	NP_000311	P09417	DHPR_HUMAN	Homo sapiens quinoid dihydropteridine reductase (QDPR), mRNA.	12					L-phenylalanine catabolic process|dihydrobiopterin metabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13					NADH(DB00157)	ACCAGCACCCGGCGCGCCTCG	0.756													19	19					0	0	1	0	0	A	17513644	G	A	17513644	3	1	223	1	0	0	0	0	1	0	0	0	12872	1115	39	2	728	2	QDPR	4	17513644	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08		17513644	173640632	9	9455											
TECRL	253017	broad.mit.edu	37	chr4	65180375	65180375	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatcacttactgtaccactGggtggcgtaatcttctagca	9	13	9	10	1	3	0	1	0	2	0	3	0	3	0	1	2	3	4	1	2	5	6			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr4:65180375G>T	uc003hcv.3	-	4	651	c.542C>A	c.(541-543)cCa>cAa	p.P181Q	TECRL_uc003hcw.3_Missense_Mutation_p.P181Q	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase-like (TECRL), mRNA.	181					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CTGTACCACTGGGTGGCGTAA	0.438													7	18					0.00198382	0.00203892	1	1	0	T	65180375	G	T	65180375	3	4	223	1	0	0	0	0	1	0	0	0	15743	1348	47	5	581	5	TECRL	4	65180375	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08	47666731	65180375	125973901	10	9456											
CSN3	1448	broad.mit.edu	37	chr4	71114862	71114862	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatccatatgtgcctcgcAcatattatgcaaacccagct	13	11	5	12	1	0	0	0	0	0	0	2	0	1	0	3	0	4	3	3	0	5	4			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr4:71114862A>G	uc003hfe.4	+	3	293	c.235A>G	c.(235-237)Aca>Gca	p.T79A		NM_005212	NP_005203	P07498	CASK_HUMAN	Homo sapiens casein kappa (CSN3), mRNA.	79						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TGTGCCTCGCACATATTATGC	0.448													29	33					0	0	1	0	0	G	71114862	A	G	71114862	3	3	223	1	0	0	0	0	1	0	0	0	3949	159	6	3	245	3	CSN3	4	71114862	Missense_Mutation	SNP	A	TCGA-HT-8011-01A-11D-2395-08	5934487	71114862	120039414	11	9457											
BTC	685	broad.mit.edu	37	chr4	75673309	75673309	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagttatatctttacccagaGtttccatttcttcttctttc	7	20	4	10	0	4	1	0	0	4	1	6	2	5	1	2	0	1	2	2	0	3	9			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr4:75673309G>T	uc003hig.2	-	4	826	c.479C>A	c.(478-480)aCt>aAt	p.T160N		NM_001729	NP_001720	P35070	BTC_HUMAN	Homo sapiens betacellulin (BTC), mRNA.	160					positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity	p.E159K(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			TTTACCCAGAGTTTCCATTTC	0.353													7	13					8.12818e-05	8.47163e-05	1	1	0	T	75673309	G	T	75673309	3	4	223	1	0	0	0	0	1	0	0	0	1549	1029	36	5	61	5	BTC	4	75673309	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08	4558447	75673309	115480967	12	9458											
PPEF2	5470	broad.mit.edu	37	chr4	76787356	76787356	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgttacctcgcgactcagttGttccttggccaagttcttca	6	14	8	13	3	3	0	2	0	1	0	5	1	4	0	3	1	1	4	3	1	2	6			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr4:76787356G>T	uc003hix.3	-	14	2263	c.1906C>A	c.(1906-1908)Caa>Aaa	p.Q636K	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_3'UTR	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	636					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	Hsp70 protein binding|Hsp90 protein binding|calcium ion binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CGACTCAGTTGTTCCTTGGCC	0.493													65	85					1.05635e-38	1.24079e-38	1	1	0	T	76787356	G	T	76787356	3	4	223	1	0	0	0	0	1	0	0	0	12308	1386	48	5	367	5	PPEF2	4	76787356	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08	1114047	76787356	114366920	13	9459											
RAP1GDS1	5910	broad.mit.edu	37	chr4	99300314	99300314	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaactatagcaatgagaatGgtaaacaaaactgaaaactt	20	9	7	5	0	0	3	0	3	0	1	0	4	0	3	0	1	5	2	0	1	11	4			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr4:99300314G>A	uc003htw.4	+	5	701	c.511_splice	c.e5+1	p.D171_splice	RAP1GDS1_uc003htx.4_Splice_Site_p.D170_splice|RAP1GDS1_uc003htv.4_Splice_Site_p.D171_splice|RAP1GDS1_uc003htz.4_Intron|RAP1GDS1_uc003hty.4_Intron|RAP1GDS1_uc003hua.4_Intron	NM_001100426	NP_001093896	P52306	GDS1_HUMAN	Homo sapiens RAP1, GTP-GDP dissociation stimulator 1 (RAP1GDS1), transcript variant 1, mRNA.	170							GTPase activator activity|binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		CAATGAGAATGGTAAACAAAA	0.333			T	NUP98	T-ALL								23	50					0	0	1	0	0	A	99300314	G	A	99300314	5	1	223	1	0	0	0	0	0	0	1	0	13039	1362	47	3	529	3	RAP1GDS1	4	99300314	Splice_Site	SNP	G	TCGA-HT-8011-01A-11D-2395-08	22512958	99300314	91853962	14	9460											
SPEF2	79925	broad.mit.edu	37	chr5	35692734	35692734	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagctatccaagcatttcatGacaatgaaaaagtcagtgag	17	9	8	7	0	2	3	2	3	0	0	3	3	3	3	1	0	2	2	1	0	6	2			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr5:35692734G>A	uc003jjo.3	+	11	1918	c.1807G>A	c.(1807-1809)Gac>Aac	p.D603N	SPEF2_uc003jjq.4_Missense_Mutation_p.D603N|SPEF2_uc003jjp.1_Missense_Mutation_p.D94N	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	603					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCATTTCATGACAATGAAAA	0.343													27	34					0	0	1	0	0	A	35692734	G	A	35692734	3	1	223	1	0	0	0	0	1	0	0	0	15034	1290	45	3	1874	3	SPEF2	5	35692734	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08		35692734	145222526	15	9461											
FAT2	2196	broad.mit.edu	37	chr5	150948306	150948306	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcccactgtggctccgCgaggtagatgcccattttct	6	11	10	14	2	1	1	0	0	1	1	2	2	2	1	3	2	2	2	3	2	1	3			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr5:150948306C>T	uc003lue.4	-	0	200	c.187G>A	c.(187-189)Gcg>Acg	p.A63T	FAT2_uc010jhx.1_Missense_Mutation_p.A63T	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	63	Cadherin 1.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTGGCTCCGCGAGGTAGATG	0.493													56	105					0	0	1	0	0	T	150948306	C	T	150948306	3	4	223	1	0	0	0	0	1	0	0	0	5690	768	27	1	12954	1	FAT2	5	150948306	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08	115255572	150948306	29966954	16	9462											
TNRC18	84629	broad.mit.edu	37	chr7	5372548	5372548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctggggtcgggaccgCgggcgccaggcgtgggtgcg	2	5	23	11	6	0	0	0	0	0	0	1	1	0	1	2	7	2	2	2	7	0	0			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr7:5372548C>T	uc003soi.4	-	18	6201	c.5852G>A	c.(5851-5853)cGc>cAc	p.R1951H		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	1951							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GTCGGGACCGCGGGCGCCAGG	0.751													6	21					0	0	1	0	0	T	5372548	C	T	5372548	3	4	223	1	0	0	0	0	1	0	0	0	16336	768	27	1	3102	1	TNRC18	7	5372548	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08		5372548	153766115	17	9463											
VWC2	375567	broad.mit.edu	37	chr7	49842318	49842318	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtttcaggtgtctccatgCgagaggtgtcgctgtgaagc	6	12	15	8	2	2	2	1	1	1	1	4	3	2	2	1	2	2	2	1	2	1	1			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr7:49842318C>T	uc003tot.1	+	2	1264	c.708C>T	c.(706-708)tgC>tgT	p.C236C		NM_198570	NP_940972	Q2TAL6	VWC2_HUMAN	Homo sapiens von Willebrand factor C domain containing 2 (VWC2), mRNA.	236	VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						TGTCTCCATGCGAGAGGTGTC	0.507													33	181					0	0	1	0	0	T	49842318	C	T	49842318	2	4	223	1	0	0	0	0	0	0	0	1	17240	776	27	1		1	VWC2	7	49842318	Silent	SNP	C	TCGA-HT-8011-01A-11D-2395-08	44469770	49842318	109296345	18	9464											
COBL	23242	broad.mit.edu	37	chr7	51097053	51097053	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgctcagcttgaagtggCgccagggagtctctcctgct	5	11	13	12	1	2	1	1	1	1	0	4	2	3	2	2	2	3	3	2	2	1	1			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr7:51097053C>T	uc003tps.3	-	10	2096	c.1911G>A	c.(1909-1911)gcG>gcA	p.A637A	COBL_uc003tpr.4_Silent_p.A580A|COBL_uc011kcl.2_Silent_p.A580A|COBL_uc003tpp.4_Silent_p.A366A|COBL_uc003tpq.4_Silent_p.A521A|COBL_uc003tpo.4_Silent_p.A122A	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	580										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTTGAAGTGGCGCCAGGGAGT	0.552													19	61					0	0	1	0	0	T	51097053	C	T	51097053	2	4	223	1	0	0	0	0	0	0	0	1	3653	755	27	1		1	COBL	7	51097053	Silent	SNP	C	TCGA-HT-8011-01A-11D-2395-08	1254735	51097053	108041610	19	9465											
ZNF679	168417	broad.mit.edu	37	chr7	63726330	63726330	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctaggcataaaagattcaCtccaaaaagtaataccaaga	20	7	6	8	0	1	2	1	0	0	2	2	2	2	2	2	1	2	3	2	1	8	5			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr7:63726330C>G	uc003tsx.3	+	4	588	c.319C>G	c.(319-321)Ctc>Gtc	p.L107V		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						AAAAGATTCACTCCAAAAAGT	0.378													8	17					0	0	1	0	0	G	63726330	C	G	63726330	3	3	223	1	0	0	0	0	1	0	0	0	18083	565	20	5	333	5	ZNF679	7	63726330	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08	12629277	63726330	95412333	20	9466											
DLC1	10395	broad.mit.edu	37	chr8	12957837	12957837	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcttcaggctctccatcCgtttcagcagactgcgcgtc	6	11	10	14	3	3	2	2	1	1	1	6	2	4	2	2	1	3	4	2	1	0	2			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr8:12957837C>G	uc003wwm.2	-	8	2453	c.2009G>C	c.(2008-2010)cGg>cCg	p.R670P	DLC1_uc003wwk.1_Missense_Mutation_p.R233P|DLC1_uc003wwl.1_Missense_Mutation_p.R267P|DLC1_uc011kxx.1_Missense_Mutation_p.R159P	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	670					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTCTCCATCCGTTTCAGCAG	0.562													105	88					0	0	1	0	0	G	12957837	C	G	12957837	3	3	223	1	0	0	0	0	1	0	0	0	4550	652	23	5	2617	5	DLC1	8	12957837	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08		12957837	133406185	21	9467											
DOCK8	81704	broad.mit.edu	37	chr9	463659	463659	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaattccagaactgtacaagCcaatattcagagttgagagt	16	10	8	7	0	1	3	1	1	0	3	2	4	2	3	2	0	3	2	2	0	6	5			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr9:463659C>A	uc003zgf.2	+	46	6323	c.6211C>A	c.(6211-6213)Cca>Aca	p.P2071T	DOCK8_uc022bcu.1_Missense_Mutation_p.P2003T|DOCK8_uc010mgv.3_Missense_Mutation_p.P1971T|DOCK8_uc010mgu.3_Missense_Mutation_p.P1373T|DOCK8_uc003zgk.2_Missense_Mutation_p.P1529T	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	2071					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ACTGTACAAGCCAATATTCAG	0.478													4	29					0.00909568	0.00922028	1	1	0	A	463659	C	A	463659	3	1	223	1	0	0	0	0	1	0	0	0	4693	739	26	5	6397	5	DOCK8	9	463659	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08		463659	140749772	22	9468											
RRAGA	10670	broad.mit.edu	37	chr9	19049841	19049841	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acctggtgctgaacctgtggGactgtggcggtcaggacacc	7	8	15	11	1	1	1	1	1	0	0	1	3	1	3	3	5	2	1	3	5	1	0			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr9:19049841G>T	uc003znj.3	+	0	470	c.184G>T	c.(184-186)Gac>Tac	p.D62Y		NM_006570	NP_006561	Q7L523	RRAGA_HUMAN	Homo sapiens Ras-related GTP binding A (RRAGA), mRNA.	62					apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|positive regulation of cytolysis|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(1)	3						GAACCTGTGGGACTGTGGCGG	0.542													16	7					1.99824e-07	2.24045e-07	1	1	0	T	19049841	G	T	19049841	3	4	223	1	0	0	0	0	1	0	0	0	13672	1174	41	5	186	5	RRAGA	9	19049841	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08	18586182	19049841	122163590	23	9469											
RUSC2	9853	broad.mit.edu	37	chr9	35560371	35560371	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagaggaagaggaagaagAggagacagaagaggtggcag	19	1	19	2	0	0	8	0	0	0	8	0	11	0	10	0	5	0	1	0	5	5	0			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr9:35560371A>T	uc003zww.3	+	9	3989	c.3734A>T	c.(3733-3735)gAg>gTg	p.E1245V	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Missense_Mutation_p.E1245V	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	1245	Poly-Glu.					cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			gaggaagaagaggagacagaa	0.682													24	35					0	0	1	0	0	T	35560371	A	T	35560371	3	4	223	1	0	0	0	0	1	0	0	0	13751	304	11	5	3768	5	RUSC2	9	35560371	Missense_Mutation	SNP	A	TCGA-HT-8011-01A-11D-2395-08	16510530	35560371	105653060	24	9470											
OR13C3	138803	broad.mit.edu	37	chr9	107298219	107298219	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaatcaggtcttgagacttCggtttcgcatacataaagaa	13	11	8	9	2	2	2	1	1	1	2	4	3	2	2	1	2	1	2	1	2	5	5	rs145221004		TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr9:107298219C>T	uc004bcb.1	-	0	876	c.876G>A	c.(874-876)ccG>ccA	p.P292P		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						CTTGAGACTTCGGTTTCGCAT	0.438													39	68					0	0	1	0	0	T	107298219	C	T	107298219	2	4	223	1	0	0	0	0	0	0	0	1	10935	871	31	2		2	OR13C3	9	107298219	Silent	SNP	C	TCGA-HT-8011-01A-11D-2395-08	71737848	107298219	33915212	25	9471											
ANK3	288	broad.mit.edu	37	chr10	61835813	61835813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgccagcccttttaagggcGtagcttccgtgactgctgga	7	11	12	11	2	0	1	0	1	0	0	1	2	1	2	3	2	4	3	3	2	2	4	rs148024054	byFrequency	TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr10:61835813G>A	uc001jky.3	-	36	5164	c.4826C>T	c.(4825-4827)aCg>aTg	p.T1609M	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1609	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTTAAGGGCGTAGCTTCCGT	0.473													52	22					0	0	1	0	0	A	61835813	G	A	61835813	3	1	223	1	0	0	0	0	1	0	0	0	622	1145	40	1	8648	1	ANK3	10	61835813	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08		61835813	73698934	26	9472											
CDHR1	92211	broad.mit.edu	37	chr10	85970774	85970774	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagctcctggctgttgaagtGaacaccccagagaagttcag	11	8	11	11	0	1	3	1	2	0	1	2	4	2	3	3	1	2	4	3	1	3	2			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr10:85970774G>A	uc001kcv.3	+	12	1443	c.1338G>A	c.(1336-1338)gtG>gtA	p.V446V	CDHR1_uc001kcw.3_Silent_p.V446V|CDHR1_uc009xst.3_Intron|CDHR1_uc001kcx.3_5'Flank	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	446	Cadherin 4.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CTGTTGAAGTGAACACCCCAG	0.552													5	112					0	0	1	0	0	A	85970774	G	A	85970774	2	1	223	1	0	0	0	0	0	0	0	1	3118	1277	45	3		3	CDHR1	10	85970774	Silent	SNP	G	TCGA-HT-8011-01A-11D-2395-08	24134961	85970774	49563973	27	9473											
PTEN	5728	broad.mit.edu	37	chr10	89685307	89685307	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataaaaaccattacaagataTacaatctgtaagtatgtttt	18	14	4	5	0	1	1	0	0	1	1	1	1	1	1	1	0	3	3	1	0	10	8			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr10:89685307T>C	uc001kfb.3	+	2	1234	c.202T>C	c.(202-204)Tac>Cac	p.Y68H	PTEN_uc021pvw.1_Intron	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	68	Phosphatase tensin-type.		Y -> H (in CD and BZS; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains the ability to bind phospholipid membranes).		T cell receptor signaling pathway|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 G1/S transition of mitotic cell cycle|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 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	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion 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.0?(37)|p.Y68H(16)|p.?(6)|p.R55fs*1(5)|p.Y68N(4)|p.Y68fs*5(4)|p.Y68C(2)|p.Y27fs*1(2)|p.I67_Y68insY(2)|p.Y27_N212>Y(2)|p.R55_L70>S(2)|p.I67K(1)|p.I67T(1)|p.Y68*(1)|p.I67del(1)|p.V54fs*29(1)|p.I67R(1)|p.F56fs*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)		TTACAAGATATACAATCTGTA	0.274		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)			2	2					0	0	1	0	0	C	89685307	T	C	89685307	3	2	223	1	0	0	0	0	1	0	0	0	12738	1406	49	3	212	3	PTEN	10	89685307	Missense_Mutation	SNP	T	TCGA-HT-8011-01A-11D-2395-08	3714533	89685307	45849440	28	9474											
HBD	3045	broad.mit.edu	37	chr11	5255603	5255603	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccaccaactgcatccaCgttcactttgccccacaggg	9	8	6	18	1	2	0	2	0	0	0	3	0	3	0	5	1	3	2	5	1	1	2			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr11:5255603C>T	uc001maf.1	-	0	256	c.61G>A	c.(61-63)Gtg>Atg	p.V21M		NM_000519	NP_000510	P02042	HBD_HUMAN	Homo sapiens hemoglobin, delta (HBD), mRNA.	21			V -> E (in Roosevelt; dbSNP:rs34093840).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGCATCCACGTTCACTTTG	0.507													19	37					0	0	1	0	0	T	5255603	C	T	5255603	3	4	223	1	0	0	0	0	1	0	0	0	6979	536	19	1	394	1	HBD	11	5255603	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08		5255603	129750913	29	9475											
OR5M1	390168	broad.mit.edu	37	chr11	56380663	56380663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactcagtgatcaccagggCgatgaagagaagacactgtg	15	6	12	8	1	2	4	2	2	0	2	2	6	2	4	1	1	1	0	1	1	3	0			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr11:56380663C>T	uc001nja.1	-	0	316	c.316G>A	c.(316-318)Gcc>Acc	p.A106T	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A106T(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						ATCACCAGGGCGATGAAGAGA	0.448													20	30					0	0	1	0	0	T	56380663	C	T	56380663	3	4	223	1	0	0	0	0	1	0	0	0	11172	768	27	1	635	1	OR5M1	11	56380663	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08	51125060	56380663	78625853	30	9476											
TUBA3C	7278	broad.mit.edu	37	chr13	19752430	19752430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtcgacgatctccttgcCgatggtgtaatggcctctgg	6	11	13	11	3	2	0	0	0	2	0	4	3	2	0	3	4	1	1	3	4	1	2	rs140107190		TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr13:19752430C>T	uc009zzj.3	-	2	436	c.331G>A	c.(331-333)Ggc>Agc	p.G111S		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	111					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.G111V(2)|p.G111S(2)|p.I110I(2)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ATCTCCTTGCCGATGGTGTAA	0.542													50	86					0	0	1	0	0	T	19752430	C	T	19752430	3	4	223	1	0	0	0	0	1	0	0	0	16743	652	23	2	1033	2	TUBA3C	13	19752430	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08		19752430	95417448	31	9477											
TMEM229B	161145	broad.mit.edu	37	chr14	67940541	67940541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccagttcaagttcaccaCgaactcccaggccgctgtga	9	9	8	15	2	2	1	2	1	0	0	4	2	4	1	4	1	1	3	4	1	2	3			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr14:67940541C>T	uc001xjk.3	-	2	510	c.100G>A	c.(100-102)Gtg>Atg	p.V34M	TMEM229B_uc001xjj.1_Non-coding_Transcript|TMEM229B_uc021rvb.1_Missense_Mutation_p.V34M	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN	Homo sapiens transmembrane protein 229B (TMEM229B), mRNA.	34						integral to membrane		p.F33F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AAGTTCACCACGAACTCCCAG	0.617													13	14					0	0	1	0	0	T	67940541	C	T	67940541	3	4	223	1	0	0	0	0	1	0	0	0	16145	536	19	1	407	1	TMEM229B	14	67940541	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08		67940541	39408999	32	9478											
LTBP2	4053	broad.mit.edu	37	chr14	75022287	75022287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggtcccgggggcagggCgttggaagagagctggctac	6	6	19	10	2	0	1	0	0	0	1	1	3	1	2	2	6	2	4	2	6	2	2			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr14:75022287C>T	uc001xqa.3	-	3	1327	c.940G>A	c.(940-942)Gcc>Acc	p.A314T		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	314					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGGGGCAGGGCGTTGGAAGAG	0.652													10	109					0	0	1	0	0	T	75022287	C	T	75022287	3	4	223	1	0	0	0	0	1	0	0	0	9074	768	27	1	4657	1	LTBP2	14	75022287	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08	7081746	75022287	32327253	33	9479											
ESRRB	2103	broad.mit.edu	37	chr14	76905888	76905888	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccacccatgtttgcaggCgccgggctgggaggcacccc	5	6	14	16	3	0	0	0	0	0	0	1	1	0	1	5	4	1	4	5	4	0	1			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr14:76905888C>T	uc001xsr.3	+	3	563	c.192C>T	c.(190-192)ggC>ggT	p.G64G	ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Silent_p.G64G	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.	64						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TGTTTGCAGGCGCCGGGCTGG	0.677													20	53					0	0	1	0	0	T	76905888	C	T	76905888	2	4	223	1	0	0	0	0	0	0	0	1	5261	755	27	1		1	ESRRB	14	76905888	Silent	SNP	C	TCGA-HT-8011-01A-11D-2395-08	1883601	76905888	30443652	34	9480											
TCF12	6938	broad.mit.edu	37	chr15	57554314	57554315	+	Frame_Shift_Ins	INS	-	-	T																															ggaactcatcgggaagactcINStgtcagtctcaatggcaatc																										TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr15:57554314_57554315insT	uc002aec.3	+	15	1702_1703	c.1418_1419insT	c.(1417-1419)tctfs	p.S473fs	TCF12_uc010ugm.1_Frame_Shift_Ins_p.S525fs|TCF12_uc010ugn.1_Frame_Shift_Ins_p.S493fs|TCF12_uc002aea.3_Frame_Shift_Ins_p.S497fs|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Frame_Shift_Ins_p.S497fs|TCF12_uc002aed.3_Frame_Shift_Ins_p.S473fs|TCF12_uc010ugo.2_Frame_Shift_Ins_p.S237fs|TCF12_uc002aee.3_Frame_Shift_Ins_p.S303fs|TCF12_uc010bft.3_Frame_Shift_Ins_p.S327fs|TCF12_uc010ugp.2_Frame_Shift_Ins_p.S131fs|TCF12_uc010ugq.2_Frame_Shift_Ins_p.S107fs|TCF12_uc010ugr.1_Frame_Shift_Ins_p.S86fs	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	473					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.S497fs*12(1)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CGGGAAGACTCTGTCAGTCTCA	0.351			T	TEC	extraskeletal myxoid chondrosarcoma								6	10	---	---	---	---						T	57554315	-	T	57554314	7	5	223	1	0	1	1	0	0	0	0	0	15684	913	32	0	1625	0	TCF12	15	57554314	Frame_Shift_Ins	INS	-	TCGA-HT-8011-01A-11D-2395-08		57554314	44977078	35	9481											
HS3ST6	64711	broad.mit.edu	37	chr16	1962140	1962140	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcggcggggggcctctcgCgtcacgaagtagctgggggt	5	7	19	10	5	2	0	1	0	1	0	3	1	2	0	1	6	2	2	1	6	2	1			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr16:1962140C>T	uc002cnf.3	-	1	387	c.387G>A	c.(385-387)acG>acA	p.T129T	TCRBV20S1_uc021tak.1_Intron	NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 6 (HS3ST6), mRNA.	129										endometrium(2)|lung(2)	4						GGGCCTCTCGCGTCACGAAGT	0.672													17	23					0	0	1	0	0	T	1962140	C	T	1962140	2	4	223	1	0	0	0	0	0	0	0	1	7369	755	27	1		1	HS3ST6	16	1962140	Silent	SNP	C	TCGA-HT-8011-01A-11D-2395-08		1962140	88392613	36	9482											
CREBBP	1387	broad.mit.edu	37	chr16	3828795	3828795	+	Frame_Shift_Del	DEL	G	G	-																															cctttagagctgcgggatcaGgtgttgggaagatggcttgg																										TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr16:3828795delG	uc002cvv.3	-	8	2051	c.1847delC	c.(1846-1848)cctfs	p.P616fs	CREBBP_uc002cvw.3_Frame_Shift_Del_p.P578fs	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	616	KIX.				N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.P616R(2)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGCGGGATCAGGTGTTGGGAA	0.468			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						46	87	---	---	---	---						-	3828795	G	-	3828795	7	5	223	1	0	1	0	1	0	0	0	0	3861	1000	35	0	5573	0	CREBBP	16	3828795	Frame_Shift_Del	DEL	G	TCGA-HT-8011-01A-11D-2395-08	1866655	3828795	86525958	37	9483											
NFAT5	10725	broad.mit.edu	37	chr16	69689703	69689703	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcaacaacatgacactggcGtaagtacttagtaagaattt	16	10	8	7	1	0	2	0	1	0	1	0	2	0	2	0	1	4	4	0	1	7	5			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr16:69689703G>A	uc002exm.2	+	5	1478	c.1142_splice	c.e5+1	p.A381_splice	NFAT5_uc002exj.2_Splice_Site_p.A305_splice|NFAT5_uc002exk.2_Splice_Site_p.A305_splice|NFAT5_uc002exl.2_Splice_Site_p.A399_splice|NFAT5_uc002exn.2_Splice_Site_p.A399_splice|NFAT5_uc002exh.2_Splice_Site_p.A175_splice|NFAT5_uc002exi.3_Splice_Site_p.A305_splice	NM_006599	NP_775322	O94916	NFAT5_HUMAN	Homo sapiens nuclear factor of activated T-cells 5, tonicity-responsive (NFAT5), transcript variant 3, mRNA.	381	RHD.				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TGACACTGGCGTAAGTACTTA	0.353													15	27					0	0	1	0	0	A	69689703	G	A	69689703	5	1	223	1	0	0	0	0	0	0	1	0	10360	1159	40	1	1219	1	NFAT5	16	69689703	Splice_Site	SNP	G	TCGA-HT-8011-01A-11D-2395-08	65860908	69689703	20665050	38	9484											
TMEM99	147184	broad.mit.edu	37	chr17	38991040	38991040	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgcttgcggtcatcggtTgagagaaggacttcttcttc	6	15	12	8	2	3	2	1	1	2	1	5	4	3	3	0	3	2	2	0	3	1	6			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr17:38991040T>A	uc021txc.1	+	2	571	c.272T>A	c.(271-273)tTg>tAg	p.L91*	TMEM99_uc002hvj.1_Nonsense_Mutation_p.L91*|TMEM99_uc021txd.1_Nonsense_Mutation_p.L91*|TMEM99_uc021txe.1_Nonsense_Mutation_p.L91*	NM_001195387	NP_001182316	Q8N816	TMM99_HUMAN	Homo sapiens transmembrane protein 99 (TMEM99), transcript variant 3, mRNA.	91						integral to membrane				cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				GGTCATCGGTTGAGAGAAGGA	0.458													79	90					0	0	1	0	0	A	38991040	T	A	38991040	4	1	223	1	0	0	0	0	0	1	0	0	16223	1821	63	5	274	5	TMEM99	17	38991040	Nonsense_Mutation	SNP	T	TCGA-HT-8011-01A-11D-2395-08		38991040	42204170	39	9485											
ACE	1636	broad.mit.edu	37	chr17	61557154	61557154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccaacatcctggcttcctCgcgaagctacgccatgctcc	8	8	7	18	3	0	0	0	0	0	0	4	1	3	0	5	1	4	3	5	1	3	2			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr17:61557154C>T	uc002jau.2	+	3	570	c.536C>T	c.(535-537)tCg>tTg	p.S179L	ACE_uc010wpi.2_Missense_Mutation_p.S179L|ACE_uc010ddu.2_5'UTR	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	179	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CTGGCTTCCTCGCGAAGCTAC	0.602													34	53					0	0	1	0	0	T	61557154	C	T	61557154	3	4	223	1	0	0	0	0	1	0	0	0	136	893	31	2	550	2	ACE	17	61557154	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08	22566114	61557154	19638056	40	9486											
DSG3	1830	broad.mit.edu	37	chr18	29038477	29038477	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagtgggaatcgatcagccgCcttttggaatctttgttgtt	7	15	12	7	2	2	0	1	0	1	0	3	4	2	2	2	2	1	2	2	2	2	5			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr18:29038477C>A	uc002kws.3	+	3	395	c.286C>A	c.(286-288)Cct>Act	p.P96T		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	96	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CGATCAGCCGCCTTTTGGAAT	0.443													17	33					3.52763e-06	3.83889e-06	1	1	0	A	29038477	C	A	29038477	3	1	223	1	0	0	0	0	1	0	0	0	4778	739	26	5	300	5	DSG3	18	29038477	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08		29038477	49038771	41	9487											
TCEB3C	162699	broad.mit.edu	37	chr18	44555313	44555313	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggagcgctggcgcggAgagtgcttctgggtttgcct	3	11	16	11	3	1	1	0	0	1	1	2	3	2	2	2	4	3	3	2	4	0	2			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr18:44555313A>G	uc010xdb.2	-	0	1137	c.901T>C	c.(901-903)Tcc>Ccc	p.S301P	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	301				S -> C (in Ref. 1; BAC01113).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GCTGGCGCGGAGAGTGCTTCT	0.632													59	1863					0	0	1	0	0	G	44555313	A	G	44555313	3	3	223	1	0	0	0	0	1	0	0	0	15680	304	11	4	2386	4	TCEB3C	18	44555313	Missense_Mutation	SNP	A	TCGA-HT-8011-01A-11D-2395-08	15516836	44555313	33521935	42	9488											
ZNF560	147741	broad.mit.edu	37	chr19	9578276	9578276	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattatgaactctcaaatgTccaaaaagagatgggtaaga	17	9	8	7	0	1	3	1	1	1	2	3	4	2	3	2	1	1	1	2	1	6	2			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:9578276T>A	uc002mlp.1	-	9	1557	c.1347A>T	c.(1345-1347)ggA>ggT	p.G449G	ZNF560_uc010dwr.1_Silent_p.G343G	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G449E(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CTCTCAAATGTCCAAAAAGAG	0.398													41	48					0	0	1	0	0	A	9578276	T	A	9578276	2	1	223	1	0	0	0	0	0	0	0	1	17988	1654	58	5		5	ZNF560	19	9578276	Silent	SNP	T	TCGA-HT-8011-01A-11D-2395-08		9578276	49550707	43	9489											
CRTC1	23373	broad.mit.edu	37	chr19	18888133	18888133	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gactgcacatgctcaacgacCccgacatggttctggccgac	9	7	10	15	3	2	0	1	0	1	0	2	4	2	0	3	2	3	3	3	2	1	1			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:18888133C>A	uc010ebv.3	+	14	1982	c.1894C>A	c.(1894-1896)Ccc>Acc	p.P632T	CRTC1_uc002nkb.4_Missense_Mutation_p.P616T|CRTC1_uc010ebw.3_Missense_Mutation_p.P452T	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN	Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.	616					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						GCTCAACGACCCCGACATGGT	0.682													168	288					5.35467e-60	6.39105e-60	1	1	0	A	18888133	C	A	18888133	3	1	223	1	0	0	0	0	1	0	0	0	3899	623	22	5	1952	5	CRTC1	19	18888133	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08	9309857	18888133	40240850	44	9490											
ZNF681	148213	broad.mit.edu	37	chr19	23926730	23926730	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgaggaatggttaaaggctTtgccacattcttcacatgtg	10	13	11	7	0	2	1	1	1	1	0	2	2	2	2	1	3	1	2	1	3	3	4			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:23926730T>A	uc002nrk.4	-	3	1764	c.1622A>T	c.(1621-1623)aAa>aTa	p.K541I	ZNF681_uc002nrl.4_Missense_Mutation_p.K472I|ZNF681_uc002nrj.4_Missense_Mutation_p.K472I	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GTTAAAGGCTTTGCCACATTC	0.393													13	13					0	0	1	0	0	A	23926730	T	A	23926730	3	1	223	1	0	0	0	0	1	0	0	0	18085	1841	64	5	319	5	ZNF681	19	23926730	Missense_Mutation	SNP	T	TCGA-HT-8011-01A-11D-2395-08	5038597	23926730	35202253	45	9491											
PSG8	440533	broad.mit.edu	37	chr19	43258728	43258728	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaagggtaaattctggggaGgtctggaccatctggagcaa	11	9	15	6	0	3	1	0	1	3	0	3	4	3	4	1	6	1	2	1	6	4	2	rs138526624	byFrequency	TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:43258728G>T	uc002ouo.2	-	4	1098	c.1000C>A	c.(1000-1002)Ctc>Atc	p.L334I	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Non-coding_Transcript|PSG8_uc002ouh.3_Missense_Mutation_p.L334I|PSG8_uc010ein.3_Missense_Mutation_p.L212I|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	334						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				ATTCTGGGGAGGTCTGGACCA	0.502													5	82					1.23904e-05	1.32883e-05	1	1	0	T	43258728	G	T	43258728	3	4	223	1	0	0	0	0	1	0	0	0	12661	1000	35	5	305	5	PSG8	19	43258728	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08	19331998	43258728	15870255	46	9492											
GPR32	2854	broad.mit.edu	37	chr19	51274118	51274118	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttccacctggcccttgcCgatttcatgctctcactgtc	4	15	6	16	1	3	0	2	0	2	0	6	1	4	0	4	1	2	1	4	1	0	4			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:51274118C>T	uc010ycf.2	+	0	261	c.261C>T	c.(259-261)gcC>gcT	p.A87A		NM_001506	NP_001497	O75388	GPR32_HUMAN	Homo sapiens G protein-coupled receptor 32 (GPR32), mRNA.	87						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TGGCCCTTGCCGATTTCATGC	0.562													26	46					0	0	1	0	0	T	51274118	C	T	51274118	2	4	223	1	0	0	0	0	0	0	0	1	6688	639	23	2		2	GPR32	19	51274118	Silent	SNP	C	TCGA-HT-8011-01A-11D-2395-08	8015390	51274118	7854865	47	9493											
LILRB2	10288	broad.mit.edu	37	chr19	54778558	54778558	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagtggatggccagggtggcGtagatgctgggctcagctgg	6	9	19	7	1	1	1	1	0	0	1	1	2	1	2	1	6	2	4	1	6	2	2			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:54778558G>A	uc002qfb.3	-	13	2042	c.1776C>T	c.(1774-1776)taC>taT	p.Y592Y	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_3'UTR|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Silent_p.Y591Y|LILRB2_uc010yet.2_Silent_p.Y476Y	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	592					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCAGGGTGGCGTAGATGCTGG	0.617													36	67					0	0	1	0	0	A	54778558	G	A	54778558	2	1	223	1	0	0	0	0	0	0	0	1	8791	1140	40	1		1	LILRB2	19	54778558	Silent	SNP	G	TCGA-HT-8011-01A-11D-2395-08	3504440	54778558	4350425	48	9494											
LILRB2	10288	broad.mit.edu	37	chr19	54780127	54780127	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcactcacagaggttttCttcctgggcgtcggcagctg	5	12	11	13	2	3	1	2	0	2	1	6	1	4	1	1	3	1	3	1	3	0	3			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:54780127C>A	uc002qfb.3	-	11	1854	c.1588G>T	c.(1588-1590)Gaa>Taa	p.E530*	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.K504N|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Nonsense_Mutation_p.E529*|LILRB2_uc010yet.2_Nonsense_Mutation_p.E414*	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	530					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGAGGTTTTCTTCCTGGGCG	0.627													17	111					6.49762e-13	7.39729e-13	1	1	0	A	54780127	C	A	54780127	4	1	223	1	0	0	0	0	0	1	0	0	8791	922	32	5	220	5	LILRB2	19	54780127	Nonsense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08	1569	54780127	4348856	49	9495											
WISP2	8839	broad.mit.edu	37	chr20	43344046	43344046	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggacatgagaggcacaccGaagacccacctcctggcctt	10	5	12	14	1	0	2	0	1	0	2	1	5	1	3	5	4	0	1	5	4	1	1			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr20:43344046G>A	uc002xmp.3	+	0	162	c.15G>A	c.(13-15)ccG>ccA	p.P5P	LOC79015_uc002xml.1_Intron|WISP2_uc002xmo.1_Silent_p.P5P|WISP2_uc002xmq.3_Silent_p.P5P	NM_003881	NP_003872	O76076	WISP2_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 2 (WISP2), mRNA.	5					cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				GAGGCACACCGAAGACCCACC	0.612													5	7					0	0	1	0	0	A	43344046	G	A	43344046	2	1	223	1	0	0	0	0	0	0	0	1	17370	1045	37	2		2	WISP2	20	43344046	Silent	SNP	G	TCGA-HT-8011-01A-11D-2395-08		43344046	19681474	50	9496											
GNAS	2778	broad.mit.edu	37	chr20	57428501	57428501	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacaacgagcccatccccGtcgagaatgatggcgaggcc	10	5	11	15	4	1	2	1	1	0	1	3	5	2	2	4	2	2	0	4	2	2	0			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr20:57428501G>A	uc002xzw.3	+	0	466	c.181G>A	c.(181-183)Gtc>Atc	p.V61I	GNAS-AS1_uc002xzs.2_5'Flank|GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	0					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCCCATCCCCGTCGAGAATGA	0.642			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			10	14					0	0	1	0	0	A	57428501	G	A	57428501	3	1	223	1	0	0	0	0	1	0	0	0	6510	1145	40	1	925	1	GNAS	20	57428501	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08	14084455	57428501	5597019	51	9497											
TEF	7008	broad.mit.edu	37	chr22	41791868	41791868	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccttcctggagaaggagaaCacagccctgcggacggaggt	10	5	15	11	2	0	2	0	0	0	2	1	6	1	4	3	5	3	0	3	5	2	1			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr22:41791868C>T	uc011apa.2	+	3	917	c.831C>T	c.(829-831)aaC>aaT	p.N277N	TEF_uc003azx.3_Silent_p.N242N|TEF_uc003azy.3_Silent_p.N272N	NM_001145398	NP_001138870	Q10587	TEF_HUMAN	Homo sapiens thyrotrophic embryonic factor (TEF), transcript variant 2, mRNA.	272	Leucine-zipper.				rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						AGAAGGAGAACACAGCCCTGC	0.587													56	80					0	0	1	0	0	T	41791868	C	T	41791868	2	4	223	1	0	0	0	0	0	0	0	1	15747	477	17	3		3	TEF	22	41791868	Silent	SNP	C	TCGA-HT-8011-01A-11D-2395-08		41791868	9512698	52	9498											
MAGEB16	139604	broad.mit.edu	37	chrX	35821247	35821247	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccatctcagtatgcggaaGctctgaaagaggaagaagag	14	7	12	8	1	2	4	1	1	2	3	4	6	3	6	1	2	2	2	1	2	5	1			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chrX:35821247G>T	uc010ngt.1	+	1	1213	c.934G>T	c.(934-936)Gct>Tct	p.A312S	MAGEB16_uc022bus.1_Missense_Mutation_p.A312S	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	312	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GTATGCGGAAGCTCTGAAAGA	0.488													5	1					0.184627	0.184627	1	1	0	T	35821247	G	T	35821247	3	4	223	1	0	0	0	0	1	0	0	0	9174	971	34	5	936	5	MAGEB16	23	35821247	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08		35821247	119449313	53	9499											
STAG2	10735	broad.mit.edu	37	chrX	123179197	123179197	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actcacaagtcagagcatttCgacatacaagcaccctggca	14	7	7	13	1	2	1	2	0	0	1	3	2	2	1	1	1	3	3	1	1	3	2			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chrX:123179197C>T	uc004eua.3	+	7	1050	c.646C>T	c.(646-648)Cga>Tga	p.R216*	STAG2_uc004etz.4_Nonsense_Mutation_p.R216*|STAG2_uc004eub.3_Nonsense_Mutation_p.R216*|STAG2_uc004euc.3_Nonsense_Mutation_p.R216*|STAG2_uc004eud.3_Nonsense_Mutation_p.R216*|STAG2_uc004eue.3_Nonsense_Mutation_p.R216*	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	216					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	p.R216Q(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CAGAGCATTTCGACATACAAG	0.343													44	13					0	0	1	0	0	T	123179197	C	T	123179197	4	4	223	1	0	0	0	0	0	1	0	0	15242	876	31	2	668	2	STAG2	23	123179197	Nonsense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08	87357950	123179197	32091363	54	9500											
CCDC27	148870	broad.mit.edu	37	chr1	3677958	3677958	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaatgccttctgaaaggCaaaggccaagagacatccat	15	7	9	10	0	1	3	0	2	1	1	2	4	2	3	3	2	1	1	3	2	4	1			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr1:3677958C>G	uc001akv.2	+	4	906	c.825C>G	c.(823-825)ggC>ggG	p.G275G		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	275										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TTCTGAAAGGCAAAGGCCAAG	0.567													4	53					0	0	1	0	0	G	3677958	C	G	3677958	2	3	224	1	0	0	0	0	0	0	0	1	2801	697	25	5		5	CCDC27	1	3677958	Silent	SNP	C	TCGA-HT-8012-01A-11D-2395-08		3677958	245572663	1	9501											
OMA1	115209	broad.mit.edu	37	chr1	58999969	58999969	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtatcgggcatctttcTcagttagcatatcattttta	9	16	7	9	1	3	0	2	0	2	0	5	0	3	0	1	2	1	4	1	2	4	7			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr1:58999969T>C	uc001cyy.3	-	3	852	c.764A>G	c.(763-765)gAg>gGg	p.E255G	DAB1_uc001cyt.1_Intron|OMA1_uc001cyx.1_Missense_Mutation_p.E255G|OMA1_uc009vzz.3_Missense_Mutation_p.E255G	NM_145243	NP_660286	Q96E52	OMA1_HUMAN	Homo sapiens OMA1 zinc metallopeptidase homolog (S. cerevisiae) (OMA1), mRNA.	255					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					GGCATCTTTCTCAGTTAGCAT	0.338													19	3					0	0	1	0	0	C	58999969	T	C	58999969	3	2	224	1	0	0	0	0	1	0	0	0	10864	1551	54	4	834	4	OMA1	1	58999969	Missense_Mutation	SNP	T	TCGA-HT-8012-01A-11D-2395-08	55322011	58999969	190250652	2	9502											
NTRK1	4914	broad.mit.edu	37	chr1	156841489	156841489	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaacaggaagaacgtgacGtgctgggcagagaacgatgt	13	6	14	8	3	1	3	1	1	0	2	1	6	1	4	0	2	4	2	0	2	4	0			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr1:156841489G>A	uc001fqh.1	+	6	848	c.792G>A	c.(790-792)acG>acA	p.T264T	NTRK1_uc001fqf.1_Silent_p.T234T|NTRK1_uc009wsi.1_Intron|NTRK1_uc001fqi.1_Silent_p.T264T|NTRK1_uc009wsk.1_Silent_p.T264T	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	264	Ig-like C2-type 1.				Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.T264M(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	AGAACGTGACGTGCTGGGCAG	0.592			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)			9	108					0	0	1	0	0	A	156841489	G	A	156841489	2	1	224	1	0	0	0	0	0	0	0	1	10706	1132	40	1		1	NTRK1	1	156841489	Silent	SNP	G	TCGA-HT-8012-01A-11D-2395-08	97841520	156841489	92409132	3	9503											
IL1RL1	9173	broad.mit.edu	37	chr2	102959762	102959762	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctggcttgtctagacatggTtttaagaatagctgacgtga	10	13	12	6	1	1	4	0	2	1	2	1	4	1	4	0	2	1	4	0	2	4	5			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr2:102959762T>A	uc002tbu.1	+	7	1128	c.857T>A	c.(856-858)gTt>gAt	p.V286D	IL1RL1_uc010ywa.2_Missense_Mutation_p.V169D|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Missense_Mutation_p.V286D	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	286	Ig-like C2-type 3.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CTAGACATGGTTTTAAGAATA	0.453													45	130					0	0	1	0	0	A	102959762	T	A	102959762	3	1	224	1	0	0	0	0	1	0	0	0	7663	1725	60	5	883	5	IL1RL1	2	102959762	Missense_Mutation	SNP	T	TCGA-HT-8012-01A-11D-2395-08		102959762	140239611	4	9504											
TFCP2L1	29842	broad.mit.edu	37	chr2	122005806	122005806	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actgcattcagctgggtcggGctggccctggggtccaagat	6	9	15	11	1	1	1	1	0	0	1	3	1	2	1	2	5	2	3	2	5	1	1			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr2:122005806G>A	uc002tmx.3	-	4	531	c.438C>T	c.(436-438)agC>agT	p.S146S	TFCP2L1_uc010flr.3_Silent_p.S146S	NM_014553	NP_055368	Q9NZI6	TF2L1_HUMAN	Homo sapiens transcription factor CP2-like 1 (TFCP2L1), mRNA.	146					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GCTGGGTCGGGCTGGCCCTGG	0.527													3	35					0	0	1	0	0	A	122005806	G	A	122005806	2	1	224	1	0	0	0	0	0	0	0	1	15793	1194	42	3		3	TFCP2L1	2	122005806	Silent	SNP	G	TCGA-HT-8012-01A-11D-2395-08	19046044	122005806	121193567	5	9505											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								27	37					0	0	1	0	0	T	209113112	C	T	209113112	3	4	224	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8012-01A-11D-2395-08	87107306	209113112	34086261	6	9506											
NR3C2	4306	broad.mit.edu	37	chr4	149075976	149075976	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctttgcgggggtgggggTgggggtgggggctgctgctg	0	9	27	5	1	0	0	0	0	0	0	0	0	0	0	0	9	3	4	0	9	0	1			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr4:149075976T>G	uc003ilj.4	-	4	2454	c.2091A>C	c.(2089-2091)ccA>ccC	p.P697P	NR3C2_uc003ilk.4_Intron|NR3C2_uc010iph.3_Intron	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	697	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527													4	14					0	0	1	0	0	G	149075976	T	G	149075976	2	3	224	1	0	0	0	0	0	0	0	1	10631	1683	59	5		5	NR3C2	4	149075976	Silent	SNP	T	TCGA-HT-8012-01A-11D-2395-08		149075976	42078300	7	9507											
PMPCB	9512	broad.mit.edu	37	chr7	102948108	102948109	+	Frame_Shift_Del	DEL	AA	AA	-																															gtgactctttatgcacacacAaaggagaaataccagctctg																								rs141254128		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr7:102948108_102948109delAA	uc003vbk.1	+	6	836_837	c.802_803delAA	c.(802-804)aaafs	p.K268fs	PMPCB_uc010liu.1_Frame_Shift_Del_p.K268fs|PMPCB_uc003vbl.3_Frame_Shift_Del_p.K268fs|PMPCB_uc011kll.1_Frame_Shift_Del_p.K163fs|PMPCB_uc011klm.1_Frame_Shift_Del_p.K143fs	NM_004279	NP_004270	O75439	MPPB_HUMAN	Homo sapiens peptidase (mitochondrial processing) beta (PMPCB), nuclear gene encoding mitochondrial protein, mRNA.	268					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATGCACACACAAAGGAGAAATA	0.396													10	41	---	---	---	---						-	102948109	AA	-	102948108	7	5	224	1	0	1	0	1	0	0	0	0	12141	131	5	0	828	0	PMPCB	7	102948108	Frame_Shift_Del	DEL	AA	TCGA-HT-8012-01A-11D-2395-08		102948108	56190555	8	9508											
ING3	54556	broad.mit.edu	37	chr7	120590817	120590817	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtggtttttttttttttcTttttttttttttgccggagt	3	28	7	3	1	1	0	0	0	1	0	1	1	1	1	1	2	1	1	1	2	1	12			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr7:120590817T>C	uc003vjn.3	+	1	1	c.-133_splice	c.e1-1		ING3_uc011knr.1_Splice_Site|ING3_uc003vjl.3_Splice_Site|ING3_uc003vjm.1_Splice_Site|ING3_uc003vjo.3_Splice_Site|ING3_uc003vjp.3_Splice_Site|ING3_uc011kns.2_5'Flank	NM_019071	NP_061944	Q9NXR8	ING3_HUMAN	Homo sapiens inhibitor of growth family, member 3 (ING3), transcript variant 1, mRNA.						histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					tttttttttcttttttttttt	0.542													4	15					0	0	1	0	0	C	120590817	T	C	120590817	5	2	224	1	0	0	0	0	0	0	1	0	7737	1623	56	4		4	ING3	7	120590817	Splice_Site	SNP	T	TCGA-HT-8012-01A-11D-2395-08	17642709	120590817	38547846	9	9509											
PTK2B	2185	broad.mit.edu	37	chr8	27310644	27310644	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attgcagtggagttcacaggGcccccacagaagcccccgag	10	5	12	14	1	1	1	1	0	0	1	1	3	1	2	4	2	2	2	4	2	1	2			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr8:27310644G>A	uc003xfn.2	+	32	3370	c.2562G>A	c.(2560-2562)ggG>ggA	p.G854G	PTK2B_uc022ate.1_Silent_p.G854G|PTK2B_uc003xfp.2_Silent_p.G854G|PTK2B_uc003xfq.2_Silent_p.G812G	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	854	Interaction with TGFB1I1 (By similarity).|Pro-rich.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		AGTTCACAGGGCCCCCACAGA	0.542													39	58					0	0	1	0	0	A	27310644	G	A	27310644	2	1	224	1	0	0	0	0	0	0	0	1	12763	1190	42	3		3	PTK2B	8	27310644	Silent	SNP	G	TCGA-HT-8012-01A-11D-2395-08		27310644	119053378	10	9510											
NOTCH1	4851	broad.mit.edu	37	chr9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-																															gccatggggacactcgcagtAgaaggaggccacacggtcat																										TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr9:139413070_139413072delAGA	uc004chz.3	-	5	1070_1072	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	357	EGF-like 9; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.F357delF(6)|p.S356del(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			8	43	---	---	---	---						-	139413072	AGA	-	139413070	7	5	224	1	0	1	0	1	0	0	0	0	10547	420	15	0	6711	0	NOTCH1	9	139413070	In_Frame_Del	DEL	AGA	TCGA-HT-8012-01A-11D-2395-08		139413070	1800361	11	9511											
DLG5	9231	broad.mit.edu	37	chr10	79601943	79601943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcagctcatggtggatcGcctcaaacctggcaagagag	10	9	12	10	1	3	1	3	0	0	1	4	3	3	2	2	3	2	3	2	3	2	1			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr10:79601943G>A	uc001jzk.3	-	6	1203	c.1133C>T	c.(1132-1134)gCg>gTg	p.A378V	DLG5_uc001jzj.3_Missense_Mutation_p.A133V|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_5'UTR	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	378					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ATGGTGGATCGCCTCAAACCT	0.652													53	60					0	0	1	0	0	A	79601943	G	A	79601943	3	1	224	1	0	0	0	0	1	0	0	0	4558	1087	38	1	4730	1	DLG5	10	79601943	Missense_Mutation	SNP	G	TCGA-HT-8012-01A-11D-2395-08		79601943	55932804	12	9512											
MUC5B	727897	broad.mit.edu	37	chr11	1264405	1264405	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctccatcccggggaccAcccacaccgccacagtgctg	7	5	8	21	2	0	0	0	0	0	0	3	1	3	1	8	2	1	1	8	2	0	0			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr11:1264405A>C	uc001lta.3	+	30	6354	c.6295A>C	c.(6295-6297)Acc>Ccc	p.T2099P		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	2099	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCGGGGACCACCCACACCGC	0.632													12	19					0	0	1	0	0	C	1264405	A	C	1264405	3	2	224	1	0	0	0	0	1	0	0	0	9979	159	6	5	6426	5	MUC5B	11	1264405	Missense_Mutation	SNP	A	TCGA-HT-8012-01A-11D-2395-08		1264405	133742111	13	9513											
IGF2	3481	broad.mit.edu	37	chr11	2154242	2154242	+	Frame_Shift_Del	DEL	G	G	-																															tccgattgctggccatctctGggggggcgcccccgtgggcg																								rs1050342		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr11:2154242delG	uc009yde.3	-	3	621	c.518delC	c.(517-519)ccafs	p.P173fs	IGF2_uc001lvf.3_Non-coding_Transcript|IGF2_uc001lvg.3_Frame_Shift_Del_p.P173fs|IGF2_uc009ydf.3_Frame_Shift_Del_p.P229fs|IGF2_uc021qcb.1_Frame_Shift_Del_p.P173fs|IGF2_uc001lvh.3_Frame_Shift_Del_p.P173fs|IGF2_uc001lvi.3_Non-coding_Transcript	NM_001007139	NP_001007140	P01344	IGF2_HUMAN	Homo sapiens insulin-like growth factor 2 (somatomedin A) (IGF2), transcript variant 2, mRNA.	173			P -> Q (in dbSNP:rs1050342).		glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of MAPKKK cascade|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		GGCCATCTCTGGGGGGGCGCC	0.657													7	298	---	---	---	---						-	2154242	G	-	2154242	7	5	224	1	0	1	0	1	0	0	0	0	7572	1348	47	0	28	0	IGF2	11	2154242	Frame_Shift_Del	DEL	G	TCGA-HT-8012-01A-11D-2395-08	889837	2154242	132852274	14	9514											
B4GALNT3	283358	broad.mit.edu	37	chr12	657235	657235	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcgaggtgctgcacaagcaGaatgaggagggcaccgacca	12	5	14	10	2	0	2	0	1	0	1	1	5	0	3	2	3	3	4	2	3	2	1			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr12:657235G>C	uc001qii.1	+	7	753	c.753G>C	c.(751-753)caG>caC	p.Q251H	B4GALNT3_uc001qij.1_Missense_Mutation_p.Q153H	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	251						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	p.K250K(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TGCACAAGCAGAATGAGGAGG	0.622													20	29					0	0	1	0	0	C	657235	G	C	657235	3	2	224	1	0	0	0	0	1	0	0	0	1268	933	33	5	783	5	B4GALNT3	12	657235	Missense_Mutation	SNP	G	TCGA-HT-8012-01A-11D-2395-08		657235	133194660	15	9515											
B4GALNT3	283358	broad.mit.edu	37	chr12	665815	665815	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttggaacaaggccagcgCgtggtgcggctctcggagta	7	8	16	10	4	1	0	0	0	1	0	2	2	1	2	1	5	3	3	1	5	3	2	rs150429681	byFrequency	TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr12:665815C>T	uc001qii.1	+	14	2163	c.2163C>T	c.(2161-2163)cgC>cgT	p.R721R	B4GALNT3_uc001qik.1_Silent_p.R270R	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	721						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			AAGGCCAGCGCGTGGTGCGGC	0.622													38	55					0	0	1	0	0	T	665815	C	T	665815	2	4	224	1	0	0	0	0	0	0	0	1	1268	755	27	1		1	B4GALNT3	12	665815	Silent	SNP	C	TCGA-HT-8012-01A-11D-2395-08	8580	665815	133186080	16	9516											
RNF17	56163	broad.mit.edu	37	chr13	25399896	25399896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaagatggaatttggtaccGagcaaaagttatcggtagga	14	10	13	4	2	0	2	0	1	0	1	1	5	0	4	1	4	2	4	1	4	7	4			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr13:25399896G>A	uc001upr.3	+	15	2272	c.2231G>A	c.(2230-2232)cGa>cAa	p.R744Q	RNF17_uc010tdd.1_Missense_Mutation_p.R603Q|RNF17_uc010tde.2_Missense_Mutation_p.R744Q|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.R683Q	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	744	Tudor 1.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ATTTGGTACCGAGCAAAAGTT	0.378													17	81					0	0	1	0	0	A	25399896	G	A	25399896	3	1	224	1	0	0	0	0	1	0	0	0	13461	1058	37	2	2293	2	RNF17	13	25399896	Missense_Mutation	SNP	G	TCGA-HT-8012-01A-11D-2395-08		25399896	89769982	17	9517											
BEGAIN	57596	broad.mit.edu	37	chr14	101005290	101005290	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcctcctcctcctcggcCgcgctgtcagtggagttctg	2	11	11	17	3	2	0	1	0	1	0	7	1	6	1	6	2	0	2	6	2	0	1			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr14:101005290C>T	uc010txa.2	-	5	944	c.798G>A	c.(796-798)gcG>gcA	p.A266A	BEGAIN_uc001yhp.3_Silent_p.A202A|BEGAIN_uc001yhq.3_Silent_p.A266A	NM_001159531	NP_065887	Q9BUH8	BEGIN_HUMAN	Homo sapiens brain-enriched guanylate kinase-associated homolog (rat) (BEGAIN), transcript variant 1, mRNA.	266						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				CCTCCTCGGCCGCGCTGTCAG	0.726													11	27					0	0	1	0	0	T	101005290	C	T	101005290	2	4	224	1	0	0	0	0	0	0	0	1	1397	639	23	2		2	BEGAIN	14	101005290	Silent	SNP	C	TCGA-HT-8012-01A-11D-2395-08		101005290	6344250	18	9518											
POLR3K	51728	broad.mit.edu	37	chr16	97470	97470	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacactgagcattgcagcacTtgtagaaggtggtcatcggc	10	9	12	10	1	1	2	1	1	0	1	2	2	1	2	0	3	3	4	0	3	2	3			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr16:97470T>C	uc002cfi.2	-	2	333	c.287A>G	c.(286-288)aAg>aGg	p.K96R		NM_016310	NP_057394	Q9Y2Y1	RPC10_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa (POLR3K), mRNA.	96					innate immune response|response to virus|transcription from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				ATTGCAGCACTTGTAGAAGGT	0.557													44	61					0	0	1	0	0	C	97470	T	C	97470	3	2	224	1	0	0	0	0	1	0	0	0	12237	1609	56	4	43	4	POLR3K	16	97470	Missense_Mutation	SNP	T	TCGA-HT-8012-01A-11D-2395-08		97470	90257283	19	9519											
KIAA0664	23277	broad.mit.edu	37	chr17	2595751	2595751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acaggtcgtactccatcaccCcgtgcagcaccagcccgatg	9	6	9	17	3	1	0	1	0	0	0	3	1	2	0	5	1	4	3	5	1	1	1			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr17:2595751C>T	uc002fuy.1	-	21	3433	c.3347G>A	c.(3346-3348)gGg>gAg	p.G1116E	KIAA0664_uc002fux.1_Missense_Mutation_p.G1049E|KIAA0664_uc010ckc.1_Missense_Mutation_p.G102E	NM_015229	NP_056044	O75153	K0664_HUMAN	Homo sapiens KIAA0664 (KIAA0664), mRNA.	1116							binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|lung(6)|urinary_tract(3)	23						CTCCATCACCCCGTGCAGCAC	0.701													11	51					0	0	1	0	0	T	2595751	C	T	2595751	3	4	224	1	0	0	0	0	1	0	0	0	8189	623	22	3	602	3	KIAA0664	17	2595751	Missense_Mutation	SNP	C	TCGA-HT-8012-01A-11D-2395-08		2595751	78599459	20	9520											
FASN	2194	broad.mit.edu	37	chr17	80051592	80051592	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctccgaggtctcagagccGctcacgcccacccagacgcc	7	4	10	20	4	2	2	2	0	1	2	4	3	3	2	6	1	1	1	6	1	0	0			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr17:80051592G>A	uc002kdu.3	-	3	453	c.336C>T	c.(334-336)agC>agT	p.S112S		NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	112	Beta-ketoacyl synthase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TCTCAGAGCCGCTCACGCCCA	0.657													36	59					0	0	1	0	0	A	80051592	G	A	80051592	2	1	224	1	0	0	0	0	0	0	0	1	5683	1078	38	1		1	FASN	17	80051592	Silent	SNP	G	TCGA-HT-8012-01A-11D-2395-08	77455841	80051592	1143618	21	9521											
CIC	23152	broad.mit.edu	37	chr19	42791207	42791208	+	Frame_Shift_Del	DEL	AG	AG	-																															gaacggccaccaggtgggacAgggagtgctgaccctgagcg																										TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr19:42791207_42791208delAG	uc002otf.1	+	2	307_308	c.267_268delAG	c.(265-270)acagggfs	p.T89fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	89	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAGGTGGGACAGGGAGTGCTGA	0.649			"Mis, F, S"		oligodendroglioma								8	102	---	---	---	---						-	42791208	AG	-	42791207	7	5	224	1	0	1	0	1	0	0	0	0	3424	175	7	0	277	0	CIC	19	42791207	Frame_Shift_Del	DEL	AG	TCGA-HT-8012-01A-11D-2395-08		42791207	16337776	22	9522			1	23		3	3	5348	N	TG_CAGT_AG	1.250099e-05
CIC	23152	broad.mit.edu	37	chr19	42793215	42793218	+	Frame_Shift_Del	DEL	CAGT	CAGT	-																															ctggacggcggagaagtagaCagtcaggcgctacaggaact																										TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr19:42793215_42793218delCAGT	uc002otf.1	+	6	1147_1150	c.1107_1110delCAGT	c.(1105-1110)gacagtfs	p.D369fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GAGAAGTAGACAGTCAGGCGCTAC	0.667			"Mis, F, S"		oligodendroglioma								28	59	---	---	---	---						-	42793218	CAGT	-	42793215	7	5	224	1	0	1	0	1	0	0	0	0	3424	477	17	0	1133	0	CIC	19	42793215	Frame_Shift_Del	DEL	CAGT	TCGA-HT-8012-01A-11D-2395-08	2008	42793215	16335768	23	9523			1	23		3	3	5348	N	TG_CAGT_AG	1.250099e-05
CIC	23152	broad.mit.edu	37	chr19	42796554	42796555	+	Frame_Shift_Del	DEL	TG	TG	-																															tcgtacgggcccacgagctcTgtagctctaggcttcacctc																										TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr19:42796554_42796555delTG	uc002otf.1	+	12	3151_3152	c.3111_3112delTG	c.(3109-3114)tctgtafs	p.S1037fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1037	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCACGAGCTCTGTAGCTCTAGG	0.703			"Mis, F, S"		oligodendroglioma								11	46	---	---	---	---						-	42796555	TG	-	42796554	7	5	224	1	0	1	0	1	0	0	0	0	3424	1567	55	0	3161	0	CIC	19	42796554	Frame_Shift_Del	DEL	TG	TCGA-HT-8012-01A-11D-2395-08	3339	42796554	16332429	24	9524			1	23		3	3	5348	N	TG_CAGT_AG	1.250099e-05
MYH7B	57644	broad.mit.edu	37	chr20	33583356	33583358	+	In_Frame_Del	DEL	AGG	AGG	-																															gacactggccaaagctgagaAggagaagcaagccactgaga																										TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr20:33583356_33583358delAGG	uc002xbi.2	+	27	3361_3363	c.3044_3046delAGG	c.(3043-3048)aaggag>aag	p.E1016del		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	974						membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AAAGCTGAGAAGGAGAAGCAAGC	0.645													19	29	---	---	---	---						-	33583358	AGG	-	33583356	7	5	224	1	0	1	0	1	0	0	0	0	10040	72	3	0	3146	0	MYH7B	20	33583356	In_Frame_Del	DEL	AGG	TCGA-HT-8012-01A-11D-2395-08		33583356	29442164	25	9525											
ARR3	407	broad.mit.edu	37	chrX	69500075	69500075	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaatggacaaagagctgctGgggatcctggtgtcctacaa	11	8	14	8	0	0	1	0	0	0	1	2	4	2	4	2	5	3	2	2	5	4	1			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chrX:69500075G>T	uc004dyb.2	+	12	1004	c.936G>T	c.(934-936)ctG>ctT	p.L312L	ARR3_uc004dya.3_Silent_p.L312L|RAB41_uc010nkv.3_5'Flank	NM_004312	NP_004303	P36575	ARRC_HUMAN	Homo sapiens arrestin 3, retinal (X-arrestin) (ARR3), mRNA.	312					signal transduction|visual perception	cytoplasm|soluble fraction				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						AAGAGCTGCTGGGGATCCTGG	0.502													51	79					2.84144e-21	3.10782e-21	1	1	0	T	69500075	G	T	69500075	2	4	224	1	0	0	0	0	0	0	0	1	979	1335	47	5		5	ARR3	23	69500075	Silent	SNP	G	TCGA-HT-8012-01A-11D-2395-08		69500075	85770485	26	9526											
TAF1	6872	broad.mit.edu	37	chrX	70679529	70679529	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaggaagatgctgggaGtgatgaagaaggagacaatc	15	7	16	3	0	0	7	0	4	0	3	1	10	0	9	0	3	1	1	0	3	4	0			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chrX:70679529G>T	uc004dzu.4	+	35	5240	c.5189G>T	c.(5188-5190)aGt>aTt	p.S1730I	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.S1751I|TAF1_uc004dzv.4_Missense_Mutation_p.S938I|TAF1_uc010nle.1_Non-coding_Transcript|TAF1_uc010nlf.1_Missense_Mutation_p.S155I|TAF1_uc004dzx.2_Non-coding_Transcript|TAF1_uc004dzy.2_Non-coding_Transcript|TAF1_uc004dzw.1_Non-coding_Transcript|TAF1_uc010nlg.1_Non-coding_Transcript	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	1730	Asp/Glu-rich (acidic tail).|Protein kinase 2.				G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GATGCTGGGAGTGATGAAGAA	0.468													5	124					0.00116845	0.00120281	1	1	0	T	70679529	G	T	70679529	3	4	224	1	0	0	0	0	1	0	0	0	15510	1029	36	5	5394	5	TAF1	23	70679529	Missense_Mutation	SNP	G	TCGA-HT-8012-01A-11D-2395-08	1179454	70679529	84591031	27	9527											
MAGEA10	4109	broad.mit.edu	37	chrX	151303906	151303908	+	In_Frame_Del	DEL	AGG	AGG	-																															gcttggtattagaggatagcAggaggaggaggaggaagagg																										TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chrX:151303906_151303908delAGG	uc022cgz.1	-	0	185_187	c.185_187delCCT	c.(184-189)tcctgc>tgc	p.S62del	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_In_Frame_Del_p.S62del|MAGEA10_uc004ffm.2_In_Frame_Del_p.S62del|MAGEA10_uc004ffl.3_In_Frame_Del_p.S62del	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	62	Poly-Ser.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGATAGCaggaggaggagga	0.562													7	193	---	---	---	---						-	151303908	AGG	-	151303906	7	5	224	1	0	1	0	1	0	0	0	0	9164	188	7	0	926	0	MAGEA10	23	151303906	In_Frame_Del	DEL	AGG	TCGA-HT-8012-01A-11D-2395-08	80624377	151303906	3966654	28	9528											
CTAG2	30848	broad.mit.edu	37	chrX	153881577	153881577	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggggcaccttccatcctgCgcagaagcggcaccgccatg	8	5	12	16	3	0	1	0	0	0	1	2	1	2	1	5	3	2	3	5	3	1	1	rs140132753		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chrX:153881577C>T	uc004fmi.2	-	0	277	c.213G>A	c.(211-213)gcG>gcA	p.A71A	CTAG2_uc004fmh.2_Silent_p.A71A	NM_020994	NP_066274	O75638	CTAG2_HUMAN	Homo sapiens cancer/testis antigen 2 (CTAG2), transcript variant 2, mRNA.	71	Gly-rich.					centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCCATCCTGCGCAGAAGCGG	0.711													19	57					0	0	1	0	0	T	153881577	C	T	153881577	2	4	224	1	0	0	0	0	0	0	0	1	3991	755	27	1		1	CTAG2	23	153881577	Silent	SNP	C	TCGA-HT-8012-01A-11D-2395-08	2577671	153881577	1388983	29	9529											
KANK4	163782	broad.mit.edu	37	chr1	62728946	62728946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacttccggctggagacgCggaaccactcttgactgatg	9	8	12	12	4	1	3	0	2	1	1	2	6	2	4	2	3	1	1	2	3	1	2			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr1:62728946C>T	uc001dah.4	-	6	2734	c.2357G>A	c.(2356-2358)cGc>cAc	p.R786H	KANK4_uc001dai.4_Missense_Mutation_p.R158H|KANK4_uc001daf.4_5'UTR|KANK4_uc001dag.4_Missense_Mutation_p.R142H	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	786				R -> H (in Ref. 1; BAC03774).						NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GCTGGAGACGCGGAACCACTC	0.562													17	13					0	0	1	0	0	T	62728946	C	T	62728946	3	4	225	1	0	0	0	0	1	0	0	0	7979	768	27	1	646	1	KANK4	1	62728946	Missense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08		62728946	186521675	1	9530											
RYR2	6262	broad.mit.edu	37	chr1	237730050	237730050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcttggctcagatgaacGtgcctttgcctttgatggct	6	13	13	9	1	1	3	1	2	0	1	1	4	1	4	2	3	4	3	2	3	1	3			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr1:237730050G>A	uc001hyl.1	+	27	3518	c.3398G>A	c.(3397-3399)cGt>cAt	p.R1133H		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1133	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCAGATGAACGTGCCTTTGCC	0.527													88	126					0	0	1	0	0	A	237730050	G	A	237730050	3	1	225	1	0	0	0	0	1	0	0	0	13769	1145	40	1	3508	1	RYR2	1	237730050	Missense_Mutation	SNP	G	TCGA-HT-8013-01A-11D-2395-08	175001104	237730050	11520571	2	9531											
RGPD3	653489	broad.mit.edu	37	chr2	107041183	107041183	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atttttaagttccccaagccCctttctttccactgacttac	8	16	3	14	0	1	1	0	1	1	0	3	1	3	1	5	0	2	1	5	0	3	7			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr2:107041183C>T	uc010ywi.1	-	19	3297	c.3240G>A	c.(3238-3240)agG>agA	p.R1080R		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1080	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCCCCAAGCCCCTTTCTTTCC	0.378													175	268					0	0	1	0	0	T	107041183	C	T	107041183	2	4	225	1	0	0	0	0	0	0	0	1	13287	622	22	3		3	RGPD3	2	107041183	Silent	SNP	C	TCGA-HT-8013-01A-11D-2395-08		107041183	136158190	3	9532											
TTN	7273	broad.mit.edu	37	chr2	179443923	179443923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcatcagatttttggcaatCgtacactataagagttgtgt	12	14	9	6	1	1	2	1	0	0	2	2	2	1	2	0	1	2	4	0	1	4	6			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr2:179443923C>T	uc021vsy.1	-	268	60355	c.60130G>A	c.(60130-60132)Gat>Aat	p.D20044N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D13739N|TTN_uc021vta.1_Missense_Mutation_p.D13672N|TTN_uc021vtb.1_Missense_Mutation_p.D13547N|AX746670_uc002umv.1_Missense_Mutation_p.S50L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20971	Fibronectin type-III 45.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTGGCAATCGTACACTATA	0.443													38	50					0	0	1	0	0	T	179443923	C	T	179443923	3	4	225	1	0	0	0	0	1	0	0	0	16732	884	31	2	40317	2	TTN	2	179443923	Missense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08	72402740	179443923	63755450	4	9533											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								30	33					0	0	1	0	0	T	209113112	C	T	209113112	3	4	225	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08	29669189	209113112	34086261	5	9534											
ZCWPW2	152098	broad.mit.edu	37	chr3	28566121	28566121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaattaaaagctggagaatGtattgaggatataactaata	20	11	8	2	0	0	2	0	1	0	1	0	4	0	3	0	2	2	2	0	2	10	7			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr3:28566121G>A	uc003ceh.3	+	9	1181	c.1013G>A	c.(1012-1014)tGt>tAt	p.C338Y	ZCWPW2_uc003cei.3_Missense_Mutation_p.C338Y|ZCWPW2_uc010hfo.3_Missense_Mutation_p.C143Y	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 2 (ZCWPW2), mRNA.	338							zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						GCTGGAGAATGTATTGAGGAT	0.303													8	56					0	0	1	0	0	A	28566121	G	A	28566121	3	1	225	1	0	0	0	0	1	0	0	0	17595	1377	48	3	1043	3	ZCWPW2	3	28566121	Missense_Mutation	SNP	G	TCGA-HT-8013-01A-11D-2395-08		28566121	169456309	6	9535											
POLQ	10721	broad.mit.edu	37	chr3	121158888	121158888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgattcctggcaaatatctaCgccttcccaaaatggtctga	11	12	7	11	1	2	2	0	2	2	0	4	2	4	2	3	2	1	1	3	2	5	4			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr3:121158888C>T	uc003eee.4	-	26	7469	c.7340G>A	c.(7339-7341)cGt>cAt	p.R2447H	POLQ_uc003eed.3_Missense_Mutation_p.R1619H	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	2447					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CAAATATCTACGCCTTCCCAA	0.328								DNA polymerases (catalytic subunits)					19	32					0	0	1	0	0	T	121158888	C	T	121158888	3	4	225	1	0	0	0	0	1	0	0	0	12208	536	19	1	448	1	POLQ	3	121158888	Missense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08	92592767	121158888	76863542	7	9536											
ESYT3	83850	broad.mit.edu	37	chr3	138192428	138192428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagattcagctcacagtgcGctatgtgtgtctgcggcgct	6	12	13	10	3	3	1	2	1	1	1	3	2	3	1	0	1	3	3	0	1	1	2			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr3:138192428G>A	uc003esk.3	+	18	2514	c.2288G>A	c.(2287-2289)cGc>cAc	p.R763H		NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA.	763	C2 3.					integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CTCACAGTGCGCTATGTGTGT	0.562													62	93					0	0	1	0	0	A	138192428	G	A	138192428	3	1	225	1	0	0	0	0	1	0	0	0	5266	1087	38	1	2362	1	ESYT3	3	138192428	Missense_Mutation	SNP	G	TCGA-HT-8013-01A-11D-2395-08	17033540	138192428	59830002	8	9537											
FAM71F2	346653	broad.mit.edu	37	chr7	128315777	128315777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgaagggtctgccaccGtgatcctcggggtcacctcc	5	10	12	14	2	3	2	1	2	2	0	6	2	5	2	5	3	1	0	5	3	1	0			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr7:128315777G>A	uc003vnk.4	+	1	335	c.229G>A	c.(229-231)Gtg>Atg	p.V77M	FAM71F2_uc010llm.1_Missense_Mutation_p.V68M|FAM71F2_uc003vnl.3_Non-coding_Transcript|FAM71F2_uc010lln.2_Non-coding_Transcript	NM_001012454	NP_001012457	Q6NXP2	F71F2_HUMAN	Homo sapiens family with sequence similarity 71, member F2 (FAM71F2), transcript variant 1, mRNA.	77										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						GTCTGCCACCGTGATCCTCGG	0.582													3	44					0	0	1	0	0	A	128315777	G	A	128315777	3	1	225	1	0	0	0	0	1	0	0	0	5613	1145	40	1	235	1	FAM71F2	7	128315777	Missense_Mutation	SNP	G	TCGA-HT-8013-01A-11D-2395-08		128315777	30822886	9	9538											
CNTNAP2	26047	broad.mit.edu	37	chr7	146829342	146829342	+	Frame_Shift_Del	DEL	T	T	-																															ctttctattttacagggaaaTttgagcttttcttgtgtgga																										TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr7:146829342delT	uc003weu.2	+	7	1605	c.1089delT	c.(1087-1089)aatfs	p.N363fs		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	363	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.G362E(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TACAGGGAAATTTGAGCTTTT	0.428										HNSCC(39;0.1)			64	54	---	---	---	---						-	146829342	T	-	146829342	7	5	225	1	0	1	0	1	0	0	0	0	3647	1490	52	0	1119	0	CNTNAP2	7	146829342	Frame_Shift_Del	DEL	T	TCGA-HT-8013-01A-11D-2395-08	18513565	146829342	12309321	10	9539											
C8orf40	114926	broad.mit.edu	37	chr8	42401645	42401645	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttatggagtgatgggtgaCgatggttctattgattatac	9	15	14	3	1	1	3	0	3	1	0	1	5	1	4	0	4	1	2	0	4	4	6			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr8:42401645C>T	uc011lcv.2	+	1	79	c.30C>T	c.(28-30)gaC>gaT	p.D10D	C8orf40_uc003xph.3_Silent_p.D10D|C8orf40_uc003xpg.3_Silent_p.D10D|C8orf40_uc010lxo.3_Silent_p.D10D	NM_001135676	NP_612445	Q96E16	CH040_HUMAN	Homo sapiens chromosome 8 open reading frame 40 (C8orf40), transcript variant 4, mRNA.	10						cytoplasm|integral to membrane|nucleolus				large_intestine(2)	2	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGATGGGTGACGATGGTTCTA	0.433													42	107					0	0	1	0	0	T	42401645	C	T	42401645	2	4	225	1	0	0	0	0	0	0	0	1	2426	535	19	1		1	C8orf40	8	42401645	Silent	SNP	C	TCGA-HT-8013-01A-11D-2395-08		42401645	103962377	11	9540											
RBM12B	389677	broad.mit.edu	37	chr8	94745679	94745679	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggggcccaactggcctatcaTttagatctttaatagcagcc	10	11	9	11	0	2	1	1	0	1	1	2	1	2	1	3	3	3	1	3	3	5	6			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr8:94745679T>C	uc022aye.1	-	0	2960	c.2960A>G	c.(2959-2961)aAt>aGt	p.N987S	RBM12B_uc003yfz.3_Missense_Mutation_p.N987S	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	Homo sapiens RNA binding motif protein 12B (RBM12B), mRNA.	987	RRM 4.						RNA binding|nucleotide binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TGGCCTATCATTTAGATCTTT	0.378													23	29					0	0	1	0	0	C	94745679	T	C	94745679	3	2	225	1	0	0	0	0	1	0	0	0	13114	1493	52	3	49	3	RBM12B	8	94745679	Missense_Mutation	SNP	T	TCGA-HT-8013-01A-11D-2395-08	52344034	94745679	51618343	12	9541											
ZNF438	220929	broad.mit.edu	37	chr10	31134429	31134429	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagtaatctgacaacgacCacatttgatttgtaatttga	14	13	7	7	1	1	3	0	3	1	0	1	4	1	3	1	0	2	3	1	0	3	5			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr10:31134429C>G	uc010qdz.2	-	7	2383	c.1948G>C	c.(1948-1950)Ggt>Cgt	p.G650R	ZNF438_uc001ivn.3_Missense_Mutation_p.G601R|ZNF438_uc010qdy.2_Missense_Mutation_p.G640R|ZNF438_uc001ivo.4_Missense_Mutation_p.G214R|ZNF438_uc009xlg.3_Missense_Mutation_p.G650R|ZNF438_uc001ivp.4_Missense_Mutation_p.G640R|ZNF438_uc010qea.2_Missense_Mutation_p.G650R|ZNF438_uc010qeb.2_Missense_Mutation_p.G650R	NM_182755	NP_001137241	Q7Z4V0	ZN438_HUMAN	Homo sapiens zinc finger protein 438 (ZNF438), transcript variant 2, mRNA.	650					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TGACAACGACCACATTTGATT	0.393													29	62					0	0	1	0	0	G	31134429	C	G	31134429	3	3	225	1	0	0	0	0	1	0	0	0	17907	594	21	5	542	5	ZNF438	10	31134429	Missense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08		31134429	104400318	13	9542											
STK32C	282974	broad.mit.edu	37	chr10	134021578	134021578	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcggagcgttccgcctcgTcctccacaggctccgcagca	5	6	13	17	5	0	0	0	0	0	0	5	1	4	1	5	3	2	4	5	3	0	1			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr10:134021578T>C	uc010quu.1	-	11	1552	c.1436A>G	c.(1435-1437)gAc>gGc	p.D479G	STK32C_uc001lld.1_Missense_Mutation_p.D349G|STK32C_uc001lle.1_Missense_Mutation_p.D466G|STK32C_uc001llb.2_Missense_Mutation_p.D237G|STK32C_uc001llc.1_Non-coding_Transcript	NM_173575	NP_775846	Q86UX6	ST32C_HUMAN	Homo sapiens serine/threonine kinase 32C (STK32C), mRNA.	466							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		TTCCGCCTCGTCCTCCACAGG	0.706													3	30					0	0	1	0	0	C	134021578	T	C	134021578	3	2	225	1	0	0	0	0	1	0	0	0	15298	1667	58	3	67	3	STK32C	10	134021578	Missense_Mutation	SNP	T	TCGA-HT-8013-01A-11D-2395-08	102887149	134021578	1513169	14	9543											
ZNF215	7762	broad.mit.edu	37	chr11	6977476	6977476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaccgacgtacaaaccttaCtaagcatcaaaaacttcatg	17	8	4	12	2	2	0	2	0	0	0	2	1	2	0	2	0	6	2	2	0	7	4			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr11:6977476C>T	uc001mey.3	+	6	1856	c.1268C>T	c.(1267-1269)aCt>aTt	p.T423I	ZNF215_uc010raw.2_3'UTR|ZNF215_uc010rax.2_Missense_Mutation_p.T185I|ZNF215_uc001mez.1_Intron	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	423					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		ACAAACCTTACTAAGCATCAA	0.408													7	31					0	0	1	0	0	T	6977476	C	T	6977476	3	4	225	1	0	0	0	0	1	0	0	0	17768	565	20	3	1286	3	ZNF215	11	6977476	Missense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08		6977476	128029040	15	9544											
PCNXL3	399909	broad.mit.edu	37	chr11	65397113	65397113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggccctggtgactgcttcGtcctggcctctgactacctc	4	12	10	15	1	1	2	0	2	1	0	4	2	2	2	4	3	2	1	4	3	1	2			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr11:65397113G>T	uc001oey.2	+	25	4123	c.4123G>T	c.(4123-4125)Gtc>Ttc	p.V1375F	PCNXL3_uc001oez.2_Missense_Mutation_p.V262F	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.	1375						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TGACTGCTTCGTCCTGGCCTC	0.617													7	14					0.00198382	0.00202694	1	1	0	T	65397113	G	T	65397113	3	4	225	1	0	0	0	0	1	0	0	0	11593	1145	40	5	4225	5	PCNXL3	11	65397113	Missense_Mutation	SNP	G	TCGA-HT-8013-01A-11D-2395-08	58419637	65397113	69609403	16	9545											
HTR3A	3359	broad.mit.edu	37	chr11	113856763	113856763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcaacatctctttgtggCgcttgccagaaaaggtgaaa	13	10	9	9	1	2	2	1	1	1	1	3	2	2	2	1	2	2	1	1	2	4	2			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr11:113856763C>T	uc010rxb.2	+	5	822	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	HTR3A_uc010rxa.2_Missense_Mutation_p.R197C|HTR3A_uc009yyx.3_Intron|HTR3A_uc010rxc.2_Missense_Mutation_p.R176C	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	191					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	p.R191G(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CTCTTTGTGGCGCTTGCCAGA	0.527													13	291					0	0	1	0	0	T	113856763	C	T	113856763	3	4	225	1	0	0	0	0	1	0	0	0	7444	768	27	1	637	1	HTR3A	11	113856763	Missense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08	48459650	113856763	21149753	17	9546											
MON2	23041	broad.mit.edu	37	chr12	62986483	62986483	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactagttccttttaaggAtttcatgcagccaccagcat	10	12	8	11	0	1	0	1	0	0	0	2	1	2	1	3	2	3	4	3	2	2	5			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr12:62986483A>G	uc001sre.3	+	34	5499	c.5108A>G	c.(5107-5109)gAt>gGt	p.D1703G	MON2_uc010ssn.2_Missense_Mutation_p.D1697G|MON2_uc009zqj.3_3'UTR|MON2_uc010ssl.2_Missense_Mutation_p.D1631G|MON2_uc010ssm.2_Missense_Mutation_p.D1674G|MON2_uc001srf.3_Missense_Mutation_p.D1466G|MON2_uc001srg.3_Missense_Mutation_p.D572G	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA.	1704					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CCTTTTAAGGATTTCATGCAG	0.393													26	43					0	0	1	0	0	G	62986483	A	G	62986483	3	3	225	1	0	0	0	0	1	0	0	0	9700	333	12	3	5246	3	MON2	12	62986483	Missense_Mutation	SNP	A	TCGA-HT-8013-01A-11D-2395-08		62986483	70865412	18	9547											
SETD3	84193	broad.mit.edu	37	chr14	99865219	99865219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcctgcactccagcctcctCctcgaggtttctcaagacca	8	10	6	17	1	1	1	1	0	1	1	7	2	5	1	6	1	2	2	6	1	1	1			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr14:99865219C>T	uc001ygc.3	-	12	1752	c.1582G>A	c.(1582-1584)Gag>Aag	p.E528K		NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	Homo sapiens SET domain containing 3 (SETD3), transcript variant 1, mRNA.	528					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				CCAGCCTCCTCCTCGAGGTTT	0.532													69	92					0	0	1	0	0	T	99865219	C	T	99865219	3	4	225	1	0	0	0	0	1	0	0	0	14132	864	30	3	206	3	SETD3	14	99865219	Missense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08		99865219	7484321	19	9548											
ERN2	10595	broad.mit.edu	37	chr16	23703565	23703565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgaggatgtttgcctggcGataaagactgtctccaaagg	10	11	13	7	1	1	2	0	1	1	1	2	4	1	3	2	3	1	1	2	3	3	2			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr16:23703565G>A	uc002dma.4	-	17	2501	c.2332C>T	c.(2332-2334)Cgc>Tgc	p.R778C	ERN2_uc010bxp.3_Missense_Mutation_p.R726C	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	730	Protein kinase.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TTTGCCTGGCGATAAAGACTG	0.612													55	77					0	0	1	0	0	A	23703565	G	A	23703565	3	1	225	1	0	0	0	0	1	0	0	0	5238	1058	37	2	612	2	ERN2	16	23703565	Missense_Mutation	SNP	G	TCGA-HT-8013-01A-11D-2395-08		23703565	66651188	20	9549											
OR1A2	26189	broad.mit.edu	37	chr17	3100860	3100860	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggattttattctcctgggAgttactagtcagcaagaaca	11	13	9	8	0	2	1	1	0	1	1	3	3	2	3	1	2	3	2	1	2	5	5			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr17:3100860A>G	uc002fvd.1	+	0	48	c.48A>G	c.(46-48)ggA>ggG	p.G16G		NM_012352	NP_036484	Q9Y585	OR1A2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 2 (OR1A2), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TTCTCCTGGGAGTTACTAGTC	0.398													52	62					0	0	1	0	0	G	3100860	A	G	3100860	2	3	225	1	0	0	0	0	0	0	0	1	10950	291	11	4		4	OR1A2	17	3100860	Silent	SNP	A	TCGA-HT-8013-01A-11D-2395-08		3100860	78094350	21	9550											
KIAA0753	9851	broad.mit.edu	37	chr17	6526324	6526324	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cttacaccgagcaggaagtgGatgctcccctcggtcagtaa	10	8	11	12	2	1	0	1	0	0	0	3	3	2	2	3	3	3	3	3	3	3	2			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr17:6526324G>C	uc002gde.4	-	5	1341	c.982C>G	c.(982-984)Cca>Gca	p.P328A	KIAA0753_uc010vtd.2_5'Flank|KIAA0753_uc010clo.3_Missense_Mutation_p.P29A|KIAA0753_uc010vte.2_Missense_Mutation_p.P29A	NM_014804	NP_055619	Q2KHM9	K0753_HUMAN	Homo sapiens KIAA0753 (KIAA0753), mRNA.	328						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GCAGGAAGTGGATGCTCCCCT	0.522													4	61					0	0	1	0	0	C	6526324	G	C	6526324	3	2	225	1	0	0	0	0	1	0	0	0	8191	1174	41	5	1977	5	KIAA0753	17	6526324	Missense_Mutation	SNP	G	TCGA-HT-8013-01A-11D-2395-08	3425464	6526324	74668886	22	9551											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			10	13					0	0	1	0	0	A	7577121	G	A	7577121	3	1	225	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-8013-01A-11D-2395-08	1050797	7577121	73618089	23	9552											
TP53	7157	broad.mit.edu	37	chr17	7577545	7577545	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggatgggcctccggttcaTgccgcccatgcaggaactgt	7	8	14	12	2	1	0	1	0	0	0	2	3	2	2	4	4	3	2	4	4	1	1			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr17:7577545T>C	uc002gim.2	-	6	930	c.736A>G	c.(736-738)Atg>Gtg	p.M246V	TP53_uc002gig.1_Missense_Mutation_p.M246V|TP53_uc002gih.3_Missense_Mutation_p.M246V|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.M114V|TP53_uc010cnf.1_Missense_Mutation_p.M114V|TP53_uc002gii.1_Missense_Mutation_p.M114V|TP53_uc010cni.1_Missense_Mutation_p.M246V|TP53_uc010cnh.1_Missense_Mutation_p.M246V|TP53_uc002gij.2_Missense_Mutation_p.M246V|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.M153V|TP53_uc002gio.2_Missense_Mutation_p.M114V|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.	246	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(296)|p.G245D(99)|p.M246V(65)|p.G245V(58)|p.G245C(51)|p.M246I(24)|p.G245R(10)|p.M246R(10)|p.G245A(8)|p.M246K(8)|p.0?(8)|p.M246T(8)|p.M246L(6)|p.?(5)|p.M246fs*1(4)|p.M246_P250delMNRRP(4)|p.G244_M246>V(4)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.C242_M246>L(2)|p.M153V(2)|p.C238_M246delCNSSCMGGM(2)|p.G245fs*14(2)|p.G245fs*17(2)|p.G245fs*16(2)|p.G244_M246del(1)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245E(1)|p.G245fs*22(1)|p.G245del(1)|p.C242fs*98(1)|p.G245F(1)|p.G151_M153>V(1)|p.S241_G245delSCMGG(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)		CTCCGGTTCATGCCGCCCATG	0.577		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)			25	50					0	0	1	0	0	C	7577545	T	C	7577545	3	2	225	1	0	0	0	0	1	0	0	0	16378	1464	51	3	554	3	TP53	17	7577545	Missense_Mutation	SNP	T	TCGA-HT-8013-01A-11D-2395-08	424	7577545	73617665	24	9553											
DBNDD2	55861	broad.mit.edu	37	chr20	44037441	44037441	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcccacttcttgatccgcagCccccataggtagtatctcat	8	11	7	15	1	2	1	1	1	2	0	4	1	3	1	4	1	1	3	4	1	3	5			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr20:44037441C>A	uc002xof.3	+	2	619	c.446_splice	c.e2-1	p.P149_splice	DBNDD2_uc002xnx.3_Splice_Site_p.P47_splice|DBNDD2_uc021wei.1_Splice_Site_p.P47_splice|DBNDD2_uc002xnz.3_Splice_Site_p.P47_splice|DBNDD2_uc002xoa.3_Splice_Site_p.P47_splice|DBNDD2_uc021wej.1_Splice_Site_p.P47_splice|DBNDD2_uc002xob.3_Splice_Site_p.P145_splice|DBNDD2_uc002xoc.3_Splice_Site_p.P47_splice|DBNDD2_uc002xod.3_Splice_Site_p.P47_splice|DBNDD2_uc002xog.3_Splice_Site_p.P149_splice	NM_001048225	NP_001041690	Q9BQY9	DBND2_HUMAN	Homo sapiens dysbindin (dystrobrevin binding protein 1) domain containing 2 (DBNDD2), transcript variant 5, mRNA.	145					negative regulation of protein kinase activity	cytoplasm	protein binding			breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				TGATCCGCAGCCCCCATAGGT	0.517													17	21					3.45872e-05	3.61244e-05	1	1	0	A	44037441	C	A	44037441	5	1	225	1	0	0	0	0	0	0	1	0	4254	753	26	5	146	5	DBNDD2	20	44037441	Splice_Site	SNP	C	TCGA-HT-8013-01A-11D-2395-08		44037441	18988079	25	9554											
ATRX	546	broad.mit.edu	37	chrX	76939235	76939235	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaagtgttggcaggttCatattgaggttcttcttttc	7	18	10	6	0	4	2	2	1	2	1	5	2	4	2	0	3	0	4	0	3	2	9			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chrX:76939235C>A	uc004ecp.4	-	8	1745	c.1513G>T	c.(1513-1515)Gaa>Taa	p.E505*	ATRX_uc004ecq.4_Nonsense_Mutation_p.E467*|ATRX_uc004eco.4_Nonsense_Mutation_p.E290*|ATRX_uc004ecr.2_Nonsense_Mutation_p.E466*|ATRX_uc010nlx.1_Nonsense_Mutation_p.E505*|ATRX_uc010nly.1_Nonsense_Mutation_p.E450*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	505					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTGGCAGGTTCATATTGAGGT	0.383			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						112	172					1.45418e-49	1.55332e-49	1	1	0	A	76939235	C	A	76939235	4	1	225	1	0	0	0	0	0	1	0	0	1208	835	29	5	6073	5	ATRX	23	76939235	Nonsense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08		76939235	78331325	26	9555											
PGK1	5230	broad.mit.edu	37	chrX	77380495	77380495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttgcccggggaaccaaagCtctcatggatgaggtggtga	9	10	14	8	1	1	2	1	2	1	0	2	4	1	4	2	5	3	1	2	5	2	2			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chrX:77380495C>T	uc004ecz.4	+	8	1233	c.1061C>T	c.(1060-1062)gCt>gTt	p.A354V	PGK1_uc011mqq.2_Missense_Mutation_p.A326V	NM_000291	NP_000282	P00558	PGK1_HUMAN	Homo sapiens phosphoglycerate kinase 1 (PGK1), mRNA.	354					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						GGAACCAAAGCTCTCATGGAT	0.493													12	68					0	0	1	0	0	T	77380495	C	T	77380495	3	4	225	1	0	0	0	0	1	0	0	0	11790	797	28	3	1095	3	PGK1	23	77380495	Missense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08	441260	77380495	77890065	27	9556											
MAMLD1	10046	broad.mit.edu	37	chrX	149638129	149638129	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagatgtcacccttgcaaTgggcccaggtgctcatccta	9	10	10	12	0	2	2	2	1	0	1	3	2	3	2	3	2	2	2	3	2	3	2			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chrX:149638129T>A	uc011mxu.2	+	2	519	c.209T>A	c.(208-210)aTg>aAg	p.M70K	MAMLD1_uc011mxt.1_Missense_Mutation_p.M57K|MAMLD1_uc004fee.2_Missense_Mutation_p.M95K|MAMLD1_uc011mxv.2_Missense_Mutation_p.M70K|MAMLD1_uc011mxw.2_Missense_Mutation_p.M22K	NM_001177465	NP_001170936	Q13495	MAMD1_HUMAN	Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA.	95					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.G69G(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCTTGCAATGGGCCCAGGT	0.517													17	133					0	0	1	0	0	A	149638129	T	A	149638129	3	1	225	1	0	0	0	0	1	0	0	0	9208	1464	51	5	294	5	MAMLD1	23	149638129	Missense_Mutation	SNP	T	TCGA-HT-8013-01A-11D-2395-08	72257634	149638129	5632431	28	9557											
IL9R	3581	broad.mit.edu	37	chrX	155234153	155234153	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcatcctgacctggagcAtcagtcctgccttggagcca	8	9	10	14	0	1	1	1	1	0	0	3	3	3	3	5	2	4	2	5	2	0	1			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chrX:155234153A>G	uc004fnv.1	+	4	681	c.502A>G	c.(502-504)Atc>Gtc	p.I168V	IL9R_uc010nvn.2_Missense_Mutation_p.I147V|IL9R_uc004fnu.1_Missense_Mutation_p.I203V	NM_002186	NP_002177	Q01113	IL9R_HUMAN	Homo sapiens interleukin 9 receptor (IL9R), transcript variant 1, mRNA.	168	Fibronectin type-III.				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GACCTGGAGCATCAGTCCTGC	0.547													10	72					0	0	1	0	0	G	155234153	A	G	155234153	3	3	225	1	0	0	0	0	1	0	0	0	7708	217	8	3	520	3	IL9R	23	155234153	Missense_Mutation	SNP	A	TCGA-HT-8013-01A-11D-2395-08	5596024	155234153	36407	29	9558											
STK19	8859	broad.mit.edu	37	chr6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A																															attcagcgacagtggcgggcINSaaacccctcccggggcgggg																										TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr6:31939829_31939830insA	uc003nyv.3	+	0	184_185	c.56_57insA	c.(55-57)gcafs	p.A19fs	DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.3_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.2_Frame_Shift_Ins_p.A19fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.3_Frame_Shift_Ins_p.A19fs|STK19_uc010jtn.1_5'Flank	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	19						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													10	207	---	---	---	---						A	31939830	-	A	31939829	7	5	226	1	0	1	1	0	0	0	0	0	15291	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-HT-8015-01B-11D-A289-08		31939829	139175238	1	9559											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	14	9	5	13	1	2	2	2	0	0	2	4	3	3	2	3	0	1	2	3	0	4	3	rs121913377		TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				5	59					0	0	1	0	0	T	140453136	A	T	140453136	3	4	226	1	0	0	0	0	1	0	0	0	1496	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-HT-8015-01B-11D-A289-08		140453136	18685527	2	9560											
FLYWCH1	84256	broad.mit.edu	37	chr16	2983818	2983818	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggagaaggtgtattggAcctgccgggaccaggcccgc	7	6	17	11	2	0	1	0	0	0	1	0	4	0	3	4	6	1	1	4	6	2	2			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr16:2983818A>C	uc002csd.3	+	5	1714	c.1351A>C	c.(1351-1353)Acc>Ccc	p.T451P	FLYWCH1_uc002csb.3_Missense_Mutation_p.T450P|FLYWCH1_uc002csc.3_Missense_Mutation_p.T450P|FLYWCH1_uc010bsv.3_Missense_Mutation_p.T126P	NM_032296	NP_115672	Q4VC44	FWCH1_HUMAN	Homo sapiens FLYWCH-type zinc finger 1 (FLYWCH1), transcript variant 1, mRNA.	451						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						GGTGTATTGGACCTGCCGGGA	0.692													4	12					0	0	1	0	0	C	2983818	A	C	2983818	3	2	226	1	0	0	0	0	1	0	0	0	5947	275	10	5	1362	5	FLYWCH1	16	2983818	Missense_Mutation	SNP	A	TCGA-HT-8015-01B-11D-A289-08		2983818	87370935	3	9561											
RNF126	55658	broad.mit.edu	37	chr19	649708	649708	+	Frame_Shift_Del	DEL	C	C	-																															gatggcatccaggccgttggCcccccaggcgtagtccatag																										TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr19:649708delC	uc010drs.3	-	5	659	c.547delG	c.(547-549)gccfs	p.A183fs		NM_194460	NP_919442	Q9BV68	RN126_HUMAN	Homo sapiens ring finger protein 126 (RNF126), mRNA.	183							protein binding|zinc ion binding			lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		AGGCCGTTGGCCCCCCAGGCG	0.672													4	7	---	---	---	---						-	649708	C	-	649708	7	5	226	1	0	1	0	1	0	0	0	0	13435	739	26	0	404	0	RNF126	19	649708	Frame_Shift_Del	DEL	C	TCGA-HT-8015-01B-11D-A289-08		649708	58479275	4	9562											
SELENBP1	8991	broad.mit.edu	37	chr1	151338256	151338256	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcactcacctggcatttcggGcagcagccagcccttcactt	7	9	9	16	1	2	0	2	0	0	0	3	0	2	0	3	2	3	4	3	2	0	3			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr1:151338256G>C	uc010pcy.2	-	7	1166	c.1036C>G	c.(1036-1038)Ccc>Gcc	p.P346A	SELENBP1_uc001exx.3_Missense_Mutation_p.P304A|SELENBP1_uc010pcz.2_Missense_Mutation_p.P242A|SELENBP1_uc001eya.3_Missense_Mutation_p.P240A	NM_003944	NP_003935	Q13228	SBP1_HUMAN	Homo sapiens selenium binding protein 1 (SELENBP1), mRNA.	304					protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGCATTTCGGGCAGCAGCCAG	0.577													11	275					0	0	1	0	0	C	151338256	G	C	151338256	3	2	227	1	0	0	0	0	1	0	0	0	14014	1203	42	5	528	5	SELENBP1	1	151338256	Missense_Mutation	SNP	G	TCGA-HT-8018-01A-11D-2395-08		151338256	97912365	1	9563											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								14	80					0	0	1	0	0	T	209113112	C	T	209113112	3	4	227	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8018-01A-11D-2395-08		209113112	34086261	2	9564											
RBMS3	27303	broad.mit.edu	37	chr3	29323193	29323193	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggcaaacgcctggatcaGccacaaatgtacccccagta	13	6	9	13	1	1	0	1	0	0	0	1	1	1	1	4	2	3	3	4	2	4	2			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr3:29323193G>A	uc003cel.3	+	0	391	c.21G>A	c.(19-21)caG>caA	p.Q7Q	RBMS3_uc010hfq.3_Silent_p.Q7Q|RBMS3_uc003cek.3_Silent_p.Q7Q|RBMS3_uc010hfr.3_Silent_p.Q7Q|RBMS3_uc003cem.3_Silent_p.Q7Q	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA.	7						cytoplasm	RNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				GCCTGGATCAGCCACAAATGT	0.522													9	67					0	0	1	0	0	A	29323193	G	A	29323193	2	1	227	1	0	0	0	0	0	0	0	1	13150	962	34	3		3	RBMS3	3	29323193	Silent	SNP	G	TCGA-HT-8018-01A-11D-2395-08		29323193	168699237	3	9565											
QRICH1	54870	broad.mit.edu	37	chr3	49070172	49070172	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccttggagaaggccagctTcatgtgctggtccactgtct	7	11	12	11	0	2	1	1	0	1	1	3	3	3	1	3	3	2	2	3	3	1	2			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr3:49070172T>C	uc010hkq.3	-	8	2226	c.1930A>G	c.(1930-1932)Aag>Gag	p.K644E	QRICH1_uc003cvu.3_Missense_Mutation_p.K644E|QRICH1_uc003cvv.3_Missense_Mutation_p.K644E	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	Homo sapiens glutamine-rich 1 (QRICH1), transcript variant 2, mRNA.	644										breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AAGGCCAGCTTCATGTGCTGG	0.502													22	100					0	0	1	0	0	C	49070172	T	C	49070172	3	2	227	1	0	0	0	0	1	0	0	0	12879	1792	62	3	412	3	QRICH1	3	49070172	Missense_Mutation	SNP	T	TCGA-HT-8018-01A-11D-2395-08	19746979	49070172	148952258	4	9566											
RGS12	6002	broad.mit.edu	37	chr4	3319342	3319342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttctgtccggaccccgaagGgagccccccatttgaggccg	6	7	12	16	3	1	1	0	1	1	0	2	4	2	3	7	3	1	0	7	3	1	2			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr4:3319342G>A	uc003ggw.3	+	1	2349	c.1445G>A	c.(1444-1446)gGg>gAg	p.G482E	RGS12_uc003ggu.2_Missense_Mutation_p.G482E|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Missense_Mutation_p.G482E|RGS12_uc003ggx.1_Missense_Mutation_p.G482E	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	482						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)		GACCCCGAAGGGAGCCCCCCA	0.677													26	120					0	0	1	0	0	A	3319342	G	A	3319342	3	1	227	1	0	0	0	0	1	0	0	0	13295	1232	43	3	1447	3	RGS12	4	3319342	Missense_Mutation	SNP	G	TCGA-HT-8018-01A-11D-2395-08		3319342	187834934	5	9567											
TMEM63B	55362	broad.mit.edu	37	chr6	44118317	44118317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcctggacctcttcttcCgctggctctttgataagaaa	8	12	8	13	1	3	2	0	1	3	1	4	3	4	3	4	2	1	2	4	2	2	4			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr6:44118317C>T	uc003owr.3	+	17	1688	c.1624C>T	c.(1624-1626)Cgc>Tgc	p.R542C	TMEM63B_uc003ows.3_Missense_Mutation_p.R445C|TMEM63B_uc010jyz.3_Non-coding_Transcript	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.	542						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CCTCTTCTTCCGCTGGCTCTT	0.572													17	71					0	0	1	0	0	T	44118317	C	T	44118317	3	4	227	1	0	0	0	0	1	0	0	0	16188	652	23	2	1690	2	TMEM63B	6	44118317	Missense_Mutation	SNP	C	TCGA-HT-8018-01A-11D-2395-08		44118317	126996750	6	9568											
IFRD1	3475	broad.mit.edu	37	chr7	112112278	112112278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttccattggttaggaacGggattttccaacagaaacca	12	12	8	9	1	1	1	0	0	1	1	3	3	3	3	3	3	3	1	3	3	4	6			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr7:112112278G>A	uc003vgh.3	+	10	1516	c.1046G>A	c.(1045-1047)cGg>cAg	p.R349Q	IFRD1_uc011kmn.2_Missense_Mutation_p.R299Q|IFRD1_uc003vgj.3_Missense_Mutation_p.R349Q|IFRD1_uc011kmo.2_Non-coding_Transcript|IFRD1_uc011kmp.2_Missense_Mutation_p.R299Q|IFRD1_uc003vgk.3_Missense_Mutation_p.R66Q	NM_001007245	NP_001184009	O00458	IFRD1_HUMAN	Homo sapiens interferon-related developmental regulator 1 (IFRD1), transcript variant 2, mRNA.	349					multicellular organismal development|myoblast cell fate determination		binding	p.E348G(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						GGTTAGGAACGGGATTTTCCA	0.383													18	67					0	0	1	0	0	A	112112278	G	A	112112278	3	1	227	1	0	0	0	0	1	0	0	0	7553	1116	39	2	1084	2	IFRD1	7	112112278	Missense_Mutation	SNP	G	TCGA-HT-8018-01A-11D-2395-08		112112278	47026385	7	9569											
CYP11B1	1584	broad.mit.edu	37	chr8	143960802	143960802	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctctctgcagcgagctggGatttgctctgcaccatcccc	5	10	9	17	1	2	0	0	0	2	0	4	2	3	1	4	1	5	4	4	1	0	1			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr8:143960802G>T	uc010mey.3	-	1	341	c.334C>A	c.(334-336)Ccc>Acc	p.P112T	CYP11B1_uc003yxi.3_Intron|CYP11B1_uc003yxj.3_Intron	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	80					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.S112I(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	AGCGAGCTGGGATTTGCTCTG	0.602									Familial Hyperaldosteronism type I				8	36					2.74318e-10	2.83167e-10	1	1	0	T	143960802	G	T	143960802	3	4	227	1	0	0	0	0	1	0	0	0	4145	1189	41	5		5	CYP11B1	8	143960802	Missense_Mutation	SNP	G	TCGA-HT-8018-01A-11D-2395-08		143960802	2403220	8	9570											
TP53	7157	broad.mit.edu	37	chr17	7577117	7577117	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctcccaggacaggcacaaAcacgcacctcaaagctgttc	12	6	7	16	1	2	0	1	0	1	0	4	1	2	1	2	2	2	4	2	2	2	1			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr17:7577117A>C	uc002gim.2	-	7	1015	c.821T>G	c.(820-822)gTt>gGt	p.V274G	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.V274G|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.V142G|TP53_uc010cnf.1_Missense_Mutation_p.V142G|TP53_uc002gii.1_Missense_Mutation_p.V142G|TP53_uc010cni.1_Missense_Mutation_p.V274G|TP53_uc010cnh.1_Missense_Mutation_p.V274G|TP53_uc002gij.2_Missense_Mutation_p.V274G|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.	274	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(519)|p.R273C(471)|p.R273L(92)|p.V274A(35)|p.R273P(31)|p.V274F(19)|p.V274D(17)|p.V274G(15)|p.R273S(14)|p.V274L(10)|p.R273G(9)|p.0?(8)|p.V274I(4)|p.R273fs*72(3)|p.V274V(3)|p.R273_C275delRVC(2)|p.V274_P278del(2)|p.R273fs*33(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.V274fs*71(1)|p.R273R(1)|p.R273fs*71(1)|p.R273fs*32(1)|p.E271_R273delEVR(1)|p.S269fs*21(1)|p.R273*(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)		ACAGGCACAAACACGCACCTC	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	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)			13	42					0	0	1	0	0	C	7577117	A	C	7577117	3	2	227	1	0	0	0	0	1	0	0	0	16378	43	2	5	465	5	TP53	17	7577117	Missense_Mutation	SNP	A	TCGA-HT-8018-01A-11D-2395-08		7577117	73618093	9	9571											
TP53	7157	broad.mit.edu	37	chr17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	11	10	8	12	1	2	0	1	0	1	0	4	1	3	0	3	1	0	2	3	1	3	2			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr17:7578212G>A	uc002gim.2	-	5	831	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_uc002gig.1_Nonsense_Mutation_p.R213*|TP53_uc002gih.3_Nonsense_Mutation_p.R213*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.R81*|TP53_uc010cnf.1_Nonsense_Mutation_p.R81*|TP53_uc002gii.1_Nonsense_Mutation_p.R81*|TP53_uc010cni.1_Nonsense_Mutation_p.R213*|TP53_uc010cnh.1_Nonsense_Mutation_p.R213*|TP53_uc002gij.2_Nonsense_Mutation_p.R213*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R120*|TP53_uc002gio.2_Nonsense_Mutation_p.R81*|TP53_uc010vug.2_Nonsense_Mutation_p.R174*|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(467)|p.R213L(35)|p.R213Q(27)|p.R81*(21)|p.R120*(21)|p.R213fs*34(13)|p.F212fs*3(11)|p.0?(8)|p.R213G(8)|p.R213P(5)|p.?(5)|p.R213R(5)|p.R213fs*35(4)|p.F212L(3)|p.D208_V216delDRNTFRHSV(2)|p.D207_R213delDDRNTFR(2)|p.T211_S215delTFRHS(2)|p.F212I(2)|p.F212S(2)|p.R209_R213delRNTFR(2)|p.R213fs*2(2)|p.R213_S215>X(2)|p.D207_V216del10(2)|p.R213fs*32(2)|p.R213W(2)|p.K164_P219del(1)|p.R120G(1)|p.T211_F212insX(1)|p.F212fs*4(1)|p.R213*33(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R213>L(1)|p.R120fs*35(1)|p.R81G(1)|p.F212Y(1)|p.T211fs*28(1)|p.R209fs*6(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)		ACACTATGTCGAAAAGTGTTT	0.532		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)			6	35					0	0	1	0	0	A	7578212	G	A	7578212	4	1	227	1	0	0	0	0	0	1	0	0	16378	1066	37	2	657	2	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-HT-8018-01A-11D-2395-08	1095	7578212	73616998	10	9572											
NPHS1	4868	broad.mit.edu	37	chr19	36333388	36333388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcatggtgaatccgcaggCgccccgttggtcccctggat	5	9	14	13	3	0	1	0	1	0	0	2	2	2	2	5	5	0	3	5	5	1	1	rs146400394		TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr19:36333388C>T	uc002oby.3	-	17	2555	c.2399G>A	c.(2398-2400)cGc>cAc	p.R800H		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	800	Ig-like C2-type 7.				cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.R800H(2)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AATCCGCAGGCGCCCCGTTGG	0.607													15	92					0	0	1	0	0	T	36333388	C	T	36333388	3	4	227	1	0	0	0	0	1	0	0	0	10582	768	27	1	1374	1	NPHS1	19	36333388	Missense_Mutation	SNP	C	TCGA-HT-8018-01A-11D-2395-08		36333388	22795595	11	9573											
SHKBP1	92799	broad.mit.edu	37	chr19	41094661	41094661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcggcagatgggcatggcGgctgcagtgctggcaatgac	8	7	17	9	2	0	2	0	1	0	1	1	2	0	2	0	5	2	6	0	5	1	0			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr19:41094661G>A	uc002oob.3	+	13	1517	c.1468G>A	c.(1468-1470)Ggc>Agc	p.G490S	SHKBP1_uc002ooc.3_Missense_Mutation_p.G465S|SHKBP1_uc010xvl.1_Missense_Mutation_p.G413S|SHKBP1_uc002ooe.3_Missense_Mutation_p.G327S|SHKBP1_uc010xvm.2_Missense_Mutation_p.G270S|SHKBP1_uc010xvn.2_Missense_Mutation_p.G368S	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA.	490						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.G490S(2)|p.G489G(1)		breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGGCATGGCGGCTGCAGTGC	0.617													9	63					0	0	1	0	0	A	41094661	G	A	41094661	3	1	227	1	0	0	0	0	1	0	0	0	14284	1116	39	2	1522	2	SHKBP1	19	41094661	Missense_Mutation	SNP	G	TCGA-HT-8018-01A-11D-2395-08	4761273	41094661	18034322	12	9574											
VPS16	64601	broad.mit.edu	37	chr20	2840757	2840759	+	In_Frame_Del	DEL	ATA	ATA	-																															tagtgtgaggccagtgctcgAtatatactctgcttccggca																										TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr20:2840757_2840759delATA	uc002whe.3	+	2	248_250	c.200_202delATA	c.(199-204)gatata>gta	p.67_68DI>V	VPS16_uc002whf.3_In_Frame_Del_p.67_68DI>V|VPS16_uc002whg.3_5'Flank	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	Homo sapiens vacuolar protein sorting 16 homolog (S. cerevisiae) (VPS16), transcript variant 1, mRNA.	67					intracellular protein transport	HOPS complex|early endosome|late endosome membrane|lysosomal membrane|recycling endosome		p.D67N(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CCAGTGCTCGATATATACTCTGC	0.591													22	88	---	---	---	---						-	2840759	ATA	-	2840757	7	5	227	1	0	1	0	1	0	0	0	0	17190	333	12	0	210	0	VPS16	20	2840757	In_Frame_Del	DEL	ATA	TCGA-HT-8018-01A-11D-2395-08		2840757	60184763	13	9575											
MYT1	4661	broad.mit.edu	37	chr20	62839768	62839768	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgcctgccgagcagagcCagctgggcctgggagagcca	7	3	16	15	2	0	2	0	0	0	2	0	4	0	2	6	2	5	2	6	2	0	0			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr20:62839768C>T	uc002yii.3	+	6	1583	c.1219C>T	c.(1219-1221)Cag>Tag	p.Q407*	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_Nonsense_Mutation_p.Q39*	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	407					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CGAGCAGAGCCAGCTGGGCCT	0.672													18	45					0	0	1	0	0	T	62839768	C	T	62839768	4	4	227	1	0	0	0	0	0	1	0	0	10106	595	21	3	1237	3	MYT1	20	62839768	Nonsense_Mutation	SNP	C	TCGA-HT-8018-01A-11D-2395-08	59999011	62839768	185752	14	9576											
GGT5	2687	broad.mit.edu	37	chr22	24622165	24622165	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtagtggctgagctggtggtCcccccggccatcgatctgtt	4	11	14	12	2	1	1	0	1	1	0	3	2	2	1	4	4	1	4	4	4	1	2			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr22:24622165C>A	uc002zzp.4	-	7	1525	c.1108G>T	c.(1108-1110)Gac>Tac	p.D370Y	GGT5_uc002zzo.4_Missense_Mutation_p.D370Y|GGT5_uc002zzr.4_Missense_Mutation_p.D338Y|GGT5_uc002zzq.4_Missense_Mutation_p.D338Y|GGT5_uc011ajm.2_Missense_Mutation_p.D293Y|GGT5_uc011ajn.1_Non-coding_Transcript	NM_001099781	NP_001093251	P36269	GGT5_HUMAN	Homo sapiens gamma-glutamyltransferase 5 (GGT5), transcript variant 1, mRNA.	370					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						AGCTGGTGGTCCCCCCGGCCA	0.697													10	45					0.00136819	0.00136819	1	1	0	A	24622165	C	A	24622165	3	1	227	1	0	0	0	0	1	0	0	0	6362	855	30	5	675	5	GGT5	22	24622165	Missense_Mutation	SNP	C	TCGA-HT-8018-01A-11D-2395-08		24622165	26682401	15	9577											
VSIG4	11326	broad.mit.edu	37	chrX	65253439	65253439	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtgctcaattggagggAtacatctcctggaaccttgt	9	11	12	9	0	2	0	1	0	1	0	3	3	2	3	2	4	3	1	2	4	3	3			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chrX:65253439A>G	uc004dwh.2	-	1	416	c.289T>C	c.(289-291)Tcc>Ccc	p.S97P	VSIG4_uc004dwi.2_Missense_Mutation_p.S97P|VSIG4_uc004dwj.3_Missense_Mutation_p.S97P|VSIG4_uc011moy.2_Missense_Mutation_p.S97P	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 4 (VSIG4), transcript variant 1, mRNA.	97	Ig-like 1.				complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AATTGGAGGGATACATCTCCT	0.537													9	205					0	0	1	0	0	G	65253439	A	G	65253439	3	3	227	1	0	0	0	0	1	0	0	0	17222	333	12	3	942	3	VSIG4	23	65253439	Missense_Mutation	SNP	A	TCGA-HT-8018-01A-11D-2395-08		65253439	90017121	16	9578											
ATRX	546	broad.mit.edu	37	chrX	76931745	76931745	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaggatcattgtcgtcaTcatcatcatccactgtgaca	10	13	6	12	1	6	1	6	1	1	0	9	2	7	2	1	1	0	0	1	1	0	1			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chrX:76931745T>C	uc004ecp.4	-	9	4017	c.3785A>G	c.(3784-3786)gAt>gGt	p.D1262G	ATRX_uc004ecq.4_Missense_Mutation_p.D1224G|ATRX_uc004eco.4_Missense_Mutation_p.D1047G|ATRX_uc004ecr.2_Missense_Mutation_p.D1194G	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1262	Poly-Asp.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATTGTCGTCATCATCATCATC	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						6	93					0	0	1	0	0	C	76931745	T	C	76931745	3	2	227	1	0	0	0	0	1	0	0	0	1208	1435	50	3	3797	3	ATRX	23	76931745	Missense_Mutation	SNP	T	TCGA-HT-8018-01A-11D-2395-08	11678306	76931745	78338815	17	9579											
PDZD4	57595	broad.mit.edu	37	chrX	153069212	153069212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcacgggccgcttggccaCgtagcgggttccgtcgctgc	3	8	15	15	7	0	0	0	0	0	0	3	0	1	0	3	3	2	5	3	3	1	3			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chrX:153069212C>T	uc004fja.1	-	7	2174	c.1924G>A	c.(1924-1926)Gtg>Atg	p.V642M	PDZD4_uc004fiy.1_Missense_Mutation_p.V561M|PDZD4_uc004fiz.1_Missense_Mutation_p.V636M|PDZD4_uc004fix.2_Missense_Mutation_p.V540M|PDZD4_uc011mze.1_Missense_Mutation_p.V527M|PDZD4_uc022chy.1_Missense_Mutation_p.V15M	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	636						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCTTGGCCACGTAGCGGGTT	0.701													8	150					0	0	1	0	0	T	153069212	C	T	153069212	3	4	227	1	0	0	0	0	1	0	0	0	11703	536	19	1	407	1	PDZD4	23	153069212	Missense_Mutation	SNP	C	TCGA-HT-8018-01A-11D-2395-08	76137467	153069212	2201348	18	9580											
MICA	100507436	broad.mit.edu	37	chr6	31378387	31378387	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgcagtcagggtttctTgctgaggtacatctggatgg	6	14	14	7	0	4	1	1	1	3	0	4	2	4	2	0	4	3	4	0	4	1	3	rs78945208	by1000genomes	TCGA-HT-8019-01A-21D-2395-08	TCGA-HT-8019-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02719fb3-2c30-4afa-b0e1-b51654332bdb	df62fbc1-7e1c-4a99-a231-47ec5ddfc1be	g.chr6:31378387T>C	uc003ntk.1	+	1	177	c.138T>C	c.(136-138)ctT>ctC	p.L46L	MICA_uc003rxz.1_5'UTR|MICA_uc021yun.1_5'UTR|MICA_uc021yuo.1_5'UTR	NM_001177519	NP_001170990	Q29983	MICA_HUMAN	Homo sapiens MHC class I polypeptide-related sequence A (MICA), transcript variant 1 (allele MICA*00801), mRNA.	46					antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	MHC class I protein complex|cell surface|cytoplasm|extracellular space|integral to plasma membrane	natural killer cell lectin-like receptor binding			breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				CAGGGTTTCTTGCTGAGGTAC	0.532													5	39					0	0	1	0	0	C	31378387	T	C	31378387	2	2	228	1	0	0	0	0	0	0	0	1	9568	1799	63	3		3	MICA	6	31378387	Silent	SNP	T	TCGA-HT-8019-01A-21D-2395-08		31378387	139736680	1	9581											
EXOC6	54536	broad.mit.edu	37	chr10	94700482	94700482	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttttttttttgtattttAgggttatggttttccagtga	5	26	8	2	0	0	1	0	1	0	0	1	1	1	1	1	2	0	3	1	2	3	12			TCGA-HT-8019-01A-21D-2395-08	TCGA-HT-8019-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02719fb3-2c30-4afa-b0e1-b51654332bdb	df62fbc1-7e1c-4a99-a231-47ec5ddfc1be	g.chr10:94700482A>T	uc010qnr.2	+	14	1404	c.1261_splice	c.e14-2	p.G421_splice	EXOC6_uc001kie.3_Splice_Site_p.G400_splice|EXOC6_uc001kig.3_Splice_Site_p.G405_splice|EXOC6_uc009xub.3_Splice_Site_p.G405_splice|EXOC6_uc009xuc.3_Splice_Site_p.G302_splice|EXOC6_uc001kih.3_Splice_Site	NM_001013848	NP_001013870	Q8TAG9	EXOC6_HUMAN	Homo sapiens exocyst complex component 6 (EXOC6), transcript variant 2, mRNA.	405					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				TTTGTATTTTAGGGTTATGGT	0.313													4	26					0	0	1	0	0	T	94700482	A	T	94700482	5	4	228	1	0	0	0	0	0	0	1	0	5308	434	15	5	1351	5	EXOC6	10	94700482	Splice_Site	SNP	A	TCGA-HT-8019-01A-21D-2395-08		94700482	40834265	2	9582											
PLOD1	5351	broad.mit.edu	37	chr1	12024322	12024322	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggctactatgcccgttcCgaggactacgtggacattgt	8	11	12	10	3	0	0	0	0	0	0	1	4	1	2	2	3	3	2	2	3	3	5			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:12024322C>T	uc010obb.2	+	12	1547	c.1434C>T	c.(1432-1434)tcC>tcT	p.S478S	PLOD1_uc001atm.3_Silent_p.S431S	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1), mRNA.	431					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	ATGCCCGTTCCGAGGACTACG	0.627													8	213					0	0	1	0	0	T	12024322	C	T	12024322	2	4	229	1	0	0	0	0	0	0	0	1	12101	639	23	2		2	PLOD1	1	12024322	Silent	SNP	C	TCGA-HT-8104-01A-11D-2395-08		12024322	237226299	1	9583											
ZNF683	257101	broad.mit.edu	37	chr1	26691676	26691676	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacttgactgtgaatttctTgtcatcggtggagctggcct	6	15	12	8	1	2	2	1	2	1	0	3	3	2	3	1	3	2	2	1	3	2	4			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:26691676T>C	uc001bmg.1	-	3	479	c.361A>G	c.(361-363)Aag>Gag	p.K121E	ZNF683_uc001bmh.1_Missense_Mutation_p.K121E|ZNF683_uc009vsj.1_Missense_Mutation_p.K121E	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GTGAATTTCTTGTCATCGGTG	0.577													4	9					0	0	1	0	0	C	26691676	T	C	26691676	3	2	229	1	0	0	0	0	1	0	0	0	18087	1821	63	3	1165	3	ZNF683	1	26691676	Missense_Mutation	SNP	T	TCGA-HT-8104-01A-11D-2395-08	14667354	26691676	222558945	2	9584											
C8A	731	broad.mit.edu	37	chr1	57378109	57378109	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acgaggtgctgcggcacacaAgcctggggcctctggaggcc	7	5	16	13	2	1	0	0	0	1	0	1	2	1	1	3	6	3	2	3	6	1	0			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:57378109A>T	uc001cyo.2	+	9	1546	c.1414A>T	c.(1414-1416)Agc>Tgc	p.S472C		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	472	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GCGGCACACAAGCCTGGGGCC	0.602													36	70					0	0	1	0	0	T	57378109	A	T	57378109	3	4	229	1	0	0	0	0	1	0	0	0	2416	72	3	5	1452	5	C8A	1	57378109	Missense_Mutation	SNP	A	TCGA-HT-8104-01A-11D-2395-08	30686433	57378109	191872512	3	9585											
RPF1	80135	broad.mit.edu	37	chr1	84961976	84961976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattcaggaacttggaccaCgttttaccttaaaattaagg	14	12	8	7	1	1	0	1	0	0	0	1	3	1	2	2	3	2	1	2	3	6	6			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:84961976C>T	uc001djv.4	+	7	976	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C		NM_025065	NP_079341	Q9H9Y2	RPF1_HUMAN	Homo sapiens ribosome production factor 1 homolog (S. cerevisiae) (RPF1), mRNA.	311	Brix.|RNA-binding (By similarity).				rRNA processing|translation	nucleolus	ATP binding|aminoacyl-tRNA ligase activity|rRNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						ACTTGGACCACGTTTTACCTT	0.328													34	40					0	0	1	0	0	T	84961976	C	T	84961976	3	4	229	1	0	0	0	0	1	0	0	0	13546	536	19	1	961	1	RPF1	1	84961976	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	27583867	84961976	164288645	4	9586											
ATP1A2	477	broad.mit.edu	37	chr1	160099056	160099056	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcttgtctcttctggcagCgggacacagctggtgatgcc	6	12	12	11	1	3	1	0	1	3	0	4	2	3	2	1	3	3	2	1	3	0	3			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:160099056C>T	uc001fvc.3	+	11	1459	c.1327_splice	c.e11-1	p.R443_splice	ATP1A2_uc001fvb.2_Splice_Site_p.R443_splice|ATP1A2_uc001fvd.3_Splice_Site_p.R179_splice|ATP1A2_uc009wtg.1_Splice_Site_p.R131_splice	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	443					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTTCTGGCAGCGGGACACAGC	0.557													84	163					0	0	1	0	0	T	160099056	C	T	160099056	5	4	229	1	0	0	0	0	0	0	1	0	1129	782	27	1	1369	1	ATP1A2	1	160099056	Splice_Site	SNP	C	TCGA-HT-8104-01A-11D-2395-08	75137080	160099056	89151565	5	9587											
FASLG	356	broad.mit.edu	37	chr1	172628551	172628551	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctccactaccgctgccaccCctgaagaagagagggaacca	12	4	9	16	1	0	3	0	1	0	2	1	5	1	4	7	1	3	1	7	1	4	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:172628551C>A	uc001gis.3	+	0	367	c.210C>A	c.(208-210)ccC>ccA	p.P70P	FASLG_uc001git.3_Silent_p.P70P	NM_000639	NP_000630	P48023	TNFL6_HUMAN	Homo sapiens Fas ligand (TNF superfamily, member 6) (FASLG), mRNA.	70	Pro-rich.				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						cgctgccaccCCTGAAGAAGA	0.617													9	20					3.86212e-05	3.98157e-05	1	1	0	A	172628551	C	A	172628551	2	1	229	1	0	0	0	0	0	0	0	1	5682	610	22	5		5	FASLG	1	172628551	Silent	SNP	C	TCGA-HT-8104-01A-11D-2395-08	12529495	172628551	76622070	6	9588											
OR2G6	391211	broad.mit.edu	37	chr1	248685544	248685544	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actttcaacgaggcagaactCtttgtggccagtgtagtctt	9	13	10	9	1	3	1	1	0	2	1	3	2	3	1	1	2	2	2	1	2	3	4			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:248685544C>T	uc001ien.1	+	0	597	c.597C>T	c.(595-597)ctC>ctT	p.L199L		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGCAGAACTCTTTGTGGCCA	0.473													29	70					0	0	1	0	0	T	248685544	C	T	248685544	2	4	229	1	0	0	0	0	0	0	0	1	11000	900	32	3		3	OR2G6	1	248685544	Silent	SNP	C	TCGA-HT-8104-01A-11D-2395-08	76056993	248685544	565077	7	9589											
TTC27	55622	broad.mit.edu	37	chr2	32858959	32858959	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagacaacagttgatatttCtacttggtgtgagcagtttg	10	14	11	6	0	1	3	0	2	1	1	1	3	1	3	0	1	3	4	0	1	3	6			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:32858959C>G	uc002rom.3	+	2	556	c.283C>G	c.(283-285)Cta>Gta	p.L95V	TTC27_uc010ymx.2_Missense_Mutation_p.L45V|MIR4765_uc021vfs.1_5'Flank	NM_017735	NP_001180438	Q6P3X3	TTC27_HUMAN	Homo sapiens tetratricopeptide repeat domain 27 (TTC27), transcript variant 1, mRNA.	95							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						GTTGATATTTCTACTTGGTGT	0.368													22	97					0	0	1	0	0	G	32858959	C	G	32858959	3	3	229	1	0	0	0	0	1	0	0	0	16692	912	32	5	293	5	TTC27	2	32858959	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		32858959	210340414	8	9590											
THSD7B	80731	broad.mit.edu	37	chr2	138378230	138378230	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccctgcttggtggaatgcGtggtcaactgtcagctctca	6	13	11	11	1	3	0	3	0	1	0	5	1	4	1	1	3	4	2	1	3	2	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:138378230G>A	uc002tva.1	+	18	3643	c.3643G>A	c.(3643-3645)Gtg>Atg	p.V1215M	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGTGGAATGCGTGGTCAACTG	0.468													59	104					0	0	1	0	0	A	138378230	G	A	138378230	3	1	229	1	0	0	0	0	1	0	0	0	15877	1145	40	1	3719	1	THSD7B	2	138378230	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	105519271	138378230	104821143	9	9591											
EPC2	26122	broad.mit.edu	37	chr2	149528637	149528637	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatggaccgaatatccacAgaacatgacccagtcctgaa	16	7	7	11	1	0	3	0	2	0	1	2	5	2	4	4	1	1	0	4	1	5	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:149528637A>G	uc010zbt.2	+	9	1428	c.1401A>G	c.(1399-1401)acA>acG	p.T467T		NM_015630	NP_056445	Q52LR7	EPC2_HUMAN	Homo sapiens enhancer of polycomb homolog 2 (Drosophila) (EPC2), mRNA.	467					DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		GAATATCCACAGAACATGACC	0.383													18	22					0	0	1	0	0	G	149528637	A	G	149528637	2	3	229	1	0	0	0	0	0	0	0	1	5161	175	7	4		4	EPC2	2	149528637	Silent	SNP	A	TCGA-HT-8104-01A-11D-2395-08	11150407	149528637	93670736	10	9592											
LRP2	4036	broad.mit.edu	37	chr2	170038807	170038807	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaaagaggccatccaggcGggcatccaaccagtagagct	13	4	12	12	1	0	2	0	0	0	2	2	3	2	2	4	3	2	3	4	3	3	1	rs144973875		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:170038807G>A	uc002ues.3	-	50	10081	c.9868C>T	c.(9868-9870)Cgc>Tgc	p.R3290C		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3290					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity	p.R3290C(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCATCCAGGCGGGCATCCAAC	0.502													30	104					0	0	1	0	0	A	170038807	G	A	170038807	3	1	229	1	0	0	0	0	1	0	0	0	8956	1116	39	2	4215	2	LRP2	2	170038807	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	20510170	170038807	73160566	11	9593											
SF3B1	23451	broad.mit.edu	37	chr2	198267364	198267364	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatctgttgtacaatcttaaTaccagtgtgtctcgcttgcc	8	16	7	10	1	3	0	0	0	3	0	4	0	3	0	2	0	3	3	2	0	5	6			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:198267364T>A	uc002uue.3	-	13	2041	c.1993A>T	c.(1993-1995)Att>Ttt	p.I665F		NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	665					nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ACAATCTTAATACCAGTGTGT	0.408			Mis		myelodysplastic syndrome								13	68					0	0	1	0	0	A	198267364	T	A	198267364	3	1	229	1	0	0	0	0	1	0	0	0	14149	1406	49	5	1969	5	SF3B1	2	198267364	Missense_Mutation	SNP	T	TCGA-HT-8104-01A-11D-2395-08	28228557	198267364	44932009	12	9594											
MAP2	4133	broad.mit.edu	37	chr2	210558554	210558554	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgaaggagttggagctgcaAcatcagctgagcttgatatg	11	11	13	6	0	1	3	1	3	0	0	1	5	1	5	0	2	5	5	0	2	3	4			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:210558554A>G	uc002vde.1	+	6	1908	c.1660A>G	c.(1660-1662)Aca>Gca	p.T554A	MAP2_uc002vdc.1_Missense_Mutation_p.T554A|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.T550A	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	554					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TGGAGCTGCAACATCAGCTGA	0.368													5	142					0	0	1	0	0	G	210558554	A	G	210558554	3	3	229	1	0	0	0	0	1	0	0	0	9235	43	2	3	1674	3	MAP2	2	210558554	Missense_Mutation	SNP	A	TCGA-HT-8104-01A-11D-2395-08	12291190	210558554	32640819	13	9595											
IQCA1	79781	broad.mit.edu	37	chr2	237308067	237308067	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaactgacctttgtatgcgTtacatccttccttcattgca	9	16	5	11	1	1	1	1	1	0	0	3	1	3	1	3	0	4	3	3	0	4	7			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:237308067T>C	uc002vwb.2	-	8	1254	c.1220A>G	c.(1219-1221)aAc>aGc	p.N407S	IQCA1_uc002vvz.1_Missense_Mutation_p.N400S|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Missense_Mutation_p.N359S	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	400	Lys-rich.						ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTTGTATGCGTTACATCCTTC	0.463													5	109					0	0	1	0	0	C	237308067	T	C	237308067	3	2	229	1	0	0	0	0	1	0	0	0	7802	1725	60	3	1313	3	IQCA1	2	237308067	Missense_Mutation	SNP	T	TCGA-HT-8104-01A-11D-2395-08	26749513	237308067	5891306	14	9596											
COL6A3	1293	broad.mit.edu	37	chr2	238274357	238274357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaccttcacgctgtccggcGaggactgtctgaacttgttc	7	11	11	12	3	2	2	1	1	1	1	4	4	3	3	2	2	1	2	2	2	1	3			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:238274357G>A	uc002vwl.2	-	11	6107	c.5822C>T	c.(5821-5823)tCg>tTg	p.S1941L	COL6A3_uc002vwo.2_Missense_Mutation_p.S1735L|COL6A3_uc010znj.1_Missense_Mutation_p.S1334L	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1941	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCTGTCCGGCGAGGACTGTCT	0.552													31	52					0	0	1	0	0	A	238274357	G	A	238274357	3	1	229	1	0	0	0	0	1	0	0	0	3701	1059	37	2	3843	2	COL6A3	2	238274357	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	966290	238274357	4925016	15	9597											
GRK7	131890	broad.mit.edu	37	chr3	141497220	141497220	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgacagcaaagagctgcagCggcggcggcgtagcctggcc	8	3	17	13	5	0	1	0	0	0	1	0	2	0	1	2	4	5	4	2	4	2	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr3:141497220C>T	uc011bnd.2	+	0	178	c.94C>T	c.(94-96)Cgg>Tgg	p.R32W		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	32					visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						AGAGCTGCAGCGGCGGCGGCG	0.682													15	47					0	0	1	0	0	T	141497220	C	T	141497220	3	4	229	1	0	0	0	0	1	0	0	0	6794	759	27	1	96	1	GRK7	3	141497220	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		141497220	56525210	16	9598											
KIAA0232	9778	broad.mit.edu	37	chr4	6865324	6865324	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagccccagttttaaacCgaaatcaatcctctgttctg	10	14	5	12	1	4	0	2	0	2	0	5	1	5	0	4	0	2	2	4	0	4	4			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr4:6865324C>T	uc003gjr.4	+	6	3678	c.3215C>T	c.(3214-3216)cCg>cTg	p.P1072L	KIAA0232_uc003gjq.4_Missense_Mutation_p.P1072L	NM_014743	NP_055558	Q92628	K0232_HUMAN	Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.	1072							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AGTTTTAAACCGAAATCAATC	0.418													38	100					0	0	1	0	0	T	6865324	C	T	6865324	3	4	229	1	0	0	0	0	1	0	0	0	8163	652	23	2	3233	2	KIAA0232	4	6865324	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		6865324	184288952	17	9599											
GABRA4	2557	broad.mit.edu	37	chr4	46995377	46995377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaccgccaggcacaggaagCgcaggagggcgaaactgacc	14	1	14	12	3	0	1	0	1	0	0	0	4	0	3	3	4	3	2	3	4	3	0			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr4:46995377C>T	uc003gxg.3	-	0	1048	c.65G>A	c.(64-66)cGc>cAc	p.R22H	GABRA4_uc021xnz.1_Intron|GABRA4_uc021xoa.1_Intron	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	22					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCACAGGAAGCGCAGGAGGGC	0.592													51	85					0	0	1	0	0	T	46995377	C	T	46995377	3	4	229	1	0	0	0	0	1	0	0	0	6163	768	27	1	1635	1	GABRA4	4	46995377	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	40130053	46995377	144158899	18	9600											
LNX1	84708	broad.mit.edu	37	chr4	54327127	54327127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagagtaattcttcctttaaGttctttcagcagtcttgcca	9	17	6	9	0	4	1	1	0	3	1	5	1	5	1	2	0	2	3	2	0	3	9			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr4:54327127G>A	uc003hag.4	-	10	2390	c.2134C>T	c.(2134-2136)Ctt>Ttt	p.L712F	PDGFRA_uc003haa.3_Intron|LNX1_uc003haf.4_Missense_Mutation_p.L616F|LNX1_uc003hah.4_Non-coding_Transcript	NM_001126328	NP_001119800	Q8TBB1	LNX1_HUMAN	Homo sapiens ligand of numb-protein X 1 (LNX1), transcript variant 1, mRNA.	712	PDZ 4.					cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CTTCCTTTAAGTTCTTTCAGC	0.343													33	54					0	0	1	0	0	A	54327127	G	A	54327127	3	1	229	1	0	0	0	0	1	0	0	0	8865	1029	36	3	56	3	LNX1	4	54327127	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	7331750	54327127	136827149	19	9601											
KDR	3791	broad.mit.edu	37	chr4	55961110	55961110	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctttcccttgacggaatcGtgcccctttggtctataaaa	8	14	8	11	2	2	1	0	1	2	0	4	2	3	2	3	2	1	0	3	2	4	5			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr4:55961110G>A	uc003has.3	-	20	3132	c.2830C>T	c.(2830-2832)Cga>Tga	p.R944*	KDR_uc003hat.1_Nonsense_Mutation_p.R944*	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	944	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.R944R(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TGACGGAATCGTGCCCCTTTG	0.433			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			31	61					0	0	1	0	0	A	55961110	G	A	55961110	4	1	229	1	0	0	0	0	0	1	0	0	8139	1153	40	1	1280	1	KDR	4	55961110	Nonsense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	1633983	55961110	135193166	20	9602											
ADAMTS12	81792	broad.mit.edu	37	chr5	33683148	33683148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcgagtagaatgagcCgaaccacaacaatgtgaatt	14	10	8	9	2	1	3	0	2	1	1	2	5	1	3	2	0	3	1	2	0	6	4	rs61754760		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:33683148C>T	uc003jia.1	-	4	1053	c.890G>A	c.(889-891)cGg>cAg	p.R297Q	ADAMTS12_uc010iuq.1_Missense_Mutation_p.R297Q	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	297	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TAGAATGAGCCGAACCACAAC	0.433										HNSCC(64;0.19)			21	49					0	0	1	0	0	T	33683148	C	T	33683148	3	4	229	1	0	0	0	0	1	0	0	0	257	652	23	2	3974	2	ADAMTS12	5	33683148	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		33683148	147232112	21	9603											
SPEF2	79925	broad.mit.edu	37	chr5	35646854	35646854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctaaacctgcatcaaatcGtactttgaaagcactcgagg	13	10	7	11	2	1	1	1	1	0	0	4	2	2	1	2	1	4	3	2	1	5	3			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:35646854G>A	uc003jjo.3	+	4	782	c.671G>A	c.(670-672)cGt>cAt	p.R224H	SPEF2_uc003jjn.1_Missense_Mutation_p.R224H|SPEF2_uc003jjq.4_Missense_Mutation_p.R224H	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	224					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCATCAAATCGTACTTTGAAA	0.333													42	81					0	0	1	0	0	A	35646854	G	A	35646854	3	1	229	1	0	0	0	0	1	0	0	0	15034	1145	40	1	689	1	SPEF2	5	35646854	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	1963706	35646854	145268406	22	9604											
GZMK	3003	broad.mit.edu	37	chr5	54329739	54329739	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaaaagcaaccttgtcccGcctcatacaaattaagttac	15	10	4	12	1	2	0	2	0	0	0	3	0	3	0	3	0	4	2	3	0	7	4			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:54329739G>A	uc003jpl.1	+	4	824	c.780G>A	c.(778-780)ccG>ccA	p.P260P		NM_002104	NP_002095	P49863	GRAK_HUMAN	Homo sapiens granzyme K (granzyme 3; tryptase II) (GZMK), mRNA.	260					proteolysis	extracellular region	serine-type endopeptidase activity	p.P260P(2)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				ACCTTGTCCCGCCTCATACAA	0.408													17	47					0	0	1	0	0	A	54329739	G	A	54329739	2	1	229	1	0	0	0	0	0	0	0	1	6918	1074	38	1		1	GZMK	5	54329739	Silent	SNP	G	TCGA-HT-8104-01A-11D-2395-08	18682885	54329739	126585521	23	9605											
GPR98	84059	broad.mit.edu	37	chr5	89954001	89954001	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgtatatggaggagctcGtatttcggaagaaaatacta	13	13	10	5	2	1	1	0	0	1	1	3	4	1	4	0	3	2	3	0	3	8	7			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:89954001G>C	uc003kju.3	+	20	4754	c.4658G>C	c.(4657-4659)cGt>cCt	p.R1553P	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1553					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGAGGAGCTCGTATTTCGGAA	0.348													37	83					0	0	1	0	0	C	89954001	G	C	89954001	3	2	229	1	0	0	0	0	1	0	0	0	6721	1145	40	5	4740	5	GPR98	5	89954001	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	35624262	89954001	90961259	24	9606											
FAT2	2196	broad.mit.edu	37	chr5	150924339	150924339	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaagataggggtcaattcGgaaatatgtgtaatcttctg	12	12	10	7	1	3	1	1	0	2	1	4	2	3	2	1	3	0	1	1	3	6	5			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:150924339G>A	uc003lue.4	-	8	6362	c.6349C>T	c.(6349-6351)Cga>Tga	p.R2117*		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2117	Cadherin 18.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.R2117*(2)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGTCAATTCGGAAATATGTG	0.428													62	139					0	0	1	0	0	A	150924339	G	A	150924339	4	1	229	1	0	0	0	0	0	1	0	0	5690	1124	39	2	6760	2	FAT2	5	150924339	Nonsense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	60970338	150924339	29990921	25	9607											
FAM71B	153745	broad.mit.edu	37	chr5	156590151	156590151	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcgtaatactgcctgcaaaCgccgcactcaagctgctgtc	9	9	9	14	3	1	0	1	0	0	0	3	0	1	0	2	0	6	5	2	0	4	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:156590151C>T	uc003lwn.3	-	1	1225	c.1125G>A	c.(1123-1125)gcG>gcA	p.A375A		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	375						nucleus		p.A375V(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCCTGCAAACGCCGCACTCA	0.582													21	54					0	0	1	0	0	T	156590151	C	T	156590151	2	4	229	1	0	0	0	0	0	0	0	1	5608	523	19	1		1	FAM71B	5	156590151	Silent	SNP	C	TCGA-HT-8104-01A-11D-2395-08	5665812	156590151	24325109	26	9608											
EBF1	1879	broad.mit.edu	37	chr5	158158158	158158158	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccataatcgatggtgggttcGttgagcgctgcaataaagaa	12	10	12	7	3	0	2	0	1	0	1	2	3	0	2	1	2	2	4	1	2	5	4	rs146276323		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:158158158G>A	uc010jip.3	-	10	1346	c.1044C>T	c.(1042-1044)aaC>aaT	p.N348N	EBF1_uc011ddw.2_Silent_p.N216N|EBF1_uc011ddx.2_Silent_p.N349N|EBF1_uc003lxl.4_Silent_p.N317N	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Homo sapiens early B-cell factor 1 (EBF1), mRNA.	348					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGTGGGTTCGTTGAGCGCTG	0.448			T	HMGA2	lipoma								10	32					0	0	1	0	0	A	158158158	G	A	158158158	2	1	229	1	0	0	0	0	0	0	0	1	4880	1136	40	1		1	EBF1	5	158158158	Silent	SNP	G	TCGA-HT-8104-01A-11D-2395-08	1568007	158158158	22757102	27	9609											
TLX3	30012	broad.mit.edu	37	chr5	170738554	170738554	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctctgcagaatctgcagcCctgggaggaggatagttcca	9	9	13	10	0	2	1	0	0	2	1	3	4	3	4	2	3	4	4	2	3	2	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:170738554C>A	uc003mbf.3	+	2	909	c.827C>A	c.(826-828)cCc>cAc	p.P276H	AX746723_uc003mbe.1_5'Flank	NM_021025	NP_066305	O43711	TLX3_HUMAN	Homo sapiens T-cell leukemia homeobox 3 (TLX3), mRNA.	276						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AATCTGCAGCCCTGGGAGGAG	0.637			T	BCL11B	T-ALL								11	15					4.3838e-07	4.61453e-07	1	1	0	A	170738554	C	A	170738554	3	1	229	1	0	0	0	0	1	0	0	0	15959	623	22	5	837	5	TLX3	5	170738554	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	12580396	170738554	10176706	28	9610											
NMBR	4829	broad.mit.edu	37	chr6	142397176	142397176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caattttagccaggcgtttcCgtgtttccatctgcaaatat	9	15	7	10	2	1	0	0	0	1	0	3	0	3	0	3	1	2	3	3	1	4	5			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr6:142397176C>T	uc003qiu.3	-	2	923	c.782G>A	c.(781-783)cGg>cAg	p.R261Q		NM_002511	NP_002502	P28336	NMBR_HUMAN	Homo sapiens neuromedin B receptor (NMBR), mRNA.	261					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CAGGCGTTTCCGTGTTTCCAT	0.378													24	50					0	0	1	0	0	T	142397176	C	T	142397176	3	4	229	1	0	0	0	0	1	0	0	0	10487	652	23	2	394	2	NMBR	6	142397176	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		142397176	28717891	29	9611											
EGFR	1956	broad.mit.edu	37	chr7	55241722	55241722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggctccggtgcgttcGgcacggtgtataaggtaagg	6	10	17	8	4	0	0	0	0	0	0	2	0	1	0	1	6	2	6	1	6	3	4			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr7:55241722G>A	uc003tqk.3	+	17	2416	c.2170G>A	c.(2170-2172)Ggc>Agc	p.G724S	EGFR_uc022adm.1_Missense_Mutation_p.G724S|EGFR_uc010kzg.2_Missense_Mutation_p.G679S|EGFR_uc022adn.1_Missense_Mutation_p.G679S|EGFR_uc011kco.2_Missense_Mutation_p.G671S	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	724	Protein kinase.		G -> S (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G724S(6)|p.F723F(2)|p.F723S(1)|p.F723L(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CGGTGCGTTCGGCACGGTGTA	0.562		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			123	1881					0	0	1	0	0	A	55241722	G	A	55241722	3	1	229	1	0	0	0	0	1	0	0	0	4967	1116	39	2	2504	2	EGFR	7	55241722	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08		55241722	103896941	30	9612											
EGFR	1956	broad.mit.edu	37	chr7	55260473	55260473	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccaaggtgcctatcaagtgGatggcattggaatcaatttt	11	12	10	8	0	2	0	2	0	0	0	2	2	2	2	2	4	1	1	2	4	5	4			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr7:55260473G>A	uc003tqk.3	+	21	2886	c.2640G>A	c.(2638-2640)tgG>tgA	p.W880*	EGFR_uc022adm.1_Nonsense_Mutation_p.W880*|EGFR_uc010kzg.2_Nonsense_Mutation_p.W835*|EGFR_uc022adn.1_Nonsense_Mutation_p.W835*|EGFR_uc011kco.2_Nonsense_Mutation_p.W827*	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	880	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A859_L883>V(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CTATCAAGTGGATGGCATTGG	0.433		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			44	1857					0	0	1	0	0	A	55260473	G	A	55260473	4	1	229	1	0	0	0	0	0	1	0	0	4967	1183	41	3	2990	3	EGFR	7	55260473	Nonsense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	18751	55260473	103878190	31	9613											
RP1	6101	broad.mit.edu	37	chr8	55534023	55534023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaatggcgacccgaagaCgaggcgtgcggttcttctga	9	7	15	10	5	2	2	0	1	2	1	2	6	2	3	1	4	1	1	1	4	2	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr8:55534023C>T	uc003xsd.1	+	1	645	c.497C>T	c.(496-498)aCg>aTg	p.T166M	RP1_uc011ldy.1_Missense_Mutation_p.T166M	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	166	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.T166M(2)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GACCCGAAGACGAGGCGTGCG	0.642													48	98					0	0	1	0	0	T	55534023	C	T	55534023	3	4	229	1	0	0	0	0	1	0	0	0	13532	536	19	1	499	1	RP1	8	55534023	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		55534023	90829999	32	9614											
CA13	377677	broad.mit.edu	37	chr8	86180769	86180769	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcctgggactactggacAtatcctggttctcttacagt	8	13	8	12	0	1	0	0	0	1	0	4	2	3	2	3	3	2	1	3	3	3	4	rs143754749		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr8:86180769A>G	uc003ydg.2	+	5	924	c.582A>G	c.(580-582)acA>acG	p.T194T	CA13_uc003ydf.1_Non-coding_Transcript	NM_198584	NP_940986	Q8N1Q1	CAH13_HUMAN	Homo sapiens carbonic anhydrase XIII (CA13), mRNA.	194					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			large_intestine(1)|lung(6)	7						ACTACTGGACATATCCTGGTT	0.403													7	137					0	0	1	0	0	G	86180769	A	G	86180769	2	3	229	1	0	0	0	0	0	0	0	1	2514	204	8	3		3	CA13	8	86180769	Silent	SNP	A	TCGA-HT-8104-01A-11D-2395-08	30646746	86180769	60183253	33	9615											
PARP10	84875	broad.mit.edu	37	chr8	145057683	145057683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggctcttctgcctccaacgGgggctgctccagcagggaga	6	7	15	13	1	2	1	0	0	2	1	4	2	4	1	3	4	4	4	3	4	1	1	rs146697146	byFrequency	TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr8:145057683G>A	uc003zal.4	-	7	2182	c.2074C>T	c.(2074-2076)Ccg>Tcg	p.P692S	PARP10_uc003zak.4_Missense_Mutation_p.P389S|PARP10_uc011lku.2_Missense_Mutation_p.P704S|PARP10_uc011lkv.2_Non-coding_Transcript|PARP10_uc003zam.2_Missense_Mutation_p.P683S	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 10 (PARP10), mRNA.	692	Glu-rich.					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCTCCAACGGGGGCTGCTCC	0.677													6	23					0	0	1	0	0	A	145057683	G	A	145057683	3	1	229	1	0	0	0	0	1	0	0	0	11455	1232	43	3	1019	3	PARP10	8	145057683	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	58876914	145057683	1306339	34	9616											
PGM5	5239	broad.mit.edu	37	chr9	70993121	70993121	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggatggtttagattggaCgactgattattggacagaat	11	15	12	3	1	0	3	0	1	0	2	0	7	0	6	0	4	0	1	0	4	3	6			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr9:70993121C>T	uc004agr.3	+	1	497	c.268C>T	c.(268-270)Cga>Tga	p.R90*		NM_021965	NP_068800	Q15124	PGM5_HUMAN	Homo sapiens phosphoglucomutase 5 (PGM5), mRNA.	90					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	Z disc|costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						TTAGATTGGACGACTGATTAT	0.443													20	56					0	0	1	0	0	T	70993121	C	T	70993121	4	4	229	1	0	0	0	0	0	1	0	0	11801	528	19	1	274	1	PGM5	9	70993121	Nonsense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		70993121	70220310	35	9617											
GOLGA2	2801	broad.mit.edu	37	chr9	131019389	131019390	+	Frame_Shift_Ins	INS	-	-	A																															atcattctcgtcagcccggtINSaaaaaaaaggaatgcagggg																										TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr9:131019389_131019390insA	uc011maw.2	-	25	2978_2979	c.2965_2966insT	c.(2965-2967)tacfs	p.Y989fs	GOLGA2_uc010mxw.3_Frame_Shift_Ins_p.Y312fs|GOLGA2_uc004buh.3_Frame_Shift_Ins_p.Y339fs|DQ583972_uc022boe.1_5'Flank	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Homo sapiens golgin A2 (GOLGA2), mRNA.	989						Golgi cisterna membrane	protein binding	p.Y977fs*9(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						GTCAGCCCGGTAAAAAAAAGGA	0.564													7	220	---	---	---	---						A	131019390	-	A	131019389	7	5	229	1	0	1	1	0	0	0	0	0	6552	1638	57	0	46	0	GOLGA2	9	131019389	Frame_Shift_Ins	INS	-	TCGA-HT-8104-01A-11D-2395-08	60026268	131019389	10194042	36	9618											
PTEN	5728	broad.mit.edu	37	chr10	89624301	89624301	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggattcgacttagacttGacctgtatccatttctgcgg	8	14	10	9	2	1	2	0	1	1	1	3	5	2	3	2	2	1	1	2	2	2	5			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr10:89624301G>T	uc001kfb.3	+	0	1107	c.75G>T	c.(73-75)ttG>ttT	p.L25F	PTEN_uc021pvw.1_Non-coding_Transcript|KLLN_uc009xti.3_5'Flank	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	25	Phosphatase tensin-type.				T cell receptor signaling pathway|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 G1/S transition of mitotic cell cycle|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 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	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion 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.0?(37)|p.?(13)|p.D24Y(5)|p.D24G(4)|p.L25F(3)|p.D24E(2)|p.D24N(2)|p.D24fs*19(2)|p.D24fs*20(2)|p.L25fs*28(2)|p.D24_L25del(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)		ACTTAGACTTGACCTGTATCC	0.458		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)			38	28					1.30015e-28	1.44461e-28	1	1	0	T	89624301	G	T	89624301	3	4	229	1	0	0	0	0	1	0	0	0	12738	1281	45	5	77	5	PTEN	10	89624301	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08		89624301	45910446	37	9619											
MUC6	4588	broad.mit.edu	37	chr11	1026378	1026378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccagggtaggagacccccGagaactcacatgggcactcc	10	5	11	15	1	1	2	1	0	0	2	3	4	3	2	4	3	1	2	4	3	2	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr11:1026378G>A	uc001lsw.2	-	19	2546	c.2495C>T	c.(2494-2496)tCg>tTg	p.S832L		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	832					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAGACCCCCGAGAACTCACA	0.652													17	22					0	0	1	0	0	A	1026378	G	A	1026378	3	1	229	1	0	0	0	0	1	0	0	0	9980	1059	37	2	4880	2	MUC6	11	1026378	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08		1026378	133980138	38	9620											
CACNA2D4	93589	broad.mit.edu	37	chr12	1995491	1995491	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttcatactgccgctcacGtccaccaaaatcactatgtc	10	10	4	17	2	3	0	3	0	0	0	5	0	4	0	4	0	2	1	4	0	4	3			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr12:1995491G>A	uc021qsx.1	-	7	1122	c.891C>T	c.(889-891)gaC>gaT	p.D297D	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Intron	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	297	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TGCCGCTCACGTCCACCAAAA	0.488													28	41					0	0	1	0	0	A	1995491	G	A	1995491	2	1	229	1	0	0	0	0	0	0	0	1	2551	1136	40	1		1	CACNA2D4	12	1995491	Silent	SNP	G	TCGA-HT-8104-01A-11D-2395-08		1995491	131856404	39	9621											
TRHDE	29953	broad.mit.edu	37	chr12	72893328	72893328	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaagtgatgctgctggaCggtttggccagttcccatcc	7	11	12	11	1	0	2	0	2	0	0	2	3	2	3	3	3	2	4	3	3	1	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr12:72893328C>T	uc001sxa.3	+	5	1530	c.1500C>T	c.(1498-1500)gaC>gaT	p.D500D		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	500					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.D500D(2)|p.D500N(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGCTGCTGGACGGTTTGGCCA	0.458													34	50					0	0	1	0	0	T	72893328	C	T	72893328	2	4	229	1	0	0	0	0	0	0	0	1	16476	535	19	1		1	TRHDE	12	72893328	Silent	SNP	C	TCGA-HT-8104-01A-11D-2395-08	70897837	72893328	60958567	40	9622											
WSCD2	9671	broad.mit.edu	37	chr12	108589925	108589925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgagagagccaagcttggcGactacggtggagcctggagc	10	6	16	9	2	0	2	0	1	0	1	0	6	0	4	2	4	5	1	2	4	2	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr12:108589925G>A	uc001tms.3	+	1	1060	c.316G>A	c.(316-318)Gac>Aac	p.D106N	WSCD2_uc001tmt.3_Missense_Mutation_p.D106N	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	106						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CAAGCTTGGCGACTACGGTGG	0.607													31	54					0	0	1	0	0	A	108589925	G	A	108589925	3	1	229	1	0	0	0	0	1	0	0	0	17404	1058	37	2	318	2	WSCD2	12	108589925	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	35696597	108589925	25261970	41	9623											
ADCY4	196883	broad.mit.edu	37	chr14	24793338	24793338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggctattctcagtcctggtCgtgtggccaccaggccagac	7	9	12	13	1	1	1	1	0	1	1	4	1	2	1	4	4	0	1	4	4	1	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr14:24793338C>T	uc001wow.3	-	15	2395	c.1976G>A	c.(1975-1977)cGa>cAa	p.R659Q	ADCY4_uc010toh.2_Missense_Mutation_p.R345Q|ADCY4_uc001wox.3_Missense_Mutation_p.R659Q|ADCY4_uc001woy.3_Missense_Mutation_p.R659Q	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	659					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CAGTCCTGGTCGTGTGGCCAC	0.622													18	46					0	0	1	0	0	T	24793338	C	T	24793338	3	4	229	1	0	0	0	0	1	0	0	0	296	884	31	2	1297	2	ADCY4	14	24793338	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		24793338	82556202	42	9624											
PML	5371	broad.mit.edu	37	chr15	74315324	74315324	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgcaggagcaggatagtgCctttggcgcggttcacgcgc	6	8	16	11	4	1	0	1	0	0	0	1	2	1	2	1	4	3	4	1	4	1	3			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr15:74315324C>A	uc002awv.3	+	2	898	c.758C>A	c.(757-759)gCc>gAc	p.A253D	PML_uc002awj.1_Missense_Mutation_p.A253D|PML_uc002awm.3_Missense_Mutation_p.A253D|PML_uc002awl.3_Missense_Mutation_p.A253D|PML_uc002awk.3_Missense_Mutation_p.A253D|PML_uc002awn.3_Missense_Mutation_p.A253D|PML_uc002awo.3_Missense_Mutation_p.A253D|PML_uc002awp.3_Missense_Mutation_p.A253D|PML_uc002awq.3_Missense_Mutation_p.A253D|PML_uc002awr.3_Missense_Mutation_p.A253D|PML_uc002aws.3_Missense_Mutation_p.A253D|PML_uc002awt.3_Missense_Mutation_p.A253D|PML_uc002awu.3_Missense_Mutation_p.A253D|PML_uc010ule.2_Intron|PML_uc002aww.1_Missense_Mutation_p.A168D|PML_uc002awx.3_Missense_Mutation_p.A11D|PML_uc002awy.3_5'Flank	NM_033238	NP_150241	P29590	PML_HUMAN	Homo sapiens promyelocytic leukemia (PML), transcript variant 1, mRNA.	253					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 resulting in induction of apoptosis|PML body organization|cell cycle arrest|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	PML body|cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus	DNA binding|SUMO binding|cobalt ion binding|protein binding|protein heterodimerization activity|protein homodimerization activity|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CAGGATAGTGCCTTTGGCGCG	0.687			T	"RARA, PAX5"	"APL, ALL"								13	20					4.3838e-07	4.61453e-07	1	1	0	A	74315324	C	A	74315324	3	1	229	1	0	0	0	0	1	0	0	0	12135	739	26	5	768	5	PML	15	74315324	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		74315324	28216068	43	9625											
CYP1A2	1544	broad.mit.edu	37	chr15	75042332	75042332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcattggctccacgcccGtgctggtgctgagccgcctg	3	9	13	16	4	0	1	0	1	0	0	2	1	2	1	5	2	3	4	5	2	0	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr15:75042332G>A	uc002ayr.1	+	1	317	c.253G>A	c.(253-255)Gtg>Atg	p.V85M		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	85					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CTCCACGCCCGTGCTGGTGCT	0.667													30	57					0	0	1	0	0	A	75042332	G	A	75042332	3	1	229	1	0	0	0	0	1	0	0	0	4150	1145	40	1	255	1	CYP1A2	15	75042332	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	727008	75042332	27489060	44	9626											
ASB7	140460	broad.mit.edu	37	chr15	101170214	101170214	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taagtatttctggaagtagtCgaccatgtttggatttctta	10	17	9	5	1	2	0	0	0	2	0	3	3	2	2	1	2	0	3	1	2	5	7			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr15:101170214C>T	uc002bwk.3	+	4	1553	c.784C>T	c.(784-786)Cga>Tga	p.R262*	ASB7_uc002bwj.3_Nonsense_Mutation_p.R262*	NM_198243	NP_937886	Q9H672	ASB7_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 7 (ASB7), transcript variant 2, mRNA.	262					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)	16	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			TGGAAGTAGTCGACCATGTTT	0.358													30	46					0	0	1	0	0	T	101170214	C	T	101170214	4	4	229	1	0	0	0	0	0	1	0	0	1028	876	31	2	790	2	ASB7	15	101170214	Nonsense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	26127882	101170214	1361178	45	9627											
IFT140	9742	broad.mit.edu	37	chr16	1568282	1568282	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagacgtccccgatgcggaTggtgctgtccaggtctggtt	6	11	14	10	3	1	1	0	0	1	1	3	3	3	2	3	4	2	2	3	4	1	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr16:1568282T>C	uc002cmb.3	-	29	4479	c.4117A>G	c.(4117-4119)Atc>Gtc	p.I1373V	IFT140_uc002clz.3_Missense_Mutation_p.I986V	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	1373										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CCGATGCGGATGGTGCTGTCC	0.602													20	37					0	0	1	0	0	C	1568282	T	C	1568282	3	2	229	1	0	0	0	0	1	0	0	0	7556	1464	51	3	279	3	IFT140	16	1568282	Missense_Mutation	SNP	T	TCGA-HT-8104-01A-11D-2395-08		1568282	88786471	46	9628											
DNAH3	55567	broad.mit.edu	37	chr16	21049263	21049263	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgagaggacagttgttcCgagcacaggcggtaggtcgc	8	8	16	9	3	0	1	0	1	0	1	2	4	1	2	1	4	2	5	1	4	1	3			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr16:21049263C>T	uc010vbe.2	-	33	4770	c.4770G>A	c.(4768-4770)tcG>tcA	p.S1590S		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1590	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACAGTTGTTCCGAGCACAGGC	0.547													16	29					0	0	1	0	0	T	21049263	C	T	21049263	2	4	229	1	0	0	0	0	0	0	0	1	4603	639	23	2		2	DNAH3	16	21049263	Silent	SNP	C	TCGA-HT-8104-01A-11D-2395-08	19480981	21049263	69305490	47	9629											
AMFR	267	broad.mit.edu	37	chr16	56396893	56396893	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttcgacgcagggtcacgggGtcagaggacgcaccttccga	8	6	14	13	5	2	1	2	0	0	1	4	4	3	2	2	4	0	2	2	4	0	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr16:56396893G>A	uc002eiy.3	-	13	2065	c.1860C>T	c.(1858-1860)gaC>gaT	p.D620D	AMFR_uc002eix.3_Silent_p.D254D	NM_001144	NP_001135	Q9UKV5	AMFR2_HUMAN	Homo sapiens autocrine motility factor receptor (AMFR), mRNA.	620					ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						GGGTCACGGGGTCAGAGGACG	0.567													29	16					0	0	1	0	0	A	56396893	G	A	56396893	2	1	229	1	0	0	0	0	0	0	0	1	571	1252	44	3		3	AMFR	16	56396893	Silent	SNP	G	TCGA-HT-8104-01A-11D-2395-08	35347630	56396893	33957860	48	9630											
MYH13	8735	broad.mit.edu	37	chr17	10223518	10223518	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaactgtggacttgttcGtcatctattttggcttgtaa	8	17	9	7	1	2	0	1	0	1	0	3	1	2	1	0	2	2	4	0	2	3	7			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr17:10223518G>A	uc002gmk.1	-	25	3390	c.3300C>T	c.(3298-3300)gaC>gaT	p.D1100D	MYH13_uc010vve.1_3'UTR	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1100					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GGACTTGTTCGTCATCTATTT	0.388													6	11					0	0	1	0	0	A	10223518	G	A	10223518	2	1	229	1	0	0	0	0	0	0	0	1	10032	1136	40	1		1	MYH13	17	10223518	Silent	SNP	G	TCGA-HT-8104-01A-11D-2395-08		10223518	70971692	49	9631											
MYH13	8735	broad.mit.edu	37	chr17	10248554	10248554	+	Frame_Shift_Del	DEL	T	T	-																															gatgcaggcagccaggtccaTtccgaagtcaatgaactccc																										TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr17:10248554delT	uc002gmk.1	-	14	1639	c.1549delA	c.(1549-1551)atgfs	p.M517fs	MYH13_uc010vvf.1_Frame_Shift_Del_p.M192fs	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	517	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCCAGGTCCATTCCGAAGTCA	0.522													13	181	---	---	---	---						-	10248554	T	-	10248554	7	5	229	1	0	1	0	1	0	0	0	0	10032	1493	52	0	4375	0	MYH13	17	10248554	Frame_Shift_Del	DEL	T	TCGA-HT-8104-01A-11D-2395-08	25036	10248554	70946656	50	9632											
SUZ12	23512	broad.mit.edu	37	chr17	30303572	30303572	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcttccagccagaagaaaaCgaaatcgtgaggatggggaa	16	5	13	7	2	0	3	0	1	0	2	2	6	1	5	2	3	3	1	2	3	5	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr17:30303572C>T	uc002hgs.2	+	7	1078	c.856C>T	c.(856-858)Cga>Tga	p.R286*	SUZ12_uc002hgt.2_Nonsense_Mutation_p.R263*	NM_015355	NP_056170	Q15022	SUZ12_HUMAN	Homo sapiens suppressor of zeste 12 homolog (Drosophila) (SUZ12), mRNA.	286					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding	p.R286*(2)	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				CAGAAGAAAACGAAATCGTGA	0.343			T	JAZF1	endometrial stromal tumours								3	49					0	0	1	0	0	T	30303572	C	T	30303572	4	4	229	1	0	0	0	0	0	1	0	0	15413	528	19	1	886	1	SUZ12	17	30303572	Nonsense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	20055018	30303572	50891638	51	9633											
KRT16	3868	broad.mit.edu	37	chr17	39768742	39768742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaagccaccgccatagcCgccccccagcccgcaggctc	7	3	10	21	3	0	1	0	1	0	0	1	1	0	1	8	1	3	3	8	1	2	1	rs62066634	byFrequency	TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr17:39768742C>T	uc002hxg.4	-	0	338	c.199G>A	c.(199-201)Ggc>Agc	p.G67S	JUP_uc010wfs.2_Intron|KRT16_uc021txm.1_Missense_Mutation_p.G67S	NM_005557	NP_005548	P08779	K1C16_HUMAN	Homo sapiens keratin 16 (KRT16), mRNA.	67	Head.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				CCGCCATAGCCGCCCCCCAGC	0.692													5	14					0	0	1	0	0	T	39768742	C	T	39768742	3	4	229	1	0	0	0	0	1	0	0	0	8453	652	23	2	1254	2	KRT16	17	39768742	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	9465170	39768742	41426468	52	9634											
GATA6	2627	broad.mit.edu	37	chr18	19751314	19751314	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagctcgacacggaggcggCggccggacccccggcccgct	5	3	15	18	7	1	0	1	0	0	0	2	3	1	2	4	6	1	2	4	6	0	0			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr18:19751314C>A	uc002ktt.1	+	1	474	c.209C>A	c.(208-210)gCg>gAg	p.A70E	GATA6_uc002ktu.1_Missense_Mutation_p.A70E	NM_005257	NP_005248	Q92908	GATA6_HUMAN	Homo sapiens GATA binding protein 6 (GATA6), mRNA.	70					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			ACGGAGGCGGCGGCCGGACCC	0.761													6	17					5.9392e-07	6.18667e-07	1	1	0	A	19751314	C	A	19751314	3	1	229	1	0	0	0	0	1	0	0	0	6258	768	27	5	211	5	GATA6	18	19751314	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		19751314	58325934	53	9635											
DSG2	1829	broad.mit.edu	37	chr18	29126335	29126335	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagagtaatacagcctcatGggggtggatcgaatcctctg	12	9	12	8	1	2	1	1	0	1	1	4	3	3	2	2	3	2	1	2	3	4	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr18:29126335G>T	uc002kwu.4	+	14	3174	c.2986G>T	c.(2986-2988)Ggg>Tgg	p.G996W	LOC100652770_uc002kwv.4_Intron	NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	996					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			ACAGCCTCATGGGGGTGGATC	0.498													5	77					0.014758	0.0149071	1	1	0	T	29126335	G	T	29126335	3	4	229	1	0	0	0	0	1	0	0	0	4777	1348	47	5	3044	5	DSG2	18	29126335	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	9375021	29126335	48950913	54	9636											
MKNK2	2872	broad.mit.edu	37	chr19	2043519	2043519	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacctgtgtccctggcactgGtacagcatctccacctccct	6	11	7	17	0	1	0	0	0	1	0	4	0	3	0	5	2	3	3	5	2	2	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:2043519G>A	uc002lus.2	-	5	647	c.402C>T	c.(400-402)taC>taT	p.Y134Y	MKNK2_uc002luq.1_5'Flank|MKNK2_uc010xgu.1_5'UTR|MKNK2_uc010xgv.1_Silent_p.Y3Y|MKNK2_uc002lur.2_Silent_p.Y134Y|MKNK2_uc002lut.1_5'Flank	NM_199054	NP_951009	Q9HBH9	MKNK2_HUMAN	Homo sapiens MAP kinase interacting serine/threonine kinase 2 (MKNK2), transcript variant 2, mRNA.	134	Protein kinase.				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|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)		CCTGGCACTGGTACAGCATCT	0.587													19	59					0	0	1	0	0	A	2043519	G	A	2043519	2	1	229	1	0	0	0	0	0	0	0	1	9605	1256	44	3		3	MKNK2	19	2043519	Silent	SNP	G	TCGA-HT-8104-01A-11D-2395-08		2043519	57085464	55	9637											
RNASEH2A	10535	broad.mit.edu	37	chr19	12920991	12920991	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagcagatgccctctaccCggtggttagtgctgccagca	9	8	11	13	1	1	1	0	0	1	1	1	1	1	1	3	2	6	4	3	2	3	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:12920991C>T	uc002mvg.1	+	4	578	c.518C>T	c.(517-519)cCg>cTg	p.P173L		NM_006397	NP_006388	O75792	RNH2A_HUMAN	Homo sapiens ribonuclease H2, subunit A (RNASEH2A), mRNA.	173					DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	RNA binding|metal ion binding|ribonuclease H activity			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						GCCCTCTACCCGGTGGTTAGT	0.582													35	112					0	0	1	0	0	T	12920991	C	T	12920991	3	4	229	1	0	0	0	0	1	0	0	0	13412	652	23	2	536	2	RNASEH2A	19	12920991	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	10877472	12920991	46207992	56	9638											
ZNF492	57615	broad.mit.edu	37	chr19	22817127	22817127	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttccgggatgtggcggggTctttgtctctcgctgcagtc	2	13	15	11	3	2	0	0	0	2	0	6	1	3	1	1	4	1	3	1	4	0	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:22817127T>G	uc002nqw.3	+	1	1	c.-243_splice	c.e1-1			NM_020855	NP_065906	Q9P255	ZN492_HUMAN	Homo sapiens zinc finger protein 492 (ZNF492), mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TGTGGCGGGGTCTTTGTCTCT	0.597													7	11					0	0	1	0	0	G	22817127	T	G	22817127	5	3	229	1	0	0	0	0	0	0	1	0	17940	1681	58	5		5	ZNF492	19	22817127	Splice_Site	SNP	T	TCGA-HT-8104-01A-11D-2395-08	9896136	22817127	36311856	57	9639											
CYP2S1	29785	broad.mit.edu	37	chr19	41703792	41703792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgaggagctgatccaggCggaggcccggtgtctggtgg	6	6	20	9	3	1	1	0	1	1	0	2	4	2	3	2	8	1	1	2	8	0	0	rs148695011		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:41703792C>T	uc002opw.3	+	2	507	c.452C>T	c.(451-453)gCg>gTg	p.A151V	CYP2S1_uc010xvx.2_Intron	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA.	151					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CTGATCCAGGCGGAGGCCCGG	0.622													9	44					0	0	1	0	0	T	41703792	C	T	41703792	3	4	229	1	0	0	0	0	1	0	0	0	4174	768	27	1	462	1	CYP2S1	19	41703792	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	18886665	41703792	17425191	58	9640											
ZNF665	79788	broad.mit.edu	37	chr19	53668011	53668011	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttgaatgtacactaaatgCtttgccgcactcattacact	11	14	6	10	1	1	1	1	1	0	0	1	1	1	1	1	0	4	4	1	0	5	5			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:53668011C>G	uc010eqm.1	-	3	1832	c.1732G>C	c.(1732-1734)Gca>Cca	p.A578P		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		ACACTAAATGCTTTGCCGCAC	0.398													24	164					0	0	1	0	0	G	53668011	C	G	53668011	3	3	229	1	0	0	0	0	1	0	0	0	18070	797	28	5	308	5	ZNF665	19	53668011	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	11964219	53668011	5460972	59	9641											
NLRP11	204801	broad.mit.edu	37	chr19	56321356	56321356	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggagcctggccgtcaggcCagtccttggcgattagctca	6	9	14	12	2	2	0	2	0	0	0	3	2	3	1	4	4	2	1	4	4	1	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:56321356C>G	uc010ygf.2	-	4	1331	c.620G>C	c.(619-621)tGg>tCg	p.W207S	NLRP11_uc002qlz.3_Missense_Mutation_p.W108S|NLRP11_uc002qmb.3_Missense_Mutation_p.W108S|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	207	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GCCGTCAGGCCAGTCCTTGGC	0.498													44	66					0	0	1	0	0	G	56321356	C	G	56321356	3	3	229	1	0	0	0	0	1	0	0	0	10473	595	21	5	2513	5	NLRP11	19	56321356	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	2653345	56321356	2807627	60	9642											
AHCY	191	broad.mit.edu	37	chr20	32873405	32873405	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgaccctcggccagcaggatGatgcggcgcccattcttcaa	8	7	11	15	4	2	1	1	1	1	0	3	3	2	2	3	3	2	1	3	3	1	2	rs139344907	byFrequency	TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr20:32873405G>A	uc002xai.3	-	8	1147	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	AHCY_uc002xaj.3_Silent_p.I308I	NM_000687	NP_001155238	P23526	SAHH_HUMAN	Homo sapiens adenosylhomocysteinase (AHCY), transcript variant 1, mRNA.	336					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CCAGCAGGATGATGCGGCGCC	0.632													9	134					0	0	1	0	0	A	32873405	G	A	32873405	2	1	229	1	0	0	0	0	0	0	0	1	409	1280	45	3		3	AHCY	20	32873405	Silent	SNP	G	TCGA-HT-8104-01A-11D-2395-08		32873405	30152115	61	9643											
RIPK4	54101	broad.mit.edu	37	chr21	43161012	43161012	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagctaggtcttgcttcGccgcaggagcgtggcggcgg	5	7	17	12	5	1	0	0	0	1	0	2	1	1	1	2	5	4	3	2	5	1	3			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr21:43161012G>A	uc002yzn.1	-	7	2389	c.2341C>T	c.(2341-2343)Cga>Tga	p.R781*		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	781						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTCTTGCTTCGCCGCAGGAGC	0.672													15	40					0	0	1	0	0	A	43161012	G	A	43161012	4	1	229	1	0	0	0	0	0	1	0	0	13383	1095	38	1	17	1	RIPK4	21	43161012	Nonsense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08		43161012	4968883	62	9644											
APEX2	27301	broad.mit.edu	37	chrX	55033742	55033742	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccacagggagccatgtgtGatgcgtactgtgaagaagcc	10	7	15	9	1	0	3	0	2	0	1	0	4	0	4	3	2	4	1	3	2	3	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:55033742G>T	uc004dtz.3	+	5	1507	c.1431G>T	c.(1429-1431)gtG>gtT	p.V477V	APEX2_uc011mom.2_Silent_p.V306V	NM_014481	NP_055296	Q9UBZ4	APEX2_HUMAN	Homo sapiens APEX nuclease (apurinic/apyrimidinic endonuclease) 2 (APEX2), nuclear gene encoding mitochondrial protein, mRNA.	477					DNA recombination|DNA repair|cell cycle	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						AGCCATGTGTGATGCGTACTG	0.622								Other BER factors					21	37					2.37509e-13	2.58162e-13	1	1	0	T	55033742	G	T	55033742	2	4	229	1	0	0	0	0	0	0	0	1	770	1277	45	5		5	APEX2	23	55033742	Silent	SNP	G	TCGA-HT-8104-01A-11D-2395-08		55033742	100236818	63	9645											
ZMYM3	9203	broad.mit.edu	37	chrX	70464671	70464671	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcggggaaggtcttgttcaGtagacacatcctcaggccct	8	11	11	11	1	3	1	2	0	1	1	5	2	4	2	2	4	0	2	2	4	2	4			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:70464671G>C	uc004dzh.2	-	18	3259	c.3080C>G	c.(3079-3081)aCt>aGt	p.T1027S	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Missense_Mutation_p.T1027S|ZMYM3_uc004dzj.2_Missense_Mutation_p.T1015S	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	1027					multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.T1027fs*9(2)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GTCTTGTTCAGTAGACACATC	0.478													8	27					0	0	1	0	0	C	70464671	G	C	70464671	3	2	229	1	0	0	0	0	1	0	0	0	17698	1029	36	5	1060	5	ZMYM3	23	70464671	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	15430929	70464671	84805889	64	9646											
RPS4X	6191	broad.mit.edu	37	chrX	71493768	71493768	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggcatcatgagtcaccaGatgagggattccttttgtgc	8	11	13	9	1	2	3	2	2	0	1	3	4	3	4	2	2	1	1	2	2	0	3			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:71493768G>T	uc004ear.3	-	4	511	c.415C>A	c.(415-417)Ctg>Atg	p.L139M		NM_001007	NP_000998	P62701	RS4X_HUMAN	Homo sapiens ribosomal protein S4, X-linked (RPS4X), mRNA.	139					endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome			NS(1)|large_intestine(1)	2	Renal(35;0.156)					TGAGTCACCAGATGAGGGATT	0.438													24	48					1.96895e-08	2.11715e-08	1	1	0	T	71493768	G	T	71493768	3	4	229	1	0	0	0	0	1	0	0	0	13645	933	33	5	388	5	RPS4X	23	71493768	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	1029097	71493768	83776792	65	9647											
CYLC1	1538	broad.mit.edu	37	chrX	83129576	83129576	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttctctaccatcaccaaaGgtcagacgtctttgttggtg	8	13	8	12	1	4	1	2	0	2	1	5	1	4	1	3	2	1	1	3	2	2	4			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:83129576G>T	uc004eei.1	+	3	1881	c.1860G>T	c.(1858-1860)aaG>aaT	p.K620N	CYLC1_uc004eeh.1_Missense_Mutation_p.K619N	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	620	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CATCACCAAAGGTCAGACGTC	0.433													32	51					3.86903e-22	4.25168e-22	1	1	0	T	83129576	G	T	83129576	3	4	229	1	0	0	0	0	1	0	0	0	4141	991	35	5	1874	5	CYLC1	23	83129576	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	11635808	83129576	72140984	66	9648											
CPXCR1	53336	broad.mit.edu	37	chrX	88009269	88009269	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcccatctgtggaaggctttTtaacacttactctgaattaa	11	15	6	9	0	2	1	0	1	2	0	3	2	3	2	1	2	2	1	1	2	5	5			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:88009269T>A	uc022bzq.1	+	0	854	c.854T>A	c.(853-855)tTt>tAt	p.F285Y	CPXCR1_uc004efd.4_Missense_Mutation_p.F285Y|CPXCR1_uc004efc.4_Missense_Mutation_p.F285Y	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN	Homo sapiens CPX chromosome region, candidate 1 (CPXCR1), transcript variant 1, mRNA.	285						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						GGAAGGCTTTTTAACACTTAC	0.303													26	37					0	0	1	0	0	A	88009269	T	A	88009269	3	1	229	1	0	0	0	0	1	0	0	0	3836	1841	64	5	856	5	CPXCR1	23	88009269	Missense_Mutation	SNP	T	TCGA-HT-8104-01A-11D-2395-08	4879693	88009269	67261291	67	9649											
NKRF	55922	broad.mit.edu	37	chrX	118724016	118724016	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcggttaaactgagctgTgtcgttcagcgtgcacacgg	8	11	12	10	4	1	1	1	1	0	0	3	1	1	1	0	2	4	4	0	2	2	3			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:118724016T>C	uc022cdk.1	-	3	1639	c.1417A>G	c.(1417-1419)Aca>Gca	p.T473A	NKRF_uc004erq.3_Missense_Mutation_p.T458A|NKRF_uc004err.3_Missense_Mutation_p.T458A	NM_001173487	NP_060014	O15226	NKRF_HUMAN	Homo sapiens NFKB repressing factor (NKRF), transcript variant 1, mRNA.	458					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						AACTGAGCTGTGTCGTTCAGC	0.428													52	138					0	0	1	0	0	C	118724016	T	C	118724016	3	2	229	1	0	0	0	0	1	0	0	0	10447	1696	59	3	704	3	NKRF	23	118724016	Missense_Mutation	SNP	T	TCGA-HT-8104-01A-11D-2395-08	30714747	118724016	36546544	68	9650											
BCORL1	63035	broad.mit.edu	37	chrX	129147463	129147463	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccattcagggcttgttccaGtccaagttgccacttcggtt	6	13	9	13	1	1	0	1	0	0	0	4	0	3	0	4	2	1	4	4	2	1	6			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:129147463G>A	uc022cdu.1	+	2	759	c.715G>A	c.(715-717)Gtc>Atc	p.V239I	BCORL1_uc010nrd.1_Missense_Mutation_p.V141I	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	239	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.P238P(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GCTTGTTCCAGTCCAAGTTGC	0.637													92	163					0	0	1	0	0	A	129147463	G	A	129147463	3	1	229	1	0	0	0	0	1	0	0	0	1387	1029	36	3	725	3	BCORL1	23	129147463	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	10423447	129147463	26123097	69	9651											
SLC25A14	9016	broad.mit.edu	37	chrX	129498601	129498601	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgtcacttgtgtttcgtaGggtgtggttccaactgctca	7	15	11	8	1	2	0	2	0	0	0	4	0	3	0	1	2	2	4	1	2	3	4			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:129498601G>A	uc004evr.1	+	8	851	c.679_splice	c.e8-1	p.G227_splice	SLC25A14_uc010nrg.3_Splice_Site_p.G196_splice|SLC25A14_uc011mut.2_Splice_Site_p.G135_splice|SLC25A14_uc011muu.2_Splice_Site_p.G199_splice|SLC25A14_uc004evp.1_Splice_Site_p.G199_splice|SLC25A14_uc004evq.1_Splice_Site_p.G196_splice	NM_022810	NP_073721	O95258	UCP5_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier, brain), member 14 (SLC25A14), nuclear gene encoding mitochondrial protein, transcript variant short, mRNA.	199					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						GTGTTTCGTAGGGTGTGGTTC	0.408													36	89					0	0	1	0	0	A	129498601	G	A	129498601	5	1	229	1	0	0	0	0	0	0	1	0	14476	1014	35	3	620	3	SLC25A14	23	129498601	Splice_Site	SNP	G	TCGA-HT-8104-01A-11D-2395-08	351138	129498601	25771959	70	9652											
IGSF1	3547	broad.mit.edu	37	chrX	130413285	130413285	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actatgaagagcatggtgacCccttgagctgttcccagcaa	11	9	10	11	0	0	4	0	3	0	1	1	4	1	4	3	1	3	4	3	1	3	3			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:130413285C>T	uc004ewe.4	-	9	1960	c.1677G>A	c.(1675-1677)ggG>ggA	p.G559G	IGSF1_uc004ewd.3_Silent_p.G559G|IGSF1_uc022cdv.1_Silent_p.G550G|IGSF1_uc004ewf.2_Silent_p.G539G	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	559					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GCATGGTGACCCCTTGAGCTG	0.617													25	56					0	0	1	0	0	T	130413285	C	T	130413285	2	4	229	1	0	0	0	0	0	0	0	1	7596	610	22	3		3	IGSF1	23	130413285	Silent	SNP	C	TCGA-HT-8104-01A-11D-2395-08	914684	130413285	24857275	71	9653											
IGSF1	3547	broad.mit.edu	37	chrX	130415782	130415782	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctccgtttactgagaatttTtggaatgtttctctttcttc	6	21	6	8	1	3	1	0	1	3	1	6	3	3	2	1	1	1	2	1	1	3	7			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:130415782T>G	uc004ewe.4	-	7	1666	c.1383A>C	c.(1381-1383)caA>caC	p.Q461H	IGSF1_uc004ewd.3_Missense_Mutation_p.Q461H|IGSF1_uc022cdv.1_Missense_Mutation_p.Q452H|IGSF1_uc004ewf.2_Missense_Mutation_p.Q441H	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	461	Ig-like C2-type 5.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CTGAGAATTTTTGGAATGTTT	0.453													41	51					0	0	1	0	0	G	130415782	T	G	130415782	3	3	229	1	0	0	0	0	1	0	0	0	7596	1838	64	5	2694	5	IGSF1	23	130415782	Missense_Mutation	SNP	T	TCGA-HT-8104-01A-11D-2395-08	2497	130415782	24854778	72	9654											
AADACL4	343066	broad.mit.edu	37	chr1	12726312	12726312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccattgacctctcctggCgtgacgccatcttgaacggc	6	10	11	14	3	2	3	0	3	2	0	3	3	2	3	4	3	1	0	4	3	1	2			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:12726312C>T	uc001auf.3	+	3	790	c.790C>T	c.(790-792)Cgt>Tgt	p.R264C		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	264						integral to membrane	carboxylesterase activity			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)		CCTCTCCTGGCGTGACGCCAT	0.502													19	102					0	0	1	0	0	T	12726312	C	T	12726312	3	4	230	1	0	0	0	0	1	0	0	0	13	768	27	1	804	1	AADACL4	1	12726312	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08		12726312	236524309	1	9655											
ANGPTL3	27329	broad.mit.edu	37	chr1	63063515	63063517	+	In_Frame_Del	DEL	AAG	AAG	-																															gctgcaaaccagtgaaatcaAagaagaagaaaaggaactga																										TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:63063515_63063517delAAG	uc001das.1	+	0	329_331	c.278_280delAAG	c.(277-282)aaagaa>aaa	p.E96del	DOCK7_uc001dan.3_Intron|DOCK7_uc001dao.3_Intron|DOCK7_uc001dap.3_Intron|DOCK7_uc001daq.3_Intron|DOCK7_uc009wah.1_Intron	NM_014495	NP_055310	Q9Y5C1	ANGL3_HUMAN	Homo sapiens angiopoietin-like 3 (ANGPTL3), mRNA.	96					acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						AGTGAAATCAAAGAAGAAGAAAA	0.325													24	14	---	---	---	---						-	63063517	AAG	-	63063515	7	5	230	1	0	1	0	1	0	0	0	0	615	14	1	0	280	0	ANGPTL3	1	63063515	In_Frame_Del	DEL	AAG	TCGA-HT-8105-01A-11D-2395-08	50337203	63063515	186187106	2	9656											
FUBP1	8880	broad.mit.edu	37	chr1	78428470	78428471	+	Frame_Shift_Del	DEL	TA	TA	-																															ctcacaccaatcttttcttcTatgagttgccgagcatagtc																										TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:78428470_78428471delTA	uc001dii.3	-	13	1417_1418	c.1328_1329delTA	c.(1327-1329)atafs	p.I443fs	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Frame_Shift_Del_p.I464fs	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	443	KH 4.				transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TCTTTTCTTCTATGAGTTGCCG	0.337			"F, N"		oligodendroglioma								30	9	---	---	---	---						-	78428471	TA	-	78428470	7	5	230	1	0	1	0	1	0	0	0	0	6092	1512	53	0	633	0	FUBP1	1	78428470	Frame_Shift_Del	DEL	TA	TCGA-HT-8105-01A-11D-2395-08	15364955	78428470	170822151	3	9657											
HSD3B2	3284	broad.mit.edu	37	chr1	119965057	119965057	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcccaatttactcctatcaAccccccttcaaccgccacac	11	8	2	20	1	2	0	2	0	0	0	3	0	3	0	7	0	4	0	7	0	5	4			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:119965057A>C	uc001ehs.3	+	2	1706	c.933A>C	c.(931-933)caA>caC	p.Q311H	HSD3B2_uc021ost.1_Missense_Mutation_p.Q311H|HSD3B2_uc001eht.3_Missense_Mutation_p.Q311H|HSD3B2_uc001ehu.3_Intron	NM_001166120	NP_001159592	P26439	3BHS2_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 2, mRNA.	311					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	ACTCCTATCAACCCCCCTTCA	0.483													4	37					0	0	1	0	0	C	119965057	A	C	119965057	3	2	230	1	0	0	0	0	1	0	0	0	7391	40	2	5	943	5	HSD3B2	1	119965057	Missense_Mutation	SNP	A	TCGA-HT-8105-01A-11D-2395-08	41536587	119965057	129285564	4	9658											
SCYL3	57147	broad.mit.edu	37	chr1	169845143	169845146	+	Frame_Shift_Del	DEL	ACAA	ACAA	-																															ggtgtggcctgagaaactttAcaaacagtttccattcctcc																										TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:169845143_169845146delACAA	uc001ggs.2	-	3	636_639	c.438_441delTTGT	c.(436-441)gtttgtfs	p.V146fs	SCYL3_uc001ggt.2_Frame_Shift_Del_p.V146fs	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	Homo sapiens SCY1-like 3 (S. cerevisiae) (SCYL3), transcript variant 2, mRNA.	146	Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAGAAACTTTACAAACAGTTTCCA	0.441													17	46	---	---	---	---						-	169845146	ACAA	-	169845143	7	5	230	1	0	1	0	1	0	0	0	0	13949	389	14	0	1831	0	SCYL3	1	169845143	Frame_Shift_Del	DEL	ACAA	TCGA-HT-8105-01A-11D-2395-08	49880086	169845143	79405478	5	9659											
CNTN2	6900	broad.mit.edu	37	chr1	205030440	205030440	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgcagtggaccacagctgagCccaccctgcagatccccagc	9	4	10	18	1	0	2	0	1	0	1	1	3	1	3	5	1	4	3	5	1	0	0			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:205030440C>G	uc001hbr.3	+	7	1134	c.865C>G	c.(865-867)Ccc>Gcc	p.P289A	CNTN2_uc001hbq.1_Missense_Mutation_p.P180A|CNTN2_uc009xbi.3_Missense_Mutation_p.P180A|CNTN2_uc001hbs.3_Missense_Mutation_p.P77A	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	289	Ig-like C2-type 3.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CACAGCTGAGCCCACCCTGCA	0.647											OREG0014144	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	61					0	0	1	0	0	G	205030440	C	G	205030440	3	3	230	1	0	0	0	0	1	0	0	0	3641	739	26	5	891	5	CNTN2	1	205030440	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	35185297	205030440	44220181	6	9660											
C1orf131	128061	broad.mit.edu	37	chr1	231374902	231374904	+	In_Frame_Del	DEL	TCT	TCT	-																															gttttcccttttctttatgaTcttcttctgttctgtttcac																										TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:231374902_231374904delTCT	uc001hul.3	-	1	186_188	c.149_151delAGA	c.(148-153)aagatc>atc	p.K50del	C1orf131_uc001hum.3_In_Frame_Del_p.K50del|C1orf131_uc001hun.1_In_Frame_Del_p.K50del|C1orf131_uc010pwd.1_In_Frame_Del_p.K50del|C1orf131_uc001huo.1_In_Frame_Del_p.K50del|GNPAT_uc009xfo.1_5'Flank|GNPAT_uc001hup.4_5'Flank|GNPAT_uc009xfp.3_5'Flank	NM_152379	NP_689592	Q8NDD1	CA131_HUMAN	Homo sapiens chromosome 1 open reading frame 131 (C1orf131), mRNA.	50										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TTCTTTATGATCTTCTTCTGTTC	0.424													10	65	---	---	---	---						-	231374904	TCT	-	231374902	7	5	230	1	0	1	0	1	0	0	0	0	1998	1435	50	0	754	0	C1orf131	1	231374902	In_Frame_Del	DEL	TCT	TCGA-HT-8105-01A-11D-2395-08	26344462	231374902	17875719	7	9661											
ALS2	57679	broad.mit.edu	37	chr2	202619251	202619251	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaacatcgccgtgccccaGctgcccttccttccctttcc	5	10	6	20	2	0	1	0	0	0	1	4	1	3	1	7	0	4	1	7	0	1	3			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr2:202619251G>A	uc002uyo.3	-	5	1971	c.1615C>T	c.(1615-1617)Ctg>Ttg	p.L539L	ALS2_uc002uyp.4_Silent_p.L539L|ALS2_uc002uyq.3_Silent_p.L539L	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	539					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CCGTGCCCCAGCTGCCCTTCC	0.517													11	128					0	0	1	0	0	A	202619251	G	A	202619251	2	1	230	1	0	0	0	0	0	0	0	1	550	962	34	3		3	ALS2	2	202619251	Silent	SNP	G	TCGA-HT-8105-01A-11D-2395-08		202619251	40580122	8	9662											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								23	32					0	0	1	0	0	T	209113112	C	T	209113112	3	4	230	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	6493861	209113112	34086261	9	9663											
ARMC9	80210	broad.mit.edu	37	chr2	232079592	232079592	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaccagaaggtgttcttcGatctgtgggaggagcacatt	10	10	14	7	1	2	2	0	0	2	2	3	6	2	4	1	3	1	2	1	3	1	3			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr2:232079592G>T	uc002vrq.4	+	3	338	c.226G>T	c.(226-228)Gat>Tat	p.D76Y	ARMC9_uc002vrp.4_Missense_Mutation_p.D76Y	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	Homo sapiens armadillo repeat containing 9 (ARMC9), mRNA.	76							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GGTGTTCTTCGATCTGTGGGA	0.453													20	52					7.41877e-09	7.64023e-09	1	1	0	T	232079592	G	T	232079592	3	4	230	1	0	0	0	0	1	0	0	0	958	1058	37	5	236	5	ARMC9	2	232079592	Missense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08	22966480	232079592	11119781	10	9664											
GRM7	2917	broad.mit.edu	37	chr3	7503380	7503380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccgggttaccgtctgatcGggcagtggacagacgaactt	9	8	13	11	4	1	2	0	1	1	1	2	4	1	3	2	3	2	2	2	3	2	2			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:7503380G>A	uc003bqm.2	+	6	1760	c.1486G>A	c.(1486-1488)Ggg>Agg	p.G496R	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.G496R|GRM7_uc003bql.2_Missense_Mutation_p.G496R|GRM7_uc003bqn.1_Missense_Mutation_p.G79R|GRM7_uc010hch.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	496					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CCGTCTGATCGGGCAGTGGAC	0.468													66	106					0	0	1	0	0	A	7503380	G	A	7503380	3	1	230	1	0	0	0	0	1	0	0	0	6802	1116	39	2	1512	2	GRM7	3	7503380	Missense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08		7503380	190519050	11	9665											
GOLGA4	2803	broad.mit.edu	37	chr3	37402755	37402755	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttacttcacctcgcagtggtAtcttctgagtaaaccatcag	10	13	7	11	1	4	1	2	1	2	0	5	1	4	1	2	1	2	3	2	1	4	5			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:37402755A>G	uc003cgv.3	+	22	7045	c.6685A>G	c.(6685-6687)Atc>Gtc	p.I2229V	GOLGA4_uc003cgw.3_Intron|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Intron	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	2229					Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TCGCAGTGGTATCTTCTGAGT	0.353													9	57					0	0	1	0	0	G	37402755	A	G	37402755	3	3	230	1	0	0	0	0	1	0	0	0	6555	449	16	3	6845	3	GOLGA4	3	37402755	Missense_Mutation	SNP	A	TCGA-HT-8105-01A-11D-2395-08	29899375	37402755	160619675	12	9666											
CELSR3	1951	broad.mit.edu	37	chr3	48699364	48699365	+	Frame_Shift_Ins	INS	-	-	G																															agatcccgaggcccctggaaINSgacagttccgccggggggct																										TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:48699364_48699365insG	uc003cuf.1	-	2	913_914	c.913_914insC	c.(913-915)cttfs	p.L305fs	CELSR3_uc003cul.3_Frame_Shift_Ins_p.L235fs	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	235					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGCCCCTGGAAGACAGTTCCGC	0.658													69	120	---	---	---	---						G	48699365	-	G	48699364	7	5	230	1	0	1	1	0	0	0	0	0	3223	72	3	0	9374	0	CELSR3	3	48699364	Frame_Shift_Ins	INS	-	TCGA-HT-8105-01A-11D-2395-08	11296609	48699364	149323066	13	9667											
PDZRN3	23024	broad.mit.edu	37	chr3	73433161	73433161	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taggcgctgcccagcttctgGctgggcgtggggctccggct	2	9	17	13	3	1	0	0	0	1	0	2	0	2	0	2	6	2	5	2	6	1	2			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:73433161G>C	uc003dpl.1	-	9	2652	c.2556C>G	c.(2554-2556)agC>agG	p.S852R	PDZRN3_uc011bgh.1_Missense_Mutation_p.S509R|PDZRN3_uc010hoe.1_Missense_Mutation_p.S550R|PDZRN3_uc021xaq.1_Missense_Mutation_p.S145R|PDZRN3_uc011bgf.1_Missense_Mutation_p.S569R|PDZRN3_uc011bgg.1_Missense_Mutation_p.S572R	NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	852							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CCAGCTTCTGGCTGGGCGTGG	0.662													5	141					0	0	1	0	0	C	73433161	G	C	73433161	3	2	230	1	0	0	0	0	1	0	0	0	11709	1194	42	5	648	5	PDZRN3	3	73433161	Missense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08	24733797	73433161	124589269	14	9668											
OR5H14	403273	broad.mit.edu	37	chr3	97868537	97868537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgcaagatacagttgttttCgtttgcaatcagtgtaacca	12	14	8	7	1	1	1	1	0	0	1	2	1	1	1	1	0	4	6	1	0	4	6			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:97868537C>T	uc003dsg.1	+	0	308	c.308C>T	c.(307-309)tCg>tTg	p.S103L		NM_001005514	NP_001005514	A6NHG9	O5H14_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 14 (OR5H14), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S103L(2)|p.S103S(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CAGTTGTTTTCGTTTGCAATC	0.393													84	31					0	0	1	0	0	T	97868537	C	T	97868537	3	4	230	1	0	0	0	0	1	0	0	0	11160	893	31	2	310	2	OR5H14	3	97868537	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	24435376	97868537	100153893	15	9669											
PLCH1	23007	broad.mit.edu	37	chr3	155200026	155200026	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtagtttcataaactgtgttCgttgcatgtttggtggtctc	6	18	11	6	1	2	0	1	0	1	0	4	0	2	0	0	2	2	6	0	2	3	6			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:155200026C>T	uc021xge.1	-	22	4090	c.3813G>A	c.(3811-3813)acG>acA	p.T1271T	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Silent_p.T1233T	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1271					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.T1233T(1)|p.T1271T(1)		NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AAACTGTGTTCGTTGCATGTT	0.468													74	90					0	0	1	0	0	T	155200026	C	T	155200026	2	4	230	1	0	0	0	0	0	0	0	1	12037	871	31	2		2	PLCH1	3	155200026	Silent	SNP	C	TCGA-HT-8105-01A-11D-2395-08	57331489	155200026	42822404	16	9670											
SLC6A3	6531	broad.mit.edu	37	chr5	1409222	1409222	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaaatggtccaggagcgTgaagacgtagatgccaccct	12	7	12	10	2	0	3	0	1	0	2	1	4	1	4	3	2	3	2	3	2	4	1			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr5:1409222T>G	uc003jck.3	-	10	1543	c.1417A>C	c.(1417-1419)Acg>Ccg	p.T473P		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	473					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TCCAGGAGCGTGAAGACGTAG	0.582													11	13					0	0	1	0	0	G	1409222	T	G	1409222	3	3	230	1	0	0	0	0	1	0	0	0	14685	1696	59	5	465	5	SLC6A3	5	1409222	Missense_Mutation	SNP	T	TCGA-HT-8105-01A-11D-2395-08		1409222	179506038	17	9671											
HIST1H1C	3006	broad.mit.edu	37	chr6	26056630	26056630	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccgcaggaggcgcggcagcGggagcggcaggagcagtctc	7	3	19	12	5	1	0	0	0	1	0	3	3	2	3	1	6	3	4	1	6	0	0			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr6:26056630G>C	uc003nfw.3	-	0	70	c.27C>G	c.(25-27)ccC>ccG	p.P9P		NM_005319	NP_005310	P16403	H12_HUMAN	Homo sapiens histone cluster 1, H1c (HIST1H1C), mRNA.	9					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GCGCGGCAGCGGGAGCGGCAG	0.617													32	55					0	0	1	0	0	C	26056630	G	C	26056630	2	2	230	1	0	0	0	0	0	0	0	1	7124	1103	39	5		5	HIST1H1C	6	26056630	Silent	SNP	G	TCGA-HT-8105-01A-11D-2395-08		26056630	145058437	18	9672											
SIM1	6492	broad.mit.edu	37	chr6	100898211	100898211	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcccatctggggctaccaCgaagatgaagccatccaggg	10	7	11	13	1	1	2	0	1	1	1	3	3	3	2	4	3	2	1	4	3	3	2			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr6:100898211C>T	uc003pqj.4	-	2	747	c.280G>A	c.(280-282)Gtg>Atg	p.V94M	SIM1_uc021zdg.1_Missense_Mutation_p.V94M|SIM1_uc010kcu.3_Missense_Mutation_p.V94M	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	94	PAS 1.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGGGCTACCACGAAGATGAAG	0.527													59	114					0	0	1	0	0	T	100898211	C	T	100898211	3	4	230	1	0	0	0	0	1	0	0	0	14323	536	19	1	2056	1	SIM1	6	100898211	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	74841581	100898211	70216856	19	9673											
LAMA2	3908	broad.mit.edu	37	chr6	129762070	129762072	+	In_Frame_Del	DEL	GAA	GAA	-																															caccagaacctcgatggcctGaagaagaattacaataaact																										TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr6:129762070_129762072delGAA	uc021zfb.1	+	42	6300_6302	c.6195_6197delGAA	c.(6193-6198)ctgaag>ctg	p.K2067del	LAMA2_uc003qbn.3_In_Frame_Del_p.K2067del|LAMA2_uc003qbo.3_In_Frame_Del_p.K2067del	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2067	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCGATGGCCTGAAGAAGAATTAC	0.438													21	41	---	---	---	---						-	129762072	GAA	-	129762070	7	5	230	1	0	1	0	1	0	0	0	0	8606	1277	45	0	6365	0	LAMA2	6	129762070	In_Frame_Del	DEL	GAA	TCGA-HT-8105-01A-11D-2395-08	28863859	129762070	41352997	20	9674											
C1GALT1	56913	broad.mit.edu	37	chr7	7278106	7278109	+	Frame_Shift_Del	DEL	AATT	AATT	-																															gatcaactatactggaaaacAattaaagcttttcagtatgt																										TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr7:7278106_7278109delAATT	uc003srb.2	+	2	664_667	c.441_444delAATT	c.(439-444)acaattfs	p.T147fs	C1GALT1_uc003sra.3_Frame_Shift_Del_p.T147fs|C1GALT1_uc010kto.2_Frame_Shift_Del_p.T147fs	NM_020156	NP_064541	Q9NS00	C1GLT_HUMAN	Homo sapiens core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 (C1GALT1), mRNA.	147					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		ACTGGAAAACAATTAAAGCTTTTC	0.358													21	56	---	---	---	---						-	7278109	AATT	-	7278106	7	5	230	1	0	1	0	1	0	0	0	0	1952	117	5	0	447	0	C1GALT1	7	7278106	Frame_Shift_Del	DEL	AATT	TCGA-HT-8105-01A-11D-2395-08		7278106	151860557	21	9675											
TTC26	79989	broad.mit.edu	37	chr7	138822611	138822613	+	In_Frame_Del	DEL	GAA	GAA	-																															agttcaaacgtcatgttgggGaagaagaagaggatactaat																										TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr7:138822611_138822613delGAA	uc003vus.2	+	2	274_276	c.160_162delGAA	c.(160-162)gaadel	p.E57del	TTC26_uc003vuq.2_In_Frame_Del_p.E57del|TTC26_uc011kqm.1_In_Frame_Del_p.E57del|TTC26_uc003vur.4_In_Frame_Del_p.E57del|TTC26_uc011kqn.1_In_Frame_Del_p.E57del|TTC26_uc011kqo.1_Intron|TTC26_uc011kqp.1_5'UTR|TTC26_uc003vut.2_5'UTR|TTC26_uc011kqq.1_In_Frame_Del_p.E57del	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN	Homo sapiens tetratricopeptide repeat domain 26 (TTC26), transcript variant 1, mRNA.	57							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						TCATGTTGGGGAAGAAGAAGAGG	0.33													7	142	---	---	---	---						-	138822613	GAA	-	138822611	7	5	230	1	0	1	0	1	0	0	0	0	16691	1175	41	0	170	0	TTC26	7	138822611	In_Frame_Del	DEL	GAA	TCGA-HT-8105-01A-11D-2395-08	131544505	138822611	20316052	22	9676											
AGAP3	116988	broad.mit.edu	37	chr7	150840954	150840954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggggagggctgtggcttagCgcctacccccaacagagagc	8	6	15	12	1	0	1	0	0	0	1	0	3	0	2	3	4	4	2	3	4	3	2			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr7:150840954C>T	uc003wjg.1	+	17	2663	c.2660C>T	c.(2659-2661)gCg>gTg	p.A887V	AGAP3_uc003wje.1_Missense_Mutation_p.A556V|AGAP3_uc003wjj.1_Missense_Mutation_p.A386V|AGAP3_uc003wjk.1_Missense_Mutation_p.A305V	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	851					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TGTGGCTTAGCGCCTACCCCC	0.647													69	82					0	0	1	0	0	T	150840954	C	T	150840954	3	4	230	1	0	0	0	0	1	0	0	0	369	768	27	1	2797	1	AGAP3	7	150840954	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	12018343	150840954	8297709	23	9677											
GPR124	25960	broad.mit.edu	37	chr8	37687461	37687461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagctgtcggaacacaCgctctgtgcttaccccagtg	7	9	10	15	2	1	0	0	0	1	0	2	1	1	1	3	1	5	4	3	1	2	1			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr8:37687461C>T	uc003xkj.3	+	5	1033	c.647C>T	c.(646-648)aCg>aTg	p.T216M	GPR124_uc010lvy.3_Missense_Mutation_p.T216M	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.	216	LRRCT.				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TCGGAACACACGCTCTGTGCT	0.662													3	36					0	0	1	0	0	T	37687461	C	T	37687461	3	4	230	1	0	0	0	0	1	0	0	0	6638	536	19	1	648	1	GPR124	8	37687461	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08		37687461	108676561	24	9678											
BHLHE22	27319	broad.mit.edu	37	chr8	65494021	65494023	+	In_Frame_Del	DEL	GCA	GCA	-																															tagcggtagcggcagcggcgGcagcagcagcagcagcagca																								rs62519837		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr8:65494021_65494023delGCA	uc003xvi.3	+	0	1227_1229	c.674_676delGCA	c.(673-678)ggcagc>ggc	p.S234del	LOC401463_uc003xvh.3_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	Homo sapiens basic helix-loop-helix family, member e22 (BHLHE22), mRNA.	234	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.S234delS(2)|p.S226G(1)		NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						ggcagcggcggcagcagcagcag	0.709													5	8	---	---	---	---						-	65494023	GCA	-	65494021	7	5	230	1	0	1	0	1	0	0	0	0	1421	1203	42	0	676	0	BHLHE22	8	65494021	In_Frame_Del	DEL	GCA	TCGA-HT-8105-01A-11D-2395-08	27806560	65494021	80870001	25	9679											
CREB3	10488	broad.mit.edu	37	chr9	35736657	35736660	+	Frame_Shift_Del	DEL	AAGG	AAGG	-																															cccctgcaggcaaatctcacAaggaagggaggatggcttcc																										TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr9:35736657_35736660delAAGG	uc003zxv.3	+	8	1503_1506	c.1050_1053delAAGG	c.(1048-1053)acaaggfs	p.T350fs	CREB3_uc010mla.3_Frame_Shift_Del_p.T269fs	NM_006368	NP_006359	O43889	CREB3_HUMAN	Homo sapiens cAMP responsive element binding protein 3 (CREB3), mRNA.	374	Pro-rich.				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	Golgi apparatus|cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|integral to membrane|nucleus	CCR1 chemokine receptor binding|DNA binding|cAMP response element binding protein binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		CAAATCTCACAAGGAAGGGAGGAT	0.583											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	65	224	---	---	---	---						-	35736660	AAGG	-	35736657	7	5	230	1	0	1	0	1	0	0	0	0	3855	117	5	0	1084	0	CREB3	9	35736657	Frame_Shift_Del	DEL	AAGG	TCGA-HT-8105-01A-11D-2395-08		35736657	105476774	26	9680											
MEGF9	1955	broad.mit.edu	37	chr9	123374758	123374760	+	In_Frame_Del	DEL	CTT	CTT	-																															atcaggactctgataaaatcCttctttacattcttcacagt																										TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr9:123374758_123374760delCTT	uc004bkj.2	-	5	1265_1267	c.1112_1114delAAG	c.(1111-1116)gaagga>gga	p.E371del	MEGF9_uc022bms.1_In_Frame_Del_p.E334del	NM_001080497	NP_001073966	Q9H1U4	MEGF9_HUMAN	Homo sapiens multiple EGF-like-domains 9 (MEGF9), mRNA.	334	Laminin EGF-like 4.					integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						TGATAAAATCCTTCTTTACATTC	0.374													13	27	---	---	---	---						-	123374760	CTT	-	123374758	7	5	230	1	0	1	0	1	0	0	0	0	9464	690	24	0	817	0	MEGF9	9	123374758	In_Frame_Del	DEL	CTT	TCGA-HT-8105-01A-11D-2395-08	87638101	123374758	17838673	27	9681											
ZER1	10444	broad.mit.edu	37	chr9	131512920	131512920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctcctggtaggattccatgCcattcagcaccacctggata	9	10	8	14	0	1	0	1	0	0	0	3	2	3	2	6	3	2	2	6	3	2	4			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr9:131512920C>T	uc004bwa.1	-	7	1767	c.1334G>A	c.(1333-1335)gGc>gAc	p.G445D		NM_006336	NP_006327	Q7Z7L7	ZER1_HUMAN	Homo sapiens zer-1 homolog (C. elegans) (ZER1), mRNA.	445					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						GGATTCCATGCCATTCAGCAC	0.627													38	32					0	0	1	0	0	T	131512920	C	T	131512920	3	4	230	1	0	0	0	0	1	0	0	0	17622	739	26	3	1002	3	ZER1	9	131512920	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	8138162	131512920	9700511	28	9682											
SETX	23064	broad.mit.edu	37	chr9	135211887	135211887	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagtttcttgcagtcaagaTagcccaacgccgaacctaaa	14	8	7	12	2	2	1	1	0	1	1	2	2	2	1	3	0	4	2	3	0	7	4			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr9:135211887T>C	uc004cbk.3	-	5	697	c.514A>G	c.(514-516)Atc>Gtc	p.I172V		NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	172					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity	p.I172M(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GCAGTCAAGATAGCCCAACGC	0.348													35	60					0	0	1	0	0	C	135211887	T	C	135211887	3	2	230	1	0	0	0	0	1	0	0	0	14141	1406	49	3	7603	3	SETX	9	135211887	Missense_Mutation	SNP	T	TCGA-HT-8105-01A-11D-2395-08	3698967	135211887	6001544	29	9683											
NOTCH1	4851	broad.mit.edu	37	chr9	139412725	139412727	+	In_Frame_Del	DEL	GTT	GTT	-																															gggttgctgatgcatgcgtcGttgaggtggcacagcagacc																										TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr9:139412725_139412727delGTT	uc004chz.3	-	6	1117_1119	c.1117_1119delAAC	c.(1117-1119)aacdel	p.N373del		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	373	EGF-like 10.				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGCATGCGTCGTTGAGGTGGCAC	0.67			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			13	23	---	---	---	---						-	139412727	GTT	-	139412725	7	5	230	1	0	1	0	1	0	0	0	0	10547	1136	40	0	6660	0	NOTCH1	9	139412725	In_Frame_Del	DEL	GTT	TCGA-HT-8105-01A-11D-2395-08	4200838	139412725	1800706	30	9684											
OR5T3	390154	broad.mit.edu	37	chr11	56020647	56020647	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcatctatagtttgaggaaCaaagaagtaaaaaaggcagt	19	9	9	4	0	2	2	1	1	1	1	2	3	2	3	0	2	1	3	0	2	8	4			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr11:56020647C>A	uc010rjd.2	+	0	972	c.972C>A	c.(970-972)aaC>aaA	p.N324K		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	324					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GTTTGAGGAACAAAGAAGTAA	0.323													19	31					1.67942e-08	1.70411e-08	1	1	0	A	56020647	C	A	56020647	3	1	230	1	0	0	0	0	1	0	0	0	11183	477	17	5	974	5	OR5T3	11	56020647	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08		56020647	78985869	31	9685											
SERPING1	710	broad.mit.edu	37	chr11	57365774	57365776	+	In_Frame_Del	DEL	CTG	CTG	-																															ggctgaccctgctgaccctcCtgctgctgctgctggctggg																										TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr11:57365774_57365776delCTG	uc001nkp.1	+	1	222_224	c.31_33delCTG	c.(31-33)ctgdel	p.L15del	SERPING1_uc010rju.1_Intron|SERPING1_uc010rjv.1_In_Frame_Del_p.L15del|SERPING1_uc001nkr.1_In_Frame_Del_p.L15del|SERPING1_uc001nks.1_5'UTR	NM_000062	NP_001027466	P05155	IC1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 (SERPING1), transcript variant 1, mRNA.	15					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GCTGACCCTCCTGCTGCTGCTGC	0.714													3	5	---	---	---	---						-	57365776	CTG	-	57365774	7	5	230	1	0	1	0	1	0	0	0	0	14116	680	24	0	33	0	SERPING1	11	57365774	In_Frame_Del	DEL	CTG	TCGA-HT-8105-01A-11D-2395-08	1345127	57365774	77640742	32	9686											
PLEKHB1	58473	broad.mit.edu	37	chr11	73362876	73362877	+	Frame_Shift_Del	DEL	TG	TG	-																															agccgagatggcctgctgacTgtgaacctacgggaaggcgg																										TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr11:73362876_73362877delTG	uc001oua.3	+	3	722_723	c.291_292delTG	c.(289-294)actgtgfs	p.T97fs	PLEKHB1_uc001oub.3_Frame_Shift_Del_p.T97fs|PLEKHB1_uc010rrh.1_Frame_Shift_Del_p.T78fs|PLEKHB1_uc001ouc.3_Frame_Shift_Del_p.T78fs|PLEKHB1_uc001oud.3_Frame_Shift_Del_p.T78fs|PLEKHB1_uc009ytq.3_Frame_Shift_Del_p.T78fs	NM_021200	NP_001123506	Q9UF11	PKHB1_HUMAN	Homo sapiens pleckstrin homology domain containing, family B (evectins) member 1 (PLEKHB1), transcript variant 1, mRNA.	97	PH.				multicellular organismal development|phototransduction	cytoplasm|integral to membrane	signal transducer activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						GCCTGCTGACTGTGAACCTACG	0.624													22	35	---	---	---	---						-	73362877	TG	-	73362876	7	5	230	1	0	1	0	1	0	0	0	0	12064	1567	55	0	305	0	PLEKHB1	11	73362876	Frame_Shift_Del	DEL	TG	TCGA-HT-8105-01A-11D-2395-08	15997102	73362876	61643640	33	9687											
RSF1	51773	broad.mit.edu	37	chr11	77386296	77386296	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacacaacaaactcatctTgagatctgtccaagagaaat	17	8	6	10	0	3	3	1	1	2	3	4	5	4	3	1	0	2	0	1	0	4	1			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr11:77386296T>C	uc001oyn.3	-	13	3467	c.3347A>G	c.(3346-3348)cAa>cGa	p.Q1116R	RSF1_uc001oym.3_Missense_Mutation_p.Q864R	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	1116					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			AAACTCATCTTGAGATCTGTC	0.393													17	20					0	0	1	0	0	C	77386296	T	C	77386296	3	2	230	1	0	0	0	0	1	0	0	0	13699	1812	63	3	990	3	RSF1	11	77386296	Missense_Mutation	SNP	T	TCGA-HT-8105-01A-11D-2395-08	4023420	77386296	57620220	34	9688											
AMOTL1	154810	broad.mit.edu	37	chr11	94554698	94554698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttccattgccttgcagccGcccatgccaacttccgttcc	5	11	6	19	2	0	0	0	0	0	0	3	0	3	0	8	0	5	2	8	0	1	5			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr11:94554698G>A	uc001pfb.3	+	3	1294	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	AMOTL1_uc001pfc.3_Missense_Mutation_p.R325H	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	Homo sapiens angiomotin like 1 (AMOTL1), mRNA.	375						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CCTTGCAGCCGCCCATGCCAA	0.602													3	42					0	0	1	0	0	A	94554698	G	A	94554698	3	1	230	1	0	0	0	0	1	0	0	0	583	1087	38	1	1138	1	AMOTL1	11	94554698	Missense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08	17168402	94554698	40451818	35	9689											
ABCC9	10060	broad.mit.edu	37	chr12	22069947	22069947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatgcctgtgatgcagaaaCgcaggtttgatatgtccaag	11	11	11	8	1	1	3	1	2	0	1	2	3	2	3	2	1	3	3	2	1	3	2			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr12:22069947C>T	uc001rfh.3	-	3	517	c.497G>A	c.(496-498)cGt>cAt	p.R166H	ABCC9_uc001rfi.1_Missense_Mutation_p.R166H	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	166					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GATGCAGAAACGCAGGTTTGA	0.418													35	182					0	0	1	0	0	T	22069947	C	T	22069947	3	4	230	1	0	0	0	0	1	0	0	0	59	536	19	1	4434	1	ABCC9	12	22069947	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08		22069947	111781948	36	9690											
NAB2	4665	broad.mit.edu	37	chr12	57487287	57487287	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacacatcctgcagcagacActgatggacgaggggctgcg	10	5	14	12	3	0	2	0	1	0	1	1	5	1	3	1	3	3	3	1	3	0	0			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr12:57487287A>G	uc001smz.3	+	5	1752	c.1374A>G	c.(1372-1374)acA>acG	p.T458T		NM_005967	NP_005958	Q15742	NAB2_HUMAN	Homo sapiens NGFI-A binding protein 2 (EGR1 binding protein 2) (NAB2), mRNA.	458					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TGCAGCAGACACTGATGGACG	0.687													6	8					0	0	1	0	0	G	57487287	A	G	57487287	2	3	230	1	0	0	0	0	0	0	0	1	10132	146	6	3		3	NAB2	12	57487287	Silent	SNP	A	TCGA-HT-8105-01A-11D-2395-08	35417340	57487287	76364608	37	9691											
CAPS2	84698	broad.mit.edu	37	chr12	75692508	75692508	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattgttttccttttcttcGtccacactgatgactataaa	9	18	5	9	1	1	2	0	2	1	0	4	2	3	2	2	0	0	2	2	0	4	9			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr12:75692508G>A	uc001sxl.3	-	10	1032	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	CAPS2_uc001sxm.3_Nonsense_Mutation_p.R122*|CAPS2_uc009zsa.2_Intron|CAPS2_uc001sxi.4_Nonsense_Mutation_p.R90*|CAPS2_uc001sxj.4_Nonsense_Mutation_p.R265*|CAPS2_uc001sxk.4_Nonsense_Mutation_p.R354*	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN	Homo sapiens calcyphosine 2 (CAPS2), mRNA.	354							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						CCTTTTCTTCGTCCACACTGA	0.353													13	28					0	0	1	0	0	A	75692508	G	A	75692508	4	1	230	1	0	0	0	0	0	1	0	0	2638	1153	40	1	641	1	CAPS2	12	75692508	Nonsense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08	18205221	75692508	58159387	38	9692											
DDX51	317781	broad.mit.edu	37	chr12	132626153	132626153	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagcggtacccatcagctcTacagaccagagagcagctcg	11	5	11	14	2	2	2	1	0	1	2	3	3	2	2	2	1	6	5	2	1	2	2			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr12:132626153T>C	uc001ujy.4	-	7	1035	c.996_splice	c.e7-1	p.T332_splice	NOC4L_uc001ujz.1_5'Flank	NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 (DDX51), mRNA.	332	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		CCATCAGCTCTACAGACCAGA	0.622													19	34					0	0	1	0	0	C	132626153	T	C	132626153	5	2	230	1	0	0	0	0	0	0	1	0	4369	1536	53	4	1042	4	DDX51	12	132626153	Splice_Site	SNP	T	TCGA-HT-8105-01A-11D-2395-08	56933645	132626153	1225742	39	9693											
SLITRK5	26050	broad.mit.edu	37	chr13	88329500	88329500	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgactattcagatgtagtAgtttccacgcccacaccctc	9	11	6	15	1	1	2	1	1	0	1	3	2	2	2	4	0	0	3	4	0	3	5			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr13:88329500A>G	uc001vln.3	+	1	2076	c.1857A>G	c.(1855-1857)gtA>gtG	p.V619V	SLITRK5_uc010tic.1_Silent_p.V378V|SLITRK5_uc021rlc.1_Silent_p.V619V	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	619						integral to membrane		p.V618I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CAGATGTAGTAGTTTCCACGC	0.592													18	202					0	0	1	0	0	G	88329500	A	G	88329500	2	3	230	1	0	0	0	0	0	0	0	1	14746	407	15	4		4	SLITRK5	13	88329500	Silent	SNP	A	TCGA-HT-8105-01A-11D-2395-08		88329500	26840378	40	9694											
TMTC4	84899	broad.mit.edu	37	chr13	101294549	101294549	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccagaaggtggaagaatgCgctccctccttgttacctgc	9	9	10	13	1	0	2	0	0	0	2	2	3	2	3	4	2	3	2	4	2	4	2			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr13:101294549C>T	uc001vot.3	-	6	970	c.657G>A	c.(655-657)gcG>gcA	p.A219A	TMTC4_uc001vou.3_Silent_p.A200A|TMTC4_uc010tja.2_Silent_p.A89A|TMTC4_uc001vow.1_5'UTR	NM_032813	NP_001073137	Q5T4D3	TMTC4_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 4 (TMTC4), transcript variant 1, mRNA.	200						integral to membrane	binding	p.G218R(1)		breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGGAAGAATGCGCTCCCTCCT	0.468													49	108					0	0	1	0	0	T	101294549	C	T	101294549	2	4	230	1	0	0	0	0	0	0	0	1	16260	755	27	1		1	TMTC4	13	101294549	Silent	SNP	C	TCGA-HT-8105-01A-11D-2395-08	12965049	101294549	13875329	41	9695											
TCF12	6938	broad.mit.edu	37	chr15	57484478	57484479	+	Frame_Shift_Del	DEL	CT	CT	-																															aggaggagaccactccatgaCtctgcagcgcttggtgagtg																										TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr15:57484478_57484479delCT	uc002aec.3	+	6	797_798	c.513_514delCT	c.(511-516)gactctfs	p.D171fs	TCF12_uc010ugm.1_Frame_Shift_Del_p.D223fs|TCF12_uc010ugn.1_Frame_Shift_Del_p.D167fs|TCF12_uc002aea.3_Frame_Shift_Del_p.D171fs|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Frame_Shift_Del_p.D171fs|TCF12_uc002aed.3_Frame_Shift_Del_p.D171fs	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	171					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CACTCCATGACTCTGCAGCGCT	0.46			T	TEC	extraskeletal myxoid chondrosarcoma								40	84	---	---	---	---						-	57484479	CT	-	57484478	7	5	230	1	0	1	0	1	0	0	0	0	15684	564	20	0	535	0	TCF12	15	57484478	Frame_Shift_Del	DEL	CT	TCGA-HT-8105-01A-11D-2395-08		57484478	45046914	42	9696											
CCDC33	80125	broad.mit.edu	37	chr15	74623086	74623086	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcatttgcagaatgagctGattcgagtgagctggggctt	9	11	14	7	1	0	4	0	3	0	1	1	5	0	4	0	2	4	5	0	2	1	3			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr15:74623086G>A	uc002axo.3	+	12	1933	c.1539G>A	c.(1537-1539)ctG>ctA	p.L513L	CCDC33_uc002axp.3_Silent_p.L335L|CCDC33_uc021sqi.1_Non-coding_Transcript|CCDC33_uc002axq.3_Silent_p.L106L|CCDC33_uc002axr.3_Silent_p.L106L	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	716							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGAATGAGCTGATTCGAGTGA	0.567													31	45					0	0	1	0	0	A	74623086	G	A	74623086	2	1	230	1	0	0	0	0	0	0	0	1	2806	1277	45	3		3	CCDC33	15	74623086	Silent	SNP	G	TCGA-HT-8105-01A-11D-2395-08	17138608	74623086	27908306	43	9697											
WDR90	197335	broad.mit.edu	37	chr16	709106	709106	+	Frame_Shift_Del	DEL	C	C	-																															cgaccaaagcttccccggggCccccccagcctgcaagacag																										TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr16:709106delC	uc002cii.1	+	24	3086	c.3032delC	c.(3031-3033)gccfs	p.A1011fs	WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Frame_Shift_Del_p.A538fs|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cim.1_Frame_Shift_Del_p.A185fs|WDR90_uc002cin.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	1011										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TTCCCCGGGGCCCCCCCAGCC	0.657													7	148	---	---	---	---						-	709106	C	-	709106	7	5	230	1	0	1	0	1	0	0	0	0	17334	739	26	0	3130	0	WDR90	16	709106	Frame_Shift_Del	DEL	C	TCGA-HT-8105-01A-11D-2395-08		709106	89645647	44	9698											
MYH11	4629	broad.mit.edu	37	chr16	15820745	15820745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgagctccgcccgggccCgctccccatcgctgcacttg	4	8	10	19	4	0	1	0	1	0	0	3	1	2	1	5	1	2	4	5	1	0	2			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr16:15820745C>T	uc002ddx.3	-	28	3946	c.3839G>A	c.(3838-3840)cGg>cAg	p.R1280Q	MYH11_uc002ddv.3_Missense_Mutation_p.R1280Q|MYH11_uc002ddw.3_Missense_Mutation_p.R1273Q|MYH11_uc002ddy.3_Missense_Mutation_p.R1273Q|MYH11_uc010bvg.3_Missense_Mutation_p.R1105Q|MYH11_uc010bvh.3_5'Flank	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1273					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGCCCGGGCCCGCTCCCCATC	0.647			T	CBFB	AML								87	105					0	0	1	0	0	T	15820745	C	T	15820745	3	4	230	1	0	0	0	0	1	0	0	0	10031	652	23	2	2191	2	MYH11	16	15820745	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	15111639	15820745	74534008	45	9699											
CNGB1	1258	broad.mit.edu	37	chr16	57918281	57918281	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccggggcgcgggtgggtcGgtggcggcctcctttgggtg	0	9	22	10	5	0	0	0	0	0	0	3	0	2	0	3	8	0	0	3	8	0	1			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr16:57918281G>A	uc002emt.2	-	32	3608	c.3543C>T	c.(3541-3543)acC>acT	p.T1181T	CNGB1_uc010cdh.2_Silent_p.T1175T	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	1181					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CGGGTGGGTCGGTGGCGGCCT	0.716													7	59					0	0	1	0	0	A	57918281	G	A	57918281	2	1	230	1	0	0	0	0	0	0	0	1	3600	1103	39	2		2	CNGB1	16	57918281	Silent	SNP	G	TCGA-HT-8105-01A-11D-2395-08	42097536	57918281	32436472	46	9700											
KCNG4	93107	broad.mit.edu	37	chr16	84270707	84270707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaagcaccagcttcccggCcgccaggaagctcacgatca	11	4	10	16	3	2	1	2	0	0	1	3	3	3	2	4	2	3	3	4	2	2	1			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr16:84270707C>T	uc010voc.2	-	1	506	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	KCNG4_uc002fhu.1_Missense_Mutation_p.A129T	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	129						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						AGCTTCCCGGCCGCCAGGAAG	0.637													28	57					0	0	1	0	0	T	84270707	C	T	84270707	3	4	230	1	0	0	0	0	1	0	0	0	8030	739	26	3	1180	3	KCNG4	16	84270707	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	26352426	84270707	6084046	47	9701			1	24		2	2	47	N	GAA_C	9.212431e-05
KCNG4	93107	broad.mit.edu	37	chr16	84270753	84270755	+	In_Frame_Del	DEL	GAA	GAA	-																															aaggcgctggggctcctgtcGaagaagaactcctggctgtc																										TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr16:84270753_84270755delGAA	uc010voc.2	-	1	458_460	c.337_339delTTC	c.(337-339)ttcdel	p.F113del	KCNG4_uc002fhu.1_In_Frame_Del_p.F113del	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	113						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GGCTCCTGTCGAAGAAGAACTCC	0.626													28	73	---	---	---	---						-	84270755	GAA	-	84270753	7	5	230	1	0	1	0	1	0	0	0	0	8030	1049	37	0	1226	0	KCNG4	16	84270753	In_Frame_Del	DEL	GAA	TCGA-HT-8105-01A-11D-2395-08	46	84270753	6084000	48	9702			1	24		2	2	47	N	GAA_C	9.212431e-05
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			14	26					0	0	1	0	0	A	7577121	G	A	7577121	3	1	230	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08		7577121	73618089	49	9703											
SREBF1	6720	broad.mit.edu	37	chr17	17717630	17717630	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccactggccttctcacagaTggtcaggctggctggaccag	7	8	12	14	0	2	1	2	0	1	1	3	2	2	2	3	5	0	2	3	5	0	1			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:17717630T>C	uc002gru.2	-	15	3024	c.2830A>G	c.(2830-2832)Atc>Gtc	p.I944V	SREBF1_uc002gro.4_5'Flank|SREBF1_uc002grp.2_Missense_Mutation_p.I563V|SREBF1_uc002grq.2_Missense_Mutation_p.I463V|SREBF1_uc002grr.2_Missense_Mutation_p.I690V|SREBF1_uc002grs.2_Missense_Mutation_p.I920V|SREBF1_uc002grt.2_Missense_Mutation_p.I974V|MIR33B_uc021trh.1_5'Flank	NM_004176	NP_004167	P36956	SRBP1_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 1 (SREBF1), transcript variant 2, mRNA.	944					cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TTCTCACAGATGGTCAGGCTG	0.657													6	5					0	0	1	0	0	C	17717630	T	C	17717630	3	2	230	1	0	0	0	0	1	0	0	0	15140	1464	51	3	629	3	SREBF1	17	17717630	Missense_Mutation	SNP	T	TCGA-HT-8105-01A-11D-2395-08	10140509	17717630	63477580	50	9704			2	25		2	2	21	N	T_G	4.005509e-05
SREBF1	6720	broad.mit.edu	37	chr17	17717650	17717650	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtcaggctggctggaccaGactctgccttggcacagccc	6	8	13	14	0	2	1	1	0	1	1	2	2	2	2	3	5	2	3	3	5	0	1			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:17717650G>C	uc002gru.2	-	15	3004	c.2810C>G	c.(2809-2811)tCt>tGt	p.S937C	SREBF1_uc002gro.4_5'Flank|SREBF1_uc002grp.2_Missense_Mutation_p.S556C|SREBF1_uc002grq.2_Missense_Mutation_p.S456C|SREBF1_uc002grr.2_Missense_Mutation_p.S683C|SREBF1_uc002grs.2_Missense_Mutation_p.S913C|SREBF1_uc002grt.2_Missense_Mutation_p.S967C|MIR33B_uc021trh.1_5'Flank	NM_004176	NP_004167	P36956	SRBP1_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 1 (SREBF1), transcript variant 2, mRNA.	937					cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GGCTGGACCAGACTCTGCCTT	0.642													6	5					0	0	1	0	0	C	17717650	G	C	17717650	3	2	230	1	0	0	0	0	1	0	0	0	15140	942	33	5	649	5	SREBF1	17	17717650	Missense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08	20	17717650	63477560	51	9705			2	25		2	2	21	N	T_G	4.005509e-05
RPL23	9349	broad.mit.edu	37	chr17	37006642	37006642	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcctttattgttcactaTgactcctgcattatcttcaa	8	17	4	12	1	3	1	2	1	1	0	5	1	4	1	2	0	1	2	2	0	4	7			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:37006642T>C	uc002hqx.1	-	3	403	c.313A>G	c.(313-315)Ata>Gta	p.I105V	RPL23_uc002hqy.1_3'UTR	NM_000978	NP_000969	P62829	RL23_HUMAN	Homo sapiens ribosomal protein L23 (RPL23), mRNA.	105					endocrine pancreas development|ribosomal protein import into nucleus|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome			endometrium(2)|large_intestine(1)	3						TTGTTCACTATGACTCCTGCA	0.423													42	64					0	0	1	0	0	C	37006642	T	C	37006642	3	2	230	1	0	0	0	0	1	0	0	0	13570	1464	51	3	117	3	RPL23	17	37006642	Missense_Mutation	SNP	T	TCGA-HT-8105-01A-11D-2395-08	19288992	37006642	44188568	52	9706											
NAGLU	4669	broad.mit.edu	37	chr17	40695939	40695939	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccgaggccgatttctacGagcagaacagccgctaccag	11	5	12	13	4	1	1	0	0	1	1	1	4	1	1	4	2	5	2	4	2	3	3			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:40695939G>T	uc002hzv.3	+	5	2255	c.1915G>T	c.(1915-1917)Gag>Tag	p.E639*		NM_000263	NP_000254	P54802	ANAG_HUMAN	Homo sapiens N-acetylglucosaminidase, alpha (NAGLU), mRNA.	639						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CGATTTCTACGAGCAGAACAG	0.617													5	12					0.0215528	0.0215528	1	1	0	T	40695939	G	T	40695939	4	4	230	1	0	0	0	0	0	1	0	0	10143	1059	37	5	1937	5	NAGLU	17	40695939	Nonsense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08	3689297	40695939	40499271	53	9707											
G6PC	2538	broad.mit.edu	37	chr17	41063361	41063361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgtccttctgcaagagtgCggtagtgcccctggcatccg	5	11	12	13	2	1	1	0	0	1	1	3	1	3	1	4	2	3	3	4	2	2	3	rs149486847		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:41063361C>T	uc002icb.1	+	4	1071	c.992C>T	c.(991-993)gCg>gTg	p.A331V	G6PC_uc010whf.1_3'UTR	NM_000151	NP_000142	P35575	G6PC_HUMAN	Homo sapiens glucose-6-phosphatase, catalytic subunit (G6PC), mRNA.	331					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding	p.A331V(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TGCAAGAGTGCGGTAGTGCCC	0.572													91	112					0	0	1	0	0	T	41063361	C	T	41063361	3	4	230	1	0	0	0	0	1	0	0	0	6143	768	27	1	1010	1	G6PC	17	41063361	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	367422	41063361	40131849	54	9708											
EFTUD2	9343	broad.mit.edu	37	chr17	42949920	42949920	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggggaaaggatcaggttCtcatcagtggaatacatgct	12	10	13	6	0	3	0	3	0	1	0	4	3	3	3	0	5	2	2	0	5	3	2			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:42949920C>A	uc002ihn.2	-	10	1149	c.888G>T	c.(886-888)gaG>gaT	p.E296D	EFTUD2_uc010wje.1_Missense_Mutation_p.E261D|EFTUD2_uc010wjf.1_Missense_Mutation_p.E286D	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	296						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GGATCAGGTTCTCATCAGTGG	0.562													94	145					9.15355e-43	9.71685e-43	1	1	0	A	42949920	C	A	42949920	3	1	230	1	0	0	0	0	1	0	0	0	4961	912	32	5	2102	5	EFTUD2	17	42949920	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	1886559	42949920	38245290	55	9709											
LAMA3	3909	broad.mit.edu	37	chr18	21437924	21437924	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgagccaggagtgtgtgAcccagggaccggggcttgcc	7	6	17	11	1	0	2	0	2	0	0	0	5	0	4	4	4	2	1	4	4	0	1			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr18:21437924A>G	uc002kuq.3	+	32	4339	c.4253A>G	c.(4252-4254)gAc>gGc	p.D1418G	LAMA3_uc002kur.3_Missense_Mutation_p.D1418G	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1418	Domain III B.|Laminin EGF-like 12.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGAGTGTGTGACCCAGGGACC	0.552													4	111					0	0	1	0	0	G	21437924	A	G	21437924	3	3	230	1	0	0	0	0	1	0	0	0	8607	275	10	3	4383	3	LAMA3	18	21437924	Missense_Mutation	SNP	A	TCGA-HT-8105-01A-11D-2395-08		21437924	56639324	56	9710											
ZNF521	25925	broad.mit.edu	37	chr18	22807299	22807299	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttgttggacgtgtgagTctttaagtggatcttcaagt	7	16	13	5	1	3	1	1	1	2	0	3	3	3	3	0	3	0	2	0	3	2	5			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr18:22807299T>C	uc002kvk.2	-	3	830	c.583A>G	c.(583-585)Act>Gct	p.T195A	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.T195A|ZNF521_uc002kvl.2_5'UTR	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	195					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GACGTGTGAGTCTTTAAGTGG	0.468			T	PAX5	ALL								5	62					0	0	1	0	0	C	22807299	T	C	22807299	3	2	230	1	0	0	0	0	1	0	0	0	17962	1667	58	3	3372	3	ZNF521	18	22807299	Missense_Mutation	SNP	T	TCGA-HT-8105-01A-11D-2395-08	1369375	22807299	55269949	57	9711											
LMAN1	3998	broad.mit.edu	37	chr18	57006123	57006123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgatttcaagatgaatacGattctgtccttcaaagactt	12	15	6	8	1	3	4	2	2	1	2	4	5	4	4	1	0	1	0	1	0	4	6			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr18:57006123G>A	uc002lhz.3	-	8	1050	c.1018C>T	c.(1018-1020)Cgt>Tgt	p.R340C		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	340					ER to Golgi vesicle-mediated transport|blood coagulation|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein transport	ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	AGATGAATACGATTCTGTCCT	0.373													5	104					0	0	1	0	0	A	57006123	G	A	57006123	3	1	230	1	0	0	0	0	1	0	0	0	8836	1058	37	2	534	2	LMAN1	18	57006123	Missense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08	34198824	57006123	21071125	58	9712											
OR7A5	26659	broad.mit.edu	37	chr19	14938184	14938184	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtctttattcctcagactAtagataaaggggttcagcat	12	14	8	7	0	3	2	2	0	1	2	4	2	4	2	1	2	1	2	1	2	5	7			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr19:14938184A>G	uc002mzw.3	-	0	1093	c.870T>C	c.(868-870)taT>taC	p.Y290Y	OR7A5_uc010xoa.2_Silent_p.Y290Y	NM_017506	NP_059976	Q15622	OR7A5_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 5 (OR7A5), mRNA.	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y290Y(4)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						TCCTCAGACTATAGATAAAGG	0.478													4	105					0	0	1	0	0	G	14938184	A	G	14938184	2	3	230	1	0	0	0	0	0	0	0	1	11216	456	16	3		3	OR7A5	19	14938184	Silent	SNP	A	TCGA-HT-8105-01A-11D-2395-08		14938184	44190799	59	9713											
CIC	23152	broad.mit.edu	37	chr19	42794910	42794911	+	Frame_Shift_Del	DEL	CT	CT	-																															atggggccccagcagctcccCtgtcccgtcctgccgccacc																										TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr19:42794910_42794911delCT	uc002otf.1	+	9	2030_2031	c.1990_1991delCT	c.(1990-1992)ctgfs	p.L664fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	664	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGCAGCTCCCCTGTCCCGTCCT	0.688			"Mis, F, S"		oligodendroglioma								17	9	---	---	---	---						-	42794911	CT	-	42794910	7	5	230	1	0	1	0	1	0	0	0	0	3424	680	24	0	2028	0	CIC	19	42794910	Frame_Shift_Del	DEL	CT	TCGA-HT-8105-01A-11D-2395-08	27856726	42794910	16334073	60	9714											
SIRPD	128646	broad.mit.edu	37	chr20	1517874	1517874	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttctctcaggcagggcCgagaggcaggtatgggcatc	7	9	15	10	1	2	1	1	0	1	1	4	2	2	1	1	5	0	5	1	5	1	2			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr20:1517874C>T	uc002wfi.3	-	2	548	c.504G>A	c.(502-504)tcG>tcA	p.S168S		NM_178460	NP_848555	Q9H106	SIRPD_HUMAN	Homo sapiens signal-regulatory protein delta (SIRPD), mRNA.	168						extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						CAGGCAGGGCCGAGAGGCAGG	0.592													60	104					0	0	1	0	0	T	1517874	C	T	1517874	2	4	230	1	0	0	0	0	0	0	0	1	14335	639	23	2		2	SIRPD	20	1517874	Silent	SNP	C	TCGA-HT-8105-01A-11D-2395-08		1517874	61507646	61	9715											
CRLF2	64109	broad.mit.edu	37	chrX	1317467	1317467	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacctctgaccagtcgcttgGgtatgtgtctggcccatata	7	12	10	12	1	2	1	0	1	2	0	3	1	2	1	3	2	0	2	3	2	3	4			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chrX:1317467G>T	uc004cpk.2	-	4	600	c.598C>A	c.(598-600)Cca>Aca	p.P200T	CRLF2_uc022brt.1_Missense_Mutation_p.P200T|CRLF2_uc004cpl.2_Missense_Mutation_p.P88T|CRLF2_uc022brs.1_Missense_Mutation_p.P200T	NM_022148	NP_071431	Q9HC73	CRLF2_HUMAN	Homo sapiens cytokine receptor-like factor 2 (CRLF2), transcript variant 1, mRNA.	200	Fibronectin type-III.					extracellular region|integral to membrane|plasma membrane	receptor activity	p.Y199*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CAGTCGCTTGGGTATGTGTCT	0.532			"Mis, T"	"P2RY8, IGH@"	"B-ALL, Downs associated ALL"								67	103					1.46168e-27	1.52812e-27	1	1	0	T	1317467	G	T	1317467	3	4	230	1	0	0	0	0	1	0	0	0	3887	1232	43	5	183	5	CRLF2	23	1317467	Missense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08		1317467	153953093	62	9716											
MYCBP	26292	broad.mit.edu	37	chr1	39330370	39330370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgcttctcctcctgaggtGgttcatactgagcaagctat	8	12	9	12	1	2	2	1	2	1	0	4	2	3	2	2	2	3	4	2	2	3	4			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr1:39330370G>A	uc021olq.1	-	4	464	c.305C>T	c.(304-306)cCa>cTa	p.P102L	RRAGC_uc001ccr.2_5'UTR|MYCBP_uc001ccs.3_Missense_Mutation_p.P95L	NM_012333	NP_036465	Q99417	MYCBP_HUMAN	Homo sapiens c-myc binding protein (MYCBP), transcript variant 1, mRNA.	95					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	mitochondrion|nucleus	protein binding|transcription coactivator activity			large_intestine(1)|lung(1)|skin(1)	3	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)				CTCCTGAGGTGGTTCATACTG	0.328													9	47					0	0	1	0	0	A	39330370	G	A	39330370	3	1	231	1	0	0	0	0	1	0	0	0	10017	1348	47	3	31	3	MYCBP	1	39330370	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08		39330370	209920251	1	9717											
SCN1A	6323	broad.mit.edu	37	chr2	166897764	166897764	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttcctactgtaagcacatTattgaaatggtccgtcattg	10	15	8	8	1	1	1	1	1	0	0	3	1	3	1	2	1	2	3	2	1	4	6			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr2:166897764T>A	uc002udo.4	-	14	2619	c.2392A>T	c.(2392-2394)Aat>Tat	p.N798Y	SCN1A_uc010fpk.3_Missense_Mutation_p.N770Y|SCN1A_uc021vsb.1_Missense_Mutation_p.N787Y	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	798						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GTAAGCACATTATTGAAATGG	0.363													18	60					0	0	1	0	0	A	166897764	T	A	166897764	3	1	231	1	0	0	0	0	1	0	0	0	13914	1754	61	5	3693	5	SCN1A	2	166897764	Missense_Mutation	SNP	T	TCGA-HT-8106-01A-11D-2395-08		166897764	76301609	2	9718											
TTN	7273	broad.mit.edu	37	chr2	179585690	179585690	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctggcgtcaccaacacCattatgagcctcacaaatgt	12	8	8	13	1	2	1	2	1	0	0	2	1	2	1	3	1	3	2	3	1	3	1			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr2:179585690C>A	uc021vsy.1	-	75	19549	c.19324G>T	c.(19324-19326)Ggt>Tgt	p.G6442C	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G3103C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7369							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACCAACACCATTATGAGCC	0.433													5	60					0.014758	0.014758	1	1	0	A	179585690	C	A	179585690	3	1	231	1	0	0	0	0	1	0	0	0	16732	594	21	5	81609	5	TTN	2	179585690	Missense_Mutation	SNP	C	TCGA-HT-8106-01A-11D-2395-08	12687926	179585690	63613683	3	9719											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								11	48					0	0	1	0	0	T	209113112	C	T	209113112	3	4	231	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8106-01A-11D-2395-08	29527422	209113112	34086261	4	9720											
TRANK1	9881	broad.mit.edu	37	chr3	36875229	36875229	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggtctgcagcttctgctaAgcgtttccgagacttcaaga	9	11	10	11	2	3	2	1	0	2	2	4	3	4	2	1	1	4	4	1	1	2	4			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr3:36875229A>G	uc003cgj.3	-	20	5961	c.5713T>C	c.(5713-5715)Tta>Cta	p.L1905L		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1905					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GCTTCTGCTAAGCGTTTCCGA	0.512													8	107					0	0	1	0	0	G	36875229	A	G	36875229	2	3	231	1	0	0	0	0	0	0	0	1	16451	69	3	4		4	TRANK1	3	36875229	Silent	SNP	A	TCGA-HT-8106-01A-11D-2395-08		36875229	161147201	5	9721											
ITIH3	3699	broad.mit.edu	37	chr3	52836815	52836815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcaccattgagcagctgctgGagaagcggtgagcagagtcc	10	7	14	10	1	1	4	1	2	0	2	2	5	2	4	2	2	5	4	2	2	1	1			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr3:52836815G>A	uc003dfv.2	+	12	1738	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K	ITIH3_uc011bek.1_Intron	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.	568					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GCAGCTGCTGGAGAAGCGGTG	0.622													4	33					0	0	1	0	0	A	52836815	G	A	52836815	3	1	231	1	0	0	0	0	1	0	0	0	7905	1175	41	3	1752	3	ITIH3	3	52836815	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08	15961586	52836815	145185615	6	9722											
NKX3-2	579	broad.mit.edu	37	chr4	13543758	13543758	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtattgtctctggtcgtcGcgcaccagcacctttacggc	6	11	11	13	4	1	0	0	0	1	0	4	0	1	0	2	3	2	3	2	3	2	4			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr4:13543758G>C	uc003gmx.2	-	1	937	c.861C>G	c.(859-861)cgC>cgG	p.R287R		NM_001189	NP_001180	P78367	NKX32_HUMAN	Homo sapiens NK3 homeobox 2 (NKX3-2), mRNA.	287					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R287H(1)		breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						TCTGGTCGTCGCGCACCAGCA	0.647													7	19					0	0	1	0	0	C	13543758	G	C	13543758	2	2	231	1	0	0	0	0	0	0	0	1	10456	1074	38	5		5	NKX3-2	4	13543758	Silent	SNP	G	TCGA-HT-8106-01A-11D-2395-08		13543758	177610518	7	9723											
RBPJ	3516	broad.mit.edu	37	chr4	26432517	26432517	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggagcaatccttcgagccaAttcaagccaggtgcccccta	11	7	9	14	1	1	0	1	0	0	0	3	2	2	1	5	2	4	1	5	2	4	3	rs1064404		TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr4:26432517A>G	uc003grx.2	+	11	1627	c.1391A>G	c.(1390-1392)aAt>aGt	p.N464S	RBPJ_uc003gry.2_Missense_Mutation_p.N449S|RBPJ_uc003grz.2_Missense_Mutation_p.N464S|RBPJ_uc003gsa.2_Missense_Mutation_p.N450S|RBPJ_uc003gsb.2_Missense_Mutation_p.N451S	NM_005349	NP_005340	Q06330	SUH_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region (RBPJ), transcript variant 1, mRNA.	464					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				CTTCGAGCCAATTCAAGCCAG	0.498													8	84					0	0	1	0	0	G	26432517	A	G	26432517	3	3	231	1	0	0	0	0	1	0	0	0	13161	101	4	3	1496	3	RBPJ	4	26432517	Missense_Mutation	SNP	A	TCGA-HT-8106-01A-11D-2395-08	12888759	26432517	164721759	8	9724											
FAT4	79633	broad.mit.edu	37	chr4	126239282	126239282	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcccagcttgtagtaactctCctagatgtgaatgatgaaaa	13	11	9	8	0	1	4	0	3	1	1	2	4	1	4	2	0	2	3	2	0	6	4			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr4:126239282C>G	uc003ifj.4	+	0	1716	c.1716C>G	c.(1714-1716)ctC>ctG	p.L572L		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	572	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TAGTAACTCTCCTAGATGTGA	0.498											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	58					0	0	1	0	0	G	126239282	C	G	126239282	2	3	231	1	0	0	0	0	0	0	0	1	5692	842	30	5		5	FAT4	4	126239282	Silent	SNP	C	TCGA-HT-8106-01A-11D-2395-08	99806765	126239282	64914994	9	9725											
DCLK2	166614	broad.mit.edu	37	chr4	151153981	151153981	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcaaaccagagaatctcttgGtatgtcatccctgctttttc	9	15	6	11	0	3	1	2	0	1	1	6	2	4	1	2	1	2	2	2	1	3	4			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr4:151153981G>A	uc003ilo.4	+	11	2371	c.1617_splice	c.e11+1	p.L539_splice	DCLK2_uc003ilp.4_Splice_Site|DCLK2_uc003ilm.4_Splice_Site_p.L522_splice|DCLK2_uc003iln.4_Splice_Site_p.L521_splice	NM_001040261	NP_001035351	Q8N568	DCLK2_HUMAN	Homo sapiens doublecortin-like kinase 2 (DCLK2), transcript variant 2, mRNA.	522	Protein kinase.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GAATCTCTTGGTATGTCATCC	0.438													9	112					0	0	1	0	0	A	151153981	G	A	151153981	5	1	231	1	0	0	0	0	0	0	1	0	4292	1275	44	3	1605	3	DCLK2	4	151153981	Splice_Site	SNP	G	TCGA-HT-8106-01A-11D-2395-08	24914699	151153981	40000295	10	9726											
CRHBP	1393	broad.mit.edu	37	chr5	76259212	76259212	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataggagactttgtggagctGctgggaggaactggattgga	10	10	17	4	0	0	1	0	0	0	1	0	7	0	6	0	6	3	2	0	6	2	3			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr5:76259212G>A	uc003ker.3	+	5	1018	c.738G>A	c.(736-738)ctG>ctA	p.L246L		NM_001882	NP_001873	P24387	CRHBP_HUMAN	Homo sapiens corticotropin releasing hormone binding protein (CRHBP), mRNA.	246					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		TTGTGGAGCTGCTGGGAGGAA	0.458													9	104					0	0	1	0	0	A	76259212	G	A	76259212	2	1	231	1	0	0	0	0	0	0	0	1	3870	1306	46	3		3	CRHBP	5	76259212	Silent	SNP	G	TCGA-HT-8106-01A-11D-2395-08		76259212	104656048	11	9727											
PCDHB3	56132	broad.mit.edu	37	chr5	140480508	140480508	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgaatgagaaattggaccGggaggagctatgcggcccca	11	6	14	10	2	0	2	0	2	0	1	0	6	0	5	4	4	2	1	4	4	3	2			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr5:140480508G>A	uc003lio.3	+	0	275	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	92	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATTGGACCGGGAGGAGCTA	0.483													10	104					0	0	1	0	0	A	140480508	G	A	140480508	3	1	231	1	0	0	0	0	1	0	0	0	11543	1116	39	2	277	2	PCDHB3	5	140480508	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08	64221296	140480508	40434752	12	9728											
LSM11	134353	broad.mit.edu	37	chr5	157178479	157178479	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttcacatccgcactttcaAgggacttcggggcgtctgta	7	12	11	11	3	3	0	2	0	1	0	5	1	4	1	1	3	0	3	1	3	2	4			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr5:157178479A>G	uc003lxe.1	+	1	534	c.530A>G	c.(529-531)aAg>aGg	p.K177R		NM_173491	NP_775762	P83369	LSM11_HUMAN	Homo sapiens LSM11, U7 small nuclear RNA associated (LSM11), mRNA.	177	SM 1.				S phase of mitotic cell cycle|histone mRNA 3'-end processing|termination of RNA polymerase II transcription	U7 snRNP|histone pre-mRNA 3'end processing complex|nucleoplasm	U7 snRNA binding|protein binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGCACTTTCAAGGGACTTCGG	0.507													7	90					0	0	1	0	0	G	157178479	A	G	157178479	3	3	231	1	0	0	0	0	1	0	0	0	9052	72	3	4	536	4	LSM11	5	157178479	Missense_Mutation	SNP	A	TCGA-HT-8106-01A-11D-2395-08	16697971	157178479	23736781	13	9729											
CRISP1	167	broad.mit.edu	37	chr6	49814258	49814258	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagtggtcagtagttatgTcatcatccgttgttgtccat	7	17	10	7	1	3	0	3	0	0	0	5	0	5	0	2	1	0	5	2	1	3	5			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr6:49814258T>C	uc003ozw.2	-	4	489	c.410A>G	c.(409-411)gAc>gGc	p.D137G	CRISP1_uc003ozx.2_Missense_Mutation_p.D137G|CRISP1_uc021zaj.1_Missense_Mutation_p.D137G	NM_001131	NP_001192149	P54107	CRIS1_HUMAN	Homo sapiens cysteine-rich secretory protein 1 (CRISP1), transcript variant 1, mRNA.	137					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					AGTAGTTATGTCATCATCCGT	0.403													6	79					0	0	1	0	0	C	49814258	T	C	49814258	3	2	231	1	0	0	0	0	1	0	0	0	3879	1667	58	3	355	3	CRISP1	6	49814258	Missense_Mutation	SNP	T	TCGA-HT-8106-01A-11D-2395-08		49814258	121300809	14	9730											
TINAG	27283	broad.mit.edu	37	chr6	54254705	54254705	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagcttggggccaactgacGagttctgatgaaccataaca	12	8	11	10	1	1	3	0	3	1	0	1	4	1	3	2	2	4	3	2	2	3	3			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr6:54254705G>A	uc003pcj.2	+	10	1559	c.1413G>A	c.(1411-1413)acG>acA	p.T471T	TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	471					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GCCAACTGACGAGTTCTGATG	0.408													9	123					0	0	1	0	0	A	54254705	G	A	54254705	2	1	231	1	0	0	0	0	0	0	0	1	15918	1045	37	2		2	TINAG	6	54254705	Silent	SNP	G	TCGA-HT-8106-01A-11D-2395-08	4440447	54254705	116860362	15	9731											
MUC17	140453	broad.mit.edu	37	chr7	100679992	100679992	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgccggtactcagttctgaGgctagcaccctttcagcaac	9	9	9	14	2	3	1	2	1	1	0	3	1	3	1	2	2	4	5	2	2	3	4	rs148096926	byFrequency	TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr7:100679992G>T	uc003uxp.1	+	2	5348	c.5295G>T	c.(5293-5295)gaG>gaT	p.E1765D	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1765	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCAGTTCTGAGGCTAGCACCC	0.502													87	416					3.62344e-47	4.13072e-47	1	1	0	T	100679992	G	T	100679992	3	4	231	1	0	0	0	0	1	0	0	0	9974	991	35	5	5305	5	MUC17	7	100679992	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08		100679992	58458671	16	9732											
NCOA2	10499	broad.mit.edu	37	chr8	71044226	71044226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcaagtcatctggagaactgCcaaatggctgcctgtaaaga	13	8	11	9	0	2	2	1	0	1	2	2	3	2	2	2	2	3	3	2	2	5	1			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr8:71044226C>T	uc003xyn.1	-	15	3332	c.3170G>A	c.(3169-3171)gGc>gAc	p.G1057D	NCOA2_uc011lfb.1_Missense_Mutation_p.G145D	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	1057					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TGGAGAACTGCCAAATGGCTG	0.453			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"								3	25					0	0	1	0	0	T	71044226	C	T	71044226	3	4	231	1	0	0	0	0	1	0	0	0	10229	739	26	3	1256	3	NCOA2	8	71044226	Missense_Mutation	SNP	C	TCGA-HT-8106-01A-11D-2395-08		71044226	75319796	17	9733											
GAPVD1	26130	broad.mit.edu	37	chr9	128094894	128094894	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcactagtccagacatggAtgaaataactcacggtaaga	15	9	9	8	1	2	3	2	1	0	2	3	4	3	4	1	2	1	1	1	2	4	3			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr9:128094894A>G	uc004bpp.3	+	12	2574	c.2414A>G	c.(2413-2415)gAt>gGt	p.D805G	GAPVD1_uc011lzs.1_Missense_Mutation_p.D805G|GAPVD1_uc004bpq.3_Missense_Mutation_p.D805G|GAPVD1_uc010mwx.3_Missense_Mutation_p.D805G|GAPVD1_uc004bpr.3_Missense_Mutation_p.D784G|GAPVD1_uc004bps.3_Missense_Mutation_p.D805G|GAPVD1_uc010mwy.1_Missense_Mutation_p.D664G	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.	805					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CCAGACATGGATGAAATAACT	0.448													14	58					0	0	1	0	0	G	128094894	A	G	128094894	3	3	231	1	0	0	0	0	1	0	0	0	6239	333	12	3	2460	3	GAPVD1	9	128094894	Missense_Mutation	SNP	A	TCGA-HT-8106-01A-11D-2395-08		128094894	13118537	18	9734											
MAN1B1	11253	broad.mit.edu	37	chr9	139996094	139996094	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagctggagttccgggagctCtcccgtctcacaggggataa	8	8	13	12	2	2	0	1	0	2	0	5	3	3	3	2	4	2	3	2	4	1	2			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr9:139996094C>T	uc004cld.2	+	7	1259	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L	MAN1B1_uc004clc.2_Silent_p.L309L|MAN1B1_uc011meo.1_Silent_p.L309L|MAN1B1_uc011mep.2_Silent_p.L408L|MAN1B1_uc010ncc.2_Non-coding_Transcript|MAN1B1_uc004clf.1_5'Flank	NM_016219	NP_057303	Q9UKM7	MA1B1_HUMAN	Homo sapiens mannosidase, alpha, class 1B, member 1 (MAN1B1), transcript variant 1, mRNA.	408					oligosaccharide metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		TCCGGGAGCTCTCCCGTCTCA	0.597													5	18					0	0	1	0	0	T	139996094	C	T	139996094	2	4	231	1	0	0	0	0	0	0	0	1	9212	900	32	3		3	MAN1B1	9	139996094	Silent	SNP	C	TCGA-HT-8106-01A-11D-2395-08	11901200	139996094	1217337	19	9735											
EBF3	253738	broad.mit.edu	37	chr10	131671806	131671806	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgttgtgcacaaacatgtTgtctgacacggccagcacgt	10	11	10	10	2	1	1	0	1	1	0	1	1	1	1	1	1	3	4	1	1	1	3			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr10:131671806T>G	uc021qav.1	-	7	750	c.649A>C	c.(649-651)Aac>Cac	p.N217H	EBF3_uc001lki.2_Missense_Mutation_p.N231H	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	231					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		ACAAACATGTTGTCTGACACG	0.512													4	47					0	0	1	0	0	G	131671806	T	G	131671806	3	3	231	1	0	0	0	0	1	0	0	0	4882	1812	63	5	1000	5	EBF3	10	131671806	Missense_Mutation	SNP	T	TCGA-HT-8106-01A-11D-2395-08		131671806	3862941	20	9736											
JAKMIP3	282973	broad.mit.edu	37	chr10	133967332	133967332	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggatctggagagcgagaagGttggtggcaccttcaccgag	9	8	16	8	2	2	2	1	0	1	2	2	6	2	3	2	5	1	2	2	5	1	2			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr10:133967332G>T	uc001lkx.4	+	17	2136	c.2136_splice	c.e17+1	p.K712_splice	JAKMIP3_uc009yba.1_Splice_Site_p.K149_splice	NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GAGCGAGAAGGTTGGTGGCAC	0.592													12	178					2.80697e-09	3.13721e-09	1	1	0	T	133967332	G	T	133967332	5	4	231	1	0	0	0	0	0	0	1	0	7942	1275	44	5	2203	5	JAKMIP3	10	133967332	Splice_Site	SNP	G	TCGA-HT-8106-01A-11D-2395-08	2295526	133967332	1567415	21	9737											
TH	7054	broad.mit.edu	37	chr11	2190969	2190969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacggccttcccctccttctCctcaaaggccacagcctcca	7	8	5	21	1	2	0	1	0	1	0	6	0	5	0	8	2	1	0	8	2	1	2			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr11:2190969C>T	uc001lvq.3	-	2	335	c.316G>A	c.(316-318)Gag>Aag	p.E106K	TH_uc001lvp.3_Missense_Mutation_p.E102K|TH_uc001lvr.3_Missense_Mutation_p.E75K|TH_uc010qxj.2_Missense_Mutation_p.E79K|TH_uc001lvs.3_Missense_Mutation_p.E75K|TH_uc001lvt.3_Missense_Mutation_p.E79K|TH_uc009ydh.1_5'Flank	NM_199292	NP_954986	P07101	TY3H_HUMAN	Homo sapiens tyrosine hydroxylase (TH), transcript variant 1, mRNA.	106					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CCCTCCTTCTCCTCAAAGGCC	0.692													6	53					0	0	1	0	0	T	2190969	C	T	2190969	3	4	231	1	0	0	0	0	1	0	0	0	15835	864	30	3	1318	3	TH	11	2190969	Missense_Mutation	SNP	C	TCGA-HT-8106-01A-11D-2395-08		2190969	132815547	22	9738											
MMP26	56547	broad.mit.edu	37	chr11	5012621	5012621	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccatgaagatggttggcccTttgatgggccaggtggtatc	7	11	14	9	0	0	3	0	2	0	1	1	3	0	3	3	5	0	2	3	5	2	3			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr11:5012621T>A	uc001lzv.3	+	3	508	c.490T>A	c.(490-492)Ttt>Att	p.F164I		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	164					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGGTTGGCCCTTTGATGGGCC	0.463													53	192					0	0	1	0	0	A	5012621	T	A	5012621	3	1	231	1	0	0	0	0	1	0	0	0	9663	1609	56	5	504	5	MMP26	11	5012621	Missense_Mutation	SNP	T	TCGA-HT-8106-01A-11D-2395-08	2821652	5012621	129993895	23	9739											
BEST1	7439	broad.mit.edu	37	chr11	61724345	61724345	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctccggcagaacacaagcagTtggagaaactgagcctacca	14	5	10	12	1	0	3	0	1	0	2	1	4	1	3	3	2	5	3	3	2	4	2			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr11:61724345T>C	uc001nsr.2	+	3	903	c.331T>C	c.(331-333)Ttg>Ctg	p.L111L	BEST1_uc010rlp.2_Silent_p.L111L|BEST1_uc001nsq.3_Silent_p.L65L|BEST1_uc010rlq.1_Silent_p.L111L|BEST1_uc010rlr.1_Silent_p.L171L|BEST1_uc010rls.1_Intron|BEST1_uc001nss.3_Silent_p.L171L|BEST1_uc009ynt.3_Non-coding_Transcript|BEST1_uc010rlt.2_Silent_p.L111L|BEST1_uc001nst.3_Silent_p.L111L|BEST1_uc010rlu.1_Silent_p.L65L|BEST1_uc010rlv.2_Silent_p.L65L	NM_001139443	NP_001132915	O76090	BEST1_HUMAN	Homo sapiens bestrophin 1 (BEST1), transcript variant 2, mRNA.	171					response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						ACACAAGCAGTTGGAGAAACT	0.577													29	264					0	0	1	0	0	C	61724345	T	C	61724345	2	2	231	1	0	0	0	0	0	0	0	1	1404	1722	60	3		3	BEST1	11	61724345	Silent	SNP	T	TCGA-HT-8106-01A-11D-2395-08	56711724	61724345	73282171	24	9740											
GALNT6	11226	broad.mit.edu	37	chr12	51751986	51751986	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgcaggtaccaggaaaaGttgtgacagtgcagttgttc	10	12	13	6	0	0	1	0	1	0	0	1	2	0	2	1	2	3	6	1	2	3	5			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr12:51751986G>T	uc001ryk.2	-	7	1653	c.1428C>A	c.(1426-1428)aaC>aaA	p.N476K	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Missense_Mutation_p.N476K|GALNT6_uc001ryj.1_Missense_Mutation_p.N41K	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	476					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACCAGGAAAAGTTGTGACAGT	0.517													21	100					2.27731e-05	2.44918e-05	1	1	0	T	51751986	G	T	51751986	3	4	231	1	0	0	0	0	1	0	0	0	6217	1020	36	5	456	5	GALNT6	12	51751986	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08		51751986	82099909	25	9741											
STAB2	55576	broad.mit.edu	37	chr12	104099417	104099417	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatatttcacagggtaatgAgaagaggagatgcatctata	16	11	10	4	0	2	3	1	1	1	3	2	5	2	3	0	2	1	2	0	2	6	6			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr12:104099417A>G	uc001tjw.3	+	36	4094	c.3908A>G	c.(3907-3909)gAg>gGg	p.E1303G		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1303					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAGGGTAATGAGAAGAGGAGA	0.428													7	30					0	0	1	0	0	G	104099417	A	G	104099417	3	3	231	1	0	0	0	0	1	0	0	0	15237	304	11	4	4054	4	STAB2	12	104099417	Missense_Mutation	SNP	A	TCGA-HT-8106-01A-11D-2395-08	52347431	104099417	29752478	26	9742											
PCDH20	64881	broad.mit.edu	37	chr13	61987072	61987072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggactccagaacacttcctCcaatcttactgaaaagttta	13	11	6	11	0	1	2	0	1	1	1	4	3	4	3	3	1	2	1	3	1	6	4			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr13:61987072C>T	uc001vid.4	-	1	1524	c.1160G>A	c.(1159-1161)gGa>gAa	p.G387E	PCDH20_uc010thj.2_Missense_Mutation_p.G387E	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	360	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AACACTTCCTCCAATCTTACT	0.398													8	100					0	0	1	0	0	T	61987072	C	T	61987072	3	4	231	1	0	0	0	0	1	0	0	0	11515	855	30	3	1699	3	PCDH20	13	61987072	Missense_Mutation	SNP	C	TCGA-HT-8106-01A-11D-2395-08		61987072	53182806	27	9743											
MYCBP2	23077	broad.mit.edu	37	chr13	77862494	77862494	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atatctggtatgattactgtAttctctaagttttcagactg	10	18	7	6	0	3	2	1	1	2	1	4	2	3	2	0	1	1	3	0	1	5	8			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr13:77862494A>T	uc021rks.1	-	2	663	c.396T>A	c.(394-396)aaT>aaA	p.N132K	MYCBP2_uc010aev.3_5'UTR	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGATTACTGTATTCTCTAAGT	0.323													6	39					0	0	1	0	0	T	77862494	A	T	77862494	3	4	231	1	0	0	0	0	1	0	0	0	10018	446	16	5	13964	5	MYCBP2	13	77862494	Missense_Mutation	SNP	A	TCGA-HT-8106-01A-11D-2395-08	15875422	77862494	37307384	28	9744											
AGBL1	123624	broad.mit.edu	37	chr15	86838484	86838484	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgctttatttctgctccAgactcatcttgacatcctgg	6	15	7	13	0	3	2	1	1	2	1	5	2	5	2	3	1	2	2	3	1	1	4			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr15:86838484A>C	uc002blz.1	+	16	2163	c.2083_splice	c.e16-2	p.T695_splice	AGBL1_uc002bma.1_Splice_Site_p.T426_splice|AGBL1_uc002bmb.1_Splice_Site_p.T389_splice	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	695					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TTTCTGCTCCAGACTCATCTT	0.398													5	28					0	0	1	0	0	C	86838484	A	C	86838484	5	2	231	1	0	0	0	0	0	0	1	0	375	202	7	5	2139	5	AGBL1	15	86838484	Splice_Site	SNP	A	TCGA-HT-8106-01A-11D-2395-08		86838484	15692908	29	9745											
CIITA	4261	broad.mit.edu	37	chr16	11002910	11002910	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccttgagcgacacggtggcGctgtgggagtccctgcagca	6	7	16	12	3	0	1	0	1	0	0	1	3	1	2	2	3	3	3	2	3	0	1	rs148091568	byFrequency	TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr16:11002910G>A	uc002daj.4	+	11	2818	c.2685G>A	c.(2683-2685)gcG>gcA	p.A895A	CIITA_uc002dai.4_Silent_p.A894A|CIITA_uc002dak.4_Silent_p.A310A|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	894					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	p.A894A(1)		central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						ACACGGTGGCGCTGTGGGAGT	0.602			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "								7	56					0	0	1	0	0	A	11002910	G	A	11002910	2	1	231	1	0	0	0	0	0	0	0	1	3428	1074	38	1		1	CIITA	16	11002910	Silent	SNP	G	TCGA-HT-8106-01A-11D-2395-08		11002910	79351843	30	9746											
TP53	7157	broad.mit.edu	37	chr17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcctgcttgcttacctcGcttagtgctccctgggggca	3	14	11	13	1	0	0	0	0	0	0	3	0	2	0	3	2	4	5	3	2	2	4	rs121913344		TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr17:7577022G>A	uc002gim.2	-	7	1110	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Nonsense_Mutation_p.R306*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.R174*|TP53_uc010cnf.1_Nonsense_Mutation_p.R174*|TP53_uc002gii.1_Nonsense_Mutation_p.R174*|TP53_uc010cni.1_Nonsense_Mutation_p.R306*|TP53_uc010cnh.1_Nonsense_Mutation_p.R306*|TP53_uc002gij.2_Nonsense_Mutation_p.R306*|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.	306	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R306*(260)|p.K305*(17)|p.0?(8)|p.R306fs*39(4)|p.?(3)|p.K305N(3)|p.K305fs*1(2)|p.R306R(2)|p.K305R(2)|p.K305K(1)|p.L265_K305del41(1)|p.K305E(1)|p.K305fs*32(1)|p.K305T(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)		TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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)			27	64					0	0	1	0	0	A	7577022	G	A	7577022	4	1	231	1	0	0	0	0	0	1	0	0	16378	1095	38	1	370	1	TP53	17	7577022	Nonsense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08		7577022	73618188	31	9747											
MYOCD	93649	broad.mit.edu	37	chr17	12655919	12655919	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattaccagtcttcctcttcTaccagtgccctgtccaacgg	8	12	6	15	1	3	0	0	0	3	0	5	0	5	0	5	1	4	0	5	1	4	4			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr17:12655919T>A	uc002gno.2	+	9	1613	c.1314T>A	c.(1312-1314)tcT>tcA	p.S438S	MYOCD_uc002gnn.2_Silent_p.S438S|MYOCD_uc002gnp.1_Silent_p.S342S|MYOCD_uc002gnq.2_Silent_p.S157S	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	438	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CTTCCTCTTCTACCAGTGCCC	0.582													9	126					0	0	1	0	0	A	12655919	T	A	12655919	2	1	231	1	0	0	0	0	0	0	0	1	10087	1509	53	5		5	MYOCD	17	12655919	Silent	SNP	T	TCGA-HT-8106-01A-11D-2395-08	5078897	12655919	68539291	32	9748											
MAPK7	5598	broad.mit.edu	37	chr17	19285244	19285244	+	Frame_Shift_Del	DEL	G	G	-																															ggagcgggagcgaaaggaacGgggggctggggcctctgggg																										TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr17:19285244delG	uc002gvn.3	+	4	2014	c.1628delG	c.(1627-1629)cggfs	p.R543fs	MAPK7_uc002gvo.3_Frame_Shift_Del_p.R404fs|MAPK7_uc002gvq.3_Frame_Shift_Del_p.R543fs|MAPK7_uc002gvp.3_Frame_Shift_Del_p.R543fs	NM_139033	NP_620601	Q13164	MK07_HUMAN	Homo sapiens mitogen-activated protein kinase 7 (MAPK7), transcript variant 1, mRNA.	543	Arg-rich.|May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).|Pro-rich.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cell cycle|cell differentiation|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					cgaaaggaacggggggctggg	0.677													2	4	---	---	---	---						-	19285244	G	-	19285244	7	5	231	1	0	1	0	1	0	0	0	0	9282	1116	39	0	1642	0	MAPK7	17	19285244	Frame_Shift_Del	DEL	G	TCGA-HT-8106-01A-11D-2395-08	6629325	19285244	61909966	33	9749											
DDX52	11056	broad.mit.edu	37	chr17	35974371	35974371	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttcaagagctactttcttCttgctgttctgaccagtgac	7	16	7	11	0	5	3	1	2	4	1	5	3	5	3	1	0	3	3	1	0	2	6			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr17:35974371C>G	uc002hoi.2	-	14	1814	c.1770G>C	c.(1768-1770)aaG>aaC	p.K590N	DDX52_uc002hoh.2_Missense_Mutation_p.K482N	NM_007010	NP_008941	Q9Y2R4	DDX52_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 (DDX52), mRNA.	590	Lys-rich.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				CTACTTTCTTCTTGCTGTTCT	0.323													5	26					0	0	1	0	0	G	35974371	C	G	35974371	3	3	231	1	0	0	0	0	1	0	0	0	4370	912	32	5	33	5	DDX52	17	35974371	Missense_Mutation	SNP	C	TCGA-HT-8106-01A-11D-2395-08	16689127	35974371	45220839	34	9750											
GAST	2520	broad.mit.edu	37	chr17	39871798	39871798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agatgcacccttaggtacagGggccaacagggacctggagc	11	5	14	11	0	0	1	0	0	0	1	0	3	0	3	3	5	4	2	3	5	3	2			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr17:39871798G>A	uc002hxl.3	+	1	177	c.110G>A	c.(109-111)gGg>gAg	p.G37E	JUP_uc010wfs.2_Intron	NM_000805	NP_000796	P01350	GAST_HUMAN	Homo sapiens gastrin (GAST), mRNA.	37						extracellular region	hormone activity	p.G37G(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TTAGGTACAGGGGCCAACAGG	0.627													8	147					0	0	1	0	0	A	39871798	G	A	39871798	3	1	231	1	0	0	0	0	1	0	0	0	6252	1232	43	3	112	3	GAST	17	39871798	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08	3897427	39871798	41323412	35	9751											
ASXL3	80816	broad.mit.edu	37	chr18	31323665	31323665	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atataagcatgttaaaaaccAtccagggaactgacactcca	17	8	6	10	0	0	1	0	1	0	0	2	2	2	2	3	1	3	2	3	1	6	3			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr18:31323665A>G	uc010dmg.1	+	11	3908	c.3853A>G	c.(3853-3855)Atc>Gtc	p.I1285V	ASXL3_uc002kxq.2_Missense_Mutation_p.I992V	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1285	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GTTAAAAACCATCCAGGGAAC	0.408													17	70					0	0	1	0	0	G	31323665	A	G	31323665	3	3	231	1	0	0	0	0	1	0	0	0	1068	217	8	3	3899	3	ASXL3	18	31323665	Missense_Mutation	SNP	A	TCGA-HT-8106-01A-11D-2395-08		31323665	46753583	36	9752											
MUC16	94025	broad.mit.edu	37	chr19	9069935	9069935	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggtttctgtggagatgtaGggtgacattttggaatgatc	9	15	14	3	0	1	3	0	2	1	1	2	5	1	4	0	4	0	2	0	4	2	4			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr19:9069935G>T	uc002mkp.3	-	2	17715	c.17511C>A	c.(17509-17511)ccC>ccA	p.P5837P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5839	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGAGATGTAGGGTGACATTT	0.473													11	119					1.58986e-06	1.74274e-06	1	1	0	T	9069935	G	T	9069935	2	4	231	1	0	0	0	0	0	0	0	1	9973	987	35	5		5	MUC16	19	9069935	Silent	SNP	G	TCGA-HT-8106-01A-11D-2395-08		9069935	50059048	37	9753											
FFAR2	2867	broad.mit.edu	37	chr19	35941277	35941277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagaggcggcgccgagccGtggggctggctgtggtgacg	4	5	20	12	5	0	2	0	1	0	1	0	3	0	2	3	6	1	2	3	6	0	0	rs61746520	byFrequency	TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr19:35941277G>A	uc002nzg.2	+	1	741	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	FFAR2_uc010eea.3_Missense_Mutation_p.V221M	NM_005306	NP_005297	O15552	FFAR2_HUMAN	Homo sapiens free fatty acid receptor 2 (FFAR2), mRNA.	221						integral to plasma membrane	G-protein coupled receptor activity|lipid binding	p.V221E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCGCCGAGCCGTGGGGCTGGC	0.602													9	120					0	0	1	0	0	A	35941277	G	A	35941277	3	1	231	1	0	0	0	0	1	0	0	0	5828	1145	40	1	663	1	FFAR2	19	35941277	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08	26871342	35941277	23187706	38	9754											
BCAM	4059	broad.mit.edu	37	chr19	45322041	45322041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccatgctgtcgctcagttCtatcaccttcgattccaatg	7	13	6	15	2	3	0	2	0	1	0	6	1	4	0	4	0	1	3	4	0	2	4			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr19:45322041C>T	uc002ozu.3	+	9	1282	c.1238C>T	c.(1237-1239)tCt>tTt	p.S413F	BCAM_uc002ozt.1_Missense_Mutation_p.S413F	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	413	Ig-like C2-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	p.S413F(2)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				TCGCTCAGTTCTATCACCTTC	0.627													20	138					0	0	1	0	0	T	45322041	C	T	45322041	3	4	231	1	0	0	0	0	1	0	0	0	1344	913	32	3	1276	3	BCAM	19	45322041	Missense_Mutation	SNP	C	TCGA-HT-8106-01A-11D-2395-08	9380764	45322041	13806942	39	9755											
RBPJL	11317	broad.mit.edu	37	chr20	43945326	43945326	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccctggtgctccacccccagGagcccgcggtccctggtgtg	3	7	13	18	2	0	0	0	0	0	0	2	1	2	1	6	4	2	1	6	4	0	0			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr20:43945326G>A	uc002xns.3	+	12	1353	c.1281_splice	c.e12-1	p.R427_splice	RBPJL_uc002xnt.3_Splice_Site_p.E431_splice	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region-like (RBPJL), mRNA.	427	IPT/TIG.				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CCACCCCCAGGAGCCCGCGGT	0.726													3	14					0	0	1	0	0	A	43945326	G	A	43945326	5	1	231	1	0	0	0	0	0	0	1	0	13162	1188	41	3	1327	3	RBPJL	20	43945326	Splice_Site	SNP	G	TCGA-HT-8106-01A-11D-2395-08		43945326	19080194	40	9756											
C20orf151	140893	broad.mit.edu	37	chr20	60990678	60990678	+	Frame_Shift_Del	DEL	T	T	-																															cagggtggcccctggggagaTtttggccactggagatgtcc																										TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr20:60990678delT	uc002ycw.2	-	7	780	c.583delA	c.(583-585)atcfs	p.I195fs		NM_080833	NP_543023	Q8NC74	CT151_HUMAN	Homo sapiens chromosome 20 open reading frame 151 (C20orf151), mRNA.	195										large_intestine(3)|lung(3)|prostate(1)|skin(4)|stomach(1)	12	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;6.43e-06)			CCTGGGGAGATTTTGGCCACT	0.677													7	219	---	---	---	---						-	60990678	T	-	60990678	7	5	231	1	0	1	0	1	0	0	0	0	2091	1493	52	0	1439	0	C20orf151	20	60990678	Frame_Shift_Del	DEL	T	TCGA-HT-8106-01A-11D-2395-08	17045352	60990678	2034842	41	9757											
SMC1B	27127	broad.mit.edu	37	chr22	45779410	45779410	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttaactctttctcatcccaGcatctagccttgtattttaa	9	18	3	11	0	3	0	1	0	3	0	5	0	4	0	2	0	3	2	2	0	4	8			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr22:45779410G>A	uc003bgc.3	-	11	2047	c.1995C>T	c.(1993-1995)tgC>tgT	p.C665C	SMC1B_uc003bgd.3_Silent_p.C665C|SMC1B_uc003bge.1_Silent_p.C448C	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	665	Flexible hinge.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCTCATCCCAGCATCTAGCCT	0.343													8	41					0	0	1	0	0	A	45779410	G	A	45779410	2	1	231	1	0	0	0	0	0	0	0	1	14782	963	34	3		3	SMC1B	22	45779410	Silent	SNP	G	TCGA-HT-8106-01A-11D-2395-08		45779410	5525156	42	9758											
EGFR	1956	broad.mit.edu	37	chr7	55211080	55211080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaaacctgcagatcatcaGaggaaatatgtactacgaaa	18	7	9	7	1	2	2	2	0	0	2	2	5	2	4	1	2	4	2	1	2	7	3			TCGA-HT-8107-01A-13D-2395-08	TCGA-HT-8107-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e07af1d6-d90c-4b64-827a-dbeaaa3bb16a	8e649592-0ef3-47ac-8b96-f05a3785703d	g.chr7:55211080G>A	uc003tqk.3	+	2	569	c.323G>A	c.(322-324)aGa>aAa	p.R108K	EGFR_uc003tqh.3_Missense_Mutation_p.R108K|EGFR_uc003tqi.3_Missense_Mutation_p.R108K|EGFR_uc003tqj.3_Missense_Mutation_p.R108K|EGFR_uc022adm.1_Missense_Mutation_p.R108K|EGFR_uc010kzg.2_Missense_Mutation_p.R108K|EGFR_uc022adn.1_Missense_Mutation_p.R108K|EGFR_uc011kco.2_Missense_Mutation_p.R55K	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	108					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R108K(13)|p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGATCATCAGAGGAAATATG	0.423		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			23	127					0	0	1	0	0	A	55211080	G	A	55211080	3	1	232	1	0	0	0	0	1	0	0	0	4967	942	33	3	333	3	EGFR	7	55211080	Missense_Mutation	SNP	G	TCGA-HT-8107-01A-13D-2395-08		55211080	103927583	1	9759											
TBXA2R	6915	broad.mit.edu	37	chr19	3600465	3600465	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggaggagcgcgtgtgcgaAcccccctgccgcgcgcccgc	6	3	15	17	7	0	0	0	0	0	0	0	3	0	2	5	2	4	0	5	2	2	0			TCGA-HT-8107-01A-13D-2395-08	TCGA-HT-8107-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e07af1d6-d90c-4b64-827a-dbeaaa3bb16a	8e649592-0ef3-47ac-8b96-f05a3785703d	g.chr19:3600465A>C	uc002lyg.2	-	1	555	c.168T>G	c.(166-168)ggT>ggG	p.G56G	TBXA2R_uc021umv.1_Silent_p.G56G	NM_001060	NP_001051	P21731	TA2R_HUMAN	Homo sapiens thromboxane A2 receptor (TBXA2R), transcript variant a, mRNA.	56					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	GCGTGTGCGAACCCCCCTGCC	0.706													5	26					0	0	1	0	0	C	3600465	A	C	3600465	2	2	232	1	0	0	0	0	0	0	0	1	15660	30	2	5		5	TBXA2R	19	3600465	Silent	SNP	A	TCGA-HT-8107-01A-13D-2395-08		3600465	55528518	2	9760											
TTN	7273	broad.mit.edu	37	chr2	179593263	179593263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcacagctactgcttcCgaagtcattttccaccttga	9	12	7	13	1	2	1	2	1	0	0	4	2	4	1	3	1	3	3	3	1	2	5			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr2:179593263C>T	uc021vsy.1	-	62	15883	c.15658G>A	c.(15658-15660)Gga>Aga	p.G5220R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G1881R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6147	Ig-like 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTACTGCTTCCGAAGTCATTT	0.398													5	14					0	0	1	0	0	T	179593263	C	T	179593263	3	4	233	1	0	0	0	0	1	0	0	0	16732	661	23	2	85327	2	TTN	2	179593263	Missense_Mutation	SNP	C	TCGA-HT-8108-01A-11D-2395-08		179593263	63606110	1	9761											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								29	44					0	0	1	0	0	T	209113112	C	T	209113112	3	4	233	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8108-01A-11D-2395-08	29519849	209113112	34086261	2	9762											
EIF4A2	1974	broad.mit.edu	37	chr3	186501406	186501406	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtttttcggatcatgtctGgtggctccgcggattataac	6	15	12	8	3	2	0	1	0	1	0	4	2	3	2	1	5	1	2	1	5	2	4			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr3:186501406G>T	uc003fqs.3	+	0	46	c.7G>T	c.(7-9)Ggt>Tgt	p.G3C	EIF4A2_uc003fqu.3_Missense_Mutation_p.G3C|EIF4A2_uc003fqv.3_5'UTR|EIF4A2_uc003fqw.3_5'UTR|SNORD2_uc010hyu.1_5'Flank|EIF4A2_uc011bsb.2_5'Flank	NM_001967	NP_001958	Q14240	IF4A2_HUMAN	Homo sapiens eukaryotic translation initiation factor 4A2 (EIF4A2), mRNA.	3					interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity	p.G3V(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		GATCATGTCTGGTGGCTCCGC	0.572			T	BCL6	NHL								53	86					7.89702e-26	8.61493e-26	1	1	0	T	186501406	G	T	186501406	3	4	233	1	0	0	0	0	1	0	0	0	5025	1348	47	5	9	5	EIF4A2	3	186501406	Missense_Mutation	SNP	G	TCGA-HT-8108-01A-11D-2395-08		186501406	11521024	3	9763											
BBS7	55212	broad.mit.edu	37	chr4	122756377	122756377	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcggacctgacaggttttgGgttgaattcttggagtcaca	8	12	14	7	1	2	2	1	2	1	0	2	4	2	4	1	5	0	2	1	5	1	5			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr4:122756377G>T	uc003ied.3	-	13	1617	c.1433C>A	c.(1432-1434)cCc>cAc	p.P478H	BBS7_uc003iee.2_Missense_Mutation_p.P478H	NM_176824	NP_789794	Q8IWZ6	BBS7_HUMAN	Homo sapiens Bardet-Biedl syndrome 7 (BBS7), transcript variant 1, mRNA.	478					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ACAGGTTTTGGGTTGAATTCT	0.393									Bardet-Biedl syndrome				18	44					5.3912e-06	5.70833e-06	1	1	0	T	122756377	G	T	122756377	3	4	233	1	0	0	0	0	1	0	0	0	1341	1232	43	5	743	5	BBS7	4	122756377	Missense_Mutation	SNP	G	TCGA-HT-8108-01A-11D-2395-08		122756377	68397899	4	9764											
ROPN1L	83853	broad.mit.edu	37	chr5	10461352	10461352	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacggacgatccggagggCgggcccgctcgcatcccctt	5	6	13	17	6	1	0	1	0	0	0	4	3	3	2	4	4	0	2	4	4	0	1			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr5:10461352C>T	uc021xwo.1	+	4	657	c.474C>T	c.(472-474)ggC>ggT	p.G158G	ROPN1L_uc003jex.4_Silent_p.G158G	NM_001201466	NP_001188395	Q96C74	ROP1L_HUMAN	Homo sapiens rhophilin associated tail protein 1-like (ROPN1L), transcript variant 2, mRNA.	158					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						ATCCGGAGGGCGGGCCCGCTC	0.567													53	87					0	0	1	0	0	T	10461352	C	T	10461352	2	4	233	1	0	0	0	0	0	0	0	1	13525	755	27	1		1	ROPN1L	5	10461352	Silent	SNP	C	TCGA-HT-8108-01A-11D-2395-08		10461352	170453908	5	9765											
SIM1	6492	broad.mit.edu	37	chr6	100911318	100911318	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttctccctcctagtccgCgcagcatttttggacttttc	4	16	6	15	2	1	0	0	0	1	0	6	1	4	1	4	1	1	2	4	1	1	6			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr6:100911318C>T	uc003pqj.4	-	0	494	c.27G>A	c.(25-27)gcG>gcA	p.A9A	SIM1_uc021zdg.1_Silent_p.A9A|SIM1_uc010kcu.3_Silent_p.A9A	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	9					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TCCTAGTCCGCGCAGCATTTT	0.423													24	148					0	0	1	0	0	T	100911318	C	T	100911318	2	4	233	1	0	0	0	0	0	0	0	1	14323	755	27	1		1	SIM1	6	100911318	Silent	SNP	C	TCGA-HT-8108-01A-11D-2395-08		100911318	70203749	6	9766											
SYNE1	23345	broad.mit.edu	37	chr6	152485384	152485384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctctgactcgatgtgagCgagccaggtcctcaggctgc	7	8	13	13	2	2	2	1	2	1	0	4	4	3	2	2	2	4	2	2	2	0	0			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr6:152485384C>T	uc021zhb.1	-	128	23927	c.23704G>A	c.(23704-23706)Gct>Act	p.A7902T	SYNE1_uc003qos.4_Missense_Mutation_p.A2426T|SYNE1_uc003qot.4_Missense_Mutation_p.A7831T|SYNE1_uc003qou.4_Missense_Mutation_p.A7902T|SYNE1_uc011eez.2_Missense_Mutation_p.A104T|SYNE1_uc003qoq.4_Missense_Mutation_p.A104T|SYNE1_uc003qor.4_Missense_Mutation_p.A802T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	7902					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		TCGATGTGAGCGAGCCAGGTC	0.502										HNSCC(10;0.0054)			58	25					0	0	1	0	0	T	152485384	C	T	152485384	3	4	233	1	0	0	0	0	1	0	0	0	15442	768	27	1	2826	1	SYNE1	6	152485384	Missense_Mutation	SNP	C	TCGA-HT-8108-01A-11D-2395-08	51574066	152485384	18629683	7	9767											
MS4A3	932	broad.mit.edu	37	chr11	59830060	59830060	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accttctacacaggctacccGatttggggtgctgtgtttgt	6	14	11	10	1	1	0	0	0	1	0	1	1	1	0	2	3	3	3	2	3	2	5			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr11:59830060G>A	uc001nom.3	+	2	404	c.276G>A	c.(274-276)ccG>ccA	p.P92P	MS4A3_uc001non.3_Intron|MS4A3_uc001noo.3_Intron	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA.	92						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	p.P92Q(1)		endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				CAGGCTACCCGATTTGGGGTG	0.423													47	57					0	0	1	0	0	A	59830060	G	A	59830060	2	1	233	1	0	0	0	0	0	0	0	1	9861	1045	37	2		2	MS4A3	11	59830060	Silent	SNP	G	TCGA-HT-8108-01A-11D-2395-08		59830060	75176456	8	9768											
IL18	3606	broad.mit.edu	37	chr11	112014361	112014361	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacattatagatctatccccCaattcatcctcttttttcaa	12	16	1	12	0	4	1	2	0	2	1	6	1	6	1	3	0	1	0	3	0	6	7			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr11:112014361C>A	uc001pnb.2	-	5	760	c.540G>T	c.(538-540)ttG>ttT	p.L180F	IL18_uc001pna.2_Missense_Mutation_p.L154F|IL18_uc009yym.2_Missense_Mutation_p.L176F	NM_001562	NP_001553	Q14116	IL18_HUMAN	Homo sapiens interleukin 18 (interferon-gamma-inducing factor) (IL18), transcript variant 1, mRNA.	180					T-helper 1 type immune response|angiogenesis|cell-cell signaling|chemokine biosynthetic process|granulocyte macrophage colony-stimulating factor biosynthetic process|interferon-gamma biosynthetic process|interleukin-13 biosynthetic process|interleukin-2 biosynthetic process|positive regulation of NK T cell proliferation|positive regulation of activated T cell proliferation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-17 production|positive regulation of natural killer cell proliferation|regulation of cell adhesion|sleep|type 2 immune response	cytosol|extracellular space	cytokine activity|signal transducer activity						all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055)		ATCTATCCCCCAATTCATCCT	0.388													6	10					0.0215528	0.0221686	1	1	0	A	112014361	C	A	112014361	3	1	233	1	0	0	0	0	1	0	0	0	7645	593	21	5	45	5	IL18	11	112014361	Missense_Mutation	SNP	C	TCGA-HT-8108-01A-11D-2395-08	52184301	112014361	22992155	9	9769											
CADM1	23705	broad.mit.edu	37	chr11	115109342	115109342	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagttcactgctagaaaaaTtcagcaactgaaacctgctg	14	10	8	9	0	2	3	2	2	0	1	2	3	2	3	1	0	5	4	1	0	5	3			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr11:115109342T>C	uc001ppi.4	-	2	431	c.302A>G	c.(301-303)aAt>aGt	p.N101S	CADM1_uc001ppf.4_Missense_Mutation_p.N101S|CADM1_uc001ppk.4_Missense_Mutation_p.N101S|CADM1_uc001ppj.4_Missense_Mutation_p.N101S|CADM1_uc001ppl.3_Missense_Mutation_p.N101S	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	Homo sapiens cell adhesion molecule 1 (CADM1), transcript variant 1, mRNA.	101	Ig-like V-type.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		GCTAGAAAAATTCAGCAACTG	0.393													27	27					0	0	1	0	0	C	115109342	T	C	115109342	3	2	233	1	0	0	0	0	1	0	0	0	2566	1493	52	3	1058	3	CADM1	11	115109342	Missense_Mutation	SNP	T	TCGA-HT-8108-01A-11D-2395-08	3094981	115109342	19897174	10	9770											
KERA	11081	broad.mit.edu	37	chr12	91445220	91445220	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagacggaggtagcgaagaTgaggtccataactgaaggaa	15	5	14	7	2	0	4	0	2	0	2	1	7	1	6	2	4	2	1	2	4	5	2			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr12:91445220T>C	uc001tbl.3	-	2	1581	c.962A>G	c.(961-963)cAt>cGt	p.H321R		NM_007035	NP_008966	O60938	KERA_HUMAN	Homo sapiens keratocan (KERA), mRNA.	321					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GTAGCGAAGATGAGGTCCATA	0.438													12	28					0	0	1	0	0	C	91445220	T	C	91445220	3	2	233	1	0	0	0	0	1	0	0	0	8143	1464	51	3	100	3	KERA	12	91445220	Missense_Mutation	SNP	T	TCGA-HT-8108-01A-11D-2395-08		91445220	42406675	11	9771											
LRRC43	254050	broad.mit.edu	37	chr12	122684844	122684844	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccactgaaggccttcctgctGgcggggaccaccgtgaccat	7	7	12	15	2	0	2	0	2	0	0	1	3	1	3	6	4	1	1	6	4	1	1			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr12:122684844G>A	uc009zxm.3	+	7	1483	c.1458G>A	c.(1456-1458)ctG>ctA	p.L486L	LRRC43_uc001ubw.4_Silent_p.L301L|LRRC43_uc009zxn.3_Silent_p.L247L	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	486										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CCTTCCTGCTGGCGGGGACCA	0.627													6	108					0	0	1	0	0	A	122684844	G	A	122684844	2	1	233	1	0	0	0	0	0	0	0	1	9001	1335	47	3		3	LRRC43	12	122684844	Silent	SNP	G	TCGA-HT-8108-01A-11D-2395-08	31239624	122684844	11167051	12	9772											
CDK10	8558	broad.mit.edu	37	chr16	89755723	89755723	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcattggagagggtacctacGgcattgtgtgtgagtggcca	8	10	16	7	1	0	2	0	1	0	1	0	3	0	2	2	4	2	3	2	4	2	4			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr16:89755723G>A	uc010cio.3	+	1	194	c.151G>A	c.(151-153)Ggc>Agc	p.G51S	CDK10_uc002foa.2_Intron|CDK10_uc010cip.2_Intron|CDK10_uc010vpl.1_Intron|CDK10_uc002fob.2_Intron|CDK10_uc002fod.3_5'UTR|CDK10_uc002foe.3_5'UTR|CDK10_uc002fof.3_5'UTR|CDK10_uc002fog.4_Intron|CDK10_uc002foh.4_Intron	NM_052988	NP_001153839	Q15131	CDK10_HUMAN	Homo sapiens cyclin-dependent kinase 10 (CDK10), transcript variant a, mRNA.	51	Protein kinase.				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		GGGTACCTACGGCATTGTGTG	0.582													28	41					0	0	1	0	0	A	89755723	G	A	89755723	3	1	233	1	0	0	0	0	1	0	0	0	3125	1116	39	2	157	2	CDK10	16	89755723	Missense_Mutation	SNP	G	TCGA-HT-8108-01A-11D-2395-08		89755723	599030	13	9773											
TP53	7157	broad.mit.edu	37	chr17	7578471	7578471	+	Frame_Shift_Del	DEL	G	G	-																															atggcgcggacgcgggtgccGggcgggggtgtggaatcaac																								rs137852790		TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr17:7578471delG	uc002gim.2	-	4	653	c.459delC	c.(457-459)cccfs	p.P153fs	TP53_uc002gig.1_Frame_Shift_Del_p.P153fs|TP53_uc002gih.3_Frame_Shift_Del_p.P153fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.P21fs|TP53_uc010cnf.1_Frame_Shift_Del_p.P21fs|TP53_uc002gii.1_Frame_Shift_Del_p.P21fs|TP53_uc010cni.1_Frame_Shift_Del_p.P153fs|TP53_uc010cnh.1_Frame_Shift_Del_p.P153fs|TP53_uc002gij.2_Frame_Shift_Del_p.P153fs|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Frame_Shift_Del_p.P60fs|TP53_uc002gio.2_Frame_Shift_Del_p.P21fs|TP53_uc010vug.2_Frame_Shift_Del_p.P114fs	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	153	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P152L(63)|p.P152S(22)|p.P152fs*18(18)|p.P153P(14)|p.P153fs*28(11)|p.P152fs*14(10)|p.0?(8)|p.P153S(8)|p.P152T(7)|p.P152R(6)|p.T150fs*16(6)|p.P153L(6)|p.P152fs*29(5)|p.P152P(5)|p.?(5)|p.P152Q(4)|p.P153fs*26(4)|p.P153fs*22(4)|p.P152fs*28(3)|p.P153T(3)|p.P151_V173del23(2)|p.T150_P153delTPPP(2)|p.P152A(2)|p.D148_T155delDSTPPPGT(2)|p.P152fs*27(2)|p.Q144_G154del11(2)|p.G154fs*27(2)|p.P153_G154insX(2)|p.P153fs*16(1)|p.P152_P153del(1)|p.T57fs*16(1)|p.P153fs*20(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.P152_P153insXXX(1)|p.Q144fs*16(1)|p.P153F(1)|p.T18fs*16(1)|p.P153A(1)|p.P153H(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)		CGCGGGTGCCGGGCGGGGGTG	0.612		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)			70	28	---	---	---	---						-	7578471	G	-	7578471	7	5	233	1	0	1	0	1	0	0	0	0	16378	1103	39	0	839	0	TP53	17	7578471	Frame_Shift_Del	DEL	G	TCGA-HT-8108-01A-11D-2395-08		7578471	73616739	14	9774											
GNAL	2774	broad.mit.edu	37	chr18	11880999	11880999	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgcagaggatcagcacGgccaccggtgacggcaaaca	11	5	12	13	3	2	2	1	1	1	1	2	3	2	3	2	4	3	3	2	4	1	1			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr18:11880999G>A	uc002kqc.2	+	11	1669	c.1242G>A	c.(1240-1242)acG>acA	p.T414T	GNAL_uc002kqd.2_Silent_p.T337T|GNAL_uc010dkz.2_Silent_p.T337T|GNAL_uc010wzt.1_Silent_p.T130T	NM_182978	NP_892023	P38405	GNAL_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type (GNAL), transcript variant 1, mRNA.	337					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|adenylate cyclase activity|signal transducer activity	p.S413T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						GGATCAGCACGGCCACCGGTG	0.622													26	47					0	0	1	0	0	A	11880999	G	A	11880999	2	1	233	1	0	0	0	0	0	0	0	1	6507	1103	39	2		2	GNAL	18	11880999	Silent	SNP	G	TCGA-HT-8108-01A-11D-2395-08		11880999	66196249	15	9775											
OPHN1	4983	broad.mit.edu	37	chrX	67414334	67414334	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgttttgttatagggctgtGgtagatctacaaaagaagat	12	14	11	4	0	1	3	0	0	1	3	1	3	1	3	0	2	1	4	0	2	7	6			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:67414334G>C	uc004dww.4	-	12	1405	c.1111C>G	c.(1111-1113)Cac>Gac	p.H371D	OPHN1_uc011mpg.2_Missense_Mutation_p.H371D	NM_002547	NP_002538	O60890	OPHN1_HUMAN	Homo sapiens oligophrenin 1 (OPHN1), mRNA.	371					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						ATAGGGCTGTGGTAGATCTAC	0.348													19	25					0	0	1	0	0	C	67414334	G	C	67414334	3	2	233	1	0	0	0	0	1	0	0	0	10875	1348	47	5	1345	5	OPHN1	23	67414334	Missense_Mutation	SNP	G	TCGA-HT-8108-01A-11D-2395-08		67414334	87856226	16	9776											
RGAG4	340526	broad.mit.edu	37	chrX	71350844	71350844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccacccgctcggcgccccCggggaaatgaacctcatggt	7	5	13	16	4	1	1	1	1	0	0	2	2	1	2	5	5	1	1	5	5	2	0			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:71350844C>T	uc010nlh.2	-	0	547	c.547G>A	c.(547-549)Ggg>Agg	p.G183R	NHSL2_uc011mqa.2_Intron|RGAG4_uc004eaj.2_Missense_Mutation_p.G183R|NHSL2_uc004eak.1_5'Flank	NM_001024455	NP_001019626	Q5HYW3	RGAG4_HUMAN	Homo sapiens retrotransposon gag domain containing 4 (RGAG4), mRNA.	183										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					TCGGCGCCCCCGGGGAAATGA	0.582													4	69					0	0	1	0	0	T	71350844	C	T	71350844	3	4	233	1	0	0	0	0	1	0	0	0	13275	652	23	2	1166	2	RGAG4	23	71350844	Missense_Mutation	SNP	C	TCGA-HT-8108-01A-11D-2395-08	3936510	71350844	83919716	17	9777											
ATRX	546	broad.mit.edu	37	chrX	76813062	76813063	+	Frame_Shift_Ins	INS	-	-	AG																															tgctgatcaacaactcgaaaINSagacagtgactgcttagtta																										TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:76813062_76813063insAG	uc004ecp.4	-	29	6790_6791	c.6558_6559insCT	c.(6556-6561)tcttttfs	p.S2186fs	ATRX_uc004ecq.4_Frame_Shift_Ins_p.S2148fs|ATRX_uc004eco.4_Frame_Shift_Ins_p.S1971fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2186	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.L2185L(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ACAACTCGAAAAGACAGTGACT	0.347			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						65	100	---	---	---	---						AG	76813063	-	AG	76813062	7	5	233	1	0	1	1	0	0	0	0	0	1208	14	1	0	943	0	ATRX	23	76813062	Frame_Shift_Ins	INS	-	TCGA-HT-8108-01A-11D-2395-08	5462218	76813062	78457498	18	9778											
IRS4	8471	broad.mit.edu	37	chrX	107979043	107979043	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgttctcggccaccatcgCgaagtattcgtcttgggtga	6	12	11	12	5	2	1	0	1	2	0	6	2	2	1	2	2	0	2	2	2	2	4			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:107979043C>G	uc004eoc.2	-	0	565	c.532G>C	c.(532-534)Gcg>Ccg	p.A178P		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	178	PH.					plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GCCACCATCGCGAAGTATTCG	0.612													27	68					0	0	1	0	0	G	107979043	C	G	107979043	3	3	233	1	0	0	0	0	1	0	0	0	7842	768	27	5	3245	5	IRS4	23	107979043	Missense_Mutation	SNP	C	TCGA-HT-8108-01A-11D-2395-08	31165981	107979043	47291517	19	9779											
ODZ1	10178	broad.mit.edu	37	chrX	123518058	123518058	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccttattgtaggctttctgCagcaggccattagaattata	10	14	9	8	0	1	1	0	0	1	1	1	1	1	1	2	2	2	4	2	2	6	7			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:123518058C>T	uc010nqy.3	-	29	6787	c.6723G>A	c.(6721-6723)ctG>ctA	p.L2241L	ODZ1_uc011muj.2_Silent_p.L2240L|ODZ1_uc004euj.3_Silent_p.L2234L	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2234					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						AGGCTTTCTGCAGCAGGCCAT	0.458													47	65					0	0	1	0	0	T	123518058	C	T	123518058	2	4	233	1	0	0	0	0	0	0	0	1	10834	697	25	3		3	ODZ1	23	123518058	Silent	SNP	C	TCGA-HT-8108-01A-11D-2395-08	15539015	123518058	31752502	20	9780											
RENBP	5973	broad.mit.edu	37	chrX	153208518	153208518	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgatctgatccatcatcTccaccgcttccgtctggggg	6	10	11	14	3	4	1	1	1	3	0	7	3	6	2	4	3	0	1	4	3	0	1			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:153208518T>G	uc004fjo.2	-	5	646	c.476A>C	c.(475-477)gAg>gCg	p.E159A	RENBP_uc011mzh.1_Missense_Mutation_p.E159A	NM_002910	NP_002901	P51606	RENBP_HUMAN	Homo sapiens renin binding protein (RENBP), mRNA.	159					mannose metabolic process|regulation of blood pressure		N-acylglucosamine 2-epimerase activity|endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	ATCCATCATCTCCACCGCTTC	0.711													21	20					0	0	1	0	0	G	153208518	T	G	153208518	3	3	233	1	0	0	0	0	1	0	0	0	13225	1551	54	5	831	5	RENBP	23	153208518	Missense_Mutation	SNP	T	TCGA-HT-8108-01A-11D-2395-08	29690460	153208518	2062042	21	9781											
C1orf38	9473	broad.mit.edu	37	chr1	28209255	28209255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accctctgacctccttcctgGgcctgcggctggaggagaag	6	8	13	14	1	1	2	0	1	1	1	3	4	3	3	5	4	1	1	5	4	1	1			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:28209255G>A	uc001bpc.4	+	3	1448	c.1420G>A	c.(1420-1422)Ggc>Agc	p.G474S	C1orf38_uc001bpa.3_Intron|C1orf38_uc001boz.3_Intron|C1orf38_uc010ofn.2_Missense_Mutation_p.G278S|C1orf38_uc010ofo.2_Missense_Mutation_p.G345S	NM_001105556	NP_001099026	Q5TEJ8	THMS2_HUMAN	Homo sapiens chromosome 1 open reading frame 38 (C1orf38), transcript variant 3, mRNA.	474	CABIT 2.				cell adhesion|inflammatory response					endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;2.52e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCTTCCTGGGCCTGCGGCT	0.602													6	84					0	0	1	0	0	A	28209255	G	A	28209255	3	1	234	1	0	0	0	0	1	0	0	0	2039	1232	43	3	1434	3	C1orf38	1	28209255	Missense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08		28209255	221041366	1	9782											
KTI12	112970	broad.mit.edu	37	chr1	52498859	52498865	+	Frame_Shift_Del	DEL	GAATCCG	GAATCCG	-																															catgctttgcagatttctctGaatccggagtcacaagagct																								rs2783175	byFrequency	TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:52498859_52498865delGAATCCG	uc001ctj.1	-	0	608_614	c.569_575delCGGATTC	c.(568-576)ccggattcafs	p.P190fs	TXNDC12_uc001cti.3_Intron	NM_138417	NP_612426	Q96EK9	KTI12_HUMAN	Homo sapiens KTI12 homolog, chromatin associated (S. cerevisiae) (KTI12), mRNA.	190							ATP binding	p.D191E(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						AGATTTCTCTGAATCCGGAGTCACAAG	0.575													11	97	---	---	---	---						-	52498865	GAATCCG	-	52498859	7	5	234	1	0	1	0	1	0	0	0	0	8584	1294	45	0	493	0	KTI12	1	52498859	Frame_Shift_Del	DEL	GAATCCG	TCGA-HT-8109-01A-11D-2395-08	24289604	52498859	196751762	2	9783											
KCNA10	3744	broad.mit.edu	37	chr1	111060317	111060317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgccttcagtgtttgccCgaggatctgcagccccttgg	5	10	13	13	2	2	0	1	0	1	0	2	3	2	2	4	3	3	2	4	3	0	3			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:111060317C>T	uc001dzt.1	-	0	1481	c.1093G>A	c.(1093-1095)Ggg>Agg	p.G365R		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	365						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		AGTGTTTGCCCGAGGATCTGC	0.557													73	59					0	0	1	0	0	T	111060317	C	T	111060317	3	4	234	1	0	0	0	0	1	0	0	0	8002	652	23	2	446	2	KCNA10	1	111060317	Missense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08	58561458	111060317	138190304	3	9784											
DUSP27	92235	broad.mit.edu	37	chr1	167096396	167096396	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgctgatggggacacgacGtcagtactgagcacccagag	11	5	14	11	3	1	3	1	2	0	1	1	5	1	4	1	2	3	3	1	2	1	1			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:167096396G>A	uc001geb.1	+	4	2044	c.2028G>A	c.(2026-2028)acG>acA	p.T676T		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	676					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGGACACGACGTCAGTACTGA	0.637													5	45					0	0	1	0	0	A	167096396	G	A	167096396	2	1	234	1	0	0	0	0	0	0	0	1	4824	1132	40	1		1	DUSP27	1	167096396	Silent	SNP	G	TCGA-HT-8109-01A-11D-2395-08	56036079	167096396	82154225	4	9785											
PRG4	10216	broad.mit.edu	37	chr1	186276487	186276487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaccactaccaagtctgcaCccaccactcccaaggagcct	11	5	5	20	0	1	0	0	0	1	0	2	1	2	1	7	1	3	1	7	1	3	1			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:186276487C>T	uc001gru.4	+	6	1687	c.1636C>T	c.(1636-1638)Ccc>Tcc	p.P546S	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.P505S|PRG4_uc009wyl.3_Missense_Mutation_p.P453S|PRG4_uc009wym.3_Missense_Mutation_p.P412S|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	546	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.P546P(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CAAGTCTGCACCCACCACTCC	0.642													42	81					0	0	1	0	0	T	186276487	C	T	186276487	3	4	234	1	0	0	0	0	1	0	0	0	12481	507	18	3	1658	3	PRG4	1	186276487	Missense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08	19180091	186276487	62974134	5	9786											
ARID4B	51742	broad.mit.edu	37	chr1	235345238	235345244	+	Frame_Shift_Del	DEL	TCTTCAA	TCTTCAA	-																															cattgacctctactgtttttTcttcaatgggtttactatcg																										TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:235345238_235345244delTCTTCAA	uc021pks.1	-	19	3367_3373	c.2990_2996delTTGAAGA	c.(2989-2997)attgaagaafs	p.I997fs	ARID4B_uc001hwq.3_Frame_Shift_Del_p.I997fs|ARID4B_uc001hwr.3_Frame_Shift_Del_p.I911fs|ARID4B_uc001hws.4_Frame_Shift_Del_p.I911fs|RBM34_uc001hwp.3_Non-coding_Transcript|ARID4B_uc001hwt.4_Frame_Shift_Del_p.I678fs	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	997					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TACTGTTTTTTCTTCAATGGGTTTACT	0.444													53	84	---	---	---	---						-	235345244	TCTTCAA	-	235345238	7	5	234	1	0	1	0	1	0	0	0	0	920	1783	62	0	962	0	ARID4B	1	235345238	Frame_Shift_Del	DEL	TCTTCAA	TCGA-HT-8109-01A-11D-2395-08	49068751	235345238	13905383	6	9787											
OR13G1	441933	broad.mit.edu	37	chr1	247835570	247835570	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatgtatagctggaagcaggGcggatataggtgtagattac	13	10	14	4	1	0	1	0	0	0	1	0	3	0	3	0	4	3	4	0	4	8	6			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:247835570G>T	uc001idi.1	-	0	774	c.774C>A	c.(772-774)cgC>cgA	p.R258R		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGGAAGCAGGGCGGATATAGG	0.463													26	145					1.75199e-13	1.85504e-13	1	1	0	T	247835570	G	T	247835570	2	4	234	1	0	0	0	0	0	0	0	1	10942	1190	42	5		5	OR13G1	1	247835570	Silent	SNP	G	TCGA-HT-8109-01A-11D-2395-08	12490332	247835570	1415051	7	9788											
CYP26B1	56603	broad.mit.edu	37	chr2	72362274	72362274	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggccctgggtgctcaccCgccggtagccactgaagggc	6	5	14	16	2	1	1	1	1	0	0	1	1	1	1	5	4	2	2	5	4	2	1			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr2:72362274C>T	uc002sih.1	-	3	705	c.705_splice	c.e3+1	p.R235_splice	CYP26B1_uc010yra.1_Splice_Site_p.R218_splice|CYP26B1_uc010yrb.1_Splice_Site_p.R160_splice	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily B, polypeptide 1 (CYP26B1), mRNA.	235					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GGTGCTCACCCGCCGGTAGCC	0.637													4	55					0	0	1	0	0	T	72362274	C	T	72362274	5	4	234	1	0	0	0	0	0	0	1	0	4156	666	23	2	850	2	CYP26B1	2	72362274	Splice_Site	SNP	C	TCGA-HT-8109-01A-11D-2395-08		72362274	170837099	8	9789											
FBLN7	129804	broad.mit.edu	37	chr2	112944825	112944825	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaagacgcccatcacgctCttccgcatggccacagcctc	8	7	8	18	3	2	2	1	1	1	1	4	2	3	2	4	1	1	2	4	1	1	1			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr2:112944825C>T	uc002tho.1	+	7	1333	c.1062C>T	c.(1060-1062)ctC>ctT	p.L354L	FBLN7_uc010fki.1_Silent_p.L308L|FBLN7_uc010fkj.1_Silent_p.L220L	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	Homo sapiens fibulin 7 (FBLN7), transcript variant 1, mRNA.	354					cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CCATCACGCTCTTCCGCATGG	0.647													15	176					0	0	1	0	0	T	112944825	C	T	112944825	2	4	234	1	0	0	0	0	0	0	0	1	5701	900	32	3		3	FBLN7	2	112944825	Silent	SNP	C	TCGA-HT-8109-01A-11D-2395-08	40582551	112944825	130254548	9	9790											
ZNF804A	91752	broad.mit.edu	37	chr2	185802239	185802239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttaaatggacaatcaaatGcaacaatgatacattctggg	16	12	7	6	0	2	1	1	1	1	0	2	2	2	2	0	2	3	1	0	2	7	4			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr2:185802239G>A	uc002uph.3	+	3	2710	c.2116G>A	c.(2116-2118)Gca>Aca	p.A706T		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	706						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ACAATCAAATGCAACAATGAT	0.308													4	98					0	0	1	0	0	A	185802239	G	A	185802239	3	1	234	1	0	0	0	0	1	0	0	0	18167	1319	46	3	2130	3	ZNF804A	2	185802239	Missense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08	72857414	185802239	57397134	10	9791											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								26	74					0	0	1	0	0	T	209113112	C	T	209113112	3	4	234	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08	23310873	209113112	34086261	11	9792											
DNAH5	1767	broad.mit.edu	37	chr5	13919350	13919350	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcacatccgggcttttcaAttgttccaaaaggtagttaa	11	14	7	9	1	2	0	2	0	0	0	4	0	4	0	2	2	0	4	2	2	5	7			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr5:13919350A>G	uc003jfd.2	-	6	952	c.910T>C	c.(910-912)Ttg>Ctg	p.L304L	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	304	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGGCTTTTCAATTGTTCCAAA	0.507									Kartagener syndrome				28	218					0	0	1	0	0	G	13919350	A	G	13919350	2	3	234	1	0	0	0	0	0	0	0	1	4604	98	4	3		3	DNAH5	5	13919350	Silent	SNP	A	TCGA-HT-8109-01A-11D-2395-08		13919350	166995910	12	9793											
CWC27	10283	broad.mit.edu	37	chr5	64096085	64096085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctttgcagagcatgaaggGcaaaagcaaaagtagtcatg	15	9	11	6	0	2	2	1	1	1	1	2	2	2	2	0	1	3	5	0	1	6	3			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr5:64096085G>A	uc003jtn.1	+	7	899	c.680G>A	c.(679-681)gGc>gAc	p.G227D	CWC27_uc003jtl.3_Missense_Mutation_p.G227D|CWC27_uc003jtm.3_Missense_Mutation_p.G227D|CWC27_uc010iwt.1_Missense_Mutation_p.G227D	NM_005869	NP_005860	Q6UX04	CWC27_HUMAN	Homo sapiens CWC27 spliceosome-associated protein homolog (S. cerevisiae) (CWC27), mRNA.	227					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AGCATGAAGGGCAAAAGCAAA	0.358													4	94					0	0	1	0	0	A	64096085	G	A	64096085	3	1	234	1	0	0	0	0	1	0	0	0	4070	1203	42	3	710	3	CWC27	5	64096085	Missense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08	50176735	64096085	116819175	13	9794											
ATP6AP1L	92270	broad.mit.edu	37	chr5	81608458	81608458	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccaattacaacaagttgTccatccagagttggtttagt	12	14	7	8	0	0	1	0	0	0	1	2	1	2	1	3	1	3	3	3	1	6	6			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr5:81608458T>G	uc003khv.3	+	8	1485	c.160T>G	c.(160-162)Tcc>Gcc	p.S54A	ATP6AP1L_uc003khw.3_Missense_Mutation_p.S54A	NM_001017971	NP_001017971	Q52LC2	VAS1L_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal accessory protein 1-like (ATP6AP1L), mRNA.	54					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						CAACAAGTTGTCCATCCAGAG	0.413											OREG0016689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	213					0	0	1	0	0	G	81608458	T	G	81608458	3	3	234	1	0	0	0	0	1	0	0	0	1166	1667	58	5	170	5	ATP6AP1L	5	81608458	Missense_Mutation	SNP	T	TCGA-HT-8109-01A-11D-2395-08	17512373	81608458	99306802	14	9795											
HTR4	3360	broad.mit.edu	37	chr5	147889456	147889456	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttagctgtgacatagatgcgGtaataggccagcaccatgag	12	9	12	8	1	0	3	0	2	0	1	0	3	0	3	2	2	3	3	2	2	4	4			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr5:147889456G>T	uc021yfj.1	-	4	686	c.639C>A	c.(637-639)taC>taA	p.Y213*	HTR4_uc021yfg.1_Nonsense_Mutation_p.Y213*|HTR4_uc021yfh.1_Nonsense_Mutation_p.Y213*|HTR4_uc010jgu.1_Non-coding_Transcript|HTR4_uc021yfi.1_Nonsense_Mutation_p.Y213*|HTR4_uc011dby.1_Nonsense_Mutation_p.Y213*|HTR4_uc003lpn.3_Nonsense_Mutation_p.Y213*|HTR4_uc010jgv.3_Non-coding_Transcript|HTR4_uc021yfk.1_Nonsense_Mutation_p.Y213*	NM_001040173	NP_001035263	Q13639	5HT4R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA.	213					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CATAGATGCGGTAATAGGCCA	0.542													23	38					2.89027e-11	3.01593e-11	1	1	0	T	147889456	G	T	147889456	4	4	234	1	0	0	0	0	0	1	0	0	7449	1256	44	5	831	5	HTR4	5	147889456	Nonsense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08	66280998	147889456	33025804	15	9796											
ODZ2	57451	broad.mit.edu	37	chr5	167674102	167674102	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtgtcttgaagatggtcaAcctccaaagtgggggcttct	8	12	13	8	0	3	2	1	1	2	1	4	2	4	2	2	4	1	1	2	4	3	2			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr5:167674102A>G	uc010jjd.3	+	26	6131	c.6131A>G	c.(6130-6132)aAc>aGc	p.N2044S	ODZ2_uc003lzr.4_Missense_Mutation_p.N1814S|ODZ2_uc003lzt.4_Missense_Mutation_p.N1417S|ODZ2_uc010jje.3_Missense_Mutation_p.N1308S	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		AAGATGGTCAACCTCCAAAGT	0.522													61	119					0	0	1	0	0	G	167674102	A	G	167674102	3	3	234	1	0	0	0	0	1	0	0	0	10835	43	2	3	6237	3	ODZ2	5	167674102	Missense_Mutation	SNP	A	TCGA-HT-8109-01A-11D-2395-08	19784646	167674102	13241158	16	9797											
C6orf10	10665	broad.mit.edu	37	chr6	32261116	32261116	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagtacacctgcctcactcTtcttttcttggacctcttgt	5	17	5	14	0	6	0	2	0	4	0	6	1	6	1	3	1	2	1	3	1	1	6			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr6:32261116T>G	uc021yvt.1	-	22	1507	c.1334A>C	c.(1333-1335)aAg>aCg	p.K445T	C6orf10_uc011dpx.2_Missense_Mutation_p.K436T|C6orf10_uc021yvs.1_Missense_Mutation_p.K362T|C6orf10_uc011dpz.2_Missense_Mutation_p.K443T|C6orf10_uc021yvu.1_Missense_Mutation_p.K443T|C6orf10_uc021yvv.1_Missense_Mutation_p.K429T	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA.	445						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						TGCCTCACTCTTCTTTTCTTG	0.458													27	345					0	0	1	0	0	G	32261116	T	G	32261116	3	3	234	1	0	0	0	0	1	0	0	0	2317	1609	56	5	361	5	C6orf10	6	32261116	Missense_Mutation	SNP	T	TCGA-HT-8109-01A-11D-2395-08		32261116	138853951	17	9798											
FAM83B	222584	broad.mit.edu	37	chr6	54735129	54735129	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcactacaaggaatggtatCgagtagccattgatattctg	12	12	9	8	1	2	1	1	1	1	0	3	3	2	2	1	2	2	2	1	2	6	6			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr6:54735129C>T	uc003pck.3	+	1	201	c.85C>T	c.(85-87)Cga>Tga	p.R29*		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	29										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GGAATGGTATCGAGTAGCCAT	0.403													55	141					0	0	1	0	0	T	54735129	C	T	54735129	4	4	234	1	0	0	0	0	0	1	0	0	5634	876	31	2	87	2	FAM83B	6	54735129	Nonsense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08	22474013	54735129	116379938	18	9799											
TACC1	6867	broad.mit.edu	37	chr8	38678119	38678119	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcacgttaatgaaatcttaGaatcacccaagaaggcaaag	18	8	7	8	1	3	3	2	1	1	2	3	3	3	3	1	1	0	2	1	1	7	2			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr8:38678119G>C	uc010lwp.3	+	2	1736	c.1357G>C	c.(1357-1359)Gaa>Caa	p.E453Q	TACC1_uc011lby.1_Missense_Mutation_p.E258Q|TACC1_uc003xma.3_Intron|TACC1_uc003xmb.4_Missense_Mutation_p.E408Q|TACC1_uc003xlz.3_Missense_Mutation_p.E258Q|TACC1_uc003xmc.4_Missense_Mutation_p.E258Q|TACC1_uc011lbz.2_Missense_Mutation_p.E469Q|TACC1_uc003xme.1_Intron|TACC1_uc003xmd.1_Intron|TACC1_uc010lwo.1_Intron|TACC1_uc003xmf.4_Intron|TACC1_uc011lca.2_Missense_Mutation_p.E453Q|TACC1_uc011lcb.2_Missense_Mutation_p.E258Q|TACC1_uc011lcc.2_Missense_Mutation_p.E258Q|TACC1_uc011lcd.2_Non-coding_Transcript|TACC1_uc003xmh.4_Missense_Mutation_p.E258Q|TACC1_uc010lwq.3_Missense_Mutation_p.E258Q	NM_006283	NP_001139688	O75410	TACC1_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 1 (TACC1), transcript variant 1, mRNA.	453	SPAZ 2.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			TGAAATCTTAGAATCACCCAA	0.453													104	212					0	0	1	0	0	C	38678119	G	C	38678119	3	2	234	1	0	0	0	0	1	0	0	0	15498	943	33	5	1367	5	TACC1	8	38678119	Missense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08		38678119	107685903	19	9800											
KIF24	347240	broad.mit.edu	37	chr9	34257924	34257924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaggagtttccagatgtccGatttcgactggtaactgaag	11	11	12	7	2	0	3	0	1	0	2	3	6	2	4	2	2	1	2	2	2	2	3	rs144983593		TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr9:34257924G>A	uc003zua.4	-	10	1801	c.1681C>T	c.(1681-1683)Cgg>Tgg	p.R561W	KIF24_uc010mkb.3_Intron	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	Homo sapiens kinesin family member 24 (KIF24), mRNA.	561					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CCAGATGTCCGATTTCGACTG	0.398													112	56					0	0	1	0	0	A	34257924	G	A	34257924	3	1	234	1	0	0	0	0	1	0	0	0	8292	1057	37	2	2437	2	KIF24	9	34257924	Missense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08		34257924	106955507	20	9801											
FAM120A	23196	broad.mit.edu	37	chr9	96324505	96324505	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttaggcgtccaagaggagtTatttccaccccagtgattag	10	12	10	9	1	0	2	0	1	0	1	2	3	2	3	4	2	0	1	4	2	4	5			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr9:96324505T>A	uc004atw.3	+	16	2989	c.2964T>A	c.(2962-2964)gtT>gtA	p.V988V	FAM120A_uc004aty.3_Silent_p.V769V|FAM120A_uc004atz.3_Silent_p.V636V|FAM120A_uc010mrg.3_Silent_p.V255V|FAM120A_uc004aua.1_5'Flank	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	Homo sapiens family with sequence similarity 120A (FAM120A), mRNA.	988	RNA binding.					cytoplasm|plasma membrane	RNA binding	p.G987*(1)		endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CAAGAGGAGTTATTTCCACCC	0.368													18	46					0	0	1	0	0	A	96324505	T	A	96324505	2	1	234	1	0	0	0	0	0	0	0	1	5415	1741	61	5		5	FAM120A	9	96324505	Silent	SNP	T	TCGA-HT-8109-01A-11D-2395-08	62066581	96324505	44888926	21	9802											
RALGDS	5900	broad.mit.edu	37	chr9	136029281	136029281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcagtggaaacacgcctgcGctcataggggaactgctggc	9	6	15	11	2	1	0	1	0	0	0	1	2	1	2	1	5	4	3	1	5	3	1			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr9:136029281G>A	uc004ccw.3	-	6	1008	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C	RALGDS_uc011mcw.2_Intron|RALGDS_uc010nab.3_3'UTR|RALGDS_uc011mcx.2_Missense_Mutation_p.R226C|RALGDS_uc010nac.1_Missense_Mutation_p.R107C|RALGDS_uc004ccy.1_3'UTR	NM_021996	NP_068836	Q12967	GNDS_HUMAN	Homo sapiens globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (GBGT1), mRNA.	0	N-terminal Ras-GEF.				Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		ACACGCCTGCGCTCATAGGGG	0.602			T	CIITA	"PMBL, Hodgkin Lymphona, "								44	97					0	0	1	0	0	A	136029281	G	A	136029281	3	1	234	1	0	0	0	0	1	0	0	0	13016	1087	38	1		1	RALGDS	9	136029281	Missense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08	39704776	136029281	5184150	22	9803											
OGDHL	55753	broad.mit.edu	37	chr10	50953529	50953529	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctcattgtggccacgcCggcggtaacagacctgcagg	8	7	12	14	3	1	1	1	0	1	1	2	1	1	1	4	4	2	2	4	4	1	2			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr10:50953529C>T	uc009xog.3	-	10	1605	c.1571G>A	c.(1570-1572)cGg>cAg	p.R524Q	OGDHL_uc001jie.3_Missense_Mutation_p.R497Q|OGDHL_uc010qgt.2_Missense_Mutation_p.R440Q|OGDHL_uc010qgu.2_Missense_Mutation_p.R288Q|OGDHL_uc009xoh.2_Missense_Mutation_p.R288Q	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	497					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.V523V(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GTGGCCACGCCGGCGGTAACA	0.572													26	73					0	0	1	0	0	T	50953529	C	T	50953529	3	4	234	1	0	0	0	0	1	0	0	0	10840	652	23	2	1590	2	OGDHL	10	50953529	Missense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08		50953529	84581218	23	9804											
ADK	132	broad.mit.edu	37	chr10	76360239	76360239	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccaagggagagatgacactAtaatggctacaggtacatgt	14	8	11	8	0	0	2	0	1	0	1	0	4	0	3	1	3	2	2	1	3	5	4			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr10:76360239A>G	uc001jwi.3	+	8	959	c.865A>G	c.(865-867)Ata>Gta	p.I289V	ADK_uc010qlb.2_Missense_Mutation_p.I232V|ADK_uc001jwj.3_Missense_Mutation_p.I272V|ADK_uc010qlc.2_Missense_Mutation_p.I254V	NM_006721	NP_006712	P55263	ADK_HUMAN	Homo sapiens adenosine kinase (ADK), transcript variant 2, mRNA.	289				I -> N (in Ref. 1; AA sequence).	purine base metabolic process|purine ribonucleoside salvage	cytosol	ATP binding|adenosine kinase activity|metal ion binding|phosphotransferase activity, alcohol group as acceptor			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811)	AGATGACACTATAATGGCTAC	0.348													7	33					0	0	1	0	0	G	76360239	A	G	76360239	3	3	234	1	0	0	0	0	1	0	0	0	320	449	16	3	917	3	ADK	10	76360239	Missense_Mutation	SNP	A	TCGA-HT-8109-01A-11D-2395-08	25406710	76360239	59174508	24	9805											
LOXL4	84171	broad.mit.edu	37	chr10	100013489	100013489	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacaatacagctggctgagCgggcggtcctccaagtaggc	9	6	14	12	2	0	1	0	1	0	0	2	1	2	1	2	4	3	4	2	4	4	2			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr10:100013489C>T	uc001kpa.1	-	10	1807	c.1656G>A	c.(1654-1656)ccG>ccA	p.P552P		NM_032211	NP_115587	Q96JB6	LOXL4_HUMAN	Homo sapiens lysyl oxidase-like 4 (LOXL4), mRNA.	552	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GCTGGCTGAGCGGGCGGTCCT	0.627													23	49					0	0	1	0	0	T	100013489	C	T	100013489	2	4	234	1	0	0	0	0	0	0	0	1	8902	755	27	1		1	LOXL4	10	100013489	Silent	SNP	C	TCGA-HT-8109-01A-11D-2395-08	23653250	100013489	35521258	25	9806											
ADRBK1	156	broad.mit.edu	37	chr11	67046685	67046685	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagggtacctgctcttcCgagacttctgcctgaaccac	7	11	8	15	1	3	2	1	1	2	1	4	3	4	2	4	1	4	2	4	1	2	4			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr11:67046685C>G	uc009yrn.1	+	2	471	c.205C>G	c.(205-207)Cga>Gga	p.R69G		NM_001619	NP_001610	P25098	ARBK1_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 1 (ADRBK1), mRNA.	69	N-terminal.|RGS.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	ATP binding|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|alpha-2A adrenergic receptor binding|beta-adrenergic receptor kinase activity|signal transducer activity	p.R69R(2)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CCTGCTCTTCCGAGACTTCTG	0.592													6	71					0	0	1	0	0	G	67046685	C	G	67046685	3	3	234	1	0	0	0	0	1	0	0	0	343	644	23	5	215	5	ADRBK1	11	67046685	Missense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08		67046685	67959831	26	9807											
TAPBPL	55080	broad.mit.edu	37	chr12	6567822	6567822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttctccagcttcccctaaaGtacgactgagcttggcaaac	10	11	7	13	1	1	1	0	1	1	0	3	2	2	1	3	1	4	4	3	1	4	5			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr12:6567822G>A	uc001qog.4	+	4	1154	c.916G>A	c.(916-918)Gta>Ata	p.V306I	TAPBPL_uc001qoi.1_Non-coding_Transcript	NM_018009	NP_060479	Q9BX59	TPSNR_HUMAN	Homo sapiens TAP binding protein-like (TAPBPL), mRNA.	306	Ig-like C1-type.				antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane				endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						TTCCCCTAAAGTACGACTGAG	0.522													11	145					0	0	1	0	0	A	6567822	G	A	6567822	3	1	234	1	0	0	0	0	1	0	0	0	15550	1029	36	3	934	3	TAPBPL	12	6567822	Missense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08		6567822	127284073	27	9808											
ATF7IP	55729	broad.mit.edu	37	chr12	14634097	14634097	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttatgcaggctcctgctgtTcggcaggtcaatccccaaaa	9	10	10	12	1	1	0	1	0	0	0	4	0	3	0	3	3	2	6	3	3	4	2			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr12:14634097T>C	uc001rbw.3	+	12	3416	c.3258T>C	c.(3256-3258)gtT>gtC	p.V1086V	ATF7IP_uc001rbv.1_Silent_p.V1085V|ATF7IP_uc001rbx.3_Silent_p.V1085V|ATF7IP_uc001rby.4_Silent_p.V1086V|ATF7IP_uc001rca.3_Silent_p.V1086V	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	1086					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CTCCTGCTGTTCGGCAGGTCA	0.453													7	132					0	0	1	0	0	C	14634097	T	C	14634097	2	2	234	1	0	0	0	0	0	0	0	1	1087	1770	62	3		3	ATF7IP	12	14634097	Silent	SNP	T	TCGA-HT-8109-01A-11D-2395-08	8066275	14634097	119217798	28	9809											
DDIT3	1649	broad.mit.edu	37	chr12	57911132	57911132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaggtcctcataccaggCttccagctcccagctggaca	8	9	9	15	0	1	0	1	0	0	0	4	1	4	1	4	3	4	4	4	3	1	3			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr12:57911132C>T	uc009zpt.3	-	2	395	c.127G>A	c.(127-129)Gcc>Acc	p.A43T	MARS_uc001sof.1_Non-coding_Transcript|DDIT3_uc001soi.3_Missense_Mutation_p.A20T|DDIT3_uc021qzj.1_Missense_Mutation_p.A20T|DDIT3_uc021qzk.1_Missense_Mutation_p.A43T|DDIT3_uc021qzl.1_Missense_Mutation_p.A43T|DDIT3_uc009zps.3_Missense_Mutation_p.A43T	NM_001195053	NP_001181982	P35638	DDIT3_HUMAN	Homo sapiens DNA-damage-inducible transcript 3 (DDIT3), transcript variant 1, mRNA.	20					cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding		EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						TCATACCAGGCTTCCAGCTCC	0.493			T	FUS	liposarcoma								22	39					0	0	1	0	0	T	57911132	C	T	57911132	3	4	234	1	0	0	0	0	1	0	0	0	4330	797	28	3	459	3	DDIT3	12	57911132	Missense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08	43277035	57911132	75940763	29	9810											
FLT3	2322	broad.mit.edu	37	chr13	28609684	28609684	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccaagggaattgtatgcAcagcacttgaccaggaaccc	12	7	11	11	0	0	1	0	1	0	0	0	3	0	3	3	2	4	3	3	2	4	3			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr13:28609684A>G	uc001urw.3	-	11	1627	c.1545T>C	c.(1543-1545)tgT>tgC	p.C515C	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Silent_p.C515C	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	515					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	AATTGTATGCACAGCACTTGA	0.438			"Mis, O"		"AML, ALL"								18	153					0	0	1	0	0	G	28609684	A	G	28609684	2	3	234	1	0	0	0	0	0	0	0	1	5942	157	6	3		3	FLT3	13	28609684	Silent	SNP	A	TCGA-HT-8109-01A-11D-2395-08		28609684	86560194	30	9811											
FLT3	2322	broad.mit.edu	37	chr13	28611413	28611413	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctggtgcttatgattgcaAaacttggatatgctgtttga	9	15	12	5	0	0	2	0	2	0	0	0	3	0	3	0	3	4	5	0	3	4	5			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr13:28611413A>G	uc001urw.3	-	9	1300	c.1218T>C	c.(1216-1218)ttT>ttC	p.F406F	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Silent_p.F406F	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	406					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TATGATTGCAAAACTTGGATA	0.378			"Mis, O"		"AML, ALL"								9	75					0	0	1	0	0	G	28611413	A	G	28611413	2	3	234	1	0	0	0	0	0	0	0	1	5942	11	1	3		3	FLT3	13	28611413	Silent	SNP	A	TCGA-HT-8109-01A-11D-2395-08	1729	28611413	86558465	31	9812											
SDR39U1	56948	broad.mit.edu	37	chr14	24909494	24909494	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaaggtctgggcaaactcaGcattagtggcggaggatgga	11	7	15	8	1	2	0	1	0	1	0	2	3	2	3	1	6	2	2	1	6	3	1			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr14:24909494G>T	uc001wpm.3	-	5	709	c.677C>A	c.(676-678)gCt>gAt	p.A226D	KHNYN_uc010tpc.2_3'UTR|KHNYN_uc001wph.4_3'UTR|KHNYN_uc010alw.3_3'UTR|SDR39U1_uc001wpi.3_Missense_Mutation_p.A118D|AK056368_uc001wpo.1_5'Flank	NM_020195	NP_064580	Q9NRG7	D39U1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 39U, member 1 (SDR39U1), mRNA.	252							binding			NS(1)|central_nervous_system(1)|large_intestine(2)|pancreas(1)	5						GGCAAACTCAGCATTAGTGGC	0.617													21	37					4.96729e-08	5.03725e-08	1	1	0	T	24909494	G	T	24909494	3	4	234	1	0	0	0	0	1	0	0	0	13972	971	34	5	208	5	SDR39U1	14	24909494	Missense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08		24909494	82440046	32	9813											
C14orf49	161176	broad.mit.edu	37	chr14	95921888	95921890	+	In_Frame_Del	DEL	CTC	CTC	-																															cggagcaggccccgcagccgCtcctcctcctcctcccagag																										TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr14:95921888_95921890delCTC	uc001yei.4	-	4	976_978	c.961_963delGAG	c.(961-963)gagdel	p.E321del	C14orf49_uc010avi.3_In_Frame_Del_p.E321del|C14orf49_uc001yej.1_In_Frame_Del_p.E321del	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	321					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		CCCGCAGCCGCTCCTCCTCCTCC	0.616													7	238	---	---	---	---						-	95921890	CTC	-	95921888	7	5	234	1	0	1	0	1	0	0	0	0	1776	796	28	0	2016	0	C14orf49	14	95921888	In_Frame_Del	DEL	CTC	TCGA-HT-8109-01A-11D-2395-08	71012394	95921888	11427652	33	9814											
DUOX2	50506	broad.mit.edu	37	chr15	45398797	45398797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgtagcttcttgtgttctCggccccggaaataggccacc	6	13	10	12	2	2	0	0	0	2	0	3	1	2	1	4	3	1	3	4	3	3	6			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr15:45398797C>T	uc001zun.3	-	15	2077	c.1874G>A	c.(1873-1875)cGa>cAa	p.R625Q	DUOX2_uc010bea.3_Missense_Mutation_p.R625Q	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	625					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity	p.R625*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTTGTGTTCTCGGCCCCGGAA	0.557													31	165					0	0	1	0	0	T	45398797	C	T	45398797	3	4	234	1	0	0	0	0	1	0	0	0	4801	884	31	2	2848	2	DUOX2	15	45398797	Missense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08		45398797	57132595	34	9815											
HERC1	8925	broad.mit.edu	37	chr15	63972937	63972937	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgagaaactccaacacaCgtgccttcattacctctgtt	11	10	6	14	2	2	1	1	0	1	1	3	2	3	1	3	0	5	1	3	0	3	3			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr15:63972937C>T	uc002amp.3	-	34	6412	c.6264G>A	c.(6262-6264)acG>acA	p.T2088T		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.	2088	B30.2/SPRY.				protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase 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						CTCCAACACACGTGCCTTCAT	0.373													23	168					0	0	1	0	0	T	63972937	C	T	63972937	2	4	234	1	0	0	0	0	0	0	0	1	7057	523	19	1		1	HERC1	15	63972937	Silent	SNP	C	TCGA-HT-8109-01A-11D-2395-08	18574140	63972937	38558455	35	9816											
MYO9A	4649	broad.mit.edu	37	chr15	72190411	72190411	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattagaagactctgtattcAaagaaggaacaatctgatct	16	11	8	6	0	4	4	1	1	3	3	4	6	4	5	0	1	1	1	0	1	7	3			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr15:72190411A>T	uc002atl.4	-	24	4906	c.4433T>A	c.(4432-4434)tTg>tAg	p.L1478*	MYO9A_uc010biq.3_Nonsense_Mutation_p.L1098*|MYO9A_uc002atn.1_Nonsense_Mutation_p.L1459*|MYO9A_uc002atk.3_Nonsense_Mutation_p.L202*|MYO9A_uc002atm.1_Nonsense_Mutation_p.L202*	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1478	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTCTGTATTCAAAGAAGGAAC	0.393													10	114					0	0	1	0	0	T	72190411	A	T	72190411	4	4	234	1	0	0	0	0	0	1	0	0	10084	131	5	5	3285	5	MYO9A	15	72190411	Nonsense_Mutation	SNP	A	TCGA-HT-8109-01A-11D-2395-08	8217474	72190411	30340981	36	9817											
PALB2	79728	broad.mit.edu	37	chr16	23646265	23646265	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgttaacaatcgacaggctAgaagttggcaaaagtggttc	13	10	11	7	1	0	1	0	0	0	1	2	2	0	1	0	3	1	5	0	3	6	4			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr16:23646265A>G	uc002dlx.1	-	3	1802	c.1602T>C	c.(1600-1602)tcT>tcC	p.S534S		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA.	534					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TCGACAGGCTAGAAGTTGGCA	0.418			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks					5	127					0	0	1	0	0	G	23646265	A	G	23646265	2	3	234	1	0	0	0	0	0	0	0	1	11406	407	15	4		4	PALB2	16	23646265	Silent	SNP	A	TCGA-HT-8109-01A-11D-2395-08		23646265	66708488	37	9818											
GDPD1	284161	broad.mit.edu	37	chr17	57348316	57348316	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctaaaagaaccacacaccAtgtccagaagtcaaaagttt	17	7	7	10	0	1	2	1	0	0	2	2	2	2	2	3	1	1	2	3	1	6	2			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr17:57348316A>G	uc002ixk.2	+	7	873	c.730A>G	c.(730-732)Atg>Gtg	p.M244V	GDPD1_uc002ixj.3_Missense_Mutation_p.M244V|GDPD1_uc021uas.1_Missense_Mutation_p.M244V	NM_182569	NP_872375	Q8N9F7	GDPD1_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 1 (GDPD1), transcript variant 1, mRNA.	244	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					ACCACACACCATGTCCAGAAG	0.279													34	76					0	0	1	0	0	G	57348316	A	G	57348316	3	3	234	1	0	0	0	0	1	0	0	0	6323	217	8	3	760	3	GDPD1	17	57348316	Missense_Mutation	SNP	A	TCGA-HT-8109-01A-11D-2395-08		57348316	23846894	38	9819											
SMARCD2	6603	broad.mit.edu	37	chr17	61911645	61911645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccctcgtctgcgtgtgcactCccagcagccttgccaatcgg	5	9	10	17	3	1	0	0	0	1	0	4	0	2	0	4	1	5	2	4	1	1	1			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr17:61911645C>T	uc010deb.1	-	7	1282	c.965G>A	c.(964-966)gGa>gAa	p.G322E	SMARCD2_uc010wpt.1_Missense_Mutation_p.G274E|SMARCD2_uc010dea.1_Missense_Mutation_p.G247E	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 (SMARCD2), mRNA.	322	SWIB.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						CGTGTGCACTCCCAGCAGCCT	0.567											OREG0024642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	23					0	0	1	0	0	T	61911645	C	T	61911645	3	4	234	1	0	0	0	0	1	0	0	0	14778	855	30	3	654	3	SMARCD2	17	61911645	Missense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08	4563329	61911645	19283565	39	9820											
SMARCA4	6597	broad.mit.edu	37	chr19	11135091	11135091	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagggcgtgctgctgactGatggctccgagaaggacaag	10	6	15	10	2	0	3	0	2	0	1	1	5	1	4	2	3	2	3	2	3	3	0			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr19:11135091G>T	uc010dxp.3	+	21	3418	c.3058G>T	c.(3058-3060)Gat>Tat	p.D1020Y	SMARCA4_uc010dxo.3_Missense_Mutation_p.D1020Y|SMARCA4_uc002mqf.4_Missense_Mutation_p.D1020Y|SMARCA4_uc002mqg.1_Missense_Mutation_p.D1020Y|SMARCA4_uc010dxq.3_Missense_Mutation_p.D1020Y|SMARCA4_uc010dxr.3_Missense_Mutation_p.D1020Y|SMARCA4_uc002mqj.4_Missense_Mutation_p.D1020Y|SMARCA4_uc010dxs.3_Missense_Mutation_p.D1020Y|SMARCA4_uc010dxt.1_Missense_Mutation_p.D240Y|SMARCA4_uc002mqh.4_Missense_Mutation_p.D143Y|SMARCA4_uc002mqi.1_Missense_Mutation_p.D223Y	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	1020					chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCTGCTGACTGATGGCTCCGA	0.627			"F, N, Mis"		NSCLC								18	33					9.16793e-09	9.42987e-09	1	1	0	T	11135091	G	T	11135091	3	4	234	1	0	0	0	0	1	0	0	0	14770	1290	45	5	3136	5	SMARCA4	19	11135091	Missense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08		11135091	47993892	40	9821											
ZNF490	57474	broad.mit.edu	37	chr19	12692359	12692359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggtttctgttcagtgtgaGatctcatgtgcctattaagg	7	17	11	6	0	3	1	2	1	2	1	4	2	3	1	1	2	1	2	1	2	2	5			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr19:12692359G>A	uc002mtz.2	-	4	659	c.530C>T	c.(529-531)tCt>tTt	p.S177F		NM_020714	NP_065765	Q9ULM2	ZN490_HUMAN	Homo sapiens zinc finger protein 490 (ZNF490), mRNA.	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						TTCAGTGTGAGATCTCATGTG	0.443													72	131					0	0	1	0	0	A	12692359	G	A	12692359	3	1	234	1	0	0	0	0	1	0	0	0	17938	942	33	3	1063	3	ZNF490	19	12692359	Missense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08	1557268	12692359	46436624	41	9822											
IL27RA	9466	broad.mit.edu	37	chr19	14157294	14157294	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagcatcgctgggagcacGgagctactggtgacctggca	9	6	15	11	2	0	1	0	1	0	0	1	3	0	3	1	4	5	6	1	4	1	1			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr19:14157294G>A	uc002mxx.3	+	7	1428	c.1005G>A	c.(1003-1005)acG>acA	p.T335T		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA.	335	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CTGGGAGCACGGAGCTACTGG	0.627													14	203					0	0	1	0	0	A	14157294	G	A	14157294	2	1	234	1	0	0	0	0	0	0	0	1	7681	1103	39	2		2	IL27RA	19	14157294	Silent	SNP	G	TCGA-HT-8109-01A-11D-2395-08	1464935	14157294	44971689	42	9823											
ZNF681	148213	broad.mit.edu	37	chr19	23927189	23927189	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagggtttctctccagtaTgaattatcttatgtgtagta	9	18	9	5	0	2	1	0	1	2	0	4	1	3	1	1	1	0	5	1	1	7	7	rs145416258	byFrequency	TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr19:23927189T>C	uc002nrk.4	-	3	1305	c.1163A>G	c.(1162-1164)cAt>cGt	p.H388R	ZNF681_uc002nrl.4_Missense_Mutation_p.H319R|ZNF681_uc002nrj.4_Missense_Mutation_p.H319R	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CTCTCCAGTATGAATTATCTT	0.398													30	56					0	0	1	0	0	C	23927189	T	C	23927189	3	2	234	1	0	0	0	0	1	0	0	0	18085	1464	51	3	778	3	ZNF681	19	23927189	Missense_Mutation	SNP	T	TCGA-HT-8109-01A-11D-2395-08	9769895	23927189	35201794	43	9824											
ZNF229	7772	broad.mit.edu	37	chr19	44932761	44932761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttctcgccagtgtgcactCtcttatgactaaggagacct	8	12	9	12	1	2	2	0	1	2	1	4	3	2	2	2	1	1	2	2	1	2	3			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr19:44932761C>T	uc002oze.1	-	5	2629	c.2195G>A	c.(2194-2196)aGa>aAa	p.R732K	ZNF229_uc010ejk.1_Missense_Mutation_p.R386K|ZNF229_uc010ejl.1_Missense_Mutation_p.R726K	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	732					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AGTGTGCACTCTCTTATGACT	0.517													4	45					0	0	1	0	0	T	44932761	C	T	44932761	3	4	234	1	0	0	0	0	1	0	0	0	17779	913	32	3	286	3	ZNF229	19	44932761	Missense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08	21005572	44932761	14196222	44	9825											
IQGAP3	128239	broad.mit.edu	37	chr1	156499981	156499981	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agtcggcgtaggttccgcagGacgcgccgctgcttctctgc	4	9	14	14	6	1	0	0	0	1	0	4	1	2	1	2	3	2	5	2	3	1	3			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr1:156499981G>C	uc001fpf.3	-	33	4395	c.4320C>G	c.(4318-4320)gtC>gtG	p.V1440V		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	1440					small GTPase mediated signal transduction	intracellular	Ras GTPase activator activity|calmodulin binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGTTCCGCAGGACGCGCCGCT	0.647													6	11					0	0	1	0	0	C	156499981	G	C	156499981	2	2	235	1	0	0	0	0	0	0	0	1	7816	1161	41	5		5	IQGAP3	1	156499981	Silent	SNP	G	TCGA-HT-8110-01A-11D-2395-08		156499981	92750640	1	9826											
RXRG	6258	broad.mit.edu	37	chr1	165389159	165389159	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtttaaccagagatccgggGctggtggatgggtagttcat	8	12	15	6	1	1	1	1	0	0	1	2	3	2	2	2	5	1	4	2	5	2	4			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr1:165389159G>A	uc001gda.3	-	2	852	c.390C>T	c.(388-390)agC>agT	p.S130S	RXRG_uc021pea.1_Silent_p.S7S	NM_006917	NP_008848	P48443	RXRG_HUMAN	Homo sapiens retinoid X receptor, gamma (RXRG), transcript variant 1, mRNA.	130	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GAGATCCGGGGCTGGTGGATG	0.522													12	37					0	0	1	0	0	A	165389159	G	A	165389159	2	1	235	1	0	0	0	0	0	0	0	1	13765	1194	42	3		3	RXRG	1	165389159	Silent	SNP	G	TCGA-HT-8110-01A-11D-2395-08	8889178	165389159	83861462	2	9827											
H3F3B	3021	broad.mit.edu	37	chr1	226252059	226252059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggtctctgtaccatggctCgtacaaagcagactgcccgc	9	8	11	13	2	1	1	0	0	1	1	3	2	1	1	2	2	4	4	2	2	3	2			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr1:226252059C>T	uc001hpw.3	+	1	135	c.7C>T	c.(7-9)Cgt>Tgt	p.R3C	H3F3B_uc010pvl.2_Missense_Mutation_p.R3C|H3F3B_uc021pjv.1_Missense_Mutation_p.R3C	NM_005324	NP_005315	P84243	H33_HUMAN	Homo sapiens H3 histone, family 3B (H3.3B) (H3F3B), mRNA.	3					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding	p.R3C(1)		large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TACCATGGCTCGTACAAAGCA	0.498											OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	18					0	0	1	0	0	T	226252059	C	T	226252059	3	4	235	1	0	0	0	0	1	0	0	0	6934	884	31	2		2	H3F3B	1	226252059	Missense_Mutation	SNP	C	TCGA-HT-8110-01A-11D-2395-08	60862900	226252059	22998562	3	9828											
OBSCN	84033	broad.mit.edu	37	chr1	228461596	228461596	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccacggtgacctggctcaagGatggtgtggagattcgccgc	7	8	15	11	3	1	2	1	1	0	1	2	4	1	3	3	5	0	1	3	5	1	1			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr1:228461596G>A	uc009xez.1	+	17	5307	c.5263G>A	c.(5263-5265)Gat>Aat	p.D1755N	OBSCN_uc001hsn.3_Missense_Mutation_p.D1755N	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1755	Fibronectin type-III 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGGCTCAAGGATGGTGTGGA	0.647													8	9					0	0	1	0	0	A	228461596	G	A	228461596	3	1	235	1	0	0	0	0	1	0	0	0	10812	1174	41	3	5329	3	OBSCN	1	228461596	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08	2209537	228461596	20789025	4	9829											
HEATR1	55127	broad.mit.edu	37	chr1	236744701	236744701	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgaataactgaaaaacaTcttctagatgcacctaatta	17	12	4	8	0	2	3	0	2	2	1	2	3	2	3	1	0	3	1	1	0	7	6			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr1:236744701T>A	uc001hyd.2	-	19	2728	c.2576A>T	c.(2575-2577)gAt>gTt	p.D859V	HEATR1_uc009xgh.2_Missense_Mutation_p.D102V	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	859					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTGAAAAACATCTTCTAGATG	0.328													9	39					0	0	1	0	0	A	236744701	T	A	236744701	3	1	235	1	0	0	0	0	1	0	0	0	7027	1435	50	5	3962	5	HEATR1	1	236744701	Missense_Mutation	SNP	T	TCGA-HT-8110-01A-11D-2395-08	8283105	236744701	12505920	5	9830											
SRBD1	55133	broad.mit.edu	37	chr2	45620175	45620175	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaatctttctgcaattttCtccattccttccttttcaag	7	19	3	12	0	4	0	1	0	3	0	7	0	6	0	3	0	2	2	3	0	3	7			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr2:45620175C>T	uc002rus.3	-	19	2683	c.2607G>A	c.(2605-2607)gaG>gaA	p.E869E	SRBD1_uc010yoc.2_Silent_p.E388E	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	869					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		RNA binding|hydrolase activity, acting on ester bonds			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			CTGCAATTTTCTCCATTCCTT	0.403													26	40					0	0	1	0	0	T	45620175	C	T	45620175	2	4	235	1	0	0	0	0	0	0	0	1	15132	912	32	3		3	SRBD1	2	45620175	Silent	SNP	C	TCGA-HT-8110-01A-11D-2395-08		45620175	197579198	6	9831											
PDK1	5163	broad.mit.edu	37	chr2	173431601	173431601	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagatggctatgaaaatgctAggcgtctgtgtgatttgtat	10	15	12	4	1	1	3	0	2	1	1	1	3	1	3	0	2	1	3	0	2	6	5	rs148646668		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr2:173431601A>T	uc002uhs.3	+	5	809	c.709A>T	c.(709-711)Agg>Tgg	p.R237W	PDK1_uc010zdz.1_Missense_Mutation_p.R82W|PDK1_uc010zea.1_Non-coding_Transcript|PDK1_uc002uhq.1_Missense_Mutation_p.R257W|PDK1_uc010zeb.2_Missense_Mutation_p.R257W	NM_002610	NP_002601	Q15118	PDK1_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 1 (PDK1), nuclear gene encoding mitochondrial protein, mRNA.	237	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			TGAAAATGCTAGGCGTCTGTG	0.323									Autosomal Dominant Polycystic Kidney Disease				3	16					0	0	1	0	0	T	173431601	A	T	173431601	3	4	235	1	0	0	0	0	1	0	0	0	11675	411	15	5	731	5	PDK1	2	173431601	Missense_Mutation	SNP	A	TCGA-HT-8110-01A-11D-2395-08	127811426	173431601	69767772	7	9832											
TTN	7273	broad.mit.edu	37	chr2	179443857	179443857	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctttatggagatagttcCttccttggtgccagcaacat	10	13	8	10	0	0	1	0	0	0	1	2	2	2	1	4	2	4	2	4	2	4	6			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr2:179443857C>G	uc021vsy.1	-	268	60421	c.60196G>C	c.(60196-60198)Gga>Cga	p.G20066R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G13761R|TTN_uc021vta.1_Missense_Mutation_p.G13694R|TTN_uc021vtb.1_Missense_Mutation_p.G13569R|AX746670_uc002umv.1_Missense_Mutation_p.P28R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20993	Fibronectin type-III 45.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGATAGTTCCTTCCTTGGTG	0.443													11	34					0	0	1	0	0	G	179443857	C	G	179443857	3	3	235	1	0	0	0	0	1	0	0	0	16732	690	24	5	40251	5	TTN	2	179443857	Missense_Mutation	SNP	C	TCGA-HT-8110-01A-11D-2395-08	6012256	179443857	63755516	8	9833											
CCBP2	1238	broad.mit.edu	37	chr3	42907140	42907140	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggaggatgtggggaataaAtcagcctgagtgaccaaatt	15	8	13	5	0	1	2	1	2	0	0	1	5	1	5	2	4	1	0	2	4	5	2			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr3:42907140A>G	uc003cme.3	+	2	1324	c.1146A>G	c.(1144-1146)aaA>aaG	p.K382K	CCBP2_uc003cmf.3_Silent_p.K382K|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Silent_p.K382K	NM_001296	NP_001287	O00590	CCBP2_HUMAN	Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.	382					chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.241)		TGGGGAATAAATCAGCCTGAG	0.502													14	24					0	0	1	0	0	G	42907140	A	G	42907140	2	3	235	1	0	0	0	0	0	0	0	1	2734	98	4	3		3	CCBP2	3	42907140	Silent	SNP	A	TCGA-HT-8110-01A-11D-2395-08		42907140	155115290	9	9834											
IMPDH2	3615	broad.mit.edu	37	chr3	49065256	49065256	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtgattgggataccgcAgaaaccatgccgggccttgg	8	9	14	10	2	1	2	0	1	1	1	1	3	1	3	4	3	3	1	4	3	2	3			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr3:49065256A>T	uc003cvt.3	-	4	510	c.418T>A	c.(418-420)Tgc>Agc	p.C140S		NM_000884	NP_000875	P12268	IMDH2_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 2 (IMPDH2), mRNA.	140	CBS 1.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding	p.C140C(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	GGGATACCGCAGAAACCATGC	0.542													15	43					0	0	1	0	0	T	49065256	A	T	49065256	3	4	235	1	0	0	0	0	1	0	0	0	7727	188	7	5	1166	5	IMPDH2	3	49065256	Missense_Mutation	SNP	A	TCGA-HT-8110-01A-11D-2395-08	6158116	49065256	148957174	10	9835											
FAIM	55179	broad.mit.edu	37	chr3	138341217	138341217	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaaaaaccaccaatacttGggtattacacatggatggtg	15	10	8	8	0	1	0	1	0	0	0	1	1	1	1	2	3	3	1	2	3	6	4			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr3:138341217G>A	uc003esr.3	+	2	559	c.299G>A	c.(298-300)tGg>tAg	p.W100*	FAIM_uc003eso.1_Nonsense_Mutation_p.W134*|FAIM_uc003esq.3_Nonsense_Mutation_p.W122*|FAIM_uc003esp.3_Nonsense_Mutation_p.W134*|FAIM_uc003ess.3_Nonsense_Mutation_p.W100*	NM_001033032	NP_060617	Q9NVQ4	FAIM1_HUMAN	Homo sapiens Fas apoptotic inhibitory molecule (FAIM), transcript variant 3, mRNA.	100					apoptosis	cytoplasm				kidney(1)|upper_aerodigestive_tract(1)	2						ACCAATACTTGGGTATTACAC	0.333													14	24					0	0	1	0	0	A	138341217	G	A	138341217	4	1	235	1	0	0	0	0	0	1	0	0	5375	1357	47	3	459	3	FAIM	3	138341217	Nonsense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08	89275961	138341217	59681213	11	9836											
SEL1L3	23231	broad.mit.edu	37	chr4	25835187	25835188	+	Frame_Shift_Del	DEL	TA	TA	-																															ataaagccacaatgaaacagTaaacctataagagtgagggg																										TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr4:25835187_25835188delTA	uc003gru.4	-	3	1016_1017	c.864_865delTA	c.(862-867)tttactfs	p.F288fs		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	288						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						AATGAAACAGTAAACCTATAAG	0.376													2	4	---	---	---	---						-	25835188	TA	-	25835187	7	5	235	1	0	1	0	1	0	0	0	0	14012	1638	57	0	2617	0	SEL1L3	4	25835187	Frame_Shift_Del	DEL	TA	TCGA-HT-8110-01A-11D-2395-08		25835187	165319089	12	9837											
HHIP	64399	broad.mit.edu	37	chr4	145636526	145636526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actctgtctcggcactagtgGgtcctgtagaggctactttt	6	14	11	10	1	2	1	0	0	2	1	4	1	3	1	1	3	1	3	1	3	3	5			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr4:145636526G>A	uc003ijs.2	+	9	2302	c.1622G>A	c.(1621-1623)gGg>gAg	p.G541E		NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	541						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GGCACTAGTGGGTCCTGTAGA	0.428													15	33					0	0	1	0	0	A	145636526	G	A	145636526	3	1	235	1	0	0	0	0	1	0	0	0	7092	1232	43	3	1660	3	HHIP	4	145636526	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08	119801339	145636526	45517750	13	9838											
RNF175	285533	broad.mit.edu	37	chr4	154636798	154636798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataagctccttgtaggcaacCggctgacactgtagaactat	12	10	9	10	1	0	2	0	1	0	1	1	2	1	2	2	2	3	5	2	2	6	5			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr4:154636798C>T	uc003int.3	-	6	1020	c.647G>A	c.(646-648)cGg>cAg	p.R216Q	RNF175_uc003inu.1_Missense_Mutation_p.R88Q	NM_173662	NP_775933	Q8N4F7	RN175_HUMAN	Homo sapiens ring finger protein 175 (RNF175), mRNA.	216						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				TGTAGGCAACCGGCTGACACT	0.502													10	18					0	0	1	0	0	T	154636798	C	T	154636798	3	4	235	1	0	0	0	0	1	0	0	0	13463	652	23	2	351	2	RNF175	4	154636798	Missense_Mutation	SNP	C	TCGA-HT-8110-01A-11D-2395-08	9000272	154636798	36517478	14	9839											
PRDM9	56979	broad.mit.edu	37	chr5	23522989	23522989	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccaacaatggatactccTggctggtaagaagagcctgc	12	7	11	11	0	0	2	0	0	0	2	1	3	1	3	3	3	5	2	3	3	5	2			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr5:23522989T>A	uc003jgo.3	+	7	1059	c.877T>A	c.(877-879)Tgg>Agg	p.W293R		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	293	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGGATACTCCTGGCTGGTAAG	0.493										HNSCC(3;0.000094)			19	48					0	0	1	0	0	A	23522989	T	A	23522989	3	1	235	1	0	0	0	0	1	0	0	0	12463	1580	55	5	903	5	PRDM9	5	23522989	Missense_Mutation	SNP	T	TCGA-HT-8110-01A-11D-2395-08		23522989	157392271	15	9840											
PRICKLE4	29964	broad.mit.edu	37	chr6	41753227	41753227	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgatggacaactctactgCggccgtcatcatgcagagtt	10	10	10	11	2	3	2	2	1	1	1	3	3	3	3	1	2	4	2	1	2	2	2			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr6:41753227C>T	uc011duf.1	+	5	779	c.531C>T	c.(529-531)tgC>tgT	p.C177C	PRICKLE4_uc003ord.2_Non-coding_Transcript|TOMM6_uc003org.3_5'Flank|TOMM6_uc011dug.1_5'Flank	NM_013397	NP_037529	Q2TBC4	PRIC4_HUMAN	Homo sapiens prickle homolog 4 (Drosophila) (PRICKLE4), mRNA.	137	LIM zinc-binding 2.					nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AACTCTACTGCGGCCGTCATC	0.622													18	46					0	0	1	0	0	T	41753227	C	T	41753227	2	4	235	1	0	0	0	0	0	0	0	1	12489	776	27	1		1	PRICKLE4	6	41753227	Silent	SNP	C	TCGA-HT-8110-01A-11D-2395-08		41753227	129361840	16	9841											
KIAA1244	57221	broad.mit.edu	37	chr6	138601169	138601169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggtgcagaccagcggcGtgctgatggtcttctctcag	7	9	14	11	2	3	2	1	1	2	1	4	2	3	2	1	3	4	3	1	3	0	1			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr6:138601169G>A	uc003qhu.3	+	13	2500	c.2329G>A	c.(2329-2331)Gtg>Atg	p.V777M		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	777	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GACCAGCGGCGTGCTGATGGT	0.547													17	26					0	0	1	0	0	A	138601169	G	A	138601169	3	1	235	1	0	0	0	0	1	0	0	0	8217	1145	40	1	2383	1	KIAA1244	6	138601169	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08	96847942	138601169	32513898	17	9842											
CDCA7L	55536	broad.mit.edu	37	chr7	21956473	21956473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccaacaaactcttcatcatCactgggggcgttaaagatgt	12	10	9	10	1	4	1	3	0	1	1	4	1	4	1	1	2	2	1	1	2	4	2			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr7:21956473C>T	uc010kuk.3	-	1	184	c.64G>A	c.(64-66)Gat>Aat	p.D22N	CDCA7L_uc003sve.4_5'UTR|CDCA7L_uc010kul.3_Missense_Mutation_p.D22N|CDCA7L_uc003svf.4_Missense_Mutation_p.D22N	NM_018719	NP_001120842	Q96GN5	CDA7L_HUMAN	Homo sapiens cell division cycle associated 7-like (CDCA7L), transcript variant 1, mRNA.	22					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TCTTCATCATCACTGGGGGCG	0.463													30	130					0	0	1	0	0	T	21956473	C	T	21956473	3	4	235	1	0	0	0	0	1	0	0	0	3091	826	29	3	1336	3	CDCA7L	7	21956473	Missense_Mutation	SNP	C	TCGA-HT-8110-01A-11D-2395-08		21956473	137182190	18	9843											
EGFR	1956	broad.mit.edu	37	chr7	55211080	55211080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaaacctgcagatcatcaGaggaaatatgtactacgaaa	18	7	9	7	1	2	2	2	0	0	2	2	5	2	4	1	2	4	2	1	2	7	3			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr7:55211080G>A	uc003tqk.3	+	2	569	c.323G>A	c.(322-324)aGa>aAa	p.R108K	EGFR_uc003tqh.3_Missense_Mutation_p.R108K|EGFR_uc003tqi.3_Missense_Mutation_p.R108K|EGFR_uc003tqj.3_Missense_Mutation_p.R108K|EGFR_uc022adm.1_Missense_Mutation_p.R108K|EGFR_uc010kzg.2_Missense_Mutation_p.R108K|EGFR_uc022adn.1_Missense_Mutation_p.R108K|EGFR_uc011kco.2_Missense_Mutation_p.R55K	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	108					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R108K(13)|p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGATCATCAGAGGAAATATG	0.423		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			692	44					0	0	1	0	0	A	55211080	G	A	55211080	3	1	235	1	0	0	0	0	1	0	0	0	4967	942	33	3	333	3	EGFR	7	55211080	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08	33254607	55211080	103927583	19	9844											
CALN1	83698	broad.mit.edu	37	chr7	71571179	71571179	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgatggccagctccacctcGcttggcatgtaccccaaaga	10	8	9	14	1	0	2	0	1	0	1	2	2	1	2	5	2	2	4	5	2	2	2	rs139754746		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr7:71571179G>A	uc003twb.4	-	3	736	c.345C>T	c.(343-345)agC>agT	p.S115S	CALN1_uc003twa.4_Silent_p.S73S|CALN1_uc003twc.4_Silent_p.S73S	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	73						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GCTCCACCTCGCTTGGCATGT	0.592													10	33					0	0	1	0	0	A	71571179	G	A	71571179	2	1	235	1	0	0	0	0	0	0	0	1	2591	1078	38	1		1	CALN1	7	71571179	Silent	SNP	G	TCGA-HT-8110-01A-11D-2395-08	16360099	71571179	87567484	20	9845											
LEP	3952	broad.mit.edu	37	chr7	127892092	127892092	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgcattggggaaccctgtgCggattcttgtggctttggcc	5	13	14	9	1	1	0	0	0	1	0	1	2	1	2	2	5	3	2	2	5	1	4			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr7:127892092C>T	uc003vml.2	+	1	78	c.21C>T	c.(19-21)tgC>tgT	p.C7C	LEP_uc003vmm.2_Silent_p.C7C	NM_000230	NP_000221	P41159	LEP_HUMAN	Homo sapiens leptin (LEP), mRNA.	7					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space				endometrium(1)|large_intestine(2)|lung(5)	8						GAACCCTGTGCGGATTCTTGT	0.488													19	87					0	0	1	0	0	T	127892092	C	T	127892092	2	4	235	1	0	0	0	0	0	0	0	1	8727	776	27	1		1	LEP	7	127892092	Silent	SNP	C	TCGA-HT-8110-01A-11D-2395-08	56320913	127892092	31246571	21	9846											
B4GALT1	2683	broad.mit.edu	37	chr9	33135343	33135343	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgggggcatagcggccGcccatcttcacatttgggtt	5	11	12	13	2	2	0	1	0	1	0	3	0	3	0	3	4	1	2	3	4	1	4			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr9:33135343G>A	uc003zsg.2	-	1	681	c.492C>T	c.(490-492)ggC>ggT	p.G164G		NM_001497	NP_001488	P15291	B4GT1_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 (B4GALT1), mRNA.	164					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|Golgi trans cisterna|basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|integral to membrane	N-acetyllactosamine synthase activity|alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|protein binding|protein homodimerization activity			endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	CATAGCGGCCGCCCATCTTCA	0.557													12	32					0	0	1	0	0	A	33135343	G	A	33135343	2	1	235	1	0	0	0	0	0	0	0	1	1270	1074	38	1		1	B4GALT1	9	33135343	Silent	SNP	G	TCGA-HT-8110-01A-11D-2395-08		33135343	108078088	22	9847											
FAM75C1	441452	broad.mit.edu	37	chr9	90535986	90535986	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagtagcttgccctgcgtcGcagaataaagtgcaagctct	10	9	12	10	2	1	1	0	0	1	1	2	2	1	2	1	1	5	5	1	1	5	3			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr9:90535986G>A	uc010mqi.3	+	3	1193	c.1164G>A	c.(1162-1164)tcG>tcA	p.S388S	FAM75C1_uc004apq.4_Silent_p.S371S	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		GCCCTGCGTCGCAGAATAAAG	0.517													52	158					0	0	1	0	0	A	90535986	G	A	90535986	2	1	235	1	0	0	0	0	0	0	0	1	5623	1074	38	1		1	FAM75C1	9	90535986	Silent	SNP	G	TCGA-HT-8110-01A-11D-2395-08	57400643	90535986	50677445	23	9848											
C5	727	broad.mit.edu	37	chr9	123812513	123812513	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attaaaaaacaaagtattccCaaaaggcccatggttggagg	17	8	9	7	0	0	0	0	0	0	0	1	1	1	1	2	4	1	2	2	4	7	4	rs35352264	byFrequency	TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr9:123812513C>T	uc004bkv.3	-	0	42	c.12G>A	c.(10-12)ttG>ttA	p.L4L	C5_uc010mvm.1_Silent_p.L4L|C5_uc010mvn.1_Silent_p.L4L	NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	4					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	AAAGTATTCCCAAAAGGCCCA	0.373													19	44					0	0	1	0	0	T	123812513	C	T	123812513	2	4	235	1	0	0	0	0	0	0	0	1	2280	593	21	3		3	C5	9	123812513	Silent	SNP	C	TCGA-HT-8110-01A-11D-2395-08	33276527	123812513	17400918	24	9849											
RABEPK	10244	broad.mit.edu	37	chr9	127996226	127996226	+	Frame_Shift_Del	DEL	C	C	-																															atgaatacagaaggggaaatCtatgacgattgtattgtgac																										TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr9:127996226delC	uc004bpi.3	+	8	1255	c.1086delC	c.(1084-1086)atcfs	p.I362fs	RABEPK_uc004bpj.3_Frame_Shift_Del_p.I311fs|RABEPK_uc004bpk.3_Frame_Shift_Del_p.I362fs	NM_001174152	NP_005824	Q7Z6M1	RABEK_HUMAN	Homo sapiens Rab9 effector protein with kelch motifs (RABEPK), transcript variant 2, mRNA.	362					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						AAGGGGAAATCTATGACGATT	0.388													32	90	---	---	---	---						-	127996226	C	-	127996226	7	5	235	1	0	1	0	1	0	0	0	0	12963	903	32	0	1112	0	RABEPK	9	127996226	Frame_Shift_Del	DEL	C	TCGA-HT-8110-01A-11D-2395-08	4183713	127996226	13217205	25	9850											
PTEN	5728	broad.mit.edu	37	chr10	89624228	89624228	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccacaggctcccagacaTgacagccatcatcaaagaga	15	4	8	14	0	2	3	2	1	0	2	3	4	3	3	3	1	2	1	3	1	1	0			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr10:89624228T>A	uc001kfb.3	+	0	1034	c.2T>A	c.(1-3)aTg>aAg	p.M1K	PTEN_uc021pvw.1_Non-coding_Transcript|KLLN_uc009xti.3_5'Flank	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	1					T cell receptor signaling pathway|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 G1/S transition of mitotic cell cycle|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 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	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion 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.0?(37)|p.?(13)|p.M1_?del fs(8)|p.M1fs*7(2)|p.M1T(2)|p.M1fs*24(2)		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)		CTCCCAGACATGACAGCCATC	0.507		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)			11	19					0	0	1	0	0	A	89624228	T	A	89624228	3	1	235	1	0	0	0	0	1	0	0	0	12738	1464	51	5	4	5	PTEN	10	89624228	Missense_Mutation	SNP	T	TCGA-HT-8110-01A-11D-2395-08		89624228	45910519	26	9851											
PLCE1	51196	broad.mit.edu	37	chr10	96053387	96053387	+	Frame_Shift_Del	DEL	T	T	-																															cagcatcatttaacaaaacaTctggaaaaagtaaagtcact																										TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr10:96053387delT	uc001kjk.3	+	22	5792	c.5158delT	c.(5158-5160)tctfs	p.S1720fs	PLCE1_uc010qnx.2_Frame_Shift_Del_p.S1704fs|PLCE1_uc001kjm.3_Frame_Shift_Del_p.S1412fs|PLCE1_uc001kjp.3_Frame_Shift_Del_p.S78fs	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1720	Required for activation by RHOA, RHOB, GNA12, GNA13 and G-beta gamma (By similarity).				Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TAACAAAACATCTGGAAAAAG	0.388													11	25	---	---	---	---						-	96053387	T	-	96053387	7	5	235	1	0	1	0	1	0	0	0	0	12034	1435	50	0	5530	0	PLCE1	10	96053387	Frame_Shift_Del	DEL	T	TCGA-HT-8110-01A-11D-2395-08	6429159	96053387	39481360	27	9852											
IFITM1	8519	broad.mit.edu	37	chr11	314978	314978	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggcctatgcctccacCgccaagtgcctgaacatctg	8	7	9	17	1	1	1	0	1	1	0	2	1	2	1	7	1	3	0	7	1	3	1			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr11:314978C>T	uc001loy.4	+	1	423	c.243C>T	c.(241-243)acC>acT	p.T81T		NM_003641	NP_003632	P13164	IFM1_HUMAN	Homo sapiens interferon induced transmembrane protein 1 (9-27) (IFITM1), mRNA.	81					negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATGCCTCCACCGCCAAGTGCC	0.572													16	51					0	0	1	0	0	T	314978	C	T	314978	2	4	235	1	0	0	0	0	0	0	0	1	7526	639	23	2		2	IFITM1	11	314978	Silent	SNP	C	TCGA-HT-8110-01A-11D-2395-08		314978	134691538	28	9853											
NTN4	59277	broad.mit.edu	37	chr12	96181099	96181099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccgacaagtcagatccGtgttctcactgtagaagcag	10	9	11	11	2	2	2	2	0	1	2	4	3	3	2	2	0	2	4	2	0	3	2			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr12:96181099G>A	uc001tei.3	-	1	652	c.203C>T	c.(202-204)aCg>aTg	p.T68M	NTN4_uc009ztf.3_Missense_Mutation_p.T68M|NTN4_uc009ztg.3_Missense_Mutation_p.T31M	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	68	Laminin N-terminal.			T -> K (in Ref. 1; AAG30822).	axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						AGTCAGATCCGTGTTCTCACT	0.537													11	39					0	0	1	0	0	A	96181099	G	A	96181099	3	1	235	1	0	0	0	0	1	0	0	0	10702	1145	40	1	1719	1	NTN4	12	96181099	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08		96181099	37670796	29	9854											
ACADS	35	broad.mit.edu	37	chr12	121176335	121176335	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaccagggcggtccccacaGcaaaccctggacatgggccg	9	4	13	15	2	0	1	0	1	0	0	1	2	1	2	5	4	2	1	5	4	1	0			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr12:121176335G>A	uc001tza.4	+	7	914	c.796_splice	c.e7-1	p.Q266_splice	ACADS_uc010szl.1_Splice_Site_p.Q262_splice	NM_000017	NP_000008	P16219	ACADS_HUMAN	Homo sapiens acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS), nuclear gene encoding mitochondrial protein, mRNA.	266						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	GGTCCCCACAGCAAACCCTGG	0.682													10	34					0	0	1	0	0	A	121176335	G	A	121176335	5	1	235	1	0	0	0	0	0	0	1	0	114	985	34	3	821	3	ACADS	12	121176335	Splice_Site	SNP	G	TCGA-HT-8110-01A-11D-2395-08	24995236	121176335	12675560	30	9855											
F7	2155	broad.mit.edu	37	chr13	113770051	113770051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgaccacacgggcaccaagCgctcctgtcggtgccacgag	8	5	13	15	4	0	1	0	1	0	0	2	2	1	1	4	2	2	2	4	2	1	0			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr13:113770051C>T	uc001vsv.3	+	5	559	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	F7_uc010agp.1_Missense_Mutation_p.R163C|F7_uc001vsw.3_Missense_Mutation_p.R148C|F7_uc010tjt.2_Missense_Mutation_p.R101C	NM_000131	NP_000122	P08709	FA7_HUMAN	Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA.	170	EGF-like 2.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GGGCACCAAGCGCTCCTGTCG	0.617													8	27					0	0	1	0	0	T	113770051	C	T	113770051	3	4	235	1	0	0	0	0	1	0	0	0	5349	768	27	1	530	1	F7	13	113770051	Missense_Mutation	SNP	C	TCGA-HT-8110-01A-11D-2395-08		113770051	1399827	31	9856											
KCNK10	54207	broad.mit.edu	37	chr14	88652226	88652226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctccggccccttcaggcGcaggttgttgggccggttgt	2	11	15	13	3	1	0	1	0	0	0	2	0	2	0	4	5	1	5	4	5	0	4			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr14:88652226G>A	uc001xwm.3	-	6	1407	c.1285C>T	c.(1285-1287)Cgc>Tgc	p.R429C	KCNK10_uc001xwn.3_Missense_Mutation_p.R429C|KCNK10_uc001xwo.3_Missense_Mutation_p.R424C	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	424					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.P428P(1)|p.P428T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CCCTTCAGGCGCAGGTTGTTG	0.607													19	39					0	0	1	0	0	A	88652226	G	A	88652226	3	1	235	1	0	0	0	0	1	0	0	0	8059	1087	38	1	350	1	KCNK10	14	88652226	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08		88652226	18697314	32	9857											
TGM7	116179	broad.mit.edu	37	chr15	43574758	43574758	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtccagaacctgccacccGttgtatcctggtgggagatc	7	9	13	12	1	0	2	0	0	0	2	3	3	2	2	5	3	2	2	5	3	2	2			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr15:43574758G>A	uc001zrf.1	-	7	1070	c.1065C>T	c.(1063-1065)aaC>aaT	p.N355N		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	355					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CCTGCCACCCGTTGTATCCTG	0.562													3	6					0	0	1	0	0	A	43574758	G	A	43574758	2	1	235	1	0	0	0	0	0	0	0	1	15832	1136	40	1		1	TGM7	15	43574758	Silent	SNP	G	TCGA-HT-8110-01A-11D-2395-08		43574758	58956634	33	9858											
SCAPER	49855	broad.mit.edu	37	chr15	77064287	77064287	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcacatcatccaatgtactCactgtgaactaacaaaacgt	15	11	4	11	1	3	1	3	1	0	0	4	1	4	1	1	0	4	1	1	0	6	3			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr15:77064287C>T	uc002bby.3	-	8	1103	c.1044G>A	c.(1042-1044)gtG>gtA	p.V348V	SCAPER_uc002bbx.3_Silent_p.V102V|SCAPER_uc002bbz.1_Silent_p.V213V|SCAPER_uc002bca.1_Silent_p.V213V|SCAPER_uc002bcb.1_Silent_p.V348V|SCAPER_uc002bcc.1_Silent_p.V348V	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA.	347						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CCAATGTACTCACTGTGAACT	0.338													7	28					0	0	1	0	0	T	77064287	C	T	77064287	2	4	235	1	0	0	0	0	0	0	0	1	13878	813	29	3		3	SCAPER	15	77064287	Silent	SNP	C	TCGA-HT-8110-01A-11D-2395-08	33489529	77064287	25467105	34	9859											
CREBBP	1387	broad.mit.edu	37	chr16	3781375	3781375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggtgaggaaggcgtcgcGcccatccatgaggtcacagc	9	5	16	11	3	1	2	1	2	0	0	3	4	2	3	2	4	1	0	2	4	1	0			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr16:3781375G>A	uc002cvv.3	-	29	5194	c.4990C>T	c.(4990-4992)Cgc>Tgc	p.R1664C	CREBBP_uc002cvw.3_Missense_Mutation_p.R1626C	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1664	Interaction with TRERF1.		R -> H (in RSTS1; abolishes acetyltransferase activity).		N-terminal peptidyl-lysine acetylation|cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	MyoD binding|histone acetyltransferase activity|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.R1664C(2)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AAGGCGTCGCGCCCATCCATG	0.642			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						6	17					0	0	1	0	0	A	3781375	G	A	3781375	3	1	235	1	0	0	0	0	1	0	0	0	3861	1087	38	1	2346	1	CREBBP	16	3781375	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08		3781375	86573378	35	9860											
CACNG3	10368	broad.mit.edu	37	chr16	24373167	24373167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataataatccggccaacaggCgcaccacgcccgtctgaact	12	6	8	15	4	1	1	0	1	1	0	2	1	2	1	4	2	2	1	4	2	4	2			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr16:24373167C>T	uc002dmf.3	+	3	2133	c.931C>T	c.(931-933)Cgc>Tgc	p.R311C		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	311					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R311C(2)|p.R311H(1)|p.R311P(1)|p.R311R(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GGCCAACAGGCGCACCACGCC	0.562													13	41					0	0	1	0	0	T	24373167	C	T	24373167	3	4	235	1	0	0	0	0	1	0	0	0	2558	768	27	1	945	1	CACNG3	16	24373167	Missense_Mutation	SNP	C	TCGA-HT-8110-01A-11D-2395-08	20591792	24373167	65981586	36	9861											
ADCY7	113	broad.mit.edu	37	chr16	50325794	50325794	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcacgacacccagtgtcCgggtggggctgcaggtgagg	6	7	17	11	2	1	1	1	1	0	0	2	2	2	1	2	5	1	3	2	5	0	1			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr16:50325794C>T	uc002egd.1	+	2	791	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	ADCY7_uc002egb.1_Missense_Mutation_p.R175W|ADCY7_uc002egc.2_Missense_Mutation_p.R175W	NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	175					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	ACCCAGTGTCCGGGTGGGGCT	0.652													12	32					0	0	1	0	0	T	50325794	C	T	50325794	3	4	235	1	0	0	0	0	1	0	0	0	299	643	23	2	533	2	ADCY7	16	50325794	Missense_Mutation	SNP	C	TCGA-HT-8110-01A-11D-2395-08	25952627	50325794	40028959	37	9862											
CBFA2T3	863	broad.mit.edu	37	chr16	88967963	88967963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggccccctgggatgcggcagGcggtgggggcggcatgctgg	3	5	22	11	3	0	0	0	0	0	0	0	1	0	1	2	9	2	3	2	9	0	0			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr16:88967963G>A	uc002fmm.2	-	1	542	c.253C>T	c.(253-255)Cct>Tct	p.P85S	CBFA2T3_uc002fml.2_Missense_Mutation_p.P24S|CBFA2T3_uc010cif.1_Missense_Mutation_p.P24S|CBFA2T3_uc002fmn.2_Missense_Mutation_p.P85S	NM_005187	NP_005178	O75081	MTG16_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA.	85	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|Pro-rich.|Required for nucleolar targeting (in isoform 1).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GATGCGGCAGGCGGTGGGGGC	0.701			T	RUNX1	AML								16	35					0	0	1	0	0	A	88967963	G	A	88967963	3	1	235	1	0	0	0	0	1	0	0	0	2698	1203	42	3	1752	3	CBFA2T3	16	88967963	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08	38642169	88967963	1386790	38	9863											
NLRP1	22861	broad.mit.edu	37	chr17	5462410	5462410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtgtgagtttttccttccGcttcatctgctgcatcaggc	5	15	9	12	1	3	1	2	1	1	0	5	1	5	1	2	1	2	4	2	1	0	4			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr17:5462410G>A	uc002gci.3	-	3	2161	c.1606C>T	c.(1606-1608)Cgg>Tgg	p.R536W	NLRP1_uc002gcg.1_Missense_Mutation_p.R536W|NLRP1_uc002gch.4_Missense_Mutation_p.R536W|NLRP1_uc002gck.3_Missense_Mutation_p.R536W|NLRP1_uc002gcj.3_Missense_Mutation_p.R536W|NLRP1_uc002gcl.3_Missense_Mutation_p.R536W|NLRP1_uc010clh.3_Missense_Mutation_p.R536W	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	536	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TTTTCCTTCCGCTTCATCTGC	0.547													28	70					0	0	1	0	0	A	5462410	G	A	5462410	3	1	235	1	0	0	0	0	1	0	0	0	10471	1086	38	1	2946	1	NLRP1	17	5462410	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08		5462410	75732800	39	9864											
PIK3R5	23533	broad.mit.edu	37	chr17	8794082	8794082	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagtgcaggcccgggacGtcacagtgggccccaaaggt	8	5	15	13	2	1	0	1	0	0	0	1	1	1	1	3	4	2	2	3	4	1	0			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr17:8794082G>A	uc002glt.3	-	6	697	c.630C>T	c.(628-630)gaC>gaT	p.D210D	PIK3R5_uc010vuz.2_Silent_p.D210D|PIK3R5_uc021tqc.1_5'UTR|PIK3R5_uc010cob.2_5'UTR|PIK3R5_uc010coa.2_5'UTR|PIK3R5_uc002glu.4_Intron	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	210					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GGCCCGGGACGTCACAGTGGG	0.632													3	13					0	0	1	0	0	A	8794082	G	A	8794082	2	1	235	1	0	0	0	0	0	0	0	1	11922	1136	40	1		1	PIK3R5	17	8794082	Silent	SNP	G	TCGA-HT-8110-01A-11D-2395-08	3331672	8794082	72401128	40	9865											
GSDMB	55876	broad.mit.edu	37	chr17	38073447	38073447	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaaagaaagttctcttctcCcccaccagatggaagcagcg	12	7	8	14	1	2	2	0	0	2	2	4	3	2	3	4	1	2	2	4	1	3	2			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr17:38073447C>T	uc010cwj.3	-	1	254	c.123G>A	c.(121-123)ggG>ggA	p.G41G	GSDMB_uc010cwl.3_Non-coding_Transcript|GSDMB_uc010cwm.3_Non-coding_Transcript|GSDMB_uc010cwk.3_Non-coding_Transcript|GSDMB_uc002htg.3_Silent_p.G41G|GSDMB_uc002hth.3_Silent_p.G41G|GSDMB_uc010wem.2_Silent_p.G41G	NM_001165958	NP_001159430	Q8TAX9	GSDMB_HUMAN	Homo sapiens gasdermin B (GSDMB), transcript variant 3, mRNA.	41						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						TTCTCTTCTCCCCCACCAGAT	0.483													31	83					0	0	1	0	0	T	38073447	C	T	38073447	2	4	235	1	0	0	0	0	0	0	0	1	6817	610	22	3		3	GSDMB	17	38073447	Silent	SNP	C	TCGA-HT-8110-01A-11D-2395-08	29279365	38073447	43121763	41	9866											
SHD	56961	broad.mit.edu	37	chr19	4284902	4284902	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccctggagaaacagccGtgagtggggaagctgaaggt	10	6	16	9	1	0	3	0	2	0	1	0	5	0	4	3	4	4	1	3	4	3	0			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr19:4284902G>A	uc002lzw.2	+	4	2179	c.716_splice	c.e4+1	p.P239_splice		NM_020209	NP_064594	Q96IW2	SHD_HUMAN	Homo sapiens Src homology 2 domain containing transforming protein D (SHD), mRNA.	239										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAAACAGCCGTGAGTGGGGA	0.587													23	43					0	0	1	0	0	A	4284902	G	A	4284902	5	1	235	1	0	0	0	0	0	0	1	0	14275	1159	40	1	731	1	SHD	19	4284902	Splice_Site	SNP	G	TCGA-HT-8110-01A-11D-2395-08		4284902	54844081	42	9867											
SPATA2	9825	broad.mit.edu	37	chr20	48522793	48522793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcgggtggaagcacatccGggctgccgtggggggagctg	6	5	21	9	3	0	0	0	0	0	0	1	2	1	2	2	7	3	3	2	7	1	0			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr20:48522793G>A	uc010gie.3	-	2	1276	c.926C>T	c.(925-927)cCg>cTg	p.P309L	SPATA2_uc002xuw.3_Missense_Mutation_p.P309L|SPATA2_uc010zyn.2_Missense_Mutation_p.P172L	NM_001135773	NP_006029	Q9UM82	SPAT2_HUMAN	Homo sapiens spermatogenesis associated 2 (SPATA2), transcript variant 2, mRNA.	309					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			AAGCACATCCGGGCTGCCGTG	0.637													30	65					0	0	1	0	0	A	48522793	G	A	48522793	3	1	235	1	0	0	0	0	1	0	0	0	15004	1116	39	2	640	2	SPATA2	20	48522793	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08		48522793	14502727	43	9868											
CBLN4	140689	broad.mit.edu	37	chr20	54579018	54579018	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaccgccgagaaggcgacCttggagttggccgcccggac	7	4	15	15	6	0	1	0	0	0	1	0	5	0	3	5	4	0	2	5	4	1	2			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr20:54579018C>T	uc002xxa.3	-	0	995	c.210G>A	c.(208-210)aaG>aaA	p.K70K		NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	Homo sapiens cerebellin 4 precursor (CBLN4), mRNA.	70	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			AGAAGGCGACCTTGGAGTTGG	0.637													36	104					0	0	1	0	0	T	54579018	C	T	54579018	2	4	235	1	0	0	0	0	0	0	0	1	2707	680	24	3		3	CBLN4	20	54579018	Silent	SNP	C	TCGA-HT-8110-01A-11D-2395-08	6056225	54579018	8446502	44	9869											
LAMA5	3911	broad.mit.edu	37	chr20	60895628	60895628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgcctggccgcctagcCgccgtgcgtcctgcccgagg	2	7	13	19	5	0	0	0	0	0	0	2	1	2	0	8	2	4	0	8	2	1	1			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr20:60895628C>T	uc002ycq.3	-	49	6813	c.6746G>A	c.(6745-6747)cGg>cAg	p.R2249Q	LAMA5_uc021wfw.1_Missense_Mutation_p.R2249Q	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	2249	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	p.R2249W(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCGCCTAGCCGCCGTGCGTC	0.687													4	6					0	0	1	0	0	T	60895628	C	T	60895628	3	4	235	1	0	0	0	0	1	0	0	0	8609	652	23	2	4465	2	LAMA5	20	60895628	Missense_Mutation	SNP	C	TCGA-HT-8110-01A-11D-2395-08	6316610	60895628	2129892	45	9870											
TRPM2	7226	broad.mit.edu	37	chr21	45817649	45817649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagccaggactgcatcgcagCggccttggcctgcagcaaga	9	5	14	13	2	0	1	0	0	0	1	1	3	0	2	3	3	5	4	3	3	1	1	rs149619816	byFrequency	TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr21:45817649C>T	uc010gpt.1	+	12	2052	c.1952C>T	c.(1951-1953)gCg>gTg	p.A651V	TRPM2_uc002zet.1_Missense_Mutation_p.A651V|TRPM2_uc002zeu.1_Missense_Mutation_p.A651V|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.A651V|TRPM2_uc002zex.1_Missense_Mutation_p.A437V|TRPM2_uc002zey.1_Missense_Mutation_p.A164V	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	651						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TGCATCGCAGCGGCCTTGGCC	0.622													7	17					0	0	1	0	0	T	45817649	C	T	45817649	3	4	235	1	0	0	0	0	1	0	0	0	16583	768	27	1	2002	1	TRPM2	21	45817649	Missense_Mutation	SNP	C	TCGA-HT-8110-01A-11D-2395-08		45817649	2312246	46	9871											
P2RX6	9127	broad.mit.edu	37	chr22	21380124	21380124	+	Frame_Shift_Del	DEL	T	T	-																															cactggtgggagcaaccgggTgtggaggcccgcaccctgct																										TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr22:21380124delT	uc010gsu.1	+	8	921	c.921delT	c.(919-921)ggtfs	p.G307fs	P2RX6_uc002ztz.2_Frame_Shift_Del_p.G281fs|P2RX6_uc002zua.2_Non-coding_Transcript|P2RX6_uc002zuc.1_Non-coding_Transcript	NM_005446	NP_005437	O15547	P2RX6_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 6 (P2RX6), transcript variant 1, mRNA.	307					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity										AGCAACCGGGTGTGGAGGCCC	0.657													2	4	---	---	---	---						-	21380124	T	-	21380124	7	5	235	1	0	1	0	1	0	0	0	0	11344	1683	59	0	955	0	P2RX6	22	21380124	Frame_Shift_Del	DEL	T	TCGA-HT-8110-01A-11D-2395-08		21380124	29924442	47	9872											
PCDH11X	27328	broad.mit.edu	37	chrX	91133712	91133712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgctggcaccataactgtcGttgtagttattttcatcact	8	17	7	9	1	2	0	2	0	0	0	3	0	2	0	1	1	2	5	1	1	3	7			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chrX:91133712G>A	uc004efk.2	+	1	3318	c.2473G>A	c.(2473-2475)Gtt>Att	p.V825I	PCDH11X_uc004efl.2_Missense_Mutation_p.V825I|PCDH11X_uc010nmv.2_Missense_Mutation_p.V825I|PCDH11X_uc004efm.2_Missense_Mutation_p.V825I|PCDH11X_uc004efn.2_Missense_Mutation_p.V825I|PCDH11X_uc004efo.2_Missense_Mutation_p.V825I|PCDH11X_uc004efh.2_Missense_Mutation_p.V825I|PCDH11X_uc004efj.1_Missense_Mutation_p.V825I	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	825					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						CATAACTGTCGTTGTAGTTAT	0.463													21	13					0	0	1	0	0	A	91133712	G	A	91133712	3	1	235	1	0	0	0	0	1	0	0	0	11508	1145	40	1	2479	1	PCDH11X	23	91133712	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08		91133712	64136848	48	9873											
IL22RA1	58985	broad.mit.edu	37	chr1	24460805	24460805	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcctgcacggattggcgtggGggtaggatgaacaatcatct	9	9	15	8	2	2	1	1	1	1	0	2	3	2	3	1	5	2	2	1	5	3	2			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr1:24460805G>C	uc001biq.2	-	3	630	c.427C>G	c.(427-429)Ccc>Gcc	p.P143A	IL22RA1_uc010oeg.1_Missense_Mutation_p.P35A|IL22RA1_uc009vrb.2_Missense_Mutation_p.P7A|IL22RA1_uc010oeh.2_Missense_Mutation_p.P143A	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA.	143	Fibronectin type-III 2.					integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		ATTGGCGTGGGGGTAGGATGA	0.522													12	48					0	0	1	0	0	C	24460805	G	C	24460805	3	2	236	1	0	0	0	0	1	0	0	0	7673	1232	43	5	1313	5	IL22RA1	1	24460805	Missense_Mutation	SNP	G	TCGA-HT-8111-01A-11D-2395-08		24460805	224789816	1	9874											
SPAG17	200162	broad.mit.edu	37	chr1	118554864	118554874	+	Frame_Shift_Del	DEL	ATCTGGCAGAA	ATCTGGCAGAA	-																															aacatacttgtttcttgatcAtctggcagaataatttgatc																										TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr1:118554864_118554874delATCTGGCAGAA	uc001ehk.2	-	29	4477_4487	c.4409_4419delTTCTGCCAGAT	c.(4408-4419)attctgccagatfs	p.I1470fs		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1470						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTTCTTGATCATCTGGCAGAATAATTTGATC	0.336													7	40	---	---	---	---						-	118554874	ATCTGGCAGAA	-	118554864	7	5	236	1	0	1	0	1	0	0	0	0	14979	214	8	0	2328	0	SPAG17	1	118554864	Frame_Shift_Del	DEL	ATCTGGCAGAA	TCGA-HT-8111-01A-11D-2395-08	94094059	118554864	130695757	2	9875											
ZNF281	23528	broad.mit.edu	37	chr1	200378559	200378559	+	Frame_Shift_Del	DEL	G	G	-																															tcatgtccggggctggcggaGgggggggctcagcggccggg																										TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr1:200378559delG	uc001gve.3	-	1	382	c.275delC	c.(274-276)cctfs	p.P92fs	EU250746_uc010ppi.1_5'Flank|ZNF281_uc001gvf.1_Frame_Shift_Del_p.P92fs|ZNF281_uc001gvg.1_Frame_Shift_Del_p.P56fs|ZNF281_uc021phb.1_Frame_Shift_Del_p.P92fs	NM_012482	NP_036614	Q9Y2X9	ZN281_HUMAN	Homo sapiens zinc finger protein 281 (ZNF281), mRNA.	92	Poly-Pro.				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.P93fs*34(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						GGCTGGCGGAGGGGGGGGCTC	0.706													2	4	---	---	---	---						-	200378559	G	-	200378559	7	5	236	1	0	1	0	1	0	0	0	0	17815	1000	35	0	2416	0	ZNF281	1	200378559	Frame_Shift_Del	DEL	G	TCGA-HT-8111-01A-11D-2395-08	81823695	200378559	48872062	3	9876											
NEB	4703	broad.mit.edu	37	chr2	152534214	152534214	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggcctttttaactttttcGacgtcgagactgccaatagg	8	13	9	11	4	0	1	0	0	0	1	2	3	0	1	3	2	2	0	3	2	3	6	rs74320183	by1000genomes	TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr2:152534214G>A	uc021vrb.1	-	31	3668	c.3639C>T	c.(3637-3639)gtC>gtT	p.V1213V	NEB_uc002txu.3_Silent_p.V1213V|NEB_uc021vrc.1_Silent_p.V1213V|NEB_uc010fnx.3_Silent_p.V1213V|NEB_uc021vrd.1_Silent_p.V1213V	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1213					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAACTTTTTCGACGTCGAGAC	0.458													26	208					0	0	1	0	0	A	152534214	G	A	152534214	2	1	236	1	0	0	0	0	0	0	0	1	10302	1045	37	2		2	NEB	2	152534214	Silent	SNP	G	TCGA-HT-8111-01A-11D-2395-08		152534214	90665159	4	9877											
SCN3A	6328	broad.mit.edu	37	chr2	166012411	166012411	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtatccttctggacacTggctataagagagagaaatg	14	10	11	6	0	1	3	0	0	1	3	2	6	2	4	1	2	0	2	1	2	4	4			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr2:166012411T>C	uc002ucx.3	-	9	1526	c.1034A>G	c.(1033-1035)cAg>cGg	p.Q345R	SCN3A_uc002ucy.3_Missense_Mutation_p.Q345R|SCN3A_uc002ucz.3_Missense_Mutation_p.Q345R|SCN3A_uc002uda.1_Missense_Mutation_p.Q214R|SCN3A_uc002udb.1_Missense_Mutation_p.Q214R	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	345						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TTCTGGACACTGGCTATAAGA	0.408													6	82					0	0	1	0	0	C	166012411	T	C	166012411	3	2	236	1	0	0	0	0	1	0	0	0	13918	1580	55	4	5044	4	SCN3A	2	166012411	Missense_Mutation	SNP	T	TCGA-HT-8111-01A-11D-2395-08	13478197	166012411	77186962	5	9878											
SSFA2	6744	broad.mit.edu	37	chr2	182780777	182780777	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aatcgaccattttcatctctCcatcatctgtgaagaaagaa	14	12	5	10	1	4	3	2	1	2	2	7	4	5	3	2	0	0	0	2	0	4	2			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr2:182780777C>G	uc002uoi.3	+	10	2732	c.2410C>G	c.(2410-2412)Cca>Gca	p.P804A	SSFA2_uc002uoh.3_Missense_Mutation_p.P804A|SSFA2_uc002uoj.3_Missense_Mutation_p.P804A|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Missense_Mutation_p.P651A|SSFA2_uc002uol.3_Missense_Mutation_p.P651A|SSFA2_uc002uom.3_Missense_Mutation_p.P272A	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.	804						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TTTCATCTCTCCATCATCTGT	0.502													3	56					0	0	1	0	0	G	182780777	C	G	182780777	3	3	236	1	0	0	0	0	1	0	0	0	15182	855	30	5	2452	5	SSFA2	2	182780777	Missense_Mutation	SNP	C	TCGA-HT-8111-01A-11D-2395-08	16768366	182780777	60418596	6	9879											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								19	30					0	0	1	0	0	T	209113112	C	T	209113112	3	4	236	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8111-01A-11D-2395-08	26332335	209113112	34086261	7	9880											
KIAA1109	84162	broad.mit.edu	37	chr4	123107220	123107220	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaccaggttatacatcAcagtcaatgactttgaattt	15	12	6	8	0	2	3	2	2	0	1	2	3	2	3	1	1	2	1	1	1	5	4			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr4:123107220A>G	uc003ieh.3	+	4	433	c.388A>G	c.(388-390)Aca>Gca	p.T130A	KIAA1109_uc003iei.1_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	130					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTTATACATCACAGTCAATGA	0.333													16	56					0	0	1	0	0	G	123107220	A	G	123107220	3	3	236	1	0	0	0	0	1	0	0	0	8208	159	6	3	406	3	KIAA1109	4	123107220	Missense_Mutation	SNP	A	TCGA-HT-8111-01A-11D-2395-08		123107220	68047056	8	9881											
ADAD1	132612	broad.mit.edu	37	chr4	123336539	123336539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttttgctttctaggtgatGggaattgcagtgataccaga	9	15	12	5	0	1	3	0	2	1	1	1	4	1	4	1	2	3	3	1	2	3	6			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr4:123336539G>A	uc003ieo.3	+	10	1487	c.1255G>A	c.(1255-1257)Ggg>Agg	p.G419R	ADAD1_uc003iep.3_Missense_Mutation_p.G408R|ADAD1_uc003ieq.3_Missense_Mutation_p.G401R	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	419	A to I editase.				RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCTAGGTGATGGGAATTGCAG	0.348													9	59					0	0	1	0	0	A	123336539	G	A	123336539	3	1	236	1	0	0	0	0	1	0	0	0	231	1348	47	3	1289	3	ADAD1	4	123336539	Missense_Mutation	SNP	G	TCGA-HT-8111-01A-11D-2395-08	229319	123336539	67817737	9	9882											
ETFDH	2110	broad.mit.edu	37	chr4	159603573	159603573	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcccagactggaaagagaaGggggtatgaaaaattgtttt	14	11	12	4	0	0	3	0	1	0	2	1	5	1	4	1	3	0	2	1	3	5	5			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr4:159603573G>A	uc003iqb.3	+	2	734	c.402G>A	c.(400-402)aaG>aaA	p.K134K	ETFDH_uc011cjg.2_Silent_p.K87K|ETFDH_uc010iqr.3_Intron|ETFDH_uc011cjh.2_Silent_p.K73K|ETFDH_uc010iqs.3_Silent_p.K73K	NM_004453	NP_004444	Q16134	ETFD_HUMAN	Homo sapiens electron-transferring-flavoprotein dehydrogenase (ETFDH), nuclear gene encoding mitochondrial protein, mRNA.	134					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		GGAAAGAGAAGGGGGTATGAA	0.388													21	55					0	0	1	0	0	A	159603573	G	A	159603573	2	1	236	1	0	0	0	0	0	0	0	1	5271	991	35	3		3	ETFDH	4	159603573	Silent	SNP	G	TCGA-HT-8111-01A-11D-2395-08	36267034	159603573	31550703	10	9883											
HTR1E	3354	broad.mit.edu	37	chr6	87725488	87725488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgctgatgatccttaccGtctggaccatctccattttc	6	13	7	15	3	2	2	0	2	2	0	5	3	3	3	5	1	1	1	5	1	1	3			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr6:87725488G>A	uc003pli.3	+	1	1139	c.436G>A	c.(436-438)Gtc>Atc	p.V146I	HTR1E_uc021zcg.1_Missense_Mutation_p.V146I	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	146					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.V146I(4)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GATCCTTACCGTCTGGACCAT	0.582													8	124					0	0	1	0	0	A	87725488	G	A	87725488	3	1	236	1	0	0	0	0	1	0	0	0	7439	1145	40	1	438	1	HTR1E	6	87725488	Missense_Mutation	SNP	G	TCGA-HT-8111-01A-11D-2395-08		87725488	83389579	11	9884											
MOXD1	26002	broad.mit.edu	37	chr6	132722520	132722520	+	Frame_Shift_Del	DEL	T	T	-																															gcccgagccccccgccgccgTcccggggagcagcccccaca																										TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr6:132722520delT	uc003qdf.3	-	0	145	c.46delA	c.(46-48)acgfs	p.T16fs		NM_015529	NP_056344	Q6UVY6	MOXD1_HUMAN	Homo sapiens monooxygenase, DBH-like 1 (MOXD1), transcript variant 2, mRNA.	16					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CCCGCCGCCGTCCCGGGGAGC	0.746													2	4	---	---	---	---						-	132722520	T	-	132722520	7	5	236	1	0	1	0	1	0	0	0	0	9720	1667	58	0	1843	0	MOXD1	6	132722520	Frame_Shift_Del	DEL	T	TCGA-HT-8111-01A-11D-2395-08	44997032	132722520	38392547	12	9885											
TRPA1	8989	broad.mit.edu	37	chr8	72969169	72969169	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctgcataaattcaggtcGcagattttttaatccataag	13	14	6	8	1	1	1	1	0	0	1	3	1	2	1	2	1	2	2	2	1	5	7			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr8:72969169G>A	uc003xza.3	-	9	1352	c.1177C>T	c.(1177-1179)Cga>Tga	p.R393*		NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	393						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AATTCAGGTCGCAGATTTTTT	0.294													7	10					0	0	1	0	0	A	72969169	G	A	72969169	4	1	236	1	0	0	0	0	0	1	0	0	16574	1095	38	1	2254	1	TRPA1	8	72969169	Nonsense_Mutation	SNP	G	TCGA-HT-8111-01A-11D-2395-08		72969169	73394853	13	9886											
WNK2	65268	broad.mit.edu	37	chr9	96051424	96051424	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cactccagctccagaggctgCctcaaccagggacgccagtg	9	5	11	16	1	1	1	1	0	0	1	3	2	3	2	5	2	3	2	5	2	1	0			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr9:96051424C>A	uc004ati.1	+	19	4499	c.4499C>A	c.(4498-4500)gCc>gAc	p.A1500D	WNK2_uc011lud.1_Missense_Mutation_p.A1463D|WNK2_uc004atj.3_Missense_Mutation_p.A1463D|WNK2_uc004atk.3_Missense_Mutation_p.A1100D|WNK2_uc004atl.1_Missense_Mutation_p.A58D	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1500					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCAGAGGCTGCCTCAACCAGG	0.687													3	31					0.115264	0.115264	1	1	0	A	96051424	C	A	96051424	3	1	236	1	0	0	0	0	1	0	0	0	17375	739	26	5	4462	5	WNK2	9	96051424	Missense_Mutation	SNP	C	TCGA-HT-8111-01A-11D-2395-08		96051424	45162007	14	9887											
MTPAP	55149	broad.mit.edu	37	chr10	30653858	30653858	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacgctcacacccaccccAcccccacccccacagaggtg	9	2	5	25	1	1	1	1	0	0	1	1	1	1	1	8	1	0	1	8	1	0	0			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr10:30653858A>C	uc001ivb.4	-	8	1696	c.324T>G	c.(322-324)ggT>ggG	p.G108G	MTPAP_uc001ivd.2_Non-coding_Transcript|DQ589067_uc001ive.1_5'Flank|DQ593032_uc001ivg.2_5'Flank	NM_018109	NP_060579	Q9NVV4	PAPD1_HUMAN	Homo sapiens mitochondrial poly(A) polymerase (MTPAP), nuclear gene encoding mitochondrial protein, mRNA.	0					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|RNA binding|UTP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						cacccaccccacccccacccc	0.642													5	13					0	0	1	0	0	C	30653858	A	C	30653858	2	2	236	1	0	0	0	0	0	0	0	1	9956	174	6	5		5	MTPAP	10	30653858	Silent	SNP	A	TCGA-HT-8111-01A-11D-2395-08		30653858	104880889	15	9888											
CALHM2	51063	broad.mit.edu	37	chr10	105209278	105209278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcttccctggccgtgaGtgaggaagggtccacgaact	7	9	14	11	2	1	2	0	2	1	0	3	4	3	3	3	3	2	1	3	3	2	1			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr10:105209278G>A	uc001kxa.3	-	2	1032	c.421C>T	c.(421-423)Ctc>Ttc	p.L141F	CALHM2_uc001kxc.3_Missense_Mutation_p.L141F|CALHM2_uc001kxb.3_Missense_Mutation_p.L141F|CALHM2_uc001kxd.1_Missense_Mutation_p.L141F	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN	Homo sapiens calcium homeostasis modulator 2 (CALHM2), transcript variant 1, mRNA.	141						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CTGGCCGTGAGTGAGGAAGGG	0.607													30	108					0	0	1	0	0	A	105209278	G	A	105209278	3	1	236	1	0	0	0	0	1	0	0	0	2583	1029	36	3	558	3	CALHM2	10	105209278	Missense_Mutation	SNP	G	TCGA-HT-8111-01A-11D-2395-08	74555420	105209278	30325469	16	9889											
ART1	417	broad.mit.edu	37	chr11	3681544	3681544	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagggccccgcccgcatctaCctccgagccctgggcaagca	7	4	11	19	3	1	0	0	0	1	0	2	1	2	0	6	2	3	3	6	2	2	1			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr11:3681544C>T	uc001lye.1	+	2	896	c.795C>T	c.(793-795)taC>taT	p.Y265Y	ART1_uc009yeb.1_Silent_p.Y265Y	NM_004314	NP_004305	P52961	NAR1_HUMAN	Homo sapiens ADP-ribosyltransferase 1 (ART1), mRNA.	265					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	CCCGCATCTACCTCCGAGCCC	0.607													7	86					0	0	1	0	0	T	3681544	C	T	3681544	2	4	236	1	0	0	0	0	0	0	0	1	997	518	18	3		3	ART1	11	3681544	Silent	SNP	C	TCGA-HT-8111-01A-11D-2395-08		3681544	131324972	17	9890											
MLL2	8085	broad.mit.edu	37	chr12	49425070	49425070	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccccgcccagtgctgagtTgcacattctttgcccggagt	6	10	10	15	2	1	1	0	1	1	0	1	2	1	2	4	1	3	3	4	1	0	3			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr12:49425070T>G	uc001rta.4	-	38	13418	c.13418A>C	c.(13417-13419)cAa>cCa	p.Q4473P		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	4473					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						AGTGCTGAGTTGCACATTCTT	0.617			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			25	105					0	0	1	0	0	G	49425070	T	G	49425070	3	3	236	1	0	0	0	0	1	0	0	0	9621	1812	63	5	3259	5	MLL2	12	49425070	Missense_Mutation	SNP	T	TCGA-HT-8111-01A-11D-2395-08		49425070	84426825	18	9891											
KLHL28	54813	broad.mit.edu	37	chr14	45400708	45400708	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgccatggatgcaaccatCtcccaggagtccttacttgg	8	11	9	13	0	2	0	0	0	2	0	4	2	3	2	4	3	4	1	4	3	2	2			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr14:45400708C>A	uc001wvq.3	-	3	1626	c.1380G>T	c.(1378-1380)gaG>gaT	p.E460D	KLHL28_uc001wvr.3_Missense_Mutation_p.E460D	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	Homo sapiens kelch-like 28 (Drosophila) (KLHL28), mRNA.	460										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ATGCAACCATCTCCCAGGAGT	0.393													3	39					6.4e-05	6.8129e-05	1	1	0	A	45400708	C	A	45400708	3	1	236	1	0	0	0	0	1	0	0	0	8382	912	32	5	343	5	KLHL28	14	45400708	Missense_Mutation	SNP	C	TCGA-HT-8111-01A-11D-2395-08		45400708	61948832	19	9892											
TP53	7157	broad.mit.edu	37	chr17	7578449	7578449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgactgcttgtagatggCcatggcgcggacgcgggtgc	5	9	17	10	4	0	2	0	1	0	1	0	3	0	3	1	4	2	2	1	4	1	2			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr17:7578449C>T	uc002gim.2	-	4	675	c.481G>A	c.(481-483)Gcc>Acc	p.A161T	TP53_uc002gig.1_Missense_Mutation_p.A161T|TP53_uc002gih.3_Missense_Mutation_p.A161T|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.A29T|TP53_uc010cnf.1_Missense_Mutation_p.A29T|TP53_uc002gii.1_Missense_Mutation_p.A29T|TP53_uc010cni.1_Missense_Mutation_p.A161T|TP53_uc010cnh.1_Missense_Mutation_p.A161T|TP53_uc002gij.2_Missense_Mutation_p.A161T|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.A68T|TP53_uc002gio.2_Missense_Mutation_p.A29T|TP53_uc010vug.2_Missense_Mutation_p.A122T	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	161	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.A161T(109)|p.A161D(9)|p.0?(8)|p.A161V(8)|p.M160I(6)|p.A161fs*9(6)|p.M160fs*10(5)|p.A161A(5)|p.M160K(4)|p.M160V(4)|p.R156_I162delRVRAMAI(4)|p.M160L(3)|p.A68T(3)|p.A29T(3)|p.V157_C176del20(2)|p.A161fs*19(2)|p.R156_A161delRVRAMA(2)|p.P151_V173del23(2)|p.A161fs*10(2)|p.R156_A161del(2)|p.A161fs*20(2)|p.M160_A161>IS(2)|p.A161fs*8(2)|p.A161fs*7(2)|p.T155_A161delTRVRAMA(2)|p.A161S(2)|p.A161P(2)|p.V157_I162delVRAMAI(2)|p.A161F(2)|p.A159_Q167delAMAIYKQSQ(2)|p.M160T(1)|p.R156fs*18(1)|p.V157fs*9(1)|p.V157_M160delVRAM(1)|p.A161G(1)|p.S149fs*72(1)|p.R158_A161del(1)|p.R156fs*20(1)|p.R158fs*8(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)		TTGTAGATGGCCATGGCGCGG	0.632		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)			54	37					0	0	1	0	0	T	7578449	C	T	7578449	3	4	236	1	0	0	0	0	1	0	0	0	16378	739	26	3	817	3	TP53	17	7578449	Missense_Mutation	SNP	C	TCGA-HT-8111-01A-11D-2395-08		7578449	73616761	20	9893											
AURKAIP1	54998	broad.mit.edu	37	chr1	1309600	1309600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attgcggtggagccacagtcCctgcggtcccggtatccagt	6	9	13	13	3	0	0	0	0	0	0	3	1	3	1	4	4	3	1	4	4	1	2			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr1:1309600C>T	uc001afb.1	-	1	388	c.278G>A	c.(277-279)gGg>gAg	p.G93E	AURKAIP1_uc001afc.2_Missense_Mutation_p.G93E|AURKAIP1_uc009vkb.1_Missense_Mutation_p.G93E|AURKAIP1_uc001afd.2_Missense_Mutation_p.G93E	NM_017900	NP_060370	Q9NWT8	AKIP_HUMAN	Homo sapiens aurora kinase A interacting protein 1 (AURKAIP1), transcript variant 1, mRNA.	93					negative regulation of mitosis|positive regulation of proteolysis	mitochondrion|nucleus	protein binding			kidney(1)|lung(2)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		AGCCACAGTCCCTGCGGTCCC	0.657													6	66					0	0	1	0	0	T	1309600	C	T	1309600	3	4	237	1	0	0	0	0	1	0	0	0	1222	623	22	3	329	3	AURKAIP1	1	1309600	Missense_Mutation	SNP	C	TCGA-HT-8113-01A-11D-2395-08		1309600	247941021	1	9894											
NRXN1	9378	broad.mit.edu	37	chr2	50723230	50723230	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatcaaacacgtaatgtaaGtacctgggaaaaaaatgaaa	22	7	7	5	1	1	1	1	1	0	0	1	2	1	2	1	1	2	3	1	1	9	3			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr2:50723230G>C	uc021vhh.1	-	13	3804	c.2883C>G	c.(2881-2883)taC>taG	p.Y961*	NRXN1_uc002rxb.4_Nonsense_Mutation_p.Y633*|NRXN1_uc021vhg.1_Nonsense_Mutation_p.Y1001*|NRXN1_uc021vhi.1_Nonsense_Mutation_p.Y997*|NRXN1_uc021vhj.1_Nonsense_Mutation_p.Y957*|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	961	Laminin G-like 5.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGTAATGTAAGTACCTGGGAA	0.353													4	11					0	0	1	0	0	C	50723230	G	C	50723230	4	2	237	1	0	0	0	0	0	1	0	0	10665	1024	36	5	1939	5	NRXN1	2	50723230	Nonsense_Mutation	SNP	G	TCGA-HT-8113-01A-11D-2395-08		50723230	192476143	2	9895											
MRPS5	64969	broad.mit.edu	37	chr2	95773974	95773974	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcctccccatgagtttcCactccatcctcgctcccgtt	5	12	6	18	2	0	1	0	1	0	0	6	2	5	1	7	0	1	3	7	0	0	2			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr2:95773974C>T	uc002sub.3	-	4	801	c.583G>A	c.(583-585)Gga>Aga	p.G195R	MRPS5_uc002suc.3_Non-coding_Transcript|MRPS5_uc010yud.1_Missense_Mutation_p.G195R	NM_031902	NP_114108	P82675	RT05_HUMAN	Homo sapiens mitochondrial ribosomal protein S5 (MRPS5), nuclear gene encoding mitochondrial protein, mRNA.	195					translation	mitochondrion|ribosome	RNA binding|protein binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CATGAGTTTCCACTCCATCCT	0.532													14	89					0	0	1	0	0	T	95773974	C	T	95773974	3	4	237	1	0	0	0	0	1	0	0	0	9846	603	21	3	741	3	MRPS5	2	95773974	Missense_Mutation	SNP	C	TCGA-HT-8113-01A-11D-2395-08	45050744	95773974	147425399	3	9896											
SDPR	8436	broad.mit.edu	37	chr2	192700918	192700918	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcgagggacgcttcggaatGaccctctgcaaaggactcct	9	7	13	12	3	1	1	0	1	1	0	3	5	2	4	2	4	1	2	2	4	2	1	rs115736105	byFrequency	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr2:192700918G>A	uc002utb.3	-	1	1364	c.1009C>T	c.(1009-1011)Cat>Tat	p.H337Y		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	337						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GCTTCGGAATGACCCTCTGCA	0.567													7	146					0	0	1	0	0	A	192700918	G	A	192700918	3	1	237	1	0	0	0	0	1	0	0	0	13970	1290	45	3	272	3	SDPR	2	192700918	Missense_Mutation	SNP	G	TCGA-HT-8113-01A-11D-2395-08	96926944	192700918	50498455	4	9897											
ESYT3	83850	broad.mit.edu	37	chr3	138191379	138191379	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	accctgcttctgatactaagGacgtatccaggagtaccaca	12	9	8	12	1	1	1	0	1	1	0	2	3	2	3	3	2	3	3	3	2	4	5	rs72976634	by1000genomes	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr3:138191379G>C	uc003esk.3	+	17	2141	c.1915G>C	c.(1915-1917)Gac>Cac	p.D639H	ESYT3_uc010hug.2_Non-coding_Transcript	NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA.	639						integral to membrane|plasma membrane		p.D639D(1)		breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						TGATACTAAGGACGTATCCAG	0.557													6	139					0	0	1	0	0	C	138191379	G	C	138191379	3	2	237	1	0	0	0	0	1	0	0	0	5266	1174	41	5	1985	5	ESYT3	3	138191379	Missense_Mutation	SNP	G	TCGA-HT-8113-01A-11D-2395-08		138191379	59831051	5	9898											
GYG1	2992	broad.mit.edu	37	chr3	148744693	148744693	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gattcctttgacaacatcaaGaggaaacttgacacttacct	14	11	6	10	0	1	3	1	2	0	1	2	5	2	4	2	1	3	0	2	1	4	4			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr3:148744693G>C	uc003ewn.3	+	7	1259	c.1026G>C	c.(1024-1026)aaG>aaC	p.K342N	GYG1_uc003ewo.3_Missense_Mutation_p.K325N|GYG1_uc003ewp.3_Missense_Mutation_p.R252T	NM_004130	NP_004121	P46976	GLYG_HUMAN	Homo sapiens glycogenin 1 (GYG1), transcript variant 1, mRNA.	342					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ACAACATCAAGAGGAAACTTG	0.458													8	99					0	0	1	0	0	C	148744693	G	C	148744693	3	2	237	1	0	0	0	0	1	0	0	0	6905	942	33	5	1056	5	GYG1	3	148744693	Missense_Mutation	SNP	G	TCGA-HT-8113-01A-11D-2395-08	10553314	148744693	49277737	6	9899											
TLR6	10333	broad.mit.edu	37	chr4	38829218	38829218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggtatgttcctggccctgCgccgagtctgggtccactgg	4	10	15	12	2	1	0	0	0	1	0	3	1	3	0	4	4	1	2	4	4	1	2			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr4:38829218C>T	uc010ifg.2	-	1	1998	c.1877G>A	c.(1876-1878)cGc>cAc	p.R626H	TLR6_uc003gtm.3_Missense_Mutation_p.R626H	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	626					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of interleukin-6 biosynthetic process|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTGGCCCTGCGCCGAGTCTG	0.502													21	106					0	0	1	0	0	T	38829218	C	T	38829218	3	4	237	1	0	0	0	0	1	0	0	0	15952	768	27	1	517	1	TLR6	4	38829218	Missense_Mutation	SNP	C	TCGA-HT-8113-01A-11D-2395-08		38829218	152325058	7	9900											
N4BP2	55728	broad.mit.edu	37	chr4	40104251	40104252	+	Frame_Shift_Ins	INS	-	-	A																															tcgcaggttgtagcagtctcINSaatcaaaaacagaaagaact																										TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr4:40104251_40104252insA	uc003guy.4	+	3	1124_1125	c.786_787insA	c.(784-789)ctcaatfs	p.L262fs	N4BP2_uc010ifq.3_Frame_Shift_Ins_p.L182fs|N4BP2_uc010ifr.3_Frame_Shift_Ins_p.L182fs	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	262						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GTAGCAGTCTCAATCAAAAACA	0.411													12	51	---	---	---	---						A	40104252	-	A	40104251	7	5	237	1	0	1	1	0	0	0	0	0	10110	813	29	0	792	0	N4BP2	4	40104251	Frame_Shift_Ins	INS	-	TCGA-HT-8113-01A-11D-2395-08	1275033	40104251	151050025	8	9901											
PCDHAC2	56134	broad.mit.edu	37	chr5	140237337	140237337	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcgctgctggcgtctccCgctggcagcgcgggcggtgc	1	6	17	17	7	1	0	0	0	1	0	2	0	1	0	2	4	3	4	2	4	0	0	rs7725388	by1000genomes	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr5:140237337C>G	uc003lhx.2	+	0	1704	c.1704C>G	c.(1702-1704)ccC>ccG	p.P568P	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc011dad.2_Silent_p.P568P	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	582	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCGTCTCCCGCTGGCAGCG	0.692													4	66					0	0	1	0	0	G	140237337	C	G	140237337	2	3	237	1	0	0	0	0	0	0	0	1	11533	639	23	5		5	PCDHAC2	5	140237337	Silent	SNP	C	TCGA-HT-8113-01A-11D-2395-08		140237337	40677923	9	9902											
MLLT4	4301	broad.mit.edu	37	chr6	168352193	168352193	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccactatgccggtgatttcGatggaatgtccatggatttg	8	14	11	8	2	0	1	0	1	0	0	3	4	2	3	3	3	1	0	3	3	2	3	rs78299900	byFrequency	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr6:168352193G>A	uc021zik.1	+	28	4334	c.4015G>A	c.(4015-4017)Gat>Aat	p.D1339N	MLLT4_uc003qwb.1_Missense_Mutation_p.D1364N|MLLT4_uc003qwc.2_Missense_Mutation_p.D1380N|MLLT4_uc021zij.1_Missense_Mutation_p.D1363N|MLLT4_uc021zim.1_Missense_Mutation_p.D926N|MLLT4_uc003qwg.1_Missense_Mutation_p.D689N	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1380					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CGGTGATTTCGATGGAATGTC	0.627			T	MLL	AL								6	134					0	0	1	0	0	A	168352193	G	A	168352193	3	1	237	1	0	0	0	0	1	0	0	0	9629	1058	37	2	4252	2	MLLT4	6	168352193	Missense_Mutation	SNP	G	TCGA-HT-8113-01A-11D-2395-08		168352193	2762874	10	9903											
HERPUD2	64224	broad.mit.edu	37	chr7	35707097	35707097	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggtcagtttgtgcttgTggaagggtacgctgcctcaa	6	13	14	8	1	2	0	2	0	0	0	2	1	2	1	1	3	3	5	1	3	3	4			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr7:35707097T>C	uc003tes.4	-	4	1100	c.441A>G	c.(439-441)ccA>ccG	p.P147P	HERPUD2_uc003tet.3_Silent_p.P147P	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN	Homo sapiens HERPUD family member 2 (HERPUD2), mRNA.	147					response to unfolded protein	integral to membrane				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						TTTGTGCTTGTGGAAGGGTAC	0.458													28	110					0	0	1	0	0	C	35707097	T	C	35707097	2	2	237	1	0	0	0	0	0	0	0	1	7064	1683	59	3		3	HERPUD2	7	35707097	Silent	SNP	T	TCGA-HT-8113-01A-11D-2395-08		35707097	123431566	11	9904											
QSOX2	169714	broad.mit.edu	37	chr9	139118662	139118662	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtcgtagtcatggcacacGgcctggttcttctcttccat	6	14	9	12	2	3	0	1	0	2	0	6	0	4	0	2	3	0	3	2	3	1	4			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr9:139118662G>A	uc010nbi.2	-	1	425	c.387C>T	c.(385-387)gcC>gcT	p.A129A		NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 2 (QSOX2), mRNA.	129	Thioredoxin.				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CATGGCACACGGCCTGGTTCT	0.562											OREG0019616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	161					0	0	1	0	0	A	139118662	G	A	139118662	2	1	237	1	0	0	0	0	0	0	0	1	12884	1103	39	2		2	QSOX2	9	139118662	Silent	SNP	G	TCGA-HT-8113-01A-11D-2395-08		139118662	2094769	12	9905											
KIAA1462	57608	broad.mit.edu	37	chr10	30318651	30318651	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acgtggacaggcaggctgtgGgcttgggccattcctctggc	5	9	16	11	1	1	0	0	0	1	0	2	1	2	1	2	6	0	3	2	6	0	2			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr10:30318651G>A	uc009xle.2	-	2	563	c.426C>T	c.(424-426)gcC>gcT	p.A142A	KIAA1462_uc001iux.3_Silent_p.A142A|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Silent_p.A4A	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	142										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GCAGGCTGTGGGCTTGGGCCA	0.572													34	227					0	0	1	0	0	A	30318651	G	A	30318651	2	1	237	1	0	0	0	0	0	0	0	1	8234	1219	43	3		3	KIAA1462	10	30318651	Silent	SNP	G	TCGA-HT-8113-01A-11D-2395-08		30318651	105216096	13	9906											
NRAP	4892	broad.mit.edu	37	chr10	115380379	115380379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcacctcgctaatgagttctCctgccttcttcgcctgctcc	4	14	6	17	2	3	1	1	1	2	0	7	1	4	1	5	0	2	3	5	0	1	4			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr10:115380379C>T	uc001lal.3	-	24	3022	c.2858G>A	c.(2857-2859)gGa>gAa	p.G953E	NRAP_uc009xyb.3_Intron|NRAP_uc001laj.3_Missense_Mutation_p.G953E|NRAP_uc001lak.3_Missense_Mutation_p.G918E	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	953						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		AATGAGTTCTCCTGCCTTCTT	0.498													8	102					0	0	1	0	0	T	115380379	C	T	115380379	3	4	237	1	0	0	0	0	1	0	0	0	10638	855	30	3	2406	3	NRAP	10	115380379	Missense_Mutation	SNP	C	TCGA-HT-8113-01A-11D-2395-08	85061728	115380379	20154368	14	9907											
EIF3A	8661	broad.mit.edu	37	chr10	120802275	120802275	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatctcgcccttctccacgTctccactccctacacagcaa	8	10	3	20	2	4	0	1	0	3	0	8	0	5	0	4	0	2	1	4	0	2	2			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr10:120802275T>G	uc001ldu.3	-	18	2903	c.2757A>C	c.(2755-2757)agA>agC	p.R919S	EIF3A_uc010qsu.2_Missense_Mutation_p.R885S|EIF3A_uc009xzg.1_5'UTR	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	919					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CTTCTCCACGTCTCCACTCCC	0.423													9	144					0	0	1	0	0	G	120802275	T	G	120802275	3	3	237	1	0	0	0	0	1	0	0	0	5012	1664	58	5	1407	5	EIF3A	10	120802275	Missense_Mutation	SNP	T	TCGA-HT-8113-01A-11D-2395-08	5421896	120802275	14732472	15	9908											
OR5M11	219487	broad.mit.edu	37	chr11	56310625	56310625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggttgcctagcagggtgaCgaggtaaacaaccagaaaca	15	5	12	9	1	0	2	0	1	0	1	0	3	0	2	2	3	5	3	2	3	5	3			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr11:56310625C>T	uc010rjl.2	-	0	109	c.109G>A	c.(109-111)Gtc>Atc	p.V37I	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						AGCAGGGTGACGAGGTAAACA	0.473													5	103					0	0	1	0	0	T	56310625	C	T	56310625	3	4	237	1	0	0	0	0	1	0	0	0	11174	536	19	1	811	1	OR5M11	11	56310625	Missense_Mutation	SNP	C	TCGA-HT-8113-01A-11D-2395-08		56310625	78695891	16	9909											
ZFPL1	7542	broad.mit.edu	37	chr11	64855417	64855417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggagccgggctgggtctcGgaagcggccgctgaccctgc	5	5	17	14	4	1	1	0	1	1	0	2	3	1	3	3	5	3	2	3	5	1	0			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr11:64855417G>A	uc001ocq.1	+	7	929	c.764G>A	c.(763-765)cGg>cAg	p.R255Q		NM_006782	NP_006773	O95159	ZFPL1_HUMAN	Homo sapiens zinc finger protein-like 1 (ZFPL1), mRNA.	255					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						GCTGGGTCTCGGAAGCGGCCG	0.697													12	73					0	0	1	0	0	A	64855417	G	A	64855417	3	1	237	1	0	0	0	0	1	0	0	0	17653	1116	39	2	790	2	ZFPL1	11	64855417	Missense_Mutation	SNP	G	TCGA-HT-8113-01A-11D-2395-08	8544792	64855417	70151099	17	9910											
SORL1	6653	broad.mit.edu	37	chr11	121358800	121358800	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtttgacttctgcaacacTcttcaaggcttttccatccc	8	14	5	14	1	3	1	1	1	2	0	5	1	5	1	2	1	2	3	2	1	2	5			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr11:121358800T>A	uc001pxx.3	+	3	717	c.588T>A	c.(586-588)acT>acA	p.T196T		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	196					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TCTGCAACACTCTTCAAGGCT	0.517													64	275					0	0	1	0	0	A	121358800	T	A	121358800	2	1	237	1	0	0	0	0	0	0	0	1	14934	1538	54	5		5	SORL1	11	121358800	Silent	SNP	T	TCGA-HT-8113-01A-11D-2395-08	56503383	121358800	13647716	18	9911											
ACACB	32	broad.mit.edu	37	chr12	109690903	109690903	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggtgtctcccacatcacCgtgccagatgactttgaggg	9	10	11	11	1	2	3	1	2	1	1	3	3	2	3	3	2	1	0	3	2	1	1			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr12:109690903C>T	uc001tob.3	+	42	6104	c.5985C>T	c.(5983-5985)acC>acT	p.T1995T	ACACB_uc001toc.3_Silent_p.T1995T|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Silent_p.T661T	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1995	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CCCACATCACCGTGCCAGATG	0.512													33	241					0	0	1	0	0	T	109690903	C	T	109690903	2	4	237	1	0	0	0	0	0	0	0	1	107	639	23	2		2	ACACB	12	109690903	Silent	SNP	C	TCGA-HT-8113-01A-11D-2395-08		109690903	24160992	19	9912											
LATS2	26524	broad.mit.edu	37	chr13	21557659	21557659	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggagtagtagagtttgAccacccactcattgtctgcc	10	10	11	10	0	2	2	1	1	1	1	2	4	2	4	3	2	1	3	3	2	3	4			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr13:21557659A>T	uc009zzs.3	-	4	2551	c.2186T>A	c.(2185-2187)gTc>gAc	p.V729D	LATS2_uc001unr.4_Missense_Mutation_p.V729D	NM_014572	NP_055387	Q9NRM7	LATS2_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 2 (Drosophila) (LATS2), mRNA.	729	Protein kinase.				G1/S transition of mitotic cell cycle|cell division|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GTAGAGTTTGACCACCCACTC	0.537													13	172					0	0	1	0	0	T	21557659	A	T	21557659	3	4	237	1	0	0	0	0	1	0	0	0	8647	275	10	5	1096	5	LATS2	13	21557659	Missense_Mutation	SNP	A	TCGA-HT-8113-01A-11D-2395-08		21557659	93612219	20	9913											
KIAA0284	283638	broad.mit.edu	37	chr14	105360916	105360916	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactgaggcgggtgcagaaaCagctggaaggtgagtgtggc	11	6	18	6	1	0	3	0	2	0	1	0	4	0	4	0	5	4	2	0	5	3	0			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr14:105360916C>A	uc001yps.3	+	16	4609	c.4303C>A	c.(4303-4305)Cag>Aag	p.Q1435K	KIAA0284_uc010axb.3_Missense_Mutation_p.Q1400K|KIAA0284_uc001ypt.3_Missense_Mutation_p.Q138K	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	1505						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		GGTGCAGAAACAGCTGGAAGG	0.617													3	28					0.115264	0.115264	1	1	0	A	105360916	C	A	105360916	3	1	237	1	0	0	0	0	1	0	0	0	8166	479	17	5	4474	5	KIAA0284	14	105360916	Missense_Mutation	SNP	C	TCGA-HT-8113-01A-11D-2395-08		105360916	1988624	21	9914											
IDH2	3418	broad.mit.edu	37	chr15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcgccatgggcgtgcCtgccaatggtgatgggcttg	4	10	16	11	2	0	1	0	1	0	0	1	1	0	1	4	4	2	1	4	4	1	1	rs121913503		TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr15:90631838C>T	uc002box.3	-	3	601	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_uc010uqb.2_Missense_Mutation_p.R120K|IDH2_uc010uqc.2_Missense_Mutation_p.R42K	NM_002168	NP_002159	P48735	IDHP_HUMAN	Homo sapiens isocitrate dehydrogenase 2 (NADP+), mitochondrial (IDH2), nuclear gene encoding mitochondrial protein, mRNA.	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding	p.R172K(358)|p.R172M(44)|p.R172S(18)|p.R172W(16)|p.R172?(13)|p.R172G(5)|p.G171D(4)|p.R172N(2)|p.R172L(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								15	66					0	0	1	0	0	T	90631838	C	T	90631838	3	4	237	1	0	0	0	0	1	0	0	0	7495	681	24	3	875	3	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-HT-8113-01A-11D-2395-08		90631838	11899554	22	9915											
C16orf62	57020	broad.mit.edu	37	chr16	19580757	19580757	+	Frame_Shift_Del	DEL	A	A	-																															tcctcacaggtcacagagtcAaagacaaagaaagtgaaccg																										TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr16:19580757delA	uc002dgn.2	+	2	444	c.129delA	c.(127-129)tcafs	p.S43fs	C16orf62_uc002dgo.2_Frame_Shift_Del_p.S132fs|C16orf62_uc010vas.2_Non-coding_Transcript|C16orf62_uc002dgm.2_Frame_Shift_Del_p.S132fs	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA.	43						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TCACAGAGTCAAAGACAAAGA	0.527													8	50	---	---	---	---						-	19580757	A	-	19580757	7	5	237	1	0	1	0	1	0	0	0	0	1825	117	5	0	139	0	C16orf62	16	19580757	Frame_Shift_Del	DEL	A	TCGA-HT-8113-01A-11D-2395-08		19580757	70773996	23	9916											
ARMC5	79798	broad.mit.edu	37	chr16	31470908	31470908	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcctcgcgcagctcgcggcGgcggccggggaggctctggg	2	5	20	14	7	1	0	0	0	1	0	3	1	1	1	2	7	2	3	2	7	0	0			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr16:31470908G>A	uc010vfn.2	+	2	472	c.348G>A	c.(346-348)gcG>gcA	p.A116A	ARMC5_uc010vfo.2_Silent_p.A53A|ARMC5_uc002ecc.3_Silent_p.A21A|ARMC5_uc002eca.4_Silent_p.A21A|ARMC5_uc002ecb.2_Silent_p.A21A|ARMC5_uc010vfp.2_Silent_p.A21A	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.	21							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AGCTCGCGGCGGCGGCCGGGG	0.711													3	16					0	0	1	0	0	A	31470908	G	A	31470908	2	1	237	1	0	0	0	0	0	0	0	1	954	1103	39	2		2	ARMC5	16	31470908	Silent	SNP	G	TCGA-HT-8113-01A-11D-2395-08	11890151	31470908	58883845	24	9917											
TAF1C	9013	broad.mit.edu	37	chr16	84213255	84213255	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcagccactggctgcagccGgcagtgtcctgggaggtcca	6	8	14	13	1	1	0	1	0	0	0	3	1	3	1	4	4	3	3	4	4	0	1	rs145273391		TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr16:84213255G>A	uc002fhn.3	-	13	2144	c.1902C>T	c.(1900-1902)gcC>gcT	p.A634A	TAF1C_uc010vnz.2_Silent_p.A302A|TAF1C_uc002fho.3_Silent_p.A157A|TAF1C_uc010voa.2_Silent_p.A302A|TAF1C_uc002fhm.3_Silent_p.A540A|TAF1C_uc010vnx.2_Silent_p.A608A|TAF1C_uc010vny.2_Silent_p.A225A	NM_005679	NP_001230088	Q15572	TAF1C_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa (TAF1C), transcript variant 1, mRNA.	634					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GGCTGCAGCCGGCAGTGTCCT	0.662													4	37					0	0	1	0	0	A	84213255	G	A	84213255	2	1	237	1	0	0	0	0	0	0	0	1	15518	1103	39	2		2	TAF1C	16	84213255	Silent	SNP	G	TCGA-HT-8113-01A-11D-2395-08	52742347	84213255	6141498	25	9918											
KRTAP4-7	100132476	broad.mit.edu	37	chr17	39240511	39240511	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccagggctgcagccaagAcctctgtcaggagacctgct	9	7	12	13	0	2	3	1	1	1	2	2	4	2	3	4	2	3	3	4	2	1	0	rs383835	by1000genomes	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr17:39240511A>T	uc010wfn.2	+	0	53	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_033061	NP_149050			Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA.											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						TGCAGCCAAGACCTCTGTCAG	0.612													5	27					0	0	1	0	0	T	39240511	A	T	39240511	3	4	237	1	0	0	0	0	1	0	0	0	8555	275	10	5	55	5	KRTAP4-7	17	39240511	Missense_Mutation	SNP	A	TCGA-HT-8113-01A-11D-2395-08		39240511	41954699	26	9919											
ZNF177	7730	broad.mit.edu	37	chr19	9492389	9492389	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattcagtgtgaaaaagcctTtagcacaagcactaacctta	15	11	6	9	0	1	1	1	1	0	0	1	1	1	1	2	0	4	2	2	0	7	6			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr19:9492389T>G	uc021uon.1	+	5	1543	c.1382T>G	c.(1381-1383)tTt>tGt	p.F461C	ZNF177_uc002mli.3_Missense_Mutation_p.F301C|ZNF177_uc002mlj.3_3'UTR|ZNF177_uc002mlk.3_Missense_Mutation_p.F301C	NM_001172651	NP_001166122	Q13360	ZN177_HUMAN	Homo sapiens zinc finger protein 177 (ZNF177), transcript variant 1, mRNA.	301					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						GAAAAAGCCTTTAGCACAAGC	0.448													32	151					0	0	1	0	0	G	9492389	T	G	9492389	3	3	237	1	0	0	0	0	1	0	0	0	17743	1841	64	5	1400	5	ZNF177	19	9492389	Missense_Mutation	SNP	T	TCGA-HT-8113-01A-11D-2395-08		9492389	49636594	27	9920											
KCNK6	9424	broad.mit.edu	37	chr19	38817239	38817239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctttactcccctaggctatgGgtacacaacgccactgactg	9	10	8	14	1	0	1	0	1	0	0	1	1	1	1	3	2	3	2	3	2	5	5			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr19:38817239G>A	uc002oic.3	+	1	436	c.329G>A	c.(328-330)gGg>gAg	p.G110E	KCNK6_uc002oid.3_5'UTR	NM_004823	NP_004814	Q9Y257	KCNK6_HUMAN	Homo sapiens potassium channel, subfamily K, member 6 (KCNK6), mRNA.	110						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CTAGGCTATGGGTACACAACG	0.572													8	134					0	0	1	0	0	A	38817239	G	A	38817239	3	1	237	1	0	0	0	0	1	0	0	0	8070	1232	43	3	335	3	KCNK6	19	38817239	Missense_Mutation	SNP	G	TCGA-HT-8113-01A-11D-2395-08	29324850	38817239	20311744	28	9921											
C19orf48	84798	broad.mit.edu	37	chr19	51301519	51301519	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggggtggctcctcccctaGcctgcaggaagcccttggta	5	8	14	14	1	0	0	0	0	0	0	2	1	2	1	5	5	3	3	5	5	3	3	rs144495841	byFrequency	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr19:51301519G>C	uc002ptf.3	-	4	1109	c.187C>G	c.(187-189)Cta>Gta	p.L63V	C19orf48_uc002pte.3_Non-coding_Transcript|C19orf48_uc002ptg.3_Missense_Mutation_p.L63V|C19orf48_uc021uyh.1_Missense_Mutation_p.L63V	NM_199249	NP_954858	Q6RUI8	CS048_HUMAN	Homo sapiens chromosome 19 open reading frame 48 (C19orf48), mRNA.	63										endometrium(1)|kidney(1)|lung(1)|ovary(1)	4		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)		TCCTCCCCTAGCCTGCAGGAA	0.617													6	122					0	0	1	0	0	C	51301519	G	C	51301519	3	2	237	1	0	0	0	0	1	0	0	0	1931	962	34	5	170	5	C19orf48	19	51301519	Missense_Mutation	SNP	G	TCGA-HT-8113-01A-11D-2395-08	12484280	51301519	7827464	29	9922											
WNK3	65267	broad.mit.edu	37	chrX	54335536	54335536	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactttaatcaccaatgacaCtcttagcaaatgaggtacgc	15	10	6	10	1	2	2	1	2	1	0	2	2	2	2	1	1	3	2	1	1	6	4			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chrX:54335536C>A	uc004dtc.2	-	3	1362	c.923G>T	c.(922-924)aGt>aTt	p.S308I	WNK3_uc004dtd.2_Missense_Mutation_p.S308I	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	308	Protein kinase.				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						ACCAATGACACTCTTAGCAAA	0.413													16	48					9.16793e-09	9.72695e-09	1	1	0	A	54335536	C	A	54335536	3	1	237	1	0	0	0	0	1	0	0	0	17376	565	20	5	4563	5	WNK3	23	54335536	Missense_Mutation	SNP	C	TCGA-HT-8113-01A-11D-2395-08		54335536	100935024	30	9923											
SAMD13	148418	broad.mit.edu	37	chr1	84764244	84764244	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacctcccggcgcggccatgCggggaggtaagtgatctgcc	7	6	15	13	4	1	1	0	1	1	0	2	2	2	2	4	5	3	1	4	5	2	1			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr1:84764244C>T	uc001djr.3	+	0	196	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W		NM_001010971	NP_001128136	Q5VXD3	SAM13_HUMAN	Homo sapiens sterile alpha motif domain containing 13 (SAMD13), transcript variant 1, mRNA.	0										lung(4)	4				all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136)		CGCGGCCATGCGGGGAGGTAA	0.706													2	3					0	0	1	0	0	T	84764244	C	T	84764244	3	4	238	1	0	0	0	0	1	0	0	0	13818	759	27	1	6	1	SAMD13	1	84764244	Missense_Mutation	SNP	C	TCGA-HT-8114-01A-11D-2395-08		84764244	164486377	1	9924											
C1D	10438	broad.mit.edu	37	chr2	68270036	68270036	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagttaacttttacttttTcctttattggcaacttttga	11	20	4	6	0	0	1	0	1	0	0	1	1	1	1	1	1	3	2	1	1	6	10			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr2:68270036T>G	uc002sea.4	-	4	493	c.411A>C	c.(409-411)ggA>ggC	p.G137G	C1D_uc010fdc.3_Silent_p.G137G|C1D_uc021viu.1_Silent_p.G137G|C1D_uc002sec.3_Silent_p.G137G|C1D_uc002seb.3_Silent_p.G137G	NM_173177	NP_775269	Q13901	C1D_HUMAN	Homo sapiens C1D nuclear receptor corepressor (C1D), transcript variant 2, mRNA.	137	Interaction with NCOR1 and NCOR2 (By similarity).				apoptosis|maturation of 5.8S rRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear exosome (RNase complex)|nucleolus	DNA binding|RNA binding			lung(2)|urinary_tract(1)	3						TTTTACTTTTTCCTTTATTGG	0.423													4	8					0	0	1	0	0	G	68270036	T	G	68270036	2	3	238	1	0	0	0	0	0	0	0	1	1951	1770	62	5		5	C1D	2	68270036	Silent	SNP	T	TCGA-HT-8114-01A-11D-2395-08		68270036	174929337	2	9925											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								42	47					0	0	1	0	0	T	209113112	C	T	209113112	3	4	238	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8114-01A-11D-2395-08	140843076	209113112	34086261	3	9926											
PCDH12	51294	broad.mit.edu	37	chr5	141325159	141325159	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcagcatctccagcagtgaGctcatctccgagacaaaggt	12	7	10	12	1	3	2	1	1	2	1	5	3	3	2	2	1	4	4	2	1	1	0			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr5:141325159G>C	uc003llx.3	-	3	4553	c.3342C>G	c.(3340-3342)agC>agG	p.S1114R		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	1114					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGCAGTGAGCTCATCTCCG	0.662													5	44					0	0	1	0	0	C	141325159	G	C	141325159	3	2	238	1	0	0	0	0	1	0	0	0	11510	962	34	5	216	5	PCDH12	5	141325159	Missense_Mutation	SNP	G	TCGA-HT-8114-01A-11D-2395-08		141325159	39590101	4	9927											
FAT2	2196	broad.mit.edu	37	chr5	150932869	150932869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggccagagggatggaggacGgccggggccaagggatccac	10	2	19	10	2	0	1	0	0	0	1	1	5	1	5	4	8	0	0	4	8	1	0			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr5:150932869G>A	uc003lue.4	-	4	4038	c.4025C>T	c.(4024-4026)cCg>cTg	p.P1342L		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1342	Cadherin 11.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATGGAGGACGGCCGGGGCCA	0.582													21	50					0	0	1	0	0	A	150932869	G	A	150932869	3	1	238	1	0	0	0	0	1	0	0	0	5690	1116	39	2	9100	2	FAT2	5	150932869	Missense_Mutation	SNP	G	TCGA-HT-8114-01A-11D-2395-08	9607710	150932869	29982391	5	9928											
BCLAF1	9774	broad.mit.edu	37	chr6	136597485	136597486	+	Frame_Shift_Del	DEL	TT	TT	-																															ccccttctgaatcattaaacTtttgttttccagactcttta																										TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr6:136597485_136597486delTT	uc003qgx.1	-	4	1430_1431	c.1177_1178delAA	c.(1177-1179)aagfs	p.K393fs	BCLAF1_uc003qgy.1_Frame_Shift_Del_p.K391fs|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Frame_Shift_Del_p.K391fs|BCLAF1_uc003qgw.1_Intron	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	393					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ATCATTAAACTTTTGTTTTCCA	0.436													11	574	---	---	---	---						-	136597486	TT	-	136597485	7	5	238	1	0	1	0	1	0	0	0	0	1383	1609	56	0	1620	0	BCLAF1	6	136597485	Frame_Shift_Del	DEL	TT	TCGA-HT-8114-01A-11D-2395-08		136597485	34517582	6	9929											
MAP7	9053	broad.mit.edu	37	chr6	136682203	136682203	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgctcctccgcctgccgCtgcagctgctcctccttctc	1	10	8	22	3	1	0	0	0	1	0	6	0	5	0	7	0	4	5	7	0	0	1			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr6:136682203C>T	uc011edg.2	-	11	1980	c.1731G>A	c.(1729-1731)caG>caA	p.Q577Q	MAP7_uc011edf.2_Silent_p.Q532Q|MAP7_uc010kgu.3_Silent_p.Q569Q|MAP7_uc011edh.2_Silent_p.Q532Q|MAP7_uc010kgv.3_Silent_p.Q569Q|MAP7_uc010kgs.3_Silent_p.Q401Q|MAP7_uc011edi.2_Silent_p.Q401Q|MAP7_uc010kgq.2_Silent_p.Q453Q|MAP7_uc003qgz.3_Silent_p.Q547Q|MAP7_uc003qha.2_Silent_p.Q510Q	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN	Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.	547					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CCGCCTGCCGCTGCAGCTGCT	0.731													10	6					0	0	1	0	0	T	136682203	C	T	136682203	2	4	238	1	0	0	0	0	0	0	0	1	9266	796	28	3		3	MAP7	6	136682203	Silent	SNP	C	TCGA-HT-8114-01A-11D-2395-08	84718	136682203	34432864	7	9930											
ATAD2	29028	broad.mit.edu	37	chr8	124351613	124351613	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaattaaatcttcaaaaaatTttgtccgttcttctttatcc	12	18	3	8	1	4	0	1	0	3	0	6	1	6	0	2	0	0	1	2	0	7	8			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr8:124351613T>C	uc003yqh.4	-	19	2900	c.2792A>G	c.(2791-2793)aAa>aGa	p.K931R	ATAD2_uc011lii.2_Missense_Mutation_p.K722R|ATAD2_uc003yqi.4_Non-coding_Transcript	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	931					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TTCAAAAAATTTTGTCCGTTC	0.274													11	24					0	0	1	0	0	C	124351613	T	C	124351613	3	2	238	1	0	0	0	0	1	0	0	0	1071	1841	64	3	1416	3	ATAD2	8	124351613	Missense_Mutation	SNP	T	TCGA-HT-8114-01A-11D-2395-08		124351613	22012409	8	9931											
AGAP6	414189	broad.mit.edu	37	chr10	51769670	51769670	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagctgctgcgggccacCgctgatgaggacctgcagac	8	5	14	14	2	0	3	0	2	0	1	0	4	0	4	3	2	5	5	3	2	0	0			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr10:51769670C>T	uc001jix.4	+	7	2183	c.1785C>T	c.(1783-1785)acC>acT	p.T595T	DQ577099_uc021pqm.1_5'Flank	NM_001077665	NP_001071133	C9IYN2	C9IYN2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 (AGAP6), mRNA.	595					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.T595T(2)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						TGCGGGCCACCGCTGATGAGG	0.627													7	116					0	0	1	0	0	T	51769670	C	T	51769670	2	4	238	1	0	0	0	0	0	0	0	1	372	639	23	2		2	AGAP6	10	51769670	Silent	SNP	C	TCGA-HT-8114-01A-11D-2395-08		51769670	83765077	9	9932											
ROM1	6094	broad.mit.edu	37	chr11	62380964	62380964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgccctggcagcgggcGcggtggctctgggcacagga	5	5	19	12	3	1	0	0	0	1	0	1	1	1	1	1	7	2	4	1	7	0	0			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr11:62380964G>A	uc001ntv.3	+	0	752	c.211G>A	c.(211-213)Gcg>Acg	p.A71T	EML3_uc001ntr.1_5'Flank|EML3_uc001nts.1_5'Flank|EML3_uc001ntt.1_5'Flank|EML3_uc001ntu.1_5'Flank|EML3_uc010rly.1_5'Flank|EML3_uc009yny.1_5'Flank	NM_000327	NP_000318	Q03395	ROM1_HUMAN	Homo sapiens retinal outer segment membrane protein 1 (ROM1), mRNA.	71					cell adhesion|visual perception	integral to plasma membrane				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						GGCAGCGGGCGCGGTGGCTCT	0.667													5	26					0	0	1	0	0	A	62380964	G	A	62380964	3	1	238	1	0	0	0	0	1	0	0	0	13521	1087	38	1	213	1	ROM1	11	62380964	Missense_Mutation	SNP	G	TCGA-HT-8114-01A-11D-2395-08		62380964	72625552	10	9933											
SRPR	6734	broad.mit.edu	37	chr11	126134414	126134414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgtgtccaccagcaccaCgtcaaagccttggttacgtg	8	9	10	14	3	1	0	1	0	0	0	2	0	2	0	5	1	4	2	5	1	2	2			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr11:126134414C>T	uc001qdh.3	-	11	1724	c.1546G>A	c.(1546-1548)Gtg>Atg	p.V516M	SRPR_uc010sbm.2_Missense_Mutation_p.V488M	NM_003139	NP_003130	P08240	SRPR_HUMAN	Homo sapiens signal recognition particle receptor (docking protein) (SRPR), transcript variant 1, mRNA.	516					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	p.D515E(1)		endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		ACCAGCACCACGTCAAAGCCT	0.507													7	58					0	0	1	0	0	T	126134414	C	T	126134414	3	4	238	1	0	0	0	0	1	0	0	0	15161	536	19	1	382	1	SRPR	11	126134414	Missense_Mutation	SNP	C	TCGA-HT-8114-01A-11D-2395-08	63753450	126134414	8872102	11	9934											
GAS6	2621	broad.mit.edu	37	chr13	114531664	114531664	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttgatgaccagattccgCgccagctcctcaacagagat	11	8	8	14	2	1	4	1	2	0	2	3	5	3	4	5	0	2	1	5	0	1	2			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr13:114531664C>T	uc001vug.3	-	2	1319	c.267G>A	c.(265-267)gcG>gcA	p.A89A	GAS6_uc001vud.3_Silent_p.A388A|GAS6_uc001vuf.3_Silent_p.A115A	NM_001143946	NP_001137418	Q14393	GAS6_HUMAN	Homo sapiens growth arrest-specific 6 (GAS6), transcript variant 3, mRNA.	431	Gla.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	Golgi lumen|endoplasmic reticulum lumen|extracellular space|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CCAGATTCCGCGCCAGCTCCT	0.537													13	71					0	0	1	0	0	T	114531664	C	T	114531664	2	4	238	1	0	0	0	0	0	0	0	1	6249	755	27	1		1	GAS6	13	114531664	Silent	SNP	C	TCGA-HT-8114-01A-11D-2395-08		114531664	638214	12	9935											
ZC3H14	79882	broad.mit.edu	37	chr14	89044401	89044401	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaattgctagcagaagtggTccagggacaaagtaggaccc	14	6	13	8	0	0	2	0	0	0	2	1	4	1	4	2	3	2	3	2	3	5	3			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr14:89044401T>C	uc001xww.3	+	8	1421	c.1196T>C	c.(1195-1197)gTc>gCc	p.V399A	ZC3H14_uc010twd.2_Missense_Mutation_p.V399A|ZC3H14_uc010twe.2_Missense_Mutation_p.V399A|ZC3H14_uc001xwx.3_Missense_Mutation_p.V399A|ZC3H14_uc010twf.2_Missense_Mutation_p.V244A|ZC3H14_uc001xwy.3_Missense_Mutation_p.V365A|ZC3H14_uc010twg.2_Missense_Mutation_p.V244A|ZC3H14_uc001xxa.3_5'UTR	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	Homo sapiens zinc finger CCCH-type containing 14 (ZC3H14), transcript variant 1, mRNA.	399						cytoplasm|nuclear speck	RNA binding|protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GCAGAAGTGGTCCAGGGACAA	0.388													27	73					0	0	1	0	0	C	89044401	T	C	89044401	3	2	238	1	0	0	0	0	1	0	0	0	17563	1667	58	3	1230	3	ZC3H14	14	89044401	Missense_Mutation	SNP	T	TCGA-HT-8114-01A-11D-2395-08		89044401	18305139	13	9936											
TP53	7157	broad.mit.edu	37	chr17	7578291	7578291	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctgaggaggggccagaccTaagagcaatcagtgaggaat	13	6	15	7	0	1	4	1	2	0	2	1	6	1	6	2	4	2	2	2	4	3	1			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr17:7578291T>C	uc002gim.2	-	6	754	c.560_splice	c.e6-1	p.G187_splice	TP53_uc002gig.1_Splice_Site_p.G187_splice|TP53_uc002gih.3_Splice_Site_p.G187_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Splice_Site_p.G55_splice|TP53_uc010cnf.1_Splice_Site_p.G55_splice|TP53_uc002gii.1_Splice_Site_p.G55_splice|TP53_uc010cni.1_Splice_Site_p.G187_splice|TP53_uc010cnh.1_Splice_Site_p.G187_splice|TP53_uc002gij.2_Splice_Site_p.G187_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Splice_Site_p.G94_splice|TP53_uc002gio.2_Splice_Site_p.G55_splice|TP53_uc010vug.2_Intron	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	187	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		G -> C (in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(16)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)		GGGCCAGACCTAAGAGCAATC	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	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)			28	16					0	0	1	0	0	C	7578291	T	C	7578291	5	2	238	1	0	0	0	0	0	0	1	0	16378	1536	53	4	736	4	TP53	17	7578291	Splice_Site	SNP	T	TCGA-HT-8114-01A-11D-2395-08		7578291	73616919	14	9937			1	26		2	2	104	T		7.319619e-05
TP53	7157	broad.mit.edu	37	chr17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctatctgagcagcgctcaTggtgggggcagcgcctcaca	7	7	14	13	3	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	1	1			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr17:7578394T>C	uc002gim.2	-	4	730	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_uc002gig.1_Missense_Mutation_p.H179R|TP53_uc002gih.3_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.2_Missense_Mutation_p.H140R	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.H179R(214)|p.H179Y(90)|p.H179L(78)|p.H179Q(19)|p.P177_C182delPHHERC(16)|p.H178fs*69(15)|p.H179N(14)|p.H179D(11)|p.H178Y(8)|p.0?(8)|p.C176_R181delCPHHER(6)|p.H179P(6)|p.H178fs*3(6)|p.H178P(6)|p.R175_E180delRCPHHE(6)|p.H178Q(5)|p.H178D(5)|p.H178_S183delHHERCS(4)|p.H47L(4)|p.H86L(4)|p.H179fs*68(3)|p.R174fs*24(3)|p.H178N(3)|p.P177_H179delPHH(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.H86R(2)|p.H178fs*6(2)|p.P177_E180delPHHE(2)|p.H47R(2)|p.R174fs*1(2)|p.H178H(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.H179fs*?(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.H179del(1)|p.H178L(1)|p.R175_H178>X(1)|p.P177_C182del(1)|p.R81fs*24(1)|p.H178del(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(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)		GCAGCGCTCATGGTGGGGGCA	0.642		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)			10	56					0	0	1	0	0	C	7578394	T	C	7578394	3	2	238	1	0	0	0	0	1	0	0	0	16378	1464	51	3	762	3	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-HT-8114-01A-11D-2395-08	103	7578394	73616816	15	9938			1	26		2	2	104	T		7.319619e-05
ZNF235	9310	broad.mit.edu	37	chr19	44793178	44793178	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacttgacagggggaatcaTggtgcttggggaactgagag	10	8	16	7	0	1	2	1	2	0	1	1	5	1	4	1	5	2	1	1	5	2	2			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr19:44793178T>C	uc002oza.4	-	4	513	c.410A>G	c.(409-411)cAt>cGt	p.H137R	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF235_uc002ozb.4_Missense_Mutation_p.H133R	NM_004234	NP_004225	Q14590	ZN235_HUMAN	Homo sapiens zinc finger protein 235 (ZNF235), mRNA.	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				GGGGGAATCATGGTGCTTGGG	0.438													9	113					0	0	1	0	0	C	44793178	T	C	44793178	3	2	238	1	0	0	0	0	1	0	0	0	17785	1464	51	3	1810	3	ZNF235	19	44793178	Missense_Mutation	SNP	T	TCGA-HT-8114-01A-11D-2395-08		44793178	14335805	16	9939											
PRNP	5621	broad.mit.edu	37	chr20	4680251	4680251	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggggccttggcggctacAtgctgggaagtgccatgagc	6	8	18	9	1	0	1	0	1	0	0	0	2	0	2	2	6	4	2	2	6	2	2	rs1799990	byFrequency	TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr20:4680251A>G	uc021wae.1	+	0	385	c.385A>G	c.(385-387)Atg>Gtg	p.M129V	PRNP_uc002wkt.1_Missense_Mutation_p.M99V|PRNP_uc002wku.3_Missense_Mutation_p.M129V|PRNP_uc002wkv.3_Missense_Mutation_p.M129V|PRNP_uc002wkw.3_Missense_Mutation_p.M129V|PRNP_uc002wkx.3_Missense_Mutation_p.M129V|PRNP_uc002wky.3_Missense_Mutation_p.M129V|PRNP_uc010gbe.1_Missense_Mutation_p.M129V	NM_183079	NP_898902	P04156	PRIO_HUMAN	Homo sapiens prion protein (PRNP), transcript variant 2, mRNA.	129	Interaction with GRB2, ERI3 and SYN1 (By similarity).		M -> V (polymorphism; determines the disease phenotype in patients who have a PrP mutation at position 178. Patients with M-129 develop FFI, those with V-129 develop CJD; dbSNP:rs1799990).		axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of T cell receptor signaling pathway|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|protein homooligomerization|response to oxidative stress	Golgi apparatus|anchored to membrane|endoplasmic reticulum|extrinsic to membrane|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding	p.M129V(4)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14					Tetracycline(DB00759)	TGGCGGCTACATGCTGGGAAG	0.547													6	79					0	0	1	0	0	G	4680251	A	G	4680251	3	3	238	1	0	0	0	0	1	0	0	0	12544	217	8	3	387	3	PRNP	20	4680251	Missense_Mutation	SNP	A	TCGA-HT-8114-01A-11D-2395-08		4680251	58345269	17	9940											
ITSN1	6453	broad.mit.edu	37	chr21	35183494	35183494	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctcttcagagccctccacGacccctaataactgggccga	10	7	7	17	2	2	1	1	0	1	1	3	3	3	1	6	1	2	0	6	1	2	3			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr21:35183494G>A	uc002yta.1	+	20	2803	c.2535G>A	c.(2533-2535)acG>acA	p.T845T	DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_Silent_p.T724T|ITSN1_uc002ysy.3_Silent_p.T840T|ITSN1_uc002ysx.3_Silent_p.T803T|ITSN1_uc002yth.4_Non-coding_Transcript|ITSN1_uc002ysz.3_Silent_p.T840T|ITSN1_uc010gmg.3_Silent_p.T803T|ITSN1_uc010gmh.3_Non-coding_Transcript|ITSN1_uc002ysw.3_Silent_p.T845T|ITSN1_uc010gmi.3_Silent_p.T808T|ITSN1_uc002ytb.1_Silent_p.T840T|ITSN1_uc002ytc.1_Silent_p.T840T|ITSN1_uc010gmk.3_Silent_p.T808T|ITSN1_uc010gml.3_Non-coding_Transcript|ITSN1_uc002ytd.3_Non-coding_Transcript|ITSN1_uc002ytj.2_Silent_p.T840T|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002yte.3_Silent_p.T779T|ITSN1_uc021wip.1_Silent_p.T734T|ITSN1_uc002ytf.1_Non-coding_Transcript	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	845					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGCCCTCCACGACCCCTAATA	0.547													10	102					0	0	1	0	0	A	35183494	G	A	35183494	2	1	238	1	0	0	0	0	0	0	0	1	7926	1045	37	2		2	ITSN1	21	35183494	Silent	SNP	G	TCGA-HT-8114-01A-11D-2395-08		35183494	12946401	18	9941											
NAP1L2	4674	broad.mit.edu	37	chrX	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-																															ctccagtagcctcaatgtcgTcctcctcctcctcctcctcc																										TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chrX:72433664_72433666delTCC	uc004ebi.3	-	0	1045_1047	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	221	Glu-rich (acidic).				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)					CTCAATGTCGtcctcctcctcct	0.424													7	42	---	---	---	---						-	72433666	TCC	-	72433664	7	5	238	1	0	1	0	1	0	0	0	0	10157	1667	58	0	721	0	NAP1L2	23	72433664	In_Frame_Del	DEL	TCC	TCGA-HT-8114-01A-11D-2395-08		72433664	82836896	19	9942											
ATRX	546	broad.mit.edu	37	chrX	76937602	76937603	+	Frame_Shift_Ins	INS	-	-	T																															tttagaagttttatctcttaINStttttttacttttcttttct																										TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chrX:76937602_76937603insT	uc004ecp.4	-	8	3377_3378	c.3145_3146insA	c.(3145-3147)atafs	p.I1049fs	ATRX_uc004ecq.4_Frame_Shift_Ins_p.I1011fs|ATRX_uc004eco.4_Frame_Shift_Ins_p.I834fs|ATRX_uc004ecr.2_Frame_Shift_Ins_p.I981fs|ATRX_uc010nlx.1_Frame_Shift_Ins_p.I1020fs|ATRX_uc010nly.1_Frame_Shift_Ins_p.I994fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1049					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.I1049fs*4(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTTATCTCTTATTTTTTTACTT	0.327			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						36	45	---	---	---	---						T	76937603	-	T	76937602	7	5	238	1	0	1	1	0	0	0	0	0	1208	449	16	0	4440	0	ATRX	23	76937602	Frame_Shift_Ins	INS	-	TCGA-HT-8114-01A-11D-2395-08	4503938	76937602	78332958	20	9943											
ATRX	546	broad.mit.edu	37	chrX	76938089	76938092	+	Frame_Shift_Del	DEL	TCTC	TCTC	-																															gccttctgctgaagagaaagTctctctctcttgttttcttt																								rs141180098		TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chrX:76938089_76938092delTCTC	uc004ecp.4	-	8	2888_2891	c.2656_2659delGAGA	c.(2656-2661)gagactfs	p.E886fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.E848fs|ATRX_uc004eco.4_Frame_Shift_Del_p.E671fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.E818fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.E857fs|ATRX_uc010nly.1_Frame_Shift_Del_p.E831fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	886					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.E886fs*18(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GAAGAGAAAGTCTCTCTCTCTTGT	0.412			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						25	208	---	---	---	---						-	76938092	TCTC	-	76938089	7	5	238	1	0	1	0	1	0	0	0	0	1208	1667	58	0	4927	0	ATRX	23	76938089	Frame_Shift_Del	DEL	TCTC	TCGA-HT-8114-01A-11D-2395-08	487	76938089	78332471	21	9944											
HDX	139324	broad.mit.edu	37	chrX	83724060	83724060	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgacctttgaatcccaactGgttcaattttacaaggtcgg	11	13	8	9	1	1	2	1	2	0	0	3	2	2	2	2	3	2	1	2	3	5	4			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chrX:83724060G>T	uc011mqv.2	-	3	918	c.671C>A	c.(670-672)cCa>cAa	p.P224Q	HDX_uc004eel.2_Missense_Mutation_p.P166Q|HDX_uc004eek.2_Missense_Mutation_p.P224Q	NM_001177479	NP_001170949	Q7Z353	HDX_HUMAN	Homo sapiens highly divergent homeobox (HDX), transcript variant 1, mRNA.	224						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P224P(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AATCCCAACTGGTTCAATTTT	0.413													10	81					3.86212e-05	4.11129e-05	1	1	0	T	83724060	G	T	83724060	3	4	238	1	0	0	0	0	1	0	0	0	7026	1348	47	5	1433	5	HDX	23	83724060	Missense_Mutation	SNP	G	TCGA-HT-8114-01A-11D-2395-08	6785971	83724060	71546500	22	9945											
MRPS9	64965	broad.mit.edu	37	chr2	105708997	105708997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaacctgtacagtatgatGagcaaggaatggcctttagc	12	11	11	7	0	0	3	0	3	0	0	0	4	0	4	2	2	4	3	2	2	6	5	rs147161518	byFrequency	TCGA-HT-8558-01A-21D-2395-08	TCGA-HT-8558-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39730eb2-7516-40fe-9d21-c44df7ac4c82	2c877cd5-7754-43f2-9b8e-d7179110ee18	g.chr2:105708997G>A	uc002tcn.4	+	7	858	c.790G>A	c.(790-792)Gag>Aag	p.E264K		NM_182640	NP_872578	P82933	RT09_HUMAN	Homo sapiens mitochondrial ribosomal protein S9 (MRPS9), nuclear gene encoding mitochondrial protein, mRNA.	264					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						ACAGTATGATGAGCAAGGAAT	0.368													4	62					0	0	1	0	0	A	105708997	G	A	105708997	3	1	239	1	0	0	0	0	1	0	0	0	9849	1291	45	3	820	3	MRPS9	2	105708997	Missense_Mutation	SNP	G	TCGA-HT-8558-01A-21D-2395-08		105708997	137490376	1	9946											
EML5	161436	broad.mit.edu	37	chr14	89154773	89154773	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacatcattgtgtcattttTccccagtgtgcctatgtagc	8	15	7	11	0	2	0	2	0	0	0	3	0	3	0	3	0	2	1	3	0	2	5			TCGA-HT-8558-01A-21D-2395-08	TCGA-HT-8558-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39730eb2-7516-40fe-9d21-c44df7ac4c82	2c877cd5-7754-43f2-9b8e-d7179110ee18	g.chr14:89154773T>C	uc021ryf.1	-	17	2833	c.2584A>G	c.(2584-2586)Aaa>Gaa	p.K862E	EML5_uc021ryg.1_Missense_Mutation_p.K862E|EML5_uc001xxh.1_Intron	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	862						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GTGTCATTTTTCCCCAGTGTG	0.388													10	174					0	0	1	0	0	C	89154773	T	C	89154773	3	2	239	1	0	0	0	0	1	0	0	0	5100	1792	62	3	3453	3	EML5	14	89154773	Missense_Mutation	SNP	T	TCGA-HT-8558-01A-21D-2395-08		89154773	18194767	2	9947											
ZNF682	91120	broad.mit.edu	37	chr19	20117231	20117231	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctccgctatgaattacCttatgttcagtaagaattga	11	16	6	8	1	2	3	1	2	1	1	4	3	3	3	2	0	1	3	2	0	6	7			TCGA-HT-8558-01A-21D-2395-08	TCGA-HT-8558-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39730eb2-7516-40fe-9d21-c44df7ac4c82	2c877cd5-7754-43f2-9b8e-d7179110ee18	g.chr19:20117231C>G	uc002noq.3	-	3	1203	c.1080G>C	c.(1078-1080)aaG>aaC	p.K360N	ZNF682_uc002noo.3_Missense_Mutation_p.K328N|ZNF682_uc002nop.3_Missense_Mutation_p.K328N|ZNF682_uc010eck.3_Missense_Mutation_p.K284N	NM_033196	NP_001070817	O95780	ZN682_HUMAN	Homo sapiens zinc finger protein 682 (ZNF682), transcript variant 1, mRNA.	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TATGAATTACCTTATGTTCAG	0.363													5	37					0	0	1	0	0	G	20117231	C	G	20117231	3	3	239	1	0	0	0	0	1	0	0	0	18086	680	24	5	420	5	ZNF682	19	20117231	Missense_Mutation	SNP	C	TCGA-HT-8558-01A-21D-2395-08		20117231	39011752	3	9948											
SLC44A5	204962	broad.mit.edu	37	chr1	75685524	75685524	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaatgcagattgagagcAaaatgaaagttaaagctgga	19	7	11	4	0	0	3	0	2	0	2	0	5	0	4	0	1	4	5	0	1	6	2			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr1:75685524A>G	uc010oqz.1	-	13	1322	c.1256T>C	c.(1255-1257)tTg>tCg	p.L419S	SLC44A5_uc001dgt.2_Missense_Mutation_p.L380S|SLC44A5_uc001dgs.2_Missense_Mutation_p.L338S|SLC44A5_uc001dgr.2_Missense_Mutation_p.L338S|SLC44A5_uc001dgu.3_Missense_Mutation_p.L380S|SLC44A5_uc010ora.2_Missense_Mutation_p.L374S|SLC44A5_uc010orb.2_Missense_Mutation_p.L250S	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	380						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GATTGAGAGCAAAATGAAAGT	0.368													7	35					0	0	1	0	0	G	75685524	A	G	75685524	3	3	240	1	0	0	0	0	1	0	0	0	14639	131	5	3	1171	3	SLC44A5	1	75685524	Missense_Mutation	SNP	A	TCGA-HT-8563-01A-11D-2395-08		75685524	173565097	1	9949											
ST6GALNAC3	256435	broad.mit.edu	37	chr1	77093225	77093225	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattcacgtctacgggatgAtaaatgacacctactgcaag	13	9	9	10	2	2	2	1	2	1	0	2	3	2	3	1	1	3	2	1	1	5	4			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr1:77093225A>T	uc001dhh.2	+	3	875	c.712A>T	c.(712-714)Ata>Tta	p.I238L	ST6GALNAC3_uc010orh.1_Intron	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 (ST6GALNAC3), transcript variant 1, mRNA.	238					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						CTACGGGATGATAAATGACAC	0.413													36	148					0	0	1	0	0	T	77093225	A	T	77093225	3	4	240	1	0	0	0	0	1	0	0	0	15224	333	12	5	740	5	ST6GALNAC3	1	77093225	Missense_Mutation	SNP	A	TCGA-HT-8563-01A-11D-2395-08	1407701	77093225	172157396	2	9950											
OLFML2B	25903	broad.mit.edu	37	chr1	161967933	161967933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccactgaggcatggttggCgatgctgggatctgaggtcg	6	10	16	9	2	1	2	0	2	1	0	3	4	2	3	1	5	1	3	1	5	0	1			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr1:161967933C>T	uc010pkq.2	-	5	1583	c.1159G>A	c.(1159-1161)Gcc>Acc	p.A387T	OLFML2B_uc001gbu.3_Missense_Mutation_p.A386T	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	386										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GCATGGTTGGCGATGCTGGGA	0.612													46	157					0	0	1	0	0	T	161967933	C	T	161967933	3	4	240	1	0	0	0	0	1	0	0	0	10858	768	27	1	1108	1	OLFML2B	1	161967933	Missense_Mutation	SNP	C	TCGA-HT-8563-01A-11D-2395-08	84874708	161967933	87282688	3	9951											
MGAT5	4249	broad.mit.edu	37	chr2	135180442	135180442	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtggactgttgacctcaaCaatcaggaggaagtagagga	13	8	14	6	0	2	2	2	1	0	1	2	6	2	6	1	4	1	2	1	4	4	2			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr2:135180442C>G	uc002ttw.4	+	12	1891	c.1746C>G	c.(1744-1746)aaC>aaG	p.N582K		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase (MGAT5), mRNA.	582					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TTGACCTCAACAATCAGGAGG	0.448													16	76					0	0	1	0	0	G	135180442	C	G	135180442	3	3	240	1	0	0	0	0	1	0	0	0	9548	477	17	5	1796	5	MGAT5	2	135180442	Missense_Mutation	SNP	C	TCGA-HT-8563-01A-11D-2395-08		135180442	108018931	4	9952											
TTN	7273	broad.mit.edu	37	chr2	179413638	179413638	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtcacttcacagctgtcGccttttccagcaccattgat	8	12	6	15	1	2	1	2	1	0	0	4	1	3	1	4	0	2	2	4	0	0	4	rs140576051	by1000genomes	TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr2:179413638G>A	uc021vsy.1	-	287	85236	c.85011C>T	c.(85009-85011)ggC>ggT	p.G28337G	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.G22032G|TTN_uc021vta.1_Silent_p.G21965G|TTN_uc021vtb.1_Silent_p.G21840G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29264	Fibronectin type-III 106.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACAGCTGTCGCCTTTTCCAG	0.423													21	77					0	0	1	0	0	A	179413638	G	A	179413638	2	1	240	1	0	0	0	0	0	0	0	1	16732	1074	38	1		1	TTN	2	179413638	Silent	SNP	G	TCGA-HT-8563-01A-11D-2395-08	44233196	179413638	63785735	5	9953											
DNAJC10	54431	broad.mit.edu	37	chr2	183593668	183593668	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgatagaatgctttgcCgaatgaaaggagtcaacagc	14	9	12	6	1	1	4	1	3	0	1	1	6	1	5	1	1	4	1	1	1	5	2			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr2:183593668C>T	uc002uow.1	+	6	995	c.580C>T	c.(580-582)Cga>Tga	p.R194*	DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Nonsense_Mutation_p.R194*|DNAJC10_uc010fro.1_Non-coding_Transcript	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA.	194	Thioredoxin 1.				ER-associated protein catabolic process|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AATGCTTTGCCGAATGAAAGG	0.378													17	94					0	0	1	0	0	T	183593668	C	T	183593668	4	4	240	1	0	0	0	0	0	1	0	0	4629	644	23	2	598	2	DNAJC10	2	183593668	Nonsense_Mutation	SNP	C	TCGA-HT-8563-01A-11D-2395-08	4180030	183593668	59605705	6	9954											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								21	73					0	0	1	0	0	T	209113112	C	T	209113112	3	4	240	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8563-01A-11D-2395-08	25519444	209113112	34086261	7	9955											
ZBTB20	26137	broad.mit.edu	37	chr3	114070216	114070216	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcctgtccacgctgtgctGtgggtggctctgcaggtagc	4	11	15	11	1	1	0	0	0	1	0	3	1	3	0	2	3	3	5	2	3	1	1			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr3:114070216G>A	uc003ebi.3	-	3	889	c.709C>T	c.(709-711)Cag>Tag	p.Q237*	ZBTB20_uc003ebj.3_Nonsense_Mutation_p.Q164*|ZBTB20_uc010hqp.3_Nonsense_Mutation_p.Q164*|ZBTB20_uc003ebk.3_Nonsense_Mutation_p.Q164*|ZBTB20_uc003ebl.3_Nonsense_Mutation_p.Q164*|ZBTB20_uc003ebm.3_Nonsense_Mutation_p.Q164*|ZBTB20_uc003ebn.3_Nonsense_Mutation_p.Q164*|ZBTB20-AS1_uc003ebo.2_5'Flank	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		ACGCTGTGCTGTGGGTGGCTC	0.657													33	85					0	0	1	0	0	A	114070216	G	A	114070216	4	1	240	1	0	0	0	0	0	1	0	0	17526	1386	48	3	1524	3	ZBTB20	3	114070216	Nonsense_Mutation	SNP	G	TCGA-HT-8563-01A-11D-2395-08		114070216	83952214	8	9956											
STK32B	55351	broad.mit.edu	37	chr4	5461892	5461892	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacatacagagcgtgccctaCttggccgacatgaactggga	11	7	12	11	2	0	2	0	1	0	1	0	5	0	3	2	2	5	0	2	2	3	3			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr4:5461892C>G	uc003gih.1	+	8	910	c.846C>G	c.(844-846)taC>taG	p.Y282*	STK32B_uc010ida.1_Nonsense_Mutation_p.Y235*	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	Homo sapiens serine/threonine kinase 32B (STK32B), mRNA.	282	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						GCGTGCCCTACTTGGCCGACA	0.562											OREG0016061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	120					0	0	1	0	0	G	5461892	C	G	5461892	4	3	240	1	0	0	0	0	0	1	0	0	15297	576	20	5	880	5	STK32B	4	5461892	Nonsense_Mutation	SNP	C	TCGA-HT-8563-01A-11D-2395-08		5461892	185692384	9	9957											
PPARGC1A	10891	broad.mit.edu	37	chr4	23815630	23815630	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataggtagtttggagaattgTtcattactgaaatcactgtc	12	15	9	5	0	2	2	2	1	0	1	3	3	2	2	0	2	1	3	0	2	5	6			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr4:23815630T>C	uc003gqs.3	-	7	1596	c.1476A>G	c.(1474-1476)gaA>gaG	p.E492E	PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	492					RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGGAGAATTGTTCATTACTGA	0.458													30	112					0	0	1	0	0	C	23815630	T	C	23815630	2	2	240	1	0	0	0	0	0	0	0	1	12300	1722	60	3		3	PPARGC1A	4	23815630	Silent	SNP	T	TCGA-HT-8563-01A-11D-2395-08	18353738	23815630	167338646	10	9958											
MPP7	143098	broad.mit.edu	37	chr10	28414006	28414006	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccccggtctgttcatccttCttaatggtagctccctttta	5	16	7	13	1	3	0	1	0	2	0	5	0	5	0	4	2	1	3	4	2	3	6			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr10:28414006C>T	uc001iua.1	-	8	866	c.462G>A	c.(460-462)aaG>aaA	p.K154K	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Silent_p.K154K|MPP7_uc009xla.2_Silent_p.K154K|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	154	PDZ.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						GTTCATCCTTCTTAATGGTAG	0.403													7	114					0	0	1	0	0	T	28414006	C	T	28414006	2	4	240	1	0	0	0	0	0	0	0	1	9739	912	32	3		3	MPP7	10	28414006	Silent	SNP	C	TCGA-HT-8563-01A-11D-2395-08		28414006	107120741	11	9959											
OR5AN1	390195	broad.mit.edu	37	chr11	59132063	59132063	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatctctggcctggaacctCtccctcattgttttaataag	9	14	6	12	0	3	0	1	0	2	0	5	1	3	1	3	2	1	1	3	2	3	4			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr11:59132063C>T	uc010rks.2	+	0	132	c.132C>T	c.(130-132)ctC>ctT	p.L44L		NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AN, member 1 (OR5AN1), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						CCTGGAACCTCTCCCTCATTG	0.428													49	182					0	0	1	0	0	T	59132063	C	T	59132063	2	4	240	1	0	0	0	0	0	0	0	1	11143	900	32	3		3	OR5AN1	11	59132063	Silent	SNP	C	TCGA-HT-8563-01A-11D-2395-08		59132063	75874453	12	9960											
MYO7A	4647	broad.mit.edu	37	chr11	76877199	76877199	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagatcttccaggccgaTgtcgccatggtaagccgggt	9	8	13	11	3	1	1	0	0	1	1	3	2	2	1	4	3	2	2	4	3	2	2			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr11:76877199T>A	uc001oyb.2	+	14	2060	c.1788T>A	c.(1786-1788)gaT>gaA	p.D596E	MYO7A_uc010rsl.2_Missense_Mutation_p.D596E|MYO7A_uc010rsm.1_Missense_Mutation_p.D585E|MYO7A_uc001oyc.2_Missense_Mutation_p.D596E	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	596	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCCAGGCCGATGTCGCCATGG	0.587													12	38					0	0	1	0	0	A	76877199	T	A	76877199	3	1	240	1	0	0	0	0	1	0	0	0	10082	1461	51	5	1842	5	MYO7A	11	76877199	Missense_Mutation	SNP	T	TCGA-HT-8563-01A-11D-2395-08	17745136	76877199	58129317	13	9961											
LRRIQ1	84125	broad.mit.edu	37	chr12	85518292	85518292	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaaatattgagcctagtgaAaaaatgtaagatatataaat	21	11	6	3	0	0	3	0	2	0	1	0	3	0	3	1	0	1	1	1	0	12	7			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr12:85518292A>G	uc001tac.3	+	16	4113	c.4002A>G	c.(4000-4002)gaA>gaG	p.E1334E	LRRIQ1_uc021rbo.1_Silent_p.E1212E	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	1334								p.E1334*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AGCCTAGTGAAAAAATGTAAG	0.323													50	93					0	0	1	0	0	G	85518292	A	G	85518292	2	3	240	1	0	0	0	0	0	0	0	1	9029	11	1	3		3	LRRIQ1	12	85518292	Silent	SNP	A	TCGA-HT-8563-01A-11D-2395-08		85518292	48333603	14	9962											
KSR2	283455	broad.mit.edu	37	chr12	118199044	118199044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggaccgcgtgccgctgcCggggcgatgggggcagggaa	5	4	21	11	6	0	0	0	0	0	0	0	3	0	2	3	6	3	2	3	6	1	0			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr12:118199044C>T	uc001two.2	-	3	726	c.671G>A	c.(670-672)cGg>cAg	p.R224Q		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	253	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGCCGCTGCCGGGGCGATGG	0.716													83	102					0	0	1	0	0	T	118199044	C	T	118199044	3	4	240	1	0	0	0	0	1	0	0	0	8582	652	23	2	2162	2	KSR2	12	118199044	Missense_Mutation	SNP	C	TCGA-HT-8563-01A-11D-2395-08	32680752	118199044	15652851	15	9963											
ANAPC5	51433	broad.mit.edu	37	chr12	121790075	121790075	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccagtccttgatgccgaaCacattggcgtgcacaacccc	10	7	8	16	2	0	1	0	1	0	0	1	2	1	1	5	1	4	1	5	1	2	2			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr12:121790075C>G	uc001uag.3	-	0	191	c.69G>C	c.(67-69)gtG>gtC	p.V23V	ANAPC5_uc001uah.3_Intron	NM_016237	NP_057321	Q9UJX4	APC5_HUMAN	Homo sapiens anaphase promoting complex subunit 5 (ANAPC5), transcript variant 1, mRNA.	23					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGATGCCGAACACATTGGCGT	0.632													17	84					0	0	1	0	0	G	121790075	C	G	121790075	2	3	240	1	0	0	0	0	0	0	0	1	605	465	17	5		5	ANAPC5	12	121790075	Silent	SNP	C	TCGA-HT-8563-01A-11D-2395-08	3591031	121790075	12061820	16	9964											
KDM2B	84678	broad.mit.edu	37	chr12	122012481	122012481	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgacgtctcggactgtgAaatcagggtcaggcatcctg	8	11	13	9	2	3	2	2	2	1	0	5	3	4	3	1	3	0	2	1	3	1	1			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr12:122012481A>C	uc001uat.3	-	3	472	c.368T>G	c.(367-369)tTc>tGc	p.F123C	KDM2B_uc001uas.3_Missense_Mutation_p.F92C|KDM2B_uc021rfd.1_Missense_Mutation_p.F92C|KDM2B_uc001uau.3_Missense_Mutation_p.F6C|KDM2B_uc021rfe.1_Missense_Mutation_p.F123C|KDM2B_uc001uav.4_Missense_Mutation_p.F123C	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	123					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCGGACTGTGAAATCAGGGTC	0.567													31	81					0	0	1	0	0	C	122012481	A	C	122012481	3	2	240	1	0	0	0	0	1	0	0	0	8125	246	9	5	3774	5	KDM2B	12	122012481	Missense_Mutation	SNP	A	TCGA-HT-8563-01A-11D-2395-08	222406	122012481	11839414	17	9965											
SOS2	6655	broad.mit.edu	37	chr14	50655245	50655245	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagctttctatcagaaagAaaggcttctcgaaacacttt	15	11	6	9	1	3	2	1	0	2	2	4	3	3	2	0	1	3	2	0	1	5	4			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr14:50655245A>C	uc001wxs.4	-	4	782	c.684T>G	c.(682-684)ttT>ttG	p.F228L	SOS2_uc010tql.2_Missense_Mutation_p.F228L	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	228	DH.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|Rho guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TATCAGAAAGAAAGGCTTCTC	0.338													11	56					0	0	1	0	0	C	50655245	A	C	50655245	3	2	240	1	0	0	0	0	1	0	0	0	14937	243	9	5	3390	5	SOS2	14	50655245	Missense_Mutation	SNP	A	TCGA-HT-8563-01A-11D-2395-08		50655245	56694295	18	9966											
TSC2	7249	broad.mit.edu	37	chr16	2122981	2122981	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactacctggacaaaaccaaAcaggtaggaggtcagagcag	17	4	11	9	0	1	1	1	0	0	1	1	3	1	3	2	4	5	2	2	4	6	2			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr16:2122981A>C	uc002con.3	+	20	2458	c.2352A>C	c.(2350-2352)aaA>aaC	p.K784N	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Missense_Mutation_p.K784N|TSC2_uc002coo.3_Missense_Mutation_p.K784N|TSC2_uc010uvv.2_Missense_Mutation_p.K747N|TSC2_uc010uvw.2_Missense_Mutation_p.K735N|TSC2_uc002cop.3_Missense_Mutation_p.K584N	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	784					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				ACAAAACCAAACAGGTAGGAG	0.547			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				12	45					0	0	1	0	0	C	2122981	A	C	2122981	3	2	240	1	0	0	0	0	1	0	0	0	16603	40	2	5	2430	5	TSC2	16	2122981	Missense_Mutation	SNP	A	TCGA-HT-8563-01A-11D-2395-08		2122981	88231772	19	9967											
ACSM2A	123876	broad.mit.edu	37	chr16	20492162	20492162	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtaccggattggaccctcGgaggtagagaatgcactgat	11	8	14	8	2	0	2	0	1	0	1	1	6	0	5	2	5	2	3	2	5	3	3			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr16:20492162G>A	uc010bwe.3	+	12	1667	c.1428G>A	c.(1426-1428)tcG>tcA	p.S476S	ACSM2A_uc010vax.1_Silent_p.S397S|ACSM2A_uc002dhf.4_Silent_p.S476S|ACSM2A_uc002dhg.4_Silent_p.S476S|ACSM2A_uc010vay.2_Silent_p.S397S|ACSM2A_uc002dhh.4_Silent_p.S106S	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	476					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TTGGACCCTCGGAGGTAGAGA	0.567													23	95					0	0	1	0	0	A	20492162	G	A	20492162	2	1	240	1	0	0	0	0	0	0	0	1	183	1103	39	2		2	ACSM2A	16	20492162	Silent	SNP	G	TCGA-HT-8563-01A-11D-2395-08	18369181	20492162	69862591	20	9968											
FAM65A	79567	broad.mit.edu	37	chr16	67578714	67578714	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaggcggtgggagatcccGgccagctctgcccaggaagg	8	4	17	12	2	1	1	0	0	1	1	2	3	2	2	3	6	3	2	3	6	1	0	rs146173403		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr16:67578714G>A	uc010vjp.2	+	15	3096	c.2910G>A	c.(2908-2910)ccG>ccA	p.P970P	FAM65A_uc002eth.3_Silent_p.P950P|FAM65A_uc010cej.3_Silent_p.P954P|FAM65A_uc010vjq.2_Silent_p.P964P|FAM65A_uc002etk.3_Silent_p.P948P	NM_001193523	NP_078795	Q6ZS17	FA65A_HUMAN	Homo sapiens family with sequence similarity 65, member A (FAM65A), transcript variant 3, mRNA.	954						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GGGAGATCCCGGCCAGCTCTG	0.652													31	99					0	0	1	0	0	A	67578714	G	A	67578714	2	1	240	1	0	0	0	0	0	0	0	1	5599	1103	39	2		2	FAM65A	16	67578714	Silent	SNP	G	TCGA-HT-8563-01A-11D-2395-08	47086552	67578714	22776039	21	9969											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr17:7577538C>T	uc002gim.2	-	6	937	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.3_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q|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.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			12	66					0	0	1	0	0	T	7577538	C	T	7577538	3	4	240	1	0	0	0	0	1	0	0	0	16378	652	23	2	547	2	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-HT-8563-01A-11D-2395-08		7577538	73617672	22	9970											
TP53	7157	broad.mit.edu	37	chr17	7578475	7578475	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcggacgcgggtgccgggcGggggtgtggaatcaacccac	6	4	19	12	6	1	0	1	0	0	0	1	2	1	2	2	6	2	0	2	6	2	0	rs137852790		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr17:7578475G>T	uc002gim.2	-	4	649	c.455C>A	c.(454-456)cCg>cAg	p.P152Q	TP53_uc002gig.1_Missense_Mutation_p.P152Q|TP53_uc002gih.3_Missense_Mutation_p.P152Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.P20Q|TP53_uc010cnf.1_Missense_Mutation_p.P20Q|TP53_uc002gii.1_Missense_Mutation_p.P20Q|TP53_uc010cni.1_Missense_Mutation_p.P152Q|TP53_uc010cnh.1_Missense_Mutation_p.P152Q|TP53_uc002gij.2_Missense_Mutation_p.P152Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.P59Q|TP53_uc002gio.2_Missense_Mutation_p.P20Q|TP53_uc010vug.2_Missense_Mutation_p.P113Q	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	152	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P152L(129)|p.P151S(66)|p.P151H(27)|p.P152fs*18(23)|p.P152S(22)|p.P152R(14)|p.P151T(14)|p.P151P(12)|p.P152fs*14(10)|p.P151A(9)|p.P152Q(8)|p.0?(8)|p.P152T(7)|p.P151L(7)|p.P151fs*30(7)|p.P151R(7)|p.T150fs*16(6)|p.P152fs*29(5)|p.P152P(5)|p.?(5)|p.P153fs*28(5)|p.P152fs*28(4)|p.P59L(2)|p.P151_V173del23(2)|p.P152_P153del(2)|p.P20L(2)|p.D148_T155delDSTPPPGT(2)|p.T150_P153delTPPP(2)|p.P152fs*27(2)|p.Q144_G154del11(2)|p.P152A(2)|p.P153fs*16(1)|p.P59R(1)|p.P20R(1)|p.T57fs*16(1)|p.P151del(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152_P153insXXX(1)|p.Q144fs*16(1)|p.T18fs*16(1)|p.T150_P151delTP(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)		GGTGCCGGGCGGGGGTGTGGA	0.612		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)			19	59					2.94398e-08	3.07483e-08	1	1	0	T	7578475	G	T	7578475	3	4	240	1	0	0	0	0	1	0	0	0	16378	1116	39	5	843	5	TP53	17	7578475	Missense_Mutation	SNP	G	TCGA-HT-8563-01A-11D-2395-08	937	7578475	73616735	23	9971											
TMEM104	54868	broad.mit.edu	37	chr17	72832811	72832811	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acggccaatatcatcctcagCgagaccaagctctgatggca	12	7	9	13	2	3	2	2	1	1	1	4	3	4	2	3	2	2	2	3	2	3	1			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr17:72832811C>G	uc002jls.4	+	9	1638	c.1476C>G	c.(1474-1476)agC>agG	p.S492R	TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.3_Missense_Mutation_p.S492R	NM_017728	NP_060198	Q8NE00	TM104_HUMAN	Homo sapiens transmembrane protein 104 (TMEM104), mRNA.	492						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					TCATCCTCAGCGAGACCAAGC	0.602													14	41					0	0	1	0	0	G	72832811	C	G	72832811	3	3	240	1	0	0	0	0	1	0	0	0	16015	767	27	5	1510	5	TMEM104	17	72832811	Missense_Mutation	SNP	C	TCGA-HT-8563-01A-11D-2395-08	65254336	72832811	8362399	24	9972											
DERL3	91319	broad.mit.edu	37	chr22	24179853	24179853	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgggaggctcacccagcagGtccacgaggatggagttgcc	8	5	15	13	2	1	0	1	0	0	0	2	4	2	3	4	5	2	3	4	5	0	1			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr22:24179853G>A	uc002zyk.4	-	4	541	c.516C>T	c.(514-516)gaC>gaT	p.D172D	DERL3_uc002zyh.3_Silent_p.D172D|DERL3_uc002zyi.3_Silent_p.D172D|DERL3_uc002zyj.3_Missense_Mutation_p.P129S|DERL3_uc021wmv.1_5'Flank	NM_001135751	NP_001129223	Q96Q80	DERL3_HUMAN	Homo sapiens Der1-like domain family, member 3 (DERL3), transcript variant 1, mRNA.	172					ER-associated protein catabolic process|endoplasmic reticulum unfolded protein response	integral to endoplasmic reticulum membrane	protein binding			ovary(1)|prostate(1)|skin(1)	3						CACCCAGCAGGTCCACGAGGA	0.642													8	30					0	0	1	0	0	A	24179853	G	A	24179853	2	1	240	1	0	0	0	0	0	0	0	1	4448	1252	44	3		3	DERL3	22	24179853	Silent	SNP	G	TCGA-HT-8563-01A-11D-2395-08		24179853	27124713	25	9973											
ATRX	546	broad.mit.edu	37	chrX	76890195	76890195	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccacataaactgaacacCtaaaaataacagcttcatta	19	9	2	11	0	1	1	1	1	0	0	2	1	2	1	2	0	4	1	2	0	8	5			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chrX:76890195C>G	uc004ecp.4	-	17	4932	c.4700_splice	c.e17-1	p.G1567_splice	ATRX_uc004ecq.4_Splice_Site_p.G1529_splice|ATRX_uc004eco.4_Splice_Site_p.G1352_splice	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1567					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AACTGAACACCTAAAAATAAC	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						35	128					0	0	1	0	0	G	76890195	C	G	76890195	5	3	240	1	0	0	0	0	0	0	1	0	1208	695	24	5	2855	5	ATRX	23	76890195	Splice_Site	SNP	C	TCGA-HT-8563-01A-11D-2395-08		76890195	78380365	26	9974											
RAB33A	9363	broad.mit.edu	37	chrX	129318702	129318702	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctaacagtaaaacttcCtgtccttgttgaaaccaaac	15	10	6	10	0	0	1	0	1	0	0	2	2	2	1	3	0	5	3	3	0	6	5			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chrX:129318702C>G	uc004evl.3	+	1	966	c.702C>G	c.(700-702)tcC>tcG	p.S234S	RAB33A_uc010nre.3_Non-coding_Transcript	NM_004794	NP_004785	Q14088	RB33A_HUMAN	Homo sapiens RAB33A, member RAS oncogene family (RAB33A), mRNA.	234					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						GTAAAACTTCCTGTCCTTGTT	0.438													5	55					0	0	1	0	0	G	129318702	C	G	129318702	2	3	240	1	0	0	0	0	0	0	0	1	12922	668	24	5		5	RAB33A	23	129318702	Silent	SNP	C	TCGA-HT-8563-01A-11D-2395-08	52428507	129318702	25951858	27	9975											
MAGEC1	9947	broad.mit.edu	37	chrX	140995062	140995062	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaggaattccagtcttcTctccagagccctgtgagcat	8	10	12	11	0	2	2	0	1	2	1	5	4	4	4	3	3	2	1	3	3	1	2			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chrX:140995062T>C	uc004fbt.3	+	3	2196	c.1872T>C	c.(1870-1872)tcT>tcC	p.S624S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.S283S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	624							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGTCTTCTCTCCAGAGCC	0.567										HNSCC(15;0.026)			142	401					0	0	1	0	0	C	140995062	T	C	140995062	2	2	240	1	0	0	0	0	0	0	0	1	9180	1538	54	4		4	MAGEC1	23	140995062	Silent	SNP	T	TCGA-HT-8563-01A-11D-2395-08	11676360	140995062	14275498	28	9976											
MMEL1	79258	broad.mit.edu	37	chr1	2541236	2541236	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaagtcgtcacacggttcCgtggtcgggtccatgttctg	6	12	13	10	4	2	1	1	0	1	1	6	1	4	1	2	3	0	2	2	3	2	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:2541236C>T	uc001ajy.2	-	4	541	c.327G>A	c.(325-327)acG>acA	p.T109T	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	109					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CACACGGTTCCGTGGTCGGGT	0.602													49	86					0	0	1	0	0	T	2541236	C	T	2541236	2	4	241	1	0	0	0	0	0	0	0	1	9646	639	23	2		2	MMEL1	1	2541236	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08		2541236	246709385	1	9977											
CHD5	26038	broad.mit.edu	37	chr1	6202326	6202326	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcccacatctcaaactcGcgttcccagttgatgatggt	8	10	10	13	3	1	2	1	2	1	0	4	2	2	2	2	2	1	2	2	2	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:6202326G>A	uc001amb.2	-	14	2409	c.2298C>T	c.(2296-2298)cgC>cgT	p.R766R	CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	766	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCTCAAACTCGCGTTCCCAGT	0.607													69	106					0	0	1	0	0	A	6202326	G	A	6202326	2	1	241	1	0	0	0	0	0	0	0	1	3328	1074	38	1		1	CHD5	1	6202326	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3661090	6202326	243048295	2	9978											
ICMT	23463	broad.mit.edu	37	chr1	6285295	6285295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtcagggcatagctgaCgccgcagatggggttacaca	10	7	13	11	2	1	2	1	1	0	1	1	2	1	2	1	3	2	4	1	3	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:6285295C>T	uc001amk.3	-	4	773	c.700G>A	c.(700-702)Gtc>Atc	p.V234I	ICMT_uc001aml.3_Missense_Mutation_p.V138I	NM_012405	NP_036537	O60725	ICMT_HUMAN	Homo sapiens isoprenylcysteine carboxyl methyltransferase (ICMT), mRNA.	234					protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GCATAGCTGACGCCGCAGATG	0.517													44	84					0	0	1	0	0	T	6285295	C	T	6285295	3	4	241	1	0	0	0	0	1	0	0	0	7485	536	19	1	158	1	ICMT	1	6285295	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	82969	6285295	242965326	3	9979											
ZBTB48	3104	broad.mit.edu	37	chr1	6647351	6647354	+	Splice_Site	DEL	AGTA	AGTA	-																															ggagcccccaagccccatgcAgtaagtgacagggagggctg																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:6647351_6647354delAGTA	uc009vmc.2	+	6	1347	c.1224_splice	c.e6+1	p.A408_splice	ZBTB48_uc001anx.3_Splice_Site_p.A408_splice|ZBTB48_uc009vmd.2_Splice_Site_p.A408_splice|ZBTB48_uc001any.2_Splice_Site_p.A46_splice	NM_005341	NP_005332	P10074	ZBT48_HUMAN	Homo sapiens zinc finger and BTB domain containing 48 (ZBTB48), mRNA.	408						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		AGCCCCATGCAGTAAGTGACAGGG	0.564													9	66	---	---	---	---						-	6647354	AGTA	-	6647351	8	5	241	1	0	1	0	1	0	0	1	0	17546	202	7	0	1242	0	ZBTB48	1	6647351	Splice_Site	DEL	AGTA	TCGA-HT-8564-01A-11D-2395-08	362056	6647351	242603270	4	9980											
PHF13	148479	broad.mit.edu	37	chr1	6680127	6680128	+	Frame_Shift_Ins	INS	-	-	G																															gcctgggaaagaggggtacaINSgggggggcttgctgaagctg																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:6680127_6680128insG	uc001aob.4	+	2	777_778	c.406_407insG	c.(406-408)aggfs	p.R136fs		NM_153812	NP_722519	Q86YI8	PHF13_HUMAN	Homo sapiens PHD finger protein 13 (PHF13), mRNA.	136					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		AGAGGGGTACAGGGGGGGCTTG	0.604													17	153	---	---	---	---						G	6680128	-	G	6680127	7	5	241	1	0	1	1	0	0	0	0	0	11824	179	7	0	416	0	PHF13	1	6680127	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	32776	6680127	242570494	5	9981											
DNAJC11	55735	broad.mit.edu	37	chr1	6697342	6697342	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaatcaccttcaccttctcGctcttcctgctcttgtcatt	5	17	3	16	1	7	0	4	0	3	0	9	0	8	0	3	0	1	2	3	0	1	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:6697342G>A	uc001aof.2	-	13	1546	c.1440C>T	c.(1438-1440)agC>agT	p.S480S	DNAJC11_uc001aog.2_Silent_p.S428S|DNAJC11_uc010nzu.1_Silent_p.S390S	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.	480					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCACCTTCTCGCTCTTCCTGC	0.567													68	143					0	0	1	0	0	A	6697342	G	A	6697342	2	1	241	1	0	0	0	0	0	0	0	1	4630	1078	38	1		1	DNAJC11	1	6697342	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	17215	6697342	242553279	6	9982											
RERE	473	broad.mit.edu	37	chr1	8674675	8674675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtggctgtgatgccaccGgcagagagcatgctgggggg	6	7	20	8	1	0	2	0	1	0	1	0	3	0	2	2	6	3	4	2	6	0	0	rs142313428		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:8674675G>A	uc001ape.3	-	4	1277	c.467C>T	c.(466-468)cCg>cTg	p.P156L	RERE_uc001apf.3_Missense_Mutation_p.P156L|RERE_uc001aph.1_Missense_Mutation_p.P156L	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	156	BAH.				NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TGATGCCACCGGCAGAGAGCA	0.488													44	168					0	0	1	0	0	A	8674675	G	A	8674675	3	1	241	1	0	0	0	0	1	0	0	0	13231	1116	39	2	4313	2	RERE	1	8674675	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1977333	8674675	240575946	7	9983											
DNAJC16	23341	broad.mit.edu	37	chr1	15874846	15874846	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacggaagagatgacaaggCggtacaacatcaatatctac	16	6	11	8	2	2	2	1	1	1	1	2	5	2	4	0	4	3	1	0	4	7	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:15874846C>T	uc001aws.3	+	6	1066	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W	DNAJC16_uc001awr.1_Missense_Mutation_p.R316W|DNAJC16_uc001awt.3_Missense_Mutation_p.R4W	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA.	316					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GATGACAAGGCGGTACAACAT	0.428													34	43					0	0	1	0	0	T	15874846	C	T	15874846	3	4	241	1	0	0	0	0	1	0	0	0	4635	759	27	1	968	1	DNAJC16	1	15874846	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	7200171	15874846	233375775	8	9984											
SPEN	23013	broad.mit.edu	37	chr1	16202978	16202978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgatattacccgggaggtacGaggcagaaggccagagcgga	12	5	16	8	3	0	3	0	1	0	2	0	6	0	5	2	5	3	2	2	5	4	3	rs139125517		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:16202978G>A	uc001axk.1	+	2	890	c.686G>A	c.(685-687)cGa>cAa	p.R229Q	SPEN_uc010obp.1_Missense_Mutation_p.R188Q	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	229	Arg-rich.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CGGGAGGTACGAGGCAGAAGG	0.542													45	95					0	0	1	0	0	A	16202978	G	A	16202978	3	1	241	1	0	0	0	0	1	0	0	0	15037	1058	37	2	696	2	SPEN	1	16202978	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	328132	16202978	233047643	9	9985											
UBR4	23352	broad.mit.edu	37	chr1	19501461	19501461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctagtaccacagaatcaagtCggttcaaatcatcctctgag	13	10	7	11	1	4	2	3	1	1	1	6	2	5	2	2	1	1	2	2	1	5	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:19501461C>T	uc001bbi.3	-	20	2844	c.2840G>A	c.(2839-2841)cGa>cAa	p.R947Q	UBR4_uc001bbm.1_Missense_Mutation_p.R158Q	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	947					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGAATCAAGTCGGTTCAAATC	0.438													51	103					0	0	1	0	0	T	19501461	C	T	19501461	3	4	241	1	0	0	0	0	1	0	0	0	16901	884	31	2	13055	2	UBR4	1	19501461	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3298483	19501461	229749160	10	9986											
HSPG2	3339	broad.mit.edu	37	chr1	22166340	22166340	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagcagcgcaaggtggcCgtgtgtccagcctccacagt	7	7	14	13	2	0	1	0	1	0	0	2	1	2	1	4	2	3	3	4	2	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:22166340C>T	uc009vqd.3	-	71	9727	c.9687G>A	c.(9685-9687)acG>acA	p.T3229T	HSPG2_uc001bfj.3_Silent_p.T3228T	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	3228	Ig-like C2-type 18.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCAAGGTGGCCGTGTGTCCAG	0.627													84	102					0	0	1	0	0	T	22166340	C	T	22166340	2	4	241	1	0	0	0	0	0	0	0	1	7430	639	23	2		2	HSPG2	1	22166340	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2664879	22166340	227084281	11	9987											
HSPG2	3339	broad.mit.edu	37	chr1	22168798	22168798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgctcagggcctgggcCgctggctgcacgacacacat	6	9	12	14	2	2	0	1	0	1	0	2	1	2	0	2	3	2	4	2	3	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:22168798C>T	uc009vqd.3	-	67	9029	c.8989G>A	c.(8989-8991)Ggc>Agc	p.G2997S	HSPG2_uc001bfj.3_Missense_Mutation_p.G2996S	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	2996	Ig-like C2-type 15.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGGCCTGGGCCGCTGGCTGCA	0.642													12	63					0	0	1	0	0	T	22168798	C	T	22168798	3	4	241	1	0	0	0	0	1	0	0	0	7430	652	23	2	4309	2	HSPG2	1	22168798	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2458	22168798	227081823	12	9988											
KDM1A	23028	broad.mit.edu	37	chr1	23405541	23405541	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaacctttatttataaatgCgacgcagttctctgtaccct	11	14	5	11	2	1	0	0	0	1	0	2	1	1	0	2	0	3	3	2	0	6	7	rs145299191		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:23405541C>T	uc001bgi.2	+	14	2003	c.1854C>T	c.(1852-1854)tgC>tgT	p.C618C	KDM1A_uc001bgj.2_Silent_p.C642C	NM_015013	NP_055828	O60341	KDM1A_HUMAN	Homo sapiens lysine (K)-specific demethylase 1A (KDM1A), transcript variant 2, mRNA.	618	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	MyoD binding|androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H3-dimethyl-K4 specific)|ligand-dependent nuclear receptor transcription coactivator activity|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TTTATAAATGCGACGCAGTTC	0.507													38	204					0	0	1	0	0	T	23405541	C	T	23405541	2	4	241	1	0	0	0	0	0	0	0	1	8122	776	27	1		1	KDM1A	1	23405541	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1236743	23405541	225845080	13	9989											
HTR1D	3352	broad.mit.edu	37	chr1	23519885	23519885	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaagcttgattttcacGtggttgaaaaagagagggga	13	10	13	5	1	2	3	2	2	0	1	2	5	2	4	0	3	2	3	0	3	3	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:23519885G>A	uc001bgn.3	-	0	1338	c.828C>T	c.(826-828)caC>caT	p.H276H		NM_000864	NP_000855	P28221	5HT1D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1D (HTR1D), mRNA.	276					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TGATTTTCACGTGGTTGAAAA	0.567													83	103					0	0	1	0	0	A	23519885	G	A	23519885	2	1	241	1	0	0	0	0	0	0	0	1	7438	1136	40	1		1	HTR1D	1	23519885	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	114344	23519885	225730736	14	9990											
CLIC4	25932	broad.mit.edu	37	chr1	25167273	25167273	+	Frame_Shift_Del	DEL	A	A	-																															ttgtatttcaggtggtggccAaaaaatatcgcaactttgat																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:25167273delA	uc001bjo.2	+	5	892	c.607delA	c.(607-609)aaafs	p.K203fs	CLIC4_uc001bjp.1_Frame_Shift_Del_p.K183fs|CLIC4_uc021ojh.1_5'Flank	NM_013943	NP_039234	Q9Y696	CLIC4_HUMAN	Homo sapiens chloride intracellular channel 4 (CLIC4), nuclear gene encoding mitochondrial protein, mRNA.	203	GST C-terminal.				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		GGTGGTGGCCAAAAAATATCG	0.373													63	108	---	---	---	---						-	25167273	A	-	25167273	7	5	241	1	0	1	0	1	0	0	0	0	3528	131	5	0	629	0	CLIC4	1	25167273	Frame_Shift_Del	DEL	A	TCGA-HT-8564-01A-11D-2395-08	1647388	25167273	224083348	15	9991											
EXTL1	2134	broad.mit.edu	37	chr1	26349416	26349416	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatacctcaaagtgcaggggCgatggccttaaggtattcgt	10	10	13	8	2	1	0	1	0	0	0	2	2	1	0	2	4	2	2	2	4	4	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:26349416C>T	uc001blf.3	+	0	1146	c.279C>T	c.(277-279)ggC>ggT	p.G93G		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	Homo sapiens exostoses (multiple)-like 1 (EXTL1), mRNA.	93					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		AGTGCAGGGGCGATGGCCTTA	0.542													26	128					0	0	1	0	0	T	26349416	C	T	26349416	2	4	241	1	0	0	0	0	0	0	0	1	5325	755	27	1		1	EXTL1	1	26349416	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1182143	26349416	222901205	16	9992											
TRIM63	84676	broad.mit.edu	37	chr1	26387782	26387782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgttgattttctcatcttCgtgctccttgcacatggggt	5	17	10	9	1	2	1	1	1	2	0	5	2	3	1	1	2	2	3	1	2	0	5	rs139426966		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:26387782C>T	uc001bli.1	-	2	512	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K		NM_032588	NP_115977	Q969Q1	TRI63_HUMAN	Homo sapiens tripartite motif containing 63 (TRIM63), mRNA.	126	Interaction with TTN.					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|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;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTCATCTTCGTGCTCCTTG	0.582													21	77					0	0	1	0	0	T	26387782	C	T	26387782	3	4	241	1	0	0	0	0	1	0	0	0	16535	893	31	2	713	2	TRIM63	1	26387782	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	38366	26387782	222862839	17	9993											
ARID1A	8289	broad.mit.edu	37	chr1	27088659	27088659	+	Frame_Shift_Del	DEL	C	C	-																															ataggttatatgcagaggaaCccccagatgccccagtacag																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:27088659delC	uc001bmv.1	+	6	2641	c.2268delC	c.(2266-2268)aacfs	p.N756fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.N756fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.N756fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.N373fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	756					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGCAGAGGAACCCCCAGATGC	0.512			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								13	225	---	---	---	---						-	27088659	C	-	27088659	7	5	241	1	0	1	0	1	0	0	0	0	913	506	18	0	2294	0	ARID1A	1	27088659	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	700877	27088659	222161962	18	9994											
PHC2	1912	broad.mit.edu	37	chr1	33837953	33837953	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctggagcgccgcGgtctgcagcatgaggtgctg	4	9	17	11	3	1	1	0	1	1	0	1	2	1	2	1	3	7	6	1	3	0	0	rs145356735		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:33837953G>A	uc009vuh.1	-	2	759	c.270C>T	c.(268-270)acC>acT	p.T90T	PHC2_uc001bxg.1_Silent_p.T90T|PHC2_uc001bxh.1_Silent_p.T90T|PHC2_uc001bxi.1_Silent_p.T90T	NM_198040	NP_932157	Q8IXK0	PHC2_HUMAN	Homo sapiens polyhomeotic homolog 2 (Drosophila) (PHC2), transcript variant 1, mRNA.	90	Gln-rich.				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGAGCGCCGCGGTCTGCAGCA	0.667													41	58					0	0	1	0	0	A	33837953	G	A	33837953	2	1	241	1	0	0	0	0	0	0	0	1	11817	1103	39	2		2	PHC2	1	33837953	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	6749294	33837953	215412668	19	9995											
CSMD2	114784	broad.mit.edu	37	chr1	34180250	34180250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggcacgtgatgcgggCggtgccctccagacggtacc	6	5	14	16	4	0	2	0	1	0	1	1	2	1	2	5	4	3	2	5	4	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:34180250C>T	uc001bxm.1	-	20	3520	c.3343G>A	c.(3343-3345)Gcc>Acc	p.A1115T	CSMD2_uc001bxn.1_Missense_Mutation_p.A1075T	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1075	CUB 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTGATGCGGGCGGTGCCCTCC	0.632													136	245					0	0	1	0	0	T	34180250	C	T	34180250	3	4	241	1	0	0	0	0	1	0	0	0	3945	768	27	1	7436	1	CSMD2	1	34180250	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	342297	34180250	215070371	20	9996											
DLGAP3	58512	broad.mit.edu	37	chr1	35365314	35365314	+	Frame_Shift_Del	DEL	G	G	-																															gtagccagggatggagctccGggggtggatccggggtggga																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:35365314delG	uc001byc.3	-	2	1342	c.1342delC	c.(1342-1344)cggfs	p.R448fs		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	448					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		p.R448Q(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				ATGGAGCTCCGGGGGTGGATC	0.577													31	205	---	---	---	---						-	35365314	G	-	35365314	7	5	241	1	0	1	0	1	0	0	0	0	4561	1115	39	0	1629	0	DLGAP3	1	35365314	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	1185064	35365314	213885307	21	9997											
ZNF691	51058	broad.mit.edu	37	chr1	43317024	43317024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaccgcatccggcacgagcGgatccacctggaagagaaac	13	3	11	14	4	0	1	0	0	0	1	2	5	2	3	4	3	3	2	4	3	3	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:43317024G>A	uc021omh.1	+	3	790	c.488G>A	c.(487-489)cGg>cAg	p.R163Q	ZNF691_uc001cig.3_Missense_Mutation_p.R132Q|ZNF691_uc009vwm.3_Missense_Mutation_p.R152Q|ZNF691_uc001cih.3_Missense_Mutation_p.R159Q|ZNF691_uc021omi.1_Missense_Mutation_p.R132Q	NM_001242739	NP_001229668	Q5VV52	ZN691_HUMAN	Homo sapiens zinc finger protein 691 (ZNF691), transcript variant 1, mRNA.	163						nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(2)|ovary(2)|prostate(1)	7	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGGCACGAGCGGATCCACCTG	0.562													40	62					0	0	1	0	0	A	43317024	G	A	43317024	3	1	241	1	0	0	0	0	1	0	0	0	18093	1116	39	2	397	2	ZNF691	1	43317024	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	7951710	43317024	205933597	22	9998											
TIE1	7075	broad.mit.edu	37	chr1	43779639	43779639	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcacctaccagtcaggctcGgtcagtgacccgccccgccc	6	7	9	19	3	3	1	3	1	0	0	4	1	3	1	6	2	1	1	6	2	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:43779639G>A	uc001ciu.3	+	14	2586	c.2409_splice	c.e14+1	p.S803_splice	TIE1_uc010oke.2_Splice_Site_p.S758_splice|TIE1_uc009vwq.3_Splice_Site_p.S759_splice|TIE1_uc010okf.1_Silent_p.S448S|TIE1_uc010okg.2_Splice_Site_p.S448_splice	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	803					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGTCAGGCTCGGTCAGTGACC	0.577													27	44					0	0	1	0	0	A	43779639	G	A	43779639	5	1	241	1	0	0	0	0	0	0	1	0	15890	1130	39	2	2463	2	TIE1	1	43779639	Splice_Site	SNP	G	TCGA-HT-8564-01A-11D-2395-08	462615	43779639	205470982	23	9999											
PTPRF	5792	broad.mit.edu	37	chr1	44056971	44056971	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaggcacgcatgctgagCgccagcaccatgctggtgca	8	6	14	13	2	0	1	0	1	0	0	0	1	0	1	2	2	6	7	2	2	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:44056971C>T	uc001cjr.3	+	8	1618	c.1278C>T	c.(1276-1278)agC>agT	p.S426S	PTPRF_uc001cjs.3_Silent_p.S426S|PTPRF_uc001cju.3_5'UTR|PTPRF_uc009vwt.3_5'UTR|PTPRF_uc001cjv.3_5'UTR	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	426	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCATGCTGAGCGCCAGCACCA	0.726													6	6					0	0	1	0	0	T	44056971	C	T	44056971	2	4	241	1	0	0	0	0	0	0	0	1	12801	767	27	1		1	PTPRF	1	44056971	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	277332	44056971	205193650	24	10000											
RNF220	55182	broad.mit.edu	37	chr1	45110396	45110397	+	Frame_Shift_Del	DEL	AA	AA	-																															gcttcatcatgtgcagcggcAaagagaacccggacagtgat																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:45110396_45110397delAA	uc001clv.1	+	8	1513_1514	c.1153_1154delAA	c.(1153-1155)aaafs	p.K385fs	RNF220_uc001clw.1_Frame_Shift_Del_p.K385fs|RNF220_uc010okx.1_Frame_Shift_Del_p.K146fs|RNF220_uc010oky.1_Frame_Shift_Del_p.K172fs|RNF220_uc010okz.2_Frame_Shift_Del_p.K127fs|RNF220_uc001clx.2_Frame_Shift_Del_p.K101fs|RNF220_uc001cma.1_Frame_Shift_Del_p.K64fs	NM_018150	NP_060620	Q5VTB9	RN220_HUMAN	Homo sapiens ring finger protein 220 (RNF220), mRNA.	385					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						GTGCAGCGGCAAAGAGAACCCG	0.599													49	115	---	---	---	---						-	45110397	AA	-	45110396	7	5	241	1	0	1	0	1	0	0	0	0	13483	131	5	0	1183	0	RNF220	1	45110396	Frame_Shift_Del	DEL	AA	TCGA-HT-8564-01A-11D-2395-08	1053425	45110396	204140225	25	10001											
RAD54L	8438	broad.mit.edu	37	chr1	46739410	46739410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctttgagaagctgtgccGtgcccgaaggtagggaagat	9	10	14	8	2	1	2	0	1	1	2	2	5	1	3	2	2	3	2	2	2	4	2	rs144207599	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:46739410G>A	uc001cpl.2	+	13	2312	c.1601G>A	c.(1600-1602)cGt>cAt	p.R534H	RAD54L_uc009vye.2_Missense_Mutation_p.R534H	NM_003579	NP_003570	Q92698	RAD54_HUMAN	Homo sapiens RAD54-like (S. cerevisiae) (RAD54L), transcript variant 1, mRNA.	534	Helicase C-terminal.		R -> C (in dbSNP:rs28363240).		meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		AAGCTGTGCCGTGCCCGAAGG	0.512								Direct reversal of damage;Homologous recombination					7	13					0	0	1	0	0	A	46739410	G	A	46739410	3	1	241	1	0	0	0	0	1	0	0	0	12993	1145	40	1	1655	1	RAD54L	1	46739410	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1629014	46739410	202511211	26	10002											
DMRTB1	63948	broad.mit.edu	37	chr1	53925205	53925205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcccgtcaagggacacGcgggcaaatgccgctggaag	9	5	16	11	4	1	0	1	0	0	0	1	2	1	2	2	4	2	2	2	4	3	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:53925205G>A	uc001cvq.1	+	0	134	c.79G>A	c.(79-81)Gcg>Acg	p.A27T		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA.	27					sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.A27A(1)		large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CAAGGGACACGCGGGCAAATG	0.612													20	39					0	0	1	0	0	A	53925205	G	A	53925205	3	1	241	1	0	0	0	0	1	0	0	0	4590	1087	38	1	81	1	DMRTB1	1	53925205	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	7185795	53925205	195325416	27	10003											
DHCR24	1718	broad.mit.edu	37	chr1	55337128	55337128	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcctgccgctgggactcGtgggtgaacttggcacagat	6	11	13	11	2	1	2	0	1	1	1	3	3	1	3	2	3	2	2	2	3	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:55337128G>A	uc001cyc.1	-	4	900	c.771C>T	c.(769-771)caC>caT	p.H257H	DHCR24_uc010ooj.1_Silent_p.H119H|DHCR24_uc010ook.1_Silent_p.H216H	NM_014762	NP_055577	Q15392	DHC24_HUMAN	Homo sapiens 24-dehydrocholesterol reductase (DHCR24), mRNA.	257					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						GCTGGGACTCGTGGGTGAACT	0.592													8	98					0	0	1	0	0	A	55337128	G	A	55337128	2	1	241	1	0	0	0	0	0	0	0	1	4476	1136	40	1		1	DHCR24	1	55337128	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1411923	55337128	193913493	28	10004											
FAM73A	374986	broad.mit.edu	37	chr1	78280851	78280851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgcaaagagcctatcGtctccaagaggagtttgaag	11	10	11	9	1	2	3	0	1	2	2	4	4	2	4	2	1	3	3	2	1	4	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:78280851G>A	uc010ork.2	+	6	862	c.830G>A	c.(829-831)cGt>cAt	p.R277H	FAM73A_uc001dhx.3_Missense_Mutation_p.R277H|FAM73A_uc010orl.2_Missense_Mutation_p.R239H|FAM73A_uc001dhy.1_Missense_Mutation_p.R66H	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	Homo sapiens family with sequence similarity 73, member A (FAM73A), mRNA.	277						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		AGAGCCTATCGTCTCCAAGAG	0.368													9	66					0	0	1	0	0	A	78280851	G	A	78280851	3	1	241	1	0	0	0	0	1	0	0	0	5617	1145	40	1	856	1	FAM73A	1	78280851	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	22943723	78280851	170969770	29	10005											
LPAR3	23566	broad.mit.edu	37	chr1	85331490	85331490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgtccagaagcccctgaCggagaaaccagcggttgaca	12	6	11	12	2	0	4	0	2	0	2	1	5	1	4	4	2	4	1	4	2	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:85331490C>T	uc001dkl.2	-	0	353	c.314G>A	c.(313-315)cGt>cAt	p.R105H	LPAR3_uc009wcj.1_Missense_Mutation_p.R105H	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	105					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle		p.L104F(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						AAGCCCCTGACGGAGAAACCA	0.502													155	211					0	0	1	0	0	T	85331490	C	T	85331490	3	4	241	1	0	0	0	0	1	0	0	0	8906	536	19	1	755	1	LPAR3	1	85331490	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	7050639	85331490	163919131	30	10006											
ZNF644	84146	broad.mit.edu	37	chr1	91382483	91382483	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attagcgtttacaatatgtcGttgtaagtgcttaatccagt	11	16	8	6	2	0	0	0	0	0	0	2	0	1	0	1	0	3	4	1	0	6	7			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:91382483G>A	uc001dnw.3	-	5	4139	c.3856C>T	c.(3856-3858)Cga>Tga	p.R1286*	ZNF644_uc001dnv.3_Nonsense_Mutation_p.R64*|ZNF644_uc001dnx.3_Nonsense_Mutation_p.R64*	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	1286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ACAATATGTCGTTGTAAGTGC	0.423													27	50					0	0	1	0	0	A	91382483	G	A	91382483	4	1	241	1	0	0	0	0	0	1	0	0	18057	1153	40	1	131	1	ZNF644	1	91382483	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	6050993	91382483	157868138	31	10007											
ABCA4	24	broad.mit.edu	37	chr1	94512531	94512531	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgcggtgatctggttctcGtagaaggtgatgttcagacg	9	12	14	6	3	3	4	1	2	2	2	4	4	3	4	0	3	1	3	0	3	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:94512531G>A	uc001dqh.3	-	18	2966	c.2862C>T	c.(2860-2862)taC>taT	p.Y954Y	ABCA4_uc010otn.1_Silent_p.Y880Y	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	954	ABC transporter 1.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCTGGTTCTCGTAGAAGGTGA	0.552													123	186					0	0	1	0	0	A	94512531	G	A	94512531	2	1	241	1	0	0	0	0	0	0	0	1	34	1140	40	1		1	ABCA4	1	94512531	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3130048	94512531	154738090	32	10008											
ALG14	199857	broad.mit.edu	37	chr1	95492780	95492780	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggactgctgaacctcccGgcttcttggaattcggtgaa	8	10	11	12	2	1	2	0	2	1	0	3	4	2	4	3	4	2	2	3	4	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:95492780G>A	uc001dra.2	-	2	378	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W		NM_144988	NP_659425	Q96F25	ALG14_HUMAN	Homo sapiens asparagine-linked glycosylation 14 homolog (S. cerevisiae) (ALG14), mRNA.	109					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	p.R109L(1)		endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		TGAACCTCCCGGCTTCTTGGA	0.453													31	57					0	0	1	0	0	A	95492780	G	A	95492780	3	1	241	1	0	0	0	0	1	0	0	0	516	1115	39	2	333	2	ALG14	1	95492780	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	980249	95492780	153757841	33	10009											
CCDC76	54482	broad.mit.edu	37	chr1	100606421	100606421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttgcaggcttctattttagGtaacattgaaaatttaaagt	13	17	7	4	0	1	1	0	1	1	0	1	1	1	1	0	2	2	3	0	2	7	9			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:100606421G>A	uc001dsv.3	+	6	534	c.515G>A	c.(514-516)gGt>gAt	p.G172D	CCDC76_uc010ouf.2_Non-coding_Transcript|CCDC76_uc009wea.3_Missense_Mutation_p.G172D	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN	Homo sapiens coiled-coil domain containing 76 (CCDC76), mRNA.	172					tRNA processing		metal ion binding|methyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)	21		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)		TCTATTTTAGGTAACATTGAA	0.338													17	46					0	0	1	0	0	A	100606421	G	A	100606421	3	1	241	1	0	0	0	0	1	0	0	0	2850	1261	44	3	541	3	CCDC76	1	100606421	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	5113641	100606421	148644200	34	10010											
DBT	1629	broad.mit.edu	37	chr1	100684291	100684293	+	In_Frame_Del	DEL	TCT	TCT	-																															ctgcaggagtttcaacaacaTcttcttctgaatctggtaac																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:100684291_100684293delTCT	uc001dta.3	-	4	477_479	c.444_446delAGA	c.(442-447)gaagat>gat	p.E148del	DBT_uc010oug.2_5'UTR|DBT_uc021oqo.1_In_Frame_Del_p.E148del	NM_001918	NP_001909	P11182	ODB2_HUMAN	Homo sapiens dihydrolipoamide branched chain transacylase E2 (DBT), nuclear gene encoding mitochondrial protein, mRNA.	148					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TTCAACAACATCTTCTTCTGAAT	0.384													69	136	---	---	---	---						-	100684293	TCT	-	100684291	7	5	241	1	0	1	0	1	0	0	0	0	4258	1435	50	0	1030	0	DBT	1	100684291	In_Frame_Del	DEL	TCT	TCGA-HT-8564-01A-11D-2395-08	77870	100684291	148566330	35	10011											
CELSR2	1952	broad.mit.edu	37	chr1	109801232	109801232	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccacgccaccggaccaCgtggtggtcttcaacgtaca	8	7	11	15	4	2	0	1	0	1	0	2	1	2	1	4	4	2	1	4	4	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:109801232C>T	uc001dxa.4	+	1	3550	c.3489C>T	c.(3487-3489)caC>caT	p.H1163H		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	1163					Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CACCGGACCACGTGGTGGTCT	0.716													7	13					0	0	1	0	0	T	109801232	C	T	109801232	2	4	241	1	0	0	0	0	0	0	0	1	3222	535	19	1		1	CELSR2	1	109801232	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	9116941	109801232	139449389	36	10012											
CHIA	27159	broad.mit.edu	37	chr1	111857960	111857960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtcatcaaattcctgcGccagtatgagtttgacgggc	9	11	10	11	2	3	2	3	2	0	0	4	2	4	2	2	1	1	2	2	1	2	3	rs140031055		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:111857960G>A	uc001eas.3	+	5	540	c.383G>A	c.(382-384)cGc>cAc	p.R128H	CHIA_uc001ear.3_Missense_Mutation_p.R20H|CHIA_uc001eaq.3_Missense_Mutation_p.R20H|CHIA_uc009wgc.3_Missense_Mutation_p.R20H|CHIA_uc001eat.3_Intron|CHIA_uc001eav.3_5'UTR|CHIA_uc001eau.3_Intron|CHIA_uc009wgd.3_Intron	NM_201653	NP_068569	Q9BZP6	CHIA_HUMAN	Homo sapiens chitinase, acidic (CHIA), transcript variant 4, mRNA.	128					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		AAATTCCTGCGCCAGTATGAG	0.547													86	165					0	0	1	0	0	A	111857960	G	A	111857960	3	1	241	1	0	0	0	0	1	0	0	0	3342	1087	38	1	401	1	CHIA	1	111857960	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2056728	111857960	137392661	37	10013											
FAM46C	54855	broad.mit.edu	37	chr1	118166435	118166435	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccttcgcagggtggtgaaCgagagcaccgtgtgtctcat	8	10	13	10	3	1	2	1	1	1	1	4	3	2	2	2	2	2	2	2	2	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:118166435C>T	uc021osq.1	+	0	945	c.945C>T	c.(943-945)aaC>aaT	p.N315N	FAM46C_uc001ehe.3_Silent_p.N315N	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA.	315										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		GGGTGGTGAACGAGAGCACCG	0.527			"Mis, F, O"		MM					Multiple Myeloma(3;1.13e-06)			45	62					0	0	1	0	0	T	118166435	C	T	118166435	2	4	241	1	0	0	0	0	0	0	0	1	5567	535	19	1		1	FAM46C	1	118166435	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	6308475	118166435	131084186	38	10014											
ITGA10	8515	broad.mit.edu	37	chr1	145534934	145534934	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccctcagctactttggcCgaagtgtggatggtcggcta	7	11	13	10	2	1	0	1	0	0	0	2	2	1	1	2	4	3	2	2	4	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:145534934C>T	uc001eoa.3	+	14	1913	c.1837C>T	c.(1837-1839)Cga>Tga	p.R613*	ITGA10_uc010oyv.2_Nonsense_Mutation_p.R482*|ITGA10_uc009wiw.3_Nonsense_Mutation_p.R470*|ITGA10_uc010oyw.2_Nonsense_Mutation_p.R558*	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	613					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	p.G612S(1)|p.R613Q(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTACTTTGGCCGAAGTGTGGA	0.582													39	194					0	0	1	0	0	T	145534934	C	T	145534934	4	4	241	1	0	0	0	0	0	1	0	0	7873	644	23	2	1895	2	ITGA10	1	145534934	Nonsense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	27368499	145534934	103715687	39	10015											
ANXA9	8416	broad.mit.edu	37	chr1	150967084	150967084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caattaccaagtcctgattcGcatccttatctctcgatgtg	9	14	6	12	2	1	1	0	1	1	0	6	2	3	1	3	0	1	1	3	0	4	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:150967084G>A	uc001ewa.2	+	12	1354	c.884G>A	c.(883-885)cGc>cAc	p.R295H		NM_003568	NP_003559	O76027	ANXA9_HUMAN	Homo sapiens annexin A9 (ANXA9), mRNA.	295					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTCCTGATTCGCATCCTTATC	0.468													117	201					0	0	1	0	0	A	150967084	G	A	150967084	3	1	241	1	0	0	0	0	1	0	0	0	725	1087	38	1	926	1	ANXA9	1	150967084	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	5432150	150967084	98283537	40	10016											
SEMA6C	10500	broad.mit.edu	37	chr1	151105813	151105813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgcggagggagagagggCgcgggagccccggagtctcg	8	3	20	10	5	1	1	0	0	1	1	2	6	1	5	2	5	3	0	2	5	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:151105813C>T	uc001ewv.3	-	19	2372	c.2036G>A	c.(2035-2037)cGc>cAc	p.R679H	SEMA6C_uc001ewu.3_Missense_Mutation_p.R647H|SEMA6C_uc001eww.3_Missense_Mutation_p.R639H	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	647						integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGAGAGAGGGCGCGGGAGCCC	0.726													11	25					0	0	1	0	0	T	151105813	C	T	151105813	3	4	241	1	0	0	0	0	1	0	0	0	14041	768	27	1	856	1	SEMA6C	1	151105813	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	138729	151105813	98144808	41	10017											
ZNF687	57592	broad.mit.edu	37	chr1	151261051	151261051	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaatcgctgcagcttcagCgcccaccagcgcatgcataa	10	6	8	17	3	1	0	1	0	0	0	2	0	1	0	3	0	5	5	3	0	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:151261051C>T	uc001exq.3	+	2	2261	c.2163C>T	c.(2161-2163)agC>agT	p.S721S	ZNF687_uc009wmo.3_Silent_p.S721S|ZNF687_uc009wmp.3_Silent_p.S721S	NM_020832	NP_065883	Q8N1G0	ZN687_HUMAN	Homo sapiens zinc finger protein 687 (ZNF687), mRNA.	721					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCAGCTTCAGCGCCCACCAGC	0.572													52	116					0	0	1	0	0	T	151261051	C	T	151261051	2	4	241	1	0	0	0	0	0	0	0	1	18089	767	27	1		1	ZNF687	1	151261051	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	155238	151261051	97989570	42	10018											
FLG	2312	broad.mit.edu	37	chr1	152282395	152282395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggaagtctctgcatgaCgagtgcctgattgtctggag	9	10	14	8	1	2	3	0	2	2	1	3	6	2	5	1	2	2	1	1	2	1	1	rs139975241		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:152282395C>T	uc001ezu.1	-	2	5003	c.4967G>A	c.(4966-4968)cGt>cAt	p.R1656H		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1656	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTGCATGACGAGTGCCTGA	0.567									Ichthyosis				236	448					0	0	1	0	0	T	152282395	C	T	152282395	3	4	241	1	0	0	0	0	1	0	0	0	5922	536	19	1	7222	1	FLG	1	152282395	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1021344	152282395	96968226	43	10019											
LCE1A	353131	broad.mit.edu	37	chr1	152800020	152800020	+	Frame_Shift_Del	DEL	C	C	-																															cccaagtgccctcccaagtgCcccactcctaagtgcccccc																								rs4990424		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:152800020delC	uc010pdw.2	+	0	72	c.72delC	c.(70-72)tgcfs	p.C24fs		NM_178348	NP_848125	Q5T7P2	LCE1A_HUMAN	Homo sapiens late cornified envelope 1A (LCE1A), mRNA.	24	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ctcccaagtgccccactccta	0.652													41	154	---	---	---	---						-	152800020	C	-	152800020	7	5	241	1	0	1	0	1	0	0	0	0	8659	747	26	0	74	0	LCE1A	1	152800020	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	517625	152800020	96450601	44	10020											
PGLYRP3	114771	broad.mit.edu	37	chr1	153276410	153276410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggctgaatatacctgggcGacaggtgacccttctggatg	8	10	14	9	1	1	2	0	2	1	0	1	4	1	3	2	4	1	1	2	4	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:153276410G>A	uc001fbn.1	-	3	505	c.452C>T	c.(451-453)tCg>tTg	p.S151L		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA.	151					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATACCTGGGCGACAGGTGACC	0.552													55	58					0	0	1	0	0	A	153276410	G	A	153276410	3	1	241	1	0	0	0	0	1	0	0	0	11795	1059	37	2	589	2	PGLYRP3	1	153276410	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	476390	153276410	95974211	45	10021											
HCN3	57657	broad.mit.edu	37	chr1	155258080	155258081	+	Frame_Shift_Del	DEL	CT	CT	-																															ccactctcagcctcccaaccCtctctgcctcagcgggcaac																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:155258080_155258081delCT	uc001fjz.1	+	7	2159_2160	c.2151_2152delCT	c.(2149-2154)ccctctfs	p.P717fs	HCN3_uc010pfz.1_Frame_Shift_Del_p.P412fs	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 3 (HCN3), mRNA.	717	Pro-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTCCCAACCCTCTCTGCCTCA	0.698													13	50	---	---	---	---						-	155258081	CT	-	155258080	7	5	241	1	0	1	0	1	0	0	0	0	6998	668	24	0	2181	0	HCN3	1	155258080	Frame_Shift_Del	DEL	CT	TCGA-HT-8564-01A-11D-2395-08	1981670	155258080	93992541	46	10022											
SLAMF8	56833	broad.mit.edu	37	chr1	159802792	159802792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgaaataacctatagctggcGacgggagacaaccatggact	14	6	11	10	3	0	1	0	0	0	1	0	5	0	2	2	3	3	1	2	3	5	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:159802792G>A	uc001fue.4	+	2	704	c.494G>A	c.(493-495)cGa>cAa	p.R165Q		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	Homo sapiens SLAM family member 8 (SLAMF8), mRNA.	165	Ig-like C2-type.					integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					TATAGCTGGCGACGGGAGACA	0.542													26	143					0	0	1	0	0	A	159802792	G	A	159802792	3	1	241	1	0	0	0	0	1	0	0	0	14370	1058	37	2	504	2	SLAMF8	1	159802792	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4544712	159802792	89447829	47	10023											
C1orf114	57821	broad.mit.edu	37	chr1	169364358	169364358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgctgtaactgtttagaaCgcttagcttctagtcggagc	8	13	12	8	2	1	1	0	0	1	1	2	2	1	2	0	2	5	5	0	2	5	6			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:169364358C>T	uc001gga.1	-	5	1625	c.1457G>A	c.(1456-1458)cGt>cAt	p.R486H	BLZF1_uc001gfy.3_Intron|C1orf114_uc001gfz.1_Missense_Mutation_p.R485H|C1orf114_uc009wvq.1_Missense_Mutation_p.R485H	NM_021179	NP_067002	Q5TID7	CA114_HUMAN	Homo sapiens chromosome 1 open reading frame 114 (C1orf114), mRNA.	486										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(3)	22	all_hematologic(923;0.208)					CTGTTTAGAACGCTTAGCTTC	0.398													39	58					0	0	1	0	0	T	169364358	C	T	169364358	3	4	241	1	0	0	0	0	1	0	0	0	1987	536	19	1	76	1	C1orf114	1	169364358	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	9561566	169364358	79886263	48	10024											
DARS2	55157	broad.mit.edu	37	chr1	173826739	173826739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaagtccttccggggacatGacctcatgagcaatacccca	12	7	8	14	1	1	2	1	2	0	0	3	3	3	3	5	2	2	1	5	2	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:173826739G>A	uc001gjh.2	+	16	2405	c.1834G>A	c.(1834-1836)Gac>Aac	p.D612N		NM_018122	NP_060592	Q6PI48	SYDM_HUMAN	Homo sapiens aspartyl-tRNA synthetase 2, mitochondrial (DARS2), nuclear gene encoding mitochondrial protein, mRNA.	612					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	ATP binding|aspartate-tRNA ligase activity|nucleic acid binding			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	CCGGGGACATGACCTCATGAG	0.483													31	122					0	0	1	0	0	A	173826739	G	A	173826739	3	1	241	1	0	0	0	0	1	0	0	0	4242	1290	45	3	1900	3	DARS2	1	173826739	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4462381	173826739	75423882	49	10025											
TNN	63923	broad.mit.edu	37	chr1	175097740	175097740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggctcccagttggtgcccGtttcccacacccttcggact	4	12	9	16	2	0	0	0	0	0	0	3	1	2	1	4	3	1	3	4	3	0	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:175097740G>A	uc001gkl.1	+	14	3301	c.3188G>A	c.(3187-3189)cGt>cAt	p.R1063H		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	1063	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GTTGGTGCCCGTTTCCCACAC	0.527													37	141					0	0	1	0	0	A	175097740	G	A	175097740	3	1	241	1	0	0	0	0	1	0	0	0	16320	1145	40	1	3242	1	TNN	1	175097740	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1271001	175097740	74152881	50	10026											
SOAT1	6646	broad.mit.edu	37	chr1	179310292	179310292	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaacattgggccactggCtatagcaagagttctcatcc	10	12	8	11	0	2	1	2	0	1	1	4	1	3	1	2	2	2	3	2	2	4	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:179310292C>G	uc001gml.3	+	6	858	c.627C>G	c.(625-627)ggC>ggG	p.G209G	SOAT1_uc010pni.2_Silent_p.G144G|SOAT1_uc001gmm.3_Silent_p.G151G|SOAT1_uc010pnj.2_5'UTR|SOAT1_uc010pnk.2_Silent_p.G144G	NM_003101	NP_003092	P35610	SOAT1_HUMAN	Homo sapiens sterol O-acyltransferase 1 (SOAT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	209					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	GGGCCACTGGCTATAGCAAGA	0.428													98	183					0	0	1	0	0	G	179310292	C	G	179310292	2	3	241	1	0	0	0	0	0	0	0	1	14910	784	28	5		5	SOAT1	1	179310292	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4212552	179310292	69940329	51	10027											
PTGS2	5743	broad.mit.edu	37	chr1	186645692	186645692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatactctgttgtgttcccGcagccagattgtggcataca	8	12	10	11	1	1	1	0	0	1	1	2	1	2	1	2	1	3	5	2	1	2	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:186645692G>A	uc001gsb.3	-	6	1014	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	PTGS2_uc009wyo.3_Missense_Mutation_p.R140W	NM_000963	NP_000954	P35354	PGH2_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (PTGS2), mRNA.	293					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity	p.R293L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)|gamma-Homolinolenic acid(DB00154)	TTGTGTTCCCGCAGCCAGATT	0.507													70	95					0	0	1	0	0	A	186645692	G	A	186645692	3	1	241	1	0	0	0	0	1	0	0	0	12756	1086	38	1	953	1	PTGS2	1	186645692	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	7335400	186645692	62604929	52	10028											
PTPRC	5788	broad.mit.edu	37	chr1	198671623	198671623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgctgccttacctgcaCgcacctccaacaccaccatc	8	8	5	20	1	1	0	0	0	1	0	3	0	2	0	6	0	5	4	6	0	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:198671623C>T	uc001gur.1	+	5	721	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C	PTPRC_uc001gut.1_Intron|PTPRC_uc009wze.1_Intron|PTPRC_uc009wzf.1_Intron|PTPRC_uc021pgy.1_Intron|PTPRC_uc010ppg.1_Missense_Mutation_p.R117C|PTPRC_uc001guu.1_Missense_Mutation_p.R224C|PTPRC_uc001guv.1_Non-coding_Transcript|PTPRC_uc001guw.1_Intron	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	181					B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CTTACCTGCACGCACCTCCAA	0.498													125	247					0	0	1	0	0	T	198671623	C	T	198671623	3	4	241	1	0	0	0	0	1	0	0	0	12797	536	19	1	570	1	PTPRC	1	198671623	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	12025931	198671623	50578998	53	10029											
IGFN1	91156	broad.mit.edu	37	chr1	201184276	201184276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcgaggccaccctgaccGtccagggtaaggcccagccc	9	3	13	16	2	0	2	0	1	0	1	1	3	1	2	6	3	2	1	6	3	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:201184276G>A	uc001gwc.3	+	13	9119	c.8989G>A	c.(8989-8991)Gtc>Atc	p.V2997I	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CACCCTGACCGTCCAGGGTAA	0.587													26	37					0	0	1	0	0	A	201184276	G	A	201184276	3	1	241	1	0	0	0	0	1	0	0	0	7590	1145	40	1	9039	1	IGFN1	1	201184276	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2512653	201184276	48066345	54	10030											
NAV1	89796	broad.mit.edu	37	chr1	201757608	201757608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttccagtgagtcccactgCggccaccacgccaagaatca	10	6	8	17	2	1	2	1	1	0	1	3	2	3	2	6	1	1	0	6	1	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:201757608C>T	uc021phi.1	+	9	3355	c.3008C>T	c.(3007-3009)gCg>gTg	p.A1003V	NAV1_uc001gwu.3_Missense_Mutation_p.A1003V|NAV1_uc001gwv.1_Missense_Mutation_p.A511V|NAV1_uc001gww.2_Missense_Mutation_p.A612V|NAV1_uc001gwx.3_Missense_Mutation_p.A612V|NAV1_uc001gwy.1_Missense_Mutation_p.A384V	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	1003					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AGTCCCACTGCGGCCACCACG	0.652													12	202					0	0	1	0	0	T	201757608	C	T	201757608	3	4	241	1	0	0	0	0	1	0	0	0	10183	768	27	1	3103	1	NAV1	1	201757608	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	573332	201757608	47493013	55	10031											
ELF3	1999	broad.mit.edu	37	chr1	201982319	201982319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccccacagatggttttcGtgactgcaagaagggggatc	9	9	13	10	2	0	3	0	1	0	2	3	4	1	4	2	3	1	2	2	3	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:201982319G>A	uc001gxg.4	+	5	3890	c.698G>A	c.(697-699)cGt>cAt	p.R233H	ELF3_uc001gxi.4_Missense_Mutation_p.R233H|ELF3_uc001gxh.4_Missense_Mutation_p.R233H	NM_004433	NP_004424	P78545	ELF3_HUMAN	Homo sapiens E74-like factor 3 (ets domain transcription factor, epithelial-specific ) (ELF3), transcript variant 1, mRNA.	233					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R233C(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GATGGTTTTCGTGACTGCAAG	0.597													44	58					0	0	1	0	0	A	201982319	G	A	201982319	3	1	241	1	0	0	0	0	1	0	0	0	5055	1145	40	1	720	1	ELF3	1	201982319	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	224711	201982319	47268302	56	10032											
ADIPOR1	51094	broad.mit.edu	37	chr1	202914187	202914187	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagctgaggcagagcaCtgcacccaaaaagaacatcc	16	3	11	11	0	0	4	0	1	0	3	1	5	1	4	2	2	4	4	2	2	4	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:202914187C>T	uc001gyq.4	-	4	808	c.541G>A	c.(541-543)Gtg>Atg	p.V181M	ADIPOR1_uc010pqd.2_Missense_Mutation_p.V105M|ADIPOR1_uc001gyr.4_Intron|ADIPOR1_uc001gys.4_Missense_Mutation_p.V181M	NM_015999	NP_057083	Q96A54	ADR1_HUMAN	Homo sapiens adiponectin receptor 1 (ADIPOR1), transcript variant 1, mRNA.	181					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			AGGCAGAGCACTGCACCCAAA	0.448													52	77					0	0	1	0	0	T	202914187	C	T	202914187	3	4	241	1	0	0	0	0	1	0	0	0	318	565	20	3	602	3	ADIPOR1	1	202914187	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	931868	202914187	46336434	57	10033											
FMOD	2331	broad.mit.edu	37	chr1	203311549	203311549	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgcttgatctcgttcccGtccaggcgcagcacctgcag	5	9	11	16	4	1	1	0	1	1	0	4	1	3	1	3	1	3	5	3	1	0	2	rs142981560	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:203311549G>A	uc001gzr.3	-	2	1189	c.1053C>T	c.(1051-1053)gaC>gaT	p.D351D		NM_002023	NP_002014	Q06828	FMOD_HUMAN	Homo sapiens fibromodulin (FMOD), mRNA.	351					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			TCTCGTTCCCGTCCAGGCGCA	0.642											OREG0014119	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	50					0	0	1	0	0	A	203311549	G	A	203311549	2	1	241	1	0	0	0	0	0	0	0	1	5959	1136	40	1		1	FMOD	1	203311549	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	397362	203311549	45939072	58	10034											
DSTYK	25778	broad.mit.edu	37	chr1	205138721	205138721	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgataaagcggtgatctttcGctctccattctcctggttga	7	14	9	11	3	3	2	0	2	3	0	6	3	3	2	2	2	1	2	2	2	2	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:205138721G>A	uc001hbw.3	-	2	958	c.894C>T	c.(892-894)agC>agT	p.S298S	DSTYK_uc001hbx.3_Silent_p.S298S|DSTYK_uc001hby.1_Intron	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA.	298						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GTGATCTTTCGCTCTCCATTC	0.483													16	75					0	0	1	0	0	A	205138721	G	A	205138721	2	1	241	1	0	0	0	0	0	0	0	1	4785	1078	38	1		1	DSTYK	1	205138721	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1827172	205138721	44111900	59	10035											
RAB7L1	8934	broad.mit.edu	37	chr1	205740772	205740772	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcgtgtcatagaggtgaagCgctcctgccctggggagaaa	10	8	14	9	2	1	3	1	1	0	2	3	4	2	3	2	3	2	1	2	3	3	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:205740772C>T	uc001hdf.4	-	3	546	c.206G>A	c.(205-207)cGc>cAc	p.R69H	RAB7L1_uc009xbp.3_5'UTR|RAB7L1_uc001hde.4_Missense_Mutation_p.R69H|RAB7L1_uc010prr.2_Missense_Mutation_p.R45H|RAB7L1_uc009xbq.3_Intron	NM_003929	NP_001129136	O14966	RAB7L_HUMAN	Homo sapiens RAB7, member RAS oncogene family-like 1 (RAB7L1), transcript variant 1, mRNA.	69					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.E68Q(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AGAGGTGAAGCGCTCCTGCCC	0.517													62	91					0	0	1	0	0	T	205740772	C	T	205740772	3	4	241	1	0	0	0	0	1	0	0	0	12955	768	27	1	417	1	RAB7L1	1	205740772	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	602051	205740772	43509849	60	10036											
CR1	1378	broad.mit.edu	37	chr1	207793265	207793265	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtttatgaatggaatctcGaaggagttagaaatgaaaaa	17	11	10	3	1	1	3	0	2	1	1	2	6	1	5	0	2	0	2	0	2	8	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:207793265G>A	uc001hfy.3	+	34	5897	c.5757G>A	c.(5755-5757)tcG>tcA	p.S1919S	CR1_uc001hfx.3_Silent_p.S2369S|CR1_uc021pij.1_Silent_p.S1919S	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1919	Sushi 30.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATGGAATCTCGAAGGAGTTAG	0.363													6	14					0	0	1	0	0	A	207793265	G	A	207793265	2	1	241	1	0	0	0	0	0	0	0	1	3840	1045	37	2		2	CR1	1	207793265	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2052493	207793265	41457356	61	10037											
CR1	1378	broad.mit.edu	37	chr1	207793369	207793369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctggagccagtgccaggCggatgacagatgggaccctc	8	6	14	13	1	0	2	0	1	0	1	2	5	1	5	4	4	2	0	4	4	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:207793369C>T	uc001hfy.3	+	34	6001	c.5861C>T	c.(5860-5862)gCg>gTg	p.A1954V	CR1_uc001hfx.3_Missense_Mutation_p.A2404V|CR1_uc021pij.1_Missense_Mutation_p.A1954V	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1954	Sushi 30.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.W1954*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CAGTGCCAGGCGGATGACAGA	0.468											OREG0014194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	34					0	0	1	0	0	T	207793369	C	T	207793369	3	4	241	1	0	0	0	0	1	0	0	0	3840	768	27	1	7381	1	CR1	1	207793369	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	104	207793369	41457252	62	10038											
IARS2	55699	broad.mit.edu	37	chr1	220307791	220307791	+	Frame_Shift_Del	DEL	G	G	-																															tggaaggaaaagaccagctcGggggttggtttcagtcatcc																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:220307791delG	uc001hmc.3	+	14	1989	c.1885delG	c.(1885-1887)gggfs	p.G629fs		NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial (IARS2), nuclear gene encoding mitochondrial protein, mRNA.	629					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	AGACCAGCTCGGGGGTTGGTT	0.383													8	147	---	---	---	---						-	220307791	G	-	220307791	7	5	241	1	0	1	0	1	0	0	0	0	7474	1116	39	0	1943	0	IARS2	1	220307791	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	12514422	220307791	28942830	63	10039											
MARK1	4139	broad.mit.edu	37	chr1	220791991	220791991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tattaaggaactgcgagagcGagttttacgagggaagtacc	13	9	13	6	3	0	1	0	0	0	1	0	6	0	3	1	2	5	2	1	2	6	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:220791991G>A	uc009xdw.3	+	8	1400	c.803G>A	c.(802-804)cGa>cAa	p.R268Q	MARK1_uc001hmn.4_Missense_Mutation_p.R268Q|MARK1_uc010pun.2_Missense_Mutation_p.R268Q|MARK1_uc001hmm.4_Missense_Mutation_p.R246Q	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA.	268	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CTGCGAGAGCGAGTTTTACGA	0.353													31	72					0	0	1	0	0	A	220791991	G	A	220791991	3	1	241	1	0	0	0	0	1	0	0	0	9312	1058	37	2	837	2	MARK1	1	220791991	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	484200	220791991	28458630	64	10040											
DISP1	84976	broad.mit.edu	37	chr1	223176292	223176293	+	Frame_Shift_Del	DEL	TG	TG	-																															tgtgattgtccttttagttaTgtgtgtctacaccaagtcca																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:223176292_223176293delTG	uc001hnu.2	+	9	1879_1880	c.1553_1554delTG	c.(1552-1554)atgfs	p.M518fs		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	518	SSD.				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CTTTTAGTTATGTGTGTCTACA	0.361													30	143	---	---	---	---						-	223176293	TG	-	223176292	7	5	241	1	0	1	0	1	0	0	0	0	4539	1464	51	0	1579	0	DISP1	1	223176292	Frame_Shift_Del	DEL	TG	TCGA-HT-8564-01A-11D-2395-08	2384301	223176292	26074329	65	10041											
OBSCN	84033	broad.mit.edu	37	chr1	228471282	228471282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtgttcacgtgcaagaCggagcaccccgcggccacag	9	5	13	14	4	1	1	1	0	0	1	1	2	1	2	3	2	3	4	3	2	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:228471282C>T	uc009xez.1	+	32	8860	c.8816C>T	c.(8815-8817)aCg>aTg	p.T2939M	OBSCN_uc001hsn.3_Missense_Mutation_p.T2939M|OBSCN_uc001hsp.1_Missense_Mutation_p.T638M|OBSCN_uc001hsq.1_Missense_Mutation_p.T195M	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2939	Ig-like 29.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACGTGCAAGACGGAGCACCCC	0.632													30	53					0	0	1	0	0	T	228471282	C	T	228471282	3	4	241	1	0	0	0	0	1	0	0	0	10812	536	19	1	8942	1	OBSCN	1	228471282	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5294990	228471282	20779339	66	10042											
SIPA1L2	57568	broad.mit.edu	37	chr1	232574983	232574983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtcaggcccagagacgtcgGcagcatcagcccactgctcg	8	5	12	16	4	2	1	2	0	0	1	4	2	2	1	2	2	3	3	2	2	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:232574983G>A	uc001hvg.3	-	12	4060	c.3902C>T	c.(3901-3903)gCc>gTc	p.A1301V	SIPA1L2_uc001hvf.3_Missense_Mutation_p.A375V	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	1301					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AGAGACGTCGGCAGCATCAGC	0.667													12	137					0	0	1	0	0	A	232574983	G	A	232574983	3	1	241	1	0	0	0	0	1	0	0	0	14330	1203	42	3	1302	3	SIPA1L2	1	232574983	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4103701	232574983	16675638	67	10043											
KIF26B	55083	broad.mit.edu	37	chr1	245848743	245848743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggcggggagagctcctgcGaagaaggccgcatgcgcagg	8	3	18	12	5	0	2	0	0	0	2	1	4	1	2	3	5	3	3	3	5	2	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:245848743G>A	uc001ibf.1	+	11	2898	c.2458G>A	c.(2458-2460)Gaa>Aaa	p.E820K	KIF26B_uc001ibg.1_Missense_Mutation_p.E438K|KIF26B_uc001ibh.1_Missense_Mutation_p.E62K	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	820					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GAGCTCCTGCGAAGAAGGCCG	0.652													18	36					0	0	1	0	0	A	245848743	G	A	245848743	3	1	241	1	0	0	0	0	1	0	0	0	8295	1059	37	2	2504	2	KIF26B	1	245848743	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	13273760	245848743	3401878	68	10044											
PXDN	7837	broad.mit.edu	37	chr2	1684083	1684083	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtaggttttcagcaaatcCgccaaccacaggatttcaca	12	9	8	12	2	2	0	2	0	0	0	3	1	3	1	3	2	2	3	3	2	3	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:1684083C>T	uc002qxa.3	-	6	676	c.612G>A	c.(610-612)gcG>gcA	p.A204A	PXDN_uc002qxb.1_Silent_p.A204A|PXDN_uc002qxc.1_Silent_p.A21A	NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	204	LRRCT.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCAGCAAATCCGCCAACCACA	0.587													22	19					0	0	1	0	0	T	1684083	C	T	1684083	2	4	241	1	0	0	0	0	0	0	0	1	12847	639	23	2		2	PXDN	2	1684083	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08		1684083	241515290	69	10045											
ODC1	4953	broad.mit.edu	37	chr2	10582006	10582006	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattaaatgatccatagacGccatcattcacataatacat	17	11	3	10	1	2	2	2	1	0	1	3	2	3	2	2	0	1	0	2	0	6	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:10582006G>A	uc010exg.1	-	9	1397	c.963C>T	c.(961-963)ggC>ggT	p.G321G	ODC1_uc002rao.1_Silent_p.G321G|ODC1_uc010yjd.1_Silent_p.G191G	NM_002539	NP_002530	P11926	DCOR_HUMAN	Homo sapiens ornithine decarboxylase 1 (ODC1), mRNA.	321					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	ATCCATAGACGCCATCATTCA	0.378													34	236					0	0	1	0	0	A	10582006	G	A	10582006	2	1	241	1	0	0	0	0	0	0	0	1	10825	1074	38	1		1	ODC1	2	10582006	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	8897923	10582006	232617367	70	10046											
PFN4	375189	broad.mit.edu	37	chr2	24344101	24344103	+	In_Frame_Del	DEL	CTT	CTT	-																															ttttcccttgaaatacagtcCttctcttcgggcttgcaaag																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:24344101_24344103delCTT	uc002rfa.1	-	2	361_363	c.185_187delAAG	c.(184-189)gaagga>gga	p.E62del	LOC375190_uc002rew.3_Intron|LOC375190_uc010ykl.2_5'Flank	NM_199346	NP_955378	Q8NHR9	PROF4_HUMAN	Homo sapiens profilin family, member 4 (PFN4), mRNA.	62					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin binding			breast(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAATACAGTCCTTCTCTTCGGGC	0.453													93	103	---	---	---	---						-	24344103	CTT	-	24344101	7	5	241	1	0	1	0	1	0	0	0	0	11770	690	24	0	214	0	PFN4	2	24344101	In_Frame_Del	DEL	CTT	TCGA-HT-8564-01A-11D-2395-08	13762095	24344101	218855272	71	10047											
DNMT3A	1788	broad.mit.edu	37	chr2	25464537	25464537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacctccgaggcaatgtagCggtccacctgaatgcccaag	11	6	10	14	2	0	1	0	1	0	0	2	2	2	1	5	2	2	2	5	2	4	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:25464537C>T	uc002rgc.3	-	16	2233	c.1976G>A	c.(1975-1977)cGc>cAc	p.R659H	DNMT3A_uc002rgd.3_Missense_Mutation_p.R659H|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgb.3_Missense_Mutation_p.R470H	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.	659					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.R659H(2)|p.R470H(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCAATGTAGCGGTCCACCTG	0.627			"Mis, F, N, S"		AML								31	28					0	0	1	0	0	T	25464537	C	T	25464537	3	4	241	1	0	0	0	0	1	0	0	0	4676	768	27	1	790	1	DNMT3A	2	25464537	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1120436	25464537	217734836	72	10048											
HADHA	3030	broad.mit.edu	37	chr2	26414365	26414365	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaacctcccagacaaggCgggaagccaagcccaaagac	15	1	10	15	1	0	2	0	0	0	2	1	4	1	3	5	2	3	0	5	2	5	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:26414365C>T	uc002rgy.3	-	18	2263	c.2133G>A	c.(2131-2133)ccG>ccA	p.P711P	HADHA_uc010yks.2_Silent_p.P624P	NM_000182	NP_000173	P40939	ECHA_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit (HADHA), nuclear gene encoding mitochondrial protein, mRNA.	711					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	CCAGACAAGGCGGGAAGCCAA	0.552													47	43					0	0	1	0	0	T	26414365	C	T	26414365	2	4	241	1	0	0	0	0	0	0	0	1	6943	755	27	1		1	HADHA	2	26414365	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	949828	26414365	216785008	73	10049											
OTOF	9381	broad.mit.edu	37	chr2	26700618	26700618	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcgttcaggccttcttcCtgtgaatcaggagtgtgggt	6	14	13	8	1	3	1	2	1	1	0	5	2	4	2	2	3	0	1	2	3	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:26700618C>T	uc002rhk.3	-	19	2342	c.2215_splice	c.e19-1	p.E739_splice	OTOF_uc002rhh.3_Splice_Site|OTOF_uc002rhi.3_Silent_p.Q48Q|OTOF_uc002rhj.3_Splice_Site	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	739					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCTTCTTCCTGTGAATCAG	0.607													23	42					0	0	1	0	0	T	26700618	C	T	26700618	5	4	241	1	0	0	0	0	0	0	1	0	11303	695	24	3	4076	3	OTOF	2	26700618	Splice_Site	SNP	C	TCGA-HT-8564-01A-11D-2395-08	286253	26700618	216498755	74	10050											
TRIM54	57159	broad.mit.edu	37	chr2	27529116	27529116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtggagctggcagggcGgccggagccaggctatgaga	9	4	20	8	2	0	1	0	1	0	1	0	5	0	3	2	7	2	3	2	7	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:27529116G>A	uc002rjo.3	+	6	1205	c.902G>A	c.(901-903)cGg>cAg	p.R301Q	TRIM54_uc002rjn.3_Missense_Mutation_p.R343Q	NM_187841	NP_912730	Q9BYV2	TRI54_HUMAN	Homo sapiens tripartite motif containing 54 (TRIM54), transcript variant 2, mRNA.	301	COS.				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGCAGGGCGGCCGGAGCCA	0.642													51	111					0	0	1	0	0	A	27529116	G	A	27529116	3	1	241	1	0	0	0	0	1	0	0	0	16525	1116	39	2	1058	2	TRIM54	2	27529116	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	828498	27529116	215670257	75	10051											
PLB1	151056	broad.mit.edu	37	chr2	28785936	28785936	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagccggctgacatcaaCgtaattggagccctgggtga	10	8	13	10	2	1	3	1	3	0	0	1	4	1	4	2	3	3	2	2	3	3	2	rs147698393		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:28785936C>T	uc002rmb.2	+	17	1220	c.1176C>T	c.(1174-1176)aaC>aaT	p.N392N	PLB1_uc010ezj.2_Silent_p.N403N|PLB1_uc002rmc.3_Silent_p.N80N	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	392	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CTGACATCAACGTAATTGGAG	0.488													20	85					0	0	1	0	0	T	28785936	C	T	28785936	2	4	241	1	0	0	0	0	0	0	0	1	12024	535	19	1		1	PLB1	2	28785936	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1256820	28785936	214413437	76	10052											
FAM179A	165186	broad.mit.edu	37	chr2	29240816	29240816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccgctttgcccgccacGcctcaggtgggcaggcccga	5	5	13	18	4	1	0	1	0	0	0	1	1	1	0	6	3	2	2	6	3	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:29240816G>A	uc010ezl.3	+	9	1705	c.1354G>A	c.(1354-1356)Gcc>Acc	p.A452T	FAM179A_uc010ymm.2_Intron|FAM179A_uc002rmr.4_Intron	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	452							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGCCCGCCACGCCTCAGGTGG	0.672													9	21					0	0	1	0	0	A	29240816	G	A	29240816	3	1	241	1	0	0	0	0	1	0	0	0	5505	1087	38	1	1388	1	FAM179A	2	29240816	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	454880	29240816	213958557	77	10053											
SRBD1	55133	broad.mit.edu	37	chr2	45812861	45812861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttatcatcattaaagagaCgaatgatgttggcacaaacc	15	11	8	7	1	2	2	2	1	0	1	2	4	2	2	1	1	1	3	1	1	5	3	rs145594682		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:45812861C>T	uc002rus.3	-	4	777	c.701G>A	c.(700-702)cGt>cAt	p.R234H		NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	234					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		RNA binding|hydrolase activity, acting on ester bonds			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			ATTAAAGAGACGAATGATGTT	0.323													31	81					0	0	1	0	0	T	45812861	C	T	45812861	3	4	241	1	0	0	0	0	1	0	0	0	15132	536	19	1	2354	1	SRBD1	2	45812861	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	16572045	45812861	197386512	78	10054											
EPAS1	2034	broad.mit.edu	37	chr2	46574124	46574124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcctctgccccacagtGtgagctcccatctggacaag	8	8	10	15	0	2	1	0	1	2	0	3	2	3	2	4	1	4	2	4	1	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:46574124G>A	uc002ruv.3	+	1	649	c.139G>A	c.(139-141)Gtg>Atg	p.V47M		NM_001430	NP_001421	Q99814	EPAS1_HUMAN	Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.	47	Helix-loop-helix motif.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	p.S46S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GCCCCACAGTGTGAGCTCCCA	0.617													13	214					0	0	1	0	0	A	46574124	G	A	46574124	3	1	241	1	0	0	0	0	1	0	0	0	5150	1377	48	3	145	3	EPAS1	2	46574124	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	761263	46574124	196625249	79	10055											
VPS54	51542	broad.mit.edu	37	chr2	64199337	64199339	+	In_Frame_Del	DEL	AGG	AGG	-																															gtcctttcgaaggtatctttAggaggacaaatattcttgca																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:64199337_64199339delAGG	uc002scq.3	-	3	581_583	c.418_420delCCT	c.(418-420)cctdel	p.P140del	VPS54_uc002scp.3_In_Frame_Del_p.P128del|VPS54_uc010fct.3_In_Frame_Del_p.P23del	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN	Homo sapiens vacuolar protein sorting 54 homolog (S. cerevisiae) (VPS54), transcript variant 1, mRNA.	140					protein transport|retrograde transport, endosome to Golgi			p.P140T(2)		endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						AGGTATCTTTAGGAGGACAAATA	0.286													14	47	---	---	---	---						-	64199339	AGG	-	64199337	7	5	241	1	0	1	0	1	0	0	0	0	17213	407	15	0	2593	0	VPS54	2	64199337	In_Frame_Del	DEL	AGG	TCGA-HT-8564-01A-11D-2395-08	17625213	64199337	179000036	80	10056											
CLEC4F	165530	broad.mit.edu	37	chr2	71043766	71043766	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatagatctcagcattagcGttctttaaactgctattggc	11	14	7	9	1	2	1	1	0	2	1	3	1	2	1	0	1	4	3	0	1	5	7	rs142908853		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:71043766G>A	uc002shf.3	-	3	824	c.747C>T	c.(745-747)aaC>aaT	p.N249N	CLEC4F_uc010yqv.1_Silent_p.N249N	NM_173535	NP_775806	Q8N1N0	CLC4F_HUMAN	Homo sapiens C-type lectin domain family 4, member F (CLEC4F), mRNA.	249					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CAGCATTAGCGTTCTTTAAAC	0.418													31	88					0	0	1	0	0	A	71043766	G	A	71043766	2	1	241	1	0	0	0	0	0	0	0	1	3516	1136	40	1		1	CLEC4F	2	71043766	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	6844429	71043766	172155607	81	10057											
DYSF	8291	broad.mit.edu	37	chr2	71753455	71753455	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttctgcctgaaggtcttcCgggccgaggacttgccgcag	6	9	13	13	3	2	1	0	1	2	0	3	3	3	2	4	3	2	1	4	3	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:71753455C>T	uc010fen.3	+	12	1396	c.1255C>T	c.(1255-1257)Cgg>Tgg	p.R419W	DYSF_uc010fei.3_Missense_Mutation_p.R418W|DYSF_uc010feh.3_Missense_Mutation_p.R387W|DYSF_uc002sig.4_Missense_Mutation_p.R387W|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.R418W|DYSF_uc010fee.3_Missense_Mutation_p.R387W|DYSF_uc010fef.3_Missense_Mutation_p.R418W|DYSF_uc002sie.3_Missense_Mutation_p.R387W|DYSF_uc010feo.3_Missense_Mutation_p.R419W|DYSF_uc010fej.3_Missense_Mutation_p.R388W|DYSF_uc010fel.3_Missense_Mutation_p.R388W|DYSF_uc010fem.3_Missense_Mutation_p.R388W|DYSF_uc002sif.3_Missense_Mutation_p.R388W|DYSF_uc010fek.3_Missense_Mutation_p.R419W	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	387	C2 3.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAAGGTCTTCCGGGCCGAGGA	0.672													83	246					0	0	1	0	0	T	71753455	C	T	71753455	3	4	241	1	0	0	0	0	1	0	0	0	4859	643	23	2	1397	2	DYSF	2	71753455	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	709689	71753455	171445918	82	10058											
CYP26B1	56603	broad.mit.edu	37	chr2	72359683	72359683	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgttcacgtctttgaacacGggcgctgtgtcatgggtgtc	6	12	13	10	4	3	1	2	1	1	0	4	1	3	1	0	2	1	2	0	2	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:72359683G>A	uc002sih.1	-	5	1212	c.1212C>T	c.(1210-1212)ccC>ccT	p.P404P	CYP26B1_uc010yra.1_Silent_p.P387P|CYP26B1_uc010yrb.1_Silent_p.P329P	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily B, polypeptide 1 (CYP26B1), mRNA.	404					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CTTTGAACACGGGCGCTGTGT	0.612													23	37					0	0	1	0	0	A	72359683	G	A	72359683	2	1	241	1	0	0	0	0	0	0	0	1	4156	1103	39	2		2	CYP26B1	2	72359683	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	606228	72359683	170839690	83	10059											
ALMS1	7840	broad.mit.edu	37	chr2	73717091	73717091	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaaaatcagcaaaggtcttCgaatgccattcgatgaaaag	16	9	8	8	2	3	1	2	1	1	0	5	3	3	1	1	1	2	1	1	1	6	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:73717091C>T	uc002sje.1	+	9	8113	c.8002C>T	c.(8002-8004)Cga>Tga	p.R2668*	ALMS1_uc002sjf.1_Nonsense_Mutation_p.R2626*|ALMS1_uc002sjg.3_Nonsense_Mutation_p.R2056*|ALMS1_uc002sjh.1_Nonsense_Mutation_p.R2056*	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2668					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CAAAGGTCTTCGAATGCCATT	0.378													95	176					0	0	1	0	0	T	73717091	C	T	73717091	4	4	241	1	0	0	0	0	0	1	0	0	535	876	31	2	8040	2	ALMS1	2	73717091	Nonsense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1357408	73717091	169482282	84	10060											
DCTN1	1639	broad.mit.edu	37	chr2	74595114	74595114	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttactgctcatagcggtgtaGcgtggcctgcagcaggctca	7	10	13	11	2	2	0	2	0	0	0	2	0	2	0	1	3	6	5	1	3	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:74595114G>A	uc002skx.3	-	16	2317	c.1999C>T	c.(1999-2001)Cta>Tta	p.L667L	DCTN1_uc002skv.3_Silent_p.L533L|DCTN1_uc002sku.3_Silent_p.L533L|DCTN1_uc002skw.2_Silent_p.L660L|DCTN1_uc010ffd.3_Silent_p.L647L|DCTN1_uc002sky.3_Silent_p.L630L	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	667					G2/M transition of mitotic cell cycle|cell death|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TAGCGGTGTAGCGTGGCCTGC	0.607													25	94					0	0	1	0	0	A	74595114	G	A	74595114	2	1	241	1	0	0	0	0	0	0	0	1	4306	962	34	3		3	DCTN1	2	74595114	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	878023	74595114	168604259	85	10061											
TLX2	3196	broad.mit.edu	37	chr2	74742798	74742798	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggacgcgccgcataggcCacccctaccaaaaccggacc	10	3	10	18	4	0	0	0	0	0	0	0	2	0	2	7	3	2	1	7	3	4	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:74742798C>A	uc002smb.2	+	1	777	c.439C>A	c.(439-441)Cac>Aac	p.H147N	TLX2_uc002sma.2_Missense_Mutation_p.P17Q	NM_016170	NP_057254	O43763	TLX2_HUMAN	Homo sapiens T-cell leukemia homeobox 2 (TLX2), mRNA.	147						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|ovary(1)	2						CCGCATAGGCCACCCCTACCA	0.652													36	116					4.14481e-20	4.24349e-20	1	1	0	A	74742798	C	A	74742798	3	1	241	1	0	0	0	0	1	0	0	0	15958	594	21	5	445	5	TLX2	2	74742798	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	147684	74742798	168456575	86	10062											
HK2	3099	broad.mit.edu	37	chr2	75107689	75107689	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgtgtgtgctaccccggaCggcacaggtacacggcaggg	8	6	15	12	4	0	0	0	0	0	0	0	1	0	1	2	5	4	4	2	5	3	3	rs144796715		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:75107689C>T	uc002snd.3	+	9	3489	c.1563C>T	c.(1561-1563)gaC>gaT	p.D521D		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	521	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CTACCCCGGACGGCACAGGTA	0.577													9	31					0	0	1	0	0	T	75107689	C	T	75107689	2	4	241	1	0	0	0	0	0	0	0	1	7191	535	19	1		1	HK2	2	75107689	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	364891	75107689	168091684	87	10063											
TCF7L1	83439	broad.mit.edu	37	chr2	85531438	85531438	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggcacccttaccccgccctCgccatgaacgcctcgatgtc	6	7	8	20	5	0	1	0	1	0	0	3	2	0	1	6	1	2	1	6	1	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:85531438C>T	uc002soy.3	+	6	1047	c.822C>T	c.(820-822)ctC>ctT	p.L274L		NM_031283	NP_112573	Q9HCS4	TF7L1_HUMAN	Homo sapiens transcription factor 7-like 1 (T-cell specific, HMG-box) (TCF7L1), mRNA.	274	Pro-rich.				Wnt receptor signaling pathway|chromatin organization|regulation of Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						ACCCCGCCCTCGCCATGAACG	0.592													67	73					0	0	1	0	0	T	85531438	C	T	85531438	2	4	241	1	0	0	0	0	0	0	0	1	15694	871	31	2		2	TCF7L1	2	85531438	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	10423749	85531438	157667935	88	10064											
SMYD1	150572	broad.mit.edu	37	chr2	88387390	88387390	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcccacaggctggcggcGcgcatcatgtggcgggtgga	5	7	16	13	4	1	0	1	0	0	0	2	1	2	1	2	6	0	2	2	6	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:88387390G>A	uc002ssr.3	+	2	409	c.324G>A	c.(322-324)gcG>gcA	p.A108A	SMYD1_uc002ssq.2_Intron	NM_198274	NP_938015	Q8NB12	SMYD1_HUMAN	Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA.	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.A107V(1)		NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GGCTGGCGGCGCGCATCATGT	0.607													14	18					0	0	1	0	0	A	88387390	G	A	88387390	2	1	241	1	0	0	0	0	0	0	0	1	14821	1074	38	1		1	SMYD1	2	88387390	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2855952	88387390	154811983	89	10065											
FAHD2B	151313	broad.mit.edu	37	chr2	97749725	97749725	+	Frame_Shift_Del	DEL	G	G	-																															tcctgaatacaccgacacctGggggggtcccagttaggatg																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:97749725delG	uc002sxm.3	-	6	993	c.842delC	c.(841-843)ccafs	p.P281fs		NM_199336	NP_955368	Q6P2I3	FAH2B_HUMAN	Homo sapiens fumarylacetoacetate hydrolase domain containing 2B (FAHD2B), mRNA.	281							hydrolase activity|metal ion binding	p.P280P(1)		kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						ACCGACACCTGGGGGGGTCCC	0.552													16	52	---	---	---	---						-	97749725	G	-	97749725	7	5	241	1	0	1	0	1	0	0	0	0	5374	1348	47	0	110	0	FAHD2B	2	97749725	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	9362335	97749725	145449648	90	10066											
REV1	51455	broad.mit.edu	37	chr2	100022891	100022891	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgactgaactgatgggCgactgggacatgtggaaggg	9	8	18	6	1	0	3	0	3	0	0	0	6	0	5	0	5	1	1	0	5	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:100022891C>T	uc002tad.3	-	15	2722	c.2510G>A	c.(2509-2511)cGc>cAc	p.R837H	REV1_uc002tac.3_Missense_Mutation_p.R836H	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.	837					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AACTGATGGGCGACTGGGACA	0.453								Direct reversal of damage					22	41					0	0	1	0	0	T	100022891	C	T	100022891	3	4	241	1	0	0	0	0	1	0	0	0	13239	768	27	1	1277	1	REV1	2	100022891	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2273166	100022891	143176482	91	10067											
IL18R1	8809	broad.mit.edu	37	chr2	103013337	103013337	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcttgcctgttctttcCgagtcttaatcttcagaaac	9	15	7	10	1	5	1	1	0	4	1	6	3	6	1	2	0	2	1	2	0	3	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:103013337C>T	uc002tbw.4	+	10	1767	c.1617C>T	c.(1615-1617)tcC>tcT	p.S539S	IL18R1_uc010ywd.2_Silent_p.S383S|IL18R1_uc010fiy.3_Silent_p.S539S|IL18R1_uc010ywc.2_Silent_p.S538S	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	539					innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CTGTTCTTTCCGAGTCTTAAT	0.413													20	42					0	0	1	0	0	T	103013337	C	T	103013337	2	4	241	1	0	0	0	0	0	0	0	1	7647	639	23	2		2	IL18R1	2	103013337	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2990446	103013337	140186036	92	10068											
RANBP2	5903	broad.mit.edu	37	chr2	109383056	109383056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaccagtagttcaaatgcccGaaaaagtagaacttgtaaca	18	8	7	8	1	1	1	1	0	0	1	1	2	1	1	2	0	4	4	2	0	8	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:109383056G>A	uc002tem.4	+	19	6187	c.6061G>A	c.(6061-6063)Gaa>Aaa	p.E2021K		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	2021	RanBD1 2.				carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	Ran GTPase binding|peptidyl-prolyl cis-trans isomerase activity|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TCAAATGCCCGAAAAAGTAGA	0.388													325	373					0	0	1	0	0	A	109383056	G	A	109383056	3	1	241	1	0	0	0	0	1	0	0	0	13028	1059	37	2	6139	2	RANBP2	2	109383056	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	6369719	109383056	133816317	93	10069											
POLR1B	84172	broad.mit.edu	37	chr2	113322007	113322007	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctaccctgtcctgctggaCggtgtcatggttggctgggt	3	13	15	10	1	1	0	1	0	0	0	2	1	2	1	2	5	3	4	2	5	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:113322007C>T	uc002thw.2	+	9	2257	c.1677C>T	c.(1675-1677)gaC>gaT	p.D559D	POLR1B_uc010fkn.2_Silent_p.D503D|POLR1B_uc002thx.2_Silent_p.D420D|POLR1B_uc010fko.2_Intron|POLR1B_uc010fkp.2_5'UTR|POLR1B_uc002thy.2_Silent_p.D420D|POLR1B_uc010yxo.1_Silent_p.D336D	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA.	559					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TCCTGCTGGACGGTGTCATGG	0.502													74	135					0	0	1	0	0	T	113322007	C	T	113322007	2	4	241	1	0	0	0	0	0	0	0	1	12210	535	19	1		1	POLR1B	2	113322007	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3938951	113322007	129877366	94	10070											
EN1	2019	broad.mit.edu	37	chr2	119600797	119600799	+	In_Frame_Del	DEL	TTC	TTC	-																															gccgcttgtcctccttctcgTtcttcttcttcttcagcttc																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:119600797_119600799delTTC	uc002tlm.3	-	1	1910_1912	c.894_896delGAA	c.(892-897)aagaac>aac	p.K298del		NM_001426	NP_001417	Q05925	HME1_HUMAN	Homo sapiens engrailed homeobox 1 (EN1), mRNA.	298					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						CTCCTTCTCGTTCTTCTTCTTCT	0.68													6	11	---	---	---	---						-	119600799	TTC	-	119600797	7	5	241	1	0	1	0	1	0	0	0	0	5109	1725	60	0	286	0	EN1	2	119600797	In_Frame_Del	DEL	TTC	TCGA-HT-8564-01A-11D-2395-08	6278790	119600797	123598576	95	10071											
TMEM177	80775	broad.mit.edu	37	chr2	120439264	120439264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacacccagcgggaacatcGtccccagacacttgttccga	11	7	8	15	3	0	1	0	0	0	1	3	3	2	2	4	1	3	1	4	1	2	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:120439264G>A	uc021vnk.1	+	0	835	c.835G>A	c.(835-837)Gtc>Atc	p.V279I	TMEM177_uc002tme.2_Intron|TMEM177_uc010flg.1_Missense_Mutation_p.V279I|TMEM177_uc002tmc.1_Missense_Mutation_p.V279I|TMEM177_uc002tmd.2_Missense_Mutation_p.V279I|TMEM177_uc010flh.3_Intron	NM_030577	NP_085054	Q53S58	TM177_HUMAN	Homo sapiens transmembrane protein 177 (TMEM177), transcript variant 2, mRNA.	279						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CGGGAACATCGTCCCCAGACA	0.582													95	95					0	0	1	0	0	A	120439264	G	A	120439264	3	1	241	1	0	0	0	0	1	0	0	0	16091	1145	40	1	837	1	TMEM177	2	120439264	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	838467	120439264	122760109	96	10072											
POTEF	728378	broad.mit.edu	37	chr2	130872806	130872806	+	Frame_Shift_Del	DEL	T	T	-																															cctttatcagagctgtcctcTttttgttgtcaaggacatta																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:130872806delT	uc010fmh.2	-	3	1017	c.617delA	c.(616-618)aagfs	p.K206fs		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	206						cell cortex	ATP binding	p.K206R(3)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AGCTGTCCTCTTTTTGTTGTC	0.403													28	86	---	---	---	---						-	130872806	T	-	130872806	7	5	241	1	0	1	0	1	0	0	0	0	12265	1609	56	0	2666	0	POTEF	2	130872806	Frame_Shift_Del	DEL	T	TCGA-HT-8564-01A-11D-2395-08	10433542	130872806	112326567	97	10073											
POTEE	445582	broad.mit.edu	37	chr2	132021077	132021078	+	Frame_Shift_Ins	INS	-	-	A																															tggaggatattgaaagtgtgINSaaaaaaaagaatgataatct																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:132021077_132021078insA	uc002tsn.2	+	14	2101_2102	c.2049_2050insA	c.(2047-2052)gtgaaafs	p.V683fs	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Frame_Shift_Ins_p.V283fs|POTEE_uc002tsl.2_Frame_Shift_Ins_p.V265fs|POTEE_uc010fmy.1_Frame_Shift_Ins_p.V147fs	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	683							ATP binding										TTGAAAGTGTGAAAAAAAAGAA	0.416													14	24	---	---	---	---						A	132021078	-	A	132021077	7	5	241	1	0	1	1	0	0	0	0	0	12264	1277	45	0	2107	0	POTEE	2	132021077	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	1148271	132021077	111178296	98	10074											
R3HDM1	23518	broad.mit.edu	37	chr2	136481617	136481617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccaagatccggtggctcCgggacccccagtcccaacca	8	4	11	18	3	0	1	0	0	0	1	3	2	3	2	7	3	1	1	7	3	2	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:136481617C>T	uc002tuo.3	+	25	3425	c.3055C>T	c.(3055-3057)Cgg>Tgg	p.R1019W	R3HDM1_uc010fni.3_Missense_Mutation_p.R1018W|R3HDM1_uc002tup.3_Missense_Mutation_p.R964W|R3HDM1_uc010zbh.2_Missense_Mutation_p.R767W	NM_015361	NP_056176	Q15032	R3HD1_HUMAN	Homo sapiens R3H domain containing 1 (R3HDM1), mRNA.	1019							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CCGGTGGCTCCGGGACCCCCA	0.542													93	80					0	0	1	0	0	T	136481617	C	T	136481617	3	4	241	1	0	0	0	0	1	0	0	0	12887	643	23	2	3149	2	R3HDM1	2	136481617	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4460540	136481617	106717756	99	10075											
LRP1B	53353	broad.mit.edu	37	chr2	141816539	141816539	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatatcagtcccattaaatcGgtttatccttacgatattgt	12	16	5	8	2	1	0	1	0	0	0	4	1	3	0	2	1	1	1	2	1	7	7			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:141816539G>A	uc002tvj.1	-	8	2293	c.1321C>T	c.(1321-1323)Cga>Tga	p.R441*	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	441					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R441Q(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATTAAATCGGTTTATCCTT	0.328										TSP Lung(27;0.18)			7	89					0	0	1	0	0	A	141816539	G	A	141816539	4	1	241	1	0	0	0	0	0	1	0	0	8955	1124	39	2	12810	2	LRP1B	2	141816539	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	5334922	141816539	101382834	100	10076											
LRP2	4036	broad.mit.edu	37	chr2	170022532	170022532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgattgttgtcacaccGgaaacggtttggtgaattac	10	11	12	8	3	1	1	1	1	0	0	1	3	1	2	1	3	3	3	1	3	3	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:170022532G>A	uc002ues.3	-	61	11881	c.11668C>T	c.(11668-11670)Cgg>Tgg	p.R3890W		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3890	LDL-receptor class A 35.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity	p.R3890L(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTGTCACACCGGAAACGGTTT	0.388													88	104					0	0	1	0	0	A	170022532	G	A	170022532	3	1	241	1	0	0	0	0	1	0	0	0	8956	1115	39	2	2371	2	LRP2	2	170022532	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	28205993	170022532	73176841	101	10077											
LRP2	4036	broad.mit.edu	37	chr2	170060607	170060607	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctgggagagcaaatttgtGgtcattgcaatctgacctga	10	11	13	7	0	2	3	1	2	1	1	2	4	2	3	1	3	2	3	1	3	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:170060607G>A	uc002ues.3	-	41	8103	c.7890C>T	c.(7888-7890)acC>acT	p.T2630T		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2630					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GCAAATTTGTGGTCATTGCAA	0.448													69	294					0	0	1	0	0	A	170060607	G	A	170060607	2	1	241	1	0	0	0	0	0	0	0	1	8956	1335	47	3		3	LRP2	2	170060607	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	38075	170060607	73138766	102	10078											
C2orf77	129881	broad.mit.edu	37	chr2	170502600	170502603	+	Frame_Shift_Del	DEL	TTCT	TTCT	-																															tctctggcatagtcctgaaaTtctttctccttttcagccac																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:170502600_170502603delTTCT	uc002ufe.2	-	8	1501_1504	c.1407_1410delAGAA	c.(1405-1410)aaagaafs	p.K469fs		NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN	Homo sapiens chromosome 2 open reading frame 77 (C2orf77), mRNA.	469										endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|urinary_tract(2)	23						AGTCCTGAAATTCTTTCTCCTTTT	0.373													38	352	---	---	---	---						-	170502603	TTCT	-	170502600	7	5	241	1	0	1	0	1	0	0	0	0	2194	1490	52	0	252	0	C2orf77	2	170502600	Frame_Shift_Del	DEL	TTCT	TCGA-HT-8564-01A-11D-2395-08	441993	170502600	72696773	103	10079											
TTN	7273	broad.mit.edu	37	chr2	179412628	179412628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttactttgggggcaggaCgaccactgattggtacgtca	9	11	13	8	2	1	1	1	1	0	0	1	3	1	2	1	4	2	3	1	4	2	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:179412628C>T	uc021vsy.1	-	287	86246	c.86021G>A	c.(86020-86022)cGt>cAt	p.R28674H	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R22369H|TTN_uc021vta.1_Missense_Mutation_p.R22302H|TTN_uc021vtb.1_Missense_Mutation_p.R22177H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29601	Fibronectin type-III 108.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGGGCAGGACGACCACTGAT	0.448													26	47					0	0	1	0	0	T	179412628	C	T	179412628	3	4	241	1	0	0	0	0	1	0	0	0	16732	536	19	1	14350	1	TTN	2	179412628	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	8910028	179412628	63786745	104	10080											
TTN	7273	broad.mit.edu	37	chr2	179430304	179430304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcattataagccttgacaCggaactgatattcttgtcca	11	14	6	10	1	2	2	1	2	2	0	4	3	3	3	2	1	2	0	2	1	4	6			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:179430304C>T	uc021vsy.1	-	274	73076	c.72851G>A	c.(72850-72852)cGt>cAt	p.R24284H	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R17979H|TTN_uc021vta.1_Missense_Mutation_p.R17912H|TTN_uc021vtb.1_Missense_Mutation_p.R17787H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25211	Fibronectin type-III 76.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCCTTGACACGGAACTGATA	0.418													74	193					0	0	1	0	0	T	179430304	C	T	179430304	3	4	241	1	0	0	0	0	1	0	0	0	16732	536	19	1	27572	1	TTN	2	179430304	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	17676	179430304	63769069	105	10081											
TTN	7273	broad.mit.edu	37	chr2	179598102	179598102	+	Frame_Shift_Del	DEL	T	T	-																															tttttaaaacttattcggtaTtttttactggcgaccaaggg																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:179598102delT	uc021vsy.1	-	50	12411	c.12186delA	c.(12184-12186)aaafs	p.K4062fs	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Frame_Shift_Del_p.K723fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4989							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTATTCGGTATTTTTTACTGG	0.468													86	109	---	---	---	---						-	179598102	T	-	179598102	7	5	241	1	0	1	0	1	0	0	0	0	16732	1490	52	0	88847	0	TTN	2	179598102	Frame_Shift_Del	DEL	T	TCGA-HT-8564-01A-11D-2395-08	167798	179598102	63601271	106	10082											
HECW2	57520	broad.mit.edu	37	chr2	197183524	197183524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtgcacacggattcctgcGacccttcggcagggccactg	7	7	12	15	3	0	0	0	0	0	0	2	2	1	1	3	3	2	2	3	3	0	2	rs139251909		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:197183524G>A	uc002utm.1	-	8	2273	c.2090C>T	c.(2089-2091)tCg>tTg	p.S697L	HECW2_uc002utl.1_Missense_Mutation_p.S341L	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	697					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGATTCCTGCGACCCTTCGGC	0.612													6	110					0	0	1	0	0	A	197183524	G	A	197183524	3	1	241	1	0	0	0	0	1	0	0	0	7043	1059	37	2	2712	2	HECW2	2	197183524	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	17585422	197183524	46015849	107	10083											
BZW1	9689	broad.mit.edu	37	chr2	201683504	201683504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttatatgtcaaggaggagatGaaaaaaaacaacatcccaga	20	7	8	6	0	1	3	1	1	0	2	2	5	2	4	1	2	2	0	1	2	8	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:201683504G>A	uc010zhg.2	+	8	1017	c.942G>A	c.(940-942)atG>atA	p.M314I	BZW1_uc002uwc.3_Missense_Mutation_p.M282I|BZW1_uc021vus.1_Missense_Mutation_p.M286I	NM_001207068	NP_001193997	Q7L1Q6	BZW1_HUMAN	Homo sapiens basic leucine zipper and W2 domains 1 (BZW1), transcript variant 2, mRNA.	282	W2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						AGGAGGAGATGAAAAAAAACA	0.373													19	33					0	0	1	0	0	A	201683504	G	A	201683504	3	1	241	1	0	0	0	0	1	0	0	0	1578	1290	45	3	876	3	BZW1	2	201683504	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4499980	201683504	41515869	108	10084											
CD28	940	broad.mit.edu	37	chr2	204599561	204599561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actacatgaacatgactcccCgccgccccgggcccacccgc	8	4	8	21	4	0	2	0	2	0	0	1	2	1	2	7	1	2	0	7	1	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:204599561C>T	uc002vah.4	+	3	811	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	CD28_uc010zio.2_Missense_Mutation_p.R100C|CD28_uc010ftx.3_Missense_Mutation_p.R78C|CD28_uc002vaj.4_Non-coding_Transcript	NM_006139	NP_006130	P10747	CD28_HUMAN	Homo sapiens CD28 molecule (CD28), transcript variant 1, mRNA.	197					T cell costimulation|cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	SH3/SH2 adaptor activity|coreceptor activity|protease binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						CATGACTCCCCGCCGCCCCGG	0.597													83	173					0	0	1	0	0	T	204599561	C	T	204599561	3	4	241	1	0	0	0	0	1	0	0	0	2993	652	23	2	603	2	CD28	2	204599561	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2916057	204599561	38599812	109	10085											
ABCA12	26154	broad.mit.edu	37	chr2	215809802	215809802	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagaggtgccgtttcgacttCggatccatgccagagctcgg	7	9	13	12	4	0	2	0	0	0	2	4	4	1	3	3	3	3	2	3	3	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:215809802C>T	uc002vew.3	-	48	7486	c.7266G>A	c.(7264-7266)ccG>ccA	p.P2422P	ABCA12_uc002vev.3_Silent_p.P2104P|ABCA12_uc010zjn.2_Silent_p.P1349P	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	2422	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.P2422P(2)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTTTCGACTTCGGATCCATGC	0.363													26	29					0	0	1	0	0	T	215809802	C	T	215809802	2	4	241	1	0	0	0	0	0	0	0	1	30	871	31	2		2	ABCA12	2	215809802	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	11210241	215809802	27389571	110	10086											
ATIC	471	broad.mit.edu	37	chr2	216209588	216209588	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgtgctacgccaagaaCgggcaggtaagtgggctgtt	8	10	15	8	2	1	1	0	0	1	1	1	1	1	1	1	3	3	5	1	3	4	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:216209588C>T	uc002vex.4	+	12	1501	c.1314C>T	c.(1312-1314)aaC>aaT	p.N438N	ATIC_uc010zjo.2_Silent_p.N379N|ATIC_uc002vey.4_Silent_p.N437N	NM_004044	NP_004035	P31939	PUR9_HUMAN	Homo sapiens 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase (ATIC), mRNA.	438					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	ACGCCAAGAACGGGCAGGTAA	0.488			T	ALK	ALCL								28	61					0	0	1	0	0	T	216209588	C	T	216209588	2	4	241	1	0	0	0	0	0	0	0	1	1105	535	19	1		1	ATIC	2	216209588	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	399786	216209588	26989785	111	10087											
SPEG	10290	broad.mit.edu	37	chr2	220334066	220334066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggttccacaatggccaccGcatccagagcagcgacgacc	10	5	10	16	3	0	1	0	0	0	1	2	3	2	1	5	2	2	3	5	2	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:220334066G>A	uc010fwg.3	+	12	3680	c.3680G>A	c.(3679-3681)cGc>cAc	p.R1227H		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1227	Ig-like 6.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AATGGCCACCGCATCCAGAGC	0.642													36	37					0	0	1	0	0	A	220334066	G	A	220334066	3	1	241	1	0	0	0	0	1	0	0	0	15035	1087	38	1	3742	1	SPEG	2	220334066	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4124478	220334066	22865307	112	10088											
CCL20	6364	broad.mit.edu	37	chr2	228678691	228678691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctactccacctctgcGgcgaatcagaaggtaagtgt	9	10	11	11	2	2	1	1	0	1	1	3	2	3	1	2	2	4	3	2	2	4	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:228678691G>A	uc002vpl.2	+	0	134	c.64G>A	c.(64-66)Ggc>Agc	p.G22S	CCL20_uc002vpm.2_Missense_Mutation_p.G22S	NM_004591	NP_004582	P78556	CCL20_HUMAN	Homo sapiens chemokine (C-C motif) ligand 20 (CCL20), transcript variant 1, mRNA.	22					cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity			cervix(1)|lung(2)	3		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CCACCTCTGCGGCGAATCAGA	0.473													24	258					0	0	1	0	0	A	228678691	G	A	228678691	3	1	241	1	0	0	0	0	1	0	0	0	2892	1116	39	2	66	2	CCL20	2	228678691	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	8344625	228678691	14520682	113	10089											
HTR2B	3357	broad.mit.edu	37	chr2	231973400	231973401	+	Frame_Shift_Del	DEL	TT	TT	-																															ttccatgtttcttgaaaaacTtagagttctctgccattgga																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:231973400_231973401delTT	uc002vro.3	-	3	1781_1782	c.1276_1277delAA	c.(1276-1278)aagfs	p.K426fs	PSMD1_uc002vrn.2_Intron|PSMD1_uc002vrm.2_Intron|PSMD1_uc010fxu.2_Intron|HTR2B_uc010fxv.3_Frame_Shift_Del_p.K359fs	NM_000867	NP_000858	P41595	5HT2B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2B (HTR2B), mRNA.	426					ERK1 and ERK2 cascade|G-protein coupled receptor internalization|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cGMP biosynthetic process|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|embryonic morphogenesis|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	G-protein alpha-subunit binding|Ras GTPase activator activity|calcium channel activity|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	CTTGAAAAACTTAGAGTTCTCT	0.426													34	69	---	---	---	---						-	231973401	TT	-	231973400	7	5	241	1	0	1	0	1	0	0	0	0	7442	1609	56	0	172	0	HTR2B	2	231973400	Frame_Shift_Del	DEL	TT	TCGA-HT-8564-01A-11D-2395-08	3294709	231973400	11225973	114	10090											
DIS3L2	129563	broad.mit.edu	37	chr2	233128091	233128091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggccgtcttgaatctccacGgaattgccaagcagttacgc	10	9	10	12	3	2	1	0	1	2	0	3	2	2	2	3	2	3	2	3	2	4	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:233128091G>A	uc010fxz.3	+	12	1876	c.1600G>A	c.(1600-1602)Gga>Aga	p.G534R	DIS3L2_uc002vsm.4_Non-coding_Transcript|DIS3L2_uc002vso.3_Non-coding_Transcript	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like 2 (DIS3L2), mRNA.	534							RNA binding|exonuclease activity|ribonuclease activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GAATCTCCACGGAATTGCCAA	0.522													17	121					0	0	1	0	0	A	233128091	G	A	233128091	3	1	241	1	0	0	0	0	1	0	0	0	4537	1117	39	2	1646	2	DIS3L2	2	233128091	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1154691	233128091	10071282	115	10091											
CHRNG	1146	broad.mit.edu	37	chr2	233405401	233405401	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaccatggtgtggcggccGgatatcgtgctggagaacaa	9	8	14	10	3	0	1	0	0	0	1	2	3	1	2	3	5	2	1	3	5	3	1	rs149931943		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:233405401G>A	uc002vsx.1	+	3	351	c.330G>A	c.(328-330)ccG>ccA	p.P110P	CHRNG_uc010fyd.3_Silent_p.P110P|CHRNG_uc010fye.1_Silent_p.P110P	NM_005199	NP_005190	P07510	ACHG_HUMAN	Homo sapiens cholinergic receptor, nicotinic, gamma (CHRNG), mRNA.	110					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		TGTGGCGGCCGGATATCGTGC	0.642													21	13					0	0	1	0	0	A	233405401	G	A	233405401	2	1	241	1	0	0	0	0	0	0	0	1	3396	1103	39	2		2	CHRNG	2	233405401	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	277310	233405401	9793972	116	10092											
DGKD	8527	broad.mit.edu	37	chr2	234371341	234371341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaataacttcagagctctgcGcagtgagacggagctgctgc	10	8	13	10	2	2	2	1	1	1	2	2	5	2	3	0	1	6	4	0	1	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:234371341G>A	uc002vui.1	+	25	3158	c.3146G>A	c.(3145-3147)cGc>cAc	p.R1049H	DGKD_uc002vuj.1_Missense_Mutation_p.R1005H|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	1049					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AGAGCTCTGCGCAGTGAGACG	0.597													38	249					0	0	1	0	0	A	234371341	G	A	234371341	3	1	241	1	0	0	0	0	1	0	0	0	4467	1087	38	1	3272	1	DGKD	2	234371341	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	965940	234371341	8828032	117	10093											
UGT1A1	54658	broad.mit.edu	37	chr2	234526381	234526381	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagggtggaccagccccAttcccctatgtgtttctctg	6	11	10	14	0	1	0	0	0	1	0	3	1	2	1	5	2	1	2	5	2	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:234526381A>G	uc002vup.3	+	0	91	c.28A>G	c.(28-30)Att>Gtt	p.I10V	UGT1A1_uc010zmv.1_Missense_Mutation_p.I10V	NM_019076	NP_061949	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A8 (UGT1A8), mRNA.	0					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GACCAGCCCCATTCCCCTATG	0.572													57	64					0	0	1	0	0	G	234526381	A	G	234526381	3	3	241	1	0	0	0	0	1	0	0	0	16941	217	8	3		3	UGT1A1	2	234526381	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	155040	234526381	8672992	118	10094											
DNAJB3	414061	broad.mit.edu	37	chr2	234652392	234652392	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atatcgcgtttcttggcgtcCgacaacacctcgtaggcctc	7	11	9	14	5	1	0	0	0	1	0	5	1	2	0	3	2	1	2	3	2	3	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:234652392C>T	uc002vuz.3	-	0	270	c.171G>A	c.(169-171)tcG>tcA	p.S57S	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc002vuw.3_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron	NM_001001394	NP_001001394	Q8WWF6	DNJB3_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 3 (DNAJB3), mRNA.	57	J.				protein folding		heat shock protein binding|unfolded protein binding										TCTTGGCGTCCGACAACACCT	0.627													43	348					0	0	1	0	0	T	234652392	C	T	234652392	2	4	241	1	0	0	0	0	0	0	0	1	4621	639	23	2		2	DNAJB3	2	234652392	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	126011	234652392	8546981	119	10095											
HDAC4	9759	broad.mit.edu	37	chr2	239975226	239975226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtctcggcttcttcgttctCgcaagtctgagcctcgatca	5	13	9	14	5	5	1	1	1	4	0	9	2	5	1	1	1	1	3	1	1	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:239975226C>T	uc002vyk.4	-	25	3937	c.3145G>A	c.(3145-3147)Gag>Aag	p.E1049K	HDAC4_uc010fyy.3_Missense_Mutation_p.E1006K	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	1049	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TCTTCGTTCTCGCAAGTCTGA	0.662													53	63					0	0	1	0	0	T	239975226	C	T	239975226	3	4	241	1	0	0	0	0	1	0	0	0	7009	893	31	2	117	2	HDAC4	2	239975226	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5322834	239975226	3224147	120	10096											
ANKMY1	51281	broad.mit.edu	37	chr2	241468876	241468876	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccacgtcctggctgccatcGgggtaggtctcgacacctgg	5	8	13	15	3	1	0	0	0	1	0	4	1	2	0	4	5	1	2	4	5	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:241468876G>A	uc010fzd.1	-	4	656	c.531C>T	c.(529-531)ccC>ccT	p.P177P	ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vyz.1_Silent_p.P88P|ANKMY1_uc002vza.1_Intron|ANKMY1_uc002vzd.1_Intron|ANKMY1_uc010fze.2_Intron|ANKMY1_uc002vze.3_Intron	NM_016552	NP_057636	Q9P2S6	ANKY1_HUMAN	Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA.	88							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GGCTGCCATCGGGGTAGGTCT	0.602													27	50					0	0	1	0	0	A	241468876	G	A	241468876	2	1	241	1	0	0	0	0	0	0	0	1	634	1103	39	2		2	ANKMY1	2	241468876	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1493650	241468876	1730497	121	10097											
GPR35	2859	broad.mit.edu	37	chr2	241570136	241570136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctggagacgatccgtcGcgccctgtacataaccagca	9	7	9	16	4	0	1	0	0	0	1	3	3	2	1	5	1	3	2	5	1	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:241570136G>A	uc010fzi.2	+	5	1732	c.860G>A	c.(859-861)cGc>cAc	p.R287H	GPR35_uc010fzh.2_Missense_Mutation_p.R287H|GPR35_uc021vze.1_Missense_Mutation_p.R256H|GPR35_uc002vzs.2_Missense_Mutation_p.R256H	NM_001195381	NP_001182310	Q9HC97	GPR35_HUMAN	Homo sapiens G protein-coupled receptor 35 (GPR35), transcript variant 2, mRNA.	256						integral to plasma membrane	G-protein coupled receptor activity	p.A286A(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		ACGATCCGTCGCGCCCTGTAC	0.622													124	145					0	0	1	0	0	A	241570136	G	A	241570136	3	1	241	1	0	0	0	0	1	0	0	0	6690	1087	38	1	769	1	GPR35	2	241570136	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	101260	241570136	1629237	122	10098											
KIF1A	547	broad.mit.edu	37	chr2	241680733	241680733	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgaagtagaccagcaggtcGtacttgcagtggcagggtcc	9	8	14	10	2	0	1	0	0	0	1	3	2	1	1	2	3	3	5	2	3	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:241680733G>A	uc010fzk.3	-	34	3949	c.3702C>T	c.(3700-3702)taC>taT	p.Y1234Y	KIF1A_uc002vzy.3_Silent_p.Y1133Y|KIF1A_uc002vzz.2_Silent_p.Y1234Y	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	1133					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCAGCAGGTCGTACTTGCAGT	0.662													11	14					0	0	1	0	0	A	241680733	G	A	241680733	2	1	241	1	0	0	0	0	0	0	0	1	8283	1140	40	1		1	KIF1A	2	241680733	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	110597	241680733	1518640	123	10099											
ANO7	50636	broad.mit.edu	37	chr2	242148714	242148714	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacaggccggccggctgttCgaccacggcggcaccgtgtt	5	6	14	16	6	0	0	0	0	0	0	1	1	0	0	5	5	0	4	5	5	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:242148714C>T	uc002wax.2	+	11	1357	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	418						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GCCGGCTGTTCGACCACGGCG	0.647													4	12					0	0	1	0	0	T	242148714	C	T	242148714	2	4	241	1	0	0	0	0	0	0	0	1	702	883	31	2		2	ANO7	2	242148714	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	467981	242148714	1050659	124	10100											
STK25	10494	broad.mit.edu	37	chr2	242437037	242437037	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccccatcctcacctctccGaagacgggccggaccagcgt	8	5	10	18	4	2	1	1	0	1	1	4	3	3	2	7	2	2	0	7	2	1	0	rs67879108		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:242437037G>A	uc002wbm.3	-	8	1369	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	STK25_uc002wbl.3_3'UTR|STK25_uc002wbn.3_Silent_p.F366F|STK25_uc002wbo.3_Silent_p.F289F|STK25_uc010zos.2_Silent_p.F272F|STK25_uc010zot.2_Silent_p.F292F|STK25_uc002wbp.3_Silent_p.F366F|STK25_uc010fzo.3_Silent_p.F289F|STK25_uc010zou.2_Silent_p.F272F|STK25_uc010zov.2_Silent_p.F272F	NM_006374	NP_006365	O00506	STK25_HUMAN	Homo sapiens serine/threonine kinase 25 (STK25), mRNA.	366					response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		TCACCTCTCCGAAGACGGGCC	0.657													101	103					0	0	1	0	0	A	242437037	G	A	242437037	2	1	241	1	0	0	0	0	0	0	0	1	15293	1049	37	2		2	STK25	2	242437037	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	288323	242437037	762336	125	10101											
NR2C2	7182	broad.mit.edu	37	chr3	15065637	15065637	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagacaaacaggtcttctTgatccagggatgcttgtgaa	13	11	10	7	0	2	3	0	2	2	1	3	4	3	4	1	2	2	1	1	2	4	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:15065637T>A	uc003bzj.4	+	6	937	c.720T>A	c.(718-720)ctT>ctA	p.L240L	NR2C2_uc003bzi.3_Silent_p.L259L	NM_003298	NP_003289	P49116	NR2C2_HUMAN	Homo sapiens nuclear receptor subfamily 2, group C, member 2 (NR2C2), mRNA.	240					cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CAGGTCTTCTTGATCCAGGGA	0.438													31	91					0	0	1	0	0	A	15065637	T	A	15065637	2	1	241	1	0	0	0	0	0	0	0	1	10623	1799	63	5		5	NR2C2	3	15065637	Silent	SNP	T	TCGA-HT-8564-01A-11D-2395-08		15065637	182956793	126	10102											
DCLK3	85443	broad.mit.edu	37	chr3	36779958	36779958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccttgcatcctgcaacttCgctgcagctcttgggggtct	4	13	11	13	1	2	0	0	0	2	0	4	0	3	0	2	2	6	5	2	2	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:36779958C>T	uc003cgi.2	-	1	684	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	65						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CCTGCAACTTCGCTGCAGCTC	0.612													180	45					0	0	1	0	0	T	36779958	C	T	36779958	3	4	241	1	0	0	0	0	1	0	0	0	4293	893	31	2	1769	2	DCLK3	3	36779958	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	21714321	36779958	161242472	127	10103											
MLH1	4292	broad.mit.edu	37	chr3	37038172	37038172	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggcctgaagttgattcAgatccaagacaatggcaccg	12	7	13	9	1	1	4	1	2	0	2	2	5	2	5	3	3	0	2	3	3	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:37038172A>C	uc003cgl.3	+	1	377	c.179A>C	c.(178-180)cAg>cCg	p.Q60P	MLH1_uc011aye.2_5'UTR|MLH1_uc011ayb.2_Intron|MLH1_uc010hge.3_Missense_Mutation_p.Q60P|MLH1_uc011ayc.2_5'UTR|MLH1_uc011ayd.2_5'UTR|MLH1_uc003cgo.3_5'UTR|MLH1_uc003cgn.4_5'UTR	NM_000249	NP_001161091	P40692	MLH1_HUMAN	Homo sapiens mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) (MLH1), transcript variant 1, mRNA.	60					mismatch repair|somatic hypermutation of immunoglobulin genes	MutLalpha complex|MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						AAGTTGATTCAGATCCAAGAC	0.413		1	"D, Mis, N, F, S"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				51	11					0	0	1	0	0	C	37038172	A	C	37038172	3	2	241	1	0	0	0	0	1	0	0	0	9617	188	7	5	185	5	MLH1	3	37038172	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	258214	37038172	160984258	128	10104											
PRSS50	29122	broad.mit.edu	37	chr3	46759103	46759103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagtggacagcgcccccGgggcttcccctgcgccccag	5	4	13	19	3	0	0	0	0	0	0	1	1	1	1	6	3	3	2	6	3	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:46759103G>A	uc003cqe.1	-	1	613	c.131C>T	c.(130-132)cCg>cTg	p.P44L	PRSS50_uc021wxe.1_Missense_Mutation_p.P44L|PRSS50_uc003cqf.2_Intron	NM_013270	NP_037402	Q9UI38	TSP50_HUMAN	Homo sapiens protease, serine, 50 (PRSS50), mRNA.	44					proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	p.P44L(2)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CAGCGCCCCCGGGGCTTCCCC	0.706													36	13					0	0	1	0	0	A	46759103	G	A	46759103	3	1	241	1	0	0	0	0	1	0	0	0	12631	1116	39	2	1046	2	PRSS50	3	46759103	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	9720931	46759103	151263327	129	10105											
FBXW12	285231	broad.mit.edu	37	chr3	48422276	48422276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacataaattatgtgccagcGcctgctggaccccaaaggtg	11	8	10	12	1	0	0	0	0	0	0	0	1	0	1	4	2	3	1	4	2	4	2	rs144607752	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:48422276G>A	uc003csr.3	+	7	1045	c.859G>A	c.(859-861)Gcc>Acc	p.A287T	FBXW12_uc010hjv.3_Missense_Mutation_p.A268T|FBXW12_uc003css.3_Missense_Mutation_p.A217T|FBXW12_uc010hjw.3_Missense_Mutation_p.A186T	NM_207102	NP_996985	Q6X9E4	FBW12_HUMAN	Homo sapiens F-box and WD repeat domain containing 12 (FBXW12), transcript variant 1, mRNA.	287								p.S286S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATGTGCCAGCGCCTGCTGGAC	0.443													116	35					0	0	1	0	0	A	48422276	G	A	48422276	3	1	241	1	0	0	0	0	1	0	0	0	5765	1087	38	1	922	1	FBXW12	3	48422276	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1663173	48422276	149600154	130	10106											
BSN	8927	broad.mit.edu	37	chr3	49699985	49699985	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcccattgcgtggtttcCgacagcgaaggtaatggcag	9	10	13	9	3	0	0	0	0	0	0	2	3	2	0	2	3	2	3	2	3	2	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:49699985C>T	uc003cxe.4	+	5	10821	c.10707C>T	c.(10705-10707)tcC>tcT	p.S3569S		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3569					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCGTGGTTTCCGACAGCGAAG	0.597													71	25					0	0	1	0	0	T	49699985	C	T	49699985	2	4	241	1	0	0	0	0	0	0	0	1	1530	639	23	2		2	BSN	3	49699985	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1277709	49699985	148322445	131	10107											
SEMA3F	6405	broad.mit.edu	37	chr3	50224060	50224060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaagccaacaagaatgccGtggagtctgtgcagtatggc	12	8	12	9	1	1	1	0	0	1	1	1	2	1	2	2	2	4	2	2	2	6	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:50224060G>A	uc003cyj.3	+	17	2026	c.1828G>A	c.(1828-1830)Gtg>Atg	p.V610M	SEMA3F_uc003cyk.3_Missense_Mutation_p.V579M	NM_004186	NP_004177	Q13275	SEM3F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA.	610	Ig-like C2-type.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CAAGAATGCCGTGGAGTCTGT	0.627													22	68					0	0	1	0	0	A	50224060	G	A	50224060	3	1	241	1	0	0	0	0	1	0	0	0	14029	1145	40	1	1894	1	SEMA3F	3	50224060	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	524075	50224060	147798370	132	10108											
IFRD2	7866	broad.mit.edu	37	chr3	50326252	50326252	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacggagtgcagcacggcGcggaaagtagagcgctggcg	9	4	17	11	6	0	1	0	0	0	1	1	3	1	3	1	4	3	4	1	4	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:50326252G>A	uc003czb.3	-	11	1500	c.1500C>T	c.(1498-1500)cgC>cgT	p.R500R	IFRD2_uc011bdp.2_Silent_p.R398R	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	Homo sapiens interferon-related developmental regulator 2 (IFRD2), mRNA.	398							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCAGCACGGCGCGGAAAGTAG	0.602													26	9					0	0	1	0	0	A	50326252	G	A	50326252	2	1	241	1	0	0	0	0	0	0	0	1	7554	1074	38	1		1	IFRD2	3	50326252	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	102192	50326252	147696178	133	10109											
DNAH1	25981	broad.mit.edu	37	chr3	52380763	52380763	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgacatggtctggggtgaCgacttaattaacagccccta	11	10	11	9	1	1	2	0	2	1	0	1	4	1	2	2	3	2	0	2	3	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:52380763C>T	uc011bef.2	+	10	2193	c.1932C>T	c.(1930-1932)gaC>gaT	p.D644D	DNAH1_uc003ddt.1_Silent_p.D644D	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	644	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCTGGGGTGACGACTTAATTA	0.602													25	7					0	0	1	0	0	T	52380763	C	T	52380763	2	4	241	1	0	0	0	0	0	0	0	1	4597	535	19	1		1	DNAH1	3	52380763	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2054511	52380763	145641667	134	10110											
DNAH1	25981	broad.mit.edu	37	chr3	52407044	52407044	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccagtggatggaccacggCggctggtacgaccgcaagat	9	5	15	12	5	0	1	0	0	0	1	0	4	0	3	3	5	1	3	3	5	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:52407044C>T	uc011bef.2	+	43	7221	c.6960C>T	c.(6958-6960)ggC>ggT	p.G2320G		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2320	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGGACCACGGCGGCTGGTACG	0.612													10	44					0	0	1	0	0	T	52407044	C	T	52407044	2	4	241	1	0	0	0	0	0	0	0	1	4597	755	27	1		1	DNAH1	3	52407044	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	26281	52407044	145615386	135	10111											
FLNB	2317	broad.mit.edu	37	chr3	58108831	58108831	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaataggtgaaggcccaCggtcccggcctcgaaggtgg	9	6	14	12	3	1	1	1	1	0	0	3	2	2	1	3	6	0	0	3	6	4	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:58108831C>T	uc003djj.2	+	20	3303	c.3138C>T	c.(3136-3138)caC>caT	p.H1046H	FLNB_uc010hne.2_Silent_p.H1046H|FLNB_uc003djk.2_Silent_p.H1046H|FLNB_uc010hnf.2_Silent_p.H1046H|FLNB_uc003djl.2_Silent_p.H877H|FLNB_uc003djm.2_Silent_p.H877H	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1046					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGAAGGCCCACGGTCCCGGCC	0.542													35	157					0	0	1	0	0	T	58108831	C	T	58108831	2	4	241	1	0	0	0	0	0	0	0	1	5934	535	19	1		1	FLNB	3	58108831	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5701787	58108831	139913599	136	10112											
ADAMTS9	56999	broad.mit.edu	37	chr3	64536656	64536656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgcttgctcacgtcacagCgtgccccatgcacctcgttt	5	10	9	17	4	2	0	2	0	0	0	3	0	2	0	4	0	4	4	4	0	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:64536656C>T	uc003dmg.3	-	30	4813	c.4781G>A	c.(4780-4782)cGc>cAc	p.R1594H	ADAMTS9_uc011bfo.2_Missense_Mutation_p.R1566H|ADAMTS9_uc003dmh.1_Missense_Mutation_p.R1423H|ADAMTS9_uc011bfp.1_Missense_Mutation_p.R505H	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1594	TSP type-1 13.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CACGTCACAGCGTGCCCCATG	0.552													156	64					0	0	1	0	0	T	64536656	C	T	64536656	3	4	241	1	0	0	0	0	1	0	0	0	273	768	27	1	1062	1	ADAMTS9	3	64536656	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	6427825	64536656	133485774	137	10113											
ZBTB20	26137	broad.mit.edu	37	chr3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-																															cacctgggggtgtgcctgcaGggggggtcccattgctggca																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:114058003delG	uc003ebi.3	-	4	2255	c.2075delC	c.(2074-2076)cctfs	p.P692fs	ZBTB20_uc003ebj.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc010hqp.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebk.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebl.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebm.3_Frame_Shift_Del_p.P619fs|ZBTB20_uc003ebn.3_Frame_Shift_Del_p.P619fs	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P619fs*43(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGCCTGCAGGGGGGGTCCC	0.632													88	28	---	---	---	---						-	114058003	G	-	114058003	7	5	241	1	0	1	0	1	0	0	0	0	17526	1000	35	0	154	0	ZBTB20	3	114058003	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	49521347	114058003	83964427	138	10114											
ADCY5	111	broad.mit.edu	37	chr3	123036943	123036943	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccacataggcaccaaatcGgtcgtctacctgcttggagt	9	9	10	13	3	1	0	0	0	1	0	3	1	1	1	3	3	2	2	3	3	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:123036943G>A	uc003egh.2	-	10	2278	c.2278C>T	c.(2278-2280)Cga>Tga	p.R760*	ADCY5_uc021xdd.1_Nonsense_Mutation_p.R410*|ADCY5_uc003egg.2_Nonsense_Mutation_p.R393*|ADCY5_uc003egi.1_Nonsense_Mutation_p.R319*	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	760					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GCACCAAATCGGTCGTCTACC	0.602													40	11					0	0	1	0	0	A	123036943	G	A	123036943	4	1	241	1	0	0	0	0	0	1	0	0	297	1124	39	2	1551	2	ADCY5	3	123036943	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	8978940	123036943	74985487	139	10115											
NPHP3	27031	broad.mit.edu	37	chr3	132361582	132361582	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtatcactgcagtacagtAtaggcttgggaacggggaat	13	9	13	6	1	1	0	1	0	0	0	1	2	1	2	0	4	3	5	0	4	7	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:132361582A>G	uc003eov.4	-	2	694	c.314T>C	c.(313-315)aTa>aCa	p.I105T		NM_032169	NP_115545	Q7Z494	NPHP3_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 11 (ACAD11), mRNA.	525					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCAGTACAGTATAGGCTTGGG	0.328													107	31					0	0	1	0	0	G	132361582	A	G	132361582	3	3	241	1	0	0	0	0	1	0	0	0	10580	449	16	3		3	NPHP3	3	132361582	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	9324639	132361582	65660848	140	10116											
NPHP3	27031	broad.mit.edu	37	chr3	132403500	132403502	+	In_Frame_Del	DEL	TTC	TTC	-																															tctaaagctctttcataaagTtcttctgctttatcatactg																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:132403500_132403502delTTC	uc003epe.2	-	23	3570_3572	c.3466_3468delGAA	c.(3466-3468)gaadel	p.E1156del	NPHP3_uc003eoz.1_In_Frame_Del_p.E35del|NPHP3_uc003epd.2_In_Frame_Del_p.E398del	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA.	1156					Wnt receptor signaling pathway|maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTTCATAAAGTTCTTCTGCTTTA	0.419													40	20	---	---	---	---						-	132403502	TTC	-	132403500	7	5	241	1	0	1	0	1	0	0	0	0	10580	1722	60	0	540	0	NPHP3	3	132403500	In_Frame_Del	DEL	TTC	TCGA-HT-8564-01A-11D-2395-08	41918	132403500	65618930	141	10117											
ZBTB38	253461	broad.mit.edu	37	chr3	141163946	141163946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagtgaagtgttcgatgacGcaagtgaccaggattccact	11	10	12	8	2	0	4	0	4	0	0	2	6	1	5	2	1	0	2	2	1	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:141163946G>A	uc010hup.3	+	1	2766	c.2719G>A	c.(2719-2721)Gca>Aca	p.A907T	ZBTB38_uc003etw.3_Missense_Mutation_p.A906T|ZBTB38_uc010hun.3_Missense_Mutation_p.A903T|ZBTB38_uc010huo.3_Missense_Mutation_p.A906T|ZBTB38_uc003ety.3_Missense_Mutation_p.A906T|ZBTB38_uc021xes.1_Missense_Mutation_p.A906T	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.	906					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GTTCGATGACGCAAGTGACCA	0.502													44	17					0	0	1	0	0	A	141163946	G	A	141163946	3	1	241	1	0	0	0	0	1	0	0	0	17536	1087	38	1	2718	1	ZBTB38	3	141163946	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	8760446	141163946	56858484	142	10118											
ZBTB38	253461	broad.mit.edu	37	chr3	141164403	141164403	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaacttacagaaacatgaacGcatccacctgggcttgaagg	15	7	9	10	1	0	3	0	2	0	1	1	3	1	3	2	2	4	2	2	2	5	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:141164403G>A	uc010hup.3	+	1	3223	c.3176G>A	c.(3175-3177)cGc>cAc	p.R1059H	ZBTB38_uc003etw.3_Missense_Mutation_p.R1058H|ZBTB38_uc010hun.3_Missense_Mutation_p.R1055H|ZBTB38_uc010huo.3_Missense_Mutation_p.R1058H|ZBTB38_uc003ety.3_Missense_Mutation_p.R1058H|ZBTB38_uc021xes.1_Missense_Mutation_p.R1058H	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.	1058					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AAACATGAACGCATCCACCTG	0.478													71	33					0	0	1	0	0	A	141164403	G	A	141164403	3	1	241	1	0	0	0	0	1	0	0	0	17536	1087	38	1	3175	1	ZBTB38	3	141164403	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	457	141164403	56858027	143	10119											
AADACL2	344752	broad.mit.edu	37	chr3	151461914	151461914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacttcctgaatagatggaCggcaaacacgcttgatgctg	11	10	11	9	2	0	4	0	3	0	1	1	5	1	5	1	2	2	3	1	2	3	3	rs145856421		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:151461914C>T	uc003ezc.3	+	2	515	c.395C>T	c.(394-396)aCg>aTg	p.T132M	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_5'UTR	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	132						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AATAGATGGACGGCAAACACG	0.358													72	25					0	0	1	0	0	T	151461914	C	T	151461914	3	4	241	1	0	0	0	0	1	0	0	0	11	536	19	1	405	1	AADACL2	3	151461914	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	10297511	151461914	46560516	144	10120											
MCCC1	56922	broad.mit.edu	37	chr3	182740306	182740306	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgcagtctccctcgctgtAaagattaccaaggacttgga	11	10	10	10	1	1	1	0	0	1	1	3	3	1	3	2	2	2	3	2	2	4	3	rs143892743		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:182740306A>G	uc003fle.3	-	15	1905	c.1768T>C	c.(1768-1770)Tac>Cac	p.Y590H	MCCC1_uc010hxi.3_Non-coding_Transcript|MCCC1_uc011bqo.2_Non-coding_Transcript|MCCC1_uc003flf.3_Missense_Mutation_p.Y473H|MCCC1_uc003flg.3_Missense_Mutation_p.Y481H|MCCC1_uc011bqp.1_Missense_Mutation_p.Y543H	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 1 (alpha) (MCCC1), nuclear gene encoding mitochondrial protein, mRNA.	590					biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CCCTCGCTGTAAAGATTACCA	0.313													15	57					0	0	1	0	0	G	182740306	A	G	182740306	3	3	241	1	0	0	0	0	1	0	0	0	9374	362	13	3	425	3	MCCC1	3	182740306	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	31278392	182740306	15282124	145	10121											
DGKQ	1609	broad.mit.edu	37	chr4	960969	960969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcccgcggcagagcccGgatgacccaggcctctggcg	5	4	16	16	4	1	2	0	1	1	1	1	3	1	3	4	5	1	1	4	5	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:960969G>A	uc003gbw.3	-	8	1242	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W	DGKQ_uc010ibn.3_Missense_Mutation_p.R390W	NM_001347	NP_001338	P52824	DGKQ_HUMAN	Homo sapiens diacylglycerol kinase, theta 110kDa (DGKQ), mRNA.	390					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	ATP binding|activating transcription factor binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGCAGAGCCCGGATGACCCAG	0.711													3	19					0	0	1	0	0	A	960969	G	A	960969	3	1	241	1	0	0	0	0	1	0	0	0	4473	1115	39	2	1720	2	DGKQ	4	960969	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08		960969	190193307	146	10122											
ZFYVE28	57732	broad.mit.edu	37	chr4	2306942	2306942	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccgcctgggctgccctcCgctcctggcctgtgagctgg	1	9	13	18	2	0	1	0	1	0	0	3	1	3	1	7	3	2	3	7	3	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:2306942C>T	uc003gex.2	-	7	1445	c.1125G>A	c.(1123-1125)gcG>gcA	p.A375A	ZFYVE28_uc011bvk.2_Silent_p.A305A|ZFYVE28_uc011bvl.2_Silent_p.A345A|ZFYVE28_uc003gew.2_Silent_p.A261A	NM_020972	NP_001166130	Q9HCC9	LST2_HUMAN	Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA.	375					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GGCTGCCCTCCGCTCCTGGCC	0.667													48	84					0	0	1	0	0	T	2306942	C	T	2306942	2	4	241	1	0	0	0	0	0	0	0	1	17667	639	23	2		2	ZFYVE28	4	2306942	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1345973	2306942	188847334	147	10123											
NOP14	8602	broad.mit.edu	37	chr4	2943380	2943380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggagaggccccatgatggCgtggaaggatggcagggacc	9	6	18	8	1	0	2	0	1	0	1	0	6	0	5	3	7	0	1	3	7	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:2943380C>T	uc003ggj.1	-	14	2200	c.2128G>A	c.(2128-2130)Gcc>Acc	p.A710T	NOP14-AS1_uc003ggd.1_Non-coding_Transcript|NOP14-AS1_uc003gge.1_Intron|NOP14-AS1_uc003ggg.1_Non-coding_Transcript|NOP14-AS1_uc003ggh.3_Intron|NOP14-AS1_uc003ggi.1_Intron|NOP14_uc010icp.2_Intron|NOP14_uc003ggl.3_Missense_Mutation_p.A710T	NM_003703	NP_003694	P78316	NOP14_HUMAN	Homo sapiens NOP14 nucleolar protein homolog (yeast) (NOP14), mRNA.	710					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	Noc4p-Nop14p complex|mitochondrion|small-subunit processome	snoRNA binding	p.H709H(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CCCATGATGGCGTGGAAGGAT	0.662													19	33					0	0	1	0	0	T	2943380	C	T	2943380	3	4	241	1	0	0	0	0	1	0	0	0	10536	768	27	1	461	1	NOP14	4	2943380	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	636438	2943380	188210896	148	10124											
GRK4	2868	broad.mit.edu	37	chr4	3037185	3037185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggtgaagcagcaccccGtgttcaaggacatcaacttc	10	8	11	12	1	2	1	2	1	0	0	3	2	2	2	2	3	3	3	2	3	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:3037185G>A	uc003ggn.1	+	12	1797	c.1342G>A	c.(1342-1344)Gtg>Atg	p.V448M	GRK4_uc003ggo.1_Missense_Mutation_p.V448M|GRK4_uc003ggp.1_Missense_Mutation_p.V416M|GRK4_uc003ggq.1_Missense_Mutation_p.V416M	NM_182982	NP_892027	P32298	GRK4_HUMAN	Homo sapiens G protein-coupled receptor kinase 4 (GRK4), transcript variant 1, mRNA.	448	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCAGCACCCCGTGTTCAAGGA	0.582													67	121					0	0	1	0	0	A	3037185	G	A	3037185	3	1	241	1	0	0	0	0	1	0	0	0	6791	1145	40	1	1392	1	GRK4	4	3037185	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	93805	3037185	188117091	149	10125											
MSX1	4487	broad.mit.edu	37	chr4	4864532	4864532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgctggagcgcaagttcCgccagaagcagtacctgtcc	8	7	13	13	3	0	1	0	0	0	1	2	2	2	2	4	2	3	5	4	2	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:4864532C>T	uc003gif.3	+	1	809	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C		NM_002448	NP_002439	P28360	MSX1_HUMAN	Homo sapiens msh homeobox 1 (MSX1), mRNA.	186					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCGCAAGTTCCGCCAGAAGCA	0.657													11	168					0	0	1	0	0	T	4864532	C	T	4864532	3	4	241	1	0	0	0	0	1	0	0	0	9895	652	23	2	580	2	MSX1	4	4864532	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1827347	4864532	186289744	150	10126											
STK32B	55351	broad.mit.edu	37	chr4	5418644	5418644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagggcttcctccatggctgGcaccaagccctacatgggtg	8	8	12	13	0	0	0	0	0	0	0	2	0	2	0	4	4	2	3	4	4	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:5418644G>A	uc003gih.1	+	5	609	c.545G>A	c.(544-546)gGc>gAc	p.G182D	STK32B_uc010ida.1_Missense_Mutation_p.G135D	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	Homo sapiens serine/threonine kinase 32B (STK32B), mRNA.	182	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						TCCATGGCTGGCACCAAGCCC	0.493													3	27					0	0	1	0	0	A	5418644	G	A	5418644	3	1	241	1	0	0	0	0	1	0	0	0	15297	1203	42	3	567	3	STK32B	4	5418644	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	554112	5418644	185735632	151	10127											
JAKMIP1	152789	broad.mit.edu	37	chr4	6052396	6052397	+	Frame_Shift_Del	DEL	CT	CT	-																															ggttaaatgctggcgacctcCtctctctctcctggggaaaa																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:6052396_6052397delCT	uc010idb.1	-	13	2302_2303	c.1816_1817delAG	c.(1816-1818)aggfs	p.R606fs	JAKMIP1_uc010idc.1_Frame_Shift_Del_p.R421fs|JAKMIP1_uc010idd.1_Intron	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	378	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGGCGACCTCCTCTCTCTCTCC	0.485													3	5	---	---	---	---						-	6052397	CT	-	6052396	7	5	241	1	0	1	0	1	0	0	0	0	7940	681	24	0	710	0	JAKMIP1	4	6052396	Frame_Shift_Del	DEL	CT	TCGA-HT-8564-01A-11D-2395-08	633752	6052396	185101880	152	10128											
MAN2B2	23324	broad.mit.edu	37	chr4	6588894	6588894	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagccatgcaggaggcccGggtgagtggtgtgccgcgtc	5	6	19	11	3	0	1	0	1	0	0	1	2	0	2	3	5	3	2	3	5	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:6588894G>A	uc003gjf.1	+	4	600	c.564_splice	c.e4+1	p.R188_splice	MAN2B2_uc003gje.1_Splice_Site_p.R188_splice|MAN2B2_uc011bwf.1_Splice_Site_p.R188_splice	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	188					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CAGGAGGCCCGGGTGAGTGGT	0.642													22	42					0	0	1	0	0	A	6588894	G	A	6588894	5	1	241	1	0	0	0	0	0	0	1	0	9217	1130	39	2	577	2	MAN2B2	4	6588894	Splice_Site	SNP	G	TCGA-HT-8564-01A-11D-2395-08	536498	6588894	184565382	153	10129											
HTRA3	94031	broad.mit.edu	37	chr4	8293224	8293224	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcgtcagcactgcccagcGggagggcagggagctgggcc	7	4	17	13	2	1	0	1	0	0	0	2	2	1	2	2	4	4	3	2	4	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:8293224G>A	uc003gla.3	+	3	1043	c.836G>A	c.(835-837)cGg>cAg	p.R279Q	HTRA3_uc003gkz.3_Missense_Mutation_p.R279Q	NM_053044	NP_444272	P83110	HTRA3_HUMAN	Homo sapiens HtrA serine peptidase 3 (HTRA3), mRNA.	279	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	p.R279W(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						ACTGCCCAGCGGGAGGGCAGG	0.657													38	37					0	0	1	0	0	A	8293224	G	A	8293224	3	1	241	1	0	0	0	0	1	0	0	0	7455	1116	39	2	850	2	HTRA3	4	8293224	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1704330	8293224	182861052	154	10130											
DRD5	1816	broad.mit.edu	37	chr4	9783925	9783925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtcagaccttttcgtggCgctgctggtcatgccctgga	4	12	13	12	3	2	1	2	0	0	1	3	2	2	2	2	3	2	2	2	3	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:9783925C>T	uc003gmb.4	+	0	668	c.272C>T	c.(271-273)gCg>gTg	p.A91V		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	91					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.V90M(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CTTTTCGTGGCGCTGCTGGTC	0.632													24	101					0	0	1	0	0	T	9783925	C	T	9783925	3	4	241	1	0	0	0	0	1	0	0	0	4760	768	27	1	274	1	DRD5	4	9783925	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1490701	9783925	181370351	155	10131											
PACRGL	133015	broad.mit.edu	37	chr4	20715162	20715162	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagcatctgcttacaagCgtaagtactgcaaagattag	14	10	9	8	1	1	2	0	1	1	1	1	2	1	2	0	0	6	5	0	0	7	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:20715162C>T	uc010iei.1	+	9	999	c.753_splice	c.e9+1	p.S251_splice	PACRGL_uc003gpu.3_Splice_Site|PACRGL_uc003gpz.3_Splice_Site_p.S203_splice|PACRGL_uc011bxm.2_Splice_Site_p.S150_splice|PACRGL_uc003gqa.3_Splice_Site_p.S105_splice|PACRGL_uc010iek.3_Splice_Site_p.S203_splice|PACRGL_uc010iej.1_Splice_Site|PACRGL_uc011bxn.2_Splice_Site_p.S105_splice	NM_145048	NP_659485	Q8N7B6	PACRL_HUMAN	Homo sapiens PARK2 co-regulated-like (PACRGL), transcript variant 1, mRNA.	203							binding			endometrium(2)|lung(7)|prostate(1)	10						TGCTTACAAGCGTAAGTACTG	0.373													34	53					0	0	1	0	0	T	20715162	C	T	20715162	5	4	241	1	0	0	0	0	0	0	1	0	11371	782	27	1	631	1	PACRGL	4	20715162	Splice_Site	SNP	C	TCGA-HT-8564-01A-11D-2395-08	10931237	20715162	170439114	156	10132											
TMEM156	80008	broad.mit.edu	37	chr4	38990512	38990512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctggccttcaagtattttgCggatagtgaggatgatcaaa	11	13	11	6	1	3	2	2	2	1	0	3	4	3	4	1	3	1	1	1	3	4	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:38990512C>T	uc003gto.3	-	3	806	c.698G>A	c.(697-699)cGc>cAc	p.R233H	TMEM156_uc010ifj.3_Missense_Mutation_p.R233H	NM_024943	NP_079219	Q8N614	TM156_HUMAN	Homo sapiens transmembrane protein 156 (TMEM156), mRNA.	233						integral to membrane		p.R233S(1)		endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						AAGTATTTTGCGGATAGTGAG	0.358													83	151					0	0	1	0	0	T	38990512	C	T	38990512	3	4	241	1	0	0	0	0	1	0	0	0	16070	768	27	1	204	1	TMEM156	4	38990512	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	18275350	38990512	152163764	157	10133											
STAP1	26228	broad.mit.edu	37	chr4	68447189	68447189	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtactgaaccctatgccagCgtaagtgcacaatgaactgc	12	9	9	11	1	0	2	0	2	0	0	0	2	0	2	2	0	7	3	2	0	6	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:68447189C>T	uc003hde.4	+	5	612	c.530_splice	c.e5+1	p.A177_splice	STAP1_uc003hdf.3_Splice_Site_p.A177_splice	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN	Homo sapiens signal transducing adaptor family member 1 (STAP1), mRNA.	177	SH2.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						CCTATGCCAGCGTAAGTGCAC	0.393													56	131					0	0	1	0	0	T	68447189	C	T	68447189	5	4	241	1	0	0	0	0	0	0	1	0	15251	782	27	1	548	1	STAP1	4	68447189	Splice_Site	SNP	C	TCGA-HT-8564-01A-11D-2395-08	29456677	68447189	122707087	158	10134											
UGT2B11	10720	broad.mit.edu	37	chr4	70079942	70079942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggagactgtacacaaaccGtatgttaagtagcgcagcca	13	7	11	10	3	0	1	0	0	0	1	0	2	0	1	2	1	4	5	2	1	5	4	rs148268917		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:70079942G>A	uc003heh.3	-	0	508	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	167					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.R167R(3)|p.R167Q(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TACACAAACCGTATGTTAAGT	0.418													51	93					0	0	1	0	0	A	70079942	G	A	70079942	3	1	241	1	0	0	0	0	1	0	0	0	16954	1144	40	1	1114	1	UGT2B11	4	70079942	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1632753	70079942	121074334	159	10135											
SHROOM3	57619	broad.mit.edu	37	chr4	77662039	77662039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagagggagcccgagtggCgggacaggcccggctcgccc	7	2	18	14	4	0	1	0	0	0	1	1	5	0	3	3	5	1	1	3	5	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:77662039C>T	uc011cbx.2	+	4	3666	c.2713C>T	c.(2713-2715)Cgg>Tgg	p.R905W	SHROOM3_uc011cbz.1_Missense_Mutation_p.R729W|SHROOM3_uc003hkf.1_Missense_Mutation_p.R780W|SHROOM3_uc003hkg.3_Missense_Mutation_p.R683W	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	905					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCCCGAGTGGCGGGACAGGCC	0.711													11	19					0	0	1	0	0	T	77662039	C	T	77662039	3	4	241	1	0	0	0	0	1	0	0	0	14295	759	27	1	2731	1	SHROOM3	4	77662039	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	7582097	77662039	113492237	160	10136											
BMP2K	55589	broad.mit.edu	37	chr4	79793824	79793824	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctagctcaacatcagccGtctcaacaacaggcatcacc	13	7	6	15	1	4	0	4	0	1	0	5	0	4	0	2	1	6	3	2	1	4	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:79793824G>A	uc003hlk.3	+	12	1831	c.1665G>A	c.(1663-1665)ccG>ccA	p.P555P	BMP2K_uc003hlj.3_Silent_p.P555P|BMP2K_uc003hll.3_Silent_p.P19P	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	Homo sapiens BMP2 inducible kinase (BMP2K), transcript variant 1, mRNA.	555	Gln/His-rich.					nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						AACATCAGCCGTCTCAACAAC	0.443													36	63					0	0	1	0	0	A	79793824	G	A	79793824	2	1	241	1	0	0	0	0	0	0	0	1	1460	1132	40	1		1	BMP2K	4	79793824	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2131785	79793824	111360452	161	10137											
PRKG2	5593	broad.mit.edu	37	chr4	82026998	82026998	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaatcaaatcctcaggtcGtcgtgttatcttcctgggaa	9	12	9	11	3	3	0	2	0	1	0	7	2	5	1	3	2	0	1	3	2	4	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:82026998G>A	uc003hmh.2	-	14	2045	c.2032C>T	c.(2032-2034)Cga>Tga	p.R678*	PRKG2_uc011ccf.1_Nonsense_Mutation_p.R258*|PRKG2_uc011ccg.1_Nonsense_Mutation_p.R258*|PRKG2_uc011cch.1_Nonsense_Mutation_p.R649*	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	678	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TCCTCAGGTCGTCGTGTTATC	0.423													28	121					0	0	1	0	0	A	82026998	G	A	82026998	4	1	241	1	0	0	0	0	0	1	0	0	12523	1153	40	1	272	1	PRKG2	4	82026998	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2233174	82026998	109127278	162	10138											
EGF	1950	broad.mit.edu	37	chr4	110915913	110915913	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactccaccccctcacctcaGggaagatgaccaccactatt	11	8	5	17	0	2	2	2	1	0	1	3	3	3	3	6	1	1	0	6	1	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:110915913G>T	uc003hzy.4	+	19	3334	c.2882G>T	c.(2881-2883)aGg>aTg	p.R961M	EGF_uc011cfu.2_Missense_Mutation_p.R919M|EGF_uc011cfv.2_Missense_Mutation_p.R920M|EGF_uc010imk.3_Missense_Mutation_p.R109M	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	961					DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	p.R961R(1)		breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CCTCACCTCAGGGAAGATGAC	0.428													35	152					1.90571e-15	1.94491e-15	1	1	0	T	110915913	G	T	110915913	3	4	241	1	0	0	0	0	1	0	0	0	4962	1000	35	5	2960	5	EGF	4	110915913	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	28888915	110915913	80238363	163	10139											
TRPC3	7222	broad.mit.edu	37	chr4	122835949	122835949	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtaccctgctgcaaggtgCgatccagtagccaatggcca	11	7	11	12	1	0	0	0	0	0	0	1	1	1	0	4	2	5	4	4	2	5	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:122835949C>T	uc003ieg.2	-	3	1401	c.1327G>A	c.(1327-1329)Gca>Aca	p.A443T	TRPC3_uc010inr.2_Intron|TRPC3_uc003ief.2_Missense_Mutation_p.A370T|TRPC3_uc011cgl.1_Missense_Mutation_p.A107T	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	358					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTGCAAGGTGCGATCCAGTAG	0.483													29	46					0	0	1	0	0	T	122835949	C	T	122835949	3	4	241	1	0	0	0	0	1	0	0	0	16576	768	27	1	1474	1	TRPC3	4	122835949	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	11920036	122835949	68318327	164	10140											
SLC25A31	83447	broad.mit.edu	37	chr4	128651877	128651877	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcgaagcagatcagcccCgaggcgcggtacaaaggcat	11	5	13	12	5	1	1	1	0	0	1	3	3	1	1	2	3	3	3	2	3	3	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:128651877C>T	uc003ifl.3	+	0	323	c.177C>T	c.(175-177)ccC>ccT	p.P59P		NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31 (SLC25A31), nuclear gene encoding mitochondrial protein, mRNA.	59					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						AGATCAGCCCCGAGGCGCGGT	0.701													37	50					0	0	1	0	0	T	128651877	C	T	128651877	2	4	241	1	0	0	0	0	0	0	0	1	14495	639	23	2		2	SLC25A31	4	128651877	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5815928	128651877	62502399	165	10141											
LRBA	987	broad.mit.edu	37	chr4	151829999	151829999	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtcgctttctgctttgaatTtaaatgtaccctaagaatta	11	16	7	7	1	1	2	0	1	1	1	2	2	1	2	1	1	2	3	1	1	7	7			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:151829999T>G	uc010ipj.3	-	9	1416	c.1172A>C	c.(1171-1173)aAa>aCa	p.K391T	LRBA_uc003ilu.4_Missense_Mutation_p.K391T|LRBA_uc010ipk.1_Missense_Mutation_p.K310T	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	391						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGCTTTGAATTTAAATGTACC	0.363													19	64					0	0	1	0	0	G	151829999	T	G	151829999	3	3	241	1	0	0	0	0	1	0	0	0	8931	1841	64	5	7615	5	LRBA	4	151829999	Missense_Mutation	SNP	T	TCGA-HT-8564-01A-11D-2395-08	23178122	151829999	39324277	166	10142											
LRBA	987	broad.mit.edu	37	chr4	151850067	151850067	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgcagacttgaagattccGtatgcttttcttcagaatgg	10	14	10	7	1	2	4	1	1	1	3	3	4	3	4	1	1	2	3	1	1	3	6			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:151850067G>A	uc010ipj.3	-	2	611	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W	LRBA_uc003ilu.4_Missense_Mutation_p.R123W|LRBA_uc010ipk.1_Missense_Mutation_p.R42W	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	123						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGAAGATTCCGTATGCTTTTC	0.388													33	144					0	0	1	0	0	A	151850067	G	A	151850067	3	1	241	1	0	0	0	0	1	0	0	0	8931	1144	40	1	8448	1	LRBA	4	151850067	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	20068	151850067	39304209	167	10143											
SFRP2	6423	broad.mit.edu	37	chr4	154709690	154709690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatcgaggcagacgggggCgaagagcgagcacaggaact	12	3	17	9	4	1	2	1	0	0	2	2	6	1	3	0	4	3	2	0	4	2	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:154709690C>T	uc003inv.1	-	0	539	c.298G>A	c.(298-300)Gcc>Acc	p.A100T		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	Homo sapiens secreted frizzled-related protein 2 (SFRP2), mRNA.	100	FZ.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding|fibronectin binding|integrin binding|receptor agonist activity			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				CAGACGGGGGCGAAGAGCGAG	0.647													37	220					0	0	1	0	0	T	154709690	C	T	154709690	3	4	241	1	0	0	0	0	1	0	0	0	14162	768	27	1	601	1	SFRP2	4	154709690	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2859623	154709690	36444586	168	10144											
FGB	2244	broad.mit.edu	37	chr4	155490927	155490927	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacggcatgttcttcagcaCgtatgacagagacaatgacg	13	8	10	10	3	2	3	1	2	1	1	2	4	2	3	0	1	2	4	0	1	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:155490927C>T	uc003ioa.4	+	6	1259	c.1220C>T	c.(1219-1221)aCg>aTg	p.T407M	FGB_uc010ipv.3_Missense_Mutation_p.T348M	NM_005141	NP_005132	P02675	FIBB_HUMAN	Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	407	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TTCTTCAGCACGTATGACAGA	0.423													46	76					0	0	1	0	0	T	155490927	C	T	155490927	3	4	241	1	0	0	0	0	1	0	0	0	5831	536	19	1	1246	1	FGB	4	155490927	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	781237	155490927	35663349	169	10145											
ACSL1	2180	broad.mit.edu	37	chr4	185724474	185724474	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgggccctccactcacCgccacttccactgactgcat	7	8	8	18	1	1	1	1	1	0	0	3	1	3	1	5	2	1	2	5	2	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:185724474C>A	uc003iww.2	-	2	489	c.195_splice	c.e2+1	p.A65_splice	ACSL1_uc011ckm.1_Splice_Site|ACSL1_uc003iwt.1_Splice_Site_p.A65_splice|ACSL1_uc003iwu.1_Splice_Site_p.A65_splice|ACSL1_uc011ckn.1_Splice_Site_p.A65_splice	NM_001995	NP_001986	P33121	ACSL1_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 1 (ACSL1), mRNA.	65					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTCCACTCACCGCCACTTCCA	0.557													12	15					7.03913e-09	7.12753e-09	1	1	0	A	185724474	C	A	185724474	5	1	241	1	0	0	0	0	0	0	1	0	177	666	23	5	1981	5	ACSL1	4	185724474	Splice_Site	SNP	C	TCGA-HT-8564-01A-11D-2395-08	30233547	185724474	5429802	170	10146											
CDH10	1008	broad.mit.edu	37	chr5	24491704	24491706	+	In_Frame_Del	DEL	GAG	GAG	-																															cccagtagaatgatgatgcaGaggaggatggcgatcaaggc																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:24491704_24491706delGAG	uc003jgr.2	-	10	2361_2363	c.1855_1857delCTC	c.(1855-1857)ctcdel	p.L619del	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	619					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGATGATGCAGAGGAGGATGGCG	0.483										HNSCC(23;0.051)			55	110	---	---	---	---						-	24491706	GAG	-	24491704	7	5	241	1	0	1	0	1	0	0	0	0	3096	929	33	0	517	0	CDH10	5	24491704	In_Frame_Del	DEL	GAG	TCGA-HT-8564-01A-11D-2395-08		24491704	156423556	171	10147											
NPR3	4883	broad.mit.edu	37	chr5	32739001	32739001	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagagaggagacaaacaCgactttgaagctaagcaagc	17	5	12	7	1	0	3	0	1	0	2	0	7	0	4	0	2	4	2	0	2	5	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:32739001C>T	uc003jhv.3	+	2	1369	c.924C>T	c.(922-924)caC>caT	p.H308H	NPR3_uc010iuo.3_Silent_p.H92H|NPR3_uc003jhw.2_Silent_p.H92H|NPR3_uc003jhu.3_Silent_p.H308H	NM_001204375	NP_001191304	P17342	ANPRC_HUMAN	Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA.	308					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	p.H308H(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GAGACAAACACGACTTTGAAG	0.428													49	90					0	0	1	0	0	T	32739001	C	T	32739001	2	4	241	1	0	0	0	0	0	0	0	1	10596	535	19	1		1	NPR3	5	32739001	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	8247297	32739001	148176259	172	10148											
AGXT2	64902	broad.mit.edu	37	chr5	34998924	34998924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcacattgagggcgcaatgCgaaatgtctgaggagacacc	12	7	13	9	2	1	3	0	2	1	1	1	5	1	3	1	2	2	2	1	2	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:34998924C>T	uc003jjf.3	-	13	1688	c.1445G>A	c.(1444-1446)cGc>cAc	p.R482H	AGXT2_uc003jje.1_Missense_Mutation_p.R135H|AGXT2_uc011com.2_Missense_Mutation_p.R407H	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	Homo sapiens alanine--glyoxylate aminotransferase 2 (AGXT2), nuclear gene encoding mitochondrial protein, mRNA.	482					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	GGGCGCAATGCGAAATGTCTG	0.368													26	37					0	0	1	0	0	T	34998924	C	T	34998924	3	4	241	1	0	0	0	0	1	0	0	0	405	768	27	1	103	1	AGXT2	5	34998924	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2259923	34998924	145916336	173	10149											
CARD6	84674	broad.mit.edu	37	chr5	40854138	40854138	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accctcagtcctttcaaccaGcagcagccacacaaaaacta	15	6	4	16	0	2	0	2	0	0	0	3	0	3	0	4	0	5	2	4	0	4	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:40854138G>C	uc003jmg.3	+	2	2779	c.2704G>C	c.(2704-2706)Gca>Cca	p.A902P		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	902					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CTTTCAACCAGCAGCAGCCAC	0.483													73	119					0	0	1	0	0	C	40854138	G	C	40854138	3	2	241	1	0	0	0	0	1	0	0	0	2650	971	34	5	2714	5	CARD6	5	40854138	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	5855214	40854138	140061122	174	10150											
C6	729	broad.mit.edu	37	chr5	41159281	41159281	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggattattgcattctcGggttctcgatctcttataag	8	15	10	8	2	3	0	0	0	3	0	6	2	3	1	0	3	1	3	0	3	3	6			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:41159281G>A	uc003jmk.2	-	11	1969	c.1759C>T	c.(1759-1761)Cga>Tga	p.R587*	C6_uc003jml.1_Nonsense_Mutation_p.R587*	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	587	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTGCATTCTCGGGTTCTCGAT	0.493													58	80					0	0	1	0	0	A	41159281	G	A	41159281	4	1	241	1	0	0	0	0	0	1	0	0	2315	1124	39	2	1073	2	C6	5	41159281	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	305143	41159281	139755979	175	10151											
MIER3	166968	broad.mit.edu	37	chr5	56231270	56231270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttacctttctcattaccatCgtactctccaagataagggg	10	13	6	12	1	2	1	1	0	2	1	5	1	2	1	3	2	3	1	3	2	5	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:56231270C>T	uc003jrc.1	-	6	620	c.595G>A	c.(595-597)Gat>Aat	p.D199N	MIER3_uc003jqz.1_Missense_Mutation_p.D131N|MIER3_uc003jrd.1_Missense_Mutation_p.D194N|MIER3_uc003jra.1_Missense_Mutation_p.D194N|MIER3_uc003jrb.1_Missense_Mutation_p.D18N	NM_152622	NP_689835	Q7Z3K6	MIER3_HUMAN	Homo sapiens mesoderm induction early response 1, family member 3 (MIER3), mRNA.	194	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		TCATTACCATCGTACTCTCCA	0.313													26	121					0	0	1	0	0	T	56231270	C	T	56231270	3	4	241	1	0	0	0	0	1	0	0	0	9582	884	31	2	1097	2	MIER3	5	56231270	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	15071989	56231270	124683990	176	10152											
CENPK	64105	broad.mit.edu	37	chr5	64814369	64814369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctcaaggcaattccattaCgcagcagcagctcaacataa	14	8	7	12	1	2	0	2	0	1	0	4	0	3	0	1	1	5	5	1	1	5	3	rs147863579		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:64814369C>T	uc003jts.3	-	10	955	c.743G>A	c.(742-744)cGt>cAt	p.R248H	CENPK_uc003jtu.3_Missense_Mutation_p.R248H	NM_022145	NP_071428	Q9BS16	CENPK_HUMAN	Homo sapiens centromere protein K (CENPK), mRNA.	248					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm		p.L247L(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		AATTCCATTACGCAGCAGCAG	0.353													35	77					0	0	1	0	0	T	64814369	C	T	64814369	3	4	241	1	0	0	0	0	1	0	0	0	3235	536	19	1	70	1	CENPK	5	64814369	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	8583099	64814369	116100891	177	10153											
ERBB2IP	55914	broad.mit.edu	37	chr5	65371013	65371014	+	Frame_Shift_Ins	INS	-	-	C																															accagcctccatatacacagINSccccattgttctcctagaca																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:65371013_65371014insC	uc003juk.2	+	22	4228_4229	c.3918_3919insC	c.(3916-3921)cagcccfs	p.Q1306fs	ERBB2IP_uc011cqx.2_Frame_Shift_Ins_p.Q1313fs|ERBB2IP_uc003jui.2_Frame_Shift_Ins_p.Q1265fs|ERBB2IP_uc003jul.2_Frame_Shift_Ins_p.Q1261fs|ERBB2IP_uc011cqy.2_Frame_Shift_Ins_p.Q1265fs|ERBB2IP_uc003juj.2_Intron|ERBB2IP_uc011cqz.2_Frame_Shift_Ins_p.Q504fs|ERBB2IP_uc010iwx.2_Frame_Shift_Ins_p.Q1309fs	NM_001253697	NP_001240626	Q96RT1	LAP2_HUMAN	Homo sapiens erbb2 interacting protein (ERBB2IP), transcript variant 1, mRNA.	1306					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CATATACACAGCCCCATTGTTC	0.421													27	230	---	---	---	---						C	65371014	-	C	65371013	7	5	241	1	0	1	1	0	0	0	0	0	5207	962	34	0	3873	0	ERBB2IP	5	65371013	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	556644	65371013	115544247	178	10154											
SLC30A5	64924	broad.mit.edu	37	chr5	68413208	68413208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtaggtggaaagccactcGgattttctcctatgggtagg	9	11	14	7	1	1	0	0	0	1	0	3	3	1	2	2	5	1	2	2	5	4	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:68413208G>A	uc003jvh.3	+	10	1731	c.1424G>A	c.(1423-1425)cGg>cAg	p.R475Q	SLC30A5_uc003jvj.3_Non-coding_Transcript|SLC30A5_uc003jvk.3_Missense_Mutation_p.R204Q|SLC30A5_uc003jvi.3_Missense_Mutation_p.R304Q	NM_022902	NP_075053	Q8TAD4	ZNT5_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 5 (SLC30A5), transcript variant 1, mRNA.	475					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	Golgi apparatus|apical plasma membrane|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		AAAGCCACTCGGATTTTCTCC	0.413													65	93					0	0	1	0	0	A	68413208	G	A	68413208	3	1	241	1	0	0	0	0	1	0	0	0	14558	1116	39	2	1554	2	SLC30A5	5	68413208	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3042195	68413208	112502052	179	10155											
MARVELD2	153562	broad.mit.edu	37	chr5	68716104	68716104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taactgaatttggaattaacGttgccttgtttattttgtat	10	20	7	4	1	0	1	0	1	0	0	0	2	0	2	1	1	3	3	1	1	6	10			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:68716104G>A	uc003jwq.3	+	1	966	c.892G>A	c.(892-894)Gtt>Att	p.V298I	MARVELD2_uc010ixf.3_Missense_Mutation_p.V298I|MARVELD2_uc003jws.1_Intron	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA.	298	MARVEL.				sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		TGGAATTAACGTTGCCTTGTT	0.423													56	112					0	0	1	0	0	A	68716104	G	A	68716104	3	1	241	1	0	0	0	0	1	0	0	0	9318	1145	40	1	894	1	MARVELD2	5	68716104	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	302896	68716104	112199156	180	10156											
PDE8B	8622	broad.mit.edu	37	chr5	76649192	76649192	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaattaggcattttgtctcGctcaagaaactgtgttgtac	12	14	8	7	1	2	1	1	0	1	1	3	1	2	1	0	1	2	4	0	1	6	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:76649192G>A	uc003kfa.3	+	9	1173	c.1128G>A	c.(1126-1128)tcG>tcA	p.S376S	PDE8B_uc003kfd.3_Silent_p.S329S|PDE8B_uc003kfe.3_Intron|PDE8B_uc003kfb.3_Silent_p.S356S|PDE8B_uc003kfc.3_Silent_p.S376S	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	376					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		ATTTTGTCTCGCTCAAGAAAC	0.368													24	43					0	0	1	0	0	A	76649192	G	A	76649192	2	1	241	1	0	0	0	0	0	0	0	1	11654	1074	38	1		1	PDE8B	5	76649192	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	7933088	76649192	104266068	181	10157											
ZCCHC9	84240	broad.mit.edu	37	chr5	80604490	80604490	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtgggtccacagagcaCgaaataaccaagtgtaaggc	14	6	13	8	1	0	1	0	0	0	1	1	2	1	1	2	3	2	2	2	3	4	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:80604490C>T	uc003khk.4	+	2	985	c.495C>T	c.(493-495)caC>caT	p.H165H	RNU5E-1_uc011cto.1_Intron|ZCCHC9_uc003khi.3_Silent_p.H165H|ZCCHC9_uc003khj.3_Silent_p.H165H	NM_032280	NP_115656	Q8N567	ZCHC9_HUMAN	Homo sapiens zinc finger, CCHC domain containing 9 (ZCCHC9), transcript variant 1, mRNA.	165							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		CCACAGAGCACGAAATAACCA	0.448													38	54					0	0	1	0	0	T	80604490	C	T	80604490	2	4	241	1	0	0	0	0	0	0	0	1	17592	535	19	1		1	ZCCHC9	5	80604490	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3955298	80604490	100310770	182	10158											
PPIP5K2	23262	broad.mit.edu	37	chr5	102537324	102537324	+	Frame_Shift_Del	DEL	A	A	-																															aacacaaaaaaaacactgggAaaaagaaatgaaatcttagc																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:102537324delA	uc003kod.4	+	30	4240	c.3721delA	c.(3721-3723)aaafs	p.K1241fs	PPIP5K2_uc011cva.2_Non-coding_Transcript|PPIP5K2_uc003koe.3_Frame_Shift_Del_p.K1220fs|PPIP5K2_uc003kof.3_Frame_Shift_Del_p.K423fs	NM_015216	NP_056031	O43314	VIP2_HUMAN	Homo sapiens diphosphoinositol pentakisphosphate kinase 2 (PPIP5K2), mRNA.	1241					inositol metabolic process	cytosol	ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAACACTGGGAAAAAGAAATG	0.313													13	15	---	---	---	---						-	102537324	A	-	102537324	7	5	241	1	0	1	0	1	0	0	0	0	12333	247	9	0	3772	0	PPIP5K2	5	102537324	Frame_Shift_Del	DEL	A	TCGA-HT-8564-01A-11D-2395-08	21932834	102537324	78377936	183	10159											
MCC	4163	broad.mit.edu	37	chr5	112363035	112363037	+	In_Frame_Del	DEL	CTC	CTC	-																															ttggtgtgtggcctggagttCtcctcctctagcagagctat																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:112363035_112363037delCTC	uc003kql.4	-	18	3438_3440	c.3022_3024delGAG	c.(3022-3024)gagdel	p.E1008del	MCC_uc003kqj.4_In_Frame_Del_p.E818del|MCC_uc003kqk.4_Non-coding_Transcript	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	818					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GCCTGGAGTTCTCCTCCTCTAGC	0.507													52	90	---	---	---	---						-	112363037	CTC	-	112363035	7	5	241	1	0	1	0	1	0	0	0	0	9373	912	32	0	39	0	MCC	5	112363035	In_Frame_Del	DEL	CTC	TCGA-HT-8564-01A-11D-2395-08	9825711	112363035	68552225	184	10160											
KIF3A	11127	broad.mit.edu	37	chr5	132051569	132051569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttagcacgattggcataccGtaatgtactgatagtttcat	11	14	8	8	2	1	1	1	1	0	0	1	2	1	1	1	1	3	5	1	1	5	7			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:132051569G>A	uc011cxf.2	-	7	1163	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W	KIF3A_uc003kxn.3_Missense_Mutation_p.R296W|KIF3A_uc003kxo.3_Missense_Mutation_p.R337W|KIF3A_uc003kxp.3_Missense_Mutation_p.R337W	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	Homo sapiens kinesin family member 3A (KIF3A), mRNA.	337	Kinesin-motor.				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding	p.R337W(3)		endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGGCATACCGTAATGTACTG	0.328													7	22					0	0	1	0	0	A	132051569	G	A	132051569	3	1	241	1	0	0	0	0	1	0	0	0	8300	1144	40	1	1130	1	KIF3A	5	132051569	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	19688534	132051569	48863691	185	10161											
KDM3B	51780	broad.mit.edu	37	chr5	137721747	137721749	+	In_Frame_Del	DEL	AAG	AAG	-																															cagtaaaatcttccaaaggaAagaagaagagagaaagcata																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:137721747_137721749delAAG	uc003lcy.1	+	6	1017_1019	c.817_819delAAG	c.(817-819)aagdel	p.K275del	KDM3B_uc010jew.1_5'UTR|KDM3B_uc011cys.1_5'Flank	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	275					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TTCCAAAGGAAAGAAGAAGAGAG	0.419													65	142	---	---	---	---						-	137721749	AAG	-	137721747	7	5	241	1	0	1	0	1	0	0	0	0	8127	15	1	0	843	0	KDM3B	5	137721747	In_Frame_Del	DEL	AAG	TCGA-HT-8564-01A-11D-2395-08	5670178	137721747	43193513	186	10162											
PSD2	84249	broad.mit.edu	37	chr5	139189297	139189298	+	Frame_Shift_Del	DEL	AA	AA	-																															gccagacttgaacattctggAagattcagcggagtccaggc																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:139189297_139189298delAA	uc003leu.1	+	1	477_478	c.272_273delAA	c.(271-273)gaafs	p.E91fs		NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 2 (PSD2), mRNA.	91					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACATTCTGGAAGATTCAGCGG	0.619													77	150	---	---	---	---						-	139189298	AA	-	139189297	7	5	241	1	0	1	0	1	0	0	0	0	12647	246	9	0	274	0	PSD2	5	139189297	Frame_Shift_Del	DEL	AA	TCGA-HT-8564-01A-11D-2395-08	1467550	139189297	41725963	187	10163											
TMCO6	55374	broad.mit.edu	37	chr5	140021557	140021557	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgagctctctcactccgaGcagtccactgttgctgaggc	7	10	10	14	1	2	2	1	2	1	0	5	3	4	2	2	1	3	4	2	1	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:140021557G>A	uc003lgm.3	+	3	518	c.417G>A	c.(415-417)gaG>gaA	p.E139E	TMCO6_uc011czj.1_3'UTR|TMCO6_uc003lgl.3_Silent_p.E139E|TMCO6_uc010jft.3_Intron|TMCO6_uc003lgn.3_Silent_p.E30E|TMCO6_uc003lgo.3_5'Flank	NM_018502	NP_060972	Q96DC7	TMCO6_HUMAN	Homo sapiens transmembrane and coiled-coil domains 6 (TMCO6), mRNA.	139					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACTCCGAGCAGTCCACTG	0.617													36	167					0	0	1	0	0	A	140021557	G	A	140021557	2	1	241	1	0	0	0	0	0	0	0	1	15997	962	34	3		3	TMCO6	5	140021557	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	832260	140021557	40893703	188	10164											
PCDHAC2	56134	broad.mit.edu	37	chr5	140209817	140209817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccagcctgctggtcctcaCgctactgctgtacacagcgc	7	9	9	16	2	1	0	1	0	0	0	3	0	3	0	3	1	6	4	3	1	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:140209817C>T	uc003lho.2	+	0	2168	c.2141C>T	c.(2140-2142)aCg>aTg	p.T714M	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Missense_Mutation_p.T714M	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	722					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.T714M(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTCCTCACGCTACTGCTG	0.706													81	128					0	0	1	0	0	T	140209817	C	T	140209817	3	4	241	1	0	0	0	0	1	0	0	0	11533	536	19	1		1	PCDHAC2	5	140209817	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	188260	140209817	40705443	189	10165											
PCDHAC2	56134	broad.mit.edu	37	chr5	140255597	140255601	+	Frame_Shift_Del	DEL	TAAAA	TAAAA	-																															ctaaatgagaattttgagctTaaaataaaaacaaaaaaaga																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:140255597_140255601delTAAAA	uc003lic.2	+	0	667_671	c.540_544delTAAAA	c.(538-546)cttaaaatafs	p.L180fs	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Frame_Shift_Del_p.L180fs	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	195	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.L180L(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTTGAGCTTAAAATAAAAACAAA	0.366													20	82	---	---	---	---						-	140255601	TAAAA	-	140255597	7	5	241	1	0	1	0	1	0	0	0	0	11533	1741	61	0		0	PCDHAC2	5	140255597	Frame_Shift_Del	DEL	TAAAA	TCGA-HT-8564-01A-11D-2395-08	45780	140255597	40659663	190	10166											
PCDHGC5	56097	broad.mit.edu	37	chr5	140769478	140769478	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccggatatcactgaccGccccgacccctctgacctcc	6	7	8	20	3	2	2	1	2	1	0	3	4	3	3	8	1	1	1	8	1	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:140769478G>A	uc003lkc.2	+	0	2027	c.2027G>A	c.(2026-2028)cGc>cAc	p.R676H	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	680	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCACTGACCGCCCCGACCCC	0.617													15	279					0	0	1	0	0	A	140769478	G	A	140769478	3	1	241	1	0	0	0	0	1	0	0	0	11571	1087	38	1		1	PCDHGC5	5	140769478	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	513881	140769478	40145782	191	10167											
ARAP3	64411	broad.mit.edu	37	chr5	141035270	141035270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatagtgccaaacttctgaCgggcaaggtcagaggaggaa	13	6	14	8	1	2	2	1	1	1	1	2	4	2	4	1	4	2	2	1	4	4	2	rs138515824	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:141035270C>T	uc003llm.3	-	30	4106	c.4028G>A	c.(4027-4029)cGt>cAt	p.R1343H	ARAP3_uc003lll.3_Missense_Mutation_p.R294H|ARAP3_uc011dbe.2_Missense_Mutation_p.R1005H|ARAP3_uc003lln.3_Missense_Mutation_p.R1174H	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	1343					cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						AAACTTCTGACGGGCAAGGTC	0.597													41	70					0	0	1	0	0	T	141035270	C	T	141035270	3	4	241	1	0	0	0	0	1	0	0	0	840	536	19	1	618	1	ARAP3	5	141035270	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	265792	141035270	39879990	192	10168											
SYNPO	11346	broad.mit.edu	37	chr5	150029450	150029450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcccgaagcccagcccGgaccccgcctgcctccctct	5	5	9	22	3	1	0	0	0	1	0	3	2	3	1	8	2	3	1	8	2	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:150029450G>A	uc003lsn.3	+	2	2719	c.2345G>A	c.(2344-2346)cGg>cAg	p.R782Q	SYNPO_uc021yfu.1_Missense_Mutation_p.R782Q|SYNPO_uc003lso.4_Missense_Mutation_p.R538Q|SYNPO_uc003lsp.3_Missense_Mutation_p.R538Q|SYNPO_uc021yfv.1_Missense_Mutation_p.R538Q	NM_001166208	NP_001159681	Q8N3V7	SYNPO_HUMAN	Homo sapiens synaptopodin (SYNPO), transcript variant 3, mRNA.	782	Pro-rich.				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCCAGCCCGGACCCCGCCT	0.687													55	211					0	0	1	0	0	A	150029450	G	A	150029450	3	1	241	1	0	0	0	0	1	0	0	0	15453	1116	39	2	2351	2	SYNPO	5	150029450	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	8994180	150029450	30885810	193	10169											
SLC36A1	206358	broad.mit.edu	37	chr5	150856223	150856223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacctgggcatggtcatcGtcaccatcctctacatcagc	8	11	8	14	1	4	0	3	0	1	0	6	0	5	0	3	2	3	2	3	2	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:150856223G>A	uc003luc.3	+	8	1112	c.895G>A	c.(895-897)Gtc>Atc	p.V299I	SLC36A1_uc003lub.1_Missense_Mutation_p.V299I|SLC36A1_uc010jhw.1_Missense_Mutation_p.V299I	NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 1 (SLC36A1), mRNA.	299					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	CATGGTCATCGTCACCATCCT	0.517													54	82					0	0	1	0	0	A	150856223	G	A	150856223	3	1	241	1	0	0	0	0	1	0	0	0	14593	1145	40	1	925	1	SLC36A1	5	150856223	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	826773	150856223	30059037	194	10170											
ODZ2	57451	broad.mit.edu	37	chr5	167689238	167689238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagaagggcgggtgaccaCgggcgtgtccagcatcgcca	10	4	15	12	4	0	2	0	1	0	1	2	2	1	2	3	3	1	1	3	3	2	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:167689238C>T	uc010jjd.3	+	28	7721	c.7721C>T	c.(7720-7722)aCg>aTg	p.T2574M	ODZ2_uc003lzr.4_Missense_Mutation_p.T2344M|ODZ2_uc003lzt.4_Missense_Mutation_p.T1947M|ODZ2_uc010jje.3_Missense_Mutation_p.T1838M	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CGGGTGACCACGGGCGTGTCC	0.572													4	11					0	0	1	0	0	T	167689238	C	T	167689238	3	4	241	1	0	0	0	0	1	0	0	0	10835	536	19	1	7835	1	ODZ2	5	167689238	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	16833015	167689238	13226022	195	10171											
HIGD2A	192286	broad.mit.edu	37	chr5	175815916	175815917	+	Frame_Shift_Del	DEL	AG	AG	-																															cccactgtttacaggaatccAgagagtttcaaggaaaagtt																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:175815916_175815917delAG	uc003meg.3	+	0	133_134	c.96_97delAG	c.(94-99)ccagagfs	p.P32fs	NOP16_uc003mee.3_5'Flank|NOP16_uc003med.3_5'Flank|NOP16_uc011dfl.2_5'Flank|NOP16_uc011dfm.1_5'Flank	NM_138820	NP_620175	Q9BW72	HIG2A_HUMAN	Homo sapiens HIG1 hypoxia inducible domain family, member 2A (HIGD2A), mRNA.	32	HIG1.					integral to membrane				large_intestine(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		ACAGGAATCCAGAGAGTTTCAA	0.564													94	154	---	---	---	---						-	175815917	AG	-	175815916	7	5	241	1	0	1	0	1	0	0	0	0	7109	175	7	0	98	0	HIGD2A	5	175815916	Frame_Shift_Del	DEL	AG	TCGA-HT-8564-01A-11D-2395-08	8126678	175815916	5099344	196	10172											
GPRIN1	114787	broad.mit.edu	37	chr5	176025905	176025905	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccccggctctgtctttcCtgtggacgcagaatccatgc	6	10	11	14	2	2	1	0	0	2	1	4	3	4	2	4	2	2	2	4	2	1	1	rs147380779	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:176025905C>A	uc003meo.1	-	1	1106	c.931G>T	c.(931-933)Gga>Tga	p.G311*	GPRIN1_uc021yif.1_Nonsense_Mutation_p.G311*	NM_052899	NP_443131	Q7Z2K8	GRIN1_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 1 (GPRIN1), mRNA.	311						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGTCTTTCCTGTGGACGCA	0.572													64	115					6.75472e-32	6.92654e-32	1	1	0	A	176025905	C	A	176025905	4	1	241	1	0	0	0	0	0	1	0	0	6729	690	24	5	2099	5	GPRIN1	5	176025905	Nonsense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	209989	176025905	4889355	197	10173											
SNCB	6620	broad.mit.edu	37	chr5	176056600	176056600	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctgcttggttttctccGcggctgccacaacgccctcc	3	10	8	20	3	1	0	0	0	1	0	3	0	2	0	6	2	3	3	6	2	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:176056600G>A	uc010jke.1	-	0	450	c.56C>T	c.(55-57)gCg>gTg	p.A19V	SNCB_uc021yij.1_Missense_Mutation_p.A19V|SNCB_uc003mep.3_Missense_Mutation_p.A19V|SNCB_uc003meq.3_Missense_Mutation_p.A19V|SNCB_uc021yig.1_Missense_Mutation_p.A19V|SNCB_uc021yih.1_Missense_Mutation_p.A19V|SNCB_uc021yii.1_Missense_Mutation_p.A19V|MIR4281_uc021yik.1_5'Flank|EIF4E1B_uc010jkf.1_5'Flank			Q16143	SYUB_HUMAN	Homo sapiens synuclein, beta (SNCB), transcript variant 1, mRNA.	19							calcium ion binding|phospholipase inhibitor activity	p.A19T(1)		breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTTTTCTCCGCGGCTGCCAC	0.677													11	52					0	0	1	0	0	A	176056600	G	A	176056600	3	1	241	1	0	0	0	0	1	0	0	0	14842	1087	38	1	368	1	SNCB	5	176056600	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	30695	176056600	4858660	198	10174											
ADAMTS2	9509	broad.mit.edu	37	chr5	178566910	178566910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgggttgtcacactggcGggtcctgaacttcacgcccg	5	10	13	13	3	2	1	2	1	0	0	3	1	3	1	2	3	1	1	2	3	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:178566910G>A	uc003mjw.3	-	10	1858	c.1756C>T	c.(1756-1758)Cgc>Tgc	p.R586C		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	586	TSP type-1 1.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TCACACTGGCGGGTCCTGAAC	0.642													107	116					0	0	1	0	0	A	178566910	G	A	178566910	3	1	241	1	0	0	0	0	1	0	0	0	265	1116	39	2	1927	2	ADAMTS2	5	178566910	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2510310	178566910	2348350	199	10175											
HNRNPH1	3187	broad.mit.edu	37	chr5	179043155	179043155	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcatgctgctctggccaccGtagccgcctccgtaaccccc	5	8	8	20	3	2	0	1	0	1	0	3	0	3	0	7	1	4	4	7	1	2	2	rs115293737	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:179043155G>A	uc021yjd.1	-	10	1303	c.1272C>T	c.(1270-1272)taC>taT	p.Y424Y	HNRNPH1_uc011dgn.2_Silent_p.Y134Y|HNRNPH1_uc003mkf.4_Silent_p.Y424Y|HNRNPH1_uc003mkg.4_Silent_p.Y332Y|HNRNPH1_uc003mke.4_Silent_p.Y424Y|HNRNPH1_uc003mkh.4_Silent_p.Y424Y	NM_005520	NP_005511	P31943	HNRH1_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein H1 (H) (HNRNPH1), mRNA.	424	2 X 16 AA Gly-rich approximate repeats.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						TCTGGCCACCGTAGCCGCCTC	0.473													38	229					0	0	1	0	0	A	179043155	G	A	179043155	2	1	241	1	0	0	0	0	0	0	0	1	7266	1140	40	1		1	HNRNPH1	5	179043155	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	476245	179043155	1872105	200	10176											
MAPK9	5601	broad.mit.edu	37	chr5	179676062	179676062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatcatgaagttagtgcacGctgtccgggccaggccaaag	10	8	12	11	2	2	1	2	1	0	0	3	1	3	1	3	2	1	3	3	2	3	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:179676062G>A	uc003mls.4	-	5	798	c.527C>T	c.(526-528)gCg>gTg	p.A176V	MAPK9_uc003mlv.4_Missense_Mutation_p.A176V|MAPK9_uc003mlt.4_Missense_Mutation_p.A176V|MAPK9_uc010jlc.3_Missense_Mutation_p.A176V|MAPK9_uc021yji.1_Missense_Mutation_p.A150V|MAPK9_uc021yjj.1_Missense_Mutation_p.A176V|MAPK9_uc021yjk.1_Missense_Mutation_p.A176V|MAPK9_uc021yjl.1_Missense_Mutation_p.A176V|MAPK9_uc011dgx.2_Missense_Mutation_p.A176V	NM_002752	NP_002743	P45984	MK09_HUMAN	Homo sapiens mitogen-activated protein kinase 9 (MAPK9), transcript variant JNK2-a2, mRNA.	176	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTAGTGCACGCTGTCCGGGC	0.498													128	161					0	0	1	0	0	A	179676062	G	A	179676062	3	1	241	1	0	0	0	0	1	0	0	0	9287	1087	38	1	897	1	MAPK9	5	179676062	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	632907	179676062	1239198	201	10177											
FLT4	2324	broad.mit.edu	37	chr5	180046723	180046723	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccttgtggatgccgaaagcGgaggcttccaccaccttccc	7	8	10	16	2	0	0	0	0	0	0	2	3	2	2	6	3	2	1	6	3	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:180046723G>A	uc003mlz.4	-	17	2668	c.2589C>T	c.(2587-2589)tcC>tcT	p.S863S	FLT4_uc003mma.4_Silent_p.S863S|FLT4_uc003mmb.1_Silent_p.S396S	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	863	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGCCGAAAGCGGAGGCTTCCA	0.657													84	160					0	0	1	0	0	A	180046723	G	A	180046723	2	1	241	1	0	0	0	0	0	0	0	1	5944	1103	39	2		2	FLT4	5	180046723	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	370661	180046723	868537	202	10178											
TMEM14C	51522	broad.mit.edu	37	chr6	10725225	10725225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attggtttggctttggctacGcagcactggttgcttctggt	4	16	13	8	1	1	0	0	0	1	0	1	0	1	0	0	5	3	7	0	5	1	6			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:10725225G>A	uc010joq.2	+	2	423	c.52G>A	c.(52-54)Gca>Aca	p.A18T	TMEM14C_uc003mzh.3_Missense_Mutation_p.A18T|TMEM14C_uc021ylj.1_Missense_Mutation_p.A18T	NM_016462	NP_057546	Q9P0S9	TM14C_HUMAN	Homo sapiens transmembrane protein 14C (TMEM14C), transcript variant 2, mRNA.	18					heme biosynthetic process	integral to membrane|mitochondrial membrane				large_intestine(2)|lung(3)	5	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)	Epithelial(50;0.246)			CTTTGGCTACGCAGCACTGGT	0.448													87	278					0	0	1	0	0	A	10725225	G	A	10725225	3	1	241	1	0	0	0	0	1	0	0	0	16062	1087	38	1	58	1	TMEM14C	6	10725225	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08		10725225	160389842	203	10179											
ABCF1	23	broad.mit.edu	37	chr6	30552327	30552327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcagggggctggcgcatgCgtgtctccctggccaggtgg	3	9	17	12	2	2	0	1	0	2	0	4	0	2	0	2	6	1	2	2	6	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:30552327C>T	uc003nql.3	+	13	1470	c.1375C>T	c.(1375-1377)Cgt>Tgt	p.R459C	ABCF1_uc003nqk.2_Missense_Mutation_p.R460C|ABCF1_uc003nqm.3_Missense_Mutation_p.R421C	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 1 (ABCF1), transcript variant 1, mRNA.	459	ABC transporter 1.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CTGGCGCATGCGTGTCTCCCT	0.612													38	34					0	0	1	0	0	T	30552327	C	T	30552327	3	4	241	1	0	0	0	0	1	0	0	0	65	768	27	1	1429	1	ABCF1	6	30552327	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	19827102	30552327	140562740	204	10180											
FGD2	221472	broad.mit.edu	37	chr6	36978766	36978766	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggagccagagaagaagatCgtccaggagctgctggagac	13	4	15	9	1	0	4	0	0	0	4	2	8	1	6	2	3	3	2	2	3	2	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:36978766C>T	uc010jwp.1	+	2	489	c.318C>T	c.(316-318)atC>atT	p.I106I	FGD2_uc011dtu.1_Silent_p.I106I|FGD2_uc003ong.2_5'UTR|FGD2_uc011dtv.1_Intron|FGD2_uc003oni.1_5'Flank	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	106	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						AGAAGAAGATCGTCCAGGAGC	0.612													12	72					0	0	1	0	0	T	36978766	C	T	36978766	2	4	241	1	0	0	0	0	0	0	0	1	5833	874	31	2		2	FGD2	6	36978766	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	6426439	36978766	134136301	205	10181											
TDRD6	221400	broad.mit.edu	37	chr6	46656282	46656282	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcctggtgccggcaggctgCggcgcgggctcaggcgagcc	3	4	20	14	5	1	0	1	0	0	0	1	1	1	0	3	7	3	3	3	7	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:46656282C>T	uc003oyj.3	+	0	671	c.417C>T	c.(415-417)tgC>tgT	p.C139C	TDRD6_uc010jze.3_Silent_p.C139C	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	139					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CGGCAGGCTGCGGCGCGGGCT	0.711													4	19					0	0	1	0	0	T	46656282	C	T	46656282	2	4	241	1	0	0	0	0	0	0	0	1	15731	776	27	1		1	TDRD6	6	46656282	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	9677516	46656282	124458785	206	10182											
SNAP91	9892	broad.mit.edu	37	chr6	84417562	84417563	+	Frame_Shift_Ins	INS	-	-	T																															attacttcatgagtagtggcINStttgcagaccgctcttgcta																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:84417562_84417563insT	uc021zcf.1	-	0	114_115	c.84_85insA	c.(82-87)aaagccfs	p.K28fs	SNAP91_uc003pka.3_Frame_Shift_Ins_p.K28fs|SNAP91_uc011dze.2_Frame_Shift_Ins_p.K28fs|SNAP91_uc003pkc.3_Frame_Shift_Ins_p.K28fs|SNAP91_uc003pkd.3_Frame_Shift_Ins_p.K28fs|SNAP91_uc003pkb.3_5'UTR|SNAP91_uc011dzf.1_5'UTR	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	28	ENTH.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TGAGTAGTGGCTTTGCAGACCG	0.559													98	57	---	---	---	---						T	84417563	-	T	84417562	7	5	241	1	0	1	1	0	0	0	0	0	14833	797	28	0	2746	0	SNAP91	6	84417562	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	37761280	84417562	86697505	207	10183											
PEX3	8504	broad.mit.edu	37	chr6	143793364	143793364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaaagaaatcagaaatctcGttgagcagcataagtcttct	16	11	7	7	1	4	3	1	1	3	2	5	3	4	3	0	0	2	3	0	0	5	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:143793364G>A	uc003qjl.3	+	7	908	c.646G>A	c.(646-648)Gtt>Att	p.V216I	PEX3_uc011edx.1_Missense_Mutation_p.V216I	NM_003630	NP_003621	P56589	PEX3_HUMAN	Homo sapiens peroxisomal biogenesis factor 3 (PEX3), mRNA.	216					protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		CAGAAATCTCGTTGAGCAGCA	0.348													38	18					0	0	1	0	0	A	143793364	G	A	143793364	3	1	241	1	0	0	0	0	1	0	0	0	11747	1145	40	1	676	1	PEX3	6	143793364	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	59375802	143793364	27321703	208	10184											
LATS1	9113	broad.mit.edu	37	chr6	150005515	150005515	+	Frame_Shift_Del	DEL	G	G	-																															tccttacttgaggtggtggtGgggggttcactctctgtccg																								rs56149740		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:150005515delG	uc003qmu.1	-	3	1258	c.710delC	c.(709-711)ccafs	p.P237fs	LATS1_uc010kif.1_Frame_Shift_Del_p.P132fs|LATS1_uc003qmv.2_Frame_Shift_Del_p.P237fs|LATS1_uc003qmw.3_Frame_Shift_Del_p.P237fs|LATS1_uc010kig.1_Frame_Shift_Del_p.P132fs	NM_004690	NP_004681	O95835	LATS1_HUMAN	Homo sapiens LATS, large tumor suppressor, homolog 1 (Drosophila) (LATS1), mRNA.	237			P -> Q (in dbSNP:rs56149740).		G2/M transition of mitotic cell cycle|cell division|cytoplasmic sequestering of protein|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		AGGTGGTGGTGGGGGGTTCAC	0.532													18	149	---	---	---	---						-	150005515	G	-	150005515	7	5	241	1	0	1	0	1	0	0	0	0	8646	1348	47	0	2702	0	LATS1	6	150005515	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	6212151	150005515	21109552	209	10185											
WTAP	9589	broad.mit.edu	37	chr6	160176453	160176453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttacgtaaatcaactcagtgCggggtatgaaagtgtagact	13	11	11	6	2	2	2	2	1	0	1	2	2	2	2	0	2	3	3	0	2	7	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:160176453C>T	uc003qsl.3	+	7	1223	c.1001C>T	c.(1000-1002)gCg>gTg	p.A334V	WTAP_uc003qso.3_Missense_Mutation_p.A215V	NM_004906	NP_004897	Q15007	FL2D_HUMAN	Homo sapiens Wilms tumor 1 associated protein (WTAP), transcript variant 1, mRNA.	334					RNA splicing|cell cycle|mRNA processing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		CAACTCAGTGCGGGGTATGAA	0.483													33	64					0	0	1	0	0	T	160176453	C	T	160176453	3	4	241	1	0	0	0	0	1	0	0	0	17406	768	27	1	1031	1	WTAP	6	160176453	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	10170938	160176453	10938614	210	10186											
FRMD1	79981	broad.mit.edu	37	chr6	168463623	168463623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccaggatcacggtgggaCgaccttccttcttatcctag	7	11	10	13	2	2	0	1	0	1	0	5	3	5	2	4	3	0	0	4	3	2	4	rs115999698	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:168463623C>T	uc003qwo.4	-	6	886	c.821G>A	c.(820-822)cGt>cAt	p.R274H	FRMD1_uc003qwm.4_Missense_Mutation_p.R45H|FRMD1_uc011egs.2_Missense_Mutation_p.R45H|FRMD1_uc011egt.2_Missense_Mutation_p.R186H|FRMD1_uc003qwn.4_Missense_Mutation_p.R206H	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	Homo sapiens FERM domain containing 1 (FRMD1), transcript variant 1, mRNA.	274	FERM.		R -> C (in dbSNP:rs902393).			cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CACGGTGGGACGACCTTCCTT	0.622													29	58					0	0	1	0	0	T	168463623	C	T	168463623	3	4	241	1	0	0	0	0	1	0	0	0	6049	536	19	1	848	1	FRMD1	6	168463623	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	8287170	168463623	2651444	211	10187											
FAM120B	84498	broad.mit.edu	37	chr6	170626760	170626760	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctttgatggcatggtggaGcaggataagagagatgaatg	12	11	15	3	0	1	4	0	2	1	2	1	7	1	6	0	4	1	2	0	4	2	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:170626760G>T	uc003qxp.3	+	1	390	c.282G>T	c.(280-282)gaG>gaT	p.E94D	FAM120B_uc003qxo.1_Missense_Mutation_p.E94D|FAM120B_uc011ehd.2_Intron	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	Homo sapiens family with sequence similarity 120B (FAM120B), mRNA.	94					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GCATGGTGGAGCAGGATAAGA	0.443													7	93					0.0293803	0.029426	1	1	0	T	170626760	G	T	170626760	3	4	241	1	0	0	0	0	1	0	0	0	5417	962	34	5	284	5	FAM120B	6	170626760	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2163137	170626760	488307	212	10188											
GPER	2852	broad.mit.edu	37	chr7	1132151	1132151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgctccgcatgatcctcGcggtggtgctggtcttcttc	3	12	13	13	4	2	1	0	1	2	0	6	1	4	1	2	4	1	3	2	4	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:1132151G>A	uc010ksd.1	+	1	1176	c.787G>A	c.(787-789)Gcg>Acg	p.A263T	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Missense_Mutation_p.A263T|GPER_uc003ska.1_Missense_Mutation_p.A263T|GPER_uc003skb.2_Missense_Mutation_p.A263T|GPER_uc021zyo.1_Missense_Mutation_p.A263T	NM_001098201	NP_001091671	Q99527	GPER_HUMAN	Homo sapiens G protein-coupled estrogen receptor 1 (GPER), transcript variant 4, mRNA.	263						Golgi membrane|endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)		CATGATCCTCGCGGTGGTGCT	0.687													49	94					0	0	1	0	0	A	1132151	G	A	1132151	3	1	241	1	0	0	0	0	1	0	0	0	6607	1087	38	1	789	1	GPER	7	1132151	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08		1132151	158006512	213	10189											
FBXL18	80028	broad.mit.edu	37	chr7	5540761	5540761	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcaggttgcagcaggacGccaccagagtctccaggatg	9	5	15	12	2	1	1	0	0	1	1	2	3	1	3	3	4	2	4	3	4	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:5540761G>A	uc003soo.2	-	2	1233	c.1139C>T	c.(1138-1140)gCg>gTg	p.A380V	FBXL18_uc003son.4_Missense_Mutation_p.A380V	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	380									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GCAGCAGGACGCCACCAGAGT	0.687													20	105					0	0	1	0	0	A	5540761	G	A	5540761	3	1	241	1	0	0	0	0	1	0	0	0	5714	1087	38	1	1029	1	FBXL18	7	5540761	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4408610	5540761	153597902	214	10190											
HOXA1	3198	broad.mit.edu	37	chr7	27135248	27135248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagccatagcttggaccaCaacttgagtgggagtaggac	11	8	14	8	0	0	2	0	2	0	0	0	5	0	5	2	3	3	2	2	3	3	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:27135248C>T	uc003sye.3	-	0	378	c.284G>A	c.(283-285)tGt>tAt	p.C95Y	HOXA1_uc003syd.3_Missense_Mutation_p.C95Y|HOXA1_uc022aao.1_Missense_Mutation_p.C95Y|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank	NM_005522	NP_005513	P49639	HXA1_HUMAN	Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA.	95						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCTTGGACCACAACTTGAGTG	0.612											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	29	149					0	0	1	0	0	T	27135248	C	T	27135248	3	4	241	1	0	0	0	0	1	0	0	0	7288	478	17	3	731	3	HOXA1	7	27135248	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	21594487	27135248	132003415	215	10191											
GGCT	79017	broad.mit.edu	37	chr7	30538452	30538452	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggatgggggagcactttcGtaatttgtcatcagataact	10	12	13	6	1	2	1	2	0	0	1	3	3	2	3	0	4	2	2	0	4	2	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:30538452G>A	uc003tba.3	-	2	522	c.390C>T	c.(388-390)taC>taT	p.Y130Y	GGCT_uc022abe.1_Intron|GGCT_uc003tbb.3_Intron|GGCT_uc003tbc.3_Non-coding_Transcript|GGCT_uc022abf.1_Intron|GGCT_uc003taz.3_Silent_p.Y69Y	NM_024051	NP_076956	O75223	GGCT_HUMAN	Homo sapiens gamma-glutamylcyclotransferase (GGCT), transcript variant 1, mRNA.	130					release of cytochrome c from mitochondria	cytosol	acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity	p.Y130*(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						GAGCACTTTCGTAATTTGTCA	0.338													63	94					0	0	1	0	0	A	30538452	G	A	30538452	2	1	241	1	0	0	0	0	0	0	0	1	6355	1140	40	1		1	GGCT	7	30538452	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3403204	30538452	128600211	216	10192											
FKBP9	11328	broad.mit.edu	37	chr7	33014804	33014804	+	Frame_Shift_Del	DEL	C	C	-																															taatttctagctggtgtgatCccccccaattcagtgcttca																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:33014804delC	uc011kal.2	+	3	718	c.537delC	c.(535-537)atcfs	p.I179fs	AVL9_uc011kai.2_Intron|FKBP9_uc011kak.1_Non-coding_Transcript|FKBP9_uc003tdh.3_Frame_Shift_Del_p.I126fs|FKBP9_uc010kwm.3_Frame_Shift_Del_p.I33fs	NM_007270	NP_009201	O95302	FKBP9_HUMAN	Homo sapiens FK506 binding protein 9, 63 kDa (FKBP9), mRNA.	126	PPIase FKBP-type 2.				protein folding	endoplasmic reticulum|membrane	FK506 binding|calcium ion binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			CTGGTGTGATCCCCCCCAATT	0.443													33	71	---	---	---	---						-	33014804	C	-	33014804	7	5	241	1	0	1	0	1	0	0	0	0	5915	845	30	0	388	0	FKBP9	7	33014804	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	2476352	33014804	126123859	217	10193											
HECW1	23072	broad.mit.edu	37	chr7	43484733	43484733	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgacacgcaccccagcacCgggagcgagagcgactccag	10	1	14	16	5	0	1	0	0	0	1	1	5	1	2	4	2	3	2	4	2	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:43484733C>T	uc003tid.1	+	10	2567	c.1962C>T	c.(1960-1962)acC>acT	p.T654T	HECW1_uc011kbi.1_Silent_p.T654T	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	654					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			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						ACCCCAGCACCGGGAGCGAGA	0.716													33	47					0	0	1	0	0	T	43484733	C	T	43484733	2	4	241	1	0	0	0	0	0	0	0	1	7042	639	23	2		2	HECW1	7	43484733	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	10469929	43484733	115653930	218	10194											
C7orf42	55069	broad.mit.edu	37	chr7	66415965	66415965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcactgtgttcctgacaCgtacagcaacgccacgctct	9	8	8	16	4	1	1	0	1	1	0	2	1	2	1	3	0	3	5	3	0	2	2	rs143613938	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:66415965C>T	uc003tvk.3	+	4	887	c.623C>T	c.(622-624)aCg>aTg	p.T208M	C7orf42_uc010lah.3_Intron	NM_017994	NP_060464	Q9NWD8	CG042_HUMAN	Homo sapiens chromosome 7 open reading frame 42 (C7orf42), mRNA.	208						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	17						GTTCCTGACACGTACAGCAAC	0.522													60	277					0	0	1	0	0	T	66415965	C	T	66415965	3	4	241	1	0	0	0	0	1	0	0	0	2392	536	19	1	637	1	C7orf42	7	66415965	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	22931232	66415965	92722698	219	10195											
TYW1B	441250	broad.mit.edu	37	chr7	72281140	72281140	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggtaagttttgccaaatcGaaaatcaatggatgcttcct	13	12	8	8	1	1	0	1	0	0	0	3	2	2	1	2	2	2	3	2	2	5	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:72281140G>A	uc011kej.2	-	3	508	c.349C>T	c.(349-351)Cga>Tga	p.R117*	TYW1B_uc011keh.1_Intron|TYW1B_uc011kek.1_Intron	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) (TYW1B), transcript variant 1, mRNA.	117	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										TTGCCAAATCGAAAATCAATG	0.448													100	132					0	0	1	0	0	A	72281140	G	A	72281140	4	1	241	1	0	0	0	0	0	1	0	0	16816	1066	37	2	1823	2	TYW1B	7	72281140	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	5865175	72281140	86857523	220	10196											
FKBP6	8468	broad.mit.edu	37	chr7	72754699	72754699	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagcacctggtggaggcCgccaagcttcctgttctcct	6	9	12	14	1	1	0	0	0	1	0	3	2	2	1	5	3	3	4	5	3	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:72754699C>T	uc003tya.2	+	5	780	c.648C>T	c.(646-648)gcC>gcT	p.A216A	FKBP6_uc003twz.2_Silent_p.A186A|FKBP6_uc011kew.1_Silent_p.A211A|FKBP6_uc010lbe.1_Non-coding_Transcript	NM_003602	NP_003593	O75344	FKBP6_HUMAN	Homo sapiens FK506 binding protein 6, 36kDa (FKBP6), transcript variant 1, mRNA.	216					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				TGGTGGAGGCCGCCAAGCTTC	0.572													24	112					0	0	1	0	0	T	72754699	C	T	72754699	2	4	241	1	0	0	0	0	0	0	0	1	5912	639	23	2		2	FKBP6	7	72754699	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	473559	72754699	86383964	221	10197											
MLXIPL	51085	broad.mit.edu	37	chr7	73013863	73013863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgagctcacctgcagaCggctgtgtccagagaggtgg	7	7	18	9	1	1	3	1	1	0	2	2	4	2	3	2	5	2	3	2	5	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:73013863C>T	uc003tyn.1	-	7	1112	c.1064G>A	c.(1063-1065)cGt>cAt	p.R355H	MLXIPL_uc003tyj.1_5'Flank|MLXIPL_uc003tyk.1_Missense_Mutation_p.R355H|MLXIPL_uc003tym.1_Missense_Mutation_p.R355H|MLXIPL_uc003tyl.1_Missense_Mutation_p.R355H|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Missense_Mutation_p.R262H|MLXIPL_uc003tyq.1_Missense_Mutation_p.R97H	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	355					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				CACCTGCAGACGGCTGTGTCC	0.632													47	90					0	0	1	0	0	T	73013863	C	T	73013863	3	4	241	1	0	0	0	0	1	0	0	0	9637	536	19	1	1534	1	MLXIPL	7	73013863	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	259164	73013863	86124800	222	10198											
PCLO	27445	broad.mit.edu	37	chr7	82584436	82584436	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagcatcccaccatacaaagGctctttttcaaacacttcat	13	12	3	13	0	3	0	2	0	1	0	4	0	4	0	2	1	3	2	2	1	4	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:82584436G>A	uc003uhx.2	-	4	6122	c.5833C>T	c.(5833-5835)Cct>Tct	p.P1945S	PCLO_uc003uhv.2_Missense_Mutation_p.P1945S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1876					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCATACAAAGGCTCTTTTTCA	0.373													13	67					0	0	1	0	0	A	82584436	G	A	82584436	3	1	241	1	0	0	0	0	1	0	0	0	11583	1203	42	3	9696	3	PCLO	7	82584436	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	9570573	82584436	76554227	223	10199											
SEMA3A	10371	broad.mit.edu	37	chr7	83823817	83823817	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggataatttcagccttggcAcattgttcttcccattctga	9	15	7	10	0	3	1	1	1	2	0	4	2	4	2	2	2	1	2	2	2	1	7			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:83823817A>G	uc003uhz.3	-	0	401	c.86T>C	c.(85-87)gTg>gCg	p.V29A		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	29					axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CAGCCTTGGCACATTGTTCTT	0.418													29	210					0	0	1	0	0	G	83823817	A	G	83823817	3	3	241	1	0	0	0	0	1	0	0	0	14024	159	6	3	2297	3	SEMA3A	7	83823817	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	1239381	83823817	75314846	224	10200											
AKAP9	10142	broad.mit.edu	37	chr7	91737807	91737807	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacatatttttaatcctttaGgtacccaggcactccagctg	10	14	6	11	0	0	0	0	0	0	0	2	0	2	0	3	2	3	3	3	2	5	8			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:91737807G>T	uc003ulg.3	+	49	11772	c.11547_splice	c.e49-1	p.R3849_splice	AKAP9_uc003ulf.3_Splice_Site_p.R3841_splice|AKAP9_uc003uli.3_Splice_Site_p.R3472_splice|AKAP9_uc003ulj.3_Splice_Site_p.R1619_splice|AKAP9_uc003ull.3_Splice_Site_p.R745_splice	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	3853					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TAATCCTTTAGGTACCCAGGC	0.423			T	BRAF	papillary thyroid								15	98					1.67942e-08	1.69784e-08	1	1	0	T	91737807	G	T	91737807	5	4	241	1	0	0	0	0	0	0	1	0	459	1014	35	5	11740	5	AKAP9	7	91737807	Splice_Site	SNP	G	TCGA-HT-8564-01A-11D-2395-08	7913990	91737807	67400856	225	10201											
PON1	5444	broad.mit.edu	37	chr7	94931546	94931548	+	In_Frame_Del	DEL	AGA	AGA	-																															aggaggattctctgagtcatAgaagaagattttcatgccat																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:94931546_94931548delAGA	uc003uns.3	-	7	975_977	c.878_880delTCT	c.(877-882)ttctat>tat	p.F293del	PON1_uc011kih.2_In_Frame_Del_p.F293del	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	293					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	TCTGAGTCATAGAAGAAGATTTT	0.399													20	108	---	---	---	---						-	94931548	AGA	-	94931546	7	5	241	1	0	1	0	1	0	0	0	0	12248	420	15	0	195	0	PON1	7	94931546	In_Frame_Del	DEL	AGA	TCGA-HT-8564-01A-11D-2395-08	3193739	94931546	64207117	226	10202											
MCM7	4176	broad.mit.edu	37	chr7	99690987	99690989	+	In_Frame_Del	DEL	TCT	TCT	-																															gcctgatggcttcattcacaTcttctttctccaccacatcc																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:99690987_99690989delTCT	uc003usw.1	-	13	2394_2396	c.1884_1886delAGA	c.(1882-1887)gaagat>gat	p.E628del	MCM7_uc003usv.1_In_Frame_Del_p.E452del|MCM7_uc003usx.1_In_Frame_Del_p.E452del|DD413568_uc022aif.1_5'Flank	NM_005916	NP_005907	P33993	MCM7_HUMAN	Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	628	Interaction with ATRIP.				DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of phosphorylation|response to DNA damage stimulus	MCM complex|chromatin	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	TTCATTCACATCTTCTTTCTCCA	0.527													107	209	---	---	---	---						-	99690989	TCT	-	99690987	7	5	241	1	0	1	0	1	0	0	0	0	9392	1435	50	0	281	0	MCM7	7	99690987	In_Frame_Del	DEL	TCT	TCGA-HT-8564-01A-11D-2395-08	4759441	99690987	59447676	227	10203											
FBXL13	222235	broad.mit.edu	37	chr7	102669158	102669158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcattttttcagccaggaCgacattttcatttgtacgag	9	16	8	8	2	3	0	3	0	0	0	3	3	3	1	1	1	2	2	1	1	1	8	rs147832645	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:102669158C>T	uc003vaq.2	-	3	533	c.106G>A	c.(106-108)Gtc>Atc	p.V36I	FBXL13_uc010lir.1_Missense_Mutation_p.V36I|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Missense_Mutation_p.V36I|FBXL13_uc003vav.2_Intron	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA.	36								p.V36F(2)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TCAGCCAGGACGACATTTTCA	0.343													29	41					0	0	1	0	0	T	102669158	C	T	102669158	3	4	241	1	0	0	0	0	1	0	0	0	5709	536	19	1	2169	1	FBXL13	7	102669158	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2978171	102669158	56469505	228	10204											
TFEC	22797	broad.mit.edu	37	chr7	115590971	115590971	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgccaagctccttgattcGgtaattaatattataccttc	11	15	6	9	1	0	1	0	1	0	0	3	1	1	1	3	1	3	2	3	1	6	8			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:115590971G>A	uc003vhj.2	-	5	725	c.472C>T	c.(472-474)Cga>Tga	p.R158*	TFEC_uc003vhm.2_Nonsense_Mutation_p.R91*|TFEC_uc003vhk.2_Nonsense_Mutation_p.R129*|TFEC_uc003vhl.4_Nonsense_Mutation_p.R129*|TFEC_uc011kmw.2_Nonsense_Mutation_p.R248*	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	158	Helix-loop-helix motif.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TCCTTGATTCGGTAATTAATA	0.299													15	43					0	0	1	0	0	A	115590971	G	A	115590971	4	1	241	1	0	0	0	0	0	1	0	0	15799	1124	39	2	583	2	TFEC	7	115590971	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	12921813	115590971	43547692	229	10205											
CADPS2	93664	broad.mit.edu	37	chr7	121965555	121965555	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaatcttgatgagcgtcttCagctggtaaatatggagttg	11	13	11	6	1	3	2	1	2	2	0	3	3	3	3	0	2	2	3	0	2	4	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:121965555C>G	uc022akp.1	-	27	4115	c.3693G>C	c.(3691-3693)ctG>ctC	p.L1231L	CADPS2_uc003vkg.4_Silent_p.L885L|CADPS2_uc022akq.1_3'UTR|CADPS2_uc010lkq.3_Silent_p.L1190L|CADPS2_uc022akr.1_Silent_p.L1231L	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	1231					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TGAGCGTCTTCAGCTGGTAAA	0.398													8	15					0	0	1	0	0	G	121965555	C	G	121965555	2	3	241	1	0	0	0	0	0	0	0	1	2571	813	29	5		5	CADPS2	7	121965555	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	6374584	121965555	37173108	230	10206											
FLNC	2318	broad.mit.edu	37	chr7	128483620	128483620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctacactgtcaagtacaccGctgtccagcaggtgcgctct	8	9	9	15	2	2	0	1	0	1	0	3	0	3	0	3	1	4	4	3	1	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:128483620G>A	uc003vnz.4	+	17	3009	c.2800G>A	c.(2800-2802)Gct>Act	p.A934T	FLNC_uc003voa.4_Missense_Mutation_p.A934T	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	934					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CAAGTACACCGCTGTCCAGCA	0.612													43	79					0	0	1	0	0	A	128483620	G	A	128483620	3	1	241	1	0	0	0	0	1	0	0	0	5935	1087	38	1	2870	1	FLNC	7	128483620	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	6518065	128483620	30655043	231	10207											
C7orf45	136263	broad.mit.edu	37	chr7	129856218	129856218	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggttggcgcaccattccCgacagaagccttcagtaaca	12	8	9	12	2	1	1	1	0	0	1	2	2	2	1	3	2	2	3	3	2	3	4	rs146470357		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:129856218C>T	uc003vpp.3	+	2	690	c.643C>T	c.(643-645)Cga>Tga	p.R215*		NM_145268	NP_660311	Q8WWF3	CG045_HUMAN	Homo sapiens chromosome 7 open reading frame 45 (C7orf45), mRNA.	215						integral to membrane		p.R215R(2)		endometrium(2)|kidney(1)|lung(6)|ovary(1)	10	Melanoma(18;0.0435)					GCACCATTCCCGACAGAAGCC	0.438													119	192					0	0	1	0	0	T	129856218	C	T	129856218	4	4	241	1	0	0	0	0	0	1	0	0	2395	644	23	2	653	2	C7orf45	7	129856218	Nonsense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1372598	129856218	29282445	232	10208											
SLC13A4	26266	broad.mit.edu	37	chr7	135375977	135375977	+	Frame_Shift_Del	DEL	C	C	-																															cagaagccagagcatagcctCccccaaccagaatgacaatc																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:135375977delC	uc003vtb.3	-	12	2107	c.1418delG	c.(1417-1419)ggafs	p.G473fs	SLC13A4_uc003vta.3_Frame_Shift_Del_p.G472fs|C7orf73_uc003vsz.4_Intron	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 4 (SLC13A4), mRNA.	472						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						AGCATAGCCTCCCCCAACCAG	0.507													36	62	---	---	---	---						-	135375977	C	-	135375977	7	5	241	1	0	1	0	1	0	0	0	0	14394	855	30	0	481	0	SLC13A4	7	135375977	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	5519759	135375977	23762686	233	10209											
MGAM	8972	broad.mit.edu	37	chr7	141724872	141724872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggaactaatttgtatggtgCgcagacattcttcttgtgcc	8	14	10	9	2	2	1	0	0	2	1	2	2	2	2	1	2	3	2	1	2	3	6			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:141724872C>T	uc003vwy.3	+	7	959	c.905C>T	c.(904-906)gCg>gTg	p.A302V		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	302	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTGTATGGTGCGCAGACATTC	0.398													19	44					0	0	1	0	0	T	141724872	C	T	141724872	3	4	241	1	0	0	0	0	1	0	0	0	9541	768	27	1	931	1	MGAM	7	141724872	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	6348895	141724872	17413791	234	10210											
EPHB6	2051	broad.mit.edu	37	chr7	142561447	142561448	+	Frame_Shift_Ins	INS	-	-	G																															gctggctcacctacccaccaINSgggggggtgagtgccactct																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:142561447_142561448insG	uc011kst.2	+	5	946_947	c.159_160insG	c.(157-162)ccagggfs	p.P53fs	EPHB6_uc011ksu.2_Frame_Shift_Ins_p.P53fs|EPHB6_uc003wbs.3_Intron|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_Intron	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	53						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCTACCCACCAGGGGGGGTGAG	0.574													7	165	---	---	---	---						G	142561448	-	G	142561447	7	5	241	1	0	1	1	0	0	0	0	0	5178	175	7	0	165	0	EPHB6	7	142561447	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	836575	142561447	16577216	235	10211											
NOBOX	135935	broad.mit.edu	37	chr7	144096159	144096159	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaagggggaaaggaagatcGgcccttcgcacaggtggggg	10	4	18	9	2	0	1	0	0	0	1	2	3	0	3	2	7	0	1	2	7	3	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:144096159G>A	uc022aoj.1	-	7	1353	c.1353C>T	c.(1351-1353)gcC>gcT	p.A451A		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	451	Pro-rich.				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					AAGGAAGATCGGCCCTTCGCA	0.632													11	25					0	0	1	0	0	A	144096159	G	A	144096159	2	1	241	1	0	0	0	0	0	0	0	1	10512	1103	39	2		2	NOBOX	7	144096159	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1534712	144096159	15042504	236	10212											
CNTNAP2	26047	broad.mit.edu	37	chr7	147600796	147600796	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtactactgtaactgcgaCgcggactacaagcaatggtg	13	8	11	9	3	0	0	0	0	0	0	0	2	0	1	0	2	6	3	0	2	7	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:147600796C>T	uc003weu.2	+	13	2754	c.2238C>T	c.(2236-2238)gaC>gaT	p.D746D		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	746	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.C745C(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GTAACTGCGACGCGGACTACA	0.537										HNSCC(39;0.1)			15	26					0	0	1	0	0	T	147600796	C	T	147600796	2	4	241	1	0	0	0	0	0	0	0	1	3647	535	19	1		1	CNTNAP2	7	147600796	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3504637	147600796	11537867	237	10213											
SLC4A2	6522	broad.mit.edu	37	chr7	150761737	150761737	+	Frame_Shift_Del	DEL	G	G	-																															aggcgcccgggagcctccccGactggagaaaccccgaccat																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:150761737delG	uc022apz.1	+	3	1382	c.342delG	c.(340-342)ccgfs	p.P114fs	SLC4A2_uc003wit.4_Frame_Shift_Del_p.P114fs|SLC4A2_uc011kve.2_Frame_Shift_Del_p.P105fs|SLC4A2_uc003wiu.4_Frame_Shift_Del_p.P100fs	NM_001199692	NP_001186621	P04920	B3A2_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA.	114	Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGCCTCCCCGACTGGAGAAA	0.687													35	61	---	---	---	---						-	150761737	G	-	150761737	7	5	241	1	0	1	0	1	0	0	0	0	14654	1045	37	0	352	0	SLC4A2	7	150761737	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	3160941	150761737	8376926	238	10214											
HTR5A	3361	broad.mit.edu	37	chr7	154862918	154862918	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctggtgcacgagctgtcCgggcgccgctggcagctagg	5	6	17	13	4	0	0	0	0	0	0	1	1	1	0	3	4	4	5	3	4	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:154862918C>T	uc003wlu.1	+	0	373	c.309C>T	c.(307-309)tcC>tcT	p.S103S	LOC100128264_uc003wlt.2_Silent_p.P32P|LOC100128264_uc011kvt.1_Silent_p.P32P	NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	103						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		ACGAGCTGTCCGGGCGCCGCT	0.677													41	58					0	0	1	0	0	T	154862918	C	T	154862918	2	4	241	1	0	0	0	0	0	0	0	1	7450	639	23	2		2	HTR5A	7	154862918	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4101181	154862918	4275745	239	10215											
RBM33	155435	broad.mit.edu	37	chr7	155457901	155457901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagtttgataagcctggcGcggaacggtcgtggagaaga	11	7	15	8	4	0	3	0	1	0	2	1	5	0	4	2	4	2	1	2	4	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:155457901G>A	uc010lqk.1	+	1	444	c.76G>A	c.(76-78)Gcg>Acg	p.A26T	RBM33_uc003wme.3_Missense_Mutation_p.A26T	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	Homo sapiens RNA binding motif protein 33 (RBM33), mRNA.	26							RNA binding|nucleotide binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		TAAGCCTGGCGCGGAACGGTC	0.453													41	59					0	0	1	0	0	A	155457901	G	A	155457901	3	1	241	1	0	0	0	0	1	0	0	0	13130	1087	38	1	82	1	RBM33	7	155457901	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	594983	155457901	3680762	240	10216											
PRSS55	203074	broad.mit.edu	37	chr8	10383214	10383214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggctaggggagcccaccGccctcagccccctcatcccc	6	4	10	21	1	2	0	2	0	0	0	3	1	3	1	7	3	2	1	7	3	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:10383214G>A	uc003wta.3	+	0	159	c.119G>A	c.(118-120)cGc>cAc	p.R40H	AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Missense_Mutation_p.R40H	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.	40					proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						GGAGCCCACCGCCCTCAGCCC	0.662													13	23					0	0	1	0	0	A	10383214	G	A	10383214	3	1	241	1	0	0	0	0	1	0	0	0	12634	1087	38	1	121	1	PRSS55	8	10383214	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08		10383214	135980808	241	10217											
EPB49	2039	broad.mit.edu	37	chr8	21926949	21926949	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgtgggcggacagccggtCgcctggaatcatctctcagg	6	8	16	11	3	3	0	2	0	1	0	5	2	3	2	2	6	1	0	2	6	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:21926949C>T	uc022asw.1	+	4	352	c.314C>T	c.(313-315)tCg>tTg	p.S105L	EPB49_uc022asq.1_Missense_Mutation_p.S105L|EPB49_uc011kys.1_Missense_Mutation_p.S65L|EPB49_uc022asr.1_Missense_Mutation_p.S105L|EPB49_uc022ass.1_Missense_Mutation_p.S80L|EPB49_uc022ast.1_Missense_Mutation_p.S105L|EPB49_uc022asu.1_Missense_Mutation_p.S105L|EPB49_uc022asv.1_Missense_Mutation_p.S105L|EPB49_uc022asx.1_Missense_Mutation_p.S105L|EPB49_uc022asy.1_Missense_Mutation_p.S80L	NM_001978	NP_001969	Q08495	DEMA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.9 (dematin) (EPB49), transcript variant 1, mRNA.	105					actin filament bundle assembly|actin filament capping	actin cytoskeleton|nucleus	actin binding			central_nervous_system(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	10				Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631)		GACAGCCGGTCGCCTGGAATC	0.657													17	38					0	0	1	0	0	T	21926949	C	T	21926949	3	4	241	1	0	0	0	0	1	0	0	0	5159	893	31	2	332	2	EPB49	8	21926949	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	11543735	21926949	124437073	242	10218											
BMP1	649	broad.mit.edu	37	chr8	22037987	22037987	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgcatctctgtcacaccCggggagaaggtacgtgtggg	7	8	16	10	3	2	1	1	0	1	1	3	2	2	1	1	5	1	2	1	5	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:22037987C>T	uc003xbg.3	+	7	1334	c.1068C>T	c.(1066-1068)ccC>ccT	p.P356P	BMP1_uc003xbf.3_Silent_p.P105P|BMP1_uc003xbb.3_Silent_p.P356P|BMP1_uc003xbc.3_Silent_p.P105P|BMP1_uc003xbd.3_Non-coding_Transcript|BMP1_uc003xbe.3_Non-coding_Transcript|BMP1_uc011kzc.2_Silent_p.P105P|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	356	CUB 1.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CTGTCACACCCGGGGAGAAGG	0.612													51	83					0	0	1	0	0	T	22037987	C	T	22037987	2	4	241	1	0	0	0	0	0	0	0	1	1456	639	23	2		2	BMP1	8	22037987	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	111038	22037987	124326035	243	10219											
CLU	1191	broad.mit.edu	37	chr8	27468075	27468076	+	Frame_Shift_Del	DEL	AG	AG	-																															gcagccccacaaacagcagcAgagtcttcatcatgcctcca																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:27468075_27468076delAG	uc003xfy.2	-	1	193_194	c.46_47delCT	c.(46-48)ctgfs	p.L16fs	CLU_uc003xfw.2_Frame_Shift_Del_p.L5fs|CLU_uc003xfx.2_Frame_Shift_Del_p.L5fs|CLU_uc003xfz.2_Frame_Shift_Del_p.L5fs	NM_001831	NP_001822	P10909	CLUS_HUMAN	Homo sapiens clusterin (CLU), transcript variant 1, mRNA.	5					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		AAACAGCAGCAGAGTCTTCATC	0.584													28	41	---	---	---	---						-	27468076	AG	-	27468075	7	5	241	1	0	1	0	1	0	0	0	0	3568	188	7	0	1367	0	CLU	8	27468075	Frame_Shift_Del	DEL	AG	TCGA-HT-8564-01A-11D-2395-08	5430088	27468075	118895947	244	10220											
KIF13B	23303	broad.mit.edu	37	chr8	28989840	28989840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcacctgtcccgaagactaCgtgtctttgcttggatgatt	7	15	9	10	2	2	2	1	1	1	1	3	4	3	3	2	1	2	1	2	1	2	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:28989840C>T	uc003xhh.4	-	22	2986	c.2927G>A	c.(2926-2928)cGt>cAt	p.R976H	AF086219_uc003xhi.1_Intron	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	976					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CCGAAGACTACGTGTCTTTGC	0.388													30	70					0	0	1	0	0	T	28989840	C	T	28989840	3	4	241	1	0	0	0	0	1	0	0	0	8275	536	19	1	2625	1	KIF13B	8	28989840	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1521765	28989840	117374182	245	10221											
HTRA4	203100	broad.mit.edu	37	chr8	38840023	38840023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttcctttccaggaaaggCgttttcaaataagaaatatc	14	13	6	8	1	1	1	1	0	0	1	4	2	3	2	2	2	0	1	2	2	5	6			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:38840023C>T	uc003xmj.3	+	6	1236	c.1121C>T	c.(1120-1122)gCg>gTg	p.A374V		NM_153692	NP_710159	P83105	HTRA4_HUMAN	Homo sapiens HtrA serine peptidase 4 (HTRA4), mRNA.	374					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	p.A374A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CCAGGAAAGGCGTTTTCAAAT	0.428													16	46					0	0	1	0	0	T	38840023	C	T	38840023	3	4	241	1	0	0	0	0	1	0	0	0	7456	768	27	1	1147	1	HTRA4	8	38840023	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	9850183	38840023	107523999	246	10222											
ANK1	286	broad.mit.edu	37	chr8	41554024	41554024	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgctgcgcacgtccgtggCgggatcaccactcgcaggcc	5	5	15	16	6	1	0	1	0	0	0	3	1	2	1	3	4	1	3	3	4	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:41554024C>T	uc003xok.3	-	25	2901	c.2817G>A	c.(2815-2817)ccG>ccA	p.P939P	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Silent_p.P255P|ANK1_uc003xoi.3_Silent_p.P939P|ANK1_uc003xoj.3_Silent_p.P939P|ANK1_uc003xol.3_Silent_p.P939P|ANK1_uc003xom.3_Silent_p.P980P	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	939	ZU5.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACGTCCGTGGCGGGATCACCA	0.677													25	45					0	0	1	0	0	T	41554024	C	T	41554024	2	4	241	1	0	0	0	0	0	0	0	1	620	755	27	1		1	ANK1	8	41554024	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2714001	41554024	104809998	247	10223											
ANK1	286	broad.mit.edu	37	chr8	41577305	41577305	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtcgtctatctctgcgtcGtattgcaacaggagccggac	8	11	11	11	4	2	0	0	0	2	0	5	2	2	2	1	2	4	2	1	2	3	3	rs61758867	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:41577305G>A	uc003xok.3	-	9	1065	c.981C>T	c.(979-981)taC>taT	p.Y327Y	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.3_Silent_p.Y327Y|ANK1_uc003xoj.3_Silent_p.Y327Y|ANK1_uc003xol.3_Silent_p.Y327Y|ANK1_uc003xom.3_Silent_p.Y360Y	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	327	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCTCTGCGTCGTATTGCAACA	0.567													51	103					0	0	1	0	0	A	41577305	G	A	41577305	2	1	241	1	0	0	0	0	0	0	0	1	620	1140	40	1		1	ANK1	8	41577305	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	23281	41577305	104786717	248	10224											
MTFR1	9650	broad.mit.edu	37	chr8	66620197	66620197	+	Frame_Shift_Del	DEL	A	A	-																															tgatagccaagatgaagttgAaaaaggaattccaaagtctg																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:66620197delA	uc011lep.2	+	6	1096	c.884delA	c.(883-885)gaafs	p.E295fs	MTFR1_uc003xvm.2_Frame_Shift_Del_p.E295fs|MTFR1_uc003xvn.2_Frame_Shift_Del_p.E262fs	NM_001145839	NP_001139311	Q15390	MTFR1_HUMAN	Homo sapiens mitochondrial fission regulator 1 (MTFR1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	295						mitochondrion|plasma membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			GATGAAGTTGAAAAAGGAATT	0.443													43	125	---	---	---	---						-	66620197	A	-	66620197	7	5	241	1	0	1	0	1	0	0	0	0	9925	246	9	0	906	0	MTFR1	8	66620197	Frame_Shift_Del	DEL	A	TCGA-HT-8564-01A-11D-2395-08	25042892	66620197	79743825	249	10225											
PI15	51050	broad.mit.edu	37	chr8	75737579	75737579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caattccactgactcatcccCgccaaccaataatttcactg	12	10	3	16	1	2	1	2	1	0	0	4	1	4	1	5	0	1	0	5	0	4	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:75737579C>T	uc003yal.3	+	1	274	c.95C>T	c.(94-96)cCg>cTg	p.P32L	AK024242_uc003yak.1_Intron|PI15_uc003yam.3_Missense_Mutation_p.P32L	NM_015886	NP_056970	O43692	PI15_HUMAN	Homo sapiens peptidase inhibitor 15 (PI15), mRNA.	32						extracellular region	peptidase inhibitor activity	p.P32Q(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GACTCATCCCCGCCAACCAAT	0.478													57	93					0	0	1	0	0	T	75737579	C	T	75737579	3	4	241	1	0	0	0	0	1	0	0	0	11868	652	23	2	97	2	PI15	8	75737579	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	9117382	75737579	70626443	250	10226											
CPNE3	8895	broad.mit.edu	37	chr8	87559941	87559941	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttttctcttatttttagatTacagtagaatgcacattcct	10	19	5	7	0	1	2	0	0	1	2	3	2	2	2	1	0	2	3	1	0	5	9			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:87559941T>C	uc003ydv.2	+	10	984	c.822T>C	c.(820-822)atT>atC	p.I274I	CPNE3_uc003ydw.1_5'UTR	NM_003909	NP_003900	O75131	CPNE3_HUMAN	Homo sapiens copine III (CPNE3), mRNA.	274					lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						ATTTTTAGATTACAGTAGAAT	0.308													7	10					0	0	1	0	0	C	87559941	T	C	87559941	2	2	241	1	0	0	0	0	0	0	0	1	3813	1742	61	3		3	CPNE3	8	87559941	Silent	SNP	T	TCGA-HT-8564-01A-11D-2395-08	11822362	87559941	58804081	251	10227											
RUNX1T1	862	broad.mit.edu	37	chr8	92972726	92972726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggtttcactcgctttaCggccacaattccagcaactc	9	11	7	14	2	1	0	1	0	0	0	4	0	2	0	2	2	4	4	2	2	3	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:92972726C>T	uc022axs.1	-	11	1923	c.1736G>A	c.(1735-1737)cGt>cAt	p.R579H	RUNX1T1_uc003yfc.2_Missense_Mutation_p.R493H|RUNX1T1_uc010mam.3_Missense_Mutation_p.R493H|RUNX1T1_uc003yfe.2_Missense_Mutation_p.R483H|RUNX1T1_uc003yfd.3_Missense_Mutation_p.R520H|RUNX1T1_uc022axo.1_Missense_Mutation_p.R520H|RUNX1T1_uc010mao.3_Missense_Mutation_p.R493H|RUNX1T1_uc011lgi.2_Missense_Mutation_p.R531H|RUNX1T1_uc022axp.1_Missense_Mutation_p.R520H|RUNX1T1_uc022axq.1_Missense_Mutation_p.R520H|RUNX1T1_uc022axr.1_Missense_Mutation_p.R520H|RUNX1T1_uc022axt.1_Missense_Mutation_p.R520H|RUNX1T1_uc022axu.1_Missense_Mutation_p.R500H|RUNX1T1_uc022axv.1_Missense_Mutation_p.R520H|RUNX1T1_uc010man.2_Missense_Mutation_p.R145H|RUNX1T1_uc003yfb.2_Missense_Mutation_p.R483H	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	520					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R483H(2)|p.R520H(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			ACTCGCTTTACGGCCACAATT	0.458													23	39					0	0	1	0	0	T	92972726	C	T	92972726	3	4	241	1	0	0	0	0	1	0	0	0	13747	536	19	1	259	1	RUNX1T1	8	92972726	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5412785	92972726	53391296	252	10228											
VPS13B	157680	broad.mit.edu	37	chr8	100796702	100796702	+	Frame_Shift_Del	DEL	C	C	-																															ggcgctctcacaaatccccaCaggtatttgagaaacaccct																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:100796702delC	uc003yiv.3	+	42	8125	c.8014delC	c.(8014-8016)cagfs	p.Q2672fs	VPS13B_uc003yiw.3_Frame_Shift_Del_p.Q2647fs	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	2672					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAAATCCCCACAGGTATTTGA	0.468													39	69	---	---	---	---						-	100796702	C	-	100796702	7	5	241	1	0	1	0	1	0	0	0	0	17187	479	17	0	8374	0	VPS13B	8	100796702	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	7823976	100796702	45567320	253	10229											
WDR67	93594	broad.mit.edu	37	chr8	124105886	124105886	+	Frame_Shift_Del	DEL	T	T	-																															ctgttttaaagataattccaTttttgcctgggaatgtgaca																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:124105886delT	uc003ypp.2	+	4	665	c.575delT	c.(574-576)attfs	p.I192fs	WDR67_uc011lig.2_Frame_Shift_Del_p.I192fs|WDR67_uc011lih.2_Frame_Shift_Del_p.I82fs|WDR67_uc003ypq.2_Non-coding_Transcript|WDR67_uc003ypo.1_Frame_Shift_Del_p.I192fs|WDR67_uc003ypr.3_Non-coding_Transcript	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	Homo sapiens WD repeat domain 67 (WDR67), transcript variant 1, mRNA.	192						centrosome	Rab GTPase activator activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GATAATTCCATTTTTGCCTGG	0.348													18	42	---	---	---	---						-	124105886	T	-	124105886	7	5	241	1	0	1	0	1	0	0	0	0	17315	1493	52	0	593	0	WDR67	8	124105886	Frame_Shift_Del	DEL	T	TCGA-HT-8564-01A-11D-2395-08	23309184	124105886	22258136	254	10230											
EIF2C2	27161	broad.mit.edu	37	chr8	141595388	141595388	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatatccttggatggggggCggcggcgcaggaggtgcaag	7	6	20	8	3	0	0	0	0	0	0	1	2	1	2	1	8	1	3	1	8	2	2	rs141930048	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:141595388C>T	uc003yvn.3	-	1	86	c.45G>A	c.(43-45)ccG>ccA	p.P15P	EIF2C2_uc010meo.3_Silent_p.P15P|EIF2C2_uc010men.3_Intron	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	15					mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			GGATGGGGGGCGGCGGCGCAG	0.592													30	62					0	0	1	0	0	T	141595388	C	T	141595388	2	4	241	1	0	0	0	0	0	0	0	1	5006	755	27	1		1	EIF2C2	8	141595388	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	17489502	141595388	4768634	255	10231											
GPR20	2843	broad.mit.edu	37	chr8	142367203	142367203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtagaccacgaggctcGtgtggtgtggcatgtcgggc	5	9	18	9	4	0	1	0	0	0	1	2	2	0	1	1	5	0	3	1	5	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:142367203G>A	uc022bby.1	-	0	821	c.821C>T	c.(820-822)aCg>aTg	p.T274M	GPR20_uc003ywf.3_Missense_Mutation_p.T274M	NM_005293	NP_005284	Q99678	GPR20_HUMAN	Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA.	274						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CACGAGGCTCGTGTGGTGTGG	0.637													11	45					0	0	1	0	0	A	142367203	G	A	142367203	3	1	241	1	0	0	0	0	1	0	0	0	6680	1145	40	1	259	1	GPR20	8	142367203	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	771815	142367203	3996819	256	10232											
ARC	23237	broad.mit.edu	37	chr8	143694472	143694472	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggtccggtcactggccacGgactcgctgttgggggcggg	3	8	19	11	4	1	0	1	0	0	0	3	1	2	1	2	7	0	2	2	7	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:143694472G>A	uc022bca.1	-	0	1161	c.1161C>T	c.(1159-1161)tcC>tcT	p.S387S	ARC_uc003ywn.1_Silent_p.S387S	NM_015193	NP_056008	Q7LC44	ARC_HUMAN	Homo sapiens activity-regulated cytoskeleton-associated protein (ARC), mRNA.	387					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				CACTGGCCACGGACTCGCTGT	0.701													11	11					0	0	1	0	0	A	143694472	G	A	143694472	2	1	241	1	0	0	0	0	0	0	0	1	841	1103	39	2		2	ARC	8	143694472	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1327269	143694472	2669550	257	10233											
ZFP41	286128	broad.mit.edu	37	chr8	144332526	144332526	+	Silent	SNP	C	C	T																															cacaccggggagaagccctaCgaatgcacgcactgtgggaa																								rs149671213		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:144332526C>T	uc003yxw.3	+	1	871	c.513C>T	c.(511-513)taC>taT	p.Y171Y	ZFP41_uc003yxv.3_Non-coding_Transcript|ZFP41_uc022bcg.1_Silent_p.Y171Y	NM_173832	NP_776193	Q8N8Y5	ZFP41_HUMAN	Homo sapiens zinc finger protein 41 homolog (mouse) (ZFP41), mRNA.	171					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AGAAGCCCTACGAATGCACGC	0.592													40	114					0	0	1	0	0	T	144332526	C	T	144332526	2	4	241	1	0	0	0	0	0	0	0	1	17646	547	19	1		1	ZFP41	8	144332526	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	638054	144332526	2031496	258	10234	35	2									
ZFP41	286128	broad.mit.edu	37	chr8	144332534	144332534	+	Missense_Mutation	SNP	C	C	T																															ggagaagccctacgaatgcaCgcactgtgggaaagcctttg																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:144332534C>T	uc003yxw.3	+	1	879	c.521C>T	c.(520-522)aCg>aTg	p.T174M	ZFP41_uc003yxv.3_Non-coding_Transcript|ZFP41_uc022bcg.1_Missense_Mutation_p.T174M	NM_173832	NP_776193	Q8N8Y5	ZFP41_HUMAN	Homo sapiens zinc finger protein 41 homolog (mouse) (ZFP41), mRNA.	174					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			TACGAATGCACGCACTGTGGG	0.592													42	112					0	0	1	0	0	T	144332534	C	T	144332534	3	4	241	1	0	0	0	0	1	0	0	0	17646	536	19	1	523	1	ZFP41	8	144332534	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	8	144332534	2031488	259	10235	35	2									
PLEC	5339	broad.mit.edu	37	chr8	144991396	144991396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcgtactggcgcccggagCggcggtcgatgatcatggac	6	8	16	11	6	1	1	1	1	0	0	3	4	1	3	1	5	2	1	1	5	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:144991396C>T	uc003zaf.1	-	31	13174	c.13004G>A	c.(13003-13005)cGc>cAc	p.R4335H	PLEC_uc003zab.1_Missense_Mutation_p.R4198H|PLEC_uc003zac.1_Missense_Mutation_p.R4202H|PLEC_uc003zad.2_Missense_Mutation_p.R4198H|PLEC_uc003zae.1_Missense_Mutation_p.R4166H|PLEC_uc003zag.1_Missense_Mutation_p.R4176H|PLEC_uc003zah.2_Missense_Mutation_p.R4184H|PLEC_uc003zaj.2_Missense_Mutation_p.R4225H	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	4335	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCGCCCGGAGCGGCGGTCGAT	0.637													21	47					0	0	1	0	0	T	144991396	C	T	144991396	3	4	241	1	0	0	0	0	1	0	0	0	12052	768	27	1	1054	1	PLEC	8	144991396	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	658862	144991396	1372626	260	10236											
PLEC	5339	broad.mit.edu	37	chr8	144999421	144999421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacctgtacctgccgcgctCgctccacctcggcctgccgc	3	7	9	22	5	0	0	0	0	0	0	3	0	1	0	8	1	3	3	8	1	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:144999421C>T	uc003zaf.1	-	30	5257	c.5087G>A	c.(5086-5088)cGa>cAa	p.R1696Q	PLEC_uc003zab.1_Missense_Mutation_p.R1559Q|PLEC_uc003zac.1_Missense_Mutation_p.R1563Q|PLEC_uc003zad.2_Missense_Mutation_p.R1559Q|PLEC_uc003zae.1_Missense_Mutation_p.R1527Q|PLEC_uc003zag.1_Missense_Mutation_p.R1537Q|PLEC_uc003zah.2_Missense_Mutation_p.R1545Q|PLEC_uc003zaj.2_Missense_Mutation_p.R1586Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	1696	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGCCGCGCTCGCTCCACCTC	0.741													4	15					0	0	1	0	0	T	144999421	C	T	144999421	3	4	241	1	0	0	0	0	1	0	0	0	12052	884	31	2	8975	2	PLEC	8	144999421	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	8025	144999421	1364601	261	10237											
PARP10	84875	broad.mit.edu	37	chr8	145058234	145058234	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggtccacagggtgtgggcGttgccagggagcactgggag	6	6	21	8	1	0	0	0	0	0	0	1	2	1	2	2	6	2	2	2	6	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:145058234G>A	uc003zal.4	-	6	1827	c.1719C>T	c.(1717-1719)aaC>aaT	p.N573N	PARP10_uc003zak.4_Silent_p.N279N|PARP10_uc011lku.2_Silent_p.N585N|PARP10_uc011lkv.2_Non-coding_Transcript|PARP10_uc003zam.2_Silent_p.N573N	NM_032789	NP_116178	Q53GL7	PAR10_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 10 (PARP10), mRNA.	573						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGTGTGGGCGTTGCCAGGGA	0.662													13	37					0	0	1	0	0	A	145058234	G	A	145058234	2	1	241	1	0	0	0	0	0	0	0	1	11455	1136	40	1		1	PARP10	8	145058234	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	58813	145058234	1305788	262	10238											
FOXD4	2298	broad.mit.edu	37	chr9	117366	117367	+	Frame_Shift_Ins	INS	-	-	G																															agagcgtaagggcgtctcccINSggggccggtgttggggtagg																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:117366_117367insG	uc003zfz.3	-	0	1051_1052	c.753_754insC	c.(751-756)cccgggfs	p.P251fs		NM_207305	NP_997188	Q12950	FOXD4_HUMAN	Homo sapiens forkhead box D4 (FOXD4), mRNA.	251	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGGCGTCTCCCGGGGCCGGTGT	0.728													8	69	---	---	---	---						G	117367	-	G	117366	7	5	241	1	0	1	1	0	0	0	0	0	5999	652	23	0	569	0	FOXD4	9	117366	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08		117366	141096065	263	10239											
KDM4C	23081	broad.mit.edu	37	chr9	6990511	6990511	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcttgtgaagcagcaggcGccaagtgatgaaggtgagat	12	8	14	7	1	1	4	0	4	1	1	1	5	1	4	1	2	2	2	1	2	3	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:6990511G>A	uc003zkh.3	+	11	2353	c.1773G>A	c.(1771-1773)gcG>gcA	p.A591A	KDM4C_uc010mhu.2_Silent_p.A613A|KDM4C_uc011lmi.1_Silent_p.A591A|KDM4C_uc011lmj.1_Non-coding_Transcript|KDM4C_uc003zkg.3_Silent_p.A591A|KDM4C_uc011lmk.2_Intron|KDM4C_uc011lml.2_Silent_p.A278A	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	Homo sapiens lysine (K)-specific demethylase 4C (KDM4C), transcript variant 1, mRNA.	591					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AGCAGCAGGCGCCAAGTGATG	0.408													5	31					0	0	1	0	0	A	6990511	G	A	6990511	2	1	241	1	0	0	0	0	0	0	0	1	8130	1074	38	1		1	KDM4C	9	6990511	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	6873145	6990511	134222920	264	10240											
PTPRD	5789	broad.mit.edu	37	chr9	8636794	8636794	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagatgaaagaggcaactcCgccagagacccctgtctgat	12	6	11	12	1	1	5	0	2	1	3	2	6	2	5	4	1	1	2	4	1	2	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:8636794C>T	uc003zkk.3	-	12	858	c.115G>A	c.(115-117)Gga>Aga	p.G39R	PTPRD_uc003zkp.3_Missense_Mutation_p.G39R|PTPRD_uc003zkq.3_Missense_Mutation_p.G39R|PTPRD_uc003zkr.3_Missense_Mutation_p.G39R|PTPRD_uc003zks.3_Missense_Mutation_p.G39R|PTPRD_uc022bdj.1_Missense_Mutation_p.G39R|PTPRD_uc003zkt.1_Missense_Mutation_p.G39R	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	39	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.G39*(5)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GAGGCAACTCCGCCAGAGACC	0.413										TSP Lung(15;0.13)			50	96					0	0	1	0	0	T	8636794	C	T	8636794	3	4	241	1	0	0	0	0	1	0	0	0	12799	661	23	2	5827	2	PTPRD	9	8636794	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1646283	8636794	132576637	265	10241											
CCIN	881	broad.mit.edu	37	chr9	36170732	36170732	+	Frame_Shift_Del	DEL	C	C	-																															ctggcaggaaagatgagcatCcccatggatggcaccgccgt																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:36170732delC	uc003zzb.4	+	0	1344	c.1233delC	c.(1231-1233)atcfs	p.I411fs		NM_005893	NP_005884	Q13939	CALI_HUMAN	Homo sapiens calicin (CCIN), mRNA.	411					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			AGATGAGCATCCCCATGGATG	0.552													21	141	---	---	---	---						-	36170732	C	-	36170732	7	5	241	1	0	1	0	1	0	0	0	0	2878	845	30	0	1235	0	CCIN	9	36170732	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	27533938	36170732	105042699	266	10242											
TRPM6	140803	broad.mit.edu	37	chr9	77376996	77376996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcgaagggcctgtatctgcGgagaggattgatccaaaagg	12	7	15	7	2	1	2	0	1	1	1	2	5	2	3	2	4	2	1	2	4	4	2	rs141526694	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:77376996G>A	uc004ajl.1	-	25	4829	c.4591C>T	c.(4591-4593)Cgc>Tgc	p.R1531C	TRPM6_uc004ajk.1_Missense_Mutation_p.R1526C|TRPM6_uc022bib.1_Missense_Mutation_p.R1526C|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.R487C	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1531					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTGTATCTGCGGAGAGGATTG	0.423													41	70					0	0	1	0	0	A	77376996	G	A	77376996	3	1	241	1	0	0	0	0	1	0	0	0	16587	1116	39	2	1533	2	TRPM6	9	77376996	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	41206264	77376996	63836435	267	10243											
TRPM6	140803	broad.mit.edu	37	chr9	77390827	77390827	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcaccctcttcttggtcGtgaggagctcgatgacagca	8	10	11	12	3	3	2	1	2	2	0	5	4	3	3	1	2	2	2	1	2	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:77390827G>A	uc004ajl.1	-	23	3613	c.3375C>T	c.(3373-3375)caC>caT	p.H1125H	TRPM6_uc004ajk.1_Silent_p.H1120H|TRPM6_uc022bib.1_Silent_p.H1120H|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Silent_p.H81H	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1125					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTTCTTGGTCGTGAGGAGCTC	0.537													68	108					0	0	1	0	0	A	77390827	G	A	77390827	2	1	241	1	0	0	0	0	0	0	0	1	16587	1136	40	1		1	TRPM6	9	77390827	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	13831	77390827	63822604	268	10244											
KIF27	55582	broad.mit.edu	37	chr9	86465050	86465050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagcaactgcatcttttgttCgtgttccttttgctggaggg	5	17	11	8	1	1	0	0	0	1	0	3	1	2	1	1	2	4	5	1	2	2	7			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:86465050C>T	uc004ana.3	-	15	3664	c.3520G>A	c.(3520-3522)Gaa>Aaa	p.E1174K	KIF27_uc010mpw.3_Missense_Mutation_p.E1108K|KIF27_uc010mpx.3_Missense_Mutation_p.E1077K	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	Homo sapiens kinesin family member 27 (KIF27), mRNA.	1174					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						ATCTTTTGTTCGTGTTCCTTT	0.423													38	161					0	0	1	0	0	T	86465050	C	T	86465050	3	4	241	1	0	0	0	0	1	0	0	0	8296	893	31	2	697	2	KIF27	9	86465050	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	9074223	86465050	54748381	269	10245											
ZCCHC6	79670	broad.mit.edu	37	chr9	88967854	88967854	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggctgtcattcatccaagcGggttgactgtagattgggtt	7	14	13	7	1	2	2	2	1	0	1	3	2	3	2	1	3	1	4	1	3	2	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:88967854G>A	uc004aou.3	-	1	399	c.261C>T	c.(259-261)ccC>ccT	p.P87P	ZCCHC6_uc011ltf.2_Non-coding_Transcript|ZCCHC6_uc004aoq.3_Silent_p.P87P|ZCCHC6_uc004aot.3_Silent_p.P87P|ZCCHC6_uc004aor.3_Non-coding_Transcript|ZCCHC6_uc004aos.3_Non-coding_Transcript|ZCCHC6_uc004aov.3_Silent_p.P87P|ZCCHC6_uc004aow.3_Silent_p.P87P|ZCCHC6_uc010mqf.2_Silent_p.P87P	NM_001185059	NP_078893	Q5VYS8	TUT7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 6 (ZCCHC6), transcript variant 2, mRNA.	87					RNA 3'-end processing		RNA uridylyltransferase activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TCATCCAAGCGGGTTGACTGT	0.433													94	184					0	0	1	0	0	A	88967854	G	A	88967854	2	1	241	1	0	0	0	0	0	0	0	1	17589	1103	39	2		2	ZCCHC6	9	88967854	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2502804	88967854	52245577	270	10246											
SEMA4D	10507	broad.mit.edu	37	chr9	91993634	91993634	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcctcagtctccatctgcGtctgagtcagcgaacttcag	7	10	10	14	3	6	1	3	1	3	0	7	2	6	1	2	1	3	0	2	1	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:91993634G>A	uc004aqo.1	-	17	3146	c.2574C>T	c.(2572-2574)gaC>gaT	p.D858D	SEMA4D_uc011ltm.1_Intron|SEMA4D_uc011ltn.1_Intron|SEMA4D_uc011lto.1_Intron|SEMA4D_uc004aqp.1_Silent_p.D858D	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 1, mRNA.	858					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CTCCATCTGCGTCTGAGTCAG	0.582													30	42					0	0	1	0	0	A	91993634	G	A	91993634	2	1	241	1	0	0	0	0	0	0	0	1	14034	1136	40	1		1	SEMA4D	9	91993634	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3025780	91993634	49219797	271	10247											
FGD3	89846	broad.mit.edu	37	chr9	95738979	95738979	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaggctgacaaggatgcCggcctggcccaggtaggctt	9	6	15	11	1	0	2	0	1	0	1	0	3	0	3	3	6	1	3	3	6	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:95738979C>T	uc004asz.2	+	2	969	c.441C>T	c.(439-441)gcC>gcT	p.A147A	FGD3_uc004asw.2_Silent_p.A147A|FGD3_uc004asx.2_Silent_p.A147A	NM_033086	NP_149077	Q5JSP0	FGD3_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 2, mRNA.	147					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						ACAAGGATGCCGGCCTGGCCC	0.637													13	34					0	0	1	0	0	T	95738979	C	T	95738979	2	4	241	1	0	0	0	0	0	0	0	1	5834	639	23	2		2	FGD3	9	95738979	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3745345	95738979	45474452	272	10248											
PTPN3	5774	broad.mit.edu	37	chr9	112166752	112166752	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactggatcagcaccgtcccGctttcgaggcccttctttag	7	11	9	14	3	2	0	1	0	1	0	4	2	3	1	3	2	2	2	3	2	2	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:112166752G>A	uc004bed.2	-	18	2041	c.1929C>T	c.(1927-1929)agC>agT	p.S643S	PTPN3_uc004beb.2_Silent_p.S512S|PTPN3_uc004bec.2_Silent_p.S467S|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Silent_p.S598S|PTPN3_uc011lwh.1_Silent_p.S489S|PTPN3_uc011lwd.1_Silent_p.S111S|PTPN3_uc011lwe.1_Silent_p.S356S|PTPN3_uc011lwf.1_Silent_p.S311S	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	643					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GCACCGTCCCGCTTTCGAGGC	0.572													48	73					0	0	1	0	0	A	112166752	G	A	112166752	2	1	241	1	0	0	0	0	0	0	0	1	12789	1078	38	1		1	PTPN3	9	112166752	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	16427773	112166752	29046679	273	10249											
C9orf152	401546	broad.mit.edu	37	chr9	112963591	112963591	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaacaatgcatctccaggtgCgtgtgccatggagacttggg	10	9	13	9	1	1	1	0	0	1	1	2	2	1	1	2	3	4	1	2	3	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:112963591C>T	uc011lwk.2	-	1	911	c.357G>A	c.(355-357)acG>acA	p.T119T	C9orf152_uc022blq.1_5'Flank	NM_001012993	NP_001013011	Q5JTZ5	CI152_HUMAN	Homo sapiens chromosome 9 open reading frame 152 (C9orf152), mRNA.	119										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TCTCCAGGTGCGTGTGCCATG	0.587													22	142					0	0	1	0	0	T	112963591	C	T	112963591	2	4	241	1	0	0	0	0	0	0	0	1	2463	755	27	1		1	C9orf152	9	112963591	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	796839	112963591	28249840	274	10250											
RGS3	5998	broad.mit.edu	37	chr9	116246504	116246506	+	In_Frame_Del	DEL	CTT	CTT	-																															gacccggctttccacgagcaCttcttcttgtaagagtctgg																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:116246504_116246506delCTT	uc004bhq.3	+	6	821_823	c.612_614delCTT	c.(610-615)cacttc>cac	p.F207del	RGS3_uc004bhr.3_In_Frame_Del_p.F95del|RGS3_uc004bhs.3_In_Frame_Del_p.F97del	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	207	C2.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCACGAGCACTTCTTCTTGTAA	0.473													38	77	---	---	---	---						-	116246506	CTT	-	116246504	7	5	241	1	0	1	0	1	0	0	0	0	13306	564	20	0	717	0	RGS3	9	116246504	In_Frame_Del	DEL	CTT	TCGA-HT-8564-01A-11D-2395-08	3282913	116246504	24966927	275	10251											
ZNF618	114991	broad.mit.edu	37	chr9	116811427	116811427	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggagatcaggacagtgtaCgtgacggattgccgggtgag	9	8	17	7	4	1	3	1	2	0	1	2	6	1	5	1	4	2	1	1	4	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:116811427C>T	uc004bid.3	+	14	1944	c.1845C>T	c.(1843-1845)taC>taT	p.Y615Y	ZNF618_uc004bic.3_Silent_p.Y522Y|ZNF618_uc011lxi.2_Silent_p.Y582Y|ZNF618_uc011lxj.2_Silent_p.Y583Y|ZNF618_uc010mvb.3_Silent_p.Y205Y	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	615					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GGACAGTGTACGTGACGGATT	0.612													27	195					0	0	1	0	0	T	116811427	C	T	116811427	2	4	241	1	0	0	0	0	0	0	0	1	18039	547	19	1		1	ZNF618	9	116811427	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	564923	116811427	24402004	276	10252											
PAPPA	5069	broad.mit.edu	37	chr9	119097282	119097282	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggggtggccctccgttcCttcgacaactttgaccccgt	4	11	11	15	4	0	1	0	1	0	0	4	2	2	1	5	3	1	1	5	3	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:119097282C>A	uc004bjn.3	+	12	3921	c.3540C>A	c.(3538-3540)tcC>tcA	p.S1180S	PAPPA_uc011lxp.1_Silent_p.S875S|PAPPA_uc011lxq.2_Silent_p.S555S	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1180					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCCTCCGTTCCTTCGACAACT	0.642													62	119					4.46356e-37	4.58439e-37	1	1	0	A	119097282	C	A	119097282	2	1	241	1	0	0	0	0	0	0	0	1	11432	668	24	5		5	PAPPA	9	119097282	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2285855	119097282	22116149	277	10253											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123215886	123215886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgcttgaatctcagcaggtCgccctccgtggccacagtct	7	10	10	14	2	2	1	1	1	2	0	5	1	3	1	3	2	2	2	3	2	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:123215886C>T	uc004bkf.3	-	20	2822	c.2641G>A	c.(2641-2643)Gac>Aac	p.D881N	CDK5RAP2_uc004bke.3_Missense_Mutation_p.D166N|CDK5RAP2_uc004bkg.3_Missense_Mutation_p.D881N|CDK5RAP2_uc011lxw.2_Missense_Mutation_p.D146N|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_Missense_Mutation_p.D146N|CDK5RAP2_uc011lya.2_Missense_Mutation_p.D146N|CDK5RAP2_uc004bkh.1_Intron|CDK5RAP2_uc004bki.3_Missense_Mutation_p.D648N	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	881					G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CTCAGCAGGTCGCCCTCCGTG	0.552													101	158					0	0	1	0	0	T	123215886	C	T	123215886	3	4	241	1	0	0	0	0	1	0	0	0	3146	884	31	2	3112	2	CDK5RAP2	9	123215886	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4118604	123215886	17997545	278	10254											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123253597	123253597	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagtacctgaagcaacacGtccttctgattggtactttc	10	13	7	11	1	1	2	0	2	1	0	3	2	2	2	2	1	5	3	2	1	5	6			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:123253597G>A	uc004bkf.3	-	12	1651	c.1470C>T	c.(1468-1470)gaC>gaT	p.D490D	CDK5RAP2_uc004bkg.3_Silent_p.D490D|CDK5RAP2_uc011lxw.2_5'UTR|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_5'UTR|CDK5RAP2_uc011lya.2_5'UTR|CDK5RAP2_uc004bkh.1_Silent_p.D490D|CDK5RAP2_uc004bki.3_Silent_p.D289D	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	490					G2/M transition of mitotic cell cycle|brain development|centrosome organization|chromosome segregation|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	Golgi apparatus|cytosol|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GAAGCAACACGTCCTTCTGAT	0.294													17	30					0	0	1	0	0	A	123253597	G	A	123253597	2	1	241	1	0	0	0	0	0	0	0	1	3146	1136	40	1		1	CDK5RAP2	9	123253597	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	37711	123253597	17959834	279	10255											
PHF19	26147	broad.mit.edu	37	chr9	123624994	123624996	+	In_Frame_Del	DEL	CTT	CTT	-																															atgcgcaggcggaagatgcaCttcttcttcttgatctcctt																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:123624994_123624996delCTT	uc004bks.1	-	10	1253_1255	c.1000_1002delAAG	c.(1000-1002)aagdel	p.K334del	PHF19_uc011lyf.1_In_Frame_Del_p.K125del|PHF19_uc004bkr.2_Non-coding_Transcript	NM_015651	NP_056466	Q5T6S3	PHF19_HUMAN	Homo sapiens PHD finger protein 19 (PHF19), transcript variant 1, mRNA.	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGAAGATGCACTTCTTCTTCTTG	0.606													64	374	---	---	---	---						-	123624996	CTT	-	123624994	7	5	241	1	0	1	0	1	0	0	0	0	11829	564	20	0	760	0	PHF19	9	123624994	In_Frame_Del	DEL	CTT	TCGA-HT-8564-01A-11D-2395-08	371397	123624994	17588437	280	10256											
OR5C1	392391	broad.mit.edu	37	chr9	125551233	125551233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaactcagagaacctcaccCgggccgcggttgcccctgct	7	7	11	16	3	2	2	2	1	0	1	2	3	2	2	5	2	4	2	5	2	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:125551233C>T	uc011lzd.2	+	0	22	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily C, member 1 (OR5C1), mRNA.	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						GAACCTCACCCGGGCCGCGGT	0.582													30	139					0	0	1	0	0	T	125551233	C	T	125551233	3	4	241	1	0	0	0	0	1	0	0	0	11153	643	23	2	24	2	OR5C1	9	125551233	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1926239	125551233	15662198	281	10257											
CRB2	286204	broad.mit.edu	37	chr9	126128637	126128637	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggagcttccgctgcctctGttggccaggtgtgtgcgtgc	2	11	16	12	3	1	0	0	0	1	0	2	1	2	1	3	3	4	3	3	3	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:126128637G>T	uc004bnx.1	+	3	838	c.746G>T	c.(745-747)tGt>tTt	p.C249F	CRB2_uc004bnw.1_Missense_Mutation_p.C249F	NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	249	EGF-like 5.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CGCTGCCTCTGTTGGCCAGGT	0.736													13	23					4.7546e-09	4.82189e-09	1	1	0	T	126128637	G	T	126128637	3	4	241	1	0	0	0	0	1	0	0	0	3849	1377	48	5	760	5	CRB2	9	126128637	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	577404	126128637	15084794	282	10258											
SH2D3C	10044	broad.mit.edu	37	chr9	130511902	130511902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggctggtgagtgagtcccGgatgaggaagtcgccgttgc	7	8	17	9	3	0	3	0	3	0	0	2	5	1	5	2	4	1	2	2	4	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:130511902G>A	uc004bsc.3	-	4	869	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W	SH2D3C_uc010mxo.3_Missense_Mutation_p.R83W|SH2D3C_uc004bry.3_Missense_Mutation_p.R85W|SH2D3C_uc004brz.4_5'UTR|SH2D3C_uc011mak.2_5'UTR|SH2D3C_uc004bsb.3_Missense_Mutation_p.R175W|SH2D3C_uc004bsa.3_Missense_Mutation_p.R86W	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	243	SH2.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGTGAGTCCCGGATGAGGAAG	0.612													6	15					0	0	1	0	0	A	130511902	G	A	130511902	3	1	241	1	0	0	0	0	1	0	0	0	14234	1115	39	2	1887	2	SH2D3C	9	130511902	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4383265	130511902	10701529	283	10259											
TRUB2	26995	broad.mit.edu	37	chr9	131072049	131072049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagcgtgaagaagccgtcgCgcgtgcgccgcacttgggtg	6	7	16	12	7	0	2	0	1	0	1	1	2	0	2	2	1	3	1	2	1	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:131072049C>T	uc004buq.1	-	7	786	c.776G>A	c.(775-777)cGc>cAc	p.R259H		NM_015679	NP_056494	O95900	TRUB2_HUMAN	Homo sapiens TruB pseudouridine (psi) synthase homolog 2 (E. coli) (TRUB2), mRNA.	259					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						GAAGCCGTCGCGCGTGCGCCG	0.582													27	54					0	0	1	0	0	T	131072049	C	T	131072049	3	4	241	1	0	0	0	0	1	0	0	0	16600	768	27	1	223	1	TRUB2	9	131072049	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	560147	131072049	10141382	284	10260											
SPTAN1	6709	broad.mit.edu	37	chr9	131388869	131388869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctggccgagctggaccGccagatcaagagcttccgcg	8	5	13	15	4	1	2	1	0	0	2	2	4	2	3	5	2	3	3	5	2	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:131388869G>A	uc004bvl.4	+	47	6606	c.6464G>A	c.(6463-6465)cGc>cAc	p.R2155H	SPTAN1_uc004bvm.4_Missense_Mutation_p.R2160H|SPTAN1_uc004bvn.4_Missense_Mutation_p.R2135H|SPTAN1_uc010mye.1_5'UTR|SPTAN1_uc010myf.1_5'UTR	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	2155					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GAGCTGGACCGCCAGATCAAG	0.582													14	62					0	0	1	0	0	A	131388869	G	A	131388869	3	1	241	1	0	0	0	0	1	0	0	0	15116	1087	38	1	6669	1	SPTAN1	9	131388869	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	316820	131388869	9824562	285	10261											
USP20	10868	broad.mit.edu	37	chr9	132631191	132631191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcgcccctgcagccccGtccaccaccacgagggccat	6	5	8	22	3	1	0	0	0	1	0	3	1	2	0	9	1	2	1	9	1	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:132631191G>A	uc004bys.2	+	11	1397	c.1186G>A	c.(1186-1188)Gtc>Atc	p.V396I	USP20_uc004byr.2_Missense_Mutation_p.V396I|USP20_uc004byt.1_Missense_Mutation_p.V396I	NM_001110303	NP_006667	Q9Y2K6	UBP20_HUMAN	Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA.	396					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CTGCAGCCCCGTCCACCACCA	0.672													15	96					0	0	1	0	0	A	132631191	G	A	132631191	3	1	241	1	0	0	0	0	1	0	0	0	17049	1145	40	1	1224	1	USP20	9	132631191	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1242322	132631191	8582240	286	10262											
FIBCD1	84929	broad.mit.edu	37	chr9	133780652	133780652	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatagtcagccacggtgagCgggtacccgtcttcctcagg	8	8	13	12	3	3	1	2	1	1	0	4	2	4	1	3	3	3	1	3	3	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:133780652C>T	uc004bzz.3	-	5	1340	c.1095G>A	c.(1093-1095)ccG>ccA	p.P365P	FIBCD1_uc011mcc.2_Silent_p.P365P	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	Homo sapiens fibrinogen C domain containing 1 (FIBCD1), transcript variant 1, mRNA.	365	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CCACGGTGAGCGGGTACCCGT	0.657													15	46					0	0	1	0	0	T	133780652	C	T	133780652	2	4	241	1	0	0	0	0	0	0	0	1	5884	755	27	1		1	FIBCD1	9	133780652	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1149461	133780652	7432779	287	10263											
BRD3	8019	broad.mit.edu	37	chr9	136910513	136910513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcagcagcaaagccctgtgCgtctgggtactctcggccat	8	9	11	13	2	3	0	1	0	2	0	4	0	3	0	2	2	5	3	2	2	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:136910513C>T	uc004cew.3	-	6	1305	c.1117G>A	c.(1117-1119)Gca>Aca	p.A373T	BRD3_uc004cex.2_Missense_Mutation_p.A373T	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	373	Bromo 2.					nucleus	protein binding	p.A373T(2)	BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		AAGCCCTGTGCGTCTGGGTAC	0.592			T	C15orf55	lethal midline carcinoma of young people								38	230					0	0	1	0	0	T	136910513	C	T	136910513	3	4	241	1	0	0	0	0	1	0	0	0	1503	768	27	1	1087	1	BRD3	9	136910513	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3129861	136910513	4302918	288	10264											
NOTCH1	4851	broad.mit.edu	37	chr9	139401406	139401406	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggggattgcagtcgtccacGttgatctcacagtgcacacc	8	9	12	12	2	1	1	1	1	1	0	4	2	2	2	2	2	2	3	2	2	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:139401406G>A	uc004chz.3	-	22	3663	c.3663C>T	c.(3661-3663)aaC>aaT	p.N1221N	NOTCH1_uc004cia.1_Silent_p.N451N	NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	1221	EGF-like 32; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGTCGTCCACGTTGATCTCAC	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			14	24					0	0	1	0	0	A	139401406	G	A	139401406	2	1	241	1	0	0	0	0	0	0	0	1	10547	1136	40	1		1	NOTCH1	9	139401406	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2490893	139401406	1812025	289	10265											
CLIC3	9022	broad.mit.edu	37	chr9	139889178	139889178	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggccgccaggatctcggcGctgtgcggacacgtgtattt	6	10	14	11	5	1	0	0	0	1	0	2	2	1	2	2	4	1	2	2	4	2	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:139889178G>A	uc004ckj.1	-	5	695	c.666C>T	c.(664-666)agC>agT	p.S222S		NM_004669	NP_004660	O95833	CLIC3_HUMAN	Homo sapiens chloride intracellular channel 3 (CLIC3), mRNA.	222	GST C-terminal.				signal transduction	chloride channel complex|cytoplasm|nucleus	protein binding|voltage-gated chloride channel activity			lung(1)|skin(1)	2	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGATCTCGGCGCTGTGCGGAC	0.677													21	24					0	0	1	0	0	A	139889178	G	A	139889178	2	1	241	1	0	0	0	0	0	0	0	1	3527	1078	38	1		1	CLIC3	9	139889178	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	487772	139889178	1324253	290	10266											
EHMT1	79813	broad.mit.edu	37	chr9	140706066	140706066	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaccgctacgactgtgtcGtgtgagtgcagtgcttcccc	7	10	12	12	3	0	2	0	1	0	1	2	3	1	2	3	0	4	3	3	0	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:140706066G>A	uc011mfc.2	+	19	2904	c.2867_splice	c.e19+1	p.V956_splice		NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA.	956					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CGACTGTGTCGTGTGAGTGCA	0.642													41	50					0	0	1	0	0	A	140706066	G	A	140706066	5	1	241	1	0	0	0	0	0	0	1	0	4983	1159	40	1	2989	1	EHMT1	9	140706066	Splice_Site	SNP	G	TCGA-HT-8564-01A-11D-2395-08	816888	140706066	507365	291	10267											
TAF3	83860	broad.mit.edu	37	chr10	8007427	8007427	+	Frame_Shift_Del	DEL	C	C	-																															ataagatgaaagccccagcaCccccactggtgttgccccca																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:8007427delC	uc010qbd.2	+	2	1954	c.1954delC	c.(1954-1956)cccfs	p.P652fs		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	Homo sapiens TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa (TAF3), mRNA.	652	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AGCCCCAGCACCCCCACTGGT	0.488													61	85	---	---	---	---						-	8007427	C	-	8007427	7	5	241	1	0	1	0	1	0	0	0	0	15522	507	18	0	1964	0	TAF3	10	8007427	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08		8007427	127527320	292	10268											
DHTKD1	55526	broad.mit.edu	37	chr10	12142226	12142226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagctagactgggccaccgCggaagctcttgccttgggtt	7	9	13	12	2	1	1	0	0	1	1	1	2	1	2	3	3	3	3	3	3	3	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:12142226C>T	uc001ild.4	+	8	1820	c.1721C>T	c.(1720-1722)gCg>gTg	p.A574V		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA.	574					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TGGGCCACCGCGGAAGCTCTT	0.423													47	173					0	0	1	0	0	T	12142226	C	T	12142226	3	4	241	1	0	0	0	0	1	0	0	0	4500	768	27	1	1755	1	DHTKD1	10	12142226	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4134799	12142226	123392521	293	10269											
MKX	283078	broad.mit.edu	37	chr10	28023587	28023587	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtatttggggggtgccacGtagtcctcactggcccgtga	5	12	14	10	2	1	1	1	1	0	0	2	1	2	1	3	4	1	2	3	4	2	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:28023587G>A	uc001ity.4	-	4	861	c.636C>T	c.(634-636)taC>taT	p.Y212Y	MKX_uc001itx.4_Silent_p.Y212Y	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA.	212					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GGGGTGCCACGTAGTCCTCAC	0.488													88	59					0	0	1	0	0	A	28023587	G	A	28023587	2	1	241	1	0	0	0	0	0	0	0	1	9610	1140	40	1		1	MKX	10	28023587	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	15881361	28023587	107511160	294	10270											
SVIL	6840	broad.mit.edu	37	chr10	29760116	29760116	+	Frame_Shift_Del	DEL	C	C	-																															ctccccgagtgcaccaccatCcccccctggaaacactgcag																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:29760116delC	uc001iut.1	-	30	6339	c.5586delG	c.(5584-5586)gggfs	p.G1862fs	LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Frame_Shift_Del_p.G776fs|SVIL_uc001iuu.1_Frame_Shift_Del_p.G1436fs	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1862					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GCACCACCATCCCCCCCTGGA	0.527													16	21	---	---	---	---						-	29760116	C	-	29760116	7	5	241	1	0	1	0	1	0	0	0	0	15418	842	30	0	1090	0	SVIL	10	29760116	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	1736529	29760116	105774631	295	10271											
SVIL	6840	broad.mit.edu	37	chr10	29822002	29822004	+	In_Frame_Del	DEL	CTT	CTT	-																															ttcttctccttctccttcccCttcttcttcttctgcttttg																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:29822002_29822004delCTT	uc001iut.1	-	7	2045_2047	c.1292_1294delAAG	c.(1291-1296)gaaggg>ggg	p.E431del	SVIL_uc001iuu.1_Intron|SVIL_uc009xld.1_In_Frame_Del_p.E431del	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	431					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				tctccttccccttcttcttcttc	0.498													12	48	---	---	---	---						-	29822004	CTT	-	29822002	7	5	241	1	0	1	0	1	0	0	0	0	15418	681	24	0	5474	0	SVIL	10	29822002	In_Frame_Del	DEL	CTT	TCGA-HT-8564-01A-11D-2395-08	61886	29822002	105712745	296	10272											
ARHGAP22	58504	broad.mit.edu	37	chr10	49687793	49687793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttggccggcaccttctcccGctccccggcaccacctgcaa	5	7	9	20	3	1	0	0	0	1	0	3	0	2	0	7	3	1	5	7	3	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:49687793G>A	uc001jgu.3	-	3	634	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	ARHGAP22_uc001jgs.3_Missense_Mutation_p.R23W|ARHGAP22_uc001jgt.3_Missense_Mutation_p.R113W|ARHGAP22_uc010qgl.2_Intron|ARHGAP22_uc010qgm.2_Missense_Mutation_p.R119W|ARHGAP22_uc001jgv.3_5'UTR|BC043540_uc001jgw.3_5'Flank	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	113	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACCTTCTCCCGCTCCCCGGCA	0.672													9	20					0	0	1	0	0	A	49687793	G	A	49687793	3	1	241	1	0	0	0	0	1	0	0	0	872	1086	38	1	1787	1	ARHGAP22	10	49687793	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	19865791	49687793	85846954	297	10273											
STOX1	219736	broad.mit.edu	37	chr10	70645798	70645798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgagaatgacgacttacGtcaaatgctgcctggccaca	11	10	9	11	2	2	2	1	2	1	1	2	4	2	2	2	1	3	1	2	1	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:70645798G>A	uc001jos.2	+	2	2333	c.2246G>A	c.(2245-2247)cGt>cAt	p.R749H	STOX1_uc001joq.3_Missense_Mutation_p.R639H|STOX1_uc001jor.3_Intron|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Missense_Mutation_p.R639H	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN	Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.	749						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GACGACTTACGTCAAATGCTG	0.438													28	78					0	0	1	0	0	A	70645798	G	A	70645798	3	1	241	1	0	0	0	0	1	0	0	0	15318	1145	40	1	2256	1	STOX1	10	70645798	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	20958005	70645798	64888949	298	10274											
TSPAN15	23555	broad.mit.edu	37	chr10	71258152	71258152	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgctgcatcaggaacacGgtagacactgctcctgtggg	9	8	12	12	1	1	1	1	0	0	1	2	2	2	2	2	3	4	4	2	3	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:71258152G>A	uc001jpo.1	+	5	695	c.570_splice	c.e5+1	p.T190_splice		NM_012339	NP_036471	O95858	TSN15_HUMAN	Homo sapiens tetraspanin 15 (TSPAN15), mRNA.	190						integral to plasma membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						TCAGGAACACGGTAGACACTG	0.587													29	43					0	0	1	0	0	A	71258152	G	A	71258152	5	1	241	1	0	0	0	0	0	0	1	0	16636	1130	39	2	588	2	TSPAN15	10	71258152	Splice_Site	SNP	G	TCGA-HT-8564-01A-11D-2395-08	612354	71258152	64276595	299	10275											
CDH23	64072	broad.mit.edu	37	chr10	73461953	73461953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgatgcgcaaaatcgtcGtctctgttactgactgtatg	9	13	10	9	3	1	2	0	2	1	0	4	2	1	2	0	0	3	4	0	0	4	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:73461953G>A	uc001jrx.4	+	21	2956	c.2566G>A	c.(2566-2568)Gtc>Atc	p.V856I	CDH23_uc001jry.3_Missense_Mutation_p.V856I|CDH23_uc001jrz.3_Missense_Mutation_p.V856I	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	858	Cadherin 8.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	p.A855G(1)		NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAAAATCGTCGTCTCTGTTAC	0.657													40	178					0	0	1	0	0	A	73461953	G	A	73461953	3	1	241	1	0	0	0	0	1	0	0	0	3108	1145	40	1	2885	1	CDH23	10	73461953	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2203801	73461953	62072794	300	10276											
MYOF	26509	broad.mit.edu	37	chr10	95095762	95095762	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtatctgagaagtctgtcagGccctcaaattctgctacatt	10	13	8	10	0	5	1	2	1	3	1	5	2	5	1	1	1	2	2	1	1	4	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:95095762G>A	uc001kin.3	-	40	4602	c.4479C>T	c.(4477-4479)ggC>ggT	p.G1493G	MYOF_uc001kio.3_Silent_p.G1480G|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1493					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGTCTGTCAGGCCCTCAAATT	0.383													7	148					0	0	1	0	0	A	95095762	G	A	95095762	2	1	241	1	0	0	0	0	0	0	0	1	10089	1190	42	3		3	MYOF	10	95095762	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	21633809	95095762	40438985	301	10277											
CYP2C19	1557	broad.mit.edu	37	chr10	96480238	96480238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggggctggaacagagacaaCgagcaccactctgagatatg	13	6	13	9	1	1	2	0	1	1	2	1	6	1	3	1	3	3	2	1	3	3	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:96480238C>T	uc001kjv.4	+	5	1231	c.905C>T	c.(904-906)aCg>aTg	p.T302M	CYP2C19_uc001kjw.4_Missense_Mutation_p.T243M|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	302					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	ACAGAGACAACGAGCACCACT	0.423													19	78					0	0	1	0	0	T	96480238	C	T	96480238	3	4	241	1	0	0	0	0	1	0	0	0	4166	536	19	1		1	CYP2C19	10	96480238	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1384476	96480238	39054509	302	10278											
DNTT	1791	broad.mit.edu	37	chr10	98064310	98064310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagagaccccggcagaCgggtgccttgatggcctcct	9	6	14	12	2	0	4	0	1	0	3	1	6	1	4	5	3	1	1	5	3	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:98064310C>T	uc001kmf.3	+	0	226	c.56C>T	c.(55-57)aCg>aTg	p.T19M	DNTT_uc001kmg.3_Missense_Mutation_p.T19M	NM_004088	NP_004079	P04053	TDT_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA.	19					DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	p.T19M(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		CCCCGGCAGACGGGTGCCTTG	0.567													21	84					0	0	1	0	0	T	98064310	C	T	98064310	3	4	241	1	0	0	0	0	1	0	0	0	4680	536	19	1	58	1	DNTT	10	98064310	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1584072	98064310	37470437	303	10279											
CRTAC1	55118	broad.mit.edu	37	chr10	99696063	99696063	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagctgcgctcatcgaccgcGatgttcaccagccgcttctg	6	9	11	15	5	3	0	2	0	1	0	4	3	3	0	3	0	3	4	3	0	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:99696063G>A	uc001kou.2	-	2	641	c.285C>T	c.(283-285)atC>atT	p.I95I	CRTAC1_uc001kov.3_Silent_p.I95I|CRTAC1_uc001kot.2_5'UTR	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA.	95						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CATCGACCGCGATGTTCACCA	0.667													31	40					0	0	1	0	0	A	99696063	G	A	99696063	2	1	241	1	0	0	0	0	0	0	0	1	3896	1048	37	2		2	CRTAC1	10	99696063	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1631753	99696063	35838684	304	10280											
GBF1	8729	broad.mit.edu	37	chr10	104141973	104141973	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctccccactgcaggtgggCgtgccacctatgactctgcc	5	8	11	17	1	1	1	0	1	1	0	2	1	2	1	6	2	3	1	6	2	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:104141973C>T	uc001kux.2	+	39	5754	c.5460C>T	c.(5458-5460)ggC>ggT	p.G1820G	GBF1_uc001kuy.2_Silent_p.G1816G|GBF1_uc001kuz.2_Silent_p.G1817G	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	1820	Pro-rich.				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TGCAGGTGGGCGTGCCACCTA	0.682													50	158					0	0	1	0	0	T	104141973	C	T	104141973	2	4	241	1	0	0	0	0	0	0	0	1	6271	755	27	1		1	GBF1	10	104141973	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4445910	104141973	31392774	305	10281											
PDCD11	22984	broad.mit.edu	37	chr10	105184818	105184818	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgcctccttggtagagacGggccacctggcagctttctc	6	11	11	13	1	1	1	0	0	1	1	3	2	2	1	4	3	2	3	4	3	1	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:105184818G>A	uc001kwy.1	+	19	2928	c.2841G>A	c.(2839-2841)acG>acA	p.T947T		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	947					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TGGTAGAGACGGGCCACCTGG	0.547													25	102					0	0	1	0	0	A	105184818	G	A	105184818	2	1	241	1	0	0	0	0	0	0	0	1	11617	1103	39	2		2	PDCD11	10	105184818	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1042845	105184818	30349929	306	10282											
CALHM2	51063	broad.mit.edu	37	chr10	105209166	105209166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggactcatacctgagcctgCggctgacctcctcccggaag	7	7	12	15	2	1	2	1	2	0	0	3	4	3	4	5	3	3	1	5	3	2	1	rs139579411		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:105209166C>T	uc001kxa.3	-	2	1144	c.533G>A	c.(532-534)cGc>cAc	p.R178H	CALHM2_uc001kxc.3_Missense_Mutation_p.R178H|CALHM2_uc001kxb.3_Missense_Mutation_p.R178H|CALHM2_uc001kxd.1_Missense_Mutation_p.R178H	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN	Homo sapiens calcium homeostasis modulator 2 (CALHM2), transcript variant 1, mRNA.	178						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CCTGAGCCTGCGGCTGACCTC	0.592													33	123					0	0	1	0	0	T	105209166	C	T	105209166	3	4	241	1	0	0	0	0	1	0	0	0	2583	768	27	1	446	1	CALHM2	10	105209166	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	24348	105209166	30325581	307	10283											
SLK	9748	broad.mit.edu	37	chr10	105727509	105727511	+	In_Frame_Del	DEL	CTT	CTT	-																															gtgttgggaggaaaaatgtcCttcttcaatttccgtaagat																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:105727509_105727511delCTT	uc001kxo.1	+	0	40_42	c.6_8delCTT	c.(4-9)tccttc>tcc	p.F4del	SLK_uc001kxp.1_In_Frame_Del_p.F4del	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	Homo sapiens STE20-like kinase (SLK), mRNA.	4					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GAAAAATGTCCTTCTTCAATTTC	0.483													41	157	---	---	---	---						-	105727511	CTT	-	105727509	7	5	241	1	0	1	0	1	0	0	0	0	14748	668	24	0	8	0	SLK	10	105727509	In_Frame_Del	DEL	CTT	TCGA-HT-8564-01A-11D-2395-08	518343	105727509	29807238	308	10284											
EIF3A	8661	broad.mit.edu	37	chr10	120796752	120796752	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtcatccctatccctatcGtcccggcgacttgagtctct	5	12	8	16	4	2	1	1	1	1	0	7	2	5	1	3	2	0	0	3	2	2	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:120796752G>A	uc001ldu.3	-	20	3944	c.3798C>T	c.(3796-3798)gaC>gaT	p.D1266D	EIF3A_uc010qsu.2_Silent_p.D1232D	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	1266	Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TATCCCTATCGTCCCGGCGAC	0.547													36	136					0	0	1	0	0	A	120796752	G	A	120796752	2	1	241	1	0	0	0	0	0	0	0	1	5012	1136	40	1		1	EIF3A	10	120796752	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	15069243	120796752	14737995	309	10285											
GPR26	2849	broad.mit.edu	37	chr10	125426287	125426287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggccaagatgcgcctccgcGacgcggcgctcatggtggcc	5	5	16	15	6	1	1	1	0	0	1	2	2	2	1	4	4	1	1	4	4	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:125426287G>A	uc001lhh.3	+	0	417	c.364G>A	c.(364-366)Gac>Aac	p.D122N		NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN	Homo sapiens G protein-coupled receptor 26 (GPR26), mRNA.	122					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GCGCCTCCGCGACGCGGCGCT	0.701													8	16					0	0	1	0	0	A	125426287	G	A	125426287	3	1	241	1	0	0	0	0	1	0	0	0	6684	1058	37	2	366	2	GPR26	10	125426287	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4629535	125426287	10108460	310	10286											
GPR26	2849	broad.mit.edu	37	chr10	125426409	125426409	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcacgctgtgcagccggcgGccagacgagcgcctgcgctt	5	6	15	15	6	0	1	0	0	0	1	0	2	0	1	3	2	5	4	3	2	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:125426409G>A	uc001lhh.3	+	0	539	c.486G>A	c.(484-486)cgG>cgA	p.R162R		NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN	Homo sapiens G protein-coupled receptor 26 (GPR26), mRNA.	162					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GCAGCCGGCGGCCAGACGAGC	0.682													19	20					0	0	1	0	0	A	125426409	G	A	125426409	2	1	241	1	0	0	0	0	0	0	0	1	6684	1190	42	3		3	GPR26	10	125426409	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	122	125426409	10108338	311	10287											
CHST15	51363	broad.mit.edu	37	chr10	125804256	125804256	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaagtgcttcccgtgcgcGtgcgccaggtggccccagaa	6	6	15	14	5	0	1	0	0	0	1	1	2	1	2	4	3	3	1	4	3	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:125804256G>A	uc001lhn.3	-	2	1460	c.726C>T	c.(724-726)caC>caT	p.H242H	CHST15_uc001lhm.3_Silent_p.H242H|CHST15_uc010que.2_Silent_p.H242H|CHST15_uc001lho.3_Silent_p.H242H	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA.	242					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TCCCGTGCGCGTGCGCCAGGT	0.662													15	25					0	0	1	0	0	A	125804256	G	A	125804256	2	1	241	1	0	0	0	0	0	0	0	1	3403	1136	40	1		1	CHST15	10	125804256	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	377847	125804256	9730491	312	10288											
PWWP2B	170394	broad.mit.edu	37	chr10	134218375	134218375	+	Frame_Shift_Del	DEL	C	C	-																															ccctccctacttcgaaggcgCccccttccctcacccgctgt																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:134218375delC	uc001lll.4	+	1	400	c.371delC	c.(370-372)gccfs	p.A124fs	PWWP2B_uc009ybe.3_Frame_Shift_Del_p.A124fs	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA.	124	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		TTCGAAGGCGCCCCCTTCCCT	0.751													11	29	---	---	---	---						-	134218375	C	-	134218375	7	5	241	1	0	1	0	1	0	0	0	0	12846	739	26	0	377	0	PWWP2B	10	134218375	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	8414119	134218375	1316372	313	10289											
TUBGCP2	10844	broad.mit.edu	37	chr10	135101799	135101799	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgccctggtccatgaggaagTagcgcttgatggacctgcgc	7	8	14	12	3	0	2	0	2	0	0	1	4	1	4	3	3	2	2	3	3	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:135101799T>C	uc010qvc.1	-	11	1997	c.1640A>G	c.(1639-1641)tAc>tGc	p.Y547C	TUBGCP2_uc001lmf.1_Missense_Mutation_p.Y112C|TUBGCP2_uc001lmg.1_Missense_Mutation_p.Y519C|TUBGCP2_uc010qvd.1_Missense_Mutation_p.Y389C|TUBGCP2_uc009ybk.1_Missense_Mutation_p.Y519C|TUBGCP2_uc001lmh.1_Non-coding_Transcript	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	Homo sapiens tubulin, gamma complex associated protein 2 (TUBGCP2), mRNA.	519					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CATGAGGAAGTAGCGCTTGAT	0.682													15	53					0	0	1	0	0	C	135101799	T	C	135101799	3	2	241	1	0	0	0	0	1	0	0	0	16763	1638	57	3	1184	3	TUBGCP2	10	135101799	Missense_Mutation	SNP	T	TCGA-HT-8564-01A-11D-2395-08	883424	135101799	432948	314	10290											
TUBGCP2	10844	broad.mit.edu	37	chr10	135103416	135103418	+	In_Frame_Del	DEL	GTT	GTT	-																															cgctggtcccagtacttgtcGttgtaatcctcctggatcct																								rs141945979	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:135103416_135103418delGTT	uc010qvc.1	-	9	1711_1713	c.1354_1356delAAC	c.(1354-1356)aacdel	p.N452del	TUBGCP2_uc001lmf.1_In_Frame_Del_p.N17del|TUBGCP2_uc001lmg.1_In_Frame_Del_p.N424del|TUBGCP2_uc010qvd.1_In_Frame_Del_p.N294del|TUBGCP2_uc009ybk.1_In_Frame_Del_p.N424del|TUBGCP2_uc001lmh.1_Non-coding_Transcript	NM_006659	NP_006650	Q9BSJ2	GCP2_HUMAN	Homo sapiens tubulin, gamma complex associated protein 2 (TUBGCP2), mRNA.	424					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		AGTACTTGTCGTTGTAATCCTCC	0.581													15	74	---	---	---	---						-	135103418	GTT	-	135103416	7	5	241	1	0	1	0	1	0	0	0	0	16763	1136	40	0	1476	0	TUBGCP2	10	135103416	In_Frame_Del	DEL	GTT	TCGA-HT-8564-01A-11D-2395-08	1617	135103416	431331	315	10291											
IFITM1	8519	broad.mit.edu	37	chr11	314210	314210	+	Frame_Shift_Del	DEL	C	C	-																															aggtggctgtgctggggccaCcccccagcaccatccttcca																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:314210delC	uc001loy.4	+	0	220	c.40delC	c.(40-42)cccfs	p.P14fs		NM_003641	NP_003632	P13164	IFM1_HUMAN	Homo sapiens interferon induced transmembrane protein 1 (9-27) (IFITM1), mRNA.	14					negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCTGGGGCCACCCCCCAGCAC	0.562													22	136	---	---	---	---						-	314210	C	-	314210	7	5	241	1	0	1	0	1	0	0	0	0	7526	507	18	0	42	0	IFITM1	11	314210	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08		314210	134692306	316	10292											
DEAF1	10522	broad.mit.edu	37	chr11	654033	654033	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgctcatagcctcccggcCgcagttaacgcaggactgct	7	8	10	16	4	1	0	1	0	0	0	3	1	2	1	3	2	3	5	3	2	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:654033C>T	uc001lqq.1	-	10	2215	c.1522G>A	c.(1522-1524)Ggc>Agc	p.G508S	DEAF1_uc009ycf.1_Non-coding_Transcript|DEAF1_uc021qbn.1_Missense_Mutation_p.G433S	NM_021008	NP_066288	O75398	DEAF1_HUMAN	Homo sapiens deformed epidermal autoregulatory factor 1 (Drosophila) (DEAF1), mRNA.	508					embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GCCTCCCGGCCGCAGTTAACG	0.622													12	53					0	0	1	0	0	T	654033	C	T	654033	3	4	241	1	0	0	0	0	1	0	0	0	4380	652	23	2	183	2	DEAF1	11	654033	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	339823	654033	134352483	317	10293											
MUC2	4583	broad.mit.edu	37	chr11	1080294	1080294	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccaggcaccgtatatgaCgacatcggggacagtggctg	9	7	14	11	3	0	1	0	1	0	0	2	3	1	2	2	4	0	3	2	4	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:1080294C>T	uc001lsx.1	+	7	1041	c.1014C>T	c.(1012-1014)gaC>gaT	p.D338D		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	338	TIL.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCGTATATGACGACATCGGGG	0.647													5	18					0	0	1	0	0	T	1080294	C	T	1080294	2	4	241	1	0	0	0	0	0	0	0	1	9975	535	19	1		1	MUC2	11	1080294	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	426261	1080294	133926222	318	10294											
DUSP8	1850	broad.mit.edu	37	chr11	1578531	1578531	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcagtgcgctggtcgcCgggggcgtggggggcgcggg	1	6	24	10	6	0	0	0	0	0	0	1	0	0	0	1	7	3	3	1	7	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:1578531C>T	uc001lts.2	-	6	1223	c.1095G>A	c.(1093-1095)ccG>ccA	p.P365P	MOB2_uc001ltq.2_Intron	NM_004420	NP_004411	Q13202	DUS8_HUMAN	Homo sapiens dual specificity phosphatase 8 (DUSP8), mRNA.	365	Pro-rich.|Tyrosine-protein phosphatase.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		CGCTGGTcgccgggggcgtgg	0.731													6	4					0	0	1	0	0	T	1578531	C	T	1578531	2	4	241	1	0	0	0	0	0	0	0	1	4831	639	23	2		2	DUSP8	11	1578531	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	498237	1578531	133427985	319	10295											
TRPM5	29850	broad.mit.edu	37	chr11	2428525	2428525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccctgcaccacctggaacGtgtagctgcaggggcacagc	8	6	13	14	1	0	0	0	0	0	0	0	1	0	1	3	3	6	5	3	3	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:2428525G>A	uc010qxl.2	-	19	2951	c.2942C>T	c.(2941-2943)aCg>aTg	p.T981M	TRPM5_uc001lwm.4_Missense_Mutation_p.T981M|TRPM5_uc009ydn.3_Missense_Mutation_p.T983M	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	981						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CACCTGGAACGTGTAGCTGCA	0.642													18	15					0	0	1	0	0	A	2428525	G	A	2428525	3	1	241	1	0	0	0	0	1	0	0	0	16586	1145	40	1	575	1	TRPM5	11	2428525	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	849994	2428525	132577991	320	10296											
OR51G1	79324	broad.mit.edu	37	chr11	4944910	4944910	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggtgcgaaggatgagggcGtatgagagaaagatgagcag	14	5	18	4	3	0	5	0	3	0	2	0	8	0	6	0	3	2	2	0	3	3	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:4944910G>A	uc010qyr.2	-	0	660	c.660C>T	c.(658-660)taC>taT	p.Y220Y		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y220*(2)		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)		GGATGAGGGCGTATGAGAGAA	0.547													26	89					0	0	1	0	0	A	4944910	G	A	4944910	2	1	241	1	0	0	0	0	0	0	0	1	11098	1140	40	1		1	OR51G1	11	4944910	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2516385	4944910	130061606	321	10297											
OR51B4	79339	broad.mit.edu	37	chr11	5322671	5322671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgtgtgcaagagggcaCgggaaccacaatatgggtag	15	6	14	6	1	0	1	0	0	0	1	0	2	0	2	1	3	2	3	1	3	7	2	rs115916434	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:5322671C>T	uc010qza.2	-	0	506	c.506G>A	c.(505-507)cGt>cAt	p.R169H	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S168S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGAGGGCACGGGAACCACA	0.423													52	70					0	0	1	0	0	T	5322671	C	T	5322671	3	4	241	1	0	0	0	0	1	0	0	0	11090	536	19	1	429	1	OR51B4	11	5322671	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	377761	5322671	129683845	322	10298											
ST5	6764	broad.mit.edu	37	chr11	8752647	8752647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggtccttgaggagcacccGggagctggagtggctggggt	5	7	19	10	2	0	1	0	1	0	0	1	4	1	4	3	7	2	3	3	7	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:8752647G>A	uc001mgt.3	-	2	376	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	ST5_uc009yfr.3_Intron|ST5_uc001mgu.3_Intron|ST5_uc001mgv.3_Missense_Mutation_p.R64W|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Missense_Mutation_p.R64W	NM_213618	NP_998783	P78524	ST5_HUMAN	Homo sapiens suppression of tumorigenicity 5 (ST5), transcript variant 3, mRNA.	64	Pro-rich.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		AGGAGCACCCGGGAGCTGGAG	0.612													6	61					0	0	1	0	0	A	8752647	G	A	8752647	3	1	241	1	0	0	0	0	1	0	0	0	15219	1115	39	2	3295	2	ST5	11	8752647	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3429976	8752647	126253869	323	10299											
ZNF143	7702	broad.mit.edu	37	chr11	9522711	9522711	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaatatcagaaaagtgcaCgttaggacacacacaggaga	18	6	9	8	1	2	2	2	0	0	2	2	4	2	3	0	2	1	2	0	2	5	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:9522711C>T	uc001mhr.3	+	10	1160	c.1041C>T	c.(1039-1041)caC>caT	p.H347H	ZNF143_uc009yfu.3_Silent_p.H346H|ZNF143_uc010rby.2_Silent_p.H316H	NM_003442	NP_003433	P52747	ZN143_HUMAN	Homo sapiens zinc finger protein 143 (ZNF143), mRNA.	347					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		GAAAAGTGCACGTTAGGACAC	0.433													55	115					0	0	1	0	0	T	9522711	C	T	9522711	2	4	241	1	0	0	0	0	0	0	0	1	17729	535	19	1		1	ZNF143	11	9522711	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	770064	9522711	125483805	324	10300											
INSC	387755	broad.mit.edu	37	chr11	15197574	15197574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgtctgacctgccatgcccGctccatggtcagcgagtaca	7	8	11	15	3	2	1	1	1	1	0	3	2	3	1	4	1	4	2	4	1	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:15197574G>A	uc001mlz.3	+	2	455	c.344G>A	c.(343-345)cGc>cAc	p.R115H	INSC_uc001mly.3_Missense_Mutation_p.R162H|INSC_uc001mma.3_Missense_Mutation_p.R115H|INSC_uc010rcs.2_Missense_Mutation_p.R115H|INSC_uc001mmb.3_Missense_Mutation_p.R115H|INSC_uc001mmc.3_Missense_Mutation_p.R115H	NM_001042536	NP_001036001	Q1MX18	INSC_HUMAN	Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 2, mRNA.	162					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TGCCATGCCCGCTCCATGGTC	0.622													6	10					0	0	1	0	0	A	15197574	G	A	15197574	3	1	241	1	0	0	0	0	1	0	0	0	7764	1087	38	1	495	1	INSC	11	15197574	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	5674863	15197574	119808942	325	10301											
TSG101	7251	broad.mit.edu	37	chr11	18503252	18503252	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagatagtgtcttcaatagcGttttcttctgcatacagatt	11	16	7	7	1	4	2	1	0	3	2	4	2	4	2	0	0	3	2	0	0	5	8			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:18503252G>A	uc001mor.3	-	8	1148	c.1008C>T	c.(1006-1008)aaC>aaT	p.N336N		NM_006292	NP_006283	Q99816	TS101_HUMAN	Homo sapiens tumor susceptibility gene 101 (TSG101), mRNA.	336	SB.				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	DNA binding|calcium-dependent protein binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CTTCAATAGCGTTTTCTTCTG	0.388													36	58					0	0	1	0	0	A	18503252	G	A	18503252	2	1	241	1	0	0	0	0	0	0	0	1	16613	1136	40	1		1	TSG101	11	18503252	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3305678	18503252	116503264	326	10302											
TMEM86A	144110	broad.mit.edu	37	chr11	18723160	18723160	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccacatgttctacgcctcGgcctttggcatgcagccact	7	10	8	16	2	1	0	0	0	1	0	2	0	1	0	4	2	3	3	4	2	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:18723160G>A	uc001moz.1	+	2	410	c.327G>A	c.(325-327)tcG>tcA	p.S109S		NM_153347	NP_699178	Q8N2M4	TM86A_HUMAN	Homo sapiens transmembrane protein 86A (TMEM86A), mRNA.	109						integral to membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						TCTACGCCTCGGCCTTTGGCA	0.587													92	91					0	0	1	0	0	A	18723160	G	A	18723160	2	1	241	1	0	0	0	0	0	0	0	1	16205	1103	39	2		2	TMEM86A	11	18723160	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	219908	18723160	116283356	327	10303											
QSER1	79832	broad.mit.edu	37	chr11	32997894	32997895	+	Frame_Shift_Ins	INS	-	-	A																															tttagatttcttcggtgcagINSaaaaaaaatgaagatttagg																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:32997894_32997895insA	uc001mty.3	+	12	5349_5350	c.5082_5083insA	c.(5080-5085)cagaaafs	p.Q1694fs	QSER1_uc001mtz.1_Frame_Shift_Ins_p.Q1455fs	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	1694										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CTTCGGTGCAGAAAAAAAATGA	0.292													20	45	---	---	---	---						A	32997895	-	A	32997894	7	5	241	1	0	1	1	0	0	0	0	0	12882	933	33	0	5124	0	QSER1	11	32997894	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	14274734	32997894	102008622	328	10304											
CSTF3	1479	broad.mit.edu	37	chr11	33120307	33120307	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaccttttcatacttcatgcGactctaaggtggtacagaag	12	12	8	9	1	3	1	2	0	1	1	3	2	3	1	1	2	4	1	1	2	5	6			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:33120307G>A	uc001muh.3	-	12	1223	c.1057C>T	c.(1057-1059)Cgc>Tgc	p.R353C	TCP11L1_uc001muf.1_Intron	NM_001326	NP_001317	Q12996	CSTF3_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa (CSTF3), transcript variant 1, mRNA.	353					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						TACTTCATGCGACTCTAAGGT	0.393													28	112					0	0	1	0	0	A	33120307	G	A	33120307	3	1	241	1	0	0	0	0	1	0	0	0	3986	1058	37	2	1132	2	CSTF3	11	33120307	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	122413	33120307	101886209	329	10305											
HIPK3	10114	broad.mit.edu	37	chr11	33308890	33308891	+	Frame_Shift_Ins	INS	-	-	A																															aacaagtggccactgcactgINSaaaaaattgaaaagtcttgg																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:33308890_33308891insA	uc001mul.1	+	1	1200_1201	c.930_931insA	c.(928-933)ctgaaafs	p.L310fs	HIPK3_uc001mum.1_Frame_Shift_Ins_p.L310fs|HIPK3_uc009yjv.1_Frame_Shift_Ins_p.L310fs	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	Homo sapiens homeodomain interacting protein kinase 3 (HIPK3), transcript variant 1, mRNA.	310	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						CCACTGCACTGAAAAAATTGAA	0.391													34	168	---	---	---	---						A	33308891	-	A	33308890	7	5	241	1	0	1	1	0	0	0	0	0	7118	1277	45	0	932	0	HIPK3	11	33308890	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	188583	33308890	101697626	330	10306											
C11orf41	25758	broad.mit.edu	37	chr11	33604946	33604946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgctggcgcccattgccGtggtcacggtcatcatcatc	6	10	11	14	3	4	0	4	0	0	0	5	0	4	0	2	3	2	1	2	3	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:33604946G>A	uc021qfs.1	+	9	3698	c.3574G>A	c.(3574-3576)Gtg>Atg	p.V1192M	C11orf41_uc001mun.1_Missense_Mutation_p.V1198M	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	1192						integral to membrane		p.A1191T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						GCCCATTGCCGTGGTCACGGT	0.547													9	11					0	0	1	0	0	A	33604946	G	A	33604946	3	1	241	1	0	0	0	0	1	0	0	0	1640	1145	40	1	3630	1	C11orf41	11	33604946	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	296056	33604946	101401570	331	10307											
EXT2	2132	broad.mit.edu	37	chr11	44255740	44255740	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgctcatatgaactgtgaaGatattgccatgaacttcctg	12	13	8	8	0	1	4	1	3	0	1	2	4	2	4	2	0	4	1	2	0	5	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:44255740G>C	uc001mya.3	+	11	2037	c.1981G>C	c.(1981-1983)Gat>Cat	p.D661H	EXT2_uc010rfo.2_Missense_Mutation_p.D656H|EXT2_uc009ykt.3_Missense_Mutation_p.D638H|EXT2_uc001mxz.3_Missense_Mutation_p.D628H	NM_000401	NP_000392	Q93063	EXT2_HUMAN	Homo sapiens exostosin 2 (EXT2), transcript variant 1, mRNA.	628					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GAACTGTGAAGATATTGCCAT	0.428			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses				17	41					0	0	1	0	0	C	44255740	G	C	44255740	3	2	241	1	0	0	0	0	1	0	0	0	5324	942	33	5	2124	5	EXT2	11	44255740	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	10650794	44255740	90750776	332	10308											
OR8H1	219469	broad.mit.edu	37	chr11	56058354	56058354	+	Frame_Shift_Del	DEL	A	A	-																															taaatgacaagtgagtaaggAaaaaatacatgggagtgtga																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:56058354delA	uc010rje.2	-	0	185	c.185delT	c.(184-186)ttcfs	p.F62fs		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F61F(1)		NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GTGAGTAAGGAAAAAATACAT	0.403													10	354	---	---	---	---						-	56058354	A	-	56058354	7	5	241	1	0	1	0	1	0	0	0	0	11237	246	9	0	752	0	OR8H1	11	56058354	Frame_Shift_Del	DEL	A	TCGA-HT-8564-01A-11D-2395-08	11802614	56058354	78948162	333	10309											
INCENP	3619	broad.mit.edu	37	chr11	61912746	61912746	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagtttgctcagatcgaCgagaagactgagaaggtggg	13	7	15	6	2	1	5	1	1	0	5	2	8	1	5	0	2	1	2	0	2	3	1	rs141016037		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:61912746C>T	uc001nsw.1	+	12	2023	c.1821C>T	c.(1819-1821)gaC>gaT	p.D607D	INCENP_uc009ynw.1_Silent_p.D607D|INCENP_uc001nsx.1_Silent_p.D603D	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA.	607					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTCAGATCGACGAGAAGACTG	0.577													9	131					0	0	1	0	0	T	61912746	C	T	61912746	2	4	241	1	0	0	0	0	0	0	0	1	7733	535	19	1		1	INCENP	11	61912746	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5854392	61912746	73093770	334	10310											
MTA2	9219	broad.mit.edu	37	chr11	62362913	62362916	+	Frame_Shift_Del	DEL	GAGA	GAGA	-																															gttggcgctggttgtgtaagGagagagactttgagcttcag																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:62362913_62362916delGAGA	uc001ntq.2	-	13	1693_1696	c.1303_1306delTCTC	c.(1303-1308)tctcctfs	p.S435fs	MTA2_uc010rlx.1_Frame_Shift_Del_p.S262fs	NM_004739	NP_004730	O94776	MTA2_HUMAN	Homo sapiens metastasis associated 1 family, member 2 (MTA2), mRNA.	435					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GTTGTGTAAGGAGAGAGACTTTGA	0.51													36	157	---	---	---	---						-	62362916	GAGA	-	62362913	7	5	241	1	0	1	0	1	0	0	0	0	9909	1174	41	0	720	0	MTA2	11	62362913	Frame_Shift_Del	DEL	GAGA	TCGA-HT-8564-01A-11D-2395-08	450167	62362913	72643603	335	10311											
RASGRP2	10235	broad.mit.edu	37	chr11	64506852	64506852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgatggtctcagggctaaCgtggctgtgggtctccttga	5	13	14	9	1	2	2	1	2	2	0	4	2	2	2	1	4	1	2	1	4	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:64506852C>T	uc009ypu.3	-	7	1020	c.793G>A	c.(793-795)Gtt>Att	p.V265I	RASGRP2_uc001oat.3_Missense_Mutation_p.V167I|RASGRP2_uc001oau.3_Missense_Mutation_p.V120I|RASGRP2_uc009ypv.3_Missense_Mutation_p.V265I|RASGRP2_uc009ypw.3_Missense_Mutation_p.V265I	NM_001098671	NP_722541	Q7LDG7	GRP2_HUMAN	Homo sapiens RAS guanyl releasing protein 2 (calcium and DAG-regulated) (RASGRP2), transcript variant 4, mRNA.	265	Ras-GEF.				Ras protein signal transduction|platelet activation|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCAGGGCTAACGTGGCTGTGG	0.642													11	66					0	0	1	0	0	T	64506852	C	T	64506852	3	4	241	1	0	0	0	0	1	0	0	0	13075	536	19	1	1072	1	RASGRP2	11	64506852	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2143939	64506852	70499664	336	10312											
C11orf2	738	broad.mit.edu	37	chr11	64875676	64875676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccctcgtgcagggagggcGgctcaggcgccccggagcag	5	4	17	15	4	1	0	1	0	0	0	3	2	2	2	3	5	2	3	3	5	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:64875676G>A	uc001ocr.1	+	4	773	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	C11orf2_uc001ocs.1_Missense_Mutation_p.G121S	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	Homo sapiens chromosome 11 open reading frame 2 (C11orf2), mRNA.	245					lipid transport|protein transport	Golgi apparatus|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)	15						CAGGGAGGGCGGCTCAGGCGC	0.716													5	17					0	0	1	0	0	A	64875676	G	A	64875676	3	1	241	1	0	0	0	0	1	0	0	0	1633	1116	39	2	751	2	C11orf2	11	64875676	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	368824	64875676	70130840	337	10313											
EFEMP2	30008	broad.mit.edu	37	chr11	65635366	65635366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctgcgagtttccagcaCggatctgaaaggcattgtag	9	9	11	12	2	1	1	0	1	1	0	2	3	2	2	3	2	2	4	3	2	2	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:65635366C>T	uc001ofy.4	-	9	1395	c.1136G>A	c.(1135-1137)cGt>cAt	p.R379H	EFEMP2_uc001ofz.3_Non-coding_Transcript	NM_016938	NP_058634	O95967	FBLN4_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 2 (EFEMP2), transcript variant 1, mRNA.	379					blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GTTTCCAGCACGGATCTGAAA	0.552													40	132					0	0	1	0	0	T	65635366	C	T	65635366	3	4	241	1	0	0	0	0	1	0	0	0	4942	536	19	1	203	1	EFEMP2	11	65635366	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	759690	65635366	69371150	338	10314											
PELI3	246330	broad.mit.edu	37	chr11	66243521	66243521	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagactgcccgctactgggcCcagacaccactgccccacgg	9	4	10	18	2	0	2	0	0	0	2	0	2	0	2	5	2	3	1	5	2	2	1	rs139368303		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:66243521C>A	uc001oic.4	+	7	1457	c.1293C>A	c.(1291-1293)gcC>gcA	p.A431A	PELI3_uc021qlx.1_Silent_p.A407A|PELI3_uc001oid.4_Silent_p.A407A|PELI3_uc021qly.1_Silent_p.A324A	NM_145065	NP_001230065	Q8N2H9	PELI3_HUMAN	Homo sapiens pellino homolog 3 (Drosophila) (PELI3), transcript variant 1, mRNA.	431						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						GCTACTGGGCCCAGACACCAC	0.672													10	18					2.17888e-05	2.18906e-05	1	1	0	A	66243521	C	A	66243521	2	1	241	1	0	0	0	0	0	0	0	1	11723	610	22	5		5	PELI3	11	66243521	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	608155	66243521	68762995	339	10315											
BBS1	582	broad.mit.edu	37	chr11	66297334	66297334	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctatacctgctgcgcctaCgtgctgcccgcgcctacctg	5	9	9	18	4	0	0	0	0	0	0	0	0	0	0	6	0	7	2	6	0	4	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:66297334C>T	uc001oii.1	+	13	1573	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C	BBS1_uc001oil.1_Missense_Mutation_p.R333C|BBS1_uc010rpg.1_Missense_Mutation_p.R365C|BBS1_uc001oij.1_Missense_Mutation_p.R462C|BBS1_uc001oik.1_Missense_Mutation_p.R386C|ZDHHC24_uc009yrg.2_Intron|BBS1_uc010rph.1_Missense_Mutation_p.R130C	NM_024649	NP_078925	Q8NFJ9	BBS1_HUMAN	Homo sapiens Bardet-Biedl syndrome 1 (BBS1), mRNA.	462					nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	BBSome|cilium membrane|cytoplasm	protein binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	28						GCTGCGCCTACGTGCTGCCCG	0.677									Bardet-Biedl syndrome				30	44					0	0	1	0	0	T	66297334	C	T	66297334	3	4	241	1	0	0	0	0	1	0	0	0	1335	536	19	1	1438	1	BBS1	11	66297334	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	53813	66297334	68709182	340	10316											
SPTBN2	6712	broad.mit.edu	37	chr11	66460877	66460877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccgctccctcaggtccGcgatccggggctcatggccc	3	7	13	18	4	2	0	2	0	0	0	5	1	5	0	5	4	1	3	5	4	0	0	rs150801133	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:66460877G>A	uc001ojd.3	-	22	4706	c.4634C>T	c.(4633-4635)gCg>gTg	p.A1545V		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	1545					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCTCAGGTCCGCGATCCGGGG	0.627													9	35					0	0	1	0	0	A	66460877	G	A	66460877	3	1	241	1	0	0	0	0	1	0	0	0	15119	1087	38	1	2598	1	SPTBN2	11	66460877	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	163543	66460877	68545639	341	10317											
RCE1	9986	broad.mit.edu	37	chr11	66612694	66612696	+	In_Frame_Del	DEL	TCT	TCT	-																															ccagagcagcgtggggaacaTcttcttgtctgctggtgagt																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:66612694_66612696delTCT	uc001ojk.1	+	5	721_723	c.677_679delTCT	c.(676-681)atcttc>atc	p.F227del	RCE1_uc001ojl.1_In_Frame_Del_p.F123del	NM_005133	NP_001027450	Q9Y256	FACE2_HUMAN	Homo sapiens RCE1 homolog, prenyl protein protease (S. cerevisiae) (RCE1), transcript variant 1, mRNA.	227					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						GTGGGGAACATCTTCTTGTCTGC	0.527													30	52	---	---	---	---						-	66612696	TCT	-	66612694	7	5	241	1	0	1	0	1	0	0	0	0	13176	1435	50	0	699	0	RCE1	11	66612694	In_Frame_Del	DEL	TCT	TCGA-HT-8564-01A-11D-2395-08	151817	66612694	68393822	342	10318											
KDM2A	22992	broad.mit.edu	37	chr11	67012792	67012792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgattgtgtcaggagccagaCggagacgagtgcgatgtcga	10	7	16	8	5	1	2	1	0	0	2	2	8	1	3	1	2	2	0	1	2	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:67012792C>T	uc001ojw.3	+	13	2560	c.1696C>T	c.(1696-1698)Cgg>Tgg	p.R566W	KDM2A_uc001ojx.3_Non-coding_Transcript|KDM2A_uc001ojy.3_Missense_Mutation_p.R260W|KDM2A_uc010rpn.2_Missense_Mutation_p.R127W|KDM2A_uc001ojz.1_Missense_Mutation_p.R24W	NM_012308	NP_036440	Q9Y2K7	KDM2A_HUMAN	Homo sapiens lysine (K)-specific demethylase 2A (KDM2A), transcript variant 1, mRNA.	566					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						AGGAGCCAGACGGAGACGAGT	0.552													38	86					0	0	1	0	0	T	67012792	C	T	67012792	3	4	241	1	0	0	0	0	1	0	0	0	8124	527	19	1	1746	1	KDM2A	11	67012792	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	400098	67012792	67993724	343	10319											
TBX10	347853	broad.mit.edu	37	chr11	67402373	67402373	+	Frame_Shift_Del	DEL	G	G	-																															cccaggatcttcacctggaaGggggggaacatcctcctgcg																								rs144542807		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:67402373delG	uc001omp.3	-	2	379	c.291delC	c.(289-291)cccfs	p.P97fs		NM_005995	NP_005986	O75333	TBX10_HUMAN	Homo sapiens T-box 10 (TBX10), mRNA.	97					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						TCACCTGGAAGGGGGGGAACA	0.677													43	58	---	---	---	---						-	67402373	G	-	67402373	7	5	241	1	0	1	0	1	0	0	0	0	15648	987	35	0	890	0	TBX10	11	67402373	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	389581	67402373	67604143	344	10320											
SUV420H1	51111	broad.mit.edu	37	chr11	67925272	67925272	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaagaggaataaaatcGtcttcaaagtcatcatcata	17	9	9	6	1	5	1	4	0	1	1	6	4	5	4	0	3	0	0	0	3	6	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:67925272G>A	uc001onm.1	-	10	2797	c.2541C>T	c.(2539-2541)gaC>gaT	p.D847D	SUV420H1_uc009yse.1_Silent_p.D433D|SUV420H1_uc001onn.1_Silent_p.D675D|SUV420H1_uc009ysf.2_Silent_p.D607D	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA.	847					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GAATAAAATCGTCTTCAAAGT	0.403													39	43					0	0	1	0	0	A	67925272	G	A	67925272	2	1	241	1	0	0	0	0	0	0	0	1	15411	1136	40	1		1	SUV420H1	11	67925272	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	522899	67925272	67081244	345	10321											
MRGPRD	116512	broad.mit.edu	37	chr11	68748335	68748335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgctgttgcctgccatccCgcacaggcaggtgaacatgg	8	8	12	13	1	0	1	0	1	0	0	1	1	1	1	3	3	4	4	3	3	1	1	rs144924033		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:68748335C>T	uc010rqf.2	-	0	121	c.121G>A	c.(121-123)Ggg>Agg	p.G41R		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	Homo sapiens MAS-related GPR, member D (MRGPRD), mRNA.	41						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.C40C(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCTGCCATCCCGCACAGGCAG	0.597													53	53					0	0	1	0	0	T	68748335	C	T	68748335	3	4	241	1	0	0	0	0	1	0	0	0	9763	652	23	2	847	2	MRGPRD	11	68748335	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	823063	68748335	66258181	346	10322											
PRCP	5547	broad.mit.edu	37	chr11	82550376	82550376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaggcatttcacctggcccGaataattgtaatatacattc	12	13	6	10	1	2	0	2	0	0	0	3	1	2	0	2	2	1	2	2	2	5	7			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:82550376G>A	uc001ozs.3	-	6	1126	c.1013C>T	c.(1012-1014)tCg>tTg	p.S338L	PRCP_uc001ozr.3_Missense_Mutation_p.S359L	NM_005040	NP_005031	P42785	PCP_HUMAN	Homo sapiens prolylcarboxypeptidase (angiotensinase C) (PRCP), transcript variant 1, mRNA.	338					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CACCTGGCCCGAATAATTGTA	0.403													27	103					0	0	1	0	0	A	82550376	G	A	82550376	3	1	241	1	0	0	0	0	1	0	0	0	12449	1059	37	2	489	2	PRCP	11	82550376	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	13802041	82550376	52456140	347	10323											
PCF11	51585	broad.mit.edu	37	chr11	82877339	82877340	+	Frame_Shift_Del	DEL	AG	AG	-																															aacagaagagtcagaaaaacAggggacaaaaccagggagat																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:82877339_82877340delAG	uc001ozx.4	+	4	1745_1746	c.1400_1401delAG	c.(1399-1401)cagfs	p.Q467fs	PCF11_uc010rsu.1_Frame_Shift_Del_p.Q467fs	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	467					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TCAGAAAAACAGGGGACAAAAC	0.411													11	18	---	---	---	---						-	82877340	AG	-	82877339	7	5	241	1	0	1	0	1	0	0	0	0	11573	188	7	0	1418	0	PCF11	11	82877339	Frame_Shift_Del	DEL	AG	TCGA-HT-8564-01A-11D-2395-08	326963	82877339	52129177	348	10324											
AMOTL1	154810	broad.mit.edu	37	chr11	94554766	94554766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctcccagacctcttccGccagcgggccactgcactct	5	9	8	19	2	2	1	0	0	2	1	5	1	5	1	6	1	2	1	6	1	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:94554766G>A	uc001pfb.3	+	3	1362	c.1192G>A	c.(1192-1194)Gcc>Acc	p.A398T	AMOTL1_uc001pfc.3_Missense_Mutation_p.A348T	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	Homo sapiens angiomotin like 1 (AMOTL1), mRNA.	398						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GACCTCTTCCGCCAGCGGGCC	0.662													18	25					0	0	1	0	0	A	94554766	G	A	94554766	3	1	241	1	0	0	0	0	1	0	0	0	583	1087	38	1	1206	1	AMOTL1	11	94554766	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	11677427	94554766	40451750	349	10325											
AASDHPPT	60496	broad.mit.edu	37	chr11	105967614	105967614	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacagaagaaattccaataCgaaatggtacaaagtcatga	19	8	7	7	1	2	3	2	1	0	2	3	4	3	3	1	1	2	1	1	1	7	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:105967614C>T	uc001pjc.1	+	5	1056	c.910C>T	c.(910-912)Cga>Tga	p.R304*	AASDHPPT_uc010rvn.1_Non-coding_Transcript|AASDHPPT_uc001pjd.1_Nonsense_Mutation_p.R157*|AASDHPPT_uc021qqa.1_5'Flank	NM_015423	NP_056238	Q9NRN7	ADPPT_HUMAN	Homo sapiens aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase (AASDHPPT), mRNA.	304					macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		AATTCCAATACGAAATGGTAC	0.348													9	29					0	0	1	0	0	T	105967614	C	T	105967614	4	4	241	1	0	0	0	0	0	1	0	0	23	528	19	1	932	1	AASDHPPT	11	105967614	Nonsense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	11412848	105967614	29038902	350	10326											
PCSK7	9159	broad.mit.edu	37	chr11	117100140	117100140	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcgttgaagtggacgctgcGcttggcccgccttagcagcc	5	9	14	13	4	0	1	0	1	0	0	1	2	0	2	3	2	3	4	3	2	2	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:117100140G>A	uc001pqr.3	-	2	622	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C		NM_004716	NP_004707	Q16549	PCSK7_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 7 (PCSK7), mRNA.	141		Cleavage; by autolysis (By similarity).			peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		TGGACGCTGCGCTTGGCCCGC	0.617			T	IGH@	MLCLS								48	170					0	0	1	0	0	A	117100140	G	A	117100140	3	1	241	1	0	0	0	0	1	0	0	0	11605	1087	38	1	1996	1	PCSK7	11	117100140	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	11132526	117100140	17906376	351	10327											
ABCG4	64137	broad.mit.edu	37	chr11	119029628	119029628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccaagaccatggctgacGtgccctttcaggtgggcctc	6	9	13	13	1	1	2	1	1	0	1	2	2	1	2	4	4	1	1	4	4	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:119029628G>A	uc001pvs.3	+	11	1762	c.1426G>A	c.(1426-1428)Gtg>Atg	p.V476M	ABCG4_uc009zar.3_Missense_Mutation_p.V476M	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.	476	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CATGGCTGACGTGCCCTTTCA	0.542													47	136					0	0	1	0	0	A	119029628	G	A	119029628	3	1	241	1	0	0	0	0	1	0	0	0	70	1145	40	1	1468	1	ABCG4	11	119029628	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1929488	119029628	15976888	352	10328											
ZNF202	7753	broad.mit.edu	37	chr11	123596990	123596990	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgtgcgtcttccggtgCgccaggtaccgcctgtgttc	3	10	14	14	5	1	0	0	0	1	0	3	0	2	0	4	2	4	3	4	2	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:123596990C>T	uc001pzd.1	-	8	2062	c.1662G>A	c.(1660-1662)gcG>gcA	p.A554A	ZNF202_uc001pzc.1_Silent_p.A330A|ZNF202_uc001pze.1_Silent_p.A554A|ZNF202_uc001pzf.1_Silent_p.A554A	NM_003455	NP_003446	O95125	ZN202_HUMAN	Homo sapiens zinc finger protein 202 (ZNF202), mRNA.	554					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TCTTCCGGTGCGCCAGGTACC	0.577													61	69					0	0	1	0	0	T	123596990	C	T	123596990	2	4	241	1	0	0	0	0	0	0	0	1	17760	755	27	1		1	ZNF202	11	123596990	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4567362	123596990	11409526	353	10329											
OR10G7	390265	broad.mit.edu	37	chr11	123909049	123909049	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atccgcaggatggaacagacGatggacacataggacagcac	15	4	12	10	2	0	1	0	0	0	1	1	6	1	5	1	4	2	2	1	4	2	1	rs12291067	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:123909049G>A	uc001pzq.1	-	0	660	c.660C>T	c.(658-660)atC>atT	p.I220I		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGGAACAGACGATGGACACAT	0.557													31	106					0	0	1	0	0	A	123909049	G	A	123909049	2	1	241	1	0	0	0	0	0	0	0	1	10902	1048	37	2		2	OR10G7	11	123909049	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	312059	123909049	11097467	354	10330											
NINJ2	4815	broad.mit.edu	37	chr12	674455	674455	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaccctgttttatgtgccccGaaggctgtaatgaaaacatt	12	12	8	9	1	0	1	0	1	0	0	0	2	0	1	3	1	3	3	3	1	6	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:674455G>A	uc001qil.3	-	2	604	c.513C>T	c.(511-513)ttC>ttT	p.F171F		NM_016533	NP_057617	Q9NZG7	NINJ2_HUMAN	Homo sapiens ninjurin 2 (NINJ2), mRNA.	125					nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane				large_intestine(3)|lung(1)|ovary(2)	6	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			TATGTGCCCCGAAGGCTGTAA	0.537													9	91					0	0	1	0	0	A	674455	G	A	674455	2	1	241	1	0	0	0	0	0	0	0	1	10419	1049	37	2		2	NINJ2	12	674455	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08		674455	133177440	355	10331											
KCNA1	3736	broad.mit.edu	37	chr12	5021390	5021390	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaaggaaaccagaagggCgagcaggccacctccctggc	12	2	14	13	1	0	1	0	0	0	1	1	4	1	3	4	5	2	1	4	5	3	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:5021390C>T	uc001qnh.3	+	1	1951	c.846C>T	c.(844-846)ggC>ggT	p.G282G	KCNA1_uc021qts.1_Silent_p.G282G	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	282					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACCAGAAGGGCGAGCAGGCCA	0.517													54	94					0	0	1	0	0	T	5021390	C	T	5021390	2	4	241	1	0	0	0	0	0	0	0	1	8001	755	27	1		1	KCNA1	12	5021390	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4346935	5021390	128830505	356	10332											
CLSTN3	9746	broad.mit.edu	37	chr12	7310123	7310123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcatcattgtggtgtgcGtgggcttcctggtgctcatg	3	14	13	11	1	3	0	3	0	0	0	4	0	4	0	2	3	2	2	2	3	0	2	rs138735435		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:7310123G>A	uc001qss.3	+	15	3140	c.2602G>A	c.(2602-2604)Gtg>Atg	p.V868M	CLSTN3_uc001qsr.3_Missense_Mutation_p.V856M|CLSTN3_uc001qst.3_Missense_Mutation_p.V264M	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	856					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding	p.V856M(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TGTGGTGTGCGTGGGCTTCCT	0.667													32	43					0	0	1	0	0	A	7310123	G	A	7310123	3	1	241	1	0	0	0	0	1	0	0	0	3563	1145	40	1	2632	1	CLSTN3	12	7310123	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2288733	7310123	126541772	357	10333											
KLRC2	3822	broad.mit.edu	37	chr12	10584712	10584712	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaagaacttacttatgttTgaaagccaaaccatttattg	16	13	5	7	0	0	2	0	1	0	1	0	2	0	2	2	0	4	1	2	0	8	6			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:10584712T>C	uc001qyk.2	-	4	584	c.577A>G	c.(577-579)Aaa>Gaa	p.K193E	KLRC2_uc001qyh.3_Intron|KLRC2_uc010she.1_Missense_Mutation_p.K193E	NM_002260	NP_002251	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 2 (KLRC2), mRNA.	193	C-type lectin.				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						TACTTATGTTTGAAAGCCAAA	0.313													12	51					0	0	1	0	0	C	10584712	T	C	10584712	3	2	241	1	0	0	0	0	1	0	0	0	8416	1821	63	3	126	3	KLRC2	12	10584712	Missense_Mutation	SNP	T	TCGA-HT-8564-01A-11D-2395-08	3274589	10584712	123267183	358	10334											
LRP6	4040	broad.mit.edu	37	chr12	12302045	12302045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaggtcatagggttgtatttCcaggttctgactcggaactg	8	13	13	7	1	2	1	1	1	1	0	4	3	3	2	1	4	1	3	1	4	3	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:12302045C>T	uc001rah.4	-	13	3179	c.3037G>A	c.(3037-3039)Gaa>Aaa	p.E1013K	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.E1013K	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	1013	Beta-propeller 4.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGTTGTATTTCCAGGTTCTGA	0.438													147	216					0	0	1	0	0	T	12302045	C	T	12302045	3	4	241	1	0	0	0	0	1	0	0	0	8962	864	30	3	1844	3	LRP6	12	12302045	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1717333	12302045	121549850	359	10335											
CACNB3	784	broad.mit.edu	37	chr12	49221502	49221504	+	In_Frame_Del	DEL	GGA	GGA	-																															cagcgtagctcccgccacctGgaggaggactatgcagatgc																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:49221502_49221504delGGA	uc001rsl.2	+	12	1734_1736	c.1275_1277delGGA	c.(1273-1278)ctggag>ctg	p.E427del	CACNB3_uc010sly.2_In_Frame_Del_p.E414del|CACNB3_uc010slz.2_In_Frame_Del_p.E426del|CACNB3_uc001rsk.2_In_Frame_Del_p.E274del|CACNB3_uc021qxm.1_In_Frame_Del_p.E386del	NM_000725	NP_000716	P54284	CACB3_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 3 subunit (CACNB3), transcript variant 1, mRNA.	427					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	CCCGCCACCTGGAGGAGGACTAT	0.631													33	148	---	---	---	---						-	49221504	GGA	-	49221502	7	5	241	1	0	1	0	1	0	0	0	0	2554	1335	47	0	1325	0	CACNB3	12	49221502	In_Frame_Del	DEL	GGA	TCGA-HT-8564-01A-11D-2395-08	36919457	49221502	84630393	360	10336											
DDN	23109	broad.mit.edu	37	chr12	49392947	49392947	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgactataatgacaggAaatagtcttcacttctatca	13	11	8	9	2	4	1	2	1	2	0	4	3	4	2	0	2	0	0	0	2	5	6			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:49392947A>G	uc001rsv.1	-	0	142	c.124T>C	c.(124-126)Tcc>Ccc	p.S42P		NM_015086	NP_055901	O94850	DEND_HUMAN	Homo sapiens dendrin (DDN), mRNA.	42						dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						TAATGACAGGAAATAGTCTTC	0.607													27	44					0	0	1	0	0	G	49392947	A	G	49392947	3	3	241	1	0	0	0	0	1	0	0	0	4333	246	9	3	2019	3	DDN	12	49392947	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	171445	49392947	84458948	361	10337											
MLL2	8085	broad.mit.edu	37	chr12	49422916	49422916	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgctcccaccggcctgAgcccagatgagggaaacgag	9	6	12	14	2	1	3	0	2	1	1	2	5	2	4	4	2	3	1	4	2	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:49422916A>G	uc001rta.4	-	43	14179	c.14179T>C	c.(14179-14181)Tca>Cca	p.S4727P		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	4727					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CACCGGCCTGAGCCCAGATGA	0.617			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			12	59					0	0	1	0	0	G	49422916	A	G	49422916	3	3	241	1	0	0	0	0	1	0	0	0	9621	304	11	4	2478	4	MLL2	12	49422916	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	29969	49422916	84428979	362	10338											
MLL2	8085	broad.mit.edu	37	chr12	49445202	49445202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataggtgtggctcctcaggcCggggggacaggtgcggctcc	5	7	18	11	2	1	0	1	0	0	0	3	1	3	1	3	8	1	2	3	8	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:49445202C>T	uc001rta.4	-	9	2264	c.2264G>A	c.(2263-2265)cGg>cAg	p.R755Q		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	755	Pro-rich.			Missing (in Ref. 1; AAC51734).	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CTCCTCAGGCCGGGGGGACAG	0.687			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			42	73					0	0	1	0	0	T	49445202	C	T	49445202	3	4	241	1	0	0	0	0	1	0	0	0	9621	652	23	2	14529	2	MLL2	12	49445202	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	22286	49445202	84406693	363	10339											
MLL2	8085	broad.mit.edu	37	chr12	49445921	49445921	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagacaagggcgactcctcCagtggagaaaaaggtgatga	14	5	15	7	1	0	4	0	2	0	2	2	7	2	4	2	4	0	0	2	4	3	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:49445921C>T	uc001rta.4	-	9	1545	c.1545G>A	c.(1543-1545)ctG>ctA	p.L515L		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	515	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GCGACTCCTCCAGTGGAGAAA	0.617			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			38	67					0	0	1	0	0	T	49445921	C	T	49445921	2	4	241	1	0	0	0	0	0	0	0	1	9621	581	21	3		3	MLL2	12	49445921	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	719	49445921	84405974	364	10340											
KRT83	3889	broad.mit.edu	37	chr12	52713013	52713013	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcccactgtcagcctccaCgcactcggcctcccgccgca	5	6	7	23	4	1	0	1	0	0	0	5	0	4	0	7	1	1	2	7	1	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:52713013C>T	uc001saf.2	-	1	583	c.520G>A	c.(520-522)Gtg>Atg	p.V174M		NM_002282	NP_002273	P78385	KRT83_HUMAN	Homo sapiens keratin 83 (KRT83), mRNA.	174	Coil 1B.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCAGCCTCCACGCACTCGGCC	0.612													81	169					0	0	1	0	0	T	52713013	C	T	52713013	3	4	241	1	0	0	0	0	1	0	0	0	8497	536	19	1	993	1	KRT83	12	52713013	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3267092	52713013	81138882	365	10341											
ITGA7	3679	broad.mit.edu	37	chr12	56094110	56094110	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccttctctccccccgcctcGtagggaccgtcgtccaggtg	3	10	10	18	4	1	0	0	0	1	0	7	1	4	1	7	2	0	1	7	2	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:56094110G>A	uc001shh.3	-	4	958	c.738C>T	c.(736-738)taC>taT	p.Y246Y	ITGA7_uc001shg.3_Intron|ITGA7_uc010sps.2_Silent_p.Y149Y|ITGA7_uc009znx.3_Intron	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	246					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCCCCGCCTCGTAGGGACCGT	0.662													24	54					0	0	1	0	0	A	56094110	G	A	56094110	2	1	241	1	0	0	0	0	0	0	0	1	7881	1140	40	1		1	ITGA7	12	56094110	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3381097	56094110	77757785	366	10342											
SMARCC2	6601	broad.mit.edu	37	chr12	56568511	56568511	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atactcttgggggttcagtcGgtaagtgtcaatcataaagt	11	13	11	6	1	4	0	3	0	1	0	5	0	4	0	0	3	1	2	0	3	5	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:56568511G>A	uc001skb.3	-	15	1526	c.1420C>T	c.(1420-1422)Cga>Tga	p.R474*	SMARCC2_uc001skd.3_Nonsense_Mutation_p.R474*|SMARCC2_uc001ska.3_Nonsense_Mutation_p.R474*|SMARCC2_uc001skc.3_Nonsense_Mutation_p.R474*|SMARCC2_uc010sqf.2_Nonsense_Mutation_p.R363*	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	474	SWIRM.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGGTTCAGTCGGTAAGTGTCA	0.468													30	166					0	0	1	0	0	A	56568511	G	A	56568511	4	1	241	1	0	0	0	0	0	1	0	0	14776	1124	39	2	2373	2	SMARCC2	12	56568511	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	474401	56568511	77283384	367	10343											
TIMELESS	8914	broad.mit.edu	37	chr12	56815752	56815752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatgatctgcttgcgtgttCgaggaacagtattcaggtgg	8	12	15	6	2	2	1	1	1	1	0	3	4	2	3	0	4	3	3	0	4	2	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:56815752C>T	uc001slf.2	-	20	2741	c.2573G>A	c.(2572-2574)cGa>cAa	p.R858Q		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	858					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CTTGCGTGTTCGAGGAACAGT	0.547													91	110					0	0	1	0	0	T	56815752	C	T	56815752	3	4	241	1	0	0	0	0	1	0	0	0	15901	884	31	2	1089	2	TIMELESS	12	56815752	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	247241	56815752	77036143	368	10344											
MARCH9	92979	broad.mit.edu	37	chr12	58152527	58152527	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccccacctctggggccacGagccgccccccagctgccca	5	3	11	22	2	1	0	0	0	1	0	1	1	1	0	9	3	3	1	9	3	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:58152527G>A	uc001spx.2	+	3	1319	c.888G>A	c.(886-888)acG>acA	p.T296T	MARCH9_uc001spy.3_Silent_p.T183T	NM_138396	NP_612405	Q86YJ5	MARH9_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 9 (MARCH9), mRNA.	296						Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CTGGGGCCACGAGCCGCCCCC	0.652													10	26					0	0	1	0	0	A	58152527	G	A	58152527	2	1	241	1	0	0	0	0	0	0	0	1	9308	1045	37	2		2	MARCH9	12	58152527	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1336775	58152527	75699368	369	10345											
USP15	9958	broad.mit.edu	37	chr12	62715345	62715345	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacacatttgaaccactgaaTaaaccagacagcaccattca	18	7	4	12	0	1	3	1	2	0	1	1	3	1	3	3	0	4	1	3	0	5	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:62715345T>C	uc001src.2	+	4	651	c.576T>C	c.(574-576)aaT>aaC	p.N192N	USP15_uc001srb.2_Silent_p.N192N|USP15_uc001sra.3_Silent_p.N192N	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	192					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AACCACTGAATAAACCAGACA	0.333													24	33					0	0	1	0	0	C	62715345	T	C	62715345	2	2	241	1	0	0	0	0	0	0	0	1	17043	1403	49	3		3	USP15	12	62715345	Silent	SNP	T	TCGA-HT-8564-01A-11D-2395-08	4562818	62715345	71136550	370	10346											
XPOT	11260	broad.mit.edu	37	chr12	64811871	64811871	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacagctaattagggagacGctcatatcatggctgcaagc	13	8	10	10	1	2	1	2	0	0	1	2	2	2	1	0	2	4	4	0	2	5	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:64811871G>A	uc001ssb.3	+	4	752	c.246G>A	c.(244-246)acG>acA	p.T82T	XPOT_uc009zqm.2_Intron	NM_007235	NP_009166	O43592	XPOT_HUMAN	Homo sapiens exportin, tRNA (nuclear export receptor for tRNAs) (XPOT), mRNA.	82	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TTAGGGAGACGCTCATATCAT	0.323													32	71					0	0	1	0	0	A	64811871	G	A	64811871	2	1	241	1	0	0	0	0	0	0	0	1	17447	1074	38	1		1	XPOT	12	64811871	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2096526	64811871	69040024	371	10347											
LEMD3	23592	broad.mit.edu	37	chr12	65637238	65637238	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaagattcggaatatgttTgatcccgttatgtaagtatt	12	16	8	5	2	0	2	0	1	0	1	2	3	1	3	1	1	0	4	1	1	7	8			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:65637238T>C	uc001ssl.2	+	9	2402	c.2376T>C	c.(2374-2376)ttT>ttC	p.F792F	LEMD3_uc009zqo.2_Silent_p.F791F	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.	792	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of BMP signaling pathway|negative regulation of activin receptor signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GGAATATGTTTGATCCCGTTA	0.318													41	62					0	0	1	0	0	C	65637238	T	C	65637238	2	2	241	1	0	0	0	0	0	0	0	1	8721	1809	63	3		3	LEMD3	12	65637238	Silent	SNP	T	TCGA-HT-8564-01A-11D-2395-08	825367	65637238	68214657	372	10348											
BEST3	144453	broad.mit.edu	37	chr12	70048984	70048984	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaatatattttcctcagcGctggctgaaactgtctgggg	8	14	11	8	1	2	2	1	2	1	0	3	2	3	2	1	3	2	2	1	3	4	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:70048984G>A	uc001svg.3	-	9	1937	c.1710C>T	c.(1708-1710)agC>agT	p.S570S	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Silent_p.S357S|BEST3_uc010stm.2_Silent_p.S464S	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	570						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TTTCCTCAGCGCTGGCTGAAA	0.557													22	77					0	0	1	0	0	A	70048984	G	A	70048984	2	1	241	1	0	0	0	0	0	0	0	1	1406	1078	38	1		1	BEST3	12	70048984	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4411746	70048984	63802911	373	10349											
C12orf12	196477	broad.mit.edu	37	chr12	91348005	91348005	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccactcatacagcttgaccGgccgcggcagcgtgctcaca	8	7	10	16	4	2	1	2	1	0	0	3	1	3	1	3	2	4	3	3	2	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:91348005G>A	uc001tbj.3	-	0	949	c.515C>T	c.(514-516)cCg>cTg	p.P172L		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	172										NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						CAGCTTGACCGGCCGCGGCAG	0.667													37	79					0	0	1	0	0	A	91348005	G	A	91348005	3	1	241	1	0	0	0	0	1	0	0	0	1676	1116	39	2	709	2	C12orf12	12	91348005	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	21299021	91348005	42503890	374	10350											
CCDC41	51134	broad.mit.edu	37	chr12	94769688	94769688	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacaatgtatttatttctcGttcagctttatgcaatttat	10	19	6	6	1	2	0	1	0	1	0	3	1	2	1	0	1	2	4	0	1	6	9			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:94769688G>A	uc001tdd.3	-	7	1493	c.907C>T	c.(907-909)Cga>Tga	p.R303*	CCDC41_uc001tde.3_Nonsense_Mutation_p.R303*|CCDC41_uc009zsw.1_Non-coding_Transcript|CCDC41_uc001tdf.3_Nonsense_Mutation_p.R303*	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN	Homo sapiens coiled-coil domain containing 41 (CCDC41), transcript variant 1, mRNA.	295										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TTTATTTCTCGTTCAGCTTTA	0.259													5	18					0	0	1	0	0	A	94769688	G	A	94769688	4	1	241	1	0	0	0	0	0	1	0	0	2813	1153	40	1	1238	1	CCDC41	12	94769688	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3421683	94769688	39082207	375	10351											
NT5DC3	51559	broad.mit.edu	37	chr12	104208744	104208744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attgatgagaaggtcccgtgCagcattaaatatcagcgtgt	12	11	11	7	2	1	2	1	2	0	1	2	3	2	2	1	1	3	2	1	1	4	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:104208744C>T	uc010swe.1	-	1	405	c.364G>A	c.(364-366)Gca>Aca	p.A122T		NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN	Homo sapiens 5'-nucleotidase domain containing 3 (NT5DC3), mRNA.	122							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						AGGTCCCGTGCAGCATTAAAT	0.448													74	121					0	0	1	0	0	T	104208744	C	T	104208744	3	4	241	1	0	0	0	0	1	0	0	0	10692	710	25	3	1334	3	NT5DC3	12	104208744	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	9439056	104208744	29643151	376	10352											
TDG	6996	broad.mit.edu	37	chr12	104376688	104376688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacatggtggaaaggaccaCgcccggcagcaaagatctct	13	5	11	12	2	1	1	0	0	1	1	2	3	1	3	2	4	2	2	2	4	3	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:104376688C>T	uc001tkg.3	+	4	813	c.590C>T	c.(589-591)aCg>aTg	p.T197M	TDG_uc009zuk.3_Missense_Mutation_p.T193M|TDG_uc010swi.2_Missense_Mutation_p.T54M|TDG_uc010swj.2_Missense_Mutation_p.R13C	NM_003211	NP_003202	Q13569	TDG_HUMAN	Homo sapiens thymine-DNA glycosylase (TDG), mRNA.	197					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		GAAAGGACCACGCCCGGCAGC	0.463								Base excision repair (BER), DNA glycosylases					63	118					0	0	1	0	0	T	104376688	C	T	104376688	3	4	241	1	0	0	0	0	1	0	0	0	15722	536	19	1	608	1	TDG	12	104376688	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	167944	104376688	29475207	377	10353											
KCTD10	83892	broad.mit.edu	37	chr12	109889453	109889453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatgtggatcctccgcaCgcgctcgatccgctcccgct	4	10	10	17	6	0	1	0	1	0	0	5	3	4	2	4	1	0	4	4	1	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:109889453C>T	uc001toj.1	-	6	2629	c.916G>A	c.(916-918)Gtg>Atg	p.V306M	KCTD10_uc001toh.1_Non-coding_Transcript|KCTD10_uc009zvi.1_Missense_Mutation_p.V271M|KCTD10_uc001toi.1_Missense_Mutation_p.V297M|KCTD10_uc001tok.1_Missense_Mutation_p.V116M	NM_031954	NP_114160	Q9H3F6	BACD3_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 10 (KCTD10), mRNA.	297					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						ATCCTCCGCACGCGCTCGATC	0.716													46	80					0	0	1	0	0	T	109889453	C	T	109889453	3	4	241	1	0	0	0	0	1	0	0	0	8097	536	19	1	56	1	KCTD10	12	109889453	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5512765	109889453	23962442	378	10354											
OAS1	4938	broad.mit.edu	37	chr12	113354493	113354494	+	Frame_Shift_Ins	INS	-	-	A																															ggacaaagtattatgactttINSaaaaaccccattattgaaaa																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:113354493_113354494insA	uc001tuc.3	+	3	940_941	c.834_835insA	c.(832-837)tttaaafs	p.F278fs	OAS1_uc010syn.2_Frame_Shift_Ins_p.F277fs|OAS1_uc010syo.2_3'UTR|OAS1_uc001tub.3_Frame_Shift_Ins_p.F278fs|OAS1_uc001tud.3_Frame_Shift_Ins_p.F278fs|OAS1_uc009zwf.3_Frame_Shift_Ins_p.F277fs	NM_001032409	NP_001027581	P00973	OAS1_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 1, 40/46kDa (OAS1), transcript variant 3, mRNA.	278					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						ATTATGACTTTAAAAACCCCAT	0.431													78	124	---	---	---	---						A	113354494	-	A	113354493	7	5	241	1	0	1	1	0	0	0	0	0	10799	1751	61	0	848	0	OAS1	12	113354493	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	3465040	113354493	20497402	379	10355											
CIT	11113	broad.mit.edu	37	chr12	120128190	120128190	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctggggccttcgggcggCgctgggctggaggccacgcg	2	6	21	12	5	0	0	0	0	0	0	1	1	0	1	2	8	0	3	2	8	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:120128190C>T	uc001txj.2	-	46	6008	c.5952G>A	c.(5950-5952)gcG>gcA	p.A1984A	CIT_uc001txh.2_Silent_p.A1460A|CIT_uc001txi.2_Silent_p.A1942A	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1942					intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTTCGGGCGGCGCTGGGCTGG	0.706													13	22					0	0	1	0	0	T	120128190	C	T	120128190	2	4	241	1	0	0	0	0	0	0	0	1	3438	755	27	1		1	CIT	12	120128190	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	6773697	120128190	13723705	380	10356											
CIT	11113	broad.mit.edu	37	chr12	120189940	120189940	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctggctctccagggccGcccgtgcagcctgcagggct	5	6	15	15	2	1	0	0	0	1	0	2	1	1	0	4	3	4	5	4	3	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:120189940G>A	uc001txj.2	-	22	2875	c.2819C>T	c.(2818-2820)gCg>gTg	p.A940V	CIT_uc001txh.2_Missense_Mutation_p.A432V|CIT_uc001txi.2_Missense_Mutation_p.A898V	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	898					intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTCCAGGGCCGCCCGTGCAGC	0.627													30	58					0	0	1	0	0	A	120189940	G	A	120189940	3	1	241	1	0	0	0	0	1	0	0	0	3438	1087	38	1	3494	1	CIT	12	120189940	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	61750	120189940	13661955	381	10357											
RNF10	9921	broad.mit.edu	37	chr12	121000755	121000755	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccacgttagactcgggAagaggctctgtcgggattgg	7	9	16	9	3	1	2	0	0	1	2	3	4	1	4	1	5	0	2	1	5	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:121000755A>G	uc001typ.4	+	7	1619	c.1136A>G	c.(1135-1137)gAa>gGa	p.E379G	RNF10_uc010szk.2_Non-coding_Transcript|RNF10_uc001tyq.4_Missense_Mutation_p.E285G	NM_014868	NP_055683	Q8N5U6	RNF10_HUMAN	Homo sapiens ring finger protein 10 (RNF10), mRNA.	379					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAGACTCGGGAAGAGGCTCTG	0.547													31	66					0	0	1	0	0	G	121000755	A	G	121000755	3	3	241	1	0	0	0	0	1	0	0	0	13422	246	9	3	1166	3	RNF10	12	121000755	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	810815	121000755	12851140	382	10358											
PITPNM2	57605	broad.mit.edu	37	chr12	123473364	123473364	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggggaaggccgtgagggcGtcagggcagtacagggcgta	8	5	21	7	3	1	1	1	1	0	0	1	2	1	2	1	6	1	3	1	6	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:123473364G>A	uc001uej.1	-	17	2986	c.2787C>T	c.(2785-2787)gaC>gaT	p.D929D	PITPNM2_uc001uek.1_Silent_p.D923D	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	929	DDHD.				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCGTGAGGGCGTCAGGGCAGT	0.642													6	15					0	0	1	0	0	A	123473364	G	A	123473364	2	1	241	1	0	0	0	0	0	0	0	1	11951	1136	40	1		1	PITPNM2	12	123473364	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2472609	123473364	10378531	383	10359											
PITPNM2	57605	broad.mit.edu	37	chr12	123479976	123479976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgctggatggtatccagctCgtaggtggatgagtcgctcc	6	11	14	10	2	0	1	0	1	0	0	4	3	2	3	2	4	2	5	2	4	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:123479976C>T	uc001uej.1	-	12	2213	c.2014G>A	c.(2014-2016)Gag>Aag	p.E672K	PITPNM2_uc001uek.1_Missense_Mutation_p.E672K	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	672					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GTATCCAGCTCGTAGGTGGAT	0.647													27	124					0	0	1	0	0	T	123479976	C	T	123479976	3	4	241	1	0	0	0	0	1	0	0	0	11951	893	31	2	2087	2	PITPNM2	12	123479976	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	6612	123479976	10371919	384	10360											
NCOR2	9612	broad.mit.edu	37	chr12	124826571	124826571	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtagggtgggtacaggtgCgggtaggtggggttgggggc	5	8	25	3	1	0	0	0	0	0	0	0	0	0	0	0	10	2	4	0	10	3	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:124826571C>T	uc021rga.1	-	33	5124	c.5007G>A	c.(5005-5007)ccG>ccA	p.P1669P	NCOR2_uc021rgb.1_Silent_p.P1653P|NCOR2_uc010tbb.2_Silent_p.P1662P|NCOR2_uc010tbc.2_Silent_p.P1652P|NCOR2_uc021rgc.1_Silent_p.P1652P|NCOR2_uc010tba.2_Silent_p.P1670P|NCOR2_uc010tax.2_5'Flank	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	1670					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGTACAGGTGCGGGTAGGTGG	0.652													24	55					0	0	1	0	0	T	124826571	C	T	124826571	2	4	241	1	0	0	0	0	0	0	0	1	10236	755	27	1		1	NCOR2	12	124826571	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1346595	124826571	9025324	385	10361											
DHX37	57647	broad.mit.edu	37	chr12	125434988	125434988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcccggtgacacagcaccCgcccccgctcggggcagtat	6	5	13	17	4	0	1	0	1	0	0	1	1	0	1	4	4	1	4	4	4	1	1	rs146274723	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:125434988C>T	uc001ugy.3	-	22	3191	c.3092G>A	c.(3091-3093)cGg>cAg	p.R1031Q	DHX37_uc001ugz.1_Missense_Mutation_p.R118Q	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37), mRNA.	1031							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.G1030W(1)		breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		ACACAGCACCCGCCCCCGCTC	0.657													29	32					0	0	1	0	0	T	125434988	C	T	125434988	3	4	241	1	0	0	0	0	1	0	0	0	4510	652	23	2	401	2	DHX37	12	125434988	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	608417	125434988	8416907	386	10362											
TMEM132D	121256	broad.mit.edu	37	chr12	129566505	129566505	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggacccgcaccatggcGtgctggtactgcagggtgca	7	7	15	12	2	1	0	1	0	0	0	1	1	1	1	2	4	4	5	2	4	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:129566505G>A	uc009zyl.1	-	6	2050	c.1722C>T	c.(1720-1722)caC>caT	p.H574H	TMEM132D_uc001uia.2_Silent_p.H112H	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	574						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCACCATGGCGTGCTGGTACT	0.657													46	79					0	0	1	0	0	A	129566505	G	A	129566505	2	1	241	1	0	0	0	0	0	0	0	1	16044	1136	40	1		1	TMEM132D	12	129566505	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4131517	129566505	4285390	387	10363											
RIMBP2	23504	broad.mit.edu	37	chr12	130921520	130921520	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccttccggggcccacgggcGgctccagcatgtgcccatgc	4	6	14	17	3	0	0	0	0	0	0	2	0	2	0	5	4	3	2	5	4	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:130921520G>A	uc001uil.2	-	9	2138	c.1922C>T	c.(1921-1923)cCg>cTg	p.P641L	RIMBP2_uc001uim.3_Missense_Mutation_p.P549L	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	641	Pro-rich.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCCCACGGGCGGCTCCAGCAT	0.711													16	16					0	0	1	0	0	A	130921520	G	A	130921520	3	1	241	1	0	0	0	0	1	0	0	0	13363	1116	39	2	1276	2	RIMBP2	12	130921520	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1355015	130921520	2930375	388	10364											
RIMBP2	23504	broad.mit.edu	37	chr12	130927121	130927121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcctgctcgttccccagcGtgcttgccaaccgcgactcg	5	9	10	17	5	0	0	0	0	0	0	4	2	2	0	5	0	5	3	5	0	1	2	rs147881182	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:130927121G>A	uc001uil.2	-	7	941	c.725C>T	c.(724-726)aCg>aTg	p.T242M	RIMBP2_uc001uim.3_Missense_Mutation_p.T150M	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	242						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GTTCCCCAGCGTGCTTGCCAA	0.592													30	118					0	0	1	0	0	A	130927121	G	A	130927121	3	1	241	1	0	0	0	0	1	0	0	0	13363	1145	40	1	2481	1	RIMBP2	12	130927121	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	5601	130927121	2924774	389	10365											
POLE	5426	broad.mit.edu	37	chr12	133214643	133214643	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcgatggcatcttccacacGgcgcttctttgtacagagga	9	10	11	11	3	2	1	0	0	2	1	3	3	3	2	1	3	2	3	1	3	1	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:133214643G>A	uc001uks.1	-	40	5679	c.5635C>T	c.(5635-5637)Cgt>Tgt	p.R1879C	POLE_uc001ukq.1_Missense_Mutation_p.R89C|POLE_uc001ukr.1_Missense_Mutation_p.R683C|POLE_uc010tbq.1_Non-coding_Transcript	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1879					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TCTTCCACACGGCGCTTCTTT	0.547								DNA polymerases (catalytic subunits)					21	129					0	0	1	0	0	A	133214643	G	A	133214643	3	1	241	1	0	0	0	0	1	0	0	0	12196	1116	39	2	1261	2	POLE	12	133214643	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2287522	133214643	637252	390	10366											
POLE	5426	broad.mit.edu	37	chr12	133250239	133250239	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagcctagcttggccttggcGgccgccttgagattatgact	6	12	12	11	2	0	2	0	2	0	1	0	3	0	2	4	3	2	1	4	3	3	6			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:133250239G>A	uc001uks.1	-	12	1325	c.1281C>T	c.(1279-1281)gcC>gcT	p.A427A	POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Silent_p.A400A	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	427					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGGCCTTGGCGGCCGCCTTGA	0.582								DNA polymerases (catalytic subunits)					124	209					0	0	1	0	0	A	133250239	G	A	133250239	2	1	241	1	0	0	0	0	0	0	0	1	12196	1103	39	2		2	POLE	12	133250239	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	35596	133250239	601656	391	10367											
POLE	5426	broad.mit.edu	37	chr12	133254167	133254167	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccctgccccactcaccacGtggatcttcaggtcaatgga	10	8	8	15	1	4	0	3	0	1	0	4	2	4	2	4	3	2	0	4	3	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:133254167G>A	uc001uks.1	-	6	761	c.717C>T	c.(715-717)caC>caT	p.H239H	POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Silent_p.H212H	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	239					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CACTCACCACGTGGATCTTCA	0.498								DNA polymerases (catalytic subunits)					26	57					0	0	1	0	0	A	133254167	G	A	133254167	2	1	241	1	0	0	0	0	0	0	0	1	12196	1136	40	1		1	POLE	12	133254167	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3928	133254167	597728	392	10368											
CDC16	8881	broad.mit.edu	37	chr13	115016143	115016143	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcacagcagcacagctgaTgaaagggtacggcagagcaa	14	5	12	10	1	1	3	1	2	0	1	1	3	1	3	0	2	5	6	0	2	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr13:115016143T>C	uc001vuk.1	+	11	1289	c.1091T>C	c.(1090-1092)aTg>aCg	p.M364T	CDC16_uc001vul.1_Missense_Mutation_p.M364T|CDC16_uc001vum.1_Missense_Mutation_p.M270T|CDC16_uc001vun.1_Missense_Mutation_p.M363T|CDC16_uc001vuo.1_Missense_Mutation_p.M363T	NM_003903	NP_003894	Q13042	CDC16_HUMAN	Homo sapiens cell division cycle 16 homolog (S. cerevisiae) (CDC16), transcript variant 1, mRNA.	364					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding			endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			GCACAGCTGATGAAAGGGTAC	0.428													53	17					0	0	1	0	0	C	115016143	T	C	115016143	3	2	241	1	0	0	0	0	1	0	0	0	3058	1464	51	3	1137	3	CDC16	13	115016143	Missense_Mutation	SNP	T	TCGA-HT-8564-01A-11D-2395-08		115016143	153735	393	10369											
TEP1	7011	broad.mit.edu	37	chr14	20846220	20846220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtcagtaactggcaacccGcatgcaggaaaagcgcagca	13	4	11	13	3	1	0	1	0	0	0	1	1	1	1	2	2	5	6	2	2	4	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:20846220G>A	uc001vxe.3	-	38	5724	c.5684C>T	c.(5683-5685)gCg>gTg	p.A1895V	TEP1_uc010ahk.3_Missense_Mutation_p.A1238V|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.A1787V|TEP1_uc010tlh.1_Missense_Mutation_p.A233V	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1895					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CTGGCAACCCGCATGCAGGAA	0.592													91	34					0	0	1	0	0	A	20846220	G	A	20846220	3	1	241	1	0	0	0	0	1	0	0	0	15756	1087	38	1	2267	1	TEP1	14	20846220	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08		20846220	86503320	394	10370											
NDRG2	57447	broad.mit.edu	37	chr14	21486616	21486616	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggaacaggttactgacCttgaggaacgaggtctgggt	10	8	14	9	1	1	2	0	2	1	0	1	5	1	4	2	5	3	1	2	5	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:21486616C>T	uc001vyy.3	-	14	1011	c.861_splice	c.e14+1	p.K287_splice	NDRG2_uc010tll.2_Splice_Site_p.K283_splice|NDRG2_uc001vyt.3_Splice_Site_p.K200_splice|NDRG2_uc001vyu.3_Splice_Site_p.K244_splice|NDRG2_uc001vyv.3_Splice_Site_p.K273_splice|NDRG2_uc001vyw.3_Splice_Site_p.K273_splice|NDRG2_uc001vzb.3_Splice_Site_p.K227_splice|NDRG2_uc001vyx.3_Splice_Site_p.K287_splice|NDRG2_uc001vza.3_Splice_Site_p.K273_splice|NDRG2_uc001vyz.3_Splice_Site_p.K273_splice|NDRG2_uc001vzc.3_Intron|NDRG2_uc010aig.3_Splice_Site_p.K276_splice|NDRG2_uc001vze.3_Splice_Site_p.K287_splice|NDRG2_uc001vzd.3_Splice_Site_p.K287_splice|NDRG2_uc001vzg.3_Splice_Site_p.K273_splice|NDRG2_uc001vzf.3_Splice_Site_p.K273_splice	NM_201540	NP_963834	Q9UN36	NDRG2_HUMAN	Homo sapiens NDRG family member 2 (NDRG2), transcript variant 7, mRNA.	287					cell differentiation|nervous system development	Golgi apparatus|centrosome|cytosol|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GGTTACTGACCTTGAGGAACG	0.572													5	37					0	0	1	0	0	T	21486616	C	T	21486616	5	4	241	1	0	0	0	0	0	0	1	0	10252	695	24	3	270	3	NDRG2	14	21486616	Splice_Site	SNP	C	TCGA-HT-8564-01A-11D-2395-08	640396	21486616	85862924	395	10371											
RNF31	55072	broad.mit.edu	37	chr14	24629769	24629769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgggacagagtatcccccGcaggcggaagtagctgaggg	9	6	16	10	2	0	2	0	1	0	1	1	4	1	4	2	4	1	4	2	4	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:24629769G>A	uc001wmn.1	+	20	3455	c.3206G>A	c.(3205-3207)cGc>cAc	p.R1069H	RNF31_uc001wml.1_Missense_Mutation_p.R918H|RNF31_uc010alg.1_Missense_Mutation_p.R828H|RNF31_uc001wmo.1_Missense_Mutation_p.R536H|RNF31_uc001wmp.3_Non-coding_Transcript|RNF31_uc010alh.1_Missense_Mutation_p.R253H|IRF9_uc001wmq.3_5'UTR|IRF9_uc010alj.3_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	1069					CD40 signaling pathway|T cell receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination	CD40 receptor complex|LUBAC complex|internal side of plasma membrane	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	p.R1069fs*>4(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		AGTATCCCCCGCAGGCGGAAG	0.562											OREG0022619	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	17					0	0	1	0	0	A	24629769	G	A	24629769	3	1	241	1	0	0	0	0	1	0	0	0	13487	1087	38	1	3288	1	RNF31	14	24629769	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3143153	24629769	82719771	396	10372											
RABGGTA	5875	broad.mit.edu	37	chr14	24737796	24737796	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatgttggggcaactggtcGttgagggaggcagcaggcag	8	8	19	6	1	0	1	0	1	0	0	1	2	0	2	0	6	2	7	0	6	2	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:24737796G>A	uc001wof.3	-	8	1352	c.930C>T	c.(928-930)aaC>aaT	p.N310N	RABGGTA_uc001wog.3_Silent_p.N310N|HP08474_uc021rro.1_5'Flank	NM_004581	NP_878256	Q92696	PGTA_HUMAN	Homo sapiens Rab geranylgeranyltransferase, alpha subunit (RABGGTA), transcript variant 2, mRNA.	310					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GCAACTGGTCGTTGAGGGAGG	0.552													46	21					0	0	1	0	0	A	24737796	G	A	24737796	2	1	241	1	0	0	0	0	0	0	0	1	12967	1136	40	1		1	RABGGTA	14	24737796	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	108027	24737796	82611744	397	10373											
KHNYN	23351	broad.mit.edu	37	chr14	24901644	24901644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagacaagcagcagggcatgGcacggggtcgggggcctcaa	10	3	18	10	2	1	1	1	0	0	1	2	2	1	1	1	6	2	4	1	6	2	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:24901644G>A	uc010tpc.2	+	2	1316	c.1300G>A	c.(1300-1302)Gca>Aca	p.A434T	KHNYN_uc001wph.4_Missense_Mutation_p.A393T|KHNYN_uc010alw.3_Missense_Mutation_p.A393T|CBLN3_uc001wpg.4_5'Flank	NM_015299	NP_056114	O15037	KHNYN_HUMAN	Homo sapiens KH and NYN domain containing (KHNYN), mRNA.	393										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GCAGGGCATGGCACGGGGTCG	0.667											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	51					0	0	1	0	0	A	24901644	G	A	24901644	3	1	241	1	0	0	0	0	1	0	0	0	8150	1203	42	3	1183	3	KHNYN	14	24901644	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	163848	24901644	82447896	398	10374											
FBXO34	55030	broad.mit.edu	37	chr14	55818984	55818984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgctgggttcgagatccaCgctatagagaggatccttgc	8	10	12	11	3	0	2	0	0	0	2	4	5	2	3	2	2	1	3	2	2	2	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:55818984C>T	uc021rtk.1	+	0	1876	c.1876C>T	c.(1876-1878)Cgc>Tgc	p.R626C	FBXO34_uc001xbv.3_Non-coding_Transcript|FBXO34_uc001xbu.3_Missense_Mutation_p.R626C|FBXO34_uc010aoo.3_Missense_Mutation_p.R626C	NM_152231	NP_689417	Q9NWN3	FBX34_HUMAN	Homo sapiens F-box protein 34 (FBXO34), transcript variant 2, mRNA.	626										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						TCGAGATCCACGCTATAGAGA	0.478													54	34					0	0	1	0	0	T	55818984	C	T	55818984	3	4	241	1	0	0	0	0	1	0	0	0	5744	536	19	1	1878	1	FBXO34	14	55818984	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	30917340	55818984	51530556	399	10375											
C14orf37	145407	broad.mit.edu	37	chr14	58605364	58605364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcctgctgtggactcagcaCcaggaaaagaagttgtcctg	10	9	12	10	0	1	1	1	0	0	1	2	3	2	3	3	2	3	3	3	2	3	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:58605364C>T	uc010tro.2	-	2	1025	c.827G>A	c.(826-828)gGt>gAt	p.G276D	C14orf37_uc001xdc.3_Missense_Mutation_p.G238D|C14orf37_uc001xdd.3_Missense_Mutation_p.G238D|C14orf37_uc001xde.3_Missense_Mutation_p.G238D	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.	238						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GGACTCAGCACCAGGAAAAGA	0.498													57	32					0	0	1	0	0	T	58605364	C	T	58605364	3	4	241	1	0	0	0	0	1	0	0	0	1771	507	18	3	1639	3	C14orf37	14	58605364	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2786380	58605364	48744176	400	10376											
SPTB	6710	broad.mit.edu	37	chr14	65253771	65253771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactacctttgtcttgtccGtgatccacttgctggtctcc	4	15	7	15	1	2	1	0	1	2	0	5	1	4	1	5	1	2	1	5	1	1	4	rs138556050		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:65253771G>A	uc001xht.3	-	14	2963	c.2912C>T	c.(2911-2913)aCg>aTg	p.T971M	SPTB_uc001xhr.3_Missense_Mutation_p.T971M|SPTB_uc001xhs.3_Missense_Mutation_p.T971M|SPTB_uc001xhu.3_Missense_Mutation_p.T971M	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	971					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.T971M(4)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGTCTTGTCCGTGATCCACTT	0.592													42	10					0	0	1	0	0	A	65253771	G	A	65253771	3	1	241	1	0	0	0	0	1	0	0	0	15117	1145	40	1	4227	1	SPTB	14	65253771	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	6648407	65253771	42095769	401	10377											
PAPLN	89932	broad.mit.edu	37	chr14	73726060	73726060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacgaggtgaccccaggggcGaccaaggcacccacctgtca	11	3	12	15	2	1	1	1	1	0	0	1	3	1	1	5	4	1	1	5	4	2	0	rs151048072		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:73726060G>A	uc010ttx.2	+	14	1955	c.1792G>A	c.(1792-1794)Gac>Aac	p.D598N	PAPLN_uc001xnw.4_Missense_Mutation_p.D571N|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Missense_Mutation_p.D598N|PAPLN_uc010arm.3_5'Flank	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	598						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CCCCAGGGGCGACCAAGGCAC	0.672													57	28					0	0	1	0	0	A	73726060	G	A	73726060	3	1	241	1	0	0	0	0	1	0	0	0	11428	1058	37	2	1765	2	PAPLN	14	73726060	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	8472289	73726060	33623480	402	10378											
C14orf118	55668	broad.mit.edu	37	chr14	76668169	76668173	+	Frame_Shift_Del	DEL	AAGAA	AAGAA	-																															tacattttttaaaatgccacAagaaaagagccctggataca																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:76668169_76668173delAAGAA	uc001xsh.3	+	9	1510_1514	c.1424_1428delAAGAA	c.(1423-1428)caagaafs	p.Q475fs	C14orf118_uc001xsi.3_Frame_Shift_Del_p.Q470fs|C14orf118_uc001xsl.3_Non-coding_Transcript|C14orf118_uc001xsn.1_Non-coding_Transcript	NM_017926	NP_060396	Q9NWQ4	CN118_HUMAN	Homo sapiens chromosome 14 open reading frame 118 (C14orf118), transcript variant 1, mRNA.	475								p.E476*(2)		endometrium(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|skin(2)	16				BRCA - Breast invasive adenocarcinoma(234;0.0172)		AAAATGCCACAAGAAAAGAGCCCTG	0.488													40	49	---	---	---	---						-	76668173	AAGAA	-	76668169	7	5	241	1	0	1	0	1	0	0	0	0	1741	130	5	0	1502	0	C14orf118	14	76668169	Frame_Shift_Del	DEL	AAGAA	TCGA-HT-8564-01A-11D-2395-08	2942109	76668169	30681371	403	10379											
ESRRB	2103	broad.mit.edu	37	chr14	76905826	76905826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcgtccgacgccagcggcGgctttggcctggccctgggc	2	7	16	16	5	0	0	0	0	0	0	2	1	1	0	4	5	1	2	4	5	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:76905826G>A	uc001xsr.3	+	3	501	c.130G>A	c.(130-132)Ggc>Agc	p.G44S	ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Missense_Mutation_p.G44S	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.	44						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CGCCAGCGGCGGCTTTGGCCT	0.692													50	20					0	0	1	0	0	A	76905826	G	A	76905826	3	1	241	1	0	0	0	0	1	0	0	0	5261	1116	39	2	132	2	ESRRB	14	76905826	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	237657	76905826	30443714	404	10380											
CCDC88C	440193	broad.mit.edu	37	chr14	91806240	91806240	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgcacctcggtgcactcGtcccgctggtcgatgagcct	5	8	13	15	5	0	1	0	1	0	0	4	3	1	2	3	3	2	3	3	3	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:91806240G>A	uc010aty.3	-	6	766	c.612C>T	c.(610-612)gaC>gaT	p.D204D	CCDC88C_uc010twk.1_Silent_p.D168D	NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	204					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CGGTGCACTCGTCCCGCTGGT	0.677													3	7					0	0	1	0	0	A	91806240	G	A	91806240	2	1	241	1	0	0	0	0	0	0	0	1	2865	1136	40	1		1	CCDC88C	14	91806240	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	14900414	91806240	15543300	405	10381											
RIN3	79890	broad.mit.edu	37	chr14	93118358	93118358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagtgcctgccccccacGtcacaccccatgccccaggt	6	5	7	23	1	1	0	1	0	0	0	1	0	1	0	10	1	3	0	10	1	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:93118358G>A	uc001yap.3	+	5	1116	c.964G>A	c.(964-966)Gtc>Atc	p.V322I	RIN3_uc010auk.3_5'UTR|RIN3_uc001yaq.3_Missense_Mutation_p.V247I|RIN3_uc001yar.1_5'UTR|RIN3_uc001yas.1_5'UTR	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	322	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				tgcccccCACGTCACACCCCA	0.711													12	5					0	0	1	0	0	A	93118358	G	A	93118358	3	1	241	1	0	0	0	0	1	0	0	0	13373	1145	40	1	986	1	RIN3	14	93118358	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1312118	93118358	14231182	406	10382											
AK7	122481	broad.mit.edu	37	chr14	96864584	96864584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcccgcggcctgactttgCggtggagacgtactctgtaa	7	9	13	12	4	1	2	0	1	1	1	1	3	1	2	2	3	3	2	2	3	2	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:96864584C>T	uc001yfn.2	+	1	322	c.278C>T	c.(277-279)gCg>gTg	p.A93V	AK7_uc001yfm.1_Missense_Mutation_p.A93V	NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	93					cell projection organization	cytosol	ATP binding|adenylate kinase activity|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CCTGACTTTGCGGTGGAGACG	0.547													50	34					0	0	1	0	0	T	96864584	C	T	96864584	3	4	241	1	0	0	0	0	1	0	0	0	444	768	27	1	284	1	AK7	14	96864584	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3746226	96864584	10484956	407	10383											
TDRD9	122402	broad.mit.edu	37	chr14	104490932	104490932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggacttccagaagcagaCggtagatcctatgcaagtct	11	10	11	9	1	1	3	0	0	1	3	3	4	3	4	2	2	2	3	2	2	4	3	rs139118201	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:104490932C>T	uc001yom.4	+	24	2663	c.2633C>T	c.(2632-2634)aCg>aTg	p.T878M	TDRD9_uc001yon.4_Missense_Mutation_p.T616M	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	878					DNA methylation involved in gamete generation|cell differentiation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				CAGAAGCAGACGGTAGATCCT	0.343													38	26					0	0	1	0	0	T	104490932	C	T	104490932	3	4	241	1	0	0	0	0	1	0	0	0	15733	536	19	1	2731	1	TDRD9	14	104490932	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	7626348	104490932	2858608	408	10384											
KIAA0284	283638	broad.mit.edu	37	chr14	105354097	105354097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacatcctggccatgccccGgaagcgggccggctccttca	6	6	13	16	3	1	0	1	0	0	0	3	2	3	2	6	5	2	1	6	5	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:105354097G>A	uc001yps.3	+	10	3617	c.3311G>A	c.(3310-3312)cGg>cAg	p.R1104Q	KIAA0284_uc010axb.3_Missense_Mutation_p.R1104Q|KIAA0284_uc001ypt.3_5'Flank	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	1174						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		GCCATGCCCCGGAAGCGGGCC	0.697													4	8					0	0	1	0	0	A	105354097	G	A	105354097	3	1	241	1	0	0	0	0	1	0	0	0	8166	1116	39	2	3563	2	KIAA0284	14	105354097	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	863165	105354097	1995443	409	10385											
TJP1	7082	broad.mit.edu	37	chr15	30003072	30003072	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagaatgtatgtggagagaCgcgctggtgacaggctgaga	11	9	16	5	2	0	4	0	2	0	3	0	7	0	5	0	3	0	3	0	3	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:30003072C>T	uc001zcr.3	-	23	4810	c.4335G>A	c.(4333-4335)gcG>gcA	p.A1445A	TJP1_uc010azl.3_Silent_p.A1433A|TJP1_uc001zcq.3_Silent_p.A1369A|TJP1_uc001zcs.3_Silent_p.A1365A	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	1445					cell-cell junction assembly|cellular component disassembly involved in apoptosis	Golgi apparatus|basolateral plasma membrane|cell-cell adherens junction|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TGTGGAGAGACGCGCTGGTGA	0.498													56	256					0	0	1	0	0	T	30003072	C	T	30003072	2	4	241	1	0	0	0	0	0	0	0	1	15926	523	19	1		1	TJP1	15	30003072	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08		30003072	72528320	410	10386											
ZNF770	54989	broad.mit.edu	37	chr15	35274621	35274621	+	Frame_Shift_Del	DEL	T	T	-																															acgcttaagcttggccaagaTttttttaacaatggttttat																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:35274621delT	uc001ziw.3	-	2	1369	c.1015delA	c.(1015-1017)atcfs	p.I339fs	ZNF770_uc021siy.1_Frame_Shift_Del_p.I339fs	NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	Homo sapiens zinc finger protein 770 (ZNF770), mRNA.	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I339I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TTGGCCAAGATTTTTTTAACA	0.328													11	26	---	---	---	---						-	35274621	T	-	35274621	7	5	241	1	0	1	0	1	0	0	0	0	18140	1493	52	0	1064	0	ZNF770	15	35274621	Frame_Shift_Del	DEL	T	TCGA-HT-8564-01A-11D-2395-08	5271549	35274621	67256771	411	10387											
ZFYVE19	84936	broad.mit.edu	37	chr15	41102150	41102150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcgcctagcacgactcCgccaggagaacaagcccagt	11	4	11	15	3	0	2	0	1	0	1	1	4	1	2	4	1	4	1	4	1	3	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:41102150C>T	uc001zmt.1	+	3	1067	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	DNAJC17_uc001zms.2_5'Flank|DNAJC17_uc010bbz.2_5'Flank|DNAJC17_uc010bca.2_5'Flank|DNAJC17_uc010bcb.2_5'Flank|ZFYVE19_uc001zmu.1_Missense_Mutation_p.R185C|ZFYVE19_uc001zmv.1_Missense_Mutation_p.R10C	NM_001077268	NP_001070736	Q96K21	ZFY19_HUMAN	Homo sapiens zinc finger, FYVE domain containing 19 (ZFYVE19), mRNA.	185							zinc ion binding	p.R185C(6)|p.L184L(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		AGCACGACTCCGCCAGGAGAA	0.602													45	72					0	0	1	0	0	T	41102150	C	T	41102150	3	4	241	1	0	0	0	0	1	0	0	0	17662	652	23	2	567	2	ZFYVE19	15	41102150	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5827529	41102150	61429242	412	10388											
SQRDL	58472	broad.mit.edu	37	chr15	45974846	45974846	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccttcctacgtcaaagacCgctgctgcagtaggtaagtc	11	9	9	12	2	1	1	1	0	0	1	3	1	2	1	3	1	4	5	3	1	5	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:45974846C>T	uc001zvu.3	+	7	1228	c.1035C>T	c.(1033-1035)acC>acT	p.T345T	SQRDL_uc001zvv.3_Silent_p.T345T	NM_021199	NP_067022	Q9Y6N5	SQRD_HUMAN	Homo sapiens sulfide quinone reductase-like (yeast) (SQRDL), nuclear gene encoding mitochondrial protein, mRNA.	345							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		CGTCAAAGACCGCTGCTGCAG	0.478													51	76					0	0	1	0	0	T	45974846	C	T	45974846	2	4	241	1	0	0	0	0	0	0	0	1	15128	639	23	2		2	SQRDL	15	45974846	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4872696	45974846	56556546	413	10389											
PIGB	9488	broad.mit.edu	37	chr15	55647590	55647590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacatatatgtctatgaacGgaagttaaaagggaaattca	17	11	8	5	1	3	1	2	1	1	0	3	3	3	3	0	2	1	1	0	2	8	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:55647590G>A	uc002act.3	+	11	1941	c.1625G>A	c.(1624-1626)cGg>cAg	p.R542Q	CCPG1_uc002acy.3_3'UTR|PIGB_uc010ugg.2_Missense_Mutation_p.R347Q|CCPG1_uc002acu.2_3'UTR|CCPG1_uc002acz.2_3'UTR|CCPG1_uc002acw.2_3'UTR|CCPG1_uc002acx.3_3'UTR|CCPG1_uc010bfk.2_3'UTR|CCPG1_uc002acv.2_3'UTR	NM_004855	NP_004846	Q92521	PIGB_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class B (PIGB), mRNA.	542					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		GTCTATGAACGGAAGTTAAAA	0.358													11	98					0	0	1	0	0	A	55647590	G	A	55647590	3	1	241	1	0	0	0	0	1	0	0	0	11885	1116	39	2	1671	2	PIGB	15	55647590	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	9672744	55647590	46883802	414	10390											
IQCH	64799	broad.mit.edu	37	chr15	67629360	67629360	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctaacatatccagcctcacGgttctgccatcttctcattg	8	14	5	14	1	5	0	2	0	4	0	7	0	6	0	3	1	3	1	3	1	2	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:67629360G>A	uc002aqo.2	+	4	532	c.435G>A	c.(433-435)acG>acA	p.T145T	IQCH_uc010ujv.2_Intron|IQCH_uc002aqn.2_Intron|IQCH_uc002aqp.2_Intron|IQCH_uc002aqq.2_Intron	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	145								p.L144F(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CCAGCCTCACGGTTCTGCCAT	0.383													8	134					0	0	1	0	0	A	67629360	G	A	67629360	2	1	241	1	0	0	0	0	0	0	0	1	7811	1103	39	2		2	IQCH	15	67629360	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	11981770	67629360	34902032	415	10391											
UACA	55075	broad.mit.edu	37	chr15	70991907	70991907	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttgcctggattgaccccCtttttagcaaggattgaggt	8	14	11	8	0	0	2	0	2	0	0	0	4	0	4	3	3	2	2	3	3	2	6			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:70991907C>T	uc002asr.3	-	1	275	c.171G>A	c.(169-171)aaG>aaA	p.K57K	UACA_uc010uke.2_Silent_p.K57K|UACA_uc002asq.3_Silent_p.K44K|UACA_uc010bin.1_Silent_p.K43K	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.	57						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GATTGACCCCCTTTTTAGCAA	0.403													65	90					0	0	1	0	0	T	70991907	C	T	70991907	2	4	241	1	0	0	0	0	0	0	0	1	16821	680	24	3		3	UACA	15	70991907	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3362547	70991907	31539485	416	10392											
IL16	3603	broad.mit.edu	37	chr15	81592468	81592469	+	Frame_Shift_Ins	INS	-	-	C																															cagcccaatcagaaaactctINScccccctggcccggacccgc																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:81592468_81592469insC	uc021ssh.1	+	12	2902_2903	c.2801_2802insC	c.(2800-2802)ctcfs	p.L934fs	IL16_uc010blq.1_Frame_Shift_Ins_p.L888fs|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Frame_Shift_Ins_p.L976fs|IL16_uc002bgg.3_Frame_Shift_Ins_p.L934fs|IL16_uc002bgi.1_Frame_Shift_Ins_p.L324fs|IL16_uc002bgj.3_Frame_Shift_Ins_p.L428fs|IL16_uc021ssi.1_Frame_Shift_Ins_p.L233fs|IL16_uc002bgl.1_Frame_Shift_Ins_p.L233fs|IL16_uc010unq.1_Frame_Shift_Ins_p.L233fs	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	934				L -> F (in Ref. 1; AAD04636).	immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CAGAAAACTCTCCCCCCTGGCC	0.644													10	157	---	---	---	---						C	81592469	-	C	81592468	7	5	241	1	0	1	1	0	0	0	0	0	7633	1551	54	0	2851	0	IL16	15	81592468	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	10600561	81592468	20938924	417	10393											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84651306	84651306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccatggtcttgctgcccccGacatcggcgtgtaccggtgc	4	10	12	15	4	1	0	0	0	1	0	3	1	2	0	4	3	4	2	4	3	1	2	rs150618994		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:84651306G>A	uc002bjz.4	+	20	3150	c.2926G>A	c.(2926-2928)Gac>Aac	p.D976N	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.D976N	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	976	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGCTGCCCCCGACATCGGCGT	0.567													68	116					0	0	1	0	0	A	84651306	G	A	84651306	3	1	241	1	0	0	0	0	1	0	0	0	276	1058	37	2	3004	2	ADAMTSL3	15	84651306	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3058838	84651306	17880086	418	10394											
ALPK3	57538	broad.mit.edu	37	chr15	85382932	85382932	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctcccgctcctacctctaGgtgtcgagaagaagatgccg	9	8	10	14	3	1	3	0	0	1	3	4	4	3	3	5	1	2	1	5	1	4	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:85382932G>A	uc002ble.3	+	5	1196	c.1029_splice	c.e5-1	p.R343_splice		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	343	Ig-like 1.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCTACCTCTAGGTGTCGAGAA	0.647													53	103					0	0	1	0	0	A	85382932	G	A	85382932	5	1	241	1	0	0	0	0	0	0	1	0	546	1014	35	3	1046	3	ALPK3	15	85382932	Splice_Site	SNP	G	TCGA-HT-8564-01A-11D-2395-08	731626	85382932	17148460	419	10395											
ALPK3	57538	broad.mit.edu	37	chr15	85403041	85403041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccggcggccttggccatcGtgcaggcctcccccgtagac	4	6	14	17	4	0	1	0	0	0	1	2	1	1	1	6	5	1	2	6	5	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:85403041G>A	uc002ble.3	+	7	4773	c.4606G>A	c.(4606-4608)Gtg>Atg	p.V1536M		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1536	Ig-like 2.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTTGGCCATCGTGCAGGCCTC	0.657													36	42					0	0	1	0	0	A	85403041	G	A	85403041	3	1	241	1	0	0	0	0	1	0	0	0	546	1145	40	1	4636	1	ALPK3	15	85403041	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	20109	85403041	17128351	420	10396											
AGBL1	123624	broad.mit.edu	37	chr15	86800128	86800128	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcccgtcatctctgtggtGcttcagatcctgaggcagtg	6	11	13	11	1	3	2	2	1	1	1	5	3	4	2	2	2	2	2	2	2	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:86800128G>A	uc002blz.1	+	6	722	c.642G>A	c.(640-642)gtG>gtA	p.V214V		NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	214					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TCTCTGTGGTGCTTCAGATCC	0.562													8	39					0	0	1	0	0	A	86800128	G	A	86800128	2	1	241	1	0	0	0	0	0	0	0	1	375	1306	46	3		3	AGBL1	15	86800128	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1397087	86800128	15731264	421	10397											
KIF7	374654	broad.mit.edu	37	chr15	90176401	90176401	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaggctgaccacagagcCgttgctgccactgcgcctct	6	9	10	16	2	1	2	0	1	1	1	2	2	2	2	5	1	4	3	5	1	0	2	rs149548398		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:90176401C>T	uc002bof.2	-	12	2766	c.2689G>A	c.(2689-2691)Ggc>Agc	p.G897S	KIF7_uc010upw.1_Missense_Mutation_p.G383S	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	Homo sapiens kinesin family member 7 (KIF7), mRNA.	897					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			ACCACAGAGCCGTTGCTGCCA	0.622													6	20					0	0	1	0	0	T	90176401	C	T	90176401	3	4	241	1	0	0	0	0	1	0	0	0	8309	652	23	2	1370	2	KIF7	15	90176401	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3376273	90176401	12354991	422	10398											
MAN2A2	4122	broad.mit.edu	37	chr15	91455396	91455396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacggccggcagctgtccGtcagcaggcacgaagcgttt	7	7	14	13	5	1	0	1	0	0	0	2	1	2	0	2	3	4	6	2	3	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:91455396G>A	uc010bnz.2	+	14	2348	c.2233G>A	c.(2233-2235)Gtc>Atc	p.V745I	MAN2A2_uc002bqc.3_Missense_Mutation_p.V745I|MAN2A2_uc010uql.2_Missense_Mutation_p.V407I|MAN2A2_uc010uqm.2_Missense_Mutation_p.V324I|MAN2A2_uc010uqn.1_Non-coding_Transcript	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	745					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCAGCTGTCCGTCAGCAGGCA	0.647													45	170					0	0	1	0	0	A	91455396	G	A	91455396	3	1	241	1	0	0	0	0	1	0	0	0	9215	1145	40	1	2287	1	MAN2A2	15	91455396	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1278995	91455396	11075996	423	10399											
CHD2	1106	broad.mit.edu	37	chr15	93489391	93489391	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagaaattccagaattgcaTtgacagcttccacagtagga	16	9	8	8	0	0	3	0	1	0	2	2	4	2	4	2	1	2	3	2	1	4	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:93489391T>C	uc002bsp.3	+	11	1897	c.1322T>C	c.(1321-1323)aTt>aCt	p.I441T	CHD2_uc002bsn.3_Missense_Mutation_p.I441T|CHD2_uc002bso.1_Missense_Mutation_p.I441T|CHD2_uc010urb.2_Missense_Mutation_p.I454T|CHD2_uc010bof.1_Non-coding_Transcript	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	441	Chromo 2.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CAGAATTGCATTGACAGCTTC	0.418													49	67					0	0	1	0	0	C	93489391	T	C	93489391	3	2	241	1	0	0	0	0	1	0	0	0	3325	1493	52	3	1364	3	CHD2	15	93489391	Missense_Mutation	SNP	T	TCGA-HT-8564-01A-11D-2395-08	2033995	93489391	9042001	424	10400											
LRRK1	79705	broad.mit.edu	37	chr15	101567987	101567987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaacgacatcaaggactacGaggacctgcagtcaggtggg	13	5	13	10	2	2	0	2	0	0	0	2	4	2	2	1	4	3	1	1	4	3	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:101567987G>A	uc002bwr.3	+	18	2990	c.2671G>A	c.(2671-2673)Gag>Aag	p.E891K	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	891					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAAGGACTACGAGGACCTGCA	0.617													5	10					0	0	1	0	0	A	101567987	G	A	101567987	3	1	241	1	0	0	0	0	1	0	0	0	9032	1059	37	2	2741	2	LRRK1	15	101567987	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	8078596	101567987	963405	425	10401											
MSLN	10232	broad.mit.edu	37	chr16	814961	814961	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtttcttctcccgcatcacGaaggccaatgtggacctgct	7	11	9	14	3	3	0	1	0	2	0	4	2	3	1	3	2	1	3	3	2	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:814961G>A	uc002cjw.2	+	6	546	c.435G>A	c.(433-435)acG>acA	p.T145T	MSLN_uc002cju.1_Silent_p.T145T|MSLN_uc002cjt.1_Silent_p.T145T|MSLN_uc010brd.1_Silent_p.T144T|MSLN_uc002cjy.1_5'Flank	NM_013404	NP_037536	Q13421	MSLN_HUMAN	Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA.	145					cell adhesion	Golgi apparatus|anchored to membrane|extracellular region|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CCCGCATCACGAAGGCCAATG	0.701													11	34					0	0	1	0	0	A	814961	G	A	814961	2	1	241	1	0	0	0	0	0	0	0	1	9881	1045	37	2		2	MSLN	16	814961	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08		814961	89539792	426	10402											
RPUSD1	113000	broad.mit.edu	37	chr16	836114	836114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctatcctcggggtcagggtCgggggtggcccgtaaggcct	4	8	17	12	3	1	0	1	0	0	0	4	0	2	0	4	7	0	1	4	7	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:836114C>T	uc002cka.3	-	4	1009	c.775G>A	c.(775-777)Gac>Aac	p.D259N	RPUSD1_uc002ckb.3_Missense_Mutation_p.D259N|CHTF18_uc010uus.1_5'Flank|CHTF18_uc010bre.1_5'Flank|CHTF18_uc002cke.4_5'Flank|CHTF18_uc002ckf.4_5'Flank|CHTF18_uc010brf.3_5'Flank|CHTF18_uc002ckg.4_5'Flank	NM_058192	NP_478072	Q9UJJ7	RUSD1_HUMAN	Homo sapiens RNA pseudouridylate synthase domain containing 1 (RPUSD1), mRNA.	259	Pro-rich.				pseudouridine synthesis		RNA binding|pseudouridine synthase activity			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				GGGTCAGGGTCGGGGGTGGCC	0.726													51	38					0	0	1	0	0	T	836114	C	T	836114	3	4	241	1	0	0	0	0	1	0	0	0	13666	884	31	2	167	2	RPUSD1	16	836114	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	21153	836114	89518639	427	10403											
PRR25	388199	broad.mit.edu	37	chr16	855739	855739	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctcaggaacagcgcagccGctcgcaaatgcagtgtgcga	11	5	13	12	4	1	0	1	0	0	0	2	2	1	1	1	1	6	5	1	1	2	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:855739G>A	uc010uut.2	+	0	297	c.297G>A	c.(295-297)ccG>ccA	p.P99P		NM_001013638	NP_001013660	Q96S07	PRR25_HUMAN	Homo sapiens proline rich 25 (PRR25), mRNA.	99										large_intestine(1)|lung(1)|skin(1)	3						CAGCGCAGCCGCTCGCAAATG	0.647													19	26					0	0	1	0	0	A	855739	G	A	855739	2	1	241	1	0	0	0	0	0	0	0	1	12597	1074	38	1		1	PRR25	16	855739	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	19625	855739	89499014	428	10404											
CACNA1H	8912	broad.mit.edu	37	chr16	1250283	1250283	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacctgaccttcctgcggccGtactaccagacggaggaggg	9	6	13	13	3	0	2	0	1	0	1	1	4	1	4	5	4	4	1	5	4	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:1250283G>A	uc002cks.3	+	6	1079	c.831G>A	c.(829-831)ccG>ccA	p.P277P	CACNA1H_uc002ckt.3_Silent_p.P277P	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	277					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TCCTGCGGCCGTACTACCAGA	0.632													3	25					0	0	1	0	0	A	1250283	G	A	1250283	2	1	241	1	0	0	0	0	0	0	0	1	2545	1132	40	1		1	CACNA1H	16	1250283	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	394544	1250283	89104470	429	10405											
TPSAB1	7177	broad.mit.edu	37	chr16	1292148	1292148	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggcgtggtcagctggggCgagggctgtgcccagcccaa	5	5	19	12	3	1	0	1	0	0	0	1	1	1	0	2	5	3	2	2	5	1	0	rs147278526	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:1292148C>T	uc002ckz.3	+	5	787	c.735C>T	c.(733-735)ggC>ggT	p.G245G	TPSAB1_uc010uux.2_Silent_p.G181G	NM_003294	NP_003285	P20231	TRYB2_HUMAN	Homo sapiens tryptase alpha/beta 1 (TPSAB1), mRNA.	245	Peptidase S1.				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				TCAGCTGGGGCGAGGGCTGTG	0.657													11	36					0	0	1	0	0	T	1292148	C	T	1292148	2	4	241	1	0	0	0	0	0	0	0	1	16420	755	27	1		1	TPSAB1	16	1292148	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	41865	1292148	89062605	430	10406											
C16orf42	115939	broad.mit.edu	37	chr16	1400178	1400180	+	In_Frame_Del	DEL	AAG	AAG	-																															ggagctggcggttcaggtccAagaagcccttgccccattta																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:1400178_1400180delAAG	uc002cll.3	-	3	650_652	c.582_584delCTT	c.(580-585)ttcttg>ttg	p.F194del	GNPTG_uc002clm.3_5'Flank	NM_001001410	NP_001001410	Q9UJK0	TSR3_HUMAN	Homo sapiens chromosome 16 open reading frame 42 (C16orf42), mRNA.	194					rRNA processing					endometrium(1)|kidney(1)|lung(2)	4		Hepatocellular(780;0.0893)				GTTCAGGTCCAAGAAGCCCTTGC	0.591													21	44	---	---	---	---						-	1400180	AAG	-	1400178	7	5	241	1	0	1	0	1	0	0	0	0	1813	131	5	0	366	0	C16orf42	16	1400178	In_Frame_Del	DEL	AAG	TCGA-HT-8564-01A-11D-2395-08	108030	1400178	88954575	431	10407											
RAB26	25837	broad.mit.edu	37	chr16	2202854	2202854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatccacgagtacgcccagCacgacgtggcgctcatgctg	9	6	12	14	5	1	1	1	0	0	1	2	3	2	1	2	1	3	4	2	1	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:2202854C>T	uc002cou.3	+	5	636	c.502C>T	c.(502-504)Cac>Tac	p.H168Y	RAB26_uc010bsf.3_Missense_Mutation_p.H102Y|TRAF7_uc002cow.3_5'Flank	NM_014353	NP_055168	Q9ULW5	RAB26_HUMAN	Homo sapiens RAB26, member RAS oncogene family (RAB26), mRNA.	168					exocrine system development|protein transport|regulation of exocytosis|small GTPase mediated signal transduction	intrinsic to plasma membrane	GTP binding|protein binding			kidney(1)|large_intestine(1)|lung(3)	5						GTACGCCCAGCACGACGTGGC	0.687													17	47					0	0	1	0	0	T	2202854	C	T	2202854	3	4	241	1	0	0	0	0	1	0	0	0	12913	710	25	3	524	3	RAB26	16	2202854	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	802676	2202854	88151899	432	10408											
ABCA3	21	broad.mit.edu	37	chr16	2367755	2367755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctgctgagccccatcatgCgcatgtactcctggggagag	8	8	13	12	1	1	2	1	1	0	1	2	3	2	2	3	2	5	4	3	2	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:2367755C>T	uc002cpy.1	-	8	1596	c.884G>A	c.(883-885)cGc>cAc	p.R295H	ABCA3_uc010bsk.1_Missense_Mutation_p.R295H|ABCA3_uc010bsl.1_Missense_Mutation_p.R295H	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	295					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CCCCATCATGCGCATGTACTC	0.627													51	62					0	0	1	0	0	T	2367755	C	T	2367755	3	4	241	1	0	0	0	0	1	0	0	0	33	768	27	1	4330	1	ABCA3	16	2367755	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	164901	2367755	87986998	433	10409											
NTN3	4917	broad.mit.edu	37	chr16	2522004	2522004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggagtccctgcctcgggCgcccctcaacgtgactctca	5	8	10	18	4	2	1	2	1	1	0	6	2	3	2	4	2	2	0	4	2	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:2522004C>T	uc002cqj.3	+	0	505	c.302C>T	c.(301-303)gCg>gTg	p.A101V		NM_006181	NP_006172	O00634	NET3_HUMAN	Homo sapiens netrin 3 (NTN3), mRNA.	101	Laminin N-terminal.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						CTGCCTCGGGCGCCCCTCAAC	0.706													15	53					0	0	1	0	0	T	2522004	C	T	2522004	3	4	241	1	0	0	0	0	1	0	0	0	10701	768	27	1	304	1	NTN3	16	2522004	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	154249	2522004	87832749	434	10410											
NTN3	4917	broad.mit.edu	37	chr16	2522180	2522180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtgacctggactatggcCgtctgcctgcccctgccaat	6	10	10	15	1	1	1	0	1	1	0	1	2	1	2	6	2	3	0	6	2	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:2522180C>T	uc002cqj.3	+	0	681	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C	TBC1D24_uc002cql.3_5'Flank|TBC1D24_uc002cqk.3_5'Flank	NM_006181	NP_006172	O00634	NET3_HUMAN	Homo sapiens netrin 3 (NTN3), mRNA.	160	Laminin N-terminal.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix		p.R160H(1)		breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						GGACTATGGCCGTCTGCCTGC	0.697													18	44					0	0	1	0	0	T	2522180	C	T	2522180	3	4	241	1	0	0	0	0	1	0	0	0	10701	652	23	2	480	2	NTN3	16	2522180	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	176	2522180	87832573	435	10411											
ZNF205	7755	broad.mit.edu	37	chr16	3169669	3169669	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacacgggcgagaagccctaCgcctgcactgactgcgggaa	10	4	13	14	4	0	2	0	1	0	1	0	4	0	3	2	2	4	1	2	2	3	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:3169669C>T	uc002cub.3	+	6	1143	c.1008C>T	c.(1006-1008)taC>taT	p.Y336Y	ZNF205_uc002cua.3_Silent_p.Y336Y	NM_001042428	NP_003447	O95201	ZN205_HUMAN	Homo sapiens zinc finger protein 205 (ZNF205), transcript variant 2, mRNA.	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						AGAAGCCCTACGCCTGCACTG	0.682													86	89					0	0	1	0	0	T	3169669	C	T	3169669	2	4	241	1	0	0	0	0	0	0	0	1	17761	547	19	1		1	ZNF205	16	3169669	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	647489	3169669	87185084	436	10412											
ABAT	18	broad.mit.edu	37	chr16	8858658	8858658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctgctccaatgaaaacGccttaaagaccatcttcatg	12	10	6	13	1	2	2	1	1	1	1	4	2	4	2	4	0	2	2	4	0	5	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:8858658G>A	uc002czc.4	+	7	677	c.511G>A	c.(511-513)Gcc>Acc	p.A171T	ABAT_uc002czd.4_Missense_Mutation_p.A171T|ABAT_uc010buh.3_Missense_Mutation_p.A113T|ABAT_uc010bui.3_Missense_Mutation_p.A171T	NM_020686	NP_065737	P80404	GABT_HUMAN	Homo sapiens 4-aminobutyrate aminotransferase (ABAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	171				MSQLITMACGSCSNENA -> CPSSSPWPACPAPMKTT (in Ref. 2; AAB38510).	behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	p.A171T(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CAATGAAAACGCCTTAAAGAC	0.592													25	97					0	0	1	0	0	A	8858658	G	A	8858658	3	1	241	1	0	0	0	0	1	0	0	0	27	1087	38	1	537	1	ABAT	16	8858658	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	5688989	8858658	81496095	437	10413											
KIAA0430	9665	broad.mit.edu	37	chr16	15711316	15711316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtaggagacacaccagccGtccgtttccttgttcacgga	8	9	12	12	3	1	1	1	0	0	1	3	3	3	2	4	3	1	3	4	3	1	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:15711316G>A	uc002ddr.3	-	13	3004	c.2797C>T	c.(2797-2799)Cgg>Tgg	p.R933W	KIAA0430_uc002ddq.3_Missense_Mutation_p.R767W|KIAA0430_uc010uzv.2_Missense_Mutation_p.R930W|KIAA0430_uc010uzw.2_Missense_Mutation_p.R933W	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	932						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CACACCAGCCGTCCGTTTCCT	0.512													16	56					0	0	1	0	0	A	15711316	G	A	15711316	3	1	241	1	0	0	0	0	1	0	0	0	8177	1144	40	1	2487	1	KIAA0430	16	15711316	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	6852658	15711316	74643437	438	10414											
NDE1	54820	broad.mit.edu	37	chr16	15758701	15758701	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactattggaaagatctggcGatgacctacaaacagaggtc	15	8	10	8	1	1	3	0	1	1	2	2	5	1	4	1	3	3	0	1	3	5	3	rs143820142		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:15758701G>A	uc002ddt.1	+	0	109	c.66G>A	c.(64-66)gcG>gcA	p.A22A	NDE1_uc010uzy.2_Silent_p.A22A|NDE1_uc002dds.3_Silent_p.A22A	NM_017668	NP_060138	Q9NXR1	NDE1_HUMAN	Homo sapiens nudE nuclear distribution gene E homolog 1 (A. nidulans) (NDE1), transcript variant 2, mRNA.	22	Self-association (By similarity).				G2/M transition of mitotic cell cycle|cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						AAGATCTGGCGATGACCTACA	0.473													90	80					0	0	1	0	0	A	15758701	G	A	15758701	2	1	241	1	0	0	0	0	0	0	0	1	10243	1045	37	2		2	NDE1	16	15758701	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	47385	15758701	74596052	439	10415											
DNAH3	55567	broad.mit.edu	37	chr16	21049298	21049298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgcaacgatcttctgggCgagactagaagggcaaagac	12	6	14	9	3	2	3	0	0	2	3	3	5	2	3	0	3	1	2	0	3	4	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:21049298C>T	uc010vbe.2	-	33	4735	c.4735G>A	c.(4735-4737)Gcc>Acc	p.A1579T		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1579	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATCTTCTGGGCGAGACTAGAA	0.552													4	45					0	0	1	0	0	T	21049298	C	T	21049298	3	4	241	1	0	0	0	0	1	0	0	0	4603	768	27	1	7730	1	DNAH3	16	21049298	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5290597	21049298	69305455	440	10416											
IL21R	50615	broad.mit.edu	37	chr16	27445714	27445714	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacaccgattacctccagacGgtcatctgcatcctggaaat	11	10	7	13	2	2	1	1	0	1	1	4	3	4	2	4	2	3	1	4	2	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:27445714G>A	uc002dor.2	+	3	710	c.162G>A	c.(160-162)acG>acA	p.T54T	IL21R_uc002doq.2_Silent_p.T32T|IL21R_uc002dos.2_Silent_p.T32T	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	32					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						ACCTCCAGACGGTCATCTGCA	0.632			T	BCL6	NHL								46	43					0	0	1	0	0	A	27445714	G	A	27445714	2	1	241	1	0	0	0	0	0	0	0	1	7671	1103	39	2		2	IL21R	16	27445714	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	6396416	27445714	62909039	441	10417											
SEZ6L2	26470	broad.mit.edu	37	chr16	29900012	29900012	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acactcacgtccccatgggcCggccggggagggaagccaca	9	3	14	15	3	1	0	1	0	0	0	2	2	2	2	5	5	1	0	5	5	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:29900012C>T	uc010vec.2	-	5	1133	c.888G>A	c.(886-888)ccG>ccA	p.P296P	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Silent_p.P226P|SEZ6L2_uc002dur.4_Silent_p.P226P|SEZ6L2_uc002duq.4_Silent_p.P296P|SEZ6L2_uc010ved.2_Silent_p.P252P|SEZ6L2_uc002dus.4_Silent_p.P182P	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	296	Sushi 1.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCCCATGGGCCGGCCGGGGAG	0.637													14	75					0	0	1	0	0	T	29900012	C	T	29900012	2	4	241	1	0	0	0	0	0	0	0	1	14144	639	23	2		2	SEZ6L2	16	29900012	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2454298	29900012	60454741	442	10418											
C16orf92	146378	broad.mit.edu	37	chr16	30035371	30035371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggcttgctggtggtggCgttcttctttctccttttcc	0	18	13	10	1	3	0	0	0	3	0	5	0	4	0	2	5	1	3	2	5	0	6			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:30035371C>T	uc002dvr.2	+	2	282	c.275C>T	c.(274-276)gCg>gTg	p.A92V	BOLA2_uc010bzb.1_Intron|C16orf92_uc002dvs.2_Missense_Mutation_p.A114V	NM_001109659	NP_001103129	Q96LL3	CP092_HUMAN	Homo sapiens chromosome 16 open reading frame 92 (C16orf92), transcript variant 1, mRNA.	114						integral to membrane				breast(3)|lung(3)	6						CTGGTGGTGGCGTTCTTCTTT	0.582													63	74					0	0	1	0	0	T	30035371	C	T	30035371	3	4	241	1	0	0	0	0	1	0	0	0	1845	768	27	1	365	1	C16orf92	16	30035371	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	135359	30035371	60319382	443	10419											
TRIM72	493829	broad.mit.edu	37	chr16	31230620	31230620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccctgcaggagacagtgcGtcagttccggggggccgtgg	6	7	17	11	3	1	1	1	0	0	1	3	2	3	1	3	5	2	2	3	5	0	1	rs140684083	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:31230620G>A	uc002ebn.2	+	3	781	c.497G>A	c.(496-498)cGt>cAt	p.R166H	PYDC1_uc002ebo.3_5'Flank|PYDC1_uc021tgv.1_5'Flank	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN	Homo sapiens tripartite motif containing 72 (TRIM72), mRNA.	166					exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						GAGACAGTGCGTCAGTTCCGG	0.647													40	134					0	0	1	0	0	A	31230620	G	A	31230620	3	1	241	1	0	0	0	0	1	0	0	0	16542	1145	40	1	507	1	TRIM72	16	31230620	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1195249	31230620	59124133	444	10420											
C16orf58	64755	broad.mit.edu	37	chr16	31512031	31512031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaccaggcaaagacgatgCggcccagcatgccagttgaa	12	5	11	13	2	0	2	0	1	0	1	1	3	1	2	4	2	3	3	4	2	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:31512031C>T	uc002eci.2	-	2	449	c.437G>A	c.(436-438)cGc>cAc	p.R146H	C16orf58_uc010vfq.1_Missense_Mutation_p.R4H	NM_022744	NP_073581	Q96GQ5	CP058_HUMAN	Homo sapiens chromosome 16 open reading frame 58 (C16orf58), mRNA.	146						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						AAAGACGATGCGGCCCAGCAT	0.542													14	54					0	0	1	0	0	T	31512031	C	T	31512031	3	4	241	1	0	0	0	0	1	0	0	0	1822	768	27	1	1013	1	C16orf58	16	31512031	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	281411	31512031	58842722	445	10421											
CHD9	80205	broad.mit.edu	37	chr16	53190078	53190078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaggtttgtcagatgatgCatttgtacaaccaggacctg	12	11	11	7	0	1	3	1	1	0	2	1	4	1	4	2	2	3	3	2	2	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:53190078C>T	uc002ehb.3	+	0	241	c.77C>T	c.(76-78)gCa>gTa	p.A26V	CHD9_uc002egy.3_Missense_Mutation_p.A26V|CHD9_uc002egz.1_Missense_Mutation_p.A26V|CHD9_uc002ehc.3_Missense_Mutation_p.A26V	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	26					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TCAGATGATGCATTTGTACAA	0.388													6	45					0	0	1	0	0	T	53190078	C	T	53190078	3	4	241	1	0	0	0	0	1	0	0	0	3332	710	25	3	79	3	CHD9	16	53190078	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	21678047	53190078	37164675	446	10422											
CHD9	80205	broad.mit.edu	37	chr16	53260306	53260307	+	Frame_Shift_Ins	INS	-	-	A																															tcaaatcgacaaattaaaagINSaaaaaaatacgcagaagata																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:53260306_53260307insA	uc002ehb.3	+	3	2089_2090	c.1925_1926insA	c.(1924-1926)agafs	p.R642fs	CHD9_uc002egy.3_Frame_Shift_Ins_p.R642fs|CHD9_uc002egz.1_Frame_Shift_Ins_p.R642fs|CHD9_uc002ehc.3_Frame_Shift_Ins_p.R642fs|CHD9_uc002ehd.2_Frame_Shift_Ins_p.R168fs	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	642	Lys-rich.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CAAATTAAAAGAAAAAAATACG	0.292													8	28	---	---	---	---						A	53260307	-	A	53260306	7	5	241	1	0	1	1	0	0	0	0	0	3332	942	33	0	1939	0	CHD9	16	53260306	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	70228	53260306	37094447	447	10423											
LPCAT2	54947	broad.mit.edu	37	chr16	55613052	55613052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgaggatggctacataaCggaggaagagttctccacca	13	8	12	8	1	1	3	0	2	1	1	2	6	1	6	2	4	2	2	2	4	3	3	rs142090669	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:55613052C>T	uc002eie.4	+	12	1527	c.1346C>T	c.(1345-1347)aCg>aTg	p.T449M	LPCAT2_uc002eic.3_Missense_Mutation_p.T179M	NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 2 (LPCAT2), mRNA.	449	EF-hand 2.				cellular membrane organization|platelet activating factor biosynthetic process	Golgi membrane|Golgi stack|endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						GGCTACATAACGGAGGAAGAG	0.433													19	131					0	0	1	0	0	T	55613052	C	T	55613052	3	4	241	1	0	0	0	0	1	0	0	0	8911	536	19	1	1396	1	LPCAT2	16	55613052	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2352746	55613052	34741701	448	10424											
CDH5	1003	broad.mit.edu	37	chr16	66424460	66424460	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccattgagacaaacccCgcccacaacgagggcatcat	13	6	7	15	2	2	1	2	1	0	1	2	3	2	1	4	1	2	1	4	1	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:66424460C>T	uc002eom.4	+	5	1092	c.936C>T	c.(934-936)ccC>ccT	p.P312P	CDH5_uc002eon.1_Silent_p.P312P	NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	312	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		AGACAAACCCCGCCCACAACG	0.557													53	47					0	0	1	0	0	T	66424460	C	T	66424460	2	4	241	1	0	0	0	0	0	0	0	1	3113	639	23	2		2	CDH5	16	66424460	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	10811408	66424460	23930293	449	10425											
TRADD	8717	broad.mit.edu	37	chr16	67188655	67188655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcgctgcagcgtggcgCggcggccctcggcctgcacg	3	4	17	17	7	0	0	0	0	0	0	1	0	0	0	3	5	3	3	3	5	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:67188655C>T	uc002eri.1	-	4	916	c.836G>A	c.(835-837)cGc>cAc	p.R279H	TRADD_uc002erh.1_Missense_Mutation_p.R219H	NM_003789	NP_003780	Q15628	TRADD_HUMAN	Homo sapiens TNFRSF1A-associated via death domain (TRADD), mRNA.	279	Death.|Interaction with KRT14 and KRT18.				activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CAGCGTGGCGCGGCGGCCCTC	0.706													7	19					0	0	1	0	0	T	67188655	C	T	67188655	3	4	241	1	0	0	0	0	1	0	0	0	16433	768	27	1	106	1	TRADD	16	67188655	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	764195	67188655	23166098	450	10426											
SLC9A5	6553	broad.mit.edu	37	chr16	67289369	67289369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggccactgactacctgaaggGagtcggtcagtatttccccg	8	9	12	12	2	1	2	1	2	0	0	3	3	2	3	4	3	1	1	4	3	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:67289369G>A	uc002esm.3	+	3	791	c.728G>A	c.(727-729)gGa>gAa	p.G243E	SLC9A5_uc010cee.3_5'UTR|SLC9A5_uc010vji.2_5'UTR	NM_004594	NP_004585	Q14940	SL9A5_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA.	243					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TACCTGAAGGGAGTCGGTCAG	0.587													56	60					0	0	1	0	0	A	67289369	G	A	67289369	3	1	241	1	0	0	0	0	1	0	0	0	14717	1174	41	3	742	3	SLC9A5	16	67289369	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	100714	67289369	23065384	451	10427											
FAM65A	79567	broad.mit.edu	37	chr16	67572573	67572575	+	Splice_Site	DEL	AGG	AGG	-																															ctgaggacagcctctccttcAggagtttcccggtcttcagc																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:67572573_67572575delAGG	uc010vjp.2	+	3	351	c.165_splice	c.e3-1	p.R55_splice	FAM65A_uc010cei.2_Splice_Site|FAM65A_uc002eth.3_Splice_Site_p.R35_splice|FAM65A_uc010cej.3_In_Frame_Del_p.R39del|FAM65A_uc002eti.2_Intron|FAM65A_uc010vjq.2_Splice_Site_p.R49_splice|FAM65A_uc002etj.1_Splice_Site_p.R34_splice|FAM65A_uc002etk.3_Splice_Site_p.R34_splice	NM_001193523	NP_078795	Q6ZS17	FA65A_HUMAN	Homo sapiens family with sequence similarity 65, member A (FAM65A), transcript variant 3, mRNA.	39						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCTCTCCTTCAGGAGTTTCCCGG	0.66													87	91	---	---	---	---						-	67572575	AGG	-	67572573	8	5	241	1	0	1	0	1	0	0	1	0	5599	202	7	0	109	0	FAM65A	16	67572573	Splice_Site	DEL	AGG	TCGA-HT-8564-01A-11D-2395-08	283204	67572573	22782180	452	10428											
CENPT	80152	broad.mit.edu	37	chr16	67863714	67863714	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaagatgctcctggcccGtcagcctcagcagtcccctg	6	8	10	17	1	2	2	2	1	0	1	4	2	4	2	6	1	3	2	6	1	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:67863714G>A	uc002eun.4	-	11	1689	c.1140C>T	c.(1138-1140)gaC>gaT	p.D380D	CENPT_uc010vkc.2_Silent_p.D138D|CENPT_uc010vkd.1_Silent_p.D133D|CENPT_uc010vke.1_3'UTR	NM_025082	NP_079358	Q96BT3	CENPT_HUMAN	Homo sapiens centromere protein T (CENPT), mRNA.	380					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CTCCTGGCCCGTCAGCCTCAG	0.612													57	149					0	0	1	0	0	A	67863714	G	A	67863714	2	1	241	1	0	0	0	0	0	0	0	1	3242	1136	40	1		1	CENPT	16	67863714	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	291141	67863714	22491039	453	10429											
DDX19B	11269	broad.mit.edu	37	chr16	70400563	70400563	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagatgctgcttttctcCgccacctttgaagactctgt	6	14	8	13	1	2	3	0	1	2	2	3	3	2	3	4	0	3	2	4	0	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:70400563C>T	uc002eys.3	+	8	951	c.822C>T	c.(820-822)tcC>tcT	p.S274S	DDX19B_uc010cfq.1_Silent_p.S28S|DDX19B_uc010cfs.3_Silent_p.S96S|DDX19B_uc010vlz.2_Silent_p.S242S|DDX19B_uc002eyv.3_Silent_p.S273S|DDX19B_uc010cfr.3_Silent_p.S123S|DDX19B_uc010vma.2_Silent_p.S183S	NM_007242	NP_009173	Q9UMR2	DD19B_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-As) box polypeptide 19B (DDX19B), transcript variant 1, mRNA.	274	Helicase ATP-binding.				mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				TGCTTTTCTCCGCCACCTTTG	0.562													43	92					0	0	1	0	0	T	70400563	C	T	70400563	2	4	241	1	0	0	0	0	0	0	0	1	4347	639	23	2		2	DDX19B	16	70400563	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2536849	70400563	19954190	454	10430											
MARVELD3	91862	broad.mit.edu	37	chr16	71674814	71674814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcgtgatcatgtacggcGccagcgtggtgctggccctg	4	11	14	12	4	2	1	1	1	1	0	3	1	2	1	2	3	3	2	2	3	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:71674814G>A	uc002fau.3	+	2	1180	c.1117G>A	c.(1117-1119)Gcc>Acc	p.A373T	PHLPP2_uc002fav.3_Non-coding_Transcript|MARVELD3_uc010cge.3_3'UTR	NM_001017967	NP_001017967	Q96A59	MALD3_HUMAN	Homo sapiens MARVEL domain containing 3 (MARVELD3), transcript variant 1, mRNA.	376	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CATGTACGGCGCCAGCGTGGT	0.597													35	38					0	0	1	0	0	A	71674814	G	A	71674814	3	1	241	1	0	0	0	0	1	0	0	0	9319	1087	38	1	1742	1	MARVELD3	16	71674814	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1274251	71674814	18679939	455	10431											
DHX38	9785	broad.mit.edu	37	chr16	72130788	72130788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagcgaagagttttgggaaCgcagtcggcagagagagcgg	11	6	18	6	4	0	4	0	1	0	3	1	7	0	5	0	3	3	3	0	3	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:72130788C>T	uc002fcb.3	+	2	746	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	TXNL4B_uc010vmo.2_5'Flank|DHX38_uc010vmp.2_Intron|DHX38_uc010cgn.1_Non-coding_Transcript	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	131					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GTTTTGGGAACGCAGTCGGCA	0.547													148	154					0	0	1	0	0	T	72130788	C	T	72130788	3	4	241	1	0	0	0	0	1	0	0	0	4511	536	19	1	397	1	DHX38	16	72130788	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	455974	72130788	18223965	456	10432											
DHX38	9785	broad.mit.edu	37	chr16	72133711	72133711	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctactcctccgaggactaCgtgaggaggcgggagcagca	9	5	15	12	3	0	1	0	1	0	0	2	5	2	4	3	4	4	2	3	4	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:72133711C>T	uc002fcb.3	+	7	1396	c.1041C>T	c.(1039-1041)taC>taT	p.Y347Y	DHX38_uc010vmp.2_Intron|DHX38_uc010cgn.1_Non-coding_Transcript	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	347					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CCGAGGACTACGTGAGGAGGC	0.577											OREG0023926	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	31	19					0	0	1	0	0	T	72133711	C	T	72133711	2	4	241	1	0	0	0	0	0	0	0	1	4511	547	19	1		1	DHX38	16	72133711	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2923	72133711	18221042	457	10433											
ATMIN	23300	broad.mit.edu	37	chr16	81076800	81076801	+	Frame_Shift_Del	DEL	TG	TG	-																															agaaaaggaaaatggaaaacTgtgcacaaaaccagaagtta																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:81076800_81076801delTG	uc002ffz.1	+	3	715_716	c.697_698delTG	c.(697-699)tgtfs	p.C233fs	ATMIN_uc002fga.2_Frame_Shift_Del_p.C75fs|ATMIN_uc010vnn.1_Frame_Shift_Del_p.C4fs|ATMIN_uc002fgb.1_Frame_Shift_Del_p.C75fs	NM_015251	NP_056066	O43313	ATMIN_HUMAN	Homo sapiens ATM interactor (ATMIN), mRNA.	233	Required for formation of RAD51 foci.				response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AATGGAAAACTGTGCACAAAAC	0.376													22	70	---	---	---	---						-	81076801	TG	-	81076800	7	5	241	1	0	1	0	1	0	0	0	0	1110	1580	55	0	711	0	ATMIN	16	81076800	Frame_Shift_Del	DEL	TG	TCGA-HT-8564-01A-11D-2395-08	8943089	81076800	9277953	458	10434											
CDT1	81620	broad.mit.edu	37	chr16	88873762	88873762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaggagcagcggctgcagcGcttagaacggctgcctgagc	8	5	16	12	3	0	2	0	1	0	1	0	3	0	3	1	3	7	6	1	3	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:88873762G>A	uc002flu.3	+	8	1403	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H		NM_030928	NP_112190	Q9H211	CDT1_HUMAN	Homo sapiens chromatin licensing and DNA replication factor 1 (CDT1), mRNA.	450					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		CGGCTGCAGCGCTTAGAACGG	0.657													34	41					0	0	1	0	0	A	88873762	G	A	88873762	3	1	241	1	0	0	0	0	1	0	0	0	3180	1087	38	1	1383	1	CDT1	16	88873762	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	7796962	88873762	1480991	459	10435											
CBFA2T3	863	broad.mit.edu	37	chr16	88958664	88958664	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caactcaccaccaggcccagCaccagtgtgcgcacgcgctc	9	4	9	19	3	1	0	1	0	0	0	2	0	1	0	4	1	3	3	4	1	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:88958664C>T	uc002fmm.2	-	3	898	c.609G>A	c.(607-609)gtG>gtA	p.V203V	CBFA2T3_uc002fml.2_Silent_p.V117V|CBFA2T3_uc010cif.1_Silent_p.V142V|CBFA2T3_uc002fmn.2_Silent_p.V178V	NM_005187	NP_005178	O75081	MTG16_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA.	203	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|TAFH.				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V203V(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CCAGGCCCAGCACCAGTGTGC	0.627			T	RUNX1	AML								20	63					0	0	1	0	0	T	88958664	C	T	88958664	2	4	241	1	0	0	0	0	0	0	0	1	2698	697	25	3		3	CBFA2T3	16	88958664	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	84902	88958664	1396089	460	10436											
CDH15	1013	broad.mit.edu	37	chr16	89256813	89256813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgttccaggagaacccacttCggaccagcctagcagagggg	10	6	13	12	1	0	2	0	0	0	2	2	4	1	3	4	4	3	2	4	4	2	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:89256813C>T	uc002fmt.3	+	7	1218	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W		NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	381	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	p.R381Q(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GAACCCACTTCGGACCAGCCT	0.687													6	27					0	0	1	0	0	T	89256813	C	T	89256813	3	4	241	1	0	0	0	0	1	0	0	0	3100	875	31	2	1171	2	CDH15	16	89256813	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	298149	89256813	1097940	461	10437											
ANKRD11	29123	broad.mit.edu	37	chr16	89347172	89347172	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctccaggtagctgggctcCggggggatgatggcggccgt	4	7	20	10	3	0	1	0	1	0	0	2	2	2	2	3	8	1	4	3	8	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:89347172C>T	uc002fmx.1	-	8	6239	c.5778G>A	c.(5776-5778)ccG>ccA	p.P1926P	ANKRD11_uc002fmy.1_Silent_p.P1926P|ANKRD11_uc002fnc.1_Silent_p.P1926P|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Silent_p.P1883P	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1926	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AGCTGGGCTCCGGGGGGATGA	0.711													10	101					0	0	1	0	0	T	89347172	C	T	89347172	2	4	241	1	0	0	0	0	0	0	0	1	639	639	23	2		2	ANKRD11	16	89347172	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	90359	89347172	1007581	462	10438											
SPG7	6687	broad.mit.edu	37	chr16	89614459	89614459	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcgctgcacgcggcgcGggagggacacacttccgtgc	5	5	17	14	6	0	0	0	0	0	0	1	2	1	2	1	4	3	3	1	4	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:89614459G>A	uc002fnj.3	+	11	1622	c.1601G>A	c.(1600-1602)cGg>cAg	p.R534Q	SPG7_uc002fnk.1_Non-coding_Transcript|SPG7_uc002fnl.3_5'Flank	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	Homo sapiens spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	534					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CACGCGGCGCGGGAGGGACAC	0.642													49	221					0	0	1	0	0	A	89614459	G	A	89614459	3	1	241	1	0	0	0	0	1	0	0	0	15043	1116	39	2	1797	2	SPG7	16	89614459	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	267287	89614459	740294	463	10439											
SGSM2	9905	broad.mit.edu	37	chr17	2265510	2265510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacgtatgggtacgcacggCgctcatcgagaaagttctgg	10	8	13	10	5	2	1	1	0	1	1	3	2	2	1	0	3	1	5	0	3	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:2265510C>T	uc002fum.4	+	3	581	c.404C>T	c.(403-405)gCg>gTg	p.A135V	SGSM2_uc002fun.4_Missense_Mutation_p.A135V|SGSM2_uc010vqw.2_Missense_Mutation_p.A135V|SGSM2_uc021tnp.1_5'Flank	NM_014853	NP_055668	O43147	SGSM2_HUMAN	Homo sapiens small G protein signaling modulator 2 (SGSM2), transcript variant 1, mRNA.	135	RUN.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		GTACGCACGGCGCTCATCGAG	0.637													46	149					0	0	1	0	0	T	2265510	C	T	2265510	3	4	241	1	0	0	0	0	1	0	0	0	14223	768	27	1	418	1	SGSM2	17	2265510	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08		2265510	78929700	464	10440											
OR1D2	4991	broad.mit.edu	37	chr17	2995776	2995776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaagatgtagtggatttttCgtgacccacagaaggtcact	12	11	11	7	1	1	4	1	1	0	3	2	5	1	5	1	2	0	1	1	2	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:2995776C>T	uc010vrb.2	-	0	515	c.515G>A	c.(514-516)cGa>cAa	p.R172Q		NM_002548	NP_002539	P34982	OR1D2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA.	172					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GTGGATTTTTCGTGACCCACA	0.468													52	17					0	0	1	0	0	T	2995776	C	T	2995776	3	4	241	1	0	0	0	0	1	0	0	0	10953	884	31	2	426	2	OR1D2	17	2995776	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	730266	2995776	78199434	465	10441											
ZZEF1	23140	broad.mit.edu	37	chr17	3999984	3999984	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctggtttttccagtttcCgtaagaaaacctgaaaaaag	13	12	8	8	1	1	2	0	1	1	1	3	2	3	2	3	1	1	4	3	1	6	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:3999984C>T	uc002fxe.3	-	9	1747	c.1683G>A	c.(1681-1683)acG>acA	p.T561T	ZZEF1_uc002fxk.1_Silent_p.T561T	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	561							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TTCCAGTTTCCGTAAGAAAAC	0.368													89	27					0	0	1	0	0	T	3999984	C	T	3999984	2	4	241	1	0	0	0	0	0	0	0	1	18252	639	23	2		2	ZZEF1	17	3999984	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1004208	3999984	77195226	466	10442											
GGT6	124975	broad.mit.edu	37	chr17	4461802	4461802	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtcagggatgggcgccccGgagcgcagggctgcctccaa	6	4	18	13	3	1	0	1	0	0	0	2	2	2	2	4	5	2	2	4	5	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:4461802G>A	uc010vsc.2	-	3	1068	c.1008C>T	c.(1006-1008)tcC>tcT	p.S336S	GGT6_uc010vsb.2_Silent_p.S182S|GGT6_uc002fyd.4_Silent_p.S330S|GGT6_uc002fyc.4_Silent_p.S298S	NM_001122890	NP_001116362	Q6P531	GGT6_HUMAN	Homo sapiens gamma-glutamyltransferase 6 (GGT6), transcript variant 1, mRNA.	330					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TGGGCGCCCCGGAGCGCAGGG	0.692													3	13					0	0	1	0	0	A	4461802	G	A	4461802	2	1	241	1	0	0	0	0	0	0	0	1	6363	1103	39	2		2	GGT6	17	4461802	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	461818	4461802	76733408	467	10443											
CHRNE	1145	broad.mit.edu	37	chr17	4804399	4804399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgagcgagtagatgaCgtcagtctcccctgggccgt	8	9	14	10	3	2	4	1	3	1	1	3	6	2	4	3	1	1	1	3	1	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:4804399C>T	uc002fzk.1	-	6	699	c.688G>A	c.(688-690)Gtc>Atc	p.V230I	C17orf107_uc002fzl.3_3'UTR	NM_000080	NP_000071	Q04844	ACHE_HUMAN	Homo sapiens cholinergic receptor, nicotinic, epsilon (CHRNE), mRNA.	230					muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.V230F(2)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12						GAGTAGATGACGTCAGTCTCC	0.652													114	62					0	0	1	0	0	T	4804399	C	T	4804399	3	4	241	1	0	0	0	0	1	0	0	0	3395	536	19	1	817	1	CHRNE	17	4804399	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	342597	4804399	76390811	468	10444											
GPS2	2874	broad.mit.edu	37	chr17	7216932	7216935	+	Frame_Shift_Del	DEL	AGTG	AGTG	-																															agctggctgtgtgggcccatAgtgaggtgggggctgagcag																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:7216932_7216935delAGTG	uc002gfx.1	-	6	978_981	c.586_589delCACT	c.(586-591)cactatfs	p.H196fs	GPS2_uc002gfw.1_Frame_Shift_Del_p.H158fs|GPS2_uc002gfy.1_Non-coding_Transcript|GPS2_uc002gfz.1_Frame_Shift_Del_p.H196fs	NM_004489	NP_004480	Q13227	GPS2_HUMAN	Homo sapiens G protein pathway suppressor 2 (GPS2), mRNA.	196					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GTGGGCCCATAGTGAGGTGGGGGC	0.574											OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	103	38	---	---	---	---						-	7216935	AGTG	-	7216932	7	5	241	1	0	1	0	1	0	0	0	0	6733	420	15	0	414	0	GPS2	17	7216932	Frame_Shift_Del	DEL	AGTG	TCGA-HT-8564-01A-11D-2395-08	2412533	7216932	73978278	469	10445											
TP53	7157	broad.mit.edu	37	chr17	7577138	7577138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgcacctcaaagctgttcCgtcccagtagattaccacta	11	9	6	15	2	1	1	1	0	0	1	3	1	3	1	4	0	2	4	4	0	4	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:7577138C>T	uc002gim.2	-	7	994	c.800G>A	c.(799-801)cGg>cAg	p.R267Q	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R267Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R135Q|TP53_uc010cnf.1_Missense_Mutation_p.R135Q|TP53_uc002gii.1_Missense_Mutation_p.R135Q|TP53_uc010cni.1_Missense_Mutation_p.R267Q|TP53_uc010cnh.1_Missense_Mutation_p.R267Q|TP53_uc002gij.2_Missense_Mutation_p.R267Q|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.	267	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G266E(49)|p.G266R(45)|p.G266V(36)|p.R267P(32)|p.R267W(23)|p.R267Q(20)|p.G266*(13)|p.R267L(10)|p.0?(8)|p.G266fs*79(5)|p.R267R(5)|p.G262_F270delGNLLGRNSF(4)|p.G262_S269delGNLLGRNS(4)|p.G266_E271delGRNSFE(4)|p.N268fs*77(3)|p.?(3)|p.G266_N268delGRN(2)|p.G266A(2)|p.G266G(2)|p.L265_R267delLGR(2)|p.L265_K305del41(2)|p.G266fs*4(2)|p.G266T(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.G262fs*2(1)|p.R267G(1)|p.R267fs*78(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)		AAAGCTGTTCCGTCCCAGTAG	0.527		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)			40	14					0	0	1	0	0	T	7577138	C	T	7577138	3	4	241	1	0	0	0	0	1	0	0	0	16378	652	23	2	486	2	TP53	17	7577138	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	360206	7577138	73618072	470	10446											
TP53	7157	broad.mit.edu	37	chr17	7578463	7578463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggccatggcgcggacgCgggtgccgggcgggggtgtg	4	5	23	9	6	0	1	0	0	0	1	0	2	0	2	2	7	1	0	2	7	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:7578463C>T	uc002gim.2	-	4	661	c.467G>A	c.(466-468)cGc>cAc	p.R156H	TP53_uc002gig.1_Missense_Mutation_p.R156H|TP53_uc002gih.3_Missense_Mutation_p.R156H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R24H|TP53_uc010cnf.1_Missense_Mutation_p.R24H|TP53_uc002gii.1_Missense_Mutation_p.R24H|TP53_uc010cni.1_Missense_Mutation_p.R156H|TP53_uc010cnh.1_Missense_Mutation_p.R156H|TP53_uc002gij.2_Missense_Mutation_p.R156H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R63H|TP53_uc002gio.2_Missense_Mutation_p.R24H|TP53_uc010vug.2_Missense_Mutation_p.R117H	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	156	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R156P(48)|p.T155N(20)|p.R156H(20)|p.T155P(16)|p.R156fs*14(12)|p.T155I(12)|p.0?(8)|p.T155A(8)|p.R156L(6)|p.?(5)|p.T155T(5)|p.R156_I162delRVRAMAI(4)|p.T155fs*23(4)|p.R156fs*25(4)|p.R156S(3)|p.R156R(3)|p.R156G(3)|p.T155_R156delTR(2)|p.R156_A161delRVRAMA(2)|p.P151_V173del23(2)|p.R156del(2)|p.T155S(2)|p.R156_R158delRVR(2)|p.R156fs*12(2)|p.R156fs*18(2)|p.R156_A161del(2)|p.P153fs*22(2)|p.R156_V157del(2)|p.T155_A161delTRVRAMA(2)|p.G154_R156delGTR(2)|p.R156C(2)|p.T155fs*26(1)|p.T155fs*25(1)|p.D148_T155delDSTPPPGT(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.R156fs*?(1)|p.G154fs*22(1)|p.T155_R156insDSTPPPGT(1)|p.T155fs*15(1)|p.R156fs*20(1)|p.R156_V157insV(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)		GGCGCGGACGCGGGTGCCGGG	0.612		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)			72	24					0	0	1	0	0	T	7578463	C	T	7578463	3	4	241	1	0	0	0	0	1	0	0	0	16378	768	27	1	831	1	TP53	17	7578463	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1325	7578463	73616747	471	10447											
KCNAB3	9196	broad.mit.edu	37	chr17	7829255	7829255	+	Frame_Shift_Del	DEL	C	C	-																															gggcagccacttactgtcctCcccaaaaaatcttggtagtg																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:7829255delC	uc002gjm.1	-	5	488	c.488delG	c.(487-489)ggafs	p.G163fs	KCNAB3_uc010vul.1_Non-coding_Transcript	NM_004732	NP_004723	O43448	KCAB3_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 3 (KCNAB3), mRNA.	163						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				TTACTGTCCTCCCCAAAAAAT	0.498													10	201	---	---	---	---						-	7829255	C	-	7829255	7	5	241	1	0	1	0	1	0	0	0	0	8011	855	30	0	762	0	KCNAB3	17	7829255	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	250792	7829255	73365955	472	10448											
PFAS	5198	broad.mit.edu	37	chr17	8167651	8167651	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctgggcaagatgcctcGgaaggtatgtggggttgagg	7	9	20	5	1	0	2	0	1	0	1	1	3	0	3	1	7	2	4	1	7	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:8167651G>A	uc002gkr.3	+	15	2054	c.1913G>A	c.(1912-1914)cGg>cAg	p.R638Q	PFAS_uc010vuv.2_Missense_Mutation_p.R214Q|PFAS_uc010cnw.1_Missense_Mutation_p.R138Q|PFAS_uc002gks.3_5'Flank	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	638					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AAGATGCCTCGGAAGGTATGT	0.622													48	11					0	0	1	0	0	A	8167651	G	A	8167651	3	1	241	1	0	0	0	0	1	0	0	0	11754	1116	39	2	1971	2	PFAS	17	8167651	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	338396	8167651	73027559	473	10449											
MYH8	4626	broad.mit.edu	37	chr17	10299869	10299869	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggactgtgaggactcaCgttgcaagttcttattttct	8	14	12	7	1	3	1	1	1	2	0	3	4	3	4	0	3	1	3	0	3	2	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:10299869C>T	uc002gmm.2	-	32	4623	c.4528_splice	c.e32+1	p.Q1510_splice	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1510					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGAGGACTCACGTTGCAAGTT	0.463									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				33	14					0	0	1	0	0	T	10299869	C	T	10299869	5	4	241	1	0	0	0	0	0	0	1	0	10041	550	19	1	1320	1	MYH8	17	10299869	Splice_Site	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2132218	10299869	70895341	474	10450											
DNAH9	1770	broad.mit.edu	37	chr17	11660881	11660881	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggatcttgtacatcaacccGgcagacttgggatggaaccc	10	8	12	11	1	2	1	1	0	1	1	2	4	2	4	2	4	3	2	2	4	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:11660881G>A	uc002gne.3	+	34	6935	c.6867G>A	c.(6865-6867)ccG>ccA	p.P2289P	DNAH9_uc010coo.3_Silent_p.P1583P	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2289	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACATCAACCCGGCAGACTTGG	0.428													16	62					0	0	1	0	0	A	11660881	G	A	11660881	2	1	241	1	0	0	0	0	0	0	0	1	4608	1103	39	2		2	DNAH9	17	11660881	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1361012	11660881	69534329	475	10451											
DNAH9	1770	broad.mit.edu	37	chr17	11711063	11711063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttagctgccatatcaatcGcatcttggagtccccgcggg	7	11	10	13	3	2	0	1	0	1	0	4	1	3	1	3	2	2	2	3	2	3	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:11711063G>A	uc002gne.3	+	43	8503	c.8435G>A	c.(8434-8436)cGc>cAc	p.R2812H	DNAH9_uc010coo.3_Missense_Mutation_p.R2106H	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2812	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CATATCAATCGCATCTTGGAG	0.532													8	111					0	0	1	0	0	A	11711063	G	A	11711063	3	1	241	1	0	0	0	0	1	0	0	0	4608	1087	38	1	8609	1	DNAH9	17	11711063	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	50182	11711063	69484147	476	10452											
TRPV2	51393	broad.mit.edu	37	chr17	16336966	16336966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcaggtgtgatgctgaccGttggcactaagccagatggc	8	8	16	9	1	0	3	0	2	0	1	0	3	0	3	2	4	2	4	2	4	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:16336966G>A	uc002gpy.3	+	12	2467	c.2068G>A	c.(2068-2070)Gtt>Att	p.V690I	TRPV2_uc002gpz.3_Missense_Mutation_p.V260I	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 2 (TRPV2), mRNA.	690					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GATGCTGACCGTTGGCACTAA	0.592													39	145					0	0	1	0	0	A	16336966	G	A	16336966	3	1	241	1	0	0	0	0	1	0	0	0	16593	1145	40	1	2114	1	TRPV2	17	16336966	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4625903	16336966	64858244	477	10453											
ALDH3A1	218	broad.mit.edu	37	chr17	19641649	19641649	+	Frame_Shift_Del	DEL	G	G	-																															ctctcaccttggccgggctcGgggggtatctgaccttcagg																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:19641649delG	uc002gwk.3	-	7	1948	c.1685delC	c.(1684-1686)ccgfs	p.P562fs	ALDH3A1_uc010cqu.3_Frame_Shift_Del_p.P445fs|ALDH3A1_uc010vzd.2_Frame_Shift_Del_p.P445fs|ALDH3A1_uc002gwj.3_Frame_Shift_Del_p.P445fs|ALDH3A1_uc010cqv.3_Frame_Shift_Del_p.P444fs|ALDH3A1_uc002gwl.1_Frame_Shift_Del_p.P372fs			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	445					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	GGCCGGGCTCGGGGGGTATCT	0.627													139	68	---	---	---	---						-	19641649	G	-	19641649	7	5	241	1	0	1	0	1	0	0	0	0	497	1116	39	0	35	0	ALDH3A1	17	19641649	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	3304683	19641649	61553561	478	10454											
NEK8	284086	broad.mit.edu	37	chr17	27065189	27065189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagccccagttcatctcgcGtttcctggagggccagtcgg	6	9	12	14	3	2	0	1	0	1	0	5	1	3	1	4	3	1	2	4	3	0	2	rs138066977		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:27065189G>A	uc002hcp.3	+	7	1148	c.1148G>A	c.(1147-1149)cGt>cAt	p.R383H		NM_178170	NP_835464	Q86SG6	NEK8_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 8 (NEK8), mRNA.	383						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.A383A(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TTCATCTCGCGTTTCCTGGAG	0.657													18	51					0	0	1	0	0	A	27065189	G	A	27065189	3	1	241	1	0	0	0	0	1	0	0	0	10330	1145	40	1	1178	1	NEK8	17	27065189	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	7423540	27065189	54130021	479	10455											
NF1	4763	broad.mit.edu	37	chr17	29562657	29562660	+	Frame_Shift_Del	DEL	TGTT	TGTT	-																															agctcgagttctggttactcTgtttgattctcggcatttac																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:29562657_29562660delTGTT	uc002hgg.3	+	27	4120_4123	c.3737_3740delTGTT	c.(3736-3741)ctgtttfs	p.L1246fs	NF1_uc002hgh.3_Frame_Shift_Del_p.L1246fs|NF1_uc010csn.2_Frame_Shift_Del_p.L1106fs|NF1_uc002hgi.1_Frame_Shift_Del_p.L279fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1246	Ras-GAP.				MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)|p.F1247fs*16(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGGTTACTCTGTTTGATTCTCGG	0.412			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			236	87	---	---	---	---						-	29562660	TGTT	-	29562657	7	5	241	1	0	1	0	1	0	0	0	0	10356	1580	55	0	3908	0	NF1	17	29562657	Frame_Shift_Del	DEL	TGTT	TCGA-HT-8564-01A-11D-2395-08	2497468	29562657	51632553	480	10456											
FBXL20	84961	broad.mit.edu	37	chr17	37420470	37420471	+	Frame_Shift_Del	DEL	AT	AT	-																															cgtgtgatttgctggcagtcAtagagttctatccgctcaag																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:37420470_37420471delAT	uc002hrt.3	-	13	1414_1415	c.1160_1161delAT	c.(1159-1161)tatfs	p.Y387fs	FBXL20_uc010cvu.3_Frame_Shift_Del_p.Y355fs	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 20 (FBXL20), transcript variant 1, mRNA.	387						cytoplasm				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			GCTGGCAGTCATAGAGTTCTAT	0.48													166	77	---	---	---	---						-	37420471	AT	-	37420470	7	5	241	1	0	1	0	1	0	0	0	0	5717	224	8	0	157	0	FBXL20	17	37420470	Frame_Shift_Del	DEL	AT	TCGA-HT-8564-01A-11D-2395-08	7857813	37420470	43774740	481	10457											
ERBB2	2064	broad.mit.edu	37	chr17	37866098	37866098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgatgtgtaagggctccCgctgctggggagagagttct	6	10	15	10	2	1	1	0	0	1	1	3	4	3	2	2	3	1	5	2	3	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:37866098C>T	uc002hso.3	+	4	845	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	ERBB2_uc010cwa.3_Missense_Mutation_p.R188C|ERBB2_uc002hsm.3_Missense_Mutation_p.R173C|ERBB2_uc002hsp.3_Missense_Mutation_p.R6C|ERBB2_uc010cwb.3_Missense_Mutation_p.R203C|ERBB2_uc010wek.2_Intron|ERBB2_uc002hsl.3_Missense_Mutation_p.R173C|ERBB2_uc002hsn.1_Missense_Mutation_p.R203C	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	203					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of MAP kinase activity|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|ErbB-3 class receptor binding|epidermal growth factor receptor activity|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	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)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TAAGGGCTCCCGCTGCTGGGG	0.597		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			74	18					0	0	1	0	0	T	37866098	C	T	37866098	3	4	241	1	0	0	0	0	1	0	0	0	5206	652	23	2	625	2	ERBB2	17	37866098	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	445628	37866098	43329112	482	10458											
KRTAP4-11	653240	broad.mit.edu	37	chr17	39274307	39274307	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacatagactggcagcactgGggcttgcagcagctggacac	10	6	13	12	0	0	1	0	0	0	1	0	2	0	2	0	4	4	6	0	4	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:39274307G>T	uc002hvz.3	-	0	300	c.261C>A	c.(259-261)ccC>ccA	p.P87P		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	87	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.K86R(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GGCAGCACTGGGGCTTGCAGC	0.657													17	88					7.45023e-12	7.57949e-12	1	1	0	T	39274307	G	T	39274307	2	4	241	1	0	0	0	0	0	0	0	1	8549	1219	43	5		5	KRTAP4-11	17	39274307	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1408209	39274307	41920903	483	10459											
TUBG1	7283	broad.mit.edu	37	chr17	40766567	40766567	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttggccaacttcatcccGtggggccccgccagcatcca	8	7	10	16	2	1	0	1	0	0	0	3	0	3	0	6	3	2	2	6	3	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:40766567G>A	uc002ian.3	+	9	1448	c.1050G>A	c.(1048-1050)ccG>ccA	p.P350P		NM_001070	NP_001061	P23258	TBG1_HUMAN	Homo sapiens tubulin, gamma 1 (TUBG1), mRNA.	350					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		ACTTCATCCCGTGGGGCCCCG	0.652													108	25					0	0	1	0	0	A	40766567	G	A	40766567	2	1	241	1	0	0	0	0	0	0	0	1	16761	1132	40	1		1	TUBG1	17	40766567	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1492260	40766567	40428643	484	10460											
PLEKHH3	79990	broad.mit.edu	37	chr17	40820242	40820244	+	In_Frame_Del	DEL	GGA	GGA	-																															tgtctggcaggtcttggcatGgaggagaagagctgctgcag																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:40820242_40820244delGGA	uc002iau.2	-	12	2750_2752	c.2283_2285delTCC	c.(2281-2286)cctcca>cca	p.761_762PP>P	PLEKHH3_uc002iat.1_Non-coding_Transcript|PLEKHH3_uc002iav.2_Non-coding_Transcript|PLEKHH3_uc002iaw.2_3'UTR	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 (PLEKHH3), mRNA.	761					signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GTCTTGGCATGGAGGAGAAGAGC	0.65													40	15	---	---	---	---						-	40820244	GGA	-	40820242	7	5	241	1	0	1	0	1	0	0	0	0	12078	1348	47	0	100	0	PLEKHH3	17	40820242	In_Frame_Del	DEL	GGA	TCGA-HT-8564-01A-11D-2395-08	53675	40820242	40374968	485	10461											
FMNL1	752	broad.mit.edu	37	chr17	43314943	43314943	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgctggagctgctggcGgccgtgtgcttggtgcgggg	1	10	21	9	3	0	0	0	0	0	0	0	1	0	1	1	7	5	4	1	7	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:43314943G>T	uc002iin.3	+	8	1031	c.831G>T	c.(829-831)gcG>gcT	p.A277A		NM_005892	NP_005883	O95466	FMNL_HUMAN	Homo sapiens formin-like 1 (FMNL1), mRNA.	277	GBD/FH3.				actin cytoskeleton organization		Rho GTPase binding|actin binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						AGCTGCTGGCGGCCGTGTGCT	0.607													181	80					1.90661e-81	1.96135e-81	1	1	0	T	43314943	G	T	43314943	2	4	241	1	0	0	0	0	0	0	0	1	5951	1103	39	5		5	FMNL1	17	43314943	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2494701	43314943	37880267	486	10462											
ITGA3	3675	broad.mit.edu	37	chr17	48157736	48157736	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgtggaacagcaccttcatCgaggtcagtgcctgggtctg	7	10	14	10	1	3	0	2	0	1	0	4	2	3	1	2	3	3	1	2	3	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:48157736C>T	uc010dbm.3	+	21	3281	c.2817C>T	c.(2815-2817)atC>atT	p.I939I	ITGA3_uc010dbl.3_Silent_p.I939I	NM_005501	NP_005492	P26006	ITA3_HUMAN	Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) (ITGA3), transcript variant b, mRNA.	939					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GCACCTTCATCGAGGTCAGTG	0.602													11	30					0	0	1	0	0	T	48157736	C	T	48157736	2	4	241	1	0	0	0	0	0	0	0	1	7877	874	31	2		2	ITGA3	17	48157736	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4842793	48157736	33037474	487	10463											
EPN3	55040	broad.mit.edu	37	chr17	48616601	48616601	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggccaatggtgcaggggcCgtggtccaccatcagcggga	8	6	16	11	2	1	0	1	0	0	0	2	1	2	1	4	6	2	1	4	6	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:48616601C>T	uc010wms.2	+	4	1088	c.900C>T	c.(898-900)gcC>gcT	p.A300A	EPN3_uc002ira.4_Silent_p.A272A|EPN3_uc010wmt.2_Non-coding_Transcript|EPN3_uc010wmu.2_Silent_p.A245A			Q9H201	EPN3_HUMAN	Homo sapiens epsin 3 (EPN3), mRNA.	272						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			GTGCAGGGGCCGTGGTCCACC	0.607													73	24					0	0	1	0	0	T	48616601	C	T	48616601	2	4	241	1	0	0	0	0	0	0	0	1	5187	639	23	2		2	EPN3	17	48616601	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	458865	48616601	32578609	488	10464											
USP32	84669	broad.mit.edu	37	chr17	58259033	58259033	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctttgctcctccccaaagtCcgtgggctgctattagggct	5	12	10	14	1	0	0	0	0	0	0	3	0	3	0	5	2	2	4	5	2	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:58259033C>T	uc002iyo.1	-	31	4486	c.4200G>A	c.(4198-4200)cgG>cgA	p.R1400R	USP32_uc002iyn.1_Silent_p.R1070R	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	1400					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TCCCCAAAGTCCGTGGGCTGC	0.483													16	56					0	0	1	0	0	T	58259033	C	T	58259033	2	4	241	1	0	0	0	0	0	0	0	1	17060	842	30	3		3	USP32	17	58259033	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	9642432	58259033	22936177	489	10465											
ERN1	2081	broad.mit.edu	37	chr17	62144066	62144066	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctctgtctccttggggaaCgggtacttccactttgtgat	5	14	11	11	1	2	1	0	1	2	0	4	2	3	2	3	3	2	1	3	3	2	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:62144066C>T	uc002jdz.2	-	7	920	c.807G>A	c.(805-807)ccG>ccA	p.P269P		NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	269					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CCTTGGGGAACGGGTACTTCC	0.592													33	5					0	0	1	0	0	T	62144066	C	T	62144066	2	4	241	1	0	0	0	0	0	0	0	1	5237	523	19	1		1	ERN1	17	62144066	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3885033	62144066	19051144	490	10466											
BTBD17	388419	broad.mit.edu	37	chr17	72353024	72353024	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagctcacgcccgccgcGtcgccgccgctgctggccgg	3	5	15	18	8	1	0	1	0	0	0	2	1	1	1	5	3	2	3	5	3	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:72353024G>A	uc002jkn.2	-	2	1209	c.1209C>T	c.(1207-1209)gaC>gaT	p.D403D		NM_001080466	NP_001073935	A6NE02	BTBDH_HUMAN	Homo sapiens BTB (POZ) domain containing 17 (BTBD17), mRNA.	403						extracellular region				endometrium(1)|kidney(1)|lung(4)	6						CGCCCGCCGCGTCGCCGCCGC	0.771													10	4					0	0	1	0	0	A	72353024	G	A	72353024	2	1	241	1	0	0	0	0	0	0	0	1	1542	1136	40	1		1	BTBD17	17	72353024	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	10208958	72353024	8842186	491	10467											
BTBD17	388419	broad.mit.edu	37	chr17	72353354	72353354	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtgcagcggcgacgcggcGtggaactggtaggcctgcag	7	6	18	10	5	0	0	0	0	0	0	0	2	0	1	1	5	4	3	1	5	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:72353354G>A	uc002jkn.2	-	2	879	c.879C>T	c.(877-879)caC>caT	p.H293H		NM_001080466	NP_001073935	A6NE02	BTBDH_HUMAN	Homo sapiens BTB (POZ) domain containing 17 (BTBD17), mRNA.	293						extracellular region				endometrium(1)|kidney(1)|lung(4)	6						GCGACGCGGCGTGGAACTGGT	0.731													16	3					0	0	1	0	0	A	72353354	G	A	72353354	2	1	241	1	0	0	0	0	0	0	0	1	1542	1136	40	1		1	BTBD17	17	72353354	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	330	72353354	8841856	492	10468											
QRICH2	84074	broad.mit.edu	37	chr17	74289330	74289330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgatattacacatccaCgctgatccatgccaagtggt	10	11	8	12	1	0	2	0	2	0	0	2	2	2	2	4	1	3	1	4	1	3	2	rs151086130	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:74289330C>T	uc002jrd.1	-	3	1160	c.980G>A	c.(979-981)cGt>cAt	p.R327H	QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	327							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TACACATCCACGCTGATCCAT	0.498													147	54					0	0	1	0	0	T	74289330	C	T	74289330	3	4	241	1	0	0	0	0	1	0	0	0	12880	536	19	1	4075	1	QRICH2	17	74289330	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1935976	74289330	6905880	493	10469											
MGAT5B	146664	broad.mit.edu	37	chr17	74878237	74878237	+	Frame_Shift_Del	DEL	G	G	-																															cacactctgcccacagtgatGgggggccccgagtcccgcgg																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:74878237delG	uc002jti.3	+	1	322	c.219delG	c.(217-219)atgfs	p.M73fs	MGAT5B_uc002jtg.4_Frame_Shift_Del_p.M62fs|MGAT5B_uc002jth.3_Frame_Shift_Del_p.M62fs	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	62						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCACAGTGATGGGGGGCCCCG	0.662													7	79	---	---	---	---						-	74878237	G	-	74878237	7	5	241	1	0	1	0	1	0	0	0	0	9549	1348	47	0	297	0	MGAT5B	17	74878237	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	588907	74878237	6316973	494	10470											
DNAH17	8632	broad.mit.edu	37	chr17	76558007	76558007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgactgaatacctgggcGccacctcggcaagaatcagg	11	6	12	12	2	1	3	1	2	0	1	2	3	1	3	3	3	1	2	3	3	4	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:76558007G>A	uc010dhp.2	-	11	1750	c.1625C>T	c.(1624-1626)gCg>gTg	p.A542V	DNAH17_uc002jvv.2_Missense_Mutation_p.A244V	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)			ATACCTGGGCGCCACCTCGGC	0.587													60	9					0	0	1	0	0	A	76558007	G	A	76558007	3	1	241	1	0	0	0	0	1	0	0	0	4601	1087	38	1	12043	1	DNAH17	17	76558007	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1679770	76558007	4637203	495	10471											
SLC38A10	124565	broad.mit.edu	37	chr17	79256073	79256073	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgttccgctgcaggctgagCgggagcacgatgcacagcga	9	6	15	11	4	0	1	0	1	0	0	1	4	1	2	1	2	5	6	1	2	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:79256073C>T	uc002jzz.1	-	4	792	c.417G>A	c.(415-417)ccG>ccA	p.P139P	SLC38A10_uc002jzy.1_Silent_p.P57P|SLC38A10_uc002kab.3_Silent_p.P139P	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	139					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCAGGCTGAGCGGGAGCACGA	0.662													10	58					0	0	1	0	0	T	79256073	C	T	79256073	2	4	241	1	0	0	0	0	0	0	0	1	14602	755	27	1		1	SLC38A10	17	79256073	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2698066	79256073	1939137	496	10472											
HGS	9146	broad.mit.edu	37	chr17	79660715	79660717	+	In_Frame_Del	DEL	AGG	AGG	-																															gagggacgagacggccctgcAggaggaggaggagctgcagc																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:79660715_79660717delAGG	uc002kbg.3	+	9	908_910	c.773_775delAGG	c.(772-777)caggag>cag	p.E262del		NM_004712	NP_004703	O14964	HGS_HUMAN	Homo sapiens hepatocyte growth factor-regulated tyrosine kinase substrate (HGS), mRNA.	262	Interaction with SNX1 (By similarity).				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of JAK-STAT cascade|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			ACGGCCCTGCAGGAGGAGGAGGA	0.729													6	5	---	---	---	---						-	79660717	AGG	-	79660715	7	5	241	1	0	1	0	1	0	0	0	0	7087	188	7	0	811	0	HGS	17	79660715	In_Frame_Del	DEL	AGG	TCGA-HT-8564-01A-11D-2395-08	404642	79660715	1534495	497	10473											
EPB41L3	23136	broad.mit.edu	37	chr18	5423406	5423406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctgcgagacatggtataaCgtttgctggatgagcgttca	10	11	13	7	3	1	2	1	1	0	1	1	4	1	3	0	2	5	5	0	2	2	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:5423406C>T	uc002kmt.1	-	10	1396	c.1310G>A	c.(1309-1311)cGt>cAt	p.R437H	EPB41L3_uc010wzh.1_Missense_Mutation_p.R437H|EPB41L3_uc002kmu.1_Missense_Mutation_p.R437H|EPB41L3_uc010dkq.1_Missense_Mutation_p.R328H|EPB41L3_uc010dkr.2_5'UTR	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	437	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CATGGTATAACGTTTGCTGGA	0.478													32	26					0	0	1	0	0	T	5423406	C	T	5423406	3	4	241	1	0	0	0	0	1	0	0	0	5154	536	19	1	2001	1	EPB41L3	18	5423406	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08		5423406	72653842	498	10474											
NPC1	4864	broad.mit.edu	37	chr18	21114452	21114452	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcttccgcgcgctccacGcggctgcctttcatgctcac	3	10	9	19	5	3	0	2	0	1	0	5	0	5	0	4	1	2	3	4	1	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:21114452G>A	uc002kum.4	-	22	3823	c.3549C>T	c.(3547-3549)cgC>cgT	p.R1183R	NPC1_uc010dlu.1_5'Flank|NPC1_uc010xaz.2_Silent_p.R916R	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	1183					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CGCGCTCCACGCGGCTGCCTT	0.587													26	19					0	0	1	0	0	A	21114452	G	A	21114452	2	1	241	1	0	0	0	0	0	0	0	1	10570	1074	38	1		1	NPC1	18	21114452	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	15691046	21114452	56962796	499	10475											
RNF125	54941	broad.mit.edu	37	chr18	29648291	29648291	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taattgaggaagctcttatcCgaagagtcttagaccggtca	12	11	10	8	2	3	3	1	1	2	2	4	5	4	4	2	2	1	1	2	2	5	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:29648291C>T	uc002kxf.1	+	5	1025	c.643C>T	c.(643-645)Cga>Tga	p.R215*		NM_017831	NP_060301	Q96EQ8	RN125_HUMAN	Homo sapiens ring finger protein 125 (RNF125), mRNA.	215					negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						AGCTCTTATCCGAAGAGTCTT	0.338													30	26					0	0	1	0	0	T	29648291	C	T	29648291	4	4	241	1	0	0	0	0	0	1	0	0	13434	644	23	2	665	2	RNF125	18	29648291	Nonsense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	8533839	29648291	48428957	500	10476											
ZNF516	9658	broad.mit.edu	37	chr18	74153957	74153957	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtggatggcattgtgggCgttcaagctgtccaggtttg	5	12	17	7	2	1	0	1	0	0	0	2	1	2	1	1	5	1	4	1	5	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:74153957C>T	uc021ulp.1	-	2	1372	c.1054G>A	c.(1054-1056)Gcc>Acc	p.A352T		NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCATTGTGGGCGTTCAAGCTG	0.657													22	13					0	0	1	0	0	T	74153957	C	T	74153957	3	4	241	1	0	0	0	0	1	0	0	0	17957	768	27	1	2458	1	ZNF516	18	74153957	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	44505666	74153957	3923291	501	10477											
ADNP2	22850	broad.mit.edu	37	chr18	77896426	77896426	+	Frame_Shift_Del	DEL	A	A	-																															agattttagcattagatcctAaaaaatatgaaggccgttct																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:77896426delA	uc002lnw.3	+	3	3585	c.3130delA	c.(3130-3132)aaafs	p.K1044fs		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	1044					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ATTAGATCCTAAAAAATATGA	0.358													34	29	---	---	---	---						-	77896426	A	-	77896426	7	5	241	1	0	1	0	1	0	0	0	0	324	363	13	0	3140	0	ADNP2	18	77896426	Frame_Shift_Del	DEL	A	TCGA-HT-8564-01A-11D-2395-08	3742469	77896426	180822	502	10478											
PALM	5064	broad.mit.edu	37	chr19	746408	746408	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagggtccacggccggggCggcagagacccggggggctg	5	2	22	12	4	0	1	0	0	0	1	1	2	1	1	3	9	0	3	3	9	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:746408C>T	uc002lpm.1	+	8	952	c.758C>T	c.(757-759)gCg>gTg	p.A253V	PALM_uc002lpn.1_Missense_Mutation_p.A209V|PALM_uc010xfu.1_Missense_Mutation_p.A118V	NM_002579	NP_002570	O75781	PALM_HUMAN	Homo sapiens paralemmin (PALM), transcript variant 1, mRNA.	253					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)|Lung(535;0.201)		ACGGCCGGGGCGGCAGAGACC	0.726													18	35					0	0	1	0	0	T	746408	C	T	746408	3	4	241	1	0	0	0	0	1	0	0	0	11408	768	27	1	792	1	PALM	19	746408	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08		746408	58382575	503	10479											
SHD	56961	broad.mit.edu	37	chr19	4290594	4290594	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagggtgccgagcatctGgctctgctgtaccccgtggt	4	10	15	12	2	2	0	0	0	2	0	2	1	2	0	3	3	5	5	3	3	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:4290594G>A	uc002lzw.2	+	5	2450	c.987G>A	c.(985-987)ctG>ctA	p.L329L		NM_020209	NP_064594	Q96IW2	SHD_HUMAN	Homo sapiens Src homology 2 domain containing transforming protein D (SHD), mRNA.	329	SH2.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGAGCATCTGGCTCTGCTGT	0.662													36	86					0	0	1	0	0	A	4290594	G	A	4290594	2	1	241	1	0	0	0	0	0	0	0	1	14275	1335	47	3		3	SHD	19	4290594	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3544186	4290594	54838389	504	10480											
PTPRS	5802	broad.mit.edu	37	chr19	5244109	5244109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagtagacgcggtagccgCggatcaggccgttgggctcc	6	8	16	11	5	1	1	1	0	0	1	2	2	2	2	3	4	1	5	3	4	3	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:5244109C>T	uc002mbv.3	-	10	1607	c.1373G>A	c.(1372-1374)cGc>cAc	p.R458H	PTPRS_uc002mbu.1_Missense_Mutation_p.R445H|PTPRS_uc010xin.2_Missense_Mutation_p.R445H|PTPRS_uc002mbw.3_Missense_Mutation_p.R445H|PTPRS_uc002mbx.3_Missense_Mutation_p.R449H|PTPRS_uc002mby.3_Missense_Mutation_p.R445H	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	458	Fibronectin type-III 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R458R(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GCGGTAGCCGCGGATCAGGCC	0.682													34	163					0	0	1	0	0	T	5244109	C	T	5244109	3	4	241	1	0	0	0	0	1	0	0	0	12811	768	27	1	4585	1	PTPRS	19	5244109	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	953515	5244109	53884874	505	10481											
DUS3L	56931	broad.mit.edu	37	chr19	5786850	5786850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgctcccgagagcggcCgtggagctgggggagaagcc	6	4	19	12	4	0	2	0	0	0	2	1	5	1	3	3	4	4	3	3	4	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:5786850C>T	uc002mdc.3	-	8	1493	c.1396G>A	c.(1396-1398)Ggc>Agc	p.G466S	PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.3_Missense_Mutation_p.G224S	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	Homo sapiens dihydrouridine synthase 3-like (S. cerevisiae) (DUS3L), transcript variant 1, mRNA.	466					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CGAGAGCGGCCGTGGAGCTGG	0.642													11	20					0	0	1	0	0	T	5786850	C	T	5786850	3	4	241	1	0	0	0	0	1	0	0	0	4807	652	23	2	576	2	DUS3L	19	5786850	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	542741	5786850	53342133	506	10482											
VAV1	7409	broad.mit.edu	37	chr19	6772867	6772867	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctcatccagtgccgggtgCtgccgcccagccaccgcgtg	4	6	14	17	4	1	0	1	0	0	0	2	0	2	0	6	2	4	2	6	2	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:6772867C>G	uc002mfu.1	+	0	146	c.49C>G	c.(49-51)Ctg>Gtg	p.L17V	VAV1_uc010xjh.1_Missense_Mutation_p.L17V|VAV1_uc010dva.1_Missense_Mutation_p.L17V	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	17	CH.				T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GTGCCGGGTGCTGCCGCCCAG	0.677													15	80					0	0	1	0	0	G	6772867	C	G	6772867	3	3	241	1	0	0	0	0	1	0	0	0	17128	796	28	5	51	5	VAV1	19	6772867	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	986017	6772867	52356116	507	10483											
MCOLN1	57192	broad.mit.edu	37	chr19	7594070	7594072	+	In_Frame_Del	DEL	CTT	CTT	-																															ggcgtgatccgctacctgacCttcttccacaactacaatgt																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:7594070_7594072delCTT	uc002mgo.3	+	9	1359_1361	c.1218_1220delCTT	c.(1216-1221)accttc>acc	p.F408del	MCOLN1_uc002mgp.3_In_Frame_Del_p.F373del	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	Homo sapiens mucolipin 1 (MCOLN1), mRNA.	408			Missing (in MLIV; mild psychomotor involvement; does not affect channel activity; affects channel inhibition by low pH; still localizes to late endosomes).		calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTACCTGACCTTCTTCCACAAC	0.581													21	83	---	---	---	---						-	7594072	CTT	-	7594070	7	5	241	1	0	1	0	1	0	0	0	0	9395	668	24	0	1256	0	MCOLN1	19	7594070	In_Frame_Del	DEL	CTT	TCGA-HT-8564-01A-11D-2395-08	821203	7594070	51534913	508	10484											
PNPLA6	10908	broad.mit.edu	37	chr19	7619474	7619474	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggctgtcagggtggctggcCcagcaggaggatgcacaccg	7	5	17	12	2	1	0	1	0	0	0	1	2	1	2	2	6	2	4	2	6	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:7619474C>T	uc010xjq.2	+	22	2769	c.2529C>T	c.(2527-2529)gcC>gcT	p.A843A	PNPLA6_uc002mgq.2_Silent_p.A795A|PNPLA6_uc010xjp.2_Silent_p.A768A|PNPLA6_uc002mgr.2_Silent_p.A795A|PNPLA6_uc002mgs.3_Silent_p.A833A	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	834					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GGTGGCTGGCCCAGCAGGAGG	0.652													26	76					0	0	1	0	0	T	7619474	C	T	7619474	2	4	241	1	0	0	0	0	0	0	0	1	12169	610	22	3		3	PNPLA6	19	7619474	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	25404	7619474	51509509	509	10485											
FBN3	84467	broad.mit.edu	37	chr19	8188415	8188415	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcagtggaagctgcccacCgtgtttctgcaggtaccgtg	6	9	14	12	3	1	0	0	0	1	0	1	1	1	1	3	2	4	5	3	2	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:8188415C>T	uc002mjf.3	-	22	3032	c.3015G>A	c.(3013-3015)acG>acA	p.T1005T		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1005	EGF-like 12; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGCTGCCCACCGTGTTTCTGC	0.607													40	35					0	0	1	0	0	T	8188415	C	T	8188415	2	4	241	1	0	0	0	0	0	0	0	1	5704	639	23	2		2	FBN3	19	8188415	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	568941	8188415	50940568	510	10486											
FBN3	84467	broad.mit.edu	37	chr19	8201185	8201185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaggggctgctggtgcattCgtctacatctgaggggagag	7	9	17	8	1	2	2	0	1	2	1	3	3	2	2	0	5	3	4	0	5	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:8201185C>T	uc002mjf.3	-	10	1371	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	452	EGF-like 4; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CTGGTGCATTCGTCTACATCT	0.677													37	103					0	0	1	0	0	T	8201185	C	T	8201185	3	4	241	1	0	0	0	0	1	0	0	0	5704	893	31	2	7287	2	FBN3	19	8201185	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	12770	8201185	50927798	511	10487											
MYO1F	4542	broad.mit.edu	37	chr19	8601249	8601249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttcgtccccacgccaccGcggccacgtctcgggggtca	4	6	13	18	7	2	0	1	0	1	0	5	0	3	0	5	3	0	1	5	3	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:8601249G>A	uc002mkg.3	-	18	2068	c.1930C>T	c.(1930-1932)Cgg>Tgg	p.R644W		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	644	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CCACGCCACCGCGGCCACGTC	0.647													59	78					0	0	1	0	0	A	8601249	G	A	8601249	3	1	241	1	0	0	0	0	1	0	0	0	10073	1086	38	1	1406	1	MYO1F	19	8601249	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	400064	8601249	50527734	512	10488											
ZNF559	84527	broad.mit.edu	37	chr19	9453655	9453655	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcggtccacatatcttattCgacatctaagaagtcatagt	12	13	6	10	2	3	1	1	0	2	1	6	2	4	1	1	1	0	0	1	1	5	5	rs147456906	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:9453655C>T	uc002mle.4	+	5	2127	c.1720C>T	c.(1720-1722)Cga>Tga	p.R574*	ZNF559_uc002mld.3_3'UTR|ZNF559_uc021uoj.1_Nonsense_Mutation_p.R468*|ZNF559_uc010xkn.2_Nonsense_Mutation_p.R502*|ZNF559_uc021uok.1_Nonsense_Mutation_p.R510*|ZNF559_uc021uol.1_3'UTR|ZNF559_uc010dwk.2_3'UTR|ZNF559_uc002mlf.3_3'UTR|ZNF559_uc010dwl.2_3'UTR|ZNF559_uc021uom.1_3'UTR|ZNF177_uc002mli.3_Intron|ZNF177_uc002mlj.3_Intron	NM_001202406	NP_001189335	Q9BR84	ZN559_HUMAN	Homo sapiens zinc finger protein 559 (ZNF559), transcript variant 1, mRNA.	510					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						ATATCTTATTCGACATCTAAG	0.438													35	90					0	0	1	0	0	T	9453655	C	T	9453655	4	4	241	1	0	0	0	0	0	1	0	0	17987	876	31	2	1542	2	ZNF559	19	9453655	Nonsense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	852406	9453655	49675328	513	10489											
ZGLP1	100125288	broad.mit.edu	37	chr19	10419252	10419252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaagggcagtggggtcacGttttcttgggtgactcctgg	6	11	17	7	1	2	2	1	1	1	1	3	3	3	2	1	5	0	2	1	5	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:10419252G>A	uc002mnw.4	-	0	982	c.106C>T	c.(106-108)Cgt>Tgt	p.R36C	FDX1L_uc002mnx.1_Intron	NM_001103167	NP_001096637	P0C6A0	ZGLP1_HUMAN	Homo sapiens zinc finger, GATA-like protein 1 (ZGLP1), mRNA.	36					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						GTGGGGTCACGTTTTCTTGGG	0.617													12	23					0	0	1	0	0	A	10419252	G	A	10419252	3	1	241	1	0	0	0	0	1	0	0	0	17670	1145	40	1	725	1	ZGLP1	19	10419252	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	965597	10419252	48709731	514	10490											
CNN1	1264	broad.mit.edu	37	chr19	11660568	11660568	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccagagctgggtgagccCgcccacaaccaccacgcaca	11	3	9	18	2	0	2	0	1	0	1	0	2	0	2	5	1	4	2	5	1	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:11660568C>T	uc002msc.1	+	6	1016	c.852C>T	c.(850-852)ccC>ccT	p.P284P	CNN1_uc010xmb.1_Silent_p.P234P|CNN1_uc010xmc.1_Silent_p.P234P	NM_001299	NP_001290	P51911	CNN1_HUMAN	Homo sapiens calponin 1, basic, smooth muscle (CNN1), mRNA.	284					actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						TGGGTGAGCCCGCCCACAACC	0.632													27	133					0	0	1	0	0	T	11660568	C	T	11660568	2	4	241	1	0	0	0	0	0	0	0	1	3609	639	23	2		2	CNN1	19	11660568	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1241316	11660568	47468415	515	10491											
ZNF844	284391	broad.mit.edu	37	chr19	12186611	12186611	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acactggagagaaaccatatAaatgtaaacaatgtggtaaa	20	8	8	5	0	0	1	0	0	0	1	0	3	0	2	1	2	2	2	1	2	9	4	rs7259684	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:12186611A>G	uc002mtb.2	+	3	819	c.676A>G	c.(676-678)Aaa>Gaa	p.K226E	ZNF844_uc010dym.1_Missense_Mutation_p.K69E	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	226			K -> E (in dbSNP:rs7259684).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAAACCATATAAATGTAAACA	0.373													3	24					0	0	1	0	0	G	12186611	A	G	12186611	3	3	241	1	0	0	0	0	1	0	0	0	18187	363	13	3	690	3	ZNF844	19	12186611	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	526043	12186611	46942372	516	10492											
MAN2B1	4125	broad.mit.edu	37	chr19	12768302	12768302	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaagctggcgcgcgtagtcGttggccacgtgctggcggga	5	7	18	11	6	0	0	0	0	0	0	1	1	0	1	1	4	2	5	1	4	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:12768302G>A	uc002mub.2	-	10	1453	c.1377C>T	c.(1375-1377)aaC>aaT	p.N459N	MAN2B1_uc010dyv.1_Silent_p.N458N	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	459					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCGCGTAGTCGTTGGCCACGT	0.682													4	3					0	0	1	0	0	A	12768302	G	A	12768302	2	1	241	1	0	0	0	0	0	0	0	1	9216	1136	40	1		1	MAN2B1	19	12768302	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	581691	12768302	46360681	517	10493											
TNPO2	30000	broad.mit.edu	37	chr19	12817117	12817117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaaggcaaagacaagggtgtCcaggatgtagctgaggtagg	14	6	16	5	0	0	2	0	1	0	1	1	3	1	3	1	5	1	4	1	5	5	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:12817117C>T	uc002mup.3	-	12	2299	c.1837G>A	c.(1837-1839)Gac>Aac	p.D613N	TNPO2_uc002muq.3_Missense_Mutation_p.D521N|TNPO2_uc002muo.3_Missense_Mutation_p.D521N|TNPO2_uc002mur.3_Missense_Mutation_p.D521N	NM_013433	NP_038461	O14787	TNPO2_HUMAN	Homo sapiens transportin 2 (TNPO2), transcript variant 2, mRNA.	521					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACAAGGGTGTCCAGGATGTAG	0.587													19	72					0	0	1	0	0	T	12817117	C	T	12817117	3	4	241	1	0	0	0	0	1	0	0	0	16333	855	30	3	1176	3	TNPO2	19	12817117	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	48815	12817117	46311866	518	10494											
SLC1A6	6511	broad.mit.edu	37	chr19	15072860	15072860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatagcctcattgaggctgtCgaagaagtccctgaggactc	11	9	11	10	1	1	3	1	2	0	1	4	5	2	4	2	2	1	1	2	2	4	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:15072860C>T	uc002naa.1	-	4	896	c.889G>A	c.(889-891)Gac>Aac	p.D297N	SLC1A6_uc010dzu.1_Missense_Mutation_p.D297N|SLC1A6_uc010xod.1_Missense_Mutation_p.D233N|SLC1A6_uc002nab.3_Missense_Mutation_p.D297N|SLC1A6_uc002nac.3_Missense_Mutation_p.D297N	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	297					synaptic transmission	integral to plasma membrane|membrane fraction	L-aspartate transmembrane transporter activity|high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TTGAGGCTGTCGAAGAAGTCC	0.572													75	101					0	0	1	0	0	T	15072860	C	T	15072860	3	4	241	1	0	0	0	0	1	0	0	0	14436	884	31	2	825	2	SLC1A6	19	15072860	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2255743	15072860	44056123	519	10495											
PGLYRP2	114770	broad.mit.edu	37	chr19	15580456	15580456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactcaccgcggtgaagtgcGgccaggtgcgcagcaggtcg	7	5	17	12	5	1	1	1	1	0	0	2	2	1	1	2	4	3	2	2	4	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:15580456G>A	uc002nbg.3	-	3	1761	c.1628C>T	c.(1627-1629)cCg>cTg	p.P543L	PGLYRP2_uc002nbf.4_Missense_Mutation_p.P543L	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	543					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGTGAAGTGCGGCCAGGTGCG	0.721													12	13					0	0	1	0	0	A	15580456	G	A	15580456	3	1	241	1	0	0	0	0	1	0	0	0	11794	1116	39	2	110	2	PGLYRP2	19	15580456	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	507596	15580456	43548527	520	10496											
OR10H1	26539	broad.mit.edu	37	chr19	15918656	15918656	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctcggagacggagagggcGcacaggaagaggtacatggg	12	4	18	7	3	1	3	0	0	1	3	2	6	1	4	0	6	1	2	0	6	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:15918656G>A	uc002nbq.2	-	0	281	c.192C>T	c.(190-192)tgC>tgT	p.C64C		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						CGGAGAGGGCGCACAGGAAGA	0.642													53	118					0	0	1	0	0	A	15918656	G	A	15918656	2	1	241	1	0	0	0	0	0	0	0	1	10905	1079	38	1		1	OR10H1	19	15918656	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	338200	15918656	43210327	521	10497											
KCNN1	3780	broad.mit.edu	37	chr19	18092920	18092920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcatcgcagcctggaccGtgcgcgtctgcgagaggtgc	6	7	16	12	5	2	1	1	0	1	1	3	4	2	3	2	3	4	1	2	3	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:18092920G>A	uc002nht.3	+	4	1211	c.901G>A	c.(901-903)Gtg>Atg	p.V301M	KCNN1_uc010xqa.1_Missense_Mutation_p.V301M	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 (KCNN1), mRNA.	301					synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						AGCCTGGACCGTGCGCGTCTG	0.652													12	7					0	0	1	0	0	A	18092920	G	A	18092920	3	1	241	1	0	0	0	0	1	0	0	0	8078	1145	40	1	911	1	KCNN1	19	18092920	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2174264	18092920	41036063	522	10498											
TSSK6	83983	broad.mit.edu	37	chr19	19625703	19625703	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggagcacctcgggtgaCgcgtaggcggctgagccgca	7	4	16	14	5	0	2	0	2	0	0	1	3	0	3	3	4	2	4	3	4	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:19625703C>T	uc002nmr.3	-	0	767	c.534G>A	c.(532-534)gcG>gcA	p.A178A	TSSK6_uc002nmq.3_Non-coding_Transcript|YJEFN3_uc021uqu.1_5'Flank|YJEFN3_uc021uqv.1_5'Flank|YJEFN3_uc021uqw.1_5'Flank	NM_032037	NP_114426	Q9BXA6	TSSK6_HUMAN	Homo sapiens testis-specific serine kinase 6 (TSSK6), mRNA.	178	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						CCTCGGGTGACGCGTAGGCGG	0.662													8	48					0	0	1	0	0	T	19625703	C	T	19625703	2	4	241	1	0	0	0	0	0	0	0	1	16669	523	19	1		1	TSSK6	19	19625703	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1532783	19625703	39503280	523	10499											
CILP2	148113	broad.mit.edu	37	chr19	19655182	19655182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggcccgggtgacgttcGtggacccccgagacctcacc	6	6	14	15	4	1	2	1	1	0	1	2	5	1	4	5	4	0	1	5	4	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:19655182G>A	uc002nmw.4	+	7	1931	c.1846G>A	c.(1846-1848)Gtg>Atg	p.V616M	CILP2_uc002nmv.4_Missense_Mutation_p.V610M	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	610						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GGTGACGTTCGTGGACCCCCG	0.692													77	175					0	0	1	0	0	A	19655182	G	A	19655182	3	1	241	1	0	0	0	0	1	0	0	0	3430	1145	40	1	1858	1	CILP2	19	19655182	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	29479	19655182	39473801	524	10500											
CD22	933	broad.mit.edu	37	chr19	35823774	35823774	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtggtcagctggggctgaGgatggagtccaagactgaga	10	7	17	7	0	1	3	1	2	0	2	2	6	2	5	1	5	1	2	1	5	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:35823774G>T	uc010edt.3	+	2	443	c.359G>T	c.(358-360)aGg>aTg	p.R120M	CD22_uc010edu.3_Missense_Mutation_p.R120M|CD22_uc010edv.3_Missense_Mutation_p.R120M|CD22_uc002nzb.4_Missense_Mutation_p.R120M|CD22_uc010xst.2_5'UTR	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	120	Ig-like V-type.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CTGGGGCTGAGGATGGAGTCC	0.542													18	71					0.000132079	0.00013249	1	1	0	T	35823774	G	T	35823774	3	4	241	1	0	0	0	0	1	0	0	0	2985	1000	35	5	365	5	CD22	19	35823774	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	16168592	35823774	23305209	525	10501											
MLL2	8085	broad.mit.edu	37	chr19	36216664	36216664	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgccatgcataccaccCggcctgtctggggcccagct	5	7	11	18	2	1	0	0	0	1	0	1	0	1	0	6	3	4	2	6	3	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:36216664C>T	uc021usv.1	+	12	3830	c.3830C>T	c.(3829-3831)cCg>cTg	p.P1277L	MLL2_uc021usu.1_Missense_Mutation_p.P91L	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	1454					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GCATACCACCCGGCCTGTCTG	0.602			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			4	12					0	0	1	0	0	T	36216664	C	T	36216664	3	4	241	1	0	0	0	0	1	0	0	0	9621	652	23	2		2	MLL2	19	36216664	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	392890	36216664	22912319	526	10502											
GGN	199720	broad.mit.edu	37	chr19	38876366	38876366	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagccgcgggtgcgggcgcGgacacaggcggcgagggctc	5	2	21	13	7	0	0	0	0	0	0	1	2	0	1	1	6	2	2	1	6	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:38876366G>A	uc002oij.1	-	2	1671	c.1536C>T	c.(1534-1536)tcC>tcT	p.S512S	GGN_uc002oik.1_Intron|GGN_uc010efy.1_Silent_p.S429S	NM_152657	NP_689870	Q86UU5	GGN_HUMAN	Homo sapiens gametogenetin (GGN), mRNA.	512	Interactions with ZNF403/GGNBP2 and OAZ3 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			gtgcgggcgcggacacaggcg	0.746													28	26					0	0	1	0	0	A	38876366	G	A	38876366	2	1	241	1	0	0	0	0	0	0	0	1	6358	1103	39	2		2	GGN	19	38876366	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2659702	38876366	20252617	527	10503											
RYR1	6261	broad.mit.edu	37	chr19	38974156	38974156	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacatccccgaggagaaccGgtcagggccagcccagctat	10	4	12	15	2	1	1	1	0	0	1	2	3	2	1	5	3	3	2	5	3	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:38974156G>A	uc002oit.3	+	33	5064	c.4934_splice	c.e33+1	p.R1645_splice	RYR1_uc002oiu.3_Splice_Site_p.R1645_splice	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1645	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAGGAGAACCGGTCAGGGCCA	0.687													5	5					0	0	1	0	0	A	38974156	G	A	38974156	5	1	241	1	0	0	0	0	0	0	1	0	13768	1130	39	2	5064	2	RYR1	19	38974156	Splice_Site	SNP	G	TCGA-HT-8564-01A-11D-2395-08	97790	38974156	20154827	528	10504											
LGALS4	3960	broad.mit.edu	37	chr19	39299582	39299582	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcccaaccacaaagttcacGaagaacctggcgggacacaa	15	4	9	13	2	1	1	1	0	0	1	1	3	1	2	3	2	3	1	3	2	5	1	rs140167180		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:39299582G>A	uc002ojg.3	-	2	355	c.141C>T	c.(139-141)ttC>ttT	p.F47F	LGALS4_uc010xuj.2_Silent_p.F47F	NM_006149	NP_006140	P56470	LEG4_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 4 (LGALS4), mRNA.	47	Galectin 1.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CAAAGTTCACGAAGAACCTGG	0.642													7	19					0	0	1	0	0	A	39299582	G	A	39299582	2	1	241	1	0	0	0	0	0	0	0	1	8745	1049	37	2		2	LGALS4	19	39299582	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	325426	39299582	19829401	529	10505											
NCCRP1	342897	broad.mit.edu	37	chr19	39691350	39691350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagcctggtgggctgcggcGgacacgggtgaccgactcct	5	6	18	12	4	0	1	0	1	0	0	1	4	1	3	3	6	2	1	3	6	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:39691350G>A	uc002okq.1	+	5	801	c.782G>A	c.(781-783)cGg>cAg	p.R261Q		NM_001001414	NP_001001414	Q6ZVX7	NCRP1_HUMAN	Homo sapiens non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) (NCCRP1), mRNA.	261	FBA.				protein catabolic process			p.R260R(1)		kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						GGGCTGCGGCGGACACGGGTG	0.632													196	246					0	0	1	0	0	A	39691350	G	A	39691350	3	1	241	1	0	0	0	0	1	0	0	0	10213	1116	39	2	804	2	NCCRP1	19	39691350	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	391768	39691350	19437633	530	10506											
PRX	57716	broad.mit.edu	37	chr19	40913824	40913824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcactcacctcggcactccGgctcctggcctccatggcgt	4	8	11	18	3	1	0	1	0	0	0	5	0	4	0	5	5	0	3	5	5	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:40913824G>A	uc002onr.3	-	3	285	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W	PRX_uc002ons.3_Missense_Mutation_p.R6W	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	6					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCGGCACTCCGGCTCCTGGCC	0.627													23	62					0	0	1	0	0	A	40913824	G	A	40913824	3	1	241	1	0	0	0	0	1	0	0	0	12642	1115	39	2	4448	2	PRX	19	40913824	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1222474	40913824	18215159	531	10507											
LYPD4	147719	broad.mit.edu	37	chr19	42343292	42343292	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccagccccacaggacataCgaggcagagtggagatggcc	12	4	13	12	1	0	2	0	0	0	2	1	5	1	3	4	4	2	1	4	4	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:42343292C>T	uc002orp.1	-	2	1051	c.67_splice	c.e2+1	p.R23_splice	LYPD4_uc002orq.1_Missense_Mutation_p.R23H	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN	Homo sapiens LY6/PLAUR domain containing 4 (LYPD4), mRNA.	23						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						ACAGGACATACGAGGCAGAGT	0.577													7	147					0	0	1	0	0	T	42343292	C	T	42343292	5	4	241	1	0	0	0	0	0	0	1	0	9112	550	19	1	688	1	LYPD4	19	42343292	Splice_Site	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1429468	42343292	16785691	532	10508											
LIPE	3991	broad.mit.edu	37	chr19	42912409	42912409	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtctcgttgcgtttgtaGtgctccccgaaggacaccag	6	11	11	13	3	1	0	0	0	1	0	3	2	2	1	4	1	2	4	4	1	2	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:42912409G>A	uc002otr.3	-	2	1762	c.1485C>T	c.(1483-1485)caC>caT	p.H495H	AK311181_uc010eif.1_Intron|LIPE_uc002ots.1_Silent_p.H240H	NM_005357	NP_005348	Q05469	LIPS_HUMAN	Homo sapiens lipase, hormone-sensitive (LIPE), mRNA.	495					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TGCGTTTGTAGTGCTCCCCGA	0.627													45	211					0	0	1	0	0	A	42912409	G	A	42912409	2	1	241	1	0	0	0	0	0	0	0	1	8821	1020	36	3		3	LIPE	19	42912409	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	569117	42912409	16216574	533	10509											
PSG8	440533	broad.mit.edu	37	chr19	43259265	43259265	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatcctgttttcaatgggtCgctttaccctgggactgacc	6	13	11	11	1	1	1	1	1	0	0	3	3	2	3	3	3	1	2	3	3	2	4	rs113087470		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:43259265C>T	uc002ouo.2	-	3	961	c.863G>A	c.(862-864)cGa>cAa	p.R288Q	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Intron|PSG8_uc002ouh.3_Missense_Mutation_p.R288Q|PSG8_uc010ein.3_Missense_Mutation_p.R166Q|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	288	Ig-like C2-type 2.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TTCAATGGGTCGCTTTACCCT	0.468													63	213					0	0	1	0	0	T	43259265	C	T	43259265	3	4	241	1	0	0	0	0	1	0	0	0	12661	884	31	2	446	2	PSG8	19	43259265	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	346856	43259265	15869718	534	10510											
APOE	348	broad.mit.edu	37	chr19	45411904	45411904	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccaaggagctgcaggcGgcgcaggcccggctgggcgc	5	4	18	14	4	0	0	0	0	0	0	1	1	1	1	2	6	2	4	2	6	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:45411904G>A	uc002pab.3	+	3	434	c.351G>A	c.(349-351)gcG>gcA	p.A117A		NM_000041	NP_000032	P02649	APOE_HUMAN	Homo sapiens apolipoprotein E (APOE), mRNA.	117	8 X 22 AA approximate tandem repeats.		A -> T (in isoform E3*; dbSNP:rs28931577).		Cdc42 protein signal transduction|G-protein coupled receptor protein signaling pathway|anti-apoptosis|cGMP-mediated signaling|cell death|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of MAP kinase activity|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	AGCTGCAGGCGGCGCAGGCCC	0.682													3	13					0	0	1	0	0	A	45411904	G	A	45411904	2	1	241	1	0	0	0	0	0	0	0	1	802	1103	39	2		2	APOE	19	45411904	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2152639	45411904	13717079	535	10511											
PPP1R13L	10848	broad.mit.edu	37	chr19	45885827	45885827	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagccctcctggccgtgcagCgcggcccaccaccagtcggt	5	6	12	18	4	0	0	0	0	0	0	2	0	1	0	6	3	3	1	6	3	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:45885827C>T	uc002pbn.3	-	11	2483	c.2406G>A	c.(2404-2406)gcG>gcA	p.A802A	PPP1R13L_uc002pbm.3_Silent_p.A381A|PPP1R13L_uc002pbo.3_Silent_p.A802A	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.	802	SH3.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	p.A802A(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GGCCGTGCAGCGCGGCCCACC	0.697													31	102					0	0	1	0	0	T	45885827	C	T	45885827	2	4	241	1	0	0	0	0	0	0	0	1	12358	755	27	1		1	PPP1R13L	19	45885827	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	473923	45885827	13243156	536	10512											
PGLYRP1	8993	broad.mit.edu	37	chr19	46522887	46522887	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccctcgtatacgagcccGtcttctccaatcaggaagct	8	9	9	15	4	3	0	1	0	2	0	5	2	3	1	3	2	3	2	3	2	4	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:46522887G>A	uc002pdx.2	-	1	583	c.306C>T	c.(304-306)gaC>gaT	p.D102D		NM_005091	NP_005082	O75594	PGRP1_HUMAN	Homo sapiens peptidoglycan recognition protein 1 (PGLYRP1), mRNA.	102					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	N-acetylmuramoyl-L-alanine amidase activity|bacterial cell surface binding|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		ATACGAGCCCGTCTTCTCCAA	0.592													28	34					0	0	1	0	0	A	46522887	G	A	46522887	2	1	241	1	0	0	0	0	0	0	0	1	11793	1136	40	1		1	PGLYRP1	19	46522887	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	637060	46522887	12606096	537	10513											
GRIN2D	2906	broad.mit.edu	37	chr19	48908573	48908573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcggccacgactgtcgcGcccagaaccgcacccaccgc	8	3	10	20	6	0	1	0	0	0	1	2	2	0	1	5	1	2	2	5	1	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:48908573G>A	uc002pjc.4	+	2	1136	c.1048G>A	c.(1048-1050)Gcc>Acc	p.A350T		NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	350						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CGACTGTCGCGCCCAGAACCG	0.652													17	7					0	0	1	0	0	A	48908573	G	A	48908573	3	1	241	1	0	0	0	0	1	0	0	0	6782	1087	38	1	1054	1	GRIN2D	19	48908573	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2385686	48908573	10220410	538	10514											
TSKS	60385	broad.mit.edu	37	chr19	50265270	50265270	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggccctcaccaggatttcCgtgatgtctgcgtcatccgg	6	10	12	13	3	3	1	2	1	1	0	5	2	5	2	4	3	1	0	4	3	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:50265270C>T	uc002ppm.3	-	1	401	c.390G>A	c.(388-390)acG>acA	p.T130T		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	130							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCAGGATTTCCGTGATGTCTG	0.622													9	111					0	0	1	0	0	T	50265270	C	T	50265270	2	4	241	1	0	0	0	0	0	0	0	1	16623	639	23	2		2	TSKS	19	50265270	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1356697	50265270	8863713	539	10515											
POLD1	5424	broad.mit.edu	37	chr19	50912844	50912844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggatggacggcagctggCgctgaaggtgagcgccaact	8	6	16	11	3	0	2	0	2	0	0	0	4	0	4	2	5	3	3	2	5	2	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:50912844C>T	uc010eny.3	+	15	2154	c.2153C>T	c.(2152-2154)gCg>gTg	p.A718V	POLD1_uc002psb.4_Missense_Mutation_p.A692V|POLD1_uc002psc.4_Missense_Mutation_p.A692V|POLD1_uc010enx.3_Non-coding_Transcript	NM_002691	NP_002682	P28340	DPOD1_HUMAN	Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA.	692					DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|DNA binding|DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CGGCAGCTGGCGCTGAAGGTG	0.672								DNA polymerases (catalytic subunits)					10	194					0	0	1	0	0	T	50912844	C	T	50912844	3	4	241	1	0	0	0	0	1	0	0	0	12190	768	27	1	2137	1	POLD1	19	50912844	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	647574	50912844	8216139	540	10516											
SPIB	6689	broad.mit.edu	37	chr19	50926144	50926144	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctatgaagccttcgacccGgcagcagccgcttttagcca	8	8	9	16	3	0	1	0	1	0	0	1	2	0	1	5	1	4	3	5	1	3	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:50926144G>A	uc002psd.3	+	3	214	c.189G>A	c.(187-189)ccG>ccA	p.P63P	SPIB_uc021uyc.1_Missense_Mutation_p.R44Q|SPIB_uc002pse.3_Silent_p.P63P|SPIB_uc010ycc.2_Intron	NM_003121	NP_003112	Q01892	SPIB_HUMAN	Homo sapiens Spi-B transcription factor (Spi-1/PU.1 related) (SPIB), transcript variant 1, mRNA.	63					regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding	p.P63Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CCTTCGACCCGGCAGCAGCCG	0.662													50	136					0	0	1	0	0	A	50926144	G	A	50926144	2	1	241	1	0	0	0	0	0	0	0	1	15049	1103	39	2		2	SPIB	19	50926144	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	13300	50926144	8202839	541	10517											
ZNF841	284371	broad.mit.edu	37	chr19	52569526	52569526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttgtaaggtttctctcCggtatgaattctctgatgta	9	17	8	7	1	2	2	0	2	2	0	5	2	3	2	1	2	0	4	1	2	4	6			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:52569526C>T	uc010ydh.1	-	6	2069	c.1609G>A	c.(1609-1611)Gga>Aga	p.G537R	ZNF841_uc002pyl.1_Missense_Mutation_p.G421R	NM_001136499	NP_001129971	Q6ZN19	ZN841_HUMAN	Homo sapiens zinc finger protein 841 (ZNF841), mRNA.	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						GGTTTCTCTCCGGTATGAATT	0.398													10	25					0	0	1	0	0	T	52569526	C	T	52569526	3	4	241	1	0	0	0	0	1	0	0	0	18186	661	23	2	1169	2	ZNF841	19	52569526	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1643382	52569526	6559457	542	10518											
LILRB4	11006	broad.mit.edu	37	chr19	55175317	55175317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggaggctcgggagtaccGtctggataaagaggaaagcc	11	6	15	9	2	1	1	0	0	1	1	2	5	1	5	3	5	2	2	3	5	4	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:55175317G>A	uc002qgp.3	+	2	538	c.176G>A	c.(175-177)cGt>cAt	p.R59H	LILRB4_uc002qgo.1_Missense_Mutation_p.R100H|LILRB4_uc002qgq.3_Missense_Mutation_p.R59H|LILRB4_uc010ers.1_5'UTR|LILRB4_uc010ert.3_Missense_Mutation_p.R100H|LILRB4_uc010eru.3_Missense_Mutation_p.R88H	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	59	Ig-like C2-type 1.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CGGGAGTACCGTCTGGATAAA	0.587													85	117					0	0	1	0	0	A	55175317	G	A	55175317	3	1	241	1	0	0	0	0	1	0	0	0	8793	1145	40	1	186	1	LILRB4	19	55175317	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2605791	55175317	3953666	543	10519											
NLRP7	199713	broad.mit.edu	37	chr19	55451430	55451430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttcagctcatcaaggccatCgaccacgaacaggattctct	11	10	7	13	2	4	0	3	0	1	0	6	3	4	1	2	2	2	1	2	2	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:55451430C>T	uc002qih.4	-	3	833	c.757G>A	c.(757-759)Gat>Aat	p.D253N	NLRP7_uc010esk.3_Missense_Mutation_p.D253N|NLRP7_uc002qig.4_Missense_Mutation_p.D253N|NLRP7_uc002qii.4_Missense_Mutation_p.D253N|NLRP7_uc010esl.3_Missense_Mutation_p.D281N	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	253	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCAAGGCCATCGACCACGAAC	0.567													94	98					0	0	1	0	0	T	55451430	C	T	55451430	3	4	241	1	0	0	0	0	1	0	0	0	10482	884	31	2	2388	2	NLRP7	19	55451430	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	276113	55451430	3677553	544	10520											
NLRP2	55655	broad.mit.edu	37	chr19	55493635	55493635	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggttatggctgagagatacaAgatgctgatcccattcagca	12	10	11	8	0	1	4	1	2	0	2	2	5	2	4	1	2	3	4	1	2	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:55493635A>T	uc021vbq.1	+	5	680	c.569A>T	c.(568-570)aAg>aTg	p.K190M	NLRP2_uc010yfp.2_Missense_Mutation_p.K167M|NLRP2_uc002qij.3_Missense_Mutation_p.K190M|NLRP2_uc010esp.3_Missense_Mutation_p.K168M|NLRP2_uc010esn.3_Missense_Mutation_p.K166M|NLRP2_uc010eso.3_Missense_Mutation_p.K187M	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	190					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAGAGATACAAGATGCTGATC	0.542													56	168					0	0	1	0	0	T	55493635	A	T	55493635	3	4	241	1	0	0	0	0	1	0	0	0	10477	72	3	5	587	5	NLRP2	19	55493635	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	42205	55493635	3635348	545	10521											
NLRP2	55655	broad.mit.edu	37	chr19	55494882	55494882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagacctgcaggagctcCtcggctgtctgtacgagtct	7	10	12	12	2	2	2	0	1	2	1	4	4	3	3	2	2	3	4	2	2	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:55494882C>T	uc021vbq.1	+	5	1927	c.1816C>T	c.(1816-1818)Ctc>Ttc	p.L606F	NLRP2_uc010yfp.2_Missense_Mutation_p.L583F|NLRP2_uc002qij.3_Missense_Mutation_p.L606F|NLRP2_uc010esp.3_Missense_Mutation_p.L584F|NLRP2_uc010esn.3_Missense_Mutation_p.L582F|NLRP2_uc010eso.3_Missense_Mutation_p.L603F	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	606					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCAGGAGCTCCTCGGCTGTCT	0.517													31	39					0	0	1	0	0	T	55494882	C	T	55494882	3	4	241	1	0	0	0	0	1	0	0	0	10477	681	24	3	1834	3	NLRP2	19	55494882	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1247	55494882	3634101	546	10522											
SBK2	646643	broad.mit.edu	37	chr19	56041301	56041301	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtcccggggctggcccgaCgcctgccagatgaggaagtc	6	5	16	14	4	0	2	0	1	0	1	2	4	1	3	4	5	1	1	4	5	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:56041301C>T	uc010ygc.2	-	3	861	c.846G>A	c.(844-846)gcG>gcA	p.A282A		NM_001101401	NP_001094871	P0C263	SBK2_HUMAN	Homo sapiens SH3-binding domain kinase family, member 2 (SBK2), mRNA.	282	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCTGGCCCGACGCCTGCCAGA	0.731													4	6					0	0	1	0	0	T	56041301	C	T	56041301	2	4	241	1	0	0	0	0	0	0	0	1	13861	523	19	1		1	SBK2	19	56041301	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	546419	56041301	3087682	547	10523											
ZNF835	90485	broad.mit.edu	37	chr19	57176021	57176021	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgcgtgcgccagtgggaCgccaggtacgagccctggct	5	7	17	12	4	0	0	0	0	0	0	0	2	0	1	3	3	4	2	3	3	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:57176021C>T	uc010ygn.2	-	1	773	c.546G>A	c.(544-546)gcG>gcA	p.A182A		NM_001005850	NP_001005850			Homo sapiens zinc finger protein 835 (ZNF835), mRNA.											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GCCAGTGGGACGCCAGGTACG	0.716													8	21					0	0	1	0	0	T	57176021	C	T	57176021	2	4	241	1	0	0	0	0	0	0	0	1	18183	523	19	1		1	ZNF835	19	57176021	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1134720	57176021	1952962	548	10524											
ZNF416	55659	broad.mit.edu	37	chr19	58084870	58084870	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggtcctggtgaaagacCgcacatgccccagtcaagta	10	9	10	12	1	2	2	1	1	1	1	3	2	3	2	4	2	1	2	4	2	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:58084870C>T	uc002qpf.3	-	3	573	c.402G>A	c.(400-402)gcG>gcA	p.A134A		NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	Homo sapiens zinc finger protein 416 (ZNF416), mRNA.	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GGTGAAAGACCGCACATGCCC	0.502													14	51					0	0	1	0	0	T	58084870	C	T	58084870	2	4	241	1	0	0	0	0	0	0	0	1	17890	639	23	2		2	ZNF416	19	58084870	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	908849	58084870	1044113	549	10525											
ZSCAN18	65982	broad.mit.edu	37	chr19	58596148	58596148	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgggcttcgcgggtggaCggttgggggccccgggcgcc	1	6	21	13	5	0	0	0	0	0	0	1	1	0	1	4	7	0	2	4	7	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:58596148C>T	uc010yht.1	-	6	1635	c.1605G>A	c.(1603-1605)ccG>ccA	p.P535P	ZSCAN18_uc002qrj.3_Silent_p.P478P|ZSCAN18_uc010yhs.1_Silent_p.P343P|ZSCAN18_uc002qrh.2_Silent_p.P479P|ZSCAN18_uc002qri.2_Silent_p.P479P|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN	Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA.	479					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CGCGGGTGGACGGTTGGGGGC	0.726													5	12					0	0	1	0	0	T	58596148	C	T	58596148	2	4	241	1	0	0	0	0	0	0	0	1	18227	523	19	1		1	ZSCAN18	19	58596148	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	511278	58596148	532835	550	10526											
ZNF324B	388569	broad.mit.edu	37	chr19	58967425	58967425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgggcgtccttatgcttgcGcacagtgtggccgccgcttc	3	11	14	13	4	0	0	0	0	0	0	2	0	1	0	3	2	2	3	3	2	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:58967425G>A	uc002qsv.1	+	3	1221	c.1114G>A	c.(1114-1116)Gca>Aca	p.A372T	ZNF324B_uc002qsu.1_Missense_Mutation_p.A362T|ZNF324B_uc010euq.1_Missense_Mutation_p.A372T	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	Homo sapiens zinc finger protein 324B (ZNF324B), mRNA.	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TTATGCTTGCGCACAGTGTGG	0.657													4	54					0	0	1	0	0	A	58967425	G	A	58967425	3	1	241	1	0	0	0	0	1	0	0	0	17842	1087	38	1	1124	1	ZNF324B	19	58967425	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	371277	58967425	161558	551	10527											
FAM113A	64773	broad.mit.edu	37	chr20	2820527	2820527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgcttcgcagcgggcggCgcggctcctcgctcgacaga	4	7	15	15	8	0	1	0	0	0	1	5	2	1	1	1	3	1	4	1	3	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:2820527C>T	uc002wgz.1	-	1	529	c.32G>A	c.(31-33)cGc>cAc	p.R11H	FAM113A_uc010zqa.1_5'UTR|FAM113A_uc002whc.1_Missense_Mutation_p.R11H|VPS16_uc002whe.3_5'Flank|VPS16_uc002whf.3_5'Flank	NM_022760	NP_073597	Q9H1Q7	F113A_HUMAN	Homo sapiens family with sequence similarity 113, member A (FAM113A), mRNA.	11							hydrolase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(4)	17						CAGCGGGCGGCGCGGCTCCTC	0.637													35	42					0	0	1	0	0	T	2820527	C	T	2820527	3	4	241	1	0	0	0	0	1	0	0	0	5401	768	27	1	1360	1	FAM113A	20	2820527	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08		2820527	60204993	552	10528											
MAVS	57506	broad.mit.edu	37	chr20	3845039	3845041	+	In_Frame_Del	DEL	CTC	CTC	-																															gtatctactggcacctccttCtcctcctcatcccctggctt																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:3845039_3845041delCTC	uc002wjw.4	+	5	934_936	c.762_764delCTC	c.(760-765)ttctcc>ttc	p.S258del	MAVS_uc002wjx.4_In_Frame_Del_p.S117del|MAVS_uc002wjy.4_5'UTR	NM_020746	NP_001193420	Q7Z434	MAVS_HUMAN	Homo sapiens mitochondrial antiviral signaling protein (MAVS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	258					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of IP-10 production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GCACCTCCTTCTCCTCCTCATCC	0.626													53	115	---	---	---	---						-	3845041	CTC	-	3845039	7	5	241	1	0	1	0	1	0	0	0	0	9338	912	32	0	780	0	MAVS	20	3845039	In_Frame_Del	DEL	CTC	TCGA-HT-8564-01A-11D-2395-08	1024512	3845039	59180481	553	10529											
BFSP1	631	broad.mit.edu	37	chr20	17489628	17489628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcggccacctcccgctccGtcaggagcttctcctgcaca	5	7	11	18	3	2	0	1	0	1	0	5	1	4	1	5	3	2	3	5	3	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:17489628G>A	uc002wpo.3	-	4	680	c.641C>T	c.(640-642)aCg>aTg	p.T214M	BFSP1_uc002wpp.3_Missense_Mutation_p.T89M|BFSP1_uc010zrn.2_Missense_Mutation_p.T75M|BFSP1_uc010zro.2_Missense_Mutation_p.T75M	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	Homo sapiens beaded filament structural protein 1, filensin (BFSP1), transcript variant 1, mRNA.	214	Coil 2.|Rod.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						CTCCCGCTCCGTCAGGAGCTT	0.647													11	17					0	0	1	0	0	A	17489628	G	A	17489628	3	1	241	1	0	0	0	0	1	0	0	0	1415	1145	40	1	1372	1	BFSP1	20	17489628	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	13644589	17489628	45535892	554	10530											
PLAGL2	5326	broad.mit.edu	37	chr20	30789887	30789887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacttgactctccgcctccCggccccgaggcctgggaact	5	8	10	18	3	2	1	1	1	1	0	4	3	3	2	6	3	1	0	6	3	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:30789887C>T	uc002wxn.2	-	1	312	c.95G>A	c.(94-96)cGg>cAg	p.R32Q		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 2 (PLAGL2), mRNA.	32						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTCCGCCTCCCGGCCCCGAGG	0.567													30	111					0	0	1	0	0	T	30789887	C	T	30789887	3	4	241	1	0	0	0	0	1	0	0	0	12020	652	23	2	1403	2	PLAGL2	20	30789887	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	13300259	30789887	32235633	555	10531											
DNMT3B	1789	broad.mit.edu	37	chr20	31368261	31368261	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaggctatccgcaccccGgagatcagaggtggctgggc	7	6	16	12	2	1	2	1	0	0	2	2	4	2	3	3	6	0	3	3	6	1	1	rs138805251		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:31368261G>A	uc002wyc.3	+	1	453	c.132G>A	c.(130-132)ccG>ccA	p.P44P	DNMT3B_uc010ztx.1_Non-coding_Transcript|DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.3_Silent_p.P44P|DNMT3B_uc002wye.3_Silent_p.P44P|DNMT3B_uc010ztz.2_Silent_p.P44P|DNMT3B_uc010zua.2_Silent_p.P44P|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Silent_p.P56P	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	44	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	p.P44L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCGCACCCCGGAGATCAGAG	0.652													13	39					0	0	1	0	0	A	31368261	G	A	31368261	2	1	241	1	0	0	0	0	0	0	0	1	4677	1103	39	2		2	DNMT3B	20	31368261	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	578374	31368261	31657259	556	10532											
DYNLRB1	83658	broad.mit.edu	37	chr20	33122560	33122560	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaacgatctcaccttccttCgaattcgctccaagaaaaat	14	10	5	12	3	1	2	1	0	1	2	6	4	3	2	3	0	1	1	3	0	5	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:33122560C>T	uc002xal.3	+	2	268	c.208C>T	c.(208-210)Cga>Tga	p.R70*	DYNLRB1_uc010zuk.2_Nonsense_Mutation_p.R70*	NM_014183	NP_054902	Q9NP97	DLRB1_HUMAN	Homo sapiens dynein, light chain, roadblock-type 1 (DYNLRB1), mRNA.	70					microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity			endometrium(1)|large_intestine(1)|lung(1)	3						CACCTTCCTTCGAATTCGCTC	0.537													45	58					0	0	1	0	0	T	33122560	C	T	33122560	4	4	241	1	0	0	0	0	0	1	0	0	4850	876	31	2	218	2	DYNLRB1	20	33122560	Nonsense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1754299	33122560	29902960	557	10533											
EPB41L1	2036	broad.mit.edu	37	chr20	34770234	34770234	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacagtcaagttctacccGcctgatcctgcccagctgac	8	10	7	16	1	3	2	2	2	1	0	4	2	4	2	4	0	3	2	4	0	2	3	rs139137163	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:34770234G>A	uc002xfb.3	+	5	702	c.531G>A	c.(529-531)ccG>ccA	p.P177P	EPB41L1_uc002xeu.3_Silent_p.P115P|EPB41L1_uc010zvo.1_Silent_p.P177P|EPB41L1_uc002xev.3_Silent_p.P177P|EPB41L1_uc002xew.3_Silent_p.P80P|EPB41L1_uc002xex.3_Silent_p.P146P|EPB41L1_uc002xey.3_Silent_p.P177P|EPB41L1_uc002xez.3_Silent_p.P115P	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	177	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AGTTCTACCCGCCTGATCCTG	0.582													38	69					0	0	1	0	0	A	34770234	G	A	34770234	2	1	241	1	0	0	0	0	0	0	0	1	5152	1074	38	1		1	EPB41L1	20	34770234	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1647674	34770234	28255286	558	10534											
DHX35	60625	broad.mit.edu	37	chr20	37659354	37659354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatgttccaaggaccatcCgtgatgaccatgagctgcac	10	10	9	12	1	1	3	0	3	1	0	3	4	3	4	4	1	2	3	4	1	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:37659354C>T	uc002xjh.3	+	19	1921	c.1891C>T	c.(1891-1893)Cgt>Tgt	p.R631C	DHX35_uc010zwa.2_Missense_Mutation_p.R476C|DHX35_uc010zwc.2_Missense_Mutation_p.R600C|DHX35_uc010zwb.2_Missense_Mutation_p.R476C	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 35 (DHX35), transcript variant 1, mRNA.	631						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				AAGGACCATCCGTGATGACCA	0.438													40	100					0	0	1	0	0	T	37659354	C	T	37659354	3	4	241	1	0	0	0	0	1	0	0	0	4508	652	23	2	1969	2	DHX35	20	37659354	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2889120	37659354	25366166	559	10535											
GTSF1L	149699	broad.mit.edu	37	chr20	42354972	42354972	+	Frame_Shift_Del	DEL	A	A	-																															tcacaaacaaccttttgaggAaaaaaagtcttaaggacaaa																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:42354972delA	uc002xld.3	-	0	671	c.363delT	c.(361-363)tttfs	p.F121fs	GTSF1L_uc002xlc.3_Frame_Shift_Del_p.F96fs	NM_176791	NP_789761	Q9H1H1	GTSFL_HUMAN	Homo sapiens gametocyte specific factor 1-like (GTSF1L), transcript variant 1, mRNA.	121							metal ion binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCTTTTGAGGAAAAAAAGTCT	0.493													18	112	---	---	---	---						-	42354972	A	-	42354972	7	5	241	1	0	1	0	1	0	0	0	0	6887	243	9	0	87	0	GTSF1L	20	42354972	Frame_Shift_Del	DEL	A	TCGA-HT-8564-01A-11D-2395-08	4695618	42354972	20670548	560	10536											
CDH22	64405	broad.mit.edu	37	chr20	44838993	44838993	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcccgcgccgtcaccacgccGaccagggagcccacctgcgc	6	3	11	21	6	1	0	1	0	0	0	2	2	2	1	7	1	2	0	7	1	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:44838993G>A	uc002xrm.2	-	5	1638	c.1239C>T	c.(1237-1239)gtC>gtT	p.V413V	CDH22_uc010ghk.1_Silent_p.V413V|CDH22_uc002xrn.2_Silent_p.V164V	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	413	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TCACCACGCCGACCAGGGAGC	0.771													6	4					0	0	1	0	0	A	44838993	G	A	44838993	2	1	241	1	0	0	0	0	0	0	0	1	3107	1045	37	2		2	CDH22	20	44838993	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2484021	44838993	18186527	561	10537											
SLC13A3	64849	broad.mit.edu	37	chr20	45217829	45217829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggttctggtattcttccCgaattacagctcgagcccta	8	12	8	13	2	2	0	0	0	2	0	4	2	3	0	3	2	3	3	3	2	4	6			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:45217829C>T	uc002xsf.2	-	6	1026	c.986G>A	c.(985-987)cGg>cAg	p.R329Q	SLC13A3_uc010ghn.2_Missense_Mutation_p.R298Q|SLC13A3_uc010zxx.2_Missense_Mutation_p.R231Q|SLC13A3_uc010zxw.2_Missense_Mutation_p.R279Q|SLC13A3_uc002xsg.2_Missense_Mutation_p.R282Q|SLC13A3_uc010gho.2_Missense_Mutation_p.R282Q	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	329						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GTATTCTTCCCGAATTACAGC	0.502													24	130					0	0	1	0	0	T	45217829	C	T	45217829	3	4	241	1	0	0	0	0	1	0	0	0	14393	652	23	2	850	2	SLC13A3	20	45217829	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	378836	45217829	17807691	562	10538											
PREX1	57580	broad.mit.edu	37	chr20	47266679	47266679	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaagtccaggccacacagCgggtggggctccaggggggc	8	3	18	12	1	0	1	0	0	0	1	2	1	2	1	3	7	1	1	3	7	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:47266679C>T	uc002xtw.1	-	23	2906	c.2883G>A	c.(2881-2883)ccG>ccA	p.P961P	PREX1_uc002xtv.1_Silent_p.P258P	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	961					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGCCACACAGCGGGTGGGGCT	0.592													78	163					0	0	1	0	0	T	47266679	C	T	47266679	2	4	241	1	0	0	0	0	0	0	0	1	12476	755	27	1		1	PREX1	20	47266679	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2048850	47266679	15758841	563	10539											
SALL4	57167	broad.mit.edu	37	chr20	50400983	50400983	+	Frame_Shift_Del	DEL	C	C	-																															ggaaaccgggagggtaggaaCccccccactctggatcacag																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:50400983delC	uc002xwh.4	-	3	3084	c.2983delG	c.(2983-2985)gttfs	p.V995fs	SALL4_uc010gii.3_Frame_Shift_Del_p.V558fs|SALL4_uc002xwi.4_Frame_Shift_Del_p.V218fs	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	995					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGGGTAGGAACCCCCCCACTC	0.562													24	116	---	---	---	---						-	50400983	C	-	50400983	7	5	241	1	0	1	0	1	0	0	0	0	13813	507	18	0	182	0	SALL4	20	50400983	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	3134304	50400983	12624537	564	10540											
ZNF831	128611	broad.mit.edu	37	chr20	57769140	57769140	+	Frame_Shift_Del	DEL	G	G	-																															gggagaaaaggggcacagttGgggggggacaagggggacag																								rs55786258	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:57769140delG	uc002yan.3	+	0	3066	c.3066delG	c.(3064-3066)ttgfs	p.L1022fs		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1022						intracellular	nucleic acid binding|zinc ion binding	p.D1025fs*9(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGCACAGTTGGGGGGGGACA	0.682													18	57	---	---	---	---						-	57769140	G	-	57769140	7	5	241	1	0	1	0	1	0	0	0	0	18182	1339	47	0	3068	0	ZNF831	20	57769140	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	7368157	57769140	5256380	565	10541											
CDH4	1002	broad.mit.edu	37	chr20	60503309	60503309	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcattgacatcaacgacaaCgcccctgagctgctgcccaa	11	7	7	16	2	2	2	2	2	0	0	2	3	2	2	3	0	5	2	3	0	3	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:60503309C>T	uc002ybn.2	+	11	1921	c.1833C>T	c.(1831-1833)aaC>aaT	p.N611N	CDH4_uc002ybr.2_Silent_p.N574N|CDH4_uc002ybp.2_Silent_p.N537N	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	611	Cadherin 4.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TCAACGACAACGCCCCTGAGC	0.627													82	354					0	0	1	0	0	T	60503309	C	T	60503309	2	4	241	1	0	0	0	0	0	0	0	1	3112	535	19	1		1	CDH4	20	60503309	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2734169	60503309	2522211	566	10542											
CDH4	1002	broad.mit.edu	37	chr20	60504690	60504690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actatgcccaactcagcttgCgcatcctgtacctggaggcc	8	9	9	15	1	1	0	1	0	0	0	2	1	2	1	4	2	5	3	4	2	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:60504690C>T	uc002ybn.2	+	12	2117	c.2029C>T	c.(2029-2031)Cgc>Tgc	p.R677C	CDH4_uc002ybr.2_Missense_Mutation_p.R640C|CDH4_uc002ybp.2_Missense_Mutation_p.R603C	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	677	Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding	p.R677H(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACTCAGCTTGCGCATCCTGTA	0.532													37	105					0	0	1	0	0	T	60504690	C	T	60504690	3	4	241	1	0	0	0	0	1	0	0	0	3112	768	27	1	2079	1	CDH4	20	60504690	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1381	60504690	2520830	567	10543											
TAF4	6874	broad.mit.edu	37	chr20	60574065	60574065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccctcatcaggatctcccGctcctgctcatccttcctct	4	13	5	19	1	5	0	3	0	2	0	9	1	8	1	5	1	2	2	5	1	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:60574065G>A	uc002ybs.3	-	11	2887	c.2887C>T	c.(2887-2889)Cgg>Tgg	p.R963W		NM_003185	NP_003176	O00268	TAF4_HUMAN	Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA.	963					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	MLL1 complex|cytoplasm|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			AGGATCTCCCGCTCCTGCTCA	0.557													178	279					0	0	1	0	0	A	60574065	G	A	60574065	3	1	241	1	0	0	0	0	1	0	0	0	15523	1086	38	1	386	1	TAF4	20	60574065	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	69375	60574065	2451455	568	10544											
LAMA5	3911	broad.mit.edu	37	chr20	60905854	60905854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccacagcggtggggggcCgaggtcggggtccagctggg	4	5	22	10	3	0	0	0	0	0	0	3	1	2	0	3	9	2	1	3	9	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:60905854C>T	uc002ycq.3	-	29	3864	c.3797G>A	c.(3796-3798)cGg>cAg	p.R1266Q	LAMA5_uc021wfw.1_Missense_Mutation_p.R1266Q	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1266	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTGGGGGGCCGAGGTCGGGG	0.697													3	7					0	0	1	0	0	T	60905854	C	T	60905854	3	4	241	1	0	0	0	0	1	0	0	0	8609	652	23	2	7494	2	LAMA5	20	60905854	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	331789	60905854	2119666	569	10545											
SLCO4A1	28231	broad.mit.edu	37	chr20	61288352	61288352	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtgctgcttatgggcacGgggtcgctggtgttcgcgct	2	11	18	10	5	0	0	0	0	0	0	2	0	0	0	0	5	2	6	0	5	1	2	rs147575435	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:61288352G>A	uc002ydb.1	+	1	751	c.546G>A	c.(544-546)acG>acA	p.T182T		NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA.	182					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			TTATGGGCACGGGGTCGCTGG	0.687													13	103					0	0	1	0	0	A	61288352	G	A	61288352	2	1	241	1	0	0	0	0	0	0	0	1	14729	1103	39	2		2	SLCO4A1	20	61288352	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	382498	61288352	1737168	570	10546											
PRIC285	85441	broad.mit.edu	37	chr20	62195519	62195519	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggtgctggctgccaccgCagaggcgtgaccgtccgcgt	4	6	17	14	6	0	2	0	1	0	1	1	2	1	2	4	4	2	3	4	4	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:62195519C>T	uc002yfm.2	-	8	5548	c.4656G>A	c.(4654-4656)ctG>ctA	p.L1552L	PRIC285_uc002yfl.1_Silent_p.L983L	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	1552					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			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)			GCTGCCACCGCAGAGGCGTGA	0.647													12	35					0	0	1	0	0	T	62195519	C	T	62195519	2	4	241	1	0	0	0	0	0	0	0	1	12485	697	25	3		3	PRIC285	20	62195519	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	907167	62195519	830001	571	10547											
TNFRSF6B	8771	broad.mit.edu	37	chr20	62328415	62328417	+	In_Frame_Del	DEL	GAG	GAG	-																															acgtcctctgcggggagcgtGaggaggaggcacgggcttgc																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:62328415_62328417delGAG	uc002yfy.3	+	4	923_925	c.295_297delGAG	c.(295-297)gagdel	p.E101del	RTEL1_uc002yfu.2_3'UTR|RTEL1_uc011abd.2_3'UTR|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_3'UTR|RTEL1_uc021wge.1_3'UTR|RTEL1_uc002yfx.1_3'UTR|TNFRSF6B_uc002yfz.3_In_Frame_Del_p.E101del	NM_003823	NP_003814	O95407	TNF6B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 6b, decoy (TNFRSF6B), mRNA.	101					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			CGGGGAGCGTGAGGAGGAGGCAC	0.67													9	35	---	---	---	---						-	62328417	GAG	-	62328415	7	5	241	1	0	1	0	1	0	0	0	0	16295	1291	45	0	297	0	TNFRSF6B	20	62328415	In_Frame_Del	DEL	GAG	TCGA-HT-8564-01A-11D-2395-08	132896	62328415	697105	572	10548											
SON	6651	broad.mit.edu	37	chr21	34923567	34923567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagtccctggaggtgccctCgacgacagcgctggaatcct	7	7	13	14	3	0	0	0	0	0	0	3	4	2	2	3	3	2	2	3	3	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:34923567C>T	uc002yse.1	+	2	2079	c.2030C>T	c.(2029-2031)tCg>tTg	p.S677L	SON_uc002ysb.1_Missense_Mutation_p.S677L|SON_uc002ysc.3_Missense_Mutation_p.S677L|SON_uc002ysd.3_5'UTR|SON_uc002ysf.1_Intron|SON_uc021win.1_Missense_Mutation_p.S323L|SON_uc002ysg.3_5'Flank	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	677					RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	p.P676S(1)		breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GAGGTGCCCTCGACGACAGCG	0.557													27	97					0	0	1	0	0	T	34923567	C	T	34923567	3	4	241	1	0	0	0	0	1	0	0	0	14926	893	31	2	2040	2	SON	21	34923567	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08		34923567	13206328	573	10549											
PRDM15	63977	broad.mit.edu	37	chr21	43230535	43230535	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgcttgcgccgcatgtgtCggctcatggaggccctggtg	3	10	17	11	3	1	0	1	0	0	0	2	1	1	1	2	5	2	3	2	5	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:43230535C>T	uc002yzq.1	-	27	3836	c.3725G>A	c.(3724-3726)cGa>cAa	p.R1242Q	PRDM15_uc002yzo.3_Missense_Mutation_p.R913Q|PRDM15_uc002yzp.3_Missense_Mutation_p.R933Q|PRDM15_uc002yzr.1_Missense_Mutation_p.R933Q	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	1242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CCGCATGTGTCGGCTCATGGA	0.682													29	27					0	0	1	0	0	T	43230535	C	T	43230535	3	4	241	1	0	0	0	0	1	0	0	0	12456	884	31	2	814	2	PRDM15	21	43230535	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	8306968	43230535	4899360	574	10550											
ICOSLG	23308	broad.mit.edu	37	chr21	45651221	45651221	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcctatggccaccgccacGaccacaagcaggcacaggac	12	2	10	17	2	0	0	0	0	0	0	0	2	0	1	5	3	2	2	5	3	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:45651221G>A	uc010gpp.1	-	4	938	c.804C>T	c.(802-804)gtC>gtT	p.V268V	ICOSLG_uc002zef.3_Silent_p.V151V|ICOSLG_uc002zee.3_Silent_p.V268V|ICOSLG_uc011afc.2_Silent_p.V178V	NM_015259	NP_056074	O75144	ICOSL_HUMAN	Homo sapiens inducible T-cell co-stimulator ligand (ICOSLG), mRNA.	268					B cell activation|T cell activation|T cell costimulation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		CCACCGCCACGACCACAAGCA	0.567													52	72					0	0	1	0	0	A	45651221	G	A	45651221	2	1	241	1	0	0	0	0	0	0	0	1	7487	1045	37	2		2	ICOSLG	21	45651221	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2420686	45651221	2478674	575	10551											
SLC19A1	6573	broad.mit.edu	37	chr21	46951531	46951531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacaggccacccgcagggCgtgtcccagcttcccgcctg	5	5	11	20	3	0	0	0	0	0	0	2	0	2	0	6	2	1	2	6	2	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:46951531C>T	uc002zhl.2	-	2	874	c.721G>A	c.(721-723)Gcc>Acc	p.A241T	SLC19A1_uc010gpy.1_Missense_Mutation_p.A241T|SLC19A1_uc011aft.2_Missense_Mutation_p.A201T|SLC19A1_uc002zhm.2_Missense_Mutation_p.A241T|SLC19A1_uc010gpz.2_Missense_Mutation_p.A120T	NM_194255	NP_919231	P41440	S19A1_HUMAN	Homo sapiens solute carrier family 19 (folate transporter), member 1 (SLC19A1), transcript variant 1, mRNA.	241					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		ACCCGCAGGGCGTGTCCCAGC	0.716													69	60					0	0	1	0	0	T	46951531	C	T	46951531	3	4	241	1	0	0	0	0	1	0	0	0	14428	768	27	1	1070	1	SLC19A1	21	46951531	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1300310	46951531	1178364	576	10552											
SLC19A1	6573	broad.mit.edu	37	chr21	46951822	46951822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtagcgcgcgggccgcaCgagagagaagatgtaggagg	10	4	19	8	5	0	3	0	0	0	3	0	6	0	4	1	4	1	3	1	4	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:46951822C>T	uc002zhl.2	-	2	583	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	SLC19A1_uc010gpy.1_Missense_Mutation_p.V144M|SLC19A1_uc011aft.2_Missense_Mutation_p.V104M|SLC19A1_uc002zhm.2_Missense_Mutation_p.V144M|SLC19A1_uc010gpz.2_Missense_Mutation_p.V23M	NM_194255	NP_919231	P41440	S19A1_HUMAN	Homo sapiens solute carrier family 19 (folate transporter), member 1 (SLC19A1), transcript variant 1, mRNA.	144					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GCGGGCCGCACGAGAGAGAAG	0.667													5	9					0	0	1	0	0	T	46951822	C	T	46951822	3	4	241	1	0	0	0	0	1	0	0	0	14428	536	19	1	1361	1	SLC19A1	21	46951822	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	291	46951822	1178073	577	10553											
COL6A1	1291	broad.mit.edu	37	chr21	47423450	47423450	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacggaccccgcccacgaCgtgcgggtggcggtggtgca	6	4	18	13	6	0	0	0	0	0	0	0	3	0	2	3	6	2	1	3	6	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:47423450C>T	uc002zhu.1	+	34	2712	c.2610C>T	c.(2608-2610)gaC>gaT	p.D870D	COL6A1_uc002zhv.1_Silent_p.D201D	NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	870	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CCGCCCACGACGTGCGGGTGG	0.711													21	65					0	0	1	0	0	T	47423450	C	T	47423450	2	4	241	1	0	0	0	0	0	0	0	1	3699	535	19	1		1	COL6A1	21	47423450	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	471628	47423450	706445	578	10554											
DIP2A	23181	broad.mit.edu	37	chr21	47916995	47916995	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttctgtccttgtgcattcGtctgtggaaacctacacccc	6	13	8	14	2	2	0	0	0	2	0	4	1	3	1	4	1	3	2	4	1	2	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:47916995G>A	uc002zjo.2	+	3	561	c.378G>A	c.(376-378)tcG>tcA	p.S126S	DIP2A_uc011afy.1_Silent_p.S62S|DIP2A_uc011afz.1_Silent_p.S126S|DIP2A_uc002zjl.3_Silent_p.S126S|DIP2A_uc002zjm.3_Silent_p.S126S|DIP2A_uc010gql.3_Silent_p.S126S|DIP2A_uc002zjn.3_Silent_p.S126S	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	126					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TTGTGCATTCGTCTGTGGAAA	0.453													17	18					0	0	1	0	0	A	47916995	G	A	47916995	2	1	241	1	0	0	0	0	0	0	0	1	4527	1132	40	1		1	DIP2A	21	47916995	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	493545	47916995	212900	579	10555											
DIP2A	23181	broad.mit.edu	37	chr21	47954526	47954527	+	Frame_Shift_Ins	INS	-	-	G																															agcaaagaaggcagtacggtINSgggggtcacagtgtcccacg																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:47954526_47954527insG	uc002zjo.2	+	12	1751_1752	c.1568_1569insG	c.(1567-1569)gtgfs	p.V523fs	DIP2A_uc011afy.1_Frame_Shift_Ins_p.V459fs|DIP2A_uc011afz.1_Frame_Shift_Ins_p.V519fs|DIP2A_uc002zjl.3_Frame_Shift_Ins_p.V523fs|DIP2A_uc002zjm.3_Frame_Shift_Ins_p.V523fs|DIP2A_uc010gql.3_Frame_Shift_Ins_p.V480fs|DIP2A_uc002zjn.3_Frame_Shift_Ins_p.V523fs|DIP2A_uc002zjp.1_Frame_Shift_Ins_p.V268fs|Metazoa_SRP_uc021wkb.1_5'Flank	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	523					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGCAGTACGGTGGGGGTCACAG	0.535													26	32	---	---	---	---						G	47954527	-	G	47954526	7	5	241	1	0	1	1	0	0	0	0	0	4527	1696	59	0	1618	0	DIP2A	21	47954526	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	37531	47954526	175369	580	10556											
IL17RA	23765	broad.mit.edu	37	chr22	17589817	17589817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcaggcagctccgcgccGccctggacaggttccgggac	5	4	16	16	5	0	0	0	0	0	0	2	2	2	2	4	5	1	4	4	5	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:17589817G>A	uc002zly.3	+	12	1839	c.1708G>A	c.(1708-1710)Gcc>Acc	p.A570T		NM_014339	NP_055154	Q96F46	I17RA_HUMAN	Homo sapiens interleukin 17 receptor A (IL17RA), mRNA.	570					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		GCTCCGCGCCGCCCTGGACAG	0.677													7	32					0	0	1	0	0	A	17589817	G	A	17589817	3	1	241	1	0	0	0	0	1	0	0	0	7639	1087	38	1	1758	1	IL17RA	22	17589817	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08		17589817	33714749	581	10557											
MICAL3	57553	broad.mit.edu	37	chr22	18387494	18387494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatggccagagatgcaagaCgttgttgcgggagaaggcat	12	7	16	6	2	0	3	0	0	0	3	0	6	0	3	1	3	2	4	1	3	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:18387494C>T	uc002zng.4	-	2	729	c.376G>A	c.(376-378)Gtc>Atc	p.V126I	MICAL3_uc011agl.2_Missense_Mutation_p.V126I|MICAL3_uc002znh.2_Missense_Mutation_p.V126I|MICAL3_uc002znj.1_5'Flank|MICAL3_uc002znk.1_Missense_Mutation_p.V126I|MICAL3_uc002znl.1_5'UTR|MICAL3_uc010grf.3_Missense_Mutation_p.V126I|MICAL3_uc011agm.1_Missense_Mutation_p.V126I	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	126						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AGATGCAAGACGTTGTTGCGG	0.522													36	254					0	0	1	0	0	T	18387494	C	T	18387494	3	4	241	1	0	0	0	0	1	0	0	0	9571	536	19	1	6489	1	MICAL3	22	18387494	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	797677	18387494	32917072	582	10558											
ARVCF	421	broad.mit.edu	37	chr22	19960526	19960526	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacactgtctgcagcacGtgtgacgccgccttcgcttc	5	10	9	17	4	1	1	0	1	1	0	4	1	2	1	3	0	2	3	3	0	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:19960526G>A	uc002zqz.3	-	14	2742	c.2472C>T	c.(2470-2472)caC>caT	p.H824H	ARVCF_uc002zqy.3_Silent_p.H340H	NM_001670	NP_001661	O00192	ARVC_HUMAN	Homo sapiens armadillo repeat gene deleted in velocardiofacial syndrome (ARVCF), mRNA.	824					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					TCTGCAGCACGTGTGACGCCG	0.672													49	164					0	0	1	0	0	A	19960526	G	A	19960526	2	1	241	1	0	0	0	0	0	0	0	1	1003	1136	40	1		1	ARVCF	22	19960526	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1573032	19960526	31344040	583	10559											
PI4KA	5297	broad.mit.edu	37	chr22	21082106	21082106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacggctcccgggtccaaccGaacgagacgggtcacttcgt	9	6	12	14	6	1	1	1	0	0	1	4	3	3	1	3	3	3	1	3	3	3	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:21082106G>A	uc002zsz.4	-	39	4816	c.4555C>T	c.(4555-4557)Cgg>Tgg	p.R1519W	PI4KA_uc002zsy.4_Missense_Mutation_p.R329W	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	1519					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GGGTCCAACCGAACGAGACGG	0.547													46	77					0	0	1	0	0	A	21082106	G	A	21082106	3	1	241	1	0	0	0	0	1	0	0	0	11873	1057	37	2	1643	2	PI4KA	22	21082106	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1121580	21082106	30222460	584	10560											
PPIL2	23759	broad.mit.edu	37	chr22	22048118	22048118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccccagcttcatcacgtttCgctcctgtgcctacctggac	5	12	7	17	2	2	0	2	0	0	0	5	1	4	1	5	1	3	3	5	1	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:22048118C>T	uc010gtj.1	+	15	1269	c.1153C>T	c.(1153-1155)Cgc>Tgc	p.R385C	PPIL2_uc002zvh.4_Missense_Mutation_p.R385C|PPIL2_uc002zvi.4_Missense_Mutation_p.R385C|PPIL2_uc002zvg.4_Missense_Mutation_p.R385C|PPIL2_uc011aij.2_Missense_Mutation_p.R364C|PPIL2_uc002zvk.4_Missense_Mutation_p.R131C	NM_148175	NP_680480	Q13356	PPIL2_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 2 (PPIL2), transcript variant 2, mRNA.	385	PPIase cyclophilin-type.				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					CATCACGTTTCGCTCCTGTGC	0.602													116	152					0	0	1	0	0	T	22048118	C	T	22048118	3	4	241	1	0	0	0	0	1	0	0	0	12327	884	31	2	1215	2	PPIL2	22	22048118	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	966012	22048118	29256448	585	10561											
CABIN1	23523	broad.mit.edu	37	chr22	24479228	24479228	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatccacctctgaagacacGcacccttacaaggaggagct	12	6	9	14	1	1	2	0	1	1	1	2	4	2	4	3	2	2	3	3	2	3	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:24479228G>A	uc002zzi.1	+	19	2923	c.2796G>A	c.(2794-2796)acG>acA	p.T932T	CABIN1_uc021wnc.1_Silent_p.T882T|CABIN1_uc002zzj.1_Silent_p.T882T|CABIN1_uc002zzl.2_Silent_p.T932T	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	932					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTGAAGACACGCACCCTTACA	0.582													40	50					0	0	1	0	0	A	24479228	G	A	24479228	2	1	241	1	0	0	0	0	0	0	0	1	2528	1074	38	1		1	CABIN1	22	24479228	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2431110	24479228	26825338	586	10562											
SUSD2	56241	broad.mit.edu	37	chr22	24581087	24581087	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcaggcgctctggaccaacGaccacgcactggcctggcac	8	5	12	16	3	1	0	0	0	1	0	1	2	1	1	3	4	2	4	3	4	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:24581087G>A	uc002zzn.1	+	5	852	c.808G>A	c.(808-810)Gac>Aac	p.D270N		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	270					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CTGGACCAACGACCACGCACT	0.672													28	52					0	0	1	0	0	A	24581087	G	A	24581087	3	1	241	1	0	0	0	0	1	0	0	0	15405	1058	37	2	830	2	SUSD2	22	24581087	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	101859	24581087	26723479	587	10563											
ADRBK2	157	broad.mit.edu	37	chr22	26118335	26118335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggctattgcgtcgtgcccCgaagttcctcaacaaacctc	8	9	9	15	4	1	0	1	0	0	0	4	1	2	0	4	1	4	2	4	1	4	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:26118335C>T	uc003abx.4	+	20	2132	c.1985C>T	c.(1984-1986)cCg>cTg	p.P662L	ADRBK2_uc003aby.4_Non-coding_Transcript	NM_005160	NP_005151	P35626	ARBK2_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 2 (ADRBK2), mRNA.	662							ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	p.P662A(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	CGTCGTGCCCCGAAGTTCCTC	0.542													40	135					0	0	1	0	0	T	26118335	C	T	26118335	3	4	241	1	0	0	0	0	1	0	0	0	344	652	23	2	2067	2	ADRBK2	22	26118335	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1537248	26118335	25186231	588	10564											
MYO18B	84700	broad.mit.edu	37	chr22	26164580	26164580	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggaactgtggcactgaaaAaaggcgaggagggtcaaagc	16	4	15	6	1	1	1	1	1	0	0	1	4	1	3	0	5	2	1	0	5	6	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:26164580A>G	uc003abz.1	+	3	947	c.697A>G	c.(697-699)Aaa>Gaa	p.K233E	MYO18B_uc003aca.1_Missense_Mutation_p.K114E|MYO18B_uc010guy.1_Missense_Mutation_p.K114E|MYO18B_uc010guz.1_Missense_Mutation_p.K114E|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	233						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGCACTGAAAAAAGGCGAGGA	0.617													4	16					0	0	1	0	0	G	26164580	A	G	26164580	3	3	241	1	0	0	0	0	1	0	0	0	10066	15	1	3	707	3	MYO18B	22	26164580	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	46245	26164580	25139986	589	10565											
INPP5J	27124	broad.mit.edu	37	chr22	31522443	31522443	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacctgggcggtggtgaCgacagcgacggcgcagacat	8	5	15	13	5	0	2	0	1	0	1	1	4	1	2	2	4	1	1	2	4	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:31522443C>T	uc003aju.4	+	2	1445	c.1353C>T	c.(1351-1353)gaC>gaT	p.D451D	INPP5J_uc010gwf.3_Silent_p.D451D|INPP5J_uc003ajw.3_5'UTR|INPP5J_uc003ajt.4_Silent_p.D83D|INPP5J_uc003ajv.4_Silent_p.D84D|INPP5J_uc003ajs.4_Silent_p.D84D|INPP5J_uc011alk.2_Silent_p.D384D|INPP5J_uc010gwg.3_Silent_p.D16D	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA.	451	Catalytic (Potential).					cytoplasm|ruffle	SH3 domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GCGGTGGTGACGACAGCGACG	0.657													109	191					0	0	1	0	0	T	31522443	C	T	31522443	2	4	241	1	0	0	0	0	0	0	0	1	7759	535	19	1		1	INPP5J	22	31522443	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5357863	31522443	19782123	590	10566											
SFI1	9814	broad.mit.edu	37	chr22	31976293	31976293	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccctaaaagacaatgtgacCcacgctcatctccagcaaat	14	7	6	14	1	2	2	1	1	1	1	3	2	2	2	3	0	1	2	3	0	4	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:31976293C>A	uc003ale.3	+	11	1584	c.1191C>A	c.(1189-1191)acC>acA	p.T397T	SFI1_uc003ald.1_Silent_p.T373T|SFI1_uc003alf.3_Intron|SFI1_uc003alg.3_Silent_p.T315T|SFI1_uc011alp.2_Silent_p.T315T|SFI1_uc011alq.2_Intron|SFI1_uc003alh.3_Non-coding_Transcript|SFI1_uc010gwi.3_Non-coding_Transcript	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA.	397					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						ACAATGTGACCCACGCTCATC	0.453													5	74					0.184627	0.184627	1	1	0	A	31976293	C	A	31976293	2	1	241	1	0	0	0	0	0	0	0	1	14156	610	22	5		5	SFI1	22	31976293	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	453850	31976293	19328273	591	10567											
SFI1	9814	broad.mit.edu	37	chr22	32000374	32000374	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagcgtgctgcacagggCgctgcaggcatgggtggtag	7	6	18	10	2	0	0	0	0	0	0	0	0	0	0	0	4	4	7	0	4	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:32000374C>T	uc003ale.3	+	18	2354	c.1961C>T	c.(1960-1962)gCg>gTg	p.A654V	SFI1_uc003ald.1_Missense_Mutation_p.A630V|SFI1_uc003alf.3_Missense_Mutation_p.A623V|SFI1_uc003alg.3_Missense_Mutation_p.A572V|SFI1_uc011alp.2_Missense_Mutation_p.A572V|SFI1_uc011alq.2_Missense_Mutation_p.A599V|SFI1_uc003alh.3_Non-coding_Transcript|SFI1_uc010gwi.3_Intron	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA.	654	Interaction with CETN2.				G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CTGCACAGGGCGCTGCAGGCA	0.602											OREG0003526	type=REGULATORY REGION|Gene=SFI1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	3	7					0	0	1	0	0	T	32000374	C	T	32000374	3	4	241	1	0	0	0	0	1	0	0	0	14156	768	27	1	2031	1	SFI1	22	32000374	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	24081	32000374	19304192	592	10568											
YWHAH	7533	broad.mit.edu	37	chr22	32352168	32352170	+	In_Frame_Del	DEL	CTC	CTC	-																															tctccaatgaagatcgaaatCtcctctctgtggcctacaag																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:32352168_32352170delCTC	uc003alz.3	+	1	371_373	c.130_132delCTC	c.(130-132)ctcdel	p.L45del	YWHAH_uc003ama.3_5'UTR|YWHAH_uc010gwm.3_In_Frame_Del_p.L32del	NM_003405	NP_003396	Q04917	1433F_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide (YWHAH), mRNA.	45					glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						AGATCGAAATCTCCTCTCTGTGG	0.438													18	118	---	---	---	---						-	32352170	CTC	-	32352168	7	5	241	1	0	1	0	1	0	0	0	0	17501	913	32	0	136	0	YWHAH	22	32352168	In_Frame_Del	DEL	CTC	TCGA-HT-8564-01A-11D-2395-08	351794	32352168	18952398	593	10569											
CSF2RB	1439	broad.mit.edu	37	chr22	37333546	37333546	+	Frame_Shift_Del	DEL	C	C	-																															cagatctacccacagagcagCcccccagcccccagccaggc																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:37333546delC	uc003aqa.4	+	13	1913	c.1696delC	c.(1696-1698)cccfs	p.P566fs	CSF2RB_uc003aqc.4_Frame_Shift_Del_p.P572fs	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	566					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CACAGAGCAGCCCCCCAGCCC	0.637													7	52	---	---	---	---						-	37333546	C	-	37333546	7	5	241	1	0	1	0	1	0	0	0	0	3935	739	26	0	1746	0	CSF2RB	22	37333546	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	4981378	37333546	13971020	594	10570											
ELFN2	114794	broad.mit.edu	37	chr22	37770333	37770333	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcgcaggcagtagtacacGgctcccagcacgataaccat	11	7	10	13	3	0	0	0	0	0	0	1	1	1	0	2	2	4	6	2	2	3	4	rs144585839		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:37770333G>A	uc003asq.4	-	2	2028	c.1242C>T	c.(1240-1242)gcC>gcT	p.A414A	ELFN2_uc021wph.1_Silent_p.A414A	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	414						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					AGTAGTACACGGCTCCCAGCA	0.607													56	115					0	0	1	0	0	A	37770333	G	A	37770333	2	1	241	1	0	0	0	0	0	0	0	1	5058	1103	39	2		2	ELFN2	22	37770333	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	436787	37770333	13534233	595	10571											
MFNG	4242	broad.mit.edu	37	chr22	37882079	37882079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtagcttagggggccccGggttcggctggctcagctcg	3	9	17	12	3	1	0	1	0	0	0	3	0	1	0	2	5	2	7	2	5	2	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:37882079G>A	uc003ass.2	-	0	400	c.137C>T	c.(136-138)cCg>cTg	p.P46L	MFNG_uc011anj.2_Missense_Mutation_p.P46L|MFNG_uc011ani.2_5'UTR|CARD10_uc003ast.1_Intron	NM_002405	NP_002396	O00587	MFNG_HUMAN	Homo sapiens MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (MFNG), transcript variant 1, mRNA.	46					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					AGGGGGCCCCGGGTTCGGCTG	0.632													22	111					0	0	1	0	0	A	37882079	G	A	37882079	3	1	241	1	0	0	0	0	1	0	0	0	9525	1116	39	2	867	2	MFNG	22	37882079	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	111746	37882079	13422487	596	10572											
SH3BP1	23616	broad.mit.edu	37	chr22	38051660	38051660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctatcccccctcagccccGccccaggagccttgcctcag	6	6	8	21	1	2	0	2	0	0	0	3	1	3	1	9	1	4	1	9	1	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:38051660G>A	uc003ati.3	+	17	2813	c.2075G>A	c.(2074-2076)cGc>cAc	p.R692H	SH3BP1_uc003atg.1_Intron|SH3BP1_uc003ath.1_Intron|SH3BP1_uc003atj.1_Intron|SH3BP1_uc003atk.1_Intron|AK097791_uc003atl.1_Intron	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	Homo sapiens SH3-domain binding protein 1 (SH3BP1), mRNA.	692					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CCTCAGCCCCGCCCCAGGAGC	0.677													8	7					0	0	1	0	0	A	38051660	G	A	38051660	3	1	241	1	0	0	0	0	1	0	0	0	14244	1087	38	1	2145	1	SH3BP1	22	38051660	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	169581	38051660	13252906	597	10573											
CACNA1I	8911	broad.mit.edu	37	chr22	40043868	40043868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagatgaagggagacatctcGgaagccggcattgccagact	12	6	14	9	2	1	4	0	1	1	3	2	7	1	5	2	3	2	1	2	3	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:40043868G>A	uc003ayc.3	+	8	1504	c.1504G>A	c.(1504-1506)Gga>Aga	p.G502R	CACNA1I_uc003ayd.3_Intron|CACNA1I_uc003aye.3_Missense_Mutation_p.G417R|CACNA1I_uc003ayf.3_Intron	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	502					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	gaGACATCTCGGAAGCCGGCA	0.562													29	66					0	0	1	0	0	A	40043868	G	A	40043868	3	1	241	1	0	0	0	0	1	0	0	0	2546	1117	39	2	1538	2	CACNA1I	22	40043868	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1992208	40043868	11260698	598	10574											
TNRC6B	23112	broad.mit.edu	37	chr22	40662440	40662440	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaggggtggggaggtggaCgccagcccaatcaaggatgg	10	5	18	8	1	2	0	2	0	0	0	2	3	2	3	2	8	1	0	2	8	2	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:40662440C>T	uc011aor.2	+	4	2417	c.2206C>T	c.(2206-2208)Cgc>Tgc	p.R736C	TNRC6B_uc003aym.3_Intron|TNRC6B_uc003ayn.4_Missense_Mutation_p.R736C|TNRC6B_uc003ayo.3_Missense_Mutation_p.R540C	NM_001162501	NP_001155973	Q9UPQ9	TNR6B_HUMAN	Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA.	736					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	RNA binding|nucleotide binding			breast(1)	1						GGGAGGTGGACGCCAGCCCAA	0.502													9	21					0	0	1	0	0	T	40662440	C	T	40662440	3	4	241	1	0	0	0	0	1	0	0	0	16338	536	19	1	2345	1	TNRC6B	22	40662440	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	618572	40662440	10642126	599	10575											
SGSM3	27352	broad.mit.edu	37	chr22	40803287	40803287	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgggaagccatcctgcgCgtggcacgccacttccagtg	6	7	12	16	4	0	0	0	0	0	0	3	1	3	1	5	2	2	1	5	2	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:40803287C>T	uc003ayu.1	+	11	1532	c.1323C>T	c.(1321-1323)cgC>cgT	p.R441R	SGSM3_uc011aos.1_Silent_p.R374R|SGSM3_uc011aot.1_Silent_p.R378R	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	Homo sapiens small G protein signaling modulator 3 (SGSM3), mRNA.	441					Rap protein signal transduction|cell cycle arrest	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						CCATCCTGCGCGTGGCACGCC	0.617													43	85					0	0	1	0	0	T	40803287	C	T	40803287	2	4	241	1	0	0	0	0	0	0	0	1	14224	755	27	1		1	SGSM3	22	40803287	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	140847	40803287	10501279	600	10576											
L3MBTL2	83746	broad.mit.edu	37	chr22	41620136	41620136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacacagtaatcgggggtcGcctacggctcctctacgagg	8	7	14	12	4	1	0	0	0	1	0	4	2	2	1	2	5	2	2	2	5	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:41620136G>A	uc003azo.3	+	8	1109	c.1055G>A	c.(1054-1056)cGc>cAc	p.R352H	L3MBTL2_uc010gyi.1_Missense_Mutation_p.R261H|L3MBTL2_uc003azn.3_Non-coding_Transcript	NM_031488	NP_113676	Q969R5	LMBL2_HUMAN	Homo sapiens l(3)mbt-like 2 (Drosophila) (L3MBTL2), mRNA.	352					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATCGGGGGTCGCCTACGGCTC	0.607													45	88					0	0	1	0	0	A	41620136	G	A	41620136	3	1	241	1	0	0	0	0	1	0	0	0	8592	1087	38	1	1089	1	L3MBTL2	22	41620136	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	816849	41620136	9684430	601	10577											
FBLN1	2192	broad.mit.edu	37	chr22	45914668	45914668	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acggaatccaaagaatgcagGtacgtttgccagtggccact	12	8	11	10	2	0	1	0	0	0	1	1	2	1	2	3	3	3	3	3	3	4	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:45914668G>A	uc010gzz.3	+	2	332	c.185_splice	c.e2+1	p.R62_splice	FBLN1_uc003bgg.1_Splice_Site_p.R62_splice|FBLN1_uc003bgh.3_Splice_Site_p.R62_splice|FBLN1_uc003bgi.1_Splice_Site_p.R62_splice|FBLN1_uc003bgj.1_Splice_Site_p.R62_splice	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	62	Anaphylatoxin-like 1.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AAGAATGCAGGTACGTTTGCC	0.567													14	14					0	0	1	0	0	A	45914668	G	A	45914668	5	1	241	1	0	0	0	0	0	0	1	0	5698	1275	44	3	192	3	FBLN1	22	45914668	Splice_Site	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4294532	45914668	5389898	602	10578											
CELSR1	9620	broad.mit.edu	37	chr22	46776725	46776725	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgcagacaggcttggttcGctcctccacctccagcaggg	7	7	11	16	2	0	1	0	0	0	1	4	1	3	1	4	3	1	5	4	3	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:46776725G>A	uc003bhw.1	-	21	7216	c.7216C>T	c.(7216-7218)Cga>Tga	p.R2406*	CELSR1_uc011arc.1_Nonsense_Mutation_p.R727*	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	2406					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGCTTGGTTCGCTCCTCCACC	0.667													23	102					0	0	1	0	0	A	46776725	G	A	46776725	4	1	241	1	0	0	0	0	0	1	0	0	3221	1095	38	1	1884	1	CELSR1	22	46776725	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	862057	46776725	4527841	603	10579											
CELSR1	9620	broad.mit.edu	37	chr22	46806347	46806347	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgtccacatttttgccGtcgactgacaggttccgcat	7	12	9	13	3	0	1	0	1	0	0	3	2	2	1	4	1	1	2	4	1	0	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:46806347G>A	uc003bhw.1	-	6	4881	c.4881C>T	c.(4879-4881)gaC>gaT	p.D1627D	CELSR1_uc011arc.1_5'Flank	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1627	Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CATTTTTGCCGTCGACTGACA	0.632													76	132					0	0	1	0	0	A	46806347	G	A	46806347	2	1	241	1	0	0	0	0	0	0	0	1	3221	1136	40	1		1	CELSR1	22	46806347	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	29622	46806347	4498219	604	10580											
TYMP	1890	broad.mit.edu	37	chr22	50967656	50967656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtccacaagctgctggCgccaggcctctggccactcc	5	8	11	17	1	1	0	0	0	1	0	3	0	3	0	5	3	2	3	5	3	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:50967656C>T	uc003bme.4	-	2	518	c.326G>A	c.(325-327)cGc>cAc	p.R109H	SCO2_uc021wsa.1_5'Flank|TYMP_uc003bmb.4_Missense_Mutation_p.R109H|TYMP_uc003bmc.4_Missense_Mutation_p.R109H|TYMP_uc010hbd.3_Missense_Mutation_p.R109H|TYMP_uc003bmd.4_Missense_Mutation_p.R109H|TYMP_uc011arz.1_Missense_Mutation_p.R109H	NM_001953	NP_001944	P19971	TYPH_HUMAN	Homo sapiens thymidine phosphorylase (TYMP), transcript variant 2, mRNA.	109					DNA replication|angiogenesis|cell differentiation|chemotaxis|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)	AAGCTGCTGGCGCCAGGCCTC	0.642													38	87					0	0	1	0	0	T	50967656	C	T	50967656	3	4	241	1	0	0	0	0	1	0	0	0	16808	768	27	1	1154	1	TYMP	22	50967656	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4161309	50967656	336910	605	10581											
ASMTL	8623	broad.mit.edu	37	chrX	1536976	1536976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcatacgagggtactcaCgggccagctctcgggccagt	7	7	13	14	3	2	0	1	0	1	0	3	1	2	0	3	3	4	3	3	3	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:1536976C>T	uc004cpx.2	-	10	1549	c.1412G>A	c.(1411-1413)cGt>cAt	p.R471H	CRLF2_uc022brt.1_Intron|ASMTL_uc004cpy.2_Missense_Mutation_p.R455H|ASMTL_uc011mhe.2_Missense_Mutation_p.R395H|ASMTL_uc011mhf.2_Missense_Mutation_p.R413H	NM_004192	NP_001166944	O95671	ASML_HUMAN	Homo sapiens acetylserotonin O-methyltransferase-like (ASMTL), transcript variant 1, mRNA.	471	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGGTACTCACGGGCCAGCTC	0.612													15	45					0	0	1	0	0	T	1536976	C	T	1536976	3	4	241	1	0	0	0	0	1	0	0	0	1046	536	19	1	465	1	ASMTL	23	1536976	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08		1536976	153733584	606	10582											
SHROOM2	357	broad.mit.edu	37	chrX	9900853	9900853	+	Frame_Shift_Del	DEL	C	C	-																															ctccccctcgccccagttcgCcccccagaaactgacggaca																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:9900853delC	uc004csu.1	+	5	3620	c.3530delC	c.(3529-3531)gccfs	p.A1177fs	SHROOM2_uc004csv.2_Frame_Shift_Del_p.A12fs|SHROOM2_uc011mic.1_Frame_Shift_Del_p.A12fs|SHROOM2_uc004csw.1_Frame_Shift_Del_p.A12fs	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	1177					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCCCAGTTCGCCCCCCAGAAA	0.627													23	43	---	---	---	---						-	9900853	C	-	9900853	7	5	241	1	0	1	0	1	0	0	0	0	14294	739	26	0	3552	0	SHROOM2	23	9900853	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	8363877	9900853	145369707	607	10583											
FANCB	2187	broad.mit.edu	37	chrX	14883271	14883271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcctagtttaaaactcaaaCgcatttcaaatttattagta	16	14	4	7	1	2	0	2	0	0	0	2	0	2	0	1	0	3	3	1	0	8	8	rs142289802	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:14883271C>T	uc004cwg.1	-	2	630	c.362G>A	c.(361-363)cGt>cAt	p.R121H	FANCB_uc004cwh.1_Missense_Mutation_p.R121H	NM_001018113	NP_689846	Q8NB91	FANCB_HUMAN	Homo sapiens Fanconi anemia, complementation group B (FANCB), transcript variant 1, mRNA.	121					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					AAAACTCAAACGCATTTCAAA	0.313								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				20	7					0	0	1	0	0	T	14883271	C	T	14883271	3	4	241	1	0	0	0	0	1	0	0	0	5663	536	19	1	2249	1	FANCB	23	14883271	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4982418	14883271	140387289	608	10584											
ACOT9	23597	broad.mit.edu	37	chrX	23723697	23723698	+	Frame_Shift_Ins	INS	-	-	A																															aaccaccaaagatccgattgINSaaaatgttccgctcctacag																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:23723697_23723698insA	uc004dao.3	-	12	1093_1094	c.947_948insT	c.(946-948)ttcfs	p.F316fs	ACOT9_uc004dan.3_Frame_Shift_Ins_p.F57fs|ACOT9_uc004dap.3_Frame_Shift_Ins_p.F307fs|ACOT9_uc011mjt.2_Non-coding_Transcript|ACOT9_uc004dar.3_Frame_Shift_Ins_p.F247fs	NM_001037171	NP_001032248	Q9Y305	ACOT9_HUMAN	Homo sapiens acyl-CoA thioesterase 9 (ACOT9), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	307					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						AGATCCGATTGAAAATGTTCCG	0.401													97	36	---	---	---	---						A	23723698	-	A	23723697	7	5	241	1	0	1	1	0	0	0	0	0	157	1281	45	0	414	0	ACOT9	23	23723697	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	8840426	23723697	131546863	609	10585											
MAGEB6	158809	broad.mit.edu	37	chrX	26212350	26212350	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatatgatgtggctgccaaCggccaagatgagaaaagtcc	15	7	11	8	1	0	3	0	2	0	2	1	4	1	3	3	2	2	1	3	2	6	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:26212350C>T	uc022buc.1	+	0	387	c.387C>T	c.(385-387)aaC>aaT	p.N129N	MAGEB6_uc004dbr.3_Silent_p.N129N	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	129	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TGGCTGCCAACGGCCAAGATG	0.557													78	18					0	0	1	0	0	T	26212350	C	T	26212350	2	4	241	1	0	0	0	0	0	0	0	1	9179	535	19	1		1	MAGEB6	23	26212350	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2488653	26212350	129058210	610	10586											
FAM47A	158724	broad.mit.edu	37	chrX	34149532	34149532	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccaggctctgtgggttcGtcagttgtcttctcccggcc	3	14	11	13	2	4	0	1	0	3	0	6	0	4	0	3	3	1	3	3	3	1	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:34149532G>A	uc004ddg.3	-	0	916	c.864C>T	c.(862-864)gaC>gaT	p.D288D		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	288										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CTGTGGGTTCGTCAGTTGTCT	0.577													13	29					0	0	1	0	0	A	34149532	G	A	34149532	2	1	241	1	0	0	0	0	0	0	0	1	5569	1136	40	1		1	FAM47A	23	34149532	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	7937182	34149532	121121028	611	10587											
RGN	9104	broad.mit.edu	37	chrX	46951573	46951573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccgggatgggatggaccccGagggtcttttgaggcaacct	7	8	15	11	2	1	1	0	1	1	0	1	5	1	4	4	5	1	1	4	5	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:46951573G>A	uc004dgz.1	+	6	1777	c.808G>A	c.(808-810)Gag>Aag	p.E270K	RGN_uc004dha.1_Missense_Mutation_p.E270K|RGN_uc010nho.1_Missense_Mutation_p.E217K|RGN_uc010nhp.1_Missense_Mutation_p.E198K	NM_152869	NP_690608	Q15493	RGN_HUMAN	Homo sapiens regucalcin (senescence marker protein-30) (RGN), transcript variant 2, mRNA.	270					cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						GATGGACCCCGAGGGTCTTTT	0.463													12	2					0	0	1	0	0	A	46951573	G	A	46951573	3	1	241	1	0	0	0	0	1	0	0	0	13282	1059	37	2	826	2	RGN	23	46951573	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	12802041	46951573	108318987	612	10588											
CACNA1F	778	broad.mit.edu	37	chrX	49088267	49088267	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgctgtgctggtttcttcGcttaggggtccctaggcctg	2	15	13	11	1	1	0	0	0	1	0	3	0	2	0	2	4	2	4	2	4	2	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:49088267G>A	uc004dnb.3	-	1	210	c.148C>T	c.(148-150)Cga>Tga	p.R50*	CACNA1F_uc010nip.3_Nonsense_Mutation_p.R50*	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	50					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TGGTTTCTTCGCTTAGGGGTC	0.652													6	17					0	0	1	0	0	A	49088267	G	A	49088267	4	1	241	1	0	0	0	0	0	1	0	0	2543	1095	38	1	5973	1	CACNA1F	23	49088267	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2136694	49088267	106182293	613	10589											
DGKK	139189	broad.mit.edu	37	chrX	50147116	50147116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacattgcagtgctgggtccGgtggctgtaactggagtacc	8	10	14	9	1	0	0	0	0	0	0	1	1	1	1	2	4	5	5	2	4	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:50147116G>A	uc010njr.2	-	4	1053	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	337					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)					TGCTGGGTCCGGTGGCTGTAA	0.438													19	9					0	0	1	0	0	A	50147116	G	A	50147116	3	1	241	1	0	0	0	0	1	0	0	0	4472	1115	39	2	2901	2	DGKK	23	50147116	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1058849	50147116	105123444	614	10590											
ARHGEF9	23229	broad.mit.edu	37	chrX	62857963	62857963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccagaatggtgactggctgCgcttgggttcggtgaactca	7	10	15	9	2	1	3	1	2	0	1	2	3	1	3	1	4	2	3	1	4	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:62857963C>T	uc004dvl.2	-	9	2335	c.1496G>A	c.(1495-1497)cGc>cAc	p.R499H	ARHGEF9_uc011mos.1_Missense_Mutation_p.R478H|ARHGEF9_uc004dvk.1_Missense_Mutation_p.R317H|ARHGEF9_uc004dvm.1_Missense_Mutation_p.R478H|ARHGEF9_uc004dvj.2_Missense_Mutation_p.R397H|ARHGEF9_uc011mot.2_Missense_Mutation_p.R446H	NM_015185	NP_001166951	O43307	ARHG9_HUMAN	Homo sapiens Cdc42 guanine nucleotide exchange factor (GEF) 9 (ARHGEF9), transcript variant 1, mRNA.	499					apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	p.R497H(2)|p.R499H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TGACTGGCTGCGCTTGGGTTC	0.493													7	14					0	0	1	0	0	T	62857963	C	T	62857963	3	4	241	1	0	0	0	0	1	0	0	0	912	768	27	1	58	1	ARHGEF9	23	62857963	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	12710847	62857963	92412597	615	10591											
HEPH	9843	broad.mit.edu	37	chrX	65427138	65427138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtacattcaggatccctcGgccaaggactggaccagaag	11	7	12	11	1	1	1	1	0	0	1	3	4	2	4	3	5	1	1	3	5	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:65427138G>A	uc011moz.2	+	13	2692	c.2555G>A	c.(2554-2556)cGg>cAg	p.R852Q	HEPH_uc004dwn.3_Missense_Mutation_p.R801Q|HEPH_uc004dwo.3_Missense_Mutation_p.R531Q|HEPH_uc010nkr.3_Missense_Mutation_p.R609Q|HEPH_uc011mpa.2_Missense_Mutation_p.R801Q|HEPH_uc010nks.3_Missense_Mutation_p.R90Q	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	798	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.A852V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AGGATCCCTCGGCCAAGGACT	0.478													5	18					0	0	1	0	0	A	65427138	G	A	65427138	3	1	241	1	0	0	0	0	1	0	0	0	7054	1116	39	2	2609	2	HEPH	23	65427138	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2569175	65427138	89843422	616	10592											
ZMYM3	9203	broad.mit.edu	37	chrX	70464210	70464210	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttggcatattttgactgcacCcagcacttccaagcattgac	10	12	7	12	0	0	2	0	2	0	0	1	2	1	2	2	1	3	4	2	1	2	6			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:70464210C>A	uc004dzh.2	-	19	3401	c.3222G>T	c.(3220-3222)tgG>tgT	p.W1074C	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Missense_Mutation_p.W1074C|ZMYM3_uc004dzj.2_Missense_Mutation_p.W1062C	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	1074					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TTGACTGCACCCAGCACTTCC	0.557													19	22					4.96729e-08	5.01393e-08	1	1	0	A	70464210	C	A	70464210	3	1	241	1	0	0	0	0	1	0	0	0	17698	624	22	5	914	5	ZMYM3	23	70464210	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5037072	70464210	84806350	617	10593											
POU3F4	5456	broad.mit.edu	37	chrX	82764415	82764418	+	Frame_Shift_Del	DEL	CTGA	CTGA	-																															gacacatcttgccatgatctCtgactggaggaagcgaggag																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:82764415_82764418delCTGA	uc004eeg.2	+	0	1147_1150	c.1083_1086delCTGA	c.(1081-1086)ctctgafs	p.L361fs		NM_000307	NP_000298	P49335	PO3F4_HUMAN	Homo sapiens POU class 3 homeobox 4 (POU3F4), mRNA.	361					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						GCCATGATCTCTGACTGGAGGAAG	0.485													12	5	---	---	---	---						-	82764418	CTGA	-	82764415	7	5	241	1	0	1	0	1	0	0	0	0	12277	900	32	0	1085	0	POU3F4	23	82764415	Frame_Shift_Del	DEL	CTGA	TCGA-HT-8564-01A-11D-2395-08	12300205	82764415	72506145	618	10594											
POF1B	79983	broad.mit.edu	37	chrX	84563165	84563165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagatgtccaagctcctcccGtatgttgctaaatgtggaca	11	11	9	10	1	0	1	0	0	0	1	3	2	3	2	3	1	2	4	3	1	5	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:84563165G>A	uc004eer.2	-	9	1161	c.1015C>T	c.(1015-1017)Cgg>Tgg	p.R339W	POF1B_uc004ees.3_Missense_Mutation_p.R339W	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	339							actin binding	p.R339R(2)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						AGCTCCTCCCGTATGTTGCTA	0.358													46	11					0	0	1	0	0	A	84563165	G	A	84563165	3	1	241	1	0	0	0	0	1	0	0	0	12182	1144	40	1	786	1	POF1B	23	84563165	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1798750	84563165	70707395	619	10595											
IL1RAPL2	26280	broad.mit.edu	37	chrX	104999270	104999270	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtttgctcttgaagtacTgccagatgtcctggaaaaac	11	11	10	9	0	1	2	0	1	1	1	2	3	2	3	2	1	4	4	2	1	4	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:104999270T>A	uc004elz.1	+	9	2048	c.1292T>A	c.(1291-1293)cTg>cAg	p.L431Q		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	431	TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTTGAAGTACTGCCAGATGTC	0.378													30	101					0	0	1	0	0	A	104999270	T	A	104999270	3	1	241	1	0	0	0	0	1	0	0	0	7662	1580	55	5	1326	5	IL1RAPL2	23	104999270	Missense_Mutation	SNP	T	TCGA-HT-8564-01A-11D-2395-08	20436105	104999270	50271290	620	10596											
IRS4	8471	broad.mit.edu	37	chrX	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C																															tcccacttcctgagcctttgINSccccccccagagttcttgcc																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:107977802_107977803insC	uc004eoc.2	-	0	1805_1806	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	591						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545													8	564	---	---	---	---						C	107977803	-	C	107977802	7	5	241	1	0	1	1	0	0	0	0	0	7842	1306	46	0	2004	0	IRS4	23	107977802	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	2978532	107977802	47292758	621	10597											
SLC6A14	11254	broad.mit.edu	37	chrX	115582769	115582770	+	Frame_Shift_Ins	INS	-	-	T																															cgtgtttgctggatttgctaINSttttttctatattgggacac																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:115582769_115582770insT	uc004eqi.3	+	7	1224_1225	c.1093_1094insT	c.(1093-1095)attfs	p.I365fs		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	365					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TGGATTTGCTATTTTTTCTATA	0.332													157	49	---	---	---	---						T	115582770	-	T	115582769	7	5	241	1	0	1	1	0	0	0	0	0	14677	449	16	0	1123	0	SLC6A14	23	115582769	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	7604967	115582769	39687791	622	10598											
MST4	51765	broad.mit.edu	37	chrX	131208175	131208175	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttataggtgttcagcagaCgaatccccctaagaaactta	13	12	7	9	1	1	2	1	0	0	2	2	3	2	2	2	1	2	2	2	1	6	6			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:131208175C>T	uc004ewk.1	+	11	1540	c.1239C>T	c.(1237-1239)gaC>gaT	p.D413D	MST4_uc004ewl.1_Silent_p.D336D|MST4_uc011mux.1_Silent_p.D435D|MST4_uc010nrj.1_Silent_p.D389D|MST4_uc004ewm.1_Silent_p.D351D	NM_016542	NP_057626	Q9P289	MST4_HUMAN	Homo sapiens serine/threonine protein kinase MST4 (MST4), transcript variant 1, mRNA.	413					cellular component disassembly involved in apoptosis|regulation of apoptosis	Golgi membrane|cytosol	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	p.D413D(2)		endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					GTTCAGCAGACGAATCCCCCT	0.363													124	21					0	0	1	0	0	T	131208175	C	T	131208175	2	4	241	1	0	0	0	0	0	0	0	1	9892	535	19	1		1	MST4	23	131208175	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	15625406	131208175	24062385	623	10599											
USP26	83844	broad.mit.edu	37	chrX	132161205	132161205	+	Frame_Shift_Del	DEL	A	A	-																															tctatattataggtatctttAaaaaaaagtagccgtgccaa																								rs61758857		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:132161205delA	uc011mvf.2	-	0	1096	c.1044delT	c.(1042-1044)tttfs	p.F348fs	USP26_uc010nrm.1_Frame_Shift_Del_p.F348fs	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	348					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.F348fs*7(2)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					AGGTATCTTTAAAAAAAAGTA	0.388													84	37	---	---	---	---						-	132161205	A	-	132161205	7	5	241	1	0	1	0	1	0	0	0	0	17054	359	13	0	1700	0	USP26	23	132161205	Frame_Shift_Del	DEL	A	TCGA-HT-8564-01A-11D-2395-08	953030	132161205	23109355	624	10600											
ATP11C	286410	broad.mit.edu	37	chrX	138869332	138869334	+	Splice_Site	DEL	TCT	TCT	-																															tcaaacacagagctacttacTcttctatttcttttctttgg																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:138869332_138869334delTCT	uc004faz.3	-	15	1700	c.1601_splice	c.e15+1	p.E534_splice	ATP11C_uc004fay.3_Splice_Site|ATP11C_uc004fba.3_Splice_Site_p.E534_splice	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	534					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AGCTACTTACTCTTCTATTTCTT	0.345													28	14	---	---	---	---						-	138869334	TCT	-	138869332	8	5	241	1	0	1	0	1	0	0	1	0	1121	1565	54	0	1924	0	ATP11C	23	138869332	Splice_Site	DEL	TCT	TCGA-HT-8564-01A-11D-2395-08	6708127	138869332	16401228	625	10601											
GDI1	2664	broad.mit.edu	37	chrX	153670771	153670771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgatgatggttgtgagaGccaggtaagcagctcgtccc	9	10	13	9	1	0	3	0	3	0	1	2	4	1	3	2	2	3	4	2	2	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:153670771G>A	uc004fli.4	+	9	1529	c.1187G>A	c.(1186-1188)aGc>aAc	p.S396N	GDI1_uc004flj.3_Missense_Mutation_p.S61N|FAM50A_uc004fll.4_5'Flank	NM_001493	NP_001484	P31150	GDIA_HUMAN	Homo sapiens GDP dissociation inhibitor 1 (GDI1), mRNA.	396					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTTGTGAGAGCCAGGTAAGC	0.612													131	31					0	0	1	0	0	A	153670771	G	A	153670771	3	1	241	1	0	0	0	0	1	0	0	0	6320	971	34	3	1225	3	GDI1	23	153670771	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	14801439	153670771	1599789	626	10602											
FAM50A	9130	broad.mit.edu	37	chrX	153678435	153678437	+	In_Frame_Del	DEL	GGA	GGA	-																															ttgctcagtgacgccactgtGgagaaggatgaggtacagcg																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:153678435_153678437delGGA	uc004fll.4	+	10	998_1000	c.888_890delGGA	c.(886-891)gtggag>gtg	p.E297del		NM_004699	NP_004690	Q14320	FA50A_HUMAN	Homo sapiens family with sequence similarity 50, member A (FAM50A), mRNA.	297					spermatogenesis	nucleus		p.E297*(2)		breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACGCCACTGTGGAGAAGGATGAG	0.616													93	63	---	---	---	---						-	153678437	GGA	-	153678435	7	5	241	1	0	1	0	1	0	0	0	0	5577	1335	47	0	930	0	FAM50A	23	153678435	In_Frame_Del	DEL	GGA	TCGA-HT-8564-01A-11D-2395-08	7664	153678435	1592125	627	10603											
RERE	473	broad.mit.edu	37	chr1	8415150	8415150	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttaacaaataaataacttaTaactgcttgtcaccttcttt	14	16	3	8	0	2	0	1	0	1	0	2	0	2	0	1	0	4	2	1	0	7	8			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr1:8415150T>G	uc001ape.3	-	23	5508	c.4698A>C	c.(4696-4698)ttA>ttC	p.L1566F	RERE_uc001apf.3_Missense_Mutation_p.L1566F|RERE_uc001apd.3_Missense_Mutation_p.L1012F	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	1566					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AAATAACTTATAACTGCTTGT	0.438													17	14					0	0	1	0	0	G	8415150	T	G	8415150	3	3	242	1	0	0	0	0	1	0	0	0	13231	1403	49	5	6	5	RERE	1	8415150	Missense_Mutation	SNP	T	TCGA-HT-A4DS-01A-11D-A26M-08		8415150	240835471	1	10604											
EPHA8	2046	broad.mit.edu	37	chr1	22924293	22924293	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggacttcctgagcgaggcGtccatcatggggcaattcga	8	8	14	11	4	1	1	1	1	0	0	4	4	3	2	2	4	1	1	2	4	1	2			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr1:22924293G>A	uc001bfx.1	+	10	2180	c.2055G>A	c.(2053-2055)gcG>gcA	p.A685A		NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	685	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.A685G(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGAGCGAGGCGTCCATCATGG	0.662													71	56					0	0	1	0	0	A	22924293	G	A	22924293	2	1	242	1	0	0	0	0	0	0	0	1	5173	1132	40	1		1	EPHA8	1	22924293	Silent	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	14509143	22924293	226326328	2	10605											
C1orf130	400746	broad.mit.edu	37	chr1	24932146	24932146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagggccccaagccaaccGccccttctgccgtgggccca	7	4	10	20	2	1	0	0	0	1	0	1	0	1	0	9	2	3	0	9	2	3	1	rs113438005		TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr1:24932146G>A	uc001bjk.2	+	3	318	c.217G>A	c.(217-219)Gcc>Acc	p.A73T		NM_001010980	NP_001010980	Q5T1S8	CA130_HUMAN	Homo sapiens chromosome 1 open reading frame 130 (C1orf130), mRNA.	73						integral to membrane				large_intestine(1)	1		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0119)|all_lung(284;0.0154)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0439)|OV - Ovarian serous cystadenocarcinoma(117;1.48e-24)|Colorectal(126;6.93e-08)|COAD - Colon adenocarcinoma(152;3.69e-06)|GBM - Glioblastoma multiforme(114;0.00036)|BRCA - Breast invasive adenocarcinoma(304;0.00189)|KIRC - Kidney renal clear cell carcinoma(1967;0.00382)|STAD - Stomach adenocarcinoma(196;0.00521)|READ - Rectum adenocarcinoma(331;0.0659)|Lung(427;0.144)		CAAGCCAACCGCCCCTTCTGC	0.592													12	43					0	0	1	0	0	A	24932146	G	A	24932146	3	1	242	1	0	0	0	0	1	0	0	0	1997	1087	38	1	227	1	C1orf130	1	24932146	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	2007853	24932146	224318475	3	10606											
RUNX3	864	broad.mit.edu	37	chr1	25228881	25228881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtagaggtggtagggggacGggttggcctggaagggcccg	7	6	22	6	2	0	1	0	0	0	1	0	3	0	3	2	8	0	3	2	8	3	3			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr1:25228881G>A	uc009vrj.3	-	6	1268	c.1022C>T	c.(1021-1023)cCg>cTg	p.P341L	RUNX3_uc001bjq.3_Missense_Mutation_p.P327L|RUNX3_uc010oen.2_Missense_Mutation_p.P274L|RUNX3_uc001bjr.3_Missense_Mutation_p.P341L|RUNX3_uc001bjs.3_Non-coding_Transcript	NM_001031680	NP_001026850	Q13761	RUNX3_HUMAN	Homo sapiens runt-related transcription factor 3 (RUNX3), transcript variant 1, mRNA.	327	Pro/Ser/Thr-rich.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GTAGGGGGACGGGTTGGCCTG	0.692													10	34					0	0	1	0	0	A	25228881	G	A	25228881	3	1	242	1	0	0	0	0	1	0	0	0	13749	1116	39	2	271	2	RUNX3	1	25228881	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	296735	25228881	224021740	4	10607											
IPO9	55705	broad.mit.edu	37	chr1	201824023	201824023	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagattctgcctattgttTggaacaccctaaccgagagt	11	11	9	10	1	1	2	0	0	1	2	1	4	1	3	3	1	4	2	3	1	3	5			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr1:201824023T>C	uc001gwz.3	+	7	933	c.883T>C	c.(883-885)Tgg>Cgg	p.W295R		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	Homo sapiens importin 9 (IPO9), mRNA.	295					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	p.W295L(1)		cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						GCCTATTGTTTGGAACACCCT	0.448													13	63					0	0	1	0	0	C	201824023	T	C	201824023	3	2	242	1	0	0	0	0	1	0	0	0	7799	1812	63	3	913	3	IPO9	1	201824023	Missense_Mutation	SNP	T	TCGA-HT-A4DS-01A-11D-A26M-08	176595142	201824023	47426598	5	10608											
DYSF	8291	broad.mit.edu	37	chr2	71887771	71887771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccctgcacgctggagcccGtatttggaaagtaaattggg	9	10	12	10	2	0	0	0	0	0	0	1	2	1	2	3	3	2	4	3	3	4	4	rs147056383	by1000genomes	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr2:71887771G>A	uc010fen.3	+	44	5134	c.4993G>A	c.(4993-4995)Gta>Ata	p.V1665I	DYSF_uc010fei.3_Missense_Mutation_p.V1643I|DYSF_uc010feh.3_Missense_Mutation_p.V1633I|DYSF_uc002sig.4_Missense_Mutation_p.V1612I|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.V1657I|DYSF_uc010fee.3_Missense_Mutation_p.V1647I|DYSF_uc010fef.3_Missense_Mutation_p.V1664I|DYSF_uc002sie.3_Missense_Mutation_p.V1626I|DYSF_uc010feo.3_Missense_Mutation_p.V1658I|DYSF_uc010fej.3_Missense_Mutation_p.V1634I|DYSF_uc010fel.3_Missense_Mutation_p.V1613I|DYSF_uc010fem.3_Missense_Mutation_p.V1648I|DYSF_uc002sif.3_Missense_Mutation_p.V1627I|DYSF_uc010fek.3_Missense_Mutation_p.V1644I|DYSF_uc010yqy.2_Missense_Mutation_p.V507I|DYSF_uc010yqz.2_Missense_Mutation_p.V387I	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1626						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCTGGAGCCCGTATTTGGAAA	0.507													5	28					0	0	1	0	0	A	71887771	G	A	71887771	3	1	242	1	0	0	0	0	1	0	0	0	4859	1145	40	1	5309	1	DYSF	2	71887771	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08		71887771	171311602	6	10609											
COL4A4	1286	broad.mit.edu	37	chr2	227876966	227876966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccaggagacccagggaCgccatccacacccctcctgc	9	3	10	19	1	0	1	0	0	0	1	2	3	2	2	7	3	1	0	7	3	0	0			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr2:227876966C>T	uc021vxr.1	-	43	4365	c.4264G>A	c.(4264-4266)Gtc>Atc	p.V1422I	COL4A4_uc021vxs.1_Missense_Mutation_p.V1419I	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1422	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GACCCAGGGACGCCATCCACA	0.567													15	31					0	0	1	0	0	T	227876966	C	T	227876966	3	4	242	1	0	0	0	0	1	0	0	0	3693	536	19	1	824	1	COL4A4	2	227876966	Missense_Mutation	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08	155989195	227876966	15322407	7	10610											
SAG	6295	broad.mit.edu	37	chr2	234235841	234235841	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagaggacaaaatccccaaGaagtaagagtatggttgcgg	16	6	13	6	1	0	3	0	0	0	3	1	5	1	4	2	3	1	3	2	3	7	3			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr2:234235841G>C	uc002vuh.2	+	6	898	c.510G>C	c.(508-510)aaG>aaC	p.K170N	SAG_uc010zmq.1_Missense_Mutation_p.K36N	NM_000541	NP_000532	P10523	ARRS_HUMAN	Homo sapiens S-antigen; retina and pineal gland (arrestin) (SAG), mRNA.	170					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		AAATCCCCAAGAAGTAAGAGT	0.552													69	50					0	0	1	0	0	C	234235841	G	C	234235841	3	2	242	1	0	0	0	0	1	0	0	0	13808	933	33	5	532	5	SAG	2	234235841	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	6358875	234235841	8963532	8	10611											
TTLL3	26140	broad.mit.edu	37	chr3	9870897	9870897	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctctatggcgctgacttcGtgttcggggaggacttccag	6	11	14	10	3	1	1	0	1	1	0	4	3	2	3	1	4	1	3	1	4	1	4			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr3:9870897G>A	uc003btg.3	+	9	1848	c.1372G>A	c.(1372-1374)Gtg>Atg	p.V458M	TTLL3_uc003btd.4_Missense_Mutation_p.V519M|TTLL3_uc003btc.2_Missense_Mutation_p.V102M|TTLL3_uc003btf.4_Missense_Mutation_p.V190M|TTLL3_uc010hco.1_Missense_Mutation_p.V394M|TTLL3_uc003bth.4_Missense_Mutation_p.V246M|TTLL3_uc011atj.2_Missense_Mutation_p.V394M|TTLL3_uc003btj.4_Missense_Mutation_p.V246M|TTLL3_uc003bti.4_Missense_Mutation_p.V246M	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 3 (TTLL3), transcript variant 1, mRNA.	458	TTL.				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					CGCTGACTTCGTGTTCGGGGA	0.617													33	21					0	0	1	0	0	A	9870897	G	A	9870897	3	1	242	1	0	0	0	0	1	0	0	0	16725	1145	40	1	1406	1	TTLL3	3	9870897	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08		9870897	188151533	9	10612											
ZNF654	55279	broad.mit.edu	37	chr3	88189554	88189554	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaaactattagtctgccagTttctactagcaaatcaagga	15	11	6	9	0	3	0	1	0	2	0	3	1	3	1	1	1	4	2	1	1	7	5			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr3:88189554T>C	uc003dqv.3	+	0	1293	c.1094T>C	c.(1093-1095)gTt>gCt	p.V365A	CGGBP1_uc003dqu.3_Intron	NM_018293	NP_060763	Q8IZM8	ZN654_HUMAN	Homo sapiens zinc finger protein 654 (ZNF654), mRNA.	365					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AGTCTGCCAGTTTCTACTAGC	0.358													6	15					0	0	1	0	0	C	88189554	T	C	88189554	3	2	242	1	0	0	0	0	1	0	0	0	18064	1725	60	3	1096	3	ZNF654	3	88189554	Missense_Mutation	SNP	T	TCGA-HT-A4DS-01A-11D-A26M-08	78318657	88189554	109832876	10	10613											
HRG	3273	broad.mit.edu	37	chr3	186383868	186383868	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatcacattgcagtattcGtgtgccgtgagtcccactga	8	13	10	10	2	1	3	1	3	0	0	3	3	2	3	2	0	2	2	2	0	1	4			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr3:186383868G>A	uc003fqq.3	+	0	71	c.48G>A	c.(46-48)tcG>tcA	p.S16S		NM_000412	NP_000403	P04196	HRG_HUMAN	Homo sapiens histidine-rich glycoprotein (HRG), mRNA.	16					fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding	p.S16L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		TGCAGTATTCGTGTGCCGTGA	0.468													12	40					0	0	1	0	0	A	186383868	G	A	186383868	2	1	242	1	0	0	0	0	0	0	0	1	7354	1132	40	1		1	HRG	3	186383868	Silent	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	98194314	186383868	11638562	11	10614											
SLC2A9	56606	broad.mit.edu	37	chr4	9987317	9987317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctatgcccatgatgaagcGtcccacgatgagcatttcaa	12	10	8	11	2	2	3	1	3	1	0	3	4	3	3	2	0	3	1	2	0	3	2			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr4:9987317G>A	uc003gmc.3	-	3	572	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	SLC2A9_uc003gmd.3_Missense_Mutation_p.R142C	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA.	171					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						ATGATGAAGCGTCCCACGATG	0.517													12	29					0	0	1	0	0	A	9987317	G	A	9987317	3	1	242	1	0	0	0	0	1	0	0	0	14552	1145	40	1	1147	1	SLC2A9	4	9987317	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08		9987317	181166959	12	10615											
MUC7	4589	broad.mit.edu	37	chr4	71347534	71347534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggccaaaataaaatttctcGatttcttttatatatgaaga	15	16	5	5	1	2	2	0	1	2	1	3	3	2	2	1	1	0	0	1	1	8	7	rs145866670		TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr4:71347534G>A	uc011cat.2	+	3	1361	c.1073G>A	c.(1072-1074)cGa>cAa	p.R358Q	MUC7_uc011cau.2_Missense_Mutation_p.R358Q|MUC7_uc003hfj.3_Missense_Mutation_p.R358Q	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	358						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AAAATTTCTCGATTTCTTTTA	0.358													14	24					0	0	1	0	0	A	71347534	G	A	71347534	3	1	242	1	0	0	0	0	1	0	0	0	9981	1058	37	2	1079	2	MUC7	4	71347534	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	61360217	71347534	119806742	13	10616											
FRAS1	80144	broad.mit.edu	37	chr4	79387412	79387412	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctccacgccatggcaccatCgagcgaaccagcaatgggca	11	4	10	16	3	0	0	0	0	0	0	2	2	1	0	5	2	3	3	5	2	2	0			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr4:79387412C>T	uc003hlb.2	+	49	7520	c.7080C>T	c.(7078-7080)atC>atT	p.I2360I		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2359					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATGGCACCATCGAGCGAACCA	0.547													24	54					0	0	1	0	0	T	79387412	C	T	79387412	2	4	242	1	0	0	0	0	0	0	0	1	6042	874	31	2		2	FRAS1	4	79387412	Silent	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08	8039878	79387412	111766864	14	10617											
SLC6A19	340024	broad.mit.edu	37	chr5	1217005	1217005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaacgcctccgaccccgCggcctacgcgcagctggtgt	5	6	13	17	6	0	0	0	0	0	0	1	1	1	0	5	2	4	3	5	2	2	1			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:1217005C>T	uc003jbw.4	+	7	1174	c.1118C>T	c.(1117-1119)gCg>gTg	p.A373V		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	373					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.A373V(2)|p.P372P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCCGACCCCGCGGCCTACGCG	0.622													53	128					0	0	1	0	0	T	1217005	C	T	1217005	3	4	242	1	0	0	0	0	1	0	0	0	14682	768	27	1	1148	1	SLC6A19	5	1217005	Missense_Mutation	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08		1217005	179698255	15	10618											
ADAMTS16	170690	broad.mit.edu	37	chr5	5222929	5222929	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtaaagccctgtggtgccatCgtattggaaggaaatgtgag	11	10	14	6	1	0	1	0	1	0	0	1	3	0	3	2	3	2	2	2	3	5	3			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:5222929C>T	uc003jdl.3	+	10	1771	c.1633C>T	c.(1633-1635)Cgt>Tgt	p.R545C	ADAMTS16_uc003jdk.1_Missense_Mutation_p.R545C|ADAMTS16_uc003jdj.1_Missense_Mutation_p.R545C	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	545	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GTGGTGCCATCGTATTGGAAG	0.368													16	23					0	0	1	0	0	T	5222929	C	T	5222929	3	4	242	1	0	0	0	0	1	0	0	0	261	884	31	2	1675	2	ADAMTS16	5	5222929	Missense_Mutation	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08	4005924	5222929	175692331	16	10619											
PCDHAC2	56134	broad.mit.edu	37	chr5	140166983	140166983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccactcagcaccgtcatcGccctcatcaccgtgtctgac	7	9	6	19	3	5	1	4	1	1	0	7	1	6	1	4	0	1	1	4	0	0	0			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:140166983G>A	uc003lhb.2	+	0	1108	c.1108G>A	c.(1108-1110)Gcc>Acc	p.A370T	PCDHAC2_uc003lha.2_Missense_Mutation_p.A370T|PCDHAC2_uc003lgz.3_Missense_Mutation_p.A370T	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	385					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCGTCATCGCCCTCATCAC	0.527													14	46					0	0	1	0	0	A	140166983	G	A	140166983	3	1	242	1	0	0	0	0	1	0	0	0	11533	1087	38	1		1	PCDHAC2	5	140166983	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	134944054	140166983	40748277	17	10620											
PCDHAC2	56134	broad.mit.edu	37	chr5	140348188	140348188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtcatagctatggactcaGactctgggcaaaatgcttgg	12	10	11	8	0	3	1	2	0	1	1	3	2	3	2	0	3	2	3	0	3	5	3			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:140348188G>A	uc003lii.3	+	0	2442	c.1837G>A	c.(1837-1839)Gac>Aac	p.D613N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.D613N	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	613	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATGGACTCAGACTCTGGGCA	0.512													3	32					0	0	1	0	0	A	140348188	G	A	140348188	3	1	242	1	0	0	0	0	1	0	0	0	11533	942	33	3	1839	3	PCDHAC2	5	140348188	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	181205	140348188	40567072	18	10621											
GABRA6	2559	broad.mit.edu	37	chr5	161113291	161113291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacttctactcagaaaacGtcagtcggatcctggacaac	13	8	8	12	2	3	1	2	0	1	1	5	3	4	3	1	2	4	1	1	2	5	2			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:161113291G>A	uc003lyu.2	+	1	432	c.94G>A	c.(94-96)Gtc>Atc	p.V32I		NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	32					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTCAGAAAACGTCAGTCGGAT	0.488										TCGA Ovarian(5;0.080)			26	35					0	0	1	0	0	A	161113291	G	A	161113291	3	1	242	1	0	0	0	0	1	0	0	0	6165	1145	40	1	100	1	GABRA6	5	161113291	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	20765103	161113291	19801969	19	10622											
OR2V2	285659	broad.mit.edu	37	chr5	180582042	180582042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctcttctccgtggttatgGcggtcttcacagtggccctc	3	14	10	14	2	4	0	1	0	3	0	7	0	5	0	3	4	0	1	3	4	1	3			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:180582042G>A	uc011dhj.2	+	0	100	c.100G>A	c.(100-102)Gcg>Acg	p.A34T		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily V, member 2 (OR2V2), mRNA.	34			A -> V (in dbSNP:rs17617270).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGTGGTTATGGCGGTCTTCAC	0.537													38	84					0	0	1	0	0	A	180582042	G	A	180582042	3	1	242	1	0	0	0	0	1	0	0	0	11031	1203	42	3	102	3	OR2V2	5	180582042	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	19468751	180582042	333218	20	10623											
SOX4	6659	broad.mit.edu	37	chr6	21594838	21594838	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagctcggactcgggcgccGgcctcgagctgggaatcgcc	6	5	16	14	6	0	1	0	0	0	1	4	4	0	3	3	4	2	2	3	4	1	0			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr6:21594838G>T	uc003ndi.3	+	0	867	c.73G>T	c.(73-75)Ggc>Tgc	p.G25C		NM_003107	NP_003098	Q06945	SOX4_HUMAN	Homo sapiens SRY (sex determining region Y)-box 4 (SOX4), mRNA.	25					DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|T cell differentiation|canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development	mitochondrion|nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|core promoter sequence-specific DNA binding|protein binding			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			CTCGGGCGCCGGCCTCGAGCT	0.731													4	18					0.014758	0.0149886	1	1	0	T	21594838	G	T	21594838	3	4	242	1	0	0	0	0	1	0	0	0	14953	1116	39	5	75	5	SOX4	6	21594838	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08		21594838	149520229	21	10624											
MICB	4277	broad.mit.edu	37	chr6	31473467	31473467	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtcagggtttctcgctgaGggacatctggatggtcagcc	7	10	14	10	1	4	1	2	1	2	0	5	3	4	3	1	4	1	2	1	4	0	1			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr6:31473467G>A	uc003ntn.4	+	1	260	c.144G>A	c.(142-144)gaG>gaA	p.E48E	MICB_uc011dnm.2_Silent_p.E16E|MICB_uc021yuq.1_Silent_p.E16E|MICB_uc003nto.4_Silent_p.E48E	NM_005931	NP_005922	Q29980	MICB_HUMAN	Homo sapiens MHC class I polypeptide-related sequence B (MICB), mRNA.	48					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	MHC class I protein complex|integral to plasma membrane	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						TTCTCGCTGAGGGACATCTGG	0.557													25	21					0	0	1	0	0	A	31473467	G	A	31473467	2	1	242	1	0	0	0	0	0	0	0	1	9575	991	35	3		3	MICB	6	31473467	Silent	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	9878629	31473467	139641600	22	10625											
SNAP91	9892	broad.mit.edu	37	chr6	84284808	84284808	+	Frame_Shift_Del	DEL	T	T	-																															agttggctccaccagtcaacTttttctctccagcattccac																										TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr6:84284808delT	uc021zcf.1	-	24	2393	c.2363delA	c.(2362-2364)aagfs	p.K788fs	SNAP91_uc011dzd.2_Frame_Shift_Del_p.K286fs|SNAP91_uc003pka.3_Frame_Shift_Del_p.K786fs|SNAP91_uc011dze.2_Frame_Shift_Del_p.K786fs|SNAP91_uc003pkc.3_Frame_Shift_Del_p.K758fs|SNAP91_uc003pkd.3_Frame_Shift_Del_p.K481fs|SNAP91_uc003pkb.3_Frame_Shift_Del_p.K697fs	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	788					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		ACCAGTCAACTTTTTCTCTCC	0.453													2	4	---	---	---	---						-	84284808	T	-	84284808	7	5	242	1	0	1	0	1	0	0	0	0	14833	1609	56	0	376	0	SNAP91	6	84284808	Frame_Shift_Del	DEL	T	TCGA-HT-A4DS-01A-11D-A26M-08	52811341	84284808	86830259	23	10626											
PKD1L1	168507	broad.mit.edu	37	chr7	47851503	47851503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaggggacgagactccccGtagggaggatctccactctc	9	7	13	12	2	2	2	0	1	2	1	5	6	3	5	3	4	0	1	3	4	1	1			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr7:47851503G>A	uc003tny.2	-	49	7527	c.7493C>T	c.(7492-7494)aCg>aTg	p.T2498M	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.3_Missense_Mutation_p.T225M	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2498					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GAGACTCCCCGTAGGGAGGAT	0.582													7	22					0	0	1	0	0	A	47851503	G	A	47851503	3	1	242	1	0	0	0	0	1	0	0	0	11964	1145	40	1	1088	1	PKD1L1	7	47851503	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08		47851503	111287160	24	10627											
RP1L1	94137	broad.mit.edu	37	chr8	10470654	10470654	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctccacggacaggctgccGtcctcattcatgcggacctt	7	10	9	15	3	3	0	2	0	1	0	5	2	4	2	4	3	2	1	4	3	0	2			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr8:10470654G>A	uc003wtc.3	-	3	1183	c.954C>T	c.(952-954)gaC>gaT	p.D318D		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	318					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACAGGCTGCCGTCCTCATTCA	0.662													51	49					0	0	1	0	0	A	10470654	G	A	10470654	2	1	242	1	0	0	0	0	0	0	0	1	13533	1136	40	1		1	RP1L1	8	10470654	Silent	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08		10470654	135893368	25	10628											
LRRC32	2615	broad.mit.edu	37	chr11	76371628	76371628	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagcacagggaggtcaggtGctcaagaaagctgtcgggga	12	5	17	7	1	2	1	2	0	0	1	3	4	2	3	0	5	3	3	0	5	3	0			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr11:76371628G>T	uc001oxq.4	-	2	1252	c.1009C>A	c.(1009-1011)Cac>Aac	p.H337N	LRRC32_uc001oxr.4_Missense_Mutation_p.H337N|LRRC32_uc010rsf.2_Missense_Mutation_p.H337N	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	337						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GAGGTCAGGTGCTCAAGAAAG	0.587													9	17					0.00448238	0.00469927	1	1	0	T	76371628	G	T	76371628	3	4	242	1	0	0	0	0	1	0	0	0	8987	1319	46	5	983	5	LRRC32	11	76371628	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08		76371628	58634888	26	10629											
LTA4H	4048	broad.mit.edu	37	chr12	96410892	96410892	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agatatttcatgtgcaatgaCctaaagaaaacagtgtgatt	16	12	8	5	0	1	4	1	2	0	2	1	4	1	4	1	0	2	1	1	0	6	4			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr12:96410892C>G	uc001ten.1	-	10	945	c.877_splice	c.e10-1	p.V293_splice	LTA4H_uc010suy.1_Splice_Site_p.V255_splice|LTA4H_uc010suz.1_Splice_Site_p.V255_splice|LTA4H_uc010sva.1_Splice_Site|LTA4H_uc009ztj.3_5'Flank	NM_000895	NP_000886	P09960	LKHA4_HUMAN	Homo sapiens leukotriene A4 hydrolase (LTA4H), mRNA.	293					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						TGTGCAATGACCTAAAGAAAA	0.299													27	20					0	0	1	0	0	G	96410892	C	G	96410892	5	3	242	1	0	0	0	0	0	0	1	0	9069	521	18	5	998	5	LTA4H	12	96410892	Splice_Site	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08		96410892	37441003	27	10630											
TDG	6996	broad.mit.edu	37	chr12	104374741	104374741	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggacctggaaaccatttttGtaagtggttaccttttaaat	11	16	8	6	0	0	0	0	0	0	0	0	2	0	2	3	3	2	2	3	3	5	6			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr12:104374741G>T	uc001tkg.3	+	4	701	c.478_splice	c.e4+1	p.W160_splice	TDG_uc009zuk.3_Splice_Site_p.W156_splice|TDG_uc010swi.2_Splice_Site_p.W17_splice|TDG_uc010swj.2_Splice_Site	NM_003211	NP_003202	Q13569	TDG_HUMAN	Homo sapiens thymine-DNA glycosylase (TDG), mRNA.	160					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		AACCATTTTTGTAAGTGGTTA	0.318								Base excision repair (BER), DNA glycosylases					33	12					1.26612e-14	1.44382e-14	1	1	0	T	104374741	G	T	104374741	5	4	242	1	0	0	0	0	0	0	1	0	15722	1391	48	5	493	5	TDG	12	104374741	Splice_Site	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	7963849	104374741	29477154	28	10631											
PCNX	22990	broad.mit.edu	37	chr14	71444691	71444691	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggggatgttcgacctaaatCttctagcgtaatccatcgga	11	11	10	9	3	2	0	0	0	2	0	5	3	3	2	2	3	1	2	2	3	4	5			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr14:71444691C>T	uc001xmo.2	+	5	2083	c.1637C>T	c.(1636-1638)tCt>tTt	p.S546F	PCNX_uc001xmn.4_Missense_Mutation_p.S546F|PCNX_uc010are.1_Missense_Mutation_p.S546F	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	546						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CGACCTAAATCTTCTAGCGTA	0.468													22	22					0	0	1	0	0	T	71444691	C	T	71444691	3	4	242	1	0	0	0	0	1	0	0	0	11591	913	32	3	1659	3	PCNX	14	71444691	Missense_Mutation	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08		71444691	35904849	29	10632											
DYNC1H1	1778	broad.mit.edu	37	chr14	102474561	102474561	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgccaggtgggtgcctgggGctgctttgacgagttcaacc	5	11	15	10	1	1	1	1	1	0	0	1	2	1	1	3	4	4	3	3	4	1	3			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr14:102474561G>T	uc001yks.2	+	28	6028	c.5864G>T	c.(5863-5865)gGc>gTc	p.G1955V		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	1955	AAA 1 (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GGTGCCTGGGGCTGCTTTGAC	0.587													20	15					6.44725e-10	7.22537e-10	1	1	0	T	102474561	G	T	102474561	3	4	242	1	0	0	0	0	1	0	0	0	4841	1203	42	5	5978	5	DYNC1H1	14	102474561	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	31029870	102474561	4874979	30	10633											
OTUD7A	161725	broad.mit.edu	37	chr15	31776380	31776380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccggcgaagatgaacttgCgctccccctgcatggcggcg	6	6	15	14	5	0	2	0	1	0	1	1	3	1	2	3	4	3	2	3	4	2	1			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr15:31776380C>T	uc001zfq.3	-	10	1991	c.1898G>A	c.(1897-1899)cGc>cAc	p.R633H	OTUD7A_uc001zfr.3_Missense_Mutation_p.R640H	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	Homo sapiens OTU domain containing 7A (OTUD7A), mRNA.	633						cytoplasm|nucleus	DNA binding|cysteine-type peptidase activity|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GATGAACTTGCGCTCCCCCTG	0.672													5	11					0	0	1	0	0	T	31776380	C	T	31776380	3	4	242	1	0	0	0	0	1	0	0	0	11318	768	27	1	886	1	OTUD7A	15	31776380	Missense_Mutation	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08		31776380	70755012	31	10634											
HIRIP3	8479	broad.mit.edu	37	chr16	30006466	30006466	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctttttctctccgggtcgcTacaaggggtgggaggcctct	4	12	13	12	2	2	0	0	0	2	0	5	1	3	1	3	5	1	1	3	5	2	3			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr16:30006466T>C	uc002dve.3	-	2	750	c.259A>G	c.(259-261)Agc>Ggc	p.S87G	BOLA2_uc010bzb.1_Intron|INO80E_uc002dvg.1_5'Flank|INO80E_uc002dvh.1_5'Flank|HIRIP3_uc002dvf.3_Missense_Mutation_p.S87G	NM_003609	NP_003600	Q9BW71	HIRP3_HUMAN	Homo sapiens HIRA interacting protein 3 (HIRIP3), transcript variant 1, mRNA.	87					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TCCGGGTCGCTACAAGGGGTG	0.552													9	109					0	0	1	0	0	C	30006466	T	C	30006466	3	2	242	1	0	0	0	0	1	0	0	0	7121	1522	53	4	1431	4	HIRIP3	16	30006466	Missense_Mutation	SNP	T	TCGA-HT-A4DS-01A-11D-A26M-08		30006466	60348287	32	10635											
SPNS3	201305	broad.mit.edu	37	chr17	4356345	4356345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgaccatcatgaccggcGtcattggggtcatcttgggg	7	10	13	11	2	4	2	3	2	1	0	4	2	4	2	2	5	0	0	2	5	0	2			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr17:4356345G>A	uc002fxt.3	+	7	1002	c.958G>A	c.(958-960)Gtc>Atc	p.V320I	SPNS3_uc002fxu.3_Missense_Mutation_p.V193I	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA.	320					lipid transport|transmembrane transport	integral to membrane		p.V320I(2)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CATGACCGGCGTCATTGGGGT	0.572													36	18					0	0	1	0	0	A	4356345	G	A	4356345	3	1	242	1	0	0	0	0	1	0	0	0	15075	1145	40	1	988	1	SPNS3	17	4356345	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08		4356345	76838865	33	10636											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr17:7577120C>T	uc002gim.2	-	7	1012	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			5	3					0	0	1	0	0	T	7577120	C	T	7577120	3	4	242	1	0	0	0	0	1	0	0	0	16378	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08	3220775	7577120	73618090	34	10637											
NF1	4763	broad.mit.edu	37	chr17	29527568	29527569	+	Frame_Shift_Del	DEL	CT	CT	-																															tacatcaattgggaagataaCtctgtcattttcctacttgt																										TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr17:29527568_29527569delCT	uc002hgg.3	+	8	1400_1401	c.1017_1018delCT	c.(1015-1020)aactctfs	p.N339fs	NF1_uc002hge.2_Frame_Shift_Del_p.N339fs|NF1_uc002hgf.2_Frame_Shift_Del_p.N339fs|NF1_uc002hgh.3_Frame_Shift_Del_p.N339fs|NF1_uc010csn.2_Frame_Shift_Del_p.N199fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	339					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGGAAGATAACTCTGTCATTTT	0.381			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			17	8	---	---	---	---						-	29527569	CT	-	29527568	7	5	242	1	0	1	0	1	0	0	0	0	10356	564	20	0	1051	0	NF1	17	29527568	Frame_Shift_Del	DEL	CT	TCGA-HT-A4DS-01A-11D-A26M-08	21950448	29527568	51667642	35	10638											
LRRC59	55379	broad.mit.edu	37	chr17	48465454	48465454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccgccgctgcctctcccGctcctgatctgcctgcacgg	3	8	10	20	4	2	1	0	1	2	0	4	1	3	1	6	1	4	3	6	1	0	0	rs140038553		TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr17:48465454G>A	uc002iqt.3	-	4	705	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W		NM_018509	NP_060979	Q96AG4	LRC59_HUMAN	Homo sapiens leucine rich repeat containing 59 (LRRC59), mRNA.	157						endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TGCCTCTCCCGCTCCTGATCT	0.527													76	42					0	0	1	0	0	A	48465454	G	A	48465454	3	1	242	1	0	0	0	0	1	0	0	0	9015	1086	38	1	466	1	LRRC59	17	48465454	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	18937886	48465454	32729756	36	10639											
ST8SIA5	29906	broad.mit.edu	37	chr18	44260408	44260408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaaggcaggcagcagcaccGacgcgttctcgtacacctgc	10	5	12	14	4	1	1	0	0	1	1	2	2	1	1	2	2	4	6	2	2	2	2			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr18:44260408G>A	uc010xcy.1	-	7	1404	c.836C>T	c.(835-837)tCg>tTg	p.S279L	ST8SIA5_uc002lci.1_Missense_Mutation_p.S90L|ST8SIA5_uc002lcj.1_Missense_Mutation_p.S243L|ST8SIA5_uc010xcz.1_Missense_Mutation_p.S212L	NM_013305	NP_037437	O15466	SIA8E_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA.	243					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CAGCAGCACCGACGCGTTCTC	0.607													4	5					0	0	1	0	0	A	44260408	G	A	44260408	3	1	242	1	0	0	0	0	1	0	0	0	15234	1059	37	2	406	2	ST8SIA5	18	44260408	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08		44260408	33816840	37	10640											
GRIN3B	116444	broad.mit.edu	37	chr19	1004802	1004802	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttgcccgtgatccagaCgaagacgggcagtgcccagc	8	7	14	12	3	0	3	0	1	0	2	1	4	1	3	3	1	3	2	3	1	1	1	rs139557341		TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr19:1004802C>T	uc002lqo.1	+	2	1302	c.1302C>T	c.(1300-1302)gaC>gaT	p.D434D		NM_138690	NP_619635	O60391	NMD3B_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3B (GRIN3B), mRNA.	434					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GTGATCCAGACGAAGACGGGC	0.677													4	73					0	0	1	0	0	T	1004802	C	T	1004802	2	4	242	1	0	0	0	0	0	0	0	1	6784	535	19	1		1	GRIN3B	19	1004802	Silent	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08		1004802	58124181	38	10641											
BEST2	54831	broad.mit.edu	37	chr19	12866569	12866569	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagttcttcttctacgcCggctggctcaaggtaggtgg	5	13	13	10	2	4	0	1	0	3	0	4	0	4	0	1	5	2	5	1	5	3	6			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr19:12866569C>T	uc002mux.3	+	5	855	c.855C>T	c.(853-855)gcC>gcT	p.A285A		NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN	Homo sapiens bestrophin 2 (BEST2), mRNA.	285					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						TCTTCTACGCCGGCTGGCTCA	0.582													3	30					0	0	1	0	0	T	12866569	C	T	12866569	2	4	242	1	0	0	0	0	0	0	0	1	1405	639	23	2		2	BEST2	19	12866569	Silent	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08	11861767	12866569	46262414	39	10642											
ZNF536	9745	broad.mit.edu	37	chr19	31040264	31040264	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagcccaggaccccttggcGggcctgccaaagccggagcg	8	3	14	16	3	0	0	0	0	0	0	0	2	0	2	6	4	4	0	6	4	2	1			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr19:31040264G>A	uc002nsu.1	+	3	3876	c.3738G>A	c.(3736-3738)gcG>gcA	p.A1246A	ZNF536_uc010edd.1_Silent_p.A1246A	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.A1246A(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACCCCTTGGCGGGCCTGCCAA	0.632													12	15					0	0	1	0	0	A	31040264	G	A	31040264	2	1	242	1	0	0	0	0	0	0	0	1	17971	1103	39	2		2	ZNF536	19	31040264	Silent	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	18173695	31040264	28088719	40	10643											
EIF2C3	192669	broad.mit.edu	37	chr1	36479231	36479231	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaactttttctatttttagGtaagaagtgcaaattatgaa	15	16	6	4	0	1	2	0	1	1	1	1	2	1	2	0	1	2	2	0	1	8	8			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr1:36479231G>A	uc001bzp.3	+	10	1495	c.1150_splice	c.e10-1	p.V384_splice	EIF2C3_uc001bzq.3_Splice_Site_p.V150_splice	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 3 (EIF2C3), transcript variant 1, mRNA.	384					mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(11)|skin(1)|upper_aerodigestive_tract(4)	33		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTATTTTTAGGTAAGAAGTGC	0.363													3	44					0	0	1	0	0	A	36479231	G	A	36479231	5	1	243	1	0	0	0	0	0	0	1	0	5007	1275	44	3	1188	3	EIF2C3	1	36479231	Splice_Site	SNP	G	TCGA-HT-A4DV-01A-11D-A26M-08		36479231	212771390	1	10644											
DENND2C	163259	broad.mit.edu	37	chr1	115151483	115151483	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggttgcagttgtgctaagcGtttatggcgatctgtaatga	8	14	13	6	3	1	1	0	1	1	0	1	2	1	1	0	2	3	6	0	2	3	6			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr1:115151483G>A	uc001efd.1	-	9	2083	c.1381C>T	c.(1381-1383)Cgc>Tgc	p.R461C	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.R404C	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	461										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTGCTAAGCGTTTATGGCGA	0.438													7	21					0	0	1	0	0	A	115151483	G	A	115151483	3	1	243	1	0	0	0	0	1	0	0	0	4430	1145	40	1	1453	1	DENND2C	1	115151483	Missense_Mutation	SNP	G	TCGA-HT-A4DV-01A-11D-A26M-08	78672252	115151483	134099138	2	10645											
APOBEC4	403314	broad.mit.edu	37	chr1	183617594	183617594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgctgtcattattgtatatgGctgagtcaagataaccattc	11	15	8	7	0	2	2	2	1	0	1	3	2	2	2	1	1	2	3	1	1	5	6			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr1:183617594G>A	uc021pgc.1	-	0	323	c.323C>T	c.(322-324)gCc>gTc	p.A108V	RGL1_uc010pof.1_Intron|RGL1_uc001gqm.3_Intron|RGL1_uc010pog.2_Intron|RGL1_uc010poh.2_Intron|APOBEC4_uc001gqn.3_Missense_Mutation_p.A108V	NM_203454	NP_982279	Q8WW27	ABEC4_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) (APOBEC4), mRNA.	108					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						ATTGTATATGGCTGAGTCAAG	0.408													7	50					0	0	1	0	0	A	183617594	G	A	183617594	3	1	243	1	0	0	0	0	1	0	0	0	796	1203	42	3	784	3	APOBEC4	1	183617594	Missense_Mutation	SNP	G	TCGA-HT-A4DV-01A-11D-A26M-08	68466111	183617594	65633027	3	10646											
ANKRD23	200539	broad.mit.edu	37	chr2	97506180	97506180	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcgtccactgtggcaccTgccaccagcagcttgttcac	6	8	10	17	3	1	0	1	0	0	0	2	0	2	0	4	1	3	4	4	1	0	2			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr2:97506180T>A	uc002sxa.3	-	4	527	c.498A>T	c.(496-498)gcA>gcT	p.A166A	ANKRD23_uc002sxb.3_Non-coding_Transcript|ANKRD23_uc002sxc.3_Silent_p.A124A	NM_144994	NP_659431	Q86SG2	ANR23_HUMAN	Homo sapiens ankyrin repeat domain 23 (ANKRD23), mRNA.	166						nucleus				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						CTGTGGCACCTGCCACCAGCA	0.622													6	20					0	0	1	0	0	A	97506180	T	A	97506180	2	1	243	1	0	0	0	0	0	0	0	1	652	1567	55	5		5	ANKRD23	2	97506180	Silent	SNP	T	TCGA-HT-A4DV-01A-11D-A26M-08		97506180	145693193	4	10647											
CNTNAP5	129684	broad.mit.edu	37	chr2	125204403	125204403	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcctggatgaccagcactgGcactcggtcctcattgagcg	7	9	11	14	2	1	2	1	2	0	0	4	3	3	3	3	3	2	2	3	3	0	1			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr2:125204403G>A	uc010flu.3	+	5	1171	c.807G>A	c.(805-807)tgG>tgA	p.W269*	CNTNAP5_uc002tno.3_Nonsense_Mutation_p.W269*	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	269	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACCAGCACTGGCACTCGGTCC	0.612													3	38					0	0	1	0	0	A	125204403	G	A	125204403	4	1	243	1	0	0	0	0	0	1	0	0	3650	1212	42	3	829	3	CNTNAP5	2	125204403	Nonsense_Mutation	SNP	G	TCGA-HT-A4DV-01A-11D-A26M-08	27698223	125204403	117994970	5	10648											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								5	23					0	0	1	0	0	T	209113112	C	T	209113112	3	4	243	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A4DV-01A-11D-A26M-08	83908709	209113112	34086261	6	10649											
HDLBP	3069	broad.mit.edu	37	chr2	242176036	242176036	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatggacacatacctccagAgcttccttggcagcctcaca	11	8	7	15	0	1	1	1	0	0	1	3	2	3	2	4	2	3	2	4	2	1	3			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr2:242176036A>C	uc002waz.3	-	20	3071	c.2898T>G	c.(2896-2898)gcT>gcG	p.A966A	HDLBP_uc002wba.3_Silent_p.A966A|HDLBP_uc021vzg.1_Silent_p.A933A	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	966	KH 11.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	RNA binding|lipid binding|protein binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		ATACCTCCAGAGCTTCCTTGG	0.612													17	77					0	0	1	0	0	C	242176036	A	C	242176036	2	2	243	1	0	0	0	0	0	0	0	1	7025	291	11	5		5	HDLBP	2	242176036	Silent	SNP	A	TCGA-HT-A4DV-01A-11D-A26M-08	33062924	242176036	1023337	7	10650											
HSPA4L	22824	broad.mit.edu	37	chr4	128753891	128753891	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagcccaaaccaaaagcagaAgttcctgaagacaaaccaaa	21	3	6	11	0	0	3	0	1	0	2	1	3	1	3	4	0	4	2	4	0	8	1			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr4:128753891A>C	uc003ifm.3	+	18	2635	c.2382A>C	c.(2380-2382)gaA>gaC	p.E794D	HSPA4L_uc011cgr.2_Missense_Mutation_p.E761D	NM_014278	NP_055093	O95757	HS74L_HUMAN	Homo sapiens heat shock 70kDa protein 4-like (HSPA4L), mRNA.	794					protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CAAAAGCAGAAGTTCCTGAAG	0.368													7	30					0	0	1	0	0	C	128753891	A	C	128753891	3	2	243	1	0	0	0	0	1	0	0	0	7413	69	3	5	2456	5	HSPA4L	4	128753891	Missense_Mutation	SNP	A	TCGA-HT-A4DV-01A-11D-A26M-08		128753891	62400385	8	10651											
MYOZ3	91977	broad.mit.edu	37	chr5	150050053	150050053	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctttcctggcagtccctacGctggacctgggcaagaagct	7	9	11	14	1	0	1	0	0	0	1	2	2	2	2	4	3	2	4	4	3	3	2			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr5:150050053G>A	uc003lss.2	+	2	656	c.69G>A	c.(67-69)acG>acA	p.T23T	MYOZ3_uc003lsr.2_Silent_p.T23T	NM_001122853	NP_588612	Q8TDC0	MYOZ3_HUMAN	Homo sapiens myozenin 3 (MYOZ3), transcript variant 1, mRNA.	23						sarcomere	protein binding			large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGTCCCTACGCTGGACCTGG	0.602													3	31					0	0	1	0	0	A	150050053	G	A	150050053	2	1	243	1	0	0	0	0	0	0	0	1	10097	1074	38	1		1	MYOZ3	5	150050053	Silent	SNP	G	TCGA-HT-A4DV-01A-11D-A26M-08		150050053	30865207	9	10652											
SYNE1	23345	broad.mit.edu	37	chr6	152730807	152730807	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatttcaggttctgatattCtctcattaagtcaataagtc	11	17	6	7	0	5	2	3	2	2	0	7	2	5	2	0	1	0	1	0	1	4	6			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr6:152730807C>G	uc021zhb.1	-	40	6491	c.6268G>C	c.(6268-6270)Gaa>Caa	p.E2090Q	SYNE1_uc003qot.4_Missense_Mutation_p.E2097Q|SYNE1_uc003qou.4_Missense_Mutation_p.E2090Q|SYNE1_uc010kjb.1_Missense_Mutation_p.E2073Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2090					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		TTCTGATATTCTCTCATTAAG	0.368										HNSCC(10;0.0054)			5	24					0	0	1	0	0	G	152730807	C	G	152730807	3	3	243	1	0	0	0	0	1	0	0	0	15442	922	32	5	20614	5	SYNE1	6	152730807	Missense_Mutation	SNP	C	TCGA-HT-A4DV-01A-11D-A26M-08		152730807	18384260	10	10653											
C7orf34	135927	broad.mit.edu	37	chr7	142636704	142636704	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggggcggccaaaggcagTgggtgggcaggtccatgcct	7	5	19	10	1	0	0	0	0	0	0	1	0	1	0	3	7	1	2	3	7	1	0	rs11977017	by1000genomes	TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr7:142636704T>C	uc003wca.2	+	0	102	c.61T>C	c.(61-63)Tgg>Cgg	p.W21R		NM_178829	NP_849151	Q96L11	CG034_HUMAN	Homo sapiens chromosome 7 open reading frame 34 (C7orf34), mRNA.	0						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					CCAAAGGCAGTGGGTGGGCAG	0.642													3	38					0	0	1	0	0	C	142636704	T	C	142636704	3	2	243	1	0	0	0	0	1	0	0	0	2389	1696	59	3	63	3	C7orf34	7	142636704	Missense_Mutation	SNP	T	TCGA-HT-A4DV-01A-11D-A26M-08		142636704	16501959	11	10654											
SLC4A2	6522	broad.mit.edu	37	chr7	150761619	150761619	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctccctgcagaccaccGccagtcctcccaccacatcc	7	6	4	24	1	0	1	0	0	0	1	5	1	5	1	10	0	1	1	10	0	0	0			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr7:150761619G>A	uc022apz.1	+	3	1264	c.224G>A	c.(223-225)cGc>cAc	p.R75H	SLC4A2_uc003wit.4_Missense_Mutation_p.R75H|SLC4A2_uc011kve.2_Missense_Mutation_p.R66H|SLC4A2_uc003wiu.4_Missense_Mutation_p.R61H	NM_001199692	NP_001186621	P04920	B3A2_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA.	75	Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGACCACCGCCAGTCCTCC	0.682													4	74					0	0	1	0	0	A	150761619	G	A	150761619	3	1	243	1	0	0	0	0	1	0	0	0	14654	1087	38	1	234	1	SLC4A2	7	150761619	Missense_Mutation	SNP	G	TCGA-HT-A4DV-01A-11D-A26M-08	8124915	150761619	8377044	12	10655											
HTRA4	203100	broad.mit.edu	37	chr8	38839229	38839229	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgatggaatctcctttgcaAttccttcagatcgagttagg	9	14	9	9	1	2	2	1	1	1	1	5	4	3	3	2	2	1	2	2	2	3	4			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr8:38839229A>C	uc003xmj.3	+	5	1172	c.1057A>C	c.(1057-1059)Att>Ctt	p.I353L		NM_153692	NP_710159	P83105	HTRA4_HUMAN	Homo sapiens HtrA serine peptidase 4 (HTRA4), mRNA.	353	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CTCCTTTGCAATTCCTTCAGA	0.428													6	39					0	0	1	0	0	C	38839229	A	C	38839229	3	2	243	1	0	0	0	0	1	0	0	0	7456	101	4	5	1079	5	HTRA4	8	38839229	Missense_Mutation	SNP	A	TCGA-HT-A4DV-01A-11D-A26M-08		38839229	107524793	13	10656											
SARDH	1757	broad.mit.edu	37	chr9	136578200	136578200	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaggaagaaccctcggagCtcaggtgcctcccccatcag	9	5	10	17	1	2	1	2	0	0	1	4	3	3	3	5	3	3	1	5	3	2	0			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr9:136578200C>T	uc004cep.4	-	8	1331	c.1197G>A	c.(1195-1197)gaG>gaA	p.E399E	SARDH_uc004ceo.3_Silent_p.E399E|SARDH_uc011mdo.2_Silent_p.E231E|SARDH_uc011mdn.2_Silent_p.E399E	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	399					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		ACCCTCGGAGCTCAGGTGCCT	0.612													3	16					0	0	1	0	0	T	136578200	C	T	136578200	2	4	243	1	0	0	0	0	0	0	0	1	13841	796	28	3		3	SARDH	9	136578200	Silent	SNP	C	TCGA-HT-A4DV-01A-11D-A26M-08		136578200	4635231	14	10657											
RAD52	5893	broad.mit.edu	37	chr12	1023236	1023236	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgagggcttgaccacaccaTcccctgcatcgggagtcaca	10	6	10	15	2	1	1	1	1	0	0	3	3	2	2	4	2	1	2	4	2	0	1			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr12:1023236T>G	uc001qis.1	-	10	1133	c.1019A>C	c.(1018-1020)gAt>gCt	p.D340A	RAD52_uc001qit.1_Non-coding_Transcript|RAD52_uc010sdt.1_Missense_Mutation_p.D263A|RAD52_uc001qiu.1_Missense_Mutation_p.D340A|RAD52_uc001qiv.1_Non-coding_Transcript|RAD52_uc001qiw.1_Non-coding_Transcript	NM_134424	NP_602296	P43351	RAD52_HUMAN	Homo sapiens RAD52 homolog (S. cerevisiae) (RAD52), mRNA.	340					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			GACCACACCATCCCCTGCATC	0.507								Homologous recombination					3	40					0	0	1	0	0	G	1023236	T	G	1023236	3	3	243	1	0	0	0	0	1	0	0	0	12991	1435	50	5	245	5	RAD52	12	1023236	Missense_Mutation	SNP	T	TCGA-HT-A4DV-01A-11D-A26M-08		1023236	132828659	15	10658											
FICD	11153	broad.mit.edu	37	chr12	108912361	108912361	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcatccaggcggactacttGtacaccagagcattgaccat	12	9	8	12	1	1	2	1	1	0	1	2	3	2	3	3	2	3	2	3	2	2	4			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr12:108912361G>C	uc001tmx.1	+	2	632	c.486G>C	c.(484-486)ttG>ttC	p.L162F		NM_007076	NP_009007	Q9BVA6	FICD_HUMAN	Homo sapiens FIC domain containing (FICD), mRNA.	162					negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						CGGACTACTTGTACACCAGAG	0.537													5	46					0	0	1	0	0	C	108912361	G	C	108912361	3	2	243	1	0	0	0	0	1	0	0	0	5887	1368	48	5	492	5	FICD	12	108912361	Missense_Mutation	SNP	G	TCGA-HT-A4DV-01A-11D-A26M-08	107889125	108912361	24939534	16	10659											
FHOD1	29109	broad.mit.edu	37	chr16	67264254	67264254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgggtcttgttgcgctcaCggtatgtggcctgcttctgc	2	13	13	13	3	3	0	1	0	2	0	3	0	3	0	2	3	3	4	2	3	1	4			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr16:67264254C>T	uc002esl.3	-	18	3126	c.3014G>A	c.(3013-3015)cGt>cAt	p.R1005H	FHOD1_uc010ced.3_Missense_Mutation_p.R812H	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN	Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA.	1005	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GTTGCGCTCACGGTATGTGGC	0.592													10	41					0	0	1	0	0	T	67264254	C	T	67264254	3	4	243	1	0	0	0	0	1	0	0	0	5882	536	19	1	496	1	FHOD1	16	67264254	Missense_Mutation	SNP	C	TCGA-HT-A4DV-01A-11D-A26M-08		67264254	23090499	17	10660											
CIC	23152	broad.mit.edu	37	chr19	42791872	42791872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagaagtaccacgacctggCcttccaggtaacgctgttgc	9	8	11	13	2	0	1	0	0	0	1	1	2	1	1	4	2	3	5	4	2	3	4			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr19:42791872C>T	uc002otf.1	+	4	798	c.758C>T	c.(757-759)gCc>gTc	p.A253V		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.A253T(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CACGACCTGGCCTTCCAGGTA	0.622			"Mis, F, S"		oligodendroglioma								6	32					0	0	1	0	0	T	42791872	C	T	42791872	3	4	243	1	0	0	0	0	1	0	0	0	3424	739	26	3	776	3	CIC	19	42791872	Missense_Mutation	SNP	C	TCGA-HT-A4DV-01A-11D-A26M-08		42791872	16337111	18	10661											
U2AF2	11338	broad.mit.edu	37	chr19	56180480	56180480	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgaacggcatgcagctggGggataagaagctgctggtcc	9	7	16	9	1	0	2	0	1	0	1	1	3	1	3	1	4	5	6	1	4	3	1			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr19:56180480G>T	uc002qlu.3	+	9	2032	c.977G>T	c.(976-978)gGg>gTg	p.G326V	U2AF2_uc002qlt.3_Missense_Mutation_p.G326V	NM_007279	NP_009210	P26368	U2AF2_HUMAN	Homo sapiens U2 small nuclear RNA auxiliary factor 2 (U2AF2), transcript variant 1, mRNA.	326	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	RNA binding|enzyme binding|nucleotide binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		ATGCAGCTGGGGGATAAGAAG	0.657													4	32					1.23904e-05	1.27444e-05	1	1	0	T	56180480	G	T	56180480	3	4	243	1	0	0	0	0	1	0	0	0	16820	1232	43	5	1015	5	U2AF2	19	56180480	Missense_Mutation	SNP	G	TCGA-HT-A4DV-01A-11D-A26M-08	13388608	56180480	2948503	19	10662											
PHKA2	5256	broad.mit.edu	37	chrX	18924631	18924631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgagcagttcaggctccGtgccagctccgtggccatca	7	8	11	15	2	2	1	2	1	0	0	4	1	4	1	5	2	3	4	5	2	0	1			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chrX:18924631G>A	uc004cyv.4	-	24	3218	c.2788C>T	c.(2788-2790)Cgg>Tgg	p.R930W	PHKA2_uc010nfe.1_5'Flank|PHKA2_uc010nff.1_5'Flank	NM_000292	NP_000283	P46019	KPB2_HUMAN	Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.	930					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TTCAGGCTCCGTGCCAGCTCC	0.632													23	56					0	0	1	0	0	A	18924631	G	A	18924631	3	1	243	1	0	0	0	0	1	0	0	0	11844	1144	40	1	955	1	PHKA2	23	18924631	Missense_Mutation	SNP	G	TCGA-HT-A4DV-01A-11D-A26M-08		18924631	136345929	20	10663											
SYTL5	94122	broad.mit.edu	37	chrX	37969646	37969646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactatgatcgatttggaCgtaatagcttcctcggggaa	10	11	12	8	3	0	1	0	1	0	0	3	4	1	3	1	4	1	3	1	4	4	5			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chrX:37969646C>T	uc004ddx.3	+	12	1929	c.1573C>T	c.(1573-1575)Cgt>Tgt	p.R525C	SYTL5_uc004ddu.3_Missense_Mutation_p.R503C|SYTL5_uc004ddv.3_Missense_Mutation_p.R503C	NM_001163334	NP_001156806	Q8TDW5	SYTL5_HUMAN	Homo sapiens synaptotagmin-like 5 (SYTL5), transcript variant 3, mRNA.	503					intracellular protein transport	membrane	Rab GTPase binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TCGATTTGGACGTAATAGCTT	0.438													4	73					0	0	1	0	0	T	37969646	C	T	37969646	3	4	243	1	0	0	0	0	1	0	0	0	15483	536	19	1	1623	1	SYTL5	23	37969646	Missense_Mutation	SNP	C	TCGA-HT-A4DV-01A-11D-A26M-08	19045015	37969646	117300914	21	10664											
PLXNB3	5365	broad.mit.edu	37	chrX	153043475	153043475	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtacgggtgtcggacaaTgtggacgccatccttgctgt	7	11	14	9	3	0	0	0	0	0	0	2	3	1	2	2	3	2	2	2	3	2	2			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chrX:153043475T>C	uc010nuk.2	+	32	5674	c.5403T>C	c.(5401-5403)aaT>aaC	p.N1801N	PLXNB3_uc004fii.2_Silent_p.N1778N|PLXNB3_uc011mzd.1_Silent_p.N1417N|SRPK3_uc004fik.3_5'UTR|SRPK3_uc004fim.3_5'Flank|SRPK3_uc004fil.3_5'Flank|SRPK3_uc004fin.3_5'Flank|SRPK3_uc010nul.3_5'Flank	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	1778					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGTCGGACAATGTGGACGCCA	0.602													3	36					0	0	1	0	0	C	153043475	T	C	153043475	2	2	243	1	0	0	0	0	0	0	0	1	12125	1461	51	3		3	PLXNB3	23	153043475	Silent	SNP	T	TCGA-HT-A4DV-01A-11D-A26M-08	115073829	153043475	2227085	22	10665											
DMBX1	127343	broad.mit.edu	37	chr1	46976622	46976622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggtgtggttcaagaacCgccgggccaagttccggaag	9	6	14	12	3	1	1	1	0	0	1	2	2	2	2	5	4	1	2	5	4	4	2			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr1:46976622C>T	uc001cpx.3	+	2	379	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	DMBX1_uc001cpw.3_Missense_Mutation_p.R117C	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	122	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					GTTCAAGAACCGCCGGGCCAA	0.617													3	20					0	0	1	0	0	T	46976622	C	T	46976622	3	4	244	1	0	0	0	0	1	0	0	0	4578	652	23	2	374	2	DMBX1	1	46976622	Missense_Mutation	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08		46976622	202273999	1	10666											
VAV3	10451	broad.mit.edu	37	chr1	108507542	108507544	+	Splice_Site	DEL	GCC	GCC	-																															gggcgggcggcaaggatgcgGccgccgccgccgccgccgcg																								rs71796067		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr1:108507542_108507544delGCC	uc001dvk.1	-	1	1	c.-53_splice	c.e1-1		VAV3_uc010ouw.1_Splice_Site|VAV3_uc001dvl.1_5'Flank|VAV3_uc010oux.1_Splice_Site	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.						B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CAAGGATGCGgccgccgccgccg	0.773													3	5	---	---	---	---						-	108507544	GCC	-	108507542	8	5	244	1	0	1	0	1	0	0	1	0	17130	1218	42	0		0	VAV3	1	108507542	Splice_Site	DEL	GCC	TCGA-HT-A5R5-01A-11D-A289-08	61530920	108507542	140743079	2	10667											
PLEKHO1	51177	broad.mit.edu	37	chr1	150131105	150131105	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accaacctcttgtgctgagaGctttcgggttgacctggaca	8	11	11	11	1	1	2	0	2	1	1	2	4	1	3	3	2	3	3	3	2	1	3			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr1:150131105G>A	uc001ett.3	+	5	895	c.617G>A	c.(616-618)aGc>aAc	p.S206N	PLEKHO1_uc001ets.3_Missense_Mutation_p.S23N|PLEKHO1_uc001etu.3_Missense_Mutation_p.S34N|PLEKHO1_uc021oyc.1_Missense_Mutation_p.S23N	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	Homo sapiens pleckstrin homology domain containing, family O member 1 (PLEKHO1), mRNA.	206	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTGCTGAGAGCTTTCGGGTT	0.617													7	93					0	0	1	0	0	A	150131105	G	A	150131105	3	1	244	1	0	0	0	0	1	0	0	0	12084	971	34	3	639	3	PLEKHO1	1	150131105	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	41623563	150131105	99119516	3	10668											
SCTR	6344	broad.mit.edu	37	chr2	120197767	120197767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgctgttgctgaaggaggCcacggggtgcagtgggaact	7	8	19	7	1	0	1	0	1	0	0	0	3	0	3	1	6	4	4	1	6	2	1			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr2:120197767C>T	uc002tma.3	-	12	1475	c.1249G>A	c.(1249-1251)Gcc>Acc	p.A417T	SCTR_uc002tlz.3_Missense_Mutation_p.A239T	NM_002980	NP_002971	P47872	SCTR_HUMAN	Homo sapiens secretin receptor (SCTR), mRNA.	417					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	CTGAAGGAGGCCACGGGGTGC	0.637													12	26					0	0	1	0	0	T	120197767	C	T	120197767	3	4	244	1	0	0	0	0	1	0	0	0	13943	739	26	3	77	3	SCTR	2	120197767	Missense_Mutation	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08		120197767	123001606	4	10669											
PLEKHM3	389072	broad.mit.edu	37	chr2	208866024	208866024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagaaattaaaggttgatgCttccttttgttccatccagg	11	14	9	7	0	0	2	0	1	0	1	3	3	3	2	3	2	1	3	3	2	4	6			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr2:208866024C>T	uc002vcl.2	-	1	830	c.340G>A	c.(340-342)Gca>Aca	p.A114T	PLEKHM3_uc002vcm.2_Missense_Mutation_p.A114T	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.	114					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAGGTTGATGCTTCCTTTTGT	0.453													16	79					0	0	1	0	0	T	208866024	C	T	208866024	3	4	244	1	0	0	0	0	1	0	0	0	12082	797	28	3	1973	3	PLEKHM3	2	208866024	Missense_Mutation	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08	88668257	208866024	34333349	5	10670											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								14	30					0	0	1	0	0	T	209113112	C	T	209113112	3	4	244	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08	247088	209113112	34086261	6	10671											
LHFPL4	375323	broad.mit.edu	37	chr3	9594261	9594261	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaccaccacgttgatgaTggcgaagcagatggtgaaga	14	6	14	7	2	0	6	0	3	0	3	0	8	0	6	2	2	1	2	2	2	3	1			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr3:9594261T>C	uc003bry.3	-	1	389	c.103A>G	c.(103-105)Atc>Gtc	p.I35V		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 4 (LHFPL4), mRNA.	35						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					ACGTTGATGATGGCGAAGCAG	0.632													5	70					0	0	1	0	0	C	9594261	T	C	9594261	3	2	244	1	0	0	0	0	1	0	0	0	8767	1464	51	3	652	3	LHFPL4	3	9594261	Missense_Mutation	SNP	T	TCGA-HT-A5R5-01A-11D-A289-08		9594261	188428169	7	10672											
MST1	4485	broad.mit.edu	37	chr3	49723304	49723304	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggactcactgcggcttgtgCggcgtctcagcggaccagcg	5	7	16	13	5	2	0	2	0	1	0	3	2	2	2	1	4	4	1	1	4	0	1			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr3:49723304C>T	uc003cxg.3	-	9	1311	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	MST1_uc011bcs.1_Missense_Mutation_p.R452H	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	399	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCGGCTTGTGCGGCGTCTCAG	0.682													5	121					0	0	1	0	0	T	49723304	C	T	49723304	2	4	244	1	0	0	0	0	0	0	0	1	9890	755	27	1		1	MST1	3	49723304	Silent	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08	40129043	49723304	148299126	8	10673											
KIAA1524	57650	broad.mit.edu	37	chr3	108308132	108308132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctctcacctccaagtgccGcaaaagctgagtggcgttcg	8	8	11	14	3	1	1	1	1	1	0	4	1	2	1	4	1	2	3	4	1	3	1			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr3:108308132G>A	uc003dxb.4	-	0	360	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	DZIP3_uc003dxd.3_5'Flank|KIAA1524_uc010hpw.1_5'UTR|DZIP3_uc003dxe.1_5'Flank	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	Homo sapiens KIAA1524 (KIAA1524), mRNA.	31						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCAAGTGCCGCAAAAGCTGA	0.587													3	30					0	0	1	0	0	A	108308132	G	A	108308132	3	1	244	1	0	0	0	0	1	0	0	0	8239	1086	38	1	2710	1	KIAA1524	3	108308132	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	58584828	108308132	89714298	9	10674											
ADPRH	141	broad.mit.edu	37	chr3	119305222	119305222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagccatgagggcggctgtgGggctgccatgcgggccatgt	5	7	18	11	2	0	1	0	1	0	0	0	1	0	1	3	5	3	2	3	5	0	0			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr3:119305222G>A	uc003ecs.3	+	3	687	c.389G>A	c.(388-390)gGg>gAg	p.G130E	ADPRH_uc010hqv.3_Missense_Mutation_p.G130E|ADPRH_uc011bjb.2_Missense_Mutation_p.G23E|ADPRH_uc003ect.3_Missense_Mutation_p.G130E	NM_001125	NP_001116	P54922	ADPRH_HUMAN	Homo sapiens ADP-ribosylarginine hydrolase (ADPRH), mRNA.	130					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		GGCGGCTGTGGGGCTGCCATG	0.612													9	150					0	0	1	0	0	A	119305222	G	A	119305222	3	1	244	1	0	0	0	0	1	0	0	0	331	1232	43	3	395	3	ADPRH	3	119305222	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	10997090	119305222	78717208	10	10675											
TFRC	7037	broad.mit.edu	37	chr3	195803944	195803944	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatatcttaccaagttagaGaatgctgatctagcttgatc	14	13	7	7	0	2	3	0	2	2	1	3	4	2	3	1	0	3	3	1	0	7	5			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr3:195803944G>C	uc003fvz.4	-	1	310	c.27C>G	c.(25-27)ttC>ttG	p.F9L	TFRC_uc003fwa.4_Missense_Mutation_p.F9L|TFRC_uc010hzy.3_5'UTR|TFRC_uc011btr.2_5'UTR	NM_003234	NP_003225	P02786	TFR1_HUMAN	Homo sapiens transferrin receptor (p90, CD71) (TFRC), transcript variant 1, mRNA.	9	Mediates interaction with SH3BP4.				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		CCAAGTTAGAGAATGCTGATC	0.343			T	BCL6	NHL								14	34					0	0	1	0	0	C	195803944	G	C	195803944	3	2	244	1	0	0	0	0	1	0	0	0	15809	933	33	5	2327	5	TFRC	3	195803944	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	76498722	195803944	2218486	11	10676											
DDX60L	91351	broad.mit.edu	37	chr4	169379129	169379129	+	Frame_Shift_Del	DEL	T	T	-																															ttccaagtgttgtatgaggcTtttatatgcactctgaatca																										TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr4:169379129delT	uc021xuh.1	-	4	747	c.637delA	c.(637-639)agcfs	p.S213fs	DDX60L_uc003irq.4_Frame_Shift_Del_p.S213fs|DDX60L_uc003irr.1_Frame_Shift_Del_p.S213fs|DDX60L_uc003irs.1_5'Flank	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	213							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TGTATGAGGCTTTTATATGCA	0.294													2	4	---	---	---	---						-	169379129	T	-	169379129	7	5	244	1	0	1	0	1	0	0	0	0	4379	1609	56	0	4615	0	DDX60L	4	169379129	Frame_Shift_Del	DEL	T	TCGA-HT-A5R5-01A-11D-A289-08		169379129	21775147	12	10677											
TERT	7015	broad.mit.edu	37	chr5	1264587	1264587	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaccaggggaataggccGtgggccggcatctgaacaaa	11	4	14	12	3	1	1	0	1	1	0	1	2	1	2	4	5	1	2	4	5	4	1	rs34528119		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr5:1264587G>A	uc003jcb.1	-	10	2833	c.2775C>T	c.(2773-2775)caC>caT	p.H925H	TERT_uc003jbz.1_Silent_p.H121H|TERT_uc003jcc.1_Intron|TERT_uc003jca.1_Silent_p.H913H|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Silent_p.H77H	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	925	Required for oligomerization.|Reverse transcriptase.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGAATAGGCCGTGGGCCGGCA	0.627									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				20	44					0	0	1	0	0	A	1264587	G	A	1264587	2	1	244	1	0	0	0	0	0	0	0	1	15761	1136	40	1		1	TERT	5	1264587	Silent	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08		1264587	179650673	13	10678											
SKIV2L2	23517	broad.mit.edu	37	chr5	54720585	54720585	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagatattgtgtttgctgcCagcctctacttgtagagtca	9	14	10	8	0	2	2	1	0	1	2	2	3	2	2	2	0	4	3	2	0	3	6			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr5:54720585C>T	uc003jpy.4	+	26	3380	c.3114C>T	c.(3112-3114)gcC>gcT	p.A1038A	SKIV2L2_uc011cqi.2_Silent_p.A937A	NM_015360	NP_056175	P42285	SK2L2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like 2 (S. cerevisiae) (SKIV2L2), mRNA.	1038					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TGTTTGCTGCCAGCCTCTACT	0.378													4	38					0	0	1	0	0	T	54720585	C	T	54720585	2	4	244	1	0	0	0	0	0	0	0	1	14360	581	21	3		3	SKIV2L2	5	54720585	Silent	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08	53455998	54720585	126194675	14	10679											
HARS	3035	broad.mit.edu	37	chr5	140070858	140070858	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgctctccctgaagtttcAccagctcctccagcgccgca	6	8	8	19	4	2	1	1	1	1	0	5	1	4	1	5	0	2	4	5	0	1	1			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr5:140070858A>T	uc003lgv.3	-	0	114	c.32T>A	c.(31-33)gTg>gAg	p.V11E	HARS_uc011czm.2_Missense_Mutation_p.V11E|HARS_uc003lgw.3_Missense_Mutation_p.V11E|HARS_uc011czn.2_Missense_Mutation_p.V11E|HARS_uc011czo.2_Missense_Mutation_p.V11E|HARS_uc011czp.2_Missense_Mutation_p.V11E|HARS_uc011czq.2_Missense_Mutation_p.V11E|HARS2_uc010jfv.1_5'Flank|HARS2_uc003lgx.3_5'Flank|HARS2_uc011czr.2_5'Flank|HARS2_uc011czs.2_5'Flank|HARS2_uc011czt.2_5'Flank	NM_002109	NP_002100	P12081	SYHC_HUMAN	Homo sapiens histidyl-tRNA synthetase (HARS), mRNA.	11	WHEP-TRS.				histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CTGAAGTTTCACCAGCTCCTC	0.652													11	29					0	0	1	0	0	T	140070858	A	T	140070858	3	4	244	1	0	0	0	0	1	0	0	0	6959	159	6	5	1549	5	HARS	5	140070858	Missense_Mutation	SNP	A	TCGA-HT-A5R5-01A-11D-A289-08	85350273	140070858	40844402	15	10680											
STK19	8859	broad.mit.edu	37	chr6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A																															attcagcgacagtggcgggcINSaaacccctcccggggcgggg																										TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr6:31939829_31939830insA	uc003nyv.3	+	0	184_185	c.56_57insA	c.(55-57)gcafs	p.A19fs	DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.3_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.2_Frame_Shift_Ins_p.A19fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.3_Frame_Shift_Ins_p.A19fs|STK19_uc010jtn.1_5'Flank	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	19						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													8	155	---	---	---	---						A	31939830	-	A	31939829	7	5	244	1	0	1	1	0	0	0	0	0	15291	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-HT-A5R5-01A-11D-A289-08		31939829	139175238	16	10681											
ITPR3	3710	broad.mit.edu	37	chr6	33660584	33660584	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattgtgctgaacctcatctTtggggtaatcatcgacacct	9	13	8	11	1	3	1	2	1	1	0	4	2	3	1	2	2	2	2	2	2	2	3			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr6:33660584T>G	uc021ywr.1	+	54	7762	c.7538T>G	c.(7537-7539)tTt>tGt	p.F2513C		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	2513					G-protein coupled receptor protein signaling pathway|activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						AACCTCATCTTTGGGGTAATC	0.517													4	92					0	0	1	0	0	G	33660584	T	G	33660584	3	3	244	1	0	0	0	0	1	0	0	0	7922	1841	64	5	7756	5	ITPR3	6	33660584	Missense_Mutation	SNP	T	TCGA-HT-A5R5-01A-11D-A289-08	1720755	33660584	137454483	17	10682											
PRSS35	167681	broad.mit.edu	37	chr6	84233254	84233254	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggattttatgtggcacttgAgaaaggtaccccggattgtc	9	12	13	7	1	0	1	0	1	0	1	1	4	0	3	2	4	1	2	2	4	3	5			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr6:84233254A>T	uc003pjz.3	+	1	334	c.94A>T	c.(94-96)Aga>Tga	p.R32*	PRSS35_uc010kbm.3_Nonsense_Mutation_p.R32*|PRSS35_uc021zce.1_Nonsense_Mutation_p.R32*	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA.	32					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GTGGCACTTGAGAAAGGTACC	0.448													9	105					0	0	1	0	0	T	84233254	A	T	84233254	4	4	244	1	0	0	0	0	0	1	0	0	12624	296	11	5	96	5	PRSS35	6	84233254	Nonsense_Mutation	SNP	A	TCGA-HT-A5R5-01A-11D-A289-08	50572670	84233254	86881813	18	10683											
FBXO30	84085	broad.mit.edu	37	chr6	146126348	146126348	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctttatcttcctttggtttAgaccaacatgaattagaaag	12	15	7	7	0	1	3	0	1	1	2	2	3	2	3	2	1	1	2	2	1	6	7			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr6:146126348A>G	uc003qla.3	-	1	1393	c.1194T>C	c.(1192-1194)tcT>tcC	p.S398S	LOC100507557_uc003qky.2_Intron	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN	Homo sapiens F-box protein 30 (FBXO30), mRNA.	398	F-box.						ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		CCTTTGGTTTAGACCAACATG	0.388													48	91					0	0	1	0	0	G	146126348	A	G	146126348	2	3	244	1	0	0	0	0	0	0	0	1	5740	407	15	4		4	FBXO30	6	146126348	Silent	SNP	A	TCGA-HT-A5R5-01A-11D-A289-08	61893094	146126348	24988719	19	10684											
FOXK1	221937	broad.mit.edu	37	chr7	4798771	4798771	+	Frame_Shift_Del	DEL	C	C	-																															gtgcctgtctcgggagggctCccccattccacacgaccctg																										TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr7:4798771delC	uc003snc.1	+	5	1344	c.1334delC	c.(1333-1335)tccfs	p.S445fs	FOXK1_uc003sna.1_Frame_Shift_Del_p.S282fs	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	Homo sapiens forkhead box K1 (FOXK1), mRNA.	445				Missing (in Ref. 1; AK122663).	cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.G444C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CGGGAGGGCTCCCCCATTCCA	0.652													7	245	---	---	---	---						-	4798771	C	-	4798771	7	5	244	1	0	1	0	1	0	0	0	0	6014	855	30	0	1356	0	FOXK1	7	4798771	Frame_Shift_Del	DEL	C	TCGA-HT-A5R5-01A-11D-A289-08		4798771	154339892	20	10685											
PLXNA4	91584	broad.mit.edu	37	chr7	131829883	131829889	+	Frame_Shift_Del	DEL	GCTCTTC	GCTCTTC	-																															cctcccttcactcaccaattGctcttccaggtatggcggac																										TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr7:131829883_131829889delGCTCTTC	uc003vra.4	-	28	5443_5449	c.5214_5220delGAAGAGC	c.(5212-5220)tggaagagcfs	p.W1738fs	PLXNA4_uc003vqz.4_Frame_Shift_Del_p.W23fs	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1738						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTCACCAATTGCTCTTCCAGGTATGGC	0.594													10	58	---	---	---	---						-	131829889	GCTCTTC	-	131829883	7	5	244	1	0	1	0	1	0	0	0	0	12122	1310	46	0	480	0	PLXNA4	7	131829883	Frame_Shift_Del	DEL	GCTCTTC	TCGA-HT-A5R5-01A-11D-A289-08	127031112	131829883	27308780	21	10686											
PTK2B	2185	broad.mit.edu	37	chr8	27279873	27279873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaggtcagcgagggcatggCcctgcagctgggctgcctgg	6	6	17	12	1	1	0	1	0	0	0	1	1	1	0	2	5	4	4	2	5	1	0			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr8:27279873C>T	uc003xfn.2	+	9	1332	c.524C>T	c.(523-525)gCc>gTc	p.A175V	PTK2B_uc022ate.1_Missense_Mutation_p.A175V|PTK2B_uc003xfp.2_Missense_Mutation_p.A175V|PTK2B_uc003xfq.2_Missense_Mutation_p.A175V	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	175	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		GAGGGCATGGCCCTGCAGCTG	0.652													3	39					0	0	1	0	0	T	27279873	C	T	27279873	3	4	244	1	0	0	0	0	1	0	0	0	12763	739	26	3	538	3	PTK2B	8	27279873	Missense_Mutation	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08		27279873	119084149	22	10687											
TRHR	7201	broad.mit.edu	37	chr8	110100140	110100140	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atctgtcaccccatcaaagcCcagtttctctgcacattttc	9	13	4	15	0	4	0	2	0	2	0	6	0	4	0	3	0	2	2	3	0	1	3			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr8:110100140C>G	uc003ymz.4	+	0	488	c.399C>G	c.(397-399)gcC>gcG	p.A133A		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	133						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CCATCAAAGCCCAGTTTCTCT	0.413													20	33					0	0	1	0	0	G	110100140	C	G	110100140	2	3	244	1	0	0	0	0	0	0	0	1	16477	610	22	5		5	TRHR	8	110100140	Silent	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08	82820267	110100140	36263882	23	10688											
RORB	6096	broad.mit.edu	37	chr9	77277523	77277523	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aattctacttctgaagtcagGtaagcaagaagattcatggg	14	11	10	6	0	4	3	2	1	2	2	4	3	4	3	0	2	2	2	0	2	6	5			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr9:77277523G>T	uc004aji.3	+	6	974	c.925_splice	c.e6+1	p.G309_splice	RORB_uc004ajh.3_Splice_Site_p.G298_splice	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	309	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						CTGAAGTCAGGTAAGCAAGAA	0.458													12	74					7.93312e-07	8.24422e-07	1	1	0	T	77277523	G	T	77277523	5	4	244	1	0	0	0	0	0	0	1	0	13529	1275	44	5	915	5	RORB	9	77277523	Splice_Site	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08		77277523	63935908	24	10689											
BTAF1	9044	broad.mit.edu	37	chr10	93749186	93749186	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactatgcagctcagtgcatAgctaaactccttcagcagtg	12	10	8	11	0	2	0	2	0	0	0	3	0	3	0	1	0	7	5	1	0	5	4			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr10:93749186A>G	uc001khr.3	+	19	2801	c.2703A>G	c.(2701-2703)atA>atG	p.I901M	BTAF1_uc001khs.1_Missense_Mutation_p.I571M|BTAF1_uc001kht.1_Missense_Mutation_p.I339M	NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	901					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CTCAGTGCATAGCTAAACTCC	0.388													30	46					0	0	1	0	0	G	93749186	A	G	93749186	3	3	244	1	0	0	0	0	1	0	0	0	1536	410	15	4	2781	4	BTAF1	10	93749186	Missense_Mutation	SNP	A	TCGA-HT-A5R5-01A-11D-A289-08		93749186	41785561	25	10690											
DCHS1	8642	broad.mit.edu	37	chr11	6654108	6654108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atccagcagcacacgcacccGagctacagcgaaagctgggg	12	3	12	14	3	0	0	0	0	0	0	1	2	1	0	2	2	6	5	2	2	2	1	rs139750490		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr11:6654108G>A	uc001mem.1	-	5	3036	c.2635C>T	c.(2635-2637)Cgg>Tgg	p.R879W		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	879	Cadherin 8.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACACGCACCCGAGCTACAGCG	0.597													7	38					0	0	1	0	0	A	6654108	G	A	6654108	3	1	244	1	0	0	0	0	1	0	0	0	4287	1057	37	2	7325	2	DCHS1	11	6654108	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08		6654108	128352408	26	10691											
IGSF22	283284	broad.mit.edu	37	chr11	18739488	18739488	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccactcatacccagcactgtGagctctgcactcatccgctt	8	10	6	17	1	3	1	2	1	1	0	4	1	4	1	3	0	4	4	3	0	1	2			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr11:18739488G>A	uc009yht.2	-	8	1153	c.963C>T	c.(961-963)ctC>ctT	p.L321L	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	321	Ig-like 2.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CCAGCACTGTGAGCTCTGCAC	0.542													15	69					0	0	1	0	0	A	18739488	G	A	18739488	2	1	244	1	0	0	0	0	0	0	0	1	7600	1277	45	3		3	IGSF22	11	18739488	Silent	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	12085380	18739488	116267028	27	10692											
TECTA	7007	broad.mit.edu	37	chr11	120996422	120996422	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctctgtgggagtgtggcActgtcgtggaccccactgct	4	10	14	13	1	1	0	0	0	1	0	2	2	1	2	3	3	1	2	3	3	0	0			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr11:120996422A>G	uc010rzo.2	+	6	1615	c.1615A>G	c.(1615-1617)Act>Gct	p.T539A		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	539	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGAGTGTGGCACTGTCGTGGA	0.592													7	176					0	0	1	0	0	G	120996422	A	G	120996422	3	3	244	1	0	0	0	0	1	0	0	0	15744	159	6	3	1641	3	TECTA	11	120996422	Missense_Mutation	SNP	A	TCGA-HT-A5R5-01A-11D-A289-08	102256934	120996422	14010094	28	10693											
HSPA8	3312	broad.mit.edu	37	chr11	122931899	122931899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgatcaaccgttcagtgtccGtaaaggcgacatagcttgga	11	9	11	10	4	2	0	2	0	0	0	3	3	3	1	2	2	2	3	2	2	4	4			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr11:122931899G>A	uc001pyo.3	-	1	269	c.134C>T	c.(133-135)aCg>aTg	p.T45M	HSPA8_uc009zbc.3_5'Flank|HSPA8_uc001pyp.3_Missense_Mutation_p.T45M|HSPA8_uc010rzu.2_Missense_Mutation_p.T45M|HSPA8_uc009zbd.2_Missense_Mutation_p.T45M|HSPA8_uc010rzv.1_Missense_Mutation_p.T45M	NM_006597	NP_006588	P11142	HSP7C_HUMAN	Homo sapiens heat shock 70kDa protein 8 (HSPA8), transcript variant 1, mRNA.	45					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TTCAGTGTCCGTAAAGGCGAC	0.463													3	43					0	0	1	0	0	A	122931899	G	A	122931899	3	1	244	1	0	0	0	0	1	0	0	0	7416	1145	40	1	1838	1	HSPA8	11	122931899	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	1935477	122931899	12074617	29	10694											
STRAP	11171	broad.mit.edu	37	chr12	16050900	16050900	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaatttcttgttgcaggCggtgaagattttaaacttta	13	15	9	4	1	1	3	0	1	1	2	1	3	1	3	0	2	2	2	0	2	6	7			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr12:16050900C>T	uc010shw.2	+	7	1116	c.762C>T	c.(760-762)ggC>ggT	p.G254G	STRAP_uc001rdc.4_Silent_p.G241G|STRAP_uc001rdd.4_Silent_p.G147G	NM_007178	NP_009109	Q9Y3F4	STRAP_HUMAN	Homo sapiens serine/threonine kinase receptor associated protein (STRAP), mRNA.	241					RNA splicing|mRNA processing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				TTGTTGCAGGCGGTGAAGATT	0.343													19	34					0	0	1	0	0	T	16050900	C	T	16050900	2	4	244	1	0	0	0	0	0	0	0	1	15325	755	27	1		1	STRAP	12	16050900	Silent	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08		16050900	117800995	30	10695											
OBFC2B	79035	broad.mit.edu	37	chr12	56622875	56622875	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatccccctcatactcccTcccacccacccagcacccga	9	5	2	25	1	1	0	1	0	0	0	4	1	4	0	7	0	2	1	7	0	1	1			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr12:56622875T>C	uc001skk.3	+	5	648	c.589T>C	c.(589-591)Tcc>Ccc	p.S197P	OBFC2B_uc001ski.3_Missense_Mutation_p.S172P	NM_024068	NP_076973	Q9BQ15	SOSB1_HUMAN	Homo sapiens oligonucleotide/oligosaccharide-binding fold containing 2B (OBFC2B), mRNA.	172	Pro-rich.				G2/M transition checkpoint|double-strand break repair via homologous recombination|response to ionizing radiation	SOSS complex	protein binding|single-stranded DNA binding			endometrium(1)|lung(1)|ovary(1)|skin(2)	5						TCATACTCCCTCCCACCCACC	0.597								Other identified genes with known or suspected DNA repair function					5	15					0	0	1	0	0	C	56622875	T	C	56622875	3	2	244	1	0	0	0	0	1	0	0	0	10809	1551	54	4	536	4	OBFC2B	12	56622875	Missense_Mutation	SNP	T	TCGA-HT-A5R5-01A-11D-A289-08	40571975	56622875	77229020	31	10696											
NUAK1	9891	broad.mit.edu	37	chr12	106477695	106477695	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccagcttcaagtcccggtGgaccacaccgttctgaaatg	9	10	9	13	2	2	1	1	1	1	0	4	2	4	2	4	2	1	2	4	2	2	3			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr12:106477695G>T	uc001tlj.1	-	3	1906	c.526C>A	c.(526-528)Cac>Aac	p.H176N		NM_014840	NP_055655	O60285	NUAK1_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 1 (NUAK1), mRNA.	176	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						AAGTCCCGGTGGACCACACCG	0.498													4	63					0.000602214	0.000602214	1	1	0	T	106477695	G	T	106477695	3	4	244	1	0	0	0	0	1	0	0	0	10712	1348	47	5	1475	5	NUAK1	12	106477695	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	49854820	106477695	27374200	32	10697											
PRR14	78994	broad.mit.edu	37	chr16	30666113	30666113	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaaaccccacagcccccAcccccgtcccccccaatgaa	13	2	3	23	1	0	1	0	1	0	0	1	1	1	1	9	0	3	0	9	0	5	0			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr16:30666113A>C	uc002dyy.3	+	7	1080	c.822A>C	c.(820-822)ccA>ccC	p.P274P	PRR14_uc002dyz.3_Silent_p.P119P|PRR14_uc002dza.3_Silent_p.P274P|PRR14_uc002dzb.1_Silent_p.P88P	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	Homo sapiens proline rich 14 (PRR14), mRNA.	274	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CACAGCCCCCACCCCCGTCCC	0.652													4	21					0	0	1	0	0	C	30666113	A	C	30666113	2	2	244	1	0	0	0	0	0	0	0	1	12586	146	6	5		5	PRR14	16	30666113	Silent	SNP	A	TCGA-HT-A5R5-01A-11D-A289-08		30666113	59688640	33	10698											
CTCF	10664	broad.mit.edu	37	chr16	67663410	67663410	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaaaaagaaagatgcgctCtaagaaagaagattcctctg	19	7	9	6	1	2	6	0	0	2	6	3	6	3	6	1	0	1	1	1	0	7	2			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr16:67663410C>G	uc002etl.3	+	9	2255	c.1811C>G	c.(1810-1812)tCt>tGt	p.S604C	CTCF_uc010cek.3_Missense_Mutation_p.S276C|CTCF_uc002etm.1_Missense_Mutation_p.S93C	NM_006565	NP_001177951	P49711	CTCF_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA.	604					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	p.R603R(2)|p.R603C(1)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AAGATGCGCTCTAAGAAAGAA	0.448													6	55					0	0	1	0	0	G	67663410	C	G	67663410	3	3	244	1	0	0	0	0	1	0	0	0	4000	913	32	5	1841	5	CTCF	16	67663410	Missense_Mutation	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08	36997297	67663410	22691343	34	10699											
TSNAXIP1	55815	broad.mit.edu	37	chr16	67860104	67860104	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagatgctggctgagggcaaGaacagcgaccagctggtgga	11	5	16	9	1	0	3	0	1	0	2	0	5	0	4	1	4	4	4	1	4	2	0			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr16:67860104G>C	uc010vka.2	+	9	1270	c.1194G>C	c.(1192-1194)aaG>aaC	p.K398N	TSNAXIP1_uc010cep.2_3'UTR|TSNAXIP1_uc010vjz.1_Missense_Mutation_p.K221N|TSNAXIP1_uc002euf.4_Missense_Mutation_p.K77N|TSNAXIP1_uc010vkb.2_Missense_Mutation_p.K329N|TSNAXIP1_uc002eug.4_Missense_Mutation_p.K52N|TSNAXIP1_uc002euh.4_Missense_Mutation_p.K52N|TSNAXIP1_uc002eui.4_Missense_Mutation_p.K52N|TSNAXIP1_uc002euj.3_Missense_Mutation_p.K344N|TSNAXIP1_uc002euk.3_Missense_Mutation_p.K77N	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	Homo sapiens translin-associated factor X interacting protein 1 (TSNAXIP1), mRNA.	344					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm		p.V398V(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		CTGAGGGCAAGAACAGCGACC	0.637													3	56					0	0	1	0	0	C	67860104	G	C	67860104	3	2	244	1	0	0	0	0	1	0	0	0	16629	933	33	5	1062	5	TSNAXIP1	16	67860104	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	196694	67860104	22494649	35	10700											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			24	7					0	0	1	0	0	A	7577121	G	A	7577121	3	1	244	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08		7577121	73618089	36	10701											
KRI1	65095	broad.mit.edu	37	chr19	10670353	10670353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctcatccttacggcgcacgGaggacgcgatgctgcgtggg	6	7	16	12	6	1	0	1	0	0	0	2	3	2	2	1	4	3	3	1	4	1	1			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr19:10670353G>A	uc002moy.1	-	10	986	c.977C>T	c.(976-978)tCc>tTc	p.S326F	KRI1_uc002mow.1_5'UTR|KRI1_uc002mox.1_Missense_Mutation_p.S322F	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	Homo sapiens KRI1 homolog (S. cerevisiae) (KRI1), mRNA.	326	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			ACGGCGCACGGAGGACGCGAT	0.622													13	45					0	0	1	0	0	A	10670353	G	A	10670353	3	1	244	1	0	0	0	0	1	0	0	0	8444	1174	41	3	1188	3	KRI1	19	10670353	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08		10670353	48458630	37	10702											
NUCB1	4924	broad.mit.edu	37	chr19	49422370	49422370	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgcatgcgggagcatgtGatgaagaatgtgaggtgggg	9	8	19	5	2	0	4	0	3	0	1	0	5	0	5	0	4	3	2	0	4	2	0			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr19:49422370G>T	uc002plb.4	+	8	1234	c.900G>T	c.(898-900)gtG>gtT	p.V300V	NUCB1_uc002pla.3_Silent_p.V300V|Mir_324_uc021uxc.1_5'Flank|NUCB1_uc002pld.3_5'UTR	NM_006184	NP_006175	Q02818	NUCB1_HUMAN	Homo sapiens nucleobindin 1 (NUCB1), mRNA.	300	Binds to GNAI2 and GNAI3 (By similarity).|EF-hand 2.			HV -> QL (in Ref. 1; AAA36383).		ER-Golgi intermediate compartment|Golgi apparatus|extracellular space|membrane|microtubule cytoskeleton	DNA binding|calcium ion binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		GGGAGCATGTGATGAAGAATG	0.622													4	39					0.000602214	0.000602214	1	1	0	T	49422370	G	T	49422370	2	4	244	1	0	0	0	0	0	0	0	1	10718	1277	45	5		5	NUCB1	19	49422370	Silent	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	38752017	49422370	9706613	38	10703											
NLRP8	126205	broad.mit.edu	37	chr19	56459540	56459540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttcatctcttgatagagcGtttccctggacgacgcgctt	6	13	11	11	4	2	2	1	1	1	1	4	4	3	3	1	2	1	3	1	2	1	5	rs149738419		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr19:56459540G>A	uc002qmh.3	+	0	343	c.272G>A	c.(271-273)cGt>cAt	p.R91H	NLRP8_uc010etg.3_Missense_Mutation_p.R91H	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	91	DAPIN.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTGATAGAGCGTTTCCCTGGA	0.512													13	27					0	0	1	0	0	A	56459540	G	A	56459540	3	1	244	1	0	0	0	0	1	0	0	0	10483	1145	40	1	274	1	NLRP8	19	56459540	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	7037170	56459540	2669443	39	10704											
SNRPB	6628	broad.mit.edu	37	chr20	2444499	2444499	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccagcagccctgccgatcCctgggcccccggcagctcca	5	5	11	20	2	0	0	0	0	0	0	2	1	2	0	7	2	5	3	7	2	0	0			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr20:2444499C>T	uc002wfz.1	-	3	477	c.314G>A	c.(313-315)gGg>gAg	p.G105E	SNRPB_uc002wga.1_Missense_Mutation_p.G105E|SNRPB_uc010zpv.2_Missense_Mutation_p.G26E|SNRPB_uc002wgb.3_Missense_Mutation_p.G105E|SNORD119_uc010gam.1_5'Flank	NM_198216	NP_937859	P14678	RSMB_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptides B and B1 (SNRPB), transcript variant 1, mRNA.	105					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	U12-type spliceosomal complex|U7 snRNP|catalytic step 2 spliceosome|cytosol|nucleoplasm	RNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CCTGCCGATCCCTGGGCCCCC	0.587													5	135					0	0	1	0	0	T	2444499	C	T	2444499	3	4	244	1	0	0	0	0	1	0	0	0	14861	623	22	3	439	3	SNRPB	20	2444499	Missense_Mutation	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08		2444499	60581021	40	10705											
PIWIL3	440822	broad.mit.edu	37	chr22	25119191	25119191	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaatctagtgtttattcGtttcttcaccacaatgaaag	15	14	5	7	1	3	1	1	1	2	0	4	1	3	1	1	0	0	2	1	0	7	6	rs147640812		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr22:25119191G>A	uc003abd.1	-	18	2707	c.2290C>T	c.(2290-2292)Cga>Tga	p.R764*	PIWIL3_uc011ajx.1_Nonsense_Mutation_p.R646*|PIWIL3_uc010gut.1_Nonsense_Mutation_p.R755*|PIWIL3_uc011ajy.1_Nonsense_Mutation_p.R646*	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.	764	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GTGTTTATTCGTTTCTTCACC	0.343													3	41					0	0	1	0	0	A	25119191	G	A	25119191	4	1	244	1	0	0	0	0	0	1	0	0	11959	1153	40	1	370	1	PIWIL3	22	25119191	Nonsense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08		25119191	26185375	41	10706											
DMD	1756	broad.mit.edu	37	chrX	31747794	31747794	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttgattgctggtcttgttTttcaaattttgggcagcggt	5	19	11	6	1	3	1	1	1	2	0	3	1	3	1	0	3	2	3	0	3	1	7			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chrX:31747794T>C	uc004dda.1	-	51	7858	c.7614A>G	c.(7612-7614)aaA>aaG	p.K2538K	DMD_uc004dcr.1_Silent_p.K78K|DMD_uc004dcs.1_Silent_p.K78K|DMD_uc004dct.1_Silent_p.K78K|DMD_uc004dcu.1_Silent_p.K78K|DMD_uc004dcv.1_Silent_p.K78K|DMD_uc004dcw.2_Silent_p.K1194K|DMD_uc004dcx.2_Silent_p.K1197K|DMD_uc004dcz.2_Silent_p.K2415K|DMD_uc004dcy.1_Silent_p.K2534K|DMD_uc004ddb.1_Silent_p.K2530K|DMD_uc004ddd.1_Silent_p.K78K	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	2538					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGGTCTTGTTTTTCAAATTTT	0.413													48	84					0	0	1	0	0	C	31747794	T	C	31747794	2	2	244	1	0	0	0	0	0	0	0	1	4580	1838	64	3		3	DMD	23	31747794	Silent	SNP	T	TCGA-HT-A5R5-01A-11D-A289-08		31747794	123522766	42	10707											
ATRX	546	broad.mit.edu	37	chrX	76937081	76937081	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggcttaattttctgttCatcgctgcttccctcaccta	7	15	5	14	1	3	0	2	0	1	0	5	0	4	0	2	1	1	4	2	1	2	6			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chrX:76937081C>A	uc004ecp.4	-	8	3899	c.3667G>T	c.(3667-3669)Gaa>Taa	p.E1223*	ATRX_uc004ecq.4_Nonsense_Mutation_p.E1185*|ATRX_uc004eco.4_Nonsense_Mutation_p.E1008*|ATRX_uc004ecr.2_Nonsense_Mutation_p.E1155*|ATRX_uc010nlx.1_Nonsense_Mutation_p.E1194*|ATRX_uc010nly.1_Nonsense_Mutation_p.E1168*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1223					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.E1223Q(3)|p.E1223E(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ATTTTCTGTTCATCGCTGCTT	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						17	54					2.48551e-13	2.63464e-13	1	1	0	A	76937081	C	A	76937081	4	1	244	1	0	0	0	0	0	1	0	0	1208	835	29	5	3919	5	ATRX	23	76937081	Nonsense_Mutation	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08	45189287	76937081	78333479	43	10708											
GAB3	139716	broad.mit.edu	37	chrX	153906497	153906497	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccgtccactcctgttttgtGctctggagagcctgtgtctt	3	16	10	12	1	2	1	0	0	2	1	5	2	5	1	4	1	2	2	4	1	0	3			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chrX:153906497G>C	uc004fmk.1	-	9	1770	c.1722C>G	c.(1720-1722)agC>agG	p.S574R	GAB3_uc004fmj.1_Missense_Mutation_p.S573R|GAB3_uc010nve.1_Missense_Mutation_p.S535R|GAB3_uc004fml.1_Missense_Mutation_p.S193R	NM_001081573	NP_001075042	Q8WWW8	GAB3_HUMAN	Homo sapiens GRB2-associated binding protein 3 (GAB3), transcript variant 1, mRNA.	573										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCTGTTTTGTGCTCTGGAGAG	0.463													6	101					0	0	1	0	0	C	153906497	G	C	153906497	3	2	244	1	0	0	0	0	1	0	0	0	6150	1310	46	5	45	5	GAB3	23	153906497	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	76969416	153906497	1364063	44	10709											
PPM1J	333926	broad.mit.edu	37	chr1	113257684	113257684	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtggtcatcggcgcgtcgCagccccccggggctcagctg	3	6	16	16	6	2	0	2	0	0	0	4	0	2	0	3	4	2	3	3	4	0	0			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr1:113257684C>T	uc001ect.1	-	0	267	c.240G>A	c.(238-240)ctG>ctA	p.L80L	PPM1J_uc009wgl.1_5'Flank|PPM1J_uc001ecs.1_5'UTR	NM_005167	NP_005158	Q5JR12	PPM1J_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1J (PPM1J), mRNA.	80										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGGCGCGTCGCAGCCCCCCGG	0.741													3	15					0	0	1	0	0	T	113257684	C	T	113257684	2	4	245	1	0	0	0	0	0	0	0	1	12342	697	25	3		3	PPM1J	1	113257684	Silent	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08		113257684	135992937	1	10710											
F13B	2165	broad.mit.edu	37	chr1	197031010	197031010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtggttttgtaccctgaagCgcaaccataacgcatgttct	10	12	9	10	2	1	1	0	1	1	0	1	1	1	1	2	1	4	5	2	1	4	5			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr1:197031010C>T	uc001gtt.1	-	2	399	c.355G>A	c.(355-357)Gct>Act	p.A119T		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	119	Sushi 2.				blood coagulation	extracellular region		p.C118C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TACCCTGAAGCGCAACCATAA	0.403													4	30					0	0	1	0	0	T	197031010	C	T	197031010	3	4	245	1	0	0	0	0	1	0	0	0	5341	768	27	1	1670	1	F13B	1	197031010	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08	83773326	197031010	52219611	2	10711											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								10	44					0	0	1	0	0	T	209113112	C	T	209113112	3	4	245	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08		209113112	34086261	3	10712											
VIL1	7429	broad.mit.edu	37	chr2	219299258	219299258	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctgcagggaggcaccTcccgaactaacaacttggag	11	6	10	14	1	1	0	1	0	0	0	2	3	2	2	3	3	4	2	3	3	3	2			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr2:219299258T>C	uc002vib.3	+	12	1532	c.1510T>C	c.(1510-1512)Tcc>Ccc	p.S504P	VIL1_uc010zke.2_Missense_Mutation_p.S193P|VIL1_uc002via.3_Missense_Mutation_p.S504P	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	504	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	p.T503N(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGAGGCACCTCCCGAACTAA	0.607													11	85					0	0	1	0	0	C	219299258	T	C	219299258	3	2	245	1	0	0	0	0	1	0	0	0	17161	1551	54	4	1560	4	VIL1	2	219299258	Missense_Mutation	SNP	T	TCGA-HT-A5R7-01A-11D-A289-08	10186146	219299258	23900115	4	10713											
NUP210	23225	broad.mit.edu	37	chr3	13363258	13363258	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagggaggcactgaccaccaGagctgtcttcttcatgctca	9	9	11	12	0	4	2	2	1	2	1	4	4	4	3	2	2	2	3	2	2	0	2			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr3:13363258G>C	uc003bxv.1	-	35	5076	c.4993C>G	c.(4993-4995)Ctg>Gtg	p.L1665V		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1665					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CTGACCACCAGAGCTGTCTTC	0.582													72	175					0	0	1	0	0	C	13363258	G	C	13363258	3	2	245	1	0	0	0	0	1	0	0	0	10760	933	33	5	690	5	NUP210	3	13363258	Missense_Mutation	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08		13363258	184659172	5	10714											
FBLN2	2199	broad.mit.edu	37	chr3	13655525	13655525	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcctccgcgtgcgggcCgagggccagtcgtgtgagtc	3	7	18	13	5	0	1	0	1	0	0	3	2	1	1	4	3	1	0	4	3	0	0			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr3:13655525C>T	uc011avc.2	+	4	1972	c.1590C>T	c.(1588-1590)gcC>gcT	p.A530A	FBLN2_uc011auz.2_Silent_p.A556A|FBLN2_uc011avb.2_Silent_p.A530A|FBLN2_uc011ava.2_Silent_p.A530A|BC152380_uc003byc.1_5'Flank	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	530	Anaphylatoxin-like 3.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.V529V(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GCGTGCGGGCCGAGGGCCAGT	0.597													13	36					0	0	1	0	0	T	13655525	C	T	13655525	2	4	245	1	0	0	0	0	0	0	0	1	5699	639	23	2		2	FBLN2	3	13655525	Silent	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08	292267	13655525	184366905	6	10715											
CCBP2	1238	broad.mit.edu	37	chr3	42906981	42906981	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaggctttcctggctgcCgtgcttggatggcacctggc	4	11	14	12	1	0	1	0	1	0	0	1	2	1	2	3	5	2	4	3	5	1	2			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr3:42906981C>T	uc003cme.3	+	2	1165	c.987C>T	c.(985-987)gcC>gcT	p.A329A	CCBP2_uc003cmf.3_Silent_p.A329A|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Silent_p.A329A	NM_001296	NP_001287	O00590	CCBP2_HUMAN	Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.	329					chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.241)		TCCTGGCTGCCGTGCTTGGAT	0.557													8	100					0	0	1	0	0	T	42906981	C	T	42906981	2	4	245	1	0	0	0	0	0	0	0	1	2734	639	23	2		2	CCBP2	3	42906981	Silent	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08	29251456	42906981	155115449	7	10716											
TOMM70A	9868	broad.mit.edu	37	chr3	100096610	100096610	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggtttggctgcattggcaTtgccaataagcaggtagaag	10	11	13	7	0	0	1	0	0	0	1	0	1	0	1	1	4	3	6	1	4	4	5			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr3:100096610T>C	uc003dtw.3	-	5	1480	c.1031A>G	c.(1030-1032)aAt>aGt	p.N344S		NM_014820	NP_055635	O94826	TOM70_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) (TOMM70A), nuclear gene encoding mitochondrial protein, mRNA.	344					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						TGCATTGGCATTGCCAATAAG	0.348													26	52					0	0	1	0	0	C	100096610	T	C	100096610	3	2	245	1	0	0	0	0	1	0	0	0	16359	1493	52	3	823	3	TOMM70A	3	100096610	Missense_Mutation	SNP	T	TCGA-HT-A5R7-01A-11D-A289-08	57189629	100096610	97925820	8	10717											
SEC31A	22872	broad.mit.edu	37	chr4	83742201	83742201	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaacttactgtctgttcccTaagtttatcatacagaaact	14	14	4	9	0	2	1	1	0	1	1	3	1	3	1	1	0	4	2	1	0	7	6			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr4:83742201T>G	uc003hnh.3	-	25	3652	c.3472A>C	c.(3472-3474)Agg>Cgg	p.R1158R	SEC31A_uc003hnd.3_Silent_p.R327R|SEC31A_uc003hne.3_Silent_p.R907R|SEC31A_uc011ccl.2_Silent_p.R1104R|SEC31A_uc003hnl.3_Silent_p.R1005R|SEC31A_uc003hng.3_Silent_p.R1143R|SEC31A_uc011ccm.2_Silent_p.R1138R|SEC31A_uc003hni.3_Silent_p.R1044R|SEC31A_uc003hnk.3_Silent_p.R1119R|SEC31A_uc003hnf.3_Silent_p.R1158R|SEC31A_uc011ccn.2_Silent_p.R1143R|SEC31A_uc003hnm.3_Silent_p.R1158R	NM_014933	NP_055748	O94979	SC31A_HUMAN	Homo sapiens SEC31 homolog A (S. cerevisiae) (SEC31A), transcript variant 1, mRNA.	1158					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GTCTGTTCCCTAAGTTTATCA	0.343													43	111					0	0	1	0	0	G	83742201	T	G	83742201	2	3	245	1	0	0	0	0	0	0	0	1	13998	1521	53	5		5	SEC31A	4	83742201	Silent	SNP	T	TCGA-HT-A5R7-01A-11D-A289-08		83742201	107412075	9	10718											
MED23	9439	broad.mit.edu	37	chr6	131913582	131913582	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccatgctgtaatgttctcTcttggcactaaaggctgact	9	14	8	10	0	2	1	0	1	2	0	4	1	3	1	1	2	1	5	1	2	3	4			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr6:131913582T>C	uc003qcs.1	-	24	3591	c.3417A>G	c.(3415-3417)agA>agG	p.R1139R	MED23_uc003qcq.3_Silent_p.R1145R|MED23_uc003qcr.1_5'UTR	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	1139					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TAATGTTCTCTCTTGGCACTA	0.353													18	76					0	0	1	0	0	C	131913582	T	C	131913582	2	2	245	1	0	0	0	0	0	0	0	1	9441	1548	54	4		4	MED23	6	131913582	Silent	SNP	T	TCGA-HT-A5R7-01A-11D-A289-08		131913582	39201485	10	10719											
AKAP9	10142	broad.mit.edu	37	chr7	91732039	91732039	+	Frame_Shift_Del	DEL	G	G	-																															ttggccctgcttgcccggatGggggggcagccagctttcac																								rs143306820		TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr7:91732039delG	uc003ulg.3	+	45	11454	c.11229delG	c.(11227-11229)atgfs	p.M3743fs	AKAP9_uc003ulf.3_Frame_Shift_Del_p.M3735fs|AKAP9_uc003uli.3_Frame_Shift_Del_p.M3366fs|AKAP9_uc003ulj.3_Frame_Shift_Del_p.M1513fs|AKAP9_uc003ull.3_Frame_Shift_Del_p.M639fs	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	3747					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTGCCCGGATGGGGGGGCAGC	0.537			T	BRAF	papillary thyroid								8	1930	---	---	---	---						-	91732039	G	-	91732039	7	5	245	1	0	1	0	1	0	0	0	0	459	1348	47	0	11411	0	AKAP9	7	91732039	Frame_Shift_Del	DEL	G	TCGA-HT-A5R7-01A-11D-A289-08		91732039	67406624	11	10720											
MUC17	140453	broad.mit.edu	37	chr7	100684757	100684757	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaccacgccagtggtcAgttctgaggctagcaccctt	8	9	10	14	1	3	1	2	1	1	0	3	1	3	1	3	2	2	4	3	2	1	3			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr7:100684757A>T	uc003uxp.1	+	2	10113	c.10060A>T	c.(10060-10062)Agt>Tgt	p.S3354C	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3354	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCCAGTGGTCAGTTCTGAGGC	0.483													30	456					0	0	1	0	0	T	100684757	A	T	100684757	3	4	245	1	0	0	0	0	1	0	0	0	9974	188	7	5	10070	5	MUC17	7	100684757	Missense_Mutation	SNP	A	TCGA-HT-A5R7-01A-11D-A289-08	8952718	100684757	58453906	12	10721											
ABP1	26	broad.mit.edu	37	chr7	150553856	150553856	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcgggaagcccgtgccGtcatcttctttggtgaccag	5	11	13	12	3	3	1	1	1	2	0	3	2	3	2	3	2	3	0	3	2	1	2			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr7:150553856G>A	uc003why.1	+	2	4516	c.298G>A	c.(298-300)Gtc>Atc	p.V100I	ABP1_uc003whz.1_Missense_Mutation_p.V100I|ABP1_uc003wia.1_Missense_Mutation_p.V100I	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	100					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	AGCCCGTGCCGTCATCTTCTT	0.582													48	80					0	0	1	0	0	A	150553856	G	A	150553856	3	1	245	1	0	0	0	0	1	0	0	0	98	1145	40	1	300	1	ABP1	7	150553856	Missense_Mutation	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08	49869099	150553856	8584807	13	10722											
GKAP1	80318	broad.mit.edu	37	chr9	86383805	86383821	+	Frame_Shift_Del	DEL	AATAAGAATTTTATGAA	AATAAGAATTTTATGAA	-																															tgttctcttcgtttttctctAataagaattttatgaacatc																										TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr9:86383805_86383821delAATAAGAATTTTATGAA	uc004amy.3	-	7	1146_1162	c.650_666delTTCATAAAATTCTTATT	c.(649-666)gttcataaaattcttattfs	p.V217fs	GKAP1_uc004amz.3_Intron|GKAP1_uc011lsu.1_Non-coding_Transcript	NM_025211	NP_079487	Q5VSY0	GKAP1_HUMAN	Homo sapiens G kinase anchoring protein 1 (GKAP1), transcript variant 1, mRNA.	217					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						GTTTTTCTCTAATAAGAATTTTATGAACATCATCTTC	0.318													8	35	---	---	---	---						-	86383821	AATAAGAATTTTATGAA	-	86383805	7	5	245	1	0	1	0	1	0	0	0	0	6423	358	13	0	458	0	GKAP1	9	86383805	Frame_Shift_Del	DEL	AATAAGAATTTTATGAA	TCGA-HT-A5R7-01A-11D-A289-08		86383805	54829626	14	10723											
MYEOV	26579	broad.mit.edu	37	chr11	69063311	69063311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagacgtggacgtgtccCgggccaggagggtcacagat	10	5	16	10	3	1	3	1	0	0	3	2	5	2	5	2	4	0	0	2	4	1	0			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr11:69063311C>T	uc001oov.3	+	2	844	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	MYEOV_uc001oox.3_Intron|MYEOV_uc009ysl.3_Missense_Mutation_p.R132W|MYEOV_uc001oow.3_Missense_Mutation_p.R74W	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	Homo sapiens myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas) (MYEOV), mRNA.	132										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GGACGTGTCCCGGGCCAGGAG	0.617													19	168					0	0	1	0	0	T	69063311	C	T	69063311	3	4	245	1	0	0	0	0	1	0	0	0	10025	643	23	2	400	2	MYEOV	11	69063311	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08		69063311	65943205	15	10724											
ANO2	57101	broad.mit.edu	37	chr12	5672710	5672710	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaatcatccagtccacgaGgacgctcaggaacatcacga	13	6	10	12	3	3	0	3	0	0	0	5	5	5	3	2	3	1	1	2	3	2	0			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr12:5672710G>C	uc001qnm.2	-	25	2824	c.2752C>G	c.(2752-2754)Ctc>Gtc	p.L918V		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	923						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	p.V918I(2)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CAGTCCACGAGGACGCTCAGG	0.552													9	121					0	0	1	0	0	C	5672710	G	C	5672710	3	2	245	1	0	0	0	0	1	0	0	0	697	1000	35	5	248	5	ANO2	12	5672710	Missense_Mutation	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08		5672710	128179185	16	10725											
C15orf55	256646	broad.mit.edu	37	chr15	34646897	34646897	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtctcctgagctacatCaatgagctgtgttctcagaa	10	11	9	11	0	3	3	2	2	2	1	5	3	3	3	2	1	3	3	2	1	3	2			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr15:34646897C>A	uc010ucc.2	+	5	1708	c.1326C>A	c.(1324-1326)atC>atA	p.I442I	C15orf55_uc010ucd.2_Silent_p.I432I|C15orf55_uc001zif.3_Silent_p.I414I	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	414						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		TGAGCTACATCAATGAGCTGT	0.527			T	"BRD3, BRD4"	lethal midline carcinoma								10	158					7.03913e-09	7.39108e-09	1	1	0	A	34646897	C	A	34646897	2	1	245	1	0	0	0	0	0	0	0	1	1803	816	29	5		5	C15orf55	15	34646897	Silent	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08		34646897	67884495	17	10726											
GRIN2A	2903	broad.mit.edu	37	chr16	10274071	10274071	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagagctaccacgttcacGtccaggggcagccccgccgc	8	4	12	17	4	1	1	1	0	0	1	2	1	2	1	5	2	4	4	5	2	1	2			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr16:10274071G>A	uc010uym.2	-	2	508	c.198C>T	c.(196-198)gaC>gaT	p.D66D	GRIN2A_uc002czo.4_Silent_p.D66D|GRIN2A_uc002czr.4_Silent_p.D66D|GRIN2A_uc010buk.3_Silent_p.D66D	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	66					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCACGTTCACGTCCAGGGGCA	0.642													10	154					0	0	1	0	0	A	10274071	G	A	10274071	2	1	245	1	0	0	0	0	0	0	0	1	6779	1136	40	1		1	GRIN2A	16	10274071	Silent	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08		10274071	80080682	18	10727											
NOL3	8996	broad.mit.edu	37	chr16	67208077	67208077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccatgcagccccgacaatggGcaacgcgcaggagcggccgt	9	3	14	15	5	0	0	0	0	0	0	0	2	0	1	4	3	4	3	4	3	2	0			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr16:67208077G>A	uc010vjd.2	+	1	198	c.5G>A	c.(4-6)gGc>gAc	p.G2D	NOL3_uc010vjc.2_Missense_Mutation_p.G2D|NOL3_uc002erp.3_Missense_Mutation_p.G2D	NM_001185057	NP_001171986	O60936	NOL3_HUMAN	Homo sapiens nucleolar protein 3 (apoptosis repressor with CARD domain) (NOL3), transcript variant 3, mRNA.	2					RNA splicing|anti-apoptosis|apoptosis|mRNA processing	cytosol|nucleolus	RNA binding|identical protein binding			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CCGACAATGGGCAACGCGCAG	0.672													11	29					0	0	1	0	0	A	67208077	G	A	67208077	3	1	245	1	0	0	0	0	1	0	0	0	10523	1203	42	3	7	3	NOL3	16	67208077	Missense_Mutation	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08	56934006	67208077	23146676	19	10728											
FOXN1	8456	broad.mit.edu	37	chr17	26861989	26861989	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcctggcccctcctggacCcccgcagccattgttcccac	5	7	9	20	1	0	0	0	0	0	0	2	1	2	1	8	3	1	2	8	3	0	2			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr17:26861989C>A	uc010crm.3	+	7	1598	c.1400C>A	c.(1399-1401)cCc>cAc	p.P467H	FOXN1_uc002hbj.3_Missense_Mutation_p.P467H	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	467					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CCTCCTGGACCCCCGCAGCCA	0.677													8	69					0.000157383	0.000157383	1	1	0	A	26861989	C	A	26861989	3	1	245	1	0	0	0	0	1	0	0	0	6019	623	22	5	1426	5	FOXN1	17	26861989	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08		26861989	54333221	20	10729											
KRTAP4-9	100132386	broad.mit.edu	37	chr17	39261778	39261778	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccgccccagctgttgtgtAtccagctgctgcaggcccca	5	9	11	16	1	0	0	0	0	0	0	1	0	1	0	6	1	5	6	6	1	1	2	rs143952367	by1000genomes	TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr17:39261778A>G	uc010wfp.2	+	0	138	c.138A>G	c.(136-138)gtA>gtG	p.V46V		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.	46	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						GCTGTTGTGTATCCAGCTGCT	0.652													9	41					0	0	1	0	0	G	39261778	A	G	39261778	2	3	245	1	0	0	0	0	0	0	0	1	8557	436	16	3		3	KRTAP4-9	17	39261778	Silent	SNP	A	TCGA-HT-A5R7-01A-11D-A289-08	12399789	39261778	41933432	21	10730											
DEDD2	162989	broad.mit.edu	37	chr19	42721095	42721095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacggtgaagcgacagcatcCcgtagtagtccaggcactca	11	7	11	12	3	1	1	1	1	0	0	3	2	3	1	2	2	3	4	2	2	4	3			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr19:42721095C>T	uc002osu.1	-	1	133	c.65G>A	c.(64-66)gGg>gAg	p.G22E	DEDD2_uc002osv.1_Intron|DEDD2_uc002osw.1_Missense_Mutation_p.G22E	NM_133328	NP_579874	Q8WXF8	DEDD2_HUMAN	Homo sapiens death effector domain containing 2 (DEDD2), mRNA.	22					RNA processing|activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				CGACAGCATCCCGTAGTAGTC	0.662													3	15					0	0	1	0	0	T	42721095	C	T	42721095	3	4	245	1	0	0	0	0	1	0	0	0	4385	623	22	3	931	3	DEDD2	19	42721095	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08		42721095	16407888	22	10731											
SIGLEC9	27180	broad.mit.edu	37	chr19	51628473	51628473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccacaaacaacccagctcGggcagtgtgggaggagactc	11	4	14	12	1	0	1	0	0	0	1	2	3	0	2	2	4	3	2	2	4	2	0	rs151265101		TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr19:51628473G>A	uc010yct.2	+	0	337	c.242G>A	c.(241-243)cGg>cAg	p.R81Q	SIGLEC9_uc002pvu.3_Missense_Mutation_p.R81Q	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	81	Ig-like V-type.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AACCCAGCTCGGGCAGTGTGG	0.572													26	67					0	0	1	0	0	A	51628473	G	A	51628473	3	1	245	1	0	0	0	0	1	0	0	0	14315	1116	39	2	244	2	SIGLEC9	19	51628473	Missense_Mutation	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08	8907378	51628473	7500510	23	10732											
TMPRSS15	5651	broad.mit.edu	37	chr21	19647644	19647644	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcttcttgcaatatgtttGcagtagtacctgctcaaaat	11	14	7	9	0	2	0	1	0	1	0	2	0	2	0	1	0	5	7	1	0	6	6			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr21:19647644G>T	uc002ykw.3	-	23	2805	c.2774C>A	c.(2773-2775)gCa>gAa	p.A925E		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	925	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CAATATGTTTGCAGTAGTACC	0.398													6	59					0.000157383	0.000157383	1	1	0	T	19647644	G	T	19647644	3	4	245	1	0	0	0	0	1	0	0	0	16243	1319	46	5	293	5	TMPRSS15	21	19647644	Missense_Mutation	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08		19647644	28482251	24	10733											
XG	7499	broad.mit.edu	37	chrX	2729413	2729413	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aatcgtgtctcccatcgtatCcgtggtggtggtgacactgc	6	12	12	11	3	1	1	0	1	1	0	5	1	2	1	2	3	1	1	2	3	2	1			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chrX:2729413C>G	uc004cqp.3	+	9	714	c.491C>G	c.(490-492)tCc>tGc	p.S164C	XG_uc011mhg.2_Missense_Mutation_p.S149C	NM_001141919	NP_001135391	P55808	XG_HUMAN	Homo sapiens Xg blood group (XG), transcript variant 2, mRNA.	149						integral to membrane|plasma membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CCCATCGTATCCGTGGTGGTG	0.448													6	18					0	0	1	0	0	G	2729413	C	G	2729413	3	3	245	1	0	0	0	0	1	0	0	0	17424	855	30	5	532	5	XG	23	2729413	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08		2729413	152541147	25	10734											
FAM47B	170062	broad.mit.edu	37	chrX	34961355	34961355	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccttggccatgtaccccaAtctgggaaaagatatgcctc	10	10	8	13	0	1	1	0	0	1	1	3	2	2	2	5	2	2	1	5	2	5	3			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chrX:34961355A>G	uc004ddi.2	+	0	443	c.407A>G	c.(406-408)aAt>aGt	p.N136S		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	136										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						ATGTACCCCAATCTGGGAAAA	0.567													8	77					0	0	1	0	0	G	34961355	A	G	34961355	3	3	245	1	0	0	0	0	1	0	0	0	5570	101	4	3	409	3	FAM47B	23	34961355	Missense_Mutation	SNP	A	TCGA-HT-A5R7-01A-11D-A289-08	32231942	34961355	120309205	26	10735											
ATRX	546	broad.mit.edu	37	chrX	76920179	76920180	+	Frame_Shift_Ins	INS	-	-	C																															tgttttccagttctttttttINScccttcttctggctcatcat																										TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chrX:76920179_76920180insC	uc004ecp.4	-	10	4129_4130	c.3897_3898insG	c.(3895-3900)gggaaafs	p.G1299fs	ATRX_uc004ecq.4_Frame_Shift_Ins_p.G1261fs|ATRX_uc004eco.4_Frame_Shift_Ins_p.G1084fs|ATRX_uc004ecr.2_Frame_Shift_Ins_p.G1231fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1299					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.E1298*(1)|p.K1300R(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GTTCTTTTTTTCCCTTCTTCTG	0.371			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						31	72	---	---	---	---						C	76920180	-	C	76920179	7	5	245	1	0	1	1	0	0	0	0	0	1208	1792	62	0	3680	0	ATRX	23	76920179	Frame_Shift_Ins	INS	-	TCGA-HT-A5R7-01A-11D-A289-08	41958824	76920179	78350381	27	10736											
GPC4	2239	broad.mit.edu	37	chrX	132548972	132548972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagggtgcagagaagcgCgggcaagccgaaccgtgcca	10	3	16	12	4	0	1	0	0	0	1	0	3	0	1	4	2	6	2	4	2	3	0			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chrX:132548972C>T	uc004exc.1	-	0	234	c.22G>A	c.(22-24)Gcg>Acg	p.A8T	GPC4_uc011mvg.1_5'Flank	NM_001448	NP_001439	O75487	GPC4_HUMAN	Homo sapiens glypican 4 (GPC4), mRNA.	8					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					CAGAGAAGCGCGGGCAAGCCG	0.687													5	56					0	0	1	0	0	T	132548972	C	T	132548972	3	4	245	1	0	0	0	0	1	0	0	0	6600	768	27	1	1684	1	GPC4	23	132548972	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08	55628793	132548972	22721588	28	10737											
PTPRF	5792	broad.mit.edu	37	chr1	44019524	44019524	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttcggatccagccattgcgGgtgcagcgagatgaagccat	9	8	13	11	3	0	2	0	1	0	1	2	4	1	3	3	2	5	1	3	2	1	2			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr1:44019524G>A	uc001cjr.3	+	4	631	c.291G>A	c.(289-291)cgG>cgA	p.R97R	PTPRF_uc001cjq.4_Silent_p.R97R|PTPRF_uc001cjs.3_Silent_p.R97R|PTPRF_uc001cjt.4_Silent_p.R97R	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	97	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGCCATTGCGGGTGCAGCGAG	0.542													3	39					0	0	1	0	0	A	44019524	G	A	44019524	2	1	246	1	0	0	0	0	0	0	0	1	12801	1219	43	3		3	PTPRF	1	44019524	Silent	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08		44019524	205231097	1	10738											
OR6K2	81448	broad.mit.edu	37	chr1	158669721	158669721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgaagtgagagacacacGtggaaaatgctgtgcggcgg	13	6	15	7	3	0	3	0	2	0	1	0	5	0	4	0	3	2	1	0	3	4	0			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr1:158669721G>A	uc001fsu.1	-	0	722	c.722C>T	c.(721-723)aCg>aTg	p.T241M		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AGAGACACACGTGGAAAATGC	0.463													40	46					0	0	1	0	0	A	158669721	G	A	158669721	3	1	246	1	0	0	0	0	1	0	0	0	11202	1145	40	1	256	1	OR6K2	1	158669721	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08	114650197	158669721	90580900	2	10739											
NOS1AP	9722	broad.mit.edu	37	chr1	162313698	162313698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagctgagcctgcagcacaCgcagcagaatgcagatggcc	12	4	12	13	1	0	3	0	1	0	2	0	3	0	3	2	1	6	6	2	1	2	0			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr1:162313698C>T	uc001gbv.2	+	5	914	c.527C>T	c.(526-528)aCg>aTg	p.T176M	NOS1AP_uc010pkr.1_Missense_Mutation_p.T171M|NOS1AP_uc001gbw.2_Missense_Mutation_p.T171M|NOS1AP_uc010pks.1_Non-coding_Transcript	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	176	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		PDZ domain binding|nitric-oxide synthase binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CTGCAGCACACGCAGCAGAAT	0.582													49	73					0	0	1	0	0	T	162313698	C	T	162313698	3	4	246	1	0	0	0	0	1	0	0	0	10542	536	19	1	549	1	NOS1AP	1	162313698	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	3643977	162313698	86936923	3	10740											
C1orf9	51430	broad.mit.edu	37	chr1	172558108	172558108	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgcagtgaactgaccacaAtttgttgtatttctagtttt	9	19	7	6	0	1	2	0	2	1	0	1	2	1	2	1	0	2	4	1	0	4	8			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr1:172558108A>G	uc001giq.4	+	17	2183	c.1867A>G	c.(1867-1869)Att>Gtt	p.I623V	C1orf9_uc010pmm.1_Missense_Mutation_p.I623V|C1orf9_uc009wwd.3_Missense_Mutation_p.I579V|C1orf9_uc010pmn.2_Intron|C1orf9_uc010pmo.2_Non-coding_Transcript	NM_014283	NP_055098	Q9UBS9	OSPT_HUMAN	Homo sapiens chromosome 1 open reading frame 9 (C1orf9), transcript variant 1, mRNA.	623					multicellular organismal development|ossification	integral to membrane|rough endoplasmic reticulum membrane				breast(1)|endometrium(5)|large_intestine(10)|lung(14)|ovary(2)|skin(2)|urinary_tract(1)	35		Breast(1374;0.212)		Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544)		ACTGACCACAATTTGTTGTAT	0.413													18	24					0	0	1	0	0	G	172558108	A	G	172558108	3	3	246	1	0	0	0	0	1	0	0	0	2067	101	4	3	1937	3	C1orf9	1	172558108	Missense_Mutation	SNP	A	TCGA-HT-A5R9-01A-11D-A289-08	10244410	172558108	76692513	4	10741											
KDM5B	10765	broad.mit.edu	37	chr1	202705465	202705465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagatgtacggggatagatCggcctcgtgtaacaagttct	10	11	12	8	3	2	2	1	0	1	2	4	3	2	3	1	3	2	3	1	3	4	4			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr1:202705465C>T	uc009xag.3	-	21	3364	c.3248G>A	c.(3247-3249)cGa>cAa	p.R1083Q	KDM5B_uc001gyf.3_Missense_Mutation_p.R1047Q|KDM5B_uc001gyg.1_Missense_Mutation_p.R889Q	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	1047					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GGGGATAGATCGGCCTCGTGT	0.428													10	63					0	0	1	0	0	T	202705465	C	T	202705465	3	4	246	1	0	0	0	0	1	0	0	0	8134	884	31	2	1522	2	KDM5B	1	202705465	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	30147357	202705465	46545156	5	10742											
MAPKAPK2	9261	broad.mit.edu	37	chr1	206904037	206904037	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctttgatttgcagctccAgaagtgctgggtccagagaa	10	10	12	9	0	0	3	0	1	0	2	2	5	2	3	3	1	3	3	3	1	2	2			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr1:206904037A>C	uc001hem.2	+	5	906	c.696A>C	c.(694-696)ccA>ccC	p.P232P	MAPKAPK2_uc001hel.2_Silent_p.P232P	NM_032960	NP_116584	P49137	MAPK2_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 2 (MAPKAPK2), transcript variant 2, mRNA.	232	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|nerve growth factor receptor signaling pathway|prostanoid metabolic process|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			TTGCAGCTCCAGAAGTGCTGG	0.552													27	55					0	0	1	0	0	C	206904037	A	C	206904037	2	2	246	1	0	0	0	0	0	0	0	1	9289	175	7	5		5	MAPKAPK2	1	206904037	Silent	SNP	A	TCGA-HT-A5R9-01A-11D-A289-08	4198572	206904037	42346584	6	10743											
HTRA2	27429	broad.mit.edu	37	chr2	74757185	74757186	+	Frame_Shift_Ins	INS	-	-	G																															ctggagccttcgggcatggcINSgggctttggggggcattcgc																										TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr2:74757185_74757186insG	uc002smi.1	+	0	654_655	c.52_53insG	c.(52-54)cggfs	p.R18fs	AUP1_uc002sme.3_5'Flank|AUP1_uc002smf.3_5'Flank|AUP1_uc002smg.3_5'Flank|AUP1_uc002smh.3_5'Flank|AUP1_uc010yrx.2_5'Flank|AUP1_uc021vjm.1_5'Flank|AUP1_uc010yry.2_5'Flank|HTRA2_uc002smj.1_Frame_Shift_Ins_p.R18fs|HTRA2_uc002smk.1_Frame_Shift_Ins_p.R18fs|HTRA2_uc002sml.1_Frame_Shift_Ins_p.R18fs|HTRA2_uc010ffl.3_5'Flank	NM_013247	NP_037379	O43464	HTRA2_HUMAN	Homo sapiens HtrA serine peptidase 2 (HTRA2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	18					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TCGGGCATGGCGGGCTTTGGGG	0.718													17	141	---	---	---	---						G	74757186	-	G	74757185	7	5	246	1	0	1	1	0	0	0	0	0	7454	759	27	0	54	0	HTRA2	2	74757185	Frame_Shift_Ins	INS	-	TCGA-HT-A5R9-01A-11D-A289-08		74757185	168442188	7	10744											
REV1	51455	broad.mit.edu	37	chr2	100055074	100055076	+	In_Frame_Del	DEL	ACA	ACA	-																															agtatctacctgtgtcagttAcaacaagtgcagacctgcct																										TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr2:100055074_100055076delACA	uc002tad.3	-	5	1412_1414	c.1200_1202delTGT	c.(1198-1203)gttgta>gta	p.400_401VV>V	REV1_uc002tac.3_In_Frame_Del_p.400_401VV>V|REV1_uc002tae.1_In_Frame_Del_p.379_380VV>V	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.	400					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	DNA-directed DNA polymerase activity|damaged DNA binding|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTGTCAGTTACAACAAGTGCAG	0.335								Direct reversal of damage					26	48	---	---	---	---						-	100055076	ACA	-	100055074	7	5	246	1	0	1	0	1	0	0	0	0	13239	391	14	0	2625	0	REV1	2	100055074	In_Frame_Del	DEL	ACA	TCGA-HT-A5R9-01A-11D-A289-08	25297889	100055074	143144299	8	10745											
SMPD4	55627	broad.mit.edu	37	chr2	130930223	130930225	+	In_Frame_Del	DEL	AAG	AAG	-																															gagtgatgaggctcaaggcaAagaagaatatgtaatactcg																										TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr2:130930223_130930225delAAG	uc002tqq.2	-	6	1746_1748	c.597_599delCTT	c.(595-600)ttcttt>ttt	p.199_200FF>F	SMPD4_uc002tqp.2_5'UTR|SMPD4_uc010yzy.2_Intron|SMPD4_uc010yzz.2_Intron|SMPD4_uc002tqs.2_In_Frame_Del_p.67_68FF>F|SMPD4_uc002tqr.2_In_Frame_Del_p.199_200FF>F|SMPD4_uc010zaa.2_In_Frame_Del_p.86_87FF>F|SMPD4_uc010zab.2_In_Frame_Del_p.126_127FF>F|SMPD4_uc002tqt.2_In_Frame_Del_p.77_78FF>F|SMPD4_uc010zac.2_Intron|SMPD4_uc010zad.2_Intron	NM_017951	NP_060421	Q9NXE4	NSMA3_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) (SMPD4), transcript variant 2, mRNA.	160					sphingomyelin catabolic process	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase D activity|sphingomyelin phosphodiesterase activity	p.F199L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	gctcaaggcaaagaagaatatgt	0.571													15	127	---	---	---	---						-	130930225	AAG	-	130930223	7	5	246	1	0	1	0	1	0	0	0	0	14807	14	1	0	2057	0	SMPD4	2	130930223	In_Frame_Del	DEL	AAG	TCGA-HT-A5R9-01A-11D-A289-08	30875149	130930223	112269150	9	10746											
DPP4	1803	broad.mit.edu	37	chr2	162851494	162851494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcctggaaatccactccaaCatcgaccagggctttggaga	11	8	10	12	1	0	1	0	0	0	1	3	4	2	2	4	3	2	1	4	3	2	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr2:162851494C>T	uc002ubz.3	-	24	2737	c.2176G>A	c.(2176-2178)Gtt>Att	p.V726I	DPP4_uc010fpb.3_Missense_Mutation_p.V402I	NM_001935	NP_001926	P27487	DPP4_HUMAN	Homo sapiens dipeptidyl-peptidase 4 (DPP4), mRNA.	726					T cell activation|T cell costimulation|cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	TCCACTCCAACATCGACCAGG	0.453													4	69					0	0	1	0	0	T	162851494	C	T	162851494	3	4	246	1	0	0	0	0	1	0	0	0	4729	478	17	3	132	3	DPP4	2	162851494	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	31921271	162851494	80347879	10	10747											
GIGYF2	26058	broad.mit.edu	37	chr2	233714984	233714984	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttcacaggactctgtgtggGggatgaaccacagtacactc	10	10	11	10	0	2	1	1	1	1	0	3	3	2	3	1	3	2	1	1	3	2	2			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr2:233714984G>A	uc002vtj.4	+	29	4027	c.3760G>A	c.(3760-3762)Ggg>Agg	p.G1254R	GIGYF2_uc002vti.4_Missense_Mutation_p.G1233R|GIGYF2_uc002vtk.4_Missense_Mutation_p.G1233R|GIGYF2_uc002vth.4_Missense_Mutation_p.G1227R|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc002vtq.4_Missense_Mutation_p.G566R	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	1233					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CTCTGTGTGGGGGATGAACCA	0.433													6	100					0	0	1	0	0	A	233714984	G	A	233714984	3	1	246	1	0	0	0	0	1	0	0	0	6378	1232	43	3	3869	3	GIGYF2	2	233714984	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08	70863490	233714984	9484389	11	10748											
GPR128	84873	broad.mit.edu	37	chr3	100373800	100373800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaacttgcagacaagtgatGgtgacatcaataatattgac	16	10	9	6	0	1	5	1	3	0	2	1	5	1	5	0	1	2	1	0	1	5	4			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr3:100373800G>A	uc003duc.3	+	11	1769	c.1501G>A	c.(1501-1503)Ggt>Agt	p.G501S	GPR128_uc011bhc.2_Missense_Mutation_p.G202S|GPR128_uc003dud.3_Missense_Mutation_p.G24S	NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	501					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GACAAGTGATGGTGACATCAA	0.408													58	77					0	0	1	0	0	A	100373800	G	A	100373800	3	1	246	1	0	0	0	0	1	0	0	0	6641	1348	47	3	1547	3	GPR128	3	100373800	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08		100373800	97648630	12	10749											
GPR156	165829	broad.mit.edu	37	chr3	119885960	119885960	+	Frame_Shift_Del	DEL	C	C	-																															agcttttcccaggaagccagCcccccagtaggctcagggtc																										TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr3:119885960delC	uc011bjf.2	-	8	2744	c.2364delG	c.(2362-2364)gggfs	p.G788fs	GPR156_uc011bjg.2_Frame_Shift_Del_p.G784fs	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA.	788						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		AGGAAGCCAGCCCCCCAGTAG	0.552													9	466	---	---	---	---						-	119885960	C	-	119885960	7	5	246	1	0	1	0	1	0	0	0	0	6661	726	26	0	84	0	GPR156	3	119885960	Frame_Shift_Del	DEL	C	TCGA-HT-A5R9-01A-11D-A289-08	19512160	119885960	78136470	13	10750											
ACPP	55	broad.mit.edu	37	chr3	132086622	132086622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tactactgtttatccacattCgccgtggactctgctggcag	7	13	9	12	2	1	0	0	0	1	0	3	1	2	1	2	2	3	3	2	2	3	5			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr3:132086622C>T	uc003eop.4	+	10	1303	c.1213C>T	c.(1213-1215)Cgc>Tgc	p.R405C		NM_001134194	NP_001127666	P15309	PPAP_HUMAN	Homo sapiens acid phosphatase, prostate (ACPP), transcript variant 2, mRNA.	0						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						TATCCACATTCGCCGTGGACT	0.463													84	209					0	0	1	0	0	T	132086622	C	T	132086622	3	4	246	1	0	0	0	0	1	0	0	0	167	884	31	2	1278	2	ACPP	3	132086622	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	12200662	132086622	65935808	14	10751											
RBPJ	3516	broad.mit.edu	37	chr4	26426014	26426017	+	Frame_Shift_Del	DEL	CAGA	CAGA	-																															tgtttaatcgactacgatccCagacagttagtaccagatac																										TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr4:26426014_26426017delCAGA	uc003grx.2	+	6	822_825	c.586_589delCAGA	c.(586-591)cagacafs	p.Q196fs	RBPJ_uc003gry.2_Frame_Shift_Del_p.Q181fs|RBPJ_uc003grz.2_Frame_Shift_Del_p.Q196fs|RBPJ_uc011bxt.2_Frame_Shift_Del_p.Q196fs|RBPJ_uc003gsa.2_Frame_Shift_Del_p.Q182fs|RBPJ_uc003gsb.2_Frame_Shift_Del_p.Q183fs	NM_005349	NP_005340	Q06330	SUH_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region (RBPJ), transcript variant 1, mRNA.	196					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				ACTACGATCCCAGACAGTTAGTAC	0.422													41	31	---	---	---	---						-	26426017	CAGA	-	26426014	7	5	246	1	0	1	0	1	0	0	0	0	13161	595	21	0	671	0	RBPJ	4	26426014	Frame_Shift_Del	DEL	CAGA	TCGA-HT-A5R9-01A-11D-A289-08		26426014	164728262	15	10752											
DDX4	54514	broad.mit.edu	37	chr5	55075828	55075828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taattcagaagcttcagggcCatacagaagaggtggaagag	15	7	13	6	0	2	4	2	0	0	4	2	5	2	5	1	3	2	1	1	3	5	4	rs137993034		TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr5:55075828C>T	uc003jqg.4	+	7	530	c.431C>T	c.(430-432)cCa>cTa	p.P144L	DDX4_uc010ivz.3_Missense_Mutation_p.P124L|DDX4_uc003jqh.4_Intron|DDX4_uc003jqj.3_Intron	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.	144	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GCTTCAGGGCCATACAGAAGA	0.413													10	35					0	0	1	0	0	T	55075828	C	T	55075828	3	4	246	1	0	0	0	0	1	0	0	0	4360	594	21	3	498	3	DDX4	5	55075828	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08		55075828	125839432	16	10753											
HBEGF	1839	broad.mit.edu	37	chr5	139715486	139715489	+	Frame_Shift_Del	DEL	CAGA	CAGA	-																															agaagccccacgatgaccagCagacagacagatgacagcac																										TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr5:139715486_139715489delCAGA	uc003lfi.3	-	3	797_800	c.522_525delTCTG	c.(520-525)tgtctgfs	p.C174fs	HBEGF_uc010jfj.3_Non-coding_Transcript	NM_001945	NP_001936	Q99075	HBEGF_HUMAN	Homo sapiens heparin-binding EGF-like growth factor (HBEGF), mRNA.	174					epidermal growth factor receptor signaling pathway|muscle organ development|positive regulation of protein kinase B signaling cascade|positive regulation of wound healing	cell surface|extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|eukaryotic cell surface binding|growth factor activity|heparin binding|receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)	7			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGATGACCAGCAGACAGACAGATG	0.554													11	109	---	---	---	---						-	139715489	CAGA	-	139715486	7	5	246	1	0	1	0	1	0	0	0	0	6981	697	25	0	109	0	HBEGF	5	139715486	Frame_Shift_Del	DEL	CAGA	TCGA-HT-A5R9-01A-11D-A289-08	84639658	139715486	41199774	17	10754											
PCDHGC5	56097	broad.mit.edu	37	chr5	140763850	140763850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcctactcagtctacatcGctgagaacaaccccagaggg	12	7	8	14	1	2	2	1	1	1	2	4	3	3	2	3	1	4	1	3	1	4	2			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr5:140763850G>A	uc003lka.2	+	0	1384	c.1384G>A	c.(1384-1386)Gct>Act	p.A462T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003ljz.1_Missense_Mutation_p.A462T	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.	464	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCTACATCGCTGAGAACAA	0.522													4	60					0	0	1	0	0	A	140763850	G	A	140763850	3	1	246	1	0	0	0	0	1	0	0	0	11571	1087	38	1		1	PCDHGC5	5	140763850	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08	1048364	140763850	40151410	18	10755											
PTPRK	5796	broad.mit.edu	37	chr6	128294828	128294828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggcagtggataatcgtccGgccttccccttcctcgcatt	6	11	9	15	3	0	0	0	0	0	0	5	1	3	1	5	3	0	2	5	3	1	4			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr6:128294828G>A	uc003qbk.3	-	27	4478	c.4111C>T	c.(4111-4113)Cgg>Tgg	p.R1371W	PTPRK_uc010kfc.3_Missense_Mutation_p.R1378W|PTPRK_uc003qbj.3_Missense_Mutation_p.R1372W|PTPRK_uc011ebu.2_Missense_Mutation_p.R1394W	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	1371	Tyrosine-protein phosphatase 2.				cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATAATCGTCCGGCCTTCCCCT	0.483													5	107					0	0	1	0	0	A	128294828	G	A	128294828	3	1	246	1	0	0	0	0	1	0	0	0	12805	1115	39	2	220	2	PTPRK	6	128294828	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08		128294828	42820239	19	10756											
NPY	4852	broad.mit.edu	37	chr7	24324984	24324984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgggcgaggacgcaccagCggaggacatggccagatact	10	3	15	13	4	0	1	0	0	0	1	0	5	0	4	3	5	2	1	3	5	1	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr7:24324984C>T	uc003sww.2	+	1	213	c.125C>T	c.(124-126)gCg>gTg	p.A42V		NM_000905	NP_000896	P01303	NPY_HUMAN	Homo sapiens neuropeptide Y (NPY), mRNA.	42					G-protein signaling, coupled to cyclic nucleotide second messenger|adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	G-protein coupled receptor activity|calcium channel regulator activity|neuropeptide hormone activity	p.A42V(2)		breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						GACGCACCAGCGGAGGACATG	0.682													7	93					0	0	1	0	0	T	24324984	C	T	24324984	3	4	246	1	0	0	0	0	1	0	0	0	10607	768	27	1	127	1	NPY	7	24324984	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08		24324984	134813679	20	10757											
AUTS2	26053	broad.mit.edu	37	chr7	70229866	70229866	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagcttcacacccacccTccagccccccgcacactcac	9	4	4	24	1	2	0	2	0	0	0	3	0	3	0	6	0	2	3	6	0	0	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr7:70229866T>C	uc003tvw.4	+	7	2078	c.1343T>C	c.(1342-1344)cTc>cCc	p.L448P	AUTS2_uc003tvx.4_Missense_Mutation_p.L448P|AUTS2_uc011keg.2_5'Flank	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	448										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		acacccaccctccagcccccc	0.652													5	43					0	0	1	0	0	C	70229866	T	C	70229866	3	2	246	1	0	0	0	0	1	0	0	0	1225	1551	54	4	1518	4	AUTS2	7	70229866	Missense_Mutation	SNP	T	TCGA-HT-A5R9-01A-11D-A289-08	45904882	70229866	88908797	21	10758											
BAG4	9530	broad.mit.edu	37	chr8	38065246	38065246	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actgtcagactgaagcacccCctcttagggggcaggttcca	9	8	11	13	0	2	2	1	1	1	1	3	2	3	2	3	3	1	3	3	3	2	2	rs150045830	byFrequency	TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr8:38065246C>G	uc003xky.2	+	2	877	c.595C>G	c.(595-597)Cct>Gct	p.P199A	BAG4_uc003xkz.2_Missense_Mutation_p.P163A	NM_004874	NP_004865	O95429	BAG4_HUMAN	Homo sapiens BCL2-associated athanogene 4 (BAG4), transcript variant 1, mRNA.	199					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				TGAAGCACCCCCTCTTAGGGG	0.488													25	35					0	0	1	0	0	G	38065246	C	G	38065246	3	3	246	1	0	0	0	0	1	0	0	0	1289	623	22	5	605	5	BAG4	8	38065246	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08		38065246	108298776	22	10759											
LYPLA1	10434	broad.mit.edu	37	chr8	54963679	54963679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagagaaccaaacatcagggGaaccaaagggtcacaatccc	18	3	9	11	0	2	1	2	0	0	1	3	3	3	2	3	3	3	0	3	3	6	0			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr8:54963679G>A	uc003xry.3	-	7	726	c.532C>T	c.(532-534)Ccc>Tcc	p.P178S	LYPLA1_uc011ldx.2_Missense_Mutation_p.P139S|LYPLA1_uc003xrz.3_Missense_Mutation_p.P157S	NM_006330	NP_006321	O75608	LYPA1_HUMAN	Homo sapiens lysophospholipase I (LYPLA1), mRNA.	178					fatty acid metabolic process|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytosol	lysophospholipase activity|palmitoyl-(protein) hydrolase activity	p.V177V(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			AACATCAGGGGAACCAAAGGG	0.413													5	88					0	0	1	0	0	A	54963679	G	A	54963679	3	1	246	1	0	0	0	0	1	0	0	0	9116	1174	41	3	168	3	LYPLA1	8	54963679	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08	16898433	54963679	91400343	23	10760											
HDHD3	81932	broad.mit.edu	37	chr9	116136465	116136465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtagttggggaagctgtggCtctgagccctgtatgcctgc	5	11	15	10	1	1	1	0	1	1	0	1	2	1	2	2	3	4	5	2	3	3	3			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr9:116136465C>T	uc022bme.1	-	0	170	c.170G>A	c.(169-171)aGc>aAc	p.S57N	HDHD3_uc004bhi.1_Missense_Mutation_p.S57N|HDHD3_uc004bhk.3_Missense_Mutation_p.S57N	NM_031219	NP_112496	Q9BSH5	HDHD3_HUMAN	Homo sapiens haloacid dehalogenase-like hydrolase domain containing 3 (HDHD3), mRNA.	57							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						GAAGCTGTGGCTCTGAGCCCT	0.657													26	37					0	0	1	0	0	T	116136465	C	T	116136465	3	4	246	1	0	0	0	0	1	0	0	0	7024	797	28	3	589	3	HDHD3	9	116136465	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08		116136465	25076966	24	10761											
TCF7L2	6934	broad.mit.edu	37	chr10	114911515	114911517	+	In_Frame_Del	DEL	AAG	AAG	-																															actccaaaaaggaagaagaaAagaagaagccccacataaag																										TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr10:114911515_114911517delAAG	uc021pyi.1	+	9	1540_1542	c.1033_1035delAAG	c.(1033-1035)aagdel	p.K347del	TCF7L2_uc001lah.3_In_Frame_Del_p.K329del|TCF7L2_uc010qro.2_In_Frame_Del_p.K324del|TCF7L2_uc001lae.4_In_Frame_Del_p.K347del|TCF7L2_uc010qrm.2_In_Frame_Del_p.K347del|TCF7L2_uc010qrn.2_In_Frame_Del_p.K290del|TCF7L2_uc021pyg.1_In_Frame_Del_p.K63del|TCF7L2_uc021pyh.1_In_Frame_Del_p.K329del|TCF7L2_uc021pyj.1_In_Frame_Del_p.K347del|TCF7L2_uc021pyk.1_In_Frame_Del_p.K329del|TCF7L2_uc021pyl.1_In_Frame_Del_p.K329del|TCF7L2_uc010qrp.2_In_Frame_Del_p.K324del|TCF7L2_uc021pym.1_In_Frame_Del_p.K320del|TCF7L2_uc021pyn.1_In_Frame_Del_p.K352del|TCF7L2_uc021pyo.1_In_Frame_Del_p.K352del|TCF7L2_uc021pyp.1_In_Frame_Del_p.K343del|TCF7L2_uc010qrq.2_In_Frame_Del_p.K320del|TCF7L2_uc001lac.4_In_Frame_Del_p.K324del|TCF7L2_uc010qrk.2_In_Frame_Del_p.K324del|TCF7L2_uc001lad.4_In_Frame_Del_p.K320del|TCF7L2_uc001lag.4_In_Frame_Del_p.K371del|TCF7L2_uc001laf.4_In_Frame_Del_p.K324del|TCF7L2_uc010qrl.2_In_Frame_Del_p.K324del|TCF7L2_uc010qrr.2_In_Frame_Del_p.K262del|TCF7L2_uc010qrs.2_In_Frame_Del_p.K218del|TCF7L2_uc010qrt.2_In_Frame_Del_p.K218del|TCF7L2_uc010qru.2_In_Frame_Del_p.K246del|TCF7L2_uc010qrv.2_In_Frame_Del_p.K164del|TCF7L2_uc010qrw.2_In_Frame_Del_p.K51del|TCF7L2_uc010qrx.2_In_Frame_Del_p.K204del|Mir_652_uc021pyq.1_5'Flank	NM_030756	NP_110383	Q9NQB0	TF7L2_HUMAN	Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA.	347	Mediates interaction with MAD2L2.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	PML body|beta-catenin-TCF7L2 complex|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		GGAAGAAGAAAAGAAGAAGCCCC	0.443			T	VTI1A	colorectal								19	56	---	---	---	---						-	114911517	AAG	-	114911515	7	5	246	1	0	1	0	1	0	0	0	0	15695	15	1	0	1216	0	TCF7L2	10	114911515	In_Frame_Del	DEL	AAG	TCGA-HT-A5R9-01A-11D-A289-08		114911515	20623232	25	10762											
TMEM216	51259	broad.mit.edu	37	chr11	61161357	61161357	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcttttgtattggcaggTgtcctgctaccatatccaac	7	14	9	11	0	0	0	0	0	0	0	2	0	2	0	3	3	3	4	3	3	4	6			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr11:61161357T>G	uc021qkf.1	+	3	409	c.137_splice	c.e3-1	p.G46_splice	TMEM216_uc010rlj.2_Splice_Site_p.G46_splice|TMEM216_uc001nrn.2_Splice_Site	NM_001173991	NP_001167462	Q9P0N5	TM216_HUMAN	Homo sapiens transmembrane protein 216 (TMEM216), transcript variant 3, mRNA.	39						integral to membrane		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438													16	35					0	0	1	0	0	G	61161357	T	G	61161357	5	3	246	1	0	0	0	0	0	0	1	0	16136	1710	59	5	148	5	TMEM216	11	61161357	Splice_Site	SNP	T	TCGA-HT-A5R9-01A-11D-A289-08		61161357	73845159	26	10763											
NUMA1	4926	broad.mit.edu	37	chr11	71733448	71733448	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagctcatggtagagtggtaTaagagcagcatggtcatcta	12	10	13	6	0	3	2	2	0	1	2	3	3	3	2	0	3	3	5	0	3	4	4			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr11:71733448T>G	uc001orl.1	-	6	481	c.309A>C	c.(307-309)ttA>ttC	p.L103F	NUMA1_uc001ork.1_Missense_Mutation_p.L103F|NUMA1_uc001orm.1_Missense_Mutation_p.L103F|NUMA1_uc009ysx.1_Missense_Mutation_p.L103F|NUMA1_uc001oro.1_Missense_Mutation_p.L103F|NUMA1_uc009ysy.2_Missense_Mutation_p.L103F|NUMA1_uc001orp.3_Missense_Mutation_p.L103F|NUMA1_uc001orq.3_Missense_Mutation_p.L103F|NUMA1_uc021qmw.1_Missense_Mutation_p.L103F	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	103					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TAGAGTGGTATAAGAGCAGCA	0.522			T	RARA	APL								6	189					0	0	1	0	0	G	71733448	T	G	71733448	3	3	246	1	0	0	0	0	1	0	0	0	10750	1403	49	5	6122	5	NUMA1	11	71733448	Missense_Mutation	SNP	T	TCGA-HT-A5R9-01A-11D-A289-08	10572091	71733448	63273068	27	10764											
SERPINH1	871	broad.mit.edu	37	chr11	75277978	75277978	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaaggacgtggagcgcaCggacggcgccctgctagtca	9	4	14	14	5	1	0	1	0	0	0	1	3	1	3	2	4	2	2	2	4	2	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr11:75277978C>T	uc001owr.3	+	1	882	c.584C>T	c.(583-585)aCg>aTg	p.T195M	SERPINH1_uc009yuf.3_Missense_Mutation_p.T195M|SERPINH1_uc009yug.3_Missense_Mutation_p.T195M|SERPINH1_uc001ows.3_Missense_Mutation_p.T195M|SERPINH1_uc001owt.3_5'Flank	NM_001235	NP_001226	P50454	SERPH_HUMAN	Homo sapiens serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1) (SERPINH1), transcript variant 2, mRNA.	195					regulation of proteolysis|response to unfolded protein	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					GTGGAGCGCACGGACGGCGCC	0.662													28	85					0	0	1	0	0	T	75277978	C	T	75277978	3	4	246	1	0	0	0	0	1	0	0	0	14117	536	19	1	586	1	SERPINH1	11	75277978	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	3544530	75277978	59728538	28	10765											
NFRKB	4798	broad.mit.edu	37	chr11	129758574	129758574	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctaagatgagttcattctgCtgctcagcactgtcttcagg	8	13	10	10	0	5	2	3	1	2	1	5	2	5	2	0	1	3	5	0	1	1	4			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr11:129758574C>A	uc001qfg.3	-	1	412	c.291G>T	c.(289-291)caG>caT	p.Q97H	NFRKB_uc001qfi.3_Missense_Mutation_p.Q84H|NFRKB_uc001qfh.3_Missense_Mutation_p.Q107H|NFRKB_uc010sbw.1_Missense_Mutation_p.Q84H	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.	84					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GTTCATTCTGCTGCTCAGCAC	0.488													4	79					0.150653	0.150653	1	1	0	A	129758574	C	A	129758574	3	1	246	1	0	0	0	0	1	0	0	0	10384	796	28	5	3779	5	NFRKB	11	129758574	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	54480596	129758574	5247942	29	10766											
IPO4	79711	broad.mit.edu	37	chr14	24651580	24651580	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggatggcctctccagcGtgctccagcaacatggcgtc	7	7	13	14	2	1	0	0	0	1	0	4	1	2	1	3	3	4	3	3	3	1	0			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr14:24651580G>A	uc001wmv.1	-	24	3523	c.2502C>T	c.(2500-2502)caC>caT	p.H834H	IPO4_uc001wmt.1_Silent_p.H312H|IPO4_uc001wmu.2_Silent_p.H496H|IPO4_uc001wmw.1_Non-coding_Transcript|IPO4_uc010tnz.1_Non-coding_Transcript|IPO4_uc001wmx.1_Silent_p.H698H|IPO4_uc001wmy.1_Silent_p.H698H|IPO4_uc001wmz.2_Silent_p.H834H	NM_024658	NP_078934	Q8TEX9	IPO4_HUMAN	Homo sapiens importin 4 (IPO4), mRNA.	834					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CCTCTCCAGCGTGCTCCAGCA	0.622													17	27					0	0	1	0	0	A	24651580	G	A	24651580	2	1	246	1	0	0	0	0	0	0	0	1	7795	1136	40	1		1	IPO4	14	24651580	Silent	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08		24651580	82697960	30	10767											
FKBP3	2287	broad.mit.edu	37	chr14	45590142	45590144	+	In_Frame_Del	DEL	TTC	TTC	-																															aacttaaaggcttggcatttTtcttcttctttgcacctgta																										TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr14:45590142_45590144delTTC	uc010tqf.2	-	4	818_820	c.468_470delGAA	c.(466-471)aagaaa>aaa	p.156_157KK>K		NM_002013	NP_002004	Q00688	FKBP3_HUMAN	Homo sapiens FK506 binding protein 3, 25kDa (FKBP3), mRNA.	156	PPIase FKBP-type.				protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity			NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						CTTGGCATTTTTCTTCTTCTTTG	0.32													23	57	---	---	---	---						-	45590144	TTC	-	45590142	7	5	246	1	0	1	0	1	0	0	0	0	5909	1841	64	0	216	0	FKBP3	14	45590142	In_Frame_Del	DEL	TTC	TCGA-HT-A5R9-01A-11D-A289-08	20938562	45590142	61759398	31	10768											
BCL11B	64919	broad.mit.edu	37	chr14	99641424	99641424	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcagccagcgccttggcCgcgccgccccccgcgcccgg	2	4	13	22	8	1	0	1	0	0	0	2	0	1	0	8	2	2	0	8	2	0	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr14:99641424C>T	uc001yga.3	-	3	2016	c.1749G>A	c.(1747-1749)gcG>gcA	p.A583A	BCL11B_uc001ygb.3_Silent_p.A512A	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	583	Gly-rich.					nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCGCCTTggccgcgccgcccc	0.731			T	TLX3	T-ALL								25	26					0	0	1	0	0	T	99641424	C	T	99641424	2	4	246	1	0	0	0	0	0	0	0	1	1364	639	23	2		2	BCL11B	14	99641424	Silent	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	54051282	99641424	7708116	32	10769											
PML	5371	broad.mit.edu	37	chr15	74290533	74290533	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacacacccgccctggataaCgtctttttcgagagtctgca	9	10	9	13	3	2	1	0	0	2	1	3	4	2	2	2	1	2	1	2	1	1	3			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr15:74290533C>T	uc002awv.3	+	1	458	c.318C>T	c.(316-318)aaC>aaT	p.N106N	PML_uc002awj.1_Silent_p.N106N|PML_uc002awm.3_Silent_p.N106N|PML_uc002awl.3_Silent_p.N106N|PML_uc002awk.3_Silent_p.N106N|PML_uc002awn.3_Silent_p.N106N|PML_uc002awo.3_Silent_p.N106N|PML_uc002awp.3_Silent_p.N106N|PML_uc002awq.3_Silent_p.N106N|PML_uc002awr.3_Silent_p.N106N|PML_uc002aws.3_Silent_p.N106N|PML_uc002awt.3_Silent_p.N106N|PML_uc002awu.3_Silent_p.N106N|PML_uc010ule.2_Intron|PML_uc002aww.1_Silent_p.N21N	NM_033238	NP_150241	P29590	PML_HUMAN	Homo sapiens promyelocytic leukemia (PML), transcript variant 1, mRNA.	106					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 resulting in induction of apoptosis|PML body organization|cell cycle arrest|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	PML body|cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus	DNA binding|SUMO binding|cobalt ion binding|protein binding|protein heterodimerization activity|protein homodimerization activity|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CCCTGGATAACGTCTTTTTCG	0.642			T	"RARA, PAX5"	"APL, ALL"								5	77					0	0	1	0	0	T	74290533	C	T	74290533	2	4	246	1	0	0	0	0	0	0	0	1	12135	535	19	1		1	PML	15	74290533	Silent	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08		74290533	28240859	33	10770											
IDH2	3418	broad.mit.edu	37	chr15	90631839	90631839	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcgccatgggcgtgccTgccaatggtgatgggcttgg	4	10	17	10	2	0	1	0	1	0	0	1	1	0	1	3	5	2	1	3	5	1	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr15:90631839T>C	uc002box.3	-	3	600	c.514A>G	c.(514-516)Agg>Ggg	p.R172G	IDH2_uc010uqb.2_Missense_Mutation_p.R120G|IDH2_uc010uqc.2_Missense_Mutation_p.R42G	NM_002168	NP_002159	P48735	IDHP_HUMAN	Homo sapiens isocitrate dehydrogenase 2 (NADP+), mitochondrial (IDH2), nuclear gene encoding mitochondrial protein, mRNA.	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding	p.R172K(242)|p.R172W(28)|p.R172M(23)|p.R172S(18)|p.R172?(13)|p.R172G(7)|p.G171D(4)|p.R172L(1)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			TGGGCGTGCCTGCCAATGGTG	0.627			M		GBM								37	56					0	0	1	0	0	C	90631839	T	C	90631839	3	2	246	1	0	0	0	0	1	0	0	0	7495	1579	55	4	876	4	IDH2	15	90631839	Missense_Mutation	SNP	T	TCGA-HT-A5R9-01A-11D-A289-08	16341306	90631839	11899553	34	10771											
MYO15A	51168	broad.mit.edu	37	chr17	18053797	18053797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagggggaggccagcccGgtggaggcagcagtagtggt	9	5	20	7	1	0	1	0	1	0	0	0	3	0	3	2	7	2	3	2	7	2	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr17:18053797G>A	uc021trm.1	+	34	7486	c.7267G>A	c.(7267-7269)Ggt>Agt	p.G2423S	MYO15A_uc021trl.1_Missense_Mutation_p.G2421S	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2423	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGGCCAGCCCGGTGGAGGCAG	0.617													33	64					0	0	1	0	0	A	18053797	G	A	18053797	3	1	246	1	0	0	0	0	1	0	0	0	10063	1116	39	2	7401	2	MYO15A	17	18053797	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08		18053797	63141413	35	10772											
LGALS9C	654346	broad.mit.edu	37	chr17	18387258	18387258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatcactgtcaatggggccGttctcagctgcagtggaacc	9	9	12	11	1	3	1	3	0	1	1	4	2	3	2	2	3	3	3	2	3	2	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr17:18387258G>A	uc002gtw.3	+	1	179	c.109G>A	c.(109-111)Gtt>Att	p.V37I	LGALS9C_uc010vyb.2_Intron	NM_001040078	NP_001035167	Q6DKI2	LEG9C_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9C (LGALS9C), mRNA.	37	Galectin 1.						sugar binding			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						CAATGGGGCCGTTCTCAGCTG	0.562													7	90					0	0	1	0	0	A	18387258	G	A	18387258	3	1	246	1	0	0	0	0	1	0	0	0	8750	1145	40	1	115	1	LGALS9C	17	18387258	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08	333461	18387258	62807952	36	10773											
KCNH4	23415	broad.mit.edu	37	chr17	40322247	40322247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgccgcgatgtaggcgctgCgccgtgatgggccgcccacc	4	6	16	15	6	0	1	0	1	0	0	0	2	0	1	5	2	2	2	5	2	1	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr17:40322247C>T	uc002hzb.2	-	7	1601	c.1268G>A	c.(1267-1269)cGc>cAc	p.R423H		NM_012285	NP_036417	Q9UQ05	KCNH4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA.	423					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GTAGGCGCTGCGCCGTGATGG	0.622													20	35					0	0	1	0	0	T	40322247	C	T	40322247	3	4	246	1	0	0	0	0	1	0	0	0	8034	768	27	1	1821	1	KCNH4	17	40322247	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	21934989	40322247	40872963	37	10774											
SP6	80320	broad.mit.edu	37	chr17	45925200	45925200	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctggaatccagcccttgaGactccggggcggctacttcc	6	8	13	14	2	0	1	0	1	0	1	3	3	3	2	4	5	2	2	4	5	2	3			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr17:45925200G>A	uc002imh.1	-	1	874	c.596C>T	c.(595-597)tCt>tTt	p.S199F	SP6_uc002img.1_Missense_Mutation_p.S199F|SP6_uc021tzc.1_Missense_Mutation_p.S199F	NM_199262	NP_954871	Q3SY56	SP6_HUMAN	Homo sapiens Sp6 transcription factor (SP6), mRNA.	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						CAGCCCTTGAGACTCCGGGGC	0.716													11	15					0	0	1	0	0	A	45925200	G	A	45925200	3	1	246	1	0	0	0	0	1	0	0	0	14968	942	33	3	538	3	SP6	17	45925200	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08	5602953	45925200	35270010	38	10775											
TRIM37	4591	broad.mit.edu	37	chr17	57153020	57153020	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcacctggtgctccacCtcctgaagtaaggattccaa	10	11	7	13	0	2	1	2	1	0	0	5	2	5	2	5	2	1	2	5	2	3	3			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr17:57153020C>A	uc002iwy.4	-	7	1116	c.672G>T	c.(670-672)gaG>gaT	p.E224D	TRIM37_uc002iwz.4_Missense_Mutation_p.E224D|TRIM37_uc002ixa.4_Missense_Mutation_p.E102D|TRIM37_uc010woc.2_Missense_Mutation_p.E190D	NM_001005207	NP_056109	O94972	TRI37_HUMAN	Homo sapiens tripartite motif containing 37 (TRIM37), transcript variant 2, mRNA.	224						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GGTGCTCCACCTCCTGAAGTA	0.323									Mulibrey Nanism				3	39					0.00909568	0.00934834	1	1	0	A	57153020	C	A	57153020	3	1	246	1	0	0	0	0	1	0	0	0	16508	680	24	5	2298	5	TRIM37	17	57153020	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	11227820	57153020	24042190	39	10776											
MYO5B	4645	broad.mit.edu	37	chr18	47566657	47566657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagaagggcagctggttgcGttgtacatcaattgggtatt	10	13	13	5	1	1	1	1	0	0	1	1	1	1	1	0	3	3	6	0	3	5	7			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr18:47566657G>A	uc002leb.2	-	2	454	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C	MYO5B_uc021ukb.1_Missense_Mutation_p.R55C	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	56	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGCTGGTTGCGTTGTACATCA	0.423													121	225					0	0	1	0	0	A	47566657	G	A	47566657	3	1	246	1	0	0	0	0	1	0	0	0	10079	1145	40	1	5532	1	MYO5B	18	47566657	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08		47566657	30510591	40	10777											
SOCS6	9306	broad.mit.edu	37	chr18	67993430	67993430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgtcgttttgttatacGtcagtataccagaatagact	10	15	8	8	2	1	2	1	0	0	2	2	2	1	2	2	0	2	3	2	0	6	7			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr18:67993430G>A	uc002lkr.1	+	1	1842	c.1526G>A	c.(1525-1527)cGt>cAt	p.R509H	SOCS6_uc010dqq.2_Missense_Mutation_p.R509H|SOCS6_uc021ulj.1_Missense_Mutation_p.R509H	NM_004232	NP_004223	O14544	SOCS6_HUMAN	Homo sapiens suppressor of cytokine signaling 6 (SOCS6), mRNA.	509	SOCS box.				JAK-STAT cascade|defense response|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)				TTTGTTATACGTCAGTATACC	0.468													34	51					0	0	1	0	0	A	67993430	G	A	67993430	3	1	246	1	0	0	0	0	1	0	0	0	14918	1145	40	1	1528	1	SOCS6	18	67993430	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08	20426773	67993430	10083818	41	10778											
TRMT1	55621	broad.mit.edu	37	chr19	13220750	13220750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccgctggggactcctgacGctttgccgagacgctgaagg	6	7	16	12	4	0	3	0	2	0	1	1	5	1	4	3	4	1	3	3	4	1	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:13220750G>A	uc002mwj.2	-	7	1335	c.1085C>T	c.(1084-1086)gCg>gTg	p.A362V	TRMT1_uc010xmy.1_5'Flank|TRMT1_uc002mwk.2_Intron|TRMT1_uc002mwl.3_Missense_Mutation_p.A362V|TRMT1_uc010xmz.1_Missense_Mutation_p.A148V	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	Homo sapiens TRM1 tRNA methyltransferase 1 homolog (S. cerevisiae) (TRMT1), transcript variant 1, mRNA.	362							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GACTCCTGACGCTTTGCCGAG	0.652													10	171					0	0	1	0	0	A	13220750	G	A	13220750	3	1	246	1	0	0	0	0	1	0	0	0	16558	1087	38	1	930	1	TRMT1	19	13220750	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08		13220750	45908233	42	10779											
NOTCH3	4854	broad.mit.edu	37	chr19	15271838	15271838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgctcctgcggggagacggGggtccctgggttgagcagct	4	7	18	12	3	0	2	0	1	0	1	2	3	2	2	3	5	3	4	3	5	0	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:15271838G>A	uc002nan.3	-	32	6677	c.6601C>T	c.(6601-6603)Ccc>Tcc	p.P2201S		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	2201					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGGGAGACGGGGGTCCCTGGG	0.741													7	6					0	0	1	0	0	A	15271838	G	A	15271838	3	1	246	1	0	0	0	0	1	0	0	0	10550	1232	43	3	368	3	NOTCH3	19	15271838	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08	2051088	15271838	43857145	43	10780											
NWD1	284434	broad.mit.edu	37	chr19	16860910	16860910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgggtgctcctggaccCggaggcctactgggaggtga	6	6	18	11	2	0	1	0	1	0	0	1	4	1	4	3	6	3	2	3	6	1	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:16860910C>T	uc002neu.4	+	5	1879	c.1457C>T	c.(1456-1458)cCg>cTg	p.P486L	NWD1_uc002net.4_Missense_Mutation_p.P351L|NWD1_uc002nev.4_Missense_Mutation_p.P280L|NWD1_uc021uqg.1_Missense_Mutation_p.P351L	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	486	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTCCTGGACCCGGAGGCCTAC	0.647													7	125					0	0	1	0	0	T	16860910	C	T	16860910	3	4	246	1	0	0	0	0	1	0	0	0	10781	652	23	2	1058	2	NWD1	19	16860910	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	1589072	16860910	42268073	44	10781											
CRTC1	23373	broad.mit.edu	37	chr19	18871031	18871031	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgggcatcggtggcgcCggccagggtaaggcagggac	7	4	18	12	3	0	0	0	0	0	0	1	1	0	1	3	7	0	3	3	7	1	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:18871031C>T	uc010ebv.3	+	8	1015	c.927C>T	c.(925-927)gcC>gcT	p.A309A	CRTC1_uc002nkb.4_Silent_p.A293A|CRTC1_uc010ebw.3_Silent_p.A158A	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN	Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.	293	Ser-rich.				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						TCGGTGGCGCCGGCCAGGGTA	0.667													9	17					0	0	1	0	0	T	18871031	C	T	18871031	2	4	246	1	0	0	0	0	0	0	0	1	3899	639	23	2		2	CRTC1	19	18871031	Silent	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	2010121	18871031	40257952	45	10782											
UPF1	5976	broad.mit.edu	37	chr19	18968249	18968249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggcatccggcccatcCgcctgcaggtccagtaccgg	5	7	13	16	3	0	0	0	0	0	0	3	0	3	0	6	4	3	4	6	4	1	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:18968249C>T	uc002nkg.3	+	14	2397	c.2122C>T	c.(2122-2124)Cgc>Tgc	p.R708C	UPF1_uc002nkf.3_Missense_Mutation_p.R697C|UPF1_uc002nkh.3_5'Flank	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	708					DNA repair|DNA replication|cell cycle|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|RNA binding|chromatin binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CCGGCCCATCCGCCTGCAGGT	0.642													43	54					0	0	1	0	0	T	18968249	C	T	18968249	3	4	246	1	0	0	0	0	1	0	0	0	17000	652	23	2	2147	2	UPF1	19	18968249	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	97218	18968249	40160734	46	10783											
CIC	23152	broad.mit.edu	37	chr19	42799067	42799069	+	In_Frame_Del	DEL	GAT	GAT	-																															atccgtgaggtgcgccagaaGatcatgcaggctgccactcc																										TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:42799067_42799069delGAT	uc002otf.1	+	19	4591_4593	c.4551_4553delGAT	c.(4549-4554)aagatc>aac	p.1517_1518KI>N		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.K1517delK(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGCGCCAGAAGATCATGCAGGCT	0.65			"Mis, F, S"		oligodendroglioma								44	36	---	---	---	---						-	42799069	GAT	-	42799067	7	5	246	1	0	1	0	1	0	0	0	0	3424	933	33	0	4629	0	CIC	19	42799067	In_Frame_Del	DEL	GAT	TCGA-HT-A5R9-01A-11D-A289-08	23830818	42799067	16329916	47	10784											
NLRP7	199713	broad.mit.edu	37	chr19	55451739	55451739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgttggtttctcagagtgaCgtcgtcatggaaattgtcaa	9	13	11	8	3	3	2	3	1	1	1	5	3	3	3	1	2	0	2	1	2	2	3			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:55451739C>T	uc002qih.4	-	3	524	c.448G>A	c.(448-450)Gtc>Atc	p.V150I	NLRP7_uc010esk.3_Missense_Mutation_p.V150I|NLRP7_uc002qig.4_Missense_Mutation_p.V150I|NLRP7_uc002qii.4_Missense_Mutation_p.V150I|NLRP7_uc010esl.3_Missense_Mutation_p.V178I	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	150							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CTCAGAGTGACGTCGTCATGG	0.498													144	70					0	0	1	0	0	T	55451739	C	T	55451739	3	4	246	1	0	0	0	0	1	0	0	0	10482	536	19	1	2697	1	NLRP7	19	55451739	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	12652672	55451739	3677244	48	10785											
TRPM2	7226	broad.mit.edu	37	chr21	45774548	45774548	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaagaaagcctcagttcGtggattcctgaaaacatcaa	15	8	8	10	1	2	2	2	1	0	1	4	3	3	3	2	1	3	2	2	1	5	2			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr21:45774548G>A	uc010gpt.1	+	1	283	c.183G>A	c.(181-183)tcG>tcA	p.S61S	TRPM2_uc002zet.1_Silent_p.S61S|TRPM2_uc002zeu.1_Silent_p.S61S|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.S61S	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	61						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCCTCAGTTCGTGGATTCCTG	0.458													11	94					0	0	1	0	0	A	45774548	G	A	45774548	2	1	246	1	0	0	0	0	0	0	0	1	16583	1132	40	1		1	TRPM2	21	45774548	Silent	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08		45774548	2355347	49	10786											
RBBP7	5931	broad.mit.edu	37	chrX	16887194	16887197	+	Splice_Site	DEL	CTTA	CTTA	-																															aataaaagttgccagaaaccCttacttagtcacttcaggaa																										TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chrX:16887194_16887197delCTTA	uc004cxt.3	-	2	519	c.161_splice	c.e2+1	p.K54_splice	RBBP7_uc004cxs.2_Splice_Site_p.K98_splice	NM_002893	NP_002884	Q16576	RBBP7_HUMAN	Homo sapiens retinoblastoma binding protein 7 (RBBP7), transcript variant 2, mRNA.	54					CenH3-containing nucleosome assembly at centromere|DNA replication|cell proliferation|cellular heat acclimation|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					GCCAGAAACCCTTACTTAGTCACT	0.392													37	52	---	---	---	---						-	16887197	CTTA	-	16887194	8	5	246	1	0	1	0	1	0	0	1	0	13104	696	24	0		0	RBBP7	23	16887194	Splice_Site	DEL	CTTA	TCGA-HT-A5R9-01A-11D-A289-08		16887194	138383366	50	10787											
PASD1	139135	broad.mit.edu	37	chrX	150793999	150793999	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaccttttgtgggagagcTcaggtgagaggtagtattga	10	11	16	4	0	1	3	1	2	0	2	1	6	1	4	1	4	2	3	1	4	3	5			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chrX:150793999T>C	uc004fev.4	+	7	958	c.626T>C	c.(625-627)cTc>cCc	p.L209P		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	209						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GTGGGAGAGCTCAGGTGAGAG	0.333													70	217					0	0	1	0	0	C	150793999	T	C	150793999	3	2	246	1	0	0	0	0	1	0	0	0	11471	1551	54	4	652	4	PASD1	23	150793999	Missense_Mutation	SNP	T	TCGA-HT-A5R9-01A-11D-A289-08	133906805	150793999	4476561	51	10788											
PLEKHN1	84069	broad.mit.edu	37	chr1	906524	906524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccggctgcggacggcgtcagGgcacgaacccggcggcagtg	6	3	18	14	7	1	0	1	0	0	0	1	2	1	1	2	6	2	3	2	6	1	0			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:906524G>A	uc001ace.3	+	5	835	c.800G>A	c.(799-801)gGg>gAg	p.G267E	PLEKHN1_uc001acd.3_Missense_Mutation_p.G215E|PLEKHN1_uc001acf.3_Missense_Mutation_p.G227E	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN	Homo sapiens pleckstrin homology domain containing, family N member 1 (PLEKHN1), transcript variant 1, mRNA.	267										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		ACGGCGTCAGGGCACGAACCC	0.692													11	10					0	0	1	0	0	A	906524	G	A	906524	3	1	247	1	0	0	0	0	1	0	0	0	12083	1232	43	3	706	3	PLEKHN1	1	906524	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		906524	248344097	1	10789											
CDK11B	984	broad.mit.edu	37	chr1	1571791	1571791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaaggtcatcttcttgactGctgggagctcgctgtagccg	6	12	13	10	2	3	2	1	2	2	0	4	3	3	3	1	2	3	4	1	2	2	3			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:1571791G>A	uc001agv.1	-	18	2047	c.1964C>T	c.(1963-1965)gCa>gTa	p.A655V	CDK11B_uc009vkj.2_Missense_Mutation_p.A314V|CDK11B_uc001ags.1_Missense_Mutation_p.A515V|CDK11B_uc001agt.1_Missense_Mutation_p.A440V|CDK11B_uc001aha.1_Missense_Mutation_p.A621V|CDK11B_uc001agw.1_Missense_Mutation_p.A605V|CDK11B_uc001agy.1_Missense_Mutation_p.A648V|CDK11B_uc001agx.1_Missense_Mutation_p.A639V|CDK11B_uc001agz.1_Missense_Mutation_p.A401V	NM_033486	NP_277021	P21127	CD11B_HUMAN	Homo sapiens cyclin-dependent kinase 11B (CDK11B), transcript variant 2, mRNA.	670	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						CTTCTTGACTGCTGGGAGCTC	0.572													5	42					0	0	1	0	0	A	1571791	G	A	1571791	3	1	247	1	0	0	0	0	1	0	0	0	3127	1319	46	3	390	3	CDK11B	1	1571791	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	665267	1571791	247678830	2	10790											
CDK11B	984	broad.mit.edu	37	chr1	1635943	1635943	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcgggggtgaccaggacActgcccccacttgtacgcag	8	5	13	15	3	0	1	0	1	0	0	0	2	0	2	4	3	2	2	4	3	1	2	rs1534950	by1000genomes	TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:1635943A>C	uc010nys.2	-	13	1688	c.1580T>G	c.(1579-1581)gTg>gGg	p.V527G	CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.4_Intron|CDK11B_uc001ahj.4_Intron|CDK11B_uc009vkp.3_Intron|CDK11B_uc009vkq.3_Intron|CDK11B_uc009vkr.3_Intron|CDK11B_uc009vks.3_Intron			P21127	CD11B_HUMAN	Homo sapiens cyclin-dependent kinase 11A (CDK11A), transcript variant 4, mRNA.	0	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						TGACCAGGACACTGCCCCCAC	0.657													9	18					0	0	1	0	0	C	1635943	A	C	1635943	3	2	247	1	0	0	0	0	1	0	0	0	3127	174	6	5		5	CDK11B	1	1635943	Missense_Mutation	SNP	A	TCGA-HT-A5RA-01A-11D-A289-08	64152	1635943	247614678	3	10791											
HSPB7	27129	broad.mit.edu	37	chr1	16343699	16343699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgcctgccccaccggggCgggctgtgggatgggctgct	2	9	18	12	2	0	0	0	0	0	0	0	1	0	1	4	5	3	4	4	5	0	1	rs143274675		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:16343699C>T	uc001axr.2	-	1	1045	c.482G>A	c.(481-483)cGc>cAc	p.R161H	HSPB7_uc001axo.2_Missense_Mutation_p.R68H|HSPB7_uc001axp.2_Missense_Mutation_p.R156H|HSPB7_uc001axq.2_Missense_Mutation_p.R160H|HSPB7_uc001axs.2_Missense_Mutation_p.R143H|CLCNKA_uc001axt.3_5'Flank	NM_014424	NP_055239	Q9UBY9	HSPB7_HUMAN	Homo sapiens heat shock 27kDa protein family, member 7 (cardiovascular) (HSPB7), mRNA.	68					regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CCCACCGGGGCGGGCTGTGGG	0.627													77	115					0	0	1	0	0	T	16343699	C	T	16343699	3	4	247	1	0	0	0	0	1	0	0	0	7422	768	27	1	317	1	HSPB7	1	16343699	Missense_Mutation	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	14707756	16343699	232906922	4	10792											
HSPG2	3339	broad.mit.edu	37	chr1	22176934	22176934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcccaacactcggcacaCgtactcgcccgagtcggcgg	7	5	12	17	6	0	0	0	0	0	0	3	1	0	0	2	3	3	3	2	3	2	1			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:22176934C>T	uc009vqd.3	-	55	7259	c.7219G>A	c.(7219-7221)Gtg>Atg	p.V2407M	HSPG2_uc001bfj.3_Missense_Mutation_p.V2406M	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	2406	Ig-like C2-type 9.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ACTCGGCACACGTACTCGCCC	0.657													10	18					0	0	1	0	0	T	22176934	C	T	22176934	3	4	247	1	0	0	0	0	1	0	0	0	7430	536	19	1	6127	1	HSPG2	1	22176934	Missense_Mutation	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	5833235	22176934	227073687	5	10793											
PTPRU	10076	broad.mit.edu	37	chr1	29611340	29611340	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaggggggcttgctgtcctCatccttctcctgggtgccat	3	12	13	13	0	2	0	1	0	1	0	5	0	4	0	4	4	2	3	4	4	0	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:29611340C>T	uc001bru.3	+	13	2406	c.2277C>T	c.(2275-2277)ctC>ctT	p.L759L	PTPRU_uc009vtq.3_Silent_p.L759L|PTPRU_uc009vtr.3_Silent_p.L759L|PTPRU_uc001brw.3_Silent_p.L759L	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	759					canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TTGCTGTCCTCATCCTTCTCC	0.617													37	62					0	0	1	0	0	T	29611340	C	T	29611340	2	4	247	1	0	0	0	0	0	0	0	1	12813	813	29	3		3	PTPRU	1	29611340	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	7434406	29611340	219639281	6	10794											
MKNK1	8569	broad.mit.edu	37	chr1	47024299	47024299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacggcctgcctgggccaggGcccgtctccgggccaggcgt	3	5	16	17	4	1	0	0	0	1	0	2	0	1	0	6	5	1	0	6	5	0	0			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:47024299G>A	uc001cqb.3	-	13	1590	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V	MKNK1_uc010omd.2_Missense_Mutation_p.A313V|MKNK1_uc001cqc.3_Missense_Mutation_p.A408V|MKNK1_uc009vyi.3_3'UTR|MKNK1_uc010ome.2_3'UTR|LOC100507423_uc021onb.1_Intron	NM_003684	NP_003675	Q9BUB5	MKNK1_HUMAN	Homo sapiens MAP kinase interacting serine/threonine kinase 1 (MKNK1), transcript variant 1, mRNA.	449					intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					CTGGGCCAGGGCCCGTCTCCG	0.622													20	38					0	0	1	0	0	A	47024299	G	A	47024299	3	1	247	1	0	0	0	0	1	0	0	0	9604	1203	42	3	55	3	MKNK1	1	47024299	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	17412959	47024299	202226322	7	10795											
C8B	732	broad.mit.edu	37	chr1	57411659	57411659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctctgaaggaactcgtaatGgagcatgaggcttctgggtt	9	12	13	7	1	2	2	0	2	2	0	4	4	2	4	0	4	2	4	0	4	3	3			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:57411659G>A	uc001cyp.3	-	6	1007	c.940C>T	c.(940-942)Cat>Tat	p.H314Y	C8B_uc010oon.2_Missense_Mutation_p.H252Y|C8B_uc010ooo.2_Missense_Mutation_p.H262Y	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	314	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						AACTCGTAATGGAGCATGAGG	0.468													32	38					0	0	1	0	0	A	57411659	G	A	57411659	3	1	247	1	0	0	0	0	1	0	0	0	2417	1348	47	3	859	3	C8B	1	57411659	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	10387360	57411659	191838962	8	10796											
SNAPIN	23557	broad.mit.edu	37	chr1	153632019	153632021	+	In_Frame_Del	DEL	AAC	AAC	-																															ggcgacgcgttgtcttggttAacaacattctacagaatgct																										TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:153632019_153632021delAAC	uc001fcq.3	+	2	361_363	c.286_288delAAC	c.(286-288)aacdel	p.N97del		NM_012437	NP_036569	O95295	SNAPN_HUMAN	Homo sapiens SNAP-associated protein (SNAPIN), mRNA.	97					intracellular protein transport|synaptic vesicle exocytosis	BLOC-1 complex|cell junction|perinuclear region of cytoplasm|synaptic vesicle membrane|synaptosome	SNARE binding			lung(3)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTCTTGGTTAACAACATTCTAC	0.433													47	72	---	---	---	---						-	153632021	AAC	-	153632019	7	5	247	1	0	1	0	1	0	0	0	0	14839	362	13	0	296	0	SNAPIN	1	153632019	In_Frame_Del	DEL	AAC	TCGA-HT-A5RA-01A-11D-A289-08	96220360	153632019	95618602	9	10797											
PFKFB2	5208	broad.mit.edu	37	chr1	207252343	207252343	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagacgcccctccgcagcGtccctcatgttgccttgcta	5	9	9	18	4	1	1	1	0	0	1	3	1	3	1	5	0	3	4	5	0	1	3	rs144692490		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:207252343G>A	uc001hfh.3	+	14	1504	c.1395G>A	c.(1393-1395)gcG>gcA	p.A465A	PFKFB2_uc010psc.2_Silent_p.A367A|PFKFB2_uc010psd.2_Silent_p.A258A	NM_001018053	NP_001018063	O60825	F262_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 (PFKFB2), transcript variant 2, mRNA.	0	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					CCTCCGCAGCGTCCCTCATGT	0.552													75	94					0	0	1	0	0	A	207252343	G	A	207252343	2	1	247	1	0	0	0	0	0	0	0	1	11761	1132	40	1		1	PFKFB2	1	207252343	Silent	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	53620324	207252343	41998278	10	10798											
LTBP1	4052	broad.mit.edu	37	chr2	33525560	33525560	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatctatgtgtaaacgggcAgtgcaaaaataccgagggct	14	8	12	7	2	1	0	0	0	1	0	1	2	1	0	1	2	3	4	1	2	7	3			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr2:33525560A>G	uc021vft.1	+	20	3301	c.3278A>G	c.(3277-3279)cAg>cGg	p.Q1093R	LTBP1_uc002rou.3_Missense_Mutation_p.Q767R|LTBP1_uc002rov.3_Missense_Mutation_p.Q714R|LTBP1_uc010ymz.2_Missense_Mutation_p.Q767R|LTBP1_uc010yna.2_Missense_Mutation_p.Q714R|LTBP1_uc010ynb.2_Missense_Mutation_p.Q33R	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	1093	EGF-like 9; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GTAAACGGGCAGTGCAAAAAT	0.473													55	62					0	0	1	0	0	G	33525560	A	G	33525560	3	3	247	1	0	0	0	0	1	0	0	0	9073	188	7	4	3415	4	LTBP1	2	33525560	Missense_Mutation	SNP	A	TCGA-HT-A5RA-01A-11D-A289-08		33525560	209673813	11	10799											
SLC16A14	151473	broad.mit.edu	37	chr2	230923895	230923895	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattcttccagccattccacGttgaggacacccagggccat	10	9	8	14	1	1	1	0	1	1	0	3	2	3	2	5	2	1	1	5	2	1	4			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr2:230923895G>A	uc002vqd.2	-	1	633	c.174C>T	c.(172-174)aaC>aaT	p.N58N	FBXO36_uc010fxi.1_Intron|SLC16A14_uc002vqe.3_Silent_p.N58N|SLC16A14_uc002vqf.3_Silent_p.N58N	NM_152527	NP_689740	Q7RTX9	MOT14_HUMAN	Homo sapiens solute carrier family 16, member 14 (monocarboxylic acid transporter 14) (SLC16A14), mRNA.	58						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GCCATTCCACGTTGAGGACAC	0.562													52	49					0	0	1	0	0	A	230923895	G	A	230923895	2	1	247	1	0	0	0	0	0	0	0	1	14407	1136	40	1		1	SLC16A14	2	230923895	Silent	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	197398335	230923895	12275478	12	10800											
MST1	4485	broad.mit.edu	37	chr3	49723596	49723596	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggcgcctctgagccgtcgGggttccggcagaagttctcc	5	8	15	13	4	2	2	0	1	2	1	5	2	3	2	4	4	1	3	4	4	1	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr3:49723596G>A	uc003cxg.3	-	8	1118	c.1046C>T	c.(1045-1047)cCc>cTc	p.P349L	MST1_uc011bcs.1_Missense_Mutation_p.P388S|MST1_uc010hkx.2_3'UTR|MST1_uc011bct.1_3'UTR	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	335	Kringle 3.				proteolysis	extracellular region	serine-type endopeptidase activity	p.P335L(5)		NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGAGCCGTCGGGGTTCCGGCA	0.667													3	27					0	0	1	0	0	A	49723596	G	A	49723596	3	1	247	1	0	0	0	0	1	0	0	0	9890	1232	43	3	1171	3	MST1	3	49723596	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		49723596	148298834	13	10801											
CD200R1L	344807	broad.mit.edu	37	chr3	112546321	112546321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggacgaatctgaaggtccGaattctgatcaggtctagag	11	9	12	9	3	4	3	1	2	3	1	5	6	5	4	2	3	0	0	2	3	4	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr3:112546321G>A	uc003dzi.1	-	2	549	c.323C>T	c.(322-324)tCg>tTg	p.S108L	CD200R1L_uc010hqf.1_Missense_Mutation_p.S87L|CD200R1L_uc011bhw.1_Missense_Mutation_p.S87L	NM_001008784	NP_001186144	Q6Q8B3	MO2R2_HUMAN	Homo sapiens CD200 receptor 1-like (CD200R1L), transcript variant 1, mRNA.	108	Ig-like V-type.					integral to membrane	receptor activity	p.S108S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						CTGAAGGTCCGAATTCTGATC	0.463													47	65					0	0	1	0	0	A	112546321	G	A	112546321	3	1	247	1	0	0	0	0	1	0	0	0	2982	1059	37	2	508	2	CD200R1L	3	112546321	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	62822725	112546321	85476109	14	10802											
MUC4	4585	broad.mit.edu	37	chr3	195488980	195488980	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggagcccctccgtgcggttCtggtactcgggcgggaggct	4	8	17	12	4	1	0	0	0	1	0	3	2	2	2	3	6	3	3	3	6	1	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr3:195488980C>T	uc021xjp.1	-	13	14646	c.14490G>A	c.(14488-14490)caG>caA	p.Q4830Q	MUC4_uc003fuz.3_Silent_p.Q428Q|MUC4_uc003fva.3_Silent_p.Q310Q|MUC4_uc003fvb.3_Silent_p.Q346Q|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Silent_p.Q346Q|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_Silent_p.Q339Q|MUC4_uc021xjn.1_Silent_p.Q519Q|MUC4_uc021xjo.1_Silent_p.Q310Q|MUC4_uc021xjg.1_Silent_p.Q310Q|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Silent_p.Q394Q|MUC4_uc021xjj.1_Silent_p.Q394Q|MUC4_uc021xjk.1_Silent_p.Q571Q|MUC4_uc021xjl.1_Silent_p.Q310Q|MUC4_uc003fvo.3_Silent_p.Q594Q|MUC4_uc003fvp.3_Silent_p.Q543Q	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1587					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CCGTGCGGTTCTGGTACTCGG	0.736													10	25					0	0	1	0	0	T	195488980	C	T	195488980	2	4	247	1	0	0	0	0	0	0	0	1	9978	912	32	3		3	MUC4	3	195488980	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	82942659	195488980	2533450	15	10803											
EXOC1	55763	broad.mit.edu	37	chr4	56734654	56734654	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaatgcggaagcctttgcaGaaaaattgtccagagagctg	13	8	12	8	2	0	2	0	0	0	2	1	5	1	3	2	1	4	2	2	1	4	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr4:56734654G>T	uc003hbe.1	+	4	726	c.568G>T	c.(568-570)Gaa>Taa	p.E190*	EXOC1_uc003hbf.1_Nonsense_Mutation_p.E190*|EXOC1_uc003hbg.1_Nonsense_Mutation_p.E190*	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	Homo sapiens exocyst complex component 1 (EXOC1), transcript variant 1, mRNA.	190					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AGCCTTTGCAGAAAAATTGTC	0.393													25	31					2.41591e-17	2.49827e-17	1	1	0	T	56734654	G	T	56734654	4	4	247	1	0	0	0	0	0	1	0	0	5301	943	33	5	582	5	EXOC1	4	56734654	Nonsense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		56734654	134419622	16	10804											
DCHS2	54798	broad.mit.edu	37	chr4	155176790	155176790	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagaatactcaatcaggccGttcaaaccactgtccaagtc	14	9	6	12	1	3	1	3	0	0	1	5	1	4	1	3	1	2	1	3	1	6	3			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr4:155176790G>A	uc003inw.2	-	20	5457	c.5457C>T	c.(5455-5457)aaC>aaT	p.N1819N		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1819	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAATCAGGCCGTTCAAACCAC	0.408													22	18					0	0	1	0	0	A	155176790	G	A	155176790	2	1	247	1	0	0	0	0	0	0	0	1	4288	1136	40	1		1	DCHS2	4	155176790	Silent	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	98442136	155176790	35977486	17	10805											
NPY5R	4889	broad.mit.edu	37	chr4	164271443	164271443	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatggatttagagctcgaCgagtattataacaagacact	16	11	8	6	2	0	2	0	0	0	2	1	5	0	3	0	1	2	2	0	1	7	6			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr4:164271443C>T	uc003iqn.3	+	3	200	c.18C>T	c.(16-18)gaC>gaT	p.D6D	NPY5R_uc021xtw.1_Silent_p.D6D	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	6					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TAGAGCTCGACGAGTATTATA	0.358													23	36					0	0	1	0	0	T	164271443	C	T	164271443	2	4	247	1	0	0	0	0	0	0	0	1	10610	535	19	1		1	NPY5R	4	164271443	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	9094653	164271443	26882833	18	10806											
FAM81B	153643	broad.mit.edu	37	chr5	94749822	94749822	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttcgaaaagaggaatcgctCgccaggaagttactggaaag	14	8	12	7	3	0	1	0	0	0	1	3	5	0	4	1	3	1	2	1	3	6	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr5:94749822C>T	uc003kla.1	+	3	511	c.465C>T	c.(463-465)ctC>ctT	p.L155L	FAM81B_uc010jbe.1_5'UTR	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.	155								p.S154L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		AGGAATCGCTCGCCAGGAAGT	0.463													39	46					0	0	1	0	0	T	94749822	C	T	94749822	2	4	247	1	0	0	0	0	0	0	0	1	5629	871	31	2		2	FAM81B	5	94749822	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08		94749822	86165438	19	10807											
HLA-G	3135	broad.mit.edu	37	chr6	29855969	29855969	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacgagagaacctgcggaTcgcgctccgctactacaacc	11	6	10	14	5	0	2	0	1	0	1	2	5	1	3	3	1	6	2	3	1	5	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr6:29855969T>C	uc010jro.3	+	1	463	c.317T>C	c.(316-318)aTc>aCc	p.I106T	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_5'Flank|HLA-G_uc021ytv.1_Intron|HLA-J_uc021ytx.1_5'Flank			P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, H (pseudogene) (HLA-H), non-coding RNA.	104	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						AACCTGCGGATCGCGCTCCGC	0.697													3	20					0	0	1	0	0	C	29855969	T	C	29855969	3	2	247	1	0	0	0	0	1	0	0	0	7212	1450	50	3		3	HLA-G	6	29855969	Missense_Mutation	SNP	T	TCGA-HT-A5RA-01A-11D-A289-08		29855969	141259098	20	10808											
STK19	8859	broad.mit.edu	37	chr6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A																															attcagcgacagtggcgggcINSaaacccctcccggggcgggg																										TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr6:31939829_31939830insA	uc003nyv.3	+	0	184_185	c.56_57insA	c.(55-57)gcafs	p.A19fs	DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.3_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.2_Frame_Shift_Ins_p.A19fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.3_Frame_Shift_Ins_p.A19fs|STK19_uc010jtn.1_5'Flank	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	19						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													8	189	---	---	---	---						A	31939830	-	A	31939829	7	5	247	1	0	1	1	0	0	0	0	0	15291	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-HT-A5RA-01A-11D-A289-08	2083860	31939829	139175238	21	10809											
TULP4	56995	broad.mit.edu	37	chr6	158923248	158923248	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaccacagcagcacccccGccccctctgccgcccccaca	7	2	5	27	2	1	0	0	0	1	0	1	0	1	0	9	0	3	2	9	0	0	0			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr6:158923248G>C	uc003qrf.3	+	12	3910	c.2553G>C	c.(2551-2553)ccG>ccC	p.P851P	TULP4_uc003qrg.3_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	851					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAGCACCCCCGCCCCCTCTGC	0.657													6	17					0	0	1	0	0	C	158923248	G	C	158923248	2	2	247	1	0	0	0	0	0	0	0	1	16773	1074	38	5		5	TULP4	6	158923248	Silent	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	126983419	158923248	12191819	22	10810											
SEPT7	989	broad.mit.edu	37	chr7	35872445	35872445	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggctatgtgggatttgccaAtctcccaaatcaagtataca	13	11	8	9	0	2	0	1	0	1	0	3	1	2	1	2	2	2	2	2	2	6	4	rs11538083		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:35872445A>G	uc010kxc.3	+	1	322	c.98A>G	c.(97-99)aAt>aGt	p.N33S	SEPT7_uc011kat.2_Missense_Mutation_p.N33S|SEPT7_uc011kau.2_Intron|SEPT7_uc011kav.2_5'UTR	NM_001788	NP_001779	Q16181	SEPT7_HUMAN	Homo sapiens septin 7 (SEPT7), transcript variant 1, mRNA.	35					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	p.V32G(1)|p.V32V(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						GGATTTGCCAATCTCCCAAAT	0.373													64	87					0	0	1	0	0	G	35872445	A	G	35872445	3	3	247	1	0	0	0	0	1	0	0	0	14069	101	4	3	108	3	SEPT7	7	35872445	Missense_Mutation	SNP	A	TCGA-HT-A5RA-01A-11D-A289-08		35872445	123266218	23	10811											
ZAN	7455	broad.mit.edu	37	chr7	100377162	100377162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccgacctccgcagggcgCgggaaaagtgcgaggcagcg	8	2	18	13	7	0	0	0	0	0	0	1	3	1	1	3	4	2	2	3	4	2	0			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:100377162C>T	uc003uwj.3	+	35	6574	c.6409C>T	c.(6409-6411)Cgg>Tgg	p.R2137W	ZAN_uc003uwk.3_Missense_Mutation_p.R2137W|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Missense_Mutation_p.R225W	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2138	VWFD 3.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCGCAGGGCGCGGGAAAAGTG	0.642													10	28					0	0	1	0	0	T	100377162	C	T	100377162	3	4	247	1	0	0	0	0	1	0	0	0	17510	759	27	1	6545	1	ZAN	7	100377162	Missense_Mutation	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	64504717	100377162	58761501	24	10812											
GRM8	2918	broad.mit.edu	37	chr7	126173579	126173579	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagcacgtaactaagttcGcgtcctgaagccctcacgat	11	8	10	12	4	1	1	1	1	0	0	3	3	2	2	2	1	3	3	2	1	3	3			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:126173579G>A	uc003vlr.2	-	7	2168	c.1857C>T	c.(1855-1857)cgC>cgT	p.R619R	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.R619R|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	619					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.R619R(2)|p.R619L(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AACTAAGTTCGCGTCCTGAAG	0.458										HNSCC(24;0.065)			33	74					0	0	1	0	0	A	126173579	G	A	126173579	2	1	247	1	0	0	0	0	0	0	0	1	6803	1074	38	1		1	GRM8	7	126173579	Silent	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	25796417	126173579	32965084	25	10813											
ADCK2	90956	broad.mit.edu	37	chr7	140373257	140373257	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgccaggctctgctggcttCtgctgggcactttgcccaag	5	11	12	13	0	2	0	0	0	2	0	2	0	2	0	2	3	4	5	2	3	1	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:140373257C>G	uc003vvy.1	+	0	305	c.127C>G	c.(127-129)Ctg>Gtg	p.L43V	ADCK2_uc003vvz.3_Missense_Mutation_p.L43V	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN	Homo sapiens aarF domain containing kinase 2 (ADCK2), mRNA.	43						integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CTGCTGGCTTCTGCTGGGCAC	0.682													19	34					0	0	1	0	0	G	140373257	C	G	140373257	3	3	247	1	0	0	0	0	1	0	0	0	289	912	32	5	129	5	ADCK2	7	140373257	Missense_Mutation	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	14199678	140373257	18765406	26	10814											
TRPV6	55503	broad.mit.edu	37	chr7	142573633	142573633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtccactgggtgtgcttccGcttctgcatcaggtgctgaa	5	12	12	12	2	2	1	1	1	1	0	4	1	4	1	2	2	3	4	2	2	1	2	rs146718533		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:142573633G>A	uc003wbx.2	-	6	1016	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	TRPV6_uc003wbw.1_Missense_Mutation_p.R49W|TRPV6_uc010lou.1_Missense_Mutation_p.R134W	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	263					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GTGTGCTTCCGCTTCTGCATC	0.522													78	170					0	0	1	0	0	A	142573633	G	A	142573633	3	1	247	1	0	0	0	0	1	0	0	0	16597	1086	38	1	1426	1	TRPV6	7	142573633	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	2200376	142573633	16565030	27	10815											
TAS2R40	259286	broad.mit.edu	37	chr7	142919653	142919653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagcttcagctttcctctctCgagagatgtcttcaatgtgt	8	15	8	10	1	4	1	2	0	2	1	7	3	5	1	1	0	2	2	1	0	2	3			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:142919653C>T	uc011ksx.2	+	0	482	c.482C>T	c.(481-483)tCg>tTg	p.S161L		NM_176882	NP_795363	P59535	T2R40_HUMAN	Homo sapiens taste receptor, type 2, member 40 (TAS2R40), mRNA.	161					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					TTTCCTCTCTCGAGAGATGTC	0.458													62	150					0	0	1	0	0	T	142919653	C	T	142919653	3	4	247	1	0	0	0	0	1	0	0	0	15575	893	31	2	484	2	TAS2R40	7	142919653	Missense_Mutation	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	346020	142919653	16219010	28	10816											
CNTNAP2	26047	broad.mit.edu	37	chr7	147259309	147259309	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggatagatcctgatggcagCggacctctggggcctctgaa	8	9	14	10	1	2	3	0	2	2	1	3	5	3	5	3	5	1	1	3	5	2	1			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:147259309C>T	uc003weu.2	+	11	2373	c.1857C>T	c.(1855-1857)agC>agT	p.S619S		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	619	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTGATGGCAGCGGACCTCTGG	0.398										HNSCC(39;0.1)			42	94					0	0	1	0	0	T	147259309	C	T	147259309	2	4	247	1	0	0	0	0	0	0	0	1	3647	767	27	1		1	CNTNAP2	7	147259309	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	4339656	147259309	11879354	29	10817											
DEFA4	1669	broad.mit.edu	37	chr8	6793553	6793553	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagaacgttaatcgacacGcgtgcagcagtatgtgaaac	14	7	11	9	4	0	2	0	1	0	1	1	3	0	2	0	0	5	5	0	0	4	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr8:6793553G>A	uc003wqu.1	-	2	334	c.283C>T	c.(283-285)Cgt>Tgt	p.R95C		NM_001925	NP_001916	P12838	DEF4_HUMAN	Homo sapiens defensin, alpha 4, corticostatin (DEFA4), mRNA.	95					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TAATCGACACGCGTGCAGCAG	0.507													66	51					0	0	1	0	0	A	6793553	G	A	6793553	3	1	247	1	0	0	0	0	1	0	0	0	4391	1087	38	1	14	1	DEFA4	8	6793553	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		6793553	139570469	30	10818											
FER1L6	654463	broad.mit.edu	37	chr8	125107242	125107242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaacacatagaaactcGgccactgtaccacaaggata	15	7	7	12	1	0	2	0	1	0	1	2	3	1	3	3	2	3	1	3	2	6	3			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr8:125107242G>A	uc003yqw.3	+	34	4864	c.4658G>A	c.(4657-4659)cGg>cAg	p.R1553Q	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1553						integral to membrane		p.R1553R(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATAGAAACTCGGCCACTGTAC	0.478													14	39					0	0	1	0	0	A	125107242	G	A	125107242	3	1	247	1	0	0	0	0	1	0	0	0	5815	1116	39	2	4792	2	FER1L6	8	125107242	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	118313689	125107242	21256780	31	10819											
EPPK1	83481	broad.mit.edu	37	chr8	144941624	144941624	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacccggtggcggcctgcGcctccagcagccaagtcgca	7	4	14	16	4	0	0	0	0	0	0	2	1	1	1	5	4	4	2	5	4	2	0			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr8:144941624G>A	uc003zaa.1	-	0	5811	c.5798C>T	c.(5797-5799)gCg>gTg	p.A1933V		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1933						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.A1933A(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCGGCCTGCGCCTCCAGCAG	0.667													35	64					0	0	1	0	0	A	144941624	G	A	144941624	3	1	247	1	0	0	0	0	1	0	0	0	5190	1087	38	1	1468	1	EPPK1	8	144941624	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	19834382	144941624	1422398	32	10820											
PLEC	5339	broad.mit.edu	37	chr8	144990367	144990367	+	Frame_Shift_Del	DEL	C	C	-																															aggccacggcagactcagggCcccccagggaggccgaggac																										TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr8:144990367delC	uc003zaf.1	-	31	14203	c.14033delG	c.(14032-14034)ggcfs	p.G4678fs	PLEC_uc003zab.1_Frame_Shift_Del_p.G4541fs|PLEC_uc003zac.1_Frame_Shift_Del_p.G4545fs|PLEC_uc003zad.2_Frame_Shift_Del_p.G4541fs|PLEC_uc003zae.1_Frame_Shift_Del_p.G4509fs|PLEC_uc003zag.1_Frame_Shift_Del_p.G4519fs|PLEC_uc003zah.2_Frame_Shift_Del_p.G4527fs|PLEC_uc003zaj.2_Frame_Shift_Del_p.G4568fs	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	4678	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGACTCAGGGCCCCCCAGGGA	0.716													2	4	---	---	---	---						-	144990367	C	-	144990367	7	5	247	1	0	1	0	1	0	0	0	0	12052	739	26	0	25	0	PLEC	8	144990367	Frame_Shift_Del	DEL	C	TCGA-HT-A5RA-01A-11D-A289-08	48743	144990367	1373655	33	10821											
RUSC2	9853	broad.mit.edu	37	chr9	35546640	35546640	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaggtggtgggagcacaaGacctaatcccttctgcccac	9	8	12	12	0	1	1	0	0	1	1	2	3	2	3	3	4	2	1	3	4	2	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr9:35546640G>C	uc003zww.3	+	1	377	c.122G>C	c.(121-123)aGa>aCa	p.R41T	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Missense_Mutation_p.R41T	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	41						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GGGAGCACAAGACCTAATCCC	0.592													6	83					0	0	1	0	0	C	35546640	G	C	35546640	3	2	247	1	0	0	0	0	1	0	0	0	13751	942	33	5	124	5	RUSC2	9	35546640	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		35546640	105666791	34	10822											
RUSC2	9853	broad.mit.edu	37	chr9	35548107	35548107	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttgagtgagggccctgcagCcatggccgggcctggctccc	4	7	15	15	1	0	2	0	2	0	0	1	2	1	2	5	4	2	2	5	4	0	1			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr9:35548107C>A	uc003zww.3	+	1	1844	c.1589C>A	c.(1588-1590)gCc>gAc	p.A530D	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Missense_Mutation_p.A530D	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	530						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GGCCCTGCAGCCATGGCCGGG	0.667													15	36					1.5739e-10	1.60927e-10	1	1	0	A	35548107	C	A	35548107	3	1	247	1	0	0	0	0	1	0	0	0	13751	739	26	5	1591	5	RUSC2	9	35548107	Missense_Mutation	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	1467	35548107	105665324	35	10823											
PTAR1	375743	broad.mit.edu	37	chr9	72349082	72349082	+	Frame_Shift_Del	DEL	C	C	-																															acacctgtgaatccatgtttCtggactctttggaaacttgg																										TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr9:72349082delC	uc004ahj.4	-	3	434	c.412delG	c.(412-414)gaafs	p.E138fs	PTAR1_uc004ahi.3_Frame_Shift_Del_p.E59fs	NM_001099666	NP_001093136	Q7Z6K3	PTAR1_HUMAN	Homo sapiens protein prenyltransferase alpha subunit repeat containing 1 (PTAR1), mRNA.	138					protein prenylation		protein prenyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						ATCCATGTTTCTGGACTCTTT	0.388													16	17	---	---	---	---						-	72349082	C	-	72349082	7	5	247	1	0	1	0	1	0	0	0	0	12724	922	32	0	816	0	PTAR1	9	72349082	Frame_Shift_Del	DEL	C	TCGA-HT-A5RA-01A-11D-A289-08	36800975	72349082	68864349	36	10824											
WAPAL	23063	broad.mit.edu	37	chr10	88231975	88231975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatcttacctaaggcaacGtgtgtttagaggctgagtgc	11	11	12	7	1	1	3	0	1	1	2	1	3	1	3	1	2	3	3	1	2	5	4			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr10:88231975G>A	uc001kdn.3	-	7	2140	c.2131C>T	c.(2131-2133)Cgt>Tgt	p.R711C	WAPAL_uc009xsv.3_5'Flank|WAPAL_uc001kdo.3_Missense_Mutation_p.R674C|WAPAL_uc009xsw.3_Missense_Mutation_p.R668C	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	Homo sapiens wings apart-like homolog (Drosophila) (WAPAL), mRNA.	674	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of DNA replication|negative regulation of chromatin binding|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CTAAGGCAACGTGTGTTTAGA	0.333													16	6					0	0	1	0	0	A	88231975	G	A	88231975	3	1	247	1	0	0	0	0	1	0	0	0	17245	1145	40	1	1604	1	WAPAL	10	88231975	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		88231975	47302772	37	10825											
PTEN	5728	broad.mit.edu	37	chr10	89692877	89692877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagatgacaatcatgttgcaGcaattcactgtaaagctgga	15	10	9	7	0	2	2	2	1	0	1	2	3	2	3	0	1	3	5	0	1	5	3			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr10:89692877G>A	uc001kfb.3	+	4	1393	c.361G>A	c.(361-363)Gca>Aca	p.A121T	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	121	Phosphatase tensin-type.		A -> G (in HNSCC).|A -> P (in glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4).		T cell receptor signaling pathway|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 G1/S transition of mitotic cell cycle|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 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	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion 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.0?(37)|p.A121P(6)|p.?(5)|p.R55fs*1(5)|p.A121_F145del(2)|p.Y27fs*1(2)|p.A121E(2)|p.Y27_N212>Y(2)|p.F56fs*2(1)|p.A121fs*4(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)		TCATGTTGCAGCAATTCACTG	0.393		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)			54	23					0	0	1	0	0	A	89692877	G	A	89692877	3	1	247	1	0	0	0	0	1	0	0	0	12738	971	34	3	379	3	PTEN	10	89692877	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	1460902	89692877	45841870	38	10826											
TNNT3	7140	broad.mit.edu	37	chr11	1956135	1956135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtttggggagaagctgaaaCgccagaaatatgacgtgagt	14	8	14	5	2	0	5	0	3	0	2	0	6	0	5	1	2	2	2	1	2	4	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr11:1956135C>T	uc001luu.4	+	13	879	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C	TNNT3_uc001lun.2_Missense_Mutation_p.R119C|TNNT3_uc001luw.4_Missense_Mutation_p.R215C|TNNT3_uc001luo.4_Missense_Mutation_p.R215C|TNNT3_uc001lup.4_Missense_Mutation_p.R221C|TNNT3_uc001luq.4_Missense_Mutation_p.R215C|TNNT3_uc001lur.3_Missense_Mutation_p.R215C|TNNT3_uc010qxf.2_Missense_Mutation_p.R221C|TNNT3_uc010qxg.2_Missense_Mutation_p.R155C	NM_006757	NP_006748	P45378	TNNT3_HUMAN	Homo sapiens troponin T type 3 (skeletal, fast) (TNNT3), transcript variant 1, mRNA.	234					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding	p.R223C(2)		breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		GAAGCTGAAACGCCAGAAATA	0.612													95	124					0	0	1	0	0	T	1956135	C	T	1956135	3	4	247	1	0	0	0	0	1	0	0	0	16329	536	19	1	758	1	TNNT3	11	1956135	Missense_Mutation	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08		1956135	133050381	39	10827											
OR51T1	401665	broad.mit.edu	37	chr11	4903765	4903765	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctacctgaatggcactgaCgtattgtttattcttttctc	7	18	6	10	1	3	2	0	2	3	0	4	2	3	2	1	1	1	3	1	1	4	8	rs138268565		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr11:4903765C>T	uc010qyp.2	+	0	717	c.717C>T	c.(715-717)gaC>gaT	p.D239D		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D239V(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGCACTGACGTATTGTTTA	0.443													39	49					0	0	1	0	0	T	4903765	C	T	4903765	2	4	247	1	0	0	0	0	0	0	0	1	11106	535	19	1		1	OR51T1	11	4903765	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	2947630	4903765	130102751	40	10828											
ODZ4	26011	broad.mit.edu	37	chr11	78369775	78369775	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgctggcagctggtgatTgtggagccatagagctggtc	6	10	16	9	0	0	2	0	1	0	1	1	3	0	3	2	4	4	4	2	4	1	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr11:78369775T>C	uc001ozl.4	-	33	8101	c.7638A>G	c.(7636-7638)acA>acG	p.T2546T	ODZ4_uc001ozk.4_Silent_p.T771T	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2546					signal transduction	integral to membrane		p.S2545F(2)		breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						AGCTGGTGATTGTGGAGCCAT	0.537													48	53					0	0	1	0	0	C	78369775	T	C	78369775	2	2	247	1	0	0	0	0	0	0	0	1	10837	1799	63	3		3	ODZ4	11	78369775	Silent	SNP	T	TCGA-HT-A5RA-01A-11D-A289-08	73466010	78369775	56636741	41	10829											
SLC6A12	6539	broad.mit.edu	37	chr12	311930	311930	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccaaaagttgttgcaggTcgtccagggcagctcagaag	10	9	13	9	1	1	1	1	0	0	1	4	1	3	1	2	2	2	6	2	2	3	3			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr12:311930T>G	uc001qhz.3	-	5	1130	c.466A>C	c.(466-468)Acc>Ccc	p.T156P	SLC6A12_uc001qia.3_Missense_Mutation_p.T156P|SLC6A12_uc001qib.3_Missense_Mutation_p.T156P|SLC6A12_uc009zdh.2_Missense_Mutation_p.T156P|SLC6A12_uc009zdi.1_Non-coding_Transcript	NM_003044	NP_003035	P48065	S6A12_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12 (SLC6A12), transcript variant 1, mRNA.	156					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			TTGTTGCAGGTCGTCCAGGGC	0.517													34	51					0	0	1	0	0	G	311930	T	G	311930	3	3	247	1	0	0	0	0	1	0	0	0	14675	1667	58	5	1426	5	SLC6A12	12	311930	Missense_Mutation	SNP	T	TCGA-HT-A5RA-01A-11D-A289-08		311930	133539965	42	10830											
KCNH3	23416	broad.mit.edu	37	chr12	49937975	49937975	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtacttcggggcccatctGctgaagacggtgcgcctgct	6	9	13	13	3	1	2	0	1	1	1	2	2	1	2	2	3	4	3	2	3	2	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr12:49937975G>T	uc001ruh.1	+	6	1259	c.999G>T	c.(997-999)ctG>ctT	p.L333L	KCNH3_uc010smj.1_Silent_p.L273L	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	333					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GGGCCCATCTGCTGAAGACGG	0.701													11	16					6.40141e-05	6.47254e-05	1	1	0	T	49937975	G	T	49937975	2	4	247	1	0	0	0	0	0	0	0	1	8033	1306	46	5		5	KCNH3	12	49937975	Silent	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	49626045	49937975	83913920	43	10831											
ACADS	35	broad.mit.edu	37	chr12	121176678	121176678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccggctgctgacctggcGcgctgccatgctgaaggata	6	8	14	13	3	0	2	0	2	0	0	0	3	0	3	3	3	4	4	3	3	2	1			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr12:121176678G>A	uc001tza.4	+	7	1107	c.989G>A	c.(988-990)cGc>cAc	p.R330H	ACADS_uc010szl.1_Missense_Mutation_p.R326H	NM_000017	NP_000008	P16219	ACADS_HUMAN	Homo sapiens acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS), nuclear gene encoding mitochondrial protein, mRNA.	330						mitochondrial matrix	butyryl-CoA dehydrogenase activity	p.R330H(4)|p.R330C(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	CTGACCTGGCGCGCTGCCATG	0.642													55	79					0	0	1	0	0	A	121176678	G	A	121176678	3	1	247	1	0	0	0	0	1	0	0	0	114	1087	38	1	1019	1	ACADS	12	121176678	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	71238703	121176678	12675217	44	10832											
NPAS3	64067	broad.mit.edu	37	chr14	34263138	34263138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgtgtgacaaagtactatCgctggatgcagaagaacgga	14	8	13	6	2	0	3	0	1	0	2	1	5	0	5	0	2	3	3	0	2	5	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr14:34263138C>T	uc001wru.3	+	9	1253	c.1189C>T	c.(1189-1191)Cgc>Tgc	p.R397C	NPAS3_uc001wrs.3_Missense_Mutation_p.R384C|NPAS3_uc001wrv.3_Missense_Mutation_p.R367C|NPAS3_uc001wrt.3_Missense_Mutation_p.R365C	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	397	PAC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AAAGTACTATCGCTGGATGCA	0.373													23	38					0	0	1	0	0	T	34263138	C	T	34263138	3	4	247	1	0	0	0	0	1	0	0	0	10564	884	31	2	1282	2	NPAS3	14	34263138	Missense_Mutation	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08		34263138	73086402	45	10833											
TELO2	9894	broad.mit.edu	37	chr16	1552359	1552359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgggaggcagccctgcGggcccttgagggcctggtct	3	7	18	13	2	1	1	0	1	1	0	1	2	1	2	3	5	2	2	3	5	0	1			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr16:1552359G>A	uc002cly.3	+	12	1898	c.1607G>A	c.(1606-1608)cGg>cAg	p.R536Q		NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae) (TELO2), mRNA.	536						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GCAGCCCTGCGGGCCCTTGAG	0.667													14	12					0	0	1	0	0	A	1552359	G	A	1552359	3	1	247	1	0	0	0	0	1	0	0	0	15754	1116	39	2	1653	2	TELO2	16	1552359	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		1552359	88802394	46	10834											
PRSS27	83886	broad.mit.edu	37	chr16	2762757	2762757	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccctcaccccagctgatcAcccccgcctgcagccacgac	8	4	7	22	2	2	1	2	1	0	0	2	2	2	1	7	0	4	2	7	0	0	0			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr16:2762757A>C	uc002crf.3	-	5	1128	c.737T>G	c.(736-738)gTg>gGg	p.V246G	PRSS27_uc002cre.3_Missense_Mutation_p.V210G|PRSS27_uc002crg.3_Missense_Mutation_p.V144G	NM_031948	NP_114154	Q9BQR3	PRS27_HUMAN	Homo sapiens protease, serine 27 (PRSS27), mRNA.	246	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						CCAGCTGATCACCCCCGCCTG	0.667													6	8					0	0	1	0	0	C	2762757	A	C	2762757	3	2	247	1	0	0	0	0	1	0	0	0	12621	159	6	5	139	5	PRSS27	16	2762757	Missense_Mutation	SNP	A	TCGA-HT-A5RA-01A-11D-A289-08	1210398	2762757	87591996	47	10835											
DNAH2	146754	broad.mit.edu	37	chr17	7637984	7637984	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctgcaccttgccaagtcGtcctacttggcgccctttat	6	13	7	15	2	0	0	0	0	0	0	3	0	2	0	5	1	3	1	5	1	3	5			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr17:7637984G>A	uc002giu.1	+	5	950	c.936G>A	c.(934-936)tcG>tcA	p.S312S	DNAH2_uc002git.3_Silent_p.S312S|DNAH2_uc010vuk.2_Silent_p.S312S	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	312	Stem (By similarity).		S -> T (in dbSNP:rs3744254).		ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S312S(2)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTGCCAAGTCGTCCTACTTGG	0.522													32	53					0	0	1	0	0	A	7637984	G	A	7637984	2	1	247	1	0	0	0	0	0	0	0	1	4602	1132	40	1		1	DNAH2	17	7637984	Silent	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		7637984	73557226	48	10836											
ARHGEF15	22899	broad.mit.edu	37	chr17	8216517	8216517	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcaggatgccaccattttCggggaccccccacagccaga	10	5	11	15	1	0	1	0	0	0	1	1	3	0	3	6	4	2	1	6	4	0	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr17:8216517C>T	uc002glc.3	+	2	1034	c.879C>T	c.(877-879)ttC>ttT	p.F293F	ARHGEF15_uc002glb.2_3'UTR|ARHGEF15_uc002gld.3_Silent_p.F293F|ARHGEF15_uc010vuw.2_Intron	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	293					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCACCATTTTCGGGGACCCCC	0.592													33	55					0	0	1	0	0	T	8216517	C	T	8216517	2	4	247	1	0	0	0	0	0	0	0	1	898	883	31	2		2	ARHGEF15	17	8216517	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	578533	8216517	72978693	49	10837											
MYH10	4628	broad.mit.edu	37	chr17	8379260	8379260	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagaagctgatggggccAccccgcctggagaacacagg	12	3	15	11	1	0	3	0	1	0	2	0	6	0	3	4	4	2	1	4	4	3	0			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr17:8379260A>C	uc002glm.3	-	42	5982	c.5886T>G	c.(5884-5886)ggT>ggG	p.G1962G	MYH10_uc002gll.3_Silent_p.G1931G|MYH10_uc010cnx.3_Silent_p.G1940G	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	1931					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TGATGGGGCCACCCCGCCTGG	0.567													12	60					0	0	1	0	0	C	8379260	A	C	8379260	2	2	247	1	0	0	0	0	0	0	0	1	10030	146	6	5		5	MYH10	17	8379260	Silent	SNP	A	TCGA-HT-A5RA-01A-11D-A289-08	162743	8379260	72815950	50	10838											
SEC11C	90701	broad.mit.edu	37	chr18	56823020	56823020	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggctggaaaagaaggacGtggtgggaagagcaagaggg	14	4	19	4	1	0	3	0	0	0	3	0	6	0	6	0	6	1	2	0	6	5	0	rs115898236	by1000genomes	TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr18:56823020G>A	uc002lht.3	+	3	504	c.448G>A	c.(448-450)Gtg>Atg	p.V150M	SEC11C_uc010xej.1_Missense_Mutation_p.V150M	NM_033280	NP_150596	Q9BY50	SC11C_HUMAN	Homo sapiens SEC11 homolog C (S. cerevisiae) (SEC11C), mRNA.	150					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	serine-type peptidase activity	p.D149D(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9		Colorectal(73;0.175)				AAAGAAGGACGTGGTGGGAAG	0.363													29	48					0	0	1	0	0	A	56823020	G	A	56823020	3	1	247	1	0	0	0	0	1	0	0	0	13979	1145	40	1	462	1	SEC11C	18	56823020	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		56823020	21254228	51	10839											
CD22	933	broad.mit.edu	37	chr19	35831915	35831915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaatggaaaccccatggcGcctgggaggagccatcgctt	10	7	13	11	2	0	1	0	1	0	0	1	4	0	4	4	4	2	1	4	4	2	1			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr19:35831915G>A	uc010edt.3	+	6	1465	c.1381G>A	c.(1381-1383)Gcc>Acc	p.A461T	CD22_uc010edu.3_Missense_Mutation_p.A373T|CD22_uc010edv.3_Missense_Mutation_p.A461T|CD22_uc002nzb.4_Missense_Mutation_p.A284T|CD22_uc010xst.2_Missense_Mutation_p.A289T|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	461	Ig-like C2-type 4.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	ACCCCATGGCGCCTGGGAGGA	0.542													33	96					0	0	1	0	0	A	35831915	G	A	35831915	3	1	247	1	0	0	0	0	1	0	0	0	2985	1087	38	1	1403	1	CD22	19	35831915	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		35831915	23297068	52	10840											
SIPA1L3	23094	broad.mit.edu	37	chr19	38572687	38572687	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggccccggtcccccggcaGggccttcctcccccttcggc	1	7	12	21	3	0	0	0	0	0	0	4	0	3	0	8	5	0	1	8	5	0	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr19:38572687G>A	uc002ohk.3	+	2	991	c.482G>A	c.(481-483)aGg>aAg	p.R161K		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	161					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCCCCCGGCAGGGCCTTCCTC	0.711													71	153					0	0	1	0	0	A	38572687	G	A	38572687	3	1	247	1	0	0	0	0	1	0	0	0	14331	1000	35	3	484	3	SIPA1L3	19	38572687	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	2740772	38572687	20556296	53	10841											
ZNF331	55422	broad.mit.edu	37	chr19	54081063	54081063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctatgggtgtacagaatgtGggaagagctttagtcacggc	10	10	14	7	1	1	2	1	0	0	2	1	3	1	3	1	3	2	2	1	3	5	4			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr19:54081063G>A	uc002qbx.1	+	6	2683	c.1249G>A	c.(1249-1251)Ggg>Agg	p.G417R	ZNF331_uc002qby.1_Missense_Mutation_p.G417R|ZNF331_uc002qbz.1_Missense_Mutation_p.G417R|ZNF331_uc010eqr.1_Missense_Mutation_p.G417R|ZNF331_uc002qca.1_Missense_Mutation_p.G417R|ZNF331_uc021uzg.1_Missense_Mutation_p.G417R|ZNF331_uc021uzh.1_Missense_Mutation_p.G417R|ZNF331_uc002qcb.1_Missense_Mutation_p.G417R|ZNF331_uc002qcc.1_Missense_Mutation_p.G417R|ZNF331_uc002qcd.1_Missense_Mutation_p.G417R	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TACAGAATGTGGGAAGAGCTT	0.473			T	?	follicular thyroid adenoma								17	50					0	0	1	0	0	A	54081063	G	A	54081063	3	1	247	1	0	0	0	0	1	0	0	0	17846	1348	47	3	1259	3	ZNF331	19	54081063	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	15508376	54081063	5047920	54	10842											
LAMA5	3911	broad.mit.edu	37	chr20	60885876	60885876	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatccggttcttctcccagcGcacggagacctgggggcagg	6	7	15	13	3	2	1	0	0	2	1	4	3	3	1	3	5	1	3	3	5	0	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr20:60885876G>T	uc002ycq.3	-	74	10358	c.10291C>A	c.(10291-10293)Cgc>Agc	p.R3431S	LAMA5_uc021wfw.1_Missense_Mutation_p.R3431S	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	3431	Laminin G-like 4.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	p.V3430L(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCTCCCAGCGCACGGAGACC	0.721													3	19					0.115264	0.115264	1	1	0	T	60885876	G	T	60885876	3	4	247	1	0	0	0	0	1	0	0	0	8609	1087	38	5	820	5	LAMA5	20	60885876	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		60885876	2139644	55	10843											
GART	2618	broad.mit.edu	37	chr21	34911630	34911630	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgggctgccattgttctgtCtgtaaagcagaaattccaaa	11	12	9	9	1	2	1	0	0	2	1	4	1	3	1	2	1	2	4	2	1	4	4			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr21:34911630C>T	uc002yrz.3	-	2	304	c.-7_splice	c.e2-1		GART_uc002yrx.3_5'UTR|GART_uc010gmd.3_5'UTR|GART_uc002yry.3_5'UTR|GART_uc002ysa.2_5'UTR	NM_001136005	NP_001129478	P22102	PUR2_HUMAN	Homo sapiens phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase (GART), transcript variant 3, mRNA.						'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	ATTGTTCTGTCTGTAAAGCAG	0.438													38	98					0	0	1	0	0	T	34911630	C	T	34911630	5	4	247	1	0	0	0	0	0	0	1	0	6243	927	32	3		3	GART	21	34911630	Splice_Site	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08		34911630	13218265	56	10844											
ZNF295	49854	broad.mit.edu	37	chr21	43413378	43413378	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacagacaaaacaggtggcCgtggtctcttcaaagccagc	14	6	10	11	1	2	1	1	0	1	1	3	1	2	1	2	3	4	0	2	3	4	1			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr21:43413378C>T	uc021wjo.1	-	0	827	c.827G>A	c.(826-828)cGg>cAg	p.R276Q	ZNF295_uc002yzz.4_Missense_Mutation_p.R276Q|ZNF295_uc002zab.4_Missense_Mutation_p.R276Q|ZNF295_uc002yzy.4_Missense_Mutation_p.R276Q|ZNF295_uc002zaa.4_Missense_Mutation_p.R276Q|ZNF295_uc010gov.1_Missense_Mutation_p.R276Q|ZNF295_uc002zac.2_Missense_Mutation_p.R276Q	NM_020727	NP_065778	Q9ULJ3	ZN295_HUMAN	Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA.	276					negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methyl-CpG binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37						AACAGGTGGCCGTGGTCTCTT	0.428													23	46					0	0	1	0	0	T	43413378	C	T	43413378	3	4	247	1	0	0	0	0	1	0	0	0	17824	652	23	2	2377	2	ZNF295	21	43413378	Missense_Mutation	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	8501748	43413378	4716517	57	10845											
PI4KA	5297	broad.mit.edu	37	chr22	21083938	21083938	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagcagggacagcagcagCgtcctgcgcttcatgtagta	10	7	12	12	2	1	0	1	0	0	0	2	1	2	1	2	1	5	6	2	1	2	3			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr22:21083938C>T	uc002zsz.4	-	37	4557	c.4296G>A	c.(4294-4296)acG>acA	p.T1432T	PI4KA_uc002zsy.4_Silent_p.T242T	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	1432					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			ACAGCAGCAGCGTCCTGCGCT	0.597													4	4					0	0	1	0	0	T	21083938	C	T	21083938	2	4	247	1	0	0	0	0	0	0	0	1	11873	755	27	1		1	PI4KA	22	21083938	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08		21083938	30220628	58	10846											
KDM6A	7403	broad.mit.edu	37	chrX	44949046	44949046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcttgaagatctttatgaaGcaaatgttccagtgtatagg	13	14	9	5	0	2	3	0	2	2	1	3	3	3	3	1	1	1	3	1	1	6	6			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:44949046G>A	uc011mkz.2	+	25	4138	c.3763G>A	c.(3763-3765)Gca>Aca	p.A1255T	KDM6A_uc004dge.4_Missense_Mutation_p.A1203T|KDM6A_uc011mla.2_Missense_Mutation_p.A1158T|KDM6A_uc011mlb.2_Missense_Mutation_p.A1210T|KDM6A_uc011mlc.2_Missense_Mutation_p.A907T|KDM6A_uc022bvj.1_Missense_Mutation_p.A1124T|KDM6A_uc022bvk.1_Non-coding_Transcript|KDM6A_uc011mld.2_Missense_Mutation_p.A842T	NM_021140	NP_066963	O15550	KDM6A_HUMAN	Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.	1203	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.R1255W(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TCTTTATGAAGCAAATGTTCC	0.373			"D, N, F, S"		"renal, oesophageal SCC, MM"								16	33					0	0	1	0	0	A	44949046	G	A	44949046	3	1	247	1	0	0	0	0	1	0	0	0	8137	971	34	3	3705	3	KDM6A	23	44949046	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		44949046	110321514	59	10847											
ZNF41	7592	broad.mit.edu	37	chrX	47307146	47307146	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtgttatgagatttgatcGgtcagtgaaggcctttccac	9	14	11	7	1	1	3	1	3	0	1	3	4	2	3	2	2	0	1	2	2	2	3			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:47307146G>A	uc004dhs.4	-	3	2216	c.2149C>T	c.(2149-2151)Cga>Tga	p.R717*	ZNF41_uc004dhu.4_Nonsense_Mutation_p.R709*|ZNF41_uc004dht.4_Nonsense_Mutation_p.R589*|ZNF41_uc004dhv.4_Nonsense_Mutation_p.R685*|ZNF41_uc004dhw.4_Nonsense_Mutation_p.R677*|ZNF41_uc004dhy.4_Nonsense_Mutation_p.R675*|ZNF41_uc004dhx.4_Nonsense_Mutation_p.R675*|ZNF41_uc011mlm.2_Nonsense_Mutation_p.R589*	NM_153380	NP_700359	P51814	ZNF41_HUMAN	Homo sapiens zinc finger protein 41 (ZNF41), transcript variant 2, mRNA.	717						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				AGATTTGATCGGTCAGTGAAG	0.448													47	55					0	0	1	0	0	A	47307146	G	A	47307146	4	1	247	1	0	0	0	0	0	1	0	0	17886	1124	39	2	320	2	ZNF41	23	47307146	Nonsense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	2358100	47307146	107963414	60	10848											
TGIF2LX	90316	broad.mit.edu	37	chrX	89177102	89177102	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatggaggccgctgcggaCggcccggctgagacccaaag	10	4	15	12	4	0	1	0	1	0	1	0	4	0	3	3	5	1	2	3	5	3	1			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:89177102C>T	uc022bzr.1	+	0	18	c.18C>T	c.(16-18)gaC>gaT	p.D6D	TGIF2LX_uc004efe.3_Silent_p.D6D	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	Homo sapiens TGFB-induced factor homeobox 2-like, X-linked (TGIF2LX), mRNA.	6						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D6D(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CCGCTGCGGACGGCCCGGCTG	0.517													34	47					0	0	1	0	0	T	89177102	C	T	89177102	2	4	247	1	0	0	0	0	0	0	0	1	15824	535	19	1		1	TGIF2LX	23	89177102	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	41869956	89177102	66093458	61	10849											
ZCCHC12	170261	broad.mit.edu	37	chrX	117960229	117960229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgcgtagagccaggaagcGaaaacacacaatccgctgtt	14	6	11	10	3	0	1	0	0	0	1	1	4	1	2	2	1	4	3	2	1	5	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:117960229G>A	uc004equ.3	+	3	1495	c.1022G>A	c.(1021-1023)cGa>cAa	p.R341Q	ZCCHC12_uc022cdh.1_Missense_Mutation_p.R341Q	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	Homo sapiens zinc finger, CCHC domain containing 12 (ZCCHC12), mRNA.	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GCCAGGAAGCGAAAACACACA	0.493													62	90					0	0	1	0	0	A	117960229	G	A	117960229	3	1	247	1	0	0	0	0	1	0	0	0	17578	1058	37	2	1024	2	ZCCHC12	23	117960229	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	28783127	117960229	37310331	62	10850											
MAP7D3	79649	broad.mit.edu	37	chrX	135313709	135313709	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacttgacaaacctttggAgcgtctctcgcttttgcctt	6	14	9	12	2	1	1	0	1	1	0	3	2	1	2	2	2	3	2	2	2	1	5			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:135313709A>G	uc004ezt.3	-	7	1628	c.1407T>C	c.(1405-1407)gcT>gcC	p.A469A	MAP7D3_uc004ezs.3_Silent_p.A434A|MAP7D3_uc011mwc.2_Silent_p.A451A|MAP7D3_uc010nsa.2_Silent_p.A427A	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA.	469						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					AAACCTTTGGAGCGTCTCTCG	0.423													65	91					0	0	1	0	0	G	135313709	A	G	135313709	2	3	247	1	0	0	0	0	0	0	0	1	9269	291	11	4		4	MAP7D3	23	135313709	Silent	SNP	A	TCGA-HT-A5RA-01A-11D-A289-08	17353480	135313709	19956851	63	10851											
MAMLD1	10046	broad.mit.edu	37	chrX	149638772	149638772	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgcccaccagctgaaggcGttggcagccagcaagcaggg	10	3	14	14	2	0	1	0	1	0	0	0	1	0	1	3	3	4	5	3	3	2	1			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:149638772G>A	uc011mxu.2	+	2	1162	c.852G>A	c.(850-852)gcG>gcA	p.A284A	MAMLD1_uc011mxt.1_Silent_p.A271A|MAMLD1_uc004fee.2_Silent_p.A309A|MAMLD1_uc011mxv.2_Silent_p.A284A|MAMLD1_uc011mxw.2_Silent_p.A236A	NM_001177465	NP_001170936	Q13495	MAMD1_HUMAN	Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA.	309					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.A236A(1)|p.A309A(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AGCTGAAGGCGTTGGCAGCCA	0.632													59	78					0	0	1	0	0	A	149638772	G	A	149638772	2	1	247	1	0	0	0	0	0	0	0	1	9208	1132	40	1		1	MAMLD1	23	149638772	Silent	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	14325063	149638772	5631788	64	10852											
BGN	633	broad.mit.edu	37	chrX	152773771	152773771	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacttctgtcccatgggcttCggggtgaagcgggcctacta	6	10	14	11	2	1	1	0	1	1	0	3	2	2	1	2	4	2	1	2	4	3	4			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:152773771C>T	uc004fhr.2	+	7	1211	c.975C>T	c.(973-975)ttC>ttT	p.F325F		NM_001711	NP_001702	P21810	PGS1_HUMAN	Homo sapiens biglycan (BGN), mRNA.	325						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCATGGGCTTCGGGGTGAAGC	0.617													164	164					0	0	1	0	0	T	152773771	C	T	152773771	2	4	247	1	0	0	0	0	0	0	0	1	1418	883	31	2		2	BGN	23	152773771	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	3134999	152773771	2496789	65	10853											
HTRA2	27429	broad.mit.edu	37	chr2	74757185	74757186	+	Frame_Shift_Ins	INS	-	-	G																															ctggagccttcgggcatggcINSgggctttggggggcattcgc																										TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr2:74757185_74757186insG	uc002smi.1	+	0	654_655	c.52_53insG	c.(52-54)cggfs	p.R18fs	AUP1_uc002sme.3_5'Flank|AUP1_uc002smf.3_5'Flank|AUP1_uc002smg.3_5'Flank|AUP1_uc002smh.3_5'Flank|AUP1_uc010yrx.2_5'Flank|AUP1_uc021vjm.1_5'Flank|AUP1_uc010yry.2_5'Flank|HTRA2_uc002smj.1_Frame_Shift_Ins_p.R18fs|HTRA2_uc002smk.1_Frame_Shift_Ins_p.R18fs|HTRA2_uc002sml.1_Frame_Shift_Ins_p.R18fs|HTRA2_uc010ffl.3_5'Flank	NM_013247	NP_037379	O43464	HTRA2_HUMAN	Homo sapiens HtrA serine peptidase 2 (HTRA2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	18					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TCGGGCATGGCGGGCTTTGGGG	0.718													8	144	---	---	---	---						G	74757186	-	G	74757185	7	5	248	1	0	1	1	0	0	0	0	0	7454	759	27	0	54	0	HTRA2	2	74757185	Frame_Shift_Ins	INS	-	TCGA-HT-A5RB-01A-11D-A289-08		74757185	168442188	1	10854											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								21	53					0	0	1	0	0	T	209113112	C	T	209113112	3	4	248	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A5RB-01A-11D-A289-08	134355927	209113112	34086261	2	10855											
STK19	8859	broad.mit.edu	37	chr6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A																															attcagcgacagtggcgggcINSaaacccctcccggggcgggg																										TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr6:31939829_31939830insA	uc003nyv.3	+	0	184_185	c.56_57insA	c.(55-57)gcafs	p.A19fs	DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.3_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.2_Frame_Shift_Ins_p.A19fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.3_Frame_Shift_Ins_p.A19fs|STK19_uc010jtn.1_5'Flank	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	19						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													7	223	---	---	---	---						A	31939830	-	A	31939829	7	5	248	1	0	1	1	0	0	0	0	0	15291	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-HT-A5RB-01A-11D-A289-08		31939829	139175238	3	10856											
LIMK1	3984	broad.mit.edu	37	chr7	73520287	73520287	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaatcaatggcacgcccAtccgaaatgtgcccctggac	11	7	10	13	2	1	0	1	0	0	0	2	3	2	2	4	3	1	1	4	3	3	0			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr7:73520287A>G	uc003uaa.2	+	5	905	c.691A>G	c.(691-693)Atc>Gtc	p.I231V	LIMK1_uc010lbl.2_Non-coding_Transcript|LIMK1_uc003uab.3_Missense_Mutation_p.I197V|LIMK1_uc003uac.1_Missense_Mutation_p.I23V	NM_002314	NP_002305	P53667	LIMK1_HUMAN	Homo sapiens LIM domain kinase 1 (LIMK1), transcript variant 1, mRNA.	231	PDZ.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				TGGCACGCCCATCCGAAATGT	0.607													42	51					0	0	1	0	0	G	73520287	A	G	73520287	3	3	248	1	0	0	0	0	1	0	0	0	8801	217	8	3	713	3	LIMK1	7	73520287	Missense_Mutation	SNP	A	TCGA-HT-A5RB-01A-11D-A289-08		73520287	85618376	4	10857											
TNKS	8658	broad.mit.edu	37	chr8	9588459	9588459	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggccggcattccacgccCttacacttcgcagcaggcta	8	7	11	15	3	0	0	0	0	0	0	2	1	1	0	3	3	2	4	3	3	2	4			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr8:9588459C>T	uc003wss.3	+	13	2066	c.2061C>T	c.(2059-2061)ccC>ccT	p.P687P	TNKS_uc011kww.2_Silent_p.P450P|TNKS_uc010lrs.1_Non-coding_Transcript	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	687					Wnt receptor signaling pathway|mRNA transport|mitotic spindle organization|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport	Golgi membrane|chromosome, centromeric region|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		ATTCCACGCCCTTACACTTCG	0.498													31	53					0	0	1	0	0	T	9588459	C	T	9588459	2	4	248	1	0	0	0	0	0	0	0	1	16316	668	24	3		3	TNKS	8	9588459	Silent	SNP	C	TCGA-HT-A5RB-01A-11D-A289-08		9588459	136775563	5	10858											
PDGFRL	5157	broad.mit.edu	37	chr8	17447012	17447012	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcccaagaacaagcgtccaAaagaaccaggagagaataga	19	4	9	9	1	0	4	0	0	0	4	2	6	2	5	3	1	3	0	3	1	8	2			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr8:17447012A>G	uc003wxr.3	+	2	536	c.91A>G	c.(91-93)Aaa>Gaa	p.K31E		NM_006207	NP_006198	Q15198	PGFRL_HUMAN	Homo sapiens platelet-derived growth factor receptor-like (PDGFRL), mRNA.	31						extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity	p.K31K(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		CAAGCGTCCAAAAGAACCAGG	0.428													101	138					0	0	1	0	0	G	17447012	A	G	17447012	3	3	248	1	0	0	0	0	1	0	0	0	11663	15	1	3	97	3	PDGFRL	8	17447012	Missense_Mutation	SNP	A	TCGA-HT-A5RB-01A-11D-A289-08	7858553	17447012	128917010	6	10859											
ACER2	340485	broad.mit.edu	37	chr9	19435024	19435024	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagcctgccatcaacaacAtctctctgatgaccctggga	11	9	7	14	0	4	2	2	2	2	0	5	3	4	3	3	1	4	0	3	1	3	0			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr9:19435024A>G	uc003zny.1	+	3	603	c.445A>G	c.(445-447)Atc>Gtc	p.I149V	ACER2_uc003znx.1_Non-coding_Transcript|ACER2_uc003znz.1_Missense_Mutation_p.I100V	NM_001010887	NP_001010887	Q5QJU3	ACER2_HUMAN	Homo sapiens alkaline ceramidase 2 (ACER2), mRNA.	149					ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						CATCAACAACATCTCTCTGAT	0.537													16	107					0	0	1	0	0	G	19435024	A	G	19435024	3	3	248	1	0	0	0	0	1	0	0	0	139	217	8	3	459	3	ACER2	9	19435024	Missense_Mutation	SNP	A	TCGA-HT-A5RB-01A-11D-A289-08		19435024	121778407	7	10860											
KCNT1	57582	broad.mit.edu	37	chr9	138676392	138676392	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggccagtccttcgtgaaGgactacatgatcaccatcac	10	9	8	14	1	2	2	2	2	0	0	4	3	3	3	4	2	1	0	4	2	2	2			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr9:138676392G>A	uc011mdq.2	+	25	3029	c.2955G>A	c.(2953-2955)aaG>aaA	p.K985K	KCNT1_uc011mdr.2_Silent_p.K812K|KCNT1_uc010nbf.3_Silent_p.K940K|KCNT1_uc004cgo.1_Silent_p.K734K	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	985						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCTTCGTGAAGGACTACATGA	0.697													10	6					0	0	1	0	0	A	138676392	G	A	138676392	2	1	248	1	0	0	0	0	0	0	0	1	8091	991	35	3		3	KCNT1	9	138676392	Silent	SNP	G	TCGA-HT-A5RB-01A-11D-A289-08	119241368	138676392	2537039	8	10861											
LRIT1	26103	broad.mit.edu	37	chr10	86001154	86001154	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgggcctgggggggccaCgcaagggccaagagccagag	8	1	18	14	2	0	2	0	0	0	2	0	2	0	2	6	5	1	1	6	5	2	0			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr10:86001154C>T	uc001kcz.1	-	0	64	c.42G>A	c.(40-42)gcG>gcA	p.A14A		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA.	14						integral to endoplasmic reticulum membrane		p.A14A(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GGGGGGGCCACGCAAGGGCCA	0.672													16	22					0	0	1	0	0	T	86001154	C	T	86001154	2	4	248	1	0	0	0	0	0	0	0	1	8947	523	19	1		1	LRIT1	10	86001154	Silent	SNP	C	TCGA-HT-A5RB-01A-11D-A289-08		86001154	49533593	9	10862											
NAT10	55226	broad.mit.edu	37	chr11	34139764	34139764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcttgtaagaagtgtctcGtcattgatgaccagctcaac	10	12	8	11	1	4	3	2	2	2	1	5	3	4	3	2	0	2	2	2	0	3	3			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr11:34139764G>A	uc001mvk.3	+	6	839	c.595G>A	c.(595-597)Gtc>Atc	p.V199I	NAT10_uc010ren.2_Missense_Mutation_p.V127I	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	Homo sapiens N-acetyltransferase 10 (GCN5-related) (NAT10), transcript variant 1, mRNA.	199						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GAAGTGTCTCGTCATTGATGA	0.532													43	49					0	0	1	0	0	A	34139764	G	A	34139764	3	1	248	1	0	0	0	0	1	0	0	0	10174	1145	40	1	617	1	NAT10	11	34139764	Missense_Mutation	SNP	G	TCGA-HT-A5RB-01A-11D-A289-08		34139764	100866752	10	10863											
OR5M8	219484	broad.mit.edu	37	chr11	56258374	56258374	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgtaggtccacatggtcTccatcaggccagtgagcgct	7	10	13	11	1	2	1	1	1	1	0	4	1	3	1	3	4	1	3	3	4	1	2	rs142719978		TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr11:56258374T>C	uc001nix.1	-	0	473	c.473A>G	c.(472-474)gAg>gGg	p.E158G	OR8U8_uc001nit.2_Intron	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CCACATGGTCTCCATCAGGCC	0.512													48	75					0	0	1	0	0	C	56258374	T	C	56258374	3	2	248	1	0	0	0	0	1	0	0	0	11176	1551	54	4	466	4	OR5M8	11	56258374	Missense_Mutation	SNP	T	TCGA-HT-A5RB-01A-11D-A289-08	22118610	56258374	78748142	11	10864											
OR11H6	122748	broad.mit.edu	37	chr14	20692401	20692401	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctctgctatccagtccctaTtgttcttatctcccaacttc	6	17	3	15	0	3	0	0	0	3	0	8	0	5	0	3	0	2	2	3	0	4	6			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr14:20692401T>C	uc010tlc.2	+	0	533	c.533T>C	c.(532-534)aTt>aCt	p.I178T		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		CCAGTCCCTATTGTTCTTATC	0.502													21	19					0	0	1	0	0	C	20692401	T	C	20692401	3	2	248	1	0	0	0	0	1	0	0	0	10929	1493	52	3	535	3	OR11H6	14	20692401	Missense_Mutation	SNP	T	TCGA-HT-A5RB-01A-11D-A289-08		20692401	86657139	12	10865											
NIPA1	123606	broad.mit.edu	37	chr15	23086365	23086367	+	In_Frame_Del	DEL	GCC	GCC	-																															ggctacgcgccccctccccgGccgccgccgccgccgccgcc																										TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr15:23086365_23086367delGCC	uc001yvc.3	-	0	70_72	c.45_47delGGC	c.(43-48)gcggcc>gcc	p.15_16AA>A	NIPA1_uc001yvd.3_5'UTR|NIPA1_uc001yve.3_Intron	NM_144599	NP_001135747	Q7RTP0	NIPA1_HUMAN	Homo sapiens non imprinted in Prader-Willi/Angelman syndrome 1 (NIPA1), transcript variant 1, mRNA.	15					cell death	early endosome|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		CCCCTCCCCGgccgccgccgccg	0.818													2	4	---	---	---	---						-	23086367	GCC	-	23086365	7	5	248	1	0	1	0	1	0	0	0	0	10422	1203	42	0	962	0	NIPA1	15	23086365	In_Frame_Del	DEL	GCC	TCGA-HT-A5RB-01A-11D-A289-08		23086365	79445027	13	10866											
TMC3	342125	broad.mit.edu	37	chr15	81641895	81641895	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatcatggtgacgagggagAccaccacactgacctgctga	11	7	11	12	1	1	4	1	3	0	1	1	6	1	4	3	2	1	1	3	2	1	1			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr15:81641895A>G	uc021ssk.1	-	10	1097	c.1097T>C	c.(1096-1098)gTc>gCc	p.V366A	TMC3_uc021ssj.1_Missense_Mutation_p.V366A|TMC3_uc010blr.1_Non-coding_Transcript|TMC3_uc002bgp.3_Missense_Mutation_p.V366A	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	366						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GACGAGGGAGACCACCACACT	0.552													8	14					0	0	1	0	0	G	81641895	A	G	81641895	3	3	248	1	0	0	0	0	1	0	0	0	15983	275	10	3	2253	3	TMC3	15	81641895	Missense_Mutation	SNP	A	TCGA-HT-A5RB-01A-11D-A289-08	58555530	81641895	20889497	14	10867											
TP53	7157	broad.mit.edu	37	chr17	7578235	7578235	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtgtttctgtcatccaaaTactccacacgcaaatttcct	12	13	4	12	1	2	0	1	0	1	0	5	0	5	0	3	0	1	2	3	0	4	3			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr17:7578235T>G	uc002gim.2	-	5	808	c.614A>C	c.(613-615)tAt>tCt	p.Y205S	TP53_uc002gig.1_Missense_Mutation_p.Y205S|TP53_uc002gih.3_Missense_Mutation_p.Y205S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y73S|TP53_uc010cnf.1_Missense_Mutation_p.Y73S|TP53_uc002gii.1_Missense_Mutation_p.Y73S|TP53_uc010cni.1_Missense_Mutation_p.Y205S|TP53_uc010cnh.1_Missense_Mutation_p.Y205S|TP53_uc002gij.2_Missense_Mutation_p.Y205S|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y112S|TP53_uc002gio.2_Missense_Mutation_p.Y73S|TP53_uc010vug.2_Missense_Mutation_p.Y166S|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	205	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y205C(127)|p.E204*(27)|p.Y205S(26)|p.Y205F(16)|p.Y205D(14)|p.Y205H(8)|p.0?(8)|p.Y73C(5)|p.?(5)|p.Y112C(5)|p.Y205N(4)|p.Y205*(4)|p.E204fs*5(3)|p.E204fs*43(3)|p.E204fs*39(2)|p.E204_N210delEYLDDRN(2)|p.E204K(2)|p.E204G(2)|p.E204D(2)|p.E204E(2)|p.K164_P219del(1)|p.Y205fs*42(1)|p.E204fs*4(1)|p.Y73S(1)|p.V203_E204>V*(1)|p.Y112S(1)|p.Y205fs*43(1)|p.V203_E204>LV(1)|p.E204A(1)|p.E204V(1)|p.E204Q(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)		GTCATCCAAATACTCCACACG	0.542		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)			57	9					0	0	1	0	0	G	7578235	T	G	7578235	3	3	248	1	0	0	0	0	1	0	0	0	16378	1406	49	5	680	5	TP53	17	7578235	Missense_Mutation	SNP	T	TCGA-HT-A5RB-01A-11D-A289-08		7578235	73616975	15	10868											
DSG2	1829	broad.mit.edu	37	chr18	29121270	29121270	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgaaggagcaccacctgAagacaaggtcagtggatcag	15	6	12	8	0	2	3	2	2	0	1	2	5	2	5	2	3	1	1	2	3	4	1			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr18:29121270A>G	uc002kwu.4	+	12	2182	c.1994A>G	c.(1993-1995)gAa>gGa	p.E665G		NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	665					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GCACCACCTGAAGACAAGGTC	0.473													9	39					0	0	1	0	0	G	29121270	A	G	29121270	3	3	248	1	0	0	0	0	1	0	0	0	4777	246	9	3	2044	3	DSG2	18	29121270	Missense_Mutation	SNP	A	TCGA-HT-A5RB-01A-11D-A289-08		29121270	48955978	16	10869											
MUC16	94025	broad.mit.edu	37	chr19	9088746	9088746	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccattcgtggtctctgtTgtgaggatggttgttgatgg	4	15	17	5	1	1	2	0	2	1	0	3	3	1	3	1	5	0	3	1	5	0	4			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr19:9088746T>C	uc002mkp.3	-	0	3273	c.3069A>G	c.(3067-3069)acA>acG	p.T1023T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1023	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTCTCTGTTGTGAGGATGG	0.468													81	122					0	0	1	0	0	C	9088746	T	C	9088746	2	2	248	1	0	0	0	0	0	0	0	1	9973	1799	63	3		3	MUC16	19	9088746	Silent	SNP	T	TCGA-HT-A5RB-01A-11D-A289-08		9088746	50040237	17	10870											
MAP3K10	4294	broad.mit.edu	37	chr19	40719044	40719044	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccccaacctgggcaagTcccccaaacacacacccatc	11	4	6	20	0	0	0	0	0	0	0	2	0	1	0	6	1	3	1	6	1	3	0			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr19:40719044T>C	uc002ona.3	+	7	2074	c.1786T>C	c.(1786-1788)Tcc>Ccc	p.S596P		NM_002446	NP_002437	Q02779	M3K10_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA.	596					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|JUN kinase kinase kinase activity|bHLH transcription factor binding|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CCTGGGCAAGTCCCCCAAACA	0.612													7	9					0	0	1	0	0	C	40719044	T	C	40719044	3	2	248	1	0	0	0	0	1	0	0	0	9244	1667	58	3	1816	3	MAP3K10	19	40719044	Missense_Mutation	SNP	T	TCGA-HT-A5RB-01A-11D-A289-08	31630298	40719044	18409939	18	10871											
ZNF616	90317	broad.mit.edu	37	chr19	52618795	52618795	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttctctccagtatgaattCtccgatgccttgcaaaagct	9	13	7	12	1	2	1	0	1	2	0	5	2	3	1	3	0	3	4	3	0	4	4			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr19:52618795C>G	uc002pym.3	-	3	1905	c.1622G>C	c.(1621-1623)aGa>aCa	p.R541T	ZNF616_uc002pyn.3_Non-coding_Transcript	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	Homo sapiens zinc finger protein 616 (ZNF616), mRNA.	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		AGTATGAATTCTCCGATGCCT	0.443													35	61					0	0	1	0	0	G	52618795	C	G	52618795	3	3	248	1	0	0	0	0	1	0	0	0	18038	913	32	5	727	5	ZNF616	19	52618795	Missense_Mutation	SNP	C	TCGA-HT-A5RB-01A-11D-A289-08	11899751	52618795	6510188	19	10872											
FAM3B	54097	broad.mit.edu	37	chr21	42710402	42710402	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaggtggcagaagcaagtaCgccaaaatctgctttgagga	13	7	14	7	1	1	2	0	1	1	1	1	4	1	4	1	4	3	4	1	4	5	2			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr21:42710402C>T	uc002yzb.1	+	2	407	c.261C>T	c.(259-261)taC>taT	p.Y87Y	FAM3B_uc002yza.2_Non-coding_Transcript|FAM3B_uc002yzc.1_Silent_p.Y39Y|FAM3B_uc011aeq.2_Silent_p.Y101Y	NM_058186	NP_478066	P58499	FAM3B_HUMAN	Homo sapiens family with sequence similarity 3, member B (FAM3B), transcript variant 1, mRNA.	87					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				GAAGCAAGTACGCCAAAATCT	0.502													38	56					0	0	1	0	0	T	42710402	C	T	42710402	2	4	248	1	0	0	0	0	0	0	0	1	5557	547	19	1		1	FAM3B	21	42710402	Silent	SNP	C	TCGA-HT-A5RB-01A-11D-A289-08		42710402	5419493	20	10873											
CSF2RA	1438	broad.mit.edu	37	chrX	1413343	1413343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttcagtaccagctggacGtccacagaaaggtcggtgag	11	8	12	10	2	1	2	1	1	0	1	3	3	2	3	2	3	2	2	2	3	2	2			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chrX:1413343G>A	uc010nct.2	+	8	1091	c.769G>A	c.(769-771)Gtc>Atc	p.V257I	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.V257I|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Missense_Mutation_p.V257I|CSF2RA_uc004cpo.2_Missense_Mutation_p.V257I|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Missense_Mutation_p.V124I|CSF2RA_uc004cpp.2_Missense_Mutation_p.V257I|CSF2RA_uc010ncv.2_Missense_Mutation_p.V257I|CSF2RA_uc004cpr.2_Missense_Mutation_p.V257I	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	257						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CCAGCTGGACGTCCACAGAAA	0.632													43	71					0	0	1	0	0	A	1413343	G	A	1413343	3	1	248	1	0	0	0	0	1	0	0	0	3934	1145	40	1	791	1	CSF2RA	23	1413343	Missense_Mutation	SNP	G	TCGA-HT-A5RB-01A-11D-A289-08		1413343	153857217	21	10874											
ATRX	546	broad.mit.edu	37	chrX	76814303	76814306	+	Frame_Shift_Del	DEL	ATAA	ATAA	-																															atcctgctttagtagaaatgAtaaataatcgtcctctgaaa																										TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chrX:76814303_76814306delATAA	uc004ecp.4	-	28	6570_6573	c.6338_6341delTTAT	c.(6337-6342)tttatcfs	p.F2113fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.F2075fs|ATRX_uc004eco.4_Frame_Shift_Del_p.F1898fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2113	Helicase C-terminal.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.F2113fs*9(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AGTAGAAATGATAAATAATCGTCC	0.289			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						29	3	---	---	---	---						-	76814306	ATAA	-	76814303	7	5	248	1	0	1	0	1	0	0	0	0	1208	333	12	0	1165	0	ATRX	23	76814303	Frame_Shift_Del	DEL	ATAA	TCGA-HT-A5RB-01A-11D-A289-08	75400960	76814303	78456257	22	10875											
PRAMEF1	65121	broad.mit.edu	37	chr1	12856042	12856042	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgagctgatgtgtacacTgagggaagtcaggcagccca	10	7	15	9	0	1	3	1	3	0	0	1	4	1	4	1	3	3	4	1	3	2	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:12856042T>A	uc001auj.2	+	3	1425	c.1322T>A	c.(1321-1323)cTg>cAg	p.L441Q		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	441										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|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;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATGTGTACACTGAGGGAAGTC	0.562													46	289					0	0	1	0	0	A	12856042	T	A	12856042	3	1	249	1	0	0	0	0	1	0	0	0	12425	1580	55	5	1332	5	PRAMEF1	1	12856042	Missense_Mutation	SNP	T	TCGA-HT-A5RC-01A-11D-A289-08		12856042	236394579	1	10876											
CSMD2	114784	broad.mit.edu	37	chr1	34258115	34258115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatcaaactcctcaaaggCgagcttgatcacctagggag	14	7	9	11	1	3	1	3	1	0	0	4	3	4	2	2	2	2	1	2	2	4	2			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:34258115C>T	uc001bxm.1	-	10	1636	c.1459G>A	c.(1459-1461)Gcc>Acc	p.A487T	CSMD2_uc001bxn.1_Missense_Mutation_p.A447T	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	447	CUB 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCTCAAAGGCGAGCTTGATC	0.532													5	71					0	0	1	0	0	T	34258115	C	T	34258115	3	4	249	1	0	0	0	0	1	0	0	0	3945	768	27	1	9360	1	CSMD2	1	34258115	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	21402073	34258115	214992506	2	10877											
CCDC30	728621	broad.mit.edu	37	chr1	43110444	43110444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagattggcttcttagagcGaattataaggagcatccata	13	11	10	7	1	1	2	0	0	1	2	2	4	2	3	1	2	2	3	1	2	5	6			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:43110444G>A	uc009vwk.1	+	12	1966	c.1856G>A	c.(1855-1857)cGa>cAa	p.R619Q	CCDC30_uc001chm.2_Missense_Mutation_p.R317Q|CCDC30_uc001chn.2_Missense_Mutation_p.R408Q	NM_001080850	NP_001074319	Q5VVM6	CCD30_HUMAN	Homo sapiens coiled-coil domain containing 30 (CCDC30), mRNA.	619								p.R619*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TTCTTAGAGCGAATTATAAGG	0.428													22	47					0	0	1	0	0	A	43110444	G	A	43110444	3	1	249	1	0	0	0	0	1	0	0	0	2805	1058	37	2	1902	2	CCDC30	1	43110444	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	8852329	43110444	206140177	3	10878											
GPBP1L1	60313	broad.mit.edu	37	chr1	46120391	46120391	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcatgccatcatgacctcGggaagagctatgccaaccag	11	7	10	13	1	2	2	2	1	0	1	3	3	2	3	4	1	4	2	4	1	3	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:46120391G>A	uc001coq.3	-	5	1662	c.301C>T	c.(301-303)Cga>Tga	p.R101*		NM_021639	NP_067652	Q9HC44	GPBL1_HUMAN	Homo sapiens GC-rich promoter binding protein 1-like 1 (GPBP1L1), mRNA.	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R101L(1)	GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					TCATGACCTCGGGAAGAGCTA	0.557													26	34					0	0	1	0	0	A	46120391	G	A	46120391	4	1	249	1	0	0	0	0	0	1	0	0	6596	1124	39	2	1155	2	GPBP1L1	1	46120391	Nonsense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	3009947	46120391	203130230	4	10879											
C1orf173	127254	broad.mit.edu	37	chr1	75038487	75038487	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaagaattgcctcttcagaAccgtcctctctctttgatgc	8	13	6	14	1	4	3	1	1	3	2	6	3	5	3	4	0	3	0	4	0	3	3			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:75038487A>C	uc001dgg.3	-	13	3126	c.2907T>G	c.(2905-2907)ggT>ggG	p.G969G		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	969	Glu-rich.							p.D968D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTCTTCAGAACCGTCCTCTC	0.522													44	76					0	0	1	0	0	C	75038487	A	C	75038487	2	2	249	1	0	0	0	0	0	0	0	1	2014	30	2	5		5	C1orf173	1	75038487	Silent	SNP	A	TCGA-HT-A5RC-01A-11D-A289-08	28918096	75038487	174212134	5	10880											
ELTD1	64123	broad.mit.edu	37	chr1	79470885	79470885	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttgagtataggaacaattCaacaaagtggaaaaaaccac	19	9	7	6	0	1	1	1	1	0	0	1	3	1	3	1	2	3	1	1	2	9	5			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:79470885C>T	uc001diq.4	-	1	198	c.42G>A	c.(40-42)ttG>ttA	p.L14L		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	14					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AGGAACAATTCAACAAAGTGG	0.333													9	23					0	0	1	0	0	T	79470885	C	T	79470885	2	4	249	1	0	0	0	0	0	0	0	1	5084	825	29	3		3	ELTD1	1	79470885	Silent	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	4432398	79470885	169779736	6	10881											
OTUD7B	56957	broad.mit.edu	37	chr1	149916850	149916850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccttccgccggccgccctCgttgctggtggaactgctgc	2	10	12	17	4	0	0	0	0	0	0	3	1	2	1	5	3	4	3	5	3	1	2			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:149916850C>T	uc001etn.3	-	11	1794	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K		NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	Homo sapiens OTU domain containing 7B (OTUD7B), mRNA.	480					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|cysteine-type peptidase activity|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CGGCCGCCCTCGTTGCTGGTG	0.582													8	156					0	0	1	0	0	T	149916850	C	T	149916850	3	4	249	1	0	0	0	0	1	0	0	0	11319	893	31	2	1097	2	OTUD7B	1	149916850	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	70445965	149916850	99333771	7	10882											
FLG	2312	broad.mit.edu	37	chr1	152282387	152282387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtccaccagaggaagtctCtgcatgacgagtgcctgatt	9	10	11	11	1	1	3	0	2	1	1	3	5	2	4	3	1	2	1	3	1	1	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:152282387C>T	uc001ezu.1	-	2	5011	c.4975G>A	c.(4975-4977)Gag>Aag	p.E1659K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1659	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGAAGTCTCTGCATGACGA	0.562									Ichthyosis				167	315					0	0	1	0	0	T	152282387	C	T	152282387	3	4	249	1	0	0	0	0	1	0	0	0	5922	922	32	3	7214	3	FLG	1	152282387	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	2365537	152282387	96968234	8	10883											
HADHA	3030	broad.mit.edu	37	chr2	26457128	26457128	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atccattgatggcagccacaAtaggctttgtggacttttca	10	13	9	9	0	1	1	1	1	0	0	2	2	2	2	2	3	1	2	2	3	2	5			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr2:26457128A>G	uc002rgy.3	-	4	540	c.410T>C	c.(409-411)aTt>aCt	p.I137T	HADHA_uc010yks.2_Missense_Mutation_p.I50T|HADHA_uc010ykt.1_Missense_Mutation_p.I50T	NM_000182	NP_000173	P40939	ECHA_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit (HADHA), nuclear gene encoding mitochondrial protein, mRNA.	137					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	GGCAGCCACAATAGGCTTTGT	0.443													21	42					0	0	1	0	0	G	26457128	A	G	26457128	3	3	249	1	0	0	0	0	1	0	0	0	6943	101	4	3	1945	3	HADHA	2	26457128	Missense_Mutation	SNP	A	TCGA-HT-A5RC-01A-11D-A289-08		26457128	216742245	9	10884											
NAT8B	51471	broad.mit.edu	37	chr2	73927953	73927953	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgggcaaactggaggacAgtcctgaccagggcttttgc	8	8	13	12	1	0	1	0	1	0	0	2	3	2	3	3	4	2	2	3	4	1	2			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr2:73927953A>C	uc002sjk.1	-	1	512	c.477T>G	c.(475-477)acT>acG	p.T159T		NM_016347	NP_057431	Q9UHF3	NAT8B_HUMAN	Homo sapiens N-acetyltransferase 8B (GCN5-related, putative, gene/pseudogene) (NAT8B), mRNA.	160	N-acetyltransferase.				gastrulation with mouth forming second	integral to membrane	N-acetyltransferase activity										ACTGGAGGACAGTCCTGACCA	0.557													23	45					0	0	1	0	0	C	73927953	A	C	73927953	2	2	249	1	0	0	0	0	0	0	0	1	10180	175	7	5		5	NAT8B	2	73927953	Silent	SNP	A	TCGA-HT-A5RC-01A-11D-A289-08	47470825	73927953	169271420	10	10885											
MYEOV2	150678	broad.mit.edu	37	chr2	241073371	241073371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttaaaaaagtctgcatgaaCggccttttcattggctgcca	11	12	9	9	1	2	1	1	1	1	0	2	1	2	1	2	2	3	3	2	2	4	4			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr2:241073371C>T	uc002vyu.1	-	1	208	c.208G>A	c.(208-210)Gtt>Att	p.V70I	MYEOV2_uc010zof.1_Missense_Mutation_p.V39I	NM_138336	NP_612209	Q8WXC6	MYOV2_HUMAN	Homo sapiens myeloma overexpressed 2 (MYEOV2), transcript variant 1, mRNA.	39								p.V70F(2)		breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TCTGCATGAACGGCCTTTTCA	0.483													33	84					0	0	1	0	0	T	241073371	C	T	241073371	3	4	249	1	0	0	0	0	1	0	0	0	10026	536	19	1	570	1	MYEOV2	2	241073371	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	167145418	241073371	2126002	11	10886											
LMCD1	29995	broad.mit.edu	37	chr3	8590552	8590552	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaccactgctgctaccaccaAcggcagtctcagtgacccgt	9	7	9	16	2	1	1	1	1	1	0	2	2	1	1	4	1	4	3	4	1	2	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:8590552A>G	uc003bqq.3	+	3	800	c.686A>G	c.(685-687)aAc>aGc	p.N229S	LMCD1_uc011atd.2_Missense_Mutation_p.N156S|LMCD1_uc011ate.2_Missense_Mutation_p.N117S|LMCD1_uc011atf.1_Missense_Mutation_p.N156S	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	Homo sapiens LIM and cysteine-rich domains 1 (LMCD1), mRNA.	229					positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		GCTACCACCAACGGCAGTCTC	0.612													16	30					0	0	1	0	0	G	8590552	A	G	8590552	3	3	249	1	0	0	0	0	1	0	0	0	8844	43	2	3	700	3	LMCD1	3	8590552	Missense_Mutation	SNP	A	TCGA-HT-A5RC-01A-11D-A289-08		8590552	189431878	12	10887											
SCN5A	6331	broad.mit.edu	37	chr3	38674720	38674720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcttgcttctctgccatgcGcttctcgatggctgccaggg	3	12	13	13	2	2	0	0	0	2	0	4	1	2	0	2	3	4	4	2	3	0	3			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:38674720G>A	uc021wvo.1	-	0	131	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	SCN5A_uc021wvk.1_Missense_Mutation_p.R27C|SCN5A_uc021wvl.1_Missense_Mutation_p.R27C|SCN5A_uc021wvm.1_Missense_Mutation_p.R27C|SCN5A_uc021wvn.1_Missense_Mutation_p.R27C|SCN5A_uc021wvp.1_Missense_Mutation_p.R27C|SCN5A_uc021wvq.1_Missense_Mutation_p.R27C|SCN5A_uc021wvr.1_Missense_Mutation_p.R27C|SCN5A_uc021wvs.1_Missense_Mutation_p.R27C|SCN5A_uc021wvt.1_Missense_Mutation_p.R27C|SCN5A_uc021wvu.1_Missense_Mutation_p.R27C|SCN5A_uc021wvv.1_Missense_Mutation_p.R27C|SCN5A_uc021wvx.1_Silent_p.S29S	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	27			R -> H (in BRS1).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCTGCCATGCGCTTCTCGATG	0.647													19	45					0	0	1	0	0	A	38674720	G	A	38674720	3	1	249	1	0	0	0	0	1	0	0	0	13922	1087	38	1	6175	1	SCN5A	3	38674720	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	30084168	38674720	159347710	13	10888											
COL7A1	1294	broad.mit.edu	37	chr3	48629342	48629342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcactgaccagtctcacgcCgccattccaaccggtagcca	9	6	8	18	4	1	1	1	1	1	0	3	1	2	1	6	1	2	2	6	1	2	2			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:48629342C>T	uc003ctz.2	-	9	1347	c.1346G>A	c.(1345-1347)cGg>cAg	p.R449Q		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	449	Fibronectin type-III 3.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.W448R(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGTCTCACGCCGCCATTCCAA	0.632													99	77					0	0	1	0	0	T	48629342	C	T	48629342	3	4	249	1	0	0	0	0	1	0	0	0	3704	652	23	2	7924	2	COL7A1	3	48629342	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	9954622	48629342	149393088	14	10889											
ITIH1	3697	broad.mit.edu	37	chr3	52824844	52824844	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgaggttgttttgcacCgagtgtggaaggggagctcg	6	12	16	7	2	0	1	0	1	0	0	1	4	0	3	2	4	2	4	2	4	1	4			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:52824844C>T	uc003dfs.3	+	19	2431	c.2401C>T	c.(2401-2403)Cga>Tga	p.R801*	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Nonsense_Mutation_p.R659*|ITIH1_uc021wzg.1_Nonsense_Mutation_p.R513*|ITIH1_uc021wzh.1_Nonsense_Mutation_p.R513*|ITIH1_uc003dft.3_Nonsense_Mutation_p.R402*	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	801	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TGTTTTGCACCGAGTGTGGAA	0.612													7	224					0	0	1	0	0	T	52824844	C	T	52824844	4	4	249	1	0	0	0	0	0	1	0	0	7903	644	23	2	2479	2	ITIH1	3	52824844	Nonsense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	4195502	52824844	145197586	15	10890											
STXBP5L	9515	broad.mit.edu	37	chr3	121097685	121097685	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaagaccaccatttcgaaagGcccagtcagcagcctgcatg	12	6	10	13	1	1	1	1	0	0	1	2	3	1	1	4	1	3	2	4	1	2	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:121097685G>T	uc003eec.4	+	21	2511	c.2371G>T	c.(2371-2373)Gcc>Tcc	p.A791S	STXBP5L_uc011bji.2_Missense_Mutation_p.A767S	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	791					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ATTTCGAAAGGCCCAGTCAGC	0.388													15	29					4.7546e-09	4.81189e-09	1	1	0	T	121097685	G	T	121097685	3	4	249	1	0	0	0	0	1	0	0	0	15356	1203	42	5	2453	5	STXBP5L	3	121097685	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	68272841	121097685	76924745	16	10891											
MFI2	4241	broad.mit.edu	37	chr3	196730813	196730813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacatcccttccagcgccGccacgtagtccagccccagc	8	5	8	20	4	0	0	0	0	0	0	3	1	3	0	7	0	3	1	7	0	1	2	rs143354088		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:196730813G>A	uc003fxk.4	-	14	2210	c.2096C>T	c.(2095-2097)gCg>gTg	p.A699V	MFI2-AS1_uc003fxj.1_Non-coding_Transcript	NM_005929	NP_005920	P08582	TRFM_HUMAN	Homo sapiens antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 (MFI2), transcript variant 1, mRNA.	699	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		TTCCAGCGCCGCCACGTAGTC	0.647													94	178					0	0	1	0	0	A	196730813	G	A	196730813	3	1	249	1	0	0	0	0	1	0	0	0	9522	1087	38	1	128	1	MFI2	3	196730813	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	75633128	196730813	1291617	17	10892											
UGT2B7	7364	broad.mit.edu	37	chr4	69972927	69972927	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgatgggaataaaccagataCcttaggtctcaatactcggc	13	10	9	9	1	1	2	1	1	1	1	3	3	1	3	2	3	3	0	2	3	7	4			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr4:69972927C>A	uc003heg.4	+	3	1083	c.1037C>A	c.(1036-1038)aCc>aAc	p.T346N	UGT2B7_uc010ihq.3_Missense_Mutation_p.T346N	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	346					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.D345D(1)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AAACCAGATACCTTAGGTCTC	0.358													29	91					9.80977e-26	1.03003e-25	1	1	0	A	69972927	C	A	69972927	3	1	249	1	0	0	0	0	1	0	0	0	16959	507	18	5	1051	5	UGT2B7	4	69972927	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08		69972927	121181349	18	10893											
PRDM9	56979	broad.mit.edu	37	chr5	23509638	23509638	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggaagaatgggcagagatGggagactgggagaaaactcg	16	4	17	4	1	0	4	0	0	0	4	1	8	0	5	0	4	1	1	0	4	5	0			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr5:23509638G>T	uc003jgo.3	+	2	311	c.129G>T	c.(127-129)atG>atT	p.M43I		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	43	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGCAGAGATGGGAGACTGGG	0.433										HNSCC(3;0.000094)			6	165					5.9392e-07	5.9392e-07	1	1	0	T	23509638	G	T	23509638	3	4	249	1	0	0	0	0	1	0	0	0	12463	1348	47	5	135	5	PRDM9	5	23509638	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		23509638	157405622	19	10894											
MTMR12	54545	broad.mit.edu	37	chr5	32235068	32235068	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctaagagggactcttacCatgttagtatctttttgatg	9	17	8	7	0	2	2	0	1	2	1	3	3	3	3	2	1	1	2	2	1	4	7			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr5:32235068C>T	uc003jhq.3	-	14	1682	c.1512_splice	c.e14+1	p.M504_splice	MTMR12_uc010iuk.3_Splice_Site_p.M504_splice|MTMR12_uc010iul.3_Intron	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	Homo sapiens myotubularin related protein 12 (MTMR12), mRNA.	504	Interaction with MTM1.|Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GGACTCTTACCATGTTAGTAT	0.378													13	33					0	0	1	0	0	T	32235068	C	T	32235068	5	4	249	1	0	0	0	0	0	0	1	0	9941	608	21	3	743	3	MTMR12	5	32235068	Splice_Site	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	8725430	32235068	148680192	20	10895											
ABLIM3	22885	broad.mit.edu	37	chr5	148622095	148622095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaacccccgatctacaaaCggcatggtatggtcagaggt	12	7	12	10	2	2	1	1	0	1	1	2	3	2	2	2	5	3	2	2	5	4	2	rs139404389	byFrequency	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr5:148622095C>T	uc003lpy.2	+	14	1596	c.1345C>T	c.(1345-1347)Cgg>Tgg	p.R449W	ABLIM3_uc003lpz.1_Missense_Mutation_p.R449W|ABLIM3_uc003lqa.1_Intron|ABLIM3_uc003lqb.3_Intron|ABLIM3_uc003lqc.1_Missense_Mutation_p.R416W|ABLIM3_uc003lqd.1_Missense_Mutation_p.R354W|ABLIM3_uc003lqe.1_Intron|ABLIM3_uc003lqf.3_Intron	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	449					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCTACAAACGGCATGGTAT	0.572													12	130					0	0	1	0	0	T	148622095	C	T	148622095	3	4	249	1	0	0	0	0	1	0	0	0	96	527	19	1	1399	1	ABLIM3	5	148622095	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	116387027	148622095	32293165	21	10896											
ATP10B	23120	broad.mit.edu	37	chr5	160039781	160039781	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgatggtataaacagtgtcGgtctgatttaacagtctgca	11	14	10	6	1	2	2	0	2	2	0	3	2	2	2	0	2	3	2	0	2	4	5			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr5:160039781G>A	uc003lym.1	-	17	3652	c.2805C>T	c.(2803-2805)acC>acT	p.T935T	ATP10B_uc010jit.1_Silent_p.T252T|ATP10B_uc003lyn.3_Silent_p.T493T	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	935					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAACAGTGTCGGTCTGATTTA	0.493													12	50					0	0	1	0	0	A	160039781	G	A	160039781	2	1	249	1	0	0	0	0	0	0	0	1	1117	1103	39	2		2	ATP10B	5	160039781	Silent	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	11417686	160039781	20875479	22	10897											
RREB1	6239	broad.mit.edu	37	chr6	7229901	7229901	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggtggtggccacctccacGcccccgcctctcatcaacgc	6	6	9	20	4	2	0	2	0	1	0	4	0	3	0	6	3	1	0	6	3	1	0			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:7229901G>C	uc003mxb.3	+	9	2061	c.1569G>C	c.(1567-1569)acG>acC	p.T523T	RREB1_uc021yky.1_Silent_p.T523T|RREB1_uc003mxc.3_Silent_p.T523T|RREB1_uc010jnx.3_Silent_p.T523T|RREB1_uc021ykz.1_Silent_p.T523T|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	523	Pro-rich.				Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCACCTCCACGCCCCCGCCTC	0.687													9	103					0	0	1	0	0	C	7229901	G	C	7229901	2	2	249	1	0	0	0	0	0	0	0	1	13679	1074	38	5		5	RREB1	6	7229901	Silent	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		7229901	163885166	23	10898											
STK19	8859	broad.mit.edu	37	chr6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A																															attcagcgacagtggcgggcINSaaacccctcccggggcgggg																										TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:31939829_31939830insA	uc003nyv.3	+	0	184_185	c.56_57insA	c.(55-57)gcafs	p.A19fs	DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.3_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.2_Frame_Shift_Ins_p.A19fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.3_Frame_Shift_Ins_p.A19fs|STK19_uc010jtn.1_5'Flank	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	19						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													8	213	---	---	---	---						A	31939830	-	A	31939829	7	5	249	1	0	1	1	0	0	0	0	0	15291	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-HT-A5RC-01A-11D-A289-08	24709928	31939829	139175238	24	10899											
EGFL8	80864	broad.mit.edu	37	chr6	32135153	32135153	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcggaaaaagatgagcgcGctctgaagcaggagattcac	14	5	14	8	3	2	4	1	2	1	2	2	6	2	5	0	3	2	2	0	3	3	1	rs149576421		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:32135153G>T	uc003oab.1	+	6	735	c.628G>T	c.(628-630)Gct>Tct	p.A210S	EGFL8_uc003nzy.2_Non-coding_Transcript|EGFL8_uc003oac.1_Missense_Mutation_p.A210S	NM_030652	NP_085155	Q99944	EGFL8_HUMAN	Homo sapiens EGF-like-domain, multiple 8 (EGFL8), transcript variant 1, mRNA.	210						extracellular region|integral to membrane	calcium ion binding	p.R209H(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						AGATGAGCGCGCTCTGAAGCA	0.652													36	44					3.76114e-14	3.85287e-14	1	1	0	T	32135153	G	T	32135153	3	4	249	1	0	0	0	0	1	0	0	0	4965	1087	38	5	650	5	EGFL8	6	32135153	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	195324	32135153	138979914	25	10900											
PPP2R5D	5528	broad.mit.edu	37	chr6	42975186	42975186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcttacgtttccttgagtCtcctgatttccagccaaaca	8	15	5	13	1	2	2	0	2	2	0	5	2	4	2	4	0	3	1	4	0	2	5			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:42975186C>T	uc003oth.3	+	5	754	c.668C>T	c.(667-669)tCt>tTt	p.S223F	MEA1_uc010jyc.1_Intron|PPP2R5D_uc010jyd.3_Missense_Mutation_p.S117F|PPP2R5D_uc011dva.2_Missense_Mutation_p.S72F|PPP2R5D_uc003oti.3_Missense_Mutation_p.S72F|PPP2R5D_uc021yzq.1_Missense_Mutation_p.S191F|PPP2R5D_uc003otj.3_Missense_Mutation_p.S72F	NM_006245	NP_006236	Q14738	2A5D_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', delta (PPP2R5D), transcript variant 1, mRNA.	223					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TTCCTTGAGTCTCCTGATTTC	0.512													45	82					0	0	1	0	0	T	42975186	C	T	42975186	3	4	249	1	0	0	0	0	1	0	0	0	12395	913	32	3	690	3	PPP2R5D	6	42975186	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	10840033	42975186	128139881	26	10901											
MEP1A	4224	broad.mit.edu	37	chr6	46800871	46800871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaagaggaacagaagtttcGctaccttttccagggcacaa	14	8	9	10	1	0	2	0	0	0	2	2	3	1	3	2	2	2	3	2	2	5	4			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:46800871G>A	uc011dwh.1	+	9	1297	c.1289G>A	c.(1288-1290)cGc>cAc	p.R430H	MEP1A_uc010jzh.1_Missense_Mutation_p.R402H|MEP1A_uc011dwg.1_Missense_Mutation_p.R124H|MEP1A_uc011dwi.1_Missense_Mutation_p.R302H	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	402	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.R402H(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CAGAAGTTTCGCTACCTTTTC	0.507													34	73					0	0	1	0	0	A	46800871	G	A	46800871	3	1	249	1	0	0	0	0	1	0	0	0	9475	1087	38	1	1247	1	MEP1A	6	46800871	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	3825685	46800871	124314196	27	10902											
EEF1A1	1915	broad.mit.edu	37	chr6	74228912	74228914	+	In_Frame_Del	DEL	CAC	CAC	-																															ggagataccagcttcaaattCaccaacaccagcagcaacaa																										TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:74228912_74228914delCAC	uc003phi.3	-	2	1354_1356	c.362_364delGTG	c.(361-366)ggtgaa>gaa	p.G121del	EEF1A1_uc003phj.3_In_Frame_Del_p.G121del|EEF1A1_uc021zbs.1_Non-coding_Transcript|EEF1A1_uc003phl.3_Intron|EEF1A1_uc003phm.1_Intron|EEF1A1_uc021zbt.1_5'Flank|EEF1A1_uc021zbu.1_5'Flank	NM_001402	NP_001393	P68104	EF1A1_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA.	121						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GCTTCAAATTCACCAACACCAGC	0.448											OREG0003891	type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	11	31	---	---	---	---						-	74228914	CAC	-	74228912	7	5	249	1	0	1	0	1	0	0	0	0	4923	835	29	0	1044	0	EEF1A1	6	74228912	In_Frame_Del	DEL	CAC	TCGA-HT-A5RC-01A-11D-A289-08	27428041	74228912	96886155	28	10903											
TIAM2	26230	broad.mit.edu	37	chr6	155578065	155578065	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgccccattaaacgaaaagCcaacagcaccaagagggaca	17	3	8	13	1	0	1	0	0	0	1	0	3	0	2	4	1	5	1	4	1	6	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:155578065C>G	uc003qqb.3	+	28	6189	c.4916C>G	c.(4915-4917)gCc>gGc	p.A1639G	TIAM2_uc003qqe.3_Missense_Mutation_p.A1639G|TFB1M_uc003qqj.4_3'UTR|TIAM2_uc010kjj.3_Missense_Mutation_p.A1201G|TIAM2_uc003qqf.3_Missense_Mutation_p.A1015G|TIAM2_uc011efl.1_Missense_Mutation_p.A983G|TIAM2_uc003qqg.3_Missense_Mutation_p.A951G|TIAM2_uc003qqh.3_Missense_Mutation_p.A564G|TFB1M_uc003qqi.1_5'Flank	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	1639				A -> T (in Ref. 7; BAC86170).	apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AAACGAAAAGCCAACAGCACC	0.567													23	31					0	0	1	0	0	G	155578065	C	G	155578065	3	3	249	1	0	0	0	0	1	0	0	0	15888	739	26	5	5010	5	TIAM2	6	155578065	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	81349153	155578065	15537002	29	10904											
GLI3	2737	broad.mit.edu	37	chr7	42006178	42006178	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgtccaccccagagaggtcGcttctgcccgggagaagcgt	8	6	13	14	4	1	2	0	0	1	2	3	4	2	2	4	2	2	1	4	2	1	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:42006178G>A	uc011kbh.2	-	14	2584	c.2493C>T	c.(2491-2493)agC>agT	p.S831S	GLI3_uc011kbg.2_Silent_p.S772S	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	831					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S831S(2)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CAGAGAGGTCGCTTCTGCCCG	0.602									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				46	138					0	0	1	0	0	A	42006178	G	A	42006178	2	1	249	1	0	0	0	0	0	0	0	1	6439	1078	38	1		1	GLI3	7	42006178	Silent	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		42006178	117132485	30	10905											
EGFR	1956	broad.mit.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtcaagacctgcccggcagGagtcatgggagaaaacaaca	14	4	12	11	2	2	2	2	0	0	2	2	4	2	3	2	3	3	1	2	3	4	0	rs139236063		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:55233043G>T	uc003tqk.3	+	14	2039	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(31)|p.A597T(1)|p.A597P(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			1305	1732					1.82951e-191	1.97024e-191	1	1	0	T	55233043	G	T	55233043	3	4	249	1	0	0	0	0	1	0	0	0	4967	1174	41	5	1862	5	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	13226865	55233043	103905620	31	10906											
ZNF679	168417	broad.mit.edu	37	chr7	63709527	63709527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accgggatcccctggaagccGagaaatggtgagtgctgggt	9	7	16	9	2	0	2	0	1	0	1	1	5	1	4	4	4	2	1	4	4	2	0			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:63709527G>A	uc003tsx.3	+	1	301	c.32G>A	c.(31-33)cGa>cAa	p.R11Q		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						CCTGGAAGCCGAGAAATGGTG	0.572													16	66					0	0	1	0	0	A	63709527	G	A	63709527	3	1	249	1	0	0	0	0	1	0	0	0	18083	1058	37	2	34	2	ZNF679	7	63709527	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	8476484	63709527	95429136	32	10907											
SLC13A1	6561	broad.mit.edu	37	chr7	122759134	122759134	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggataaatgagatactcaCcaatggagataatattggga	16	9	12	4	0	1	2	1	1	0	2	1	6	1	4	1	4	1	0	1	4	6	5			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:122759134C>T	uc003vkm.3	-	13	1537	c.1512_splice	c.e13+1	p.L504_splice	SLC13A1_uc010lks.3_Splice_Site_p.L380_splice	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	504						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GAGATACTCACCAATGGAGAT	0.383													10	45					0	0	1	0	0	T	122759134	C	T	122759134	5	4	249	1	0	0	0	0	0	0	1	0	14391	521	18	3	286	3	SLC13A1	7	122759134	Splice_Site	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	59049607	122759134	36379529	33	10908											
DLC1	10395	broad.mit.edu	37	chr8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgactggctgctgctgctgCtggtctgcgtggagttggaa	4	11	16	10	2	1	0	0	0	1	0	1	3	1	2	1	4	5	6	1	4	1	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr8:12957624C>G	uc003wwm.2	-	8	2666	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_uc003wwk.1_Missense_Mutation_p.S304T|DLC1_uc003wwl.1_Missense_Mutation_p.S338T|DLC1_uc011kxx.1_Missense_Mutation_p.S230T	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	741	Poly-Ser.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGCTGCTGCTGGTCTGCGT	0.627													4	62					0	0	1	0	0	G	12957624	C	G	12957624	3	3	249	1	0	0	0	0	1	0	0	0	4550	797	28	5	2404	5	DLC1	8	12957624	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08		12957624	133406398	34	10909											
ZHX1	11244	broad.mit.edu	37	chr8	124267666	124267666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttactgatagatattcccGaagaagaaacttctgtagat	14	14	7	6	1	1	5	0	1	1	4	2	6	2	5	1	0	2	1	1	0	7	7	rs35951597	byFrequency	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr8:124267666G>A	uc003yqe.3	-	2	1131	c.521C>T	c.(520-522)tCg>tTg	p.S174L	C8orf76_uc003yqd.3_Intron|ZHX1_uc003yqf.3_Missense_Mutation_p.S174L|ZHX1_uc003yqg.3_Intron|ZHX1_uc010mdi.3_Missense_Mutation_p.S174L|ZHX1_uc022bak.1_Missense_Mutation_p.S174L	NM_007222	NP_009153	Q9UKY1	ZHX1_HUMAN	Homo sapiens zinc fingers and homeoboxes 1 (ZHX1), transcript variant 2, mRNA.	174					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AGATATTCCCGAAGAAGAAAC	0.343													14	59					0	0	1	0	0	A	124267666	G	A	124267666	3	1	249	1	0	0	0	0	1	0	0	0	17672	1059	37	2	2104	2	ZHX1	8	124267666	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	111310042	124267666	22096356	35	10910											
PPP3R2	5535	broad.mit.edu	37	chr9	104356877	104356877	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcacctggaagagctccccGttggaaatgtagccatcttt	10	10	10	11	1	1	1	0	0	1	1	2	3	2	3	4	2	3	4	4	2	3	3			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr9:104356877G>A	uc004bbr.3	-	0	407	c.336C>T	c.(334-336)aaC>aaT	p.N112N	GRIN3A_uc004bbp.2_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_Non-coding_Transcript	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN	Homo sapiens protein phosphatase 3, regulatory subunit B, beta (PPP3R2), mRNA.	109	EF-hand 3.						calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	AGAGCTCCCCGTTGGAAATGT	0.542													33	68					0	0	1	0	0	A	104356877	G	A	104356877	2	1	249	1	0	0	0	0	0	0	0	1	12401	1136	40	1		1	PPP3R2	9	104356877	Silent	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		104356877	36856554	36	10911											
CALML3	810	broad.mit.edu	37	chr10	5567140	5567140	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacggctgcatcaccacccGcgagctgggcacggtcatgc	7	5	14	15	4	2	0	2	0	0	0	2	2	2	1	2	4	3	4	2	4	0	0			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr10:5567140G>A	uc001iie.1	+	0	217	c.92G>A	c.(91-93)cGc>cAc	p.R31H	AK128534_uc001iid.1_5'Flank	NM_005185	NP_005176	P27482	CALL3_HUMAN	Homo sapiens calmodulin-like 3 (CALML3), mRNA.	31	EF-hand 1.						calcium ion binding			endometrium(3)|lung(2)	5						ATCACCACCCGCGAGCTGGGC	0.647													18	22					0	0	1	0	0	A	5567140	G	A	5567140	3	1	249	1	0	0	0	0	1	0	0	0	2587	1087	38	1	94	1	CALML3	10	5567140	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		5567140	129967607	37	10912											
TRDMT1	1787	broad.mit.edu	37	chr10	17204201	17204201	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatatgtaagaagctattcGtccttgaatcagtcatatca	14	13	7	7	1	3	2	3	1	0	1	5	3	4	2	1	0	1	2	1	0	7	6	rs143074583		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr10:17204201G>C	uc001iop.3	-	3	724	c.287C>G	c.(286-288)aCg>aGg	p.T96R	TRDMT1_uc001ios.3_Missense_Mutation_p.T25R|TRDMT1_uc009xjt.3_Missense_Mutation_p.T37R|TRDMT1_uc010qcc.1_Missense_Mutation_p.T25R|TRDMT1_uc010qcd.2_Intron|TRDMT1_uc021pnn.1_Intron|TRDMT1_uc009xjs.1_Intron|TRDMT1_uc021pno.1_Intron|TRDMT1_uc009xju.1_Intron	NM_004412	NP_004403	O14717	TRDMT_HUMAN	Homo sapiens tRNA aspartic acid methyltransferase 1 (TRDMT1), mRNA.	96					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						GAAGCTATTCGTCCTTGAATC	0.343													33	34					0	0	1	0	0	C	17204201	G	C	17204201	3	2	249	1	0	0	0	0	1	0	0	0	16464	1145	40	5	920	5	TRDMT1	10	17204201	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	11637061	17204201	118330546	38	10913											
CTNNA3	29119	broad.mit.edu	37	chr10	68040315	68040315	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgattatcatccaacacAttcaatgagcttttgcttaa	14	15	4	8	0	2	2	2	2	0	0	3	2	3	2	1	0	3	2	1	0	5	6			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr10:68040315A>C	uc009xpn.1	-	12	1920	c.1797T>G	c.(1795-1797)aaT>aaG	p.N599K	CTNNA3_uc001jmw.2_Missense_Mutation_p.N599K	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	599					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.L598L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CATCCAACACATTCAATGAGC	0.338													24	21					0	0	1	0	0	C	68040315	A	C	68040315	3	2	249	1	0	0	0	0	1	0	0	0	4014	214	8	5	914	5	CTNNA3	10	68040315	Missense_Mutation	SNP	A	TCGA-HT-A5RC-01A-11D-A289-08	50836114	68040315	67494432	39	10914											
OR8J3	81168	broad.mit.edu	37	chr11	55904472	55904472	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgctatcatatgcgaagcGcaggtggaaaaggctttttt	11	12	11	7	2	1	0	1	0	0	0	1	2	1	1	0	3	3	3	0	3	5	5			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr11:55904472G>A	uc010riz.2	-	0	723	c.723C>T	c.(721-723)tgC>tgT	p.C241C		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TATGCGAAGCGCAGGTGGAAA	0.388													25	39					0	0	1	0	0	A	55904472	G	A	55904472	2	1	249	1	0	0	0	0	0	0	0	1	11242	1079	38	1		1	OR8J3	11	55904472	Silent	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		55904472	79102044	40	10915											
CD163L1	283316	broad.mit.edu	37	chr12	7527057	7527057	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgagcagatgacccctgcGtcctccttgtgcctgcagtc	5	10	10	16	1	0	3	0	2	0	1	3	3	2	3	6	0	4	2	6	0	0	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr12:7527057G>A	uc010sge.2	-	12	3446	c.3420C>T	c.(3418-3420)gaC>gaT	p.D1140D	CD163L1_uc001qsy.3_Silent_p.D1130D	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1130						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGACCCCTGCGTCCTCCTTGT	0.567													44	73					0	0	1	0	0	A	7527057	G	A	7527057	2	1	249	1	0	0	0	0	0	0	0	1	2968	1136	40	1		1	CD163L1	12	7527057	Silent	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		7527057	126324838	41	10916											
GALNT4	8693	broad.mit.edu	37	chr12	89916851	89916854	+	Frame_Shift_Del	DEL	TTTG	TTTG	-																															acagaattaaaccttatttcTttgtttgaagtatattcaaa																										TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr12:89916851_89916854delTTTG	uc001tbd.3	-	0	1730_1733	c.1473_1476delCAAA	c.(1471-1476)aacaaafs	p.N491fs	GALNT4_uc001tba.3_Intron|GALNT4_uc001tbb.3_Intron|GALNT4_uc010sun.2_Intron|GALNT4_uc001tbc.3_Intron|GALNT4_uc001tbe.3_Frame_Shift_Del_p.N488fs|GALNT4_uc010suo.2_Frame_Shift_Del_p.N319fs	NM_003774	NP_003765	Q8N4A0	GALT4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4) (GALNT4), mRNA.	491	Ricin B-type lectin.				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.S490*(1)		endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						ACCTTATTTCTTTGTTTGAAGTAT	0.387													16	26	---	---	---	---						-	89916854	TTTG	-	89916851	7	5	249	1	0	1	0	1	0	0	0	0	6215	1606	56	0	264	0	GALNT4	12	89916851	Frame_Shift_Del	DEL	TTTG	TCGA-HT-A5RC-01A-11D-A289-08	82389794	89916851	43935044	42	10917											
KERA	11081	broad.mit.edu	37	chr12	91449551	91449551	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgttctgtaggtcaagaaGggtcaggttctccagattgc	8	13	13	7	0	4	2	2	0	2	2	5	2	4	2	1	3	1	4	1	3	3	5			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr12:91449551G>T	uc001tbl.3	-	1	1127	c.508C>A	c.(508-510)Ctt>Att	p.L170I		NM_007035	NP_008966	O60938	KERA_HUMAN	Homo sapiens keratocan (KERA), mRNA.	170					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						AGGTCAAGAAGGGTCAGGTTC	0.403													42	100					2.77807e-22	2.88096e-22	1	1	0	T	91449551	G	T	91449551	3	4	249	1	0	0	0	0	1	0	0	0	8143	1000	35	5	558	5	KERA	12	91449551	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	1532700	91449551	42402344	43	10918											
FAM71C	196472	broad.mit.edu	37	chr12	100043170	100043170	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattgtgattatacaatagaGatatgaatccaacatacctc	16	13	5	7	0	0	3	0	2	0	1	2	4	1	3	2	0	3	0	2	0	9	7			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr12:100043170G>A	uc001tgn.3	+	1	1145	c.720G>A	c.(718-720)gaG>gaA	p.E240E	ANKS1B_uc001tge.2_Intron|ANKS1B_uc001tgf.2_Intron|ANKS1B_uc009ztt.1_Intron	NM_153364	NP_699195	Q8NEG0	FA71C_HUMAN	Homo sapiens family with sequence similarity 71, member C (FAM71C), mRNA.	240										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		ATACAATAGAGATATGAATCC	0.413													32	59					0	0	1	0	0	A	100043170	G	A	100043170	2	1	249	1	0	0	0	0	0	0	0	1	5609	933	33	3		3	FAM71C	12	100043170	Silent	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	8593619	100043170	33808725	44	10919											
HSPA2	3306	broad.mit.edu	37	chr14	65007730	65007730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagcgcctcatcggcgacGccgccaagaaccaggtggcc	8	3	13	17	6	1	1	1	0	0	1	2	3	1	1	6	3	2	0	6	3	2	0			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr14:65007730G>A	uc001xhj.3	+	1	239	c.163G>A	c.(163-165)Gcc>Acc	p.A55T	HSPA2_uc001xhk.4_Missense_Mutation_p.A55T	NM_021979	NP_068814	P54652	HSP72_HUMAN	Homo sapiens heat shock 70kDa protein 2 (HSPA2), mRNA.	55					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CATCGGCGACGCCGCCAAGAA	0.597													22	72					0	0	1	0	0	A	65007730	G	A	65007730	3	1	249	1	0	0	0	0	1	0	0	0	7411	1087	38	1	165	1	HSPA2	14	65007730	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		65007730	42341810	45	10920											
TGM5	9333	broad.mit.edu	37	chr15	43545044	43545044	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgcttcaggatggccaCgctgcccgtccactccgcag	6	7	10	18	3	1	0	1	0	0	0	3	1	3	1	5	2	2	3	5	2	0	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr15:43545044C>G	uc001zrd.2	-	5	783	c.775G>C	c.(775-777)Gtg>Ctg	p.V259L	TGM5_uc001zre.2_Missense_Mutation_p.V177L	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	259					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1)	44		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;4e-07)	L-Glutamine(DB00130)	AGGATGGCCACGCTGCCCGTC	0.567													43	87					0	0	1	0	0	G	43545044	C	G	43545044	3	3	249	1	0	0	0	0	1	0	0	0	15830	536	19	5	1419	5	TGM5	15	43545044	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08		43545044	58986348	46	10921											
ACSBG1	23205	broad.mit.edu	37	chr15	78466000	78466000	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttctggatgtggtagggcCgggccgccgcgttcatgttg	4	11	16	10	4	2	0	1	0	1	0	2	1	2	1	3	4	0	3	3	4	1	4			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr15:78466000C>T	uc002bdh.3	-	12	2230	c.2024G>A	c.(2023-2025)cGg>cAg	p.R675Q	ACSBG1_uc010umx.2_Missense_Mutation_p.R433Q|ACSBG1_uc010umw.2_Missense_Mutation_p.R671Q	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 1 (ACSBG1), transcript variant 1, mRNA.	675					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GTGGTAGGGCCGGGCCGCCGC	0.562													34	48					0	0	1	0	0	T	78466000	C	T	78466000	3	4	249	1	0	0	0	0	1	0	0	0	173	652	23	2	158	2	ACSBG1	15	78466000	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	34920956	78466000	24065392	47	10922											
LAT	27040	broad.mit.edu	37	chr16	28996764	28996764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggccatcctggtcccctGcgtgctggggctcctgctgc	2	9	15	15	1	0	0	0	0	0	0	3	1	3	1	5	5	4	3	5	5	0	0			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr16:28996764G>A	uc010vdj.2	+	1	170	c.134G>A	c.(133-135)tGc>tAc	p.C45Y	NPIPL1_uc010vct.2_Intron|SPNS1_uc010vdi.1_3'UTR|SPNS1_uc002drx.2_3'UTR|SPNS1_uc002dsa.2_3'UTR|SPNS1_uc002drz.2_3'UTR|SPNS1_uc010byp.2_3'UTR|LAT_uc002dsb.3_Missense_Mutation_p.C9Y|LAT_uc002dsd.3_Missense_Mutation_p.C9Y|LAT_uc002dsc.3_Missense_Mutation_p.C9Y|LAT_uc010vdk.1_Missense_Mutation_p.C9Y|LAT_uc010vdl.1_Missense_Mutation_p.C9Y	NM_001014989	NP_001014987	O43561	LAT_HUMAN	Homo sapiens linker for activation of T cells (LAT), transcript variant 4, mRNA.	9					Ras protein signal transduction|T cell receptor signaling pathway|calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|regulation of T cell activation	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				CTGGTCCCCTGCGTGCTGGGG	0.642													26	52					0	0	1	0	0	A	28996764	G	A	28996764	3	1	249	1	0	0	0	0	1	0	0	0	8644	1319	46	3	140	3	LAT	16	28996764	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		28996764	61357989	48	10923											
PIK3R6	146850	broad.mit.edu	37	chr17	8741186	8741186	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccggaggtcctggctttcCgcctggaaaacaggagatca	9	8	13	11	2	1	1	1	0	0	1	3	4	3	3	4	5	2	1	4	5	2	1	rs149242502	by1000genomes	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr17:8741186C>T	uc002glq.1	-	4	432	c.192G>A	c.(190-192)gcG>gcA	p.A64A	PIK3R6_uc002glr.1_Non-coding_Transcript|PIK3R6_uc002gls.1_Non-coding_Transcript	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 6 (PIK3R6), mRNA.	64					platelet activation	cytosol											CCTGGCTTTCCGCCTGGAAAA	0.582													27	56					0	0	1	0	0	T	8741186	C	T	8741186	2	4	249	1	0	0	0	0	0	0	0	1	11923	639	23	2		2	PIK3R6	17	8741186	Silent	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08		8741186	72454024	49	10924											
EPN3	55040	broad.mit.edu	37	chr17	48613860	48613860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actgtgacctcgccacagtgGccctcagccctccacctccg	6	7	8	20	2	1	1	1	1	0	0	4	1	3	1	7	1	1	0	7	1	0	0			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr17:48613860G>A	uc010wms.2	+	1	378	c.190G>A	c.(190-192)Gcc>Acc	p.A64T	EPN3_uc002ira.4_5'UTR|EPN3_uc010wmt.2_Non-coding_Transcript|EPN3_uc010wmu.2_5'UTR			Q9H201	EPN3_HUMAN	Homo sapiens epsin 3 (EPN3), mRNA.	225	ENTH.					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CGCCACAGTGGCCCTCAGCCC	0.647													30	61					0	0	1	0	0	A	48613860	G	A	48613860	3	1	249	1	0	0	0	0	1	0	0	0	5187	1218	42	3		3	EPN3	17	48613860	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	39872674	48613860	32581350	50	10925											
MED13	9969	broad.mit.edu	37	chr17	60111221	60111221	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttttcttcagacatctcCttcaagcaacatgagatagg	11	14	7	9	0	4	2	2	1	2	2	5	3	4	2	1	1	2	2	1	1	3	5			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr17:60111221C>T	uc002izo.3	-	4	818	c.741G>A	c.(739-741)aaG>aaA	p.K247K	Y_RNA_uc021ubc.1_5'Flank	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	247					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CAGACATCTCCTTCAAGCAAC	0.383													6	55					0	0	1	0	0	T	60111221	C	T	60111221	2	4	249	1	0	0	0	0	0	0	0	1	9430	680	24	3		3	MED13	17	60111221	Silent	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	11497361	60111221	21083989	51	10926											
SETBP1	26040	broad.mit.edu	37	chr18	42532027	42532027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acccggaggccattccgtccGacaccagcacaaagaaccgg	12	3	10	16	4	0	1	0	0	0	1	2	3	2	2	6	3	2	1	6	3	2	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr18:42532027G>A	uc010dni.3	+	3	3018	c.2722G>A	c.(2722-2724)Gac>Aac	p.D908N		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	908						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CATTCCGTCCGACACCAGCAC	0.532									Schinzel-Giedion syndrome				17	33					0	0	1	0	0	A	42532027	G	A	42532027	3	1	249	1	0	0	0	0	1	0	0	0	14129	1058	37	2	2925	2	SETBP1	18	42532027	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		42532027	35545221	52	10927											
SALL3	27164	broad.mit.edu	37	chr18	76752248	76752248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgatcgtgcacgaggacgCgcccgcgccgccccccgagg	5	3	15	18	8	0	1	0	1	0	0	1	4	0	2	5	2	1	2	5	2	0	0			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr18:76752248C>T	uc002lmt.3	+	1	257	c.257C>T	c.(256-258)gCg>gTg	p.A86V	SALL3_uc010dra.3_5'Flank	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CACGAGGACGCGCCCGCGCCG	0.726													10	20					0	0	1	0	0	T	76752248	C	T	76752248	3	4	249	1	0	0	0	0	1	0	0	0	13812	768	27	1	263	1	SALL3	18	76752248	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	34220221	76752248	1325000	53	10928											
HCN2	610	broad.mit.edu	37	chr19	613254	613254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcccccctgcaggagatcGtcaacttcaactgccggaag	9	7	9	16	2	2	1	2	0	0	1	4	3	3	2	5	2	4	1	5	2	3	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr19:613254G>A	uc002lpe.3	+	5	1644	c.1591G>A	c.(1591-1593)Gtc>Atc	p.V531I		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 2 (HCN2), mRNA.	531					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GCAGGAGATCGTCAACTTCAA	0.672													17	32					0	0	1	0	0	A	613254	G	A	613254	3	1	249	1	0	0	0	0	1	0	0	0	6997	1145	40	1	1613	1	HCN2	19	613254	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		613254	58515729	54	10929											
KIAA1683	80726	broad.mit.edu	37	chr19	18377437	18377437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctggatggtctcgtaactgCctggtcataccttctggaca	7	13	10	11	1	4	0	1	0	3	0	5	2	4	2	2	4	3	1	2	4	2	3			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr19:18377437C>T	uc010ebn.2	-	2	1129	c.913G>A	c.(913-915)Gca>Aca	p.A305T	KIAA1683_uc002nin.2_Missense_Mutation_p.A305T|KIAA1683_uc010xqe.1_Missense_Mutation_p.A259T	NM_001145304	NP_001138776	Q9H0B3	K1683_HUMAN	Homo sapiens KIAA1683 (KIAA1683), transcript variant 1, mRNA.	305						mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTCGTAACTGCCTGGTCATAC	0.567													41	138					0	0	1	0	0	T	18377437	C	T	18377437	3	4	249	1	0	0	0	0	1	0	0	0	8251	739	26	3	3198	3	KIAA1683	19	18377437	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	17764183	18377437	40751546	55	10930											
ZNF569	148266	broad.mit.edu	37	chr19	37903500	37903502	+	In_Frame_Del	DEL	TAA	TAA	-																															cacaatattcatagggtttcTaatgagtatgaattctctgg																										TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr19:37903500_37903502delTAA	uc002ogj.3	-	8	3062_3064	c.2130_2132delTTA	c.(2128-2133)cattag>cag	p.710_711H*>Q	ZNF569_uc002ogh.3_In_Frame_Del_p.527_528H*>Q|ZNF569_uc002ogi.3_In_Frame_Del_p.686_687H*>Q	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	686					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATAGGGTTTCTAATGAGTATGAA	0.399													37	70	---	---	---	---						-	37903502	TAA	-	37903500	7	5	249	1	0	1	0	1	0	0	0	0	17997	1535	53	0	4	0	ZNF569	19	37903500	In_Frame_Del	DEL	TAA	TCGA-HT-A5RC-01A-11D-A289-08	19526063	37903500	21225483	56	10931											
MYH7B	57644	broad.mit.edu	37	chr20	33568534	33568534	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgcctacaacgacatgctgCgcagtaagggccgcctggac	10	5	12	14	4	0	0	0	0	0	0	0	2	0	1	3	2	4	3	3	2	3	2			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr20:33568534C>T	uc002xbi.2	+	7	939	c.622C>T	c.(622-624)Cgc>Tgc	p.R208C	MYH7B_uc010gfa.1_Missense_Mutation_p.R166C	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	166	Myosin head-like.					membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGACATGCTGCGCAGTAAGGG	0.652													41	86					0	0	1	0	0	T	33568534	C	T	33568534	3	4	249	1	0	0	0	0	1	0	0	0	10040	768	27	1	644	1	MYH7B	20	33568534	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08		33568534	29456986	57	10932											
SYN3	8224	broad.mit.edu	37	chr22	32937651	32937651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtaggttttggccatggCgaccacgctggtgatgtcct	5	11	15	10	3	0	1	0	1	0	0	1	2	1	1	3	5	0	3	3	5	1	3	rs141167959		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr22:32937651C>T	uc003amx.3	-	6	985	c.823G>A	c.(823-825)Gcc>Acc	p.A275T	SYN3_uc003amy.3_Missense_Mutation_p.A275T|SYN3_uc003amz.3_Missense_Mutation_p.A274T	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	275	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TTGGCCATGGCGACCACGCTG	0.542													15	29					0	0	1	0	0	T	32937651	C	T	32937651	3	4	249	1	0	0	0	0	1	0	0	0	15439	768	27	1	947	1	SYN3	22	32937651	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08		32937651	18366915	58	10933											
TMPRSS6	164656	broad.mit.edu	37	chr22	37471260	37471260	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagttgatggtgatcccGgccgtggccaccacggggat	7	8	16	10	3	0	3	0	3	0	0	1	4	1	4	4	5	0	1	4	5	1	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr22:37471260G>A	uc003aqt.1	-	10	1319	c.1257C>T	c.(1255-1257)gcC>gcT	p.A419A	TMPRSS6_uc003aqs.1_Silent_p.A428A	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	428	CUB 2.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TGGTGATCCCGGCCGTGGCCA	0.652													50	78					0	0	1	0	0	A	37471260	G	A	37471260	2	1	249	1	0	0	0	0	0	0	0	1	16248	1103	39	2		2	TMPRSS6	22	37471260	Silent	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	4533609	37471260	13833306	59	10934											
MID1	4281	broad.mit.edu	37	chrX	10534972	10534972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaagctgccacctgatgatCgcggtgccgcccaaccagtt	9	7	10	15	3	0	2	0	2	0	0	1	2	0	2	5	1	4	2	5	1	2	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chrX:10534972C>T	uc004cte.4	-	1	806	c.616G>A	c.(616-618)Gat>Aat	p.D206N	MID1_uc004ctd.4_5'Flank|MID1_uc004ctg.4_Missense_Mutation_p.D206N|MID1_uc004cth.4_Intron|MID1_uc004ctk.4_Missense_Mutation_p.D206N|MID1_uc004ctj.4_Missense_Mutation_p.D206N|MID1_uc004cti.4_Missense_Mutation_p.D206N|MID1_uc011mie.1_Intron|MID1_uc004ctm.2_Missense_Mutation_p.D206N|MID1_uc004ctn.2_Missense_Mutation_p.D206N|MID1_uc004cto.2_Intron|MID1_uc010ndw.1_5'Flank|MID1_uc004cts.1_5'Flank|MID1_uc004ctt.3_Missense_Mutation_p.D206N|MID1_uc004ctu.3_Missense_Mutation_p.D206N|MID1_uc004ctv.3_Intron|MID1_uc004ctw.3_Intron|MID1_uc010ndy.2_Missense_Mutation_p.D206N|MID1_uc010ndz.1_5'Flank|MID1_uc004cty.3_Intron|MID1_uc004ctz.1_5'Flank|MID1_uc004cua.1_Non-coding_Transcript|MID1_uc004cub.1_Missense_Mutation_p.D206N|MID1_uc004cuc.1_Missense_Mutation_p.D206N|MID1_uc004cud.1_Missense_Mutation_p.D206N|MID1_uc004cue.1_Intron|MID1_uc004cuf.1_Intron	NM_001193277	NP_150632	O15344	TRI18_HUMAN	Homo sapiens midline 1 (Opitz/BBB syndrome) (MID1), transcript variant 2, mRNA.	206					microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						ACCTGATGATCGCGGTGCCGC	0.488													25	57					0	0	1	0	0	T	10534972	C	T	10534972	3	4	249	1	0	0	0	0	1	0	0	0	9576	884	31	2	1423	2	MID1	23	10534972	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08		10534972	144735588	60	10935											
GPR64	10149	broad.mit.edu	37	chrX	19031906	19031906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtggggtgccggagacatGggtttggggcataggggaag	8	7	22	4	1	0	1	0	0	0	1	0	3	0	2	1	9	1	2	1	9	2	2			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chrX:19031906G>A	uc004cyx.3	-	15	1239	c.997C>T	c.(997-999)Cat>Tat	p.H333Y	GPR64_uc004cze.3_Missense_Mutation_p.H303Y|GPR64_uc004cza.3_Missense_Mutation_p.H311Y|GPR64_uc004czf.3_Missense_Mutation_p.H295Y|GPR64_uc004cyy.3_Missense_Mutation_p.H330Y|GPR64_uc004czc.3_Missense_Mutation_p.H317Y|GPR64_uc004cyz.3_Missense_Mutation_p.H319Y|GPR64_uc004czb.3_Missense_Mutation_p.H333Y|GPR64_uc004czd.3_Missense_Mutation_p.H309Y|GPR64_uc004cyw.3_Missense_Mutation_p.H317Y|GPR64_uc010nfj.3_Missense_Mutation_p.H303Y	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	Homo sapiens G protein-coupled receptor 64 (GPR64), transcript variant 1, mRNA.	333					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CCGGAGACATGGGTTTGGGGC	0.582													88	168					0	0	1	0	0	A	19031906	G	A	19031906	3	1	249	1	0	0	0	0	1	0	0	0	6705	1348	47	3	2112	3	GPR64	23	19031906	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	8496934	19031906	136238654	61	10936											
PNMA5	114824	broad.mit.edu	37	chrX	152159280	152159280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctaagagatgtttcagaCgaatcatgtctgtgctgcgc	10	11	12	8	2	3	2	2	0	1	2	3	5	3	2	0	0	3	3	0	0	2	2			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chrX:152159280C>T	uc022chn.1	-	0	863	c.863G>A	c.(862-864)cGt>cAt	p.R288H	PNMA5_uc010ntx.3_Missense_Mutation_p.R288H|PNMA5_uc010ntw.3_Missense_Mutation_p.R288H|PNMA5_uc004fgy.4_Missense_Mutation_p.R288H|PNMA5_uc022chm.1_Missense_Mutation_p.R288H	NM_052926	NP_443158	Q96PV4	PNMA5_HUMAN	Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA.	288					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTTTCAGACGAATCATGTC	0.562													42	91					0	0	1	0	0	T	152159280	C	T	152159280	3	4	249	1	0	0	0	0	1	0	0	0	12156	536	19	1	487	1	PNMA5	23	152159280	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	133127374	152159280	3111280	62	10937											
RAVER2	55225	broad.mit.edu	37	chr1	65268729	65268729	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctgcatttttacatttGaataaagcacatcaggtaca	13	14	5	9	0	2	1	1	1	1	0	3	1	2	1	1	1	4	3	1	1	5	6			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr1:65268729G>T	uc001dbt.2	+	3	860	c.813G>T	c.(811-813)ttG>ttT	p.L271F	RAVER2_uc001dbs.2_Missense_Mutation_p.L392F|RAVER2_uc010opb.2_Missense_Mutation_p.L271F	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 2 (RAVER2), mRNA.	392	RRM 3.					cytoplasm|nucleus	RNA binding|nucleotide binding	p.L392F(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TTTTACATTTGAATAAAGCAC	0.323													10	54					7.03913e-09	7.51636e-09	1	1	0	T	65268729	G	T	65268729	3	4	250	1	0	0	0	0	1	0	0	0	13095	1281	45	5	1198	5	RAVER2	1	65268729	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08		65268729	183981892	1	10938											
SLC35D1	23169	broad.mit.edu	37	chr1	67517761	67517761	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtagaggtagtggaaacGtctagaaaatttaaaaaggg	18	9	12	2	1	1	2	0	0	1	2	1	3	1	3	0	3	1	2	0	3	10	6			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr1:67517761G>A	uc001ddk.2	-	4	709	c.325_splice	c.e4-1	p.T109_splice	SLC35D1_uc010oph.2_Splice_Site_p.T30_splice	NM_015139	NP_055954	Q9NTN3	S35D1_HUMAN	Homo sapiens solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1 (SLC35D1), mRNA.	109					UDP-glucuronate biosynthetic process|chondroitin sulfate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-N-acetylgalactosamine transmembrane transporter activity|UDP-glucuronic acid transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	TAGTGGAAACGTCTAGAAAAT	0.299													22	32					0	0	1	0	0	A	67517761	G	A	67517761	5	1	250	1	0	0	0	0	0	0	1	0	14581	1159	40	1	777	1	SLC35D1	1	67517761	Splice_Site	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	2249032	67517761	181732860	2	10939											
CRTC2	200186	broad.mit.edu	37	chr1	153924630	153924630	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggtccaggggggtgggCagtggtgggggaaagtgcag	7	6	23	5	0	1	0	1	0	0	0	2	1	2	1	1	8	1	2	1	8	1	0			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr1:153924630C>A	uc021pab.1	-	9	1020	c.861G>T	c.(859-861)ctG>ctT	p.L287L	CRTC2_uc001fde.4_Non-coding_Transcript|CRTC2_uc001fdf.4_5'UTR	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.	287					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGGGGTGGGCAGTGGTGGGG	0.612													4	97					0.00909568	0.00924238	1	1	0	A	153924630	C	A	153924630	2	1	250	1	0	0	0	0	0	0	0	1	3900	697	25	5		5	CRTC2	1	153924630	Silent	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08	86406869	153924630	95325991	3	10940											
AQP10	89872	broad.mit.edu	37	chr1	154295506	154295506	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccatgtgcatcgttggacGcctcccctgggtcaagctcc	5	9	12	15	2	1	0	1	0	0	0	4	1	3	1	5	3	2	3	5	3	1	1			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr1:154295506G>A	uc001feu.3	+	2	321	c.281G>A	c.(280-282)cGc>cAc	p.R94H	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)			ATCGTTGGACGCCTCCCCTGG	0.532													9	82					0	0	1	0	0	A	154295506	G	A	154295506	3	1	250	1	0	0	0	0	1	0	0	0	822	1087	38	1	291	1	AQP10	1	154295506	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	370876	154295506	94955115	4	10941											
APOB	338	broad.mit.edu	37	chr2	21230419	21230419	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggcctccataatgttctcGttgtttccagcagagaaatt	9	14	9	9	1	1	1	0	0	1	1	4	2	3	1	3	1	1	4	3	1	2	5	rs72653101		TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr2:21230419G>A	uc002red.3	-	25	9449	c.9321C>T	c.(9319-9321)aaC>aaT	p.N3107N		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3107					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TAATGTTCTCGTTGTTTCCAG	0.403													33	46					0	0	1	0	0	A	21230419	G	A	21230419	2	1	250	1	0	0	0	0	0	0	0	1	785	1136	40	1		1	APOB	2	21230419	Silent	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08		21230419	221968954	5	10942											
WDR54	84058	broad.mit.edu	37	chr2	74652340	74652340	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccgggccatctgcgccctGgacctggcttctgaggtggg	3	8	16	14	2	2	1	0	1	2	0	2	2	2	2	4	5	1	1	4	5	0	1			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr2:74652340G>A	uc002slb.3	+	7	834	c.774G>A	c.(772-774)ctG>ctA	p.L258L		NM_032118	NP_115494	Q9H977	WDR54_HUMAN	Homo sapiens WD repeat domain 54 (WDR54), mRNA.	258										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						TCTGCGCCCTGGACCTGGCTT	0.527													34	61					0	0	1	0	0	A	74652340	G	A	74652340	2	1	250	1	0	0	0	0	0	0	0	1	17303	1335	47	3		3	WDR54	2	74652340	Silent	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	53421921	74652340	168547033	6	10943											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								9	26					0	0	1	0	0	T	209113112	C	T	209113112	3	4	250	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08	134460772	209113112	34086261	7	10944											
ZNF385D	79750	broad.mit.edu	37	chr3	21606071	21606071	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgataaacttacatcagAattaaatctcaactggcaaa	20	10	4	7	0	2	2	2	1	1	1	3	2	2	2	0	1	3	1	0	1	9	3			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr3:21606071A>G	uc003cce.3	-	2	679	c.271T>C	c.(271-273)Tct>Cct	p.S91P	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	91						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CTTACATCAGAATTAAATCTC	0.343													3	38					0	0	1	0	0	G	21606071	A	G	21606071	3	3	250	1	0	0	0	0	1	0	0	0	17875	246	9	3	940	3	ZNF385D	3	21606071	Missense_Mutation	SNP	A	TCGA-HT-A614-01A-11D-A29Q-08		21606071	176416359	8	10945											
SMARCC1	6599	broad.mit.edu	37	chr3	47704025	47704025	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggatgcattcatcctgagTacgacttccaacatgttccg	10	11	9	11	2	1	1	1	1	0	0	4	4	4	2	3	1	3	3	3	1	2	4			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr3:47704025T>C	uc003crq.2	-	19	2075	c.1957A>G	c.(1957-1959)Act>Gct	p.T653A	SMARCC1_uc011bbc.1_Non-coding_Transcript|SMARCC1_uc011bbd.1_Missense_Mutation_p.T544A	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA.	653	SANT.				chromatin remodeling|nervous system development|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TCATCCTGAGTACGACTTCCA	0.458													3	37					0	0	1	0	0	C	47704025	T	C	47704025	3	2	250	1	0	0	0	0	1	0	0	0	14775	1638	57	3	1396	3	SMARCC1	3	47704025	Missense_Mutation	SNP	T	TCGA-HT-A614-01A-11D-A29Q-08	26097954	47704025	150318405	9	10946											
TMEM129	92305	broad.mit.edu	37	chr4	1722422	1722422	+	Frame_Shift_Del	DEL	A	A	-																															ggcgcaagtggaagggcacgAaggcggcgtcctcgctgccc																										TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr4:1722422delA	uc003gdn.3	-	0	663	c.143delT	c.(142-144)ttcfs	p.F48fs	TMEM129_uc010iby.3_5'Flank|TMEM129_uc003gdm.3_Frame_Shift_Del_p.F48fs|TACC3_uc010ibz.3_5'Flank|TACC3_uc003gdo.3_5'Flank|TACC3_uc003gdp.3_5'Flank	NM_001127266	NP_001120738	A0AVI4	TM129_HUMAN	Homo sapiens transmembrane protein 129 (TMEM129), transcript variant 1, mRNA.	48						integral to membrane				lung(2)	2			OV - Ovarian serous cystadenocarcinoma(23;0.00765)			GAAGGGCACGAAGGCGGCGTC	0.711													2	4	---	---	---	---						-	1722422	A	-	1722422	7	5	250	1	0	1	0	1	0	0	0	0	16039	246	9	0	961	0	TMEM129	4	1722422	Frame_Shift_Del	DEL	A	TCGA-HT-A614-01A-11D-A29Q-08		1722422	189431854	10	10947											
CCDC149	91050	broad.mit.edu	37	chr4	24875312	24875312	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataagtcttacctgtttcctTttttcaggaggaagtgatgg	9	16	10	6	0	2	1	1	1	1	0	3	3	3	3	2	3	1	1	2	3	3	6			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr4:24875312T>C	uc003grc.3	-	2	354	c.255A>G	c.(253-255)aaA>aaG	p.K85K	CCDC149_uc003grd.3_Silent_p.K85K|CCDC149_uc011bxr.2_Silent_p.K85K|CCDC149_uc003gre.3_Silent_p.K30K	NM_001130726	NP_001124198	B4DZG3	B4DZG3_HUMAN	Homo sapiens coiled-coil domain containing 149 (CCDC149), transcript variant 2, mRNA.	85										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				CCTGTTTCCTTTTTTCAGGAG	0.343													7	9					0	0	1	0	0	C	24875312	T	C	24875312	2	2	250	1	0	0	0	0	0	0	0	1	2783	1838	64	3		3	CCDC149	4	24875312	Silent	SNP	T	TCGA-HT-A614-01A-11D-A29Q-08	23152890	24875312	166278964	11	10948											
YTHDC1	91746	broad.mit.edu	37	chr4	69189859	69189859	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaattaaggccacaaacctGtccatcacgtccgatcttta	12	11	5	13	2	3	0	2	0	1	0	5	1	5	0	4	1	1	0	4	1	4	3			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr4:69189859G>A	uc003hdx.3	-	9	1785	c.1432C>T	c.(1432-1434)Cag>Tag	p.Q478*	YTHDC1_uc003hdy.3_Nonsense_Mutation_p.Q460*	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA.	478	YTH.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CCACAAACCTGTCCATCACGT	0.353													6	42					0	0	1	0	0	A	69189859	G	A	69189859	4	1	250	1	0	0	0	0	0	1	0	0	17493	1386	48	3	783	3	YTHDC1	4	69189859	Nonsense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	44314547	69189859	121964417	12	10949											
ADH7	131	broad.mit.edu	37	chr4	100349018	100349018	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggagctgcatcatcaatcTtagcaacagaagattcatcc	14	9	8	10	0	4	2	3	0	1	2	5	4	5	3	1	1	4	3	1	1	4	2			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr4:100349018T>A	uc003huv.2	-	4	753	c.512A>T	c.(511-513)aAg>aTg	p.K171M	ADH7_uc021xqj.1_Missense_Mutation_p.K179M	NM_000673	NP_000664	P40394	ADH7_HUMAN	Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA.	171					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	ATCATCAATCTTAGCAACAGA	0.463													7	49					0	0	1	0	0	A	100349018	T	A	100349018	3	1	250	1	0	0	0	0	1	0	0	0	313	1609	56	5	668	5	ADH7	4	100349018	Missense_Mutation	SNP	T	TCGA-HT-A614-01A-11D-A29Q-08	31159159	100349018	90805258	13	10950											
DCHS2	54798	broad.mit.edu	37	chr4	155241554	155241554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgactcatctagcataaacGtcatgttttcatttcctgag	11	15	6	9	1	4	2	3	2	1	0	5	2	5	2	1	0	2	2	1	0	3	5			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr4:155241554G>A	uc003inw.2	-	13	3632	c.3632C>T	c.(3631-3633)aCg>aTg	p.T1211M		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1211	Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TAGCATAAACGTCATGTTTTC	0.408													22	46					0	0	1	0	0	A	155241554	G	A	155241554	3	1	250	1	0	0	0	0	1	0	0	0	4288	1145	40	1	5166	1	DCHS2	4	155241554	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	54892536	155241554	35912722	14	10951											
SLC6A18	348932	broad.mit.edu	37	chr5	1243683	1243683	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcagagtgcctcgggccCgggcctggccttcgtcgtct	3	10	14	14	4	1	1	0	0	1	1	4	1	1	1	4	3	2	1	4	3	0	2			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr5:1243683C>T	uc003jby.2	+	8	1268	c.1145C>T	c.(1144-1146)cCg>cTg	p.P382L		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	382					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCCTCGGGCCCGGGCCTGGCC	0.647													7	34					0	0	1	0	0	T	1243683	C	T	1243683	3	4	250	1	0	0	0	0	1	0	0	0	14681	652	23	2	1179	2	SLC6A18	5	1243683	Missense_Mutation	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08		1243683	179671577	15	10952											
DAP	1611	broad.mit.edu	37	chr5	10748365	10748365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgggtgtttctgcacaattCgcattccaccagctttcact	7	14	8	12	1	2	0	1	0	1	0	4	0	3	0	2	1	2	4	2	1	1	4			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr5:10748365C>T	uc011cmw.2	-	1	281	c.74G>A	c.(73-75)cGa>cAa	p.R25Q	DAP_uc003jez.4_Missense_Mutation_p.R25Q			P51397	DAP1_HUMAN	Homo sapiens death-associated protein (DAP), mRNA.	25					activation of caspase activity|cellular response to amino acid starvation|induction of apoptosis by extracellular signals|negative regulation of NF-kappaB transcription factor activity|negative regulation of autophagy|negative regulation of transcription, DNA-dependent		death domain binding	p.R25Q(2)		endometrium(1)|large_intestine(1)|lung(1)	3		Ovarian(839;1.34e-05)|Breast(839;0.0634)|Lung NSC(810;0.0804)				CTGCACAATTCGCATTCCACC	0.502													14	24					0	0	1	0	0	T	10748365	C	T	10748365	3	4	250	1	0	0	0	0	1	0	0	0	4233	884	31	2	246	2	DAP	5	10748365	Missense_Mutation	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08	9504682	10748365	170166895	16	10953											
PCDHAC2	56134	broad.mit.edu	37	chr5	140347873	140347873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcagaggtgacctactccCttctggagagggagattcaa	11	9	12	9	0	2	4	1	1	1	3	3	6	3	4	2	3	2	1	2	3	2	3			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr5:140347873C>T	uc003lii.3	+	0	2127	c.1522C>T	c.(1522-1524)Ctt>Ttt	p.L508F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Missense_Mutation_p.L508F	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	508	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCTACTCCCTTCTGGAGAG	0.488													4	97					0	0	1	0	0	T	140347873	C	T	140347873	3	4	250	1	0	0	0	0	1	0	0	0	11533	681	24	3	1524	3	PCDHAC2	5	140347873	Missense_Mutation	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08	129599508	140347873	40567387	17	10954											
RNF145	153830	broad.mit.edu	37	chr5	158601111	158601111	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatgaaaagaacagggactAccagttgattccacagggac	15	6	10	10	0	0	3	0	2	0	1	1	5	1	5	3	2	2	1	3	2	4	3			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr5:158601111A>C	uc010jiq.2	-	5	917	c.767T>G	c.(766-768)gTa>gGa	p.V256G	RNF145_uc011ddy.2_Missense_Mutation_p.V240G|RNF145_uc003lxo.2_Missense_Mutation_p.V254G|RNF145_uc011ddz.2_Missense_Mutation_p.V243G|RNF145_uc003lxp.3_Missense_Mutation_p.V226G|RNF145_uc011dea.2_Missense_Mutation_p.V242G	NM_001199380	NP_001186309	Q96MT1	RN145_HUMAN	Homo sapiens ring finger protein 145 (RNF145), transcript variant 1, mRNA.	226						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AACAGGGACTACCAGTTGATT	0.433													7	17					0	0	1	0	0	C	158601111	A	C	158601111	3	2	250	1	0	0	0	0	1	0	0	0	13447	391	14	5	1338	5	RNF145	5	158601111	Missense_Mutation	SNP	A	TCGA-HT-A614-01A-11D-A29Q-08	18253238	158601111	22314149	18	10955											
ARID1B	57492	broad.mit.edu	37	chr6	157522460	157522460	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtctccttttctgccgtctAtgaagatgcagaaggtcatg	9	13	10	9	1	4	3	1	1	3	2	5	3	4	3	2	1	2	1	2	1	3	3	rs139214813		TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr6:157522460A>G	uc003qqp.3	+	16	4693	c.4693A>G	c.(4693-4695)Atg>Gtg	p.M1565V	ARID1B_uc003qqo.3_Missense_Mutation_p.M1578V|ARID1B_uc003qqn.3_Missense_Mutation_p.M1618V	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1565	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCTGCCGTCTATGAAGATGCA	0.602													6	126					0	0	1	0	0	G	157522460	A	G	157522460	3	3	250	1	0	0	0	0	1	0	0	0	914	449	16	3	4802	3	ARID1B	6	157522460	Missense_Mutation	SNP	A	TCGA-HT-A614-01A-11D-A29Q-08		157522460	13592607	19	10956											
ADCY1	107	broad.mit.edu	37	chr7	45717491	45717491	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcattaagaacagcctcGgaaaaactcagaaaccgctc	16	5	9	11	2	1	2	1	0	0	2	3	3	1	3	2	2	4	2	2	2	5	1			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr7:45717491G>A	uc003tne.4	+	8	1647	c.1629G>A	c.(1627-1629)tcG>tcA	p.S543S		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	543					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GAACAGCCTCGGAAAAACTCA	0.498													4	125					0	0	1	0	0	A	45717491	G	A	45717491	2	1	250	1	0	0	0	0	0	0	0	1	292	1103	39	2		2	ADCY1	7	45717491	Silent	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08		45717491	113421172	20	10957											
TAS2R41	259287	broad.mit.edu	37	chr7	143175752	143175752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatttatctccatgcagaacGacttttactggccatggcaa	12	12	7	10	1	1	1	0	0	1	1	2	2	1	1	2	2	3	2	2	2	5	4			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr7:143175752G>A	uc003wdc.1	+	0	787	c.787G>A	c.(787-789)Gac>Aac	p.D263N	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	263					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CATGCAGAACGACTTTTACTG	0.473													4	67					0	0	1	0	0	A	143175752	G	A	143175752	3	1	250	1	0	0	0	0	1	0	0	0	15576	1058	37	2	789	2	TAS2R41	7	143175752	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	97458261	143175752	15962911	21	10958											
TYRP1	7306	broad.mit.edu	37	chr9	12702411	12702414	+	Frame_Shift_Del	DEL	ACAA	ACAA	-																															ctcctttttattccaactctAcaaacagtttccgaaacaca																										TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr9:12702411_12702414delACAA	uc003zkv.4	+	4	1232_1235	c.1054_1057delACAA	c.(1054-1059)acaaacfs	p.T352fs		NM_000550	NP_000541	P17643	TYRP1_HUMAN	Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA.	352					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	p.N353fs*31(4)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TTCCAACTCTACAAACAGTTTCCG	0.387									Oculocutaneous Albinism				14	4	---	---	---	---						-	12702414	ACAA	-	12702411	7	5	250	1	0	1	0	1	0	0	0	0	16813	391	14	0	1068	0	TYRP1	9	12702411	Frame_Shift_Del	DEL	ACAA	TCGA-HT-A614-01A-11D-A29Q-08		12702411	128511020	22	10959											
PPP6C	5537	broad.mit.edu	37	chr9	127933438	127933438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgactcttctaagaggaggtCacaaacgtagtcacatagcc	13	9	9	10	1	4	2	2	1	2	1	4	3	4	3	1	2	2	1	1	2	4	4			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr9:127933438C>T	uc010mwv.3	-	2	429	c.208G>A	c.(208-210)Gac>Aac	p.D70N	PPP6C_uc004bpg.4_Missense_Mutation_p.D33N|PPP6C_uc010mww.3_Missense_Mutation_p.D33N|PPP6C_uc011lzr.2_5'UTR	NM_001123355	NP_001116827	O00743	PPP6_HUMAN	Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA.	33					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						AAGAGGAGGTCACAAACGTAG	0.328													32	49					0	0	1	0	0	T	127933438	C	T	127933438	3	4	250	1	0	0	0	0	1	0	0	0	12407	826	29	3	844	3	PPP6C	9	127933438	Missense_Mutation	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08	115231027	127933438	13279993	23	10960											
NUP188	23511	broad.mit.edu	37	chr9	131768629	131768629	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaaacagcggatgaagcaGgagctcagctctgagttggt	12	7	14	8	1	2	2	1	2	1	0	2	5	2	4	0	3	5	4	0	3	2	1			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr9:131768629G>A	uc004bws.1	+	42	5077	c.5055G>A	c.(5053-5055)caG>caA	p.Q1685Q		NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	1685					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GGATGAAGCAGGAGCTCAGCT	0.592											OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	237					0	0	1	0	0	A	131768629	G	A	131768629	2	1	250	1	0	0	0	0	0	0	0	1	10758	991	35	3		3	NUP188	9	131768629	Silent	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	3835191	131768629	9444802	24	10961											
KIAA1462	57608	broad.mit.edu	37	chr10	30318281	30318281	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtggagtccaaatttggtgCgcaagtgggaggatacggtg	9	9	17	6	3	0	0	0	0	0	0	1	3	1	3	1	5	2	1	1	5	3	2			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr10:30318281C>T	uc009xle.2	-	2	933	c.796G>A	c.(796-798)Gca>Aca	p.A266T	KIAA1462_uc001iux.3_Missense_Mutation_p.A266T|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.A128T	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	266	Pro-rich.							p.C265C(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AAATTTGGTGCGCAAGTGGGA	0.522													6	61					0	0	1	0	0	T	30318281	C	T	30318281	3	4	250	1	0	0	0	0	1	0	0	0	8234	768	27	1	3291	1	KIAA1462	10	30318281	Missense_Mutation	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08		30318281	105216466	25	10962											
HK1	3098	broad.mit.edu	37	chr10	71160766	71160766	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctccagaatcatgcacCagacggtgaaggaactgtca	12	8	10	11	1	3	3	2	1	1	2	4	4	3	4	2	2	2	2	2	2	3	1			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr10:71160766C>T	uc001jpl.4	+	17	2730	c.2629C>T	c.(2629-2631)Cag>Tag	p.Q877*	HK1_uc001jpg.4_Nonsense_Mutation_p.Q865*|HK1_uc001jph.4_Nonsense_Mutation_p.Q881*|HK1_uc001jpi.4_Nonsense_Mutation_p.Q881*|HK1_uc001jpj.4_Nonsense_Mutation_p.Q912*|HK1_uc001jpk.4_Nonsense_Mutation_p.Q876*	NM_000188	NP_000179	P19367	HXK1_HUMAN	Homo sapiens hexokinase 1 (HK1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	877	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						AATCATGCACCAGACGGTGAA	0.552													21	43					0	0	1	0	0	T	71160766	C	T	71160766	4	4	250	1	0	0	0	0	0	1	0	0	7190	595	21	3	2877	3	HK1	10	71160766	Nonsense_Mutation	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08	40842485	71160766	64373981	26	10963											
AMBRA1	55626	broad.mit.edu	37	chr11	46431879	46431879	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagtgaagaccgtctcgttCagctggtcccagtagtactc	9	10	10	12	2	2	2	1	1	1	1	5	2	3	2	2	1	2	4	2	1	3	3			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr11:46431879C>G	uc001ncv.2	-	17	3479	c.3165G>C	c.(3163-3165)ctG>ctC	p.L1055L	AMBRA1_uc010rgt.1_Intron|AMBRA1_uc009ylc.1_Silent_p.L1023L|AMBRA1_uc001ncu.1_Silent_p.L962L|AMBRA1_uc010rgu.1_Silent_p.L1052L|AMBRA1_uc001ncw.2_Silent_p.L933L|AMBRA1_uc001ncx.2_Silent_p.L992L	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	1052					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CCGTCTCGTTCAGCTGGTCCC	0.532													7	103					0	0	1	0	0	G	46431879	C	G	46431879	2	3	250	1	0	0	0	0	0	0	0	1	565	813	29	5		5	AMBRA1	11	46431879	Silent	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08		46431879	88574637	27	10964											
FNBP4	23360	broad.mit.edu	37	chr11	47753113	47753113	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tagaaataccgtctatgatcCctaaattacaagaaagaaaa	20	9	5	7	1	1	4	0	1	1	3	2	4	2	4	2	0	2	0	2	0	11	5			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr11:47753113C>T	uc009ylv.3	-	12	1974	c.1821_splice	c.e12-1	p.R607_splice	FNBP4_uc001ngj.3_Splice_Site_p.R514_splice|FNBP4_uc001ngl.2_Splice_Site	NM_015308	NP_056123	Q8N3X1	FNBP4_HUMAN	Homo sapiens formin binding protein 4 (FNBP4), mRNA.	607	WW 2.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GTCTATGATCCCTAAATTACA	0.438													24	28					0	0	1	0	0	T	47753113	C	T	47753113	5	4	250	1	0	0	0	0	0	0	1	0	5967	637	22	3	1256	3	FNBP4	11	47753113	Splice_Site	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08	1321234	47753113	87253403	28	10965											
OR4C13	283092	broad.mit.edu	37	chr11	49974773	49974773	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagctactttacccattgatAaagcagttgctgtattctac	11	14	6	10	0	1	1	0	1	1	0	1	1	1	1	1	0	6	5	1	0	6	9			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr11:49974773A>G	uc010rhz.2	+	0	831	c.799A>G	c.(799-801)Aaa>Gaa	p.K267E		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ACCCATTGATAAAGCAGTTGC	0.393													4	91					0	0	1	0	0	G	49974773	A	G	49974773	3	3	250	1	0	0	0	0	1	0	0	0	11047	363	13	3	801	3	OR4C13	11	49974773	Missense_Mutation	SNP	A	TCGA-HT-A614-01A-11D-A29Q-08	2221660	49974773	85031743	29	10966											
MS4A3	932	broad.mit.edu	37	chr11	59831748	59831748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caaacagttctgtagttcagGaaccttgtctgttgtagcag	10	13	10	8	0	3	0	1	0	2	0	3	1	3	1	1	1	3	6	1	1	4	6			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr11:59831748G>A	uc001nom.3	+	3	436	c.308G>A	c.(307-309)gGa>gAa	p.G103E	MS4A3_uc001non.3_Missense_Mutation_p.G57E|MS4A3_uc001noo.3_5'UTR	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA.	103						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	p.G103R(1)		endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TGTAGTTCAGGAACCTTGTCT	0.363													3	29					0	0	1	0	0	A	59831748	G	A	59831748	3	1	250	1	0	0	0	0	1	0	0	0	9861	1174	41	3	318	3	MS4A3	11	59831748	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	9856975	59831748	75174768	30	10967											
ARNTL2	56938	broad.mit.edu	37	chr12	27553705	27553705	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatttgtctatgtagatcaAaggtaaacatttacatgtta	16	15	6	4	0	2	1	1	0	1	1	2	1	2	1	0	1	2	3	0	1	8	7			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr12:27553705A>T	uc001rht.2	+	9	1377	c.1158A>T	c.(1156-1158)caA>caT	p.Q386H	ARNTL2_uc001rhu.2_Missense_Mutation_p.Q372H|ARNTL2_uc001rhv.2_Missense_Mutation_p.Q338H|ARNTL2_uc001rhw.3_Missense_Mutation_p.Q349H|ARNTL2_uc010sjp.2_Missense_Mutation_p.Q349H|ARNTL2_uc009zji.2_Missense_Mutation_p.Q352H|BC043511_uc001rhx.3_Intron	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like 2 (ARNTL2), transcript variant 1, mRNA.	386	PAS 2.				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					ATGTAGATCAAAGGTAAACAT	0.323													21	20					0	0	1	0	0	T	27553705	A	T	27553705	3	4	250	1	0	0	0	0	1	0	0	0	968	11	1	5	1196	5	ARNTL2	12	27553705	Missense_Mutation	SNP	A	TCGA-HT-A614-01A-11D-A29Q-08		27553705	106298190	31	10968											
DNAJC14	85406	broad.mit.edu	37	chr12	56222131	56222131	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttttcttttgagagttcctgGtccactcctgattcttcttc	4	20	6	11	0	3	2	0	2	3	1	7	3	6	2	3	1	0	1	3	1	0	8			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr12:56222131G>T	uc001shu.2	-	0	368	c.312C>A	c.(310-312)gaC>gaA	p.D104E	DNAJC14_uc001shx.1_Missense_Mutation_p.D104E|DNAJC14_uc009zob.1_Missense_Mutation_p.D104E|DNAJC14_uc001shy.1_Missense_Mutation_p.D104E	NM_032364	NP_115740	Q6Y2X3	DJC14_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 14 (DNAJC14), mRNA.	104					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						AGAGTTCCTGGTCCACTCCTG	0.527													9	300					0.000274275	0.000287989	1	1	0	T	56222131	G	T	56222131	3	4	250	1	0	0	0	0	1	0	0	0	4633	1252	44	5	1820	5	DNAJC14	12	56222131	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	28668426	56222131	77629764	32	10969											
NCOR2	9612	broad.mit.edu	37	chr12	124810104	124810104	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcctgcagccgcatgatcagGgggttgtaggggaatggcgt	7	8	18	8	2	1	1	1	1	0	0	1	2	1	2	2	5	2	4	2	5	2	2			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr12:124810104G>A	uc021rga.1	-	46	7527	c.7410C>T	c.(7408-7410)ccC>ccT	p.P2470P	NCOR2_uc021rgb.1_Silent_p.P2408P|NCOR2_uc010tbb.2_Silent_p.P2463P|NCOR2_uc010tbc.2_Silent_p.P2407P|NCOR2_uc021rgc.1_Silent_p.P2453P|NCOR2_uc010tax.2_Silent_p.P509P	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	2474					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCATGATCAGGGGGTTGTAGG	0.721													3	1					0	0	1	0	0	A	124810104	G	A	124810104	2	1	250	1	0	0	0	0	0	0	0	1	10236	1219	43	3		3	NCOR2	12	124810104	Silent	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	68587973	124810104	9041791	33	10970											
AKAP13	11214	broad.mit.edu	37	chr15	86076938	86076938	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgtatgatgcagctcaatTcctagcaaccagtgctggaa	12	9	10	10	1	1	1	1	1	0	0	2	2	2	2	2	1	6	5	2	1	5	3			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr15:86076938T>C	uc002blv.1	+	3	475	c.305T>C	c.(304-306)tTc>tCc	p.F102S	AKAP13_uc002bls.3_Missense_Mutation_p.F102S|AKAP13_uc002blt.1_Missense_Mutation_p.F102S|AKAP13_uc002blu.1_Missense_Mutation_p.F102S	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	102					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GCAGCTCAATTCCTAGCAACC	0.493													37	46					0	0	1	0	0	C	86076938	T	C	86076938	3	2	250	1	0	0	0	0	1	0	0	0	449	1783	62	3	315	3	AKAP13	15	86076938	Missense_Mutation	SNP	T	TCGA-HT-A614-01A-11D-A29Q-08		86076938	16454454	34	10971											
USP10	9100	broad.mit.edu	37	chr16	84778248	84778248	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttctaaacaggacaagaatAtcagagaattgagtttggtg	15	12	10	4	0	2	3	1	1	1	2	2	5	2	4	0	2	1	1	0	2	6	5			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr16:84778248A>G	uc010voe.2	+	4	424	c.173A>G	c.(172-174)tAt>tGt	p.Y58C	USP10_uc002fii.3_Missense_Mutation_p.Y54C|USP10_uc010vof.2_Intron|USP10_uc002fij.3_5'UTR	NM_005153	NP_005144	Q14694	UBP10_HUMAN	Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.	54	Interaction with p53/TP53.				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GGACAAGAATATCAGAGAATT	0.393													3	28					0	0	1	0	0	G	84778248	A	G	84778248	3	3	250	1	0	0	0	0	1	0	0	0	17038	449	16	3	175	3	USP10	16	84778248	Missense_Mutation	SNP	A	TCGA-HT-A614-01A-11D-A29Q-08		84778248	5576505	35	10972											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr17:7577120C>A	uc002gim.2	-	7	1012	c.818G>T	c.(817-819)cGt>cTt	p.R273L	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141L|TP53_uc010cnf.1_Missense_Mutation_p.R141L|TP53_uc002gii.1_Missense_Mutation_p.R141L|TP53_uc010cni.1_Missense_Mutation_p.R273L|TP53_uc010cnh.1_Missense_Mutation_p.R273L|TP53_uc002gij.2_Missense_Mutation_p.R273L|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			18	7					6.94344e-10	7.54202e-10	1	1	0	A	7577120	C	A	7577120	3	1	250	1	0	0	0	0	1	0	0	0	16378	536	19	5	468	5	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08		7577120	73618090	36	10973											
MYH4	4622	broad.mit.edu	37	chr17	10370011	10370011	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgctccttttcagactttcGgaggaaaggagcagcctccc	8	10	10	13	2	1	1	1	0	0	1	5	4	3	4	3	3	2	2	3	3	1	3			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr17:10370011G>A	uc002gmn.3	-	2	163	c.52C>T	c.(52-54)Cga>Tga	p.R18*	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	18	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCAGACTTTCGGAGGAAAGGA	0.478													14	83					0	0	1	0	0	A	10370011	G	A	10370011	4	1	250	1	0	0	0	0	0	1	0	0	10037	1124	39	2	5919	2	MYH4	17	10370011	Nonsense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	2792891	10370011	70825199	37	10974											
PIGS	94005	broad.mit.edu	37	chr17	26890508	26890508	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtcagggagccctccgcttGttcctgaggctcatctaaca	8	10	10	13	1	3	1	2	1	1	0	5	2	5	2	3	2	2	3	3	2	1	3			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr17:26890508G>T	uc002hbo.2	-	4	782	c.409C>A	c.(409-411)Caa>Aaa	p.Q137K	PIGS_uc002hbn.2_Missense_Mutation_p.Q129K|PIGS_uc010wap.1_Missense_Mutation_p.Q76K	NM_033198	NP_149975	Q96S52	PIGS_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class S (PIGS), mRNA.	137					C-terminal protein lipidation|attachment of GPI anchor to protein	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CCCTCCGCTTGTTCCTGAGGC	0.527													21	34					1.55795e-14	1.75269e-14	1	1	0	T	26890508	G	T	26890508	3	4	250	1	0	0	0	0	1	0	0	0	11898	1386	48	5	1290	5	PIGS	17	26890508	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	16520497	26890508	54304702	38	10975											
CSF3	1440	broad.mit.edu	37	chr17	38172560	38172560	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgggcatcccctgggctccCctgagcagctgccccagcca	5	6	11	19	0	0	1	0	1	0	0	2	1	2	1	7	2	4	4	7	2	0	0			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr17:38172560C>T	uc002htp.3	+	2	393	c.279C>T	c.(277-279)ccC>ccT	p.P93P	CSF3_uc002hto.3_Silent_p.P90P|CSF3_uc002htq.3_Silent_p.P86P|CSF3_uc021tww.1_Intron|CSF3_uc021twx.1_Intron|CSF3_uc010wep.2_Intron	NM_000759	NP_000750	P09919	CSF3_HUMAN	Homo sapiens colony stimulating factor 3 (granulocyte) (CSF3), transcript variant 1, mRNA.	93					cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CCTGGGCTCCCCTGAGCAGCT	0.632													8	9					0	0	1	0	0	T	38172560	C	T	38172560	2	4	250	1	0	0	0	0	0	0	0	1	3936	610	22	3		3	CSF3	17	38172560	Silent	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08	11282052	38172560	43022650	39	10976											
ANKRD30B	374860	broad.mit.edu	37	chr18	14779986	14779986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttcccatcagaatccaaacGagaggaagatgaagaatatt	17	8	9	7	1	1	5	1	1	0	4	3	7	3	6	2	1	1	1	2	1	6	3	rs76927023	byFrequency	TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr18:14779986G>A	uc010dlo.2	+	10	1628	c.1448G>A	c.(1447-1449)cGa>cAa	p.R483Q	ANKRD30B_uc010xak.2_Non-coding_Transcript|ANKRD30B_uc021uhy.1_Missense_Mutation_p.R483Q	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	483										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GAATCCAAACGAGAGGAAGAT	0.284													4	10					0	0	1	0	0	A	14779986	G	A	14779986	3	1	250	1	0	0	0	0	1	0	0	0	659	1058	37	2	1490	2	ANKRD30B	18	14779986	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08		14779986	63297262	40	10977											
SMARCA4	6597	broad.mit.edu	37	chr19	11095998	11095998	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcggacgacccgcgctacaAccagatgaaaggaatgggga	13	4	14	10	4	0	2	0	1	0	1	1	6	0	5	2	4	2	1	2	4	4	1			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr19:11095998A>G	uc010dxp.3	+	3	632	c.272A>G	c.(271-273)aAc>aGc	p.N91S	SMARCA4_uc010dxo.3_Missense_Mutation_p.N91S|SMARCA4_uc002mqf.4_Missense_Mutation_p.N91S|SMARCA4_uc002mqg.1_Missense_Mutation_p.N91S|SMARCA4_uc010dxq.3_Missense_Mutation_p.N91S|SMARCA4_uc010dxr.3_Missense_Mutation_p.N91S|SMARCA4_uc002mqj.4_Missense_Mutation_p.N91S|SMARCA4_uc010dxs.3_Missense_Mutation_p.N91S|SMARCA4_uc002mqe.2_Missense_Mutation_p.N91S	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	91	Necessary for interaction with SS18L1/CREST (By similarity).				chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGCGCTACAACCAGATGAAA	0.632			"F, N, Mis"		NSCLC								15	37					0	0	1	0	0	G	11095998	A	G	11095998	3	3	250	1	0	0	0	0	1	0	0	0	14770	43	2	3	278	3	SMARCA4	19	11095998	Missense_Mutation	SNP	A	TCGA-HT-A614-01A-11D-A29Q-08		11095998	48032985	41	10978											
SCAF1	58506	broad.mit.edu	37	chr19	50154597	50154597	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaggacttcccaggtgaCgagagcccccgcccggacgc	8	3	13	17	4	0	2	0	1	0	1	1	5	1	4	5	3	2	0	5	3	0	1			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr19:50154597C>T	uc002poq.3	+	6	1075	c.951C>T	c.(949-951)gaC>gaT	p.D317D		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	317					RNA splicing|mRNA processing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TCCCAGGTGACGAGAGCCCCC	0.697													3	14					0	0	1	0	0	T	50154597	C	T	50154597	2	4	250	1	0	0	0	0	0	0	0	1	13868	535	19	1		1	SCAF1	19	50154597	Silent	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08	39058599	50154597	8974386	42	10979											
KLK15	55554	broad.mit.edu	37	chr19	51330985	51330985	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcgccacagttaaagcGtccacgctcgtagagagcca	12	5	12	12	4	0	1	0	0	0	1	2	3	1	2	3	1	3	3	3	1	4	2	rs140896741	byFrequency	TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr19:51330985G>A	uc002ptl.3	-	1	161	c.130C>T	c.(130-132)Cgc>Tgc	p.R44C	KLK15_uc002ptm.3_Missense_Mutation_p.R44C|KLK15_uc002ptn.3_Missense_Mutation_p.R44C|KLK15_uc002pto.3_Missense_Mutation_p.R43C|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_Missense_Mutation_p.R43C|KLK15_uc010eod.3_Non-coding_Transcript	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.	44	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CAGTTAAAGCGTCCACGCTCG	0.612													17	29					0	0	1	0	0	A	51330985	G	A	51330985	3	1	250	1	0	0	0	0	1	0	0	0	8403	1145	40	1	656	1	KLK15	19	51330985	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	1176388	51330985	7797998	43	10980											
EIF2S2	8894	broad.mit.edu	37	chr20	32684527	32684527	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcctactcggacgacttgtgGaggtttcatgacaaatttcc	9	13	9	10	2	1	1	1	1	0	0	4	4	3	3	2	3	1	1	2	3	2	4			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr20:32684527G>C	uc002xaf.3	-	5	788	c.619C>G	c.(619-621)Cca>Gca	p.P207A		NM_003908	NP_003899	P20042	IF2B_HUMAN	Homo sapiens eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa (EIF2S2), mRNA.	207						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						ACGACTTGTGGAGGTTTCATG	0.388													4	106					0	0	1	0	0	C	32684527	G	C	32684527	3	2	250	1	0	0	0	0	1	0	0	0	5010	1174	41	5	398	5	EIF2S2	20	32684527	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08		32684527	30340993	44	10981											
UBE2G2	7327	broad.mit.edu	37	chr21	46207992	46207992	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacctgctacaattccttccGgaggattcagtgttaattct	9	15	7	10	1	2	0	1	0	1	0	4	2	4	2	3	2	3	2	3	2	4	7			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr21:46207992G>A	uc002zfy.3	-	1	150	c.62C>T	c.(61-63)cCg>cTg	p.P21L	UBE2G2_uc002zfx.3_5'UTR|UBE2G2_uc021wjt.1_Intron	NM_003343	NP_001189418	P60604	UB2G2_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2G 2 (UBE2G2), transcript variant 1, mRNA.	21					protein K48-linked ubiquitination	cytosol	ATP binding|protein binding|ubiquitin-protein ligase activity	p.P21S(1)		breast(3)|central_nervous_system(1)|lung(1)	5				Colorectal(79;0.0638)		AATTCCTTCCGGAGGATTCAG	0.269													12	19					0	0	1	0	0	A	46207992	G	A	46207992	3	1	250	1	0	0	0	0	1	0	0	0	16854	1116	39	2	455	2	UBE2G2	21	46207992	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08		46207992	1921903	45	10982											
FAAH2	158584	broad.mit.edu	37	chrX	57358192	57358192	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtaacaagatctatggcCgatcaaacaacccatatgat	16	8	6	11	1	2	2	1	1	1	1	2	3	2	2	3	1	3	1	3	1	6	3			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chrX:57358192C>T	uc004dvc.3	+	3	723	c.574C>T	c.(574-576)Cga>Tga	p.R192*		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA.	192						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GATCTATGGCCGATCAAACAA	0.403										HNSCC(52;0.14)			43	12					0	0	1	0	0	T	57358192	C	T	57358192	4	4	250	1	0	0	0	0	0	1	0	0	5354	644	23	2	588	2	FAAH2	23	57358192	Nonsense_Mutation	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08		57358192	97912368	46	10983											
ATRX	546	broad.mit.edu	37	chrX	76938920	76938920	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatagccatctttatcttGtggaacttcctgacaatcag	10	16	6	9	0	3	1	1	1	2	0	4	2	4	2	2	1	2	0	2	1	5	7			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chrX:76938920G>A	uc004ecp.4	-	8	2060	c.1828C>T	c.(1828-1830)Caa>Taa	p.Q610*	ATRX_uc004ecq.4_Nonsense_Mutation_p.Q572*|ATRX_uc004eco.4_Nonsense_Mutation_p.Q395*|ATRX_uc004ecr.2_Nonsense_Mutation_p.Q542*|ATRX_uc010nlx.1_Nonsense_Mutation_p.Q581*|ATRX_uc010nly.1_Nonsense_Mutation_p.Q555*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	610					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCTTTATCTTGTGGAACTTCC	0.358			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						102	36					0	0	1	0	0	A	76938920	G	A	76938920	4	1	250	1	0	0	0	0	0	1	0	0	1208	1386	48	3	5758	3	ATRX	23	76938920	Nonsense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	19580728	76938920	78331640	47	10984											
SPEN	23013	broad.mit.edu	37	chr1	16174599	16174599	+	Frame_Shift_Del	DEL	T	T	-																															ggcatctctgggtgggcaacTtacccgagaacgtgcgggaa																										TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr1:16174599delT	uc001axk.1	+	0	241	c.37delT	c.(37-39)ttafs	p.L13fs	FLJ37453_uc001axj.2_Intron	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	13	RRM 1.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGTGGGCAACTTACCCGAGAA	0.687													2	4	---	---	---	---						-	16174599	T	-	16174599	7	5	251	1	0	1	0	1	0	0	0	0	15037	1606	56	0	39	0	SPEN	1	16174599	Frame_Shift_Del	DEL	T	TCGA-HT-A615-01A-11D-A29Q-08		16174599	233076022	1	10985											
FUBP1	8880	broad.mit.edu	37	chr1	78444597	78444597	+	Frame_Shift_Del	DEL	A	A	-																															ctctctgcagtgcatctttgAaagcgtcgttaactcctcca																										TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr1:78444597delA	uc001dii.3	-	0	181	c.92delT	c.(91-93)ttcfs	p.F31fs	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Frame_Shift_Del_p.F31fs|DNAJB4_uc010orn.2_5'Flank	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	31					transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TGCATCTTTGAAAGCGTCGTT	0.612			"F, N"		oligodendroglioma								77	72	---	---	---	---						-	78444597	A	-	78444597	7	5	251	1	0	1	0	1	0	0	0	0	6092	246	9	0	1922	0	FUBP1	1	78444597	Frame_Shift_Del	DEL	A	TCGA-HT-A615-01A-11D-A29Q-08	62269998	78444597	170806024	2	10986											
INTS3	65123	broad.mit.edu	37	chr1	153730172	153730172	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggggtagtccacccttctaAtgaagtactgagttcagata	11	12	10	8	0	2	3	1	2	1	1	3	3	3	3	2	2	1	3	2	2	5	6			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr1:153730172A>G	uc009wom.3	+	10	1303	c.1082A>G	c.(1081-1083)aAt>aGt	p.N361S	INTS3_uc001fct.3_Missense_Mutation_p.N361S|INTS3_uc001fcu.3_Missense_Mutation_p.N53S|INTS3_uc001fcv.3_Missense_Mutation_p.N155S|INTS3_uc010peb.2_Missense_Mutation_p.N155S|INTS3_uc001fcw.3_5'UTR|INTS3_uc010pec.2_5'UTR	NM_023015	NP_075391	Q68E01	INT3_HUMAN	Homo sapiens integrator complex subunit 3 (INTS3), mRNA.	362					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	SOSS complex|integrator complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CACCCTTCTAATGAAGTACTG	0.527													7	90					0	0	1	0	0	G	153730172	A	G	153730172	3	3	251	1	0	0	0	0	1	0	0	0	7779	101	4	3	1120	3	INTS3	1	153730172	Missense_Mutation	SNP	A	TCGA-HT-A615-01A-11D-A29Q-08	75285575	153730172	95520449	3	10987											
SPTA1	6708	broad.mit.edu	37	chr1	158612230	158612230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcttcattgccatcacaagCgctacactcaatcagggagt	11	10	7	13	1	5	0	4	0	1	0	5	1	5	1	1	1	3	1	1	1	3	3			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr1:158612230C>T	uc001fst.1	-	32	4907	c.4708G>A	c.(4708-4710)Gct>Act	p.A1570T		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1570				Missing (in Ref. 1; AAA60577/AAA60994 and 7; AAA60569).	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCATCACAAGCGCTACACTCA	0.453													21	75					0	0	1	0	0	T	158612230	C	T	158612230	3	4	251	1	0	0	0	0	1	0	0	0	15115	768	27	1	2631	1	SPTA1	1	158612230	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	4882058	158612230	90638391	4	10988											
HMCN1	83872	broad.mit.edu	37	chr1	186106054	186106054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttctgtccttgtcagagtgCcagtcatagtccagggtgag	7	12	13	9	0	3	2	2	1	1	1	5	2	5	2	3	1	1	1	3	1	1	3			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr1:186106054C>T	uc001grq.1	+	86	13796	c.13567C>T	c.(13567-13569)Cca>Tca	p.P4523S	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.P92S	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4523	Ig-like C2-type 44.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTCAGAGTGCCAGTCATAGT	0.398													4	122					0	0	1	0	0	T	186106054	C	T	186106054	3	4	251	1	0	0	0	0	1	0	0	0	7220	739	26	3	13913	3	HMCN1	1	186106054	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	27493824	186106054	63144567	5	10989											
CDC73	79577	broad.mit.edu	37	chr1	193111017	193111017	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcagtggaaaaaattgctGcaatcaaagccaaaattatg	17	10	8	6	0	2	0	2	0	0	0	2	1	2	1	1	1	3	2	1	1	8	2			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr1:193111017G>C	uc001gtb.3	+	6	793	c.550G>C	c.(550-552)Gca>Cca	p.A184P		NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	Homo sapiens cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CDC73), mRNA.	184				AIKA -> CNQT (in Ref. 2; BAB15608).	cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						AAAAATTGCTGCAATCAAAGC	0.348													8	11					0	0	1	0	0	C	193111017	G	C	193111017	3	2	251	1	0	0	0	0	1	0	0	0	3085	1319	46	5	576	5	CDC73	1	193111017	Missense_Mutation	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08	7004963	193111017	56139604	6	10990											
URB2	9816	broad.mit.edu	37	chr1	229772950	229772950	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaaagctggacccgaaggtAtagaacctagaggagaaatt	17	6	11	7	1	0	3	0	0	0	3	0	6	0	4	2	3	2	2	2	3	8	4			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr1:229772950A>G	uc001hts.1	+	3	2726	c.2590A>G	c.(2590-2592)Ata>Gta	p.I864V	URB2_uc009xfd.1_Missense_Mutation_p.I864V	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	864						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						ACCCGAAGGTATAGAACCTAG	0.502													39	70					0	0	1	0	0	G	229772950	A	G	229772950	3	3	251	1	0	0	0	0	1	0	0	0	17022	449	16	3	2600	3	URB2	1	229772950	Missense_Mutation	SNP	A	TCGA-HT-A615-01A-11D-A29Q-08	36661933	229772950	19477671	7	10991											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								19	37					0	0	1	0	0	T	209113112	C	T	209113112	3	4	251	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		209113112	34086261	8	10992											
STK36	27148	broad.mit.edu	37	chr2	219544418	219544418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctcgcatcttgactcaggCctataaacgcatggctgagg	9	10	11	11	2	3	2	1	2	2	0	4	2	3	2	1	3	1	3	1	3	3	3			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr2:219544418C>T	uc002viu.3	+	7	1193	c.914C>T	c.(913-915)gCc>gTc	p.A305V	STK36_uc002viv.3_Missense_Mutation_p.A305V	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA.	305					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TTGACTCAGGCCTATAAACGC	0.557													19	48					0	0	1	0	0	T	219544418	C	T	219544418	3	4	251	1	0	0	0	0	1	0	0	0	15301	739	26	3	940	3	STK36	2	219544418	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	10431306	219544418	23654955	9	10993											
ARMC9	80210	broad.mit.edu	37	chr2	232135764	232135764	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatggccaggctcatcaatGcttttgcgtcactggcagaa	10	10	10	11	1	3	1	3	0	0	1	3	1	3	1	1	3	2	3	1	3	2	2			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr2:232135764G>C	uc002vrq.4	+	12	1301	c.1189G>C	c.(1189-1191)Gct>Cct	p.A397P	ARMC9_uc002vrp.4_Missense_Mutation_p.A397P|ARMC9_uc002vrr.1_Non-coding_Transcript	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	Homo sapiens armadillo repeat containing 9 (ARMC9), mRNA.	397							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GCTCATCAATGCTTTTGCGTC	0.493													12	33					0	0	1	0	0	C	232135764	G	C	232135764	3	2	251	1	0	0	0	0	1	0	0	0	958	1319	46	5	1235	5	ARMC9	2	232135764	Missense_Mutation	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08	12591346	232135764	11063609	10	10994											
CD96	10225	broad.mit.edu	37	chr3	111319659	111319659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caagggtacatagtaataaaCcagcccaatcagacaacttg	17	7	7	10	0	1	1	1	0	0	1	1	1	1	1	2	1	4	2	2	1	8	5			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr3:111319659C>T	uc003dxw.3	+	7	1203	c.1033C>T	c.(1033-1035)Cca>Tca	p.P345S	CD96_uc003dxv.3_Missense_Mutation_p.P329S|CD96_uc003dxx.3_Missense_Mutation_p.P329S|CD96_uc010hpy.1_Missense_Mutation_p.P329S	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	345	Ig-like C2-type.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TAGTAATAAACCAGCCCAATC	0.378									Opitz Trigonocephaly syndrome				18	42					0	0	1	0	0	T	111319659	C	T	111319659	3	4	251	1	0	0	0	0	1	0	0	0	3048	507	18	3	1063	3	CD96	3	111319659	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		111319659	86702771	11	10995											
PPM1L	151742	broad.mit.edu	37	chr3	160786805	160786805	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagcaatgaagaagcagttCgattcatcaaggagcgcttg	13	9	11	8	2	3	2	3	1	0	1	4	4	3	3	0	1	3	4	0	1	4	3			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr3:160786805C>T	uc003fdr.3	+	3	1044	c.943C>T	c.(943-945)Cga>Tga	p.R315*	PPM1L_uc003fds.3_Nonsense_Mutation_p.R136*|PPM1L_uc003fdt.3_Nonsense_Mutation_p.R188*|PPM1L_uc010hwf.3_Non-coding_Transcript	NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1L (PPM1L), mRNA.	315	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	p.R315*(2)|p.R136*(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AGAAGCAGTTCGATTCATCAA	0.473													4	96					0	0	1	0	0	T	160786805	C	T	160786805	4	4	251	1	0	0	0	0	0	1	0	0	12344	876	31	2	957	2	PPM1L	3	160786805	Nonsense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	49467146	160786805	37235625	12	10996											
SLIT2	9353	broad.mit.edu	37	chr4	20618726	20618726	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcccatggcacatgccaGcccagcagccaggcaggctt	8	6	12	15	0	0	0	0	0	0	0	0	0	0	0	4	3	5	4	4	3	0	1			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr4:20618726G>A	uc003gpr.1	+	34	4245	c.4041G>A	c.(4039-4041)caG>caA	p.Q1347Q	SLIT2_uc003gps.1_Silent_p.Q1339Q	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1347	EGF-like 7.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCACATGCCAGCCCAGCAGCC	0.577													7	72					0	0	1	0	0	A	20618726	G	A	20618726	2	1	251	1	0	0	0	0	0	0	0	1	14740	962	34	3		3	SLIT2	4	20618726	Silent	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08		20618726	170535550	13	10997											
ATP8A1	10396	broad.mit.edu	37	chr4	42414962	42414962	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcgggcctctgtttcgtggTatcatatgctcttatcactt	5	17	9	10	2	4	0	2	0	2	0	6	0	4	0	1	2	1	3	1	2	3	5			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr4:42414962T>C	uc003gwr.2	-	36	3698	c.3466A>G	c.(3466-3468)Acc>Gcc	p.T1156A	ATP8A1_uc003gwq.2_Missense_Mutation_p.T382A|ATP8A1_uc003gws.2_Missense_Mutation_p.T1141A|ATP8A1_uc021xnv.1_5'Flank	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	1156					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TGTTTCGTGGTATCATATGCT	0.463													10	38					0	0	1	0	0	C	42414962	T	C	42414962	3	2	251	1	0	0	0	0	1	0	0	0	1192	1638	57	3	32	3	ATP8A1	4	42414962	Missense_Mutation	SNP	T	TCGA-HT-A615-01A-11D-A29Q-08	21796236	42414962	148739314	14	10998											
FAT4	79633	broad.mit.edu	37	chr4	126373545	126373545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcaaagagatccttctcCggcagagtggagtaaaggtg	12	8	13	8	1	2	2	1	0	1	2	4	4	3	3	2	3	0	3	2	3	3	2			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr4:126373545C>T	uc003ifj.4	+	8	11374	c.11374C>T	c.(11374-11376)Cgg>Tgg	p.R3792W	FAT4_uc011cgp.2_Missense_Mutation_p.R2090W|FAT4_uc003ifi.1_Missense_Mutation_p.R1270W	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3792					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GATCCTTCTCCGGCAGAGTGG	0.483													18	55					0	0	1	0	0	T	126373545	C	T	126373545	3	4	251	1	0	0	0	0	1	0	0	0	5692	643	23	2	11408	2	FAT4	4	126373545	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	83958583	126373545	64780731	15	10999											
TERT	7015	broad.mit.edu	37	chr5	1294250	1294250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcccaggacccctgcccaaCgggcgtccgctccggctcag	5	4	13	19	4	1	0	1	0	0	0	3	1	3	1	6	4	2	2	6	4	1	0			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr5:1294250C>T	uc003jcb.1	-	1	809	c.751G>A	c.(751-753)Gtt>Att	p.V251I	TERT_uc003jcc.1_Missense_Mutation_p.V251I|TERT_uc003jca.1_Missense_Mutation_p.V251I|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Intron	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	251	Linker.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCCTGCCCAACGGGCGTCCGC	0.726									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				6	8					0	0	1	0	0	T	1294250	C	T	1294250	3	4	251	1	0	0	0	0	1	0	0	0	15761	536	19	1	2707	1	TERT	5	1294250	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		1294250	179621010	16	11000											
KIF4B	285643	broad.mit.edu	37	chr5	154395557	154395557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcagcagctgccaacaagcGactcaaggatgctctccaga	12	5	11	13	1	2	1	1	0	1	1	3	3	2	2	2	2	6	4	2	2	3	0			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr5:154395557G>A	uc010jih.1	+	0	2298	c.2138G>A	c.(2137-2139)cGa>cAa	p.R713Q		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	713	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.G748V(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCAACAAGCGACTCAAGGAT	0.483													28	72					0	0	1	0	0	A	154395557	G	A	154395557	3	1	251	1	0	0	0	0	1	0	0	0	8304	1058	37	2	2140	2	KIF4B	5	154395557	Missense_Mutation	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08	153101307	154395557	26519703	17	11001											
GPRC6A	222545	broad.mit.edu	37	chr6	117130562	117130562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctatgacagccttaactcttGgcatgtagctggaatagtca	11	12	9	9	0	2	1	1	1	1	0	2	2	2	2	1	2	3	3	1	2	5	5			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr6:117130562G>A	uc003pxj.1	-	1	435	c.413C>T	c.(412-414)cCa>cTa	p.P138L	GPRC6A_uc003pxk.1_Missense_Mutation_p.P138L|GPRC6A_uc003pxl.1_Missense_Mutation_p.P138L	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	138					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CTTAACTCTTGGCATGTAGCT	0.443													13	37					0	0	1	0	0	A	117130562	G	A	117130562	3	1	251	1	0	0	0	0	1	0	0	0	6728	1348	47	3	2387	3	GPRC6A	6	117130562	Missense_Mutation	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08		117130562	53984505	18	11002											
CLIP2	7461	broad.mit.edu	37	chr7	73770855	73770855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaccaagcgtatggccatgGgtgtgtcagcactgacccac	10	7	12	12	1	1	2	1	1	0	1	1	2	1	2	3	2	2	2	3	2	2	1			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr7:73770855G>A	uc003uam.3	+	4	1246	c.919G>A	c.(919-921)Ggt>Agt	p.G307S	CLIP2_uc003uan.3_Missense_Mutation_p.G307S	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	307						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TATGGCCATGGGTGTGTCAGC	0.617													26	66					0	0	1	0	0	A	73770855	G	A	73770855	3	1	251	1	0	0	0	0	1	0	0	0	3533	1232	43	3	933	3	CLIP2	7	73770855	Missense_Mutation	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08		73770855	85367808	19	11003											
BLK	640	broad.mit.edu	37	chr8	11400849	11400849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggacgccccgccactgcCgcccctggtgagtgattgcc	6	6	12	17	3	0	2	0	2	0	0	0	3	0	3	7	2	2	0	7	2	1	1	rs142352008	byFrequency	TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr8:11400849C>T	uc003wty.3	+	1	697	c.116C>T	c.(115-117)cCg>cTg	p.P39L		NM_001715	NP_001706	P51451	BLK_HUMAN	Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.	39					intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CCGCCACTGCCGCCCCTGGTG	0.532													17	17					0	0	1	0	0	T	11400849	C	T	11400849	3	4	251	1	0	0	0	0	1	0	0	0	1444	652	23	2	118	2	BLK	8	11400849	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		11400849	134963173	20	11004											
API5	8539	broad.mit.edu	37	chr11	43343605	43343605	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agagaacgagcaattaaattCctttctacaaaacttaagac	18	10	5	8	1	1	2	0	0	1	2	2	4	2	2	1	0	4	1	1	0	8	5			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr11:43343605C>T	uc010rfh.1	+	4	635	c.462C>T	c.(460-462)ttC>ttT	p.F154F	API5_uc001mxf.2_Silent_p.F154F|API5_uc010rfg.1_Silent_p.F143F|API5_uc010rfi.1_Silent_p.F100F|API5_uc021qgi.1_Intron|API5_uc001mxg.3_Silent_p.F28F	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN	Homo sapiens apoptosis inhibitor 5 (API5), transcript variant 1, mRNA.	154					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	p.K153N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						CAATTAAATTCCTTTCTACAA	0.378													20	46					0	0	1	0	0	T	43343605	C	T	43343605	2	4	251	1	0	0	0	0	0	0	0	1	773	854	30	3		3	API5	11	43343605	Silent	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		43343605	91662911	21	11005											
CRY2	1408	broad.mit.edu	37	chr11	45891723	45891723	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tactgccctgtgggctttggCcgtcgcacggaccccagtgg	4	9	14	14	3	0	0	0	0	0	0	1	1	0	1	4	4	2	2	4	4	1	2			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr11:45891723C>T	uc010rgn.2	+	7	1399	c.1377C>T	c.(1375-1377)ggC>ggT	p.G459G	CRY2_uc009ykw.3_Silent_p.G377G|CRY2_uc010rgo.2_Silent_p.G181G	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN	Homo sapiens cryptochrome 2 (photolyase-like) (CRY2), transcript variant 1, mRNA.	438	FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity).				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA photolyase activity|blue light photoreceptor activity|damaged DNA binding|nucleotide binding|protein binding|single-stranded DNA binding	p.G438G(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						TGGGCTTTGGCCGTCGCACGG	0.587													4	101					0	0	1	0	0	T	45891723	C	T	45891723	2	4	251	1	0	0	0	0	0	0	0	1	3904	726	26	3		3	CRY2	11	45891723	Silent	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	2548118	45891723	89114793	22	11006											
OR4X1	390113	broad.mit.edu	37	chr11	48285528	48285528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtacacagctgttgtgctggGcaatggcctcattgtggtga	7	12	14	8	0	1	1	1	1	0	0	1	1	1	1	1	3	3	5	1	3	2	3			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr11:48285528G>A	uc010rht.2	+	0	116	c.116G>A	c.(115-117)gGc>gAc	p.G39D		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GTTGTGCTGGGCAATGGCCTC	0.463													11	30					0	0	1	0	0	A	48285528	G	A	48285528	3	1	251	1	0	0	0	0	1	0	0	0	11084	1203	42	3	118	3	OR4X1	11	48285528	Missense_Mutation	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08	2393805	48285528	86720988	23	11007											
MYO7A	4647	broad.mit.edu	37	chr11	76873968	76873968	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccaactacatcccccccAagaacaaccatgagacccag	15	3	5	18	1	0	2	0	1	0	2	1	3	1	2	6	0	4	0	6	0	5	1			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr11:76873968A>G	uc001oyb.2	+	13	1896	c.1624A>G	c.(1624-1626)Aag>Gag	p.K542E	MYO7A_uc010rsl.2_Missense_Mutation_p.K542E|MYO7A_uc010rsm.1_Missense_Mutation_p.K531E|MYO7A_uc001oyc.2_Missense_Mutation_p.K542E	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	542	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.K542fs*80(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CATCCCCCCCAAGAACAACCA	0.567													97	156					0	0	1	0	0	G	76873968	A	G	76873968	3	3	251	1	0	0	0	0	1	0	0	0	10082	131	5	3	1674	3	MYO7A	11	76873968	Missense_Mutation	SNP	A	TCGA-HT-A615-01A-11D-A29Q-08	28588440	76873968	58132548	24	11008											
SSH1	54434	broad.mit.edu	37	chr12	109183011	109183011	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgttaaggatcccaaataTagcatcatcctgcaaggaag	14	11	8	8	0	1	0	1	0	0	0	3	2	3	2	2	2	2	3	2	2	6	4			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr12:109183011T>C	uc001tnm.3	-	14	1990	c.1903A>G	c.(1903-1905)Ata>Gta	p.I635V	SSH1_uc001tnl.3_Missense_Mutation_p.I323V	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA.	635					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATCCCAAATATAGCATCATCC	0.547													4	12					0	0	1	0	0	C	109183011	T	C	109183011	3	2	251	1	0	0	0	0	1	0	0	0	15183	1406	49	3	1250	3	SSH1	12	109183011	Missense_Mutation	SNP	T	TCGA-HT-A615-01A-11D-A29Q-08		109183011	24668884	25	11009											
POSTN	10631	broad.mit.edu	37	chr13	38171320	38171320	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaaaaaaaagagacttaCgttttctgtccacagatgga	17	10	8	6	1	1	3	0	1	1	2	2	5	2	4	1	1	1	1	1	1	6	3			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr13:38171320C>T	uc001uwo.4	-	2	336	c.218_splice	c.e2+1	p.T73_splice	POSTN_uc001uwp.4_Splice_Site_p.T73_splice|POSTN_uc001uwr.3_Splice_Site_p.T73_splice|POSTN_uc001uwq.3_Splice_Site_p.T73_splice|POSTN_uc010teu.1_Splice_Site_p.T73_splice|POSTN_uc010tev.1_Splice_Site_p.T73_splice|POSTN_uc010tew.1_Splice_Site_p.T73_splice|POSTN_uc010tex.1_Splice_Site	NM_006475	NP_006466	Q15063	POSTN_HUMAN	Homo sapiens periostin, osteoblast specific factor (POSTN), transcript variant 1, mRNA.	73	EMI.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		AAGAGACTTACGTTTTCTGTC	0.378													10	13					0	0	1	0	0	T	38171320	C	T	38171320	5	4	251	1	0	0	0	0	0	0	1	0	12259	550	19	1	2379	1	POSTN	13	38171320	Splice_Site	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		38171320	76998558	26	11010											
SYNM	23336	broad.mit.edu	37	chr15	99673043	99673043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggttcctggagagacgCggacagtaggaatgaccagg	10	6	16	9	3	0	2	0	1	0	1	1	6	1	5	3	5	0	2	3	5	2	2			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr15:99673043C>T	uc002bup.3	+	4	4595	c.4475C>T	c.(4474-4476)gCg>gTg	p.A1492V	SYNM_uc002buo.3_Missense_Mutation_p.A1180V|SYNM_uc002buq.3_Non-coding_Transcript	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	1493	Interaction with DMD and UTRN.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						TGGAGAGACGCGGACAGTAGG	0.572													4	125					0	0	1	0	0	T	99673043	C	T	99673043	3	4	251	1	0	0	0	0	1	0	0	0	15452	768	27	1	4491	1	SYNM	15	99673043	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		99673043	2858349	27	11011											
PPL	5493	broad.mit.edu	37	chr16	4944606	4944606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggtgtagctgtagcccCgcgagatcaggccctggcgg	6	6	17	12	3	1	1	1	0	0	1	1	2	1	1	3	4	2	4	3	4	2	2			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr16:4944606C>T	uc002cyd.1	-	11	1346	c.1256G>A	c.(1255-1257)cGg>cAg	p.R419Q		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	419					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCTGTAGCCCCGCGAGATCAG	0.647													18	45					0	0	1	0	0	T	4944606	C	T	4944606	3	4	251	1	0	0	0	0	1	0	0	0	12334	652	23	2	4058	2	PPL	16	4944606	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		4944606	85410147	28	11012											
CDYL2	124359	broad.mit.edu	37	chr16	80718589	80718589	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgtccccattttccatcccGttctgagactttttcagggg	5	14	9	13	2	2	1	1	1	1	1	5	2	5	1	4	2	0	1	4	2	0	5	rs140729164		TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr16:80718589G>A	uc002ffs.3	-	1	567	c.462C>T	c.(460-462)aaC>aaT	p.N154N		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	154						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TTTCCATCCCGTTCTGAGACT	0.532													23	73					0	0	1	0	0	A	80718589	G	A	80718589	2	1	251	1	0	0	0	0	0	0	0	1	3186	1136	40	1		1	CDYL2	16	80718589	Silent	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08	75773983	80718589	9636164	29	11013											
MRM1	79922	broad.mit.edu	37	chr17	34958397	34958397	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctcggctggagcttctgtTtggcatgaccccgtgtctcc	3	13	11	14	2	3	1	0	1	3	0	5	2	3	2	3	3	1	4	3	3	0	2			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr17:34958397T>C	uc002hne.3	+	0	373	c.158T>C	c.(157-159)tTt>tCt	p.F53S	MRM1_uc002hnf.3_5'UTR	NM_024864	NP_079140	Q6IN84	MRM1_HUMAN	Homo sapiens mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae) (MRM1), nuclear gene encoding mitochondrial protein, mRNA.	53					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		GAGCTTCTGTTTGGCATGACC	0.692													45	102					0	0	1	0	0	C	34958397	T	C	34958397	3	2	251	1	0	0	0	0	1	0	0	0	9771	1841	64	3	160	3	MRM1	17	34958397	Missense_Mutation	SNP	T	TCGA-HT-A615-01A-11D-A29Q-08		34958397	46236813	30	11014											
CBLC	23624	broad.mit.edu	37	chr19	45284225	45284225	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcagagctgcacgcactcttCcccgggggaaagtactgtgg	8	7	14	12	2	1	1	0	0	1	1	2	2	2	2	2	3	3	5	2	3	2	2			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr19:45284225C>T	uc002ozs.3	+	1	480	c.417C>T	c.(415-417)ttC>ttT	p.F139F	CBLC_uc010ejt.3_Silent_p.F139F	NM_012116	NP_036248	Q9ULV8	CBLC_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence c (CBLC), transcript variant 1, mRNA.	139	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|negative regulation of MAP kinase activity|negative regulation of epidermal growth factor receptor activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	SH3 domain binding|calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				ACGCACTCTTCCCCGGGGGAA	0.617			M		AML								28	31					0	0	1	0	0	T	45284225	C	T	45284225	2	4	251	1	0	0	0	0	0	0	0	1	2702	854	30	3		3	CBLC	19	45284225	Silent	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		45284225	13844758	31	11015											
NLRP5	126206	broad.mit.edu	37	chr19	56515295	56515295	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaatcttcagaatcgacCacatgctctattccacagtt	14	11	5	11	1	3	2	1	0	2	2	5	3	4	2	2	0	1	2	2	0	4	4			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr19:56515295C>T	uc002qmj.3	+	1	276	c.276C>T	c.(274-276)acC>acT	p.T92T	NLRP5_uc002qmi.3_Silent_p.T92T	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	92	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CAGAATCGACCACATGCTCTA	0.453													17	18					0	0	1	0	0	T	56515295	C	T	56515295	2	4	251	1	0	0	0	0	0	0	0	1	10480	581	21	3		3	NLRP5	19	56515295	Silent	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	11231070	56515295	2613688	32	11016											
ARHGAP6	395	broad.mit.edu	37	chrX	11174686	11174686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctgagtaaatagtccaCgacatcaggatcggtctcta	11	12	8	10	2	4	1	1	1	3	0	7	3	5	2	1	2	0	1	1	2	4	4			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:11174686C>T	uc004cup.1	-	9	2743	c.1870G>A	c.(1870-1872)Gtg>Atg	p.V624M	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Missense_Mutation_p.V624M|ARHGAP6_uc004cum.1_Missense_Mutation_p.V421M|ARHGAP6_uc004cun.1_Missense_Mutation_p.V444M|ARHGAP6_uc010neb.1_Missense_Mutation_p.V446M|ARHGAP6_uc011mif.1_Missense_Mutation_p.V421M	NM_013427	NP_038286	O43182	RHG06_HUMAN	Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.	624					Rho protein signal transduction|actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly	actin filament|cytosol	Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity|phospholipase activator activity|phospholipase binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AAATAGTCCACGACATCAGGA	0.443													11	23					0	0	1	0	0	T	11174686	C	T	11174686	3	4	251	1	0	0	0	0	1	0	0	0	887	536	19	1	1192	1	ARHGAP6	23	11174686	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		11174686	144095874	33	11017											
GRPR	2925	broad.mit.edu	37	chrX	16142351	16142351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacctgctcctcctaataaCgtgtgctccagtggatgcca	9	10	9	13	1	0	1	0	0	0	1	3	2	3	2	5	1	4	2	5	1	2	2			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:16142351C>T	uc004cxj.3	+	0	928	c.275C>T	c.(274-276)aCg>aTg	p.T92M		NM_005314	NP_005305	P30550	GRPR_HUMAN	Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA.	92					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CTCCTAATAACGTGTGCTCCA	0.488											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	54	98					0	0	1	0	0	T	16142351	C	T	16142351	3	4	251	1	0	0	0	0	1	0	0	0	6808	536	19	1	277	1	GRPR	23	16142351	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	4967665	16142351	139128209	34	11018											
ZNF645	158506	broad.mit.edu	37	chrX	22291550	22291550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgaaaacaagttaccagcGcttcgcttgaaaaagttcgt	13	10	8	10	4	0	1	0	1	0	0	3	2	0	1	1	0	3	4	1	0	6	4			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:22291550G>A	uc004dai.2	+	0	521	c.442G>A	c.(442-444)Gct>Act	p.A148T		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	Homo sapiens zinc finger protein 645 (ZNF645), mRNA.	148						intracellular	zinc ion binding	p.S147R(1)		cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						AGTTACCAGCGCTTCGCTTGA	0.438													39	55					0	0	1	0	0	A	22291550	G	A	22291550	3	1	251	1	0	0	0	0	1	0	0	0	18058	1087	38	1	444	1	ZNF645	23	22291550	Missense_Mutation	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08	6149199	22291550	132979010	35	11019											
GPR34	2857	broad.mit.edu	37	chrX	41555137	41555137	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtatttctgggtattcaccGtaaaagaaattccattcaaa	14	14	6	7	1	3	1	2	0	1	1	4	1	4	1	2	1	0	3	2	1	6	7			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:41555137G>A	uc022bvc.1	+	0	251	c.251G>A	c.(250-252)cGt>cAt	p.R84H	CASK_uc004dfl.4_Intron|CASK_uc004dfm.4_Intron|CASK_uc004dfn.4_Intron|GPR34_uc004dfp.4_Missense_Mutation_p.R84H|GPR34_uc004dfq.4_Missense_Mutation_p.R84H|GPR34_uc010nhg.3_Missense_Mutation_p.R84H|GPR34_uc004dfr.4_Missense_Mutation_p.R84H	NM_005300	NP_005291	Q9UPC5	GPR34_HUMAN	Homo sapiens G protein-coupled receptor 34 (GPR34), transcript variant 1, mRNA.	84						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.R84H(2)		breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						GGTATTCACCGTAAAAGAAAT	0.383													4	126					0	0	1	0	0	A	41555137	G	A	41555137	3	1	251	1	0	0	0	0	1	0	0	0	6689	1145	40	1	253	1	GPR34	23	41555137	Missense_Mutation	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08	19263587	41555137	113715423	36	11020											
GRIPAP1	56850	broad.mit.edu	37	chrX	48830666	48830666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgcactccttgctgagcCgcacaatttcctgggacaga	9	8	9	15	2	0	2	0	1	0	1	2	3	2	3	4	1	2	3	4	1	1	2			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:48830666C>T	uc004dly.1	-	25	2500	c.2465G>A	c.(2464-2466)cGg>cAg	p.R822Q	KCND1_uc004dlx.1_5'Flank	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	Homo sapiens GRIP1 associated protein 1 (GRIPAP1), transcript variant 1, mRNA.	822						early endosome		p.R465Q(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CTTGCTGAGCCGCACAATTTC	0.567													9	24					0	0	1	0	0	T	48830666	C	T	48830666	3	4	251	1	0	0	0	0	1	0	0	0	6789	652	23	2	64	2	GRIPAP1	23	48830666	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	7275529	48830666	106439894	37	11021											
ZC4H2	55906	broad.mit.edu	37	chrX	64139085	64139085	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttctgcttctcaaagtaaCtttggagatgagagacactg	11	13	9	8	0	2	3	1	1	2	2	3	5	2	3	0	1	2	2	0	1	2	4			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:64139085C>A	uc004dvu.3	-	4	555	c.399_splice	c.e4-1	p.D133_splice	ZC4H2_uc004dvv.3_Splice_Site_p.D110_splice|ZC4H2_uc022byd.1_Splice_Site_p.D110_splice|ZC4H2_uc022byc.1_Splice_Site_p.D110_splice|ZC4H2_uc011mow.2_Intron|ZC4H2_uc011mov.2_Splice_Site_p.D110_splice|ZC4H2_uc004dvw.2_3'UTR	NM_018684	NP_001230733	Q9NQZ6	ZC4H2_HUMAN	Homo sapiens zinc finger, C4H2 domain containing (ZC4H2), transcript variant 1, mRNA.	133							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTCAAAGTAACTTTGGAGATG	0.532													21	49					7.87624e-14	8.0221e-14	1	1	0	A	64139085	C	A	64139085	5	1	251	1	0	0	0	0	0	0	1	0	17575	579	20	5	303	5	ZC4H2	23	64139085	Splice_Site	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	15308419	64139085	91131475	38	11022											
DLG3	1741	broad.mit.edu	37	chrX	69669655	69669655	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgattggtggtgcggaggCgacagcctccacccgagacc	7	6	15	13	4	0	1	0	0	0	1	1	5	1	2	4	4	3	0	4	4	0	1			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:69669655C>T	uc004dyi.2	+	3	996	c.649C>T	c.(649-651)Cga>Tga	p.R217*	U4_uc022byp.1_5'Flank|DLG3_uc004dyj.2_5'Flank	NM_021120	NP_066943	Q92796	DLG3_HUMAN	Homo sapiens discs, large homolog 3 (Drosophila) (DLG3), transcript variant 1, mRNA.	217	PDZ 1.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GGTGCGGAGGCGACAGCCTCC	0.662													8	16					0	0	1	0	0	T	69669655	C	T	69669655	4	4	251	1	0	0	0	0	0	1	0	0	4556	760	27	1	663	1	DLG3	23	69669655	Nonsense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	5530570	69669655	85600905	39	11023											
TMEM164	84187	broad.mit.edu	37	chrX	109416566	109416566	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggcctcgggacaccagActctcatgaccatgacccac	9	7	9	16	1	2	3	1	2	2	1	4	4	2	4	4	2	0	0	4	2	0	0			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:109416566A>C	uc004eom.3	+	6	1120	c.781A>C	c.(781-783)Act>Cct	p.T261P	TMEM164_uc004eon.2_Missense_Mutation_p.T112P|TMEM164_uc010npq.3_Missense_Mutation_p.T222P	NM_032227	NP_060168	Q5U3C3	TM164_HUMAN	Homo sapiens transmembrane protein 164 (TMEM164), transcript variant 2, mRNA.	261						integral to membrane				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						GGGACACCAGACTCTCATGAC	0.552													28	68					0	0	1	0	0	C	109416566	A	C	109416566	3	2	251	1	0	0	0	0	1	0	0	0	16076	275	10	5	803	5	TMEM164	23	109416566	Missense_Mutation	SNP	A	TCGA-HT-A615-01A-11D-A29Q-08	39746911	109416566	45853994	40	11024											
CUL4B	8450	broad.mit.edu	37	chrX	119669687	119669687	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgggaacatccacttacctCtttaaattctgcttttaaca	11	16	4	10	0	2	0	0	0	2	0	3	1	3	1	2	1	4	1	2	1	5	7			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:119669687C>G	uc004esw.3	-	17	2649	c.2212G>C	c.(2212-2214)Gag>Cag	p.E738Q	CUL4B_uc010nqq.3_Missense_Mutation_p.E439Q|CUL4B_uc004esv.3_Missense_Mutation_p.E720Q	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	Homo sapiens cullin 4B (CUL4B), transcript variant 1, mRNA.	738					DNA repair|cell cycle|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	p.E738Q(2)|p.E720Q(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCACTTACCTCTTTAAATTCT	0.353													44	119					0	0	1	0	0	G	119669687	C	G	119669687	3	3	251	1	0	0	0	0	1	0	0	0	4058	922	32	5	549	5	CUL4B	23	119669687	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	10253121	119669687	35600873	41	11025											
CSAG1	158511	broad.mit.edu	37	chrX	151908875	151908875	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggtctggtgaagatgtccagGaaaccacgagcctccagccc	10	6	12	13	1	1	2	0	1	1	1	3	4	3	3	5	3	3	0	5	3	2	0			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:151908875G>C	uc004fge.3	+	3	442	c.114G>C	c.(112-114)agG>agC	p.R38S	CSAG1_uc004fgf.3_Missense_Mutation_p.R38S|CSAG1_uc004fgd.3_Non-coding_Transcript	NM_153478	NP_705611	Q6PB30	CSAG1_HUMAN	Homo sapiens chondrosarcoma associated gene 1 (CSAG1), transcript variant a, mRNA.	38										central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					AGATGTCCAGGAAACCACGAG	0.572													21	359					0	0	1	0	0	C	151908875	G	C	151908875	3	2	251	1	0	0	0	0	1	0	0	0	3926	1165	41	5	120	5	CSAG1	23	151908875	Missense_Mutation	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08	32239188	151908875	3361685	42	11026											
PLXNA3	55558	broad.mit.edu	37	chrX	153688564	153688565	+	Frame_Shift_Ins	INS	-	-	G																															ctgctgctcttccttgccgtINSggggggggccctgggcaaca																										TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:153688564_153688565insG	uc004flm.3	+	1	214_215	c.41_42insG	c.(40-42)gtgfs	p.V14fs		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	14					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.A17fs*39(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCCTTGCCGTGGGGGGGGCCC	0.683													8	94	---	---	---	---						G	153688565	-	G	153688564	7	5	251	1	0	1	1	0	0	0	0	0	12121	1696	59	0	43	0	PLXNA3	23	153688564	Frame_Shift_Ins	INS	-	TCGA-HT-A615-01A-11D-A29Q-08	1779689	153688564	1581996	43	11027											
KHDRBS1	10657	broad.mit.edu	37	chr1	32479677	32479677	+	Frame_Shift_Del	DEL	C	C	-																															atggacccctccggtgcccaCccctcggtgcgtcagacgcc																										TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr1:32479677delC	uc001bub.3	+	0	187	c.81delC	c.(79-81)cacfs	p.H27fs	KHDRBS1_uc001bua.1_Frame_Shift_Del_p.H27fs|KHDRBS1_uc001buc.1_Non-coding_Transcript	NM_006559	NP_006550	Q07666	KHDR1_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 1 (KHDRBS1), mRNA.	27					G2/M transition of mitotic cell cycle|cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CCGGTGCCCACCCCTCGGTGC	0.771													2	4	---	---	---	---						-	32479677	C	-	32479677	7	5	252	1	0	1	0	1	0	0	0	0	8146	506	18	0	83	0	KHDRBS1	1	32479677	Frame_Shift_Del	DEL	C	TCGA-HT-A616-01A-11D-A29Q-08		32479677	216770944	1	11028											
KIAA1324	57535	broad.mit.edu	37	chr1	109741239	109741239	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagttctgggagatcaaccaCcatccgcgtcaggtgcagtc	9	8	11	13	2	3	1	2	0	1	1	5	2	4	1	3	2	2	2	3	2	1	1			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr1:109741239C>G	uc021orb.1	+	17	2665	c.2444C>G	c.(2443-2445)aCc>aGc	p.T815S	KIAA1324_uc009wex.2_Missense_Mutation_p.T765S|KIAA1324_uc010ovg.2_Missense_Mutation_p.T713S|KIAA1324_uc009wey.3_Missense_Mutation_p.T728S|KIAA1324_uc001dwr.3_Missense_Mutation_p.T465S|KIAA1324_uc001dws.1_Non-coding_Transcript|KIAA1324_uc009wez.1_Non-coding_Transcript	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	Homo sapiens KIAA1324 (KIAA1324), mRNA.	815					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		AGATCAACCACCATCCGCGTC	0.532													3	16					0	0	1	0	0	G	109741239	C	G	109741239	3	3	252	1	0	0	0	0	1	0	0	0	8223	507	18	5	2514	5	KIAA1324	1	109741239	Missense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	77261562	109741239	139509382	2	11029											
FLG	2312	broad.mit.edu	37	chr1	152282001	152282001	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgggatctttgtcttccTccagtgctgggccctgtgcg	2	13	14	12	2	2	0	0	0	2	0	4	1	4	1	3	3	2	1	3	3	0	2			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr1:152282001T>C	uc001ezu.1	-	2	5397	c.5361A>G	c.(5359-5361)ggA>ggG	p.G1787G		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1787	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTGTCTTCCTCCAGTGCTGG	0.597									Ichthyosis				7	392					0	0	1	0	0	C	152282001	T	C	152282001	2	2	252	1	0	0	0	0	0	0	0	1	5922	1538	54	4		4	FLG	1	152282001	Silent	SNP	T	TCGA-HT-A616-01A-11D-A29Q-08	42540762	152282001	96968620	3	11030											
FLG	2312	broad.mit.edu	37	chr1	152283229	152283229	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtctctgactgcagatgaaGcttgtctgtgcccaatgcct	7	13	10	11	0	2	3	0	2	2	1	3	3	2	3	2	0	4	2	2	0	2	1	rs144375884		TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr1:152283229G>C	uc001ezu.1	-	2	4169	c.4133C>G	c.(4132-4134)gCt>gGt	p.A1378G	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1378	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCAGATGAAGCTTGTCTGTG	0.532									Ichthyosis				16	555					0	0	1	0	0	C	152283229	G	C	152283229	3	2	252	1	0	0	0	0	1	0	0	0	5922	971	34	5	8056	5	FLG	1	152283229	Missense_Mutation	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08	1228	152283229	96967392	4	11031											
SIPA1L2	57568	broad.mit.edu	37	chr1	232650368	232650368	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcatgaaggctcggagagaTtgcagggtcacagcggaaaa	13	6	15	7	2	1	2	1	1	0	1	2	5	1	4	0	4	3	3	0	4	3	1			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr1:232650368T>C	uc001hvg.3	-	0	876	c.718A>G	c.(718-720)Atc>Gtc	p.I240V		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	240					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTCGGAGAGATTGCAGGGTCA	0.473													5	104					0	0	1	0	0	C	232650368	T	C	232650368	3	2	252	1	0	0	0	0	1	0	0	0	14330	1493	52	3	4534	3	SIPA1L2	1	232650368	Missense_Mutation	SNP	T	TCGA-HT-A616-01A-11D-A29Q-08	80367139	232650368	16600253	5	11032											
TTN	7273	broad.mit.edu	37	chr2	179453926	179453926	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttagttgccgtaactacAtatttacccccatcacttcg	9	14	6	12	2	1	0	1	0	0	0	2	0	1	0	3	0	4	3	3	0	5	8			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr2:179453926A>G	uc021vsy.1	-	252	55047	c.54822T>C	c.(54820-54822)taT>taC	p.Y18274Y	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.Y11969Y|TTN_uc021vta.1_Silent_p.Y11902Y|TTN_uc021vtb.1_Silent_p.Y11777Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19201	Fibronectin type-III 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCGTAACTACATATTTACCCC	0.413													51	64					0	0	1	0	0	G	179453926	A	G	179453926	2	3	252	1	0	0	0	0	0	0	0	1	16732	224	8	3		3	TTN	2	179453926	Silent	SNP	A	TCGA-HT-A616-01A-11D-A29Q-08		179453926	63745447	6	11033											
TTN	7273	broad.mit.edu	37	chr2	179579894	179579894	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctttataccaagaaacGtgaaatgggggagtgccctg	11	11	12	7	1	1	2	0	1	1	1	1	3	1	3	2	2	3	0	2	2	5	4			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr2:179579894G>A	uc021vsy.1	-	86	22512	c.22287C>T	c.(22285-22287)caC>caT	p.H7429H	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.H4090H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	8356	Ig-like 56.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCAAGAAACGTGAAATGGGG	0.443													62	98					0	0	1	0	0	A	179579894	G	A	179579894	2	1	252	1	0	0	0	0	0	0	0	1	16732	1136	40	1		1	TTN	2	179579894	Silent	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08	125968	179579894	63619479	7	11034											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								16	44					0	0	1	0	0	T	209113112	C	T	209113112	3	4	252	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	29533218	209113112	34086261	8	11035											
CHCHD4	131474	broad.mit.edu	37	chr3	14157999	14157999	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagtttcatgatcttctttGgttacaaatatgattcgatc	10	17	8	6	1	3	2	1	2	2	0	5	4	3	3	0	2	1	2	0	2	3	6			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr3:14157999G>A	uc003byj.4	-	1	243	c.48C>T	c.(46-48)acC>acT	p.T16T	CHCHD4_uc003byi.4_Silent_p.T29T	NM_001098502	NP_001091972	Q8N4Q1	MIA40_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 4 (CHCHD4), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	16					protein transport|transmembrane transport	mitochondrial intermembrane space				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						GATCTTCTTTGGTTACAAATA	0.468													4	159					0	0	1	0	0	A	14157999	G	A	14157999	2	1	252	1	0	0	0	0	0	0	0	1	3318	1335	47	3		3	CHCHD4	3	14157999	Silent	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08		14157999	183864431	9	11036											
CCDC54	84692	broad.mit.edu	37	chr3	107096617	107096617	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatgatgatagttatgaCggaaaaatgaatcttccagt	16	11	9	5	1	1	5	0	4	1	1	2	6	2	6	1	1	0	1	1	1	6	3	rs144553244		TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr3:107096617C>T	uc003dwi.1	+	0	430	c.183C>T	c.(181-183)gaC>gaT	p.D61D		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.	61								p.D61D(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						ATAGTTATGACGGAAAAATGA	0.363													29	81					0	0	1	0	0	T	107096617	C	T	107096617	2	4	252	1	0	0	0	0	0	0	0	1	2824	535	19	1		1	CCDC54	3	107096617	Silent	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	92938618	107096617	90925813	10	11037											
FAT2	2196	broad.mit.edu	37	chr5	150917494	150917494	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atacatcttcatgaaccttgCcagtatagagaagctagaga	15	10	8	8	0	2	3	1	1	1	2	2	5	2	3	2	0	4	2	2	0	6	6			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr5:150917494C>G	uc003lue.4	-	10	9066	c.9053G>C	c.(9052-9054)gGc>gCc	p.G3018A		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	3018	Cadherin 27.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGAACCTTGCCAGTATAGAG	0.458													3	52					0	0	1	0	0	G	150917494	C	G	150917494	3	3	252	1	0	0	0	0	1	0	0	0	5690	739	26	5	4048	5	FAT2	5	150917494	Missense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08		150917494	29997766	11	11038											
C5orf25	375484	broad.mit.edu	37	chr5	175763804	175763804	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctccacagctgtgagacAcccacccgcctgcctctgtc	6	9	7	19	1	1	1	0	1	1	1	4	2	3	1	6	0	2	1	6	0	0	1			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr5:175763804A>C	uc003mds.4	+	9	2603	c.2196A>C	c.(2194-2196)acA>acC	p.T732T	C5orf25_uc003mdr.3_Non-coding_Transcript|C5orf25_uc003mdt.4_Silent_p.T317T|C5orf25_uc003mdv.3_Silent_p.T193T			Q8NDZ2	CE025_HUMAN	Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA.	732												all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)		GCTGTGAGACACCCACCCGCC	0.478													8	59					0	0	1	0	0	C	175763804	A	C	175763804	2	2	252	1	0	0	0	0	0	0	0	1	2288	146	6	5		5	C5orf25	5	175763804	Silent	SNP	A	TCGA-HT-A616-01A-11D-A29Q-08	24846310	175763804	5151456	12	11039											
HLA-G	3135	broad.mit.edu	37	chr6	29855999	29855999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctactacaaccagagcgaggGcggtgagtgaccccggcccg	9	4	14	14	4	0	3	0	2	0	1	0	4	0	3	4	3	4	0	4	3	3	2	rs113415054	by1000genomes	TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr6:29855999G>A	uc010jro.3	+	1	493	c.347G>A	c.(346-348)gGc>gAc	p.G116D	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_5'Flank|HLA-G_uc021ytv.1_Intron|HLA-J_uc021ytx.1_5'Flank			P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, H (pseudogene) (HLA-H), non-coding RNA.	114	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CAGAGCGAGGGCGGTGAGTGA	0.667													5	30					0	0	1	0	0	A	29855999	G	A	29855999	3	1	252	1	0	0	0	0	1	0	0	0	7212	1218	42	3		3	HLA-G	6	29855999	Missense_Mutation	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08		29855999	141259068	13	11040											
CAPN11	11131	broad.mit.edu	37	chr6	44143857	44143857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgacaagatgctggtgagagGgcacgcttactctgtgactg	9	10	14	8	1	1	4	0	3	1	2	1	5	1	4	0	2	2	3	0	2	2	1			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr6:44143857G>A	uc003owt.1	+	7	922	c.884G>A	c.(883-885)gGg>gAg	p.G295E	CAPN11_uc011dvn.2_5'Flank	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	295	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGGTGAGAGGGCACGCTTAC	0.557													8	23					0	0	1	0	0	A	44143857	G	A	44143857	3	1	252	1	0	0	0	0	1	0	0	0	2624	1232	43	3	914	3	CAPN11	6	44143857	Missense_Mutation	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08	14287858	44143857	126971210	14	11041											
NOTCH1	4851	broad.mit.edu	37	chr9	139402727	139402727	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggacacgctgggcacgtcGcagtaaaggccggtccagcc	9	4	14	14	4	0	0	0	0	0	0	2	1	1	1	3	4	1	4	3	4	2	1			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr9:139402727G>C	uc004chz.3	-	19	3282	c.3282C>G	c.(3280-3282)tgC>tgG	p.C1094W	NOTCH1_uc004cia.1_Missense_Mutation_p.C324W	NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	1094	EGF-like 28.				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGGGCACGTCGCAGTAAAGGC	0.662			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			4	142					0	0	1	0	0	C	139402727	G	C	139402727	3	2	252	1	0	0	0	0	1	0	0	0	10547	1079	38	5	4445	5	NOTCH1	9	139402727	Missense_Mutation	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08		139402727	1810704	15	11042											
CCAR1	55749	broad.mit.edu	37	chr10	70513778	70513779	+	Frame_Shift_Ins	INS	-	-	A																															cagagaagtagagtccttagINSaaaaaaatatggccattctt																										TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr10:70513778_70513779insA	uc001joo.3	+	10	1407_1408	c.1288_1289insA	c.(1288-1290)gaafs	p.E430fs	CCAR1_uc001jol.1_Non-coding_Transcript|CCAR1_uc001jom.1_Frame_Shift_Ins_p.E235fs|CCAR1_uc009xpx.1_Frame_Shift_Ins_p.E404fs|CCAR1_uc001jon.1_Frame_Shift_Ins_p.E376fs|CCAR1_uc010qiz.1_Frame_Shift_Ins_p.E415fs|CCAR1_uc010qja.1_Frame_Shift_Ins_p.E415fs|CCAR1_uc010qjb.2_Non-coding_Transcript|SNORD98_uc001jop.1_5'Flank	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	Homo sapiens cell division cycle and apoptosis regulator 1 (CCAR1), mRNA.	430					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						AGAGTCCTTAGAAAAAAATATG	0.381													32	68	---	---	---	---						A	70513779	-	A	70513778	7	5	252	1	0	1	1	0	0	0	0	0	2730	943	33	0	1326	0	CCAR1	10	70513778	Frame_Shift_Ins	INS	-	TCGA-HT-A616-01A-11D-A29Q-08		70513778	65020969	16	11043											
TMX2	51075	broad.mit.edu	37	chr11	57480129	57480129	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaattgctctcgtgtattcGgtgccgcgactttcacgatg	6	14	10	11	5	2	0	1	0	1	0	4	2	2	0	1	1	2	2	1	1	2	5			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr11:57480129G>A	uc001nlc.2	+	0	135	c.39G>A	c.(37-39)tcG>tcA	p.S13S	CTNND1_uc001nlf.2_5'UTR|MED19_uc001nla.1_5'Flank|MED19_uc001nlb.3_5'Flank|TMX2_uc001nld.2_5'UTR|TMX2_uc001nle.2_Silent_p.S13S|TMX2_uc021qji.1_Non-coding_Transcript	NM_015959	NP_057043	Q9Y320	TMX2_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 2 (TMX2), transcript variant 1, mRNA.	13					cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TCGTGTATTCGGTGCCGCGAC	0.627													7	38					0	0	1	0	0	A	57480129	G	A	57480129	2	1	252	1	0	0	0	0	0	0	0	1	16264	1103	39	2		2	TMX2	11	57480129	Silent	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08		57480129	77526387	17	11044											
OR5A1	219982	broad.mit.edu	37	chr11	59211152	59211152	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctccatatttaggcttcacTtttgcggacccaacatcatc	9	13	6	13	1	2	0	2	0	0	0	4	1	3	1	2	2	2	2	2	2	3	6			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr11:59211152T>A	uc001nnx.1	+	0	511	c.511T>A	c.(511-513)Ttt>Att	p.F171I		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TAGGCTTCACTTTTGCGGACC	0.532													8	374					0	0	1	0	0	A	59211152	T	A	59211152	3	1	252	1	0	0	0	0	1	0	0	0	11139	1609	56	5	513	5	OR5A1	11	59211152	Missense_Mutation	SNP	T	TCGA-HT-A616-01A-11D-A29Q-08	1731023	59211152	75795364	18	11045											
AVPR1A	552	broad.mit.edu	37	chr12	63543861	63543861	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacccttgctctggcgcgaCgccgtcttcccgcggacgtt	3	9	12	17	7	2	0	0	0	2	0	3	2	3	1	3	2	1	3	3	2	0	3			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr12:63543861C>T	uc001sro.1	-	0	2730	c.756G>A	c.(754-756)gcG>gcA	p.A252A		NM_000706	NP_000697	P37288	V1AR_HUMAN	Homo sapiens arginine vasopressin receptor 1A (AVPR1A), mRNA.	252					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	p.T251M(1)|p.T251K(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	TCTGGCGCGACGCCGTCTTCC	0.622													7	190					0	0	1	0	0	T	63543861	C	T	63543861	2	4	252	1	0	0	0	0	0	0	0	1	1231	523	19	1		1	AVPR1A	12	63543861	Silent	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08		63543861	70308034	19	11046											
ATG2B	55102	broad.mit.edu	37	chr14	96777876	96777877	+	Splice_Site	DEL	CA	CA	-																															tttcatttattttaataactCacttgctctccatcagaatc																										TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr14:96777876_96777877delCA	uc001yfi.3	-	27	4355	c.3990_splice	c.e27+1	p.Q1330_splice		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	1330										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TTTAATAACTCACTTGCTCTCC	0.277													14	26	---	---	---	---						-	96777877	CA	-	96777876	8	5	252	1	0	1	0	1	0	0	1	0	1094	841	29	0		0	ATG2B	14	96777876	Splice_Site	DEL	CA	TCGA-HT-A616-01A-11D-A29Q-08		96777876	10571664	20	11047											
THBS1	7057	broad.mit.edu	37	chr15	39884880	39884880	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctatgtgcccaatgccaacCaggctgaccatgacaaagat	13	7	8	13	0	0	3	0	2	0	1	0	3	0	3	5	1	3	1	5	1	4	1			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr15:39884880C>T	uc001zkh.3	+	16	2823	c.2644C>T	c.(2644-2646)Cag>Tag	p.Q882*	THBS1_uc010bbi.3_Nonsense_Mutation_p.Q354*	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	882					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CAATGCCAACCAGGCTGACCA	0.502													18	36					0	0	1	0	0	T	39884880	C	T	39884880	4	4	252	1	0	0	0	0	0	1	0	0	15850	595	21	3	2706	3	THBS1	15	39884880	Nonsense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08		39884880	62646512	21	11048											
SPINT1	6692	broad.mit.edu	37	chr15	41146276	41146276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccctccatggaaaggcGccatccaggtgggctttact	8	8	12	13	1	0	0	0	0	0	0	2	1	2	1	5	5	1	1	5	5	2	2	rs138167951		TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr15:41146276G>A	uc001zna.3	+	5	1184	c.980G>A	c.(979-981)cGc>cAc	p.R327H	SPINT1_uc001znb.3_Missense_Mutation_p.R311H|SPINT1_uc001znc.3_Missense_Mutation_p.R311H|SPINT1_uc010ucs.2_Intron	NM_181642	NP_857593	O43278	SPIT1_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.	327						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		ATGGAAAGGCGCCATCCAGGT	0.592													48	114					0	0	1	0	0	A	41146276	G	A	41146276	3	1	252	1	0	0	0	0	1	0	0	0	15067	1087	38	1	998	1	SPINT1	15	41146276	Missense_Mutation	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08	1261396	41146276	61385116	22	11049											
VPS13C	54832	broad.mit.edu	37	chr15	62300864	62300864	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaacttaccatcgtcgacCattggtatgaagtggtaaat	12	13	8	8	2	1	1	0	1	1	0	3	2	1	1	2	2	2	2	2	2	6	5			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr15:62300864C>G	uc002agz.3	-	13	1199	c.1108G>C	c.(1108-1110)Ggt>Cgt	p.G370R	VPS13C_uc002aha.3_Missense_Mutation_p.G327R|VPS13C_uc002ahb.2_Missense_Mutation_p.G370R|VPS13C_uc002ahc.2_Missense_Mutation_p.G327R	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	370					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CATCGTCGACCATTGGTATGA	0.338													5	8					0	0	1	0	0	G	62300864	C	G	62300864	3	3	252	1	0	0	0	0	1	0	0	0	17188	594	21	5	10469	5	VPS13C	15	62300864	Missense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	21154588	62300864	40230528	23	11050											
CNOT1	23019	broad.mit.edu	37	chr16	58581553	58581553	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcaaagaacgatctgagaAattggctgcagctttatcag	14	9	10	8	1	2	2	1	1	1	2	2	4	2	2	0	1	4	4	0	1	4	3			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr16:58581553A>C	uc002env.3	-	25	3849	c.3556T>G	c.(3556-3558)Ttc>Gtc	p.F1186V	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.F1181V|CNOT1_uc002enx.3_Missense_Mutation_p.F1186V|CNOT1_uc010vik.2_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	1186					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CGATCTGAGAAATTGGCTGCA	0.358													11	28					0	0	1	0	0	C	58581553	A	C	58581553	3	2	252	1	0	0	0	0	1	0	0	0	3617	14	1	5	3892	5	CNOT1	16	58581553	Missense_Mutation	SNP	A	TCGA-HT-A616-01A-11D-A29Q-08		58581553	31773200	24	11051											
C16orf70	80262	broad.mit.edu	37	chr16	67168278	67168278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctcccatgatgcctctgaGctgtttcctgggcaatgtct	5	13	11	12	0	2	2	0	2	2	0	4	2	4	2	3	2	2	4	3	2	1	1			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr16:67168278G>A	uc002erd.3	+	7	733	c.569G>A	c.(568-570)aGc>aAc	p.S190N	C16orf70_uc002erc.3_Missense_Mutation_p.S190N|C16orf70_uc002ere.1_3'UTR	NM_025187	NP_079463	Q9BSU1	CP070_HUMAN	Homo sapiens chromosome 16 open reading frame 70 (C16orf70), mRNA.	190										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ATGCCTCTGAGCTGTTTCCTG	0.532													9	470					0	0	1	0	0	A	67168278	G	A	67168278	3	1	252	1	0	0	0	0	1	0	0	0	1829	971	34	3	599	3	C16orf70	16	67168278	Missense_Mutation	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08	8586725	67168278	23186475	25	11052											
PRDM7	11105	broad.mit.edu	37	chr16	90124772	90124772	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgtggatcagaatattgccGctcctgattctgatcccctg	7	12	10	12	2	2	3	1	2	1	1	4	4	4	4	4	1	1	1	4	1	2	3	rs144617453	byFrequency	TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr16:90124772G>A	uc010cje.3	-	9	1424	c.1404C>T	c.(1402-1404)agC>agT	p.S468S	PRDM7_uc002fqo.3_Missense_Mutation_p.A168V|PRDM7_uc010cjf.3_Missense_Mutation_p.A257V	NM_001098173	NP_001091643	Q9NQW5	PRDM7_HUMAN	Homo sapiens PR domain containing 7 (PRDM7), transcript variant 1, mRNA.	468						chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GAATATTGCCGCTCCTGATTC	0.468													4	115					0	0	1	0	0	A	90124772	G	A	90124772	2	1	252	1	0	0	0	0	0	0	0	1	12461	1087	38	1		1	PRDM7	16	90124772	Silent	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08	22956494	90124772	229981	26	11053											
ANKRD13B	124930	broad.mit.edu	37	chr17	27939276	27939276	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctgcgtctgcctcctggcTtcccagttaagattggtgag	5	12	11	13	1	1	2	0	1	1	1	3	2	3	2	4	2	2	2	4	2	1	3			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr17:27939276T>G	uc002hei.3	+	10	1356	c.1243T>G	c.(1243-1245)Ttc>Gtc	p.F415V	ANKRD13B_uc002heh.3_Missense_Mutation_p.F283V|ANKRD13B_uc002hej.3_Non-coding_Transcript	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN	Homo sapiens ankyrin repeat domain 13B (ANKRD13B), mRNA.	415										cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						GCCTCCTGGCTTCCCAGTTAA	0.622													32	74					0	0	1	0	0	G	27939276	T	G	27939276	3	3	252	1	0	0	0	0	1	0	0	0	642	1609	56	5	1285	5	ANKRD13B	17	27939276	Missense_Mutation	SNP	T	TCGA-HT-A616-01A-11D-A29Q-08		27939276	53255934	27	11054											
ABCA9	10350	broad.mit.edu	37	chr17	66982397	66982397	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgtcaggttgggccacagCgcattctcctgagggcagta	8	9	13	11	1	2	1	1	1	1	0	3	1	2	1	2	3	1	4	2	3	1	3			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr17:66982397C>T	uc002jhu.3	-	31	4259	c.4116G>A	c.(4114-4116)gcG>gcA	p.A1372A	ABCA9_uc010dez.3_Silent_p.A1334A	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	1372	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity	p.N1371S(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TGGGCCACAGCGCATTCTCCT	0.547													8	116					0	0	1	0	0	T	66982397	C	T	66982397	2	4	252	1	0	0	0	0	0	0	0	1	39	755	27	1		1	ABCA9	17	66982397	Silent	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	39043121	66982397	14212813	28	11055											
DSG2	1829	broad.mit.edu	37	chr18	29126141	29126141	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctgacccaatggcttctaGaaatgtgatagcaacagaaa	15	9	8	9	0	1	4	0	2	1	2	2	4	2	4	2	1	2	2	2	1	6	3			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr18:29126141G>C	uc002kwu.4	+	14	2980	c.2792G>C	c.(2791-2793)aGa>aCa	p.R931T	LOC100652770_uc002kwv.4_Intron	NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	931					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			ATGGCTTCTAGAAATGTGATA	0.473													65	76					0	0	1	0	0	C	29126141	G	C	29126141	3	2	252	1	0	0	0	0	1	0	0	0	4777	942	33	5	2850	5	DSG2	18	29126141	Missense_Mutation	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08		29126141	48951107	29	11056											
RTTN	25914	broad.mit.edu	37	chr18	67695981	67695981	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttacattcctcattttgataAagacagtttcttaggagctg	11	16	7	7	0	2	2	1	1	1	1	3	3	3	3	1	1	2	2	1	1	4	7			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr18:67695981A>C	uc002lkp.2	-	42	5870	c.5802T>G	c.(5800-5802)ctT>ctG	p.L1934L	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Silent_p.L1022L|RTTN_uc010dqp.2_Silent_p.L186L	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	1934				L -> P (in Ref. 4; AAH46222).			binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CATTTTGATAAAGACAGTTTC	0.308													5	16					0	0	1	0	0	C	67695981	A	C	67695981	2	2	252	1	0	0	0	0	0	0	0	1	13737	1	1	5		5	RTTN	18	67695981	Silent	SNP	A	TCGA-HT-A616-01A-11D-A29Q-08	38569840	67695981	10381267	30	11057											
PRODH2	58510	broad.mit.edu	37	chr19	36293163	36293163	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtcccatccagaggaatGcccagctcccacatgctaca	12	6	7	16	0	0	1	0	0	0	1	3	2	3	2	4	1	4	2	4	1	2	1			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr19:36293163G>T	uc002obx.1	-	9	1374	c.1356C>A	c.(1354-1356)ggC>ggA	p.G452G		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	452					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCAGAGGAATGCCCAGCTCCC	0.542													10	136					1.5842e-08	1.61467e-08	1	1	0	T	36293163	G	T	36293163	2	4	252	1	0	0	0	0	0	0	0	1	12549	1306	46	5		5	PRODH2	19	36293163	Silent	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08		36293163	22835820	31	11058											
KCNA7	3743	broad.mit.edu	37	chr19	49573516	49573516	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgaaattggagacaatgAcgggcactggcagggaaata	15	6	14	6	1	0	3	0	2	0	1	0	5	0	4	0	4	1	3	0	4	4	2			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr19:49573516A>G	uc002pmg.3	-	1	1531	c.1175T>C	c.(1174-1176)gTc>gCc	p.V392A		NM_031886	NP_114092	Q96RP8	KCNA7_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 7 (KCNA7), mRNA.	392						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		GGAGACAATGACGGGCACTGG	0.567													26	43					0	0	1	0	0	G	49573516	A	G	49573516	3	3	252	1	0	0	0	0	1	0	0	0	8008	275	10	3	199	3	KCNA7	19	49573516	Missense_Mutation	SNP	A	TCGA-HT-A616-01A-11D-A29Q-08	13280353	49573516	9555467	32	11059											
PRR12	57479	broad.mit.edu	37	chr19	50123629	50123629	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcgggcagtacctgggcgtCtgctcaaaaccagggcgatg	9	6	15	11	3	2	0	1	0	1	0	2	1	2	0	2	3	4	3	2	3	3	1			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr19:50123629C>T	uc002poo.4	+	9	5518	c.5518C>T	c.(5518-5520)Ctg>Ttg	p.L1840L		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	1019							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		ACCTGGGCGTCTGCTCAAAAC	0.567													6	15					0	0	1	0	0	T	50123629	C	T	50123629	2	4	252	1	0	0	0	0	0	0	0	1	12584	912	32	3		3	PRR12	19	50123629	Silent	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	550113	50123629	9005354	33	11060											
TXN2	25828	broad.mit.edu	37	chr22	36872905	36872905	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcagggtccacaccaccTcaaaaggcgagaaaggaagc	14	4	11	12	1	1	1	1	0	0	1	2	3	2	2	3	3	2	1	3	3	4	1			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr22:36872905T>A	uc003apk.1	-	3	341	c.264_splice	c.e3-1	p.Q88_splice	TXN2_uc003apl.1_Splice_Site	NM_012473	NP_036605	Q99757	THIOM_HUMAN	Homo sapiens thioredoxin 2 (TXN2), nuclear gene encoding mitochondrial protein, mRNA.	88	Thioredoxin.				cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	mitochondrion|nucleolus	electron carrier activity			breast(1)|lung(1)|prostate(1)	3						CCACACCACCTCAAAAGGCGA	0.537													5	146					0	0	1	0	0	A	36872905	T	A	36872905	5	1	252	1	0	0	0	0	0	0	1	0	16788	1565	54	5	246	5	TXN2	22	36872905	Splice_Site	SNP	T	TCGA-HT-A616-01A-11D-A29Q-08		36872905	14431661	34	11061											
MAGEB4	4115	broad.mit.edu	37	chrX	30260295	30260295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctccgtgcccgtgagaaaCgccagcggacccgtggtcag	8	5	14	14	5	1	1	1	1	0	1	2	3	2	2	4	2	4	1	4	2	1	0			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:30260295C>T	uc004dcb.3	+	0	239	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C	MAGEB1_uc004dcc.3_5'Flank|MAGEB1_uc004dcd.3_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	Homo sapiens melanoma antigen family B, 4 (MAGEB4), mRNA.	15								p.R15H(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CCGTGAGAAACGCCAGCGGAC	0.567													13	46					0	0	1	0	0	T	30260295	C	T	30260295	3	4	252	1	0	0	0	0	1	0	0	0	9178	536	19	1	45	1	MAGEB4	23	30260295	Missense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08		30260295	125010265	35	11062											
GAGE1	2543	broad.mit.edu	37	chrX	49355893	49355893	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagctgctcaggagggaCaggatgagggagcatctgca	10	6	16	9	0	2	1	1	1	1	0	2	5	2	5	0	4	5	5	0	4	0	0	rs147803166	by1000genomes	TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:49355893C>G	uc004doi.4	+	2	272	c.175C>G	c.(175-177)Cag>Gag	p.Q59E	GAGE1_uc004doj.3_Intron	NM_001127212	NP_001120684	Q13065	GAGE1_HUMAN	Homo sapiens G antigen 2A (GAGE2A), mRNA.	60					cellular defense response			p.Q59E(8)				Ovarian(276;0.236)					TCAGGAGGGACAGGATGAGGG	0.562													5	479					0	0	1	0	0	G	49355893	C	G	49355893	3	3	252	1	0	0	0	0	1	0	0	0	6186	479	17	5		5	GAGE1	23	49355893	Missense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	19095598	49355893	105914667	36	11063											
NUDT10	170685	broad.mit.edu	37	chrX	51076024	51076024	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccgagaggtgtacgaagaGgcgggagtcaaggggaagtt	11	6	19	5	3	1	2	1	0	0	2	2	6	2	4	1	5	1	2	1	5	4	2	rs143435240	byFrequency	TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:51076024G>A	uc004dph.3	+	1	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_uc004dpi.4_Silent_p.E69E	NM_153183	NP_694853	Q8NFP7	NUD10_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 10 (NUDT10), mRNA.	69	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.E69E(16)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657													3	49					0	0	1	0	0	A	51076024	G	A	51076024	2	1	252	1	0	0	0	0	0	0	0	1	10726	991	35	3		3	NUDT10	23	51076024	Silent	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08	1720131	51076024	104194536	37	11064											
ATRX	546	broad.mit.edu	37	chrX	76939697	76939697	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgccttcttaatcatctCtttgggcacaattagtgcgg	7	17	8	9	1	3	0	1	0	2	0	4	0	3	0	1	2	2	1	1	2	3	6			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:76939697C>A	uc004ecp.4	-	8	1283	c.1051G>T	c.(1051-1053)Gag>Tag	p.E351*	ATRX_uc004ecq.4_Nonsense_Mutation_p.E313*|ATRX_uc004eco.4_Nonsense_Mutation_p.E136*|ATRX_uc004ecr.2_Nonsense_Mutation_p.E312*|ATRX_uc010nlx.1_Nonsense_Mutation_p.E351*|ATRX_uc010nly.1_Nonsense_Mutation_p.E296*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	351					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTAATCATCTCTTTGGGCACA	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						39	69					2.75727e-19	2.8654e-19	1	1	0	A	76939697	C	A	76939697	4	1	252	1	0	0	0	0	0	1	0	0	1208	922	32	5	6535	5	ATRX	23	76939697	Nonsense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	25863673	76939697	78330863	38	11065											
RGAG1	57529	broad.mit.edu	37	chrX	109694050	109694050	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccacacagttgatgacatctCcagtctttgacaccatgtct	10	12	6	13	0	3	3	0	3	3	0	4	3	3	3	3	0	0	1	3	0	0	2			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:109694050C>G	uc004eor.2	+	2	451	c.205C>G	c.(205-207)Cca>Gca	p.P69A	RGAG1_uc011msr.1_Missense_Mutation_p.P69A	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	69										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GATGACATCTCCAGTCTTTGA	0.517											OREG0019909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	303					0	0	1	0	0	G	109694050	C	G	109694050	3	3	252	1	0	0	0	0	1	0	0	0	13274	855	30	5	207	5	RGAG1	23	109694050	Missense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	32754353	109694050	45576510	39	11066											
GPR112	139378	broad.mit.edu	37	chrX	135429890	135429890	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagcacacagattacaccaaCcttgacctcaagtaacacag	17	6	5	13	0	1	2	1	1	0	1	1	2	1	2	3	0	4	2	3	0	5	3			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:135429890C>A	uc004ezu.1	+	5	4316	c.4025C>A	c.(4024-4026)aCc>aAc	p.T1342N	GPR112_uc010nsb.1_Missense_Mutation_p.T1137N|GPR112_uc010nsc.1_Missense_Mutation_p.T1109N	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1342					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATTACACCAACCTTGACCTCA	0.463													6	131					0.217242	0.217242	1	1	0	A	135429890	C	A	135429890	3	1	252	1	0	0	0	0	1	0	0	0	6629	507	18	5	4035	5	GPR112	23	135429890	Missense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	25735840	135429890	19840670	40	11067											
MCF2	4168	broad.mit.edu	37	chrX	138711938	138711938	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtagttctgtctcagccagTtcagttccaaaggactgtaa	10	12	10	9	0	3	0	2	0	2	0	5	1	4	1	2	2	1	5	2	2	3	5			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:138711938T>A	uc011mwn.1	-	6	795	c.789A>T	c.(787-789)gaA>gaT	p.E263D	MCF2_uc004fav.3_Missense_Mutation_p.E118D|MCF2_uc004fau.3_Missense_Mutation_p.E118D|MCF2_uc010nsh.2_Missense_Mutation_p.E118D|MCF2_uc011mwm.2_Missense_Mutation_p.E79D|MCF2_uc011mwl.2_Missense_Mutation_p.E79D|MCF2_uc011mwo.1_Missense_Mutation_p.E178D|MCF2_uc004faw.2_Missense_Mutation_p.E178D	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	118					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	Rho guanyl-nucleotide exchange factor activity|protein binding			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TCTCAGCCAGTTCAGTTCCAA	0.398													76	134					0	0	1	0	0	A	138711938	T	A	138711938	3	1	252	1	0	0	0	0	1	0	0	0	9378	1722	60	5	2591	5	MCF2	23	138711938	Missense_Mutation	SNP	T	TCGA-HT-A616-01A-11D-A29Q-08	3282048	138711938	16558622	41	11068											
CD99L2	83692	broad.mit.edu	37	chrX	149938823	149938823	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaggttctctcccttcacGtagtctgcgttgagaccctc	5	13	8	15	2	3	1	1	1	2	1	7	2	5	1	3	1	1	3	3	1	1	4	rs147156476	byFrequency	TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:149938823G>A	uc004fek.3	-	10	933	c.705C>T	c.(703-705)taC>taT	p.Y235Y	CD99L2_uc011myb.2_Silent_p.Y152Y|CD99L2_uc004feo.3_Non-coding_Transcript|CD99L2_uc004fel.3_Silent_p.Y225Y|CD99L2_uc004fem.3_Silent_p.Y176Y|CD99L2_uc004fen.3_Silent_p.Y153Y	NM_001242614	NP_001229543	Q8TCZ2	C99L2_HUMAN	Homo sapiens CD99 molecule-like 2 (CD99L2), transcript variant 5, mRNA.	225					cell adhesion	cell junction|integral to membrane		p.V234M(1)		endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCCTTCACGTAGTCTGCGT	0.537													19	35					0	0	1	0	0	A	149938823	G	A	149938823	2	1	252	1	0	0	0	0	0	0	0	1	3051	1140	40	1		1	CD99L2	23	149938823	Silent	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08	11226885	149938823	5331737	42	11069											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	17	0	24	0	0	0	3	0	0	0	3	0	14	0	13	0	10	0	0	0	10	3	0			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:150156360G>A	uc004fep.3	+	4	668	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_uc004feq.3_3'UTR|HMGB3_uc004fer.3_Silent_p.E192E	NM_005342	NP_005333	O15347	HMGB3_HUMAN	Homo sapiens high mobility group box 3 (HMGB3), mRNA.	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(2)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443													5	62					0	0	1	0	0	A	150156360	G	A	150156360	2	1	252	1	0	0	0	0	0	0	0	1	7227	991	35	3		3	HMGB3	23	150156360	Silent	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08	217537	150156360	5114200	43	11070											
NAA10	8260	broad.mit.edu	37	chrX	153195525	153195525	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgctgaggtccttgctgTccccaccactatcctcggca	5	10	8	18	2	0	1	0	1	0	0	5	1	3	1	6	2	1	3	6	2	1	2			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:153195525T>C	uc004fjm.1	-	7	734	c.623A>G	c.(622-624)gAc>gGc	p.D208G	NAA10_uc004fjn.1_Missense_Mutation_p.D193G	NM_003491	NP_003482	P41227	NAA10_HUMAN	Homo sapiens N(alpha)-acetyltransferase 10, NatA catalytic subunit (NAA10), transcript variant 1, mRNA.	208					DNA packaging|N-terminal protein amino acid acetylation|internal protein amino acid acetylation	cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	p.D208E(1)		breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						GTCCTTGCTGTCCCCACCACT	0.617													4	95					0	0	1	0	0	C	153195525	T	C	153195525	3	2	252	1	0	0	0	0	1	0	0	0	10116	1667	58	3	88	3	NAA10	23	153195525	Missense_Mutation	SNP	T	TCGA-HT-A616-01A-11D-A29Q-08	3039165	153195525	2075035	44	11071											
KIAA1324	57535	broad.mit.edu	37	chr1	109716150	109716150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagaaccacagccttctcaGtatggaccaaagtacccaag	14	6	9	12	0	1	1	1	0	1	1	2	3	1	2	4	2	3	2	4	2	5	3			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr1:109716150G>A	uc021orb.1	+	5	972	c.751G>A	c.(751-753)Gta>Ata	p.V251I	KIAA1324_uc009wex.2_Missense_Mutation_p.V251I|KIAA1324_uc010ovg.2_Missense_Mutation_p.V149I|KIAA1324_uc009wey.3_Missense_Mutation_p.V251I	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	Homo sapiens KIAA1324 (KIAA1324), mRNA.	251					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		AGCCTTCTCAGTATGGACCAA	0.453													13	72					0	0	1	0	0	A	109716150	G	A	109716150	3	1	253	1	0	0	0	0	1	0	0	0	8223	1029	36	3	773	3	KIAA1324	1	109716150	Missense_Mutation	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08		109716150	139534471	1	11072											
FCRL5	83416	broad.mit.edu	37	chr1	157490931	157490931	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgctcctccagagggggaCgacctatttcctagggtgac	8	8	13	12	2	0	2	0	1	0	1	3	5	3	3	4	3	0	1	4	3	2	3			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr1:157490931C>T	uc009wsm.3	-	10	2549	c.2391G>A	c.(2389-2391)tcG>tcA	p.S797S	FCRL5_uc001fqu.3_Silent_p.S797S	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	797	Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity	p.S797L(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CAGAGGGGGACGACCTATTTC	0.592													28	107					0	0	1	0	0	T	157490931	C	T	157490931	2	4	253	1	0	0	0	0	0	0	0	1	5798	523	19	1		1	FCRL5	1	157490931	Silent	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08	47774781	157490931	91759690	2	11073											
PEA15	8682	broad.mit.edu	37	chr1	160181386	160181386	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccaacaacatcacccttGaagatctagaacagctcaag	16	7	6	12	0	3	4	2	2	1	2	3	4	3	4	2	0	4	1	2	0	6	2			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr1:160181386G>T	uc001fvl.3	+	3	549	c.115G>T	c.(115-117)Gaa>Taa	p.E39*	AK093299_uc001fvj.1_5'Flank|PEA15_uc001fvk.3_Nonsense_Mutation_p.E18*	NM_003768	NP_003759	Q15121	PEA15_HUMAN	Homo sapiens phosphoprotein enriched in astrocytes 15 (PEA15), mRNA.	18	DED.				anti-apoptosis|apoptosis|carbohydrate transport|negative regulation of glucose import	cytoplasm|microtubule associated complex	protein binding			large_intestine(1)|lung(4)	5	all_cancers(52;3.11e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATCACCCTTGAAGATCTAGA	0.532													14	112					8.60227e-14	9.60254e-14	1	1	0	T	160181386	G	T	160181386	4	4	253	1	0	0	0	0	0	1	0	0	11711	1291	45	5	54	5	PEA15	1	160181386	Nonsense_Mutation	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08	2690455	160181386	89069235	3	11074											
DENND1B	163486	broad.mit.edu	37	chr1	197611924	197611924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcatgttgttcacatccaCggcaacaaaatattctgtaa	14	11	6	10	1	2	0	1	0	1	0	3	0	3	0	1	1	2	5	1	1	5	5			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr1:197611924C>T	uc021pgu.1	-	9	927	c.589G>A	c.(589-591)Gtg>Atg	p.V197M	DENND1B_uc010ppf.2_Non-coding_Transcript|DENND1B_uc001guf.3_Missense_Mutation_p.V197M|DENND1B_uc001gue.3_Missense_Mutation_p.V167M|DENND1B_uc001gug.4_5'UTR	NM_001195215	NP_001182144	Q6P3S1	DEN1B_HUMAN	Homo sapiens DENN/MADD domain containing 1B (DENND1B), transcript variant 3, mRNA.	197	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity	p.A197A(1)		NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						TTCACATCCACGGCAACAAAA	0.373													4	20					0	0	1	0	0	T	197611924	C	T	197611924	3	4	253	1	0	0	0	0	1	0	0	0	4427	536	19	1	1835	1	DENND1B	1	197611924	Missense_Mutation	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08	37430538	197611924	51638697	4	11075											
PCBP1	5093	broad.mit.edu	37	chr2	70315908	70315908	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcccagtatctaatcaatGccaggctttcctctgagaag	10	11	9	11	0	3	1	1	1	2	1	4	2	4	1	3	2	1	2	3	2	4	3			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr2:70315908G>C	uc002sgf.3	+	0	1324	c.1033G>C	c.(1033-1035)Gcc>Ccc	p.A345P	PCBP1-AS1_uc002sga.3_5'Flank|PCBP1-AS1_uc002sgb.1_5'Flank|PCBP1-AS1_uc002sge.1_5'Flank	NM_006196	NP_006187	Q15365	PCBP1_HUMAN	Homo sapiens poly(rC) binding protein 1 (PCBP1), mRNA.	345					nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	RNA binding|protein binding|single-stranded DNA binding	p.A345V(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						TCTAATCAATGCCAGGCTTTC	0.498													13	37					0	0	1	0	0	C	70315908	G	C	70315908	3	2	253	1	0	0	0	0	1	0	0	0	11500	1319	46	5	1035	5	PCBP1	2	70315908	Missense_Mutation	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08		70315908	172883465	5	11076											
MYO7B	4648	broad.mit.edu	37	chr2	128389239	128389239	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccaccctggagctcaccgaCcagatcttcacactggccct	8	7	7	19	1	3	1	2	0	1	1	3	3	3	2	5	2	1	1	5	2	0	1			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr2:128389239C>A	uc002top.3	+	36	5135	c.5082C>A	c.(5080-5082)gaC>gaA	p.D1694E	MYO7B_uc002tos.2_5'Flank	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	1694	MyTH4 2.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGCTCACCGACCAGATCTTCA	0.647													4	56					0.014758	0.015072	1	1	0	A	128389239	C	A	128389239	3	1	253	1	0	0	0	0	1	0	0	0	10083	506	18	5	5224	5	MYO7B	2	128389239	Missense_Mutation	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08	58073331	128389239	114810134	6	11077											
TTN	7273	broad.mit.edu	37	chr2	179500810	179500810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccgcatcaagccaatgaCgcctggcacaattcggccag	11	5	10	15	3	1	1	1	1	0	0	2	1	1	1	4	2	2	2	4	2	3	1	rs149059189	by1000genomes	TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr2:179500810C>T	uc021vsy.1	-	174	34009	c.33784G>A	c.(33784-33786)Gtc>Atc	p.V11262I	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V4957I|TTN_uc021vta.1_Missense_Mutation_p.V4890I|TTN_uc021vtb.1_Missense_Mutation_p.V4765I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12189	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGCCAATGACGCCTGGCACA	0.512													17	75					0	0	1	0	0	T	179500810	C	T	179500810	3	4	253	1	0	0	0	0	1	0	0	0	16732	536	19	1	66753	1	TTN	2	179500810	Missense_Mutation	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08	51111571	179500810	63698563	7	11078											
AOX1	316	broad.mit.edu	37	chr2	201478596	201478596	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagtctcccttttgggctcGgcgccaggtgggaaagtgga	7	9	16	9	2	1	0	0	0	1	0	3	3	1	2	2	5	0	1	2	5	2	2			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr2:201478596G>A	uc002uvx.3	+	14	1619	c.1518G>A	c.(1516-1518)tcG>tcA	p.S506S	AOX1_uc010zhf.2_Silent_p.S62S|AOX1_uc010fsu.3_5'UTR	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	506					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTTTGGGCTCGGCGCCAGGTG	0.473													11	35					0	0	1	0	0	A	201478596	G	A	201478596	2	1	253	1	0	0	0	0	0	0	0	1	729	1103	39	2		2	AOX1	2	201478596	Silent	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08	21977786	201478596	41720777	8	11079											
NRP2	8828	broad.mit.edu	37	chr2	206605324	206605324	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacaaggtttgttagaatcCgccctcagacctggcactca	10	10	9	12	1	2	3	2	1	0	2	3	3	3	3	3	2	0	3	3	2	3	2			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr2:206605324C>T	uc002vaw.3	+	7	2019	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C	NRP2_uc002vat.3_Missense_Mutation_p.R410C|NRP2_uc002vau.3_Missense_Mutation_p.R410C|NRP2_uc002vav.3_Missense_Mutation_p.R410C|NRP2_uc002vax.3_Missense_Mutation_p.R410C|NRP2_uc002vay.3_Missense_Mutation_p.R410C|NRP2_uc010fud.3_Missense_Mutation_p.R410C	NM_201266	NP_957718	O60462	NRP2_HUMAN	Homo sapiens neuropilin 2 (NRP2), transcript variant 1, mRNA.	410	F5/8 type C 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	p.R410C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TGTTAGAATCCGCCCTCAGAC	0.557													20	69					0	0	1	0	0	T	206605324	C	T	206605324	3	4	253	1	0	0	0	0	1	0	0	0	10661	652	23	2	1258	2	NRP2	2	206605324	Missense_Mutation	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08	5126728	206605324	36594049	9	11080											
ALPP	250	broad.mit.edu	37	chr2	233246473	233246475	+	In_Frame_Del	DEL	CTG	CTG	-																															ttcctctgctggccgggaccCtgctgctgctggagacggcc																								rs1048998		TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr2:233246473_233246475delCTG	uc002vsq.3	+	10	1741_1743	c.1576_1578delCTG	c.(1576-1578)ctgdel	p.L529del		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	529						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGCCGGGACCCTGCTGCTGCTGG	0.734													2	4	---	---	---	---						-	233246475	CTG	-	233246473	7	5	253	1	0	1	0	1	0	0	0	0	548	680	24	0	1618	0	ALPP	2	233246473	In_Frame_Del	DEL	CTG	TCGA-HT-A617-01A-11D-A29Q-08	26641149	233246473	9952900	10	11081											
CYP8B1	1582	broad.mit.edu	37	chr3	42916689	42916689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaagaaggtcaaacttgCggaactccatgaataactct	16	8	9	8	1	2	2	1	1	1	1	3	4	3	4	1	3	4	0	1	3	7	2			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr3:42916689C>T	uc003cmh.3	-	0	945	c.620G>A	c.(619-621)cGc>cAc	p.R207H	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	207					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		GTCAAACTTGCGGAACTCCAT	0.527													5	98					0	0	1	0	0	T	42916689	C	T	42916689	3	4	253	1	0	0	0	0	1	0	0	0	4198	768	27	1	889	1	CYP8B1	3	42916689	Missense_Mutation	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08		42916689	155105741	11	11082											
NISCH	11188	broad.mit.edu	37	chr3	52489675	52489675	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatggcgaccgcgcgcacCttcgggcccgagcgggaagc	8	3	15	15	7	0	0	0	0	0	0	1	3	0	1	3	3	3	1	3	3	2	1			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr3:52489675C>T	uc003ded.4	+	0	152	c.18C>T	c.(16-18)acC>acT	p.T6T	TNNC1_uc003deb.3_5'Flank|NISCH_uc003dec.1_Silent_p.T6T	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	6	Necessary for binding to phosphoinositide-3-P; not sufficient for targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CCGCGCGCACCTTCGGGCCCG	0.746													4	10					0	0	1	0	0	T	52489675	C	T	52489675	2	4	253	1	0	0	0	0	0	0	0	1	10432	668	24	3		3	NISCH	3	52489675	Silent	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08	9572986	52489675	145532755	12	11083											
GRAMD1C	54762	broad.mit.edu	37	chr3	113563352	113563352	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgatatttgtttccaggtGatgaatgaaggggattcaag	11	15	12	3	0	1	4	1	4	0	0	2	5	2	5	1	3	0	1	1	3	4	5			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr3:113563352G>T	uc003eaq.4	+	1	106	c.30G>T	c.(28-30)gtG>gtT	p.V10V	GRAMD1C_uc011bil.2_Non-coding_Transcript|GRAMD1C_uc011bim.1_Non-coding_Transcript	NM_017577	NP_001165576	Q8IYS0	GRM1C_HUMAN	Homo sapiens GRAM domain containing 1C (GRAMD1C), transcript variant 1, mRNA.	10						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						GTTTCCAGGTGATGAATGAAG	0.318													4	71					1	1	1	1	0	T	113563352	G	T	113563352	2	4	253	1	0	0	0	0	0	0	0	1	6749	1277	45	5		5	GRAMD1C	3	113563352	Silent	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08	61073677	113563352	84459078	13	11084											
ADD1	118	broad.mit.edu	37	chr4	2877687	2877687	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggtgacctcaccacccccGaccacagcccctcacaagga	10	4	8	19	1	2	1	2	1	0	0	2	3	2	2	7	2	1	0	7	2	1	0	rs140936293		TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr4:2877687G>A	uc003gfq.3	+	1	233	c.45G>A	c.(43-45)ccG>ccA	p.P15P	ADD1_uc010ico.1_Silent_p.P15P|ADD1_uc003gfo.3_Silent_p.P15P|ADD1_uc003gfp.3_Silent_p.P15P|ADD1_uc003gfr.3_Silent_p.P15P|ADD1_uc003gfs.3_Silent_p.P15P|ADD1_uc003gft.3_Silent_p.P15P	NM_014189	NP_054908	P35611	ADDA_HUMAN	Homo sapiens adducin 1 (alpha) (ADD1), transcript variant 2, mRNA.	15					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	F-actin capping protein complex|cytosol|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CACCACCCCCGACCACAGCCC	0.478													24	146					0	0	1	0	0	A	2877687	G	A	2877687	2	1	253	1	0	0	0	0	0	0	0	1	304	1045	37	2		2	ADD1	4	2877687	Silent	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08		2877687	188276589	14	11085											
NFXL1	152518	broad.mit.edu	37	chr4	47850315	47850315	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttcctgttcttcttccgAcgacccttcagtctgttttc	3	19	5	14	2	4	0	1	0	3	0	7	2	6	0	3	0	0	2	3	0	0	8			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr4:47850315A>T	uc010igh.3	-	22	2778	c.2601T>A	c.(2599-2601)cgT>cgA	p.R867R	NFXL1_uc003gxo.3_Silent_p.R192R|NFXL1_uc003gxp.3_Silent_p.R867R|NFXL1_uc003gxq.4_Non-coding_Transcript|NFXL1_uc010igi.3_Silent_p.R867R	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding-like 1 (NFXL1), mRNA.	867						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						TCTTCTTCCGACGACCCTTCA	0.348													7	29					0	0	1	0	0	T	47850315	A	T	47850315	2	4	253	1	0	0	0	0	0	0	0	1	10388	262	10	5		5	NFXL1	4	47850315	Silent	SNP	A	TCGA-HT-A617-01A-11D-A29Q-08	44972628	47850315	143303961	15	11086											
TMEM150C	441027	broad.mit.edu	37	chr4	83417256	83417256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taaggtcattccgaaggaagCcagacacagagccaccaatc	15	5	9	12	1	1	2	1	0	0	2	3	4	2	3	4	2	2	0	4	2	4	2			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr4:83417256C>T	uc011ccj.1	-	5	533	c.418G>A	c.(418-420)Gct>Act	p.A140T	TMEM150C_uc003hmy.1_Missense_Mutation_p.A110T	NM_001080506	NP_001073975	B9EJG8	T150C_HUMAN	Homo sapiens transmembrane protein 150C (TMEM150C), mRNA.	110						integral to membrane				ovary(1)	1						CCGAAGGAAGCCAGACACAGA	0.453													13	90					0	0	1	0	0	T	83417256	C	T	83417256	3	4	253	1	0	0	0	0	1	0	0	0	16066	739	26	3	433	3	TMEM150C	4	83417256	Missense_Mutation	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08	35566941	83417256	107737020	16	11087											
DCLK2	166614	broad.mit.edu	37	chr4	151153904	151153904	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatggcagtgccatggtgtAcaacttagccaatgccctca	11	9	10	11	0	1	1	1	0	0	1	1	1	1	1	3	2	5	2	3	2	4	2			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr4:151153904A>G	uc003ilo.4	+	10	2295	c.1541A>G	c.(1540-1542)tAc>tGc	p.Y514C	DCLK2_uc003ilp.4_Non-coding_Transcript|DCLK2_uc003ilm.4_Missense_Mutation_p.Y497C|DCLK2_uc003iln.4_Missense_Mutation_p.Y496C	NM_001040261	NP_001035351	Q8N568	DCLK2_HUMAN	Homo sapiens doublecortin-like kinase 2 (DCLK2), transcript variant 2, mRNA.	497	Protein kinase.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GCCATGGTGTACAACTTAGCC	0.448													28	147					0	0	1	0	0	G	151153904	A	G	151153904	3	3	253	1	0	0	0	0	1	0	0	0	4292	391	14	3	1528	3	DCLK2	4	151153904	Missense_Mutation	SNP	A	TCGA-HT-A617-01A-11D-A29Q-08	67736648	151153904	40000372	17	11088											
RELN	5649	broad.mit.edu	37	chr7	103132428	103132428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttagtgtattccagcattaCggaatgaaggtcaccacaag	13	10	9	9	1	1	1	1	1	0	0	2	2	2	2	2	2	2	2	2	2	6	4			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr7:103132428C>T	uc022ajr.1	-	57	9575	c.9415G>A	c.(9415-9417)Gta>Ata	p.V3139I	RELN_uc022ajq.1_Missense_Mutation_p.V3139I|RELN_uc010liz.3_Missense_Mutation_p.V3139I	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3139					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCAGCATTACGGAATGAAGG	0.368													4	27					0	0	1	0	0	T	103132428	C	T	103132428	3	4	253	1	0	0	0	0	1	0	0	0	13220	536	19	1	999	1	RELN	7	103132428	Missense_Mutation	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08		103132428	56006235	18	11089											
AGAP3	116988	broad.mit.edu	37	chr7	150840451	150840451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaggaacgctggatacGggccaagtatgaacagaagc	15	4	15	7	2	0	3	0	1	0	2	0	6	0	5	1	4	4	2	1	4	7	2			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr7:150840451G>A	uc003wjg.1	+	16	2300	c.2297G>A	c.(2296-2298)cGg>cAg	p.R766Q	AGAP3_uc003wje.1_Missense_Mutation_p.R435Q|AGAP3_uc003wjj.1_Missense_Mutation_p.R265Q|AGAP3_uc003wjk.1_Missense_Mutation_p.R184Q	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	730					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CGCTGGATACGGGCCAAGTAT	0.627													14	75					0	0	1	0	0	A	150840451	G	A	150840451	3	1	253	1	0	0	0	0	1	0	0	0	369	1116	39	2	2430	2	AGAP3	7	150840451	Missense_Mutation	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08	47708023	150840451	8298212	19	11090											
KCNU1	157855	broad.mit.edu	37	chr8	36671862	36671862	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccaagacatccttaggacgGaccttcatcatgttcttcac	10	11	7	13	1	4	1	3	0	1	1	5	3	5	3	3	2	0	1	3	2	2	4			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr8:36671862G>T	uc010lvw.3	+	7	957	c.870G>T	c.(868-870)cgG>cgT	p.R290R	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	290						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCTTAGGACGGACCTTCATCA	0.353													10	18					3.07112e-06	3.35031e-06	1	1	0	T	36671862	G	T	36671862	2	4	253	1	0	0	0	0	0	0	0	1	8093	1161	41	5		5	KCNU1	8	36671862	Silent	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08		36671862	109692160	20	11091											
PKHD1L1	93035	broad.mit.edu	37	chr8	110468612	110468612	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacattgtaattgcaagcacAggacacaggtatgatatctt	15	11	8	7	0	1	1	0	1	1	0	1	2	1	2	0	2	3	4	0	2	5	6			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr8:110468612A>G	uc003yne.3	+	45	7100	c.6996A>G	c.(6994-6996)acA>acG	p.T2332T		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2332					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGCAAGCACAGGACACAGGT	0.368										HNSCC(38;0.096)			3	9					0	0	1	0	0	G	110468612	A	G	110468612	2	3	253	1	0	0	0	0	0	0	0	1	11972	175	7	4		4	PKHD1L1	8	110468612	Silent	SNP	A	TCGA-HT-A617-01A-11D-A29Q-08	73796750	110468612	35895410	21	11092											
COL5A1	1289	broad.mit.edu	37	chr9	137704486	137704486	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcccccgaggaccctcCggagctccaggtgctgatgg	5	6	14	16	2	0	1	0	1	0	0	2	4	2	3	6	5	2	2	6	5	0	0	rs150591401	byFrequency	TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr9:137704486C>T	uc004cfe.3	+	47	4162	c.3780C>T	c.(3778-3780)tcC>tcT	p.S1260S		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1260	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GAGGACCCTCCGGAGCTCCAG	0.637													4	10					0	0	1	0	0	T	137704486	C	T	137704486	2	4	253	1	0	0	0	0	0	0	0	1	3696	639	23	2		2	COL5A1	9	137704486	Silent	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08		137704486	3508945	22	11093											
ABTB2	25841	broad.mit.edu	37	chr11	34184211	34184211	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agggccttggtgcgggtccgGctcagccgcacgggcccctc	3	6	16	16	4	1	0	1	0	0	0	3	0	2	0	5	5	2	2	5	5	0	1			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr11:34184211G>A	uc001mvl.2	-	9	2555	c.2130C>T	c.(2128-2130)agC>agT	p.S710S		NM_145804	NP_665803	A8K6S9	A8K6S9_HUMAN	Homo sapiens ankyrin repeat and BTB (POZ) domain containing 2 (ABTB2), mRNA.	524							DNA binding	p.H710R(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TGCGGGTCCGGCTCAGCCGCA	0.662													4	70					0	0	1	0	0	A	34184211	G	A	34184211	2	1	253	1	0	0	0	0	0	0	0	1	103	1194	42	3		3	ABTB2	11	34184211	Silent	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08		34184211	100822305	23	11094											
ATF7IP2	80063	broad.mit.edu	37	chr16	10524502	10524502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagtccagatagaagtaaaCggaagatattaaaagccaaa	21	6	8	6	1	0	3	0	0	0	3	1	4	1	4	2	1	2	1	2	1	10	4	rs140651559		TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr16:10524502C>T	uc002czw.3	+	1	184	c.25C>T	c.(25-27)Cgg>Tgg	p.R9W	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Missense_Mutation_p.R9W|ATF7IP2_uc002czv.3_Missense_Mutation_p.R9W|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						TAGAAGTAAACGGAAGATATT	0.348													9	41					0	0	1	0	0	T	10524502	C	T	10524502	3	4	253	1	0	0	0	0	1	0	0	0	1088	527	19	1	27	1	ATF7IP2	16	10524502	Missense_Mutation	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08		10524502	79830251	24	11095											
CDH1	999	broad.mit.edu	37	chr16	68846137	68846137	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcacagtcactgacaccaacGataatcctccgatcttcaat	13	10	4	14	2	4	1	3	1	1	0	6	3	6	1	3	0	1	0	3	0	3	2			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr16:68846137G>A	uc002ewg.1	+	7	1232	c.1108G>A	c.(1108-1110)Gat>Aat	p.D370N	CDH1_uc010vlj.1_Non-coding_Transcript|CDH1_uc010cfg.1_Missense_Mutation_p.D370N	NM_004360	NP_004351	P12830	CADH1_HUMAN	Homo sapiens cadherin 1, type 1, E-cadherin (epithelial) (CDH1), mRNA.	370	Cadherin 2.		D -> A (in a diffuse gastric cancer sample).		adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	Golgi apparatus|actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.D370H(6)|p.S337_T379del(4)|p.?(1)|p.N369N(1)|p.D370A(1)|p.N369D(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TGACACCAACGATAATCCTCC	0.458			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer				18	63					0	0	1	0	0	A	68846137	G	A	68846137	3	1	253	1	0	0	0	0	1	0	0	0	3095	1058	37	2	1138	2	CDH1	16	68846137	Missense_Mutation	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08	58321635	68846137	21508616	25	11096											
MED1	5469	broad.mit.edu	37	chr17	37565209	37565209	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctgcctgaggaagacaCagaaccactgctggtatact	11	10	10	10	0	0	3	0	1	0	2	0	4	0	4	2	2	5	3	2	2	4	3			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr17:37565209C>T	uc002hrv.4	-	16	3477	c.3265G>A	c.(3265-3267)Gtg>Atg	p.V1089M	MED1_uc010wee.2_Missense_Mutation_p.V917M|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	Homo sapiens mediator complex subunit 1 (MED1), mRNA.	1089	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GAGGAAGACACAGAACCACTG	0.488										HNSCC(31;0.082)			21	73					0	0	1	0	0	T	37565209	C	T	37565209	3	4	253	1	0	0	0	0	1	0	0	0	9425	478	17	3	1484	3	MED1	17	37565209	Missense_Mutation	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08		37565209	43630001	26	11097											
C22orf42	150297	broad.mit.edu	37	chr22	32550285	32550285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatattatttttaaccagcGcttggagcgggcgtccaaac	10	11	9	11	3	0	0	0	0	0	0	1	1	1	1	3	2	4	1	3	2	4	6			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr22:32550285G>A	uc003amd.3	-	1	294	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C		NM_001010859	NP_001010859	Q6IC83	CV042_HUMAN	Homo sapiens chromosome 22 open reading frame 42 (C22orf42), mRNA.	85										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						TTTAACCAGCGCTTGGAGCGG	0.393													9	56					0	0	1	0	0	A	32550285	G	A	32550285	3	1	253	1	0	0	0	0	1	0	0	0	2149	1087	38	1	534	1	C22orf42	22	32550285	Missense_Mutation	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08		32550285	18754281	27	11098											
SHROOM2	357	broad.mit.edu	37	chrX	9900906	9900906	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatccaggatgaggattcaAccaggtactgtcctgcgacg	10	9	11	11	2	2	1	2	1	0	0	4	4	4	3	3	3	3	1	3	3	2	2			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chrX:9900906A>G	uc004csu.1	+	5	3673	c.3583A>G	c.(3583-3585)Acc>Gcc	p.T1195A	SHROOM2_uc004csv.2_Missense_Mutation_p.T30A|SHROOM2_uc011mic.1_Missense_Mutation_p.T30A|SHROOM2_uc004csw.1_Missense_Mutation_p.T30A	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	1195					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TGAGGATTCAACCAGGTACTG	0.627													14	23					0	0	1	0	0	G	9900906	A	G	9900906	3	3	253	1	0	0	0	0	1	0	0	0	14294	43	2	3	3605	3	SHROOM2	23	9900906	Missense_Mutation	SNP	A	TCGA-HT-A617-01A-11D-A29Q-08		9900906	145369654	28	11099											
ABCA4	24	broad.mit.edu	37	chr1	94480119	94480119	+	Nonsense_Mutation	SNP	C	C	A																															ccggttattctcaaataattCcaagatgaaggtaatagcac																										TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr1:94480119C>A	uc001dqh.3	-	37	5544	c.5440G>T	c.(5440-5442)Gaa>Taa	p.E1814*	ABCA4_uc009wdp.1_Nonsense_Mutation_p.E82*	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1814					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCAAATAATTCCAAGATGAAG	0.438													32	169					6.00712e-18	6.82628e-18	1	1	0	A	94480119	C	A	94480119	4	1	254	1	0	0	0	0	0	1	0	0	34	864	30	5	1433	5	ABCA4	1	94480119	Nonsense_Mutation	SNP	C	TCGA-HT-A618-01A-11D-A29Q-08		94480119	154770502	1	11100	36	2									
ABCA4	24	broad.mit.edu	37	chr1	94480120	94480120	+	Missense_Mutation	SNP	C	C	A																															cggttattctcaaataattcCaagatgaaggtaatagcact																										TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr1:94480120C>A	uc001dqh.3	-	37	5543	c.5439G>T	c.(5437-5439)ttG>ttT	p.L1813F	ABCA4_uc009wdp.1_Missense_Mutation_p.L81F	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1813					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CAAATAATTCCAAGATGAAGG	0.438													32	172					6.00712e-18	6.82628e-18	1	1	0	A	94480120	C	A	94480120	3	1	254	1	0	0	0	0	1	0	0	0	34	593	21	5	1434	5	ABCA4	1	94480120	Missense_Mutation	SNP	C	TCGA-HT-A618-01A-11D-A29Q-08	1	94480120	154770501	2	11101	36	2									
FLG	2312	broad.mit.edu	37	chr1	152282080	152282080	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtagaggaaagaccctgaaCgtccagacctttcccctgac	11	7	10	13	1	0	5	0	2	0	3	2	6	2	6	5	2	1	1	5	2	3	2			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr1:152282080C>T	uc001ezu.1	-	2	5318	c.5282G>A	c.(5281-5283)cGt>cAt	p.R1761H		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1761	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G1760A(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCCTGAACGTCCAGACCT	0.602									Ichthyosis				36	394					0	0	1	0	0	T	152282080	C	T	152282080	3	4	254	1	0	0	0	0	1	0	0	0	5922	536	19	1	6907	1	FLG	1	152282080	Missense_Mutation	SNP	C	TCGA-HT-A618-01A-11D-A29Q-08	57801960	152282080	96968541	3	11102											
MUC1	4582	broad.mit.edu	37	chr1	155161799	155161799	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatcgtgggctggcggggTggtggagcccagggctggcc	4	6	21	10	2	0	0	0	0	0	0	1	2	0	1	2	8	1	2	2	8	0	0			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr1:155161799T>G	uc021pap.1	-	1	433	c.361A>C	c.(361-363)Acc>Ccc	p.T121P	MUC1_uc001fhz.3_5'Flank|MUC1_uc001fhy.3_5'Flank|MUC1_uc010pfb.2_Intron|MUC1_uc010pfh.2_Intron|MUC1_uc010pff.2_Intron|MUC1_uc010pfi.2_Intron|MUC1_uc010pfj.2_Intron|MUC1_uc010pfk.2_Intron|MUC1_uc010pfl.2_Intron|MUC1_uc010pfc.2_Intron|MUC1_uc009wph.3_Intron|MUC1_uc010pfe.2_Intron|MUC1_uc009wpi.3_Intron|MUC1_uc010pfg.2_Intron|MUC1_uc010pfd.2_Intron|MUC1_uc009wpy.3_Intron|MUC1_uc009wpu.3_Intron|MUC1_uc010pfm.2_Intron|MUC1_uc001fiq.3_Intron|MUC1_uc009wqa.3_Intron|MUC1_uc010pfn.2_Intron|MUC1_uc009wpn.3_Intron|MUC1_uc010pfo.2_Intron|MUC1_uc009wpw.3_Intron|MUC1_uc001fim.3_Intron|MUC1_uc001fil.3_Intron|MUC1_uc010pfp.2_Intron|MUC1_uc001fij.3_Intron|MUC1_uc009wqc.3_Intron|MUC1_uc009wqd.3_Intron|MUC1_uc001fia.3_Intron|MUC1_uc009wqb.3_Intron|MUC1_uc009wpx.3_Intron|MUC1_uc010pfq.2_Intron|MUC1_uc001fid.3_Intron|MUC1_uc001fit.3_Intron|MUC1_uc009wpz.3_Intron|MUC1_uc001fii.3_Intron|MUC1_uc001fik.3_Intron|MUC1_uc009wpo.3_Intron|MUC1_uc010pfr.2_Intron|MUC1_uc001fih.3_Intron|MUC1_uc001fio.3_Intron|MUC1_uc009wqe.3_Intron|MUC1_uc009wpl.3_Intron|MUC1_uc009wpp.3_Intron|MUC1_uc009wpm.3_Intron|MUC1_uc009wpk.3_Intron|MUC1_uc010pfs.2_Intron|MUC1_uc001fip.3_Intron|MUC1_uc021paq.1_Missense_Mutation_p.T112P|MUC1_uc009wqg.3_Intron|MUC1_uc009wqf.3_Intron|MUC1_uc001fic.3_Intron|MUC1_uc009wps.3_Intron|MUC1_uc001fie.3_Intron|MUC1_uc009wpt.3_Intron|MUC1_uc009wpq.3_Intron|MUC1_uc009wpr.3_Intron|MUC1_uc001fig.3_Intron|MUC1_uc001fif.3_Intron|MUC1_uc001fin.3_Intron|MUC1_uc009wpj.3_Intron|MUC1_uc009wpv.3_Intron|MUC1_uc001fib.3_Intron|MUC1_uc001fis.2_Intron|MUC1_uc001fiv.2_Missense_Mutation_p.T121P|MUC1_uc001fiw.2_Missense_Mutation_p.T112P|DM075093_uc021par.1_5'Flank	NM_001204286	NP_001191215	P15941	MUC1_HUMAN	Homo sapiens mucin 1, cell surface associated (MUC1), transcript variant 10, mRNA.	892						apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGGCGGGGTGGTGGAGCCC	0.711			T	IGH@	B-NHL								11	17					0	0	1	0	0	G	155161799	T	G	155161799	3	3	254	1	0	0	0	0	1	0	0	0	9970	1711	59	5		5	MUC1	1	155161799	Missense_Mutation	SNP	T	TCGA-HT-A618-01A-11D-A29Q-08	2879719	155161799	94088822	4	11103											
PRG4	10216	broad.mit.edu	37	chr1	186276640	186276640	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaacctgcacccaccaccAccaagaagcctgcacccacc	13	2	6	20	0	0	1	0	0	0	1	0	2	0	2	8	1	4	2	8	1	3	0			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr1:186276640A>C	uc001gru.4	+	6	1840	c.1789A>C	c.(1789-1791)Acc>Ccc	p.T597P	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.T556P|PRG4_uc009wyl.3_Missense_Mutation_p.T504P|PRG4_uc009wym.3_Missense_Mutation_p.T463P|PRG4_uc010poo.2_Intron	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	597	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	p.T597P(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						ACCCACCACCACCAAGAAGCC	0.652													8	146					0	0	1	0	0	C	186276640	A	C	186276640	3	2	254	1	0	0	0	0	1	0	0	0	12481	159	6	5	1811	5	PRG4	1	186276640	Missense_Mutation	SNP	A	TCGA-HT-A618-01A-11D-A29Q-08	31114841	186276640	62973981	5	11104											
OR2M2	391194	broad.mit.edu	37	chr1	248343709	248343709	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcatgaatcctaaaatttGtggacttatggctaccttct	10	16	6	9	0	2	1	1	1	2	0	4	2	3	2	2	2	1	1	2	2	5	5			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr1:248343709G>T	uc010pzf.2	+	0	422	c.422G>T	c.(421-423)tGt>tTt	p.C141F		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCTAAAATTTGTGGACTTATG	0.423													12	283					2.27111e-07	2.52346e-07	1	1	0	T	248343709	G	T	248343709	3	4	254	1	0	0	0	0	1	0	0	0	11010	1377	48	5	424	5	OR2M2	1	248343709	Missense_Mutation	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08	62067069	248343709	906912	6	11105											
APOB	338	broad.mit.edu	37	chr2	21228468	21228468	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcaagtttgcacgatggaaCctgaagatctgtaaatggga	13	10	12	6	1	2	2	1	1	1	1	2	5	2	4	1	2	2	3	1	2	5	2			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr2:21228468C>A	uc002red.3	-	25	11400	c.11272G>T	c.(11272-11274)Gtt>Ttt	p.V3758F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3758					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CACGATGGAACCTGAAGATCT	0.388													28	138					2.4375e-19	2.90178e-19	1	1	0	A	21228468	C	A	21228468	3	1	254	1	0	0	0	0	1	0	0	0	785	507	18	5	2435	5	APOB	2	21228468	Missense_Mutation	SNP	C	TCGA-HT-A618-01A-11D-A29Q-08		21228468	221970905	7	11106											
CGREF1	10669	broad.mit.edu	37	chr2	27325300	27325300	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggtagctctgcagaagtcTgtcagaaaagtggagaatca	14	9	12	6	0	4	3	2	0	2	3	4	4	4	3	0	2	2	3	0	2	6	2			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr2:27325300T>C	uc010eyr.2	-	3	518	c.513_splice	c.e3-1	p.G171_splice	CGREF1_uc010ylf.2_Splice_Site|CGREF1_uc021vez.1_Splice_Site_p.G49_splice|CGREF1_uc002riq.3_Splice_Site_p.G49_splice|CGREF1_uc021vfa.1_Splice_Site_p.G49_splice|CGREF1_uc010eys.2_Splice_Site_p.G49_splice|CGREF1_uc002rir.2_Splice_Site_p.G49_splice	NM_006569	NP_006560	Q99674	CGRE1_HUMAN	Homo sapiens cell growth regulator with EF-hand domain 1 (CGREF1), transcript variant 1, mRNA.	49					cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCAGAAGTCTGTCAGAAAAG	0.617													4	55					0	0	1	0	0	C	27325300	T	C	27325300	5	2	254	1	0	0	0	0	0	0	1	0	3305	1594	55	4	1015	4	CGREF1	2	27325300	Splice_Site	SNP	T	TCGA-HT-A618-01A-11D-A29Q-08	6096832	27325300	215874073	8	11107											
TTN	7273	broad.mit.edu	37	chr2	179430063	179430063	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtgcaaaacagttgaggtAgctgtttcttcaacgtttac	11	14	9	7	1	2	1	1	1	1	0	2	1	2	1	0	1	5	6	0	1	5	6			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr2:179430063A>T	uc021vsy.1	-	274	73317	c.73092T>A	c.(73090-73092)gcT>gcA	p.A24364A	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.A18059A|TTN_uc021vta.1_Silent_p.A17992A|TTN_uc021vtb.1_Silent_p.A17867A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25291	Fibronectin type-III 77.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTTGAGGTAGCTGTTTCTT	0.398													4	127					0	0	1	0	0	T	179430063	A	T	179430063	2	4	254	1	0	0	0	0	0	0	0	1	16732	407	15	5		5	TTN	2	179430063	Silent	SNP	A	TCGA-HT-A618-01A-11D-A29Q-08	152104763	179430063	63769310	9	11108											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								5	40					0	0	1	0	0	T	209113112	C	T	209113112	3	4	254	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A618-01A-11D-A29Q-08	29683049	209113112	34086261	10	11109											
POLN	353497	broad.mit.edu	37	chr4	2073954	2073954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcgacatgggcctggcggagGgccccaggcctcctgcagtg	5	5	17	14	2	0	0	0	0	0	0	1	2	1	1	5	5	1	1	5	5	0	0			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr4:2073954G>A	uc003ger.2	-	23	2602	c.2590C>T	c.(2590-2592)Cct>Tct	p.P864S	POLN_uc010icg.1_Missense_Mutation_p.P303S	NM_181808	NP_861524	Q7Z5Q5	DPOLN_HUMAN	Homo sapiens polymerase (DNA directed) nu (POLN), mRNA.	864					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	p.G863C(1)		kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CCTGGCGGAGGGCCCCAGGCC	0.692								DNA polymerases (catalytic subunits)					8	64					0	0	1	0	0	A	2073954	G	A	2073954	3	1	254	1	0	0	0	0	1	0	0	0	12207	1232	43	3	116	3	POLN	4	2073954	Missense_Mutation	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08		2073954	189080322	11	11110											
SH3BP2	6452	broad.mit.edu	37	chr4	2834097	2834097	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccggggagagccccaggaTggactctactgcatccggaa	9	5	13	14	2	1	1	0	0	1	1	2	5	2	4	5	5	3	1	5	5	2	1			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr4:2834097T>A	uc003gfi.4	+	10	1566	c.1446T>A	c.(1444-1446)gaT>gaA	p.D482E	SH3BP2_uc011bvp.2_Missense_Mutation_p.D510E|SH3BP2_uc003gfj.4_Missense_Mutation_p.D539E|SH3BP2_uc003gfk.4_Missense_Mutation_p.D482E|SH3BP2_uc003gfl.4_Missense_Mutation_p.D415E|SH3BP2_uc003gfm.4_Missense_Mutation_p.D457E	NM_001122681	NP_003014	P78314	3BP2_HUMAN	Homo sapiens SH3-domain binding protein 2 (SH3BP2), transcript variant 2, mRNA.	482	SH2.				signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		AGCCCCAGGATGGACTCTACT	0.592									Cherubism				7	178					0	0	1	0	0	A	2834097	T	A	2834097	3	1	254	1	0	0	0	0	1	0	0	0	14245	1461	51	5	1743	5	SH3BP2	4	2834097	Missense_Mutation	SNP	T	TCGA-HT-A618-01A-11D-A29Q-08	760143	2834097	188320179	12	11111											
FBXW7	55294	broad.mit.edu	37	chr4	153244137	153244137	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtttgaggctctgatccGccacacaactcccccactcc	7	10	7	17	1	1	2	0	2	1	0	4	2	4	2	5	1	1	2	5	1	1	1	rs140856583	byFrequency	TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr4:153244137G>A	uc003ims.3	-	11	2182	c.2020C>T	c.(2020-2022)Cgg>Tgg	p.R674W	FBXW7_uc011cii.2_Missense_Mutation_p.R674W|FBXW7_uc003imt.3_Missense_Mutation_p.R674W|FBXW7_uc011cih.2_Missense_Mutation_p.R498W|FBXW7_uc003imq.3_Missense_Mutation_p.R594W|FBXW7_uc003imr.3_Missense_Mutation_p.R556W	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	674					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of Notch signaling pathway|negative regulation of hepatocyte proliferation|negative regulation of triglyceride biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of epidermal growth factor receptor activity|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|sister chromatid cohesion|vasculature development	SCF ubiquitin ligase complex|nucleolus|nucleoplasm	protein binding	p.R674R(1)|p.?(1)|p.R674Q(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GCTCTGATCCGCCACACAACT	0.493			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								49	109					0	0	1	0	0	A	153244137	G	A	153244137	3	1	254	1	0	0	0	0	1	0	0	0	5769	1086	38	1	107	1	FBXW7	4	153244137	Missense_Mutation	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08	150410040	153244137	37910139	13	11112											
TBP	6908	broad.mit.edu	37	chr6	170871040	170871040	+	Silent	SNP	A	A	G																															cagcagcagcagcagcagcaAcagcaacagcagcagcagca																								rs10592950		TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr6:170871040A>G	uc003qxu.3	+	2	495	c.216A>G	c.(214-216)caA>caG	p.Q72Q	TBP_uc011ehf.2_Silent_p.Q52Q|TBP_uc003qxt.3_Silent_p.Q72Q|TBP_uc011ehg.1_Silent_p.Q72Q	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	72	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q72del(6)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcaacagcaacagc	0.567													5	95					0	0	1	0	0	G	170871040	A	G	170871040	2	3	254	1	0	0	0	0	0	0	0	1	15641	40	2	3		3	TBP	6	170871040	Silent	SNP	A	TCGA-HT-A618-01A-11D-A29Q-08		170871040	244027	14	11113	37	2									
TBP	6908	broad.mit.edu	37	chr6	170871046	170871046	+	Silent	SNP	A	A	G																															cagcagcagcagcaacagcaAcagcagcagcagcagcagca																								rs10592951		TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr6:170871046A>G	uc003qxu.3	+	2	501	c.222A>G	c.(220-222)caA>caG	p.Q74Q	TBP_uc011ehf.2_Silent_p.Q54Q|TBP_uc003qxt.3_Silent_p.Q74Q|TBP_uc011ehg.1_Silent_p.Q74Q	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	74	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q73Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcaacagcagcagc	0.567													6	90					0	0	1	0	0	G	170871046	A	G	170871046	2	3	254	1	0	0	0	0	0	0	0	1	15641	40	2	3		3	TBP	6	170871046	Silent	SNP	A	TCGA-HT-A618-01A-11D-A29Q-08	6	170871046	244021	15	11114	37	2									
PCLO	27445	broad.mit.edu	37	chr7	82583285	82583285	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagctactttttgttcgttcGgcctccaactcctttttatc	6	18	5	12	2	0	0	0	0	0	0	5	0	2	0	3	1	3	3	3	1	4	8			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr7:82583285G>A	uc003uhx.2	-	4	7273	c.6984C>T	c.(6982-6984)gcC>gcT	p.A2328A	PCLO_uc003uhv.2_Silent_p.A2328A|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2259	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.A2328A(3)|p.E2327D(1)|p.A2259A(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGTTCGTTCGGCCTCCAACT	0.413													22	135					0	0	1	0	0	A	82583285	G	A	82583285	2	1	254	1	0	0	0	0	0	0	0	1	11583	1103	39	2		2	PCLO	7	82583285	Silent	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08		82583285	76555378	16	11115											
EPHB4	2050	broad.mit.edu	37	chr7	100421497	100421497	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcacgctgcacgtcacaCacttcgtaggtgcgcacgct	7	7	13	14	5	1	0	1	0	0	0	2	0	1	0	0	3	2	6	0	3	1	2			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr7:100421497C>A	uc003uwn.1	-	2	671	c.180G>T	c.(178-180)gtG>gtT	p.V60V	EPHB4_uc003uwm.1_5'UTR|EPHB4_uc010lhj.1_Silent_p.V60V|EPHB4_uc011kkf.1_Silent_p.V60V|EPHB4_uc011kkg.1_Silent_p.V60V|EPHB4_uc011kkh.1_Silent_p.V60V	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	60					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCACGTCACACACTTCGTAGG	0.682													10	34					2.17888e-05	2.31795e-05	1	1	0	A	100421497	C	A	100421497	2	1	254	1	0	0	0	0	0	0	0	1	5177	465	17	5		5	EPHB4	7	100421497	Silent	SNP	C	TCGA-HT-A618-01A-11D-A29Q-08	17838212	100421497	58717166	17	11116											
PI15	51050	broad.mit.edu	37	chr8	75756325	75756325	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggccaaaatctatctgtacGcactggaaggtaggaagtaa	14	8	12	7	1	2	0	0	0	2	0	2	2	2	2	1	4	1	4	1	4	8	4			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr8:75756325G>A	uc003yal.3	+	2	562	c.383G>A	c.(382-384)cGc>cAc	p.R128H	AK024242_uc003yak.1_Intron|PI15_uc003yam.3_Missense_Mutation_p.R128H	NM_015886	NP_056970	O43692	PI15_HUMAN	Homo sapiens peptidase inhibitor 15 (PI15), mRNA.	128						extracellular region	peptidase inhibitor activity	p.R128H(2)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			CTATCTGTACGCACTGGAAGG	0.408													14	149					0	0	1	0	0	A	75756325	G	A	75756325	3	1	254	1	0	0	0	0	1	0	0	0	11868	1087	38	1	389	1	PI15	8	75756325	Missense_Mutation	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08		75756325	70607697	18	11117											
KCNQ3	3786	broad.mit.edu	37	chr8	133192522	133192522	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagggaggtggccagaacaTtgccttggtttcccacagca	9	8	13	11	0	0	1	0	0	0	1	1	2	1	2	3	4	3	3	3	4	1	3			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr8:133192522T>C	uc003ytj.3	-	3	884	c.659A>G	c.(658-660)aAt>aGt	p.N220S	KCNQ3_uc003yti.3_Missense_Mutation_p.N100S|KCNQ3_uc010mdt.3_Missense_Mutation_p.N220S	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	220					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGCCAGAACATTGCCTTGGTT	0.597													11	123					0	0	1	0	0	C	133192522	T	C	133192522	3	2	254	1	0	0	0	0	1	0	0	0	8084	1493	52	3	2007	3	KCNQ3	8	133192522	Missense_Mutation	SNP	T	TCGA-HT-A618-01A-11D-A29Q-08	57436197	133192522	13171500	19	11118											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18829917	18829917	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaccgaaccttccttcagtGctgacgtctcctctgggaac	7	10	10	14	2	3	1	1	1	2	0	5	4	4	3	4	2	3	1	4	2	2	2			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr9:18829917G>A	uc003zne.4	+	22	4343	c.4191G>A	c.(4189-4191)gtG>gtA	p.V1397V	ADAMTSL1_uc003znf.4_Silent_p.V98V	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	1397	Ig-like C2-type 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTCCTTCAGTGCTGACGTCTC	0.572													6	46					0	0	1	0	0	A	18829917	G	A	18829917	2	1	254	1	0	0	0	0	0	0	0	1	274	1306	46	3		3	ADAMTSL1	9	18829917	Silent	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08		18829917	122383514	20	11119											
LRIT2	340745	broad.mit.edu	37	chr10	85984831	85984832	+	Frame_Shift_Ins	INS	-	-	G																															actcttcagaaaggttcccaINSgggatctttcccaaggagac																										TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr10:85984831_85984832insG	uc010qmc.2	-	1	157_158	c.149_150insC	c.(148-150)cctfs	p.P50fs	LRIT2_uc001kcy.3_Frame_Shift_Ins_p.P50fs	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	50	LRRNT.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AAAGGTTCCCAGGGATCTTTCC	0.455													18	76	---	---	---	---						G	85984832	-	G	85984831	7	5	254	1	0	1	1	0	0	0	0	0	8948	175	7	0	1510	0	LRIT2	10	85984831	Frame_Shift_Ins	INS	-	TCGA-HT-A618-01A-11D-A29Q-08		85984831	49549916	21	11120											
OR4A15	81328	broad.mit.edu	37	chr11	55136013	55136013	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattgaaacttgcttgcacCaatacctatgtcactgggct	10	14	7	10	0	1	1	1	1	0	0	1	1	1	1	2	1	4	3	2	1	5	6			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr11:55136013C>A	uc010rif.2	+	0	654	c.654C>A	c.(652-654)acC>acA	p.T218T		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T218N(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTGCTTGCACCAATACCTATG	0.413													4	84					1	1	1	1	0	A	55136013	C	A	55136013	2	1	254	1	0	0	0	0	0	0	0	1	11040	581	21	5		5	OR4A15	11	55136013	Silent	SNP	C	TCGA-HT-A618-01A-11D-A29Q-08		55136013	79870503	22	11121											
OR5M11	219487	broad.mit.edu	37	chr11	56310051	56310051	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgccttccctctgctgatTtgatccggaggatggcagca	6	12	12	11	1	1	2	0	2	1	0	3	4	3	4	3	3	3	3	3	3	0	2			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr11:56310051T>C	uc010rjl.2	-	0	683	c.683A>G	c.(682-684)aAa>aGa	p.K228R	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CTCTGCTGATTTGATCCGGAG	0.498													28	62					0	0	1	0	0	C	56310051	T	C	56310051	3	2	254	1	0	0	0	0	1	0	0	0	11174	1841	64	3	237	3	OR5M11	11	56310051	Missense_Mutation	SNP	T	TCGA-HT-A618-01A-11D-A29Q-08	1174038	56310051	78696465	23	11122											
APLNR	187	broad.mit.edu	37	chr11	57003704	57003704	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtagggcatccagcacaGggcaaaggtcaccaccagca	12	4	13	12	0	1	0	1	0	0	0	2	0	2	0	3	4	2	5	3	4	2	1			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr11:57003704G>T	uc001njo.3	-	0	1224	c.775C>A	c.(775-777)Ctg>Atg	p.L259M	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	259						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						ATCCAGCACAGGGCAAAGGTC	0.612													7	66					2.0095e-06	2.18424e-06	1	1	0	T	57003704	G	T	57003704	3	4	254	1	0	0	0	0	1	0	0	0	777	991	35	5	371	5	APLNR	11	57003704	Missense_Mutation	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08	693653	57003704	78002812	24	11123											
SIPA1	6494	broad.mit.edu	37	chr11	65408860	65408860	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaccaggctgccagctcGgacctgctgcatggggcacc	7	5	15	14	1	0	0	0	0	0	0	1	3	0	2	4	5	4	5	4	5	0	0			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr11:65408860G>A	uc001ofb.2	+	1	635	c.468G>A	c.(466-468)tcG>tcA	p.S156S	SIPA1_uc010rom.1_Silent_p.S156S|SIPA1_uc001ofd.2_Silent_p.S156S	NM_006747	NP_694985	Q96FS4	SIPA1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA.	156					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CTGCCAGCTCGGACCTGCTGC	0.667													33	83					0	0	1	0	0	A	65408860	G	A	65408860	2	1	254	1	0	0	0	0	0	0	0	1	14328	1103	39	2		2	SIPA1	11	65408860	Silent	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08	8405156	65408860	69597656	25	11124											
USP44	84101	broad.mit.edu	37	chr12	95914959	95914959	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaacaccaatcttctctcGgttattacgtcctgaccacc	10	12	5	14	2	2	2	0	2	2	0	5	2	3	2	4	1	2	1	4	1	4	3			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr12:95914959G>A	uc001teg.3	-	4	1897	c.1753C>T	c.(1753-1755)Cga>Tga	p.R585*	USP44_uc001teh.3_Nonsense_Mutation_p.R585*|USP44_uc009zte.3_Nonsense_Mutation_p.R582*	NM_001042403	NP_115523	Q9H0E7	UBP44_HUMAN	Homo sapiens ubiquitin specific peptidase 44 (USP44), transcript variant 2, mRNA.	585					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						ATCTTCTCTCGGTTATTACGT	0.423													18	55					0	0	1	0	0	A	95914959	G	A	95914959	4	1	254	1	0	0	0	0	0	1	0	0	17072	1124	39	2	393	2	USP44	12	95914959	Nonsense_Mutation	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08		95914959	37936936	26	11125											
PCNX	22990	broad.mit.edu	37	chr14	71443880	71443880	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacactcacactcttatagaAaagaccaccggccgcgaggt	13	7	8	13	3	2	2	1	0	1	2	2	3	2	2	3	2	1	0	3	2	5	3			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr14:71443880A>T	uc001xmo.2	+	5	1272	c.826A>T	c.(826-828)Aaa>Taa	p.K276*	PCNX_uc001xmn.4_Nonsense_Mutation_p.K276*|PCNX_uc010are.1_Nonsense_Mutation_p.K276*	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	276						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTCTTATAGAAAAGACCACCG	0.493													19	55					0	0	1	0	0	T	71443880	A	T	71443880	4	4	254	1	0	0	0	0	0	1	0	0	11591	15	1	5	848	5	PCNX	14	71443880	Nonsense_Mutation	SNP	A	TCGA-HT-A618-01A-11D-A29Q-08		71443880	35905660	27	11126											
THSD4	79875	broad.mit.edu	37	chr15	72040864	72040864	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcaacatgaagctccggccGaatgacattgagaactgcga	13	7	11	10	3	0	3	0	3	0	1	1	6	1	3	2	1	5	2	2	1	4	1			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr15:72040864G>A	uc002atb.1	+	12	2425	c.2346G>A	c.(2344-2346)ccG>ccA	p.P782P	THSD4_uc002ate.2_Silent_p.P422P	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	782	TSP type-1 3.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGCTCCGGCCGAATGACATTG	0.597													12	49					0	0	1	0	0	A	72040864	G	A	72040864	2	1	254	1	0	0	0	0	0	0	0	1	15875	1045	37	2		2	THSD4	15	72040864	Silent	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08		72040864	30490528	28	11127											
ARRDC4	91947	broad.mit.edu	37	chr15	98504133	98504133	+	Frame_Shift_Del	DEL	G	G	-																															gcggcggccgtgggtgccgaGggccgcgtgaagagcctggg																										TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr15:98504133delG	uc010bom.3	+	0	201	c.42delG	c.(40-42)gagfs	p.E14fs	ARRDC4_uc002bui.4_Intron	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	Homo sapiens arrestin domain containing 4 (ARRDC4), mRNA.	14					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			TGGGTGCCGAGGGCCGCGTGA	0.741													2	4	---	---	---	---						-	98504133	G	-	98504133	7	5	254	1	0	1	0	1	0	0	0	0	985	991	35	0	44	0	ARRDC4	15	98504133	Frame_Shift_Del	DEL	G	TCGA-HT-A618-01A-11D-A29Q-08	26463269	98504133	4027259	29	11128											
CDH8	1006	broad.mit.edu	37	chr16	61891032	61891032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggccacaaacctgtttcagGctcaatggaaaaataaggct	15	8	9	9	0	2	0	2	0	0	0	2	1	2	1	2	4	1	3	2	4	5	2			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr16:61891032G>A	uc002eog.2	-	3	1613	c.658C>T	c.(658-660)Cct>Tct	p.P220S	CDH8_uc002eoh.3_5'UTR	NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	220	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CCTGTTTCAGGCTCAATGGAA	0.393													28	45					0	0	1	0	0	A	61891032	G	A	61891032	3	1	254	1	0	0	0	0	1	0	0	0	3116	1203	42	3	1777	3	CDH8	16	61891032	Missense_Mutation	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08		61891032	28463721	30	11129											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	5	11	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	0	2	rs28934574		TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr17:7577094G>A	uc002gim.2	-	7	1038	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W|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.	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(805)|p.R282G(57)|p.D281E(28)|p.D281N(26)|p.R282Q(24)|p.D281H(19)|p.R282P(16)|p.R282R(12)|p.D281Y(11)|p.D281G(10)|p.0?(8)|p.R282fs*24(7)|p.D281D(5)|p.D281fs*63(4)|p.D281V(4)|p.D281_R282>EW(4)|p.R282L(3)|p.A276_R283delACPGRDRR(2)|p.R282_E287delRRTEEE(2)|p.C275_R283delCACPGRDRR(2)|p.D281_R282insXX(2)|p.?(2)|p.L265_K305del41(2)|p.R282H(2)|p.R280_D281delRD(2)|p.V272_K292del21(2)|p.R282fs*63(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.S269fs*21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281>AGPY(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)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)			44	14					0	0	1	0	0	A	7577094	G	A	7577094	3	1	254	1	0	0	0	0	1	0	0	0	16378	1115	39	2	442	2	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08		7577094	73618116	31	11130											
ITGB4	3691	broad.mit.edu	37	chr17	73736512	73736512	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcctgacactcgggagtgCgcccagctgcgccaggaggt	8	5	15	13	3	0	1	0	1	0	0	1	3	0	3	3	3	4	1	3	3	1	0			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr17:73736512C>T	uc002jpg.3	+	20	2707	c.2520C>T	c.(2518-2520)tgC>tgT	p.C840C	ITGB4_uc002jph.3_Silent_p.C840C|ITGB4_uc010dgo.3_Silent_p.C840C|ITGB4_uc002jpi.4_Silent_p.C840C|ITGB4_uc010dgp.1_Silent_p.C840C|ITGB4_uc002jpj.3_Silent_p.C840C	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	840					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTCGGGAGTGCGCCCAGCTGC	0.662													4	66					0	0	1	0	0	T	73736512	C	T	73736512	2	4	254	1	0	0	0	0	0	0	0	1	7897	776	27	1		1	ITGB4	17	73736512	Silent	SNP	C	TCGA-HT-A618-01A-11D-A29Q-08	66159418	73736512	7458698	32	11131											
TNRC6C	57690	broad.mit.edu	37	chr17	76047335	76047335	+	Frame_Shift_Del	DEL	G	G	-																															tgatgatggtacctcagcttGgggggacccaagcaactata																										TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr17:76047335delG	uc002jud.2	+	3	2792	c.2192delG	c.(2191-2193)tggfs	p.W731fs	TNRC6C_uc002juf.2_Frame_Shift_Del_p.W731fs|TNRC6C_uc002jue.2_Frame_Shift_Del_p.W731fs	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	731	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			ACCTCAGCTTGGGGGGACCCA	0.507													2	4	---	---	---	---						-	76047335	G	-	76047335	7	5	254	1	0	1	0	1	0	0	0	0	16339	1357	47	0	2194	0	TNRC6C	17	76047335	Frame_Shift_Del	DEL	G	TCGA-HT-A618-01A-11D-A29Q-08	2310823	76047335	5147875	33	11132											
RFX2	5990	broad.mit.edu	37	chr19	6013017	6013017	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcttctggtgcatgggCtgctgccgcatggccatgta	4	11	15	11	1	1	0	0	0	1	0	1	0	1	0	2	4	3	6	2	4	1	2			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr19:6013017C>T	uc002meb.3	-	7	1148	c.879G>A	c.(877-879)caG>caA	p.Q293Q	RFX2_uc002mec.3_Silent_p.Q268Q	NM_000635	NP_000626	P48378	RFX2_HUMAN	Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA.	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GGTGCATGGGCTGCTGCCGCA	0.612													34	160					0	0	1	0	0	T	6013017	C	T	6013017	2	4	254	1	0	0	0	0	0	0	0	1	13263	796	28	3		3	RFX2	19	6013017	Silent	SNP	C	TCGA-HT-A618-01A-11D-A29Q-08		6013017	53115966	34	11133											
CDH4	1002	broad.mit.edu	37	chr20	60503304	60503304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctatctcattgacatcaacGacaacgcccctgagctgctg	10	10	7	14	2	3	2	2	2	2	0	4	3	3	2	2	0	4	2	2	0	3	2			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr20:60503304G>A	uc002ybn.2	+	11	1916	c.1828G>A	c.(1828-1830)Gac>Aac	p.D610N	CDH4_uc002ybr.2_Missense_Mutation_p.D573N|CDH4_uc002ybp.2_Missense_Mutation_p.D536N	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	610	Cadherin 4.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TGACATCAACGACAACGCCCC	0.622													10	286					0	0	1	0	0	A	60503304	G	A	60503304	3	1	254	1	0	0	0	0	1	0	0	0	3112	1058	37	2	1874	2	CDH4	20	60503304	Missense_Mutation	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08		60503304	2522216	35	11134											
ATRX	546	broad.mit.edu	37	chrX	76939387	76939387	+	Frame_Shift_Del	DEL	T	T	-																															ctgactttgaaatatccttcTtttccaaagcacaaggtttt																										TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chrX:76939387delT	uc004ecp.4	-	8	1593	c.1361delA	c.(1360-1362)aagfs	p.K454fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K416fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K239fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K415fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K454fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K399fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	454					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AATATCCTTCTTTTCCAAAGC	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						97	98	---	---	---	---						-	76939387	T	-	76939387	7	5	254	1	0	1	0	1	0	0	0	0	1208	1609	56	0	6225	0	ATRX	23	76939387	Frame_Shift_Del	DEL	T	TCGA-HT-A618-01A-11D-A29Q-08		76939387	78331173	36	11135											
ST3GAL3	6487	broad.mit.edu	37	chr1	44363948	44363948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagtcaccaaagagtacCgcctgacccctgccttggac	9	8	9	15	1	2	2	2	1	0	1	2	3	2	3	6	1	2	1	6	1	2	2			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr1:44363948C>T	uc001ckb.3	+	7	823	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C	ST3GAL3_uc010okj.1_Non-coding_Transcript|ST3GAL3_uc001cjz.3_Missense_Mutation_p.R162C|ST3GAL3_uc001cka.3_Intron|ST3GAL3_uc001ckc.3_Missense_Mutation_p.R147C|ST3GAL3_uc001ckd.3_Missense_Mutation_p.R201C|ST3GAL3_uc001cke.3_Missense_Mutation_p.R131C|ST3GAL3_uc001ckf.3_Missense_Mutation_p.R185C|ST3GAL3_uc001ckg.3_Missense_Mutation_p.R147C|ST3GAL3_uc001ckh.3_Intron|ST3GAL3_uc001cki.3_Intron|ST3GAL3_uc009vwx.3_Non-coding_Transcript|ST3GAL3_uc009vwz.3_Intron|ST3GAL3_uc001ckm.3_Missense_Mutation_p.R146C|ST3GAL3_uc001ckn.3_Non-coding_Transcript|ST3GAL3_uc001cko.3_Missense_Mutation_p.R131C|ST3GAL3_uc001ckp.3_Missense_Mutation_p.R146C|ST3GAL3_uc009vxa.3_5'UTR|ST3GAL3_uc001ckq.3_Missense_Mutation_p.R131C|ST3GAL3_uc001ckr.3_Missense_Mutation_p.R100C|ST3GAL3_uc009vxb.3_Intron|ST3GAL3_uc009vwv.3_Missense_Mutation_p.R147C|ST3GAL3_uc001ckj.3_Non-coding_Transcript|ST3GAL3_uc009vww.3_Non-coding_Transcript|ST3GAL3_uc001ckk.3_Missense_Mutation_p.R116C|ST3GAL3_uc009vwy.3_Missense_Mutation_p.R53C|ST3GAL3_uc001ckl.3_Missense_Mutation_p.R147C	NM_174963	NP_777623	Q11203	SIAT6_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 3 (ST3GAL3), transcript variant 1, mRNA.	147					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CAAAGAGTACCGCCTGACCCC	0.537													48	12					0	0	1	0	0	T	44363948	C	T	44363948	3	4	255	1	0	0	0	0	1	0	0	0	15215	652	23	2	672	2	ST3GAL3	1	44363948	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08		44363948	204886673	1	11136											
CFHR1	3078	broad.mit.edu	37	chr1	196748322	196748322	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattttccagacattaaacAtggaggtctatttcatgaga	13	14	8	6	0	2	3	1	2	1	2	3	5	3	4	1	2	1	0	1	2	3	5			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr1:196748322A>C	uc001gtl.3	+	1	176	c.89A>C	c.(88-90)cAt>cCt	p.H30P	CFH_uc021pgt.1_Intron|CFHR1_uc001gtk.3_Missense_Mutation_p.H30P|CFHR1_uc010poy.2_Missense_Mutation_p.H30P|CFHR1_uc001gtm.3_5'UTR	NM_021023	NP_066303	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 3 (CFHR3), transcript variant 1, mRNA.	30	Sushi 1.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						GACATTAAACATGGAGGTCTA	0.289													18	35					0	0	1	0	0	C	196748322	A	C	196748322	3	2	255	1	0	0	0	0	1	0	0	0	3284	217	8	5		5	CFHR1	1	196748322	Missense_Mutation	SNP	A	TCGA-HT-A619-01A-11D-A29Q-08	152384374	196748322	52502299	2	11137											
SLC4A1AP	22950	broad.mit.edu	37	chr2	27898498	27898498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctgattgagaagaagcGtctgaacagaatgaagaagg	15	7	14	5	1	1	7	0	4	1	4	1	8	1	7	1	2	2	0	1	2	6	1			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:27898498G>A	uc002rlk.4	+	5	1727	c.1445G>A	c.(1444-1446)cGt>cAt	p.R482H		NM_018158	NP_060628	Q9BWU0	NADAP_HUMAN	Homo sapiens solute carrier family 4 (anion exchanger), member 1, adaptor protein (SLC4A1AP), mRNA.	482						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					GAGAAGAAGCGTCTGAACAGA	0.398													52	63					0	0	1	0	0	A	27898498	G	A	27898498	3	1	255	1	0	0	0	0	1	0	0	0	14653	1145	40	1	1467	1	SLC4A1AP	2	27898498	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08		27898498	215300875	3	11138											
HEATR5B	54497	broad.mit.edu	37	chr2	37268400	37268400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaccaagagccaatgaatgaCcagtcctagatacaacatct	17	7	6	11	0	1	4	0	2	1	2	2	4	2	4	4	0	4	0	4	0	7	2			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:37268400C>T	uc002rpp.1	-	18	2828	c.2732G>A	c.(2731-2733)gGt>gAt	p.G911D		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	911							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CAATGAATGACCAGTCCTAGA	0.388													24	71					0	0	1	0	0	T	37268400	C	T	37268400	3	4	255	1	0	0	0	0	1	0	0	0	7032	507	18	3	3555	3	HEATR5B	2	37268400	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	9369902	37268400	205930973	4	11139											
REG1B	5968	broad.mit.edu	37	chr2	79312681	79312681	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcggggatccagtgtcccAggacttgtaggagaccaggg	8	7	16	10	1	0	1	0	0	0	1	3	4	2	3	3	5	0	2	3	5	1	2			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:79312681A>G	uc002sny.2	-	4	482	c.370T>C	c.(370-372)Tgg>Cgg	p.W124R	REG1B_uc010ffv.1_3'UTR	NM_006507	NP_006498	P48304	REG1B_HUMAN	Homo sapiens regenerating islet-derived 1 beta (REG1B), mRNA.	124	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						CCAGTGTCCCAGGACTTGTAG	0.542													28	55					0	0	1	0	0	G	79312681	A	G	79312681	3	3	255	1	0	0	0	0	1	0	0	0	13211	188	7	4	138	4	REG1B	2	79312681	Missense_Mutation	SNP	A	TCGA-HT-A619-01A-11D-A29Q-08	42044281	79312681	163886692	5	11140											
CNNM4	26504	broad.mit.edu	37	chr2	97427110	97427110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctggtcaacgtgagccGcgggaacacgtccggcgtgc	7	5	16	13	6	1	1	1	1	0	0	2	2	2	2	2	3	5	2	2	3	2	0			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:97427110G>A	uc002swx.3	+	0	472	c.374G>A	c.(373-375)cGc>cAc	p.R125H		NM_020184	NP_064569	Q6P4Q7	CNNM4_HUMAN	Homo sapiens cyclin M4 (CNNM4), mRNA.	125					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						AACGTGAGCCGCGGGAACACG	0.652													4	149					0	0	1	0	0	A	97427110	G	A	97427110	3	1	255	1	0	0	0	0	1	0	0	0	3615	1087	38	1	376	1	CNNM4	2	97427110	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	18114429	97427110	145772263	6	11141											
RGPD4	285190	broad.mit.edu	37	chr2	108487540	108487540	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctttgagaaagatgatgatgCctataagactgaggacagcg	14	9	12	6	1	0	6	0	4	0	3	0	8	0	7	1	1	2	0	1	1	3	3			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:108487540C>G	uc010ywk.2	+	19	3162	c.3080C>G	c.(3079-3081)gCc>gGc	p.A1027G	RGPD4_uc002tdu.3_Missense_Mutation_p.A214G|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1027					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GATGATGATGCCTATAAGACT	0.388													166	199					0	0	1	0	0	G	108487540	C	G	108487540	3	3	255	1	0	0	0	0	1	0	0	0	13288	739	26	5	3158	5	RGPD4	2	108487540	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	11060430	108487540	134711833	7	11142											
LRP2	4036	broad.mit.edu	37	chr2	170101367	170101367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccatccacacagtcgttgCgtttgtcacagcgccagtgt	7	11	10	13	3	1	0	1	0	0	0	3	0	2	0	3	0	3	2	3	0	0	2	rs143115109		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:170101367C>T	uc002ues.3	-	21	3479	c.3266G>A	c.(3265-3267)cGc>cAc	p.R1089H	LRP2_uc010zdf.1_Missense_Mutation_p.R952H	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1089	LDL-receptor class A 9.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity	p.R1089C(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACAGTCGTTGCGTTTGTCACA	0.517													77	114					0	0	1	0	0	T	170101367	C	T	170101367	3	4	255	1	0	0	0	0	1	0	0	0	8956	768	27	1	10933	1	LRP2	2	170101367	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	61613827	170101367	73098006	8	11143											
TTN	7273	broad.mit.edu	37	chr2	179456396	179456396	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccacaatgttttcagctttTacacggaatctataggtctt	10	15	6	10	1	3	0	1	0	2	0	3	1	3	1	1	2	2	2	1	2	5	7			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:179456396T>C	uc021vsy.1	-	251	52671	c.52446A>G	c.(52444-52446)gtA>gtG	p.V17482V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.V11177V|TTN_uc021vta.1_Silent_p.V11110V|TTN_uc021vtb.1_Silent_p.V10985V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18409	Ig-like 103.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCAGCTTTTACACGGAATC	0.393													4	295					0	0	1	0	0	C	179456396	T	C	179456396	2	2	255	1	0	0	0	0	0	0	0	1	16732	1741	61	3		3	TTN	2	179456396	Silent	SNP	T	TCGA-HT-A619-01A-11D-A29Q-08	9355029	179456396	63742977	9	11144											
NCKAP1	10787	broad.mit.edu	37	chr2	183843586	183843586	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttacacttagggaagtcaTagtgttaacaaaagaggaca	16	11	9	5	0	1	1	1	0	0	1	1	3	1	3	0	2	2	1	0	2	7	5			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:183843586T>C	uc002upc.3	-	13	1801	c.1399A>G	c.(1399-1401)Atg>Gtg	p.M467V	NCKAP1_uc002upb.3_Missense_Mutation_p.M473V	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	Homo sapiens NCK-associated protein 1 (NCKAP1), transcript variant 1, mRNA.	467					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AGGGAAGTCATAGTGTTAACA	0.279													13	21					0	0	1	0	0	C	183843586	T	C	183843586	3	2	255	1	0	0	0	0	1	0	0	0	10221	1406	49	3	2059	3	NCKAP1	2	183843586	Missense_Mutation	SNP	T	TCGA-HT-A619-01A-11D-A29Q-08	4387190	183843586	59355787	10	11145											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								31	41					0	0	1	0	0	T	209113112	C	T	209113112	3	4	255	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	25269526	209113112	34086261	11	11146											
NCL	4691	broad.mit.edu	37	chr2	232320164	232320164	+	Frame_Shift_Del	DEL	A	A	-																															cctcctcggcctcctctaccAccacctcgtcctccaaagcc																										TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:232320164delA	uc002vru.3	-	12	2145	c.2004delT	c.(2002-2004)ggtfs	p.G668fs		NM_005381	NP_005372	P19338	NUCL_HUMAN	Homo sapiens nucleolin (NCL), mRNA.	668	Arg/Gly/Phe-rich.				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	RNA binding|nucleotide binding|protein C-terminus binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		CTCCTCTACCACCACCTCGTC	0.567													8	539	---	---	---	---						-	232320164	A	-	232320164	7	5	255	1	0	1	0	1	0	0	0	0	10226	146	6	0	136	0	NCL	2	232320164	Frame_Shift_Del	DEL	A	TCGA-HT-A619-01A-11D-A29Q-08	23207052	232320164	10879209	12	11147											
EPHA3	2042	broad.mit.edu	37	chr3	89259601	89259601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtactgcagtacagaaggcGaatggcttgtacccattggc	10	10	12	9	1	0	1	0	0	0	1	0	2	0	1	1	3	4	5	1	3	5	5			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr3:89259601G>A	uc003dqy.3	+	2	970	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	EPHA3_uc003dqx.1_Missense_Mutation_p.E249K|EPHA3_uc021xbf.1_Missense_Mutation_p.E249K	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	249	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding	p.E249K(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TACAGAAGGCGAATGGCTTGT	0.473										TSP Lung(6;0.00050)			133	182					0	0	1	0	0	A	89259601	G	A	89259601	3	1	255	1	0	0	0	0	1	0	0	0	5168	1059	37	2	755	2	EPHA3	3	89259601	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08		89259601	108762829	13	11148											
PVRL3	25945	broad.mit.edu	37	chr3	110831116	110831116	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacttaatgatgcaacaattActctgcataacataggattc	15	12	5	9	0	1	1	0	1	1	0	2	2	1	2	0	1	5	2	0	1	6	5			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr3:110831116A>G	uc003dxt.2	+	1	659	c.400A>G	c.(400-402)Act>Gct	p.T134A	PVRL3_uc003dxu.2_Missense_Mutation_p.T111A|PVRL3_uc021xch.1_Missense_Mutation_p.T134A	NM_015480	NP_056295	Q9NQS3	PVRL3_HUMAN	Homo sapiens poliovirus receptor-related 3 (PVRL3), transcript variant 1, mRNA.	134	Ig-like V-type.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						TGCAACAATTACTCTGCATAA	0.393													43	41					0	0	1	0	0	G	110831116	A	G	110831116	3	3	255	1	0	0	0	0	1	0	0	0	12841	391	14	3	406	3	PVRL3	3	110831116	Missense_Mutation	SNP	A	TCGA-HT-A619-01A-11D-A29Q-08	21571515	110831116	87191314	14	11149											
PHLDB2	90102	broad.mit.edu	37	chr3	111685531	111685531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggctcatgcagaaaagaCgcggctgctcgaatccaggg	11	5	14	11	3	1	2	1	0	0	2	3	3	2	2	1	3	2	5	1	3	3	0			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr3:111685531C>T	uc010hqa.3	+	13	3560	c.3149C>T	c.(3148-3150)aCg>aTg	p.T1050M	PHLDB2_uc003dyc.3_Missense_Mutation_p.T1034M|PHLDB2_uc003dyd.3_Missense_Mutation_p.T1007M|PHLDB2_uc003dyg.3_Missense_Mutation_p.T1050M|PHLDB2_uc003dyh.3_Missense_Mutation_p.T1007M|PHLDB2_uc003dyi.3_Missense_Mutation_p.T541M|PHLDB2_uc003dyj.3_Missense_Mutation_p.T105M	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	1050						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GCAGAAAAGACGCGGCTGCTC	0.478													58	41					0	0	1	0	0	T	111685531	C	T	111685531	3	4	255	1	0	0	0	0	1	0	0	0	11852	536	19	1	3284	1	PHLDB2	3	111685531	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	854415	111685531	86336899	15	11150											
ZNF148	7707	broad.mit.edu	37	chr3	124953096	124953096	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaaggtttttctccactatGagttctcttatgcctttcca	7	18	6	10	0	2	1	0	1	2	0	5	1	3	1	3	1	1	3	3	1	3	7			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr3:124953096G>C	uc003ehx.4	-	7	1231	c.745C>G	c.(745-747)Cat>Gat	p.H249D	SLC12A8_uc003ehw.4_Intron|ZNF148_uc003ehz.4_Missense_Mutation_p.H249D|ZNF148_uc010hsa.3_Missense_Mutation_p.H249D|ZNF148_uc003eia.4_Missense_Mutation_p.H249D|ZNF148_uc003ehy.3_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	Homo sapiens zinc finger protein 148 (ZNF148), mRNA.	249					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	p.T248A(1)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TCTCCACTATGAGTTCTCTTA	0.303													31	42					0	0	1	0	0	C	124953096	G	C	124953096	3	2	255	1	0	0	0	0	1	0	0	0	17731	1290	45	5	1647	5	ZNF148	3	124953096	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	13267565	124953096	73069334	16	11151											
CCDC109B	55013	broad.mit.edu	37	chr4	110581405	110581405	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtaacacttaccttgccatCtagaaaagaacgttgtcaat	14	11	7	9	1	2	2	1	0	1	2	2	2	2	2	2	1	4	2	2	1	7	5			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr4:110581405C>G	uc011cfs.2	+	2	369	c.230C>G	c.(229-231)tCt>tGt	p.S77C	CCDC109B_uc010imf.2_Missense_Mutation_p.S77C	NM_017918	NP_060388	Q9NWR8	C109B_HUMAN	Homo sapiens coiled-coil domain containing 109B (CCDC109B), mRNA.	77						integral to membrane				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		ACCTTGCCATCTAGAAAAGAA	0.328													12	8					0	0	1	0	0	G	110581405	C	G	110581405	3	3	255	1	0	0	0	0	1	0	0	0	2745	913	32	5	240	5	CCDC109B	4	110581405	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08		110581405	80572871	17	11152											
EGF	1950	broad.mit.edu	37	chr4	110884445	110884445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactggatgaaaaaagctgtGcagcttcaggttagtgctgt	12	11	12	6	0	1	1	1	1	0	0	1	2	1	2	0	2	5	5	0	2	5	2			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr4:110884445G>A	uc003hzy.4	+	8	1881	c.1429G>A	c.(1429-1431)Gca>Aca	p.A477T	EGF_uc011cfu.2_Missense_Mutation_p.A435T|EGF_uc011cfv.2_Missense_Mutation_p.A477T	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	477	EGF-like 4.				DNA replication|angiogenesis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	AAAAAGCTGTGCAGCTTCAGG	0.423													62	94					0	0	1	0	0	A	110884445	G	A	110884445	3	1	255	1	0	0	0	0	1	0	0	0	4962	1319	46	3	1463	3	EGF	4	110884445	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	303040	110884445	80269831	18	11153											
DCHS2	54798	broad.mit.edu	37	chr4	155287390	155287390	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcaatggtaaaaagggaCgacacgtttcctggaataag	15	8	12	6	2	1	0	1	0	0	0	2	4	2	2	1	3	0	2	1	3	6	3	rs78251264	byFrequency	TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr4:155287390C>T	uc003inw.2	-	4	666	c.666G>A	c.(664-666)tcG>tcA	p.S222S	DCHS2_uc003inx.2_Silent_p.S816S	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	222	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TAAAAAGGGACGACACGTTTC	0.448													20	38					0	0	1	0	0	T	155287390	C	T	155287390	2	4	255	1	0	0	0	0	0	0	0	1	4288	523	19	1		1	DCHS2	4	155287390	Silent	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	44402945	155287390	35866886	19	11154											
CEP72	55722	broad.mit.edu	37	chr5	620335	620335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggttgagcctgactaccGcctttttgttgtgcacctgc	6	13	11	11	1	0	2	0	2	0	0	0	3	0	2	4	1	4	3	4	1	2	5			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:620335G>A	uc003jbf.3	+	2	434	c.362G>A	c.(361-363)cGc>cAc	p.R121H	CEP72_uc011clz.1_Non-coding_Transcript	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	Homo sapiens centrosomal protein 72kDa (CEP72), mRNA.	121	LRRCT.				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CCTGACTACCGCCTTTTTGTT	0.602													48	77					0	0	1	0	0	A	620335	G	A	620335	3	1	255	1	0	0	0	0	1	0	0	0	3260	1087	38	1	372	1	CEP72	5	620335	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08		620335	180294925	20	11155											
SLC6A19	340024	broad.mit.edu	37	chr5	1219196	1219196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacctcagagtcatcccccCgaagtggcccaaggaggtgc	9	5	13	14	1	2	1	2	0	0	1	3	4	3	3	5	4	1	0	5	4	2	0			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:1219196C>T	uc003jbw.4	+	8	1408	c.1352C>T	c.(1351-1353)cCg>cTg	p.P451L		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	451					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GTCATCCCCCCGAAGTGGCCC	0.607													3	38					0	0	1	0	0	T	1219196	C	T	1219196	3	4	255	1	0	0	0	0	1	0	0	0	14682	652	23	2	1386	2	SLC6A19	5	1219196	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	598861	1219196	179696064	21	11156											
MYO10	4651	broad.mit.edu	37	chr5	16689996	16689996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggccataatgatgtcgatcCcattctccttggtggtgtta	7	14	10	10	2	1	1	0	1	1	0	4	2	2	1	3	3	0	1	3	3	2	4			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:16689996C>T	uc003jft.4	-	27	4301	c.3833G>A	c.(3832-3834)gGg>gAg	p.G1278E	MYO10_uc011cnc.2_Missense_Mutation_p.G157E|MYO10_uc011cnd.2_Missense_Mutation_p.G635E|MYO10_uc011cne.2_Missense_Mutation_p.G635E|MYO10_uc010itx.3_Missense_Mutation_p.G901E	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1278	PH 1.				axon guidance|signal transduction	myosin complex	ATP binding|actin binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GATGTCGATCCCATTCTCCTT	0.463													11	49					0	0	1	0	0	T	16689996	C	T	16689996	3	4	255	1	0	0	0	0	1	0	0	0	10062	623	22	3	2399	3	MYO10	5	16689996	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	15470800	16689996	164225264	22	11157											
NIPBL	25836	broad.mit.edu	37	chr5	36985704	36985704	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagcagagacctgatgggCgatctgtttctgagtcacta	11	11	11	8	1	3	3	1	2	2	1	3	5	3	3	1	1	1	2	1	1	3	3			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:36985704C>T	uc003jkl.4	+	9	2921	c.2422C>T	c.(2422-2424)Cga>Tga	p.R808*	NIPBL_uc003jkk.4_Nonsense_Mutation_p.R808*|NIPBL_uc003jkm.1_Nonsense_Mutation_p.R687*	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	808					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACCTGATGGGCGATCTGTTTC	0.428													32	45					0	0	1	0	0	T	36985704	C	T	36985704	4	4	255	1	0	0	0	0	0	1	0	0	10428	760	27	1	2456	1	NIPBL	5	36985704	Nonsense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	20295708	36985704	143929556	23	11158											
MAP1B	4131	broad.mit.edu	37	chr5	71495073	71495073	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgacataagtgaaaagaccaCcagcccccccgaagtgagtg	14	5	10	12	1	0	4	0	3	0	1	0	5	0	4	5	0	1	0	5	0	4	1			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:71495073C>G	uc003kbw.4	+	4	6132	c.5891C>G	c.(5890-5892)aCc>aGc	p.T1964S	MAP1B_uc010iyw.1_Missense_Mutation_p.T1981S|MAP1B_uc010iyx.1_Missense_Mutation_p.T1838S|MAP1B_uc010iyy.1_Missense_Mutation_p.T1838S	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	1964						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GAAAAGACCACCAGCCCCCCC	0.473													6	83					0	0	1	0	0	G	71495073	C	G	71495073	3	3	255	1	0	0	0	0	1	0	0	0	9228	507	18	5	5909	5	MAP1B	5	71495073	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	34509369	71495073	109420187	24	11159											
PCDHAC2	56134	broad.mit.edu	37	chr5	140176038	140176038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctactcgctggtggagCggcgggtgggcgagcgcgcg	3	7	20	11	7	0	0	0	0	0	0	2	2	1	1	1	5	3	1	1	5	1	1			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:140176038C>T	uc003lhd.2	+	0	1595	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.R497W|PCDHAC2_uc011czy.2_Missense_Mutation_p.R497W	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	511	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.P496T(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGTGGAGCGGCGGGTGGG	0.672													6	148					0	0	1	0	0	T	140176038	C	T	140176038	3	4	255	1	0	0	0	0	1	0	0	0	11533	759	27	1		1	PCDHAC2	5	140176038	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	68680965	140176038	40739222	25	11160											
PCDHAC2	56134	broad.mit.edu	37	chr5	140182696	140182696	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacgacccgtgccctggaCgaggtggacgccccgcgcca	7	3	14	17	6	0	0	0	0	0	0	0	4	0	2	5	3	2	1	5	3	0	0			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:140182696C>T	uc003lhf.2	+	0	1914	c.1914C>T	c.(1912-1914)gaC>gaT	p.D638D	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.D638D	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	649	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCCCTGGACGAGGTGGACG	0.667													11	143					0	0	1	0	0	T	140182696	C	T	140182696	2	4	255	1	0	0	0	0	0	0	0	1	11533	535	19	1		1	PCDHAC2	5	140182696	Silent	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	6658	140182696	40732564	26	11161											
SPRY4	81848	broad.mit.edu	37	chr5	141693969	141693969	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagagagcacccatgaaggaCcagcgggcgcagcagttgga	12	3	16	10	2	0	2	0	1	0	1	0	6	0	4	2	3	3	4	2	3	1	1			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:141693969C>T	uc010jgi.1	-	2	1015	c.774G>A	c.(772-774)tgG>tgA	p.W258*	SPRY4_uc003lml.2_Nonsense_Mutation_p.W235*|SPRY4_uc021yet.1_Nonsense_Mutation_p.W235*	NM_030964	NP_001120968	Q9C004	SPY4_HUMAN	Homo sapiens sprouty homolog 4 (Drosophila) (SPRY4), transcript variant 1, mRNA.	235	Cys-rich.|SPR.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATGAAGGACCAGCGGGCGC	0.662									Testicular Cancer, Familial Clustering of				29	28					0	0	1	0	0	T	141693969	C	T	141693969	4	4	255	1	0	0	0	0	0	1	0	0	15107	508	18	3	198	3	SPRY4	5	141693969	Nonsense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	1511273	141693969	39221291	27	11162											
ABCB5	340273	broad.mit.edu	37	chr7	20767947	20767947	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtacattccagaaatacctcGaagaaagcacagattattgg	16	9	8	8	1	0	3	0	0	0	3	2	4	1	3	2	1	3	2	2	1	6	5			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:20767947G>A	uc010kuh.3	+	22	2973	c.2736G>A	c.(2734-2736)tcG>tcA	p.S912S	ABCB5_uc003suw.4_Silent_p.S467S|ABCB5_uc003sux.1_Silent_p.S90S	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	467					regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GAAATACCTCGAAGAAAGCAC	0.353													52	145					0	0	1	0	0	A	20767947	G	A	20767947	2	1	255	1	0	0	0	0	0	0	0	1	44	1045	37	2		2	ABCB5	7	20767947	Silent	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08		20767947	138370716	28	11163											
DNAH11	8701	broad.mit.edu	37	chr7	21721268	21721268	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagatgtccatgccagagaCgtggtggcaaaacttatttc	12	11	10	8	1	0	2	0	0	0	2	2	3	1	2	2	2	2	1	2	2	4	3			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:21721268C>T	uc003svc.3	+	30	5479	c.5448C>T	c.(5446-5448)gaC>gaT	p.D1816D		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1816	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATGCCAGAGACGTGGTGGCAA	0.398									Kartagener syndrome				4	121					0	0	1	0	0	T	21721268	C	T	21721268	2	4	255	1	0	0	0	0	0	0	0	1	4599	535	19	1		1	DNAH11	7	21721268	Silent	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	953321	21721268	137417395	29	11164											
FBXL13	222235	broad.mit.edu	37	chr7	102453840	102453840	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gactttttcactgttaattcTaaggctcctttagatgatgt	9	18	7	7	0	2	2	1	1	1	1	3	3	3	2	1	1	0	2	1	1	3	7	rs141623741		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:102453840T>G	uc003vaq.2	-	19	2584	c.2157A>C	c.(2155-2157)ttA>ttC	p.L719F	FBXL13_uc010liq.1_Missense_Mutation_p.L252F|FBXL13_uc010lir.1_Missense_Mutation_p.L674F|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Missense_Mutation_p.L691F	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA.	719										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CTGTTAATTCTAAGGCTCCTT	0.418													44	98					0	0	1	0	0	G	102453840	T	G	102453840	3	3	255	1	0	0	0	0	1	0	0	0	5709	1519	53	5	54	5	FBXL13	7	102453840	Missense_Mutation	SNP	T	TCGA-HT-A619-01A-11D-A29Q-08	80732572	102453840	56684823	30	11165											
WNT16	51384	broad.mit.edu	37	chr7	120969426	120969426	+	Frame_Shift_Del	DEL	C	C	-																															cgtgctgttcccctacggagCccaaggaaactggatgtgag																										TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:120969426delC	uc003vjw.3	+	0	337	c.80delC	c.(79-81)gccfs	p.A27fs	WNT16_uc003vjv.3_Intron|WNT16_uc010lkl.3_5'Flank	NM_057168	NP_476509	Q9UBV4	WNT16_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 16 (WNT16), transcript variant 1, mRNA.	27					Wnt receptor signaling pathway, calcium modulating pathway|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of JNK cascade|positive regulation of gene expression|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					CCCTACGGAGCCCAAGGAAAC	0.647													33	25	---	---	---	---						-	120969426	C	-	120969426	7	5	255	1	0	1	0	1	0	0	0	0	17382	739	26	0	151	0	WNT16	7	120969426	Frame_Shift_Del	DEL	C	TCGA-HT-A619-01A-11D-A29Q-08	18515586	120969426	38169237	31	11166											
ASB15	142685	broad.mit.edu	37	chr7	123269087	123269088	+	Frame_Shift_Del	DEL	GA	GA	-																															accacatttcccagagctatGacgatgagaggaagactgcg																										TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:123269087_123269088delGA	uc003vku.1	+	9	1331_1332	c.1039_1040delGA	c.(1039-1041)gacfs	p.D347fs	ASB15_uc003vkw.1_Frame_Shift_Del_p.D347fs	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	347					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CCAGAGCTATGACGATGAGAGG	0.455													55	162	---	---	---	---						-	123269088	GA	-	123269087	7	5	255	1	0	1	0	1	0	0	0	0	1019	1290	45	0	1065	0	ASB15	7	123269087	Frame_Shift_Del	DEL	GA	TCGA-HT-A619-01A-11D-A29Q-08	2299661	123269087	35869576	32	11167											
EPHB6	2051	broad.mit.edu	37	chr7	142561054	142561054	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgtagcctatgggtgctGctcctggtgtcttcagttct	3	16	13	9	0	3	0	1	0	2	0	4	0	4	0	2	2	3	4	2	2	2	4			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:142561054G>T	uc011kst.2	+	4	856	c.69G>T	c.(67-69)ctG>ctT	p.L23L	EPHB6_uc011ksu.2_Silent_p.L23L|EPHB6_uc003wbs.3_5'UTR|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_5'UTR	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	23						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TATGGGTGCTGCTCCTGGTGT	0.587													9	95					0.000274275	0.00028058	1	1	0	T	142561054	G	T	142561054	2	4	255	1	0	0	0	0	0	0	0	1	5178	1306	46	5		5	EPHB6	7	142561054	Silent	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	19291967	142561054	16577609	33	11168											
SSPO	23145	broad.mit.edu	37	chr7	149516518	149516518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccgcctgcgggcataccGtccccctgggcccggcgggc	2	4	16	19	6	0	0	0	0	0	0	1	0	1	0	6	4	2	1	6	4	1	1			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:149516518G>A	uc010lpk.3	+	83	11912	c.11912G>A	c.(11911-11913)cGt>cAt	p.R3971H	SSPO_uc010lpm.1_5'Flank|SSPO_uc003wgg.2_5'Flank|SSPO_uc003wgh.2_5'Flank|SSPO_uc003wgi.1_5'Flank	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3974	TSP type-1 17.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGGGCATACCGTCCCCCTGGG	0.711													8	47					0	0	1	0	0	A	149516518	G	A	149516518	3	1	255	1	0	0	0	0	1	0	0	0	15188	1145	40	1	12249	1	SSPO	7	149516518	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	6955464	149516518	9622145	34	11169											
ADAM28	10863	broad.mit.edu	37	chr8	24187513	24187513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttaggaccacagcgataatCttcttagagttgcagggaca	12	11	10	8	1	2	1	0	0	2	1	2	4	2	3	1	2	2	2	1	2	3	6			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr8:24187513C>T	uc003xdy.3	+	10	1071	c.988C>T	c.(988-990)Ctt>Ttt	p.L330F	ADAM28_uc003xdx.3_Missense_Mutation_p.L330F|ADAM28_uc011kzz.2_Missense_Mutation_p.L97F|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.L17F	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	330	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CAGCGATAATCTTCTTAGAGT	0.388													7	128					0	0	1	0	0	T	24187513	C	T	24187513	3	4	255	1	0	0	0	0	1	0	0	0	246	913	32	3	1030	3	ADAM28	8	24187513	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08		24187513	122176509	35	11170											
DOCK5	80005	broad.mit.edu	37	chr8	26227744	26227761	+	In_Frame_Del	DEL	AAGCCTCGCACAGTTCTG	AAGCCTCGCACAGTTCTG	-																															aagcatcgcgggaaaacaatAagcctcgcacagttctgaag																										TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr8:26227744_26227761delAAGCCTCGCACAGTTCTG	uc003xeu.3	+	9	1488_1505	c.1159_1176delAAGCCTCGCACAGTTCTG	c.(1159-1176)aagcctcgcacagttctgdel	p.KPRTVL387del	DOCK5_uc003xek.3_In_Frame_Del_p.KPRTVL388del|DOCK5_uc011laf.2_In_Frame_Del_p.KPRTVL397del|DOCK5_uc022atb.1_Non-coding_Transcript	NM_002717	NP_002708	Q9H7D0	DOCK5_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, alpha (PPP2R2A), transcript variant 1, mRNA.	446						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.R389H(1)|p.A389T(1)|p.R389R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGAAAACAATAAGCCTCGCACAGTTCTGAAGCCTCGCA	0.431													18	37	---	---	---	---						-	26227761	AAGCCTCGCACAGTTCTG	-	26227744	7	5	255	1	0	1	0	1	0	0	0	0	4690	363	13	0		0	DOCK5	8	26227744	In_Frame_Del	DEL	AAGCCTCGCACAGTTCTG	TCGA-HT-A619-01A-11D-A29Q-08	2040231	26227744	120136278	36	11171											
PXDNL	137902	broad.mit.edu	37	chr8	52233389	52233389	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttcatccagcgctcctcGgccttccttggaacccctct	4	13	6	18	2	3	0	1	0	2	0	7	1	6	1	6	2	2	1	6	2	1	3			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr8:52233389G>A	uc003xqu.4	-	21	4316	c.4215C>T	c.(4213-4215)gcC>gcT	p.A1405A	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	1405	VWFC.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGCGCTCCTCGGCCTTCCTTG	0.527													115	115					0	0	1	0	0	A	52233389	G	A	52233389	2	1	255	1	0	0	0	0	0	0	0	1	12848	1103	39	2		2	PXDNL	8	52233389	Silent	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	26005645	52233389	94130633	37	11172											
ARHGAP39	80728	broad.mit.edu	37	chr8	145773361	145773361	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcttggtgagcaccagcTgctggcagggcgaggggggg	5	7	20	9	1	1	1	0	1	1	0	1	2	1	1	1	6	4	5	1	6	0	1			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr8:145773361T>C	uc003zds.1	-	5	1664	c.1109A>G	c.(1108-1110)cAg>cGg	p.Q370R	ARHGAP39_uc011llk.1_Missense_Mutation_p.Q370R|ARHGAP39_uc003zdt.1_Missense_Mutation_p.Q370R	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	370					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GAGCACCAGCTGCTGGCAGGG	0.706													13	15					0	0	1	0	0	C	145773361	T	C	145773361	3	2	255	1	0	0	0	0	1	0	0	0	884	1580	55	4	2267	4	ARHGAP39	8	145773361	Missense_Mutation	SNP	T	TCGA-HT-A619-01A-11D-A29Q-08	93539972	145773361	590661	38	11173											
OLFML2A	169611	broad.mit.edu	37	chr9	127572206	127572206	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatcatcaagtacgacctaCggcagcgcttcgtggcctcc	9	8	9	15	4	2	0	2	0	0	0	4	1	3	0	3	2	3	3	3	2	3	3			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr9:127572206C>T	uc004bov.3	+	7	1587	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W	OLFML2A_uc004bow.3_Missense_Mutation_p.R278W	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA.	492	Olfactomedin-like.							p.R492Q(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GTACGACCTACGGCAGCGCTT	0.592													60	90					0	0	1	0	0	T	127572206	C	T	127572206	3	4	255	1	0	0	0	0	1	0	0	0	10857	527	19	1	1504	1	OLFML2A	9	127572206	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08		127572206	13641225	39	11174											
GTF3C4	9329	broad.mit.edu	37	chr9	135546108	135546108	+	Silent	SNP	G	G	T																															ccagcagcggacgcggccccGgggcccagcgctgcattccg																										TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr9:135546108G>T	uc010mzv.3	+	0	381	c.123G>T	c.(121-123)ccG>ccT	p.P41P	DDX31_uc004cbq.1_5'Flank|DDX31_uc010mzu.1_5'Flank|DDX31_uc004cbr.1_5'Flank|DDX31_uc004cbs.2_5'Flank|GTF3C4_uc010mzw.3_Non-coding_Transcript	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 4, 90kDa (GTF3C4), mRNA.	41					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		ACGCGGCCCCGGGGCCCAGCG	0.761													3	0					0.150653	0.150653	1	1	0	T	135546108	G	T	135546108	2	4	255	1	0	0	0	0	0	0	0	1	6875	1103	39	5		5	GTF3C4	9	135546108	Silent	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	7973902	135546108	5667323	40	11175	38	2									
GTF3C4	9329	broad.mit.edu	37	chr9	135546109	135546109	+	Missense_Mutation	SNP	G	G	A																															cagcagcggacgcggccccgGggcccagcgctgcattccgc																										TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr9:135546109G>A	uc010mzv.3	+	0	382	c.124G>A	c.(124-126)Ggg>Agg	p.G42R	DDX31_uc004cbq.1_5'Flank|DDX31_uc010mzu.1_5'Flank|DDX31_uc004cbr.1_5'Flank|DDX31_uc004cbs.2_5'Flank|GTF3C4_uc010mzw.3_Non-coding_Transcript	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 4, 90kDa (GTF3C4), mRNA.	42					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		CGCGGCCCCGGGGCCCAGCGC	0.756													3	0					0	0	1	0	0	A	135546109	G	A	135546109	3	1	255	1	0	0	0	0	1	0	0	0	6875	1232	43	3	126	3	GTF3C4	9	135546109	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	1	135546109	5667322	41	11176	38	2									
DBH	1621	broad.mit.edu	37	chr9	136507441	136507441	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagggtgcagctcctgaagcCcaatatccccgaaccggagt	10	6	12	13	2	0	1	0	1	0	0	2	4	2	2	5	2	4	2	5	2	4	1			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr9:136507441C>G	uc004cel.3	+	2	608	c.599C>G	c.(598-600)cCc>cGc	p.P200R		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	200					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	L-ascorbic acid binding|dopamine beta-monooxygenase activity			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CTCCTGAAGCCCAATATCCCC	0.622													26	47					0	0	1	0	0	G	136507441	C	G	136507441	3	3	255	1	0	0	0	0	1	0	0	0	4250	623	22	5	609	5	DBH	9	136507441	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	961332	136507441	4705990	42	11177											
CELF2	10659	broad.mit.edu	37	chr10	11363187	11363187	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtatggcggctctgaatGgaggacttggcgccacaggc	8	7	16	10	2	1	1	0	1	1	0	1	3	1	3	1	7	0	2	1	7	2	2			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr10:11363187G>C	uc001ikk.2	+	11	1328	c.1168G>C	c.(1168-1170)Gga>Cga	p.G390R	CELF2_uc010qbj.1_Missense_Mutation_p.G371R|CELF2_uc001iki.4_Missense_Mutation_p.G365R|CELF2_uc001ikl.4_Missense_Mutation_p.G378R|CELF2_uc010qbl.1_Missense_Mutation_p.G341R|CELF2_uc010qbm.1_Missense_Mutation_p.G137R|CELF2_uc001iko.4_Missense_Mutation_p.G345R|CELF2_uc001ikp.4_Missense_Mutation_p.G347R|CELF2_uc010qbo.1_Missense_Mutation_p.G260R|CELF2_uc010qbp.1_Missense_Mutation_p.G137R	NM_001083591	NP_001077060	O95319	CELF2_HUMAN	Homo sapiens CUGBP, Elav-like family member 2 (CELF2), transcript variant 4, mRNA.	365	Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	RNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						GGCTCTGAATGGAGGACTTGG	0.517													35	68					0	0	1	0	0	C	11363187	G	C	11363187	3	2	255	1	0	0	0	0	1	0	0	0	3216	1349	47	5	1243	5	CELF2	10	11363187	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08		11363187	124171560	43	11178											
MUC2	4583	broad.mit.edu	37	chr11	1083749	1083749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccgtcccacaggctgcacgGccccaaagatccacatggac	10	5	9	17	2	0	1	0	0	0	1	3	2	3	2	5	3	1	2	5	3	1	0			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr11:1083749G>A	uc001lsx.1	+	17	2308	c.2281G>A	c.(2281-2283)Gcc>Acc	p.A761T		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	761						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGGCTGCACGGCCCCAAAGAT	0.701													12	26					0	0	1	0	0	A	1083749	G	A	1083749	3	1	255	1	0	0	0	0	1	0	0	0	9975	1203	42	3	2351	3	MUC2	11	1083749	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08		1083749	133922767	44	11179											
TSPAN32	10077	broad.mit.edu	37	chr11	2337873	2337874	+	Frame_Shift_Ins	INS	-	-	G																															ggctgcagcttggaccgcaaINSgggcaaatacaccctgaccc																										TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr11:2337873_2337874insG	uc001lvy.1	+	7	832_833	c.695_696insG	c.(694-696)aagfs	p.K232fs	TSPAN32_uc010qxk.2_3'UTR|TSPAN32_uc009ydl.1_Non-coding_Transcript|TSPAN32_uc001lvz.1_Frame_Shift_Ins_p.K202fs|TSPAN32_uc001lwb.1_Frame_Shift_Ins_p.K202fs|TSPAN32_uc001lwc.1_Frame_Shift_Ins_p.K177fs|TSPAN32_uc001lwd.1_Frame_Shift_Ins_p.K164fs	NM_139022	NP_620591	Q96QS1	TSN32_HUMAN	Homo sapiens tetraspanin 32 (TSPAN32), mRNA.	232					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TTGGACCGCAAGGGCAAATACA	0.658													75	78	---	---	---	---						G	2337874	-	G	2337873	7	5	255	1	0	1	1	0	0	0	0	0	16644	72	3	0	725	0	TSPAN32	11	2337873	Frame_Shift_Ins	INS	-	TCGA-HT-A619-01A-11D-A29Q-08	1254124	2337873	132668643	45	11180											
C11orf41	25758	broad.mit.edu	37	chr11	33581347	33581347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caccttggtgtacgtcgtggGcaatcagagcacattcctca	9	10	10	12	2	2	1	2	0	0	1	4	1	3	1	2	2	2	3	2	2	2	3			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr11:33581347G>A	uc021qfs.1	+	5	3141	c.3017G>A	c.(3016-3018)gGc>gAc	p.G1006D	C11orf41_uc001mun.1_Missense_Mutation_p.G1012D	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	1006						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						TACGTCGTGGGCAATCAGAGC	0.577													4	180					0	0	1	0	0	A	33581347	G	A	33581347	3	1	255	1	0	0	0	0	1	0	0	0	1640	1203	42	3	3057	3	C11orf41	11	33581347	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	31243474	33581347	101425169	46	11181											
AHNAK	79026	broad.mit.edu	37	chr11	62289071	62289071	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagggaaacatccacatcaCccttcaccttgggacctttc	11	9	7	14	0	2	0	2	0	0	0	4	3	3	2	4	2	1	0	4	2	2	3			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr11:62289071C>G	uc001ntl.3	-	4	13118	c.12818G>C	c.(12817-12819)gGt>gCt	p.G4273A	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	4273					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCCACATCACCCTTCACCTT	0.493													7	346					0	0	1	0	0	G	62289071	C	G	62289071	3	3	255	1	0	0	0	0	1	0	0	0	414	507	18	5	4974	5	AHNAK	11	62289071	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	28707724	62289071	72717445	47	11182											
SLCO2B1	11309	broad.mit.edu	37	chr11	74904334	74904335	+	Frame_Shift_Ins	INS	-	-	TG																															ggtcctgtcccaggtatgctINStgtcatccatggctgcgggc																										TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr11:74904334_74904335insTG	uc001owb.3	+	8	1542_1543	c.1147_1148insTG	c.(1147-1149)ttgfs	p.L383fs	SLCO2B1_uc010rrq.2_Frame_Shift_Ins_p.L128fs|SLCO2B1_uc010rrr.2_Frame_Shift_Ins_p.L239fs|SLCO2B1_uc010rrs.2_Frame_Shift_Ins_p.L267fs|SLCO2B1_uc001owc.3_Frame_Shift_Ins_p.L156fs|SLCO2B1_uc001owd.3_Frame_Shift_Ins_p.L361fs	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	383					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CCAGGTATGCTTGTCATCCATG	0.624													71	91	---	---	---	---						TG	74904335	-	TG	74904334	7	5	255	1	0	1	1	0	0	0	0	0	14727	1606	56	0	1181	0	SLCO2B1	11	74904334	Frame_Shift_Ins	INS	-	TCGA-HT-A619-01A-11D-A29Q-08	12615263	74904334	60102182	48	11183											
PRPF40B	25766	broad.mit.edu	37	chr12	50037528	50037528	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaactaagaagagaagacAcaagtcggtgagtgaaggaa	20	4	13	4	1	0	5	0	2	0	3	1	8	0	6	0	2	1	0	0	2	8	1			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr12:50037528A>G	uc001rur.1	+	22	2435	c.2372A>G	c.(2371-2373)cAc>cGc	p.H791R	FMNL3_uc001ruv.1_3'UTR|FMNL3_uc001ruw.1_3'UTR|PRPF40B_uc001rup.1_Missense_Mutation_p.H812R|PRPF40B_uc001ruq.1_Missense_Mutation_p.H778R|PRPF40B_uc001rus.1_Missense_Mutation_p.H733R|FMNL3_uc001rut.1_3'UTR|FMNL3_uc001ruu.1_3'UTR	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	791					RNA splicing|mRNA processing	nuclear speck		p.H791R(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						AAGAGAAGACACAAGTCGGTG	0.463													27	22					0	0	1	0	0	G	50037528	A	G	50037528	3	3	255	1	0	0	0	0	1	0	0	0	12572	159	6	3	2462	3	PRPF40B	12	50037528	Missense_Mutation	SNP	A	TCGA-HT-A619-01A-11D-A29Q-08		50037528	83814367	49	11184											
CIT	11113	broad.mit.edu	37	chr12	120151065	120151065	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctccaggacaatgtactTcctgtcccagccttgctgtc	6	12	7	16	0	0	0	0	0	0	0	5	1	4	1	5	1	3	2	5	1	2	3			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr12:120151065T>C	uc001txj.2	-	34	4578	c.4522A>G	c.(4522-4524)Aag>Gag	p.K1508E	CIT_uc001txh.2_Missense_Mutation_p.K985E|CIT_uc001txi.2_Missense_Mutation_p.K1466E	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1466	PH.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ACAATGTACTTCCTGTCCCAG	0.443													131	154					0	0	1	0	0	C	120151065	T	C	120151065	3	2	255	1	0	0	0	0	1	0	0	0	3438	1792	62	3	1743	3	CIT	12	120151065	Missense_Mutation	SNP	T	TCGA-HT-A619-01A-11D-A29Q-08	70113537	120151065	13700830	50	11185											
WASF3	10810	broad.mit.edu	37	chr13	27239244	27239244	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcaaattctcttcaagaCagaattgatcgccttgctgt	12	12	8	9	1	2	4	1	1	1	3	4	4	2	4	1	0	2	2	1	0	3	4			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr13:27239244C>G	uc001uqv.3	+	3	438	c.213C>G	c.(211-213)gaC>gaG	p.D71E	WASF3_uc001uqw.3_Missense_Mutation_p.D71E	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	71					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CTCTTCAAGACAGAATTGATC	0.408													15	42					0	0	1	0	0	G	27239244	C	G	27239244	3	3	255	1	0	0	0	0	1	0	0	0	17251	477	17	5	219	5	WASF3	13	27239244	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08		27239244	87930634	51	11186											
OLFM4	10562	broad.mit.edu	37	chr13	53624246	53624246	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggactgtattgggtggcGccattgaatacagatgggag	12	9	15	5	1	0	2	0	1	0	1	0	4	0	4	1	4	1	1	1	4	4	4	rs147184057		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr13:53624246G>A	uc001vhl.3	+	4	969	c.873G>A	c.(871-873)gcG>gcA	p.A291A	OLFM4_uc001vhk.2_Intron	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	Homo sapiens olfactomedin 4 (OLFM4), mRNA.	291	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ATTGGGTGGCGCCATTGAATA	0.448													49	61					0	0	1	0	0	A	53624246	G	A	53624246	2	1	255	1	0	0	0	0	0	0	0	1	10855	1074	38	1		1	OLFM4	13	53624246	Silent	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	26385002	53624246	61545632	52	11187											
UGGT2	55757	broad.mit.edu	37	chr13	96592232	96592232	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttctttcttcatcatatttAgaatgaattcccaaaatatc	13	18	2	8	0	4	2	2	1	2	1	6	2	5	2	1	0	0	0	1	0	7	8			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr13:96592232A>G	uc001vmt.3	-	15	1961	c.1791T>C	c.(1789-1791)tcT>tcC	p.S597S		NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	597					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity	p.S597C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CATCATATTTAGAATGAATTC	0.358													14	28					0	0	1	0	0	G	96592232	A	G	96592232	2	3	255	1	0	0	0	0	0	0	0	1	16939	407	15	4		4	UGGT2	13	96592232	Silent	SNP	A	TCGA-HT-A619-01A-11D-A29Q-08	42967986	96592232	18577646	53	11188											
PELI2	57161	broad.mit.edu	37	chr14	56763754	56763754	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtgtgctcggagaagtctgCaaaatactggtctcagatcc	10	10	11	10	2	2	2	1	0	2	2	5	3	3	2	1	2	3	2	1	2	4	1			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr14:56763754C>G	uc001xch.3	+	5	1419	c.1133C>G	c.(1132-1134)gCa>gGa	p.A378G		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	Homo sapiens pellino homolog 2 (Drosophila) (PELI2), mRNA.	378					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						GAGAAGTCTGCAAAATACTGG	0.532													39	85					0	0	1	0	0	G	56763754	C	G	56763754	3	3	255	1	0	0	0	0	1	0	0	0	11722	710	25	5	1155	5	PELI2	14	56763754	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08		56763754	50585786	54	11189											
VPS18	57617	broad.mit.edu	37	chr15	41193149	41193149	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgagcatggccaccaccgCgcttgtgtccatgtctacaa	8	8	10	15	3	1	0	0	0	1	0	2	1	2	0	5	1	2	2	5	1	2	2	rs12914973	byFrequency	TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr15:41193149C>T	uc001zne.3	+	3	2472	c.2133C>T	c.(2131-2133)cgC>cgT	p.R711R		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	Homo sapiens vacuolar protein sorting 18 homolog (S. cerevisiae) (VPS18), mRNA.	711					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCCACCACCGCGCTTGTGTCC	0.632													51	12					0	0	1	0	0	T	41193149	C	T	41193149	2	4	255	1	0	0	0	0	0	0	0	1	17191	755	27	1		1	VPS18	15	41193149	Silent	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08		41193149	61338243	55	11190											
AP4E1	23431	broad.mit.edu	37	chr15	51289979	51289979	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtcttcttataaaattTggaaagatgattgtttattg	12	18	8	3	0	2	2	0	1	2	1	2	3	2	3	0	1	0	1	0	1	5	8			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr15:51289979T>C	uc001zyx.2	+	17	2910	c.2803T>C	c.(2803-2805)Tgg>Cgg	p.W935R	AP4E1_uc021skz.1_Missense_Mutation_p.W860R|AP4E1_uc010bex.1_Non-coding_Transcript	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA.	935					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TTATAAAATTTGGAAAGATGA	0.308													5	23					0	0	1	0	0	C	51289979	T	C	51289979	3	2	255	1	0	0	0	0	1	0	0	0	752	1812	63	3	2873	3	AP4E1	15	51289979	Missense_Mutation	SNP	T	TCGA-HT-A619-01A-11D-A29Q-08	10096830	51289979	51241413	56	11191											
HERC1	8925	broad.mit.edu	37	chr15	63935628	63935628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagaccaaatgttcatgagcCcacctagtccaccagacacc	14	6	6	15	0	1	3	1	1	0	2	2	3	2	3	6	0	1	1	6	0	3	2			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr15:63935628C>T	uc002amp.3	-	57	11454	c.11306G>A	c.(11305-11307)gGg>gAg	p.G3769E		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.	3769					protein modification process|transport	Golgi apparatus|cytosol|membrane	ARF guanyl-nucleotide exchange factor activity|acid-amino acid ligase 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						GTTCATGAGCCCACCTAGTCC	0.418													19	1					0	0	1	0	0	T	63935628	C	T	63935628	3	4	255	1	0	0	0	0	1	0	0	0	7057	623	22	3	3363	3	HERC1	15	63935628	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	12645649	63935628	38595764	57	11192											
THOC6	79228	broad.mit.edu	37	chr16	3075763	3075763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccatcttctcccagagcGtctcaccatgtgggaagttt	8	12	9	12	1	3	2	1	1	3	1	5	3	3	3	3	1	1	1	3	1	1	2			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr16:3075763G>A	uc002ctb.2	+	1	390	c.94G>A	c.(94-96)Gtc>Atc	p.V32I	HCFC1R1_uc002csx.1_5'Flank|HCFC1R1_uc002csy.1_5'Flank|HCFC1R1_uc002csz.1_5'Flank|THOC6_uc002ctd.2_Missense_Mutation_p.V32I|THOC6_uc002cta.2_Missense_Mutation_p.V8I	NM_024339	NP_077315	Q86W42	THOC6_HUMAN	Homo sapiens THO complex 6 homolog (Drosophila) (THOC6), transcript variant 1, mRNA.	32					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						CTCCCAGAGCGTCTCACCATG	0.567													20	92					0	0	1	0	0	A	3075763	G	A	3075763	3	1	255	1	0	0	0	0	1	0	0	0	15866	1145	40	1	100	1	THOC6	16	3075763	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08		3075763	87278990	58	11193											
RLTPR	146206	broad.mit.edu	37	chr16	67690171	67690171	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acggaggcccctcccatctcGatcaagtcccgcacccactc	8	6	7	20	3	2	0	1	0	1	0	6	2	4	1	5	2	0	1	5	2	1	0			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr16:67690171G>A	uc002etn.3	+	33	3903	c.3783G>A	c.(3781-3783)tcG>tcA	p.S1261S	RLTPR_uc010vjr.2_Silent_p.S1225S	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	1261										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CTCCCATCTCGATCAAGTCCC	0.582													11	169					0	0	1	0	0	A	67690171	G	A	67690171	2	1	255	1	0	0	0	0	0	0	0	1	13394	1045	37	2		2	RLTPR	16	67690171	Silent	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	64614408	67690171	22664582	59	11194											
MLKL	197259	broad.mit.edu	37	chr16	74725174	74725174	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaccacacaaaacaacttaCgcaatgctgccagcctggag	15	5	8	13	1	0	0	0	0	0	0	0	2	0	1	3	1	7	2	3	1	6	1	rs144019045	byFrequency	TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr16:74725174C>T	uc002fdb.2	-	4	1163	c.722_splice	c.e4+1	p.A241_splice	MLKL_uc002fdc.2_Intron	NM_152649	NP_689862	Q8NB16	MLKL_HUMAN	Homo sapiens mixed lineage kinase domain-like (MLKL), transcript variant 1, mRNA.	241	Protein kinase.						ATP binding|protein binding|protein kinase activity	p.?(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						aaacaacttacgcaatgcTGC	0.438													132	154					0	0	1	0	0	T	74725174	C	T	74725174	5	4	255	1	0	0	0	0	0	0	1	0	9619	550	19	1	755	1	MLKL	16	74725174	Splice_Site	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	7035003	74725174	15629579	60	11195											
MYOCD	93649	broad.mit.edu	37	chr17	12655844	12655844	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctctggcaacccagtgccGaactttggggatataacgac	10	9	11	11	2	1	0	0	0	1	0	1	3	1	1	2	3	5	2	2	3	4	3	rs150316964	byFrequency	TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr17:12655844G>A	uc002gno.2	+	9	1538	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	MYOCD_uc002gnn.2_Silent_p.P413P|MYOCD_uc002gnp.1_Silent_p.P317P|MYOCD_uc002gnq.2_Silent_p.P132P	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	413					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding	p.P413P(3)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACCCAGTGCCGAACTTTGGGG	0.552													55	76					0	0	1	0	0	A	12655844	G	A	12655844	2	1	255	1	0	0	0	0	0	0	0	1	10087	1045	37	2		2	MYOCD	17	12655844	Silent	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08		12655844	68539366	61	11196											
TAOK1	57551	broad.mit.edu	37	chr17	27849514	27849514	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaagcatgtcatggaagttCgacaacagcctaagagtttg	14	9	11	7	1	1	1	1	0	0	1	2	4	1	2	1	1	3	3	1	1	4	3			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr17:27849514C>T	uc002hdz.2	+	16	2319	c.2125C>T	c.(2125-2127)Cga>Tga	p.R709*	TAOK1_uc010wbe.2_Intron	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Homo sapiens TAO kinase 1 (TAOK1), transcript variant 1, mRNA.	709					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CATGGAAGTTCGACAACAGCC	0.398													52	71					0	0	1	0	0	T	27849514	C	T	27849514	4	4	255	1	0	0	0	0	0	1	0	0	15544	876	31	2	2187	2	TAOK1	17	27849514	Nonsense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	15193670	27849514	53345696	62	11197											
SYNRG	11276	broad.mit.edu	37	chr17	35913795	35913795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgctagaccagaatattccCcaaaaaggctgaattctcca	14	9	7	11	0	1	3	0	1	1	2	3	3	2	3	4	1	1	2	4	1	6	4			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr17:35913795C>T	uc002hoa.3	-	13	2113	c.2030G>A	c.(2029-2031)gGg>gAg	p.G677E	SYNRG_uc010wde.2_Missense_Mutation_p.G599E|SYNRG_uc010wdf.2_Missense_Mutation_p.G599E|SYNRG_uc002hoc.3_Missense_Mutation_p.G598E|SYNRG_uc002hoe.3_Missense_Mutation_p.G599E|SYNRG_uc002hod.3_Missense_Mutation_p.G599E|SYNRG_uc010wdg.2_Missense_Mutation_p.G516E|SYNRG_uc002hob.3_Missense_Mutation_p.G677E|SYNRG_uc002hof.3_Missense_Mutation_p.G389E|SYNRG_uc010cvd.1_Missense_Mutation_p.G477E	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	Homo sapiens synergin, gamma (SYNRG), transcript variant 1, mRNA.	677	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGAATATTCCCCAAAAAGGCT	0.433													39	58					0	0	1	0	0	T	35913795	C	T	35913795	3	4	255	1	0	0	0	0	1	0	0	0	15457	623	22	3	2023	3	SYNRG	17	35913795	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	8064281	35913795	45281415	63	11198											
KRT38	8687	broad.mit.edu	37	chr17	39595476	39595476	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgctcgtggttgctcttgagGgagagctgctcctccttcag	4	13	13	11	1	2	2	1	1	1	1	5	3	4	2	2	2	4	5	2	2	0	3			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr17:39595476G>C	uc002hwq.1	-	2	1134	c.711C>G	c.(709-711)tcC>tcG	p.S237S		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	237	Coil 1B.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TGCTCTTGAGGGAGAGCTGCT	0.657													30	40					0	0	1	0	0	C	39595476	G	C	39595476	2	2	255	1	0	0	0	0	0	0	0	1	8475	1219	43	5		5	KRT38	17	39595476	Silent	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	3681681	39595476	41599734	64	11199											
MUC16	94025	broad.mit.edu	37	chr19	9084076	9084076	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtttgctccagaggtgggtGtagttggggtctgtggtgaa	6	13	18	4	0	1	2	0	1	1	1	2	2	2	2	1	5	1	4	1	5	2	3			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr19:9084076G>T	uc002mkp.3	-	0	7943	c.7739C>A	c.(7738-7740)aCa>aAa	p.T2580K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2580	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGAGGTGGGTGTAGTTGGGGT	0.483													15	120					1.15088e-07	1.20504e-07	1	1	0	T	9084076	G	T	9084076	3	4	255	1	0	0	0	0	1	0	0	0	9973	1377	48	5	36120	5	MUC16	19	9084076	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08		9084076	50044907	65	11200											
CRTC1	23373	broad.mit.edu	37	chr19	18879357	18879357	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacgccttcttcacccaggcGggctcccagcagccaccgcc	6	6	9	20	3	2	0	1	0	1	0	3	0	3	0	6	2	3	2	6	2	1	3			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr19:18879357G>A	uc010ebv.3	+	10	1210	c.1122G>A	c.(1120-1122)gcG>gcA	p.A374A	CRTC1_uc002nkb.4_Silent_p.A358A|CRTC1_uc010ebw.3_Silent_p.A223A	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN	Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.	358					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						TCACCCAGGCGGGCTCCCAGC	0.751													8	17					0	0	1	0	0	A	18879357	G	A	18879357	2	1	255	1	0	0	0	0	0	0	0	1	3899	1103	39	2		2	CRTC1	19	18879357	Silent	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	9795281	18879357	40249626	66	11201											
CIC	23152	broad.mit.edu	37	chr19	42795608	42795609	+	Frame_Shift_Ins	INS	-	-	C																															agtctgtaccctccgccccaINSccccccaaaggtgagacctg																										TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr19:42795608_42795609insC	uc002otf.1	+	9	2728_2729	c.2688_2689insC	c.(2686-2691)ccacccfs	p.P896fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	896	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCTCCGCCCCACCCCCCAAAGG	0.609			"Mis, F, S"		oligodendroglioma								88	17	---	---	---	---						C	42795609	-	C	42795608	7	5	255	1	0	1	1	0	0	0	0	0	3424	146	6	0	2726	0	CIC	19	42795608	Frame_Shift_Ins	INS	-	TCGA-HT-A619-01A-11D-A29Q-08	23916251	42795608	16333375	67	11202											
COX4I2	84701	broad.mit.edu	37	chr20	30231298	30231298	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgtgtcttcttcttcatTggattcgcagctctggtgat	4	18	11	8	1	5	1	1	1	4	0	6	2	5	2	0	3	1	3	0	3	0	6			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr20:30231298T>C	uc002wwj.1	+	3	414	c.339T>C	c.(337-339)atT>atC	p.I113I		NM_032609	NP_115998	Q96KJ9	COX42_HUMAN	Homo sapiens cytochrome c oxidase subunit IV isoform 2 (lung) (COX4I2), nuclear gene encoding mitochondrial protein, mRNA.	113					cellular respiration		cytochrome-c oxidase activity			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			TCTTCTTCATTGGATTCGCAG	0.562													26	93					0	0	1	0	0	C	30231298	T	C	30231298	2	2	255	1	0	0	0	0	0	0	0	1	3770	1800	63	3		3	COX4I2	20	30231298	Silent	SNP	T	TCGA-HT-A619-01A-11D-A29Q-08		30231298	32794222	68	11203											
CRYBB3	1417	broad.mit.edu	37	chr22	25603098	25603098	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccactggaatgagtgggaCgccagccagccgcagctgca	9	4	14	14	3	0	1	0	1	0	0	0	3	0	3	4	2	4	3	4	2	1	0	rs140985147		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr22:25603098C>T	uc003abo.1	+	5	627	c.555C>T	c.(553-555)gaC>gaT	p.D185D		NM_004076	NP_004067	P26998	CRBB3_HUMAN	Homo sapiens crystallin, beta B3 (CRYBB3), mRNA.	185	Beta/gamma crystallin 'Greek key' 4.				visual perception		protein binding|structural constituent of eye lens			large_intestine(2)|lung(2)|prostate(1)	5						ATGAGTGGGACGCCAGCCAGC	0.652													6	69					0	0	1	0	0	T	25603098	C	T	25603098	2	4	255	1	0	0	0	0	0	0	0	1	3912	535	19	1		1	CRYBB3	22	25603098	Silent	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08		25603098	25701468	69	11204											
ACE2	59272	broad.mit.edu	37	chrX	15609937	15609937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctttcccaagcccagagcCtctcattgtagtctaaactg	10	11	7	13	0	2	1	1	0	2	1	4	1	3	1	3	0	4	2	3	0	4	4			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chrX:15609937C>T	uc004cxa.1	-	3	650	c.482G>A	c.(481-483)aGg>aAg	p.R161K	ACE2_uc004cxb.2_Missense_Mutation_p.R161K	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 (ACE2), mRNA.	161					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	AGCCCAGAGCCTCTCATTGTA	0.398													6	277					0	0	1	0	0	T	15609937	C	T	15609937	3	4	255	1	0	0	0	0	1	0	0	0	137	681	24	3	1995	3	ACE2	23	15609937	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08		15609937	139660623	70	11205											
HMCN1	83872	broad.mit.edu	37	chr1	186084409	186084409	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcctccatctattgctccGggtcctaccaacatgactgt	7	13	7	14	1	1	1	0	1	1	0	5	1	5	1	5	1	3	2	5	1	3	4			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr1:186084409G>A	uc001grq.1	+	74	11653	c.11424G>A	c.(11422-11424)ccG>ccA	p.P3808P	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3808	Ig-like C2-type 37.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTATTGCTCCGGGTCCTACCA	0.398													11	94					0	0	1	0	0	A	186084409	G	A	186084409	2	1	256	1	0	0	0	0	0	0	0	1	7220	1103	39	2		2	HMCN1	1	186084409	Silent	SNP	G	TCGA-HT-A61A-01A-11D-A29Q-08		186084409	63166212	1	11206											
GALNT14	79623	broad.mit.edu	37	chr2	31178596	31178596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgccccgaatccgggacCggaccagacctgcagtcagg	9	3	13	16	4	1	1	1	0	0	1	2	4	2	3	6	3	2	1	6	3	1	0			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr2:31178596C>T	uc002rns.3	-	6	1197	c.557G>A	c.(556-558)cGg>cAg	p.R186Q	GALNT14_uc002rnq.3_Missense_Mutation_p.R161Q|GALNT14_uc010ymr.2_Missense_Mutation_p.R146Q|GALNT14_uc002rnr.3_Missense_Mutation_p.R181Q|GALNT14_uc010ezo.2_Missense_Mutation_p.R148Q|GALNT14_uc010ezp.1_Missense_Mutation_p.R152Q	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	181	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					AATCCGGGACCGGACCAGACC	0.602													10	89					0	0	1	0	0	T	31178596	C	T	31178596	3	4	256	1	0	0	0	0	1	0	0	0	6212	652	23	2	1156	2	GALNT14	2	31178596	Missense_Mutation	SNP	C	TCGA-HT-A61A-01A-11D-A29Q-08		31178596	212020777	2	11207											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								5	66					0	0	1	0	0	T	209113112	C	T	209113112	3	4	256	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A61A-01A-11D-A29Q-08	177934516	209113112	34086261	3	11208											
CEP72	55722	broad.mit.edu	37	chr5	620298	620298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcgtggatgtggacttcCggctgaaccccgtggtgaag	7	9	15	10	3	0	2	0	2	0	0	2	4	1	4	3	4	2	2	3	4	2	1	rs148249239		TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr5:620298C>T	uc003jbf.3	+	2	397	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	CEP72_uc011clz.1_Non-coding_Transcript	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	Homo sapiens centrosomal protein 72kDa (CEP72), mRNA.	109					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			TGTGGACTTCCGGCTGAACCC	0.572													4	111					0	0	1	0	0	T	620298	C	T	620298	3	4	256	1	0	0	0	0	1	0	0	0	3260	643	23	2	335	2	CEP72	5	620298	Missense_Mutation	SNP	C	TCGA-HT-A61A-01A-11D-A29Q-08		620298	180294962	4	11209											
GHR	2690	broad.mit.edu	37	chr5	42699991	42699991	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagtttaactgggattcatGcagatatccaagtgagatgg	12	12	11	6	0	2	2	2	1	0	2	3	4	3	3	1	2	2	2	1	2	3	4			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr5:42699991G>T	uc021xxv.1	+	5	663	c.526G>T	c.(526-528)Gca>Tca	p.A176S	GHR_uc003jmt.3_Missense_Mutation_p.A169S|GHR_uc003jmu.3_Missense_Mutation_p.A169S|GHR_uc003jmv.2_Missense_Mutation_p.A169S|GHR_uc021xxw.1_Missense_Mutation_p.A169S|GHR_uc021xxx.1_Missense_Mutation_p.A169S|GHR_uc021xxy.1_Missense_Mutation_p.A169S|GHR_uc021xxz.1_Missense_Mutation_p.A169S|GHR_uc021xya.1_Missense_Mutation_p.A169S|GHR_uc021xyb.1_Missense_Mutation_p.A169S|GHR_uc021xyc.1_Missense_Mutation_p.A169S|GHR_uc011cpq.2_5'UTR|GHR_uc021xyd.1_Missense_Mutation_p.A147S	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	169	Fibronectin type-III.				2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGGGATTCATGCAGATATCCA	0.428													8	63					0.000274275	0.000287989	1	1	0	T	42699991	G	T	42699991	3	4	256	1	0	0	0	0	1	0	0	0	6371	1319	46	5	523	5	GHR	5	42699991	Missense_Mutation	SNP	G	TCGA-HT-A61A-01A-11D-A29Q-08	42079693	42699991	138215269	5	11210											
TNFAIP3	7128	broad.mit.edu	37	chr6	138201287	138201287	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgcctggggagggaatgCggcacccttggaagcaccat	8	6	15	12	2	0	0	0	0	0	0	0	3	0	3	4	5	3	2	4	5	2	1			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr6:138201287C>T	uc003qhr.3	+	7	2052	c.1986C>T	c.(1984-1986)tgC>tgT	p.C662C	TNFAIP3_uc003qhs.3_Silent_p.C662C	NM_006290	NP_006281	P21580	TNAP3_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 3 (TNFAIP3), mRNA.	662	Interaction with NAF1 (By similarity).				B-1 B cell homeostasis|anti-apoptosis|apoptosis|negative regulation of B cell activation|negative regulation of CD40 signaling pathway|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of bone resorption|negative regulation of endothelial cell apoptosis|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	DNA binding|caspase inhibitor activity|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)|p.C662fs*36(2)|p.E661*(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GGAGGGAATGCGGCACCCTTG	0.502			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"								4	75					0	0	1	0	0	T	138201287	C	T	138201287	2	4	256	1	0	0	0	0	0	0	0	1	16271	776	27	1		1	TNFAIP3	6	138201287	Silent	SNP	C	TCGA-HT-A61A-01A-11D-A29Q-08		138201287	32913780	6	11211											
POLR3A	11128	broad.mit.edu	37	chr10	79777419	79777419	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaggtgtctctctacgaTgtcaccatacttgagctctt	8	14	9	10	1	4	2	1	2	3	0	5	4	4	2	1	1	3	1	1	1	2	4			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr10:79777419T>C	uc001jzn.3	-	9	1478	c.1345A>G	c.(1345-1347)Atc>Gtc	p.I449V		NM_007055	NP_008986	O14802	RPC1_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA.	449					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CTCTCTACGATGTCACCATAC	0.448													14	82					0	0	1	0	0	C	79777419	T	C	79777419	3	2	256	1	0	0	0	0	1	0	0	0	12228	1464	51	3	2915	3	POLR3A	10	79777419	Missense_Mutation	SNP	T	TCGA-HT-A61A-01A-11D-A29Q-08		79777419	55757328	7	11212											
LTBP3	4054	broad.mit.edu	37	chr11	65306608	65306608	+	Frame_Shift_Del	DEL	T	T	-																															cggctgcgcgcgaagccggcTttgcagacgcagcggaagga																										TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr11:65306608delT	uc001oej.3	-	27	4124	c.3855delA	c.(3853-3855)aaafs	p.K1285fs	LTBP3_uc001oef.3_Frame_Shift_Del_p.K288fs|LTBP3_uc001oeg.3_Frame_Shift_Del_p.K241fs|LTBP3_uc001oeh.3_Frame_Shift_Del_p.K715fs|LTBP3_uc010roi.2_Frame_Shift_Del_p.K1121fs|LTBP3_uc001oei.3_Frame_Shift_Del_p.K1238fs|LTBP3_uc010roj.2_Frame_Shift_Del_p.K939fs	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.	1285	EGF-like 13; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CGAAGCCGGCTTTGCAGACGC	0.706													2	4	---	---	---	---						-	65306608	T	-	65306608	7	5	256	1	0	1	0	1	0	0	0	0	9075	1606	56	0	60	0	LTBP3	11	65306608	Frame_Shift_Del	DEL	T	TCGA-HT-A61A-01A-11D-A29Q-08		65306608	69699908	8	11213											
BRCA2	675	broad.mit.edu	37	chr13	32907165	32907165	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcacctaaagagactttcaAtgcaagtttttcaggtcata	14	13	6	8	0	4	1	4	0	0	1	4	2	4	1	1	1	1	2	1	1	5	5	rs80358439		TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr13:32907165A>G	uc001uub.1	+	9	1777	c.1550A>G	c.(1549-1551)aAt>aGt	p.N517S	BRCA2_uc001uua.1_Missense_Mutation_p.N394S	NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	517					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GAGACTTTCAATGCAAGTTTT	0.373			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			10	119					0	0	1	0	0	G	32907165	A	G	32907165	3	3	256	1	0	0	0	0	1	0	0	0	1499	101	4	3	1584	3	BRCA2	13	32907165	Missense_Mutation	SNP	A	TCGA-HT-A61A-01A-11D-A29Q-08		32907165	82262713	9	11214											
ALDH6A1	4329	broad.mit.edu	37	chr14	74535667	74535667	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttgatgtccggatgatCgcaaataaaatttacagctt	12	14	8	7	2	0	2	0	2	0	0	2	3	1	3	1	1	3	3	1	1	4	5			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr14:74535667C>A	uc001xpo.3	-	6	847	c.748G>T	c.(748-750)Gat>Tat	p.D250Y	C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010tuq.2_Missense_Mutation_p.D237Y|ALDH6A1_uc010asa.3_Missense_Mutation_p.D95Y	NM_005589	NP_005580	Q02252	MMSA_HUMAN	Homo sapiens aldehyde dehydrogenase 6 family, member A1 (ALDH6A1), nuclear gene encoding mitochondrial protein, mRNA.	250						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	TCCGGATGATCGCAAATAAAA	0.418													5	27					0.014758	0.014758	1	1	0	A	74535667	C	A	74535667	3	1	256	1	0	0	0	0	1	0	0	0	503	884	31	5	883	5	ALDH6A1	14	74535667	Missense_Mutation	SNP	C	TCGA-HT-A61A-01A-11D-A29Q-08		74535667	32813873	10	11215											
SPG11	80208	broad.mit.edu	37	chr15	44858098	44858098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagtccatcagcttgtggCggcccaagttgatgagcatt	9	11	11	10	1	1	2	1	2	0	0	2	2	2	2	2	2	3	3	2	2	2	4			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr15:44858098C>T	uc001ztx.3	-	37	6984	c.6953G>A	c.(6952-6954)cGc>cAc	p.R2318H	SPG11_uc010bdw.3_Missense_Mutation_p.R448H|SPG11_uc010ueh.2_Missense_Mutation_p.R2205H|SPG11_uc010uei.2_Intron	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	2318					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CAGCTTGTGGCGGCCCAAGTT	0.527													3	34					0	0	1	0	0	T	44858098	C	T	44858098	3	4	256	1	0	0	0	0	1	0	0	0	15040	768	27	1	390	1	SPG11	15	44858098	Missense_Mutation	SNP	C	TCGA-HT-A61A-01A-11D-A29Q-08		44858098	57673294	11	11216											
MYBBP1A	10514	broad.mit.edu	37	chr17	4445773	4445773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcacctgatgacggggccGcaccgggcccgtgatatgct	6	8	13	14	4	1	3	1	3	1	0	2	3	1	3	4	3	1	2	4	3	1	1			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr17:4445773G>A	uc002fxz.4	-	21	3135	c.3073C>T	c.(3073-3075)Cgg>Tgg	p.R1025W	MYBBP1A_uc002fyb.4_Missense_Mutation_p.R1025W|MYBBP1A_uc002fya.4_5'Flank|MYBBP1A_uc010vsa.2_Missense_Mutation_p.R67W	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	1025					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TGACGGGGCCGCACCGGGCCC	0.617													4	132					0	0	1	0	0	A	4445773	G	A	4445773	3	1	256	1	0	0	0	0	1	0	0	0	10008	1086	38	1	973	1	MYBBP1A	17	4445773	Missense_Mutation	SNP	G	TCGA-HT-A61A-01A-11D-A29Q-08		4445773	76749437	12	11217											
EPN2	22905	broad.mit.edu	37	chr17	19213263	19213263	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agactagtggagaagaggagCttcagctgcagctggcactt	11	8	14	8	0	1	3	1	0	0	3	1	5	1	4	0	3	4	5	0	3	2	3			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr17:19213263C>G	uc002gvd.4	+	4	1280	c.832C>G	c.(832-834)Ctt>Gtt	p.L278V	EPN2_uc010cql.1_5'UTR|EPN2_uc002gve.4_Missense_Mutation_p.L221V|EPN2_uc002gvf.4_5'UTR|EPN2_uc010vyo.2_5'UTR|EPN2_uc002gvh.1_Missense_Mutation_p.L278V|EPN2_uc010vyp.2_Missense_Mutation_p.L221V|EPN2_uc010vyq.2_Missense_Mutation_p.L221V	NM_014964	NP_001096134	O95208	EPN2_HUMAN	Homo sapiens epsin 2 (EPN2), transcript variant 2, mRNA.	278					endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					AGAAGAGGAGCTTCAGCTGCA	0.597													9	104					0	0	1	0	0	G	19213263	C	G	19213263	3	3	256	1	0	0	0	0	1	0	0	0	5186	797	28	5	842	5	EPN2	17	19213263	Missense_Mutation	SNP	C	TCGA-HT-A61A-01A-11D-A29Q-08	14767490	19213263	61981947	13	11218											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56704284	56704284	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggcagctgaacatcctgaaAttcatgtgccaagtctcagg	11	9	11	10	0	2	2	2	2	1	0	4	2	3	2	2	2	3	2	2	2	3	1			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr19:56704284A>G	uc010ygh.2	-	0	138	c.138T>C	c.(136-138)aaT>aaC	p.N46N		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	46	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N46N(3)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ACATCCTGAAATTCATGTGCC	0.577													3	36					0	0	1	0	0	G	56704284	A	G	56704284	2	3	256	1	0	0	0	0	0	0	0	1	18236	98	4	3		3	ZSCAN5B	19	56704284	Silent	SNP	A	TCGA-HT-A61A-01A-11D-A29Q-08		56704284	2424699	14	11219											
FTCD	10841	broad.mit.edu	37	chr21	47572855	47572855	+	Frame_Shift_Del	DEL	A	A	-																															tcctctgccagcctctggccAaaggcctgggcgcagagcac																										TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr21:47572855delA	uc002zig.3	-	2	377	c.333delT	c.(331-333)tttfs	p.F111fs	FTCD_uc002zif.3_Frame_Shift_Del_p.F111fs|FTCD_uc002zih.3_Frame_Shift_Del_p.F111fs|FTCD_uc010gqf.3_Frame_Shift_Del_p.F111fs|FTCD_uc010gqg.1_5'UTR			O95954	FTCD_HUMAN	Homo sapiens formiminotransferase cyclodeaminase (FTCD), transcript variant B, mRNA.	111	Formiminotransferase N-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	Golgi apparatus|centriole|cytosol	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GCCTCTGGCCAAAGGCCTGGG	0.672													2	4	---	---	---	---						-	47572855	A	-	47572855	7	5	256	1	0	1	0	1	0	0	0	0	6081	127	5	0	1340	0	FTCD	21	47572855	Frame_Shift_Del	DEL	A	TCGA-HT-A61A-01A-11D-A29Q-08		47572855	557040	15	11220											
MEGF6	1953	broad.mit.edu	37	chr1	3428609	3428609	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcccagctcatagcccgCgtgacacacgcacttgaagg	9	5	12	15	4	1	2	1	2	0	0	1	2	1	2	2	2	2	2	2	2	2	2			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr1:3428609C>A	uc001akl.3	-	7	1164	c.937G>T	c.(937-939)Gcg>Tcg	p.A313S	MEGF6_uc001akk.3_Missense_Mutation_p.A208S	NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	313	EGF-like 5; calcium-binding (Potential).		A -> V (in dbSNP:rs11585362).			extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TCATAGCCCGCGTGACACACG	0.667													70	72					3.89499e-28	4.20411e-28	1	1	0	A	3428609	C	A	3428609	3	1	257	1	0	0	0	0	1	0	0	0	9462	768	27	5	3808	5	MEGF6	1	3428609	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08		3428609	245822012	1	11221											
FAM43B	163933	broad.mit.edu	37	chr1	20880268	20880270	+	In_Frame_Del	DEL	GAG	GAG	-																															gcagcatccaggaggaggacGaggaggaggaggaggacgac																										TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr1:20880268_20880270delGAG	uc001bdj.3	+	0	1337_1339	c.802_804delGAG	c.(802-804)gagdel	p.E272del		NM_207334	NP_997217	Q6ZT52	FA43B_HUMAN	Homo sapiens family with sequence similarity 43, member B (FAM43B), mRNA.	272										large_intestine(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		ggaggaggacgaggaggaggagg	0.744													3	4	---	---	---	---						-	20880270	GAG	-	20880268	7	5	257	1	0	1	0	1	0	0	0	0	5563	1059	37	0	804	0	FAM43B	1	20880268	In_Frame_Del	DEL	GAG	TCGA-HT-A61B-01A-11D-A29Q-08	17451659	20880268	228370353	2	11222											
KCNA2	3737	broad.mit.edu	37	chr1	111146564	111146564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgctggccttgctgagCgtcctctggcttctcagcca	3	11	12	15	1	2	1	1	1	2	0	4	1	3	1	4	3	4	3	4	3	0	2			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr1:111146564C>T	uc021oro.1	-	0	841	c.841G>A	c.(841-843)Gct>Act	p.A281T	KCNA2_uc009wfv.2_Missense_Mutation_p.A281T|KCNA2_uc009wfw.3_Missense_Mutation_p.A281T	NM_004974	NP_004965	P16389	KCNA2_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 2 (KCNA2), transcript variant 1, mRNA.	281						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.D280V(1)		endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		CCTTGCTGAGCGTCCTCTGGC	0.522													6	174					0	0	1	0	0	T	111146564	C	T	111146564	3	4	257	1	0	0	0	0	1	0	0	0	8003	768	27	1	662	1	KCNA2	1	111146564	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	90266296	111146564	138104057	3	11223											
IPO9	55705	broad.mit.edu	37	chr1	201841994	201841994	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgctccagcatggcatcaAtgcagatgacaaacggctac	12	7	10	12	1	1	2	1	1	0	1	2	2	2	2	1	2	5	6	1	2	3	1	rs141172151		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr1:201841994A>G	uc001gwz.3	+	19	2665	c.2615A>G	c.(2614-2616)aAt>aGt	p.N872S		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	Homo sapiens importin 9 (IPO9), mRNA.	872					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CATGGCATCAATGCAGATGAC	0.527													20	82					0	0	1	0	0	G	201841994	A	G	201841994	3	3	257	1	0	0	0	0	1	0	0	0	7799	101	4	3	2693	3	IPO9	1	201841994	Missense_Mutation	SNP	A	TCGA-HT-A61B-01A-11D-A29Q-08	90695430	201841994	47408627	4	11224											
OR2T12	127064	broad.mit.edu	37	chr1	248458438	248458438	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtcagctgcacccaggAgccaggacgacatggtcatc	9	5	13	14	2	2	0	2	0	0	0	3	3	2	2	3	4	3	2	3	4	0	0			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr1:248458438A>G	uc010pzj.2	-	0	443	c.443T>C	c.(442-444)cTc>cCc	p.L148P		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L148H(2)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TGCACCCAGGAGCCAGGACGA	0.612													63	71					0	0	1	0	0	G	248458438	A	G	248458438	3	3	257	1	0	0	0	0	1	0	0	0	11019	304	11	4	522	4	OR2T12	1	248458438	Missense_Mutation	SNP	A	TCGA-HT-A61B-01A-11D-A29Q-08	46616444	248458438	792183	5	11225											
C2orf53	339779	broad.mit.edu	37	chr2	27360157	27360157	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgcctgggactgggtcGgcccgggcctgagctgctgg	2	8	20	11	2	0	1	0	1	0	0	1	2	0	2	3	6	3	2	3	6	0	0			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr2:27360157G>A	uc002rjb.2	-	2	1621	c.1041C>T	c.(1039-1041)gcC>gcT	p.A347A	PREB_uc002rix.1_5'Flank|PREB_uc002riy.1_5'Flank|C2orf53_uc021vfb.1_Silent_p.A347A	NM_178553	NP_848648	Q53SZ7	CB053_HUMAN	Homo sapiens chromosome 2 open reading frame 53 (C2orf53), mRNA.	347										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACTGGGTCGGCCCGGGCCT	0.637													38	106					0	0	1	0	0	A	27360157	G	A	27360157	2	1	257	1	0	0	0	0	0	0	0	1	2174	1103	39	2		2	C2orf53	2	27360157	Silent	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08		27360157	215839216	6	11226											
FAM126B	285172	broad.mit.edu	37	chr2	201876188	201876188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattgttcccatctttatcaGcgatttcctatagtcaaaaa	12	16	4	9	1	3	0	2	0	1	0	5	1	5	0	2	0	1	1	2	0	6	8			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr2:201876188G>A	uc002uws.4	-	5	529	c.341C>T	c.(340-342)gCt>gTt	p.A114V	FAM126B_uc002uwu.3_Missense_Mutation_p.A32V|FAM126B_uc002uwv.3_Missense_Mutation_p.A114V|FAM126B_uc002uww.1_Missense_Mutation_p.A114V	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	Homo sapiens family with sequence similarity 126, member B (FAM126B), mRNA.	114						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						ATCTTTATCAGCGATTTCCTA	0.303													7	10					0	0	1	0	0	A	201876188	G	A	201876188	3	1	257	1	0	0	0	0	1	0	0	0	5430	971	34	3	1279	3	FAM126B	2	201876188	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	174516031	201876188	41323185	7	11227											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								14	38					0	0	1	0	0	T	209113112	C	T	209113112	3	4	257	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	7236924	209113112	34086261	8	11228											
CCDC108	255101	broad.mit.edu	37	chr2	219868765	219868765	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattgcatggactcctgggActcaggctgtggtgtgggcc	5	10	15	11	0	1	0	1	0	0	0	2	2	2	2	3	5	1	2	3	5	0	1			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr2:219868765A>T	uc002vjl.1	-	32	5548	c.5464T>A	c.(5464-5466)Tcc>Acc	p.S1822T	MIR375_uc010fvz.1_5'Flank	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1822	Glu-rich.					integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACTCCTGGGACTCAGGCTGT	0.577													133	137					0	0	1	0	0	T	219868765	A	T	219868765	3	4	257	1	0	0	0	0	1	0	0	0	2743	275	10	5	325	5	CCDC108	2	219868765	Missense_Mutation	SNP	A	TCGA-HT-A61B-01A-11D-A29Q-08	10755653	219868765	23330608	9	11229											
ESPNL	339768	broad.mit.edu	37	chr2	239040177	239040177	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggatacggagcctggccGcaagtcaggtctgaccctgc	7	7	14	13	2	2	1	1	1	1	0	2	3	2	3	3	4	3	1	3	4	2	1	rs143407493		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr2:239040177G>A	uc002vxq.4	+	8	2932	c.2822G>A	c.(2821-2823)cGc>cAc	p.R941H	ESPNL_uc010fyw.3_Missense_Mutation_p.R637H	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	Homo sapiens espin-like (ESPNL), mRNA.	941										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GAGCCTGGCCGCAAGTCAGGT	0.731													3	33					0	0	1	0	0	A	239040177	G	A	239040177	3	1	257	1	0	0	0	0	1	0	0	0	5255	1087	38	1	2856	1	ESPNL	2	239040177	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	19171412	239040177	4159196	10	11230											
ITPR1	3708	broad.mit.edu	37	chr3	4699950	4699950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctgcgtggaggtgacaGccttgtcccaaggtatcatt	8	11	11	11	1	2	1	1	1	1	0	3	2	3	2	2	3	2	1	2	3	2	3	rs6766212		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr3:4699950G>A	uc003bqc.3	+	11	1444	c.1094G>A	c.(1093-1095)aGc>aAc	p.S365N	ITPR1_uc021wsi.1_Missense_Mutation_p.S380N|ITPR1_uc021wsj.1_Missense_Mutation_p.S365N|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	380	MIR 4.				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GGAGGTGACAGCCTTGTCCCA	0.493													8	56					0	0	1	0	0	A	4699950	G	A	4699950	3	1	257	1	0	0	0	0	1	0	0	0	7920	971	34	3	1181	3	ITPR1	3	4699950	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08		4699950	193322480	11	11231											
GOLGA4	2803	broad.mit.edu	37	chr3	37396655	37396655	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcagactcagaaaattttgGaaagagaagatgctcggctg	15	9	11	6	1	2	4	2	0	0	4	3	6	2	5	0	2	1	2	0	2	4	2			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr3:37396655G>T	uc003cgv.3	+	21	7000	c.6640G>T	c.(6640-6642)Gaa>Taa	p.E2214*	GOLGA4_uc003cgw.3_Nonsense_Mutation_p.E2229*|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Nonsense_Mutation_p.E2095*	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	2214	GRIP.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	p.L2213_E2214>F*(4)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAAAATTTTGGAAAGAGAAGA	0.383													27	52					2.25844e-05	2.32687e-05	1	1	0	T	37396655	G	T	37396655	4	4	257	1	0	0	0	0	0	1	0	0	6555	1175	41	5	6796	5	GOLGA4	3	37396655	Nonsense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	32696705	37396655	160625775	12	11232											
DNASE1L3	1776	broad.mit.edu	37	chr3	58190566	58190566	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcgtctccatcctgataGtcatggtagtgataactcct	8	14	8	11	1	3	2	1	2	2	0	6	2	5	2	3	1	2	1	3	1	3	3			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr3:58190566G>C	uc003djo.1	-	3	460	c.363C>G	c.(361-363)gaC>gaG	p.D121E	DNASE1L3_uc011bfd.1_Missense_Mutation_p.D91E|DNASE1L3_uc003djp.1_Missense_Mutation_p.D121E|DNASE1L3_uc003djq.1_Missense_Mutation_p.D121E	NM_004944	NP_004935	Q13609	DNSL3_HUMAN	Homo sapiens deoxyribonuclease I-like 3 (DNASE1L3), mRNA.	121					DNA catabolic process|apoptosis	nucleus	DNA binding|calcium ion binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		CATCCTGATAGTCATGGTAGT	0.493													12	54					0	0	1	0	0	C	58190566	G	C	58190566	3	2	257	1	0	0	0	0	1	0	0	0	4663	1020	36	5	574	5	DNASE1L3	3	58190566	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	20793911	58190566	139831864	13	11233											
TP63	8626	broad.mit.edu	37	chr3	189604292	189604292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcttatcaaccctcagcagCgcaacgccctcactcctaca	11	7	5	18	2	3	0	3	0	0	0	4	0	4	0	3	0	6	3	3	0	4	2			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr3:189604292C>T	uc003fry.2	+	10	1548	c.1459C>T	c.(1459-1461)Cgc>Tgc	p.R487C	TP63_uc003frz.2_Missense_Mutation_p.R487C|TP63_uc010hzc.1_Missense_Mutation_p.R487C|TP63_uc003fsc.2_Missense_Mutation_p.R393C|TP63_uc003fsd.2_Missense_Mutation_p.R393C|TP63_uc021xir.1_Missense_Mutation_p.R393C|TP63_uc010hzd.1_Missense_Mutation_p.R308C	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	487					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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q486Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCCTCAGCAGCGCAACGCCCT	0.502										HNSCC(45;0.13)			24	57					0	0	1	0	0	T	189604292	C	T	189604292	3	4	257	1	0	0	0	0	1	0	0	0	16389	768	27	1	1666	1	TP63	3	189604292	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	131413726	189604292	8418138	14	11234											
TMPRSS11F	389208	broad.mit.edu	37	chr4	68935722	68935722	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctcatctttttgctgtcaAtagctggaataagcaaaaca	13	13	6	9	0	3	0	2	0	1	0	4	1	4	1	1	1	4	3	1	1	6	4			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr4:68935722A>C	uc003hdt.1	-	5	567	c.518T>G	c.(517-519)aTt>aGt	p.I173S	LOC550112_uc003hdl.4_Intron|BC041902_uc011cak.2_Intron	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	Homo sapiens transmembrane protease, serine 11F (TMPRSS11F), mRNA.	173	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TTTGCTGTCAATAGCTGGAAT	0.313													31	79					0	0	1	0	0	C	68935722	A	C	68935722	3	2	257	1	0	0	0	0	1	0	0	0	16240	101	4	5	818	5	TMPRSS11F	4	68935722	Missense_Mutation	SNP	A	TCGA-HT-A61B-01A-11D-A29Q-08		68935722	122218554	15	11235											
MMAA	166785	broad.mit.edu	37	chr4	146560298	146560298	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaataaaacgaatatgcccAtgctgctaccacatcctcac	15	8	4	14	1	1	0	1	0	0	0	2	1	2	0	3	0	5	2	3	0	6	3			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr4:146560298A>G	uc003ikh.4	+	1	92	c.7A>G	c.(7-9)Atg>Gtg	p.M3V	MMAA_uc010iow.3_Non-coding_Transcript	NM_172250	NP_758454	Q8IVH4	MMAA_HUMAN	Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA), nuclear gene encoding mitochondrial protein, mRNA.	3						mitochondrion	GTP binding|nucleoside-triphosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAATATGCCCATGCTGCTACC	0.423													69	97					0	0	1	0	0	G	146560298	A	G	146560298	3	3	257	1	0	0	0	0	1	0	0	0	9639	217	8	3	9	3	MMAA	4	146560298	Missense_Mutation	SNP	A	TCGA-HT-A61B-01A-11D-A29Q-08	77624576	146560298	44593978	16	11236											
SDHA	6389	broad.mit.edu	37	chr5	256470	256470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactctggaatatagacccGtgatcgacaaaactttgaac	14	10	7	10	2	2	3	1	2	1	1	3	5	2	4	1	1	2	0	1	1	6	3	rs3211483		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:256470G>A	uc003jao.4	+	14	2045	c.1930G>A	c.(1930-1932)Gtg>Atg	p.V644M	SDHA_uc011clw.2_Missense_Mutation_p.V596M|SDHA_uc003jaq.4_Missense_Mutation_p.V419M|SDHA_uc021xvu.1_Missense_Mutation_p.V338M	NM_004168	NP_004159	P31040	DHSA_HUMAN	Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (SDHA), nuclear gene encoding mitochondrial protein, mRNA.	644					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ATATAGACCCGTGATCGACAA	0.428									Familial Paragangliomas				5	177					0	0	1	0	0	A	256470	G	A	256470	3	1	257	1	0	0	0	0	1	0	0	0	13963	1145	40	1	1988	1	SDHA	5	256470	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08		256470	180658790	17	11237											
CDH12	1010	broad.mit.edu	37	chr5	21752319	21752319	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcttttttcttctgccttcGcagtgctacatacagtacaa	8	16	6	11	1	3	0	0	0	3	0	4	0	3	0	1	0	5	3	1	0	4	8			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:21752319G>A	uc010iuc.2	-	11	2370	c.1912C>T	c.(1912-1914)Cga>Tga	p.R638*	CDH12_uc011cno.1_Nonsense_Mutation_p.R598*|CDH12_uc003jgk.2_Nonsense_Mutation_p.R638*|BC038535_uc003jgj.3_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	638					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L637Q(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTCTGCCTTCGCAGTGCTACA	0.398										HNSCC(59;0.17)			34	11					0	0	1	0	0	A	21752319	G	A	21752319	4	1	257	1	0	0	0	0	0	1	0	0	3098	1095	38	1	476	1	CDH12	5	21752319	Nonsense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	21495849	21752319	159162941	18	11238											
MRPS27	23107	broad.mit.edu	37	chr5	71593520	71593520	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgttttatccattaaagatGcaagatcagctgtgaagaca	15	12	8	6	0	1	4	1	1	0	3	2	4	2	4	1	0	2	3	1	0	5	3			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:71593520G>C	uc011cse.2	-	2	197	c.161C>G	c.(160-162)gCa>gGa	p.A54G	MRPS27_uc003kca.4_5'UTR|MRPS27_uc003kbz.4_Missense_Mutation_p.A54G|MRPS27_uc010iza.3_5'UTR	NM_015084	NP_055899	Q92552	RT27_HUMAN	Homo sapiens mitochondrial ribosomal protein S27 (MRPS27), nuclear gene encoding mitochondrial protein, mRNA.	54						mitochondrion|ribosome				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		CATTAAAGATGCAAGATCAGC	0.294													4	14					0	0	1	0	0	C	71593520	G	C	71593520	3	2	257	1	0	0	0	0	1	0	0	0	9838	1319	46	5	1119	5	MRPS27	5	71593520	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	49841201	71593520	109321740	19	11239											
PCDHAC2	56134	broad.mit.edu	37	chr5	140167485	140167485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagttccaggtgagcgCgcgggatgcgggcgtgccgc	4	6	19	12	6	0	1	0	1	0	0	1	2	1	2	2	3	4	3	2	3	0	1			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:140167485C>T	uc003lhb.2	+	0	1610	c.1610C>T	c.(1609-1611)gCg>gTg	p.A537V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Missense_Mutation_p.A537V	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	551	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGTGAGCGCGCGGGATGCG	0.677													16	296					0	0	1	0	0	T	140167485	C	T	140167485	3	4	257	1	0	0	0	0	1	0	0	0	11533	768	27	1		1	PCDHAC2	5	140167485	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	68573965	140167485	40747775	20	11240											
PCDHAC2	56134	broad.mit.edu	37	chr5	140176511	140176511	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtgctggtgaaggaccaCggcgaaccagcgttgacagc	9	6	14	12	4	0	2	0	2	0	0	1	4	0	3	2	3	4	2	2	3	2	1			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:140176511C>T	uc003lhd.2	+	0	2068	c.1962C>T	c.(1960-1962)caC>caT	p.H654H	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.H654H|PCDHAC2_uc011czy.2_Silent_p.H654H	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	665	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.G653S(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAGGACCACGGCGAACCAG	0.667													4	141					0	0	1	0	0	T	140176511	C	T	140176511	2	4	257	1	0	0	0	0	0	0	0	1	11533	535	19	1		1	PCDHAC2	5	140176511	Silent	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	9026	140176511	40738749	21	11241											
STK32A	202374	broad.mit.edu	37	chr5	146657719	146657719	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttgaaattttgcgagccAttgggaaaggcagttttggg	10	13	13	5	1	0	1	0	1	0	0	0	3	0	2	1	3	2	2	1	3	2	6			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:146657719A>G	uc011dbw.1	+	2	365	c.85A>G	c.(85-87)Att>Gtt	p.I29V	STK32A_uc003lol.4_Missense_Mutation_p.I29V|STK32A_uc003lom.2_Missense_Mutation_p.I29V|STK32A_uc010jgn.1_Missense_Mutation_p.I29V	NM_001112724	NP_001106195	Q8WU08	ST32A_HUMAN	Homo sapiens serine/threonine kinase 32A (STK32A), transcript variant 1, mRNA.	29	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTGCGAGCCATTGGGAAAGG	0.358													5	11					0	0	1	0	0	G	146657719	A	G	146657719	3	3	257	1	0	0	0	0	1	0	0	0	15296	217	8	3	91	3	STK32A	5	146657719	Missense_Mutation	SNP	A	TCGA-HT-A61B-01A-11D-A29Q-08	6481208	146657719	34257541	22	11242											
FAT2	2196	broad.mit.edu	37	chr5	150947117	150947117	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taccatcataggaagacctgTtgaagaggggggcatggttg	11	9	15	6	0	1	3	1	1	0	2	1	4	1	4	2	5	1	3	2	5	4	4			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:150947117T>C	uc003lue.4	-	0	1389	c.1376A>G	c.(1375-1377)aAc>aGc	p.N459S	FAT2_uc010jhx.1_Missense_Mutation_p.N459S	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	459	Cadherin 4.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAAGACCTGTTGAAGAGGGG	0.537													56	91					0	0	1	0	0	C	150947117	T	C	150947117	3	2	257	1	0	0	0	0	1	0	0	0	5690	1725	60	3	11765	3	FAT2	5	150947117	Missense_Mutation	SNP	T	TCGA-HT-A61B-01A-11D-A29Q-08	4289398	150947117	29968143	23	11243											
RUFY1	80230	broad.mit.edu	37	chr5	178996303	178996303	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcctgtccatctctttcagCgagttctatgagcctgaggc	6	13	10	12	1	3	2	1	2	2	0	6	3	5	2	3	1	2	1	3	1	1	3	rs141995707		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:178996303C>T	uc003mka.1	+	5	705	c.705_splice	c.e5-1	p.S235_splice	RUFY1_uc003mkb.1_Splice_Site_p.S127_splice|RUFY1_uc003mkc.1_Splice_Site_p.S127_splice	NM_025158	NP_001035542	Q96T51	RUFY1_HUMAN	Homo sapiens RUN and FYVE domain containing 1 (RUFY1), transcript variant 1, mRNA.	235	RUN.				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTCTTTCAGCGAGTTCTATG	0.527										HNSCC(44;0.11)			6	173					0	0	1	0	0	T	178996303	C	T	178996303	5	4	257	1	0	0	0	0	0	0	1	0	13738	782	27	1	723	1	RUFY1	5	178996303	Splice_Site	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	28049186	178996303	1918957	24	11244											
LRRC16A	55604	broad.mit.edu	37	chr6	25517626	25517626	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcacaaggctttcaggatatAgctgttgctatggaaaagta	13	11	11	6	0	1	0	1	0	0	0	1	2	1	2	0	3	2	6	0	3	7	6			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr6:25517626A>G	uc011djw.2	+	21	2225	c.1857A>G	c.(1855-1857)atA>atG	p.I619M	LRRC16A_uc010jpy.3_Missense_Mutation_p.I619M	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.	619					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TTCAGGATATAGCTGTTGCTA	0.313													23	41					0	0	1	0	0	G	25517626	A	G	25517626	3	3	257	1	0	0	0	0	1	0	0	0	8971	410	15	4	1943	4	LRRC16A	6	25517626	Missense_Mutation	SNP	A	TCGA-HT-A61B-01A-11D-A29Q-08		25517626	145597441	25	11245											
SLC17A5	26503	broad.mit.edu	37	chr6	74331529	74331529	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgattattttttcttacctCttgaacattgaaccttagga	11	18	5	7	0	2	3	0	3	2	0	2	4	2	4	2	1	3	0	2	1	5	8			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr6:74331529C>G	uc003phn.4	-	6	1104	c.976G>C	c.(976-978)Gag>Cag	p.E326Q	SLC17A5_uc010kax.3_Intron|SLC17A5_uc010kay.3_Non-coding_Transcript|SLC17A5_uc011dyo.1_Missense_Mutation_p.E195Q	NM_012434	NP_036566	Q9NRA2	S17A5_HUMAN	Homo sapiens solute carrier family 17 (anion/sugar transporter), member 5 (SLC17A5), mRNA.	326					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTTCTTACCTCTTGAACATTG	0.308													7	19					0	0	1	0	0	G	74331529	C	G	74331529	3	3	257	1	0	0	0	0	1	0	0	0	14420	922	32	5	531	5	SLC17A5	6	74331529	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	48813903	74331529	96783538	26	11246											
FAM188B	84182	broad.mit.edu	37	chr7	30898919	30898919	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctcaccctttctgccaTcctgtccaggtctacagagc	6	11	7	17	0	3	1	1	0	2	1	5	1	5	1	5	1	4	1	5	1	1	2			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr7:30898919T>C	uc003tbt.3	+	12	1801	c.1724T>C	c.(1723-1725)aTc>aCc	p.I575T	FAM188B_uc010kwe.3_Missense_Mutation_p.I546T|FAM188B_uc011kac.1_5'UTR|FAM188B_uc003tbu.3_Missense_Mutation_p.I95T	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.	575										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTTCTGCCATCCTGTCCAGG	0.567													16	63					0	0	1	0	0	C	30898919	T	C	30898919	3	2	257	1	0	0	0	0	1	0	0	0	5515	1435	50	3	1774	3	FAM188B	7	30898919	Missense_Mutation	SNP	T	TCGA-HT-A61B-01A-11D-A29Q-08		30898919	128239744	27	11247											
ZAN	7455	broad.mit.edu	37	chr7	100363082	100363082	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctcagaccggtgcgtggagGcctgtgaatgcaatccgggc	7	7	16	11	3	1	2	1	1	0	1	2	3	2	3	3	4	2	2	3	4	2	0			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr7:100363082G>T	uc003uwj.3	+	22	4540	c.4375G>T	c.(4375-4377)Gcc>Tcc	p.A1459S	ZAN_uc003uwk.3_Missense_Mutation_p.A1459S|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_Missense_Mutation_p.A36S	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1459	TIL 2.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GTGCGTGGAGGCCTGTGAATG	0.612													13	36					0.000151284	0.000153542	1	1	0	T	100363082	G	T	100363082	3	4	257	1	0	0	0	0	1	0	0	0	17510	1203	42	5	4461	5	ZAN	7	100363082	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	69464163	100363082	58775581	28	11248											
NOS3	4846	broad.mit.edu	37	chr7	150704000	150704000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttataagatccgcttcaacaGcatctcctgctcagacccac	11	10	5	15	1	3	2	2	0	1	2	5	2	4	2	3	0	3	3	3	0	3	3			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr7:150704000G>A	uc003wif.3	+	15	2140	c.1844G>A	c.(1843-1845)aGc>aAc	p.S615N	NOS3_uc011kuy.2_Missense_Mutation_p.S409N	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	615	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CGCTTCAACAGCATCTCCTGC	0.607													4	171					0	0	1	0	0	A	150704000	G	A	150704000	3	1	257	1	0	0	0	0	1	0	0	0	10544	971	34	3	2184	3	NOS3	7	150704000	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	50340918	150704000	8434663	29	11249											
TG	7038	broad.mit.edu	37	chr8	134145854	134145854	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcgacagggcctgaagaaagCcgactgctccttctggtcca	9	8	11	13	2	1	2	0	1	1	1	4	4	3	2	4	2	2	1	4	2	2	1			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr8:134145854C>G	uc003ytw.3	+	46	8179	c.8138C>G	c.(8137-8139)gCc>gGc	p.A2713G	TG_uc010mdw.3_Missense_Mutation_p.A1472G|TG_uc011ljb.2_Missense_Mutation_p.A1082G|TG_uc011ljc.2_Missense_Mutation_p.A846G	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2713					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTGAAGAAAGCCGACTGCTCC	0.547													11	43					0	0	1	0	0	G	134145854	C	G	134145854	3	3	257	1	0	0	0	0	1	0	0	0	15810	739	26	5	8324	5	TG	8	134145854	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08		134145854	12218168	30	11250											
ST3GAL1	6482	broad.mit.edu	37	chr8	134488257	134488257	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcagggtcctcttccgcAgggtcaccatcttcgcagtc	5	12	9	15	2	4	0	2	0	2	0	8	0	6	0	3	2	0	2	3	2	0	3			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr8:134488257A>G	uc003yuk.2	-	4	840	c.11T>C	c.(10-12)cTg>cCg	p.L4P	ST3GAL1_uc003yum.2_Missense_Mutation_p.L4P	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 1 (ST3GAL1), transcript variant 2, mRNA.	4					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			CCTCTTCCGCAGGGTCACCAT	0.552													35	70					0	0	1	0	0	G	134488257	A	G	134488257	3	3	257	1	0	0	0	0	1	0	0	0	15213	188	7	4	1035	4	ST3GAL1	8	134488257	Missense_Mutation	SNP	A	TCGA-HT-A61B-01A-11D-A29Q-08	342403	134488257	11875765	31	11251											
GBA2	57704	broad.mit.edu	37	chr9	35741041	35741041	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacatcccacacaaagacTcctacaggcaggctgctgtc	11	7	7	16	0	0	1	0	0	0	1	4	1	3	1	3	2	2	3	3	2	2	1			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr9:35741041T>C	uc011lpd.2	-	5	1324	c.825A>G	c.(823-825)ggA>ggG	p.G275G	GBA2_uc003zxw.3_Silent_p.G269G|GBA2_uc003zxx.1_5'Flank|GBA2_uc011lpb.1_Silent_p.G269G|GBA2_uc011lpc.1_Silent_p.G269G|GBA2_uc003zxy.1_5'UTR	NM_020944	NP_065995	Q9HCG7	GBA2_HUMAN	Homo sapiens glucosidase, beta (bile acid) 2 (GBA2), mRNA.	269					O-glycoside catabolic process|bile acid metabolic process|glucosylceramide catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACACAAAGACTCCTACAGGCA	0.567													19	64					0	0	1	0	0	C	35741041	T	C	35741041	2	2	257	1	0	0	0	0	0	0	0	1	6267	1538	54	4		4	GBA2	9	35741041	Silent	SNP	T	TCGA-HT-A61B-01A-11D-A29Q-08		35741041	105472390	32	11252											
TTF1	7270	broad.mit.edu	37	chr9	135275446	135275446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctttaaattccttaaaccGttccaagtcgtcccggtaca	10	13	6	12	3	0	0	0	0	0	0	4	0	3	0	4	1	3	3	4	1	6	6			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr9:135275446G>A	uc004cbl.3	-	2	1636	c.1567C>T	c.(1567-1569)Cgg>Tgg	p.R523W	TTF1_uc004cbm.3_Missense_Mutation_p.R8W|TTF1_uc011mcp.2_Non-coding_Transcript	NM_007344	NP_031370	Q15361	TTF1_HUMAN	Homo sapiens transcription termination factor, RNA polymerase I (TTF1), transcript variant 1, mRNA.	523					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TCCTTAAACCGTTCCAAGTCG	0.468													24	114					0	0	1	0	0	A	135275446	G	A	135275446	3	1	257	1	0	0	0	0	1	0	0	0	16715	1144	40	1	1186	1	TTF1	9	135275446	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	99534405	135275446	5937985	33	11253											
HNRNPF	3185	broad.mit.edu	37	chr10	43882166	43882166	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactggctctccaggccactGtaagtggcctgggcagcaga	8	7	14	12	0	1	1	0	0	1	1	2	2	1	1	3	4	1	4	3	4	1	1			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr10:43882166G>A	uc009xmh.1	-	2	1654	c.1167C>T	c.(1165-1167)taC>taT	p.Y389Y	HNRNPF_uc001jar.2_Silent_p.Y389Y|HNRNPF_uc001jas.2_Silent_p.Y389Y|HNRNPF_uc001jat.2_Silent_p.Y389Y|HNRNPF_uc001jav.2_Silent_p.Y389Y|HNRNPF_uc001jau.2_Silent_p.Y389Y|HNRNPF_uc021ppg.1_Silent_p.Y389Y|HNRNPF_uc010qfa.1_5'UTR	NM_001098208	NP_004957	P52597	HNRPF_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein F (HNRNPF), transcript variant 1, mRNA.	389					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.Y389Y(6)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						CCAGGCCACTGTAAGTGGCCT	0.537													113	141					0	0	1	0	0	A	43882166	G	A	43882166	2	1	257	1	0	0	0	0	0	0	0	1	7265	1372	48	3		3	HNRNPF	10	43882166	Silent	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08		43882166	91652581	34	11254											
PAX2	5076	broad.mit.edu	37	chr10	102541110	102541110	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccaatggtgagaagaggAaacgtgatgaaggtagggag	14	6	17	4	1	0	4	0	3	0	2	1	7	1	6	1	4	1	2	1	4	5	1			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr10:102541110A>G	uc001krk.4	+	4	1154	c.604A>G	c.(604-606)Aaa>Gaa	p.K202E	PAX2_uc001krm.4_Missense_Mutation_p.K202E|PAX2_uc001krn.4_Missense_Mutation_p.K202E|PAX2_uc001kro.4_Missense_Mutation_p.K202E|PAX2_uc010qps.2_Missense_Mutation_p.K201E|PAX2_uc001krl.4_Missense_Mutation_p.K202E|PAX2_uc001krp.1_Intron	NM_003990	NP_003981	Q02962	PAX2_HUMAN	Homo sapiens paired box 2 (PAX2), transcript variant e, mRNA.	202					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TGAGAAGAGGAAACGTGATGA	0.587													26	178					0	0	1	0	0	G	102541110	A	G	102541110	3	3	257	1	0	0	0	0	1	0	0	0	11479	247	9	3	622	3	PAX2	10	102541110	Missense_Mutation	SNP	A	TCGA-HT-A61B-01A-11D-A29Q-08	58658944	102541110	32993637	35	11255											
PWWP2B	170394	broad.mit.edu	37	chr10	134219372	134219372	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacggcgcgtcagcgccctcGgtgtccagagaggctcgcca	6	5	14	16	6	1	1	1	0	0	1	4	2	2	1	3	3	1	1	3	3	0	0			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr10:134219372G>A	uc001lll.4	+	1	1397	c.1368G>A	c.(1366-1368)tcG>tcA	p.S456S	PWWP2B_uc009ybe.3_Silent_p.S456S	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA.	456										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CAGCGCCCTCGGTGTCCAGAG	0.701													34	58					0	0	1	0	0	A	134219372	G	A	134219372	2	1	257	1	0	0	0	0	0	0	0	1	12846	1103	39	2		2	PWWP2B	10	134219372	Silent	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	31678262	134219372	1315375	36	11256											
OR51Q1	390061	broad.mit.edu	37	chr11	5444223	5444223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggtgtatctatgactcatCgctttgccaagcatgcctct	7	15	8	11	1	3	1	1	1	2	0	4	1	3	1	2	1	3	3	2	1	3	4			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr11:5444223C>T	uc010qzd.2	+	0	883	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATGACTCATCGCTTTGCCAA	0.517													26	47					0	0	1	0	0	T	5444223	C	T	5444223	3	4	257	1	0	0	0	0	1	0	0	0	11104	884	31	2	795	2	OR51Q1	11	5444223	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08		5444223	129562293	37	11257											
FLRT1	23769	broad.mit.edu	37	chr11	63884997	63884997	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggccaaaaggccagggctgCgcctccccgactccaacatt	10	5	10	16	2	0	0	0	0	0	0	2	1	2	0	6	3	2	1	6	3	3	1			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr11:63884997C>T	uc021qks.1	+	0	1258	c.1258C>T	c.(1258-1260)Cgc>Tgc	p.R420C	MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Missense_Mutation_p.R420C	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.	392	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						GCCAGGGCTGCGCCTCCCCGA	0.652													5	26					0	0	1	0	0	T	63884997	C	T	63884997	3	4	257	1	0	0	0	0	1	0	0	0	5938	768	27	1	1260	1	FLRT1	11	63884997	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	58440774	63884997	71121519	38	11258											
STK38L	23012	broad.mit.edu	37	chr12	27467498	27467498	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaaacacagttctaCatttcagagactgttctggc	13	10	10	8	0	3	2	1	0	2	2	3	5	3	3	0	2	2	2	0	2	3	4			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr12:27467498C>T	uc001rhr.3	+	6	778	c.579C>T	c.(577-579)taC>taT	p.Y193Y	STK38L_uc010sjm.2_Silent_p.Y100Y|STK38L_uc010sjn.2_5'UTR	NM_015000	NP_055815	Q9Y2H1	ST38L_HUMAN	Homo sapiens serine/threonine kinase 38 like (STK38L), mRNA.	193	Protein kinase.				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	ATP binding|actin binding|magnesium ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					CACAGTTCTACATTTCAGAGA	0.383													9	43					0	0	1	0	0	T	27467498	C	T	27467498	2	4	257	1	0	0	0	0	0	0	0	1	15303	489	17	3		3	STK38L	12	27467498	Silent	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08		27467498	106384397	39	11259											
TMEM132B	114795	broad.mit.edu	37	chr12	126135302	126135302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccctgcagtaccagcacGccacagtgcgtgtcctcacc	7	7	9	18	2	1	0	1	0	0	0	3	0	3	0	5	0	4	4	5	0	1	1			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr12:126135302G>A	uc001uhe.1	+	6	1710	c.1702G>A	c.(1702-1704)Gcc>Acc	p.A568T	TMEM132B_uc001uhf.1_Missense_Mutation_p.A80T	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	568						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTACCAGCACGCCACAGTGCG	0.587													9	67					0	0	1	0	0	A	126135302	G	A	126135302	3	1	257	1	0	0	0	0	1	0	0	0	16043	1087	38	1	1728	1	TMEM132B	12	126135302	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	98667804	126135302	7716593	40	11260											
EAPP	55837	broad.mit.edu	37	chr14	35008834	35008834	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatccggaagccggttcaTggtggcctgcagcggcctac	6	8	14	13	3	2	0	2	0	0	0	3	1	3	1	4	5	4	2	4	5	2	2			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr14:35008834T>C	uc001wsd.1	-	0	110	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_018453	NP_060923	Q56P03	EAPP_HUMAN	Homo sapiens E2F-associated phosphoprotein (EAPP), mRNA.	1					negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		AGCCGGTTCATGGTGGCCTGC	0.637													16	55					0	0	1	0	0	C	35008834	T	C	35008834	3	2	257	1	0	0	0	0	1	0	0	0	4877	1464	51	3	880	3	EAPP	14	35008834	Missense_Mutation	SNP	T	TCGA-HT-A61B-01A-11D-A29Q-08		35008834	72340706	41	11261											
INF2	64423	broad.mit.edu	37	chr14	105174270	105174271	+	Frame_Shift_Ins	INS	-	-	G																															atgggtccccagccatcggcINSgggtgaacccacccacactg																										TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr14:105174270_105174271insG	uc001ypb.2	+	7	1809_1810	c.1666_1667insG	c.(1666-1668)cggfs	p.R556fs	INF2_uc001ypc.2_Frame_Shift_Ins_p.R556fs|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	556	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	Rho GTPase binding|actin binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CAGCCATCGGCGGGTGAACCCA	0.663													11	127	---	---	---	---						G	105174271	-	G	105174270	7	5	257	1	0	1	1	0	0	0	0	0	7734	759	27	0	1696	0	INF2	14	105174270	Frame_Shift_Ins	INS	-	TCGA-HT-A61B-01A-11D-A29Q-08	70165436	105174270	2175270	42	11262											
GSPT1	2935	broad.mit.edu	37	chr16	11981588	11981589	+	Frame_Shift_Ins	INS	-	-	T																															cgttcttcctgatttgtgtcINStaaggcccaagacaagtacc																										TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr16:11981588_11981589insT	uc010bux.3	-	6	1064_1065	c.381_382insA	c.(379-384)ttagacfs	p.L127fs	GSPT1_uc002dbu.3_Frame_Shift_Ins_p.L264fs|GSPT1_uc002dbt.3_Frame_Shift_Ins_p.L265fs	NM_001130007	NP_001123479	P15170	ERF3A_HUMAN	Homo sapiens G1 to S phase transition 1 (GSPT1), transcript variant 3, mRNA.	127					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						TGATTTGTGTCTAAGGCCCAAG	0.356													33	100	---	---	---	---						T	11981589	-	T	11981588	7	5	257	1	0	1	1	0	0	0	0	0	6826	913	32	0	1153	0	GSPT1	16	11981588	Frame_Shift_Ins	INS	-	TCGA-HT-A61B-01A-11D-A29Q-08		11981588	78373165	43	11263											
SRCAP	10847	broad.mit.edu	37	chr16	30736149	30736149	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctaccctgggcccggccGcagctcagaccttggcgctg	4	8	12	17	3	1	1	1	0	0	1	2	1	2	1	5	3	2	3	5	3	1	3			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr16:30736149G>A	uc002dze.1	+	24	5789	c.5404G>A	c.(5404-5406)Gca>Aca	p.A1802T	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.A1597T	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1802	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			gggcccggccgcagctcagac	0.637													4	72					0	0	1	0	0	A	30736149	G	A	30736149	3	1	257	1	0	0	0	0	1	0	0	0	15134	1087	38	1	5494	1	SRCAP	16	30736149	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	18754561	30736149	59618604	44	11264											
SPG7	6687	broad.mit.edu	37	chr16	89620236	89620236	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgaggaaggtcacccgcatCgcctactccatggtgaagca	10	7	11	13	2	1	2	1	2	0	0	3	3	2	3	3	3	2	2	3	3	3	1	rs140356355		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr16:89620236C>T	uc002fnj.3	+	14	1992	c.1971C>T	c.(1969-1971)atC>atT	p.I657I	SPG7_uc002fnl.3_Silent_p.I66I	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	Homo sapiens spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	657					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		TCACCCGCATCGCCTACTCCA	0.677													34	115					0	0	1	0	0	T	89620236	C	T	89620236	2	4	257	1	0	0	0	0	0	0	0	1	15043	874	31	2		2	SPG7	16	89620236	Silent	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	58884087	89620236	734517	45	11265											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	11	6	9	15	1	2	1	2	0	0	1	2	1	2	1	4	3	0	2	4	3	2	2	rs121912666		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr17:7578190T>C	uc002gim.2	-	5	853	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.3_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.2_Missense_Mutation_p.Y181C|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	220	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y220C(516)|p.Y127C(24)|p.Y220S(22)|p.Y220N(12)|p.Y220H(11)|p.?(11)|p.0?(8)|p.P219S(4)|p.P219P(4)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(3)|p.P219L(3)|p.Y220_P223delYEPP(2)|p.V218_Y220delVPY(2)|p.V216_Y220delVVVPY(2)|p.P219T(2)|p.Y220fs*25(2)|p.V218_E221delVPYE(2)|p.Y220fs*2(2)|p.V218_E224delVPYEPPE(2)|p.K164_P219del(1)|p.Y220L(1)|p.Y220fs*1(1)|p.Y127S(1)|p.V218_P219insX(1)|p.D208fs*1(1)|p.P219R(1)|p.P219C(1)|p.P219H(1)|p.V218fs*26(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)		AGGCGGCTCATAGGGCACCAC	0.557		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)			45	5					0	0	1	0	0	C	7578190	T	C	7578190	3	2	257	1	0	0	0	0	1	0	0	0	16378	1406	49	3	635	3	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-HT-A61B-01A-11D-A29Q-08		7578190	73617020	46	11266											
ELP2	55250	broad.mit.edu	37	chr18	33738840	33738840	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagccactgtccctgcattgGgattatcaaataaagctgtc	11	11	9	10	0	1	0	1	0	0	0	3	2	2	1	2	1	3	2	2	1	4	3			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr18:33738840G>T	uc010xcg.2	+	14	1762	c.1702G>T	c.(1702-1704)Gga>Tga	p.G568*	ELP2_uc002kzk.2_Nonsense_Mutation_p.G503*|ELP2_uc002kzl.2_Non-coding_Transcript|ELP2_uc002kzm.2_Nonsense_Mutation_p.G477*|ELP2_uc010xch.2_Nonsense_Mutation_p.G498*|ELP2_uc002kzn.2_Nonsense_Mutation_p.G433*|ELP2_uc002kzo.2_Nonsense_Mutation_p.G433*	NM_001242875	NP_001229804	Q6IA86	ELP2_HUMAN	Homo sapiens elongation protein 2 homolog (S. cerevisiae) (ELP2), transcript variant 1, mRNA.	503					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						CCCTGCATTGGGATTATCAAA	0.333													23	20					9.80776e-20	1.04207e-19	1	1	0	T	33738840	G	T	33738840	4	4	257	1	0	0	0	0	0	1	0	0	5080	1233	43	5	1561	5	ELP2	18	33738840	Nonsense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08		33738840	44338408	47	11267											
ZNF560	147741	broad.mit.edu	37	chr19	9577986	9577986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctttaccacatttcttaCattgatagagtctctcttct	10	17	4	10	0	4	2	0	1	4	1	5	2	4	2	1	0	3	1	1	0	4	7			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr19:9577986C>T	uc002mlp.1	-	9	1847	c.1637G>A	c.(1636-1638)tGt>tAt	p.C546Y	ZNF560_uc010dwr.1_Missense_Mutation_p.C440Y	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	546					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ACATTTCTTACATTGATAGAG	0.398													58	72					0	0	1	0	0	T	9577986	C	T	9577986	3	4	257	1	0	0	0	0	1	0	0	0	17988	478	17	3	739	3	ZNF560	19	9577986	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08		9577986	49550997	48	11268											
IL12RB1	3594	broad.mit.edu	37	chr19	18184406	18184406	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcacctgaggctgtggggggTtttctgcaatcagaaccaaa	10	10	12	9	0	3	2	2	1	1	1	3	2	3	2	2	4	2	3	2	4	3	2			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr19:18184406T>G	uc002nhx.1	-	8	875	c.824A>C	c.(823-825)aAc>aCc	p.N275T	IL12RB1_uc002nhw.1_Missense_Mutation_p.N235T|IL12RB1_uc010xqb.1_Missense_Mutation_p.N235T|IL12RB1_uc002nhy.3_Missense_Mutation_p.N235T	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	235	Fibronectin type-III 3.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CTGTGGGGGGTTTTCTGCAAT	0.512													7	28					0	0	1	0	0	G	18184406	T	G	18184406	3	3	257	1	0	0	0	0	1	0	0	0	7626	1725	60	5	1453	5	IL12RB1	19	18184406	Missense_Mutation	SNP	T	TCGA-HT-A61B-01A-11D-A29Q-08	8606420	18184406	40944577	49	11269											
ATP4A	495	broad.mit.edu	37	chr19	36049963	36049963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagatgggacacagtcatgCggttctgagtgagagtccct	10	9	13	9	1	2	3	1	2	1	2	3	5	3	4	1	2	1	1	1	2	0	1			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr19:36049963C>T	uc002oal.1	-	7	1216	c.1187G>A	c.(1186-1188)cGc>cAc	p.R396H	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	396					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CACAGTCATGCGGTTCTGAGT	0.592													5	244					0	0	1	0	0	T	36049963	C	T	36049963	3	4	257	1	0	0	0	0	1	0	0	0	1145	768	27	1	1980	1	ATP4A	19	36049963	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	17865557	36049963	23079020	50	11270											
KIR2DL1	3802	broad.mit.edu	37	chr19	55255285	55255285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcccagccgggccccaCggttctggcaggagagagcg	7	4	15	15	3	2	1	1	0	1	1	2	3	2	2	4	4	3	2	4	4	0	1			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr19:55255285C>T	uc002qgx.3	+	3	450	c.413C>T	c.(412-414)aCg>aTg	p.T138M	KIR2DL1_uc010erw.1_Missense_Mutation_p.T138M|KIR2DL1_uc002qgz.1_Missense_Mutation_p.T48M|KIR2DL1_uc002qha.1_Intron	NM_015868	NP_056952	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 (KIR2DL3), mRNA.	138					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	p.T138T(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CCGGGCCCCACGGTTCTGGCA	0.567													30	13					0	0	1	0	0	T	55255285	C	T	55255285	3	4	257	1	0	0	0	0	1	0	0	0	8316	536	19	1		1	KIR2DL1	19	55255285	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	19205322	55255285	3873698	51	11271											
AMMECR1	9949	broad.mit.edu	37	chrX	109561058	109561060	+	In_Frame_Del	DEL	CCG	CCG	-																															gtggcgacagggcgatccccCcgccgccgccgccgcagccc																										TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chrX:109561058_109561060delCCG	uc004eoo.3	-	0	321_323	c.240_242delCGG	c.(238-243)ggcggg>ggg	p.80_81GG>G	AMMECR1_uc004eop.3_In_Frame_Del_p.80_81GG>G|AMMECR1_uc004eoq.3_5'UTR	NM_015365	NP_001165160	Q9Y4X0	AMER1_HUMAN	Homo sapiens Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 (AMMECR1), transcript variant 1, mRNA.	80	Gly/Ser-rich.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GGCGATCCCCCCGCCGCCGCCGC	0.734													2	4	---	---	---	---						-	109561060	CCG	-	109561058	7	5	257	1	0	1	0	1	0	0	0	0	578	623	22	0	783	0	AMMECR1	23	109561058	In_Frame_Del	DEL	CCG	TCGA-HT-A61B-01A-11D-A29Q-08		109561058	45709502	52	11272											
CUL4B	8450	broad.mit.edu	37	chrX	119694140	119694140	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaggattcCtcagccatcttcgcatcaaa	12	7	13	9	1	3	0	2	0	1	0	5	6	4	5	2	5	1	1	2	5	1	2			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chrX:119694140C>G	uc004esw.3	-	2	845	c.408G>C	c.(406-408)gaG>gaC	p.E136D	CUL4B_uc004esv.3_Missense_Mutation_p.E118D	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	Homo sapiens cullin 4B (CUL4B), transcript variant 1, mRNA.	136	Ser-rich.				DNA repair|cell cycle|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						aggaggaTTCCTCAGCCATCT	0.488													10	32					0	0	1	0	0	G	119694140	C	G	119694140	3	3	257	1	0	0	0	0	1	0	0	0	4058	680	24	5	2413	5	CUL4B	23	119694140	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	10133082	119694140	35576420	53	11273											
LOC440563	440563	broad.mit.edu	37	chr1	13183258	13183258	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttgtttgctctgttccttTtcaattttttccaggttttc	3	24	5	9	0	3	0	1	0	2	0	6	0	5	0	2	1	1	4	2	1	1	10			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr1:13183258T>C	uc010obg.2	-	1	858	c.615A>G	c.(613-615)gaA>gaG	p.E205E		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	205						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										TCTGTTCCTTTTCAATTTTTT	0.428													4	131					0	0	1	0	0	C	13183258	T	C	13183258	2	2	258	1	0	0	0	0	0	0	0	1	8879	1838	64	3		3	LOC440563	1	13183258	Silent	SNP	T	TCGA-HT-A61C-01A-11D-A29Q-08		13183258	236067363	1	11274											
AIM1L	55057	broad.mit.edu	37	chr1	26672505	26672505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaccactggcggcaccatgCgggagacctgacggccccgt	7	4	13	17	4	0	2	0	1	0	1	0	3	0	2	6	4	1	1	6	4	0	0			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr1:26672505C>T	uc001bmd.4	-	1	794	c.644G>A	c.(643-645)cGc>cAc	p.R215H		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	0							sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CGGCACCATGCGGGAGACCTG	0.682													4	15					0	0	1	0	0	T	26672505	C	T	26672505	3	4	258	1	0	0	0	0	1	0	0	0	431	783	27	1		1	AIM1L	1	26672505	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	13489247	26672505	222578116	2	11275											
IGFN1	91156	broad.mit.edu	37	chr1	201186507	201186507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctcggggccccggcagcGcccacatcctgggctacctg	5	5	12	19	3	0	0	0	0	0	0	2	0	1	0	6	4	2	2	6	4	1	1	rs146376343		TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr1:201186507G>A	uc001gwc.3	+	16	9818	c.9688G>A	c.(9688-9690)Gcc>Acc	p.A3230T	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCCCGGCAGCGCCCACATCCT	0.662													71	83					0	0	1	0	0	A	201186507	G	A	201186507	3	1	258	1	0	0	0	0	1	0	0	0	7590	1087	38	1	9750	1	IGFN1	1	201186507	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	174514002	201186507	48064114	3	11276											
CR2	1380	broad.mit.edu	37	chr1	207640156	207640156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacatggtgattctgtgaCatttgcctgtaaaaccaact	12	12	8	9	0	1	3	0	2	1	1	1	3	1	3	2	1	3	1	2	1	3	3			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr1:207640156C>T	uc001hfw.3	+	1	463	c.344C>T	c.(343-345)aCa>aTa	p.T115I	CR2_uc001hfv.3_Missense_Mutation_p.T115I|CR2_uc009xch.3_Missense_Mutation_p.T115I	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	115	Sushi 2.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GATTCTGTGACATTTGCCTGT	0.423													25	52					0	0	1	0	0	T	207640156	C	T	207640156	3	4	258	1	0	0	0	0	1	0	0	0	3842	478	17	3	350	3	CR2	1	207640156	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	6453649	207640156	41610465	4	11277											
EXOC8	149371	broad.mit.edu	37	chr1	231472849	231472851	+	In_Frame_Del	DEL	CCA	CCA	-																															ccgctgaggcagccaggtagCcaccaacaagcaatcgttca																								rs142526535		TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr1:231472849_231472851delCCA	uc001huq.3	-	0	728_730	c.641_643delTGG	c.(640-645)gtggct>gct	p.V214del		NM_175876	NP_787072	Q8IYI6	EXOC8_HUMAN	Homo sapiens exocyst complex component 8 (EXOC8), mRNA.	214	PH.				exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				AGCCAGGTAGCCACCAACAAGCA	0.547													43	73	---	---	---	---						-	231472851	CCA	-	231472849	7	5	258	1	0	1	0	1	0	0	0	0	5311	739	26	0	1538	0	EXOC8	1	231472849	In_Frame_Del	DEL	CCA	TCGA-HT-A61C-01A-11D-A29Q-08	23832693	231472849	17777772	5	11278											
HEATR5B	54497	broad.mit.edu	37	chr2	37289163	37289163	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctattttgggcagcagttcGtaaaagatcttcagcaatac	12	12	9	8	1	2	1	1	0	1	1	3	1	2	1	0	1	3	6	0	1	5	7			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr2:37289163G>A	uc002rpp.1	-	10	1711	c.1615C>T	c.(1615-1617)Cga>Tga	p.R539*		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	539							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GCAGCAGTTCGTAAAAGATCT	0.348													30	51					0	0	1	0	0	A	37289163	G	A	37289163	4	1	258	1	0	0	0	0	0	1	0	0	7032	1153	40	1	4704	1	HEATR5B	2	37289163	Nonsense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08		37289163	205910210	6	11279											
SPRED2	200734	broad.mit.edu	37	chr2	65541089	65541089	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaagtctgaggagtccacgTaggggtagttgtagtcatgc	10	10	14	7	1	2	1	1	1	1	0	3	2	3	2	1	3	1	4	1	3	4	4			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr2:65541089T>G	uc002sdr.4	-	5	1338	c.803A>C	c.(802-804)tAc>tCc	p.Y268S	SPRED2_uc010fcw.3_Missense_Mutation_p.Y265S	NM_181784	NP_861449	Q7Z698	SPRE2_HUMAN	Homo sapiens sprouty-related, EVH1 domain containing 2 (SPRED2), transcript variant 1, mRNA.	268					inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						GGAGTCCACGTAGGGGTAGTT	0.677													55	96					0	0	1	0	0	G	65541089	T	G	65541089	3	3	258	1	0	0	0	0	1	0	0	0	15092	1638	57	5	457	5	SPRED2	2	65541089	Missense_Mutation	SNP	T	TCGA-HT-A61C-01A-11D-A29Q-08	28251926	65541089	177658284	7	11280											
MYO7B	4648	broad.mit.edu	37	chr2	128384765	128384765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcctggccaggcccccGcctgcccaagacgcagctga	6	6	10	19	2	1	2	0	1	1	1	3	2	2	2	6	2	2	2	6	2	1	0			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr2:128384765G>A	uc002top.3	+	31	4315	c.4262G>A	c.(4261-4263)cGc>cAc	p.R1421H	MYO7B_uc002tor.1_Missense_Mutation_p.R274H	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	1421	FERM 1.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCAGGCCCCCGCCTGCCCAAG	0.617													6	13					0	0	1	0	0	A	128384765	G	A	128384765	3	1	258	1	0	0	0	0	1	0	0	0	10083	1087	38	1	4384	1	MYO7B	2	128384765	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	62843676	128384765	114814608	8	11281											
TTN	7273	broad.mit.edu	37	chr2	179468882	179468882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcattgatcctttggtgcGtgccaaaacttttggttttc	7	17	9	8	1	0	1	0	1	0	0	2	1	1	1	2	2	4	2	2	2	3	7			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr2:179468882G>A	uc021vsy.1	-	230	47053	c.46828C>T	c.(46828-46830)Cgc>Tgc	p.R15610C	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R9305C|TTN_uc021vta.1_Missense_Mutation_p.R9238C|TTN_uc021vtb.1_Missense_Mutation_p.R9113C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16537	Ig-like 98.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R9113C(1)|p.R9238C(1)|p.R9305C(1)|p.R15610C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTTGGTGCGTGCCAAAACT	0.453													47	80					0	0	1	0	0	A	179468882	G	A	179468882	3	1	258	1	0	0	0	0	1	0	0	0	16732	1145	40	1	53485	1	TTN	2	179468882	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	51084117	179468882	63730491	9	11282											
COL3A1	1281	broad.mit.edu	37	chr2	189873767	189873767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggaggtgaaaaagctggcGgttttgccccgtattatgga	9	12	14	6	2	0	1	0	1	0	0	0	3	0	3	2	5	2	3	2	5	4	5			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr2:189873767G>A	uc002uqj.1	+	47	3760	c.3643G>A	c.(3643-3645)Ggt>Agt	p.G1215S		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	1215					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AAAAGCTGGCGGTTTTGCCCC	0.507													4	110					0	0	1	0	0	A	189873767	G	A	189873767	3	1	258	1	0	0	0	0	1	0	0	0	3688	1116	39	2	3833	2	COL3A1	2	189873767	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	10404885	189873767	53325606	10	11283											
NAB1	4664	broad.mit.edu	37	chr2	191537858	191537858	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagaaagagatgaattatccCcaaagagaattaaagtggag	19	7	11	4	0	0	4	0	1	0	3	1	8	1	5	2	1	0	0	2	1	7	2			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr2:191537858C>G	uc002usb.3	+	5	1557	c.985C>G	c.(985-987)Cca>Gca	p.P329A	NAB1_uc010fsc.3_Missense_Mutation_p.P329A|NAB1_uc010fsd.3_Missense_Mutation_p.P329A|NAB1_uc002usc.3_Missense_Mutation_p.P329A|NAB1_uc010zgh.2_Missense_Mutation_p.P329A	NM_005966	NP_005957	Q13506	NAB1_HUMAN	Homo sapiens NGFI-A binding protein 1 (EGR1 binding protein 1) (NAB1), mRNA.	329	Necessary for nuclear localization (By similarity).				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			TGAATTATCCCCAAAGAGAAT	0.318													10	22					0	0	1	0	0	G	191537858	C	G	191537858	3	3	258	1	0	0	0	0	1	0	0	0	10131	623	22	5	995	5	NAB1	2	191537858	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	1664091	191537858	51661515	11	11284											
TRANK1	9881	broad.mit.edu	37	chr3	36875111	36875111	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccagcagacatgaggccTggaagtccttgtcggcagtg	8	7	13	13	1	0	2	0	1	0	1	2	3	1	3	4	3	1	2	4	3	1	1			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr3:36875111T>C	uc003cgj.3	-	20	6079	c.5831A>G	c.(5830-5832)cAg>cGg	p.Q1944R		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1944					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACATGAGGCCTGGAAGTCCTT	0.572													12	22					0	0	1	0	0	C	36875111	T	C	36875111	3	2	258	1	0	0	0	0	1	0	0	0	16451	1580	55	4	2958	4	TRANK1	3	36875111	Missense_Mutation	SNP	T	TCGA-HT-A61C-01A-11D-A29Q-08		36875111	161147319	12	11285											
KCNMB2	10242	broad.mit.edu	37	chr3	178543531	178543531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgggaatcacactcctgcGctcatacatgcagaggtaat	11	9	10	11	1	2	1	2	0	0	1	3	2	3	2	1	2	3	4	1	2	3	2			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr3:178543531G>A	uc003fjd.3	+	2	555	c.212G>A	c.(211-213)cGc>cAc	p.R71H	AF279780_uc003fjb.1_Intron|AF279780_uc003fjc.1_Intron|KCNMB2_uc003fje.3_Missense_Mutation_p.R71H|KCNMB2_uc003fjf.3_Missense_Mutation_p.R71H|KCNMB2_uc011bqa.2_Intron|KCNMB2_uc011bqb.2_Intron	NM_181361	NP_852006	Q9Y691	KCMB2_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 2 (KCNMB2), transcript variant 1, mRNA.	71					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			ACACTCCTGCGCTCATACATG	0.532													74	120					0	0	1	0	0	A	178543531	G	A	178543531	3	1	258	1	0	0	0	0	1	0	0	0	8075	1087	38	1	218	1	KCNMB2	3	178543531	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	141668420	178543531	19478899	13	11286											
SLIT2	9353	broad.mit.edu	37	chr4	20525656	20525659	+	Frame_Shift_Del	DEL	TTTA	TTTA	-																															ggcatttggcccagaaccccTttatttgtgactgccatctc																										TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:20525656_20525659delTTTA	uc003gpr.1	+	13	1498_1501	c.1294_1297delTTTA	c.(1294-1299)tttattfs	p.F432fs	SLIT2_uc003gps.1_Frame_Shift_Del_p.F432fs	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	432	LRRCT 2.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding	p.P431L(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CCAGAACCCCTTTATTTGTGACTG	0.485													59	111	---	---	---	---						-	20525659	TTTA	-	20525656	7	5	258	1	0	1	0	1	0	0	0	0	14740	1609	56	0	1348	0	SLIT2	4	20525656	Frame_Shift_Del	DEL	TTTA	TCGA-HT-A61C-01A-11D-A29Q-08		20525656	170628620	14	11287											
RFC1	5981	broad.mit.edu	37	chr4	39325012	39325014	+	In_Frame_Del	DEL	TCA	TCA	-																															ctaatgttctggcaaactctTcatcttcatgcaactgcctc																										TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:39325012_39325014delTCA	uc003gty.2	-	6	806_808	c.666_668delTGA	c.(664-669)gatgaa>gaa	p.D222del	RFC1_uc003gtx.2_In_Frame_Del_p.D222del|RFC1_uc003gtz.2_In_Frame_Del_p.D106del	NM_001204747	NP_001191676	P35251	RFC1_HUMAN	Homo sapiens replication factor C (activator 1) 1, 145kDa (RFC1), transcript variant 2, mRNA.	222					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGCAAACTCTTCATCTTCATGCA	0.379													16	36	---	---	---	---						-	39325014	TCA	-	39325012	7	5	258	1	0	1	0	1	0	0	0	0	13244	1783	62	0	2851	0	RFC1	4	39325012	In_Frame_Del	DEL	TCA	TCGA-HT-A61C-01A-11D-A29Q-08	18799356	39325012	151829264	15	11288											
UGT2B11	10720	broad.mit.edu	37	chr4	70070287	70070287	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaaaacaatggaatgcccaCcatagggatcccatggtaga	17	6	9	9	0	0	1	0	0	0	1	1	3	1	3	3	3	2	1	3	3	7	2	rs113129893		TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:70070287C>A	uc003heh.3	-	4	1180	c.1171G>T	c.(1171-1173)Gtg>Ttg	p.V391L	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	391					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GGAATGCCCACCATAGGGATC	0.428													13	136					6.72482e-11	7.18074e-11	1	1	0	A	70070287	C	A	70070287	3	1	258	1	0	0	0	0	1	0	0	0	16954	507	18	5	426	5	UGT2B11	4	70070287	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	30745275	70070287	121083989	16	11289											
PROL1	58503	broad.mit.edu	37	chr4	71275670	71275670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatactactcaaattctcGccaaccgtcctcacacagta	15	9	3	14	2	3	0	2	0	1	0	5	0	4	0	3	0	3	1	3	0	7	4			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:71275670G>A	uc003hfi.3	+	2	799	c.625G>A	c.(625-627)Gcc>Acc	p.A209T		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	209	Thr-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	p.A209V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TCAAATTCTCGCCAACCGTCC	0.463													39	87					0	0	1	0	0	A	71275670	G	A	71275670	3	1	258	1	0	0	0	0	1	0	0	0	12554	1087	38	1	631	1	PROL1	4	71275670	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	1205383	71275670	119878606	17	11290											
PARM1	25849	broad.mit.edu	37	chr4	75938016	75938016	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctacactgtcgcagtccgCtgctgagcctcccacactca	8	8	8	17	2	1	1	1	1	0	0	4	1	3	1	3	0	4	4	3	0	1	1			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:75938016C>A	uc003hih.2	+	1	678	c.425C>A	c.(424-426)gCt>gAt	p.A142D		NM_015393	NP_056208	Q6UWI2	PARM1_HUMAN	Homo sapiens prostate androgen-regulated mucin-like protein 1 (PARM1), mRNA.	142					positive regulation of telomerase activity	Golgi membrane|early endosome|endosome membrane|integral to membrane|late endosome|plasma membrane		p.A142T(1)		cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						TCGCAGTCCGCTGCTGAGCCT	0.572													22	245					4.35082e-09	4.56836e-09	1	1	0	A	75938016	C	A	75938016	3	1	258	1	0	0	0	0	1	0	0	0	11452	797	28	5	431	5	PARM1	4	75938016	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	4662346	75938016	115216260	18	11291											
TRAM1L1	133022	broad.mit.edu	37	chr4	118006209	118006209	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgttaaacttgttttgtttcGctttggtgaactgcattctc	6	19	8	8	2	1	1	0	1	1	0	3	1	1	1	0	1	3	5	0	1	3	7			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:118006209G>A	uc003ibv.4	-	0	528	c.341C>T	c.(340-342)gCg>gTg	p.A114V		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA.	114					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		p.A114E(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GTTTTGTTTCGCTTTGGTGAA	0.373													12	31					0	0	1	0	0	A	118006209	G	A	118006209	3	1	258	1	0	0	0	0	1	0	0	0	16449	1087	38	1	772	1	TRAM1L1	4	118006209	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	42068193	118006209	73148067	19	11292											
TMEM184C	55751	broad.mit.edu	37	chr4	148555479	148555479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccaagggtttggacacaCtgtgactccccagactacac	11	8	8	14	0	0	2	0	1	0	1	1	3	1	3	3	2	2	1	3	2	3	3			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:148555479C>T	uc003ila.4	+	9	1780	c.1211C>T	c.(1210-1212)aCt>aTt	p.T404I		NM_018241	NP_060711	Q9NVA4	T184C_HUMAN	Homo sapiens transmembrane protein 184C (TMEM184C), mRNA.	404						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TTTGGACACACTGTGACTCCC	0.408													29	47					0	0	1	0	0	T	148555479	C	T	148555479	3	4	258	1	0	0	0	0	1	0	0	0	16103	565	20	3	1249	3	TMEM184C	4	148555479	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	30549270	148555479	42598797	20	11293											
ADAMTS19	171019	broad.mit.edu	37	chr5	129070795	129070795	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaataccataacatcaccCagactgggtaagcagacaaa	18	6	7	10	0	1	2	1	0	0	2	1	2	1	2	2	1	3	3	2	1	6	4			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr5:129070795C>G	uc003kvb.1	+	21	3465	c.3465C>G	c.(3463-3465)ccC>ccG	p.P1155P	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	1155					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TAACATCACCCAGACTGGGTA	0.338													21	44					0	0	1	0	0	G	129070795	C	G	129070795	2	3	258	1	0	0	0	0	0	0	0	1	264	581	21	5		5	ADAMTS19	5	129070795	Silent	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08		129070795	51844465	21	11294											
ANXA6	309	broad.mit.edu	37	chr5	150488109	150488109	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcttgatgaactcctggaAgactggccacaagagaagcc	13	7	10	11	0	1	4	0	2	1	2	2	6	2	5	3	2	2	0	3	2	4	1			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr5:150488109A>G	uc003ltl.2	-	22	1915	c.1687T>C	c.(1687-1689)Ttc>Ctc	p.F563L	ANXA6_uc011dcp.2_Missense_Mutation_p.F531L|ANXA6_uc003lto.2_Missense_Mutation_p.F150L	NM_001155	NP_001180473	P08133	ANXA6_HUMAN	Homo sapiens annexin A6 (ANXA6), transcript variant 1, mRNA.	563						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACTCCTGGAAGACTGGCCAC	0.582													64	105					0	0	1	0	0	G	150488109	A	G	150488109	3	3	258	1	0	0	0	0	1	0	0	0	722	72	3	4	350	4	ANXA6	5	150488109	Missense_Mutation	SNP	A	TCGA-HT-A61C-01A-11D-A29Q-08	21417314	150488109	30427151	22	11295											
EGFR	1956	broad.mit.edu	37	chr7	55221743	55221743	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaagccacgtgcaaggacAcctgccccccactcatgctc	10	5	8	18	2	1	0	1	0	0	0	2	2	1	1	5	1	4	2	5	1	2	0			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr7:55221743A>C	uc003tqk.3	+	6	1033	c.787A>C	c.(787-789)Acc>Ccc	p.T263P	EGFR_uc003tqh.3_Missense_Mutation_p.T263P|EGFR_uc003tqi.3_Missense_Mutation_p.T263P|EGFR_uc003tqj.3_Missense_Mutation_p.T263P|EGFR_uc022adm.1_Missense_Mutation_p.T263P|EGFR_uc010kzg.2_Missense_Mutation_p.T218P|EGFR_uc022adn.1_Missense_Mutation_p.T218P|EGFR_uc011kco.2_Missense_Mutation_p.T210P|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	263					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.T263P(8)|p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GTGCAAGGACACCTGCCCCCC	0.577		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			38	119					0	0	1	0	0	C	55221743	A	C	55221743	3	2	258	1	0	0	0	0	1	0	0	0	4967	159	6	5	813	5	EGFR	7	55221743	Missense_Mutation	SNP	A	TCGA-HT-A61C-01A-11D-A29Q-08		55221743	103916920	23	11296											
MET	4233	broad.mit.edu	37	chr7	116395440	116395440	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagtgcaccccttgaaggagGgacaaggctgaccatatgtg	11	8	13	9	0	0	2	0	2	0	0	0	4	0	4	3	3	1	2	3	3	4	3			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr7:116395440G>C	uc003vij.3	+	5	1920	c.1733G>C	c.(1732-1734)gGg>gCg	p.G578A	MET_uc022akk.1_Missense_Mutation_p.G578A|MET_uc010lkh.3_Missense_Mutation_p.G578A|MET_uc011knc.1_Missense_Mutation_p.G578A|MET_uc011knd.2_Missense_Mutation_p.G578A|MET_uc011knf.2_Missense_Mutation_p.G578A|MET_uc011kne.2_Missense_Mutation_p.G550A|MET_uc011kng.1_Missense_Mutation_p.G578A|MET_uc011knh.1_Missense_Mutation_p.G578A|MET_uc011kni.2_Missense_Mutation_p.G578A|MET_uc011knj.2_Missense_Mutation_p.G148A	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	578	IPT/TIG 1.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CTTGAAGGAGGGACAAGGCTG	0.368			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				434	995					0	0	1	0	0	C	116395440	G	C	116395440	3	2	258	1	0	0	0	0	1	0	0	0	9485	1232	43	5	1751	5	MET	7	116395440	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	61173697	116395440	42743223	24	11297											
MET	4233	broad.mit.edu	37	chr7	116412045	116412045	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgagctacttttccagaaggTatatttcagtttattgttct	9	18	7	7	1	2	1	1	0	1	1	3	2	3	1	1	1	2	4	1	1	5	10			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr7:116412045T>A	uc003vij.3	+	14	3215	c.3028_splice	c.e14+2	p.D1010_splice	MET_uc010lkh.3_Splice_Site_p.D1028_splice|MET_uc011knj.2_Splice_Site_p.D580_splice	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	1010		Breakpoint for translocation to form TPR- MET oncogene.			axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.?(3)|p.982_1028del47(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTCCAGAAGGTATATTTCAGT	0.343			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				29	847					0	0	1	0	0	A	116412045	T	A	116412045	5	1	258	1	0	0	0	0	0	0	1	0	9485	1652	57	5	3134	5	MET	7	116412045	Splice_Site	SNP	T	TCGA-HT-A61C-01A-11D-A29Q-08	16605	116412045	42726618	25	11298											
KCND2	3751	broad.mit.edu	37	chr7	120381623	120381623	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggatccgggcagccaaaagCggaagcgcaaatgcttacat	14	5	12	10	3	0	0	0	0	0	0	1	2	1	2	2	3	5	3	2	3	5	1			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr7:120381623C>G	uc003vjj.1	+	2	2279	c.1314C>G	c.(1312-1314)agC>agG	p.S438R		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	438					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CAGCCAAAAGCGGAAGCGCAA	0.373													14	52					0	0	1	0	0	G	120381623	C	G	120381623	3	3	258	1	0	0	0	0	1	0	0	0	8019	767	27	5	1324	5	KCND2	7	120381623	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	3969578	120381623	38757040	26	11299											
FSCN3	29999	broad.mit.edu	37	chr7	127240253	127240253	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcttccttctccagcacagGggggatccttctggtcaata	7	12	9	13	0	4	0	1	0	3	0	7	1	6	1	3	4	1	1	3	4	2	4			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr7:127240253G>C	uc003vmd.2	+	5	1516	c.1297G>C	c.(1297-1299)Ggg>Cgg	p.G433R	FSCN3_uc011koh.1_Splice_Site_p.G297_splice|FSCN3_uc010llc.2_Splice_Site_p.G431_splice	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	Homo sapiens fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (FSCN3), mRNA.	433						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TCCAGCACAGGGGGGATCCTT	0.572													18	70					0	0	1	0	0	C	127240253	G	C	127240253	3	2	258	1	0	0	0	0	1	0	0	0	6069	1232	43	5	1319	5	FSCN3	7	127240253	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	6858630	127240253	31898410	27	11300											
GFRA2	2675	broad.mit.edu	37	chr8	21608324	21608324	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggttgcagcgctcggtgggCgagatctcgcggttgcagat	5	9	17	10	6	1	2	0	0	1	2	3	3	1	2	0	4	3	5	0	4	0	2			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr8:21608324C>T	uc003wzu.1	-	3	1245	c.570G>A	c.(568-570)tcG>tcA	p.S190S	GFRA2_uc003wzv.1_Silent_p.S85S|GFRA2_uc003wzw.1_Silent_p.S57S|DOK2_uc003wzx.1_Intron	NM_001495	NP_001486	O00451	GFRA2_HUMAN	Homo sapiens GDNF family receptor alpha 2 (GFRA2), transcript variant 1, mRNA.	190						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GCTCGGTGGGCGAGATCTCGC	0.607													36	52					0	0	1	0	0	T	21608324	C	T	21608324	2	4	258	1	0	0	0	0	0	0	0	1	6348	755	27	1		1	GFRA2	8	21608324	Silent	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08		21608324	124755698	28	11301											
ASPH	444	broad.mit.edu	37	chr8	62556552	62556552	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccatatcctgattacagtCttgtgaaactataaattatg	13	16	5	7	0	1	2	0	2	1	0	3	2	3	2	2	0	2	0	2	0	7	7			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr8:62556552C>A	uc003xuj.3	-	7	930	c.661G>T	c.(661-663)Gac>Tac	p.D221Y	ASPH_uc011leg.2_Missense_Mutation_p.D192Y|ASPH_uc003xuo.2_Intron|ASPH_uc003xul.3_Missense_Mutation_p.D207Y|ASPH_uc011lei.2_Missense_Mutation_p.D207Y|ASPH_uc011lej.2_Missense_Mutation_p.D164Y|ASPH_uc011leh.2_Intron|ASPH_uc003xum.3_Missense_Mutation_p.D221Y|ASPH_uc003xun.3_Missense_Mutation_p.D178Y|ASPH_uc011lek.2_Intron	NM_004318	NP_004309	Q12797	ASPH_HUMAN	Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant 1, mRNA.	221	Glu-rich.				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TGATTACAGTCTTGTGAAACT	0.318													5	14					0.014758	0.014996	1	1	0	A	62556552	C	A	62556552	3	1	258	1	0	0	0	0	1	0	0	0	1053	913	32	5	1699	5	ASPH	8	62556552	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	40948228	62556552	83807470	29	11302											
TMEM67	91147	broad.mit.edu	37	chr8	94828614	94828614	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttccagatttttagatatatCcgtaatacagtaggacaaaa	16	13	6	6	1	0	2	0	0	0	2	2	3	2	3	2	1	1	2	2	1	8	9			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr8:94828614C>T	uc011lgk.2	+	27	2993	c.2922C>T	c.(2920-2922)atC>atT	p.I974I	TMEM67_uc003yga.4_Silent_p.I893I|TMEM67_uc011lgl.2_Silent_p.I373I	NM_153704	NP_714915	Q5HYA8	MKS3_HUMAN	Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA.	974					ER-associated protein catabolic process|cilium assembly|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TTAGATATATCCGTAATACAG	0.259													8	23					0	0	1	0	0	T	94828614	C	T	94828614	2	4	258	1	0	0	0	0	0	0	0	1	16193	845	30	3		3	TMEM67	8	94828614	Silent	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	32272062	94828614	51535408	30	11303											
COL27A1	85301	broad.mit.edu	37	chr9	117005792	117005792	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctctctgttgcagggtcaGcctggcaggaaggggtttcc	5	11	15	10	0	3	0	1	0	2	0	5	1	4	1	2	5	2	4	2	5	1	2			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr9:117005792G>C	uc011lxl.2	+	22	2886	c.2886G>C	c.(2884-2886)caG>caC	p.Q962H	COL27A1_uc004bii.3_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	962	Collagen-like 6.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGCAGGGTCAGCCTGGCAGGA	0.627													15	22					0	0	1	0	0	C	117005792	G	C	117005792	3	2	258	1	0	0	0	0	1	0	0	0	3685	962	34	5	2976	5	COL27A1	9	117005792	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08		117005792	24207639	31	11304											
TRAF2	7186	broad.mit.edu	37	chr9	139815579	139815579	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagatggaggcatccacctaCgatggggtcttcatctggaa	10	9	13	9	1	3	1	1	0	2	1	4	5	4	3	2	5	1	1	2	5	2	2			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr9:139815579C>T	uc004cjv.3	+	8	1107	c.1050C>T	c.(1048-1050)taC>taT	p.Y350Y	TRAF2_uc010nbu.3_Silent_p.Y350Y|TRAF2_uc011mek.2_Silent_p.Y339Y|TRAF2_uc010nbw.3_Silent_p.Y325Y	NM_021138	NP_066961	Q12933	TRAF2_HUMAN	Homo sapiens TNF receptor-associated factor 2 (TRAF2), mRNA.	350				LEMEASTYDGVFIWKISDFARKR -> RPFQAQCGHRYCSF CLASILRKL (in Ref. 1; AAA87706).	activation of NF-kappaB-inducing kinase activity|activation of caspase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|protein K63-linked ubiquitination|protein autoubiquitination|protein homotrimerization|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		CATCCACCTACGATGGGGTCT	0.602													38	44					0	0	1	0	0	T	139815579	C	T	139815579	2	4	258	1	0	0	0	0	0	0	0	1	16435	547	19	1		1	TRAF2	9	139815579	Silent	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	22809787	139815579	1397852	32	11305											
OR56A4	120793	broad.mit.edu	37	chr11	6023641	6023641	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagctgattgaaagtgatGtcatcacaagagagtttgga	14	11	12	4	0	2	5	2	3	0	2	2	7	2	6	0	1	1	2	0	1	3	3			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr11:6023641G>A	uc010qzv.2	-	0	738	c.738C>T	c.(736-738)gaC>gaT	p.D246D		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAAAGTGATGTCATCACAAG	0.428													17	25					0	0	1	0	0	A	6023641	G	A	6023641	2	1	258	1	0	0	0	0	0	0	0	1	11135	1368	48	3		3	OR56A4	11	6023641	Silent	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08		6023641	128982875	33	11306											
LDHA	3939	broad.mit.edu	37	chr11	18424533	18424533	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cattaagctgtcatgggtggGtccttggggaacatggagat	9	11	15	6	0	1	1	1	0	0	1	2	3	2	2	1	5	2	1	1	5	2	2			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr11:18424533G>T	uc001mok.3	+	4	837	c.565G>T	c.(565-567)Gtc>Ttc	p.V189F	LDHA_uc009yho.2_Missense_Mutation_p.V16F|LDHA_uc001mol.3_Missense_Mutation_p.V189F|LDHA_uc010rdc.1_Missense_Mutation_p.V131F|LDHA_uc021qep.1_Missense_Mutation_p.V189F|LDHA_uc010rdd.2_Missense_Mutation_p.V218F	NM_005566	NP_005557	P00338	LDHA_HUMAN	Homo sapiens lactate dehydrogenase A (LDHA), transcript variant 1, mRNA.	189					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12					NADH(DB00157)	TCATGGGTGGGTCCTTGGGGA	0.408													4	76					0.000602214	0.000621959	1	1	0	T	18424533	G	T	18424533	3	4	258	1	0	0	0	0	1	0	0	0	8698	1261	44	5	670	5	LDHA	11	18424533	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	12400892	18424533	116581983	34	11307											
OR8K1	390157	broad.mit.edu	37	chr11	56113534	56113534	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaatcatgtggtaaaacAcaatcacacggcagtgacca	16	7	9	9	1	2	2	2	2	0	0	2	3	2	2	1	2	1	2	1	2	4	1			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr11:56113534A>T	uc010rjg.2	+	0	20	c.20A>T	c.(19-21)cAc>cTc	p.H7L		NM_001002907	NP_001002907	Q8NGG5	OR8K1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 1 (OR8K1), mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					GTGGTAAAACACAATCACACG	0.363										HNSCC(65;0.19)			16	33					0	0	1	0	0	T	56113534	A	T	56113534	3	4	258	1	0	0	0	0	1	0	0	0	11243	159	6	5	22	5	OR8K1	11	56113534	Missense_Mutation	SNP	A	TCGA-HT-A61C-01A-11D-A29Q-08	37689001	56113534	78892982	35	11308											
PGM2L1	283209	broad.mit.edu	37	chr11	74085469	74085469	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatacttacctgtgttgaCtgtattactgtaaggtcatt	11	17	7	6	0	1	1	1	1	0	0	1	1	1	1	1	1	3	3	1	1	6	8			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr11:74085469C>T	uc001ovb.1	-	1	566	c.270G>A	c.(268-270)caG>caA	p.Q90Q		NM_173582	NP_775853	Q6PCE3	PGM2L_HUMAN	Homo sapiens phosphoglucomutase 2-like 1 (PGM2L1), mRNA.	90					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					CCTGTGTTGACTGTATTACTG	0.463													11	19					0	0	1	0	0	T	74085469	C	T	74085469	2	4	258	1	0	0	0	0	0	0	0	1	11799	564	20	3		3	PGM2L1	11	74085469	Silent	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	17971935	74085469	60921047	36	11309											
CAPZA3	93661	broad.mit.edu	37	chr12	18891867	18891867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttaaccaagctcaactggCtctaagttttgcaaggcttg	11	12	9	9	0	2	0	1	0	1	0	2	0	2	0	1	2	4	6	1	2	5	5			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr12:18891867C>T	uc001rdy.3	+	0	823	c.665C>T	c.(664-666)gCt>gTt	p.A222V	PLCZ1_uc001rdv.4_5'Flank|PLCZ1_uc001rdw.4_5'Flank|PLCZ1_uc021qvx.1_5'Flank	NM_033328	NP_201585	Q96KX2	CAZA3_HUMAN	Homo sapiens capping protein (actin filament) muscle Z-line, alpha 3 (CAPZA3), mRNA.	222					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GCTCAACTGGCTCTAAGTTTT	0.393													10	26					0	0	1	0	0	T	18891867	C	T	18891867	3	4	258	1	0	0	0	0	1	0	0	0	2642	797	28	3	667	3	CAPZA3	12	18891867	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08		18891867	114960028	37	11310											
SLC15A4	121260	broad.mit.edu	37	chr12	129283824	129283824	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagtctgtgtgactgctcAtccatccgatggctttgata	9	13	9	10	1	2	2	1	2	1	0	4	3	4	2	2	1	1	2	2	1	2	2			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr12:129283824A>T	uc001uhu.2	-	6	1606	c.1553T>A	c.(1552-1554)aTg>aAg	p.M518K	SLC15A4_uc001uhv.2_Non-coding_Transcript	NM_145648	NP_663623	Q8N697	S15A4_HUMAN	Homo sapiens solute carrier family 15, member 4 (SLC15A4), mRNA.	518					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		GTGACTGCTCATCCATCCGAT	0.542													51	74					0	0	1	0	0	T	129283824	A	T	129283824	3	4	258	1	0	0	0	0	1	0	0	0	14401	217	8	5	188	5	SLC15A4	12	129283824	Missense_Mutation	SNP	A	TCGA-HT-A61C-01A-11D-A29Q-08	110391957	129283824	4568071	38	11311											
CHD8	57680	broad.mit.edu	37	chr14	21884050	21884050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttttcgcttaacttggCggtttgagcgtctcttctgt	4	20	9	8	3	2	1	0	1	2	0	4	1	2	1	0	2	2	2	0	2	1	7			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr14:21884050C>T	uc001war.2	-	4	1798	c.1733G>A	c.(1732-1734)cGc>cAc	p.R578H	CHD8_uc001was.2_Missense_Mutation_p.R299H	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	578					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding	p.R578H(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CTTAACTTGGCGGTTTGAGCG	0.378													26	25					0	0	1	0	0	T	21884050	C	T	21884050	3	4	258	1	0	0	0	0	1	0	0	0	3331	768	27	1	6144	1	CHD8	14	21884050	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08		21884050	85465490	39	11312											
EIF5	1983	broad.mit.edu	37	chr14	103802435	103802435	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggttgacgttgcaaaggcGcttaatcggcctccaacgtg	9	10	12	10	4	0	1	0	1	0	0	2	1	1	1	2	3	2	4	2	3	3	3			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr14:103802435G>A	uc001ymt.3	+	2	630	c.135G>A	c.(133-135)gcG>gcA	p.A45A	EIF5_uc001ymq.3_Silent_p.A45A|EIF5_uc001ymr.3_Silent_p.A45A|EIF5_uc001ymu.3_Silent_p.A45A|SNORA28_uc001ymv.1_5'Flank	NM_183004	NP_892116	P55010	IF5_HUMAN	Homo sapiens eukaryotic translation initiation factor 5 (EIF5), transcript variant 2, mRNA.	45					RNA metabolic process|regulation of translational initiation	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			TTGCAAAGGCGCTTAATCGGC	0.408													18	6					0	0	1	0	0	A	103802435	G	A	103802435	2	1	258	1	0	0	0	0	0	0	0	1	5040	1074	38	1		1	EIF5	14	103802435	Silent	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	81918385	103802435	3547105	40	11313											
RYR3	6263	broad.mit.edu	37	chr15	34150114	34150114	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgcgacgacatgatgaCggtgagagcccacccactgc	11	5	13	12	3	0	3	0	3	0	1	0	7	0	3	2	1	3	0	2	1	1	0			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr15:34150114C>T	uc001zhi.3	+	99	14212	c.14142_splice	c.e99+1	p.T4714_splice	RYR3_uc010bar.3_Splice_Site_p.T4709_splice	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	4714					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GACATGATGACGGTGAGAGCC	0.582													26	32					0	0	1	0	0	T	34150114	C	T	34150114	5	4	258	1	0	0	0	0	0	0	1	0	13770	550	19	1	14535	1	RYR3	15	34150114	Splice_Site	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08		34150114	68381278	41	11314											
PCSK6	5046	broad.mit.edu	37	chr15	101938646	101938646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgaaagcctgcttagccagtCggccgggcccgtccaccgtc	6	6	12	17	5	0	0	0	0	0	0	3	1	1	0	6	2	3	1	6	2	2	1			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr15:101938646C>T	uc002bxa.2	-	7	1270	c.956G>A	c.(955-957)cGa>cAa	p.R319Q	PCSK6_uc010bpd.3_Missense_Mutation_p.R190Q|PCSK6_uc002bwy.3_Missense_Mutation_p.R319Q|PCSK6_uc010bpe.3_Missense_Mutation_p.R316Q|PCSK6_uc002bxb.2_Missense_Mutation_p.R319Q|PCSK6_uc002bxc.1_Missense_Mutation_p.R319Q|PCSK6_uc002bxd.1_Missense_Mutation_p.R319Q|PCSK6_uc002bxe.3_Missense_Mutation_p.R319Q|PCSK6_uc002bxg.1_Missense_Mutation_p.R319Q	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	320	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTTAGCCAGTCGGCCGGGCCC	0.567													90	139					0	0	1	0	0	T	101938646	C	T	101938646	3	4	258	1	0	0	0	0	1	0	0	0	11604	884	31	2	2493	2	PCSK6	15	101938646	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	67788532	101938646	592746	42	11315											
MYH11	4629	broad.mit.edu	37	chr16	15870006	15870006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctcgtctctggcttggCgaattgcccgtgatttttct	3	17	9	12	3	3	1	0	1	3	0	6	2	4	1	2	2	1	1	2	2	1	4			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr16:15870006C>T	uc002ddx.3	-	8	946	c.839G>A	c.(838-840)cGc>cAc	p.R280H	MYH11_uc002ddv.3_Missense_Mutation_p.R280H|MYH11_uc002ddw.3_Missense_Mutation_p.R273H|MYH11_uc002ddy.3_Missense_Mutation_p.R273H|MYH11_uc010bvg.3_Missense_Mutation_p.R105H|MYH11_uc002dea.1_5'UTR	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	273	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle	p.T280R(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCTGGCTTGGCGAATTGCCCG	0.488			T	CBFB	AML								68	111					0	0	1	0	0	T	15870006	C	T	15870006	3	4	258	1	0	0	0	0	1	0	0	0	10031	768	27	1	5271	1	MYH11	16	15870006	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08		15870006	74484747	43	11316											
MYH2	4620	broad.mit.edu	37	chr17	10432347	10432347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcttctctgctttggccCgggaggcccgctctgcctcg	1	11	13	16	3	2	0	0	0	2	0	4	1	2	1	3	3	3	4	3	3	0	2	rs151164070		TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr17:10432347C>T	uc010coi.3	-	26	3532	c.3404G>A	c.(3403-3405)cGg>cAg	p.R1135Q	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R1135Q|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1135					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGCTTTGGCCCGGGAGGCCCG	0.592													36	69					0	0	1	0	0	T	10432347	C	T	10432347	3	4	258	1	0	0	0	0	1	0	0	0	10035	652	23	2	2477	2	MYH2	17	10432347	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08		10432347	70762863	44	11317											
MUC16	94025	broad.mit.edu	37	chr19	9076533	9076533	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagtgaccaggctggttccaAtgacagttatacggccatgg	10	9	13	9	1	0	2	0	2	0	0	1	3	1	2	3	4	1	3	3	4	3	3			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr19:9076533A>G	uc002mkp.3	-	2	11117	c.10913T>C	c.(10912-10914)aTt>aCt	p.I3638T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3639	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTGGTTCCAATGACAGTTAT	0.448													30	38					0	0	1	0	0	G	9076533	A	G	9076533	3	3	258	1	0	0	0	0	1	0	0	0	9973	101	4	3	32938	3	MUC16	19	9076533	Missense_Mutation	SNP	A	TCGA-HT-A61C-01A-11D-A29Q-08		9076533	50052450	45	11318											
CDC25B	994	broad.mit.edu	37	chr20	3782703	3782703	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgcagaataagcggaggCggagcgtgacccctcctgag	9	5	15	12	4	0	3	0	2	0	1	1	5	1	5	4	3	3	1	4	3	2	1			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr20:3782703C>T	uc002wjn.3	+	9	1832	c.1054C>T	c.(1054-1056)Cgg>Tgg	p.R352W	CDC25B_uc010zqk.2_Missense_Mutation_p.R288W|CDC25B_uc010zql.2_Missense_Mutation_p.R274W|CDC25B_uc010zqm.2_Missense_Mutation_p.R261W|CDC25B_uc002wjl.3_Missense_Mutation_p.R240W|CDC25B_uc002wjm.3_Missense_Mutation_p.R240W|CDC25B_uc021waa.1_Missense_Mutation_p.R199W|CDC25B_uc002wjo.3_Missense_Mutation_p.R338W|CDC25B_uc002wjp.3_Missense_Mutation_p.R311W|CDC25B_uc002wjq.3_Missense_Mutation_p.R152W	NM_021873	NP_068659	P30305	MPIP2_HUMAN	Homo sapiens cell division cycle 25 homolog B (S. pombe) (CDC25B), transcript variant 1, mRNA.	352					G2/M transition of mitotic cell cycle|cell division|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						TAAGCGGAGGCGGAGCGTGAC	0.657													7	9					0	0	1	0	0	T	3782703	C	T	3782703	3	4	258	1	0	0	0	0	1	0	0	0	3063	759	27	1	1092	1	CDC25B	20	3782703	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08		3782703	59242817	46	11319											
NAA20	51126	broad.mit.edu	37	chr20	19998065	19998065	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgctacgggcctttaccTgcgacgacctgttccgcttc	5	10	9	17	5	0	0	0	0	0	0	2	2	1	0	5	1	3	3	5	1	2	5			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr20:19998065T>A	uc002wrp.3	+	0	132	c.25T>A	c.(25-27)Tgc>Agc	p.C9S	NAA20_uc002wrq.3_Missense_Mutation_p.C9S|NAA20_uc002wrr.3_5'Flank	NM_016100	NP_057184	P61599	NAA20_HUMAN	Homo sapiens N(alpha)-acetyltransferase 20, NatB catalytic subunit (NAA20), transcript variant 1, mRNA.	9	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity			endometrium(3)|lung(2)|prostate(1)	6						GGCCTTTACCTGCGACGACCT	0.716													11	27					0	0	1	0	0	A	19998065	T	A	19998065	3	1	258	1	0	0	0	0	1	0	0	0	10120	1580	55	5	27	5	NAA20	20	19998065	Missense_Mutation	SNP	T	TCGA-HT-A61C-01A-11D-A29Q-08	16215362	19998065	43027455	47	11320											
SKI	6497	broad.mit.edu	37	chr1	2161050	2161050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcgactcggccaactggcGggcctacatcctgctgagcc	6	8	11	16	3	0	1	0	1	0	0	3	2	1	1	4	3	4	1	4	3	2	2			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr1:2161050G>A	uc001aja.4	+	0	917	c.845G>A	c.(844-846)cGg>cAg	p.R282Q		NM_003036	NP_003027	P12755	SKI_HUMAN	Homo sapiens v-ski sarcoma viral oncogene homolog (avian) (SKI), mRNA.	282					BMP signaling pathway|SMAD protein signal transduction|anterior/posterior axis specification|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of BMP signaling pathway|negative regulation of Schwann cell proliferation|negative regulation of activin receptor signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	PML body|cytoplasm|transcription factor complex|transcriptional repressor complex	SMAD binding|histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GCCAACTGGCGGGCCTACATC	0.642													5	12					0	0	1	0	0	A	2161050	G	A	2161050	3	1	259	1	0	0	0	0	1	0	0	0	14357	1116	39	2	847	2	SKI	1	2161050	Missense_Mutation	SNP	G	TCGA-HW-7486-01A-11D-2024-08		2161050	247089571	1	11321											
C1orf168	199920	broad.mit.edu	37	chr1	57185712	57185712	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttgaaatctagatgttcAatgagcacatatccatctaa	15	13	5	8	0	3	3	1	2	2	1	4	3	4	3	1	0	2	2	1	0	6	6			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr1:57185712A>G	uc001cym.4	-	18	2554	c.2148T>C	c.(2146-2148)atT>atC	p.I716I	C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	716										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CTAGATGTTCAATGAGCACAT	0.259													8	27					0	0	1	0	0	G	57185712	A	G	57185712	2	3	259	1	0	0	0	0	0	0	0	1	2012	126	5	3		3	C1orf168	1	57185712	Silent	SNP	A	TCGA-HW-7486-01A-11D-2024-08	55024662	57185712	192064909	2	11322											
SIX2	10736	broad.mit.edu	37	chr2	45236135	45236135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgaaggtgctcgcaggCgggcagcgaccacaggaagc	9	5	16	11	3	0	1	0	1	0	0	1	3	0	2	1	4	3	3	1	4	2	1			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr2:45236135C>T	uc002ruo.3	-	0	408	c.115G>A	c.(115-117)Gcc>Acc	p.A39T		NM_016932	NP_058628	Q9NPC8	SIX2_HUMAN	Homo sapiens SIX homeobox 2 (SIX2), mRNA.	39						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGCTCGCAGGCGGGCAGCGAC	0.647													3	22					0	0	1	0	0	T	45236135	C	T	45236135	3	4	259	1	0	0	0	0	1	0	0	0	14347	768	27	1	768	1	SIX2	2	45236135	Missense_Mutation	SNP	C	TCGA-HW-7486-01A-11D-2024-08		45236135	197963238	3	11323											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								10	51					0	0	1	0	0	T	209113112	C	T	209113112	3	4	259	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-7486-01A-11D-2024-08	163876977	209113112	34086261	4	11324											
XRCC5	7520	broad.mit.edu	37	chr2	216983868	216983868	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcatagcttgaagaaatgTgacatctccctgcaattctt	12	14	6	9	0	3	3	1	2	2	1	4	3	3	3	1	0	2	2	1	0	4	5			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr2:216983868T>C	uc002vfy.3	+	4	611	c.471T>C	c.(469-471)tgT>tgC	p.C157C	XRCC5_uc002vfz.3_Silent_p.C43C	NM_021141	NP_066964	P13010	XRCC5_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) (XRCC5), mRNA.	157	Leucine-zipper.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		TGAAGAAATGTGACATCTCCC	0.368								Non-homologous end-joining					3	31					0	0	1	0	0	C	216983868	T	C	216983868	2	2	259	1	0	0	0	0	0	0	0	1	17453	1702	59	3		3	XRCC5	2	216983868	Silent	SNP	T	TCGA-HW-7486-01A-11D-2024-08	7870756	216983868	26215505	5	11325											
GSK3B	2932	broad.mit.edu	37	chr3	119720905	119720905	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattttaccttaaatctcttGtcctgcaatactttcttgat	9	19	3	10	0	2	1	0	1	2	0	4	1	3	1	2	0	3	1	2	0	5	7			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr3:119720905G>A	uc003edo.3	-	1	1253	c.270C>T	c.(268-270)gaC>gaT	p.D90D	GSK3B_uc003edn.3_Silent_p.D90D	NM_001146156	NP_001139628	P49841	GSK3B_HUMAN	Homo sapiens glycogen synthase kinase 3 beta (GSK3B), transcript variant 2, mRNA.	90	Protein kinase.				ER overload response|axon guidance|epithelial to mesenchymal transition|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of Rac GTPase activity|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|NF-kappaB binding|RNA polymerase II transcription factor binding|beta-catenin binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin protein ligase binding			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	TAAATCTCTTGTCCTGCAATA	0.338													20	90					0	0	1	0	0	A	119720905	G	A	119720905	2	1	259	1	0	0	0	0	0	0	0	1	6824	1368	48	3		3	GSK3B	3	119720905	Silent	SNP	G	TCGA-HW-7486-01A-11D-2024-08		119720905	78301525	6	11326											
CASR	846	broad.mit.edu	37	chr3	122003579	122003579	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgaagacccattcccacaGcccgagaggcagaagcagca	14	2	11	14	2	0	3	0	0	0	3	1	5	1	3	3	1	4	3	3	1	2	1			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr3:122003579G>A	uc003eew.4	+	6	3246	c.2808G>A	c.(2806-2808)caG>caA	p.Q936Q	CASR_uc003eev.4_Silent_p.Q926Q	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	926					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CATTCCCACAGCCCGAGAGGC	0.647													8	37					0	0	1	0	0	A	122003579	G	A	122003579	2	1	259	1	0	0	0	0	0	0	0	1	2682	962	34	3		3	CASR	3	122003579	Silent	SNP	G	TCGA-HW-7486-01A-11D-2024-08	2282674	122003579	76018851	7	11327											
LRRC33	375387	broad.mit.edu	37	chr3	196386962	196386962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgacggaggacatggcaGccctcatgctccagaacctc	9	6	10	16	1	1	2	1	1	0	1	3	4	2	4	4	3	3	2	4	3	1	0			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr3:196386962G>A	uc003fwv.3	+	2	552	c.448G>A	c.(448-450)Gcc>Acc	p.A150T		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA.	150						integral to membrane				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3)	40	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		GGACATGGCAGCCCTCATGCT	0.662													7	18					0	0	1	0	0	A	196386962	G	A	196386962	3	1	259	1	0	0	0	0	1	0	0	0	8988	971	34	3	454	3	LRRC33	3	196386962	Missense_Mutation	SNP	G	TCGA-HW-7486-01A-11D-2024-08	74383383	196386962	1635468	8	11328											
TLR1	7096	broad.mit.edu	37	chr4	38799739	38799739	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttggatttgtttgaagtttCgccagaatacttaggaagta	11	16	10	4	1	0	2	0	1	0	1	1	4	0	4	1	2	1	3	1	2	6	7	rs146940675		TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr4:38799739C>T	uc003gtl.3	-	3	988	c.714G>A	c.(712-714)gcG>gcA	p.A238A	TLR1_uc021xnn.1_Silent_p.A238A	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	238					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTTGAAGTTTCGCCAGAATAC	0.343													4	47					0	0	1	0	0	T	38799739	C	T	38799739	2	4	259	1	0	0	0	0	0	0	0	1	15946	871	31	2		2	TLR1	4	38799739	Silent	SNP	C	TCGA-HW-7486-01A-11D-2024-08		38799739	152354537	9	11329											
RASA1	5921	broad.mit.edu	37	chr5	86675592	86675592	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaatgaagatgtgaacaCtaatttaacacacctattga	20	10	5	6	0	0	4	0	3	0	1	0	4	0	4	1	0	2	0	1	0	8	5			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr5:86675592C>A	uc003kiw.3	+	18	2727	c.2528C>A	c.(2527-2529)aCt>aAt	p.T843N	RASA1_uc010jav.3_Non-coding_Transcript|RASA1_uc003kix.3_Missense_Mutation_p.T666N|RASA1_uc011ctv.2_Missense_Mutation_p.T676N|RASA1_uc011ctw.2_Missense_Mutation_p.T677N|RASA1_uc010jaw.3_Missense_Mutation_p.T665N	NM_002890	NP_002881	P20936	RASA1_HUMAN	Homo sapiens RAS p21 protein activator (GTPase activating protein) 1 (RASA1), transcript variant 1, mRNA.	843	Ras-GAP.				cytokinesis|embryo development|intracellular signal transduction|negative regulation of Ras protein signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|regulation of RNA metabolic process|regulation of actin filament polymerization|regulation of cell shape|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	GTPase binding|Ras GTPase activator activity|glycoprotein binding|potassium channel inhibitor activity|receptor binding			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		GATGTGAACACTAATTTAACA	0.313													4	64					0.00024832	0.00024832	1	1	0	A	86675592	C	A	86675592	3	1	259	1	0	0	0	0	1	0	0	0	13060	565	20	5	2614	5	RASA1	5	86675592	Missense_Mutation	SNP	C	TCGA-HW-7486-01A-11D-2024-08		86675592	94239668	10	11330											
PCDHGC5	56097	broad.mit.edu	37	chr5	140869610	140869610	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccgcctcaatgccactgAtccagacgagggcaccaacg	10	5	10	16	3	1	2	1	1	0	1	3	3	3	2	5	1	2	2	5	1	2	0			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr5:140869610A>G	uc003lla.2	+	0	803	c.803A>G	c.(802-804)gAt>gGt	p.D268G	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc003lky.2_Intron|PCDHGC5_uc011dbc.2_Missense_Mutation_p.D268G	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 5 (PCDHGC5), transcript variant 1, mRNA.	268	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGCCACTGATCCAGACGAG	0.527													41	108					0	0	1	0	0	G	140869610	A	G	140869610	3	3	259	1	0	0	0	0	1	0	0	0	11571	333	12	3	805	3	PCDHGC5	5	140869610	Missense_Mutation	SNP	A	TCGA-HW-7486-01A-11D-2024-08	54194018	140869610	40045650	11	11331											
COL21A1	81578	broad.mit.edu	37	chr6	56044619	56044619	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctatcttagtcagaaatcGtgaggacttggcaaaaaggt	13	11	11	6	1	2	2	1	1	1	1	3	3	2	3	0	3	1	2	0	3	5	3			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr6:56044619G>A	uc003pcs.3	-	2	629	c.397C>T	c.(397-399)Cga>Tga	p.R133*	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Nonsense_Mutation_p.R133*|COL21A1_uc003pcu.1_Nonsense_Mutation_p.R133*	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	133	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.R133Q(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GTCAGAAATCGTGAGGACTTG	0.448													8	26					0	0	1	0	0	A	56044619	G	A	56044619	4	1	259	1	0	0	0	0	0	1	0	0	3680	1153	40	1	2588	1	COL21A1	6	56044619	Nonsense_Mutation	SNP	G	TCGA-HW-7486-01A-11D-2024-08		56044619	115070448	12	11332											
ALDH8A1	64577	broad.mit.edu	37	chr6	135239871	135239871	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgcagcaggattcatcCttaatgtctgttatcaccgt	9	14	8	10	1	4	0	3	0	1	0	5	1	5	1	2	1	2	3	2	1	2	3			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr6:135239871C>T	uc003qew.3	-	6	1215	c.1146G>A	c.(1144-1146)aaG>aaA	p.K382K	ALDH8A1_uc011ecx.2_Silent_p.K332K|ALDH8A1_uc003qex.3_Silent_p.K328K|ALDH8A1_uc010kgh.3_Silent_p.K160K	NM_022568	NP_072090	Q9H2A2	AL8A1_HUMAN	Homo sapiens aldehyde dehydrogenase 8 family, member A1 (ALDH8A1), transcript variant 1, mRNA.	382					retinal metabolic process	cytoplasm	retinal dehydrogenase activity	p.I381S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		AGGATTCATCCTTAATGTCTG	0.498													24	84					0	0	1	0	0	T	135239871	C	T	135239871	2	4	259	1	0	0	0	0	0	0	0	1	505	680	24	3		3	ALDH8A1	6	135239871	Silent	SNP	C	TCGA-HW-7486-01A-11D-2024-08	79195252	135239871	35875196	13	11333											
TMEM85	51234	broad.mit.edu	37	chr15	34517776	34517776	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtggccagggagactcgctCtacccagtcggttacttgga	8	9	13	11	2	1	1	0	0	1	1	3	3	1	2	2	4	2	2	2	4	2	3			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr15:34517776C>G	uc001zhq.3	+	1	197	c.126C>G	c.(124-126)ctC>ctG	p.L42L	TMEM85_uc010ucb.1_Silent_p.L42L|TMEM85_uc001zhs.3_Silent_p.L42L	NM_016454	NP_057538	Q5J8M3	TMM85_HUMAN	Homo sapiens transmembrane protein 85 (TMEM85), mRNA.	42					apoptosis	integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7		all_lung(180;1.15e-06)		all cancers(64;1.03e-17)|GBM - Glioblastoma multiforme(113;3.33e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)|Lung(196;0.217)		GAGACTCGCTCTACCCAGTCG	0.512													49	85					0	0	1	0	0	G	34517776	C	G	34517776	2	3	259	1	0	0	0	0	0	0	0	1	16204	900	32	5		5	TMEM85	15	34517776	Silent	SNP	C	TCGA-HW-7486-01A-11D-2024-08		34517776	68013616	14	11334											
ENOSF1	55556	broad.mit.edu	37	chr18	706562	706562	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgacgacataggcagccgagTagtcagggtccgtgtgctgc	8	8	15	10	3	1	1	1	1	0	0	2	3	2	1	2	2	3	3	2	2	2	2			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr18:706562T>C	uc010dkf.3	-	1	175	c.164A>G	c.(163-165)tAc>tGc	p.Y55C	ENOSF1_uc002kku.4_Missense_Mutation_p.Y34C|ENOSF1_uc002kkt.4_5'UTR|ENOSF1_uc010dke.3_Non-coding_Transcript|ENOSF1_uc002kkw.4_5'UTR|ENOSF1_uc010wyt.1_Non-coding_Transcript	NM_202758	NP_974487	Q7L5Y1	ENOF1_HUMAN	Homo sapiens enolase superfamily member 1 (ENOSF1), transcript variant 3, mRNA.	34					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding	p.I54I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						GGCAGCCGAGTAGTCAGGGTC	0.498													8	61					0	0	1	0	0	C	706562	T	C	706562	3	2	259	1	0	0	0	0	1	0	0	0	5125	1638	57	3	1290	3	ENOSF1	18	706562	Missense_Mutation	SNP	T	TCGA-HW-7486-01A-11D-2024-08		706562	77370686	15	11335											
CDKN2C	1031	broad.mit.edu	37	chr1	51439758	51439758	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagggaacctgcccttgcActtggctgccaaagaaggcc	10	7	12	12	0	0	2	0	1	0	1	0	3	0	3	4	3	4	2	4	3	4	2			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr1:51439758A>G	uc001csf.3	+	2	2298	c.323A>G	c.(322-324)cAc>cGc	p.H108R	CDKN2C_uc001csg.3_Missense_Mutation_p.H108R	NM_001262	NP_523240	P42773	CDN2C_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) (CDKN2C), transcript variant 1, mRNA.	108					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|cell cycle arrest|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		CTGCCCTTGCACTTGGCTGCC	0.552			D		"glioma, MM"								9	9					0	0	0.307466	0	0	G	51439758	A	G	51439758	3	3	260	1	0	0	0	0	1	0	0	0	3165	159	6	3	329	3	CDKN2C	1	51439758	Missense_Mutation	SNP	A	TCGA-HW-7487-01A-11D-2024-08		51439758	197810863	1	11336											
RAVER2	55225	broad.mit.edu	37	chr1	65268661	65268661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttttattttctcaaagccGttcttggaacacctcacagc	10	14	5	12	1	3	0	2	0	2	0	4	1	3	1	2	1	3	1	2	1	3	6			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr1:65268661G>A	uc001dbt.2	+	3	792	c.745G>A	c.(745-747)Gtt>Att	p.V249I	RAVER2_uc001dbs.2_Missense_Mutation_p.V370I|RAVER2_uc010opb.2_Missense_Mutation_p.V249I	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 2 (RAVER2), mRNA.	370	RRM 3.					cytoplasm|nucleus	RNA binding|nucleotide binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						tCTCAAAGCCGTTCTTGGAAC	0.299													3	38					0	0	0.115264	0	0	A	65268661	G	A	65268661	3	1	260	1	0	0	0	0	1	0	0	0	13095	1145	40	1	1130	1	RAVER2	1	65268661	Missense_Mutation	SNP	G	TCGA-HW-7487-01A-11D-2024-08	13828903	65268661	183981960	2	11337											
FUBP1	8880	broad.mit.edu	37	chr1	78426058	78426059	+	Frame_Shift_Ins	INS	-	-	T																															ggcctggtggtccaggattaINStaaggtgcagggttgtatgg																										TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr1:78426058_78426059insT	uc001dii.3	-	14	1555_1556	c.1466_1467insA	c.(1465-1467)tatfs	p.Y489fs	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Frame_Shift_Ins_p.Y510fs	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	489	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GTCCAGGATTATAAGGTGCAGG	0.545			"F, N"		oligodendroglioma								13	6	---	---	---	---						T	78426059	-	T	78426058	7	5	260	1	0	1	1	0	0	0	0	0	6092	456	16	0	491	0	FUBP1	1	78426058	Frame_Shift_Ins	INS	-	TCGA-HW-7487-01A-11D-2024-08	13157397	78426058	170824563	3	11338											
TTN	7273	broad.mit.edu	37	chr2	179433152	179433152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaatactttcagcactgaCgtcatcaaatttaacaggtc	13	13	6	9	1	3	1	3	1	0	0	4	1	3	1	0	1	3	2	0	1	4	5			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr2:179433152C>T	uc021vsy.1	-	274	70228	c.70003G>A	c.(70003-70005)Gtc>Atc	p.V23335I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V17030I|TTN_uc021vta.1_Missense_Mutation_p.V16963I|TTN_uc021vtb.1_Missense_Mutation_p.V16838I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24262	Fibronectin type-III 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGCACTGACGTCATCAAAT	0.403													8	40					0	0	0.27861	0	0	T	179433152	C	T	179433152	3	4	260	1	0	0	0	0	1	0	0	0	16732	536	19	1	30420	1	TTN	2	179433152	Missense_Mutation	SNP	C	TCGA-HW-7487-01A-11D-2024-08		179433152	63766221	4	11339											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								19	63					0	0	0.592651	0	0	T	209113112	C	T	209113112	3	4	260	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-7487-01A-11D-2024-08	29679960	209113112	34086261	5	11340											
ITPR1	3708	broad.mit.edu	37	chr3	4725122	4725122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acggcggcagaacctttctcCgtgtcctgctccacttgacg	6	10	10	15	4	1	2	0	1	1	1	4	2	3	2	4	2	2	2	4	2	1	2			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr3:4725122C>T	uc003bqc.3	+	25	3519	c.3169C>T	c.(3169-3171)Cgt>Tgt	p.R1057C	ITPR1_uc021wsi.1_Missense_Mutation_p.R1063C|ITPR1_uc021wsj.1_Missense_Mutation_p.R1048C|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1072					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AACCTTTCTCCGTGTCCTGCT	0.582													63	129					0	0	0.870114	0	0	T	4725122	C	T	4725122	3	4	260	1	0	0	0	0	1	0	0	0	7920	652	23	2	3312	2	ITPR1	3	4725122	Missense_Mutation	SNP	C	TCGA-HW-7487-01A-11D-2024-08		4725122	193297308	6	11341											
MYLK	4638	broad.mit.edu	37	chr3	123419711	123419711	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcagcacccctcgcacGtcctcgccgtcttcctcctc	3	11	5	22	4	3	0	1	0	2	0	9	0	6	0	6	0	1	2	6	0	0	2			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr3:123419711G>A	uc003ego.3	-	17	2886	c.2604C>T	c.(2602-2604)gaC>gaT	p.D868D	MYLK_uc011bjw.2_Silent_p.D868D|MYLK_uc003egp.3_Silent_p.D799D|MYLK_uc003egq.3_Silent_p.D868D|MYLK_uc003egr.3_Silent_p.D799D|MYLK_uc003egs.3_Silent_p.D692D|MYLK_uc003egt.3_Silent_p.D59D	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	868	5 X 28 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCCCTCGCACGTCCTCGCCGT	0.652													31	74					0	0	0.804634	0	0	A	123419711	G	A	123419711	2	1	260	1	0	0	0	0	0	0	0	1	10056	1136	40	1		1	MYLK	3	123419711	Silent	SNP	G	TCGA-HW-7487-01A-11D-2024-08	118694589	123419711	74602719	7	11342											
MARCH1	55016	broad.mit.edu	37	chr4	164450155	164450155	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacctcctgtgaagccaatGgctaccacaaccagttttgt	11	10	8	12	0	0	2	0	1	0	1	1	2	1	2	5	1	3	2	5	1	4	3			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr4:164450155G>C	uc003iqs.2	-	7	797	c.615C>G	c.(613-615)gcC>gcG	p.A205A	MARCH1_uc003iqr.2_Silent_p.A188A	NM_001166373	NP_001159845	Q8TCQ1	MARH1_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 1 (MARCH1), transcript variant 1, mRNA.	205					antigen processing and presentation of peptide antigen via MHC class II|immune response	Golgi apparatus|cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGAAGCCAATGGCTACCACAA	0.438													3	45					0	0	0.150653	0	0	C	164450155	G	C	164450155	2	2	260	1	0	0	0	0	0	0	0	1	9298	1335	47	5		5	MARCH1	4	164450155	Silent	SNP	G	TCGA-HW-7487-01A-11D-2024-08		164450155	26704121	8	11343											
TIFAB	497189	broad.mit.edu	37	chr5	134785348	134785348	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcagggggacctgctcCaggtacctcagcgtcagccc	6	7	13	15	1	3	0	3	0	0	0	4	1	4	1	4	3	5	3	4	3	1	1			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr5:134785348C>T	uc003law.4	-	1	483	c.282G>A	c.(280-282)ctG>ctA	p.L94L	C5orf20_uc003lav.3_5'Flank|TIFAB_uc021ydu.1_Silent_p.L94L	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	Homo sapiens TRAF-interacting protein with forkhead-associated domain, family member B (TIFAB), mRNA.	94										breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGACCTGCTCCAGGTACCTCA	0.607													49	108					0	0	0.870114	0	0	T	134785348	C	T	134785348	2	4	260	1	0	0	0	0	0	0	0	1	15892	581	21	3		3	TIFAB	5	134785348	Silent	SNP	C	TCGA-HW-7487-01A-11D-2024-08		134785348	46129912	9	11344											
TRPC7	57113	broad.mit.edu	37	chr5	135693009	135693009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggaccccggatggcctggcGacggcccttctccctcagcg	4	6	14	17	4	2	0	1	0	1	0	3	3	2	2	5	5	1	0	5	5	0	1			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr5:135693009G>A	uc003lbn.2	-	1	289	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C	TRPC7_uc010jef.2_Missense_Mutation_p.R14C|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Missense_Mutation_p.R23C|TRPC7_uc010jei.2_Missense_Mutation_p.R23C	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	23					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATGGCCTGGCGACGGCCCTTC	0.587													37	52					0	0	0.779181	0	0	A	135693009	G	A	135693009	3	1	260	1	0	0	0	0	1	0	0	0	16581	1058	37	2	2565	2	TRPC7	5	135693009	Missense_Mutation	SNP	G	TCGA-HW-7487-01A-11D-2024-08	907661	135693009	45222251	10	11345											
SSPO	23145	broad.mit.edu	37	chr7	149486800	149486800	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggagccgatgaggggcCgggacactgccccctacctt	8	6	14	13	2	0	2	0	1	0	1	0	5	0	4	5	4	3	0	5	4	1	2			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr7:149486800C>T	uc010lpk.3	+	30	4574	c.4574C>T	c.(4573-4575)cCg>cTg	p.P1525L		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1525	LDL-receptor class A 4.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GATGAGGGGCCGGGACACTGC	0.682													13	28					0	0	0.457914	0	0	T	149486800	C	T	149486800	3	4	260	1	0	0	0	0	1	0	0	0	15188	652	23	2	4692	2	SSPO	7	149486800	Missense_Mutation	SNP	C	TCGA-HW-7487-01A-11D-2024-08		149486800	9651863	11	11346											
ADCY8	114	broad.mit.edu	37	chr8	131922058	131922058	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaccgcacagcaccgagccGgagtggattccaatcctcat	11	6	9	15	3	1	0	1	0	0	0	3	3	3	2	5	2	2	2	5	2	1	1	rs150100724		TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr8:131922058G>A	uc003ytd.4	-	5	1792	c.1536C>T	c.(1534-1536)tcC>tcT	p.S512S	ADCY8_uc010mds.3_Silent_p.S512S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	512					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCACCGAGCCGGAGTGGATTC	0.473										HNSCC(32;0.087)			5	113					0	0	0.184627	0	0	A	131922058	G	A	131922058	2	1	260	1	0	0	0	0	0	0	0	1	300	1103	39	2		2	ADCY8	8	131922058	Silent	SNP	G	TCGA-HW-7487-01A-11D-2024-08		131922058	14441964	12	11347											
IDI1	3422	broad.mit.edu	37	chr10	1089327	1089327	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacactaaaagctcgatgcAataatcctgaaagcaaaaga	20	6	7	8	1	0	3	0	1	0	2	2	4	1	3	1	0	3	3	1	0	7	2			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr10:1089327A>G	uc001iga.3	-	2	438	c.320T>C	c.(319-321)tTg>tCg	p.L107S	IDI2-AS1_uc010qaf.1_Intron|IDI2-AS1_uc001ifx.3_Intron|IDI2-AS1_uc001ifw.3_Intron|IDI2-AS1_uc001ify.3_Intron|IDI1_uc001ifz.3_Missense_Mutation_p.L51S|IDI1_uc001igb.3_Non-coding_Transcript|IDI1_uc001igc.3_Missense_Mutation_p.L51S	NM_004508	NP_004499	Q13907	IDI1_HUMAN	Homo sapiens isopentenyl-diphosphate delta isomerase 1 (IDI1), mRNA.	50	Nudix hydrolase.				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding	p.L106*(1)|p.L106F(1)		large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		AGCTCGATGCAATAATCCTGA	0.348													19	27					0	0	0.592651	0	0	G	1089327	A	G	1089327	3	3	260	1	0	0	0	0	1	0	0	0	7499	131	5	3	546	3	IDI1	10	1089327	Missense_Mutation	SNP	A	TCGA-HW-7487-01A-11D-2024-08		1089327	134445420	13	11348											
DAO	1610	broad.mit.edu	37	chr12	109294236	109294236	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accatccactggggatgtgcCctggaggcagccaagctctt	8	8	12	13	0	1	0	0	0	1	0	2	2	2	2	4	4	3	2	4	4	1	1			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr12:109294236C>T	uc001tnr.4	+	10	1640	c.969C>T	c.(967-969)gcC>gcT	p.A323A	DAO_uc001tnq.4_Silent_p.A257A|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	NM_001917	NP_001908	P14920	OXDA_HUMAN	Homo sapiens D-amino-acid oxidase (DAO), mRNA.	323					glyoxylate metabolic process	peroxisomal matrix	D-amino-acid oxidase activity|binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						GGGGATGTGCCCTGGAGGCAG	0.572													18	90					0	0	0.539581	0	0	T	109294236	C	T	109294236	2	4	260	1	0	0	0	0	0	0	0	1	4231	610	22	3		3	DAO	12	109294236	Silent	SNP	C	TCGA-HW-7487-01A-11D-2024-08		109294236	24557659	14	11349											
DIAPH3	81624	broad.mit.edu	37	chr13	60582733	60582734	+	Frame_Shift_Ins	INS	-	-	T																															aatacaaaaaaatctgtcaaINStttttttttcttcaccagct																										TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr13:60582733_60582734insT	uc001vht.3	-	8	1177_1178	c.958_959insA	c.(958-960)attfs	p.I320fs	DIAPH3_uc001vhu.3_Frame_Shift_Ins_p.I57fs|DIAPH3_uc001vhw.1_Frame_Shift_Ins_p.I309fs|DIAPH3_uc010aed.1_Frame_Shift_Ins_p.I274fs|DIAPH3_uc010aee.1_Frame_Shift_Ins_p.I250fs	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	320	GBD/FH3.				actin cytoskeleton organization		Rho GTPase binding|actin binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAATCTGTCAATTTTTTTTTCT	0.322													7	143	---	---	---	---						T	60582734	-	T	60582733	7	5	260	1	0	1	1	0	0	0	0	0	4520	101	4	0	2722	0	DIAPH3	13	60582733	Frame_Shift_Ins	INS	-	TCGA-HW-7487-01A-11D-2024-08		60582733	54587145	15	11350											
OR4K15	81127	broad.mit.edu	37	chr14	20444378	20444378	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggctttctttctctgagttCctttctcctcttggttgtct	1	22	7	11	0	5	1	0	1	5	0	8	1	6	1	2	2	0	3	2	2	0	6			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr14:20444378C>T	uc010tkx.2	+	0	701	c.701C>T	c.(700-702)tCc>tTc	p.S234F		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 15 (OR4K15), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTCTGAGTTCCTTTCTCCTC	0.453													42	97					0	0	0.834066	0	0	T	20444378	C	T	20444378	3	4	260	1	0	0	0	0	1	0	0	0	11070	855	30	3	703	3	OR4K15	14	20444378	Missense_Mutation	SNP	C	TCGA-HW-7487-01A-11D-2024-08		20444378	86905162	16	11351											
CHD8	57680	broad.mit.edu	37	chr14	21868155	21868155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttacctggcaatcgcacccCctaacaccttttctgcttgg	7	13	6	15	1	1	0	0	0	1	0	2	0	1	0	4	2	3	3	4	2	3	6			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr14:21868155C>T	uc001war.2	-	23	4867	c.4802G>A	c.(4801-4803)gGg>gAg	p.G1601E	CHD8_uc001was.2_Missense_Mutation_p.G1322E|SNORD8_uc001wau.1_5'Flank	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	1601					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AATCGCACCCCCTAACACCTT	0.423													71	180					0	0	0.870114	0	0	T	21868155	C	T	21868155	3	4	260	1	0	0	0	0	1	0	0	0	3331	623	22	3	2999	3	CHD8	14	21868155	Missense_Mutation	SNP	C	TCGA-HW-7487-01A-11D-2024-08	1423777	21868155	85481385	17	11352											
AHNAK2	113146	broad.mit.edu	37	chr14	105420366	105420366	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggtgggccaatctgtgtGcctccttcggttgtgtctct	2	16	12	11	1	3	0	0	0	3	0	6	0	4	0	3	3	1	1	3	3	1	2			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr14:105420366G>A	uc010axc.1	-	6	1542	c.1422C>T	c.(1420-1422)ggC>ggT	p.G474G	AHNAK2_uc021seo.1_5'Flank|AHNAK2_uc001ypx.2_Silent_p.G374G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	474						nucleus		p.G474G(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAATCTGTGTGCCTCCTTCGG	0.522													8	48					0	0	0.307466	0	0	A	105420366	G	A	105420366	2	1	260	1	0	0	0	0	0	0	0	1	415	1306	46	3		3	AHNAK2	14	105420366	Silent	SNP	G	TCGA-HW-7487-01A-11D-2024-08	83552211	105420366	1929174	18	11353											
SPTBN5	51332	broad.mit.edu	37	chr15	42164528	42164528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccaactcctgcagtgcccGcagctgctcccggagcctct	5	7	10	19	3	1	0	0	0	1	0	3	1	3	1	5	1	6	4	5	1	1	0			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr15:42164528G>A	uc001zos.3	-	26	5365	c.5032C>T	c.(5032-5034)Cgg>Tgg	p.R1678W		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	1713					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGCAGTGCCCGCAGCTGCTCC	0.637													8	16					0	0	0.27861	0	0	A	42164528	G	A	42164528	3	1	260	1	0	0	0	0	1	0	0	0	15121	1086	38	1	6055	1	SPTBN5	15	42164528	Missense_Mutation	SNP	G	TCGA-HW-7487-01A-11D-2024-08		42164528	60366864	19	11354											
RNF151	146310	broad.mit.edu	37	chr16	2018730	2018730	+	Frame_Shift_Del	DEL	C	C	-																															ccgtcggcccctgctgctgtCcctcctgcggcgtgtgcgct																										TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr16:2018730delC	uc002cnt.1	+	3	550	c.542delC	c.(541-543)tccfs	p.S181fs	TCRBV20S1_uc021tak.1_Intron	NM_174903	NP_777563	Q2KHN1	RN151_HUMAN	Homo sapiens ring finger protein 151 (RNF151), mRNA.	181					cell differentiation|spermatogenesis	cytoplasm|nucleus	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(1)	2						CTGCTGCTGTCCCTCCTGCGG	0.687													2	4	---	---	---	---						-	2018730	C	-	2018730	7	5	260	1	0	1	0	1	0	0	0	0	13452	855	30	0	556	0	RNF151	16	2018730	Frame_Shift_Del	DEL	C	TCGA-HW-7487-01A-11D-2024-08		2018730	88336023	20	11355											
LAMA3	3909	broad.mit.edu	37	chr18	21330907	21330907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtccttgataaacggtcGtccaggtgcaaaaaatttta	12	12	10	7	2	0	1	0	1	0	0	3	1	2	1	2	3	2	1	2	3	6	4			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr18:21330907G>A	uc002kuq.3	+	4	796	c.710G>A	c.(709-711)cGt>cAt	p.R237H	LAMA3_uc010dlv.2_Missense_Mutation_p.R237H|LAMA3_uc002kur.3_Missense_Mutation_p.R237H	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	237	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATAAACGGTCGTCCAGGTGCA	0.393													51	81					0	0	0.870114	0	0	A	21330907	G	A	21330907	3	1	260	1	0	0	0	0	1	0	0	0	8607	1145	40	1	728	1	LAMA3	18	21330907	Missense_Mutation	SNP	G	TCGA-HW-7487-01A-11D-2024-08		21330907	56746341	21	11356											
C19orf21	126353	broad.mit.edu	37	chr19	757295	757295	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cactccgcccagaggacgggGaggacaaggagatgaagacc	13	2	15	11	2	0	4	0	1	0	3	1	8	1	7	3	5	0	0	3	5	2	0			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr19:757295G>C	uc002lpo.3	+	1	432	c.349G>C	c.(349-351)Gag>Cag	p.E117Q		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	117										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		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)		AGAGGACGGGGAGGACAAGGA	0.667													12	21					0	0	0.38729	0	0	C	757295	G	C	757295	3	2	260	1	0	0	0	0	1	0	0	0	1913	1175	41	5	351	5	C19orf21	19	757295	Missense_Mutation	SNP	G	TCGA-HW-7487-01A-11D-2024-08		757295	58371688	22	11357											
CIC	23152	broad.mit.edu	37	chr19	42791758	42791758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcttcagcaagcggcaccGggccctggtccaccagcgtc	7	6	12	16	3	2	0	1	0	1	0	4	1	3	0	4	3	3	2	4	3	1	1			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr19:42791758G>A	uc002otf.1	+	4	684	c.644G>A	c.(643-645)cGg>cAg	p.R215Q		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215W(4)|p.R215Q(4)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AAGCGGCACCGGGCCCTGGTC	0.612			"Mis, F, S"		oligodendroglioma								21	15					0	0	0.592651	0	0	A	42791758	G	A	42791758	3	1	260	1	0	0	0	0	1	0	0	0	3424	1116	39	2	662	2	CIC	19	42791758	Missense_Mutation	SNP	G	TCGA-HW-7487-01A-11D-2024-08	42034463	42791758	16337225	23	11358											
NLRP9	338321	broad.mit.edu	37	chr19	56249567	56249567	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgggtaatgtttgtccagCagctttgctacatcttcttt	6	17	8	10	0	2	0	0	0	2	0	3	0	3	0	2	1	4	5	2	1	2	6			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr19:56249567C>A	uc002qly.3	-	0	202	c.174G>T	c.(172-174)ctG>ctT	p.L58L		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	58	DAPIN.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GTTTGTCCAGCAGCTTTGCTA	0.458													173	158					2.1706e-81	2.27396e-81	0.870114	1	0	A	56249567	C	A	56249567	2	1	260	1	0	0	0	0	0	0	0	1	10484	697	25	5		5	NLRP9	19	56249567	Silent	SNP	C	TCGA-HW-7487-01A-11D-2024-08	13457809	56249567	2879416	24	11359											
UMODL1	89766	broad.mit.edu	37	chr21	43519136	43519136	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagaaccacactttccatgtCcgggtttaccggggtatgga	9	10	11	11	2	0	1	0	0	0	1	2	2	2	2	4	4	2	2	4	4	3	4			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr21:43519136C>T	uc002zag.1	+	6	1032	c.1032C>T	c.(1030-1032)gtC>gtT	p.V344V	UMODL1_uc002zad.1_Silent_p.V272V|UMODL1_uc002zae.1_Silent_p.V272V|UMODL1_uc002zaf.1_Silent_p.V344V|UMODL1_uc010gow.1_Silent_p.V136V|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_5'UTR|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Silent_p.V89V	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	344	Fibronectin type-III 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CTTTCCATGTCCGGGTTTACC	0.542													32	59					0	0	0.750413	0	0	T	43519136	C	T	43519136	2	4	260	1	0	0	0	0	0	0	0	1	16977	842	30	3		3	UMODL1	21	43519136	Silent	SNP	C	TCGA-HW-7487-01A-11D-2024-08		43519136	4610759	25	11360											
CR1L	1379	broad.mit.edu	37	chr1	207890949	207890949	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaccttcaacctcattgggGagagcaccatccgccgcaca	10	7	9	15	2	2	2	2	1	0	1	3	3	3	2	5	2	2	2	5	2	1	2			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr1:207890949G>T	uc001hga.4	+	10	1676	c.1555G>T	c.(1555-1557)Gag>Tag	p.E519*	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	519	Sushi 8.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCTCATTGGGGAGAGCACCAT	0.542													9	165					1.76689e-08	2.0787e-08	1	1	0	T	207890949	G	T	207890949	4	4	261	1	0	0	0	0	0	1	0	0	3841	1175	41	5	1597	5	CR1L	1	207890949	Nonsense_Mutation	SNP	G	TCGA-HW-7489-01A-11D-2024-08		207890949	41359672	1	11361											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								17	52					0	0	1	0	0	T	209113112	C	T	209113112	3	4	261	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-7489-01A-11D-2024-08		209113112	34086261	2	11362											
IGSF10	285313	broad.mit.edu	37	chr3	151164878	151164878	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatagaagtgattgtgcctgGgttcactcacttctcttaca	10	14	8	9	0	3	2	2	1	1	1	4	2	3	2	1	1	2	1	1	1	4	5			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr3:151164878G>T	uc011bod.2	-	3	2891	c.2891C>A	c.(2890-2892)cCc>cAc	p.P964H		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	964					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTGTGCCTGGGTTCACTCAC	0.418													8	169					0.000157383	0.000170144	1	1	0	T	151164878	G	T	151164878	3	4	261	1	0	0	0	0	1	0	0	0	7597	1232	43	5	5040	5	IGSF10	3	151164878	Missense_Mutation	SNP	G	TCGA-HW-7489-01A-11D-2024-08		151164878	46857552	3	11363											
MECOM	2122	broad.mit.edu	37	chr3	168834410	168834410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtttatttaaggaagacGtagtgctgaacatttgtcca	11	15	10	5	1	0	2	0	1	0	1	1	3	1	3	1	1	2	3	1	1	5	6			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr3:168834410G>A	uc011bpj.1	-	7	1653	c.1250C>T	c.(1249-1251)aCg>aTg	p.T417M	MECOM_uc010hwk.1_Missense_Mutation_p.T252M|MECOM_uc003ffj.3_Missense_Mutation_p.T294M|MECOM_uc003ffi.3_Missense_Mutation_p.T229M|MECOM_uc011bpi.1_Missense_Mutation_p.T230M|MECOM_uc003ffn.3_Missense_Mutation_p.T229M|MECOM_uc003ffk.2_Missense_Mutation_p.T229M|MECOM_uc003ffl.2_Missense_Mutation_p.T389M|MECOM_uc011bpk.1_Missense_Mutation_p.T229M|MECOM_uc010hwn.2_Missense_Mutation_p.T417M	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity	p.T229R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TAAGGAAGACGTAGTGCTGAA	0.453													16	125					0	0	1	0	0	A	168834410	G	A	168834410	3	1	261	1	0	0	0	0	1	0	0	0	9422	1145	40	1	2509	1	MECOM	3	168834410	Missense_Mutation	SNP	G	TCGA-HW-7489-01A-11D-2024-08	17669532	168834410	29188020	4	11364											
FAM193A	8603	broad.mit.edu	37	chr4	2696820	2696820	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaaggagggcaagtactgCgactgctgctactgcgaatt	11	8	13	9	2	0	1	0	0	0	1	0	4	0	2	0	2	6	4	0	2	5	3			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr4:2696820C>T	uc010ick.3	+	15	2968	c.2967C>T	c.(2965-2967)tgC>tgT	p.C989C	FAM193A_uc003gfd.3_Silent_p.C789C|FAM193A_uc011bvm.2_Silent_p.C811C|FAM193A_uc011bvn.2_Silent_p.C789C|FAM193A_uc010icl.3_Silent_p.C789C|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Intron|FAM193A_uc003gfe.2_Silent_p.C643C	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	789								p.H989N(1)		NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GCAAGTACTGCGACTGCTGCT	0.582													5	50					0	0	1	0	0	T	2696820	C	T	2696820	2	4	261	1	0	0	0	0	0	0	0	1	5524	776	27	1		1	FAM193A	4	2696820	Silent	SNP	C	TCGA-HW-7489-01A-11D-2024-08		2696820	188457456	5	11365											
KDM3B	51780	broad.mit.edu	37	chr5	137708439	137708439	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctgaggaagttatcgtgcTtctgctggaagggtctcttg	6	14	14	7	1	2	1	0	1	2	0	4	3	2	3	0	3	3	4	0	3	3	3			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr5:137708439T>A	uc003lcy.1	+	1	469	c.269T>A	c.(268-270)cTt>cAt	p.L90H	KDM3B_uc010jew.1_5'UTR	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN	Homo sapiens lysine (K)-specific demethylase 3B (KDM3B), mRNA.	90					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GTTATCGTGCTTCTGCTGGAA	0.507													35	59					0	0	1	0	0	A	137708439	T	A	137708439	3	1	261	1	0	0	0	0	1	0	0	0	8127	1609	56	5	275	5	KDM3B	5	137708439	Missense_Mutation	SNP	T	TCGA-HW-7489-01A-11D-2024-08		137708439	43206821	6	11366											
GRK6	2870	broad.mit.edu	37	chr5	176857877	176857877	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctattgctcccacaggtggCggtggaaatcgcaaaggcaa	11	7	12	11	2	0	0	0	0	0	0	2	1	1	1	2	5	1	3	2	5	4	2			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr5:176857877C>T	uc021yit.1	+	1	217	c.57C>T	c.(55-57)ggC>ggT	p.G19G	GRK6_uc003mgq.2_Silent_p.G19G|GRK6_uc021yiu.1_Silent_p.G19G|GRK6_uc003mgs.1_5'Flank	NM_001004106	NP_001004106	P43250	GRK6_HUMAN	Homo sapiens G protein-coupled receptor kinase 6 (GRK6), transcript variant 1, mRNA.	19	N-terminal.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCACAGGTGGCGGTGGAAATC	0.612													9	24					0	0	1	0	0	T	176857877	C	T	176857877	2	4	261	1	0	0	0	0	0	0	0	1	6793	755	27	1		1	GRK6	5	176857877	Silent	SNP	C	TCGA-HW-7489-01A-11D-2024-08	39149438	176857877	4057383	7	11367											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18776969	18776969	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcacctgggagaaggaCggccagcacctcatcagctc	10	6	10	15	1	4	1	4	0	0	1	5	3	4	2	3	3	2	2	3	3	1	0			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr9:18776969C>T	uc003zne.4	+	18	2894	c.2742C>T	c.(2740-2742)gaC>gaT	p.D914D		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	914	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGGAGAAGGACGGCCAGCACC	0.677													17	42					0	0	1	0	0	T	18776969	C	T	18776969	2	4	261	1	0	0	0	0	0	0	0	1	274	535	19	1		1	ADAMTSL1	9	18776969	Silent	SNP	C	TCGA-HW-7489-01A-11D-2024-08		18776969	122436462	8	11368											
MCM10	55388	broad.mit.edu	37	chr10	13231079	13231079	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcctcgtatgcagcttcaAtgtaagacgttctcgggctt	7	13	10	11	3	2	1	1	0	1	1	4	1	2	1	1	1	3	6	1	1	3	5			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr10:13231079A>G	uc001ima.3	+	10	1546	c.1418_splice	c.e10+1	p.I473_splice	MCM10_uc001imb.3_Splice_Site_p.I472_splice|MCM10_uc001imc.3_Splice_Site_p.I472_splice	NM_182751	NP_877428	Q7L590	MCM10_HUMAN	Homo sapiens minichromosome maintenance complex component 10 (MCM10), transcript variant 1, mRNA.	473					DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TGCAGCTTCAATGTAAGACGT	0.478													11	68					0	0	1	0	0	G	13231079	A	G	13231079	5	3	261	1	0	0	0	0	0	0	1	0	9385	115	4	3	1451	3	MCM10	10	13231079	Splice_Site	SNP	A	TCGA-HW-7489-01A-11D-2024-08		13231079	122303668	9	11369											
TCF7L2	6934	broad.mit.edu	37	chr10	114912156	114912156	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcccggaaggagcgacagcTtcatatgcaactgtaccccg	10	6	12	13	3	1	0	1	0	0	0	1	3	1	2	3	3	5	3	3	3	4	3			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr10:114912156T>G	uc021pyi.1	+	10	1733	c.1226T>G	c.(1225-1227)cTt>cGt	p.L409R	TCF7L2_uc001lah.3_Missense_Mutation_p.L391R|TCF7L2_uc010qro.2_Missense_Mutation_p.L386R|TCF7L2_uc001lae.4_Missense_Mutation_p.L409R|TCF7L2_uc010qrm.2_Missense_Mutation_p.L409R|TCF7L2_uc010qrn.2_Missense_Mutation_p.L352R|TCF7L2_uc021pyg.1_Missense_Mutation_p.L125R|TCF7L2_uc021pyh.1_Missense_Mutation_p.L391R|TCF7L2_uc021pyj.1_Missense_Mutation_p.L409R|TCF7L2_uc021pyk.1_Missense_Mutation_p.L391R|TCF7L2_uc021pyl.1_Missense_Mutation_p.L391R|TCF7L2_uc010qrp.2_Missense_Mutation_p.L386R|TCF7L2_uc021pym.1_Missense_Mutation_p.L382R|TCF7L2_uc021pyn.1_Missense_Mutation_p.L414R|TCF7L2_uc021pyo.1_Missense_Mutation_p.L414R|TCF7L2_uc021pyp.1_Missense_Mutation_p.L405R|TCF7L2_uc010qrq.2_Missense_Mutation_p.L382R|TCF7L2_uc001lac.4_Missense_Mutation_p.L386R|TCF7L2_uc010qrk.2_Missense_Mutation_p.L386R|TCF7L2_uc001lad.4_Missense_Mutation_p.L382R|TCF7L2_uc001lag.4_Missense_Mutation_p.L433R|TCF7L2_uc001laf.4_Missense_Mutation_p.L386R|TCF7L2_uc010qrl.2_Missense_Mutation_p.L386R|TCF7L2_uc010qrr.2_Missense_Mutation_p.L324R|TCF7L2_uc010qrs.2_Missense_Mutation_p.L280R|TCF7L2_uc010qrt.2_Missense_Mutation_p.L280R|TCF7L2_uc010qru.2_Missense_Mutation_p.L308R|TCF7L2_uc010qrv.2_Missense_Mutation_p.L226R|TCF7L2_uc010qrw.2_Missense_Mutation_p.L113R|TCF7L2_uc010qrx.2_Missense_Mutation_p.L266R|Mir_652_uc021pyq.1_5'Flank	NM_030756	NP_110383	Q9NQB0	TF7L2_HUMAN	Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA.	409					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	PML body|beta-catenin-TCF7L2 complex|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		GAGCGACAGCTTCATATGCAA	0.527			T	VTI1A	colorectal								21	204					0	0	1	0	0	G	114912156	T	G	114912156	3	3	261	1	0	0	0	0	1	0	0	0	15695	1609	56	5	1413	5	TCF7L2	10	114912156	Missense_Mutation	SNP	T	TCGA-HW-7489-01A-11D-2024-08	101681077	114912156	20622591	10	11370											
FADS2	9415	broad.mit.edu	37	chr11	61630533	61630533	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagccctccttttcctcaaCttcatcaggtgcctgggctt	5	13	9	14	0	3	0	3	0	0	0	5	1	5	1	4	3	3	1	4	3	1	4			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr11:61630533C>G	uc001nsl.1	+	7	1122	c.972C>G	c.(970-972)aaC>aaG	p.N324K	FADS2_uc001nsj.2_Missense_Mutation_p.N302K|FADS2_uc010rlo.1_Missense_Mutation_p.N293K|FADS2_uc001nsk.3_Missense_Mutation_p.N324K	NM_004265	NP_004256	O95864	FADS2_HUMAN	Homo sapiens fatty acid desaturase 2 (FADS2), mRNA.	324					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	TTTTCCTCAACTTCATCAGGT	0.577													4	79					0	0	1	0	0	G	61630533	C	G	61630533	3	3	261	1	0	0	0	0	1	0	0	0	5366	564	20	5	1002	5	FADS2	11	61630533	Missense_Mutation	SNP	C	TCGA-HW-7489-01A-11D-2024-08		61630533	73375983	11	11371											
FAT3	120114	broad.mit.edu	37	chr11	92600243	92600243	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataacaatgagctgccgctgCagaacaagcgcagcagcttc	13	6	10	12	2	0	2	0	1	0	1	1	2	0	2	1	0	8	6	1	0	4	2			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr11:92600243C>T	uc001pdj.4	+	20	12012	c.11995C>T	c.(11995-11997)Cag>Tag	p.Q3999*	FAT3_uc001pdi.4_Nonsense_Mutation_p.Q439*	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3999	Laminin G-like.				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)				GCTGCCGCTGCAGAACAAGCG	0.637										TCGA Ovarian(4;0.039)			6	5					0	0	1	0	0	T	92600243	C	T	92600243	4	4	261	1	0	0	0	0	0	1	0	0	5691	711	25	3	12077	3	FAT3	11	92600243	Nonsense_Mutation	SNP	C	TCGA-HW-7489-01A-11D-2024-08	30969710	92600243	42406273	12	11372											
SLCO1B1	10599	broad.mit.edu	37	chr12	21392093	21392093	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataaacattttgtcccttcTgctggggcagatagtgaaac	12	12	9	8	0	1	2	0	1	1	1	2	2	2	2	1	2	3	2	1	2	5	5			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr12:21392093T>C	uc001req.4	+	14	2150	c.2046T>C	c.(2044-2046)tcT>tcC	p.S682S		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	682					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TTGTCCCTTCTGCTGGGGCAG	0.343													22	96					0	0	1	0	0	C	21392093	T	C	21392093	2	2	261	1	0	0	0	0	0	0	0	1	14723	1567	55	4		4	SLCO1B1	12	21392093	Silent	SNP	T	TCGA-HW-7489-01A-11D-2024-08		21392093	112459802	13	11373											
ANO6	196527	broad.mit.edu	37	chr12	45797221	45797221	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttctttttaaccttctaGtgtgacccaggtggctgtct	6	18	8	9	0	3	1	0	1	3	0	3	1	3	1	2	2	1	1	2	2	2	7			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr12:45797221G>T	uc010slf.2	+	16	2181	c.1846_splice	c.e16-1	p.C616_splice	ANO6_uc001roo.3_Splice_Site_p.C595_splice|ANO6_uc010sld.1_Splice_Site_p.C595_splice|ANO6_uc010sle.1_Splice_Site_p.C595_splice|ANO6_uc010slg.2_Splice_Site_p.C577_splice	NM_001204803	NP_001191732	Q4KMQ2	ANO6_HUMAN	Homo sapiens anoctamin 6 (ANO6), transcript variant 5, mRNA.	595					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TAACCTTCTAGTGTGACCCAG	0.338													8	93					0.0381472	0.040155	1	1	0	T	45797221	G	T	45797221	5	4	261	1	0	0	0	0	0	0	1	0	701	1043	36	5	1860	5	ANO6	12	45797221	Splice_Site	SNP	G	TCGA-HW-7489-01A-11D-2024-08	24405128	45797221	88054674	14	11374											
TRIM13	10206	broad.mit.edu	37	chr13	50586070	50586070	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattttttttttttctggtaGgatgtgatggagctgcttga	7	20	11	3	0	1	2	0	2	1	0	1	4	1	4	0	3	2	3	0	3	2	8			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr13:50586070G>A	uc001vdp.1	+	4	422	c.4_splice	c.e4-1	p.D2_splice	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|TRIM13_uc001vdq.1_Splice_Site|TRIM13_uc001vdr.1_Splice_Site|TRIM13_uc001vds.1_Splice_Site|TRIM13_uc021rjq.1_5'Flank	NM_001007278	NP_998755	O60858	TRI13_HUMAN	Homo sapiens tripartite motif containing 13 (TRIM13), transcript variant 4, mRNA.	103					ER-associated protein catabolic process|anatomical structure morphogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		TTTTCTGGTAGGATGTGATGG	0.373													26	65					0	0	1	0	0	A	50586070	G	A	50586070	5	1	261	1	0	0	0	0	0	0	1	0	16485	1014	35	3	9	3	TRIM13	13	50586070	Splice_Site	SNP	G	TCGA-HW-7489-01A-11D-2024-08		50586070	64583808	15	11375											
CD276	80381	broad.mit.edu	37	chr15	73992059	73992059	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgtggttctgcctcacaGgtgagggtagcagcatgggg	7	9	16	9	0	2	1	1	1	1	0	2	1	2	1	1	5	3	4	1	5	1	2			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr15:73992059G>A	uc002avv.1	+	2	313	c.79_splice	c.e2+1	p.G27_splice	CD276_uc010bjd.1_Intron|CD276_uc002avu.1_Splice_Site_p.G27_splice|CD276_uc002avw.1_Splice_Site_p.G27_splice|CD276_uc010ulb.1_Splice_Site_p.Q14_splice	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	Homo sapiens CD276 molecule (CD276), transcript variant 1, mRNA.	27					T cell activation|cell proliferation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|regulation of immune response	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						CTGCCTCACAGGTGAGGGTAG	0.662													5	35					0	0	1	0	0	A	73992059	G	A	73992059	5	1	261	1	0	0	0	0	0	0	1	0	2992	1014	35	3	81	3	CD276	15	73992059	Splice_Site	SNP	G	TCGA-HW-7489-01A-11D-2024-08		73992059	28539333	16	11376											
TELO2	9894	broad.mit.edu	37	chr16	1552970	1552970	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacagttctatgccctcaaCtacagcctccggcagcgcat	9	9	7	16	2	3	0	2	0	1	0	4	0	4	0	3	1	5	3	3	1	3	3			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr16:1552970C>A	uc002cly.3	+	14	2100	c.1809C>A	c.(1807-1809)aaC>aaA	p.N603K		NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae) (TELO2), mRNA.	603						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				ATGCCCTCAACTACAGCCTCC	0.642													6	142					5.18039e-06	5.92045e-06	1	1	0	A	1552970	C	A	1552970	3	1	261	1	0	0	0	0	1	0	0	0	15754	564	20	5	1863	5	TELO2	16	1552970	Missense_Mutation	SNP	C	TCGA-HW-7489-01A-11D-2024-08		1552970	88801783	17	11377											
CPPED1	55313	broad.mit.edu	37	chr16	12798613	12798613	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatggcatgctggcagtgccGctgcctcgcgatgctcagct	5	9	14	13	3	1	0	1	0	0	0	2	2	1	0	2	2	5	6	2	2	0	0			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr16:12798613G>A	uc002dca.4	-	2	694	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	CPPED1_uc002dcb.4_Intron	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	Homo sapiens calcineurin-like phosphoesterase domain containing 1 (CPPED1), transcript variant 1, mRNA.	195							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						TGGCAGTGCCGCTGCCTCGCG	0.602													20	74					0	0	1	0	0	A	12798613	G	A	12798613	3	1	261	1	0	0	0	0	1	0	0	0	3822	1086	38	1	369	1	CPPED1	16	12798613	Missense_Mutation	SNP	G	TCGA-HW-7489-01A-11D-2024-08	11245643	12798613	77556140	18	11378											
CDH16	1014	broad.mit.edu	37	chr16	66950067	66950067	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgcacaagcacaggctgtgGaccccacaagacatgtccat	12	6	10	13	0	0	1	0	0	0	1	1	2	1	2	3	2	2	3	3	2	2	0			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr16:66950067G>A	uc002eql.3	-	4	519	c.325C>T	c.(325-327)Cca>Tca	p.P109S	CDH16_uc010cdy.3_Missense_Mutation_p.P109S|CDH16_uc021tjx.1_Missense_Mutation_p.P109S|CDH16_uc002eqm.3_Missense_Mutation_p.P109S	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	109	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		ACAGGCTGTGGACCCCACAAG	0.612													19	80					0	0	1	0	0	A	66950067	G	A	66950067	3	1	261	1	0	0	0	0	1	0	0	0	3101	1174	41	3	2220	3	CDH16	16	66950067	Missense_Mutation	SNP	G	TCGA-HW-7489-01A-11D-2024-08	54151454	66950067	23404686	19	11379											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			16	12					0	0	1	0	0	A	7577121	G	A	7577121	3	1	261	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HW-7489-01A-11D-2024-08		7577121	73618089	20	11380											
C17orf103	256302	broad.mit.edu	37	chr17	21147493	21147493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgcaggtccacgatccGcttgcccacgtactcataga	8	9	10	14	3	1	1	1	0	0	1	3	2	3	1	3	1	4	4	3	1	2	3			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr17:21147493G>A	uc010vzx.2	-	2	150	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W		NM_152914	NP_690878	Q8N6N6	GTL3B_HUMAN	Homo sapiens chromosome 17 open reading frame 103 (C17orf103), mRNA.	51										endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						TCCACGATCCGCTTGCCCACG	0.632													3	37					0	0	1	0	0	A	21147493	G	A	21147493	3	1	261	1	0	0	0	0	1	0	0	0	1850	1086	38	1	77	1	C17orf103	17	21147493	Missense_Mutation	SNP	G	TCGA-HW-7489-01A-11D-2024-08	13570372	21147493	60047717	21	11381											
C3	718	broad.mit.edu	37	chr19	6709693	6709693	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccttgggtcactggcccttAccttactctgcgtcagtttg	4	14	10	13	1	3	0	2	0	1	0	3	0	3	0	3	2	3	1	3	2	2	4			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr19:6709693A>G	uc002mfm.3	-	14	1907	c.1845_splice	c.e14+1	p.K615_splice		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	615					G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ACTGGCCCTTACCTTACTCTG	0.627													26	181					0	0	1	0	0	G	6709693	A	G	6709693	5	3	261	1	0	0	0	0	0	0	1	0	2204	405	14	3	3256	3	C3	19	6709693	Splice_Site	SNP	A	TCGA-HW-7489-01A-11D-2024-08		6709693	52419290	22	11382											
CYP4F22	126410	broad.mit.edu	37	chr19	15648459	15648459	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaagatcttcaaccagagcGctgacattatgcatgtgagt	12	11	10	8	1	2	5	1	3	1	2	2	5	2	5	1	0	3	2	1	0	3	2			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr19:15648459G>A	uc002nbh.4	+	5	702	c.535G>A	c.(535-537)Gct>Act	p.A179T		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	179						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CAACCAGAGCGCTGACATTAT	0.547													5	144					0	0	1	0	0	A	15648459	G	A	15648459	3	1	261	1	0	0	0	0	1	0	0	0	4189	1087	38	1	549	1	CYP4F22	19	15648459	Missense_Mutation	SNP	G	TCGA-HW-7489-01A-11D-2024-08	8938766	15648459	43480524	23	11383											
SIM2	6493	broad.mit.edu	37	chr21	38098527	38098527	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccgtgggccagtcgctGccacccagtgccatcaccga	6	6	13	16	3	1	0	1	0	0	0	2	1	1	0	6	2	2	1	6	2	0	0			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr21:38098527G>A	uc002yvr.2	+	5	707	c.651G>A	c.(649-651)ctG>ctA	p.L217L	SIM2_uc002yvq.3_Silent_p.L217L	NM_005069	NP_005060	Q14190	SIM2_HUMAN	Homo sapiens single-minded homolog 2 (Drosophila) (SIM2), transcript variant SIM2, mRNA.	217					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GCCAGTCGCTGCCACCCAGTG	0.542													26	61					0	0	1	0	0	A	38098527	G	A	38098527	2	1	261	1	0	0	0	0	0	0	0	1	14324	1306	46	3		3	SIM2	21	38098527	Silent	SNP	G	TCGA-HW-7489-01A-11D-2024-08		38098527	10031368	24	11384											
PRR5-ARHGAP8	553158	broad.mit.edu	37	chr22	45221460	45221460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccacacagcagtttggcGtcagtctgcaatagtaagtg	10	10	11	10	1	2	0	1	0	1	0	2	0	2	0	1	1	3	4	1	1	3	3	rs140257857		TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr22:45221460G>A	uc003bfd.3	+	11	1490	c.1213G>A	c.(1213-1215)Gtc>Atc	p.V405I	PRR5-ARHGAP8_uc011aqi.2_Missense_Mutation_p.V317I|PRR5-ARHGAP8_uc011aqj.2_Missense_Mutation_p.V231I|PRR5-ARHGAP8_uc003bfi.3_Missense_Mutation_p.V195I|PRR5-ARHGAP8_uc010gzv.3_Missense_Mutation_p.V195I|PRR5-ARHGAP8_uc003bfj.3_Missense_Mutation_p.V226I|PRR5-ARHGAP8_uc003bfk.3_Missense_Mutation_p.V195I|PRR5-ARHGAP8_uc003bfl.3_Non-coding_Transcript	NM_181335	NP_851852			Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA.											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						GCAGTTTGGCGTCAGTCTGCA	0.642													3	28					0	0	1	0	0	A	45221460	G	A	45221460	3	1	261	1	0	0	0	0	1	0	0	0	12601	1145	40	1	987	1	PRR5-ARHGAP8	22	45221460	Missense_Mutation	SNP	G	TCGA-HW-7489-01A-11D-2024-08		45221460	6083106	25	11385											
FRMPD4	9758	broad.mit.edu	37	chrX	12734264	12734264	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatgaccacctttattggCgaaggggaacaagaagccca	15	6	10	10	1	0	2	0	1	0	1	0	4	0	3	3	3	2	0	3	3	6	3			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chrX:12734264C>T	uc004cuz.2	+	14	2192	c.1686C>T	c.(1684-1686)ggC>ggT	p.G562G	FRMPD4_uc011mij.2_Silent_p.G554G	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	562					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCTTTATTGGCGAAGGGGAAC	0.468													9	75					0	0	1	0	0	T	12734264	C	T	12734264	2	4	261	1	0	0	0	0	0	0	0	1	6059	755	27	1		1	FRMPD4	23	12734264	Silent	SNP	C	TCGA-HW-7489-01A-11D-2024-08		12734264	142536296	26	11386											
ATRX	546	broad.mit.edu	37	chrX	76938654	76938655	+	Frame_Shift_Ins	INS	-	-	T																															cagaagaattacgcttatccINSttttttctcactggaactga																										TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chrX:76938654_76938655insT	uc004ecp.4	-	8	2325_2326	c.2093_2094insA	c.(2092-2094)aagfs	p.K698fs	ATRX_uc004ecq.4_Frame_Shift_Ins_p.K660fs|ATRX_uc004eco.4_Frame_Shift_Ins_p.K483fs|ATRX_uc004ecr.2_Frame_Shift_Ins_p.K630fs|ATRX_uc010nlx.1_Frame_Shift_Ins_p.K669fs|ATRX_uc010nly.1_Frame_Shift_Ins_p.K643fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	698					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.K697R(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TACGCTTATCCTTTTTTCTCAC	0.356			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						77	55	---	---	---	---						T	76938655	-	T	76938654	7	5	261	1	0	1	1	0	0	0	0	0	1208	680	24	0	5492	0	ATRX	23	76938654	Frame_Shift_Ins	INS	-	TCGA-HW-7489-01A-11D-2024-08	64204390	76938654	78331906	27	11387											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17961457	17961457	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctatgacaaggacaatGtgctcatccagcactcaggc	12	7	9	13	0	2	1	2	1	0	0	3	2	3	2	2	2	2	3	2	2	3	1			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:17961457G>C	uc001ban.3	+	17	2032	c.1873G>C	c.(1873-1875)Gtg>Ctg	p.V625L	ARHGEF10L_uc009vpe.1_Missense_Mutation_p.V586L|ARHGEF10L_uc001bao.3_Missense_Mutation_p.V586L|ARHGEF10L_uc001bap.3_Missense_Mutation_p.V581L|ARHGEF10L_uc010ocr.1_Missense_Mutation_p.V383L|ARHGEF10L_uc001baq.3_Missense_Mutation_p.V386L|ARHGEF10L_uc010ocs.2_Missense_Mutation_p.V398L|ARHGEF10L_uc001bar.3_Missense_Mutation_p.V328L|ARHGEF10L_uc009vpf.3_Non-coding_Transcript	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	625					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CAAGGACAATGTGCTCATCCA	0.642													3	43					0	0	0.00024832	0	0	C	17961457	G	C	17961457	3	2	262	1	0	0	0	0	1	0	0	0	895	1377	48	5	1939	5	ARHGEF10L	1	17961457	Missense_Mutation	SNP	G	TCGA-HW-7490-01A-11D-2024-08		17961457	231289164	1	11388											
ARID1A	8289	broad.mit.edu	37	chr1	27057848	27057848	+	Frame_Shift_Del	DEL	C	C	-																															gtcctctcagcctccatactCccagcagccatcccagcctc																										TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:27057848delC	uc001bmv.1	+	2	1929	c.1556delC	c.(1555-1557)tccfs	p.S519fs	ARID1A_uc001bmt.1_Frame_Shift_Del_p.S519fs|ARID1A_uc001bmu.1_Frame_Shift_Del_p.S519fs|ARID1A_uc001bmw.1_Frame_Shift_Del_p.S136fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	519					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTCCATACTCCCAGCAGCCA	0.632			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								25	245	---	---	---	---						-	27057848	C	-	27057848	7	5	262	1	0	1	0	1	0	0	0	0	913	855	30	0	1566	0	ARID1A	1	27057848	Frame_Shift_Del	DEL	C	TCGA-HW-7490-01A-11D-2024-08	9096391	27057848	222192773	2	11389											
S1PR1	1901	broad.mit.edu	37	chr1	101705575	101705575	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaattcaagcgacccatcatCgccggcatggaattcagccg	12	7	9	13	4	3	0	3	0	0	0	4	2	3	1	3	2	2	1	3	2	3	2			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:101705575C>T	uc021oqt.1	+	0	1035	c.1035C>T	c.(1033-1035)atC>atT	p.I345I	S1PR1_uc001dud.2_Silent_p.I345I|S1PR1_uc009weg.2_Silent_p.I345I	NM_001400	NP_001391	P21453	S1PR1_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 1 (S1PR1), mRNA.	345					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GACCCATCATCGCCGGCATGG	0.557													7	154					0	0	0.00198382	0	0	T	101705575	C	T	101705575	2	4	262	1	0	0	0	0	0	0	0	1	13793	874	31	2		2	S1PR1	1	101705575	Silent	SNP	C	TCGA-HW-7490-01A-11D-2024-08	74647727	101705575	147545046	3	11390											
ASPM	259266	broad.mit.edu	37	chr1	197070598	197070599	+	Frame_Shift_Del	DEL	TC	TC	-																															ttcattgtgttgaaatacttTctgtttctttttatttgctc																								rs144088344	by1000genomes	TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:197070598_197070599delTC	uc001gtu.3	-	17	8039_8040	c.7782_7783delGA	c.(7780-7785)cagaaafs	p.Q2594fs	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Frame_Shift_Del_p.Q442fs	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	2594					mitosis	cytoplasm|nucleus	calmodulin binding	p.Q2594Q(2)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGAAATACTTTCTGTTTCTTTT	0.356													12	33	---	---	---	---						-	197070599	TC	-	197070598	7	5	262	1	0	1	0	1	0	0	0	0	1056	1792	62	0	2694	0	ASPM	1	197070598	Frame_Shift_Del	DEL	TC	TCGA-HW-7490-01A-11D-2024-08	95365023	197070598	52180023	4	11391											
USH2A	7399	broad.mit.edu	37	chr1	215914869	215914869	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaacatcctactgctaacTccacaacttccttgaaaaaa	17	9	2	13	0	0	1	0	1	0	0	3	1	3	1	3	0	5	1	3	0	7	4			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:215914869T>C	uc001hku.1	-	59	11946	c.11559A>G	c.(11557-11559)ggA>ggG	p.G3853G		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3853	Fibronectin type-III 23.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TACTGCTAACTCCACAACTTC	0.358										HNSCC(13;0.011)			7	63					0	0	0.000442599	0	0	C	215914869	T	C	215914869	2	2	262	1	0	0	0	0	0	0	0	1	17033	1538	54	4		4	USH2A	1	215914869	Silent	SNP	T	TCGA-HW-7490-01A-11D-2024-08	18844271	215914869	33335752	5	11392											
OR2M5	127059	broad.mit.edu	37	chr1	248308952	248308952	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcgacattttccttctcctActgtgggtctcgggaaatag	8	13	10	10	2	2	0	0	0	2	0	5	2	3	1	2	2	2	0	2	2	3	5			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:248308952A>G	uc010pze.2	+	0	503	c.503A>G	c.(502-504)tAc>tGc	p.Y168C		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S167S(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TCCTTCTCCTACTGTGGGTCT	0.443													12	318					0	0	0.00185496	0	0	G	248308952	A	G	248308952	3	3	262	1	0	0	0	0	1	0	0	0	11013	391	14	3	505	3	OR2M5	1	248308952	Missense_Mutation	SNP	A	TCGA-HW-7490-01A-11D-2024-08	32394083	248308952	941669	6	11393											
OR2M7	391196	broad.mit.edu	37	chr1	248487368	248487368	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatttcccgagacccacagTaggagaaggaaaatgtcgct	13	8	10	10	2	0	2	0	0	0	2	2	5	1	3	2	2	0	2	2	2	5	3			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:248487368T>C	uc010pzk.2	-	0	503	c.503A>G	c.(502-504)tAc>tGc	p.Y168C		NM_001004691	NP_001004691	Q8NG81	OR2M7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 7 (OR2M7), mRNA.	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S167S(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGACCCACAGTAGGAGAAGGA	0.448													108	174					0	0	0.000781405	0	0	C	248487368	T	C	248487368	3	2	262	1	0	0	0	0	1	0	0	0	11014	1638	57	3	438	3	OR2M7	1	248487368	Missense_Mutation	SNP	T	TCGA-HW-7490-01A-11D-2024-08	178416	248487368	763253	7	11394											
ELMOD3	84173	broad.mit.edu	37	chr2	85617291	85617291	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcagcagaaggtcatcccCgtggtgaacagcttctatgc	9	8	12	12	2	2	2	1	1	1	1	3	2	3	2	2	3	4	3	2	3	3	2			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr2:85617291C>T	uc010ysn.2	+	10	1188	c.846C>T	c.(844-846)ccC>ccT	p.P282P	ELMOD3_uc002spf.4_Silent_p.P282P|ELMOD3_uc002spg.4_Silent_p.P282P|ELMOD3_uc002sph.4_Silent_p.P282P|ELMOD3_uc010yso.2_Non-coding_Transcript|ELMOD3_uc010ysp.2_Non-coding_Transcript|ELMOD3_uc021vjy.1_Silent_p.P51P	NM_032213	NP_115589	Q96FG2	ELMD3_HUMAN	Homo sapiens ELMO/CED-12 domain containing 3 (ELMOD3), transcript variant 1, mRNA.	282	ELMO.				phagocytosis	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						AGGTCATCCCCGTGGTGAACA	0.567													23	40					0	0	0.000720815	0	0	T	85617291	C	T	85617291	2	4	262	1	0	0	0	0	0	0	0	1	5070	639	23	2		2	ELMOD3	2	85617291	Silent	SNP	C	TCGA-HW-7490-01A-11D-2024-08		85617291	157582082	8	11395											
GPR39	2863	broad.mit.edu	37	chr2	133175296	133175296	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtccagcatcttcggcgcCttcgtggtctacctcgtggt	4	12	11	14	4	2	0	0	0	2	0	6	0	3	0	3	3	2	1	3	3	1	3			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr2:133175296C>T	uc002ttl.3	+	0	1150	c.681C>T	c.(679-681)gcC>gcT	p.A227A		NM_001508	NP_001499	O43194	GPR39_HUMAN	Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA.	227						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTTCGGCGCCTTCGTGGTCT	0.612													30	46					0	0	0.001512	0	0	T	133175296	C	T	133175296	2	4	262	1	0	0	0	0	0	0	0	1	6693	668	24	3		3	GPR39	2	133175296	Silent	SNP	C	TCGA-HW-7490-01A-11D-2024-08	47558005	133175296	110024077	9	11396											
TANK	10010	broad.mit.edu	37	chr2	162087893	162087893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacaactgacaaaacaaagcCctcaaatctcgtaaacactt	19	7	3	12	1	2	1	1	1	1	0	3	1	2	1	1	0	5	1	1	0	8	2			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr2:162087893C>T	uc002ubs.3	+	6	1040	c.932C>T	c.(931-933)cCc>cTc	p.P311L	TANK_uc002ubr.2_Missense_Mutation_p.P311L	NM_001199135	NP_001186064	Q92844	TANK_HUMAN	Homo sapiens TRAF family member-associated NFKB activator (TANK), transcript variant 3, mRNA.	311						cytosol	metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						AAAACAAAGCCCTCAAATCTC	0.383													9	106					0	0	0.000673444	0	0	T	162087893	C	T	162087893	3	4	262	1	0	0	0	0	1	0	0	0	15543	623	22	3	987	3	TANK	2	162087893	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08	28912597	162087893	81111480	10	11397											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								19	53					0	0	0.00229938	0	0	T	209113112	C	T	209113112	3	4	262	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08	47025219	209113112	34086261	11	11398											
CCDC108	255101	broad.mit.edu	37	chr2	219868814	219868814	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagctcactttctcttcCttctcatccctctcctcctc	3	15	2	21	0	4	0	2	0	3	0	11	0	7	0	5	0	1	1	5	0	0	3	rs73089095	byFrequency	TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr2:219868814C>T	uc002vjl.1	-	32	5499	c.5415G>A	c.(5413-5415)aaG>aaA	p.K1805K	MIR375_uc010fvz.1_5'Flank	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1805	Glu-rich.					integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTTctcttccttctcatccc	0.557													5	121					0	0	0.000602214	0	0	T	219868814	C	T	219868814	2	4	262	1	0	0	0	0	0	0	0	1	2743	680	24	3		3	CCDC108	2	219868814	Silent	SNP	C	TCGA-HW-7490-01A-11D-2024-08	10755702	219868814	23330559	12	11399											
SLC6A11	6538	broad.mit.edu	37	chr3	10885932	10885932	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatctctgacgggatcgaGcacatcgggaaccttcgctg	8	8	12	13	4	1	1	0	1	1	0	5	4	1	3	2	2	2	2	2	2	1	1			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr3:10885932G>C	uc003bvz.3	+	4	691	c.657G>C	c.(655-657)gaG>gaC	p.E219D		NM_014229	NP_055044	P48066	S6A11_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 11 (SLC6A11), mRNA.	219					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		ACGGGATCGAGCACATCGGGA	0.587													3	41					0	0	0.00024832	0	0	C	10885932	G	C	10885932	3	2	262	1	0	0	0	0	1	0	0	0	14674	962	34	5	675	5	SLC6A11	3	10885932	Missense_Mutation	SNP	G	TCGA-HW-7490-01A-11D-2024-08		10885932	187136498	13	11400											
AMOTL2	51421	broad.mit.edu	37	chr3	134078153	134078155	+	In_Frame_Del	DEL	TGT	TGT	-																															agccgagcaggggcgtctgcTgtttgtcgctcactagaaga																										TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr3:134078153_134078155delTGT	uc003eqf.2	-	7	2365_2367	c.2248_2250delACA	c.(2248-2250)acadel	p.T750del	AMOTL2_uc003eqg.1_In_Frame_Del_p.T692del|AMOTL2_uc003eqh.1_In_Frame_Del_p.T690del|AMOTL2_uc003eqe.1_In_Frame_Del_p.T317del	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	Homo sapiens angiomotin like 2 (AMOTL2), mRNA.	692										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GGGCGTCTGCTGTTTGTCGCTCA	0.596													21	67	---	---	---	---						-	134078155	TGT	-	134078153	7	5	262	1	0	1	0	1	0	0	0	0	584	1567	55	0	278	0	AMOTL2	3	134078153	In_Frame_Del	DEL	TGT	TCGA-HW-7490-01A-11D-2024-08	123192221	134078153	63944277	14	11401											
MAN2B2	23324	broad.mit.edu	37	chr4	6612960	6612960	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcgccagaggagcgcaCtggcgctgcagcacaggccc	7	3	14	17	3	0	1	0	0	0	1	0	2	0	2	3	3	4	4	3	3	0	0			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr4:6612960C>T	uc003gjf.1	+	14	2554	c.2518C>T	c.(2518-2520)Ctg>Ttg	p.L840L	MAN2B2_uc003gje.1_Silent_p.L840L|MAN2B2_uc011bwf.1_Silent_p.L789L	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	840					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GAGGAGCGCACTGGCGCTGCA	0.627													15	21					0	0	0.000308642	0	0	T	6612960	C	T	6612960	2	4	262	1	0	0	0	0	0	0	0	1	9217	564	20	3		3	MAN2B2	4	6612960	Silent	SNP	C	TCGA-HW-7490-01A-11D-2024-08		6612960	184541316	15	11402											
SLIT2	9353	broad.mit.edu	37	chr4	20598163	20598163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaatatgtcagtgtttgcCtggctatcagggagaaaagt	11	11	12	7	0	2	1	2	0	0	1	2	2	2	1	2	2	1	2	2	2	5	3			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr4:20598163C>T	uc003gpr.1	+	31	3650	c.3446C>T	c.(3445-3447)cCt>cTt	p.P1149L	SLIT2_uc003gps.1_Missense_Mutation_p.P1141L	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1149	EGF-like 6.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CAGTGTTTGCCTGGCTATCAG	0.433													4	66					0	0	0.00024832	0	0	T	20598163	C	T	20598163	3	4	262	1	0	0	0	0	1	0	0	0	14740	681	24	3	3572	3	SLIT2	4	20598163	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08	13985203	20598163	170556113	16	11403											
COL25A1	84570	broad.mit.edu	37	chr4	109805344	109805344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtatttacctttatccccGgaagtccaggaagcccagga	11	9	9	12	1	0	0	0	0	0	0	2	3	2	3	5	3	2	1	5	3	5	5			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr4:109805344G>A	uc021xqo.1	-	17	1066	c.1010C>T	c.(1009-1011)cCg>cTg	p.P337L	COL25A1_uc003hze.1_Missense_Mutation_p.P337L|COL25A1_uc021xqp.1_Missense_Mutation_p.P337L|COL25A1_uc003hzg.3_Missense_Mutation_p.P337L|COL25A1_uc003hzd.3_Non-coding_Transcript|COL25A1_uc003hzf.3_Missense_Mutation_p.P118L	NM_198721	NP_942014	Q9BXS0	COPA1_HUMAN	Homo sapiens collagen, type XXV, alpha 1 (COL25A1), transcript variant 1, mRNA.	337	Collagen-like 4.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTTTATCCCCGGAAGTCCAGG	0.413													21	43					0	0	0.00278032	0	0	A	109805344	G	A	109805344	3	1	262	1	0	0	0	0	1	0	0	0	3684	1116	39	2	1118	2	COL25A1	4	109805344	Missense_Mutation	SNP	G	TCGA-HW-7490-01A-11D-2024-08	89207181	109805344	81348932	17	11404											
KLKB1	3818	broad.mit.edu	37	chr4	187158067	187158067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtttttttcatatgccaCgcaaacatttcacaaggcag	12	12	6	11	1	2	0	2	0	0	0	2	0	2	0	2	1	2	3	2	1	3	5			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr4:187158067C>T	uc003iyy.3	+	4	532	c.461C>T	c.(460-462)aCg>aTg	p.T154M	KLKB1_uc011clc.2_5'UTR|KLKB1_uc011cld.2_Missense_Mutation_p.T116M	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	154	Apple 2.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TCATATGCCACGCAAACATTT	0.408													5	58					0	0	0.00198382	0	0	T	187158067	C	T	187158067	3	4	262	1	0	0	0	0	1	0	0	0	8412	536	19	1	475	1	KLKB1	4	187158067	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08	77352723	187158067	3996209	18	11405											
TNIP1	10318	broad.mit.edu	37	chr5	150425452	150425454	+	In_Frame_Del	DEL	CTT	CTT	-																															tgctgctccagcatcttcacCttcttctcggctgcgcccaa																										TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr5:150425452_150425454delCTT	uc003lti.3	-	8	1145_1147	c.904_906delAAG	c.(904-906)aagdel	p.K302del	TNIP1_uc010jhq.2_In_Frame_Del_p.K249del|TNIP1_uc010jho.2_Non-coding_Transcript|TNIP1_uc010jhp.2_In_Frame_Del_p.K249del|TNIP1_uc010jhl.3_Non-coding_Transcript|TNIP1_uc010jhn.3_In_Frame_Del_p.K302del|TNIP1_uc010jhm.3_In_Frame_Del_p.K302del|TNIP1_uc010jhr.2_In_Frame_Del_p.K302del|TNIP1_uc011dco.2_In_Frame_Del_p.K302del|TNIP1_uc003ltg.3_In_Frame_Del_p.K249del|TNIP1_uc003ltk.3_In_Frame_Del_p.K302del|TNIP1_uc003ltj.3_In_Frame_Del_p.K302del|TNIP1_uc021ygb.1_In_Frame_Del_p.K302del	NM_006058	NP_006049	Q15025	TNIP1_HUMAN	Homo sapiens TNFAIP3 interacting protein 1 (TNIP1), transcript variant 5, mRNA.	302	Interacts with Nef.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCATCTTCACCTTCTTCTCGGCT	0.601													14	96	---	---	---	---						-	150425454	CTT	-	150425452	7	5	262	1	0	1	0	1	0	0	0	0	16311	680	24	0	1044	0	TNIP1	5	150425452	In_Frame_Del	DEL	CTT	TCGA-HW-7490-01A-11D-2024-08		150425452	30489808	19	11406											
SCAND3	114821	broad.mit.edu	37	chr6	28540794	28540794	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatttaaattccaaaccacAtttgttaacaatataattct	18	15	1	7	0	1	0	0	0	1	0	2	0	2	0	2	0	2	1	2	0	8	8			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr6:28540794A>G	uc003nlo.3	-	3	3490	c.2872T>C	c.(2872-2874)Tgt>Cgt	p.C958R		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	958					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						tccaaaccacatttgttaaca	0.353													9	45					0	0	0.000274275	0	0	G	28540794	A	G	28540794	3	3	262	1	0	0	0	0	1	0	0	0	13876	217	8	3	1109	3	SCAND3	6	28540794	Missense_Mutation	SNP	A	TCGA-HW-7490-01A-11D-2024-08		28540794	142574273	20	11407											
KIAA1009	22832	broad.mit.edu	37	chr6	84896099	84896100	+	Frame_Shift_Ins	INS	-	-	A																															tgaagaattaacagttatttINSttttcctcaaaatattaagg																										TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr6:84896099_84896100insA	uc010kbp.3	-	11	1448_1449	c.1351_1352insT	c.(1351-1353)aaafs	p.K451fs	KIAA1009_uc003pkj.4_Frame_Shift_Ins_p.K375fs|KIAA1009_uc003pkk.2_Frame_Shift_Ins_p.K451fs|KIAA1009_uc003pki.4_5'UTR	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	451					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		AACAGTTATTTTTTTCCTCAAA	0.307													19	54	---	---	---	---						A	84896100	-	A	84896099	7	5	262	1	0	1	1	0	0	0	0	0	8203	1841	64	0	2923	0	KIAA1009	6	84896099	Frame_Shift_Ins	INS	-	TCGA-HW-7490-01A-11D-2024-08	56355305	84896099	86218968	21	11408	39	2									
KIAA1009	22832	broad.mit.edu	37	chr6	84896105	84896105	+	Missense_Mutation	SNP	C	C	A																															aattaacagttatttttttcCtcaaaatattaaggtacatt																										TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr6:84896105C>A	uc010kbp.3	-	11	1443	c.1346G>T	c.(1345-1347)aGg>aTg	p.R449M	KIAA1009_uc003pkj.4_Missense_Mutation_p.R373M|KIAA1009_uc003pkk.2_Missense_Mutation_p.R449M|KIAA1009_uc003pki.4_5'UTR	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	449					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TATTTTTTTCCTCAAAATATT	0.308													24	56					9.95505e-16	3.60667e-15	0.00229938	1	0	A	84896105	C	A	84896105	3	1	262	1	0	0	0	0	1	0	0	0	8203	681	24	5	2929	5	KIAA1009	6	84896105	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08	6	84896105	86218962	22	11409	39	2									
GTPBP10	85865	broad.mit.edu	37	chr7	89982254	89982254	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgtagcccagaacagaaTgactttaaaacaacttaaag	17	9	8	7	0	0	3	0	1	0	2	0	3	0	3	1	1	4	2	1	1	8	5			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr7:89982254T>C	uc003ukm.2	+	1	235	c.158T>C	c.(157-159)aTg>aCg	p.M53T	GTPBP10_uc003ukl.1_Non-coding_Transcript|GTPBP10_uc003uki.1_Missense_Mutation_p.M70T|GTPBP10_uc003ukj.1_Missense_Mutation_p.M44T|GTPBP10_uc003ukk.1_Non-coding_Transcript|GTPBP10_uc003ukn.2_Missense_Mutation_p.M53T|GTPBP10_uc003uko.2_5'UTR	NM_033107	NP_149098	A4D1E9	GTPBA_HUMAN	Homo sapiens GTP-binding protein 10 (putative) (GTPBP10), transcript variant 2, mRNA.	53					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						CAGAACAGAATGACTTTAAAA	0.443													4	56					0	0	0.000602214	0	0	C	89982254	T	C	89982254	3	2	262	1	0	0	0	0	1	0	0	0	6879	1464	51	3	164	3	GTPBP10	7	89982254	Missense_Mutation	SNP	T	TCGA-HW-7490-01A-11D-2024-08		89982254	69156409	23	11410											
CDK14	5218	broad.mit.edu	37	chr7	90613505	90613505	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgatccaaggagttgcTgcttttccaggaatgaaaga	14	10	11	6	0	0	3	0	2	0	1	2	6	2	5	2	2	2	3	2	2	4	3			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr7:90613505T>A	uc003uky.2	+	9	1212	c.990T>A	c.(988-990)gcT>gcA	p.A330A	CDK14_uc003ukz.1_Silent_p.A312A|CDK14_uc010les.1_Silent_p.A284A|CDK14_uc011khl.1_Silent_p.A201A	NM_012395	NP_036527	O94921	CDK14_HUMAN	Homo sapiens cyclin-dependent kinase 14 (CDK14), mRNA.	330	Protein kinase.				G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|regulation of canonical Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity	p.L329L(1)		breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						AAGGAGTTGCTGCTTTTCCAG	0.348													38	100					0	0	0.00148497	0	0	A	90613505	T	A	90613505	2	1	262	1	0	0	0	0	0	0	0	1	3130	1567	55	5		5	CDK14	7	90613505	Silent	SNP	T	TCGA-HW-7490-01A-11D-2024-08	631251	90613505	68525158	24	11411											
CYP3A7	1551	broad.mit.edu	37	chr7	99312223	99312224	+	Frame_Shift_Del	DEL	TT	TT	-																															tcttttatctgttttacagaTtttgttagaaaacttataac																										TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr7:99312223_99312224delTT	uc003uru.3	-	7	855_856	c.752_753delAA	c.(751-753)aaafs	p.K251fs	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 7 (CYP3A7), mRNA.	251					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					GTTTTACAGATTTTGTTAGAAA	0.312													19	90	---	---	---	---						-	99312224	TT	-	99312223	7	5	262	1	0	1	0	1	0	0	0	0	4181	1490	52	0	782	0	CYP3A7	7	99312223	Frame_Shift_Del	DEL	TT	TCGA-HW-7490-01A-11D-2024-08	8698718	99312223	59826440	25	11412											
GIGYF1	64599	broad.mit.edu	37	chr7	100280314	100280314	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccaggccgctgctgccGcccccactcttgtctggccc	3	7	10	21	2	2	0	0	0	2	0	2	0	2	0	7	2	3	2	7	2	0	1			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr7:100280314G>A	uc003uwg.1	-	19	3508	c.2499C>T	c.(2497-2499)ggC>ggT	p.G833G		NM_022574	NP_072096	O75420	PERQ1_HUMAN	Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA.	833										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CGCTGCTGCCGCCCCCACTCT	0.697													5	16					0	0	0.00198382	0	0	A	100280314	G	A	100280314	2	1	262	1	0	0	0	0	0	0	0	1	6377	1074	38	1		1	GIGYF1	7	100280314	Silent	SNP	G	TCGA-HW-7490-01A-11D-2024-08	968091	100280314	58858349	26	11413											
XKR9	389668	broad.mit.edu	37	chr8	71646066	71646066	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttgctgtgctatttctTggtcaactgttgattatcaa	7	19	7	8	0	4	1	2	1	2	0	5	1	4	1	0	1	3	3	0	1	4	6			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr8:71646066T>C	uc003xyq.3	+	4	1063	c.529T>C	c.(529-531)Tgg>Cgg	p.W177R	XKR9_uc010lzd.3_Missense_Mutation_p.W45R|XKR9_uc010lze.3_Missense_Mutation_p.W177R	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 9 (XKR9), mRNA.	177						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TGCTATTTCTTGGTCAACTGT	0.299													5	47					0	0	0.00116845	0	0	C	71646066	T	C	71646066	3	2	262	1	0	0	0	0	1	0	0	0	17435	1812	63	3	539	3	XKR9	8	71646066	Missense_Mutation	SNP	T	TCGA-HW-7490-01A-11D-2024-08		71646066	74717956	27	11414											
FAM82B	51115	broad.mit.edu	37	chr8	87498754	87498755	+	Frame_Shift_Del	DEL	TT	TT	-																															ttcatttttttctagtgctcTttttgcatactctagggctt																										TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr8:87498754_87498755delTT	uc003ydu.3	-	3	613_614	c.453_454delAA	c.(451-456)aaaagafs	p.K151fs	FAM82B_uc011lfz.2_Frame_Shift_Del_p.K151fs|FAM82B_uc011lga.2_Frame_Shift_Del_p.K151fs	NM_016033	NP_057117	Q96DB5	RMD1_HUMAN	Homo sapiens family with sequence similarity 82, member B (FAM82B), mRNA.	151						microtubule|spindle pole	binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						TCTAGTGCTCTTTTTGCATACT	0.396													7	60	---	---	---	---						-	87498755	TT	-	87498754	7	5	262	1	0	1	0	1	0	0	0	0	5632	1617	56	0	518	0	FAM82B	8	87498754	Frame_Shift_Del	DEL	TT	TCGA-HW-7490-01A-11D-2024-08	15852688	87498754	58865268	28	11415											
RUNX1T1	862	broad.mit.edu	37	chr8	93026829	93026829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctagtcccagaacgagggtgCgaactctttctcctatctcg	8	11	9	13	3	3	1	0	0	3	1	6	3	4	1	2	1	3	0	2	1	4	3			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr8:93026829C>T	uc022axs.1	-	3	810	c.623G>A	c.(622-624)cGc>cAc	p.R208H	RUNX1T1_uc003yfc.2_Missense_Mutation_p.R122H|RUNX1T1_uc010mam.3_Missense_Mutation_p.R122H|RUNX1T1_uc003yfe.2_Missense_Mutation_p.R112H|RUNX1T1_uc003yfd.3_Missense_Mutation_p.R149H|RUNX1T1_uc022axo.1_Missense_Mutation_p.R149H|RUNX1T1_uc010mao.3_Missense_Mutation_p.R122H|RUNX1T1_uc011lgi.2_Missense_Mutation_p.R160H|RUNX1T1_uc022axp.1_Missense_Mutation_p.R149H|RUNX1T1_uc022axq.1_Missense_Mutation_p.R149H|RUNX1T1_uc022axr.1_Missense_Mutation_p.R149H|RUNX1T1_uc022axt.1_Missense_Mutation_p.R149H|RUNX1T1_uc022axu.1_Missense_Mutation_p.R129H|RUNX1T1_uc022axv.1_Missense_Mutation_p.R149H|RUNX1T1_uc003yfb.2_Missense_Mutation_p.R112H|RUNX1T1_uc003yff.1_Missense_Mutation_p.R112H|RUNX1T1_uc003yfg.2_Missense_Mutation_p.R112H	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	149	TAFH.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R160H(1)|p.R112H(1)|p.R149H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AACGAGGGTGCGAACTCTTTC	0.507													12	83					0	0	0.00136819	0	0	T	93026829	C	T	93026829	3	4	262	1	0	0	0	0	1	0	0	0	13747	768	27	1	1404	1	RUNX1T1	8	93026829	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08	5528075	93026829	53337193	29	11416											
CDH17	1015	broad.mit.edu	37	chr8	95182644	95182644	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccagtcgttcattctcctgGacctcaaatacggttactgg	8	12	8	13	2	3	0	2	0	1	0	5	1	3	1	3	3	2	2	3	3	3	4			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr8:95182644G>A	uc003ygh.2	-	8	1172	c.1047C>T	c.(1045-1047)gtC>gtT	p.V349V	CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Silent_p.V349V	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	349	Cadherin 4.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CATTCTCCTGGACCTCAAATA	0.438													60	86					0	0	0.000781405	0	0	A	95182644	G	A	95182644	2	1	262	1	0	0	0	0	0	0	0	1	3102	1161	41	3		3	CDH17	8	95182644	Silent	SNP	G	TCGA-HW-7490-01A-11D-2024-08	2155815	95182644	51181378	30	11417											
RANBP6	26953	broad.mit.edu	37	chr9	6013101	6013102	+	Frame_Shift_Del	DEL	AG	AG	-																															cacattcatcctcatcttgcAgagacatctcaacctgttga																										TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr9:6013101_6013102delAG	uc003zjr.3	-	0	2539_2540	c.2506_2507delCT	c.(2506-2508)ctgfs	p.L836fs	RANBP6_uc011lmf.2_Frame_Shift_Del_p.L484fs|RANBP6_uc003zjs.3_3'UTR	NM_012416	NP_036548	O60518	RNBP6_HUMAN	Homo sapiens RAN binding protein 6 (RANBP6), transcript variant 1, mRNA.	836					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		CTCATCTTGCAGAGACATCTCA	0.337													24	99	---	---	---	---						-	6013102	AG	-	6013101	7	5	262	1	0	1	0	1	0	0	0	0	13031	188	7	0	814	0	RANBP6	9	6013101	Frame_Shift_Del	DEL	AG	TCGA-HW-7490-01A-11D-2024-08		6013101	135200330	31	11418											
UHRF2	115426	broad.mit.edu	37	chr9	6497275	6497278	+	Frame_Shift_Del	DEL	CAGT	CAGT	-																															gaattggagagctggtaagcCagtcagagtgatacgcagtt																										TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr9:6497275_6497278delCAGT	uc003zjy.3	+	10	2022_2025	c.1682_1685delCAGT	c.(1681-1686)ccagtcfs	p.P561fs	UHRF2_uc003zjz.3_Non-coding_Transcript|UHRF2_uc003zkb.3_Non-coding_Transcript	NM_152896	NP_690856	Q96PU4	UHRF2_HUMAN	Homo sapiens ubiquitin-like with PHD and ring finger domains 2 (UHRF2), mRNA.	561	Methyl-CpG binding and interaction with HDAC1.|YDG.				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		GCTGGTAAGCCAGTCAGAGTGATA	0.426													16	43	---	---	---	---						-	6497278	CAGT	-	6497275	7	5	262	1	0	1	0	1	0	0	0	0	16967	594	21	0	1724	0	UHRF2	9	6497275	Frame_Shift_Del	DEL	CAGT	TCGA-HW-7490-01A-11D-2024-08	484174	6497275	134716156	32	11419											
FAM78A	286336	broad.mit.edu	37	chr9	134136482	134136482	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaggtgttggtggccacCagccaggtggtgaagctctg	6	9	18	8	0	1	1	0	1	1	0	1	2	1	2	3	6	2	2	3	6	1	1			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr9:134136482C>T	uc004cak.3	-	1	919	c.579G>A	c.(577-579)ctG>ctA	p.L193L	FAM78A_uc004caj.3_Silent_p.L190L	NM_033387	NP_203745	Q5JUQ0	FA78A_HUMAN	Homo sapiens family with sequence similarity 78, member A (FAM78A), mRNA.	193										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		TGGTGGCCACCAGCCAGGTGG	0.617													27	44					0	0	0.00127121	0	0	T	134136482	C	T	134136482	2	4	262	1	0	0	0	0	0	0	0	1	5626	581	21	3		3	FAM78A	9	134136482	Silent	SNP	C	TCGA-HW-7490-01A-11D-2024-08	127639207	134136482	7076949	33	11420											
KIAA1274	27143	broad.mit.edu	37	chr10	72307126	72307126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagaaggaggtggacgcagCgctggacactgtcagcgaga	12	4	17	8	3	1	2	1	0	0	2	1	7	1	5	0	4	2	2	0	4	2	0			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr10:72307126C>T	uc001jrd.4	+	17	2467	c.2186C>T	c.(2185-2187)gCg>gTg	p.A729V	KIAA1274_uc001jre.4_Missense_Mutation_p.A20V	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	729										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						GTGGACGCAGCGCTGGACACT	0.617													29	53					0	0	0.00127121	0	0	T	72307126	C	T	72307126	3	4	262	1	0	0	0	0	1	0	0	0	8220	768	27	1	2252	1	KIAA1274	10	72307126	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08		72307126	63227621	34	11421											
NELL1	4745	broad.mit.edu	37	chr11	21135210	21135210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaccttcctgggttatatcGctgtgactgtgtcccaggat	7	13	10	11	1	0	1	0	1	0	0	3	2	2	2	3	2	1	2	3	2	3	3			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr11:21135210G>A	uc009yid.3	+	13	1613	c.1460G>A	c.(1459-1461)cGc>cAc	p.R487H	NELL1_uc010rdp.2_Missense_Mutation_p.R219H|NELL1_uc001mqe.3_Missense_Mutation_p.R459H|NELL1_uc001mqf.3_Missense_Mutation_p.R459H|NELL1_uc010rdo.2_Missense_Mutation_p.R402H	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	459	EGF-like 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GGGTTATATCGCTGTGACTGT	0.398													6	99					0	0	0.00116845	0	0	A	21135210	G	A	21135210	3	1	262	1	0	0	0	0	1	0	0	0	10333	1087	38	1	1426	1	NELL1	11	21135210	Missense_Mutation	SNP	G	TCGA-HW-7490-01A-11D-2024-08		21135210	113871306	35	11422											
OR4A15	81328	broad.mit.edu	37	chr11	55136122	55136122	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatattacactctcttaagActcagagtttggaagggaaa	14	12	8	7	0	3	2	2	0	1	2	4	4	3	4	0	2	1	1	0	2	5	4			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr11:55136122A>T	uc010rif.2	+	0	763	c.763A>T	c.(763-765)Act>Tct	p.T255S		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CTCTCTTAAGACTCAGAGTTT	0.438													62	74					0	0	0.000781405	0	0	T	55136122	A	T	55136122	3	4	262	1	0	0	0	0	1	0	0	0	11040	275	10	5	765	5	OR4A15	11	55136122	Missense_Mutation	SNP	A	TCGA-HW-7490-01A-11D-2024-08	34000912	55136122	79870394	36	11423											
OR5D16	390144	broad.mit.edu	37	chr11	55606760	55606760	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtttcaacacaatcaatcAtttcttctgtgagttatcct	10	17	5	9	0	5	1	3	1	2	0	6	1	6	1	1	1	1	2	1	1	4	4			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr11:55606760A>G	uc010rio.2	+	0	533	c.533A>G	c.(532-534)cAt>cGt	p.H178R		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				ACAATCAATCATTTCTTCTGT	0.423													5	52					0	0	0.000602214	0	0	G	55606760	A	G	55606760	3	3	262	1	0	0	0	0	1	0	0	0	11156	217	8	3	535	3	OR5D16	11	55606760	Missense_Mutation	SNP	A	TCGA-HW-7490-01A-11D-2024-08	470638	55606760	79399756	37	11424											
NPAS4	266743	broad.mit.edu	37	chr11	66192121	66192121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggtaatggggactgcaCgctcttggccctagcccagc	6	8	12	15	1	1	0	0	0	1	0	1	1	1	1	3	4	3	3	3	4	2	3	rs142965018	byFrequency	TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr11:66192121C>T	uc001ohx.1	+	6	1936	c.1760C>T	c.(1759-1761)aCg>aTg	p.T587M	NPAS4_uc010rpc.1_Missense_Mutation_p.T377M	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	587					transcription, DNA-dependent		DNA binding|signal transducer activity	p.T587T(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GGGGACTGCACGCTCTTGGCC	0.607													15	173					0	0	0.000308642	0	0	T	66192121	C	T	66192121	3	4	262	1	0	0	0	0	1	0	0	0	10565	536	19	1	1786	1	NPAS4	11	66192121	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08	10585361	66192121	68814395	38	11425											
MMP1	4312	broad.mit.edu	37	chr11	102666337	102666337	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaacacgatgtaagttgtaCtctaaaaaggccaataaatc	17	9	7	8	1	1	0	0	0	1	0	2	1	1	0	1	1	2	4	1	1	9	5			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr11:102666337C>T	uc001phi.2	-	5	769	c.626_splice	c.e5-1	p.E209_splice	LOC100288077_uc001phh.1_Intron|MMP1_uc010ruv.1_Splice_Site_p.E143_splice	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.	209	Metalloprotease.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		GTAAGTTGTACTCTAAAAAGG	0.368													11	29					0	0	0.000673444	0	0	T	102666337	C	T	102666337	5	4	262	1	0	0	0	0	0	0	1	0	9648	579	20	3	806	3	MMP1	11	102666337	Splice_Site	SNP	C	TCGA-HW-7490-01A-11D-2024-08	36474216	102666337	32340179	39	11426											
ZNF259	8882	broad.mit.edu	37	chr11	116656309	116656309	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcatctttctgaggagcaTgtgggttttccacaaaactg	10	13	9	9	0	3	1	1	1	2	0	4	2	4	2	1	2	2	2	1	2	2	3			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr11:116656309T>C	uc001ppp.3	-	5	659	c.626A>G	c.(625-627)cAt>cGt	p.H209R		NM_003904	NP_003895	O75312	ZPR1_HUMAN	Homo sapiens zinc finger protein 259 (ZNF259), mRNA.	209					cell proliferation|signal transduction	cytoplasm|nucleolus				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		CTGAGGAGCATGTGGGTTTTC	0.458													6	97					0	0	0.00116845	0	0	C	116656309	T	C	116656309	3	2	262	1	0	0	0	0	1	0	0	0	17798	1464	51	3	789	3	ZNF259	11	116656309	Missense_Mutation	SNP	T	TCGA-HW-7490-01A-11D-2024-08	13989972	116656309	18350207	40	11427											
GRIN2B	2904	broad.mit.edu	37	chr12	13716801	13716801	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtagcccttccttgtccCtgaagtagcgcttgtggtca	5	12	10	14	2	1	1	1	1	0	0	3	1	3	1	4	1	2	3	4	1	3	5			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr12:13716801C>T	uc001rbt.2	-	12	3550	c.3371G>A	c.(3370-3372)aGg>aAg	p.R1124K		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1124					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTCCTTGTCCCTGAAGTAGCG	0.617													20	25					0	0	0.00152264	0	0	T	13716801	C	T	13716801	3	4	262	1	0	0	0	0	1	0	0	0	6780	681	24	3	1087	3	GRIN2B	12	13716801	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08		13716801	120135094	41	11428											
KRT84	3890	broad.mit.edu	37	chr12	52777394	52777394	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttcttcttgaagccctctagGacatcctgcaggtggttcct	6	14	9	12	0	3	1	0	1	3	0	5	2	5	2	3	3	2	2	3	3	2	5			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr12:52777394G>A	uc001sah.1	-	1	783	c.735C>T	c.(733-735)gtC>gtT	p.V245V		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	Homo sapiens keratin 84 (KRT84), mRNA.	245	Coil 1B.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCCCTCTAGGACATCCTGCA	0.577													15	17					0	0	0.00074312	0	0	A	52777394	G	A	52777394	2	1	262	1	0	0	0	0	0	0	0	1	8498	1161	41	3		3	KRT84	12	52777394	Silent	SNP	G	TCGA-HW-7490-01A-11D-2024-08	39060593	52777394	81074501	42	11429											
ACAD10	80724	broad.mit.edu	37	chr12	112193513	112193513	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgattaaaatggtcgccccGtccatggcctcccgagtgat	9	10	10	12	3	0	2	0	2	0	0	3	3	2	2	5	2	0	0	5	2	2	1			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr12:112193513G>A	uc009zvx.3	+	20	3296	c.3096G>A	c.(3094-3096)ccG>ccA	p.P1032P	ACAD10_uc001tsq.3_Silent_p.P1001P|ACAD10_uc001tss.1_Non-coding_Transcript	NM_001136538	NP_001130010	Q6JQN1	ACD10_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.	1001							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TGGTCGCCCCGTCCATGGCCT	0.517													16	112					0	0	0.00074312	0	0	A	112193513	G	A	112193513	2	1	262	1	0	0	0	0	0	0	0	1	108	1132	40	1		1	ACAD10	12	112193513	Silent	SNP	G	TCGA-HW-7490-01A-11D-2024-08	59416119	112193513	21658382	43	11430											
FRY	10129	broad.mit.edu	37	chr13	32852686	32852686	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggggactccgaagaaaagGtaataaaagcctgttagaat	17	7	11	6	1	0	2	0	0	0	2	1	4	1	3	2	3	1	2	2	3	8	3			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr13:32852686G>C	uc001utx.3	+	58	8965	c.8469_splice	c.e58+1	p.K2823_splice	FRY_uc010tdw.2_Splice_Site|FRY_uc001utz.3_Splice_Site_p.K348_splice|FRY_uc010tdx.2_Splice_Site_p.K193_splice	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2823					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CGAAGAAAAGGTAATAAAAGC	0.443													16	95					0	0	0.000566183	0	0	C	32852686	G	C	32852686	5	2	262	1	0	0	0	0	0	0	1	0	6063	1275	44	5	8700	5	FRY	13	32852686	Splice_Site	SNP	G	TCGA-HW-7490-01A-11D-2024-08		32852686	82317192	44	11431											
GPX2	2877	broad.mit.edu	37	chr14	65406296	65406296	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcggaagggctctccctcCggccctatgaggaacttctc	6	9	11	15	3	2	1	0	1	2	0	6	3	3	3	3	4	1	1	3	4	3	2	rs17885748		TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr14:65406296C>T	uc021ruq.1	-	1	570	c.483G>A	c.(481-483)ccG>ccA	p.P161P	CHURC1-FNTB_uc010tsk.2_Intron|CHURC1-FNTB_uc010tsj.2_Intron|CHURC1-FNTB_uc010tsl.2_Intron|CHURC1-FNTB_uc010tsm.2_Intron|GPX2_uc001xhy.1_Non-coding_Transcript	NM_002083	NP_002074	P18283	GPX2_HUMAN	Homo sapiens glutathione peroxidase 2 (gastrointestinal) (GPX2), mRNA.	161					response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity			large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	GCTCTCCCTCCGGCCCTATGA	0.537													22	103					0	0	0.00229938	0	0	T	65406296	C	T	65406296	2	4	262	1	0	0	0	0	0	0	0	1	6740	639	23	2		2	GPX2	14	65406296	Silent	SNP	C	TCGA-HW-7490-01A-11D-2024-08		65406296	41943244	45	11432											
RAB27A	5873	broad.mit.edu	37	chr15	55497820	55497820	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtccacacaccgttccattCgcttcattatcaggtccaga	9	12	6	14	2	2	1	2	0	0	1	6	1	5	1	4	1	0	2	4	1	1	4	rs141362723	by1000genomes	TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr15:55497820C>T	uc002aco.3	-	6	782	c.551G>A	c.(550-552)cGa>cAa	p.R184Q	RAB27A_uc002acr.3_Missense_Mutation_p.R184Q|RAB27A_uc002acp.3_Missense_Mutation_p.R184Q|RAB27A_uc002acq.3_Missense_Mutation_p.R184Q	NM_183234	NP_899059	P51159	RB27A_HUMAN	Homo sapiens RAB27A, member RAS oncogene family (RAB27A), transcript variant 2, mRNA.	184					small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		CCGTTCCATTCGCTTCATTAT	0.463													63	77					0	0	0.000781405	0	0	T	55497820	C	T	55497820	3	4	262	1	0	0	0	0	1	0	0	0	12914	884	31	2	118	2	RAB27A	15	55497820	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08		55497820	47033572	46	11433											
BTBD1	53339	broad.mit.edu	37	chr15	83718894	83718895	+	Frame_Shift_Del	DEL	AA	AA	-																															tttgtctattgtatctagacAaagactagcaagctgaggtt																										TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr15:83718894_83718895delAA	uc002bjn.3	-	2	797_798	c.594_595delTT	c.(592-597)ctttgtfs	p.L198fs	BTBD1_uc002bjo.3_Frame_Shift_Del_p.L198fs	NM_025238	NP_079514	Q9H0C5	BTBD1_HUMAN	Homo sapiens BTB (POZ) domain containing 1 (BTBD1), transcript variant 1, mRNA.	198						cytoplasmic mRNA processing body|protein complex	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		GTATCTAGACAAAGACTAGCAA	0.312													9	51	---	---	---	---						-	83718895	AA	-	83718894	7	5	262	1	0	1	0	1	0	0	0	0	1537	130	5	0	877	0	BTBD1	15	83718894	Frame_Shift_Del	DEL	AA	TCGA-HW-7490-01A-11D-2024-08	28221074	83718894	18812498	47	11434											
HSDL1	83693	broad.mit.edu	37	chr16	84163854	84163854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttcagggcttctcgaattgGaaggtagatctcacgaccgc	9	10	11	11	3	3	1	2	0	2	1	5	4	3	2	1	3	0	2	1	3	3	4			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr16:84163854G>A	uc002fhk.2	-	3	587	c.403C>T	c.(403-405)Cca>Tca	p.P135S	HSDL1_uc010vnv.1_Intron	NM_031463	NP_113651	Q3SXM5	HSDL1_HUMAN	Homo sapiens hydroxysteroid dehydrogenase like 1 (HSDL1), transcript variant 1, mRNA.	135						mitochondrion	oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						TCTCGAATTGGAAGGTAGATC	0.473													16	141					0	0	0.000422831	0	0	A	84163854	G	A	84163854	3	1	262	1	0	0	0	0	1	0	0	0	7393	1174	41	3	601	3	HSDL1	16	84163854	Missense_Mutation	SNP	G	TCGA-HW-7490-01A-11D-2024-08		84163854	6190899	48	11435											
APRT	353	broad.mit.edu	37	chr16	88876924	88876924	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagcccagtccaagctcctgGgccagggaggggccaaagag	10	3	15	13	0	0	1	0	0	0	1	2	2	2	2	5	4	2	1	5	4	2	0			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr16:88876924G>A	uc002flv.3	-	2	263	c.228C>T	c.(226-228)gcC>gcT	p.A76A	APRT_uc002flw.3_Silent_p.A76A	NM_000485	NP_000476	P07741	APT_HUMAN	Homo sapiens adenine phosphoribosyltransferase (APRT), transcript variant 1, mRNA.	76					purine ribonucleoside salvage	cytosol|nucleus	AMP binding|adenine phosphoribosyltransferase activity|protein binding			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	CAAGCTCCTGGGCCAGGGAGG	0.637													3	22					0	0	6.4e-05	0	0	A	88876924	G	A	88876924	2	1	262	1	0	0	0	0	0	0	0	1	819	1219	43	3		3	APRT	16	88876924	Silent	SNP	G	TCGA-HW-7490-01A-11D-2024-08	4713070	88876924	1477829	49	11436											
PHF23	79142	broad.mit.edu	37	chr17	7139547	7139547	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggggaggcccaggaggTgggagtctatccccccgttc	5	7	16	13	1	1	0	0	0	1	0	3	3	2	3	5	6	0	1	5	6	1	2			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr17:7139547T>C	uc002gfa.3	-	3	926	c.699A>G	c.(697-699)ccA>ccG	p.P233P	DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.2_Silent_p.P166P|PHF23_uc010cma.3_Silent_p.P103P	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN	Homo sapiens PHD finger protein 23 (PHF23), mRNA.	233							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						GCCCAGGAGGTGGGAGTCTAT	0.552													39	76					0	0	0.0025221	0	0	C	7139547	T	C	7139547	2	2	262	1	0	0	0	0	0	0	0	1	11835	1683	59	3		3	PHF23	17	7139547	Silent	SNP	T	TCGA-HW-7490-01A-11D-2024-08		7139547	74055663	50	11437											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr17:7577120C>T	uc002gim.2	-	7	1012	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			27	3					0	0	0.00127121	0	0	T	7577120	C	T	7577120	3	4	262	1	0	0	0	0	1	0	0	0	16378	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08	437573	7577120	73618090	51	11438											
MYO18A	399687	broad.mit.edu	37	chr17	27430667	27430667	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccagatccaagcactccaGcagctcctccactgcctgtg	8	8	7	18	0	0	1	0	0	0	1	5	1	5	1	6	0	4	3	6	0	1	0			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr17:27430667G>C	uc002hdt.1	-	20	3615	c.3457C>G	c.(3457-3459)Ctg>Gtg	p.L1153V	MYO18A_uc010wbc.1_Missense_Mutation_p.L695V|MYO18A_uc002hds.2_Missense_Mutation_p.L695V|MYO18A_uc010csa.1_Missense_Mutation_p.L1153V|MYO18A_uc002hdu.1_Missense_Mutation_p.L1153V|MYO18A_uc010wbd.1_Missense_Mutation_p.L822V	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	1153	Myosin head-like.				DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			AAGCACTCCAGCAGCTCCTCC	0.667													3	44					0	0	6.4e-05	0	0	C	27430667	G	C	27430667	3	2	262	1	0	0	0	0	1	0	0	0	10065	962	34	5	2795	5	MYO18A	17	27430667	Missense_Mutation	SNP	G	TCGA-HW-7490-01A-11D-2024-08	19853547	27430667	53764543	52	11439											
KIF2B	84643	broad.mit.edu	37	chr17	51900882	51900882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaggagcagcgggaaaagcGcaggcggctgcagcaggaga	12	1	19	9	3	0	1	0	0	0	1	0	4	0	3	0	5	5	6	0	5	2	0			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr17:51900882G>A	uc002iua.2	+	0	644	c.488G>A	c.(487-489)cGc>cAc	p.R163H	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	163					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CGGGAAAAGCGCAGGCGGCTG	0.547													8	85					0	0	0.000442599	0	0	A	51900882	G	A	51900882	3	1	262	1	0	0	0	0	1	0	0	0	8298	1087	38	1	490	1	KIF2B	17	51900882	Missense_Mutation	SNP	G	TCGA-HW-7490-01A-11D-2024-08	24470215	51900882	29294328	53	11440											
AKAP8	10270	broad.mit.edu	37	chr19	15471767	15471769	+	In_Frame_Del	DEL	GAA	GAA	-																															tgagcagcctcgatcttcttGaagaagtgctcctggccaat																										TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr19:15471767_15471769delGAA	uc002nav.3	-	11	1487_1489	c.1417_1419delTTC	c.(1417-1419)ttcdel	p.F473del	AKAP8_uc010dzy.3_In_Frame_Del_p.F22del|AKAP8_uc010dzz.1_Non-coding_Transcript	NM_005858	NP_005849	O43823	AKAP8_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8 (AKAP8), mRNA.	473					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						CGATCTTCTTGAAGAAGTGCTCC	0.571													10	21	---	---	---	---						-	15471769	GAA	-	15471767	7	5	262	1	0	1	0	1	0	0	0	0	457	1281	45	0	671	0	AKAP8	19	15471767	In_Frame_Del	DEL	GAA	TCGA-HW-7490-01A-11D-2024-08		15471767	43657216	54	11441											
LENG9	94059	broad.mit.edu	37	chr19	54973460	54973461	+	Frame_Shift_Del	DEL	TG	TG	-																															ggtgcagctgccctggagacTgtagtgtactcagcccctcg																										TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr19:54973460_54973461delTG	uc010yez.2	-	0	1434_1435	c.1315_1316delCA	c.(1315-1317)cagfs	p.Q439fs		NM_198988	NP_945339	Q96B70	LENG9_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 9 (LENG9), mRNA.	439					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		CCCTGGAGACTGTAGTGTACTC	0.644													44	54	---	---	---	---						-	54973461	TG	-	54973460	7	5	262	1	0	1	0	1	0	0	0	0	8725	1580	55	0	193	0	LENG9	19	54973460	Frame_Shift_Del	DEL	TG	TCGA-HW-7490-01A-11D-2024-08	39501693	54973460	4155523	55	11442											
EPB41L1	2036	broad.mit.edu	37	chr20	34761743	34761745	+	In_Frame_Del	DEL	AGG	AGG	-																															ctctgaggtgaagaaagctcAggaggaggccccgcagcagc																										TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr20:34761743_34761745delAGG	uc002xfb.3	+	1	215_217	c.44_46delAGG	c.(43-48)caggag>cag	p.E17del	EPB41L1_uc002xeu.3_Intron|EPB41L1_uc010zvo.1_In_Frame_Del_p.E17del|EPB41L1_uc002xev.3_In_Frame_Del_p.E17del|EPB41L1_uc002xew.3_Intron|EPB41L1_uc002xex.3_Intron|EPB41L1_uc002xey.3_In_Frame_Del_p.E17del|EPB41L1_uc002xez.3_Intron	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	17					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity	p.E17K(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AAGAAAGCTCAGGAGGAGGCCCC	0.626													7	38	---	---	---	---						-	34761745	AGG	-	34761743	7	5	262	1	0	1	0	1	0	0	0	0	5152	188	7	0	46	0	EPB41L1	20	34761743	In_Frame_Del	DEL	AGG	TCGA-HW-7490-01A-11D-2024-08		34761743	28263777	56	11443											
USP9X	8239	broad.mit.edu	37	chrX	41088882	41088884	+	In_Frame_Del	DEL	AAG	AAG	-																															tggcttggagatgaacttgaAagaagaccatatactggcaa																										TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chrX:41088882_41088884delAAG	uc004dfb.3	+	42	7914_7916	c.7281_7283delAAG	c.(7279-7284)gaaaga>gaa	p.R2429del	USP9X_uc004dfc.3_In_Frame_Del_p.R2429del	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	2429					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	p.Q2429*(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATGAACTTGAAAGAAGACCATAT	0.404													15	35	---	---	---	---						-	41088884	AAG	-	41088882	7	5	262	1	0	1	0	1	0	0	0	0	17087	11	1	0	7447	0	USP9X	23	41088882	In_Frame_Del	DEL	AAG	TCGA-HW-7490-01A-11D-2024-08		41088882	114181678	57	11444											
ATRX	546	broad.mit.edu	37	chrX	76918976	76918977	+	Frame_Shift_Del	DEL	TA	TA	-																															caatttgtgccgcaaaagccTatgtctgtatcttggcttct																										TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chrX:76918976_76918977delTA	uc004ecp.4	-	11	4246_4247	c.4014_4015delTA	c.(4012-4017)cataggfs	p.H1338fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.H1300fs|ATRX_uc004eco.4_Frame_Shift_Del_p.H1123fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.H1270fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1338					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CGCAAAAGCCTATGTCTGTATC	0.356			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						21	5	---	---	---	---						-	76918977	TA	-	76918976	7	5	262	1	0	1	0	1	0	0	0	0	1208	1521	53	0	3559	0	ATRX	23	76918976	Frame_Shift_Del	DEL	TA	TCGA-HW-7490-01A-11D-2024-08	35830094	76918976	78351584	58	11445											
FRMD7	90167	broad.mit.edu	37	chrX	131214037	131214037	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attttcagaaaccttacttgTtttgacacatcagagaggag	13	13	8	7	0	2	3	2	1	0	2	2	5	2	4	1	1	2	1	1	1	2	6			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chrX:131214037T>C	uc004ewn.3	-	10	1225	c.1047A>G	c.(1045-1047)aaA>aaG	p.K349K	FRMD7_uc022cdy.1_Silent_p.K229K|FRMD7_uc011muy.2_Silent_p.K334K	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	349					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					ACCTTACTTGTTTTGACACAT	0.398													78	27					0	0	0.000781405	0	0	C	131214037	T	C	131214037	2	2	262	1	0	0	0	0	0	0	0	1	6055	1722	60	3		3	FRMD7	23	131214037	Silent	SNP	T	TCGA-HW-7490-01A-11D-2024-08	54295061	131214037	24056523	59	11446											
RPS4Y2	140032	broad.mit.edu	37	chrY	22930744	22930744	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggacaaagggaattccacaCctggtgactcatgatgctcg	11	8	12	10	1	1	2	1	2	0	0	3	4	2	4	2	3	1	1	2	3	2	1			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chrY:22930744C>A	uc011nbb.2	+	4	510	c.414C>A	c.(412-414)caC>caA	p.H138Q		NM_001039567	NP_001034656	Q8TD47	RS4Y2_HUMAN	Homo sapiens ribosomal protein S4, Y-linked 2 (RPS4Y2), mRNA.	138					translation	ribosome	rRNA binding|structural constituent of ribosome			lung(2)	2						GAATTCCACACCTGGTGACTC	0.438													22	25					2.89027e-11	1.01389e-10	0.00229938	1	0	A	22930744	C	A	22930744	3	1	262	1	0	0	0	0	1	0	0	0	13647	506	18	5	432	5	RPS4Y2	24	22930744	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08		22930744	36442822	60	11447											
PSMD4	5710	broad.mit.edu	37	chr1	151237660	151237660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctggtgaaactggctaaaCgcctcaagaaggagaaagta	16	6	12	7	1	1	3	1	1	0	2	1	4	1	3	1	3	3	3	1	3	7	2			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr1:151237660C>T	uc001exl.3	+	4	450	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C		NM_002810	NP_002801	P55036	PSMD4_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 (PSMD4), mRNA.	130	VWFA.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACTGGCTAAACGCCTCAAGAA	0.443													4	19					0	0	1	0	0	T	151237660	C	T	151237660	3	4	263	1	0	0	0	0	1	0	0	0	12700	536	19	1	406	1	PSMD4	1	151237660	Missense_Mutation	SNP	C	TCGA-HW-7491-01A-11D-2024-08		151237660	98012961	1	11448											
TTC7A	57217	broad.mit.edu	37	chr2	47220609	47220609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacatcgtgaagggcatgaGagagctccgggaggtgctgc	10	6	17	8	2	0	3	0	2	0	1	2	6	1	4	1	3	4	3	1	3	2	0			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr2:47220609G>A	uc010fbb.3	+	5	1153	c.785G>A	c.(784-786)aGa>aAa	p.R262K	TTC7A_uc002rvm.3_Missense_Mutation_p.R228K|TTC7A_uc002rvn.1_Missense_Mutation_p.R143K|TTC7A_uc002rvo.3_Missense_Mutation_p.R262K|TTC7A_uc010fbc.3_5'UTR|TTC7A_uc002rvp.3_Missense_Mutation_p.R143K|TTC7A_uc002rvq.3_Missense_Mutation_p.R2K|TTC7A_uc002rvr.3_5'Flank	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA.	262							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			AAGGGCATGAGAGAGCTCCGG	0.547													46	47					0	0	1	0	0	A	47220609	G	A	47220609	3	1	263	1	0	0	0	0	1	0	0	0	16709	942	33	3	807	3	TTC7A	2	47220609	Missense_Mutation	SNP	G	TCGA-HW-7491-01A-11D-2024-08		47220609	195978764	2	11449											
AGPS	8540	broad.mit.edu	37	chr2	178386040	178386040	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgcttgtatctacttctatTttgcctttaactacagggga	8	17	8	8	0	2	0	0	0	2	0	2	1	2	1	1	2	5	2	1	2	5	10			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr2:178386040T>G	uc002ull.2	+	17	1788	c.1741T>G	c.(1741-1743)Ttt>Gtt	p.F581V	AGPS_uc010zfb.1_Missense_Mutation_p.F491V	NM_003659	NP_003650	O00116	ADAS_HUMAN	Homo sapiens alkylglycerone phosphate synthase (AGPS), mRNA.	581					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			CTACTTCTATTTTGCCTTTAA	0.383													33	67					0	0	1	0	0	G	178386040	T	G	178386040	3	3	263	1	0	0	0	0	1	0	0	0	394	1841	64	5	1811	5	AGPS	2	178386040	Missense_Mutation	SNP	T	TCGA-HW-7491-01A-11D-2024-08	131165431	178386040	64813333	3	11450											
SCN10A	6336	broad.mit.edu	37	chr3	38739794	38739794	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctggaagttgaacatgtcGtcgatgccagcctcccacct	8	10	10	13	2	1	1	0	1	1	0	4	3	2	2	4	1	3	1	4	1	2	1	rs142804903		TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr3:38739794G>A	uc003ciq.3	-	26	4917	c.4917C>T	c.(4915-4917)gaC>gaT	p.D1639D		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1639					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGAACATGTCGTCGATGCCAG	0.547													71	69					0	0	1	0	0	A	38739794	G	A	38739794	2	1	263	1	0	0	0	0	0	0	0	1	13912	1136	40	1		1	SCN10A	3	38739794	Silent	SNP	G	TCGA-HW-7491-01A-11D-2024-08		38739794	159282636	4	11451											
PIK3CA	5290	broad.mit.edu	37	chr3	178916938	178916940	+	In_Frame_Del	DEL	GAA	GAA	-																															ttgaaccagtaggcaaccgtGaagaaaagatcctcaatcga																										TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr3:178916938_178916940delGAA	uc003fjk.3	+	1	482_484	c.325_327delGAA	c.(325-327)gaadel	p.E110del		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	110					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E109del(6)|p.E110K(4)|p.G106_R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGGCAACCGTGAAGAAAAGATCC	0.34		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			44	54	---	---	---	---						-	178916940	GAA	-	178916938	7	5	263	1	0	1	0	1	0	0	0	0	11913	1291	45	0	327	0	PIK3CA	3	178916938	In_Frame_Del	DEL	GAA	TCGA-HW-7491-01A-11D-2024-08	140177144	178916938	19105492	5	11452											
UGT2B10	7365	broad.mit.edu	37	chr4	69870721	69870721	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactggaaccaggtgaggtcAtgggctgcaactcgaaggtg	10	8	15	8	1	1	1	1	1	0	0	2	3	1	2	1	5	4	2	1	5	4	1	rs150703910	by1000genomes	TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr4:69870721A>G	uc011cao.1	-	7	1434	c.1308T>C	c.(1306-1308)caT>caC	p.H436H	UGT2B10_uc011can.1_Silent_p.H352H			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	480					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AGGTGAGGTCATGGGCTGCAA	0.478													5	92					0	0	1	0	0	G	69870721	A	G	69870721	2	3	263	1	0	0	0	0	0	0	0	1	16953	214	8	3		3	UGT2B10	4	69870721	Silent	SNP	A	TCGA-HW-7491-01A-11D-2024-08		69870721	121283555	6	11453											
TINAG	27283	broad.mit.edu	37	chr6	54191662	54191662	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagatggttttaaatttcGccttggcactttgccaccta	10	14	8	9	1	0	2	0	0	0	2	1	2	0	2	3	2	1	2	3	2	4	6			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr6:54191662G>A	uc003pcj.2	+	3	718	c.572G>A	c.(571-573)cGc>cAc	p.R191H	TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	191					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	p.R191H(2)|p.R191L(2)|p.R191C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTTAAATTTCGCCTTGGCACT	0.373													30	54					0	0	1	0	0	A	54191662	G	A	54191662	3	1	263	1	0	0	0	0	1	0	0	0	15918	1087	38	1	586	1	TINAG	6	54191662	Missense_Mutation	SNP	G	TCGA-HW-7491-01A-11D-2024-08		54191662	116923405	7	11454											
LAMB4	22798	broad.mit.edu	37	chr7	107748127	107748127	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttggagtcacaaacaatGtctcccactccctgggcctg	9	11	8	13	0	2	0	1	0	1	0	4	1	3	1	3	2	1	0	3	2	3	2			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr7:107748127G>T	uc010ljo.1	-	5	624	c.540C>A	c.(538-540)gaC>gaA	p.D180E	LAMB4_uc003vey.2_Missense_Mutation_p.D180E	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	180	Laminin N-terminal.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CACAAACAATGTCTCCCACTC	0.398													26	34					3.80469e-20	4.01035e-20	1	1	0	T	107748127	G	T	107748127	3	4	263	1	0	0	0	0	1	0	0	0	8613	1368	48	5	4861	5	LAMB4	7	107748127	Missense_Mutation	SNP	G	TCGA-HW-7491-01A-11D-2024-08		107748127	51390536	8	11455											
SLC37A3	84255	broad.mit.edu	37	chr7	140058508	140058508	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagtggactgcagcaggccGttcacaatccacaggcagca	11	5	11	14	1	1	0	1	0	0	0	2	1	2	1	3	3	3	5	3	3	1	1	rs142313913	byFrequency	TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr7:140058508G>A	uc003vvo.3	-	5	619	c.453C>T	c.(451-453)aaC>aaT	p.N151N	SLC37A3_uc003vvp.3_Silent_p.N151N|SLC37A3_uc010lnh.3_Silent_p.N151N|SLC37A3_uc011kqz.2_Intron|SLC37A3_uc011kra.1_Silent_p.N151N|SLC37A3_uc011krb.1_Silent_p.N123N	NM_207113	NP_996996	Q8NCC5	SPX3_HUMAN	Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 3 (SLC37A3), transcript variant 1, mRNA.	151					carbohydrate transport|transmembrane transport	integral to membrane				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					GCAGCAGGCCGTTCACAATCC	0.512													61	92					0	0	1	0	0	A	140058508	G	A	140058508	2	1	263	1	0	0	0	0	0	0	0	1	14599	1136	40	1		1	SLC37A3	7	140058508	Silent	SNP	G	TCGA-HW-7491-01A-11D-2024-08	32310381	140058508	19080155	9	11456											
VPS13A	23230	broad.mit.edu	37	chr9	79936584	79936584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atggagaaagtttaagtatgGattatatccgaaccaaggac	16	10	10	5	1	0	1	0	0	0	1	1	5	1	3	2	3	1	2	2	3	7	5			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr9:79936584G>A	uc004akr.3	+	43	6012	c.5752G>A	c.(5752-5754)Gat>Aat	p.D1918N	VPS13A_uc004akp.4_Missense_Mutation_p.D1918N|VPS13A_uc004akq.4_Missense_Mutation_p.D1918N|VPS13A_uc004aks.3_Missense_Mutation_p.D1879N|VPS13A_uc004akt.3_Missense_Mutation_p.D258N	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	1918					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTAAGTATGGATTATATCCG	0.338													24	35					0	0	1	0	0	A	79936584	G	A	79936584	3	1	263	1	0	0	0	0	1	0	0	0	17186	1174	41	3	5926	3	VPS13A	9	79936584	Missense_Mutation	SNP	G	TCGA-HW-7491-01A-11D-2024-08		79936584	61276847	10	11457											
NR4A3	8013	broad.mit.edu	37	chr9	102590616	102590618	+	In_Frame_Del	DEL	CAC	CAC	-																															cgcccagctaccatcaccatCaccaccaccaccaccaccac																										TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr9:102590616_102590618delCAC	uc022bky.1	+	3	1093_1095	c.325_327delCAC	c.(325-327)cacdel	p.H119del	NR4A3_uc004bae.3_In_Frame_Del_p.H108del|NR4A3_uc004baf.1_In_Frame_Del_p.H108del	NM_173200	NP_008912	Q92570	NR4A3_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 3 (NR4A3), transcript variant 3, mRNA.	108					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				ccatcaccatcaccaccaccacc	0.616			T	EWSR1	extraskeletal myxoid chondrosarcoma								8	58	---	---	---	---						-	102590618	CAC	-	102590616	7	5	263	1	0	1	0	1	0	0	0	0	10634	826	29	0	331	0	NR4A3	9	102590616	In_Frame_Del	DEL	CAC	TCGA-HW-7491-01A-11D-2024-08	22654032	102590616	38622815	11	11458											
OR6Q1	219952	broad.mit.edu	37	chr11	57799000	57799000	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacccttgctagccttgtcGtgctcagatgtcacttggaa	7	13	9	12	1	3	1	3	0	0	1	4	2	3	2	2	1	3	2	2	1	2	4			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr11:57799000G>A	uc010rjz.2	+	0	576	c.576G>A	c.(574-576)tcG>tcA	p.S192S	OR9Q1_uc001nmj.3_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Q, member 1 (OR6Q1), mRNA.	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S192L(1)		biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TAGCCTTGTCGTGCTCAGATG	0.498													65	61					0	0	1	0	0	A	57799000	G	A	57799000	2	1	263	1	0	0	0	0	0	0	0	1	11208	1132	40	1		1	OR6Q1	11	57799000	Silent	SNP	G	TCGA-HW-7491-01A-11D-2024-08		57799000	77207516	12	11459											
CMKLR1	1240	broad.mit.edu	37	chr12	108685742	108685742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttagagcattgaccaggCgagagaagagggccaccttg	12	6	13	10	1	0	4	0	1	0	3	0	6	0	4	3	2	1	1	3	2	2	3			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr12:108685742C>T	uc009zuw.3	-	2	1189	c.998G>A	c.(997-999)cGc>cAc	p.R333H	CMKLR1_uc001tmw.3_Missense_Mutation_p.R333H|CMKLR1_uc001tmv.3_Missense_Mutation_p.R331H|CMKLR1_uc009zuv.3_Missense_Mutation_p.R333H|CMKLR1_uc021rdj.1_Missense_Mutation_p.R331H	NM_001142345	NP_004063	Q99788	CML1_HUMAN	Homo sapiens chemokine-like receptor 1 (CMKLR1), transcript variant 4, mRNA.	333					chemotaxis|immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-12 production|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						ATTGACCAGGCGAGAGAAGAG	0.483													29	54					0	0	1	0	0	T	108685742	C	T	108685742	3	4	263	1	0	0	0	0	1	0	0	0	3579	768	27	1	127	1	CMKLR1	12	108685742	Missense_Mutation	SNP	C	TCGA-HW-7491-01A-11D-2024-08		108685742	25166153	13	11460											
UTP14C	9724	broad.mit.edu	37	chr13	52605154	52605154	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaagcagaggatgtgggctaCcagtcttcctcaaggtcaga	12	8	12	9	0	3	2	2	0	1	2	4	3	4	3	2	3	2	2	2	3	3	2	rs141049018	byFrequency	TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr13:52605154C>G	uc001vgb.3	+	1	2776	c.2214C>G	c.(2212-2214)taC>taG	p.Y738*	UTP14C_uc001vga.3_3'UTR|UTP14C_uc001vgc.3_Non-coding_Transcript|UTP14C_uc021rjw.1_Nonsense_Mutation_p.Y738*	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) (UTP14C), mRNA.	738					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		ATGTGGGCTACCAGTCTTCCT	0.483													4	72					0	0	1	0	0	G	52605154	C	G	52605154	4	3	263	1	0	0	0	0	0	1	0	0	17093	518	18	5	2216	5	UTP14C	13	52605154	Nonsense_Mutation	SNP	C	TCGA-HW-7491-01A-11D-2024-08		52605154	62564724	14	11461											
SLITRK6	84189	broad.mit.edu	37	chr13	86370348	86370348	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatctcaatatctgcaataTtgttaaatccaaggtgtatt	13	16	5	7	0	2	0	1	0	2	0	4	0	3	0	1	1	1	3	1	1	9	7			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr13:86370348T>C	uc001vll.1	-	1	755	c.296A>G	c.(295-297)aAt>aGt	p.N99S	SLITRK6_uc021rla.1_Missense_Mutation_p.N99S	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	99						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ATCTGCAATATTGTTAAATCC	0.353													73	20					0	0	1	0	0	C	86370348	T	C	86370348	3	2	263	1	0	0	0	0	1	0	0	0	14747	1493	52	3	2233	3	SLITRK6	13	86370348	Missense_Mutation	SNP	T	TCGA-HW-7491-01A-11D-2024-08	33765194	86370348	28799530	15	11462											
TRIM9	114088	broad.mit.edu	37	chr14	51448645	51448645	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcgagccacaccaaaggcagGatcagggtggttgtcatagc	11	6	14	10	1	2	0	2	0	0	0	2	2	2	1	2	4	2	2	2	4	2	2			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr14:51448645G>C	uc001wyx.4	-	7	2545	c.1780C>G	c.(1780-1782)Cct>Gct	p.P594A	TRIM9_uc001wyy.2_Missense_Mutation_p.P675A	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	594	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					CCAAAGGCAGGATCAGGGTGG	0.517													41	53					0	0	1	0	0	C	51448645	G	C	51448645	3	2	263	1	0	0	0	0	1	0	0	0	16546	1174	41	5	364	5	TRIM9	14	51448645	Missense_Mutation	SNP	G	TCGA-HW-7491-01A-11D-2024-08		51448645	55900895	16	11463											
IDH2	3418	broad.mit.edu	37	chr15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcgccatgggcgtgcCtgccaatggtgatgggcttg	4	10	16	11	2	0	1	0	1	0	0	1	1	0	1	4	4	2	1	4	4	1	1	rs121913503		TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr15:90631838C>T	uc002box.3	-	3	601	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_uc010uqb.2_Missense_Mutation_p.R120K|IDH2_uc010uqc.2_Missense_Mutation_p.R42K	NM_002168	NP_002159	P48735	IDHP_HUMAN	Homo sapiens isocitrate dehydrogenase 2 (NADP+), mitochondrial (IDH2), nuclear gene encoding mitochondrial protein, mRNA.	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding	p.R172K(358)|p.R172M(44)|p.R172S(18)|p.R172W(16)|p.R172?(13)|p.R172G(5)|p.G171D(4)|p.R172N(2)|p.R172L(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								34	30					0	0	1	0	0	T	90631838	C	T	90631838	3	4	263	1	0	0	0	0	1	0	0	0	7495	681	24	3	875	3	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-HW-7491-01A-11D-2024-08		90631838	11899554	17	11464											
GLIS2	84662	broad.mit.edu	37	chr16	4383346	4383346	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaactgtgcctctccctcAggcttcctgctgaactccaa	7	11	7	16	0	2	2	1	2	1	0	5	2	4	2	4	1	4	2	4	1	3	1			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr16:4383346A>G	uc002cwc.1	+	2	239	c.173_splice	c.e2-2	p.G58_splice		NM_032575	NP_115964	Q9BZE0	GLIS2_HUMAN	Homo sapiens GLIS family zinc finger 2 (GLIS2), mRNA.	58	Interaction with CTNND1 (By similarity).				cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						CCTCTCCCTCAGGCTTCCTGC	0.612													3	40					0	0	1	0	0	G	4383346	A	G	4383346	5	3	263	1	0	0	0	0	0	0	1	0	6446	202	7	4	177	4	GLIS2	16	4383346	Splice_Site	SNP	A	TCGA-HW-7491-01A-11D-2024-08		4383346	85971407	18	11465											
VASN	114990	broad.mit.edu	37	chr16	4431389	4431391	+	In_Frame_Del	DEL	CTG	CTG	-																															ccccgctgcgcctgccccgcCtgctgctgctggacctcagc																										TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr16:4431389_4431391delCTG	uc021tch.1	+	0	511_513	c.511_513delCTG	c.(511-513)ctgdel	p.L174del	CORO7-PAM16_uc002cwe.3_Intron|CORO7-PAM16_uc002cwf.3_Intron|CORO7-PAM16_uc002cwg.4_Intron|CORO7-PAM16_uc002cwh.4_Intron|CORO7-PAM16_uc010uxh.2_Intron|CORO7-PAM16_uc010uxi.2_Intron|CORO7-PAM16_uc002cwi.1_Intron|CORO7-PAM16_uc010uxj.1_Intron|CORO7-PAM16_uc010btp.1_Intron|VASN_uc002cwj.1_In_Frame_Del_p.L174del	NM_138440	NP_612449	Q6EMK4	VASN_HUMAN	Homo sapiens vasorin (VASN), mRNA.	174						extracellular region|integral to membrane				breast(1)|lung(3)|prostate(1)|skin(1)	6						CCTGCCCCGCCTGCTGCTGCTGG	0.704													2	4	---	---	---	---						-	4431391	CTG	-	4431389	7	5	263	1	0	1	0	1	0	0	0	0	17124	680	24	0	513	0	VASN	16	4431389	In_Frame_Del	DEL	CTG	TCGA-HW-7491-01A-11D-2024-08	48043	4431389	85923364	19	11466											
SLC12A4	6560	broad.mit.edu	37	chr16	67986327	67986340	+	Splice_Site	DEL	GTCTGAAACAAGAA	GTCTGAAACAAGAA	-																															cagctggtggggcaatgtagGtctgaaacaagaagatggat																										TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr16:67986327_67986340delGTCTGAAACAAGAA	uc010vkj.1	-	6	722	c.682_splice	c.e6-1	p.T228_splice	SLC12A4_uc010ceu.2_Splice_Site_p.T220_splice|SLC12A4_uc010vkh.1_Splice_Site_p.T195_splice|SLC12A4_uc002euz.2_Splice_Site_p.T226_splice|SLC12A4_uc010vki.1_Splice_Site_p.T226_splice|SLC12A4_uc002eva.2_Splice_Site_p.T226_splice|SLC12A4_uc002evb.2_Splice_Site|SLC12A4_uc010cew.1_Splice_Site_p.R147_splice	NM_001145962	NP_001139434	Q9UP95	S12A4_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA.	226					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGCAATGTAGGTCTGAAACAAGAAGATGGATAAG	0.449													17	100	---	---	---	---						-	67986340	GTCTGAAACAAGAA	-	67986327	8	5	263	1	0	1	0	1	0	0	1	0	14385	1275	44	0	2652	0	SLC12A4	16	67986327	Splice_Site	DEL	GTCTGAAACAAGAA	TCGA-HW-7491-01A-11D-2024-08	63554938	67986327	22368426	20	11467											
DVL2	1856	broad.mit.edu	37	chr17	7132713	7132713	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacccatgtttagcgtgacTgtgatgatattgagagacat	12	13	10	6	1	0	5	0	4	0	1	0	6	0	5	1	0	2	1	1	0	3	5			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr17:7132713T>C	uc002gez.1	-	6	1083	c.801A>G	c.(799-801)acA>acG	p.T267T	DVL2_uc010vtr.1_Silent_p.T261T|DVL2_uc010vts.1_Missense_Mutation_p.S179G|DVL2_uc010clz.1_3'UTR	NM_004422	NP_004413	O14641	DVL2_HUMAN	Homo sapiens dishevelled, dsh homolog 2 (Drosophila) (DVL2), mRNA.	267	PDZ.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TTAGCGTGACTGTGATGATAT	0.567													37	55					0	0	1	0	0	C	7132713	T	C	7132713	2	2	263	1	0	0	0	0	0	0	0	1	4836	1567	55	4		4	DVL2	17	7132713	Silent	SNP	T	TCGA-HW-7491-01A-11D-2024-08		7132713	74062497	21	11468											
PLCD3	113026	broad.mit.edu	37	chr17	43198453	43198453	+	Frame_Shift_Del	DEL	C	C	-																															cccgaagcgccgcaggccctCggactggtggccctcgcgga																										TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr17:43198453delC	uc002iib.3	-	2	484	c.370delG	c.(370-372)gagfs	p.E124fs		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	Homo sapiens phospholipase C, delta 3 (PLCD3), mRNA.	124	PH.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	CGCAGGCCCTCGGACTGGTGG	0.736													2	4	---	---	---	---						-	43198453	C	-	43198453	7	5	263	1	0	1	0	1	0	0	0	0	12032	893	31	0	2050	0	PLCD3	17	43198453	Frame_Shift_Del	DEL	C	TCGA-HW-7491-01A-11D-2024-08	36065740	43198453	37996757	22	11469											
FUT5	2527	broad.mit.edu	37	chr19	5867346	5867347	+	Frame_Shift_Ins	INS	-	-	GG																															gggggcgggaggttggcactINSggggttgtacatgatatccc																								rs111394159		TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr19:5867346_5867347insGG	uc002mdo.4	-	1	561_562	c.390_391insCC	c.(388-393)cccagtfs	p.P130fs	FUT5_uc010duo.3_Frame_Shift_Ins_p.P130fs|FUT5_uc021uno.1_Frame_Shift_Ins_p.P130fs	NM_002034	NP_002025	Q11128	FUT5_HUMAN	Homo sapiens fucosyltransferase 5 (alpha (1,3) fucosyltransferase) (FUT5), mRNA.	130					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						AGGTTGGCACTGGGGTTGTACA	0.663													25	39	---	---	---	---						GG	5867347	-	GG	5867346	7	5	263	1	0	1	1	0	0	0	0	0	6107	1580	55	0	737	0	FUT5	19	5867346	Frame_Shift_Ins	INS	-	TCGA-HW-7491-01A-11D-2024-08		5867346	53261637	23	11470											
CIC	23152	broad.mit.edu	37	chr19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcttcagcaagcggcacCgggccctggtccaccagcgt	7	7	12	15	3	2	1	1	1	1	0	3	1	3	1	4	3	3	2	4	3	1	1			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr19:42791757C>T	uc002otf.1	+	4	683	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215W(8)|p.R215Q(2)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612			"Mis, F, S"		oligodendroglioma								36	10					0	0	1	0	0	T	42791757	C	T	42791757	3	4	263	1	0	0	0	0	1	0	0	0	3424	643	23	2	661	2	CIC	19	42791757	Missense_Mutation	SNP	C	TCGA-HW-7491-01A-11D-2024-08	36924411	42791757	16337226	24	11471											
PRAMEF2	65122	broad.mit.edu	37	chr1	12921405	12921405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccctgaaggacctgctgcGccacaccagtgggctgagca	8	5	13	15	2	0	2	0	2	0	0	0	3	0	3	4	2	3	3	4	2	1	0	rs143742734	byFrequency	TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr1:12921405G>A	uc001aum.1	+	3	1283	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	399										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTGCTGCGCCACACCAGT	0.557													7	106					0	0	0.004482	0	0	A	12921405	G	A	12921405	3	1	264	1	0	0	0	0	1	0	0	0	12435	1087	38	1	1206	1	PRAMEF2	1	12921405	Missense_Mutation	SNP	G	TCGA-HW-7495-01A-11D-2024-08		12921405	236329216	1	11472											
CELSR2	1952	broad.mit.edu	37	chr1	109805553	109805553	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggacagccggcacatagAcatggctgacttcattgcca	10	8	12	11	1	1	2	1	1	0	1	1	3	1	3	2	4	2	2	2	4	1	3			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr1:109805553A>G	uc001dxa.4	+	6	4731	c.4670A>G	c.(4669-4671)gAc>gGc	p.D1557G		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	1557	Laminin G-like 1.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGGCACATAGACATGGCTGAC	0.647													3	30					0	0	0.001168	0	0	G	109805553	A	G	109805553	3	3	264	1	0	0	0	0	1	0	0	0	3222	275	10	3	4696	3	CELSR2	1	109805553	Missense_Mutation	SNP	A	TCGA-HW-7495-01A-11D-2024-08	96884148	109805553	139445068	2	11473											
CTNNA2	1496	broad.mit.edu	37	chr2	80808942	80808942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgcagggcagagcgcaCgggtgagtggacacctaaga	11	6	15	9	2	1	3	1	1	0	2	1	4	1	4	1	3	2	3	1	3	1	2			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr2:80808942C>T	uc010ysh.2	+	12	2010	c.2005C>T	c.(2005-2007)Cgg>Tgg	p.R669W	CTNNA2_uc010yse.2_Missense_Mutation_p.R669W|CTNNA2_uc010ysf.2_Missense_Mutation_p.R669W|CTNNA2_uc010ysg.2_Missense_Mutation_p.R669W|CTNNA2_uc010ysi.2_Missense_Mutation_p.R301W	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	669					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.R669W(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCAGAGCGCACGGGTGAGTGG	0.493													20	30					0	0	0.008871	0	0	T	80808942	C	T	80808942	3	4	264	1	0	0	0	0	1	0	0	0	4013	527	19	1	1847	1	CTNNA2	2	80808942	Missense_Mutation	SNP	C	TCGA-HW-7495-01A-11D-2024-08		80808942	162390431	3	11474											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								21	43					0	0	0.021523	0	0	T	209113112	C	T	209113112	3	4	264	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-7495-01A-11D-2024-08	128304170	209113112	34086261	4	11475											
ARL13B	200894	broad.mit.edu	37	chr3	93714764	93714764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgataatgctggtaaaaccGcaacagcaaagggaatccaa	17	7	9	8	1	0	1	0	1	0	0	1	2	1	2	2	2	4	4	2	2	7	3	rs139780924	by1000genomes	TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr3:93714764G>A	uc003drc.3	+	1	391	c.106G>A	c.(106-108)Gca>Aca	p.A36T	ARL13B_uc010hop.3_Silent_p.P5P|ARL13B_uc003drf.3_Missense_Mutation_p.A36T|ARL13B_uc003drg.3_Intron|ARL13B_uc003drd.3_Intron|ARL13B_uc003dre.3_5'UTR	NM_182896	NP_001167622	Q3SXY8	AR13B_HUMAN	Homo sapiens ADP-ribosylation factor-like 13B (ARL13B), transcript variant 1, mRNA.	36							GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						TGGTAAAACCGCAACAGCAAA	0.299													13	22					0	0	0.020292	0	0	A	93714764	G	A	93714764	3	1	264	1	0	0	0	0	1	0	0	0	929	1087	38	1	112	1	ARL13B	3	93714764	Missense_Mutation	SNP	G	TCGA-HW-7495-01A-11D-2024-08		93714764	104307666	5	11476											
TRIO	7204	broad.mit.edu	37	chr5	14406753	14406753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttccatcgcctcacggaCgtctcagaacacgctggaca	10	8	9	14	4	2	1	2	0	1	1	5	4	3	3	2	2	1	1	2	2	1	1	rs55687522		TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr5:14406753C>T	uc003jff.3	+	32	4937	c.4931C>T	c.(4930-4932)aCg>aTg	p.T1644M	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Missense_Mutation_p.T1293M	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	1644			T -> M (in dbSNP:rs55687522).		apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity	p.T1644M(2)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCCTCACGGACGTCTCAGAAC	0.567													31	66					0	0	0.010818	0	0	T	14406753	C	T	14406753	3	4	264	1	0	0	0	0	1	0	0	0	16549	536	19	1	5061	1	TRIO	5	14406753	Missense_Mutation	SNP	C	TCGA-HW-7495-01A-11D-2024-08		14406753	166508507	6	11477											
RREB1	6239	broad.mit.edu	37	chr6	7240706	7240706	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgtcaaaaatgcgatgccTtcttttctaccaaatctaac	12	14	4	11	1	4	0	1	0	3	0	4	1	4	0	2	0	4	0	2	0	5	6			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr6:7240706T>A	uc003mxb.3	+	10	4336	c.3844T>A	c.(3844-3846)Ttc>Atc	p.F1282I	RREB1_uc021yky.1_Intron|RREB1_uc003mxc.3_Intron|RREB1_uc010jnx.3_Missense_Mutation_p.F1282I|RREB1_uc021ykz.1_Intron|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	1272					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				ATGCGATGCCTTCTTTTCTAC	0.423													31	92					0	0	0.019004	0	0	A	7240706	T	A	7240706	3	1	264	1	0	0	0	0	1	0	0	0	13679	1609	56	5	3874	5	RREB1	6	7240706	Missense_Mutation	SNP	T	TCGA-HW-7495-01A-11D-2024-08		7240706	163874361	7	11478											
DNAH11	8701	broad.mit.edu	37	chr7	21639635	21639635	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccctagacagagaggctggGgatggcttctatgatcttgt	8	12	13	8	0	2	3	0	1	2	2	3	5	3	4	1	4	0	2	1	4	2	4			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr7:21639635G>A	uc003svc.3	+	14	2929	c.2898G>A	c.(2896-2898)ggG>ggA	p.G966G		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	966	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAGAGGCTGGGGATGGCTTCT	0.393									Kartagener syndrome				4	46					0	0	0.009096	0	0	A	21639635	G	A	21639635	2	1	264	1	0	0	0	0	0	0	0	1	4599	1219	43	3		3	DNAH11	7	21639635	Silent	SNP	G	TCGA-HW-7495-01A-11D-2024-08		21639635	137499028	8	11479											
AEBP1	165	broad.mit.edu	37	chr7	44153669	44153669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtgacagagtttgggaccGaggtggagcccgagtttggg	7	9	19	6	2	0	2	0	1	0	1	0	6	0	4	2	5	1	2	2	5	0	2	rs146155697		TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr7:44153669G>A	uc003tkb.3	+	20	3591	c.3286G>A	c.(3286-3288)Gag>Aag	p.E1096K	AEBP1_uc003tkc.4_Missense_Mutation_p.E671K|AEBP1_uc003tkd.3_Missense_Mutation_p.E346K	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	Homo sapiens AE binding protein 1 (AEBP1), mRNA.	1096	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GTTTGGGACCGAGGTGGAGCC	0.597													4	53					0	0	0.014758	0	0	A	44153669	G	A	44153669	3	1	264	1	0	0	0	0	1	0	0	0	349	1059	37	2	3368	2	AEBP1	7	44153669	Missense_Mutation	SNP	G	TCGA-HW-7495-01A-11D-2024-08	22514034	44153669	114984994	9	11480											
CADPS2	93664	broad.mit.edu	37	chr7	122130306	122130306	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtatctccttctttaacagCattaaagaacatacaaccac	16	11	3	11	0	2	1	0	0	2	1	3	1	2	1	2	0	5	2	2	0	7	6			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr7:122130306C>A	uc022akp.1	-	10	2103	c.1681G>T	c.(1681-1683)Gct>Tct	p.A561S	CADPS2_uc003vkg.4_Missense_Mutation_p.A261S|CADPS2_uc022akq.1_Missense_Mutation_p.A561S|CADPS2_uc010lkq.3_Missense_Mutation_p.A561S|CADPS2_uc022akr.1_Missense_Mutation_p.A561S	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	561	PH.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TCTTTAACAGCATTAAAGAAC	0.378													16	160					2.94398e-08	3.12241e-08	0.007413	1	0	A	122130306	C	A	122130306	3	1	264	1	0	0	0	0	1	0	0	0	2571	710	25	5	2333	5	CADPS2	7	122130306	Missense_Mutation	SNP	C	TCGA-HW-7495-01A-11D-2024-08	77976637	122130306	37008357	10	11481											
DOCK8	81704	broad.mit.edu	37	chr9	289509	289509	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcattttctacctcattaGggttgaactggaccctcatg	8	16	7	10	0	4	1	3	1	1	0	4	2	4	2	2	2	2	1	2	2	3	6			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr9:289509G>A	uc003zgf.2	+	4	445	c.333_splice	c.e4-1	p.G111_splice	DOCK8_uc011lls.1_Splice_Site_p.G111_splice|DOCK8_uc022bcu.1_Splice_Site_p.G43_splice|DOCK8_uc010mgv.3_Splice_Site_p.G43_splice|DOCK8_uc010mgu.3_Splice_Site|DOCK8_uc010mgt.3_Splice_Site_p.G43_splice|DOCK8_uc003zgg.3_Splice_Site_p.G43_splice|DOCK8_uc022bct.1_Splice_Site	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	111					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TACCTCATTAGGGTTGAACTG	0.388													4	30					0	0	0.014758	0	0	A	289509	G	A	289509	5	1	264	1	0	0	0	0	0	0	1	0	4693	1014	35	3	346	3	DOCK8	9	289509	Splice_Site	SNP	G	TCGA-HW-7495-01A-11D-2024-08		289509	140923922	11	11482											
MUC2	4583	broad.mit.edu	37	chr11	1103827	1103827	+	Frame_Shift_Del	DEL	C	C	-																															aggcacccctcgcaatgagaCcagggtgccctgctccaccg																										TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr11:1103827delC	uc001lsx.1	+	49	8141	c.8114delC	c.(8113-8115)accfs	p.T2705fs		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	5071						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CGCAATGAGACCAGGGTGCCC	0.672													2	4	---	---	---	---						-	1103827	C	-	1103827	7	5	264	1	0	1	0	1	0	0	0	0	9975	507	18	0	8308	0	MUC2	11	1103827	Frame_Shift_Del	DEL	C	TCGA-HW-7495-01A-11D-2024-08		1103827	133902689	12	11483											
PRDM10	56980	broad.mit.edu	37	chr11	129817095	129817095	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcccagtcatccagatcCgtgtcctcaccgtcttcttc	5	12	7	17	2	4	1	2	0	2	1	9	1	8	1	5	1	0	1	5	1	0	2			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr11:129817095C>T	uc001qfm.3	-	4	697	c.465G>A	c.(463-465)acG>acA	p.T155T	PRDM10_uc001qfj.3_Silent_p.T69T|PRDM10_uc001qfk.3_Silent_p.T69T|PRDM10_uc001qfl.3_Silent_p.T69T|PRDM10_uc010sbx.2_Silent_p.T69T|PRDM10_uc001qfn.3_Silent_p.T155T|PRDM10_uc009zct.1_Silent_p.T187T	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T155T(2)|p.T155M(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CATCCAGATCCGTGTCCTCAC	0.597													25	64					0	0	0.005443	0	0	T	129817095	C	T	129817095	2	4	264	1	0	0	0	0	0	0	0	1	12451	639	23	2		2	PRDM10	11	129817095	Silent	SNP	C	TCGA-HW-7495-01A-11D-2024-08	128713268	129817095	5189421	13	11484											
KCNH5	27133	broad.mit.edu	37	chr14	63269245	63269245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgttcattaaaaaccttccGgtttagatgaacacagatat	15	13	6	7	1	1	3	1	1	0	2	2	3	2	3	2	1	2	2	2	1	6	6			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr14:63269245G>A	uc001xfx.3	-	8	1675	c.1624C>T	c.(1624-1626)Cgg>Tgg	p.R542W	KCNH5_uc001xfy.3_Missense_Mutation_p.R542W|KCNH5_uc001xfz.1_Missense_Mutation_p.R484W	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	542					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.R542R(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AAAACCTTCCGGTTTAGATGA	0.493													5	62					0	0	0.001984	0	0	A	63269245	G	A	63269245	3	1	264	1	0	0	0	0	1	0	0	0	8035	1115	39	2	1388	2	KCNH5	14	63269245	Missense_Mutation	SNP	G	TCGA-HW-7495-01A-11D-2024-08		63269245	44080295	14	11485											
CRLF3	51379	broad.mit.edu	37	chr17	29112983	29112983	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgctgcagagagtcataTccatcctgtttttctgcaca	8	13	7	13	1	2	1	1	0	1	1	5	2	5	1	3	0	2	4	3	0	1	3			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr17:29112983T>C	uc002hfr.4	-	6	1135	c.1026A>G	c.(1024-1026)ggA>ggG	p.G342G	CRLF3_uc010wbr.2_Silent_p.G226G	NM_015986	NP_057070	Q8IUI8	CRLF3_HUMAN	Homo sapiens cytokine receptor-like factor 3 (CRLF3), mRNA.	342					negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|positive regulation of JAK-STAT cascade|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter	cytoplasm				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				GAGAGTCATATCCATCCTGTT	0.363													12	104					0	0	0.016723	0	0	C	29112983	T	C	29112983	2	2	264	1	0	0	0	0	0	0	0	1	3888	1422	50	3		3	CRLF3	17	29112983	Silent	SNP	T	TCGA-HW-7495-01A-11D-2024-08		29112983	52082227	15	11486											
NWD1	284434	broad.mit.edu	37	chr19	16874671	16874671	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctgtggttctcacatacGgttgcaaacctgcggaagct	8	11	10	12	2	2	0	1	0	2	0	3	1	2	1	2	3	5	4	2	3	3	3	rs117965437	by1000genomes	TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr19:16874671G>A	uc002neu.4	+	8	2588	c.2166G>A	c.(2164-2166)acG>acA	p.T722T	NWD1_uc002net.4_Silent_p.T587T|NWD1_uc002nev.4_Silent_p.T516T|NWD1_uc021uqg.1_Silent_p.T587T	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	722							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCTCACATACGGTTGCAAACC	0.592													4	57					0	0	0.014758	0	0	A	16874671	G	A	16874671	2	1	264	1	0	0	0	0	0	0	0	1	10781	1103	39	2		2	NWD1	19	16874671	Silent	SNP	G	TCGA-HW-7495-01A-11D-2024-08		16874671	42254312	16	11487											
BAX	581	broad.mit.edu	37	chr19	49459501	49459501	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccccgagaggtctttttcCgagtggcagctgacatgttt	6	12	11	12	2	1	2	0	1	1	1	2	4	2	2	4	2	1	3	4	2	0	3			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr19:49459501C>T	uc002plk.3	+	3	349	c.280C>T	c.(280-282)Cga>Tga	p.R94*	BAX_uc002plf.1_Nonsense_Mutation_p.R94*|BAX_uc002plg.1_Nonsense_Mutation_p.R57*|BAX_uc002plh.1_Nonsense_Mutation_p.R16*|BAX_uc010xzx.2_Non-coding_Transcript|BAX_uc002plj.3_Nonsense_Mutation_p.R94*|BAX_uc002pll.3_Nonsense_Mutation_p.R45*|BAX_uc002plm.3_Nonsense_Mutation_p.R16*	NM_138761	NP_620116	Q07812	BAX_HUMAN	Homo sapiens BCL2-associated X protein (BAX), transcript variant alpha, mRNA.	94					B cell apoptosis|DNA fragmentation involved in apoptotic nuclear change|activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|cleavage of lamin|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity	p.R94*(2)|p.F93L(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		GGTCTTTTTCCGAGTGGCAGC	0.587													10	79					0	0	0.008291	0	0	T	49459501	C	T	49459501	4	4	264	1	0	0	0	0	0	1	0	0	1328	644	23	2	294	2	BAX	19	49459501	Nonsense_Mutation	SNP	C	TCGA-HW-7495-01A-11D-2024-08	32584830	49459501	9669482	17	11488											
ZNF579	163033	broad.mit.edu	37	chr19	56090218	56090218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcgcttggggcgtggcgggGgccccccttccccttcctgt	0	10	15	16	3	0	0	0	0	0	0	3	0	2	0	6	5	0	1	6	5	0	3			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr19:56090218G>A	uc002qlh.3	-	1	841	c.788C>T	c.(787-789)cCc>cTc	p.P263L	ZNF579_uc021vby.1_Missense_Mutation_p.P263L	NM_152600	NP_689813	Q8NAF0	ZN579_HUMAN	Homo sapiens zinc finger protein 579 (ZNF579), mRNA.	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		GCGTGGCGGGGGCCCCCCTTC	0.716													5	3					0	0	0.014758	0	0	A	56090218	G	A	56090218	3	1	264	1	0	0	0	0	1	0	0	0	18008	1232	43	3	904	3	ZNF579	19	56090218	Missense_Mutation	SNP	G	TCGA-HW-7495-01A-11D-2024-08	6630717	56090218	3038765	18	11489											
SH3KBP1	30011	broad.mit.edu	37	chrX	19764444	19764444	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttttccatacctctcttaTtggttcttaaaatcgtttca	8	19	3	11	1	3	0	1	0	2	0	6	0	4	0	3	1	1	2	3	1	4	8			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chrX:19764444T>A	uc004czm.3	-	2	594	c.278A>T	c.(277-279)aAt>aTt	p.N93I	SH3KBP1_uc004czl.3_Missense_Mutation_p.N56I	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	Homo sapiens SH3-domain kinase binding protein 1 (SH3KBP1), transcript variant 1, mRNA.	93					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						ACCTCTCTTATTGGTTCTTAA	0.423													55	75					0	0	0.01441	0	0	A	19764444	T	A	19764444	3	1	264	1	0	0	0	0	1	0	0	0	14255	1493	52	5	1799	5	SH3KBP1	23	19764444	Missense_Mutation	SNP	T	TCGA-HW-7495-01A-11D-2024-08		19764444	135506116	19	11490											
WDR44	54521	broad.mit.edu	37	chrX	117527112	117527112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaagcctgttccagcacGcccacctcctccaactaatt	12	8	5	16	1	0	1	0	0	0	1	3	1	3	1	6	0	3	2	6	0	4	3			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chrX:117527112G>A	uc004eqn.3	+	3	1135	c.704G>A	c.(703-705)cGc>cAc	p.R235H	WDR44_uc004eqo.3_Missense_Mutation_p.R235H|WDR44_uc011mtr.2_Missense_Mutation_p.R210H|WDR44_uc010nqi.3_5'UTR	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	Homo sapiens WD repeat domain 44 (WDR44), transcript variant 1, mRNA.	235	Pro-rich.					Golgi apparatus|cytosol|endosome membrane|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						GTTCCAGCACGCCCACCTCCT	0.522													91	191					0	0	0.01441	0	0	A	117527112	G	A	117527112	3	1	264	1	0	0	0	0	1	0	0	0	17293	1087	38	1	718	1	WDR44	23	117527112	Missense_Mutation	SNP	G	TCGA-HW-7495-01A-11D-2024-08	97762668	117527112	37743448	20	11491											
HIVEP3	59269	broad.mit.edu	37	chr1	41978828	41978828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agacccacaagggagagcgcCcatgccccttcctgggtcca	9	5	11	16	1	0	2	0	0	0	2	2	3	2	2	6	2	2	0	6	2	1	1			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr1:41978828C>T	uc001cgz.4	-	7	7277	c.6064G>A	c.(6064-6066)Ggc>Agc	p.G2022S	HIVEP3_uc001cha.4_Missense_Mutation_p.G2022S|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	2022					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGAGAGCGCCCATGCCCCTT	0.632													31	38					0	0	1	0	0	T	41978828	C	T	41978828	3	4	265	1	0	0	0	0	1	0	0	0	7188	623	22	3	1164	3	HIVEP3	1	41978828	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08		41978828	207271793	1	11492											
OR2T1	26696	broad.mit.edu	37	chr1	248570030	248570030	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcagacacagccctctaCgagacagtgatgtatgtgtg	10	10	12	9	1	1	3	0	1	1	2	1	4	1	3	1	0	3	2	1	0	2	2	rs148427102		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr1:248570030C>T	uc010pzm.2	+	0	735	c.735C>T	c.(733-735)taC>taT	p.Y245Y		NM_030904	NP_112166	O43869	OR2T1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGCCCTCTACGAGACAGTGA	0.493													33	45					0	0	1	0	0	T	248570030	C	T	248570030	2	4	265	1	0	0	0	0	0	0	0	1	11016	547	19	1		1	OR2T1	1	248570030	Silent	SNP	C	TCGA-HW-8319-01A-11D-2395-08	206591202	248570030	680591	2	11493											
APOB	338	broad.mit.edu	37	chr2	21226157	21226157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtttcctcatcagattccCggaccctcaactcagttttg	8	13	7	13	1	4	1	4	0	0	1	6	3	6	2	3	1	1	2	3	1	1	4	rs149273387		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr2:21226157C>T	uc002red.3	-	28	12265	c.12137G>A	c.(12136-12138)cGg>cAg	p.R4046Q		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4046					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.R4046W(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATCAGATTCCCGGACCCTCAA	0.408													110	214					0	0	1	0	0	T	21226157	C	T	21226157	3	4	265	1	0	0	0	0	1	0	0	0	785	652	23	2	1558	2	APOB	2	21226157	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08		21226157	221973216	3	11494											
SCN2A	6326	broad.mit.edu	37	chr2	166211024	166211024	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactagtggcataggcagcaGtgtagaaaaatatgtcgtgg	13	10	13	5	1	0	1	0	0	0	1	1	1	0	1	0	3	2	4	0	3	7	5			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr2:166211024G>C	uc002udc.3	+	16	3532	c.3242G>C	c.(3241-3243)aGt>aCt	p.S1081T	SCN2A_uc002udd.3_Missense_Mutation_p.S1081T|SCN2A_uc002ude.3_Missense_Mutation_p.S1081T	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1081					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ATAGGCAGCAGTGTAGAAAAA	0.388													29	49					0	0	1	0	0	C	166211024	G	C	166211024	3	2	265	1	0	0	0	0	1	0	0	0	13916	1029	36	5	3400	5	SCN2A	2	166211024	Missense_Mutation	SNP	G	TCGA-HW-8319-01A-11D-2395-08	144984867	166211024	76988349	4	11495											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								26	44					0	0	1	0	0	T	209113112	C	T	209113112	3	4	265	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08	42902088	209113112	34086261	5	11496											
ANKRD28	23243	broad.mit.edu	37	chr3	15719776	15719776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggtgttttccctgtagagtCcacagaattgacttgagcat	10	13	10	8	0	0	4	0	2	0	2	2	4	2	4	2	1	1	3	2	1	2	5			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr3:15719776C>T	uc003caj.1	-	23	2700	c.2557G>A	c.(2557-2559)Gac>Aac	p.D853N	ANKRD28_uc003cai.1_Missense_Mutation_p.D699N|ANKRD28_uc011avz.1_Missense_Mutation_p.D699N|ANKRD28_uc003cak.1_Non-coding_Transcript|ANKRD28_uc011awa.1_Non-coding_Transcript|ANKRD28_uc011avy.1_5'Flank	NM_015199	NP_001182028	O15084	ANR28_HUMAN	Homo sapiens ankyrin repeat domain 28 (ANKRD28), transcript variant 1, mRNA.	853						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						CCTGTAGAGTCCACAGAATTG	0.398													16	16					0	0	1	0	0	T	15719776	C	T	15719776	3	4	265	1	0	0	0	0	1	0	0	0	656	855	30	3	624	3	ANKRD28	3	15719776	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08		15719776	182302654	6	11497											
SATB1	6304	broad.mit.edu	37	chr3	18435971	18435971	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacctgagttctgttaaaagCcacacgtgcaaataccgcct	12	9	8	12	2	1	1	0	1	1	0	1	2	1	1	4	0	3	3	4	0	4	3			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr3:18435971C>A	uc003cbh.3	-	6	2924	c.1189G>T	c.(1189-1191)Gct>Tct	p.A397S	SATB1_uc003cbi.3_Missense_Mutation_p.A397S|SATB1_uc003cbj.3_Missense_Mutation_p.A397S	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	397					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CTGTTAAAAGCCACACGTGCA	0.433													46	92					1.61004e-24	1.69054e-24	1	1	0	A	18435971	C	A	18435971	3	1	265	1	0	0	0	0	1	0	0	0	13853	739	26	5	1122	5	SATB1	3	18435971	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08	2716195	18435971	179586459	7	11498											
SLC4A7	9497	broad.mit.edu	37	chr3	27439832	27439832	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccaagaatacaccacgaaGttttttacattcctggaaaa	15	10	5	11	1	0	1	0	0	0	1	1	3	1	2	4	1	2	1	4	1	7	5			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr3:27439832G>C	uc011aww.2	-	16	2661	c.2440C>G	c.(2440-2442)Ctt>Gtt	p.L814V	SLC4A7_uc011awx.2_Missense_Mutation_p.L801V|SLC4A7_uc021wun.1_Missense_Mutation_p.L690V|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Missense_Mutation_p.L797V|SLC4A7_uc011awz.2_Non-coding_Transcript|SLC4A7_uc011axa.2_Missense_Mutation_p.L686V|SLC4A7_uc011axb.2_Missense_Mutation_p.L801V|SLC4A7_uc021wul.1_Non-coding_Transcript|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Non-coding_Transcript|SLC4A7_uc021wum.1_Non-coding_Transcript|SLC4A7_uc003cdu.4_Missense_Mutation_p.L686V|SLC4A7_uc010hfl.3_Missense_Mutation_p.L355V|SLC4A7_uc003cdv.3_Missense_Mutation_p.L805V|SLC4A7_uc003cdw.3_Missense_Mutation_p.L681V	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA.	805						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						ACACCACGAAGTTTTTTACAT	0.363													43	43					0	0	1	0	0	C	27439832	G	C	27439832	3	2	265	1	0	0	0	0	1	0	0	0	14658	1029	36	5	1267	5	SLC4A7	3	27439832	Missense_Mutation	SNP	G	TCGA-HW-8319-01A-11D-2395-08	9003861	27439832	170582598	8	11499											
MYH15	22989	broad.mit.edu	37	chr3	108195254	108195254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcaccttacctgttctataGtttgacctctggtaacatat	10	16	5	10	0	3	1	1	1	2	0	3	1	3	1	3	1	2	3	3	1	5	7			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr3:108195254G>A	uc003dxa.1	-	12	1340	c.1283C>T	c.(1282-1284)aCt>aTt	p.T428I		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	428	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTGTTCTATAGTTTGACCTCT	0.338													26	23					0	0	1	0	0	A	108195254	G	A	108195254	3	1	265	1	0	0	0	0	1	0	0	0	10034	1029	36	3	4677	3	MYH15	3	108195254	Missense_Mutation	SNP	G	TCGA-HW-8319-01A-11D-2395-08	80755422	108195254	89827176	9	11500											
HCN1	348980	broad.mit.edu	37	chr5	45262407	45262407	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcttgtgcacttcatttttCggcgtggagctgccaggtgt	4	15	12	10	2	2	0	1	0	1	0	3	1	2	1	1	3	3	2	1	3	0	4			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr5:45262407C>T	uc003jok.3	-	7	2314	c.2289G>A	c.(2287-2289)ccG>ccA	p.P763P		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	763						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTTCATTTTTCGGCGTGGAGC	0.652													29	31					0	0	1	0	0	T	45262407	C	T	45262407	2	4	265	1	0	0	0	0	0	0	0	1	6996	871	31	2		2	HCN1	5	45262407	Silent	SNP	C	TCGA-HW-8319-01A-11D-2395-08		45262407	135652853	10	11501											
ERAP2	64167	broad.mit.edu	37	chr5	96215430	96215430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttaattcacacagaaaacCaatgtttaacattcacagag	17	10	6	8	0	2	2	2	0	0	2	2	2	2	2	1	1	2	2	1	1	5	5			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr5:96215430C>T	uc003kmq.3	+	1	751	c.41C>T	c.(40-42)cCa>cTa	p.P14L	ERAP1_uc003kmo.1_Intron|ERAP2_uc003kmt.3_Missense_Mutation_p.P14L|ERAP2_uc003kmr.3_Non-coding_Transcript|ERAP2_uc003kms.3_Missense_Mutation_p.P8L|ERAP2_uc003kmu.3_Non-coding_Transcript	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	Homo sapiens endoplasmic reticulum aminopeptidase 2 (ERAP2), transcript variant 1, mRNA.	14					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		CACAGAAAACCAATGTTTAAC	0.373													6	82					0	0	1	0	0	T	96215430	C	T	96215430	3	4	265	1	0	0	0	0	1	0	0	0	5204	594	21	3	43	3	ERAP2	5	96215430	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08	50953023	96215430	84699830	11	11502											
PCDHGC5	56097	broad.mit.edu	37	chr5	140779561	140779561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcgcacaggagaggtgCgcacagcgcgtgccttgggc	6	5	18	12	4	0	1	0	0	0	1	0	2	0	1	1	4	4	3	1	4	0	1			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr5:140779561C>T	uc003lkf.2	+	0	1867	c.1867C>T	c.(1867-1869)Cgc>Tgc	p.R623C	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Missense_Mutation_p.R623C|PCDHGC5_uc011dax.2_5'Flank|PCDHGC5_uc003lkh.2_5'Flank	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	629	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGAGAGGTGCGCACAGCGCG	0.701													23	43					0	0	1	0	0	T	140779561	C	T	140779561	3	4	265	1	0	0	0	0	1	0	0	0	11571	768	27	1		1	PCDHGC5	5	140779561	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08	44564131	140779561	40135699	12	11503											
LIMK1	3984	broad.mit.edu	37	chr7	73511062	73511062	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgagtcctgccatgggtgctCtgagcaaatcaccaagggac	10	7	12	12	1	2	1	1	1	1	0	3	3	3	2	3	2	3	2	3	2	2	0			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr7:73511062C>G	uc003uaa.2	+	2	477	c.263C>G	c.(262-264)tCt>tGt	p.S88C	LIMK1_uc010lbl.2_Non-coding_Transcript|LIMK1_uc003uab.3_Missense_Mutation_p.S54C|LIMK1_uc003uac.1_5'Flank	NM_002314	NP_002305	P53667	LIMK1_HUMAN	Homo sapiens LIM domain kinase 1 (LIMK1), transcript variant 1, mRNA.	88	LIM zinc-binding 2.				Rho protein signal transduction|actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				CATGGGTGCTCTGAGCAAATC	0.597													18	34					0	0	1	0	0	G	73511062	C	G	73511062	3	3	265	1	0	0	0	0	1	0	0	0	8801	913	32	5	273	5	LIMK1	7	73511062	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08		73511062	85627601	13	11504											
LRRCC1	85444	broad.mit.edu	37	chr8	86021973	86021973	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aataagtagaattgaaggacTaaacacactgacaaaactgt	20	8	7	6	0	0	3	0	2	0	1	0	4	0	4	0	1	2	1	0	1	9	4			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr8:86021973T>G	uc003ycw.3	+	1	456	c.248T>G	c.(247-249)cTa>cGa	p.L83R	LRRCC1_uc010lzz.2_Intron|LRRCC1_uc022awx.1_Intron|LRRCC1_uc010maa.2_Intron|LRRCC1_uc003ycy.3_Missense_Mutation_p.L63R	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	83					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ATTGAAGGACTAAACACACTG	0.323													9	11					0	0	1	0	0	G	86021973	T	G	86021973	3	3	265	1	0	0	0	0	1	0	0	0	9026	1522	53	5	254	5	LRRCC1	8	86021973	Missense_Mutation	SNP	T	TCGA-HW-8319-01A-11D-2395-08		86021973	60342049	14	11505											
RASEF	158158	broad.mit.edu	37	chr9	85607825	85607825	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcatcctcactcttaccatgGccagtttctctccaaagtgc	8	12	6	15	0	3	0	1	0	2	0	6	0	5	0	4	1	2	2	4	1	2	2			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr9:85607825G>C	uc004amo.1	-	14	2297	c.2036C>G	c.(2035-2037)gCc>gGc	p.A679G		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA.	679					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	GTP binding|calcium ion binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TCTTACCATGGCCAGTTTCTC	0.473													76	156					0	0	1	0	0	C	85607825	G	C	85607825	3	2	265	1	0	0	0	0	1	0	0	0	13068	1203	42	5	198	5	RASEF	9	85607825	Missense_Mutation	SNP	G	TCGA-HW-8319-01A-11D-2395-08		85607825	55605606	15	11506											
ZNF189	7743	broad.mit.edu	37	chr9	104170609	104170609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatgtgggaaaagttttagtCgcagttcatttgttattgaa	12	16	10	3	1	1	1	1	1	0	0	2	2	1	2	0	1	0	4	0	1	6	6			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr9:104170609C>T	uc004bbh.1	+	2	835	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C	ZNF189_uc004bbg.1_Missense_Mutation_p.R145C|ZNF189_uc004bbi.1_Missense_Mutation_p.R173C|ZNF189_uc011lvk.1_Missense_Mutation_p.R172C|ZNF189_uc022ble.1_Missense_Mutation_p.R92C	NM_003452	NP_932094	O75820	ZN189_HUMAN	Homo sapiens zinc finger protein 189 (ZNF189), transcript variant 1, mRNA.	187					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AAGTTTTAGTCGCAGTTCATT	0.413													37	107					0	0	1	0	0	T	104170609	C	T	104170609	3	4	265	1	0	0	0	0	1	0	0	0	17751	884	31	2	569	2	ZNF189	9	104170609	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08	18562784	104170609	37042822	16	11507											
CAMSAP1	157922	broad.mit.edu	37	chr9	138713009	138713009	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatggagcctgtaactgtcGaagagacacttcccatgtgg	10	10	11	10	1	1	1	1	0	0	1	3	4	2	2	2	2	2	1	2	2	2	2			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr9:138713009G>A	uc004cgr.4	-	10	3498	c.3498C>T	c.(3496-3498)ttC>ttT	p.F1166F	CAMSAP1_uc004cgq.4_Silent_p.F1056F|CAMSAP1_uc010nbg.3_Silent_p.F888F	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	1166						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TGTAACTGTCGAAGAGACACT	0.567													105	108					0	0	1	0	0	A	138713009	G	A	138713009	2	1	265	1	0	0	0	0	0	0	0	1	2611	1049	37	2		2	CAMSAP1	9	138713009	Silent	SNP	G	TCGA-HW-8319-01A-11D-2395-08	34542400	138713009	2500422	17	11508											
MPP7	143098	broad.mit.edu	37	chr10	28345529	28345529	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcacatagggcttaaattcTagtgtccttaaatgcttcac	12	14	6	9	0	3	0	2	0	1	0	4	0	4	0	1	1	1	2	1	1	6	6			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr10:28345529T>C	uc001iua.1	-	17	1835	c.1431A>G	c.(1429-1431)ctA>ctG	p.L477L	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Silent_p.L477L|MPP7_uc009xla.2_Silent_p.L477L|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	477	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						GCTTAAATTCTAGTGTCCTTA	0.333													49	49					0	0	1	0	0	C	28345529	T	C	28345529	2	2	265	1	0	0	0	0	0	0	0	1	9739	1509	53	4		4	MPP7	10	28345529	Silent	SNP	T	TCGA-HW-8319-01A-11D-2395-08		28345529	107189218	18	11509											
DMBT1	1755	broad.mit.edu	37	chr10	124348622	124348622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggctgtggctgggccaCgtcagccccaggaaatgccc	6	6	15	14	1	1	0	1	0	0	0	1	1	1	1	4	4	2	3	4	4	1	0			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr10:124348622C>T	uc001lgk.1	+	16	2052	c.1946C>T	c.(1945-1947)aCg>aTg	p.T649M	DMBT1_uc001lgl.1_Missense_Mutation_p.T639M|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Missense_Mutation_p.T649M|DMBT1_uc021qag.1_Missense_Mutation_p.T639M|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.T649M|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	649	SRCR 5.		T -> M.		epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGCTGGGCCACGTCAGCCCCA	0.612													12	194					0	0	1	0	0	T	124348622	C	T	124348622	3	4	265	1	0	0	0	0	1	0	0	0	4577	536	19	1	2012	1	DMBT1	10	124348622	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08	96003093	124348622	11186125	19	11510											
OR52I2	143502	broad.mit.edu	37	chr11	4608789	4608789	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcattgctgcctcctatatCttaattctcaaggcagtatt	9	17	5	10	0	3	0	2	0	2	0	5	0	4	0	2	1	2	3	2	1	5	8			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr11:4608789C>G	uc010qyh.2	+	0	769	c.747C>G	c.(745-747)atC>atG	p.I249M		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTCCTATATCTTAATTCTCA	0.488													64	44					0	0	1	0	0	G	4608789	C	G	4608789	3	3	265	1	0	0	0	0	1	0	0	0	11121	903	32	5	749	5	OR52I2	11	4608789	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08		4608789	130397727	20	11511											
OR51L1	119682	broad.mit.edu	37	chr11	5021019	5021019	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccatcgctttgggaagcaTctgtctcccatagtccacat	8	12	8	13	1	2	0	0	0	2	0	6	1	4	1	3	1	1	2	3	1	2	2			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr11:5021019T>C	uc010qyu.2	+	0	807	c.807T>C	c.(805-807)caT>caC	p.H269H		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGGAAGCATCTGTCTCCCA	0.463													5	34					0	0	1	0	0	C	5021019	T	C	5021019	2	2	265	1	0	0	0	0	0	0	0	1	11102	1432	50	3		3	OR51L1	11	5021019	Silent	SNP	T	TCGA-HW-8319-01A-11D-2395-08	412230	5021019	129985497	21	11512											
MRGPRX3	117195	broad.mit.edu	37	chr11	18159642	18159642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagggctctgcaggacaCgcctgaggtggatgaaggtg	9	6	17	9	1	1	3	0	2	1	1	1	5	1	5	2	5	1	2	2	5	1	0			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr11:18159642C>T	uc021qek.1	+	0	893	c.893C>T	c.(892-894)aCg>aTg	p.T298M	MRGPRX3_uc001mnu.3_Missense_Mutation_p.T298M	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	Homo sapiens MAS-related GPR, member X3 (MRGPRX3), mRNA.	298						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T298M(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CTGCAGGACACGCCTGAGGTG	0.562													28	11					0	0	1	0	0	T	18159642	C	T	18159642	3	4	265	1	0	0	0	0	1	0	0	0	9768	536	19	1	895	1	MRGPRX3	11	18159642	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08	13138623	18159642	116846874	22	11513											
OR9G4	283189	broad.mit.edu	37	chr11	56510829	56510829	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaagcccagtacagagggcGgtggacatggtacctgaata	13	6	13	9	1	0	2	0	1	0	1	0	3	0	3	2	4	3	2	2	4	5	3	rs149257582		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr11:56510829G>A	uc010rjo.2	-	0	459	c.459C>T	c.(457-459)acC>acT	p.T153T		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TACAGAGGGCGGTGGACATGG	0.478													13	175					0	0	1	0	0	A	56510829	G	A	56510829	2	1	265	1	0	0	0	0	0	0	0	1	11251	1103	39	2		2	OR9G4	11	56510829	Silent	SNP	G	TCGA-HW-8319-01A-11D-2395-08	38351187	56510829	78495687	23	11514											
SH2B3	10019	broad.mit.edu	37	chr12	111885310	111885310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agagcgagacgcggcgtgggGaatacgtgctcactttcaac	10	7	14	10	5	2	2	2	0	0	2	2	4	2	3	0	3	4	1	0	3	3	2	rs72650673	byFrequency	TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr12:111885310G>A	uc001tsf.3	+	4	1228	c.1201G>A	c.(1201-1203)Gaa>Aaa	p.E401K	SH2B3_uc001tse.3_Missense_Mutation_p.E400K|SH2B3_uc010syf.2_Missense_Mutation_p.E400K|SH2B3_uc010syg.2_Missense_Mutation_p.E198K	NM_005475	NP_005466	Q9UQQ2	SH2B3_HUMAN	Homo sapiens SH2B adaptor protein 3 (SH2B3), mRNA.	400	SH2.				blood coagulation	cytosol	signal transducer activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						GCGGCGTGGGGAATACGTGCT	0.632													5	93					0	0	1	0	0	A	111885310	G	A	111885310	3	1	265	1	0	0	0	0	1	0	0	0	14229	1175	41	3	1216	3	SH2B3	12	111885310	Missense_Mutation	SNP	G	TCGA-HW-8319-01A-11D-2395-08		111885310	21966585	24	11515											
SDR39U1	56948	broad.mit.edu	37	chr14	24912008	24912008	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaacgcgcctgcgtaaagtTtagagtttacctcacctcag	10	11	8	12	3	2	1	2	0	0	1	2	1	2	1	3	0	3	3	3	0	5	6	rs17184766	by1000genomes	TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr14:24912008T>C	uc001wpm.3	-	1	1	c.-31_splice	c.e1-1		SDR39U1_uc001wpi.3_5'Flank|AK056368_uc001wpo.1_5'Flank	NM_020195	NP_064580	Q9NRG7	D39U1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 39U, member 1 (SDR39U1), mRNA.								binding			NS(1)|central_nervous_system(1)|large_intestine(2)|pancreas(1)	5						TGCGTAAAGTTTAGAGTTTAC	0.582													7	133					0	0	1	0	0	C	24912008	T	C	24912008	5	2	265	1	0	0	0	0	0	0	1	0	13972	1856	64	3		3	SDR39U1	14	24912008	Splice_Site	SNP	T	TCGA-HW-8319-01A-11D-2395-08		24912008	82437532	25	11516											
AKAP5	9495	broad.mit.edu	37	chr14	64936370	64936374	+	Frame_Shift_Del	DEL	AATAA	AATAA	-																															atgaaatggcctctgatgatAataaaataaacaatcttcta																										TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr14:64936370_64936374delAATAA	uc021ruk.1	+	0	1258_1262	c.1258_1262delAATAA	c.(1258-1263)aataaafs	p.N420fs	ZBTB25_uc001xhc.3_Intron|AKAP5_uc001xhd.4_Frame_Shift_Del_p.N420fs	NM_004857	NP_004848	P24588	AKAP5_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 5 (AKAP5), mRNA.	420					energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		CTCTGATGATAATAAAATAAACAAT	0.341													21	86	---	---	---	---						-	64936374	AATAA	-	64936370	7	5	265	1	0	1	0	1	0	0	0	0	454	362	13	0	1260	0	AKAP5	14	64936370	Frame_Shift_Del	DEL	AATAA	TCGA-HW-8319-01A-11D-2395-08	40024362	64936370	42413170	26	11517											
PTGR2	145482	broad.mit.edu	37	chr14	74347933	74347933	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatttctggtattaaattatAaagacaaatttgagcctggc	14	14	8	5	0	1	2	0	1	1	1	1	3	1	2	1	2	1	1	1	2	7	6			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr14:74347933A>G	uc001xow.3	+	7	1037	c.877A>G	c.(877-879)Aaa>Gaa	p.K293E	PTGR2_uc010tue.2_Missense_Mutation_p.K293E|PTGR2_uc001xox.3_Missense_Mutation_p.K293E|ZNF410_uc001xoy.2_Non-coding_Transcript	NM_001146154	NP_689657	Q8N8N7	PTGR2_HUMAN	Homo sapiens prostaglandin reductase 2 (PTGR2), transcript variant 2, mRNA.	293					prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9						ATTAAATTATAAAGACAAATT	0.358													48	55					0	0	1	0	0	G	74347933	A	G	74347933	3	3	265	1	0	0	0	0	1	0	0	0	12754	363	13	3	903	3	PTGR2	14	74347933	Missense_Mutation	SNP	A	TCGA-HW-8319-01A-11D-2395-08	9411563	74347933	33001607	27	11518											
ISLR	3671	broad.mit.edu	37	chr15	74467824	74467824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccggagcaggacaacatcGcctgcacctcaccccatgtg	9	6	9	17	2	1	0	1	0	0	0	3	2	2	2	5	2	3	2	5	2	1	0			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr15:74467824G>A	uc002axg.1	+	1	907	c.625G>A	c.(625-627)Gcc>Acc	p.A209T	ISLR_uc002axh.1_Missense_Mutation_p.A209T|ISLR_uc021sqf.1_Missense_Mutation_p.A209T	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	209	LRRCT.				cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GGACAACATCGCCTGCACCTC	0.652													12	48					0	0	1	0	0	A	74467824	G	A	74467824	3	1	265	1	0	0	0	0	1	0	0	0	7858	1087	38	1	627	1	ISLR	15	74467824	Missense_Mutation	SNP	G	TCGA-HW-8319-01A-11D-2395-08		74467824	28063568	28	11519											
CRAMP1L	57585	broad.mit.edu	37	chr16	1706072	1706072	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaagcagagtgccaaggaCgcccacgtgctgcccccagc	9	4	12	16	2	0	1	0	0	0	1	0	2	0	2	4	1	6	3	4	1	2	0			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr16:1706072C>T	uc010uvh.2	+	8	1314	c.1314C>T	c.(1312-1314)gaC>gaT	p.D438D	CRAMP1L_uc002cmf.3_Intron	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Homo sapiens Crm, cramped-like (Drosophila) (CRAMP1L), mRNA.	438						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GTGCCAAGGACGCCCACGTGC	0.706													10	16					0	0	1	0	0	T	1706072	C	T	1706072	2	4	265	1	0	0	0	0	0	0	0	1	3846	535	19	1		1	CRAMP1L	16	1706072	Silent	SNP	C	TCGA-HW-8319-01A-11D-2395-08		1706072	88648681	29	11520											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr17:7577538C>T	uc002gim.2	-	6	937	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.3_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q|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.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			24	36					0	0	1	0	0	T	7577538	C	T	7577538	3	4	265	1	0	0	0	0	1	0	0	0	16378	652	23	2	547	2	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08		7577538	73617672	30	11521											
TP53	7157	broad.mit.edu	37	chr17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcaaatttccttccactcGgataagatgctgaggagggg	11	9	12	9	2	0	2	0	1	0	1	3	4	2	4	2	4	1	2	2	4	2	3			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr17:7578263G>A	uc002gim.2	-	5	780	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.3_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.2_Nonsense_Mutation_p.R157*|DL476358_uc021tph.1_Non-coding_Transcript	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R196*(312)|p.I195T(67)|p.I195F(18)|p.R196P(14)|p.R64*(14)|p.R103*(14)|p.I195N(12)|p.R196fs*51(12)|p.R196R(8)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.I195S(6)|p.?(5)|p.P191_E198>Q(4)|p.I195fs*52(4)|p.I195fs*14(4)|p.R196Q(3)|p.I195fs*12(2)|p.I195fs*50(2)|p.I195_G199delIRVEG(2)|p.K164_P219del(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I195M(1)|p.R196L(1)|p.P98_E105>Q(1)|p.I195L(1)|p.H193_I195>AP(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)		CCTTCCACTCGGATAAGATGC	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	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)			24	22					0	0	1	0	0	A	7578263	G	A	7578263	4	1	265	1	0	0	0	0	0	1	0	0	16378	1124	39	2	708	2	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-HW-8319-01A-11D-2395-08	725	7578263	73616947	31	11522											
CANT1	124583	broad.mit.edu	37	chr17	76991172	76991172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttctcgtggtccacgctgcCcttgtagcccaccaccttca	5	11	8	17	2	2	0	1	0	1	0	4	0	3	0	5	1	2	3	5	1	1	4			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr17:76991172C>T	uc002jwj.3	-	2	1258	c.763G>A	c.(763-765)Ggc>Agc	p.G255S	CANT1_uc002jwn.3_Missense_Mutation_p.G255S|CANT1_uc002jwk.3_Missense_Mutation_p.G255S|CANT1_uc002jwl.2_Intron	NM_138793	NP_620148	Q8WVQ1	CANT1_HUMAN	Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 1, mRNA.	255					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi cisterna membrane|endoplasmic reticulum membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			TCCACGCTGCCCTTGTAGCCC	0.652			T	ETV4	prostate								3	3					0	0	1	0	0	T	76991172	C	T	76991172	3	4	265	1	0	0	0	0	1	0	0	0	2617	623	22	3	450	3	CANT1	17	76991172	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08	69412909	76991172	4204038	32	11523											
ZC3H4	23211	broad.mit.edu	37	chr19	47570840	47570840	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcgggcttggaggtgggcagGgcgcgagccagccgaggatc	6	5	20	10	4	0	0	0	0	0	0	2	4	0	2	2	6	2	2	2	6	0	1			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr19:47570840G>A	uc002pga.4	-	14	2723	c.2685C>T	c.(2683-2685)gcC>gcT	p.A895A	ZC3H4_uc002pgb.1_Intron	NM_015168	NP_055983	Q9UPT8	ZC3H4_HUMAN	Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA.	895							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		AGGTGGGCAGGGCGCGAGCCA	0.701													13	19					0	0	1	0	0	A	47570840	G	A	47570840	2	1	265	1	0	0	0	0	0	0	0	1	17567	1219	43	3		3	ZC3H4	19	47570840	Silent	SNP	G	TCGA-HW-8319-01A-11D-2395-08		47570840	11558143	33	11524											
MYH7B	57644	broad.mit.edu	37	chr20	33581234	33581234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcgcggagccgtggccGcctcatgcgccttgagtacc	5	6	15	15	5	1	1	1	1	0	0	1	2	1	2	5	3	3	2	5	3	1	2			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr20:33581234G>A	uc002xbi.2	+	25	2848	c.2531G>A	c.(2530-2532)cGc>cAc	p.R844H	MIR499B_uc021wch.1_5'Flank	NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	802						membrane|myosin filament	ATP binding|actin binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGCCGTGGCCGCCTCATGCGC	0.672													14	18					0	0	1	0	0	A	33581234	G	A	33581234	3	1	265	1	0	0	0	0	1	0	0	0	10040	1087	38	1	2625	1	MYH7B	20	33581234	Missense_Mutation	SNP	G	TCGA-HW-8319-01A-11D-2395-08		33581234	29444286	34	11525											
DGCR2	9993	broad.mit.edu	37	chr22	19026633	19026633	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggctcaaaagcatcatcGtctgcaggaagagacagagg	15	5	12	9	1	3	2	2	0	1	2	4	4	3	3	0	3	2	3	0	3	3	0	rs146027196		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr22:19026633G>A	uc002zoq.1	-	10	1645	c.1397_splice	c.e10-1	p.D466_splice	DGCR2_uc021wkx.1_Splice_Site_p.D463_splice|DGCR2_uc021wky.1_Splice_Site_p.D425_splice|DGCR2_uc021wkz.1_Splice_Site_p.D242_splice|DGCR2_uc011agr.1_Splice_Site_p.D422_splice|DGCR2_uc002zor.1_Splice_Site_p.D242_splice	NM_005137	NP_005128	P98153	IDD_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 2 (DGCR2), transcript variant 1, mRNA.	466					cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding	p.D466D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					AAGCATCATCGTCTGCAGGAA	0.622													12	31					0	0	1	0	0	A	19026633	G	A	19026633	5	1	265	1	0	0	0	0	0	0	1	0	4461	1159	40	1	258	1	DGCR2	22	19026633	Splice_Site	SNP	G	TCGA-HW-8319-01A-11D-2395-08		19026633	32277933	35	11526											
CXorf26	51260	broad.mit.edu	37	chrX	75396760	75396760	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaatgggattgttgaagaCttcaactatggtactttgct	10	17	9	5	0	1	2	1	1	0	1	1	3	1	3	0	2	3	3	0	2	5	8			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chrX:75396760C>G	uc004ecl.1	+	4	545	c.342C>G	c.(340-342)gaC>gaG	p.D114E		NM_016500	NP_057584	Q9BVG4	CX026_HUMAN	Homo sapiens chromosome X open reading frame 26 (CXorf26), mRNA.	114										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)	14						TTGTTGAAGACTTCAACTATG	0.423													27	80					0	0	1	0	0	G	75396760	C	G	75396760	3	3	265	1	0	0	0	0	1	0	0	0	4104	564	20	5	360	5	CXorf26	23	75396760	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08		75396760	79873800	36	11527											
ATRX	546	broad.mit.edu	37	chrX	76940431	76940431	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcatctatattacctacCtacattgttcatccattcca	11	15	2	13	0	3	0	2	0	1	0	5	0	5	0	4	0	4	2	4	0	5	8			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chrX:76940431C>T	uc004ecp.4	-	8	894	c.662_splice	c.e8+1	p.R221_splice	ATRX_uc004ecq.4_Splice_Site_p.R183_splice|ATRX_uc004eco.4_Splice_Site_p.R6_splice|ATRX_uc004ecr.2_Splice_Site_p.R182_splice|ATRX_uc010nlx.1_Splice_Site_p.R221_splice|ATRX_uc010nly.1_Splice_Site_p.R166_splice	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	221	ADD.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TATTACCTACCTACATTGTTC	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						36	62					0	0	1	0	0	T	76940431	C	T	76940431	5	4	265	1	0	0	0	0	0	0	1	0	1208	695	24	3	6928	3	ATRX	23	76940431	Splice_Site	SNP	C	TCGA-HW-8319-01A-11D-2395-08	1543671	76940431	78330129	37	11528											
PLS3	5358	broad.mit.edu	37	chrX	114882253	114882253	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttggcagttgtggatttaaTtgatgccatccagccaggct	8	14	11	8	0	0	1	0	1	0	0	1	2	1	2	3	3	2	3	3	3	1	5			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chrX:114882253T>G	uc004eqe.3	+	14	1810	c.1676T>G	c.(1675-1677)aTt>aGt	p.I559S	PLS3_uc004eqd.3_Missense_Mutation_p.I559S|PLS3_uc011mtf.2_Missense_Mutation_p.I546S|PLS3_uc011mth.2_Missense_Mutation_p.I514S|PLS3_uc011mtg.2_Missense_Mutation_p.I532S|PLS3_uc011mti.2_Missense_Mutation_p.I235S|PLS3_uc011mtj.2_Missense_Mutation_p.I153S|PLS3_uc011mtl.2_Non-coding_Transcript	NM_001136025	NP_005023	P13797	PLST_HUMAN	Homo sapiens plastin 3 (PLS3), transcript variant 2, mRNA.	559	Actin-binding 2.|CH 4.					cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						GTGGATTTAATTGATGCCATC	0.403													61	94					0	0	1	0	0	G	114882253	T	G	114882253	3	3	265	1	0	0	0	0	1	0	0	0	12108	1493	52	5	1730	5	PLS3	23	114882253	Missense_Mutation	SNP	T	TCGA-HW-8319-01A-11D-2395-08	37941822	114882253	40388307	38	11529											
ZNF275	10838	broad.mit.edu	37	chrX	152612569	152612569	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggtctttaggggggtggcGgagtttaatgagcacaggaa	11	9	17	4	1	1	1	0	1	1	0	1	3	1	3	0	7	1	2	0	7	4	4			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chrX:152612569G>A	uc011myn.2	+	1	1139	c.237G>A	c.(235-237)gcG>gcA	p.A79A	ZNF275_uc004fhg.2_Silent_p.A142A|ZNF275_uc022cht.1_Silent_p.A79A|ZNF275_uc022chu.1_5'Flank	NM_001080485	NP_001073954	A6NFS0	A6NFS0_HUMAN	Homo sapiens zinc finger protein 275 (ZNF275), mRNA.	142						intracellular	nucleic acid binding|zinc ion binding	p.G79G(1)		endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGGGGTGGCGGAGTTTAATG	0.607													16	18					0	0	1	0	0	A	152612569	G	A	152612569	2	1	265	1	0	0	0	0	0	0	0	1	17807	1103	39	2		2	ZNF275	23	152612569	Silent	SNP	G	TCGA-HW-8319-01A-11D-2395-08	37730316	152612569	2657991	39	11530											
SLC2A7	155184	broad.mit.edu	37	chr1	9085133	9085133	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacagcgtcggctggagccGctgtaggagacaagtccaag	11	5	14	11	3	0	1	0	0	0	1	2	3	1	2	2	3	3	3	2	3	4	1			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr1:9085133G>A	uc009vmo.1	-	2	52	c.52_splice	c.e2-1	p.R18_splice		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA.	18						integral to membrane|plasma membrane	sugar transmembrane transporter activity	p.R18W(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GGCTGGAGCCGCTGTAGGAGA	0.652													6	44					0	0	1	0	0	A	9085133	G	A	9085133	5	1	266	1	0	0	0	0	0	0	1	0	14550	1101	38	1	1530	1	SLC2A7	1	9085133	Splice_Site	SNP	G	TCGA-HW-8320-01A-11D-2395-08		9085133	240165488	1	11531											
MED18	54797	broad.mit.edu	37	chr1	28661302	28661302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatggtgtacaagattttcCgcatcctggtgccagggaac	9	12	11	9	1	0	1	0	0	0	1	2	2	2	2	3	3	3	2	3	3	4	4			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr1:28661302C>T	uc021okc.1	+	2	714	c.469C>T	c.(469-471)Cgc>Tgc	p.R157C	MED18_uc001bpt.4_Missense_Mutation_p.R150C|MED18_uc009vtg.3_Missense_Mutation_p.R150C	NM_017638	NP_060108	Q9BUE0	MED18_HUMAN	Homo sapiens mediator complex subunit 18 (MED18), transcript variant 1, mRNA.	150					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	identical protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGATTTTCCGCATCCTGGT	0.502													4	84					0	0	1	0	0	T	28661302	C	T	28661302	3	4	266	1	0	0	0	0	1	0	0	0	9436	652	23	2	454	2	MED18	1	28661302	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08	19576169	28661302	220589319	2	11532											
CLCA1	1179	broad.mit.edu	37	chr1	86957002	86957002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaacaatggcctcattgatgCttttggggccctttcatcag	8	13	10	10	0	3	1	3	1	0	0	3	2	3	1	2	3	2	1	2	3	2	4			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr1:86957002C>T	uc001dlt.3	+	8	1672	c.1412C>T	c.(1411-1413)gCt>gTt	p.A471V	CLCA1_uc001dls.1_Missense_Mutation_p.A410V	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	471	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CTCATTGATGCTTTTGGGGCC	0.383													5	41					0	0	1	0	0	T	86957002	C	T	86957002	3	4	266	1	0	0	0	0	1	0	0	0	3457	797	28	3	1446	3	CLCA1	1	86957002	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08	58295700	86957002	162293619	3	11533											
HMCN1	83872	broad.mit.edu	37	chr1	186056428	186056428	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagctatcaatcaagctggCgaaagcaagaaaaagttttc	17	9	8	7	1	2	1	2	0	0	1	3	2	2	1	0	1	3	4	0	1	8	4			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr1:186056428C>T	uc001grq.1	+	58	9355	c.9126C>T	c.(9124-9126)ggC>ggT	p.G3042G	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3042	Ig-like C2-type 28.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATCAAGCTGGCGAAAGCAAGA	0.348													39	39					0	0	1	0	0	T	186056428	C	T	186056428	2	4	266	1	0	0	0	0	0	0	0	1	7220	755	27	1		1	HMCN1	1	186056428	Silent	SNP	C	TCGA-HW-8320-01A-11D-2395-08	99099426	186056428	63194193	4	11534											
USH2A	7399	broad.mit.edu	37	chr1	216062131	216062131	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atcccttccggtgcccctggGagtgtccatacagtctggga	6	10	12	13	1	1	0	0	0	1	0	4	2	4	2	5	3	2	0	5	3	1	2			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr1:216062131G>A	uc001hku.1	-	40	8247	c.7860C>T	c.(7858-7860)ctC>ctT	p.L2620L		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2620					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTGCCCCTGGGAGTGTCCATA	0.502										HNSCC(13;0.011)			21	47					0	0	1	0	0	A	216062131	G	A	216062131	2	1	266	1	0	0	0	0	0	0	0	1	17033	1161	41	3		3	USH2A	1	216062131	Silent	SNP	G	TCGA-HW-8320-01A-11D-2395-08	30005703	216062131	33188490	5	11535											
SNTG2	54221	broad.mit.edu	37	chr2	1079270	1079270	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctatgacatccggctgaagCtgacgaaagaggtgctgaca	12	7	12	10	2	0	5	0	4	0	1	1	6	1	5	2	2	2	3	2	2	3	1			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr2:1079270C>G	uc002qwq.3	+	1	268	c.139C>G	c.(139-141)Ctg>Gtg	p.L47V	SNTG2_uc002qwp.3_Non-coding_Transcript|SNTG2_uc010ewi.3_Missense_Mutation_p.L47V	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	47					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CCGGCTGAAGCTGACGAAAGA	0.463													4	92					0	0	1	0	0	G	1079270	C	G	1079270	3	3	266	1	0	0	0	0	1	0	0	0	14875	796	28	5	145	5	SNTG2	2	1079270	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08		1079270	242120103	6	11536											
BIRC6	57448	broad.mit.edu	37	chr2	32819095	32819095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactgctgagatagtttatgCagccaccaccagtttgcggc	9	10	11	11	1	0	1	0	1	0	1	0	3	0	1	3	1	4	4	3	1	2	4			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr2:32819095C>T	uc010ezu.3	+	66	13603	c.13469C>T	c.(13468-13470)gCa>gTa	p.A4490V		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	4490					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATAGTTTATGCAGCCACCACC	0.388													4	47					0	0	1	0	0	T	32819095	C	T	32819095	3	4	266	1	0	0	0	0	1	0	0	0	1438	710	25	3	13735	3	BIRC6	2	32819095	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08	31739825	32819095	210380278	7	11537											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								29	41					0	0	1	0	0	T	209113112	C	T	209113112	3	4	266	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08	176294017	209113112	34086261	8	11538											
ALPPL2	251	broad.mit.edu	37	chr2	233274354	233274354	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgcaggcgaggacgtggcGgtgttcgcgcgcggcccgca	5	4	18	14	9	0	0	0	0	0	0	1	2	0	1	1	5	0	3	1	5	0	1			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr2:233274354G>A	uc002vss.4	+	10	1424	c.1371G>A	c.(1369-1371)gcG>gcA	p.A457A		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	457					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	AGGACGTGGCGGTGTTCGCGC	0.667													14	15					0	0	1	0	0	A	233274354	G	A	233274354	2	1	266	1	0	0	0	0	0	0	0	1	549	1103	39	2		2	ALPPL2	2	233274354	Silent	SNP	G	TCGA-HW-8320-01A-11D-2395-08	24161242	233274354	9925019	9	11539											
CELSR3	1951	broad.mit.edu	37	chr3	48699299	48699299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggggtgctgaacctgatgCaggagctgtcctcgccgtgc	5	8	16	12	3	0	2	0	2	0	0	2	3	1	3	3	3	5	3	3	3	1	0			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr3:48699299C>T	uc003cuf.1	-	2	979	c.979G>A	c.(979-981)Gca>Aca	p.A327T	CELSR3_uc003cul.3_Missense_Mutation_p.A257T	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	257	Cadherin 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAACCTGATGCAGGAGCTGTC	0.701													10	105					0	0	1	0	0	T	48699299	C	T	48699299	3	4	266	1	0	0	0	0	1	0	0	0	3223	710	25	3	9309	3	CELSR3	3	48699299	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08		48699299	149323131	10	11540											
VPS8	23355	broad.mit.edu	37	chr3	184714255	184714255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgcagcagtacaagagaCgccaagaaatggctgatgaa	15	7	12	7	1	0	4	0	2	0	2	0	5	0	4	1	1	3	5	1	1	5	2			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr3:184714255C>T	uc021xik.1	+	42	3890	c.3802C>T	c.(3802-3804)Cgc>Tgc	p.R1268C	VPS8_uc003fpb.1_Missense_Mutation_p.R1266C|VPS8_uc010hyd.1_Missense_Mutation_p.R1176C|VPS8_uc010hye.1_Missense_Mutation_p.R695C	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.	1268							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GTACAAGAGACGCCAAGAAAT	0.413													8	39					0	0	1	0	0	T	184714255	C	T	184714255	3	4	266	1	0	0	0	0	1	0	0	0	17215	536	19	1	3968	1	VPS8	3	184714255	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08	136014956	184714255	13308175	11	11541											
TBC1D19	55296	broad.mit.edu	37	chr4	26640408	26640408	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagaggccagttggagaaCagaaagaacttcttaataaa	17	8	9	7	0	1	4	0	0	1	4	2	5	2	4	2	2	2	1	2	2	6	4			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr4:26640408C>T	uc003gsf.4	+	5	655	c.385C>T	c.(385-387)Cag>Tag	p.Q129*	TBC1D19_uc010iew.3_Nonsense_Mutation_p.Q129*|TBC1D19_uc011bxu.2_Nonsense_Mutation_p.Q64*	NM_018317	NP_060787	Q8N5T2	TBC19_HUMAN	Homo sapiens TBC1 domain family, member 19 (TBC1D19), mRNA.	129						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				AGTTGGAGAACAGAAAGAACT	0.308													22	30					0	0	1	0	0	T	26640408	C	T	26640408	4	4	266	1	0	0	0	0	0	1	0	0	15604	479	17	3	407	3	TBC1D19	4	26640408	Nonsense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08		26640408	164513868	12	11542											
ENPEP	2028	broad.mit.edu	37	chr4	111397908	111397908	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcccctgttggaggaggAcacctacacgggcaccgtga	10	5	14	12	2	0	1	0	1	0	0	0	5	0	4	4	4	2	2	4	4	2	2			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr4:111397908A>G	uc003iab.4	+	0	680	c.338A>G	c.(337-339)gAc>gGc	p.D113G		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	113					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)	TTGGAGGAGGACACCTACACG	0.622													24	170					0	0	1	0	0	G	111397908	A	G	111397908	3	3	266	1	0	0	0	0	1	0	0	0	5128	275	10	3	340	3	ENPEP	4	111397908	Missense_Mutation	SNP	A	TCGA-HW-8320-01A-11D-2395-08	84757500	111397908	79756368	13	11543											
NPY2R	4887	broad.mit.edu	37	chr4	156135956	156135956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcctctccatgccttccagCttgccgttgacattgacagc	6	12	8	15	1	1	2	0	2	1	0	3	2	2	2	5	0	5	2	5	0	0	4			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr4:156135956C>T	uc003ioq.3	+	1	1354	c.865C>T	c.(865-867)Ctt>Ttt	p.L289F	NPY2R_uc003ior.3_Missense_Mutation_p.L289F|NPY2R_uc021xtm.1_Missense_Mutation_p.L289F	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	289					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				TGCCTTCCAGCTTGCCGTTGA	0.517													10	38					0	0	1	0	0	T	156135956	C	T	156135956	3	4	266	1	0	0	0	0	1	0	0	0	10609	797	28	3	867	3	NPY2R	4	156135956	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08	44738048	156135956	35018320	14	11544											
PLEKHG4B	153478	broad.mit.edu	37	chr5	182353	182353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgtcgaggaagatgagcCagagccagaactagagacgg	13	4	15	9	3	0	5	0	1	0	4	1	8	0	6	2	2	4	0	2	2	3	1			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr5:182353C>T	uc003jak.2	+	17	3781	c.3731C>T	c.(3730-3732)cCa>cTa	p.P1244L		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	1244					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GAAGATGAGCCAGAGCCAGAA	0.652													7	39					0	0	1	0	0	T	182353	C	T	182353	3	4	266	1	0	0	0	0	1	0	0	0	12072	594	21	3	3801	3	PLEKHG4B	5	182353	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08		182353	180732907	15	11545											
ADAM28	10863	broad.mit.edu	37	chr8	24193003	24193003	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaccagcaaaagatgagtgCgacctgcctgaaatgtgtaa	15	7	11	8	1	0	4	0	2	0	2	0	5	0	4	3	0	3	2	3	0	4	1			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr8:24193003C>T	uc003xdy.3	+	13	1499	c.1416C>T	c.(1414-1416)tgC>tgT	p.C472C	ADAM28_uc003xdx.3_Silent_p.C472C|ADAM28_uc011kzz.2_Silent_p.C239C|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.C159C	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	472	Disintegrin.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AAGATGAGTGCGACCTGCCTG	0.433													8	31					0	0	1	0	0	T	24193003	C	T	24193003	2	4	266	1	0	0	0	0	0	0	0	1	246	776	27	1		1	ADAM28	8	24193003	Silent	SNP	C	TCGA-HW-8320-01A-11D-2395-08		24193003	122171019	16	11546											
ZFHX4	79776	broad.mit.edu	37	chr8	77616608	77616608	+	Frame_Shift_Del	DEL	C	C	-																															tttcccagtttacagaaataCatggaacaccactgccctaa																										TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr8:77616608delC	uc003yau.2	+	1	672	c.285delC	c.(283-285)tacfs	p.Y95fs	ZFHX4_uc003yat.1_Frame_Shift_Del_p.Y95fs|ZFHX4_uc003yaw.1_Frame_Shift_Del_p.Y95fs	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	95						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TACAGAAATACATGGAACACC	0.498										HNSCC(33;0.089)			94	165	---	---	---	---						-	77616608	C	-	77616608	7	5	266	1	0	1	0	1	0	0	0	0	17632	489	17	0	287	0	ZFHX4	8	77616608	Frame_Shift_Del	DEL	C	TCGA-HW-8320-01A-11D-2395-08	53423605	77616608	68747414	17	11547											
ANGPT1	284	broad.mit.edu	37	chr8	108306212	108306212	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatctagacttccatcttcAcgatgttgtattacagtcca	12	14	5	10	1	3	1	1	0	2	1	5	2	5	1	2	0	1	2	2	0	4	6			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr8:108306212A>G	uc003ymn.3	-	5	1458	c.990T>C	c.(988-990)cgT>cgC	p.R330R	ANGPT1_uc011lhv.2_Silent_p.R130R|ANGPT1_uc003ymo.3_Silent_p.R329R|ANGPT1_uc003ymp.4_Silent_p.R129R	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	330	Fibrinogen C-terminal.				Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TTCCATCTTCACGATGTTGTA	0.343													17	70					0	0	1	0	0	G	108306212	A	G	108306212	2	3	266	1	0	0	0	0	0	0	0	1	610	146	6	3		3	ANGPT1	8	108306212	Silent	SNP	A	TCGA-HW-8320-01A-11D-2395-08	30689604	108306212	38057810	18	11548											
EPPK1	83481	broad.mit.edu	37	chr8	144940776	144940776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctccaggtagcgcttgaCgcggtcgtcctccatgagct	5	9	12	15	4	0	2	0	2	0	0	4	2	3	2	4	2	2	3	4	2	1	2			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr8:144940776C>T	uc003zaa.1	-	0	6659	c.6646G>A	c.(6646-6648)Gtc>Atc	p.V2216I		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2216						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TAGCGCTTGACGCGGTCGTCC	0.627													41	175					0	0	1	0	0	T	144940776	C	T	144940776	3	4	266	1	0	0	0	0	1	0	0	0	5190	536	19	1	620	1	EPPK1	8	144940776	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08	36634564	144940776	1423246	19	11549											
SPAG8	26206	broad.mit.edu	37	chr9	35811425	35811425	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacaggggctgagctcagaGtcagggccagtgtctggacc	9	7	15	10	0	3	2	2	1	1	1	3	3	3	3	2	4	2	2	2	4	1	1			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr9:35811425G>A	uc003zye.3	-	1	733	c.618C>T	c.(616-618)gaC>gaT	p.D206D	SPAG8_uc003zyg.3_Silent_p.D206D	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	Homo sapiens sperm associated antigen 8 (SPAG8), transcript variant 2, mRNA.	206						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			TGAGCTCAGAGTCAGGGCCAG	0.627													32	133					0	0	1	0	0	A	35811425	G	A	35811425	2	1	266	1	0	0	0	0	0	0	0	1	14984	1020	36	3		3	SPAG8	9	35811425	Silent	SNP	G	TCGA-HW-8320-01A-11D-2395-08		35811425	105402006	20	11550											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112898643	112898643	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctccttactgatcaccaCgaatccctggataatgatgt	10	11	8	12	1	1	2	1	2	0	0	3	4	3	3	4	2	1	0	4	2	3	2			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr9:112898643C>T	uc004bei.2	+	8	1707	c.1515C>T	c.(1513-1515)caC>caT	p.H505H	PALM2-AKAP2_uc004bej.4_Silent_p.H273H|PALM2-AKAP2_uc004bek.4_Silent_p.H273H|PALM2-AKAP2_uc004bel.1_Silent_p.H83H|PALM2-AKAP2_uc011lwi.2_Silent_p.H131H|PALM2-AKAP2_uc004bem.3_Silent_p.H131H|PALM2-AKAP2_uc010mtw.1_Silent_p.H91H|PALM2-AKAP2_uc011lwj.2_Silent_p.H42H|PALM2-AKAP2_uc004ben.3_Silent_p.H42H	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	42							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CTGATCACCACGAATCCCTGG	0.493													92	104					0	0	1	0	0	T	112898643	C	T	112898643	2	4	266	1	0	0	0	0	0	0	0	1	11410	535	19	1		1	PALM2-AKAP2	9	112898643	Silent	SNP	C	TCGA-HW-8320-01A-11D-2395-08	77087218	112898643	28314788	21	11551											
ZNF33B	7582	broad.mit.edu	37	chr10	43088769	43088769	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccctgtgtgcgttctctgAtgtattgtgaggtctgactt	4	17	11	9	1	2	3	0	3	2	0	4	3	3	3	2	1	1	2	2	1	1	4			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr10:43088769A>G	uc001jaf.1	-	4	1744	c.1629T>C	c.(1627-1629)caT>caC	p.H543H	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Silent_p.H431H|ZNF33B_uc001jad.3_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	Homo sapiens zinc finger protein 33B (ZNF33B), mRNA.	543						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						GCGTTCTCTGATGTATTGTGA	0.428													23	110					0	0	1	0	0	G	43088769	A	G	43088769	2	3	266	1	0	0	0	0	0	0	0	1	17852	330	12	3		3	ZNF33B	10	43088769	Silent	SNP	A	TCGA-HW-8320-01A-11D-2395-08		43088769	92445978	22	11552											
RPS24	6229	broad.mit.edu	37	chr10	79793660	79793660	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaagatagatcgccatcAtggtgagtctccctgggccc	8	10	11	12	1	3	4	1	2	2	2	5	4	3	4	3	2	0	0	3	2	2	1			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr10:79793660A>C	uc001jzs.3	+	0	143	c.1A>C	c.(1-3)Atg>Ctg	p.M1L	RPS24_uc010qlo.2_Missense_Mutation_p.M1L|RPS24_uc001jzp.3_Missense_Mutation_p.M1L|RPS24_uc001jzq.3_Missense_Mutation_p.M1L	NM_001142285	NP_001135757	P62847	RS24_HUMAN	Homo sapiens ribosomal protein S24 (RPS24), transcript variant d, mRNA.	1					endocrine pancreas development|erythrocyte homeostasis|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	nucleotide binding|structural constituent of ribosome|translation initiation factor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(2)|skin(1)	5	all_cancers(46;0.0343)|all_epithelial(25;0.000959)|Breast(12;0.00113)|Prostate(51;0.0095)		Epithelial(14;0.00128)|OV - Ovarian serous cystadenocarcinoma(4;0.00248)|all cancers(16;0.00428)			GATCGCCATCATGGTGAGTCT	0.607													11	136					0	0	1	0	0	C	79793660	A	C	79793660	3	2	266	1	0	0	0	0	1	0	0	0	13635	217	8	5	3	5	RPS24	10	79793660	Missense_Mutation	SNP	A	TCGA-HW-8320-01A-11D-2395-08	36704891	79793660	55741087	23	11553											
MRPL43	84545	broad.mit.edu	37	chr10	102739072	102739072	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaagaaactgcggacagcaTaggggctggagcagaggtca	13	4	16	8	1	1	2	1	0	0	2	1	4	1	4	0	5	4	4	0	5	3	1			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr10:102739072T>C	uc010qpu.1	-	5	785	c.713A>G	c.(712-714)tAt>tGt	p.Y238C	SEMA4G_uc001krv.3_Intron|SEMA4G_uc010qpt.1_Intron|SEMA4G_uc001krx.3_Intron|SEMA4G_uc001krw.2_Intron|MRPL43_uc001kry.1_Missense_Mutation_p.M196V	NM_032112	NP_115488	Q8N983	RM43_HUMAN	Homo sapiens mitochondrial ribosomal protein L43 (MRPL43), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			endometrium(1)|skin(2)|upper_aerodigestive_tract(1)	4		Colorectal(252;0.234)		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		GCGGACAGCATAGGGGCTGGA	0.502													54	58					0	0	1	0	0	C	102739072	T	C	102739072	3	2	266	1	0	0	0	0	1	0	0	0	9807	1406	49	3	65	3	MRPL43	10	102739072	Missense_Mutation	SNP	T	TCGA-HW-8320-01A-11D-2395-08	22945412	102739072	32795675	24	11554											
PACSIN3	29763	broad.mit.edu	37	chr11	47202192	47202192	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcgctcagccgctcagcCgccgtgaaaaaggcatgcca	10	4	12	15	5	2	1	2	1	0	0	2	1	2	1	4	1	4	3	4	1	2	0			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr11:47202192C>T	uc001ndw.3	-	4	604	c.261G>A	c.(259-261)gcG>gcA	p.A87A	PACSIN3_uc001ndy.3_Silent_p.A87A|PACSIN3_uc001ndx.3_Silent_p.A87A	NM_001184975	NP_057307	Q9UKS6	PACN3_HUMAN	Homo sapiens protein kinase C and casein kinase substrate in neurons 3 (PACSIN3), transcript variant 1, mRNA.	87					endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						GCCGCTCAGCCGCCGTGAAAA	0.677													7	71					0	0	1	0	0	T	47202192	C	T	47202192	2	4	266	1	0	0	0	0	0	0	0	1	11376	639	23	2		2	PACSIN3	11	47202192	Silent	SNP	C	TCGA-HW-8320-01A-11D-2395-08		47202192	87804324	25	11555											
SLC22A6	9356	broad.mit.edu	37	chr11	62749448	62749448	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagccaatcaaggtgcccacGcaggcccgtgtgtgaatggg	9	7	14	11	2	1	1	1	1	0	0	1	1	1	1	3	3	2	1	3	3	4	1			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr11:62749448G>A	uc001nwk.3	-	3	996	c.663C>T	c.(661-663)tgC>tgT	p.C221C	SLC22A6_uc001nwl.3_Silent_p.C221C|SLC22A6_uc001nwj.3_Silent_p.C221C|SLC22A6_uc001nwm.3_Silent_p.C221C	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	221					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGGTGCCCACGCAGGCCCGTG	0.607													5	45					0	0	1	0	0	A	62749448	G	A	62749448	2	1	266	1	0	0	0	0	0	0	0	1	14458	1079	38	1		1	SLC22A6	11	62749448	Silent	SNP	G	TCGA-HW-8320-01A-11D-2395-08	15547256	62749448	72257068	26	11556											
ZFPL1	7542	broad.mit.edu	37	chr11	64855533	64855533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgggccgcagctgacagcGatcccaacctggacccactc	8	4	11	18	3	0	1	0	1	0	0	2	3	1	2	5	2	3	2	5	2	1	0			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr11:64855533G>A	uc001ocq.1	+	7	1045	c.880G>A	c.(880-882)Gat>Aat	p.D294N		NM_006782	NP_006773	O95159	ZFPL1_HUMAN	Homo sapiens zinc finger protein-like 1 (ZFPL1), mRNA.	294					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						AGCTGACAGCGATCCCAACCT	0.662													20	161					0	0	1	0	0	A	64855533	G	A	64855533	3	1	266	1	0	0	0	0	1	0	0	0	17653	1058	37	2	906	2	ZFPL1	11	64855533	Missense_Mutation	SNP	G	TCGA-HW-8320-01A-11D-2395-08	2106085	64855533	70150983	27	11557											
DDX51	317781	broad.mit.edu	37	chr12	132625414	132625414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatacttccccgaatcccCgtccccatctgtatcttcca	7	11	5	18	2	2	0	0	0	2	0	6	1	6	0	7	1	1	2	7	1	3	4			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr12:132625414C>T	uc001ujy.4	-	8	1441	c.1402G>A	c.(1402-1404)Ggg>Agg	p.G468R		NM_175066	NP_778236	Q8N8A6	DDX51_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 (DDX51), mRNA.	468					rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		CCCGAATCCCCGTCCCCATCT	0.617													8	124					0	0	1	0	0	T	132625414	C	T	132625414	3	4	266	1	0	0	0	0	1	0	0	0	4369	652	23	2	626	2	DDX51	12	132625414	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08		132625414	1226481	28	11558											
CPSF2	53981	broad.mit.edu	37	chr14	92625466	92625466	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttagaagaaggagaactaaAggatgatggagaagactcag	18	7	13	3	0	1	6	1	1	0	5	1	9	1	7	0	3	1	0	0	3	7	3			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr14:92625466A>G	uc001yah.2	+	13	2229	c.1961A>G	c.(1960-1962)aAg>aGg	p.K654R		NM_017437	NP_059133	Q9P2I0	CPSF2_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 2, 100kDa (CPSF2), mRNA.	654				K -> R (in Ref. 3; AAH70095).	histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|hydrolase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		GGAGAACTAAAGGATGATGGA	0.413													4	85					0	0	1	0	0	G	92625466	A	G	92625466	3	3	266	1	0	0	0	0	1	0	0	0	3825	72	3	4	2007	4	CPSF2	14	92625466	Missense_Mutation	SNP	A	TCGA-HW-8320-01A-11D-2395-08		92625466	14724074	29	11559											
ITGAE	3682	broad.mit.edu	37	chr17	3664729	3664729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttggcctgagcctggggaCggaggtcagggcccaggagg	7	5	20	9	1	1	1	1	1	0	0	1	4	1	4	3	8	1	1	3	8	0	1			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:3664729C>T	uc002fwo.4	-	4	500	c.401G>A	c.(400-402)cGt>cAt	p.R134H		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	134					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AGCCTGGGGACGGAGGTCAGG	0.557													8	98					0	0	1	0	0	T	3664729	C	T	3664729	3	4	266	1	0	0	0	0	1	0	0	0	7885	536	19	1	3246	1	ITGAE	17	3664729	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08		3664729	77530481	30	11560											
TP53	7157	broad.mit.edu	37	chr17	7577576	7577582	+	Frame_Shift_Del	DEL	GTTGTAG	GTTGTAG	-																															caggaactgttacacatgtaGttgtagtggatggtggtaca																								rs144340710		TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:7577576_7577582delGTTGTAG	uc002gim.2	-	6	893_899	c.699_705delCTACAAC	c.(697-705)cactacaacfs	p.H233fs	TP53_uc002gig.1_Frame_Shift_Del_p.H233fs|TP53_uc002gih.3_Frame_Shift_Del_p.H233fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.H101fs|TP53_uc010cnf.1_Frame_Shift_Del_p.H101fs|TP53_uc002gii.1_Frame_Shift_Del_p.H101fs|TP53_uc010cni.1_Frame_Shift_Del_p.H233fs|TP53_uc010cnh.1_Frame_Shift_Del_p.H233fs|TP53_uc002gij.2_Frame_Shift_Del_p.H233fs|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Frame_Shift_Del_p.H140fs|TP53_uc002gio.2_Frame_Shift_Del_p.H101fs|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	233	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.Y234C(172)|p.Y234H(38)|p.N235S(28)|p.Y234N(26)|p.Y234S(15)|p.N235D(14)|p.Y234D(11)|p.I232F(8)|p.Y141C(8)|p.N235I(8)|p.Y234*(8)|p.0?(8)|p.Y234del(6)|p.N235T(6)|p.I232N(6)|p.I232T(6)|p.?(5)|p.H233fs*6(5)|p.I232V(5)|p.N235fs*5(4)|p.H233Y(4)|p.N235Y(4)|p.H233Q(4)|p.N235fs*12(4)|p.C229_H233delCTTIH(4)|p.N235del(4)|p.N235fs*6(2)|p.H233L(2)|p.H233D(2)|p.Y234fs*2(2)|p.Y234fs*5(2)|p.Y234fs*4(2)|p.T230_Y234delTTIHY(2)|p.Y141S(2)|p.Y234Y(2)|p.Y234F(2)|p.I232fs*5(2)|p.I232_Y236delIHYNY(2)|p.N235>XX(2)|p.N235M(2)|p.Y234R(2)|p.N235H(2)|p.H233_C242del10(2)|p.N235_Y236delNY(2)|p.Y234_N235insX(2)|p.H233del(2)|p.I232S(2)|p.Y234fs*6(2)|p.I232fs*15(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233R(1)|p.Y141N(1)|p.I232L(1)|p.H233fs*14(1)|p.H233P(1)|p.D228fs*12(1)|p.C229_I232del(1)|p.Y141H(1)|p.Y141D(1)|p.S227_I232delSDCTTI(1)|p.H233fs*7(1)|p.I232_H233insG(1)|p.I232fs*8(1)|p.Y236fs*5(1)|p.I232I(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)		TACACATGTAGTTGTAGTGGATGGTGG	0.57		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)			51	10	---	---	---	---						-	7577582	GTTGTAG	-	7577576	7	5	266	1	0	1	0	1	0	0	0	0	16378	1020	36	0	585	0	TP53	17	7577576	Frame_Shift_Del	DEL	GTTGTAG	TCGA-HW-8320-01A-11D-2395-08	3912847	7577576	73617634	31	11561											
RNF112	7732	broad.mit.edu	37	chr17	19316087	19316087	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagcggccgctgcccccTgcactgcaggtctggggact	4	6	14	17	3	1	0	0	0	1	0	1	1	1	1	4	4	4	4	4	4	0	0	rs68012060		TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:19316087T>A	uc010vyw.2	+	2	603	c.372T>A	c.(370-372)ccT>ccA	p.P124P	RNF112_uc010vyu.2_Silent_p.P124P|RNF112_uc021tsa.1_Non-coding_Transcript|RNF112_uc010vyx.1_Silent_p.P76P	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	Homo sapiens ring finger protein 112 (RNF112), mRNA.	124							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CGCTGCCCCCTGCACTGCAGG	0.627													4	42					0	0	1	0	0	A	19316087	T	A	19316087	2	1	266	1	0	0	0	0	0	0	0	1	13426	1567	55	5		5	RNF112	17	19316087	Silent	SNP	T	TCGA-HW-8320-01A-11D-2395-08	11738511	19316087	61879123	32	11562											
CNTD1	124817	broad.mit.edu	37	chr17	40956252	40956252	+	Silent	SNP	A	A	T																															cttccctacaggtttatggtAaaacaggcagagaacatctg																										TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:40956252A>T	uc002ibm.4	+	2	487	c.255A>T	c.(253-255)gtA>gtT	p.V85V	CNTD1_uc010wha.2_Silent_p.V2V	NM_173478	NP_775749	Q8N815	CNTD1_HUMAN	Homo sapiens cyclin N-terminal domain containing 1 (CNTD1), mRNA.	85	Cyclin N-terminal.							p.V85I(1)		central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GGTTTATGGTAAAACAGGCAG	0.438													29	35					0	0	1	0	0	T	40956252	A	T	40956252	2	4	266	1	0	0	0	0	0	0	0	1	3635	349	13	5		5	CNTD1	17	40956252	Silent	SNP	A	TCGA-HW-8320-01A-11D-2395-08	21640165	40956252	40238958	33	11563	40	2									
CNTD1	124817	broad.mit.edu	37	chr17	40956254	40956254	+	Missense_Mutation	SNP	A	A	T																															tccctacaggtttatggtaaAacaggcagagaacatctgca																										TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:40956254A>T	uc002ibm.4	+	2	489	c.257A>T	c.(256-258)aAa>aTa	p.K86I	CNTD1_uc010wha.2_Missense_Mutation_p.K3I	NM_173478	NP_775749	Q8N815	CNTD1_HUMAN	Homo sapiens cyclin N-terminal domain containing 1 (CNTD1), mRNA.	86	Cyclin N-terminal.							p.V85I(1)		central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTTATGGTAAAACAGGCAGAG	0.438													27	36					0	0	1	0	0	T	40956254	A	T	40956254	3	4	266	1	0	0	0	0	1	0	0	0	3635	14	1	5	267	5	CNTD1	17	40956254	Missense_Mutation	SNP	A	TCGA-HW-8320-01A-11D-2395-08	2	40956254	40238956	34	11564	40	2									
CARD14	79092	broad.mit.edu	37	chr17	78169012	78169012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagctcttgtcggacctgaGtgccacgtccagccgcgagc	6	8	12	15	4	2	1	1	1	1	0	4	3	3	2	4	1	4	1	4	1	0	1			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:78169012G>A	uc002jxw.1	+	9	1573	c.1379G>A	c.(1378-1380)aGt>aAt	p.S460N	CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.3_Missense_Mutation_p.S460N|CARD14_uc010wud.1_Non-coding_Transcript|CARD14_uc002jxx.3_Missense_Mutation_p.S223N|CARD14_uc010dhu.1_Missense_Mutation_p.S258N	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA.	460					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TCGGACCTGAGTGCCACGTCC	0.677													14	58					0	0	1	0	0	A	78169012	G	A	78169012	3	1	266	1	0	0	0	0	1	0	0	0	2646	1029	36	3	1413	3	CARD14	17	78169012	Missense_Mutation	SNP	G	TCGA-HW-8320-01A-11D-2395-08	37212758	78169012	3026198	35	11565											
HGS	9146	broad.mit.edu	37	chr17	79653396	79653396	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaacgacaagaacccacaCgtcgccttgtatgccctgga	11	7	9	14	3	1	1	1	0	0	1	2	3	1	2	3	1	3	1	3	1	4	2			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:79653396C>T	uc002kbg.3	+	2	312	c.177C>T	c.(175-177)caC>caT	p.H59H	ARL16_uc002kbf.3_5'Flank|ARL16_uc021ufd.1_5'Flank|HGS_uc010wus.2_Silent_p.H59H	NM_004712	NP_004703	O14964	HGS_HUMAN	Homo sapiens hepatocyte growth factor-regulated tyrosine kinase substrate (HGS), mRNA.	59	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of JAK-STAT cascade|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			AGAACCCACACGTCGCCTTGT	0.483													3	47					0	0	1	0	0	T	79653396	C	T	79653396	2	4	266	1	0	0	0	0	0	0	0	1	7087	535	19	1		1	HGS	17	79653396	Silent	SNP	C	TCGA-HW-8320-01A-11D-2395-08	1484384	79653396	1541814	36	11566											
PAK4	10298	broad.mit.edu	37	chr19	39664275	39664275	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggcctggccatcccccaGtcctcctcctcctcctcccg	2	8	9	22	1	0	0	0	0	0	0	7	0	7	0	10	3	0	0	10	3	0	0			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr19:39664275G>C	uc002okj.1	+	5	1184	c.723G>C	c.(721-723)caG>caC	p.Q241H	PAK4_uc002okl.1_Missense_Mutation_p.Q241H|PAK4_uc002okn.1_Missense_Mutation_p.Q241H|PAK4_uc002okm.1_Missense_Mutation_p.Q88H|PAK4_uc002oko.1_Missense_Mutation_p.Q88H|PAK4_uc002okp.1_Missense_Mutation_p.Q151H	NM_001014831	NP_005875	O96013	PAK4_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 4 (PAK4), transcript variant 2, mRNA.	241	Linker.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CCATCCCCCAGTCCTCCTCCT	0.701													3	29					0	0	1	0	0	C	39664275	G	C	39664275	3	2	266	1	0	0	0	0	1	0	0	0	11403	1020	36	5	733	5	PAK4	19	39664275	Missense_Mutation	SNP	G	TCGA-HW-8320-01A-11D-2395-08		39664275	19464708	37	11567											
CTNNBL1	56259	broad.mit.edu	37	chr20	36431347	36431347	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccgaaggcacagacaactgCcataagtttgttgacattct	12	10	8	11	1	1	2	0	1	1	1	1	3	1	2	2	1	2	3	2	1	3	4			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr20:36431347C>A	uc021wdj.1	+	10	1201	c.1110C>A	c.(1108-1110)tgC>tgA	p.C370*	CTNNBL1_uc002xhh.3_Nonsense_Mutation_p.C183*|CTNNBL1_uc002xhi.3_Non-coding_Transcript|CTNNBL1_uc002xhj.3_Nonsense_Mutation_p.C118*	NM_030877	NP_110517	Q8WYA6	CTBL1_HUMAN	Homo sapiens catenin, beta like 1 (CTNNBL1), mRNA.	370					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CAGACAACTGCCATAAGTTTG	0.478													5	82					1.23904e-05	1.23904e-05	1	1	0	A	36431347	C	A	36431347	4	1	266	1	0	0	0	0	0	1	0	0	4018	747	26	5	1152	5	CTNNBL1	20	36431347	Nonsense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08		36431347	26594173	38	11568											
DOCK11	139818	broad.mit.edu	37	chrX	117695460	117695460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggttgcatctacttggacGcctgcattgatgttgttcag	8	14	11	8	1	2	1	1	1	1	0	2	2	2	2	1	2	3	5	1	2	2	6			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chrX:117695460G>A	uc004eqp.2	+	6	736	c.673G>A	c.(673-675)Gcc>Acc	p.A225T	DOCK11_uc004eqq.2_5'UTR	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	225	PH.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CTACTTGGACGCCTGCATTGA	0.378													16	32					0	0	1	0	0	A	117695460	G	A	117695460	3	1	266	1	0	0	0	0	1	0	0	0	4686	1087	38	1	699	1	DOCK11	23	117695460	Missense_Mutation	SNP	G	TCGA-HW-8320-01A-11D-2395-08		117695460	37575100	39	11569											
ASPM	259266	broad.mit.edu	37	chr1	197111767	197111768	+	Frame_Shift_Ins	INS	-	-	T																															agataagaatgaaaatcttcINStttttccttttgattattta																										TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr1:197111767_197111768insT	uc001gtu.3	-	2	1871_1872	c.1614_1615insA	c.(1612-1617)aaagaafs	p.K538fs	ASPM_uc001gtv.3_Frame_Shift_Ins_p.K538fs|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	538					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGAAAATCTTCTTTTTCCTTTT	0.322													19	125	---	---	---	---						T	197111768	-	T	197111767	7	5	267	1	0	1	1	0	0	0	0	0	1056	922	32	0	8922	0	ASPM	1	197111767	Frame_Shift_Ins	INS	-	TCGA-HW-8321-01A-11D-2395-08		197111767	52138854	1	11570											
DNMT3A	1788	broad.mit.edu	37	chr2	25457209	25457209	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggatgactggcacgctcCatgaccggcccagcagtctc	7	6	13	15	3	1	2	0	2	1	0	3	3	2	3	3	4	1	3	3	4	0	0			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:25457209C>T	uc002rgc.3	-	22	2935	c.2678G>A	c.(2677-2679)tGg>tAg	p.W893*	DNMT3A_uc002rgd.3_Nonsense_Mutation_p.W893*|DNMT3A_uc010eyi.3_Non-coding_Transcript|DNMT3A_uc002rgb.3_Nonsense_Mutation_p.W704*	NM_022552	NP_783328	Q9Y6K1	DNM3A_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 alpha (DNMT3A), transcript variant 3, mRNA.	893					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.W893S(3)|p.W893R(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGCACGCTCCATGACCGGCC	0.557			"Mis, F, N, S"		AML								22	48					0	0	1	0	0	T	25457209	C	T	25457209	4	4	267	1	0	0	0	0	0	1	0	0	4676	595	21	3	64	3	DNMT3A	2	25457209	Nonsense_Mutation	SNP	C	TCGA-HW-8321-01A-11D-2395-08		25457209	217742164	2	11571											
KIAA1841	84542	broad.mit.edu	37	chr2	61310289	61310289	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tattttctatgattttttagGttgaacagtgtattcagtat	10	21	7	3	0	2	2	1	2	1	0	2	2	2	2	0	1	1	3	0	1	6	11			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:61310289G>C	uc002saw.4	+	8	1033	c.730_splice	c.e8-1	p.V244_splice	KIAA1841_uc002sax.4_Splice_Site_p.V98_splice|KIAA1841_uc002say.3_Splice_Site_p.V244_splice|KIAA1841_uc002sav.4_Splice_Site_p.V244_splice	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	Homo sapiens KIAA1841 (KIAA1841), transcript variant 1, mRNA.	244										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GATTTTTTAGGTTGAACAGTG	0.318													15	41					0	0	1	0	0	C	61310289	G	C	61310289	5	2	267	1	0	0	0	0	0	0	1	0	8261	1275	44	5	752	5	KIAA1841	2	61310289	Splice_Site	SNP	G	TCGA-HW-8321-01A-11D-2395-08	35853080	61310289	181889084	3	11572											
IL1RL2	8808	broad.mit.edu	37	chr2	102835531	102835531	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaatccaaacgaatcagAgaaggggtggagtaggtgtt	14	8	15	4	1	1	2	1	1	0	1	2	6	2	3	1	4	1	2	1	4	5	2			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:102835531A>G	uc002tbs.3	+	6	969	c.843A>G	c.(841-843)agA>agG	p.R281R	IL1RL2_uc002tbt.3_Silent_p.R163R	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	281	Ig-like C2-type 3.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						AACGAATCAGAGAAGGGGTGG	0.403													43	91					0	0	1	0	0	G	102835531	A	G	102835531	2	3	267	1	0	0	0	0	0	0	0	1	7664	301	11	4		4	IL1RL2	2	102835531	Silent	SNP	A	TCGA-HW-8321-01A-11D-2395-08	41525242	102835531	140363842	4	11573											
ST6GAL2	84620	broad.mit.edu	37	chr2	107446647	107446647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgatttgggtttctctgaCgatgctgaatatatggagtg	8	15	13	5	1	1	3	0	3	1	0	2	5	1	4	0	2	1	3	0	2	3	4	rs144935783		TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:107446647C>T	uc002tdq.3	-	4	1312	c.1193G>A	c.(1192-1194)cGt>cAt	p.R398H	ST6GAL2_uc002tdr.3_Missense_Mutation_p.R398H|ST6GAL2_uc002tds.3_Missense_Mutation_p.R398H	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	398					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.R398H(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GTTTCTCTGACGATGCTGAAT	0.353													13	150					0	0	1	0	0	T	107446647	C	T	107446647	3	4	267	1	0	0	0	0	1	0	0	0	15221	536	19	1	491	1	ST6GAL2	2	107446647	Missense_Mutation	SNP	C	TCGA-HW-8321-01A-11D-2395-08	4611116	107446647	135752726	5	11574											
ZNF804A	91752	broad.mit.edu	37	chr2	185801555	185801555	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ataatctagataaaaataagCcagacttaaaagatctttgt	19	12	5	5	0	2	3	0	0	2	3	2	3	2	3	1	0	1	0	1	0	8	6			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:185801555C>G	uc002uph.3	+	3	2026	c.1432C>G	c.(1432-1434)Cca>Gca	p.P478A		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	478						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TAAAAATAAGCCAGACTTAAA	0.343													18	130					0	0	1	0	0	G	185801555	C	G	185801555	3	3	267	1	0	0	0	0	1	0	0	0	18167	739	26	5	1446	5	ZNF804A	2	185801555	Missense_Mutation	SNP	C	TCGA-HW-8321-01A-11D-2395-08	78354908	185801555	57397818	6	11575											
FZD5	7855	broad.mit.edu	37	chr2	208632020	208632020	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgggcaggcgcaggtgaGcgccgcctcccagctctcgc	4	4	15	18	5	1	1	0	1	1	0	3	1	2	1	4	3	2	3	4	3	0	0			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:208632020G>T	uc021vvr.1	-	0	1444	c.1444C>A	c.(1444-1446)Ctc>Atc	p.L482I	FZD5_uc002vcj.3_Missense_Mutation_p.L482I	NM_003468	NP_003459	Q13467	FZD5_HUMAN	Homo sapiens frizzled family receptor 5 (FZD5), mRNA.	482					Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification|angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development	Golgi membrane|cell projection|cell surface|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding|protein kinase binding			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		GCGCAGGTGAGCGCCGCCTCC	0.667													7	30					8.12818e-05	8.31292e-05	1	1	0	T	208632020	G	T	208632020	3	4	267	1	0	0	0	0	1	0	0	0	6133	971	34	5	317	5	FZD5	2	208632020	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08	22830465	208632020	34567353	7	11576											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								29	65					0	0	1	0	0	T	209113112	C	T	209113112	3	4	267	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-8321-01A-11D-2395-08	481092	209113112	34086261	8	11577											
TMEM40	55287	broad.mit.edu	37	chr3	12779642	12779642	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgtatttaccacttgcTgggtcagagcctctccttcg	5	15	9	12	1	2	1	1	0	1	1	4	1	2	1	3	1	3	2	3	1	2	6			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr3:12779642T>G	uc011auv.1	-	6	632	c.465A>C	c.(463-465)ccA>ccC	p.P155P	TMEM40_uc003bxg.1_Silent_p.P139P|TMEM40_uc003bxh.1_Silent_p.P109P	NM_018306	NP_060776	Q8WWA1	TMM40_HUMAN	Homo sapiens transmembrane protein 40 (TMEM40), mRNA.	139						integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TACCACTTGCTGGGTCAGAGC	0.557													10	26					0	0	1	0	0	G	12779642	T	G	12779642	2	3	267	1	0	0	0	0	0	0	0	1	16160	1567	55	5		5	TMEM40	3	12779642	Silent	SNP	T	TCGA-HW-8321-01A-11D-2395-08		12779642	185242788	9	11578											
CMTM7	112616	broad.mit.edu	37	chr3	32483476	32483476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcttccgcttctaccgcGtgctcacctgtatcagctgg	5	12	8	16	3	4	0	2	0	2	0	5	0	5	0	4	1	3	4	4	1	2	4			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr3:32483476G>A	uc003cey.1	+	1	540	c.304G>A	c.(304-306)Gtg>Atg	p.V102M	CMTM7_uc003cez.1_Missense_Mutation_p.V102M	NM_138410	NP_612419	Q96FZ5	CKLF7_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 7 (CMTM7), transcript variant 1, mRNA.	102	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(2)	4						CTTCTACCGCGTGCTCACCTG	0.537													10	116					0	0	1	0	0	A	32483476	G	A	32483476	3	1	267	1	0	0	0	0	1	0	0	0	3588	1145	40	1	310	1	CMTM7	3	32483476	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08	19703834	32483476	165538954	10	11579											
DAG1	1605	broad.mit.edu	37	chr3	49569023	49569023	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggctcctccagtcagggAtcctgttcctgggaaaccca	8	9	10	14	0	1	0	1	0	0	0	5	2	5	2	5	3	1	2	5	3	1	1			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr3:49569023A>G	uc021wxz.1	+	2	1548	c.1079A>G	c.(1078-1080)gAt>gGt	p.D360G	DAG1_uc021wya.1_Missense_Mutation_p.D360G|DAG1_uc021wyb.1_Missense_Mutation_p.D360G|DAG1_uc021wyc.1_Missense_Mutation_p.D360G|DAG1_uc021wyd.1_Missense_Mutation_p.D360G|DAG1_uc021wye.1_Missense_Mutation_p.D360G|DAG1_uc021wyf.1_Missense_Mutation_p.D360G|DAG1_uc021wyg.1_Missense_Mutation_p.D360G|DAG1_uc021wyh.1_Missense_Mutation_p.D360G|DAG1_uc021wyi.1_Missense_Mutation_p.D360G|DAG1_uc021wyj.1_Missense_Mutation_p.D360G|DAG1_uc021wyk.1_Missense_Mutation_p.D360G|DAG1_uc003cxc.4_Missense_Mutation_p.D360G	NM_001177643	NP_001171114	Q14118	DAG1_HUMAN	Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1) (DAG1), transcript variant 12, mRNA.	360	Mucin-like domain.|Required for laminin recognition.|Thr-rich.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CCAGTCAGGGATCCTGTTCCT	0.602													35	191					0	0	1	0	0	G	49569023	A	G	49569023	3	3	267	1	0	0	0	0	1	0	0	0	4225	333	12	3	1085	3	DAG1	3	49569023	Missense_Mutation	SNP	A	TCGA-HW-8321-01A-11D-2395-08	17085547	49569023	148453407	11	11580											
AP2M1	1173	broad.mit.edu	37	chr3	183898930	183898930	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatgaagagctacctgagtgGcatgcctgaatgcaagtttg	11	10	13	7	0	0	4	0	3	0	1	0	5	0	4	2	1	4	4	2	1	4	2			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr3:183898930G>C	uc021xig.1	+	5	666	c.623G>C	c.(622-624)gGc>gCc	p.G208A	AP2M1_uc003fmw.3_Missense_Mutation_p.G206A|AP2M1_uc021xif.1_Missense_Mutation_p.G24A|AP2M1_uc011bqy.2_Missense_Mutation_p.G78A|AP2M1_uc011bqz.2_Missense_Mutation_p.G24A	NM_004068	NP_004059	Q96CW1	AP2M1_HUMAN	Homo sapiens adaptor-related protein complex 2, mu 1 subunit (AP2M1), transcript variant 1, mRNA.	208	MHD.				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TACCTGAGTGGCATGCCTGAA	0.537													35	199					0	0	1	0	0	C	183898930	G	C	183898930	3	2	267	1	0	0	0	0	1	0	0	0	742	1203	42	5	642	5	AP2M1	3	183898930	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08	134329907	183898930	14123500	12	11581											
FGFR4	2264	broad.mit.edu	37	chr5	176517585	176517585	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcttcctacctgaggatGctggccgctacctctgcctg	5	10	10	16	1	1	1	0	1	1	0	2	2	2	2	6	2	5	3	6	2	2	3			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr5:176517585G>T	uc003mfl.3	+	2	453	c.286G>T	c.(286-288)Gct>Tct	p.A96S	FGFR4_uc003mfm.3_Missense_Mutation_p.A96S|FGFR4_uc011dfu.2_Missense_Mutation_p.A96S|FGFR4_uc011dfv.1_Non-coding_Transcript|FGFR4_uc003mfn.1_Missense_Mutation_p.A96S|FGFR4_uc011dfw.1_Missense_Mutation_p.A96S|FGFR4_uc003mfo.3_Missense_Mutation_p.A96S	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	96	Ig-like C2-type 1.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	ACCTGAGGATGCTGGCCGCTA	0.607										TSP Lung(9;0.080)			22	86					3.62473e-10	3.79332e-10	1	1	0	T	176517585	G	T	176517585	3	4	267	1	0	0	0	0	1	0	0	0	5868	1319	46	5	292	5	FGFR4	5	176517585	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08		176517585	4397675	13	11582											
TRIM15	89870	broad.mit.edu	37	chr6	30134981	30134981	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagtcgactggaagctcTgagcacggagagagatgaga	13	5	16	7	2	1	4	0	2	1	3	2	10	1	6	0	3	2	2	0	3	1	0			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr6:30134981T>C	uc010jrx.3	+	1	889	c.410T>C	c.(409-411)cTg>cCg	p.L137P		NM_033229	NP_150232	Q9C019	TRI15_HUMAN	Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.	137					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CTGGAAGCTCTGAGCACGGAG	0.453													15	69					0	0	1	0	0	C	30134981	T	C	30134981	3	2	267	1	0	0	0	0	1	0	0	0	16487	1580	55	4	416	4	TRIM15	6	30134981	Missense_Mutation	SNP	T	TCGA-HW-8321-01A-11D-2395-08		30134981	140980086	14	11583											
TNXB	7148	broad.mit.edu	37	chr6	32018082	32018082	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcactgcttgggtggtctcGgcttcatcctttggagctgg	3	13	15	10	1	2	0	1	0	1	0	4	1	3	1	1	6	2	4	1	6	0	3			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr6:32018082G>A	uc003nzl.2	-	26	9328	c.9126C>T	c.(9124-9126)gcC>gcT	p.A3042A		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3089	Fibronectin type-III 22.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGTGGTCTCGGCTTCATCCT	0.597													37	63					0	0	1	0	0	A	32018082	G	A	32018082	2	1	267	1	0	0	0	0	0	0	0	1	16343	1103	39	2		2	TNXB	6	32018082	Silent	SNP	G	TCGA-HW-8321-01A-11D-2395-08	1883101	32018082	139096985	15	11584											
GPR63	81491	broad.mit.edu	37	chr6	97246405	97246405	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactaggacgtatccgtcgCtttgtgtgaccagggagctg	7	10	14	10	3	0	1	0	1	0	0	2	3	1	3	2	2	1	4	2	2	2	3			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr6:97246405C>T	uc010kcl.3	-	2	1681	c.1203G>A	c.(1201-1203)aaG>aaA	p.K401K	GPR63_uc003pou.3_Silent_p.K401K|GPR63_uc021zcy.1_Silent_p.K401K	NM_001143957	NP_001137429	Q9BZJ6	GPR63_HUMAN	Homo sapiens G protein-coupled receptor 63 (GPR63), transcript variant 1, mRNA.	401						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GTATCCGTCGCTTTGTGTGAC	0.478													35	64					0	0	1	0	0	T	97246405	C	T	97246405	2	4	267	1	0	0	0	0	0	0	0	1	6704	796	28	3		3	GPR63	6	97246405	Silent	SNP	C	TCGA-HW-8321-01A-11D-2395-08	65228323	97246405	73868662	16	11585											
ZNF804B	219578	broad.mit.edu	37	chr7	88964578	88964578	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acggaaatgtctaaagcacaActgcttctacttgtctgatg	12	12	8	9	1	3	1	0	1	3	0	3	2	3	2	0	1	4	2	0	1	5	4			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr7:88964578A>C	uc011khi.2	+	3	2820	c.2282A>C	c.(2281-2283)aAc>aCc	p.N761T		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	761						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTAAAGCACAACTGCTTCTAC	0.383										HNSCC(36;0.09)			24	43					0	0	1	0	0	C	88964578	A	C	88964578	3	2	267	1	0	0	0	0	1	0	0	0	18168	43	2	5	2296	5	ZNF804B	7	88964578	Missense_Mutation	SNP	A	TCGA-HW-8321-01A-11D-2395-08		88964578	70174085	17	11586											
BAIAP2L1	55971	broad.mit.edu	37	chr7	97941545	97941545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caacacaggtctcctgccacCgaggcagcttggaattcagt	10	8	10	13	1	2	0	1	0	1	0	3	2	2	1	3	3	3	2	3	3	2	2			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr7:97941545C>T	uc003upj.3	-	7	934	c.671G>A	c.(670-672)cGg>cAg	p.R224Q		NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	Homo sapiens BAI1-associated protein 2-like 1 (BAIAP2L1), mRNA.	224	IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	SH3 domain binding|actin binding|cytoskeletal adaptor activity|proline-rich region binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CTCCTGCCACCGAGGCAGCTT	0.448													17	215					0	0	1	0	0	T	97941545	C	T	97941545	3	4	267	1	0	0	0	0	1	0	0	0	1302	652	23	2	892	2	BAIAP2L1	7	97941545	Missense_Mutation	SNP	C	TCGA-HW-8321-01A-11D-2395-08	8976967	97941545	61197118	18	11587											
MYO3A	53904	broad.mit.edu	37	chr10	26285470	26285470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaaaggatttctgaagaggGgtgaaagaatgagtgagcct	14	9	15	3	0	1	7	0	5	1	2	1	8	1	8	1	3	1	0	1	3	4	1			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr10:26285470G>A	uc001isn.2	+	4	715	c.355G>A	c.(355-357)Ggt>Agt	p.G119S	MYO3A_uc009xko.1_Missense_Mutation_p.G119S|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.G119S|MYO3A_uc001ism.2_Missense_Mutation_p.G119S	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	119	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TCTGAAGAGGGGTGAAAGAAT	0.353													11	85					0	0	1	0	0	A	26285470	G	A	26285470	3	1	267	1	0	0	0	0	1	0	0	0	10076	1232	43	3	365	3	MYO3A	10	26285470	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08		26285470	109249277	19	11588											
CABP4	57010	broad.mit.edu	37	chr11	67222946	67222946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaaatctggccattggcCgtcagaagccccctgcgggg	7	6	13	15	2	2	1	1	0	1	1	2	1	2	1	5	4	2	0	5	4	2	1			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr11:67222946C>T	uc001olo.3	+	0	129	c.52C>T	c.(52-54)Cgt>Tgt	p.R18C	GPR152_uc001olm.3_5'Flank|CABP4_uc001oln.3_Intron	NM_145200	NP_660201	P57796	CABP4_HUMAN	Homo sapiens calcium binding protein 4 (CABP4), mRNA.	18					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GGCCATTGGCCGTCAGAAGCC	0.642													20	15					0	0	1	0	0	T	67222946	C	T	67222946	3	4	267	1	0	0	0	0	1	0	0	0	2533	652	23	2	54	2	CABP4	11	67222946	Missense_Mutation	SNP	C	TCGA-HW-8321-01A-11D-2395-08		67222946	67783570	20	11589											
DPPA3	359787	broad.mit.edu	37	chr12	7867804	7867804	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcaaatctcctccgagacGttgataaagaaccttagtaa	14	11	6	10	2	2	3	1	1	2	2	5	4	3	3	3	0	1	2	3	0	6	4			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr12:7867804G>A	uc001qtf.3	+	1	186	c.108G>A	c.(106-108)acG>acA	p.T36T		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	36						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		CCTCCGAGACGTTGATAAAGA	0.453													59	106					0	0	1	0	0	A	7867804	G	A	7867804	2	1	267	1	0	0	0	0	0	0	0	1	4735	1132	40	1		1	DPPA3	12	7867804	Silent	SNP	G	TCGA-HW-8321-01A-11D-2395-08		7867804	125984091	21	11590											
FMNL3	91010	broad.mit.edu	37	chr12	50044648	50044648	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaataattcttcaaacttaTcaagatccaggtcctggcag	13	12	7	9	0	3	2	2	1	1	1	5	2	5	2	2	2	1	1	2	2	5	4			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr12:50044648T>A	uc001ruv.1	-	16	2045	c.1811A>T	c.(1810-1812)gAt>gTt	p.D604V	FMNL3_uc001ruw.1_Missense_Mutation_p.D553V|FMNL3_uc001rut.1_Missense_Mutation_p.D170V|FMNL3_uc001ruu.1_Missense_Mutation_p.D454V	NM_175736	NP_783863	Q8IVF7	FMNL3_HUMAN	Homo sapiens formin-like 3 (FMNL3), transcript variant 1, mRNA.	604	FH2.				actin cytoskeleton organization		Rho GTPase binding|actin binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TTCAAACTTATCAAGATCCAG	0.512													14	56					0	0	1	0	0	A	50044648	T	A	50044648	3	1	267	1	0	0	0	0	1	0	0	0	5953	1435	50	5	1312	5	FMNL3	12	50044648	Missense_Mutation	SNP	T	TCGA-HW-8321-01A-11D-2395-08	42176844	50044648	83807247	22	11591											
SOAT2	8435	broad.mit.edu	37	chr12	53517583	53517583	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctgatgtggaccatgctgTttctaggccagggaatccag	8	11	13	9	0	1	1	0	1	1	0	2	3	2	3	3	3	2	3	3	3	2	2			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr12:53517583T>A	uc001sbv.3	+	13	1532	c.1444T>A	c.(1444-1446)Ttt>Att	p.F482I	SOAT2_uc009zms.3_Non-coding_Transcript	NM_003578	NP_003569	O75908	SOAT2_HUMAN	Homo sapiens sterol O-acyltransferase 2 (SOAT2), mRNA.	482					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol O-acyltransferase activity|cholesterol binding|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						GACCATGCTGTTTCTAGGCCA	0.577													23	55					0	0	1	0	0	A	53517583	T	A	53517583	3	1	267	1	0	0	0	0	1	0	0	0	14911	1725	60	5	1498	5	SOAT2	12	53517583	Missense_Mutation	SNP	T	TCGA-HW-8321-01A-11D-2395-08	3472935	53517583	80334312	23	11592											
TRHDE	29953	broad.mit.edu	37	chr12	73012760	73012760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccttggcatgctgccagccGagctctttatcctctagata	7	13	8	13	1	2	1	0	0	2	1	4	2	4	1	4	1	4	3	4	1	3	5			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr12:73012760G>A	uc001sxa.3	+	12	2306	c.2276G>A	c.(2275-2277)cGa>cAa	p.R759Q		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	759					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GCTGCCAGCCGAGCTCTTTAT	0.368													22	61					0	0	1	0	0	A	73012760	G	A	73012760	3	1	267	1	0	0	0	0	1	0	0	0	16476	1058	37	2	2326	2	TRHDE	12	73012760	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08	19495177	73012760	60839135	24	11593											
USP12	219333	broad.mit.edu	37	chr13	27680004	27680004	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcctaggttgactcttataCgcaagaactttttcccgaaa	11	14	6	10	2	1	2	0	1	1	1	3	3	3	2	2	1	2	2	2	1	6	7	rs142426104		TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr13:27680004C>T	uc001uqy.3	-	2	464	c.207G>A	c.(205-207)gcG>gcA	p.A69A		NM_182488	NP_872294	O75317	UBP12_HUMAN	Homo sapiens ubiquitin specific peptidase 12 (USP12), mRNA.	69					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		GACTCTTATACGCAAGAACTT	0.393													19	70					0	0	1	0	0	T	27680004	C	T	27680004	2	4	267	1	0	0	0	0	0	0	0	1	17040	523	19	1		1	USP12	13	27680004	Silent	SNP	C	TCGA-HW-8321-01A-11D-2395-08		27680004	87489874	25	11594											
THSD4	79875	broad.mit.edu	37	chr15	71535120	71535120	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctctcatcccgccattcCaggtcccagggagcatcttc	8	9	8	16	1	2	0	1	0	2	0	7	1	5	1	4	2	2	2	4	2	1	2			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr15:71535120C>T	uc002atb.1	+	3	676	c.597C>T	c.(595-597)tcC>tcT	p.S199S	THSD4_uc002atd.1_5'UTR	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	199	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCCGCCATTCCAGGTCCCAGG	0.567													11	114					0	0	1	0	0	T	71535120	C	T	71535120	2	4	267	1	0	0	0	0	0	0	0	1	15875	581	21	3		3	THSD4	15	71535120	Silent	SNP	C	TCGA-HW-8321-01A-11D-2395-08		71535120	30996272	26	11595											
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	7	9	12	13	2	1	0	1	0	0	0	2	2	2	1	4	3	4	3	4	3	2	2	rs28934575		TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr17:7577548C>T	uc002gim.2	-	6	927	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.3_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S|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.	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(600)|p.G245C(110)|p.G245D(99)|p.G245V(58)|p.G244D(42)|p.G244C(37)|p.G244S(37)|p.G245R(20)|p.G244V(14)|p.G244G(13)|p.G244A(9)|p.G245A(8)|p.G152S(8)|p.0?(8)|p.G245fs*2(5)|p.G244fs*3(5)|p.?(5)|p.G245N(4)|p.G244_M246>V(4)|p.G152C(4)|p.G244R(4)|p.G245G(3)|p.G245H(2)|p.G245L(2)|p.G244fs*17(2)|p.G245F(2)|p.C242_M246>L(2)|p.C238_M246delCNSSCMGGM(2)|p.G245fs*22(2)|p.S241_G245delSCMGG(2)|p.G245del(2)|p.G245fs*14(2)|p.G245fs*17(2)|p.G245fs*16(2)|p.G244_M246del(1)|p.G245E(1)|p.G244fs*4(1)|p.G244fs*19(1)|p.C242fs*98(1)|p.G244del(1)|p.M243fs*18(1)|p.M243_G244>IC(1)|p.G244E(1)|p.G151_M153>V(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)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)			46	16					0	0	1	0	0	T	7577548	C	T	7577548	3	4	267	1	0	0	0	0	1	0	0	0	16378	652	23	2	557	2	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-HW-8321-01A-11D-2395-08		7577548	73617662	27	11596											
USP43	124739	broad.mit.edu	37	chr17	9631874	9631874	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctctggaaacagcaaagAcagtcgccgaggcacctctg	12	7	10	12	2	2	1	0	0	2	1	4	3	2	2	2	2	2	2	2	2	2	1			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr17:9631874A>T	uc010cod.3	+	14	2939	c.2939A>T	c.(2938-2940)gAc>gTc	p.D980V	USP43_uc002gma.4_Missense_Mutation_p.D669V|USP43_uc010vva.2_Missense_Mutation_p.D975V|USP43_uc010coe.3_Missense_Mutation_p.D777V|USP43_uc002gmc.4_Missense_Mutation_p.D492V	NM_153210	NP_694942	Q70EL4	UBP43_HUMAN	Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA.	980					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						AACAGCAAAGACAGTCGCCGA	0.572													12	31					0	0	1	0	0	T	9631874	A	T	9631874	3	4	267	1	0	0	0	0	1	0	0	0	17071	275	10	5	2997	5	USP43	17	9631874	Missense_Mutation	SNP	A	TCGA-HW-8321-01A-11D-2395-08	2054326	9631874	71563336	28	11597											
DBF4B	80174	broad.mit.edu	37	chr17	42828250	42828250	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggacattcctgttaagggcCcactcctcttccctgaagcc	7	10	8	16	1	1	1	0	1	1	0	4	2	4	2	5	2	1	1	5	2	2	3			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr17:42828250C>G	uc002ihf.3	+	13	1690	c.1477C>G	c.(1477-1479)Cca>Gca	p.P493A	DBF4B_uc010wjc.2_Intron	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	Homo sapiens DBF4 homolog B (S. cerevisiae) (DBF4B), transcript variant 1, mRNA.	493					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				TGTTAAGGGCCCACTCCTCTT	0.592													49	103					0	0	1	0	0	G	42828250	C	G	42828250	3	3	267	1	0	0	0	0	1	0	0	0	4249	623	22	5	1576	5	DBF4B	17	42828250	Missense_Mutation	SNP	C	TCGA-HW-8321-01A-11D-2395-08	33196376	42828250	38366960	29	11598											
ZNF334	55713	broad.mit.edu	37	chr20	45131229	45131229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgatgtacaatgagggtaGatctcttagaaaaggttttc	12	14	10	5	0	2	4	0	2	2	2	4	4	2	4	0	2	1	3	0	2	6	5			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr20:45131229G>A	uc002xsa.3	-	3	1280	c.818C>T	c.(817-819)tCt>tTt	p.S273F	ZNF334_uc002xsb.3_Missense_Mutation_p.S212F|ZNF334_uc002xsd.3_Missense_Mutation_p.S212F|ZNF334_uc002xsc.3_Missense_Mutation_p.S250F|ZNF334_uc010ghl.3_Missense_Mutation_p.S249F			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AATGAGGGTAGATCTCTTAGA	0.398													52	101					0	0	1	0	0	A	45131229	G	A	45131229	3	1	267	1	0	0	0	0	1	0	0	0	17848	942	33	3	1297	3	ZNF334	20	45131229	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08		45131229	17894291	30	11599											
PRIC285	85441	broad.mit.edu	37	chr20	62196772	62196772	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctcgaaggtctctggcaCgaaagagcagtggcggtacc	9	6	14	12	4	1	1	0	0	1	1	3	3	1	1	2	4	2	4	2	4	3	1			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr20:62196772C>T	uc002yfm.2	-	8	4295	c.3403G>A	c.(3403-3405)Gtg>Atg	p.V1135M	PRIC285_uc002yfl.1_Missense_Mutation_p.V566M	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	1135					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			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)			GTCTCTGGCACGAAAGAGCAG	0.701													4	22					0	0	1	0	0	T	62196772	C	T	62196772	3	4	267	1	0	0	0	0	1	0	0	0	12485	536	19	1	4594	1	PRIC285	20	62196772	Missense_Mutation	SNP	C	TCGA-HW-8321-01A-11D-2395-08	17065543	62196772	828748	31	11600											
FAM123B	139285	broad.mit.edu	37	chrX	63412957	63412957	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtccccctccaaagaaactAggcagagtacagataccctt	13	7	7	14	1	0	3	0	0	0	3	2	3	2	3	4	1	3	2	4	1	5	4			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chrX:63412957A>G	uc022byb.1	-	0	210	c.210T>C	c.(208-210)ccT>ccC	p.P70P	FAM123B_uc004dvo.3_Silent_p.P70P	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	70					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						CAAAGAAACTAGGCAGAGTAC	0.542													13	72					0	0	1	0	0	G	63412957	A	G	63412957	2	3	267	1	0	0	0	0	0	0	0	1	5423	407	15	4		4	FAM123B	23	63412957	Silent	SNP	A	TCGA-HW-8321-01A-11D-2395-08		63412957	91857603	32	11601											
TAS1R3	83756	broad.mit.edu	37	chr1	1267913	1267913	+	Frame_Shift_Del	DEL	C	C	-																															ggtgcccagctgcacgagttCccccagtacgtgaagacgca																										TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr1:1267913delC	uc010nyk.2	+	2	1002	c.1002delC	c.(1000-1002)ttcfs	p.F334fs		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	Homo sapiens taste receptor, type 1, member 3 (TAS1R3), mRNA.	334					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	TGCACGAGTTCCCCCAGTACG	0.692													15	29	---	---	---	---						-	1267913	C	-	1267913	7	5	268	1	0	1	0	1	0	0	0	0	15561	854	30	0	1012	0	TAS1R3	1	1267913	Frame_Shift_Del	DEL	C	TCGA-HW-8322-01A-11D-2395-08		1267913	247982708	1	11602											
C8B	732	broad.mit.edu	37	chr1	57417781	57417781	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtgttcaggatgtaatgCggggagcatccacctgcata	9	10	12	10	2	1	0	1	0	0	0	3	2	2	2	2	3	3	4	2	3	2	3	rs34438223	byFrequency	TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr1:57417781C>T	uc001cyp.3	-	4	673	c.606G>A	c.(604-606)ccG>ccA	p.P202P	C8B_uc010oon.2_Silent_p.P140P|C8B_uc010ooo.2_Silent_p.P150P	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	202	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.P202P(2)|p.P202L(1)|p.P202Q(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GGATGTAATGCGGGGAGCATC	0.507													5	104					0	0	1	0	0	T	57417781	C	T	57417781	2	4	268	1	0	0	0	0	0	0	0	1	2417	755	27	1		1	C8B	1	57417781	Silent	SNP	C	TCGA-HW-8322-01A-11D-2395-08	56149868	57417781	191832840	2	11603											
KCNT2	343450	broad.mit.edu	37	chr1	196250118	196250118	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatctgcagtgattttcaTctataacacacacaaattat	14	14	4	9	0	4	1	2	1	2	0	4	1	4	1	0	0	2	1	0	0	4	5			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr1:196250118T>C	uc001gtd.1	-	25	2842	c.2782_splice	c.e25-1	p.M928_splice	KCNT2_uc009wyt.1_Splice_Site|KCNT2_uc001gte.1_Splice_Site_p.M854_splice|KCNT2_uc001gtf.1_Splice_Site_p.M904_splice|KCNT2_uc001gtg.1_Splice_Site|KCNT2_uc009wyu.3_Splice_Site_p.M904_splice|KCNT2_uc001gth.1_Splice_Site_p.M425_splice	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	928						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GTGATTTTCATCTATAACACA	0.348													9	16					0	0	1	0	0	C	196250118	T	C	196250118	5	2	268	1	0	0	0	0	0	0	1	0	8092	1449	50	3	641	3	KCNT2	1	196250118	Splice_Site	SNP	T	TCGA-HW-8322-01A-11D-2395-08	138832337	196250118	53000503	3	11604											
C1orf186	440712	broad.mit.edu	37	chr1	206243208	206243208	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagcaggcctgcaggaagagGgacaccaccgcgatcactaa	14	3	12	12	2	1	1	1	0	0	1	1	4	1	3	3	3	2	2	3	3	3	1			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr1:206243208G>A	uc001hdt.1	-	2	693	c.54C>T	c.(52-54)tcC>tcT	p.S18S		NM_001007544	NP_001007545	Q6ZWK4	CA186_HUMAN	Homo sapiens chromosome 1 open reading frame 186 (C1orf186), mRNA.	18						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GCAGGAAGAGGGACACCACCG	0.527													31	47					0	0	1	0	0	A	206243208	G	A	206243208	2	1	268	1	0	0	0	0	0	0	0	1	2020	1219	43	3		3	C1orf186	1	206243208	Silent	SNP	G	TCGA-HW-8322-01A-11D-2395-08	9993090	206243208	43007413	4	11605											
MIA3	375056	broad.mit.edu	37	chr1	222805521	222805521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctagagatgcaaccactgCatgaagataatttctcacga	14	9	7	11	1	1	3	1	1	1	2	2	5	1	3	2	0	3	2	2	0	4	3			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr1:222805521C>T	uc001hnl.3	+	4	3193	c.3184C>T	c.(3184-3186)Cat>Tat	p.H1062Y	MIA3_uc009xea.1_Missense_Mutation_p.H898Y	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	1062					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GCAACCACTGCATGAAGATAA	0.498													16	99					0	0	1	0	0	T	222805521	C	T	222805521	3	4	268	1	0	0	0	0	1	0	0	0	9565	710	25	3	3202	3	MIA3	1	222805521	Missense_Mutation	SNP	C	TCGA-HW-8322-01A-11D-2395-08	16562313	222805521	26445100	5	11606											
SPR	6697	broad.mit.edu	37	chr2	73114723	73114723	+	Frame_Shift_Del	DEL	G	G	-																															cgccagctggaggccgagctGggcgccgagcggtctggcct																										TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr2:73114723delG	uc002sik.2	+	0	212	c.162delG	c.(160-162)ctgfs	p.L54fs		NM_003124	NP_003115	P35270	SPRE_HUMAN	Homo sapiens sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase) (SPR), mRNA.	54					nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	NADP binding|aldo-keto reductase (NADP) activity|sepiapterin reductase activity			lung(4)|ovary(2)	6						AGGCCGAGCTGGGCGCCGAGC	0.771													2	4	---	---	---	---						-	73114723	G	-	73114723	7	5	268	1	0	1	0	1	0	0	0	0	15090	1335	47	0	164	0	SPR	2	73114723	Frame_Shift_Del	DEL	G	TCGA-HW-8322-01A-11D-2395-08		73114723	170084650	6	11607											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								28	47					0	0	1	0	0	T	209113112	C	T	209113112	3	4	268	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-8322-01A-11D-2395-08	135998389	209113112	34086261	7	11608											
NEU2	4759	broad.mit.edu	37	chr2	233898908	233898909	+	Frame_Shift_Ins	INS	-	-	G																															cccttgtatgacgcgcagacINSggggaccctcttcctcttct																										TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr2:233898908_233898909insG	uc010zmn.2	+	1	284_285	c.284_285insG	c.(283-285)acgfs	p.T95fs		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	95							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GACGCGCAGACGGGGACCCTCT	0.619													32	157	---	---	---	---						G	233898909	-	G	233898908	7	5	268	1	0	1	1	0	0	0	0	0	10342	536	19	0	290	0	NEU2	2	233898908	Frame_Shift_Ins	INS	-	TCGA-HW-8322-01A-11D-2395-08	24785796	233898908	9300465	8	11609											
ROBO1	6091	broad.mit.edu	37	chr3	78685111	78685111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccctgatggattgacaaaaCgcccatccttcagatttggg	10	10	10	11	1	1	3	1	2	0	1	2	4	2	4	3	2	1	0	3	2	2	3			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr3:78685111C>T	uc003dqe.2	-	22	3393	c.3185G>A	c.(3184-3186)cGt>cAt	p.R1062H	ROBO1_uc003dqc.2_Intron|ROBO1_uc003dqd.2_Missense_Mutation_p.R1017H|ROBO1_uc003dqb.2_Missense_Mutation_p.R1023H|ROBO1_uc010hoh.2_Missense_Mutation_p.R254H|ROBO1_uc011bgl.1_Missense_Mutation_p.R634H	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	1062					Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis	cell surface|cytoplasm|integral to plasma membrane	LRR domain binding|axon guidance receptor activity|identical protein binding	p.R1039H(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ATTGACAAAACGCCCATCCTT	0.473													60	70					0	0	1	0	0	T	78685111	C	T	78685111	3	4	268	1	0	0	0	0	1	0	0	0	13513	536	19	1	1806	1	ROBO1	3	78685111	Missense_Mutation	SNP	C	TCGA-HW-8322-01A-11D-2395-08		78685111	119337319	9	11610											
ARL6	84100	broad.mit.edu	37	chr3	97487028	97487028	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttttgtgccttgggctagAtaatagtggcaaaacgacga	11	12	12	6	2	0	1	0	0	0	1	0	3	0	1	1	2	2	3	1	2	5	6			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr3:97487028A>G	uc003drv.3	+	2	390	c.77A>G	c.(76-78)gAt>gGt	p.D26G	ARL6_uc003drw.3_Non-coding_Transcript|ARL6_uc003dru.3_Missense_Mutation_p.D26G|ARL6_uc010hoy.3_Missense_Mutation_p.D26G	NM_177976	NP_816931	Q9H0F7	ARL6_HUMAN	Homo sapiens ADP-ribosylation factor-like 6 (ARL6), transcript variant 2, mRNA.	26					Wnt receptor signaling pathway|cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		CTTGGGCTAGATAATAGTGGC	0.338													9	47					0	0	1	0	0	G	97487028	A	G	97487028	3	3	268	1	0	0	0	0	1	0	0	0	941	333	12	3	79	3	ARL6	3	97487028	Missense_Mutation	SNP	A	TCGA-HW-8322-01A-11D-2395-08	18801917	97487028	100535402	10	11611											
RAD17	5884	broad.mit.edu	37	chr5	68689027	68689027	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctcggttgccctctcattTatcagaatatgaacgggata	11	12	8	10	2	2	2	2	1	1	1	4	3	2	3	2	2	2	1	2	2	5	5			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr5:68689027T>C	uc003jwo.3	+	10	1330	c.1268T>C	c.(1267-1269)tTa>tCa	p.L423S	RAD17_uc003jwg.3_Missense_Mutation_p.L412S|RAD17_uc003jwi.3_Missense_Mutation_p.L412S|RAD17_uc003jwh.3_Missense_Mutation_p.L412S|RAD17_uc003jwj.3_Missense_Mutation_p.L412S|RAD17_uc003jwk.3_Missense_Mutation_p.L412S|RAD17_uc003jwl.3_Missense_Mutation_p.L412S|RAD17_uc003jwm.3_Missense_Mutation_p.L247S|RAD17_uc003jwn.3_Missense_Mutation_p.L326S	NM_133339	NP_579917	O75943	RAD17_HUMAN	Homo sapiens RAD17 homolog (S. pombe) (RAD17), transcript variant 2, mRNA.	423					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|cell cycle|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		CCCTCTCATTTATCAGAATAT	0.313								Other conserved DNA damage response genes					13	20					0	0	1	0	0	C	68689027	T	C	68689027	3	2	268	1	0	0	0	0	1	0	0	0	12979	1764	61	3	1323	3	RAD17	5	68689027	Missense_Mutation	SNP	T	TCGA-HW-8322-01A-11D-2395-08		68689027	112226233	11	11612											
KCNN2	3781	broad.mit.edu	37	chr5	113698887	113698887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggctcagcgactacgcgCtcatcttcggcatgttcggc	6	9	12	14	6	3	0	2	0	1	0	5	1	3	0	0	3	3	4	0	3	1	3			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr5:113698887C>T	uc003kqo.3	+	0	872	c.415C>T	c.(415-417)Ctc>Ttc	p.L139F		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 (KCNN2), transcript variant 1, mRNA.	139						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	p.A138V(1)|p.A138S(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CGACTACGCGCTCATCTTCGG	0.597													17	51					0	0	1	0	0	T	113698887	C	T	113698887	3	4	268	1	0	0	0	0	1	0	0	0	8079	797	28	3	417	3	KCNN2	5	113698887	Missense_Mutation	SNP	C	TCGA-HW-8322-01A-11D-2395-08	45009860	113698887	67216373	12	11613											
GPR6	2830	broad.mit.edu	37	chr6	110301179	110301179	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgtggtgctgggcactttCggcgccagctggctgccctt	2	11	15	13	2	0	0	0	0	0	0	1	0	0	0	2	4	3	5	2	4	0	2			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr6:110301179C>T	uc011eav.2	+	2	1153	c.909C>T	c.(907-909)ttC>ttT	p.F303F	GPR6_uc011eaw.2_Silent_p.F288F|GPR6_uc003ptu.3_Silent_p.F288F|GPR6_uc021zds.1_Silent_p.F288F	NM_005284	NP_005275	P46095	GPR6_HUMAN	Homo sapiens G protein-coupled receptor 6 (GPR6), mRNA.	288						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		TGGGCACTTTCGGCGCCAGCT	0.657													4	77					0	0	1	0	0	T	110301179	C	T	110301179	2	4	268	1	0	0	0	0	0	0	0	1	6701	883	31	2		2	GPR6	6	110301179	Silent	SNP	C	TCGA-HW-8322-01A-11D-2395-08		110301179	60813888	13	11614											
TBRG4	9238	broad.mit.edu	37	chr7	45144244	45144244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacggaccgccggctctgaGctgccagcatcaccagcacc	8	4	11	18	3	2	1	1	1	1	0	2	2	2	2	5	2	4	5	5	2	0	0	rs146485929	byFrequency	TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr7:45144244G>A	uc011kcd.2	-	3	882	c.833C>T	c.(832-834)gCt>gTt	p.A278V	TBRG4_uc003tmu.3_Missense_Mutation_p.A92V|TBRG4_uc003tmv.3_Missense_Mutation_p.A267V|TBRG4_uc003tmw.3_Intron|TBRG4_uc003tmx.3_Intron|SNORA5A_uc003tmy.3_5'Flank	NM_004749	NP_004740	Q969Z0	TBRG4_HUMAN	Homo sapiens transforming growth factor beta regulator 4 (TBRG4), transcript variant 1, mRNA.	267					G1 phase of mitotic cell cycle|apoptosis|cell cycle arrest|cellular respiration|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						CCGGCTCTGAGCTGCCAGCAT	0.612													4	68					0	0	1	0	0	A	45144244	G	A	45144244	3	1	268	1	0	0	0	0	1	0	0	0	15646	971	34	3	1127	3	TBRG4	7	45144244	Missense_Mutation	SNP	G	TCGA-HW-8322-01A-11D-2395-08		45144244	113994419	14	11615											
SERPINE1	5054	broad.mit.edu	37	chr7	100779018	100779018	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagagcctctccacgtcgcGcaggcgctgcagaaagtgaa	11	5	12	13	4	1	3	0	1	1	2	3	3	1	3	2	1	2	3	2	1	3	0			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr7:100779018G>A	uc003uxt.3	+	6	1171	c.1023G>A	c.(1021-1023)gcG>gcA	p.A341A	SERPINE1_uc011kkj.2_Silent_p.A326A|SERPINE1_uc003uxu.2_3'UTR|SERPINE1_uc022aix.1_5'Flank	NM_000602	NP_000593	P05121	PAI1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 (SERPINE1), transcript variant 1, mRNA.	341					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	p.V340I(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	TCCACGTCGCGCAGGCGCTGC	0.587													33	95					0	0	1	0	0	A	100779018	G	A	100779018	2	1	268	1	0	0	0	0	0	0	0	1	14111	1074	38	1		1	SERPINE1	7	100779018	Silent	SNP	G	TCGA-HW-8322-01A-11D-2395-08	55634774	100779018	58359645	15	11616											
NOTCH1	4851	broad.mit.edu	37	chr9	139395301	139395301	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagcggggtgaagccatcTgcagaggcagagacgggtgc	10	5	18	8	2	1	4	0	2	1	2	1	5	1	4	1	4	4	2	1	4	1	0			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr9:139395301T>G	uc004chz.3	-	31	5639	c.5639_splice	c.e31-1	p.D1880_splice		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	1880					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGAAGCCATCTGCAGAGGCAG	0.701			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			3	30					0	0	1	0	0	G	139395301	T	G	139395301	5	3	268	1	0	0	0	0	0	0	1	0	10547	1594	55	5	2046	5	NOTCH1	9	139395301	Splice_Site	SNP	T	TCGA-HW-8322-01A-11D-2395-08		139395301	1818130	16	11617											
NOTCH1	4851	broad.mit.edu	37	chr9	139399848	139399848	+	Frame_Shift_Del	DEL	G	G	-																															ctgtcacagtggccgtcactGaagtacttccagcactgcag																										TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr9:139399848delG	uc004chz.3	-	24	4500	c.4500delC	c.(4498-4500)ttcfs	p.F1500fs	NOTCH1_uc004cia.1_Frame_Shift_Del_p.F730fs	NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	1500					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCCGTCACTGAAGTACTTCC	0.617			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			18	21	---	---	---	---						-	139399848	G	-	139399848	7	5	268	1	0	1	0	1	0	0	0	0	10547	1281	45	0	3207	0	NOTCH1	9	139399848	Frame_Shift_Del	DEL	G	TCGA-HW-8322-01A-11D-2395-08	4547	139399848	1813583	17	11618											
BRAP	8315	broad.mit.edu	37	chr12	112110475	112110475	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcacacttacatcttcagatTtgagcacttcagctctttcc	9	15	4	13	0	5	2	3	1	2	1	6	2	6	2	1	0	3	2	1	0	1	5	rs150096881		TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr12:112110475T>C	uc001tsn.4	-	4	931	c.737A>G	c.(736-738)aAa>aGa	p.K246R	BRAP_uc010syh.2_Intron|BRAP_uc009zvv.3_Missense_Mutation_p.K216R	NM_006768	NP_006759	Q7Z569	BRAP_HUMAN	Homo sapiens BRCA1 associated protein (BRAP), mRNA.	246					MAPKKK cascade|Ras protein signal transduction|negative regulation of signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						ATCTTCAGATTTGAGCACTTC	0.363													27	46					0	0	1	0	0	C	112110475	T	C	112110475	3	2	268	1	0	0	0	0	1	0	0	0	1497	1841	64	3	1073	3	BRAP	12	112110475	Missense_Mutation	SNP	T	TCGA-HW-8322-01A-11D-2395-08		112110475	21741420	18	11619											
REC8	9985	broad.mit.edu	37	chr14	24642224	24642224	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatcggtgtgatccgcgtctAttctcaacaatgccagtacc	9	11	9	12	3	2	1	1	1	2	0	5	2	3	1	3	1	3	1	3	1	4	3			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr14:24642224A>G	uc001wmr.3	+	3	669	c.242A>G	c.(241-243)tAt>tGt	p.Y81C	REC8_uc001wms.3_Missense_Mutation_p.Y81C	NM_005132	NP_005123	O95072	REC8_HUMAN	Homo sapiens REC8 homolog (yeast) (REC8), transcript variant 1, mRNA.	81					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		ATCCGCGTCTATTCTCAACAA	0.617													52	78					0	0	1	0	0	G	24642224	A	G	24642224	3	3	268	1	0	0	0	0	1	0	0	0	13199	449	16	3	252	3	REC8	14	24642224	Missense_Mutation	SNP	A	TCGA-HW-8322-01A-11D-2395-08		24642224	82707316	19	11620											
EML5	161436	broad.mit.edu	37	chr14	89160703	89160703	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgtaattagtttatcAggcacataggggttcatctt	10	14	9	8	0	3	0	2	0	1	0	3	0	3	0	1	3	1	5	1	3	4	7			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr14:89160703A>T	uc021ryf.1	-	16	2736	c.2487T>A	c.(2485-2487)ccT>ccA	p.P829P	EML5_uc021ryg.1_Silent_p.P829P|EML5_uc001xxh.1_Silent_p.P6P	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	829						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TTAGTTTATCAGGCACATAGG	0.308													2	4					0	0	1	0	0	T	89160703	A	T	89160703	2	4	268	1	0	0	0	0	0	0	0	1	5100	175	7	5		5	EML5	14	89160703	Silent	SNP	A	TCGA-HW-8322-01A-11D-2395-08	64518479	89160703	18188837	20	11621											
ADSSL1	122622	broad.mit.edu	37	chr14	105209429	105209429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggcctgctgcagacccGcggccacgagtggggagtga	7	5	18	11	3	0	2	0	1	0	1	0	5	0	4	3	5	2	2	3	5	0	0			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr14:105209429G>A	uc001ypd.3	+	9	1048	c.974G>A	c.(973-975)cGc>cAc	p.R325H	ADSSL1_uc001ype.3_Missense_Mutation_p.R368H|ADSSL1_uc001ypf.3_Non-coding_Transcript	NM_152328	NP_689541	Q8N142	PURA1_HUMAN	Homo sapiens adenylosuccinate synthase like 1 (ADSSL1), transcript variant 2, mRNA.	325					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	GTP binding|adenylosuccinate synthase activity|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	CTGCAGACCCGCGGCCACGAG	0.612													44	66					0	0	1	0	0	A	105209429	G	A	105209429	3	1	268	1	0	0	0	0	1	0	0	0	348	1087	38	1	1337	1	ADSSL1	14	105209429	Missense_Mutation	SNP	G	TCGA-HW-8322-01A-11D-2395-08	16048726	105209429	2140111	21	11622											
MYH3	4621	broad.mit.edu	37	chr17	10536939	10536939	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagagccagctggatatcaGccttttccagctcaatctgc	9	10	9	13	1	3	1	2	0	1	1	4	3	4	2	3	1	5	2	3	1	2	3			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr17:10536939G>C	uc002gmq.2	-	32	4704	c.4616C>G	c.(4615-4617)gCt>gGt	p.A1539G		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1539					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTGGATATCAGCCTTTTCCAG	0.527													5	94					0	0	1	0	0	C	10536939	G	C	10536939	3	2	268	1	0	0	0	0	1	0	0	0	10036	971	34	5	1242	5	MYH3	17	10536939	Missense_Mutation	SNP	G	TCGA-HW-8322-01A-11D-2395-08		10536939	70658271	22	11623											
PIP4K2B	8396	broad.mit.edu	37	chr17	36936783	36936783	+	Frame_Shift_Del	DEL	G	G	-																															ttgatgacaaagcgccggtcGtaggtggtgaggaaacgcgt																										TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr17:36936783delG	uc002hqs.3	-	3	910	c.429delC	c.(427-429)tacfs	p.Y143fs	PIP4K2B_uc021twj.1_Frame_Shift_Del_p.Y143fs	NM_003559	NP_003550	P78356	PI42B_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, beta (PIP4K2B), mRNA.	143	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						AGCGCCGGTCGTAGGTGGTGA	0.552													10	166	---	---	---	---						-	36936783	G	-	36936783	7	5	268	1	0	1	0	1	0	0	0	0	11937	1140	40	0	849	0	PIP4K2B	17	36936783	Frame_Shift_Del	DEL	G	TCGA-HW-8322-01A-11D-2395-08	26399844	36936783	44258427	23	11624											
SMARCA4	6597	broad.mit.edu	37	chr19	11143994	11143994	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcgcaggaccgagcccaccGcatcgggcagcagaacgagg	11	1	15	14	5	0	1	0	0	0	1	1	4	0	2	3	3	4	4	3	3	1	0			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr19:11143994G>A	uc010dxp.3	+	26	3935	c.3575G>A	c.(3574-3576)cGc>cAc	p.R1192H	SMARCA4_uc010dxo.3_Missense_Mutation_p.R1192H|SMARCA4_uc002mqf.4_Missense_Mutation_p.R1192H|SMARCA4_uc010dxq.3_Missense_Mutation_p.R1192H|SMARCA4_uc010dxr.3_Missense_Mutation_p.R1192H|SMARCA4_uc002mqj.4_Missense_Mutation_p.R1192H|SMARCA4_uc010dxs.3_Missense_Mutation_p.R1192H|SMARCA4_uc010dxt.1_Missense_Mutation_p.R412H|SMARCA4_uc002mqh.4_Missense_Mutation_p.R315H|SMARCA4_uc002mqi.1_Missense_Mutation_p.R395H	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	1192	Helicase C-terminal.				chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.H1191R(1)|p.R1192C(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGAGCCCACCGCATCGGGCAG	0.612			"F, N, Mis"		NSCLC								33	70					0	0	1	0	0	A	11143994	G	A	11143994	3	1	268	1	0	0	0	0	1	0	0	0	14770	1087	38	1	3673	1	SMARCA4	19	11143994	Missense_Mutation	SNP	G	TCGA-HW-8322-01A-11D-2395-08		11143994	47984989	24	11625											
GIPC1	10755	broad.mit.edu	37	chr19	14591417	14591417	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcaccttgatgaaggcGtagccagccccgttgtccgt	7	8	12	14	3	0	2	0	2	0	0	1	2	1	2	6	2	2	3	6	2	2	3			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr19:14591417G>A	uc002myt.3	-	4	732	c.462C>T	c.(460-462)taC>taT	p.Y154Y	GIPC1_uc002myv.3_Silent_p.Y57Y|GIPC1_uc002myu.3_Silent_p.Y154Y|GIPC1_uc002myw.3_Silent_p.Y57Y|GIPC1_uc002myx.3_Silent_p.Y154Y|GIPC1_uc002myy.3_Silent_p.Y57Y	NM_005716	NP_974223	O14908	GIPC1_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 1 (GIPC1), transcript variant 1, mRNA.	154	PDZ.				G-protein coupled receptor protein signaling pathway|endothelial cell migration|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TGATGAAGGCGTAGCCAGCCC	0.657											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	53	60					0	0	1	0	0	A	14591417	G	A	14591417	2	1	268	1	0	0	0	0	0	0	0	1	6392	1140	40	1		1	GIPC1	19	14591417	Silent	SNP	G	TCGA-HW-8322-01A-11D-2395-08	3447423	14591417	44537566	25	11626											
TFPT	29844	broad.mit.edu	37	chr19	54611508	54611508	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctggaggctcattctccGcattgcctggggtgggggca	4	11	15	11	1	3	0	1	0	2	0	5	1	3	1	2	6	1	3	2	6	0	2			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr19:54611508G>A	uc010yej.1	-	4	873	c.467C>T	c.(466-468)gCg>gTg	p.A156V		NM_013342	NP_037474	P0C1Z6	TFPT_HUMAN	Homo sapiens TCF3 (E2A) fusion partner (in childhood Leukemia) (TFPT), mRNA.	156					DNA recombination|DNA repair|apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|cytoplasm	DNA binding|protein binding	p.A156A(1)		large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					CTCATTCTCCGCATTGCCTGG	0.677			T	TCF3	pre-B ALL								10	9					0	0	1	0	0	A	54611508	G	A	54611508	3	1	268	1	0	0	0	0	1	0	0	0	15807	1087	38	1	302	1	TFPT	19	54611508	Missense_Mutation	SNP	G	TCGA-HW-8322-01A-11D-2395-08	40020091	54611508	4517475	26	11627											
HUNK	30811	broad.mit.edu	37	chr21	33371363	33371363	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgatgggcatcggacagAtgttaaggaagcgccatcag	12	8	13	8	2	1	2	1	1	0	1	2	4	1	4	1	3	1	2	1	3	3	2			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr21:33371363A>C	uc002yph.3	+	10	2371	c.2011A>C	c.(2011-2013)Atg>Ctg	p.M671L		NM_014586	NP_055401	P57058	HUNK_HUMAN	Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA.	671					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CATCGGACAGATGTTAAGGAA	0.617													5	122					0	0	1	0	0	C	33371363	A	C	33371363	3	2	268	1	0	0	0	0	1	0	0	0	7458	333	12	5	2053	5	HUNK	21	33371363	Missense_Mutation	SNP	A	TCGA-HW-8322-01A-11D-2395-08		33371363	14758532	27	11628											
TTC3	7267	broad.mit.edu	37	chr21	38568034	38568035	+	Frame_Shift_Ins	INS	-	-	T																															ggccaagggcttgtgacttcINStgcaagcgacgtgactggaa																										TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr21:38568034_38568035insT	uc002yvz.3	+	41	5381_5382	c.5276_5277insT	c.(5275-5277)tctfs	p.S1759fs	TTC3_uc002ywa.3_Frame_Shift_Ins_p.S1759fs|TTC3_uc002ywb.3_Frame_Shift_Ins_p.S1759fs|TTC3_uc010gnf.3_Frame_Shift_Ins_p.S1524fs|TTC3_uc002ywc.3_Frame_Shift_Ins_p.S1449fs	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	1759					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CTTGTGACTTCTGCAAGCGACG	0.569													7	344	---	---	---	---						T	38568035	-	T	38568034	7	5	268	1	0	1	1	0	0	0	0	0	16694	913	32	0	5438	0	TTC3	21	38568034	Frame_Shift_Ins	INS	-	TCGA-HW-8322-01A-11D-2395-08	5196671	38568034	9561861	28	11629											
BCR	613	broad.mit.edu	37	chr22	23523557	23523557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgcccgcaggcccggggcagCcgcgtcgggggaacgggacg	5	1	20	15	8	0	0	0	0	0	0	1	2	0	2	3	6	2	2	3	6	1	0			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr22:23523557C>T	uc002zww.3	+	0	1006	c.410C>T	c.(409-411)gCc>gTc	p.A137V	BCR_uc002zwx.3_Missense_Mutation_p.A137V	NM_004327	NP_004318	P11274	BCR_HUMAN	Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA.	137	Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CCCGGGGCAGCCGCGTCGGGG	0.801			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"								3	37					0	0	1	0	0	T	23523557	C	T	23523557	3	4	268	1	0	0	0	0	1	0	0	0	1388	739	26	3	412	3	BCR	22	23523557	Missense_Mutation	SNP	C	TCGA-HW-8322-01A-11D-2395-08		23523557	27781009	29	11630											
APOL1	8542	broad.mit.edu	37	chr22	36661324	36661324	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagagtttcctcggttgAaaagtgagcttgaggataac	13	11	12	5	1	0	5	0	4	0	1	2	6	1	6	1	2	2	3	1	2	4	4			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr22:36661324A>G	uc003ape.3	+	6	764	c.490A>G	c.(490-492)Aaa>Gaa	p.K164E	APOL1_uc011amn.1_Missense_Mutation_p.K25E|APOL1_uc021wom.1_Non-coding_Transcript|APOL1_uc011amo.2_Missense_Mutation_p.K25E|APOL1_uc003apf.3_Missense_Mutation_p.K148E|APOL1_uc011amp.2_Missense_Mutation_p.K148E|APOL1_uc011amq.2_Missense_Mutation_p.K130E|APOL1_uc010gwx.3_Missense_Mutation_p.K25E	NM_145343	NP_003652	O14791	APOL1_HUMAN	Homo sapiens apolipoprotein L, 1 (APOL1), transcript variant 2, mRNA.	148					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						TCCTCGGTTGAAAAGTGAGCT	0.478													62	93					0	0	1	0	0	G	36661324	A	G	36661324	3	3	268	1	0	0	0	0	1	0	0	0	805	247	9	3	512	3	APOL1	22	36661324	Missense_Mutation	SNP	A	TCGA-HW-8322-01A-11D-2395-08	13137767	36661324	14643242	30	11631											
VCX3B	425054	broad.mit.edu	37	chrX	8434346	8434346	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcaggagagccaggtggaGgaaccactgagtcaggagag	13	4	17	7	0	2	3	2	1	0	2	2	7	2	5	2	5	2	0	2	5	1	0	rs808146		TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chrX:8434346G>A	uc011mht.2	+	2	970	c.663G>A	c.(661-663)gaG>gaA	p.E221E	VCX3B_uc004csd.1_Splice_Site_p.E171_splice|VCX3B_uc022bsj.1_Non-coding_Transcript	NM_001001888	NP_001001888	Q9H321	VCX3B_HUMAN	Homo sapiens variable charge, X-linked 3B (VCX3B), mRNA.	0						nucleolus				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						GCCAGGTGGAGGAACCACTGA	0.557													6	90					0	0	1	0	0	A	8434346	G	A	8434346	2	1	268	1	0	0	0	0	0	0	0	1	17142	991	35	3		3	VCX3B	23	8434346	Silent	SNP	G	TCGA-HW-8322-01A-11D-2395-08		8434346	146836214	31	11632											
LRRC8B	23507	broad.mit.edu	37	chr1	90049110	90049110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcttttacaggatataagCgctaccagtgtgtctattcc	10	13	9	9	1	1	0	0	0	1	0	2	1	2	1	2	2	3	2	2	2	5	7			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr1:90049110C>T	uc001dni.3	+	6	1408	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C	LRRC8B_uc001dnh.3_Missense_Mutation_p.R301C|LRRC8B_uc001dnj.3_Missense_Mutation_p.R301C	NM_001134476	NP_056165	Q6P9F7	LRC8B_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member B (LRRC8B), transcript variant 2, mRNA.	301						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		AGGATATAAGCGCTACCAGTG	0.383													49	30					0	0	1	0	0	T	90049110	C	T	90049110	3	4	269	1	0	0	0	0	1	0	0	0	9022	768	27	1	903	1	LRRC8B	1	90049110	Missense_Mutation	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08		90049110	159201511	1	11633											
PI4KB	5298	broad.mit.edu	37	chr1	151265460	151265461	+	Frame_Shift_Del	DEL	TT	TT	-																															atgctcatgtggaacctctcTttgaggtttcgaatggtgct																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr1:151265460_151265461delTT	uc001exr.3	-	12	2993_2994	c.2354_2355delAA	c.(2353-2355)aaafs	p.K785fs	PI4KB_uc001exs.3_Frame_Shift_Del_p.K758fs|PI4KB_uc001exu.3_Frame_Shift_Del_p.K758fs|PI4KB_uc010pcw.2_Frame_Shift_Del_p.K441fs|PI4KB_uc001ext.3_Frame_Shift_Del_p.K773fs	NM_002651	NP_001185704	Q9UBF8	PI4KB_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, beta (PI4KB), transcript variant 1, mRNA.	773					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	Golgi apparatus|endosome|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GGAACCTCTCTTTGAGGTTTCG	0.564													46	55	---	---	---	---						-	151265461	TT	-	151265460	7	5	269	1	0	1	0	1	0	0	0	0	11874	1606	56	0	135	0	PI4KB	1	151265460	Frame_Shift_Del	DEL	TT	TCGA-HW-A5KJ-01A-12D-A27K-08	61216350	151265460	97985161	2	11634											
FLG	2312	broad.mit.edu	37	chr1	152281299	152281299	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcttgtccatgcccaatGcctgagtgtctggagctgtc	7	11	12	11	0	1	1	0	1	1	0	3	3	2	2	3	1	4	2	3	1	2	1			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr1:152281299G>A	uc001ezu.1	-	2	6099	c.6063C>T	c.(6061-6063)ggC>ggT	p.G2021G		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2021	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGCCCAATGCCTGAGTGTC	0.547									Ichthyosis				25	1025					0	0	1	0	0	A	152281299	G	A	152281299	2	1	269	1	0	0	0	0	0	0	0	1	5922	1306	46	3		3	FLG	1	152281299	Silent	SNP	G	TCGA-HW-A5KJ-01A-12D-A27K-08	1015839	152281299	96969322	3	11635											
NAV1	89796	broad.mit.edu	37	chr1	201752572	201752577	+	In_Frame_Del	DEL	CCAATC	CCAATC	-																															tgtcaaaccaccctcactagCcaatcttgacaaggtcaact																								rs150728227		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr1:201752572_201752577delCCAATC	uc021phi.1	+	6	2743_2748	c.2396_2401delCCAATC	c.(2395-2403)gccaatctt>gtt	p.799_801ANL>V	NAV1_uc001gwu.3_In_Frame_Del_p.799_801ANL>V|NAV1_uc001gwv.1_In_Frame_Del_p.307_309ANL>V|NAV1_uc001gww.2_In_Frame_Del_p.408_410ANL>V|NAV1_uc001gwx.3_In_Frame_Del_p.408_410ANL>V|NAV1_uc001gwy.1_In_Frame_Del_p.180_182ANL>V	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	799					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCCTCACTAGCCAATCTTGACAAGGT	0.456													9	508	---	---	---	---						-	201752577	CCAATC	-	201752572	7	5	269	1	0	1	0	1	0	0	0	0	10183	739	26	0	2479	0	NAV1	1	201752572	In_Frame_Del	DEL	CCAATC	TCGA-HW-A5KJ-01A-12D-A27K-08	49471273	201752572	47498049	4	11636											
OR14A16	284532	broad.mit.edu	37	chr1	247978839	247978840	+	Frame_Shift_Del	DEL	AT	AT	-																															aaggcagagatccaagaaagAtagattcttcaagaagaaat																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr1:247978839_247978840delAT	uc001idm.1	-	0	192_193	c.192_193delAT	c.(190-195)ctatctfs	p.L64fs		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TCCAAGAAAGATAGATTCTTCA	0.421													29	45	---	---	---	---						-	247978840	AT	-	247978839	7	5	269	1	0	1	0	1	0	0	0	0	10945	333	12	0	740	0	OR14A16	1	247978839	Frame_Shift_Del	DEL	AT	TCGA-HW-A5KJ-01A-12D-A27K-08	46226267	247978839	1271782	5	11637											
BRE	9577	broad.mit.edu	37	chr2	28550157	28550158	+	Frame_Shift_Del	DEL	AG	AG	-																															ccaggggatgccaagggagcAgagatgcctgcagcccgtgg																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr2:28550157_28550158delAG	uc002rls.3	+	11	1357_1358	c.1105_1106delAG	c.(1105-1107)agafs	p.R369fs	BRE_uc002rlp.1_Intron|BRE_uc002rlq.3_Intron|BRE_uc002rlr.3_Intron|BRE_uc002rlt.3_Intron|BRE_uc002rlu.3_Intron|BRE_uc002rlv.3_Intron	NM_004899	NP_004890	Q9NXR7	BRE_HUMAN	Homo sapiens brain and reproductive organ-expressed (TNFRSF1A modulator) (BRE), transcript variant 1, mRNA.	0					G2/M transition DNA damage checkpoint|apoptosis|chromatin modification|double-strand break repair|positive regulation of DNA repair|positive regulation of anti-apoptosis|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	p.R369K(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					CCAAGGGAGCAGAGATGCCTGC	0.609													57	135	---	---	---	---						-	28550158	AG	-	28550157	7	5	269	1	0	1	0	1	0	0	0	0	1509	180	7	0	1194	0	BRE	2	28550157	Frame_Shift_Del	DEL	AG	TCGA-HW-A5KJ-01A-12D-A27K-08		28550157	214649216	6	11638											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135920344	135920346	+	In_Frame_Del	DEL	AAG	AAG	-																															tcgaaaacatttcttcagttAagaagatcataaagcagata																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr2:135920344_135920346delAAG	uc010fnf.3	+	20	2456_2458	c.2413_2415delAAG	c.(2413-2415)aagdel	p.K806del	RAB3GAP1_uc002tuj.3_In_Frame_Del_p.K806del|RAB3GAP1_uc010fng.3_In_Frame_Del_p.K631del|RAB3GAP1_uc010fnh.1_Non-coding_Transcript	NM_001172435	NP_001165906	Q15042	RB3GP_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 1 (catalytic) (RAB3GAP1), transcript variant 1, mRNA.	806						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TTCTTCAGTTAAGAAGATCATAA	0.315													29	75	---	---	---	---						-	135920346	AAG	-	135920344	7	5	269	1	0	1	0	1	0	0	0	0	12935	363	13	0	2495	0	RAB3GAP1	2	135920344	In_Frame_Del	DEL	AAG	TCGA-HW-A5KJ-01A-12D-A27K-08	107370187	135920344	107279029	7	11639											
SCN2A	6326	broad.mit.edu	37	chr2	166245292	166245292	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgatgatgtcccttcctgCgttgtttaacatcggcctcc	5	16	8	12	2	0	2	0	2	0	0	4	2	3	2	4	1	2	2	4	1	1	5			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr2:166245292C>A	uc002udc.3	+	26	5266	c.4976C>A	c.(4975-4977)gCg>gAg	p.A1659E	SCN2A_uc002udd.3_Missense_Mutation_p.A1659E|SCN2A_uc002ude.3_Missense_Mutation_p.A1659E|SCN2A_uc021vry.1_Missense_Mutation_p.A159E	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1659					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TCCCTTCCTGCGTTGTTTAAC	0.493													49	97					3.39706e-21	3.68014e-21	1	1	0	A	166245292	C	A	166245292	3	1	269	1	0	0	0	0	1	0	0	0	13916	768	27	5	5174	5	SCN2A	2	166245292	Missense_Mutation	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08	30324948	166245292	76954081	8	11640											
SP3	6670	broad.mit.edu	37	chr2	174774916	174774917	+	Frame_Shift_Del	DEL	AT	AT	-																															ttttattctggtgtgttttaAtatgtttggcaaggtggtca																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr2:174774916_174774917delAT	uc002uig.3	-	6	2629_2630	c.2098_2099delAT	c.(2098-2100)attfs	p.I700fs	SP3_uc002uie.3_Frame_Shift_Del_p.I632fs|SP3_uc002uif.3_Frame_Shift_Del_p.I647fs|SP3_uc010zel.2_Frame_Shift_Del_p.I697fs	NM_003111	NP_003102	Q02447	SP3_HUMAN	Homo sapiens Sp3 transcription factor (SP3), transcript variant 1, mRNA.	700					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			GTGTGTTTTAATATGTTTGGCA	0.376													42	54	---	---	---	---						-	174774917	AT	-	174774916	7	5	269	1	0	1	0	1	0	0	0	0	14965	101	4	0	250	0	SP3	2	174774916	Frame_Shift_Del	DEL	AT	TCGA-HW-A5KJ-01A-12D-A27K-08	8529624	174774916	68424457	9	11641											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								36	46					0	0	1	0	0	T	209113112	C	T	209113112	3	4	269	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08	34338196	209113112	34086261	10	11642											
ZBTB20	26137	broad.mit.edu	37	chr3	114058229	114058231	+	In_Frame_Del	DEL	AGG	AGG	-																															cttgataaggtaatcctttaAggagaaggagcgccaacaga																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr3:114058229_114058231delAGG	uc003ebi.3	-	4	2027_2029	c.1847_1849delCCT	c.(1846-1851)tcctta>tta	p.S616del	ZBTB20_uc003ebj.3_In_Frame_Del_p.S543del|ZBTB20_uc010hqp.3_In_Frame_Del_p.S543del|ZBTB20_uc003ebk.3_In_Frame_Del_p.S543del|ZBTB20_uc003ebl.3_In_Frame_Del_p.S543del|ZBTB20_uc003ebm.3_In_Frame_Del_p.S543del|ZBTB20_uc003ebn.3_In_Frame_Del_p.S543del	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	616					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TAATCCTTTAAGGAGAAGGAGCG	0.507													26	51	---	---	---	---						-	114058231	AGG	-	114058229	7	5	269	1	0	1	0	1	0	0	0	0	17526	69	3	0	380	0	ZBTB20	3	114058229	In_Frame_Del	DEL	AGG	TCGA-HW-A5KJ-01A-12D-A27K-08		114058229	83964201	11	11643											
CCDC96	257236	broad.mit.edu	37	chr4	7044489	7044489	+	Frame_Shift_Del	DEL	T	T	-																															tgctcgtccgcggcggtgccTccctgcgaagccgcttgctc																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr4:7044489delT	uc003gjv.2	-	0	240	c.177delA	c.(175-177)ggafs	p.G59fs	LOC100129931_uc021xld.1_Intron|TADA2B_uc003gjw.4_5'Flank|TADA2B_uc010idi.3_5'Flank	NM_153376	NP_699207	Q2M329	CCD96_HUMAN	Homo sapiens coiled-coil domain containing 96 (CCDC96), mRNA.	59	Glu-rich.									endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						CGGCGGTGCCTCCCTGCGAAG	0.736													2	4	---	---	---	---						-	7044489	T	-	7044489	7	5	269	1	0	1	0	1	0	0	0	0	2874	1538	54	0	1494	0	CCDC96	4	7044489	Frame_Shift_Del	DEL	T	TCGA-HW-A5KJ-01A-12D-A27K-08		7044489	184109787	12	11644											
GALNTL6	442117	broad.mit.edu	37	chr4	173961139	173961141	+	In_Frame_Del	DEL	AGA	AGA	-																															catggattgcaaccccgcagAgaagaagattttcatggcca																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr4:173961139_173961141delAGA	uc003isv.3	+	12	2430_2432	c.1694_1696delAGA	c.(1693-1698)gagaag>gag	p.K567del		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA.	567	Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.K567delK(2)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						AACCCCGCAGAGAAGAAGATTTT	0.424													25	61	---	---	---	---						-	173961141	AGA	-	173961139	7	5	269	1	0	1	0	1	0	0	0	0	6225	304	11	0	1740	0	GALNTL6	4	173961139	In_Frame_Del	DEL	AGA	TCGA-HW-A5KJ-01A-12D-A27K-08	166916650	173961139	17193137	13	11645											
SLC36A1	206358	broad.mit.edu	37	chr5	150867793	150867793	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatgctcccatcttcatcaAttccacctgtgccttcatat	9	14	3	15	0	4	0	3	0	1	0	6	0	6	0	4	0	2	1	4	0	3	4	rs140057648		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr5:150867793A>G	uc003luc.3	+	10	1626	c.1409A>G	c.(1408-1410)aAt>aGt	p.N470S		NM_078483	NP_510968	Q7Z2H8	S36A1_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 1 (SLC36A1), mRNA.	470					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	ATCTTCATCAATTCCACCTGT	0.567													26	43					0	0	1	0	0	G	150867793	A	G	150867793	3	3	269	1	0	0	0	0	1	0	0	0	14593	101	4	3	1447	3	SLC36A1	5	150867793	Missense_Mutation	SNP	A	TCGA-HW-A5KJ-01A-12D-A27K-08		150867793	30047467	14	11646											
SLIT3	6586	broad.mit.edu	37	chr5	168093480	168093480	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggaacacgcgaggcagccGcactctaagtgtctctccac	10	7	10	14	3	2	0	0	0	2	0	4	2	3	1	2	2	2	2	2	2	3	2			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr5:168093480G>A	uc010jjg.3	-	35	4992	c.4572C>T	c.(4570-4572)tgC>tgT	p.C1524C	SLIT3_uc003mab.3_Silent_p.C1517C	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1517					Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus	extracellular space|mitochondrion	Roundabout binding|calcium ion binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGAGGCAGCCGCACTCTAAGT	0.627													11	22					0	0	1	0	0	A	168093480	G	A	168093480	2	1	269	1	0	0	0	0	0	0	0	1	14741	1079	38	1		1	SLIT3	5	168093480	Silent	SNP	G	TCGA-HW-A5KJ-01A-12D-A27K-08	17225687	168093480	12821780	15	11647											
HLA-DRB5	3127	broad.mit.edu	37	chr6	32486344	32486344	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctcctcacctttctgattcTtgaagtagatgaatagcccg	9	13	8	11	1	3	4	1	3	2	1	4	4	4	4	3	0	1	2	3	0	4	5	rs116408738	by1000genomes	TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr6:32486344T>C	uc003obj.3	-	3	757	c.752A>G	c.(751-753)aAg>aGg	p.K251R	HLA-DRB5_uc003obk.4_Missense_Mutation_p.K251R	NM_002125	NP_002116	Q30154	DRB5_HUMAN	Homo sapiens major histocompatibility complex, class II, DR beta 5 (HLA-DRB5), mRNA.	251					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|integral to membrane|late endosome membrane|lysosomal membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						TTTCTGATTCTTGAAGTAGAT	0.517													3	35					0	0	1	0	0	C	32486344	T	C	32486344	3	2	269	1	0	0	0	0	1	0	0	0	7209	1609	56	4	60	4	HLA-DRB5	6	32486344	Missense_Mutation	SNP	T	TCGA-HW-A5KJ-01A-12D-A27K-08		32486344	138628723	16	11648											
EPB41L2	2037	broad.mit.edu	37	chr6	131277495	131277497	+	In_Frame_Del	DEL	TCC	TCC	-																															gaggtggctgggaaccttttTcctcctctggatcggaagac																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr6:131277495_131277497delTCC	uc003qch.2	-	1	311_313	c.129_131delGGA	c.(127-132)gaggaa>gaa	p.43_44EE>E	EPB41L2_uc010kfl.2_In_Frame_Del_p.43_44EE>E|EPB41L2_uc003qcg.1_In_Frame_Del_p.43_44EE>E|EPB41L2_uc003qci.3_In_Frame_Del_p.43_44EE>E|EPB41L2_uc011eby.2_In_Frame_Del_p.43_44EE>E|EPB41L2_uc010kfk.2_In_Frame_Del_p.43_44EE>E	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	43					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GGAACCTTTTTCCTCCTCTGGAT	0.483													36	85	---	---	---	---						-	131277497	TCC	-	131277495	7	5	269	1	0	1	0	1	0	0	0	0	5153	1783	62	0	2958	0	EPB41L2	6	131277495	In_Frame_Del	DEL	TCC	TCGA-HW-A5KJ-01A-12D-A27K-08	98791151	131277495	39837572	17	11649											
PCLO	27445	broad.mit.edu	37	chr7	82784381	82784381	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagatgggggttttgttgAgccaggctgttgaggtgagg	6	13	19	3	0	0	4	0	4	0	1	0	5	0	4	1	5	1	4	1	5	0	5			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr7:82784381A>G	uc003uhx.2	-	1	1865	c.1576T>C	c.(1576-1578)Tca>Cca	p.S526P	PCLO_uc003uhv.2_Missense_Mutation_p.S526P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	472	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTTTTGTTGAGCCAGGCTGT	0.567													8	503					0	0	1	0	0	G	82784381	A	G	82784381	3	3	269	1	0	0	0	0	1	0	0	0	11583	304	11	4	13965	4	PCLO	7	82784381	Missense_Mutation	SNP	A	TCGA-HW-A5KJ-01A-12D-A27K-08		82784381	76354282	18	11650											
MLL5	55904	broad.mit.edu	37	chr7	104717788	104717789	+	Frame_Shift_Del	DEL	AA	AA	-																															aagaaaattcttaaatctgcAaaagatttgcctcctgatgc																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr7:104717788_104717789delAA	uc003vcm.3	+	10	1572_1573	c.1038_1039delAA	c.(1036-1041)gcaaaafs	p.A346fs	MLL5_uc010lja.1_Frame_Shift_Del_p.A200fs|MLL5_uc010ljb.1_Frame_Shift_Del_p.A346fs|MLL5_uc003vcl.3_Frame_Shift_Del_p.A346fs|MLL5_uc010ljc.3_Frame_Shift_Del_p.A346fs|MLL5_uc003vco.1_Non-coding_Transcript|MLL5_uc010ljd.1_5'UTR	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	346	SET.				DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						TTAAATCTGCAAAAGATTTGCC	0.292													41	38	---	---	---	---						-	104717789	AA	-	104717788	7	5	269	1	0	1	0	1	0	0	0	0	9624	117	5	0	1072	0	MLL5	7	104717788	Frame_Shift_Del	DEL	AA	TCGA-HW-A5KJ-01A-12D-A27K-08	21933407	104717788	54420875	19	11651											
KLHDC10	23008	broad.mit.edu	37	chr7	129761996	129761996	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcaataccagagagtggAcacaactgaaaccaaacaac	19	5	6	11	0	1	2	1	1	1	1	2	4	1	3	2	1	5	0	2	1	6	1			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr7:129761996A>G	uc003vpj.2	+	4	868	c.733A>G	c.(733-735)Aca>Gca	p.T245A	KLHDC10_uc003vpk.2_Missense_Mutation_p.T216A|KLHDC10_uc010lmb.2_Missense_Mutation_p.T142A	NM_014997	NP_055812	Q6PID8	KLD10_HUMAN	Homo sapiens kelch domain containing 10 (KLHDC10), mRNA.	245										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						CAGAGAGTGGACACAACTGAA	0.423													62	49					0	0	1	0	0	G	129761996	A	G	129761996	3	3	269	1	0	0	0	0	1	0	0	0	8355	275	10	3	751	3	KLHDC10	7	129761996	Missense_Mutation	SNP	A	TCGA-HW-A5KJ-01A-12D-A27K-08	25044208	129761996	29376667	20	11652											
NEFL	4747	broad.mit.edu	37	chr8	24813443	24813443	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgcctcgtcggcgcctttgCgcgcttccatcagccggccc	2	8	11	20	7	1	0	1	0	0	0	4	0	2	0	6	2	2	1	6	2	0	2			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr8:24813443C>T	uc003xee.3	-	0	689	c.587G>A	c.(586-588)cGc>cAc	p.R196H		NM_006158	NP_006149	P07196	NFL_HUMAN	Homo sapiens neurofilament, light polypeptide (NEFL), mRNA.	196	Coil 1B.|Rod.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GGCGCCTTTGCGCGCTTCCAT	0.647													3	36					0	0	1	0	0	T	24813443	C	T	24813443	3	4	269	1	0	0	0	0	1	0	0	0	10315	768	27	1	1061	1	NEFL	8	24813443	Missense_Mutation	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08		24813443	121550579	21	11653											
FAM91A1	157769	broad.mit.edu	37	chr8	124789562	124789563	+	Splice_Site	DEL	TG	TG	-																															ccaattttactgctgctgacTgtaagtatttaattgtgctg																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr8:124789562_124789563delTG	uc003yqv.3	+	4	428	c.367_splice	c.e4+1	p.C123_splice	FAM91A1_uc011lik.1_Splice_Site_p.C123_splice|FAM91A1_uc011lil.2_Splice_Site	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	Homo sapiens family with sequence similarity 91, member A1 (FAM91A1), mRNA.	123										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TGCTGCTGACTGTAAGTATTTA	0.302													17	53	---	---	---	---						-	124789563	TG	-	124789562	8	5	269	1	0	1	0	1	0	0	1	0	5651	1594	55	0	381	0	FAM91A1	8	124789562	Splice_Site	DEL	TG	TCGA-HW-A5KJ-01A-12D-A27K-08	99976119	124789562	21574460	22	11654											
RUSC2	9853	broad.mit.edu	37	chr9	35560631	35560633	+	In_Frame_Del	DEL	GAG	GAG	-																															ctgaggcctgccctgcctctGaggaggccctgggccgggaa																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr9:35560631_35560633delGAG	uc003zww.3	+	9	4249_4251	c.3994_3996delGAG	c.(3994-3996)gagdel	p.E1333del	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_In_Frame_Del_p.E1333del	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	1333						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CCCTGCCTCTGAGGAGGCCCTGG	0.7													10	15	---	---	---	---						-	35560633	GAG	-	35560631	7	5	269	1	0	1	0	1	0	0	0	0	13751	1291	45	0	4028	0	RUSC2	9	35560631	In_Frame_Del	DEL	GAG	TCGA-HW-A5KJ-01A-12D-A27K-08		35560631	105652800	23	11655											
C9orf100	84904	broad.mit.edu	37	chr9	35663036	35663037	+	Frame_Shift_Del	DEL	CT	CT	-																															tttctgaccaatagtatggaCtctctgggcagtctcactta																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr9:35663036_35663037delCT	uc003zxm.1	-	5	691_692	c.579_580delAG	c.(577-582)agagtcfs	p.R193fs	C9orf100_uc003zxl.3_Non-coding_Transcript	NM_032818	NP_116207	Q8N4T4	CI100_HUMAN	Homo sapiens chromosome 9 open reading frame 100 (C9orf100), mRNA.	193	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(1)	2	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATAGTATGGACTCTCTGGGCAG	0.53													51	71	---	---	---	---						-	35663037	CT	-	35663036	7	5	269	1	0	1	0	1	0	0	0	0	2444	565	20	0	443	0	C9orf100	9	35663036	Frame_Shift_Del	DEL	CT	TCGA-HW-A5KJ-01A-12D-A27K-08	102405	35663036	105550395	24	11656											
NOTCH1	4851	broad.mit.edu	37	chr9	139397632	139397635	+	Splice_Site	DEL	ACTC	ACTC	-																															cccgggatggggccacacttActctgcacggcctcgatctt																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr9:139397632_139397635delACTC	uc004chz.3	-	27	5167	c.5167_splice	c.e27+1	p.S1723_splice	NOTCH1_uc004cia.1_Frame_Shift_Del_p.Q952fs	NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	1723					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.?(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCCACACTTACTCTGCACGGCCT	0.662			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			19	73	---	---	---	---						-	139397635	ACTC	-	139397632	8	5	269	1	0	1	0	1	0	0	1	0	10547	405	14	0	2530	0	NOTCH1	9	139397632	Splice_Site	DEL	ACTC	TCGA-HW-A5KJ-01A-12D-A27K-08	103734596	139397632	1815799	25	11657											
NOTCH1	4851	broad.mit.edu	37	chr9	139413073	139413075	+	In_Frame_Del	DEL	AGG	AGG	-																															atggggacactcgcagtagaAggaggccacacggtcatggc																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr9:139413073_139413075delAGG	uc004chz.3	-	5	1067_1069	c.1067_1069delCCT	c.(1066-1071)tccttc>ttc	p.S356del		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	356	EGF-like 9; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.S356del(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCGCAGTAGAAGGAGGCCACACG	0.65			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			24	25	---	---	---	---						-	139413075	AGG	-	139413073	7	5	269	1	0	1	0	1	0	0	0	0	10547	72	3	0	6714	0	NOTCH1	9	139413073	In_Frame_Del	DEL	AGG	TCGA-HW-A5KJ-01A-12D-A27K-08	15441	139413073	1800358	26	11658											
SLIT1	6585	broad.mit.edu	37	chr10	98797514	98797514	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcgtgaactggttcccGtccaaatagctgcagagaga	12	7	11	11	2	0	3	0	1	0	2	2	4	2	3	3	1	4	3	3	1	3	2	rs141130521	byFrequency	TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr10:98797514G>A	uc001kmw.2	-	21	2559	c.2307C>T	c.(2305-2307)gaC>gaT	p.D769D	SLIT1_uc009xvh.1_Silent_p.D779D	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	769					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		ACTGGTTCCCGTCCAAATAGC	0.597											OREG0020406	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	26					0	0	1	0	0	A	98797514	G	A	98797514	2	1	269	1	0	0	0	0	0	0	0	1	14739	1136	40	1		1	SLIT1	10	98797514	Silent	SNP	G	TCGA-HW-A5KJ-01A-12D-A27K-08		98797514	36737233	27	11659											
MS4A12	54860	broad.mit.edu	37	chr11	60268575	60268575	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggaattgttttgtgtttaAtatccttctcttttagagaa	9	21	7	4	0	1	1	0	0	1	1	3	3	2	2	1	1	0	2	1	1	5	10			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr11:60268575A>G	uc001npr.3	+	2	391	c.334A>G	c.(334-336)Ata>Gta	p.I112V	MS4A12_uc021qkb.1_Intron	NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 12 (MS4A12), transcript variant 1, mRNA.	112						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						TTTGTGTTTAATATCCTTCTC	0.373													9	165					0	0	1	0	0	G	60268575	A	G	60268575	3	3	269	1	0	0	0	0	1	0	0	0	9856	101	4	3	340	3	MS4A12	11	60268575	Missense_Mutation	SNP	A	TCGA-HW-A5KJ-01A-12D-A27K-08		60268575	74737941	28	11660											
CCDC88B	283234	broad.mit.edu	37	chr11	64111866	64111866	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaaaattcaggccccgcAgttgctgggaggagagacag	12	5	14	10	1	1	1	1	0	0	1	1	5	1	3	3	3	1	3	3	3	2	2	rs142814776		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr11:64111866A>C	uc001nzy.3	+	13	1902	c.1853A>C	c.(1852-1854)cAg>cCg	p.Q618P	CCDC88B_uc009ypo.2_Missense_Mutation_p.Q615P|CCDC88B_uc001nzz.1_Missense_Mutation_p.Q267P	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	618					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGGCCCCGCAGTTGCTGGGA	0.647													16	42					0	0	1	0	0	C	64111866	A	C	64111866	3	2	269	1	0	0	0	0	1	0	0	0	2864	188	7	5	1907	5	CCDC88B	11	64111866	Missense_Mutation	SNP	A	TCGA-HW-A5KJ-01A-12D-A27K-08	3843291	64111866	70894650	29	11661											
RCE1	9986	broad.mit.edu	37	chr11	66610961	66610961	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggatgggctgcgactgcTgtcggtgtcgcggccggagc	3	7	20	11	6	0	0	0	0	0	0	2	3	0	2	1	6	3	2	1	6	0	0			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr11:66610961T>C	uc001ojk.1	+	0	79	c.35T>C	c.(34-36)cTg>cCg	p.L12P	C11orf80_uc021qmd.1_3'UTR|C11orf80_uc010rpl.2_3'UTR|C11orf80_uc001ojj.3_3'UTR|RCE1_uc001ojl.1_5'UTR	NM_005133	NP_001027450	Q9Y256	FACE2_HUMAN	Homo sapiens RCE1 homolog, prenyl protein protease (S. cerevisiae) (RCE1), transcript variant 1, mRNA.	12					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CTGCGACTGCTGTCGGTGTCG	0.756													3	1					0	0	1	0	0	C	66610961	T	C	66610961	3	2	269	1	0	0	0	0	1	0	0	0	13176	1580	55	4	37	4	RCE1	11	66610961	Missense_Mutation	SNP	T	TCGA-HW-A5KJ-01A-12D-A27K-08	2499095	66610961	68395555	30	11662											
FAM181B	220382	broad.mit.edu	37	chr11	82444076	82444078	+	In_Frame_Del	DEL	GAA	GAA	-																															cctgcccgggacggctccgtGaagaaggacggaggcagatt																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr11:82444076_82444078delGAA	uc001ozp.3	-	0	829_831	c.694_696delTTC	c.(694-696)ttcdel	p.F232del		NM_175885	NP_787081	A6NEQ2	F181B_HUMAN	Homo sapiens family with sequence similarity 181, member B (FAM181B), mRNA.	232	Gly-rich.									large_intestine(1)|lung(2)|prostate(1)	4						ACGGCTCCGTGAAGAAGGACGGA	0.754													8	10	---	---	---	---						-	82444078	GAA	-	82444076	7	5	269	1	0	1	0	1	0	0	0	0	5509	1281	45	0	588	0	FAM181B	11	82444076	In_Frame_Del	DEL	GAA	TCGA-HW-A5KJ-01A-12D-A27K-08	15833115	82444076	52562440	31	11663											
C11orf82	220042	broad.mit.edu	37	chr11	82643883	82643883	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttttcaactgtaaaggAaatctaagtcctagtgttga	12	15	7	7	0	2	1	1	1	1	0	4	2	4	2	2	1	1	2	2	1	6	7			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr11:82643883A>T	uc001ozt.3	+	5	1747	c.1503A>T	c.(1501-1503)ggA>ggT	p.G501G	C11orf82_uc010rsr.2_Silent_p.G200G|C11orf82_uc010rss.2_Silent_p.G200G|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	501					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ACTGTAAAGGAAATCTAAGTC	0.368													17	23					0	0	1	0	0	T	82643883	A	T	82643883	2	4	269	1	0	0	0	0	0	0	0	1	1665	233	9	5		5	C11orf82	11	82643883	Silent	SNP	A	TCGA-HW-A5KJ-01A-12D-A27K-08	199807	82643883	52362633	32	11664											
CLEC9A	283420	broad.mit.edu	37	chr12	10205309	10205321	+	Frame_Shift_Del	DEL	CCTCTCTTCAGTG	CCTCTCTTCAGTG	-																															gcacgaggaagaaatatacaCctctcttcagtgggatagcc																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr12:10205309_10205321delCCTCTCTTCAGTG	uc001qxa.3	+	3	636_648	c.23_35delCCTCTCTTCAGTG	c.(22-36)acctctcttcagtggfs	p.T8fs		NM_207345	NP_997228	Q6UXN8	CLC9A_HUMAN	Homo sapiens C-type lectin domain family 9, member A (CLEC9A), mRNA.	8					positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						GAAATATACACCTCTCTTCAGTGGGATAGCCCA	0.441													11	54	---	---	---	---						-	10205321	CCTCTCTTCAGTG	-	10205309	7	5	269	1	0	1	0	1	0	0	0	0	3522	507	18	0	25	0	CLEC9A	12	10205309	Frame_Shift_Del	DEL	CCTCTCTTCAGTG	TCGA-HW-A5KJ-01A-12D-A27K-08		10205309	123646586	33	11665											
IRAK4	51135	broad.mit.edu	37	chr12	44180218	44180218	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagctagatattaaagaagAaattgaagatgaagaaaaga	24	7	9	1	0	0	8	0	2	0	6	0	8	0	8	0	0	1	1	0	0	11	4			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr12:44180218A>C	uc001rnu.3	+	11	1335	c.1205A>C	c.(1204-1206)gAa>gCa	p.E402A	IRAK4_uc001rnt.3_Missense_Mutation_p.E402A|IRAK4_uc001rnx.3_Missense_Mutation_p.E278A|IRAK4_uc001rny.3_Missense_Mutation_p.E278A|IRAK4_uc010sky.1_Missense_Mutation_p.E278A|IRAK4_uc001rnv.3_Missense_Mutation_p.E278A|IRAK4_uc001rnw.3_Missense_Mutation_p.E278A	NM_001114182	NP_001138730	Q9NWZ3	IRAK4_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 4 (IRAK4), transcript variant 1, mRNA.	402	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		ATTAAAGAAGAAATTGAAGAT	0.249													3	47					0	0	1	0	0	C	44180218	A	C	44180218	3	2	269	1	0	0	0	0	1	0	0	0	7825	246	9	5	1243	5	IRAK4	12	44180218	Missense_Mutation	SNP	A	TCGA-HW-A5KJ-01A-12D-A27K-08	33974909	44180218	89671677	34	11666											
RASSF9	9182	broad.mit.edu	37	chr12	86199470	86199470	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaaattgcatattgggctgCtcatctccccacgctttcca	9	12	6	14	1	2	0	1	0	1	0	4	0	3	0	3	1	2	4	3	1	2	4			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr12:86199470C>T	uc001taf.1	-	1	657	c.318G>A	c.(316-318)gaG>gaA	p.E106E		NM_005447	NP_005438	O75901	RASF9_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA.	106	Ras-associating.				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	p.E106*(1)		endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TATTGGGCTGCTCATCTCCCC	0.448													13	123					0	0	1	0	0	T	86199470	C	T	86199470	2	4	269	1	0	0	0	0	0	0	0	1	13093	796	28	3		3	RASSF9	12	86199470	Silent	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08	42019252	86199470	47652425	35	11667											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100478361	100478361	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacgttgcactcaaattcaTgcaataactcattggcccat	13	11	5	12	1	3	0	3	0	0	0	3	0	3	0	1	1	4	3	1	1	4	4			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr12:100478361T>C	uc001tgq.3	-	9	1410	c.1181A>G	c.(1180-1182)cAt>cGt	p.H394R	UHRF1BP1L_uc001tgr.3_Missense_Mutation_p.H394R|UHRF1BP1L_uc001tgp.3_Missense_Mutation_p.H44R	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	394										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CTCAAATTCATGCAATAACTC	0.393													29	56					0	0	1	0	0	C	100478361	T	C	100478361	3	2	269	1	0	0	0	0	1	0	0	0	16966	1464	51	3	3285	3	UHRF1BP1L	12	100478361	Missense_Mutation	SNP	T	TCGA-HW-A5KJ-01A-12D-A27K-08	14278891	100478361	33373534	36	11668											
ALDH1L2	160428	broad.mit.edu	37	chr12	105464505	105464507	+	In_Frame_Del	DEL	CTT	CTT	-																															ggatctgtaggcttctgccaCttctttgatggtcttgccct																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr12:105464505_105464507delCTT	uc001tlc.3	-	2	396_398	c.269_271delAAG	c.(268-273)gaagtg>gtg	p.E90del	ALDH1L2_uc009zup.3_Non-coding_Transcript	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L2 (ALDH1L2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	90	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GCTTCTGCCACTTCTTTGATGGT	0.463													20	86	---	---	---	---						-	105464507	CTT	-	105464505	7	5	269	1	0	1	0	1	0	0	0	0	495	565	20	0	2584	0	ALDH1L2	12	105464505	In_Frame_Del	DEL	CTT	TCGA-HW-A5KJ-01A-12D-A27K-08	4986144	105464505	28387390	37	11669											
BRMS1L	84312	broad.mit.edu	37	chr14	36295747	36295749	+	In_Frame_Del	DEL	AAG	AAG	-																															cagtccattcccgaggggatAagaaggagaccaaccatcac																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr14:36295747_36295749delAAG	uc001wtl.3	+	0	151_153	c.25_27delAAG	c.(25-27)aagdel	p.K10del	BRMS1L_uc010tpx.1_5'UTR	NM_032352	NP_115728	Q5PSV4	BRM1L_HUMAN	Homo sapiens breast cancer metastasis-suppressor 1-like (BRMS1L), mRNA.	10					regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		CCGAGGGGATAAGAAGGAGACCA	0.631													11	9	---	---	---	---						-	36295749	AAG	-	36295747	7	5	269	1	0	1	0	1	0	0	0	0	1517	363	13	0	27	0	BRMS1L	14	36295747	In_Frame_Del	DEL	AAG	TCGA-HW-A5KJ-01A-12D-A27K-08		36295747	71053793	38	11670											
BAHD1	22893	broad.mit.edu	37	chr15	40751367	40751367	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatgcagaagtagatgggcGctccactgagcccccagcac	10	5	11	15	1	0	3	0	1	0	2	1	3	1	3	4	1	3	4	4	1	2	1	rs150307966		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr15:40751367G>A	uc001zlu.2	+	1	775	c.704G>A	c.(703-705)cGc>cAc	p.R235H	BAHD1_uc001zlt.2_Missense_Mutation_p.R235H|BAHD1_uc010bbp.1_Missense_Mutation_p.R235H|BAHD1_uc001zlv.2_Missense_Mutation_p.R235H	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	235					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	DNA binding|chromatin binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GTAGATGGGCGCTCCACTGAG	0.627													27	38					0	0	1	0	0	A	40751367	G	A	40751367	3	1	269	1	0	0	0	0	1	0	0	0	1297	1087	38	1	706	1	BAHD1	15	40751367	Missense_Mutation	SNP	G	TCGA-HW-A5KJ-01A-12D-A27K-08		40751367	61780025	39	11671											
CA5A	763	broad.mit.edu	37	chr16	87938397	87938397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccacgtctacaaacctctgCggggtacgcgtggccgtcca	7	7	12	15	5	2	0	0	0	2	0	3	0	3	0	4	3	4	1	4	3	3	2			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr16:87938397C>T	uc002fkn.1	-	2	510	c.454G>A	c.(454-456)Gca>Aca	p.A152T		NM_001739	NP_001730	P35218	CAH5A_HUMAN	Homo sapiens carbonic anhydrase VA, mitochondrial (CA5A), nuclear gene encoding mitochondrial protein, mRNA.	152					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)		CAAACCTCTGCGGGGTACGCG	0.577													43	101					0	0	1	0	0	T	87938397	C	T	87938397	3	4	269	1	0	0	0	0	1	0	0	0	2519	768	27	1	483	1	CA5A	16	87938397	Missense_Mutation	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08		87938397	2416356	40	11672											
KSR1	8844	broad.mit.edu	37	chr17	25932772	25932772	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaactaccggcagacgCggcatgagaacgtggtgctc	10	7	14	10	4	0	4	0	3	0	2	1	5	0	4	1	3	4	3	1	3	3	1			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr17:25932772C>T	uc010crg.3	+	14	2024	c.1579C>T	c.(1579-1581)Cgg>Tgg	p.R527W	KSR1_uc002gzj.1_Non-coding_Transcript|KSR1_uc002gzm.3_Missense_Mutation_p.R307W	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA.	663					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.P527L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CCGGCAGACGCGGCATGAGAA	0.597													19	26					0	0	1	0	0	T	25932772	C	T	25932772	3	4	269	1	0	0	0	0	1	0	0	0	8581	759	27	1	1628	1	KSR1	17	25932772	Missense_Mutation	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08		25932772	55262438	41	11673											
PIGW	284098	broad.mit.edu	37	chr17	34893506	34893508	+	In_Frame_Del	DEL	AGG	AGG	-																															caatggtttgtctagaggtcAggaggagaaaatatatggaa																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr17:34893506_34893508delAGG	uc002hmy.1	+	1	599_601	c.556_558delAGG	c.(556-558)aggdel	p.R188del	MYO19_uc010cuu.3_5'Flank|MYO19_uc010wcy.2_5'Flank|MYO19_uc002hmw.3_5'Flank|MYO19_uc010wcz.1_5'Flank|MYO19_uc010wda.1_5'Flank|MYO19_uc002hmx.2_5'Flank|PIGW_uc002hmz.1_In_Frame_Del_p.R188del|PIGW_uc021tvq.1_In_Frame_Del_p.R188del	NM_178517	NP_848612	Q7Z7B1	PIGW_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class W (PIGW), mRNA.	188					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCTAGAGGTCAGGAGGAGAAAAT	0.424													50	141	---	---	---	---						-	34893508	AGG	-	34893506	7	5	269	1	0	1	0	1	0	0	0	0	11902	179	7	0	558	0	PIGW	17	34893506	In_Frame_Del	DEL	AGG	TCGA-HW-A5KJ-01A-12D-A27K-08	8960734	34893506	46301704	42	11674											
ADAM11	4185	broad.mit.edu	37	chr17	42855353	42855353	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagggaagtgcatctgtcagCcagactggacaggcaaagac	14	5	13	9	0	2	2	1	0	1	2	2	4	2	4	1	3	2	2	1	3	3	0			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr17:42855353C>A	uc002ihh.3	+	23	2104	c.2104C>A	c.(2104-2106)Cca>Aca	p.P702T	ADAM11_uc010wjd.2_Missense_Mutation_p.P502T|ADAM11_uc002ihi.3_Missense_Mutation_p.S54R	NM_002390	NP_002381	O75078	ADA11_HUMAN	Homo sapiens ADAM metallopeptidase domain 11 (ADAM11), mRNA.	702	EGF-like.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CATCTGTCAGCCAGACTGGAC	0.612													5	287					0.0215528	0.0215528	1	1	0	A	42855353	C	A	42855353	3	1	269	1	0	0	0	0	1	0	0	0	235	739	26	5	2198	5	ADAM11	17	42855353	Missense_Mutation	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08	7961847	42855353	38339857	43	11675											
UNC13A	23025	broad.mit.edu	37	chr19	17752258	17752258	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcaaactcgtccacaatCtcctgggctgtctcatcgta	9	11	8	13	2	2	0	1	0	2	0	7	0	3	0	2	2	1	3	2	2	3	1			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr19:17752258C>A	uc021uqk.1	-	20	2619	c.2577G>T	c.(2575-2577)gaG>gaT	p.E859D		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	860					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CGTCCACAATCTCCTGGGCTG	0.567													30	49					5.77227e-19	6.12568e-19	1	1	0	A	17752258	C	A	17752258	3	1	269	1	0	0	0	0	1	0	0	0	16981	912	32	5	2623	5	UNC13A	19	17752258	Missense_Mutation	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08		17752258	41376725	44	11676											
ZNF614	80110	broad.mit.edu	37	chr19	52519785	52519785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgtacaacaagatagcGcttcatggtgaagccttttc	11	12	9	9	1	1	3	1	2	0	1	2	3	1	3	1	1	4	2	1	1	5	5			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr19:52519785G>A	uc002pyj.3	-	4	1468	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C	ZNF614_uc002pyi.4_Intron|ZNF614_uc010epj.3_Missense_Mutation_p.R59C	NM_025040	NP_079316	Q8N883	ZN614_HUMAN	Homo sapiens zinc finger protein 614 (ZNF614), mRNA.	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ACAAGATAGCGCTTCATGGTG	0.428													11	68					0	0	1	0	0	A	52519785	G	A	52519785	3	1	269	1	0	0	0	0	1	0	0	0	18036	1087	38	1	695	1	ZNF614	19	52519785	Missense_Mutation	SNP	G	TCGA-HW-A5KJ-01A-12D-A27K-08	34767527	52519785	6609198	45	11677											
MAVS	57506	broad.mit.edu	37	chr20	3841977	3841977	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcactacatctttgtcctctAgggacctcggaccgtccccc	6	11	7	17	2	3	0	1	0	2	0	6	2	5	2	5	2	1	0	5	2	2	3			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr20:3841977A>G	uc002wjw.4	+	4	465	c.293_splice	c.e4-2	p.R98_splice	MAVS_uc002wjx.4_Splice_Site|MAVS_uc002wjy.4_Intron	NM_020746	NP_001193420	Q7Z434	MAVS_HUMAN	Homo sapiens mitochondrial antiviral signaling protein (MAVS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	98					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of IP-10 production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TTTGTCCTCTAGGGACCTCGG	0.602													48	86					0	0	1	0	0	G	3841977	A	G	3841977	5	3	269	1	0	0	0	0	0	0	1	0	9338	434	15	4	301	4	MAVS	20	3841977	Splice_Site	SNP	A	TCGA-HW-A5KJ-01A-12D-A27K-08		3841977	59183543	46	11678											
CTCFL	140690	broad.mit.edu	37	chr20	56078504	56078504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagtaccgtctccgttcgCggcttccttccatcccttcg	4	13	7	17	5	2	0	1	0	1	0	8	0	5	0	5	1	1	3	5	1	1	5	rs142170954	byFrequency	TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr20:56078504C>T	uc010giw.1	-	9	1939	c.1828G>A	c.(1828-1830)Gcg>Acg	p.A610T	CTCFL_uc010gix.1_Missense_Mutation_p.A610T|CTCFL_uc002xym.2_Missense_Mutation_p.A610T|CTCFL_uc010gjb.1_Missense_Mutation_p.A610T|CTCFL_uc010gja.1_Missense_Mutation_p.A560T|CTCFL_uc010gjc.1_Missense_Mutation_p.A610T|CTCFL_uc010gjd.1_Missense_Mutation_p.A610T|CTCFL_uc010gje.3_Missense_Mutation_p.A610T|CTCFL_uc010gjg.3_Missense_Mutation_p.A342T|CTCFL_uc010gjf.3_Missense_Mutation_p.A405T|CTCFL_uc010giu.3_Non-coding_Transcript|CTCFL_uc010giv.3_Non-coding_Transcript	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein)-like (CTCFL), mRNA.	610					DNA methylation involved in gamete generation|cell cycle|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TCTCCGTTCGCGGCTTCCTTC	0.502													4	151					0	0	1	0	0	T	56078504	C	T	56078504	3	4	269	1	0	0	0	0	1	0	0	0	4001	768	27	1	171	1	CTCFL	20	56078504	Missense_Mutation	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08	52236527	56078504	6947016	47	11679											
ADAMTS1	9510	broad.mit.edu	37	chr21	28210518	28210518	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaagctgccattgttccTggatcccctctggttccgct	7	12	9	13	1	1	1	0	0	1	1	4	2	4	2	5	2	2	4	5	2	2	3			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr21:28210518T>A	uc002ymf.3	-	8	2739	c.2284A>T	c.(2284-2286)Agg>Tgg	p.R762W		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 1 (ADAMTS1), mRNA.	762	Spacer.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CCATTGTTCCTGGATCCCCTC	0.448													22	27					0	0	1	0	0	A	28210518	T	A	28210518	3	1	269	1	0	0	0	0	1	0	0	0	255	1579	55	5	623	5	ADAMTS1	21	28210518	Missense_Mutation	SNP	T	TCGA-HW-A5KJ-01A-12D-A27K-08		28210518	19919377	48	11680											
ERG	2078	broad.mit.edu	37	chr21	39774503	39774503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctagcatgcattaaccGtggagagttttgtaaggctt	9	15	11	6	1	1	1	0	0	1	1	1	2	1	1	1	2	3	6	1	2	3	7			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr21:39774503G>A	uc010gnw.3	-	6	965	c.670C>T	c.(670-672)Cgg>Tgg	p.R224W	ERG_uc021wjd.1_Missense_Mutation_p.R224W|ERG_uc002yxa.3_Missense_Mutation_p.R217W|ERG_uc011aek.2_Missense_Mutation_p.R125W|ERG_uc010gnv.3_Missense_Mutation_p.R125W|ERG_uc010gnx.3_Missense_Mutation_p.R224W|ERG_uc011ael.2_Missense_Mutation_p.R224W|ERG_uc002yxb.3_Missense_Mutation_p.R224W|ERG_uc011aem.1_Intron|ERG_uc002yxc.4_Missense_Mutation_p.R224W|ERG_uc010gny.1_Intron	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	224					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				TGCATTAACCGTGGAGAGTTT	0.438			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"								12	36					0	0	1	0	0	A	39774503	G	A	39774503	3	1	269	1	0	0	0	0	1	0	0	0	5222	1144	40	1	814	1	ERG	21	39774503	Missense_Mutation	SNP	G	TCGA-HW-A5KJ-01A-12D-A27K-08	11563985	39774503	8355392	49	11681											
ZNF280A	129025	broad.mit.edu	37	chr22	22869694	22869694	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcacatgatttgcaggctgCgacacgtgagcaggatattg	10	10	13	8	2	1	2	1	2	0	0	1	4	1	3	0	2	3	3	0	2	1	3	rs150360634		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr22:22869694C>T	uc002zwe.3	-	1	514	c.261G>A	c.(259-261)tcG>tcA	p.S87S	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Silent_p.S87S	NM_080740	NP_542778	P59817	Z280A_HUMAN	Homo sapiens zinc finger protein 280A (ZNF280A), mRNA.	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTGCAGGCTGCGACACGTGAG	0.468													59	97					0	0	1	0	0	T	22869694	C	T	22869694	2	4	269	1	0	0	0	0	0	0	0	1	17811	755	27	1		1	ZNF280A	22	22869694	Silent	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08		22869694	28434872	50	11682											
SOX10	6663	broad.mit.edu	37	chr22	38379483	38379483	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttcatgggccgcttgacGtgcggcttgcttttgctggc	2	13	15	11	4	1	1	1	1	0	0	1	1	1	1	1	3	3	5	1	3	0	5			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr22:38379483G>A	uc003aun.1	-	1	587	c.309C>T	c.(307-309)caC>caT	p.H103H	AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Silent_p.H103H|SOX10_uc010gxj.3_Silent_p.H103H|AK098727_uc003aup.3_5'Flank	NM_006941	NP_008872	P56693	SOX10_HUMAN	Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA.	103						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					GCCGCTTGACGTGCGGCTTGC	0.662													3	29					0	0	1	0	0	A	38379483	G	A	38379483	2	1	269	1	0	0	0	0	0	0	0	1	14941	1136	40	1		1	SOX10	22	38379483	Silent	SNP	G	TCGA-HW-A5KJ-01A-12D-A27K-08	15509789	38379483	12925083	51	11683											
PRR5-ARHGAP8	553158	broad.mit.edu	37	chr22	45127647	45127649	+	In_Frame_Del	DEL	CTT	CTT	-																															tcactggcagagacctgggaCttcttcttcagtgacgtgct																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr22:45127647_45127649delCTT	uc003bfd.3	+	4	637_639	c.360_362delCTT	c.(358-363)gacttc>gac	p.F123del	PRR5-ARHGAP8_uc003bew.2_In_Frame_Del_p.F114del|PRR5-ARHGAP8_uc003bex.2_In_Frame_Del_p.F28del|PRR5-ARHGAP8_uc010gzt.1_In_Frame_Del_p.F146del|PRR5-ARHGAP8_uc003bey.1_In_Frame_Del_p.F114del|PRR5-ARHGAP8_uc003bez.1_In_Frame_Del_p.F28del|PRR5-ARHGAP8_uc011aqi.2_Intron|PRR5-ARHGAP8_uc011aqj.2_Intron|PRR5-ARHGAP8_uc003bfb.2_In_Frame_Del_p.F123del|PRR5-ARHGAP8_uc003bfg.1_Intron|PRR5-ARHGAP8_uc003bfh.1_In_Frame_Del_p.F22del	NM_181335	NP_851852			Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA.											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						AGACCTGGGACTTCTTCTTCAGT	0.66													12	102	---	---	---	---						-	45127649	CTT	-	45127647	7	5	269	1	0	1	0	1	0	0	0	0	12601	564	20	0		0	PRR5-ARHGAP8	22	45127647	In_Frame_Del	DEL	CTT	TCGA-HW-A5KJ-01A-12D-A27K-08	6748164	45127647	6176919	52	11684											
BCOR	54880	broad.mit.edu	37	chrX	39934072	39934075	+	Frame_Shift_Del	DEL	TGTT	TGTT	-																															cattgatgttgagagggctcTgtttgtcgctggcaggcctg																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chrX:39934072_39934075delTGTT	uc004den.4	-	3	816_819	c.524_527delAACA	c.(523-528)aaacagfs	p.K175fs	BCOR_uc004dep.4_Frame_Shift_Del_p.K175fs|BCOR_uc004deo.4_Frame_Shift_Del_p.K175fs|BCOR_uc004dem.4_Frame_Shift_Del_p.K175fs|BCOR_uc004deq.4_Frame_Shift_Del_p.K175fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	175					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						GAGAGGGCTCTGTTTGTCGCTGGC	0.539			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						7	80	---	---	---	---						-	39934075	TGTT	-	39934072	7	5	269	1	0	1	0	1	0	0	0	0	1386	1580	55	0	4788	0	BCOR	23	39934072	Frame_Shift_Del	DEL	TGTT	TCGA-HW-A5KJ-01A-12D-A27K-08		39934072	115336488	53	11685											
EXTL1	2134	broad.mit.edu	37	chr1	26360306	26360306	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacactgctgagaggaccaaCgaattctccatggttctcac	11	10	8	12	1	2	1	1	1	2	1	4	4	2	2	2	2	3	2	2	2	3	3	rs137944707	byFrequency	TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr1:26360306C>T	uc001blf.3	+	8	2505	c.1638C>T	c.(1636-1638)aaC>aaT	p.N546N		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	Homo sapiens exostoses (multiple)-like 1 (EXTL1), mRNA.	546					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGGACCAACGAATTCTCCA	0.597													17	78					0	0	1	0	0	T	26360306	C	T	26360306	2	4	270	1	0	0	0	0	0	0	0	1	5325	535	19	1		1	EXTL1	1	26360306	Silent	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08		26360306	222890315	1	11686											
KIAA0754	643314	broad.mit.edu	37	chr1	39876726	39876726	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacctggccgagggccacAaaaagtttagctaagggagg	13	5	14	9	1	0	0	0	0	0	0	0	2	0	1	3	4	2	3	3	4	5	3			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr1:39876726A>G	uc009vvt.1	+	0	1551	c.789A>G	c.(787-789)acA>acG	p.T263T	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	Homo sapiens KIAA0754 (KIAA0754), mRNA.	127										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CGAGGGCCACAAAAAGTTTAG	0.512											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	29					0	0	1	0	0	G	39876726	A	G	39876726	2	3	270	1	0	0	0	0	0	0	0	1	8192	117	5	3		3	KIAA0754	1	39876726	Silent	SNP	A	TCGA-HW-A5KK-01A-11D-A27K-08	13516420	39876726	209373895	2	11687											
C1orf182	128229	broad.mit.edu	37	chr1	156314492	156314492	+	Frame_Shift_Del	DEL	G	G	-																															aacatccagacaacaaagctGccctcgggtaaggatgtagg																										TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr1:156314492delG	uc001foo.3	+	2	516	c.156delG	c.(154-156)ctgfs	p.L52fs	C1orf182_uc009wry.3_Frame_Shift_Del_p.L52fs|C1orf182_uc001fop.4_Frame_Shift_Del_p.L52fs	NM_144627	NP_653228	Q96A04	CA182_HUMAN	Homo sapiens chromosome 1 open reading frame 182 (C1orf182), mRNA.	52										lung(2)|prostate(2)	4	Hepatocellular(266;0.158)					CAACAAAGCTGCCCTCGGGTA	0.512													15	128	---	---	---	---						-	156314492	G	-	156314492	7	5	270	1	0	1	0	1	0	0	0	0	2018	1306	46	0	162	0	C1orf182	1	156314492	Frame_Shift_Del	DEL	G	TCGA-HW-A5KK-01A-11D-A27K-08	116437766	156314492	92936129	3	11688											
CACNA1E	777	broad.mit.edu	37	chr1	181724388	181724388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaggccgtcttcgactgcGtagtgacctccttgaagaat	9	10	10	12	3	1	3	0	2	1	1	3	4	2	3	3	1	1	1	3	1	3	3			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr1:181724388G>A	uc009wxt.3	+	27	4039	c.3844G>A	c.(3844-3846)Gta>Ata	p.V1282I	CACNA1E_uc001gow.3_Missense_Mutation_p.V1282I|CACNA1E_uc009wxs.3_Missense_Mutation_p.V1263I|CACNA1E_uc001gox.1_Missense_Mutation_p.V508I	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1282					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.C1281C(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTTCGACTGCGTAGTGACCTC	0.502													13	62					0	0	1	0	0	A	181724388	G	A	181724388	3	1	270	1	0	0	0	0	1	0	0	0	2542	1145	40	1	3954	1	CACNA1E	1	181724388	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	25409896	181724388	67526233	4	11689											
VAMP5	10791	broad.mit.edu	37	chr2	85818866	85818866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcaggaatagagttggagCggtgccagcagcaggcgaac	12	4	17	8	2	0	1	0	0	0	1	0	4	0	3	1	5	5	4	1	5	3	2			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr2:85818866C>T	uc002spu.1	+	1	105	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_006634	NP_006625	O95183	VAMP5_HUMAN	Homo sapiens vesicle-associated membrane protein 5 (myobrevin) (VAMP5), mRNA.	8	v-SNARE coiled-coil homology.				cell differentiation|vesicle-mediated transport	endomembrane system		p.R8W(2)		NS(1)|large_intestine(3)|lung(1)	5						AGAGTTGGAGCGGTGCCAGCA	0.602													19	98					0	0	1	0	0	T	85818866	C	T	85818866	3	4	270	1	0	0	0	0	1	0	0	0	17113	759	27	1	28	1	VAMP5	2	85818866	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08		85818866	157380507	5	11690											
FAM123C	205147	broad.mit.edu	37	chr2	131521800	131521800	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggccctgacatgctggagCagaaacagtccagcagctcc	10	5	13	13	0	0	2	0	1	0	1	2	3	2	3	3	3	5	4	3	3	1	0			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr2:131521800C>T	uc021voy.1	+	0	2155	c.2155C>T	c.(2155-2157)Cag>Tag	p.Q719*	FAM123C_uc002trw.2_Nonsense_Mutation_p.Q719*|FAM123C_uc010fmv.2_Nonsense_Mutation_p.Q719*|FAM123C_uc010fms.1_Nonsense_Mutation_p.Q719*|FAM123C_uc010fmt.1_Nonsense_Mutation_p.Q719*|FAM123C_uc010fmu.1_Nonsense_Mutation_p.Q719*	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	719										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CATGCTGGAGCAGAAACAGTC	0.632													12	42					0	0	1	0	0	T	131521800	C	T	131521800	4	4	270	1	0	0	0	0	0	1	0	0	5424	711	25	3	2157	3	FAM123C	2	131521800	Nonsense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08	45702934	131521800	111677573	6	11691											
CELSR3	1951	broad.mit.edu	37	chr3	48678778	48678778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcctctggcgctgggcccGgcccagagaagtctcatccc	5	9	11	16	2	2	1	1	0	2	1	5	2	4	1	4	3	0	1	4	3	1	1			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr3:48678778G>A	uc003cuf.1	-	34	9298	c.9298C>T	c.(9298-9300)Cgg>Tgg	p.R3100W	CELSR3_uc010hkf.3_Missense_Mutation_p.R292W|CELSR3_uc010hkg.3_Missense_Mutation_p.R985W|CELSR3_uc003cul.3_Missense_Mutation_p.R3002W	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	3002					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCTGGGCCCGGCCCAGAGAA	0.652													23	110					0	0	1	0	0	A	48678778	G	A	48678778	3	1	270	1	0	0	0	0	1	0	0	0	3223	1115	39	2	946	2	CELSR3	3	48678778	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08		48678778	149343652	7	11692											
COPB2	9276	broad.mit.edu	37	chr3	139085462	139085462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgttcttttggaatggtaGgaaggaccttatcagccatg	9	14	11	7	0	3	0	1	0	2	0	3	3	3	3	2	4	1	2	2	4	4	5			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr3:139085462G>A	uc003etf.4	-	14	1962	c.1832C>T	c.(1831-1833)cCt>cTt	p.P611L	COPB2_uc011bmv.2_Missense_Mutation_p.P582L|COPB2_uc010hui.3_Missense_Mutation_p.P582L	NM_004766	NP_004757	P35606	COPB2_HUMAN	Homo sapiens coatomer protein complex, subunit beta 2 (beta prime) (COPB2), transcript variant 1, mRNA.	611					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TGGAATGGTAGGAAGGACCTT	0.398													9	43					0	0	1	0	0	A	139085462	G	A	139085462	3	1	270	1	0	0	0	0	1	0	0	0	3729	1000	35	3	920	3	COPB2	3	139085462	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	90406684	139085462	58936968	8	11693											
BMPR1B	658	broad.mit.edu	37	chr4	96046194	96046194	+	Frame_Shift_Del	DEL	C	C	-																															ttagaacaggatgaaacttaCattcctcctggagaatccct																										TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr4:96046194delC	uc003htm.4	+	7	781	c.507delC	c.(505-507)tacfs	p.Y169fs	BMPR1B_uc010ilb.3_Frame_Shift_Del_p.Y169fs|BMPR1B_uc003htn.4_Frame_Shift_Del_p.Y169fs	NM_001203	NP_001194	O00238	BMR1B_HUMAN	Homo sapiens bone morphogenetic protein receptor, type IB (BMPR1B), mRNA.	169					BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|SMAD binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		ATGAAACTTACATTCCTCCTG	0.408													15	50	---	---	---	---						-	96046194	C	-	96046194	7	5	270	1	0	1	0	1	0	0	0	0	1470	489	17	0	525	0	BMPR1B	4	96046194	Frame_Shift_Del	DEL	C	TCGA-HW-A5KK-01A-11D-A27K-08		96046194	95108082	9	11694											
ELL2	22936	broad.mit.edu	37	chr5	95233957	95233961	+	Frame_Shift_Del	DEL	TGGAC	TGGAC	-																															aaaatacctccactggaattTggactggagttatttagctt																										TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr5:95233957_95233961delTGGAC	uc003klr.4	-	7	1858_1862	c.1508_1512delGTCCA	c.(1507-1512)agtccafs	p.S503fs		NM_012081	NP_036213	O00472	ELL2_HUMAN	Homo sapiens elongation factor, RNA polymerase II, 2 (ELL2), mRNA.	503					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		CACTGGAATTTGGACTGGAGTTATT	0.346													8	89	---	---	---	---						-	95233961	TGGAC	-	95233957	7	5	270	1	0	1	0	1	0	0	0	0	5063	1799	63	0	430	0	ELL2	5	95233957	Frame_Shift_Del	DEL	TGGAC	TCGA-HW-A5KK-01A-11D-A27K-08		95233957	85681303	10	11695											
ABLIM3	22885	broad.mit.edu	37	chr5	148617131	148617131	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctcattccagatacatgTccgacgagatgctggagaga	12	8	11	10	2	1	3	1	0	0	3	3	7	3	4	3	1	3	1	3	1	1	2			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr5:148617131T>C	uc003lpy.2	+	10	1260	c.1009T>C	c.(1009-1011)Tcc>Ccc	p.S337P	ABLIM3_uc003lpz.1_Missense_Mutation_p.S337P|ABLIM3_uc003lqa.1_Intron|ABLIM3_uc003lqb.3_Intron|ABLIM3_uc003lqc.1_Missense_Mutation_p.S337P|ABLIM3_uc003lqd.1_Intron|ABLIM3_uc003lqe.1_Intron|ABLIM3_uc003lqf.3_Intron	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	337					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGATACATGTCCGACGAGAT	0.522													23	108					0	0	1	0	0	C	148617131	T	C	148617131	3	2	270	1	0	0	0	0	1	0	0	0	96	1667	58	3	1047	3	ABLIM3	5	148617131	Missense_Mutation	SNP	T	TCGA-HW-A5KK-01A-11D-A27K-08	53383174	148617131	32298129	11	11696											
ATP10B	23120	broad.mit.edu	37	chr5	160049524	160049524	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtctgctgtctgacaaGgtctccaaccacagggcagc	9	7	12	13	0	3	1	0	1	3	0	4	1	3	1	2	3	3	3	2	3	2	0			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr5:160049524G>T	uc003lym.1	-	13	2536	c.1689C>A	c.(1687-1689)acC>acA	p.T563T	ATP10B_uc010jit.1_5'Flank|ATP10B_uc003lyn.3_Silent_p.T121T	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	563					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTCTGACAAGGTCTCCAACC	0.488													17	78					1.02788e-11	1.11354e-11	1	1	0	T	160049524	G	T	160049524	2	4	270	1	0	0	0	0	0	0	0	1	1117	987	35	5		5	ATP10B	5	160049524	Silent	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	11432393	160049524	20865736	12	11697											
MAP7	9053	broad.mit.edu	37	chr6	136710581	136710581	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcctccaacctcttctTccgctcttccaggtgcttct	3	15	5	18	1	4	0	0	0	4	0	8	0	8	0	5	1	3	3	5	1	1	4			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr6:136710581T>A	uc011edg.2	-	3	634	c.385A>T	c.(385-387)Aag>Tag	p.K129*	MAP7_uc011edf.2_Nonsense_Mutation_p.K92*|MAP7_uc010kgu.3_Nonsense_Mutation_p.K129*|MAP7_uc011edh.2_Nonsense_Mutation_p.K129*|MAP7_uc010kgv.3_Nonsense_Mutation_p.K129*|MAP7_uc010kgs.3_5'UTR|MAP7_uc011edi.2_5'UTR|MAP7_uc010kgq.2_Intron|MAP7_uc003qgz.3_Nonsense_Mutation_p.K107*|MAP7_uc003qha.2_Nonsense_Mutation_p.K107*|MAP7_uc010kgr.2_Intron|MAP7_uc010kgt.2_Nonsense_Mutation_p.K129*	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN	Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.	107					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		AACCTCTTCTTCCGCTCTTCC	0.542													22	128					0	0	1	0	0	A	136710581	T	A	136710581	4	1	270	1	0	0	0	0	0	1	0	0	9266	1792	62	5	1990	5	MAP7	6	136710581	Nonsense_Mutation	SNP	T	TCGA-HW-A5KK-01A-11D-A27K-08		136710581	34404486	13	11698											
SYNE1	23345	broad.mit.edu	37	chr6	152651648	152651648	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccgcctccccaaggccCgccacctcgtccagaatggc	7	5	8	21	3	0	1	0	0	0	1	4	1	3	1	9	2	0	0	9	2	2	0			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr6:152651648C>T	uc021zhb.1	-	75	14395	c.14172G>A	c.(14170-14172)gcG>gcA	p.A4724A	SYNE1_uc003qot.4_Silent_p.A4653A|SYNE1_uc003qou.4_Silent_p.A4724A|SYNE1_uc010kiz.3_Silent_p.A479A	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	4724					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	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)		CCCCAAGGCCCGCCACCTCGT	0.552										HNSCC(10;0.0054)			10	57					0	0	1	0	0	T	152651648	C	T	152651648	2	4	270	1	0	0	0	0	0	0	0	1	15442	639	23	2		2	SYNE1	6	152651648	Silent	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08	15941067	152651648	18463419	14	11699											
CDK13	8621	broad.mit.edu	37	chr7	40102644	40102644	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatccttggcgaactcttcActaaaaaacctatatttcaa	14	13	4	10	1	3	0	2	0	1	0	4	1	4	0	2	1	2	1	2	1	8	7			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr7:40102644A>G	uc003thh.4	+	8	3007	c.2725A>G	c.(2725-2727)Act>Gct	p.T909A	CDK13_uc003thi.4_Missense_Mutation_p.T909A|CDK13_uc011kbf.2_Missense_Mutation_p.T295A|CDK13_uc003thj.3_5'UTR	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	909	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CGAACTCTTCACTAAAAAACC	0.333													14	66					0	0	1	0	0	G	40102644	A	G	40102644	3	3	270	1	0	0	0	0	1	0	0	0	3129	159	6	3	2759	3	CDK13	7	40102644	Missense_Mutation	SNP	A	TCGA-HW-A5KK-01A-11D-A27K-08		40102644	119036019	15	11700											
POM121L12	285877	broad.mit.edu	37	chr7	53103839	53103839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcccctggacagagagccCgccccgcaggccgccccgcc	6	2	12	21	4	0	1	0	0	0	1	1	4	1	2	9	2	1	1	9	2	0	0			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr7:53103839C>T	uc003tpz.3	+	0	491	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	159								p.R159R(1)|p.R159H(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ACAGAGAgcccgccccgcagg	0.721													10	45					0	0	1	0	0	T	53103839	C	T	53103839	3	4	270	1	0	0	0	0	1	0	0	0	12241	652	23	2	477	2	POM121L12	7	53103839	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08	13001195	53103839	106034824	16	11701											
VDAC3	7419	broad.mit.edu	37	chr8	42259491	42259491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actgtcacagaataatttcgCcctgggttacaaggctgcgg	10	10	11	10	2	1	1	1	0	0	1	2	1	1	1	1	3	2	2	1	3	4	3			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr8:42259491C>T	uc022aul.1	+	5	514	c.512C>T	c.(511-513)gCc>gTc	p.A171V	VDAC3_uc010lxk.3_3'UTR|VDAC3_uc003xpc.3_Missense_Mutation_p.A170V|VDAC3_uc011lct.2_Missense_Mutation_p.A170V	NM_001135694	NP_001129166	Q9Y277	VDAC3_HUMAN	Homo sapiens voltage-dependent anion channel 3 (VDAC3), transcript variant 2, mRNA.	170					adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	AATAATTTCGCCCTGGGTTAC	0.463													8	55					0	0	1	0	0	T	42259491	C	T	42259491	3	4	270	1	0	0	0	0	1	0	0	0	17145	739	26	3	530	3	VDAC3	8	42259491	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08		42259491	104104531	17	11702											
GSDMD	79792	broad.mit.edu	37	chr8	144642132	144642132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacctggcagactctgctcCatgagaggtgggcccgaaga	10	6	13	12	1	1	3	0	1	1	3	2	5	2	3	3	3	1	2	3	3	1	0			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr8:144642132C>T	uc003yyf.3	+	3	590	c.547C>T	c.(547-549)Cat>Tat	p.H183Y	GSDMD_uc010mfe.3_Missense_Mutation_p.H135Y|GSDMD_uc003yyi.3_Missense_Mutation_p.H135Y|GSDMD_uc003yyg.3_Missense_Mutation_p.H135Y|GSDMD_uc003yyh.3_Missense_Mutation_p.H66Y	NM_024736	NP_079012	P57764	GSDMD_HUMAN	Homo sapiens gasdermin D (GSDMD), transcript variant 1, mRNA.	135								p.G182S(1)		breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						GACTCTGCTCCATGAGAGGTG	0.537													8	50					0	0	1	0	0	T	144642132	C	T	144642132	3	4	270	1	0	0	0	0	1	0	0	0	6819	594	21	3	409	3	GSDMD	8	144642132	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08	102382641	144642132	1721890	18	11703											
GSDMD	79792	broad.mit.edu	37	chr8	144645068	144645068	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaggactgagccaggagccCcactagcctgtgcccgggca	8	5	13	15	1	1	1	1	1	0	0	1	3	1	3	5	3	4	1	5	3	1	1			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr8:144645068C>A	uc003yyf.3	+	11	1636	c.1593C>A	c.(1591-1593)ccC>ccA	p.P531P	GSDMD_uc010mfe.3_Silent_p.P483P|GSDMD_uc003yyg.3_Silent_p.P483P|GSDMD_uc003yyh.3_Silent_p.P414P	NM_024736	NP_079012	P57764	GSDMD_HUMAN	Homo sapiens gasdermin D (GSDMD), transcript variant 1, mRNA.	483										breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						GCCAGGAGCCCCACTAGCCTG	0.667													5	29					0.00116845	0.00119919	1	1	0	A	144645068	C	A	144645068	2	1	270	1	0	0	0	0	0	0	0	1	6819	610	22	5		5	GSDMD	8	144645068	Silent	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08	2936	144645068	1718954	19	11704											
SLC24A2	25769	broad.mit.edu	37	chr9	19786146	19786146	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	caatgtagaaagacacatctCgaaagagcggccaccatgtc	15	6	9	11	2	1	3	0	0	1	3	3	4	1	3	2	1	1	1	2	1	4	1			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr9:19786146C>G	uc003zoa.2	-	0	872	c.719G>C	c.(718-720)cGa>cCa	p.R240P	SLC24A2_uc003zob.2_Missense_Mutation_p.R240P	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 (SLC24A2), transcript variant 1, mRNA.	240					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		AGACACATCTCGAAAGAGCGG	0.393													10	82					0	0	1	0	0	G	19786146	C	G	19786146	3	3	270	1	0	0	0	0	1	0	0	0	14466	884	31	5	1306	5	SLC24A2	9	19786146	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08		19786146	121427285	20	11705											
NANOS1	340719	broad.mit.edu	37	chr10	120789635	120789637	+	In_Frame_Del	DEL	GAC	GAC	-																															ggccgcccgactacgacgagGacgacgacgacgacagcgac																										TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr10:120789635_120789637delGAC	uc009xzf.1	+	0	408_410	c.322_324delGAC	c.(322-324)gacdel	p.D112del		NM_199461	NP_955631	Q8WY41	NANO1_HUMAN	Homo sapiens nanos homolog 1 (Drosophila) (NANOS1), mRNA.	112					epithelial cell migration	perinuclear region of cytoplasm	RNA binding|protein binding|translation repressor activity|zinc ion binding			lung(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0193)		ctacgacgaggacgacgacgacg	0.788													2	4	---	---	---	---						-	120789637	GAC	-	120789635	7	5	270	1	0	1	0	1	0	0	0	0	10151	1174	41	0	324	0	NANOS1	10	120789635	In_Frame_Del	DEL	GAC	TCGA-HW-A5KK-01A-11D-A27K-08		120789635	14745112	21	11706											
NAV2	89797	broad.mit.edu	37	chr11	19970369	19970369	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggctccaagcaggagaCgccccctcaatgggcaatgg	9	5	12	15	2	1	1	1	0	0	1	3	2	2	1	4	4	1	3	4	4	3	0			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr11:19970369C>T	uc010rdm.2	+	10	2818	c.2457C>T	c.(2455-2457)gaC>gaT	p.D819D	NAV2_uc001mpp.3_Silent_p.D732D|NAV2_uc001mpr.4_Silent_p.D796D|NAV2_uc021qew.1_Silent_p.D796D	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	819						nucleus	ATP binding|helicase activity	p.D819D(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AAGCAGGAGACGCCCCCTCAA	0.617													11	73					0	0	1	0	0	T	19970369	C	T	19970369	2	4	270	1	0	0	0	0	0	0	0	1	10184	535	19	1		1	NAV2	11	19970369	Silent	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08		19970369	115036147	22	11707											
ADAMTS15	170689	broad.mit.edu	37	chr11	130332501	130332501	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcttttggcgtgggctcCaagccctgtccttacatgca	5	12	11	13	1	0	0	0	0	0	0	2	0	2	0	3	3	3	3	3	3	2	3			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr11:130332501C>T	uc010scd.2	+	3	1368	c.1368C>T	c.(1366-1368)tcC>tcT	p.S456S		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	456	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GCGTGGGCTCCAAGCCCTGTC	0.647													17	121					0	0	1	0	0	T	130332501	C	T	130332501	2	4	270	1	0	0	0	0	0	0	0	1	260	581	21	3		3	ADAMTS15	11	130332501	Silent	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08	110362132	130332501	4674015	23	11708											
PRB3	5544	broad.mit.edu	37	chr12	11420209	11420209	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccctggggctttccagcggGaggtggcagaggctgctggg	4	8	19	10	1	0	1	0	0	0	1	2	2	2	2	2	7	2	4	2	7	0	1			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr12:11420209G>A	uc001qzs.3	-	3	885	c.847C>T	c.(847-849)Ccc>Tcc	p.P283S	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	283	Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTTCCAGCGGGAGGTGGCAGA	0.622													36	208					0	0	1	0	0	A	11420209	G	A	11420209	3	1	270	1	0	0	0	0	1	0	0	0	12444	1174	41	3	86	3	PRB3	12	11420209	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08		11420209	122431686	24	11709											
SPRYD3	84926	broad.mit.edu	37	chr12	53468957	53468957	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtagtactgagggaccAgccccacagcaatggtgccc	10	6	12	13	0	0	1	0	1	0	0	0	2	0	2	4	2	5	4	4	2	3	2			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr12:53468957A>C	uc001sbt.2	-	3	380	c.293T>G	c.(292-294)cTg>cGg	p.L98R	SPRYD3_uc010snw.2_5'UTR	NM_032840	NP_116229	Q8NCJ5	SPRY3_HUMAN	Homo sapiens SPRY domain containing 3 (SPRYD3), mRNA.	98	B30.2/SPRY.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CTGAGGGACCAGCCCCACAGC	0.562													27	167					0	0	1	0	0	C	53468957	A	C	53468957	3	2	270	1	0	0	0	0	1	0	0	0	15108	188	7	5	1067	5	SPRYD3	12	53468957	Missense_Mutation	SNP	A	TCGA-HW-A5KK-01A-11D-A27K-08	42048748	53468957	80382938	25	11710											
MGAT4C	25834	broad.mit.edu	37	chr12	86374059	86374059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctggaccatggcatcacGccaggaagaattaaagtctg	13	8	10	10	1	2	1	1	0	1	1	3	3	3	3	3	3	0	1	3	3	4	1			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr12:86374059G>A	uc010sum.2	-	5	676	c.517C>T	c.(517-519)Cgt>Tgt	p.R173C	MGAT4C_uc001tal.4_Missense_Mutation_p.R149C|MGAT4C_uc001taj.4_Missense_Mutation_p.R149C|MGAT4C_uc001tak.4_Missense_Mutation_p.R149C|MGAT4C_uc001tai.4_Missense_Mutation_p.R149C|MGAT4C_uc001tah.4_Missense_Mutation_p.R149C	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	149					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATGGCATCACGCCAGGAAGAA	0.398													12	72					0	0	1	0	0	A	86374059	G	A	86374059	3	1	270	1	0	0	0	0	1	0	0	0	9547	1087	38	1	995	1	MGAT4C	12	86374059	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	32905102	86374059	47477836	26	11711											
NCOR2	9612	broad.mit.edu	37	chr12	124829298	124829298	+	Frame_Shift_Del	DEL	C	C	-																															gggcgccgcgcgcaatggagCcccccgagctgctggcggtc																										TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr12:124829298delC	uc021rga.1	-	31	4697	c.4580delG	c.(4579-4581)ggcfs	p.G1527fs	NCOR2_uc021rgb.1_Frame_Shift_Del_p.G1511fs|NCOR2_uc010tbb.2_Frame_Shift_Del_p.G1520fs|NCOR2_uc010tbc.2_Frame_Shift_Del_p.G1510fs|NCOR2_uc021rgc.1_Frame_Shift_Del_p.G1510fs|NCOR2_uc010tba.2_Frame_Shift_Del_p.G1528fs	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	1528					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CGCAATGGAGCCCCCCGAGCT	0.706													2	4	---	---	---	---						-	124829298	C	-	124829298	7	5	270	1	0	1	0	1	0	0	0	0	10236	739	26	0	3049	0	NCOR2	12	124829298	Frame_Shift_Del	DEL	C	TCGA-HW-A5KK-01A-11D-A27K-08	38455239	124829298	9022597	27	11712											
SLC13A2	9058	broad.mit.edu	37	chr17	26817446	26817446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agactccagggtcttcccgcCgctcagccatgtctccacct	6	9	8	18	2	3	1	1	0	2	1	6	1	5	1	6	1	1	1	6	1	0	1			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr17:26817446C>T	uc010wan.2	+	2	420	c.353C>T	c.(352-354)cCg>cTg	p.P118L	SLC13A2_uc010wal.1_Intron|SLC13A2_uc010wam.2_Intron|SLC13A2_uc002hbh.3_Intron|SLC13A2_uc010wao.2_Intron|SLC13A2_uc002hbi.3_Intron	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	69						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GTCTTCCCGCCGCTCAGCCAT	0.612													36	194					0	0	1	0	0	T	26817446	C	T	26817446	3	4	270	1	0	0	0	0	1	0	0	0	14392	652	23	2	363	2	SLC13A2	17	26817446	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08		26817446	54377764	28	11713											
LRRC37B	114659	broad.mit.edu	37	chr17	30349672	30349672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatcttcgcaggattcattgGtgcagtctgaaactgcacca	11	11	9	10	1	3	1	1	1	2	0	4	2	3	2	1	2	3	3	1	2	2	3			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr17:30349672G>A	uc002hgu.3	+	0	1518	c.1507G>A	c.(1507-1509)Gtg>Atg	p.V503M	LRRC37B_uc010wbx.2_Missense_Mutation_p.V421M|LRRC37B_uc010csu.3_Missense_Mutation_p.V503M	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	Homo sapiens leucine rich repeat containing 37B (LRRC37B), mRNA.	503						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GGATTCATTGGTGCAGTCTGA	0.507													23	111					0	0	1	0	0	A	30349672	G	A	30349672	3	1	270	1	0	0	0	0	1	0	0	0	8994	1261	44	3	1509	3	LRRC37B	17	30349672	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	3532226	30349672	50845538	29	11714											
ZNF521	25925	broad.mit.edu	37	chr18	22805969	22805969	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgtacttagcaccacatTgattacagatatattctcca	13	14	5	9	0	1	2	0	1	1	1	2	2	1	2	2	0	3	2	2	0	5	7			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr18:22805969T>G	uc002kvk.2	-	3	2160	c.1913A>C	c.(1912-1914)cAa>cCa	p.Q638P	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.Q638P|ZNF521_uc002kvl.2_Missense_Mutation_p.Q418P	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	638					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGCACCACATTGATTACAGAT	0.478			T	PAX5	ALL								23	136					0	0	1	0	0	G	22805969	T	G	22805969	3	3	270	1	0	0	0	0	1	0	0	0	17962	1812	63	5	2042	5	ZNF521	18	22805969	Missense_Mutation	SNP	T	TCGA-HW-A5KK-01A-11D-A27K-08		22805969	55271279	30	11715											
ZNF426	79088	broad.mit.edu	37	chr19	9646905	9646905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgggacaaatcagcagctgCcatcccgcgaggtgagaacg	12	5	13	11	3	1	1	1	1	0	1	2	4	2	2	2	2	4	2	2	2	2	0			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr19:9646905C>T	uc002mlq.3	-	2	268	c.4G>A	c.(4-6)Gca>Aca	p.A2T	ZNF426_uc010dws.3_5'UTR|OR7D2_uc002mlr.3_5'Flank|OR7D2_uc002mls.3_5'Flank	NM_024106	NP_077011	Q9BUY5	ZN426_HUMAN	Homo sapiens zinc finger protein 426 (ZNF426), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TCAGCAGCTGCCATCCCGCGA	0.463													10	66					0	0	1	0	0	T	9646905	C	T	9646905	3	4	270	1	0	0	0	0	1	0	0	0	17897	739	26	3	1684	3	ZNF426	19	9646905	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08		9646905	49482078	31	11716											
EHD2	30846	broad.mit.edu	37	chr19	48229108	48229108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgctggttcgcggagcGcgtggacctcatcatcctgc	4	9	14	14	5	2	0	2	0	0	0	4	2	3	2	2	3	3	3	2	3	0	1			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr19:48229108G>A	uc002phj.4	+	3	792	c.542G>A	c.(541-543)cGc>cAc	p.R181H	EHD2_uc010xyu.2_Missense_Mutation_p.R45H	NM_014601	NP_055416	Q9NZN4	EHD2_HUMAN	Homo sapiens EH-domain containing 2 (EHD2), mRNA.	181					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		TTCGCGGAGCGCGTGGACCTC	0.637													10	43					0	0	1	0	0	A	48229108	G	A	48229108	3	1	270	1	0	0	0	0	1	0	0	0	4978	1087	38	1	552	1	EHD2	19	48229108	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	38582203	48229108	10899875	32	11717											
CEP250	11190	broad.mit.edu	37	chr20	34059913	34059913	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaatggaacatgaagcatcTcttagtaggaatgcgcaaga	15	10	10	6	1	1	2	0	1	1	1	2	4	1	4	0	2	3	3	0	2	7	3			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr20:34059913T>C	uc021wco.1	+	10	1634	c.987T>C	c.(985-987)tcT>tcC	p.S329S	CEP250_uc010zve.2_5'UTR|CEP250_uc010zvd.2_Non-coding_Transcript	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	329					G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			ATGAAGCATCTCTTAGTAGGA	0.423													25	166					0	0	1	0	0	C	34059913	T	C	34059913	2	2	270	1	0	0	0	0	0	0	0	1	3252	1538	54	4		4	CEP250	20	34059913	Silent	SNP	T	TCGA-HW-A5KK-01A-11D-A27K-08		34059913	28965607	33	11718											
YTHDF1	54915	broad.mit.edu	37	chr20	61833842	61833842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccggagctggttattgggtaCatccttaacaaaaatccact	12	11	8	10	1	0	0	0	0	0	0	2	1	2	1	3	3	3	3	3	3	5	4			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr20:61833842C>T	uc002yeh.3	-	3	1744	c.1450G>A	c.(1450-1452)Gta>Ata	p.V484I	YTHDF1_uc011aaq.2_Missense_Mutation_p.V434I	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA.	484	YTH.									NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTATTGGGTACATCCTTAACA	0.537													15	81					0	0	1	0	0	T	61833842	C	T	61833842	3	4	270	1	0	0	0	0	1	0	0	0	17495	478	17	3	237	3	YTHDF1	20	61833842	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08	27773929	61833842	1191678	34	11719											
LZTR1	8216	broad.mit.edu	37	chr22	21347144	21347144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggacgccatgtacatcttcgGgggcacggtggacaacaaca	11	6	13	11	3	1	0	0	0	1	0	2	2	1	2	1	5	3	2	1	5	3	2			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr22:21347144G>A	uc002zto.3	+	10	1314	c.1211G>A	c.(1210-1212)gGg>gAg	p.G404E	LZTR1_uc002ztn.3_Missense_Mutation_p.G363E|LZTR1_uc011ahy.2_Missense_Mutation_p.G385E|LZTR1_uc010gsr.1_Missense_Mutation_p.G275E	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	404					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TACATCTTCGGGGGCACGGTG	0.652													4	12					0	0	1	0	0	A	21347144	G	A	21347144	3	1	270	1	0	0	0	0	1	0	0	0	9137	1232	43	3	1253	3	LZTR1	22	21347144	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08		21347144	29957422	35	11720											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								18	40					0	0	1	0	0	T	209113112	C	T	209113112	3	4	271	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08		209113112	34086261	1	11721											
GRIP2	80852	broad.mit.edu	37	chr3	14535207	14535207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactgctggggcctggcgatCggggggcccggctgctgtgt	2	8	20	11	3	0	0	0	0	0	0	1	2	0	0	2	7	2	3	2	7	0	0			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr3:14535207C>T	uc021wtn.1	-	25	3386	c.3386G>A	c.(3385-3387)cGa>cAa	p.R1129Q	GRIP2_uc010heh.3_Non-coding_Transcript	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	1033					synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GCCTGGCGATCGGGGGGCCCG	0.672													9	9					0	0	1	0	0	T	14535207	C	T	14535207	3	4	271	1	0	0	0	0	1	0	0	0	6788	884	31	2	36	2	GRIP2	3	14535207	Missense_Mutation	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08		14535207	183487223	2	11722											
SLC6A3	6531	broad.mit.edu	37	chr5	1411405	1411405	+	Frame_Shift_Del	DEL	C	C	-																															catgatgaagaagaccacggCccaggctgaggacagaggga																										TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr5:1411405delC	uc003jck.3	-	8	1348	c.1222delG	c.(1222-1224)gccfs	p.A408fs		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	408					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AAGACCACGGCCCAGGCTGAG	0.637													2	4	---	---	---	---						-	1411405	C	-	1411405	7	5	271	1	0	1	0	1	0	0	0	0	14685	739	26	0	668	0	SLC6A3	5	1411405	Frame_Shift_Del	DEL	C	TCGA-HW-A5KL-01A-11D-A27K-08		1411405	179503855	3	11723											
TTC17	55761	broad.mit.edu	37	chr11	43423074	43423074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcctgtacgctatcatcGtggagatatctttgaaaatg	11	12	9	9	2	2	2	1	1	1	1	3	3	2	2	2	1	2	2	2	1	5	4			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr11:43423074G>A	uc001mxi.3	+	9	1368	c.1298G>A	c.(1297-1299)cGt>cAt	p.R433H	TTC17_uc001mxh.3_Missense_Mutation_p.R433H|TTC17_uc010rfj.2_Missense_Mutation_p.R376H|TTC17_uc001mxj.3_Missense_Mutation_p.R203H	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.	433							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CGCTATCATCGTGGAGATATC	0.373													10	20					0	0	1	0	0	A	43423074	G	A	43423074	3	1	271	1	0	0	0	0	1	0	0	0	16681	1145	40	1	1336	1	TTC17	11	43423074	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08		43423074	91583442	4	11724											
IPO8	10526	broad.mit.edu	37	chr12	30827606	30827606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taattaccgttcaaagagccGagctacaatatgcagtgccc	13	9	8	11	2	1	1	1	0	0	1	1	2	1	1	3	0	6	3	3	0	6	5			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr12:30827606G>A	uc001rjd.3	-	6	1159	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	IPO8_uc010sjt.2_Missense_Mutation_p.R66W	NM_006390	NP_006381	O15397	IPO8_HUMAN	Homo sapiens importin 8 (IPO8), transcript variant 1, mRNA.	271					intracellular protein transport|signal transduction	cytoplasm|nucleus	Ran GTPase binding|protein transporter activity	p.R271W(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCAAAGAGCCGAGCTACAATA	0.418													73	119					0	0	1	0	0	A	30827606	G	A	30827606	3	1	271	1	0	0	0	0	1	0	0	0	7798	1057	37	2	2378	2	IPO8	12	30827606	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08		30827606	103024289	5	11725											
PPP2R5E	5529	broad.mit.edu	37	chr14	63858726	63858730	+	Frame_Shift_Del	DEL	TACTA	TACTA	-																															ggatctttctccagaaactgTactatacaatatgccagctg																										TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr14:63858726_63858730delTACTA	uc001xgd.1	-	8	1453_1457	c.863_867delTAGTA	c.(862-867)atagtafs	p.I288fs	PPP2R5E_uc010tsf.1_Frame_Shift_Del_p.I212fs|PPP2R5E_uc010tsg.1_Frame_Shift_Del_p.I212fs|PPP2R5E_uc010tsh.1_Frame_Shift_Del_p.I288fs|PPP2R5E_uc001xge.2_Frame_Shift_Del_p.I288fs|PPP2R5E_uc001xgf.1_Non-coding_Transcript	NM_006246	NP_006237	Q16537	2A5E_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', epsilon isoform (PPP2R5E), mRNA.	288					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		CCAGAAACTGTACTATACAATATGC	0.293													8	15	---	---	---	---						-	63858730	TACTA	-	63858726	7	5	271	1	0	1	0	1	0	0	0	0	12396	1625	57	0	560	0	PPP2R5E	14	63858726	Frame_Shift_Del	DEL	TACTA	TCGA-HW-A5KL-01A-11D-A27K-08		63858726	43490814	6	11726											
CRAMP1L	57585	broad.mit.edu	37	chr16	1718033	1718033	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggcctctccataccgctgtCctcgtcagagagctccagca	7	9	9	16	2	2	1	1	0	1	1	6	2	4	1	5	1	3	3	5	1	1	1			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr16:1718033C>T	uc010uvh.2	+	16	3173	c.3173C>T	c.(3172-3174)tCc>tTc	p.S1058F	CRAMP1L_uc002cmf.3_Non-coding_Transcript	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Homo sapiens Crm, cramped-like (Drosophila) (CRAMP1L), mRNA.	1058						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						ATACCGCTGTCCTCGTCAGAG	0.602													22	43					0	0	1	0	0	T	1718033	C	T	1718033	3	4	271	1	0	0	0	0	1	0	0	0	3846	855	30	3	3239	3	CRAMP1L	16	1718033	Missense_Mutation	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08		1718033	88636720	7	11727											
XYLT1	64131	broad.mit.edu	37	chr16	17202869	17202869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccattgtgcagcttcagtgCctcctctgaaagccaaaggg	9	9	10	13	0	2	1	1	1	1	0	3	1	3	1	4	1	4	2	4	1	2	2			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr16:17202869C>T	uc002dfa.3	-	11	2648	c.2563G>A	c.(2563-2565)Gca>Aca	p.A855T		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	855					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGCTTCAGTGCCTCCTCTGAA	0.562													48	38					0	0	1	0	0	T	17202869	C	T	17202869	3	4	271	1	0	0	0	0	1	0	0	0	17460	739	26	3	320	3	XYLT1	16	17202869	Missense_Mutation	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08	15484836	17202869	73151884	8	11728											
OR1D2	4991	broad.mit.edu	37	chr17	2995927	2995927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagatggccacatagcGgtcatatgccatcacagcca	12	6	10	13	1	2	1	2	0	0	1	2	1	2	1	3	2	4	2	3	2	2	2	rs73300984	byFrequency	TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr17:2995927G>A	uc010vrb.2	-	0	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_002548	NP_002539	P34982	OR1D2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA.	122					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GCCACATAGCGGTCATATGCC	0.537													22	103					0	0	1	0	0	A	2995927	G	A	2995927	3	1	271	1	0	0	0	0	1	0	0	0	10953	1116	39	2	577	2	OR1D2	17	2995927	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08		2995927	78199283	9	11729											
TP53	7157	broad.mit.edu	37	chr17	7577586	7577586	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacacatgtagttgtagtggAtggtggtacagtcagagcca	11	11	13	6	0	1	1	1	0	0	1	1	2	1	2	1	3	3	4	1	3	4	5			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr17:7577586A>C	uc002gim.2	-	6	889	c.695T>G	c.(694-696)aTc>aGc	p.I232S	TP53_uc002gig.1_Missense_Mutation_p.I232S|TP53_uc002gih.3_Missense_Mutation_p.I232S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.I100S|TP53_uc010cnf.1_Missense_Mutation_p.I100S|TP53_uc002gii.1_Missense_Mutation_p.I100S|TP53_uc010cni.1_Missense_Mutation_p.I232S|TP53_uc010cnh.1_Missense_Mutation_p.I232S|TP53_uc002gij.2_Missense_Mutation_p.I232S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.I139S|TP53_uc002gio.2_Missense_Mutation_p.I100S|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	232	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.I232T(14)|p.I232N(12)|p.I232F(8)|p.0?(8)|p.T231T(5)|p.I232V(5)|p.?(5)|p.I232S(4)|p.C229_H233delCTTIH(4)|p.I232_H233insG(4)|p.T231S(3)|p.T231A(2)|p.T231I(2)|p.S227_I232delSDCTTI(2)|p.T231fs*16(2)|p.I232_Y236delIHYNY(2)|p.T230_Y234delTTIHY(2)|p.C229_I232del(2)|p.T230fs*6(2)|p.I232fs*8(2)|p.I232fs*5(2)|p.V225fs*23(1)|p.T231del(1)|p.I232I(1)|p.I232L(1)|p.T231N(1)|p.D228fs*12(1)|p.I139_H140insG(1)|p.I139T(1)|p.I232fs*15(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)		GTTGTAGTGGATGGTGGTACA	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	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)			40	9					0	0	1	0	0	C	7577586	A	C	7577586	3	2	271	1	0	0	0	0	1	0	0	0	16378	333	12	5	595	5	TP53	17	7577586	Missense_Mutation	SNP	A	TCGA-HW-A5KL-01A-11D-A27K-08	4581659	7577586	73617624	10	11730											
PLVAP	83483	broad.mit.edu	37	chr19	17476154	17476154	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccagctccatcctgagctGctccgcctccctcttcttct	3	12	7	19	1	3	1	0	1	3	0	7	1	7	1	6	1	3	3	6	1	0	2			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr19:17476154G>C	uc002ngk.1	-	2	1160	c.1120C>G	c.(1120-1122)Cag>Gag	p.Q374E		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA.	374						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATCCTGAGCTGCTCCGCCTCC	0.622													40	67					0	0	1	0	0	C	17476154	G	C	17476154	3	2	271	1	0	0	0	0	1	0	0	0	12116	1328	46	5	224	5	PLVAP	19	17476154	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08		17476154	41652829	11	11731											
CYP2B6	1555	broad.mit.edu	37	chr19	41515236	41515236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagtgtggagaagcaccGtgaaaccctggaccccagcg	11	4	12	14	2	0	2	0	1	0	1	0	4	0	3	5	2	3	1	5	2	2	0			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr19:41515236G>A	uc002opr.1	+	4	765	c.758G>A	c.(757-759)cGt>cAt	p.R253H	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Intron	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	253					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GAGAAGCACCGTGAAACCCTG	0.527													63	129					0	0	1	0	0	A	41515236	G	A	41515236	3	1	271	1	0	0	0	0	1	0	0	0	4164	1145	40	1	776	1	CYP2B6	19	41515236	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08	24039082	41515236	17613747	12	11732											
TMEM143	55260	broad.mit.edu	37	chr19	48837278	48837278	+	Frame_Shift_Del	DEL	T	T	-																															gtcctaccttcgggcgagccTtgagtgccccctggccgccg																										TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr19:48837278delT	uc002pix.1	-	6	1161	c.1152delA	c.(1150-1152)caafs	p.Q384fs	TMEM143_uc002piw.1_Intron|TMEM143_uc010xzn.1_Frame_Shift_Del_p.Q319fs|TMEM143_uc010elw.1_Frame_Shift_Del_p.Q284fs|TMEM143_uc010xzo.1_Frame_Shift_Del_p.Q174fs|TMEM143_uc002piy.1_Frame_Shift_Del_p.Q349fs	NM_018273	NP_060743	Q96AN5	TM143_HUMAN	Homo sapiens transmembrane protein 143 (TMEM143), mRNA.	384						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		CGGGCGAGCCTTGAGTGCCCC	0.751											OREG0025605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	4	---	---	---	---						-	48837278	T	-	48837278	7	5	271	1	0	1	0	1	0	0	0	0	16054	1606	56	0	235	0	TMEM143	19	48837278	Frame_Shift_Del	DEL	T	TCGA-HW-A5KL-01A-11D-A27K-08	7322042	48837278	10291705	13	11733											
MID1	4281	broad.mit.edu	37	chrX	10442895	10442895	+	Frame_Shift_Del	DEL	T	T	-																															aaatatctcttaaaaagtgcTtttttacacatgagttttaa																										TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:10442895delT	uc004cta.4	-	0	307	c.177delA	c.(175-177)aaafs	p.K59fs	MID1_uc004ctd.4_Intron|MID1_uc004cte.4_Intron|MID1_uc004ctg.4_Intron|MID1_uc004cth.4_Intron|MID1_uc004ctk.4_Intron|MID1_uc004ctj.4_Intron|MID1_uc004cti.4_Intron|MID1_uc011mie.1_Intron|MID1_uc004ctm.2_Intron|MID1_uc004ctn.2_Intron|MID1_uc004cto.2_Intron|MID1_uc010ndw.1_Intron|MID1_uc004cts.1_Intron|MID1_uc004csz.4_Intron|MID1_uc004ctb.4_Intron|MID1_uc004ctc.4_Intron|MID1_uc004ctl.2_Frame_Shift_Del_p.K59fs|MID1_uc004ctp.1_Intron|MID1_uc004ctq.1_Intron|MID1_uc004ctr.1_Intron|MID1_uc010ndu.1_Intron|MID1_uc010ndv.1_Intron	NM_033289	NP_150631	O15344	TRI18_HUMAN	Homo sapiens midline 1 (Opitz/BBB syndrome) (MID1), transcript variant 5, mRNA.	0					microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						TAAAAAGTGCTTTTTTACACA	0.289													9	12	---	---	---	---						-	10442895	T	-	10442895	7	5	271	1	0	1	0	1	0	0	0	0	9576	1624	56	0		0	MID1	23	10442895	Frame_Shift_Del	DEL	T	TCGA-HW-A5KL-01A-11D-A27K-08		10442895	144827665	14	11734											
EFHC2	80258	broad.mit.edu	37	chrX	44120532	44120532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagtaatccgatgacgcCggatagaagtccctatggca	13	7	12	9	3	0	3	0	1	0	2	2	6	2	4	3	2	0	2	3	2	5	3			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:44120532C>T	uc004dgb.4	-	3	484	c.395G>A	c.(394-396)cGg>cAg	p.R132Q		NM_025184	NP_079460	Q5JST6	EFHC2_HUMAN	Homo sapiens EF-hand domain (C-terminal) containing 2 (EFHC2), mRNA.	132	DM10 1.						calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						CCGATGACGCCGGATAGAAGT	0.413													23	31					0	0	1	0	0	T	44120532	C	T	44120532	3	4	271	1	0	0	0	0	1	0	0	0	4947	652	23	2	1902	2	EFHC2	23	44120532	Missense_Mutation	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08	33677637	44120532	111150028	15	11735											
FAM120C	54954	broad.mit.edu	37	chrX	54209302	54209303	+	In_Frame_Ins	INS	-	-	GGCGGC																															gggccccgggcagctgagggINSggcggcggcggcggcagcgg																										TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:54209302_54209303insGGCGGC	uc004dsz.4	-	0	412_413	c.329_330insGCCGCC	c.(328-330)ccc>ccGCCGCCc	p.110_110P>PPP	FAM120C_uc011moh.2_In_Frame_Ins_p.110_110P>PPP|FAM120C_uc004dta.2_In_Frame_Ins_p.110_110P>PPP	NM_017848	NP_060318	Q9NX05	F120C_HUMAN	Homo sapiens family with sequence similarity 120C (FAM120C), transcript variant 1, mRNA.	110										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGCTGAGGGGGCGGCGGCGG	0.748													5	10	---	---	---	---						GGCGGC	54209303	-	GGCGGC	54209302	7	5	271	1	0	1	1	0	0	0	0	0	5418	1219	43	0	3046	0	FAM120C	23	54209302	In_Frame_Ins	INS	-	TCGA-HW-A5KL-01A-11D-A27K-08	10088770	54209302	101061258	16	11736											
ALAS2	212	broad.mit.edu	37	chrX	55052378	55052378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccttgcctaggaggcttGtggggccccgggcaagcact	6	7	14	14	1	0	0	0	0	0	0	0	1	0	1	5	5	2	3	5	5	2	3			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:55052378G>A	uc004dua.4	-	1	194	c.56C>T	c.(55-57)aCa>aTa	p.T19I	ALAS2_uc004dub.4_Missense_Mutation_p.T43I|ALAS2_uc004dud.4_Missense_Mutation_p.T19I	NM_000032	NP_000023	P22557	HEM0_HUMAN	Homo sapiens aminolevulinate, delta-, synthase 2 (ALAS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	19					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	TAGGAGGCTTGTGGGGCCCCG	0.542													14	62					0	0	1	0	0	A	55052378	G	A	55052378	3	1	271	1	0	0	0	0	1	0	0	0	485	1377	48	3	1747	3	ALAS2	23	55052378	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08	843076	55052378	100218182	17	11737											
RLIM	51132	broad.mit.edu	37	chrX	73812199	73812200	+	Frame_Shift_Ins	INS	-	-	G																															gaagatcaaggactatggttINSggaggtctctgtcctgatcc																								rs61752449		TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:73812199_73812200insG	uc004ebu.3	-	4	1240_1241	c.950_951insC	c.(949-951)ccafs	p.P317fs	RLIM_uc004ebw.3_Frame_Shift_Ins_p.P317fs	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	Homo sapiens ring finger protein, LIM domain interacting (RLIM), transcript variant 2, mRNA.	317					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGACTATGGTTGGAGGTCTCTG	0.48													30	34	---	---	---	---						G	73812200	-	G	73812199	7	5	271	1	0	1	1	0	0	0	0	0	13390	1799	63	0	927	0	RLIM	23	73812199	Frame_Shift_Ins	INS	-	TCGA-HW-A5KL-01A-11D-A27K-08	18759821	73812199	81458361	18	11738											
ATRX	546	broad.mit.edu	37	chrX	76939961	76939961	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacaaatgtagcaataccAttggttgttttcatccatta	12	15	7	7	0	1	1	1	1	0	0	2	1	2	1	2	1	2	4	2	1	5	7			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:76939961A>G	uc004ecp.4	-	8	1019	c.787T>C	c.(787-789)Tgg>Cgg	p.W263R	ATRX_uc004ecq.4_Missense_Mutation_p.W225R|ATRX_uc004eco.4_Missense_Mutation_p.W48R|ATRX_uc004ecr.2_Missense_Mutation_p.W224R|ATRX_uc010nlx.1_Missense_Mutation_p.W263R|ATRX_uc010nly.1_Missense_Mutation_p.W208R	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	263	ADD.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.W263*(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TAGCAATACCATTGGTTGTTT	0.393			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						111	98					0	0	1	0	0	G	76939961	A	G	76939961	3	3	271	1	0	0	0	0	1	0	0	0	1208	217	8	3	6799	3	ATRX	23	76939961	Missense_Mutation	SNP	A	TCGA-HW-A5KL-01A-11D-A27K-08	3127762	76939961	78330599	19	11739											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299672	125299672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctcgggcagcctctggacgGcgtagccccgcagctcgccc	4	5	14	18	5	1	0	0	0	1	0	3	1	1	1	4	3	3	5	4	3	1	1			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:125299672G>A	uc004euk.2	-	0	409	c.236C>T	c.(235-237)gCc>gTc	p.A79V		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	79										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCTCTGGACGGCGTAGCCCCG	0.706													27	56					0	0	1	0	0	A	125299672	G	A	125299672	3	1	271	1	0	0	0	0	1	0	0	0	4265	1203	42	3	1159	3	DCAF12L2	23	125299672	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08	48359711	125299672	29970888	20	11740											
PLXNB3	5365	broad.mit.edu	37	chrX	153039467	153039467	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggccagggcttcctgtacCagcccaacccccgcctggca	6	5	12	18	1	0	0	0	0	0	0	1	0	1	0	7	4	3	3	7	4	2	2			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:153039467C>A	uc010nuk.2	+	20	3773	c.3502C>A	c.(3502-3504)Cag>Aag	p.Q1168K	PLXNB3_uc004fii.2_Missense_Mutation_p.Q1145K|PLXNB3_uc011mzd.1_Missense_Mutation_p.Q784K|PLXNB3_uc004fij.1_5'Flank|SRPK3_uc004fik.3_5'Flank	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	1145	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTCCTGTACCAGCCCAACCC	0.672													29	64					9.39395e-14	9.39395e-14	1	1	0	A	153039467	C	A	153039467	3	1	271	1	0	0	0	0	1	0	0	0	12125	595	21	5	3625	5	PLXNB3	23	153039467	Missense_Mutation	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08	27739795	153039467	2231093	21	11741											
SYCP1	6847	broad.mit.edu	37	chr1	115453058	115453058	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgaaaataaacaatttgAgaagattgctgaagaattaa	21	11	7	2	0	0	5	0	3	0	3	0	6	0	5	0	0	2	1	0	0	10	5			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr1:115453058A>G	uc001efr.3	+	16	1570	c.1361A>G	c.(1360-1362)gAg>gGg	p.E454G	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.E454G|SYCP1_uc009wgw.3_Missense_Mutation_p.E454G	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	454					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAACAATTTGAGAAGATTGCT	0.284													25	47					0	0	1	0	0	G	115453058	A	G	115453058	3	3	272	1	0	0	0	0	1	0	0	0	15428	304	11	4	1423	4	SYCP1	1	115453058	Missense_Mutation	SNP	A	TCGA-HW-A5KM-01A-11D-A27K-08		115453058	133797563	1	11742											
TADA1	117143	broad.mit.edu	37	chr1	166831463	166831463	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagcatagacaacagctgAaacagcctcctcggtgacat	14	6	8	13	1	0	3	0	2	0	1	2	3	1	3	2	1	5	2	2	1	3	1			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr1:166831463A>C	uc001gdw.3	-	4	701	c.517T>G	c.(517-519)Tca>Gca	p.S173A	TADA1_uc001gdv.3_Missense_Mutation_p.S31A	NM_053053	NP_444281	Q96BN2	TADA1_HUMAN	Homo sapiens transcriptional adaptor 1 (TADA1), mRNA.	173					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						ACAACAGCTGAAACAGCCTCC	0.468													40	83					0	0	1	0	0	C	166831463	A	C	166831463	3	2	272	1	0	0	0	0	1	0	0	0	15506	246	9	5	506	5	TADA1	1	166831463	Missense_Mutation	SNP	A	TCGA-HW-A5KM-01A-11D-A27K-08	51378405	166831463	82419158	2	11743											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								17	31					0	0	1	0	0	T	209113112	C	T	209113112	3	4	272	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-A5KM-01A-11D-A27K-08		209113112	34086261	3	11744											
TIGIT	201633	broad.mit.edu	37	chr3	114014405	114014405	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctaggaatgatgacaggCacaatagaaacaacggggaa	17	5	11	8	1	0	3	0	2	0	1	1	5	1	5	1	4	2	1	1	4	7	2			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr3:114014405C>G	uc003ebg.2	+	1	830	c.75C>G	c.(73-75)ggC>ggG	p.G25G		NM_173799	NP_776160	Q495A1	TIGIT_HUMAN	Homo sapiens T cell immunoreceptor with Ig and ITIM domains (TIGIT), mRNA.	25	Ig-like V-type.				negative regulation of T cell activation|negative regulation of interleukin-12 production|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						TGATGACAGGCACAATAGAAA	0.502													81	188					0	0	1	0	0	G	114014405	C	G	114014405	2	3	272	1	0	0	0	0	0	0	0	1	15899	697	25	5		5	TIGIT	3	114014405	Silent	SNP	C	TCGA-HW-A5KM-01A-11D-A27K-08		114014405	84008025	4	11745											
LAMB4	22798	broad.mit.edu	37	chr7	107692592	107692592	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaaatcaatttcttcctgaAggtcttcaagtaagaggtct	12	13	8	8	0	5	2	2	1	3	1	6	2	6	2	1	2	0	2	1	2	5	4			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr7:107692592A>G	uc010ljo.1	-	25	3950	c.3866T>C	c.(3865-3867)cTt>cCt	p.L1289P	LAMB4_uc003vey.2_Missense_Mutation_p.L1289P|LAMB4_uc010ljp.1_Missense_Mutation_p.L258P	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1289	Domain II.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTCTTCCTGAAGGTCTTCAAG	0.363													47	81					0	0	1	0	0	G	107692592	A	G	107692592	3	3	272	1	0	0	0	0	1	0	0	0	8613	72	3	4	1455	4	LAMB4	7	107692592	Missense_Mutation	SNP	A	TCGA-HW-A5KM-01A-11D-A27K-08		107692592	51446071	5	11746											
IFRD1	3475	broad.mit.edu	37	chr7	112112895	112112897	+	In_Frame_Del	DEL	GAA	GAA	-																															gctgcaacgcttaaaacgatGaagatttctcgtttcgaaag																										TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr7:112112895_112112897delGAA	uc003vgh.3	+	11	1715_1717	c.1245_1247delGAA	c.(1243-1248)atgaag>atg	p.K416del	IFRD1_uc011kmn.2_In_Frame_Del_p.K366del|IFRD1_uc003vgj.3_In_Frame_Del_p.K416del|IFRD1_uc011kmo.2_Non-coding_Transcript|IFRD1_uc011kmp.2_In_Frame_Del_p.K366del|IFRD1_uc003vgk.3_In_Frame_Del_p.K133del	NM_001007245	NP_001184009	O00458	IFRD1_HUMAN	Homo sapiens interferon-related developmental regulator 1 (IFRD1), transcript variant 2, mRNA.	416					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						TTAAAACGATGAAGATTTCTCGT	0.374													24	80	---	---	---	---						-	112112897	GAA	-	112112895	7	5	272	1	0	1	0	1	0	0	0	0	7553	1290	45	0	1287	0	IFRD1	7	112112895	In_Frame_Del	DEL	GAA	TCGA-HW-A5KM-01A-11D-A27K-08	4420303	112112895	47025768	6	11747											
ZNF169	169841	broad.mit.edu	37	chr9	97063233	97063233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtgccctgattgtgggCgtggctttggtcagaaggtc	5	12	15	9	1	1	2	1	1	0	1	2	2	1	2	2	4	1	1	2	4	1	2			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr9:97063233C>T	uc022bki.1	+	3	1451	c.1396C>T	c.(1396-1398)Cgt>Tgt	p.R466C	ZNF169_uc004aum.1_Missense_Mutation_p.R465C	NM_194320	NP_919301	Q14929	ZN169_HUMAN	Homo sapiens zinc finger protein 169 (ZNF169), mRNA.	465						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				TGATTGTGGGCGTGGCTTTGG	0.577													35	63					0	0	1	0	0	T	97063233	C	T	97063233	3	4	272	1	0	0	0	0	1	0	0	0	17739	768	27	1	1407	1	ZNF169	9	97063233	Missense_Mutation	SNP	C	TCGA-HW-A5KM-01A-11D-A27K-08		97063233	44150198	7	11748											
SLC6A5	9152	broad.mit.edu	37	chr11	20628628	20628628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttcttggaggtgtcgctggGccagtttgccagccagggac	5	10	15	11	1	1	0	0	0	1	0	2	2	1	2	3	4	2	2	3	4	0	3			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr11:20628628G>A	uc001mqd.3	+	3	1028	c.755G>A	c.(754-756)gGc>gAc	p.G252D	SLC6A5_uc009yic.3_Missense_Mutation_p.G17D	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	252					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GTGTCGCTGGGCCAGTTTGCC	0.567													26	52					0	0	1	0	0	A	20628628	G	A	20628628	3	1	272	1	0	0	0	0	1	0	0	0	14687	1203	42	3	769	3	SLC6A5	11	20628628	Missense_Mutation	SNP	G	TCGA-HW-A5KM-01A-11D-A27K-08		20628628	114377888	8	11749											
ABCC4	10257	broad.mit.edu	37	chr13	95840746	95840746	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaccacagctaacaattcGccaggtctgacagtaaagga	14	6	9	12	2	1	1	0	1	1	0	2	3	1	2	3	2	2	2	3	2	4	3	rs150945397		TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr13:95840746G>A	uc001vmd.4	-	9	1433	c.1314C>T	c.(1312-1314)ggC>ggT	p.G438G	ABCC4_uc010afk.3_Silent_p.G438G|ABCC4_uc001vme.2_Silent_p.G438G|ABCC4_uc010tih.1_Silent_p.G363G|ABCC4_uc001vmf.2_Silent_p.G395G|ABCC4_uc010afl.1_Silent_p.G395G|ABCC4_uc010afm.1_Silent_p.G451G	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	438	ABC transporter 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CTAACAATTCGCCAGGTCTGA	0.453													50	92					0	0	1	0	0	A	95840746	G	A	95840746	2	1	272	1	0	0	0	0	0	0	0	1	55	1074	38	1		1	ABCC4	13	95840746	Silent	SNP	G	TCGA-HW-A5KM-01A-11D-A27K-08		95840746	19329132	9	11750											
ATP10A	57194	broad.mit.edu	37	chr15	25963417	25963417	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgccggtgggacttggtgCtctgggttctgtgcaccacc	3	11	15	12	2	2	0	0	0	2	0	2	1	2	1	3	4	3	3	3	4	0	2			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr15:25963417C>G	uc010ayu.3	-	7	1599	c.1493G>C	c.(1492-1494)aGc>aCc	p.S498T		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	498					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGACTTGGTGCTCTGGGTTCT	0.687													28	40					0	0	1	0	0	G	25963417	C	G	25963417	3	3	272	1	0	0	0	0	1	0	0	0	1116	797	28	5	3062	5	ATP10A	15	25963417	Missense_Mutation	SNP	C	TCGA-HW-A5KM-01A-11D-A27K-08		25963417	76567975	10	11751											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			33	11					0	0	1	0	0	A	7577121	G	A	7577121	3	1	272	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HW-A5KM-01A-11D-A27K-08		7577121	73618089	11	11752											
TBC1D3B	414059	broad.mit.edu	37	chr17	34499227	34499227	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcttacttggttccgtatcGatccctgaagaacatatgct	9	13	9	10	2	0	2	0	1	0	1	3	3	2	2	2	2	3	4	2	2	5	5			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr17:34499227G>A	uc002hky.2	-	6	634	c.484C>T	c.(484-486)Cga>Tga	p.R162*	DQ571391_uc002hla.1_5'Flank|DQ593188_uc021tvb.1_5'Flank|DQ586142_uc002hlc.3_5'Flank|DQ575686_uc021tvc.1_5'Flank|DQ580080_uc021tvd.1_5'Flank	NM_001001417	NP_001001417	A6NDS4	TBC3B_HUMAN	Homo sapiens TBC1 domain family, member 3B (TBC1D3B), mRNA.	162	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTTCCGTATCGATCCCTGAAG	0.562													100	748					0	0	1	0	0	A	34499227	G	A	34499227	4	1	272	1	0	0	0	0	0	1	0	0	15617	1066	37	2	1197	2	TBC1D3B	17	34499227	Nonsense_Mutation	SNP	G	TCGA-HW-A5KM-01A-11D-A27K-08	26922106	34499227	46695983	12	11753											
FMNL1	752	broad.mit.edu	37	chr17	43323638	43323640	+	In_Frame_Del	DEL	AGA	AGA	-																															tgagctgaaacggaggcagcAgaaggagccactcatttatg																										TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr17:43323638_43323640delAGA	uc002iin.3	+	24	3352_3354	c.3152_3154delAGA	c.(3151-3156)cagaag>cag	p.K1052del	FMNL1_uc002iiq.3_In_Frame_Del_p.K630del|FMNL1_uc010dag.3_Non-coding_Transcript|FMNL1_uc021tyj.1_In_Frame_Del_p.K379del|LOC100133991_uc010dah.3_5'Flank	NM_005892	NP_005883	O95466	FMNL_HUMAN	Homo sapiens formin-like 1 (FMNL1), mRNA.	1052					actin cytoskeleton organization		Rho GTPase binding|actin binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						CGGAGGCAGCAGAAGGAGCCACT	0.567													64	127	---	---	---	---						-	43323640	AGA	-	43323638	7	5	272	1	0	1	0	1	0	0	0	0	5951	188	7	0	3250	0	FMNL1	17	43323638	In_Frame_Del	DEL	AGA	TCGA-HW-A5KM-01A-11D-A27K-08	8824411	43323638	37871572	13	11754											
FIZ1	84922	broad.mit.edu	37	chr19	56109002	56109002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagagcagcggtagggcCgctccccggtgtgcgagcgc	6	4	18	13	5	0	1	0	0	0	1	1	2	1	1	3	4	4	4	3	4	1	1			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr19:56109002C>T	uc002qli.4	-	1	320	c.230G>A	c.(229-231)cGg>cAg	p.R77Q	FIZ1_uc002qlj.4_Missense_Mutation_p.R77Q|ZNF524_uc002qlk.1_5'Flank	NM_032836	NP_116225	Q96SL8	FIZ1_HUMAN	Homo sapiens FLT3-interacting zinc finger 1 (FIZ1), mRNA.	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GCGGTAGGGCCGCTCCCCGGT	0.692													41	51					0	0	1	0	0	T	56109002	C	T	56109002	3	4	272	1	0	0	0	0	1	0	0	0	5900	652	23	2	1268	2	FIZ1	19	56109002	Missense_Mutation	SNP	C	TCGA-HW-A5KM-01A-11D-A27K-08		56109002	3019981	14	11755											
TPTE	7179	broad.mit.edu	37	chr21	10973726	10973726	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtacgcataactcaccttTcattcatacgtgcctctggg	9	12	7	13	3	4	0	3	0	1	0	4	0	4	0	2	1	4	2	2	1	3	5			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr21:10973726T>C	uc002yip.1	-	3	376	c.8A>G	c.(7-9)gAa>gGa	p.E3G	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.E3G|TPTE_uc002yir.1_Missense_Mutation_p.E3G|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	3					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AACTCACCTTTCATTCATACG	0.378													20	79					0	0	1	0	0	C	10973726	T	C	10973726	3	2	272	1	0	0	0	0	1	0	0	0	16427	1783	62	3	1731	3	TPTE	21	10973726	Missense_Mutation	SNP	T	TCGA-HW-A5KM-01A-11D-A27K-08		10973726	37156169	15	11756											
ATRX	546	broad.mit.edu	37	chrX	76937664	76937697	+	Frame_Shift_Del	DEL	AAAATGACAAATTTCTTCTCGCTCAGGTAACTTT	AAAATGACAAATTTCTTCTCGCTCAGGTAACTTT	-																															atttgttttatgcccttaggAaaatgacaaatttcttctcg																										TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chrX:76937664_76937697delAAAATGACAAATTTCTTCTCGCTCAGGTAACTTT	uc004ecp.4	-	8	3283_3316	c.3051_3084delAAAGTTACCTGAGCGAGAAGAAATTTGTCATTTT	c.(3049-3084)gaaaagttacctgagcgagaagaaatttgtcattttfs	p.E1017fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.E979fs|ATRX_uc004eco.4_Frame_Shift_Del_p.E802fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.E949fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.E988fs|ATRX_uc010nly.1_Frame_Shift_Del_p.E962fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1017					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TGCCCTTAGGAAAATGACAAATTTCTTCTCGCTCAGGTAACTTTTCAGTGCCAT	0.303			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						7	10	---	---	---	---						-	76937697	AAAATGACAAATTTCTTCTCGCTCAGGTAACTTT	-	76937664	7	5	272	1	0	1	0	1	0	0	0	0	1208	243	9	0	4502	0	ATRX	23	76937664	Frame_Shift_Del	DEL	AAAATGACAAATTTCTTCTCGCTCAGGTAACTTT	TCGA-HW-A5KM-01A-11D-A27K-08		76937664	78332896	16	11757											
NOTCH2	4853	broad.mit.edu	37	chr1	120468319	120468319	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggcacagcctgactcgcAgtcccggggactggggcaga	8	5	15	13	2	0	2	0	1	0	1	2	3	1	3	2	5	1	3	2	5	0	0			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:120468319A>T	uc001eik.3	-	24	4417	c.4120T>A	c.(4120-4122)Tgc>Agc	p.C1374S		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	1374	EGF-like 35.				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTGACTCGCAGTCCCGGGGA	0.642			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				22	18					0	0	1	0	0	T	120468319	A	T	120468319	3	4	273	1	0	0	0	0	1	0	0	0	10548	188	7	5	3335	5	NOTCH2	1	120468319	Missense_Mutation	SNP	A	TCGA-IK-7675-01A-11D-2086-08		120468319	128782302	1	11758											
SFT2D2	375035	broad.mit.edu	37	chr1	168205989	168205989	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacttatcttctgcattttgCagtctttggcattgacgtgg	6	17	9	9	1	3	1	0	1	3	0	3	1	3	1	0	2	2	3	0	2	1	6			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:168205989C>T	uc001gfi.4	+	5	457	c.394C>T	c.(394-396)Cag>Tag	p.Q132*	TBX19_uc001gfj.4_Intron	NM_199344	NP_955376	O95562	SFT2B_HUMAN	Homo sapiens SFT2 domain containing 2 (SFT2D2), mRNA.	132					protein transport|vesicle-mediated transport	integral to membrane				lung(3)|skin(1)	4	all_hematologic(923;0.215)					CTGCATTTTGCAGTCTTTGGC	0.403													112	148					0	0	1	0	0	T	168205989	C	T	168205989	4	4	273	1	0	0	0	0	0	1	0	0	14186	711	25	3	416	3	SFT2D2	1	168205989	Nonsense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08	47737670	168205989	81044632	2	11759											
TPR	7175	broad.mit.edu	37	chr1	186292829	186292829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttttaatacctgaactggtgGtcccaactcctgaggtgggg	8	12	12	9	0	0	2	0	2	0	0	2	2	2	2	3	5	3	0	3	5	4	3			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:186292829G>A	uc001grv.3	-	42	6583	c.6286C>T	c.(6286-6288)Cca>Tca	p.P2096S	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	2096					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGAACTGGTGGTCCCAACTCC	0.463			T	NTRK1	papillary thyroid								80	133					0	0	1	0	0	A	186292829	G	A	186292829	3	1	273	1	0	0	0	0	1	0	0	0	16413	1261	44	3	841	3	TPR	1	186292829	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	18086840	186292829	62957792	3	11760											
SPATA17	128153	broad.mit.edu	37	chr1	217915355	217915355	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaaatgaaagaaagagAagagaagaaggctaacctcg	20	4	12	5	1	0	6	0	1	0	5	1	8	0	6	1	1	2	2	1	1	7	1			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:217915355A>G	uc001hlh.1	+	5	460	c.434A>G	c.(433-435)gAa>gGa	p.E145G	SPATA17_uc009xdr.1_Non-coding_Transcript	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	Homo sapiens spermatogenesis associated 17 (SPATA17), mRNA.	145						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AAAGAAAGAGAAGAGAAGAAG	0.403													32	28					0	0	1	0	0	G	217915355	A	G	217915355	3	3	273	1	0	0	0	0	1	0	0	0	15001	246	9	3	456	3	SPATA17	1	217915355	Missense_Mutation	SNP	A	TCGA-IK-7675-01A-11D-2086-08	31622526	217915355	31335266	4	11761											
TRIM58	25893	broad.mit.edu	37	chr1	248039522	248039522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtacatggtccttgcctccCcatcagtgcctcttctccaa	7	12	6	16	0	3	0	1	0	2	0	6	0	5	0	6	1	3	1	6	1	2	3			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:248039522C>T	uc001ido.3	+	5	1240	c.1192C>T	c.(1192-1194)Cca>Tca	p.P398S	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	398	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	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)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCTTGCCTCCCCATCAGTGCC	0.512													24	165					0	0	1	0	0	T	248039522	C	T	248039522	3	4	273	1	0	0	0	0	1	0	0	0	16528	623	22	3	1214	3	TRIM58	1	248039522	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08	30124167	248039522	1211099	5	11762											
OR2L2	26246	broad.mit.edu	37	chr1	248202456	248202456	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgagaaacaaggaggTgatgggggccctgacacaag	13	4	15	9	0	0	3	0	3	0	1	0	5	0	4	2	4	2	0	2	4	3	0			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:248202456T>C	uc001idw.3	+	0	983	c.887T>C	c.(886-888)gTg>gCg	p.V296A	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AACAAGGAGGTGATGGGGGCC	0.463													60	73					0	0	1	0	0	C	248202456	T	C	248202456	3	2	273	1	0	0	0	0	1	0	0	0	11007	1696	59	3	889	3	OR2L2	1	248202456	Missense_Mutation	SNP	T	TCGA-IK-7675-01A-11D-2086-08	162934	248202456	1048165	6	11763											
COL5A2	1290	broad.mit.edu	37	chr2	189933563	189933563	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcccagtttcacctctctgCccctgaggaccttcagggcc	5	9	10	17	0	3	1	2	1	1	0	4	2	3	2	6	3	1	1	6	3	0	2			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr2:189933563C>T	uc002uqk.3	-	18	1481	c.1206G>A	c.(1204-1206)ggG>ggA	p.G402G	COL5A2_uc010frx.3_Intron	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	402					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CACCTCTCTGCCCCTGAGGAC	0.502													17	26					0	0	1	0	0	T	189933563	C	T	189933563	2	4	273	1	0	0	0	0	0	0	0	1	3697	726	26	3		3	COL5A2	2	189933563	Silent	SNP	C	TCGA-IK-7675-01A-11D-2086-08		189933563	53265810	7	11764											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								54	52					0	0	1	0	0	T	209113112	C	T	209113112	3	4	273	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08	19179549	209113112	34086261	8	11765											
IRS1	3667	broad.mit.edu	37	chr2	227661149	227661149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgggtgtgcttaaaggatCttggcaatgagtagtaggag	10	11	16	4	0	1	1	0	1	1	0	1	3	1	3	0	4	1	5	0	4	5	4			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr2:227661149C>T	uc021vxn.1	-	0	2306	c.2306G>A	c.(2305-2307)aGa>aAa	p.R769K	IRS1_uc002voh.4_Missense_Mutation_p.R769K	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	769					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CTTAAAGGATCTTGGCAATGA	0.627													142	173					0	0	1	0	0	T	227661149	C	T	227661149	3	4	273	1	0	0	0	0	1	0	0	0	7840	913	32	3	1426	3	IRS1	2	227661149	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08	18548037	227661149	15538224	9	11766											
SCN10A	6336	broad.mit.edu	37	chr3	38768259	38768259	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccctggggcctctgggagcTtggagccctccagagctccc	4	8	13	16	0	1	1	0	0	1	1	4	3	4	3	5	4	3	2	5	4	0	1			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr3:38768259T>C	uc003ciq.3	-	15	2925	c.2925A>G	c.(2923-2925)caA>caG	p.Q975Q		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	975					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTCTGGGAGCTTGGAGCCCTC	0.577													27	34					0	0	1	0	0	C	38768259	T	C	38768259	2	2	273	1	0	0	0	0	0	0	0	1	13912	1606	56	4		4	SCN10A	3	38768259	Silent	SNP	T	TCGA-IK-7675-01A-11D-2086-08		38768259	159254171	10	11767											
FGFRL1	53834	broad.mit.edu	37	chr4	1018108	1018108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgttcccacagagcggacccGttccaagcccgtgctcacag	8	6	10	17	4	1	1	1	0	0	1	3	2	3	2	4	1	3	3	4	1	1	2			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr4:1018108G>A	uc003gce.3	+	5	889	c.728G>A	c.(727-729)cGt>cAt	p.R243H	FGFRL1_uc003gcf.3_Missense_Mutation_p.R243H|FGFRL1_uc003gcg.3_Missense_Mutation_p.R243H|FGFRL1_uc010ibo.3_Missense_Mutation_p.R243H	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	Homo sapiens fibroblast growth factor receptor-like 1 (FGFRL1), transcript variant 3, mRNA.	243					regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	p.R243L(4)|p.R213L(2)		endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GAGCGGACCCGTTCCAAGCCC	0.711													36	46					0	0	1	0	0	A	1018108	G	A	1018108	3	1	273	1	0	0	0	0	1	0	0	0	5869	1145	40	1	746	1	FGFRL1	4	1018108	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08		1018108	190136168	11	11768											
EVC2	132884	broad.mit.edu	37	chr4	5586352	5586352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagcgcctgcactcacccGgctgtgcgactccaggatct	6	7	10	18	3	2	0	1	0	1	0	3	2	3	1	4	2	3	2	4	2	0	0	rs139610006		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr4:5586352G>A	uc003gij.3	-	16	3109	c.3055C>T	c.(3055-3057)Cgg>Tgg	p.R1019W	EVC2_uc003gik.3_Missense_Mutation_p.R939W|EVC2_uc011bwb.2_Missense_Mutation_p.R459W	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA.	1019						integral to membrane		p.S1018S(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GCACTCACCCGGCTGTGCGAC	0.602													11	10					0	0	1	0	0	A	5586352	G	A	5586352	3	1	273	1	0	0	0	0	1	0	0	0	5286	1115	39	2	895	2	EVC2	4	5586352	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	4568244	5586352	185567924	12	11769											
AFP	174	broad.mit.edu	37	chr4	74316388	74316388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacctcgtcggagctgatggCcatcaccagaaaaatggcag	12	6	12	11	2	1	2	1	1	0	1	3	4	1	3	3	3	1	2	3	3	2	0			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr4:74316388C>T	uc003hgz.1	+	10	1393	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V	AFP_uc011cbg.1_Missense_Mutation_p.A223V	NM_001134	NP_001125	P02771	FETA_HUMAN	Homo sapiens alpha-fetoprotein (AFP), mRNA.	449	Albumin 3.				transport		metal ion binding	p.M448I(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAGCTGATGGCCATCACCAGA	0.507									Alpha-Fetoprotein, Hereditary Persistence of				37	40					0	0	1	0	0	T	74316388	C	T	74316388	3	4	273	1	0	0	0	0	1	0	0	0	363	739	26	3	1388	3	AFP	4	74316388	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08	68730036	74316388	116837888	13	11770											
C4orf37	285555	broad.mit.edu	37	chr4	99030425	99030425	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagagttgccaaaatgtataCctttgtatttcaaagttgca	14	14	7	6	0	1	1	1	0	0	1	1	1	1	1	2	0	3	5	2	0	7	7			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr4:99030425C>A	uc003htt.2	-	3	509	c.419G>T	c.(418-420)gGt>gTt	p.G140V		NM_174952	NP_777612	Q8N412	CD037_HUMAN	Homo sapiens chromosome 4 open reading frame 37 (C4orf37), mRNA.	140										cervix(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(3)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;2.27e-08)		AAAATGTATACCTTTGTATTT	0.313													30	42					6.00712e-18	6.36048e-18	1	1	0	A	99030425	C	A	99030425	3	1	273	1	0	0	0	0	1	0	0	0	2267	507	18	5	992	5	C4orf37	4	99030425	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08	24714037	99030425	92123851	14	11771											
HEATR7B2	133558	broad.mit.edu	37	chr5	41070936	41070936	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgatgcttacctatggattCctctgtactaagtgtcatgt	9	16	8	8	0	2	1	1	1	1	0	3	2	3	2	2	1	3	2	2	1	4	5			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr5:41070936C>A	uc003jmj.4	-	0	509	c.19G>T	c.(19-21)Gaa>Taa	p.E7*	HEATR7B2_uc021xxt.1_Nonsense_Mutation_p.E7*	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	7							binding	p.E7*(2)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CCTATGGATTCCTCTGTACTA	0.423													7	9					0.00307968	0.00307968	1	1	0	A	41070936	C	A	41070936	4	1	273	1	0	0	0	0	0	1	0	0	7035	864	30	5	4906	5	HEATR7B2	5	41070936	Nonsense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08		41070936	139844324	15	11772											
MICA	100507436	broad.mit.edu	37	chr6	31379973	31379973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgctacatggaacacagcgGgaatcacagcactcaccctg	12	6	9	14	1	2	0	2	0	0	0	2	2	2	2	1	2	5	2	1	2	3	1			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr6:31379973G>A	uc003ntk.1	+	3	902	c.863G>A	c.(862-864)gGg>gAg	p.G288E	MICA_uc003rxz.1_Missense_Mutation_p.G150E|MICA_uc021yun.1_Missense_Mutation_p.G191E|MICA_uc021yuo.1_Missense_Mutation_p.G191E	NM_001177519	NP_001170990	Q29983	MICA_HUMAN	Homo sapiens MHC class I polypeptide-related sequence A (MICA), transcript variant 1 (allele MICA*00801), mRNA.	288	Ig-like C1-type.				antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	MHC class I protein complex|cell surface|cytoplasm|extracellular space|integral to plasma membrane	natural killer cell lectin-like receptor binding			breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				GAACACAGCGGGAATCACAGC	0.612													3	46					0	0	1	0	0	A	31379973	G	A	31379973	3	1	273	1	0	0	0	0	1	0	0	0	9568	1232	43	3	877	3	MICA	6	31379973	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08		31379973	139735094	16	11773											
HLA-DOA	3111	broad.mit.edu	37	chr6	32974943	32974943	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgatggccaggcccagggcAcagaccagggtctccatggc	8	4	14	15	1	1	1	0	0	1	1	2	2	1	1	5	5	0	1	5	5	0	0			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr6:32974943A>G	uc003ocr.3	-	3	739	c.663T>C	c.(661-663)tgT>tgC	p.C221C	HLA-DOA_uc010juj.3_Intron|HLA-DOA_uc010jui.3_3'UTR	NM_002119	NP_002110	P06340	DOA_HUMAN	Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.	221					T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	MHC class II protein complex|endosome membrane|integral to membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GGCCCAGGGCACAGACCAGGG	0.577													43	71					0	0	1	0	0	G	32974943	A	G	32974943	2	3	273	1	0	0	0	0	0	0	0	1	7200	157	6	3		3	HLA-DOA	6	32974943	Silent	SNP	A	TCGA-IK-7675-01A-11D-2086-08	1594970	32974943	138140124	17	11774											
PKHD1	5314	broad.mit.edu	37	chr6	51892645	51892645	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagcagggacccacagcAaggctcgatgctgaaaactt	13	5	10	13	1	0	1	0	1	0	0	1	3	0	2	2	2	4	4	2	2	3	1			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr6:51892645A>G	uc003pah.1	-	30	3886	c.3610T>C	c.(3610-3612)Tgc>Cgc	p.C1204R	PKHD1_uc003pai.3_Missense_Mutation_p.C1204R	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1204	IPT/TIG 7.		C -> Y.		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)					GACCCACAGCAAGGCTCGATG	0.413													30	52					0	0	1	0	0	G	51892645	A	G	51892645	3	3	273	1	0	0	0	0	1	0	0	0	11971	130	5	3	8801	3	PKHD1	6	51892645	Missense_Mutation	SNP	A	TCGA-IK-7675-01A-11D-2086-08	18917702	51892645	119222422	18	11775											
TWISTNB	221830	broad.mit.edu	37	chr7	19738111	19738113	+	In_Frame_Del	DEL	TTC	TTC	-																															cctgaacttcctggtgctttTtcttcttcttctttttcttt																										TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr7:19738111_19738113delTTC	uc003sup.1	-	3	864_866	c.843_845delGAA	c.(841-846)aagaaa>aaa	p.281_282KK>K		NM_001002926	NP_001002926	Q3B726	RPA43_HUMAN	Homo sapiens TWIST neighbor (TWISTNB), mRNA.	281	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CTGGTGCTTTTTCTTCTTCTTCT	0.433													7	504	---	---	---	---						-	19738113	TTC	-	19738111	7	5	273	1	0	1	0	1	0	0	0	0	16781	1841	64	0	175	0	TWISTNB	7	19738111	In_Frame_Del	DEL	TTC	TCGA-IK-7675-01A-11D-2086-08		19738111	139400552	19	11776											
WBSCR17	64409	broad.mit.edu	37	chr7	71135022	71135022	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggaaaagtttaaagtgtaaGaatttccagtggtacctgga	15	11	11	4	0	0	1	0	0	0	1	1	3	1	3	2	3	1	3	2	3	7	5			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr7:71135022G>C	uc003tvy.3	+	7	1332	c.1332G>C	c.(1330-1332)aaG>aaC	p.K444N	WBSCR17_uc003tvz.3_Missense_Mutation_p.K143N	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	444						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TAAAGTGTAAGAATTTCCAGT	0.438													67	110					0	0	1	0	0	C	71135022	G	C	71135022	3	2	273	1	0	0	0	0	1	0	0	0	17261	933	33	5	1362	5	WBSCR17	7	71135022	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	51396911	71135022	88003641	20	11777											
ADAM28	10863	broad.mit.edu	37	chr8	24151678	24151678	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcatgttgcaaggtctcCtgccagtcagtctcctcctc	6	11	8	16	0	3	0	1	0	2	0	7	0	4	0	5	1	3	3	5	1	1	1			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr8:24151678C>G	uc003xdy.3	+	0	99	c.16C>G	c.(16-18)Ctg>Gtg	p.L6V	ADAM28_uc003xdx.3_Missense_Mutation_p.L6V|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Non-coding_Transcript	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	6					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GCAAGGTCTCCTGCCAGTCAG	0.498													75	80					0	0	1	0	0	G	24151678	C	G	24151678	3	3	273	1	0	0	0	0	1	0	0	0	246	680	24	5	18	5	ADAM28	8	24151678	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08		24151678	122212344	21	11778											
HAUS6	54801	broad.mit.edu	37	chr9	19093229	19093229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaaaatgatacatcagatGaataaacttaggaccaccag	18	8	7	8	0	1	3	1	2	0	1	1	4	1	4	2	1	3	1	2	1	7	3	rs151253216		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr9:19093229G>A	uc003znk.3	-	3	629	c.376C>T	c.(376-378)Cat>Tat	p.H126Y	HAUS6_uc022bdv.1_5'UTR|HAUS6_uc003znl.1_5'UTR	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 6 (HAUS6), mRNA.	126					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|nucleus|spindle		p.H126Y(2)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TACATCAGATGAATAAACTTA	0.294													4	26					0	0	1	0	0	A	19093229	G	A	19093229	3	1	273	1	0	0	0	0	1	0	0	0	6970	1290	45	3	2547	3	HAUS6	9	19093229	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08		19093229	122120202	22	11779			1	27		2	2	36	G		5.765943e-05
HAUS6	54801	broad.mit.edu	37	chr9	19093264	19093264	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caccaggagaaagaaatagtGaaccaacaacttgaggaaag	20	4	10	7	0	0	4	0	2	0	2	0	6	0	5	2	2	3	0	2	2	7	2			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr9:19093264G>C	uc003znk.3	-	3	594	c.341C>G	c.(340-342)tCa>tGa	p.S114*	HAUS6_uc022bdv.1_5'UTR|HAUS6_uc003znl.1_5'UTR	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 6 (HAUS6), mRNA.	114					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AAGAAATAGTGAACCAACAAC	0.313													6	31					0	0	1	0	0	C	19093264	G	C	19093264	4	2	273	1	0	0	0	0	0	1	0	0	6970	1294	45	5	2582	5	HAUS6	9	19093264	Nonsense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	35	19093264	122120167	23	11780			1	27		2	2	36	G		5.765943e-05
ANXA2	302	broad.mit.edu	37	chr9	33625260	33625260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taagggcgactaccagaaagCgctgctgtacctgtgtggtg	9	9	14	9	2	0	1	0	0	0	1	0	2	0	1	2	2	4	3	2	2	4	3			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr9:33625260C>T	uc010mjx.3	+	0	1038	c.989C>T	c.(988-990)gCg>gTg	p.A330V	DJ439583_uc022bfp.1_5'Flank|DJ439557_uc022bfq.1_5'Flank|DJ439530_uc022bfr.1_5'Flank|DJ439561_uc022bfs.1_5'Flank	NM_004039	NP_004030	P07355	ANXA2_HUMAN	Homo sapiens annexin A2 (ANXA2), transcript variant 3, mRNA.	330					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	TACCAGAAAGCGCTGCTGTAC	0.488													32	14					0	0	1	0	0	T	33625260	C	T	33625260	3	4	273	1	0	0	0	0	1	0	0	0	718	783	27	1		1	ANXA2	9	33625260	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08	14531996	33625260	107588171	24	11781											
CNTNAP3	79937	broad.mit.edu	37	chr9	39140572	39140572	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccacttccatctgcatcaAtatagtaaagcccagacggg	12	8	9	12	1	2	1	1	0	1	1	3	1	3	1	3	2	2	2	3	2	5	4			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr9:39140572A>C	uc004abi.3	-	11	2059	c.1820T>G	c.(1819-1821)aTt>aGt	p.I607S	CNTNAP3_uc004abj.3_Missense_Mutation_p.I607S|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Missense_Mutation_p.I607S|CNTNAP3_uc011lqs.1_Missense_Mutation_p.I514S	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	607	Fibrinogen C-terminal.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ATCTGCATCAATATAGTAAAG	0.453													38	40					0	0	1	0	0	C	39140572	A	C	39140572	3	2	273	1	0	0	0	0	1	0	0	0	3648	101	4	5	2098	5	CNTNAP3	9	39140572	Missense_Mutation	SNP	A	TCGA-IK-7675-01A-11D-2086-08	5515312	39140572	102072859	25	11782											
SVEP1	79987	broad.mit.edu	37	chr9	113275228	113275228	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagtagctctctgaaccGgaccacaaaccattgggtag	11	8	10	12	1	1	1	0	1	1	0	2	2	1	2	3	2	4	4	3	2	4	3			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr9:113275228G>A	uc010mtz.3	-	4	1618	c.1281C>T	c.(1279-1281)tcC>tcT	p.S427S	SVEP1_uc010mua.1_Silent_p.S427S|SVEP1_uc004beu.2_Silent_p.S427S|SVEP1_uc004bev.3_Silent_p.S171S	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	427	Sushi 1.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCTCTGAACCGGACCACAAAC	0.443													31	54					0	0	1	0	0	A	113275228	G	A	113275228	2	1	273	1	0	0	0	0	0	0	0	1	15417	1103	39	2		2	SVEP1	9	113275228	Silent	SNP	G	TCGA-IK-7675-01A-11D-2086-08	74134656	113275228	27938203	26	11783											
OR1N2	138882	broad.mit.edu	37	chr9	125316257	125316257	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtggttctgctcttctatgGgtctcttatgggtgtgtatt	3	19	13	6	0	4	0	0	0	4	0	5	0	4	0	0	4	1	3	0	4	3	6			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr9:125316257G>T	uc011lyx.2	+	0	809	c.809G>T	c.(808-810)gGg>gTg	p.G270V		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CTCTTCTATGGGTCTCTTATG	0.473													49	49					4.25531e-23	4.68953e-23	1	1	0	T	125316257	G	T	125316257	3	4	273	1	0	0	0	0	1	0	0	0	10970	1232	43	5	811	5	OR1N2	9	125316257	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	12041029	125316257	15897174	27	11784											
AMBRA1	55626	broad.mit.edu	37	chr11	46456428	46456429	+	Frame_Shift_Ins	INS	-	-	GGTTATGGGG																															ggtgtagagcatttcgcccaINSggttatggggggccagggag																										TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr11:46456428_46456429insGGTTATGGGG	uc001ncv.2	-	14	3114_3115	c.2800_2801insCCCCATAACC	c.(2800-2802)ctgfs	p.L934fs	AMBRA1_uc010rgt.1_Frame_Shift_Ins_p.L497fs|AMBRA1_uc009ylc.1_Frame_Shift_Ins_p.L902fs|AMBRA1_uc001ncu.1_Frame_Shift_Ins_p.L841fs|AMBRA1_uc010rgu.1_Frame_Shift_Ins_p.L931fs|AMBRA1_uc001ncw.2_Frame_Shift_Ins_p.L812fs|AMBRA1_uc001ncx.2_Frame_Shift_Ins_p.L871fs	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	931					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CATTTCGCCCAGGTTATGGGGG	0.569													8	14	---	---	---	---						GGTTATGGGG	46456429	-	GGTTATGGGG	46456428	7	5	273	1	0	1	1	0	0	0	0	0	565	188	7	0	1128	0	AMBRA1	11	46456428	Frame_Shift_Ins	INS	-	TCGA-IK-7675-01A-11D-2086-08		46456428	88550088	28	11785											
OR9G9	390174	broad.mit.edu	37	chr11	56468238	56468238	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgaccgctacgtggccatCtccaagcccctgctttatgc	7	11	8	15	2	1	1	0	1	1	0	2	1	1	1	5	1	4	2	5	1	4	4			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr11:56468238C>T	uc010rjn.2	+	0	375	c.375C>T	c.(373-375)atC>atT	p.I125I	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I125I(1)									ACGTGGCCATCTCCAAGCCCC	0.522													6	149					0	0	1	0	0	T	56468238	C	T	56468238	2	4	273	1	0	0	0	0	0	0	0	1	11252	903	32	3		3	OR9G9	11	56468238	Silent	SNP	C	TCGA-IK-7675-01A-11D-2086-08	10011810	56468238	78538278	29	11786											
PCNXL3	399909	broad.mit.edu	37	chr11	65403262	65403262	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattgcccactggctcctgcGcacctgggagaggtgaggcc	6	7	14	14	1	0	2	0	1	0	1	1	3	1	2	4	4	2	2	4	4	0	1			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr11:65403262G>A	uc001oey.2	+	31	5447	c.5447G>A	c.(5446-5448)cGc>cAc	p.R1816H	PCNXL3_uc001oez.2_Missense_Mutation_p.R703H|MIR4690_uc021qln.1_5'Flank	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.	1816						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TGGCTCCTGCGCACCTGGGAG	0.687													7	7					0	0	1	0	0	A	65403262	G	A	65403262	3	1	273	1	0	0	0	0	1	0	0	0	11593	1087	38	1	5573	1	PCNXL3	11	65403262	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	8935024	65403262	69603254	30	11787											
PLEKHA5	54477	broad.mit.edu	37	chr12	19475547	19475547	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtggtgttacaaagggaTgatttacaaaatggactgct	14	11	11	5	0	0	1	0	1	0	0	0	3	0	3	0	3	3	2	0	3	5	3			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr12:19475547T>C	uc001reb.3	+	14	2193	c.2085T>C	c.(2083-2085)gaT>gaC	p.D695D	PLEKHA5_uc010sie.2_Silent_p.D798D|PLEKHA5_uc001rea.3_Silent_p.D753D|PLEKHA5_uc009zin.3_Silent_p.D453D|PLEKHA5_uc010sig.2_Silent_p.D614D|PLEKHA5_uc010sih.1_Silent_p.D587D|PLEKHA5_uc021qvy.1_Silent_p.D626D|PLEKHA5_uc001rec.1_Silent_p.D441D|PLEKHA5_uc009zio.3_Silent_p.D17D	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	695							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TACAAAGGGATGATTTACAAA	0.408													56	56					0	0	1	0	0	C	19475547	T	C	19475547	2	2	273	1	0	0	0	0	0	0	0	1	12059	1461	51	3		3	PLEKHA5	12	19475547	Silent	SNP	T	TCGA-IK-7675-01A-11D-2086-08		19475547	114376348	31	11788											
KRT3	3850	broad.mit.edu	37	chr12	53189414	53189431	+	In_Frame_Del	DEL	CCAAAGCCACCAGCCCCT	CCAAAGCCACCAGCCCCT	-																															caccaaagccaccaggaccaCcaaagccaccagcccctcca																								rs142692092	by1000genomes	TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr12:53189414_53189431delCCAAAGCCACCAGCCCCT	uc001say.3	-	0	462_479	c.396_413delAGGGGCTGGTGGCTTTGG	c.(394-414)ggaggggctggtggctttggt>ggt	p.132_138GGAGGFG>G		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	132	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						accaggaccaccaaagccaccagcccctccaaagccac	0.633													4	4	---	---	---	---						-	53189431	CCAAAGCCACCAGCCCCT	-	53189414	7	5	273	1	0	1	0	1	0	0	0	0	8466	507	18	0	1509	0	KRT3	12	53189414	In_Frame_Del	DEL	CCAAAGCCACCAGCCCCT	TCGA-IK-7675-01A-11D-2086-08	33713867	53189414	80662481	32	11789											
KIAA0564	23078	broad.mit.edu	37	chr13	42293731	42293731	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgaatttgccttactcctTtgccagctgcacactggtag	8	13	8	12	0	0	1	0	1	0	0	1	1	1	1	3	1	5	3	3	1	3	4			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr13:42293731T>C	uc001uyj.3	-	25	3182	c.3112A>G	c.(3112-3114)Aag>Gag	p.K1038E	KIAA0564_uc001uyk.3_Missense_Mutation_p.K1038E	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	1038						extracellular region	ATP binding|ATPase activity	p.K1038K(1)		endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		CCTTACTCCTTTGCCAGCTGC	0.373													57	60					0	0	1	0	0	C	42293731	T	C	42293731	3	2	273	1	0	0	0	0	1	0	0	0	8185	1850	64	3	2689	3	KIAA0564	13	42293731	Missense_Mutation	SNP	T	TCGA-IK-7675-01A-11D-2086-08		42293731	72876147	33	11790											
ZNF609	23060	broad.mit.edu	37	chr15	64966267	64966267	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagcaaaacccgggcaggagCcaatagcaaaggccgtcggg	13	2	14	12	3	0	0	0	0	0	0	1	1	0	1	3	4	4	3	3	4	5	1			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr15:64966267C>G	uc002ann.3	+	3	1214	c.1214C>G	c.(1213-1215)gCc>gGc	p.A405G		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	405						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGGGCAGGAGCCAATAGCAAA	0.567													67	104					0	0	1	0	0	G	64966267	C	G	64966267	3	3	273	1	0	0	0	0	1	0	0	0	18032	739	26	5	1228	5	ZNF609	15	64966267	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08		64966267	37565125	34	11791											
GGA2	23062	broad.mit.edu	37	chr16	23491094	23491094	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgccctcacccaaggctGccaggtcctgatgaagcaaa	11	6	9	15	0	1	2	1	2	0	0	2	2	2	2	5	2	3	2	5	2	3	0			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr16:23491094G>T	uc002dlq.3	-	10	1204	c.1121C>A	c.(1120-1122)gCa>gAa	p.A374E	GGA2_uc010bxo.2_Non-coding_Transcript	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 2 (GGA2), mRNA.	374	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		ACCCAAGGCTGCCAGGTCCTG	0.612													11	73					0.000566183	0.000576866	1	1	0	T	23491094	G	T	23491094	3	4	273	1	0	0	0	0	1	0	0	0	6353	1319	46	5	748	5	GGA2	16	23491094	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08		23491094	66863659	35	11792											
ABCC12	94160	broad.mit.edu	37	chr16	48145730	48145730	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaatcagttttgcatagCgccctctctcctccattaac	8	14	6	13	1	2	1	1	1	1	0	5	1	4	1	3	0	3	2	3	0	3	4			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr16:48145730C>T	uc002efc.1	-	13	2427	c.2081G>A	c.(2080-2082)cGc>cAc	p.R694H	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	694	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TTTTGCATAGCGCCCTCTCTC	0.463													33	65					0	0	1	0	0	T	48145730	C	T	48145730	3	4	273	1	0	0	0	0	1	0	0	0	52	768	27	1	2062	1	ABCC12	16	48145730	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08	24654636	48145730	42209023	36	11793											
WDR81	124997	broad.mit.edu	37	chr17	1637326	1637326	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgaggacttcttcctgagCggcagcaaggatcgtaccgt	9	8	13	11	4	1	1	0	1	1	0	3	4	2	3	2	3	4	3	2	3	2	3	rs143987787		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr17:1637326C>T	uc002ftj.2	+	6	5124	c.4995C>T	c.(4993-4995)agC>agT	p.S1665S	WDR81_uc002fth.2_Silent_p.S614S|WDR81_uc010vqp.1_Silent_p.S462S|WDR81_uc002fti.2_Silent_p.S438S|WDR81_uc010vqq.1_Silent_p.S296S	NM_001163809	NP_001157281	B3KXU1	B3KXU1_HUMAN	Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA.	438										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCTTCCTGAGCGGCAGCAAGG	0.657													44	67					0	0	1	0	0	T	1637326	C	T	1637326	2	4	273	1	0	0	0	0	0	0	0	1	17327	767	27	1		1	WDR81	17	1637326	Silent	SNP	C	TCGA-IK-7675-01A-11D-2086-08		1637326	79557884	37	11794											
RABEP1	9135	broad.mit.edu	37	chr17	5257698	5257698	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aataagagaaaggatcacaaAaaagcagatgttgaggaaga	22	5	11	3	0	1	4	1	1	0	3	1	7	1	6	0	2	1	2	0	2	7	2			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr17:5257698A>G	uc002gbm.4	+	7	1232	c.1008A>G	c.(1006-1008)aaA>aaG	p.K336K	RABEP1_uc010clc.1_Silent_p.K329K|RABEP1_uc010cld.1_Silent_p.K293K|RABEP1_uc010vsw.1_Silent_p.K293K|RABEP1_uc002gbl.4_Silent_p.K336K	NM_004703	NP_004694	Q15276	RABE1_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA.	336					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	GTPase activator activity|growth factor activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AGGATCACAAAAAAGCAGATG	0.338													25	24					0	0	1	0	0	G	5257698	A	G	5257698	2	3	273	1	0	0	0	0	0	0	0	1	12961	11	1	3		3	RABEP1	17	5257698	Silent	SNP	A	TCGA-IK-7675-01A-11D-2086-08	3620372	5257698	75937512	38	11795											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			23	4					0	0	1	0	0	A	7577121	G	A	7577121	3	1	273	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	2319423	7577121	73618089	39	11796											
CASC3	22794	broad.mit.edu	37	chr17	38320314	38320314	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggacctgggaagctccggtgGattctagtacaagtggactt	9	10	14	8	1	1	0	0	0	1	0	2	4	2	4	2	5	2	2	2	5	4	4			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr17:38320314G>T	uc010cwt.1	+	6	1661	c.1366G>T	c.(1366-1368)Gat>Tat	p.D456Y	CASC3_uc010cws.1_Missense_Mutation_p.D456Y|CASC3_uc002hue.3_Missense_Mutation_p.D456Y	NM_007359	NP_031385	O15234	CASC3_HUMAN	Homo sapiens cancer susceptibility candidate 3 (CASC3), mRNA.	456	Necessary for localization in cytoplasmic stress granules.				RNA splicing|mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	RNA binding|identical protein binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						AGCTCCGGTGGATTCTAGTAC	0.542													29	34					9.17885e-22	9.91316e-22	1	1	0	T	38320314	G	T	38320314	3	4	273	1	0	0	0	0	1	0	0	0	2661	1174	41	5	1392	5	CASC3	17	38320314	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	30743193	38320314	42874896	40	11797											
G6PC	2538	broad.mit.edu	37	chr17	41059590	41059590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caggtgtatactacgtgatgGtcacatctactctttccatc	9	14	7	11	1	3	1	1	1	2	0	5	1	4	1	1	2	3	1	1	2	4	5			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr17:41059590G>A	uc002icb.1	+	2	470	c.391G>A	c.(391-393)Gtc>Atc	p.V131I	G6PC_uc010whf.1_Intron	NM_000151	NP_000142	P35575	G6PC_HUMAN	Homo sapiens glucose-6-phosphatase, catalytic subunit (G6PC), mRNA.	131					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTACGTGATGGTCACATCTAC	0.517													21	45					0	0	1	0	0	A	41059590	G	A	41059590	3	1	273	1	0	0	0	0	1	0	0	0	6143	1261	44	3	401	3	G6PC	17	41059590	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	2739276	41059590	40135620	41	11798											
RFX1	5989	broad.mit.edu	37	chr19	14077272	14077272	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactgggctggctgaggttgTacctccagaaggtcttccac	7	10	12	12	0	1	2	0	1	1	1	3	2	3	2	3	4	1	4	3	4	2	3			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr19:14077272T>C	uc002mxv.3	-	13	2194	c.1922A>G	c.(1921-1923)tAc>tGc	p.Y641C		NM_002918	NP_002909	P22670	RFX1_HUMAN	Homo sapiens regulatory factor X, 1 (influences HLA class II expression) (RFX1), mRNA.	641					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GCTGAGGTTGTACCTCCAGAA	0.642													22	25					0	0	1	0	0	C	14077272	T	C	14077272	3	2	273	1	0	0	0	0	1	0	0	0	13262	1638	57	3	1049	3	RFX1	19	14077272	Missense_Mutation	SNP	T	TCGA-IK-7675-01A-11D-2086-08		14077272	45051711	42	11799											
RASIP1	54922	broad.mit.edu	37	chr19	49227649	49227649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagccatggagagtttcCggaagaactcagtggcaatg	12	8	12	9	1	2	2	2	0	0	2	3	4	3	3	2	3	2	2	2	3	3	1			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr19:49227649C>T	uc002pki.3	-	9	2686	c.2489G>A	c.(2488-2490)cGg>cAg	p.R830Q	RASIP1_uc002pkh.3_Missense_Mutation_p.R91Q	NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Homo sapiens Ras interacting protein 1 (RASIP1), mRNA.	830	Dilute.				signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GGAGAGTTTCCGGAAGAACTC	0.572													53	66					0	0	1	0	0	T	49227649	C	T	49227649	3	4	273	1	0	0	0	0	1	0	0	0	13078	652	23	2	414	2	RASIP1	19	49227649	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08	35150377	49227649	9901334	43	11800											
JPH2	57158	broad.mit.edu	37	chr20	42788430	42788430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccctcctcgcggtggccgtCgggcagcgtggtgcagccat	3	7	16	15	5	0	0	0	0	0	0	3	0	1	0	4	4	3	2	4	4	0	0			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr20:42788430C>T	uc002xli.1	-	1	1870	c.997G>A	c.(997-999)Gac>Aac	p.D333N		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	333					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGGTGGCCGTCGGGCAGCGTG	0.662													37	26					0	0	1	0	0	T	42788430	C	T	42788430	3	4	273	1	0	0	0	0	1	0	0	0	7961	884	31	2	1109	2	JPH2	20	42788430	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08		42788430	20237090	44	11801											
KRTAP20-2	337976	broad.mit.edu	37	chr21	32007647	32007647	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggagtcctgggcggtggctAtggctgtggctgtggttatg	3	13	19	6	1	0	0	0	0	0	0	1	1	1	1	1	7	0	4	1	7	2	2			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr21:32007647A>G	uc011adg.2	+	0	65	c.65A>G	c.(64-66)tAt>tGt	p.Y22C		NM_181616	NP_853647	Q3LI61	KR202_HUMAN	Homo sapiens keratin associated protein 20-2 (KRTAP20-2), mRNA.	22						intermediate filament				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						GGCGGTGGCTATGGCTGTGGC	0.562													62	64					0	0	1	0	0	G	32007647	A	G	32007647	3	3	273	1	0	0	0	0	1	0	0	0	8537	449	16	3	67	3	KRTAP20-2	21	32007647	Missense_Mutation	SNP	A	TCGA-IK-7675-01A-11D-2086-08		32007647	16122248	45	11802											
MN1	4330	broad.mit.edu	37	chr22	28195603	28195605	+	In_Frame_Del	DEL	TGC	TGC	-																															acctctcaaagaacacaccaTgctgctgctgctgctgctgg																										TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr22:28195603_28195605delTGC	uc003adj.3	-	0	1882_1884	c.927_929delGCA	c.(925-930)cagcat>cat	p.Q309del		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	309							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GAACACACCAtgctgctgctgct	0.64			T	ETV6	"AML, meningioma"								2	4	---	---	---	---						-	28195605	TGC	-	28195603	7	5	273	1	0	1	0	1	0	0	0	0	9673	1464	51	0	3041	0	MN1	22	28195603	In_Frame_Del	DEL	TGC	TCGA-IK-7675-01A-11D-2086-08		28195603	23108963	46	11803			2	28		2	2	23	N	TGC_GCT	3.624346e-05
MN1	4330	broad.mit.edu	37	chr22	28195625	28195627	+	In_Frame_Del	DEL	GCT	GCT	-																															ctgctgctgctgctgctgggGctgctgctgctgctggggct																										TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr22:28195625_28195627delGCT	uc003adj.3	-	0	1860_1862	c.905_907delAGC	c.(904-909)cagccc>ccc	p.Q302del		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	302	Poly-Gln.						binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						tgctgctggggctgctgctgctg	0.66			T	ETV6	"AML, meningioma"								2	4	---	---	---	---						-	28195627	GCT	-	28195625	7	5	273	1	0	1	0	1	0	0	0	0	9673	1203	42	0	3063	0	MN1	22	28195625	In_Frame_Del	DEL	GCT	TCGA-IK-7675-01A-11D-2086-08	22	28195625	23108941	47	11804			2	28		2	2	23	N	TGC_GCT	3.624346e-05
TUBGCP6	85378	broad.mit.edu	37	chr22	50659212	50659212	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaagctgatgctggcatcAgacacgtgtccatgggtgtt	8	10	12	11	1	1	2	1	1	0	1	2	2	2	2	2	2	2	4	2	2	1	1	rs141527317		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr22:50659212A>G	uc003bkb.1	-	15	4088	c.3576T>C	c.(3574-3576)tcT>tcC	p.S1192S	TUBGCP6_uc003bka.1_Silent_p.S279S|TUBGCP6_uc010har.1_Silent_p.S1184S|TUBGCP6_uc010has.1_Non-coding_Transcript	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	1192	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCTGGCATCAGACACGTGTC	0.617													6	128					0	0	1	0	0	G	50659212	A	G	50659212	2	3	273	1	0	0	0	0	0	0	0	1	16767	175	7	4		4	TUBGCP6	22	50659212	Silent	SNP	A	TCGA-IK-7675-01A-11D-2086-08	22463587	50659212	645354	48	11805											
FANCB	2187	broad.mit.edu	37	chrX	14863149	14863149	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttactgaatgttaaaagtgGtgaaagagatgttacagcag	15	12	11	3	0	0	3	0	2	0	1	0	4	0	3	0	1	3	3	0	1	6	4			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chrX:14863149G>A	uc004cwg.1	-	7	2024	c.1756C>T	c.(1756-1758)Cca>Tca	p.P586S	FANCB_uc004cwh.1_Missense_Mutation_p.P586S	NM_001018113	NP_689846	Q8NB91	FANCB_HUMAN	Homo sapiens Fanconi anemia, complementation group B (FANCB), transcript variant 1, mRNA.	586					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					GTTAAAAGTGGTGAAAGAGAT	0.388								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				78	13					0	0	1	0	0	A	14863149	G	A	14863149	3	1	273	1	0	0	0	0	1	0	0	0	5663	1261	44	3	835	3	FANCB	23	14863149	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08		14863149	140407411	49	11806											
GRPR	2925	broad.mit.edu	37	chrX	16170454	16170454	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctgctggctccccaatCatgtcatctacctgtaccgc	6	12	6	17	1	4	0	2	0	2	0	5	0	5	0	5	1	3	3	5	1	3	3			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chrX:16170454C>A	uc004cxj.3	+	2	1494	c.841C>A	c.(841-843)Cat>Aat	p.H281N		NM_005314	NP_005305	P30550	GRPR_HUMAN	Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA.	281					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					GCTCCCCAATCATGTCATCTA	0.547													149	19					4.26566e-80	4.79887e-80	1	1	0	A	16170454	C	A	16170454	3	1	273	1	0	0	0	0	1	0	0	0	6808	826	29	5	851	5	GRPR	23	16170454	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08	1307305	16170454	139100106	50	11807											
ATRX	546	broad.mit.edu	37	chrX	76937611	76937615	+	Frame_Shift_Del	DEL	CTTTT	CTTTT	-																															ttttatctcttatttttttaCttttcttttctccatcagtt																										TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chrX:76937611_76937615delCTTTT	uc004ecp.4	-	8	3365_3369	c.3133_3137delAAAAG	c.(3133-3138)aaaagtfs	p.K1045fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K1007fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K830fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K977fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K1016fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K990fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1045					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TATTTTTTTACTTTTCTTTTCTCCA	0.337			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						35	19	---	---	---	---						-	76937615	CTTTT	-	76937611	7	5	273	1	0	1	0	1	0	0	0	0	1208	565	20	0	4449	0	ATRX	23	76937611	Frame_Shift_Del	DEL	CTTTT	TCGA-IK-7675-01A-11D-2086-08	60767157	76937611	78332949	51	11808											
HFM1	164045	broad.mit.edu	37	chr1	91781979	91781980	+	Frame_Shift_Ins	INS	-	-	T																															ccttgcatctgtctcttctaINStttttttaaaggaagtcaaa																										TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr1:91781979_91781980insT	uc001doa.4	-	25	2965_2966	c.2866_2867insA	c.(2866-2868)atafs	p.I956fs	HFM1_uc009wdb.3_Non-coding_Transcript|HFM1_uc010osu.2_Frame_Shift_Ins_p.I635fs|HFM1_uc001dob.4_Frame_Shift_Ins_p.I144fs|HFM1_uc010osv.1_Frame_Shift_Ins_p.I640fs	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	956	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TGTCTCTTCTATTTTTTTAAAG	0.292													29	20	---	---	---	---						T	91781980	-	T	91781979	7	5	274	1	0	1	1	0	0	0	0	0	7083	449	16	0	1496	0	HFM1	1	91781979	Frame_Shift_Ins	INS	-	TCGA-IK-8125-01A-11D-2253-08		91781979	157468642	1	11809											
FAM40A	85369	broad.mit.edu	37	chr1	110584240	110584240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggctgagtggaggaccatgCggcagaccttcagagccgag	10	5	16	10	2	1	3	1	1	0	2	1	6	1	5	3	4	2	2	3	4	0	1			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr1:110584240C>T	uc001dza.1	+	6	752	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W	FAM40A_uc001dyz.1_Missense_Mutation_p.R150W|FAM40A_uc009wfp.1_Missense_Mutation_p.R69W	NM_033088	NP_149079	Q5VSL9	FA40A_HUMAN	Homo sapiens family with sequence similarity 40, member A (FAM40A), mRNA.	245						nucleus	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)	23		all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137)		GAGGACCATGCGGCAGACCTT	0.592													3	31					0	0	1	0	0	T	110584240	C	T	110584240	3	4	274	1	0	0	0	0	1	0	0	0	5560	759	27	1	759	1	FAM40A	1	110584240	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	18802261	110584240	138666381	2	11810											
KPRP	448834	broad.mit.edu	37	chr1	152733157	152733157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgcagccctcctggggcGcctcctgccctgagctgagg	3	6	14	18	2	0	2	0	2	0	0	2	2	2	2	6	3	3	2	6	3	0	0			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr1:152733157G>A	uc001fal.1	+	1	1151	c.1093G>A	c.(1093-1095)Gcc>Acc	p.A365T	KPRP_uc021ozf.1_Missense_Mutation_p.A365T	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	365	Pro-rich.					cytoplasm		p.A365T(2)|p.G364G(2)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCCTGGGGCGCCTCCTGCCC	0.662													13	75					0	0	1	0	0	A	152733157	G	A	152733157	3	1	274	1	0	0	0	0	1	0	0	0	8436	1087	38	1	1095	1	KPRP	1	152733157	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	42148917	152733157	96517464	3	11811											
CHRM3	1131	broad.mit.edu	37	chr1	240070879	240070879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcggcagctacaatgtttCtcgagcagctggcaatttct	8	14	9	10	2	2	0	0	0	2	0	4	1	2	0	0	2	4	6	0	2	3	4			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr1:240070879C>T	uc021plc.1	+	0	128	c.128C>T	c.(127-129)tCt>tTt	p.S43F	CHRM3_uc001hyp.3_Missense_Mutation_p.S43F	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	43					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.S43Y(2)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TACAATGTTTCTCGAGCAGCT	0.562													6	108					0	0	1	0	0	T	240070879	C	T	240070879	3	4	274	1	0	0	0	0	1	0	0	0	3378	913	32	3	130	3	CHRM3	1	240070879	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	87337722	240070879	9179742	4	11812											
THSD7B	80731	broad.mit.edu	37	chr2	137814593	137814593	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagccttaaggttggaccatGgagtaaatgcagactgcctc	11	10	11	9	0	0	1	0	0	0	1	1	3	0	3	3	3	3	3	3	3	4	4			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr2:137814593G>A	uc002tva.1	+	1	650	c.650G>A	c.(649-651)tGg>tAg	p.W217*	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Nonsense_Mutation_p.W107*	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTTGGACCATGGAGTAAATGC	0.413													37	55					0	0	1	0	0	A	137814593	G	A	137814593	4	1	274	1	0	0	0	0	0	1	0	0	15877	1357	47	3	656	3	THSD7B	2	137814593	Nonsense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08		137814593	105384780	5	11813											
TTN	7273	broad.mit.edu	37	chr2	179634978	179634978	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacagtgtcatgggaaacaCtaacttcaaaggcaacagtg	16	7	10	8	0	2	0	2	0	0	0	2	2	2	1	0	2	4	1	0	2	5	2			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr2:179634978C>G	uc021vsy.1	-	35	8675	c.8450G>C	c.(8449-8451)aGt>aCt	p.S2817T	TTN_uc021vsz.1_Missense_Mutation_p.S2771T|TTN_uc021vta.1_Missense_Mutation_p.S2771T|TTN_uc021vtb.1_Missense_Mutation_p.S2771T|TTN_uc002unb.2_Missense_Mutation_p.S2817T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2817							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGGGAAACACTAACTTCAAA	0.408													8	84					0	0	1	0	0	G	179634978	C	G	179634978	3	3	274	1	0	0	0	0	1	0	0	0	16732	565	20	5	102846	5	TTN	2	179634978	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	41820385	179634978	63564395	6	11814											
CCDC141	285025	broad.mit.edu	37	chr2	179720137	179720137	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcttgtaatctgtcacaacTttgtcaaagtcatccacatg	11	15	5	10	0	5	0	3	0	2	0	6	0	6	0	1	0	1	1	1	0	3	4			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr2:179720137T>G	uc002une.2	-	18	3115	c.2997A>C	c.(2995-2997)aaA>aaC	p.K999N	CCDC141_uc002unf.1_Missense_Mutation_p.K478N	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	424							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTGTCACAACTTTGTCAAAGT	0.353													4	35					0	0	1	0	0	G	179720137	T	G	179720137	3	3	274	1	0	0	0	0	1	0	0	0	2775	1606	56	5	1375	5	CCDC141	2	179720137	Missense_Mutation	SNP	T	TCGA-IK-8125-01A-11D-2253-08	85159	179720137	63479236	7	11815											
MYO1B	4430	broad.mit.edu	37	chr2	192257829	192257829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagaagacctgaggaagcaaCgcctggaggacttggccact	12	6	13	10	1	0	3	0	1	0	2	0	6	0	6	3	4	2	1	3	4	4	2			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr2:192257829C>T	uc010fsg.2	+	19	2362	c.2107C>T	c.(2107-2109)Cgc>Tgc	p.R703C	MYO1B_uc002usq.2_Missense_Mutation_p.R703C|MYO1B_uc002usr.2_Missense_Mutation_p.R703C|MYO1B_uc002usu.2_5'UTR	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	703						myosin complex	ATP binding|actin 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)			GAGGAAGCAACGCCTGGAGGA	0.413													3	50					0	0	1	0	0	T	192257829	C	T	192257829	3	4	274	1	0	0	0	0	1	0	0	0	10069	536	19	1	2181	1	MYO1B	2	192257829	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	12537692	192257829	50941544	8	11816											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								16	49					0	0	1	0	0	T	209113112	C	T	209113112	3	4	274	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	16855283	209113112	34086261	9	11817											
NGEF	25791	broad.mit.edu	37	chr2	233759484	233759484	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgctcactgacagccagcAcgtccaggacgttggagaag	11	5	12	13	3	1	2	1	1	0	1	2	4	2	3	3	2	2	3	3	2	1	1			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr2:233759484A>G	uc002vts.2	-	5	1219	c.971T>C	c.(970-972)gTg>gCg	p.V324A	NGEF_uc010zmm.1_Missense_Mutation_p.V47A|NGEF_uc010fyg.1_Missense_Mutation_p.V232A|NGEF_uc002vtt.2_Missense_Mutation_p.V232A	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA.	324	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GACAGCCAGCACGTCCAGGAC	0.602													30	64					0	0	1	0	0	G	233759484	A	G	233759484	3	3	274	1	0	0	0	0	1	0	0	0	10394	159	6	3	1201	3	NGEF	2	233759484	Missense_Mutation	SNP	A	TCGA-IK-8125-01A-11D-2253-08	24646372	233759484	9439889	10	11818											
FLNB	2317	broad.mit.edu	37	chr3	58097875	58097875	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcacagtatatctttccaGgtgtggaaaatgggaaaccg	12	11	10	8	1	2	0	1	0	1	0	3	2	3	2	2	3	1	1	2	3	5	4			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr3:58097875G>A	uc003djj.2	+	18	2741	c.2576_splice	c.e18-1	p.G859_splice	FLNB_uc010hne.2_Splice_Site_p.G859_splice|FLNB_uc003djk.2_Splice_Site_p.G859_splice|FLNB_uc010hnf.2_Splice_Site_p.G859_splice|FLNB_uc003djl.2_Splice_Site_p.G690_splice|FLNB_uc003djm.2_Splice_Site_p.G690_splice	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	859					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TATCTTTCCAGGTGTGGAAAA	0.522													66	106					0	0	1	0	0	A	58097875	G	A	58097875	5	1	274	1	0	0	0	0	0	0	1	0	5934	1014	35	3	2645	3	FLNB	3	58097875	Splice_Site	SNP	G	TCGA-IK-8125-01A-11D-2253-08		58097875	139924555	11	11819											
CRYBG3	131544	broad.mit.edu	37	chr3	97596597	97596597	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacattttaccctgatgacCaggagagcgttggaatttct	10	13	9	9	1	2	3	1	2	1	1	2	5	2	4	2	2	2	1	2	2	2	4			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr3:97596597C>T	uc003drx.3	+	0	779	c.715C>T	c.(715-717)Cag>Tag	p.Q239*	CRYBG3_uc021xbn.1_Nonsense_Mutation_p.Q239*					RecName: Full=Beta/gamma crystallin domain-containing protein 3;											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						CCCTGATGACCAGGAGAGCGT	0.468													10	20					0	0	1	0	0	T	97596597	C	T	97596597	4	4	274	1	0	0	0	0	0	1	0	0	3913	595	21	3	717	3	CRYBG3	3	97596597	Nonsense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	39498722	97596597	100425833	12	11820											
ABI3BP	25890	broad.mit.edu	37	chr3	100523693	100523693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttggttttgcagtaacacGctggggcaccttaggaactg	8	13	12	8	1	0	0	0	0	0	0	0	1	0	1	1	4	3	5	1	4	3	6			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr3:100523693G>A	uc003dun.3	-	19	1775	c.1690C>T	c.(1690-1692)Cgt>Tgt	p.R564C	ABI3BP_uc003duj.3_Missense_Mutation_p.R119C|ABI3BP_uc003duk.3_Missense_Mutation_p.R248C|ABI3BP_uc003dul.3_Missense_Mutation_p.R369C|ABI3BP_uc011bhd.2_Missense_Mutation_p.R518C|ABI3BP_uc003dum.3_5'UTR	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	564	Pro-rich.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GCAGTAACACGCTGGGGCACC	0.398													13	33					0	0	1	0	0	A	100523693	G	A	100523693	3	1	274	1	0	0	0	0	1	0	0	0	91	1087	38	1	1601	1	ABI3BP	3	100523693	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	2927096	100523693	97498737	13	11821											
ENAM	10117	broad.mit.edu	37	chr4	71508741	71508741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgccatatgaatcagaaaCtaatcagtcagaattaaagc	18	9	7	7	0	3	3	3	1	0	2	3	4	3	3	1	0	3	0	1	0	7	3			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr4:71508741C>T	uc011caw.1	+	8	1879	c.1598C>T	c.(1597-1599)aCt>aTt	p.T533I		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	533					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GAATCAGAAACTAATCAGTCA	0.413													27	52					0	0	1	0	0	T	71508741	C	T	71508741	3	4	274	1	0	0	0	0	1	0	0	0	5112	565	20	3	1628	3	ENAM	4	71508741	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08		71508741	119645535	14	11822											
NAF1	92345	broad.mit.edu	37	chr4	164050323	164050323	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaaatcctgaagtctccTgagataccatatgttctgag	13	11	9	8	0	2	3	0	3	2	1	4	5	3	4	3	1	1	1	3	1	5	3			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr4:164050323T>C	uc003iqj.3	-	7	1405	c.1211A>G	c.(1210-1212)cAg>cGg	p.Q404R	NAF1_uc010iqw.1_Intron	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN	Homo sapiens nuclear assembly factor 1 homolog (S. cerevisiae) (NAF1), transcript variant 1, mRNA.	404					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				TGAAGTCTCCTGAGATACCAT	0.458													9	42					0	0	1	0	0	C	164050323	T	C	164050323	3	2	274	1	0	0	0	0	1	0	0	0	10140	1580	55	4	418	4	NAF1	4	164050323	Missense_Mutation	SNP	T	TCGA-IK-8125-01A-11D-2253-08	92541582	164050323	27103953	15	11823											
FAT1	2195	broad.mit.edu	37	chr4	187521295	187521295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgctgacggatgtggcCaccaaaaaacacatagttat	13	9	8	11	1	0	1	0	1	0	0	1	2	1	2	3	2	2	2	3	2	5	2			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr4:187521295C>T	uc003izf.3	-	21	12048	c.11860G>A	c.(11860-11862)Ggc>Agc	p.G3954S		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	3954	Laminin G-like.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGGATGTGGCCACCAAAAAAC	0.483										HNSCC(5;0.00058)			5	41					0	0	1	0	0	T	187521295	C	T	187521295	3	4	274	1	0	0	0	0	1	0	0	0	5689	594	21	3	1930	3	FAT1	4	187521295	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	23470972	187521295	3632981	16	11824											
PCDHGC5	56097	broad.mit.edu	37	chr5	140783264	140783264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgctcaacggatttaccgaGttaaagtccttgagaacgtg	11	12	10	8	3	1	1	1	1	0	1	2	4	2	2	2	1	4	2	2	1	5	5			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr5:140783264G>A	uc003lkh.2	+	0	745	c.745G>A	c.(745-747)Gtt>Att	p.V249I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Missense_Mutation_p.V249I	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	249	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R248H(1)|p.R248R(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATTTACCGAGTTAAAGTCCT	0.537													4	72					0	0	1	0	0	A	140783264	G	A	140783264	3	1	274	1	0	0	0	0	1	0	0	0	11571	1029	36	3		3	PCDHGC5	5	140783264	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08		140783264	40131996	17	11825											
MAML1	9794	broad.mit.edu	37	chr5	179192669	179192669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ataaagaactgaagcaggagCctgtcgaagacctgccttgc	13	7	11	10	1	0	3	0	1	0	2	1	5	0	4	3	1	5	1	3	1	5	2			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr5:179192669C>T	uc003mkm.3	+	1	921	c.658C>T	c.(658-660)Cct>Tct	p.P220S	MAML1_uc003mkn.1_Missense_Mutation_p.P220S	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.	220					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAGCAGGAGCCTGTCGAAGA	0.517													4	40					0	0	1	0	0	T	179192669	C	T	179192669	3	4	274	1	0	0	0	0	1	0	0	0	9205	739	26	3	664	3	MAML1	5	179192669	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	38409405	179192669	1722591	18	11826											
FAM50B	26240	broad.mit.edu	37	chr6	3850550	3850550	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaccggctccgagaggagCtgcgccaagagtgggaggcg	10	3	18	10	4	0	3	0	0	0	3	1	6	1	5	3	4	3	2	3	4	2	0			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:3850550C>A	uc003mvu.3	+	1	617	c.505C>A	c.(505-507)Ctg>Atg	p.L169M	FAM50B_uc021ykt.1_Missense_Mutation_p.L169M	NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	Homo sapiens family with sequence similarity 50, member B (FAM50B), mRNA.	169						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CCGAGAGGAGCTGCGCCAAGA	0.687													6	25					1	1	1	1	0	A	3850550	C	A	3850550	3	1	274	1	0	0	0	0	1	0	0	0	5578	796	28	5	507	5	FAM50B	6	3850550	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08		3850550	167264517	19	11827											
NOTCH4	4855	broad.mit.edu	37	chr6	32166813	32166813	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagagagctccatgctctcgGcgtcgacgccggatgagctg	7	7	14	13	5	1	2	0	1	1	1	4	5	2	3	2	2	3	3	2	2	0	0			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:32166813G>A	uc003obb.3	-	23	4564	c.4425C>T	c.(4423-4425)cgC>cgT	p.R1475R	NOTCH4_uc011dpt.2_5'Flank|NOTCH4_uc003oba.3_Silent_p.R138R|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc011dpw.1_5'Flank	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1475	Poly-Arg.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.R1474*(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CATGCTCTCGGCGTCGACGCC	0.677													32	41					0	0	1	0	0	A	32166813	G	A	32166813	2	1	274	1	0	0	0	0	0	0	0	1	10551	1190	42	3		3	NOTCH4	6	32166813	Silent	SNP	G	TCGA-IK-8125-01A-11D-2253-08	28316263	32166813	138948254	20	11828											
NOTCH4	4855	broad.mit.edu	37	chr6	32190325	32190325	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagcactgtgggcggccCgaggcctggatgtggcagcg	6	5	19	11	3	0	0	0	0	0	0	0	3	0	2	2	6	2	2	2	6	0	0			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:32190325C>T	uc003obb.3	-	2	553	c.414G>A	c.(412-414)tcG>tcA	p.S138S	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Silent_p.S138S	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	138	EGF-like 3.				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	p.A137T(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GTGGGCGGCCCGAGGCCTGGA	0.647													5	57					0	0	1	0	0	T	32190325	C	T	32190325	2	4	274	1	0	0	0	0	0	0	0	1	10551	639	23	2		2	NOTCH4	6	32190325	Silent	SNP	C	TCGA-IK-8125-01A-11D-2253-08	23512	32190325	138924742	21	11829											
PNPLA1	285848	broad.mit.edu	37	chr6	36262065	36262065	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcagcaggacatctgtccCcgggactgcccggccatctt	6	7	13	15	2	2	0	0	0	2	0	3	2	3	2	4	4	2	2	4	4	0	1			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:36262065C>A	uc010jwf.2	+	3	603	c.603C>A	c.(601-603)ccC>ccA	p.P201P	PNPLA1_uc010jwe.1_Silent_p.P115P|PNPLA1_uc003olw.1_Silent_p.P106P	NM_001145717	NP_775947	Q8N8W4	PLPL1_HUMAN	Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA.	201					lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						ACATCTGTCCCCGGGACTGCC	0.607													22	112					9.57634e-11	9.70575e-11	1	1	0	A	36262065	C	A	36262065	2	1	274	1	0	0	0	0	0	0	0	1	12164	610	22	5		5	PNPLA1	6	36262065	Silent	SNP	C	TCGA-IK-8125-01A-11D-2253-08	4071740	36262065	134853002	22	11830											
PPP2R5D	5528	broad.mit.edu	37	chr6	42974286	42974286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcccagcaatagcacgcCgccccccacgcagctcagca	9	3	9	20	4	1	0	1	0	0	0	2	0	2	0	5	0	4	5	5	0	2	1			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:42974286C>T	uc003oth.3	+	2	277	c.191C>T	c.(190-192)cCg>cTg	p.P64L	MEA1_uc010jyc.1_Intron|PPP2R5D_uc010jyd.3_Intron|PPP2R5D_uc011dva.2_5'UTR|PPP2R5D_uc003oti.3_5'UTR|PPP2R5D_uc021yzq.1_Missense_Mutation_p.P64L|PPP2R5D_uc003otj.3_5'UTR	NM_006245	NP_006236	Q14738	2A5D_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', delta (PPP2R5D), transcript variant 1, mRNA.	64					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AATAGCACGCCGCCCCCCACG	0.622													58	97					0	0	1	0	0	T	42974286	C	T	42974286	3	4	274	1	0	0	0	0	1	0	0	0	12395	652	23	2	201	2	PPP2R5D	6	42974286	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	6712221	42974286	128140781	23	11831											
TTBK1	84630	broad.mit.edu	37	chr6	43251409	43251409	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaggagggggcccgagcGcccctggagaacggcctcgc	6	3	19	13	4	0	1	0	0	0	1	1	5	0	3	4	6	2	0	4	6	1	0			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:43251409G>A	uc003ouq.1	+	13	3210	c.2931G>A	c.(2929-2931)gcG>gcA	p.A977A	TTBK1_uc021yzs.1_Silent_p.A265A	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	977						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.R976*(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGGCCCGAGCGCCCCTGGAGA	0.697													25	31					0	0	1	0	0	A	43251409	G	A	43251409	2	1	274	1	0	0	0	0	0	0	0	1	16673	1074	38	1		1	TTBK1	6	43251409	Silent	SNP	G	TCGA-IK-8125-01A-11D-2253-08	277123	43251409	127863658	24	11832											
CRIP3	401262	broad.mit.edu	37	chr6	43275627	43275627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcttgtggcagtatggcctcCcattgtgctgggcacaagca	7	10	13	11	0	0	0	0	0	0	0	1	0	1	0	2	3	2	6	2	3	2	3			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:43275627C>T	uc010jyn.2	-	2	146	c.146G>A	c.(145-147)gGg>gAg	p.G49E	CRIP3_uc003ouu.1_Missense_Mutation_p.G49E	NM_206922	NP_996805	Q6Q6R5	CRIP3_HUMAN	Homo sapiens cysteine-rich protein 3 (CRIP3), mRNA.	49	LIM zinc-binding 1.					cytoplasm	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GTATGGCCTCCCATTGTGCTG	0.607													3	30					0	0	1	0	0	T	43275627	C	T	43275627	3	4	274	1	0	0	0	0	1	0	0	0	3876	623	22	3	492	3	CRIP3	6	43275627	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	24218	43275627	127839440	25	11833											
ZNF292	23036	broad.mit.edu	37	chr6	87943087	87943087	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccatcttgttggatatgAgaattaaacatctaatcaaa	15	13	6	7	0	3	1	1	1	2	1	4	3	4	2	1	1	1	1	1	1	6	5			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:87943087A>G	uc003plm.4	+	4	624	c.583A>G	c.(583-585)Aga>Gga	p.R195G		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GTTGGATATGAGAATTAAACA	0.308													8	21					0	0	1	0	0	G	87943087	A	G	87943087	3	3	274	1	0	0	0	0	1	0	0	0	17823	296	11	4	601	4	ZNF292	6	87943087	Missense_Mutation	SNP	A	TCGA-IK-8125-01A-11D-2253-08	44667460	87943087	83171980	26	11834											
KIAA1147	57189	broad.mit.edu	37	chr7	141362626	141362626	+	Frame_Shift_Del	DEL	T	T	-																															ctccaacaaagtctgaaataTccggttgttttgttctagga																										TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr7:141362626delT	uc003vwk.3	-	8	1198	c.1198delA	c.(1198-1200)atafs	p.I400fs		NM_001080392	NP_001073861	A4D1U4	LCHN_HUMAN	Homo sapiens KIAA1147 (KIAA1147), mRNA.	400										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					GTCTGAAATATCCGGTTGTTT	0.502													10	3	---	---	---	---						-	141362626	T	-	141362626	7	5	274	1	0	1	0	1	0	0	0	0	8210	1435	50	0	173	0	KIAA1147	7	141362626	Frame_Shift_Del	DEL	T	TCGA-IK-8125-01A-11D-2253-08		141362626	17776037	27	11835											
RUNX1T1	862	broad.mit.edu	37	chr8	92972658	92972658	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgatggtgcttctcccagtCtttgtgctggcaaaatgagc	7	13	12	9	0	2	2	0	2	2	0	3	2	2	2	1	2	3	3	1	2	2	2			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr8:92972658C>G	uc022axs.1	-	11	1991	c.1804G>C	c.(1804-1806)Gac>Cac	p.D602H	RUNX1T1_uc003yfc.2_Missense_Mutation_p.D516H|RUNX1T1_uc010mam.3_Missense_Mutation_p.D516H|RUNX1T1_uc003yfe.2_Missense_Mutation_p.D506H|RUNX1T1_uc003yfd.3_Missense_Mutation_p.D543H|RUNX1T1_uc022axo.1_Missense_Mutation_p.D543H|RUNX1T1_uc010mao.3_Missense_Mutation_p.D516H|RUNX1T1_uc011lgi.2_Missense_Mutation_p.D554H|RUNX1T1_uc022axp.1_Missense_Mutation_p.D543H|RUNX1T1_uc022axq.1_Missense_Mutation_p.D543H|RUNX1T1_uc022axr.1_Missense_Mutation_p.D543H|RUNX1T1_uc022axt.1_Missense_Mutation_p.D543H|RUNX1T1_uc022axu.1_Missense_Mutation_p.D523H|RUNX1T1_uc022axv.1_Missense_Mutation_p.D543H|RUNX1T1_uc010man.2_Missense_Mutation_p.D168H|RUNX1T1_uc003yfb.2_Missense_Mutation_p.D506H	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	543					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCTCCCAGTCTTTGTGCTGG	0.567													9	36					0	0	1	0	0	G	92972658	C	G	92972658	3	3	274	1	0	0	0	0	1	0	0	0	13747	913	32	5	191	5	RUNX1T1	8	92972658	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08		92972658	53391364	28	11836											
PLEC	5339	broad.mit.edu	37	chr8	144995732	144995732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caccacaccctccttcacagCctcgttgacggtcagccgcc	7	7	7	20	3	2	1	2	1	0	0	4	1	3	1	6	1	2	1	6	1	0	2			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr8:144995732C>T	uc003zaf.1	-	31	8838	c.8668G>A	c.(8668-8670)Gct>Act	p.A2890T	PLEC_uc003zab.1_Missense_Mutation_p.A2753T|PLEC_uc003zac.1_Missense_Mutation_p.A2757T|PLEC_uc003zad.2_Missense_Mutation_p.A2753T|PLEC_uc003zae.1_Missense_Mutation_p.A2721T|PLEC_uc003zag.1_Missense_Mutation_p.A2731T|PLEC_uc003zah.2_Missense_Mutation_p.A2739T|PLEC_uc003zaj.2_Missense_Mutation_p.A2780T	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	2890	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCCTTCACAGCCTCGTTGACG	0.687													26	36					0	0	1	0	0	T	144995732	C	T	144995732	3	4	274	1	0	0	0	0	1	0	0	0	12052	739	26	3	5390	3	PLEC	8	144995732	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	52023074	144995732	1368290	29	11837											
GNE	10020	broad.mit.edu	37	chr9	36249251	36249251	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttcaaagaactcaggttcGgttttaatgccaaacatgat	14	12	8	7	1	2	2	2	1	0	1	3	2	2	2	1	2	3	3	1	2	4	4	rs147290887		TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr9:36249251G>A	uc010mlh.3	-	1	323	c.102C>T	c.(100-102)acC>acT	p.T34T	GNE_uc010mlg.3_Silent_p.T34T|GNE_uc011lpl.2_Intron|GNE_uc010mli.3_Silent_p.T65T|GNE_uc010mlj.3_Intron	NM_005476	NP_005467	Q9Y223	GLCNE_HUMAN	Homo sapiens glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE), transcript variant 2, mRNA.	34					N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process|cell adhesion|lipopolysaccharide biosynthetic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			ACTCAGGTTCGGTTTTAATGC	0.408													8	52					0	0	1	0	0	A	36249251	G	A	36249251	2	1	274	1	0	0	0	0	0	0	0	1	6522	1103	39	2		2	GNE	9	36249251	Silent	SNP	G	TCGA-IK-8125-01A-11D-2253-08		36249251	104964180	30	11838											
FPGS	2356	broad.mit.edu	37	chr9	130570869	130570869	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgtccgatgctggaggcCctcgaggaaggggggccgcc	5	6	18	12	3	0	0	0	0	0	0	2	4	1	2	4	6	1	1	4	6	1	0			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr9:130570869C>G	uc004bsg.1	+	9	905	c.855C>G	c.(853-855)gcC>gcG	p.A285A	FPGS_uc004bsh.1_Silent_p.A102A|FPGS_uc011mal.1_Silent_p.A259A|FPGS_uc004bsi.1_Silent_p.A235A	NM_004957	NP_004948	Q05932	FOLC_HUMAN	Homo sapiens folylpolyglutamate synthase (FPGS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	285					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	TGCTGGAGGCCCTCGAGGAAG	0.687													17	20					0	0	1	0	0	G	130570869	C	G	130570869	2	3	274	1	0	0	0	0	0	0	0	1	6036	610	22	5		5	FPGS	9	130570869	Silent	SNP	C	TCGA-IK-8125-01A-11D-2253-08	94321618	130570869	10642562	31	11839											
NOTCH1	4851	broad.mit.edu	37	chr9	139412597	139412597	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctggcacctacccagcgagCactcatccacgtcctggctg	7	7	10	17	2	1	0	1	0	0	0	3	1	3	0	4	2	3	4	4	2	1	1			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr9:139412597C>A	uc004chz.3	-	6	1247	c.1247G>T	c.(1246-1248)tGc>tTc	p.C416F		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	416	EGF-like 11; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.E415D(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACCCAGCGAGCACTCATCCAC	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			6	6					5.68852e-11	5.84437e-11	1	1	0	A	139412597	C	A	139412597	3	1	274	1	0	0	0	0	1	0	0	0	10547	710	25	5	6532	5	NOTCH1	9	139412597	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	8841728	139412597	1800834	32	11840											
KIAA1217	56243	broad.mit.edu	37	chr10	24832988	24832988	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccggaactaaaacagggAagaagactttgcaagtggta	16	6	12	7	1	0	2	0	0	0	2	0	4	0	4	1	3	3	3	1	3	7	3			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr10:24832988A>T	uc001iru.4	+	18	5192	c.4789A>T	c.(4789-4791)Aag>Tag	p.K1597*	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Nonsense_Mutation_p.K1280*|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Nonsense_Mutation_p.K433*	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1597					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TAAAACAGGGAAGAAGACTTT	0.463													11	91					0	0	1	0	0	T	24832988	A	T	24832988	4	4	274	1	0	0	0	0	0	1	0	0	8216	247	9	5	4863	5	KIAA1217	10	24832988	Nonsense_Mutation	SNP	A	TCGA-IK-8125-01A-11D-2253-08		24832988	110701759	33	11841											
AGAP5	729092	broad.mit.edu	37	chr10	75457306	75457306	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttaccttcaggcatctcctGgtcacgaatgtggtgcatgt	7	13	10	11	1	3	0	2	0	1	0	4	1	3	0	2	3	2	2	2	3	2	2			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr10:75457306G>A	uc009xri.3	-	0	249	c.208C>T	c.(208-210)Cag>Tag	p.Q70*	AGAP5_uc001juu.4_Nonsense_Mutation_p.Q31*	NM_001144000	NP_001137472	A6NIR3	AGAP5_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 (AGAP5), mRNA.	70					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						GGCATCTCCTGGTCACGAATG	0.592													13	172					0	0	1	0	0	A	75457306	G	A	75457306	4	1	274	1	0	0	0	0	0	1	0	0	371	1357	47	3	1884	3	AGAP5	10	75457306	Nonsense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	50624318	75457306	60077441	34	11842											
HELLS	3070	broad.mit.edu	37	chr10	96352241	96352241	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacttcagcaggcttgatggGtccatgtcttactcagagag	10	11	11	9	0	3	2	2	1	1	1	4	3	4	2	1	2	3	2	1	2	2	3			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr10:96352241G>A	uc009xuo.3	+	17	2184	c.2079G>A	c.(2077-2079)ggG>ggA	p.G693G	HELLS_uc001kjs.3_Silent_p.G631G|HELLS_uc001kjt.3_Silent_p.G647G|HELLS_uc009xul.3_Silent_p.G549G|HELLS_uc009xum.3_Silent_p.G517G|HELLS_uc009xun.3_Silent_p.G523G|HELLS_uc001kju.3_Silent_p.G286G|HELLS_uc009xup.3_Non-coding_Transcript|HELLS_uc009xuq.3_Silent_p.G509G|HELLS_uc009xur.3_Non-coding_Transcript	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	Homo sapiens helicase, lymphoid-specific (HELLS), mRNA.	647	Helicase C-terminal.				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GGCTTGATGGGTCCATGTCTT	0.343													8	31					0	0	1	0	0	A	96352241	G	A	96352241	2	1	274	1	0	0	0	0	0	0	0	1	7046	1248	44	3		3	HELLS	10	96352241	Silent	SNP	G	TCGA-IK-8125-01A-11D-2253-08	20894935	96352241	39182506	35	11843											
SLIT1	6585	broad.mit.edu	37	chr10	98764460	98764460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccctacctgtagatggCagagctggggtagctgcctg	8	8	15	10	0	0	2	0	0	0	2	0	3	0	2	3	3	5	5	3	3	4	3			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr10:98764460C>T	uc001kmw.2	-	32	3952	c.3700G>A	c.(3700-3702)Gcc>Acc	p.A1234T		NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	1234	Laminin G-like.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CTGTAGATGGCAGAGCTGGGG	0.602													14	49					0	0	1	0	0	T	98764460	C	T	98764460	3	4	274	1	0	0	0	0	1	0	0	0	14739	710	25	3	924	3	SLIT1	10	98764460	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	2412219	98764460	36770287	36	11844											
DIXDC1	85458	broad.mit.edu	37	chr11	111835363	111835363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacctgcgacaagatctcCgggatggggtgatcctggca	9	7	15	10	2	1	2	0	1	1	1	3	5	2	4	3	5	1	1	3	5	1	0			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr11:111835363C>T	uc001pml.3	+	1	448	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W	DIXDC1_uc001pmj.3_Missense_Mutation_p.R44W|DIXDC1_uc001pmk.3_Missense_Mutation_p.R51W	NM_001037954	NP_001033043	Q155Q3	DIXC1_HUMAN	Homo sapiens DIX domain containing 1 (DIXDC1), transcript variant 1, mRNA.	51	CH.				Wnt receptor signaling pathway|multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		ACAAGATCTCCGGGATGGGGT	0.517													7	9					0	0	1	0	0	T	111835363	C	T	111835363	3	4	274	1	0	0	0	0	1	0	0	0	4541	643	23	2	157	2	DIXDC1	11	111835363	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08		111835363	23171153	37	11845											
TTC12	54970	broad.mit.edu	37	chr11	113215006	113215006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgcagaggaaaaccagcGtgtgctagtgatacaccatg	12	10	11	8	1	0	2	0	1	0	1	0	3	0	3	2	1	5	2	2	1	4	4			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr11:113215006G>A	uc001pnv.3	+	12	1121	c.1016G>A	c.(1015-1017)cGt>cAt	p.R339H	TTC12_uc001pnu.3_Missense_Mutation_p.R333H|TTC12_uc001pnw.3_Non-coding_Transcript|TTC12_uc001pnx.3_Missense_Mutation_p.R183H	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	Homo sapiens tetratricopeptide repeat domain 12 (TTC12), mRNA.	333							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		GAAAACCAGCGTGTGCTAGTG	0.532													69	113					0	0	1	0	0	A	113215006	G	A	113215006	3	1	274	1	0	0	0	0	1	0	0	0	16676	1145	40	1	1044	1	TTC12	11	113215006	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	1379643	113215006	21791510	38	11846											
GLB1L2	89944	broad.mit.edu	37	chr11	134228963	134228988	+	Frame_Shift_Del	DEL	GACCGTGGCATTGTGGAACTGCTCCT	GACCGTGGCATTGTGGAACTGCTCCT	-																															ttcccccacaggcactggagGaccgtggcattgtggaactg																										TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr11:134228963_134228988delGACCGTGGCATTGTGGAACTGCTCCT	uc001qhp.3	+	6	849_874	c.661_686delGACCGTGGCATTGTGGAACTGCTCCT	c.(661-687)gaccgtggcattgtggaactgctcctgfs	p.D221fs	GLB1L2_uc009zdg.1_Non-coding_Transcript	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA.	221					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.L228I(2)|p.V225L(2)|p.R222H(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GGCACTGGAGGACCGTGGCATTGTGGAACTGCTCCTGACTTCAGAC	0.606													16	204	---	---	---	---						-	134228988	GACCGTGGCATTGTGGAACTGCTCCT	-	134228963	7	5	274	1	0	1	0	1	0	0	0	0	6429	1174	41	0	687	0	GLB1L2	11	134228963	Frame_Shift_Del	DEL	GACCGTGGCATTGTGGAACTGCTCCT	TCGA-IK-8125-01A-11D-2253-08	21013957	134228963	777553	39	11847											
MAP3K12	7786	broad.mit.edu	37	chr12	53877509	53877509	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgatgtccagggcgtgtcTgcaacgggcagaaaggttcc	8	8	14	11	2	1	2	0	1	1	1	3	2	3	2	3	3	2	3	3	3	2	1			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr12:53877509T>A	uc001sdn.2	-	9	1630	c.1359_splice	c.e9-1	p.R453_splice	MAP3K12_uc001sdm.2_Splice_Site_p.R420_splice	NM_001193511	NP_001180440	Q12852	M3K12_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 12 (MAP3K12), transcript variant 1, mRNA.	420	Leucine-zipper 2.				JNK cascade|histone phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						AGGGCGTGTCTGCAACGGGCA	0.507													8	50					0	0	1	0	0	A	53877509	T	A	53877509	5	1	274	1	0	0	0	0	0	0	1	0	9246	1594	55	5	1345	5	MAP3K12	12	53877509	Splice_Site	SNP	T	TCGA-IK-8125-01A-11D-2253-08		53877509	79974386	40	11848											
SMUG1	23583	broad.mit.edu	37	chr12	54577582	54577582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatgatgcccacaggctccGaaaactgcagctggctcagc	11	6	11	13	1	1	2	1	1	0	1	2	3	2	2	2	2	5	4	2	2	2	0	rs149806805	byFrequency	TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr12:54577582G>A	uc001sfg.2	-	2	290	c.143C>T	c.(142-144)tCg>tTg	p.S48L	SMUG1_uc001sfa.1_5'Flank|SMUG1_uc009znf.2_Missense_Mutation_p.S48L|SMUG1_uc001sff.2_Missense_Mutation_p.S48L|SMUG1_uc001sfc.4_Missense_Mutation_p.S48L|SMUG1_uc001sfb.4_Missense_Mutation_p.S48L|SMUG1_uc001sfd.4_Missense_Mutation_p.S48L|SMUG1_uc021qyn.1_Missense_Mutation_p.S48L|SMUG1_uc001sfe.2_Missense_Mutation_p.S48L	NM_001243787	NP_001230716	Q53HV7	SMUG1_HUMAN	Homo sapiens single-strand-selective monofunctional uracil-DNA glycosylase 1 (SMUG1), transcript variant 2, mRNA.	48				S -> L (in Ref. 3; BAC03670).	depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity			kidney(1)|large_intestine(4)|lung(1)	6						CACAGGCTCCGAAAACTGCAG	0.597								Base excision repair (BER), DNA glycosylases					4	43					0	0	1	0	0	A	54577582	G	A	54577582	3	1	274	1	0	0	0	0	1	0	0	0	14818	1059	37	2	677	2	SMUG1	12	54577582	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	700073	54577582	79274313	41	11849											
TBX5	6910	broad.mit.edu	37	chr12	114793348	114793348	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcctcactttagctattgtCgctccactctggcaccatgc	6	12	8	15	1	2	0	1	0	1	0	4	0	3	0	3	2	2	3	3	2	2	4			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr12:114793348C>T	uc001tvo.3	-	8	2041	c.1546G>A	c.(1546-1548)Gac>Aac	p.D516N	TBX5_uc001tvp.3_Missense_Mutation_p.D516N|TBX5_uc001tvq.3_Missense_Mutation_p.D466N	NM_181486	NP_542448	Q99593	TBX5_HUMAN	Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.	516				PRTLSPHQYHSVHGVGMVPEWSDNS -> QGLYPLISTTLC TELAWCRVERQ (in Ref. 1; CAA70592).	cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TAGCTATTGTCGCTCCACTCT	0.517													7	45					0	0	1	0	0	T	114793348	C	T	114793348	3	4	274	1	0	0	0	0	1	0	0	0	15658	884	31	2	14	2	TBX5	12	114793348	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	60215766	114793348	19058547	42	11850											
TRPM1	4308	broad.mit.edu	37	chr15	31359319	31359319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgccccatggagcaattcCtatagcacaaacccggcctc	11	7	8	15	1	0	0	0	0	0	0	2	2	1	1	5	2	4	2	5	2	4	3			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr15:31359319C>T	uc021sia.1	-	4	930	c.616G>A	c.(616-618)Gga>Aga	p.G206R	TRPM1_uc010azy.3_Missense_Mutation_p.G80R|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.G189R|TRPM1_uc001zfm.3_Missense_Mutation_p.G167R|MIR211_uc010ubm.1_5'Flank|TRPM1_uc010ubn.1_5'Flank	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	167					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGAGCAATTCCTATAGCACAA	0.453													44	57					0	0	1	0	0	T	31359319	C	T	31359319	3	4	274	1	0	0	0	0	1	0	0	0	16582	690	24	3	4404	3	TRPM1	15	31359319	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08		31359319	71172073	43	11851											
SPPL2A	84888	broad.mit.edu	37	chr15	51017471	51017471	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaggcatgaggcacacaCtcattactgagaaatagatc	17	7	8	9	0	1	3	1	2	0	2	2	4	1	3	0	2	2	2	0	2	4	2			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr15:51017471C>G	uc001zyv.3	-	11	1376	c.1196G>C	c.(1195-1197)aGt>aCt	p.S399T		NM_032802	NP_116191	Q8TCT8	PSL2_HUMAN	Homo sapiens signal peptide peptidase-like 2A (SPPL2A), mRNA.	399						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		GAGGCACACACTCATTACTGA	0.313													36	79					0	0	1	0	0	G	51017471	C	G	51017471	3	3	274	1	0	0	0	0	1	0	0	0	15087	565	20	5	382	5	SPPL2A	15	51017471	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	19658152	51017471	51513921	44	11852											
UNC13C	440279	broad.mit.edu	37	chr15	54825250	54825250	+	Frame_Shift_Del	DEL	T	T	-																															gtgttaagatctcttatggaTtttttggacaaaacgtaagt																										TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr15:54825250delT	uc021smr.1	+	23	5676	c.5676delT	c.(5674-5676)gatfs	p.D1892fs	UNC13C_uc021sms.1_Frame_Shift_Del_p.D1894fs	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1894	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTCTTATGGATTTTTTGGACA	0.343													2	4	---	---	---	---						-	54825250	T	-	54825250	7	5	274	1	0	1	0	1	0	0	0	0	16983	1490	52	0	5776	0	UNC13C	15	54825250	Frame_Shift_Del	DEL	T	TCGA-IK-8125-01A-11D-2253-08	3807779	54825250	47706142	45	11853											
TPM1	7168	broad.mit.edu	37	chr15	63336271	63336271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaagaaactcaagggcaccGaagatgaactggacaaatac	20	4	9	8	1	1	3	1	1	0	2	1	5	1	4	1	2	3	1	1	2	8	1	rs104894505		TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr15:63336271G>A	uc002alm.3	+	2	477	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	TPM1_uc002alg.3_Missense_Mutation_p.E54K|TPM1_uc002alh.3_Missense_Mutation_p.E54K|TPM1_uc002ali.3_Missense_Mutation_p.E54K|TPM1_uc002alj.3_Intron|TPM1_uc002alk.3_Missense_Mutation_p.E54K|TPM1_uc002all.3_Intron|TPM1_uc010uie.2_Intron|TPM1_uc002alp.3_Missense_Mutation_p.E54K	NM_001018008	NP_001018008	P09493	TPM1_HUMAN	Homo sapiens tropomyosin 1 (alpha) (TPM1), transcript variant 6, mRNA.	54					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						CAAGGGCACCGAAGATGAACT	0.562													9	24					0	0	1	0	0	A	63336271	G	A	63336271	3	1	274	1	0	0	0	0	1	0	0	0	16402	1059	37	2	296	2	TPM1	15	63336271	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	8511021	63336271	39195121	46	11854											
NEO1	4756	broad.mit.edu	37	chr15	73428355	73428355	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaattgaagctcaagcagaGcttacagtgcaaggtatgta	15	9	10	7	0	1	2	1	1	0	1	1	2	1	2	0	1	5	6	0	1	7	4			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr15:73428355G>C	uc002avm.4	+	4	1194	c.1002G>C	c.(1000-1002)gaG>gaC	p.E334D	NEO1_uc010ukx.2_Missense_Mutation_p.E334D|NEO1_uc010uky.2_Missense_Mutation_p.E334D|NEO1_uc002avn.4_Missense_Mutation_p.E334D|NEO1_uc010ukz.2_5'UTR	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	334	Ig-like C2-type 3.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CTCAAGCAGAGCTTACAGTGC	0.373													11	23					0	0	1	0	0	C	73428355	G	C	73428355	3	2	274	1	0	0	0	0	1	0	0	0	10336	962	34	5	1020	5	NEO1	15	73428355	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	10092084	73428355	29103037	47	11855											
SPATA22	84690	broad.mit.edu	37	chr17	3366004	3366004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatatttctccacatacccgGtgtccactgttttcattaca	9	16	4	12	1	2	0	1	0	1	0	4	0	3	0	3	1	2	1	3	1	4	7			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr17:3366004G>A	uc002fvm.3	-	3	468	c.230C>T	c.(229-231)aCc>aTc	p.T77I	SPATA22_uc010vrg.2_Missense_Mutation_p.T61I|SPATA22_uc010vrf.2_Missense_Mutation_p.T77I|SPATA22_uc002fvo.3_Missense_Mutation_p.T77I|SPATA22_uc002fvn.3_Missense_Mutation_p.T77I|SPATA22_uc002fvp.3_Missense_Mutation_p.T77I|SPATA22_uc010ckf.3_Missense_Mutation_p.T34I	NM_032598	NP_115987	Q8NHS9	SPT22_HUMAN	Homo sapiens spermatogenesis associated 22 (SPATA22), transcript variant 2, mRNA.	77										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						CACATACCCGGTGTCCACTGT	0.363													5	113					0	0	1	0	0	A	3366004	G	A	3366004	3	1	274	1	0	0	0	0	1	0	0	0	15007	1261	44	3	885	3	SPATA22	17	3366004	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08		3366004	77829206	48	11856											
SMAD2	4087	broad.mit.edu	37	chr18	45422914	45422914	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtatggtaacacatttagTattacagttttgagtggtga	11	16	11	3	0	0	2	0	2	0	0	0	2	0	2	0	3	2	4	0	3	5	8			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr18:45422914T>C	uc002lcy.3	-	1	462	c.214A>G	c.(214-216)Act>Gct	p.T72A	SMAD2_uc002lcz.3_Missense_Mutation_p.T72A|SMAD2_uc010xdc.2_Missense_Mutation_p.T72A|SMAD2_uc010xdd.1_Missense_Mutation_p.T72A	NM_005901	NP_005892	Q15796	SMAD2_HUMAN	Homo sapiens SMAD family member 2 (SMAD2), transcript variant 1, mRNA.	72	MH1.				SMAD protein complex assembly|anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	I-SMAD binding|R-SMAD binding|activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						ACACATTTAGTATTACAGTTT	0.368													6	70					0	0	1	0	0	C	45422914	T	C	45422914	3	2	274	1	0	0	0	0	1	0	0	0	14758	1638	57	3	1229	3	SMAD2	18	45422914	Missense_Mutation	SNP	T	TCGA-IK-8125-01A-11D-2253-08		45422914	32654334	49	11857											
DAPK3	1613	broad.mit.edu	37	chr19	3964722	3964722	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggcctcgtcctccgtcagCgactccttctccgccaggaa	5	9	10	17	4	2	0	1	0	1	0	7	2	5	1	6	2	1	0	6	2	1	1			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:3964722C>T	uc002lzc.1	-	1	424	c.330G>A	c.(328-330)tcG>tcA	p.S110S	DAPK3_uc002lzb.1_5'Flank|DAPK3_uc002lzd.1_Silent_p.S110S	NM_001348	NP_001339	O43293	DAPK3_HUMAN	Homo sapiens death-associated protein kinase 3 (DAPK3), mRNA.	110	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	PML body|cytoplasm	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCGTCAGCGACTCCTTCT	0.592													17	110					0	0	1	0	0	T	3964722	C	T	3964722	2	4	274	1	0	0	0	0	0	0	0	1	4237	755	27	1		1	DAPK3	19	3964722	Silent	SNP	C	TCGA-IK-8125-01A-11D-2253-08		3964722	55164261	50	11858											
C3	718	broad.mit.edu	37	chr19	6718386	6718386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacggtcacgaacttgttgCgccccttttctgacttgaac	7	12	9	13	3	2	2	1	2	1	0	2	3	2	2	2	1	3	2	2	1	2	5			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:6718386C>T	uc002mfm.3	-	2	367	c.305G>A	c.(304-306)cGc>cAc	p.R102H		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	102			R -> G (in allele C3F; associated with ARMD9; dbSNP:rs2230199).		G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GAACTTGTTGCGCCCCTTTTC	0.607													9	122					0	0	1	0	0	T	6718386	C	T	6718386	3	4	274	1	0	0	0	0	1	0	0	0	2204	768	27	1	4842	1	C3	19	6718386	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	2753664	6718386	52410597	51	11859											
ZNF878	729747	broad.mit.edu	37	chr19	12154973	12154973	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttctctcctgtgtgagttcGtatgtgcttttgaaggactg	5	18	11	7	1	1	2	0	2	1	0	4	3	2	3	1	1	1	3	1	1	2	5			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:12154973G>A	uc021upl.1	-	3	1409	c.1243C>T	c.(1243-1245)Cga>Tga	p.R415*	ZNF878_uc002mta.1_Nonsense_Mutation_p.R462*	NM_001080404	NP_001073873	C9JN71	ZN878_HUMAN	Homo sapiens zinc finger protein 878 (ZNF878), mRNA.	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GTGTGAGTTCGTATGTGCTTT	0.433													11	29					0	0	1	0	0	A	12154973	G	A	12154973	4	1	274	1	0	0	0	0	0	1	0	0	18193	1153	40	1	356	1	ZNF878	19	12154973	Nonsense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	5436587	12154973	46974010	52	11860											
NOTCH3	4854	broad.mit.edu	37	chr19	15299837	15299837	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgaactggcctatgcggtcGaggcacgtggcctggtttcg	5	10	16	10	4	0	1	0	1	0	0	2	2	0	1	2	5	2	2	2	5	2	2			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:15299837G>A	uc002nan.3	-	7	1417	c.1341C>T	c.(1339-1341)ctC>ctT	p.L447L	NOTCH3_uc002nao.1_Silent_p.L447L	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	447	EGF-like 11; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CTATGCGGTCGAGGCACGTGG	0.667													7	31					0	0	1	0	0	A	15299837	G	A	15299837	2	1	274	1	0	0	0	0	0	0	0	1	10550	1045	37	2		2	NOTCH3	19	15299837	Silent	SNP	G	TCGA-IK-8125-01A-11D-2253-08	3144864	15299837	43829146	53	11861											
CIC	23152	broad.mit.edu	37	chr19	42797750	42797750	+	Frame_Shift_Del	DEL	A	A	-																															catctccaccccaggccagcAaattccccagctcatcttca																										TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:42797750delA	uc002otf.1	+	15	3842	c.3802delA	c.(3802-3804)aaafs	p.K1268fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1268	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCAGGCCAGCAAATTCCCCAG	0.637			"Mis, F, S"		oligodendroglioma								25	21	---	---	---	---						-	42797750	A	-	42797750	7	5	274	1	0	1	0	1	0	0	0	0	3424	131	5	0	3864	0	CIC	19	42797750	Frame_Shift_Del	DEL	A	TCGA-IK-8125-01A-11D-2253-08	27497913	42797750	16331233	54	11862											
ZNF223	7766	broad.mit.edu	37	chr19	44571252	44571252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcataagagactccattgccGaaaaaaaccattcaaatgtg	17	9	6	9	1	2	1	2	0	0	1	3	3	3	1	3	0	2	0	3	0	5	3			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:44571252G>A	uc002oyf.1	+	4	1524	c.1271G>A	c.(1270-1272)cGa>cAa	p.R424Q	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	Homo sapiens zinc finger protein 223 (ZNF223), mRNA.	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				CTCCATTGCCGAAAAAAACCA	0.413													3	42					0	0	1	0	0	A	44571252	G	A	44571252	3	1	274	1	0	0	0	0	1	0	0	0	17774	1058	37	2	1285	2	ZNF223	19	44571252	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	1773502	44571252	14557731	55	11863											
TEAD2	8463	broad.mit.edu	37	chr19	49845721	49845721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgaagttttccaggaCgctgttcatcatgtatcgct	8	14	11	8	2	2	1	2	1	0	0	4	3	3	2	1	2	0	5	1	2	2	4			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:49845721C>T	uc002pnh.3	-	11	1322	c.1216G>A	c.(1216-1218)Gtc>Atc	p.V406I	AK097351_uc002pnb.1_5'Flank|TEAD2_uc002png.3_Missense_Mutation_p.V405I|TEAD2_uc002pni.3_Missense_Mutation_p.V405I|TEAD2_uc002pnj.3_Missense_Mutation_p.V402I|TEAD2_uc010yao.2_Missense_Mutation_p.V274I|TEAD2_uc010emw.3_Missense_Mutation_p.V405I	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	Homo sapiens TEA domain family member 2 (TEAD2), mRNA.	402	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		TTTTCCAGGACGCTGTTCATC	0.572													26	30					0	0	1	0	0	T	49845721	C	T	49845721	3	4	274	1	0	0	0	0	1	0	0	0	15736	536	19	1	147	1	TEAD2	19	49845721	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	5274469	49845721	9283262	56	11864											
U2AF2	11338	broad.mit.edu	37	chr19	56175034	56175034	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcatcttccagggccaGtcactaaagatccgcaggcc	10	7	10	14	1	3	1	2	0	1	1	5	1	5	1	4	3	0	2	4	3	2	2			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:56175034G>C	uc002qlu.3	+	6	1721	c.666G>C	c.(664-666)caG>caC	p.Q222H	U2AF2_uc002qlt.3_Missense_Mutation_p.Q222H	NM_007279	NP_009210	P26368	U2AF2_HUMAN	Homo sapiens U2 small nuclear RNA auxiliary factor 2 (U2AF2), transcript variant 1, mRNA.	222	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	RNA binding|enzyme binding|nucleotide binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		TCCAGGGCCAGTCACTAAAGA	0.567													10	95					0	0	1	0	0	C	56175034	G	C	56175034	3	2	274	1	0	0	0	0	1	0	0	0	16820	1020	36	5	692	5	U2AF2	19	56175034	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	6329313	56175034	2953949	57	11865											
COL18A1	80781	broad.mit.edu	37	chr21	46909433	46909433	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgggctgccgggggcgAaggtaagcgctgtgcccggg	4	6	20	11	4	0	0	0	0	0	0	0	1	0	0	3	5	4	3	3	5	2	1			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr21:46909433A>G	uc002zhi.3	+	17	2518	c.2497A>G	c.(2497-2499)Aag>Gag	p.K833E	COL18A1_uc002zhg.3_Missense_Mutation_p.K653E	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	1068	Triple-helical region 2 (COL2).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GCCGGGGGCGAAGGTAAGCGC	0.706													10	10					0	0	1	0	0	G	46909433	A	G	46909433	3	3	274	1	0	0	0	0	1	0	0	0	3675	247	9	3	3386	3	COL18A1	21	46909433	Missense_Mutation	SNP	A	TCGA-IK-8125-01A-11D-2253-08		46909433	1220462	58	11866											
PARVB	29780	broad.mit.edu	37	chr22	44489821	44489821	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaacagtgagtgacctgcaGgaagaaggcaagaatgccat	15	6	12	8	0	1	4	1	2	0	2	1	5	1	5	2	2	3	2	2	2	5	0			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr22:44489821G>A	uc003bem.3	+	2	355	c.225G>A	c.(223-225)caG>caA	p.Q75Q	PARVB_uc003ben.3_Silent_p.Q42Q|PARVB_uc010gzn.3_5'UTR|PARVB_uc003beo.3_Silent_p.Q5Q	NM_001003828	NP_001003828	Q9HBI1	PARVB_HUMAN	Homo sapiens parvin, beta (PARVB), transcript variant 1, mRNA.	42					cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GTGACCTGCAGGAAGAAGGCA	0.547													42	84					0	0	1	0	0	A	44489821	G	A	44489821	2	1	274	1	0	0	0	0	0	0	0	1	11469	991	35	3		3	PARVB	22	44489821	Silent	SNP	G	TCGA-IK-8125-01A-11D-2253-08		44489821	6814745	59	11867											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	6	9	9	17	2	2	0	0	0	2	0	6	2	4	2	5	2	2	0	5	2	2	1	rs145580328	byFrequency	TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chrX:37028425A>G	uc004ddl.2	+	0	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	648								p.N648D(11)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													4	110					0	0	1	0	0	G	37028425	A	G	37028425	3	3	274	1	0	0	0	0	1	0	0	0	5571	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-IK-8125-01A-11D-2253-08		37028425	118242135	60	11868											
FTSJ1	24140	broad.mit.edu	37	chrX	48339829	48339829	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcagatattccgaggccggGatgtgacgctcctctacagc	8	9	12	12	3	1	2	0	1	1	1	3	4	3	3	3	2	3	2	3	2	2	3			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chrX:48339829G>T	uc004djo.1	+	7	807	c.484G>T	c.(484-486)Gat>Tat	p.D162Y	FTSJ1_uc004djn.1_Missense_Mutation_p.D162Y|FTSJ1_uc011mlw.1_Missense_Mutation_p.D25Y	NM_012280	NP_036412	Q9UET6	RRMJ1_HUMAN	Homo sapiens FtsJ homolog 1 (E. coli) (FTSJ1), transcript variant 1, mRNA.	162					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						CCGAGGCCGGGATGTGACGCT	0.602													29	8					3.99451e-17	4.16095e-17	1	1	0	T	48339829	G	T	48339829	3	4	274	1	0	0	0	0	1	0	0	0	6087	1174	41	5	510	5	FTSJ1	23	48339829	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	11311404	48339829	106930731	61	11869											
LHFPL1	340596	broad.mit.edu	37	chrX	111914414	111914414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcattgaagctggcatagcGcccacattcttccaccatga	10	9	9	13	1	1	2	0	2	1	0	2	2	2	2	3	2	2	3	3	2	2	4			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chrX:111914414G>A	uc004epp.3	-	0	347	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C	LHFPL1_uc004epq.3_Missense_Mutation_p.R69C|LHFPL1_uc010nqa.3_Intron|LHFPL1_uc010nqb.3_Missense_Mutation_p.R69C	NM_178175	NP_835469	Q86WI0	LHPL1_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 1 (LHFPL1), mRNA.	69						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						CTGGCATAGCGCCCACATTCT	0.592													33	61					0	0	1	0	0	A	111914414	G	A	111914414	3	1	274	1	0	0	0	0	1	0	0	0	8764	1087	38	1	469	1	LHFPL1	23	111914414	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	63574585	111914414	43356146	62	11870											
NSDHL	50814	broad.mit.edu	37	chrX	152037637	152037637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaggaccgtgcagagctttCgccacctgcggagggtcaag	9	6	15	11	3	1	2	1	0	0	2	2	4	1	4	3	3	3	2	3	3	1	1			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chrX:152037637C>T	uc004fgt.1	+	8	1360	c.1099C>T	c.(1099-1101)Cgc>Tgc	p.R367C	NSDHL_uc004fgs.1_Missense_Mutation_p.R367C	NM_001129765	NP_057006	Q15738	NSDHL_HUMAN	Homo sapiens NAD(P) dependent steroid dehydrogenase-like (NSDHL), transcript variant 2, mRNA.	367					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|binding|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	GCAGAGCTTTCGCCACCTGCG	0.552													7	21					0	0	1	0	0	T	152037637	C	T	152037637	3	4	274	1	0	0	0	0	1	0	0	0	10670	884	31	2	1125	2	NSDHL	23	152037637	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	40123223	152037637	3232923	63	11871											
NEB	4703	broad.mit.edu	37	chr2	152409936	152409936	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacgtagatcataagcatgCttggcatggaggatttcagg	11	11	12	7	1	3	1	3	0	0	1	3	3	3	3	0	4	2	4	0	4	2	4			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr2:152409936C>T	uc021vrb.1	-	97	14633	c.14604G>A	c.(14602-14604)aaG>aaA	p.K4868K	NEB_uc002txr.3_Silent_p.K1334K|NEB_uc002txu.3_Silent_p.K6569K|NEB_uc021vrc.1_Silent_p.K6569K|NEB_uc010fnx.3_Silent_p.K4856K|NEB_uc021vrd.1_Silent_p.K4868K	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4868					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATAAGCATGCTTGGCATGGA	0.398													26	48					0	0	1	0	0	T	152409936	C	T	152409936	2	4	275	1	0	0	0	0	0	0	0	1	10302	796	28	3		3	NEB	2	152409936	Silent	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08		152409936	90789437	1	11872											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								20	35					0	0	1	0	0	T	209113112	C	T	209113112	3	4	275	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08	56703176	209113112	34086261	2	11873											
TREX1	11277	broad.mit.edu	37	chr3	48508260	48508261	+	Frame_Shift_Del	DEL	TG	TG	-																															tgtggtagacaagctctcccTgtgtgtggctccggggaagg																										TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr3:48508260_48508261delTG	uc003ctj.3	+	1	1628_1629	c.371_372delTG	c.(370-372)ctgfs	p.L124fs	TREX1_uc010hjy.3_Frame_Shift_Del_p.L69fs|TREX1_uc010hjz.3_Frame_Shift_Del_p.L69fs|TREX1_uc003ctk.3_5'UTR|TREX1_uc010hka.3_Frame_Shift_Del_p.L124fs	NM_033629	NP_338599	Q9NSU2	TREX1_HUMAN	Homo sapiens three prime repair exonuclease 1 (TREX1), transcript variant 4, mRNA.	124					DNA recombination|DNA replication|cell death|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|MutLalpha complex binding|MutSalpha complex binding|exodeoxyribonuclease III activity|metal ion binding|protein homodimerization activity|single-stranded DNA binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AAGCTCTCCCTGTGTGTGGCTC	0.634													67	146	---	---	---	---						-	48508261	TG	-	48508260	7	5	275	1	0	1	0	1	0	0	0	0	16473	1580	55	0	373	0	TREX1	3	48508260	Frame_Shift_Del	DEL	TG	TCGA-P5-A5ET-01A-11D-A27K-08		48508260	149514170	3	11874											
ZBTB20	26137	broad.mit.edu	37	chr3	114058232	114058234	+	In_Frame_Del	DEL	AGA	AGA	-																															gataaggtaatcctttaaggAgaaggagcgccaacagatgc																										TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr3:114058232_114058234delAGA	uc003ebi.3	-	4	2024_2026	c.1844_1846delTCT	c.(1843-1848)ttctcc>tcc	p.F615del	ZBTB20_uc003ebj.3_In_Frame_Del_p.F542del|ZBTB20_uc010hqp.3_In_Frame_Del_p.F542del|ZBTB20_uc003ebk.3_In_Frame_Del_p.F542del|ZBTB20_uc003ebl.3_In_Frame_Del_p.F542del|ZBTB20_uc003ebm.3_In_Frame_Del_p.F542del|ZBTB20_uc003ebn.3_In_Frame_Del_p.F542del	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	615					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TCCTTTAAGGAGAAGGAGCGCCA	0.502													28	68	---	---	---	---						-	114058234	AGA	-	114058232	7	5	275	1	0	1	0	1	0	0	0	0	17526	304	11	0	383	0	ZBTB20	3	114058232	In_Frame_Del	DEL	AGA	TCGA-P5-A5ET-01A-11D-A27K-08	65549972	114058232	83964198	4	11875											
MBD4	8930	broad.mit.edu	37	chr3	129155397	129155399	+	In_Frame_Del	DEL	CTT	CTT	-																															atgttctttcctttccacaaCttctacttttgttccgattt																										TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr3:129155397_129155399delCTT	uc003emh.1	-	2	1264_1266	c.1088_1090delAAG	c.(1087-1092)gaagtt>gtt	p.E363del	MBD4_uc003emi.1_In_Frame_Del_p.E363del|MBD4_uc003emj.1_In_Frame_Del_p.E363del|MBD4_uc003emk.1_Intron|MBD4_uc011bkw.1_In_Frame_Del_p.E363del	NM_003925	NP_003916	O95243	MBD4_HUMAN	Homo sapiens methyl-CpG binding domain protein 4 (MBD4), mRNA.	363					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						CTTTCCACAACTTCTACTTTTGT	0.384								Base excision repair (BER), DNA glycosylases					24	53	---	---	---	---						-	129155399	CTT	-	129155397	7	5	275	1	0	1	0	1	0	0	0	0	9346	565	20	0	676	0	MBD4	3	129155397	In_Frame_Del	DEL	CTT	TCGA-P5-A5ET-01A-11D-A27K-08	15097165	129155397	68867033	5	11876											
EIF4G1	1981	broad.mit.edu	37	chr3	184042726	184042726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgggacatagcccggcggCgctctttagggaatatcaag	9	8	13	11	4	2	0	1	0	1	0	3	2	2	2	1	4	1	1	1	4	5	4			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr3:184042726C>T	uc003fnp.3	+	17	2951	c.2680C>T	c.(2680-2682)Cgc>Tgc	p.R894C	EIF4G1_uc003fno.2_Missense_Mutation_p.R835C|EIF4G1_uc010hxw.2_Missense_Mutation_p.R730C|EIF4G1_uc010hxx.3_Missense_Mutation_p.R901C|EIF4G1_uc003fnt.3_Missense_Mutation_p.R605C|EIF4G1_uc010hxy.3_Missense_Mutation_p.R901C|EIF4G1_uc003fnq.3_Missense_Mutation_p.R807C|EIF4G1_uc003fnr.3_Missense_Mutation_p.R730C|EIF4G1_uc003fns.3_Missense_Mutation_p.R854C|EIF4G1_uc003fnv.4_Missense_Mutation_p.R895C|EIF4G1_uc003fnw.3_Missense_Mutation_p.R901C|EIF4G1_uc003fnx.3_Missense_Mutation_p.R699C|SNORD66_uc003fnz.3_5'Flank	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	894	eIF3/EIF4A-binding.			R -> C (in Ref. 1; BAA02185).	insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	p.R893R(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGCCCGGCGGCGCTCTTTAGG	0.478													4	140					0	0	1	0	0	T	184042726	C	T	184042726	3	4	275	1	0	0	0	0	1	0	0	0	5036	768	27	1	2742	1	EIF4G1	3	184042726	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08	54887329	184042726	13979704	6	11877											
IL6ST	3572	broad.mit.edu	37	chr5	55259245	55259245	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttagtattataacactctTaatacttgggttggtccatg	10	18	7	6	0	1	0	0	0	1	0	2	0	2	0	1	2	2	2	1	2	6	9			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr5:55259245T>G	uc003jqq.3	-	6	1061	c.748A>C	c.(748-750)Aag>Cag	p.K250Q	IL6ST_uc003jqp.3_Missense_Mutation_p.K84Q|IL6ST_uc010iwd.3_Intron|IL6ST_uc011cqk.2_5'UTR|IL6ST_uc003jqr.3_Missense_Mutation_p.K250Q|IL6ST_uc010iwb.3_Missense_Mutation_p.K250Q	NM_002184	NP_002175	P40189	IL6RB_HUMAN	Homo sapiens interleukin 6 signal transducer (gp130, oncostatin M receptor) (IL6ST), transcript variant 1, mRNA.	250	Fibronectin type-III 2.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of T cell proliferation|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				ATAACACTCTTAATACTTGGG	0.343			O		hepatocellular ca								5	38					0	0	1	0	0	G	55259245	T	G	55259245	3	3	275	1	0	0	0	0	1	0	0	0	7703	1763	61	5	2052	5	IL6ST	5	55259245	Missense_Mutation	SNP	T	TCGA-P5-A5ET-01A-11D-A27K-08		55259245	125656015	7	11878											
DST	667	broad.mit.edu	37	chr6	56336894	56336896	+	In_Frame_Del	DEL	CTT	CTT	-																															aggcatcattgagtttcctcCttctttccaacgccaggagc																										TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr6:56336894_56336896delCTT	uc003pcy.4	-	74	14358_14360	c.14250_14252delAAG	c.(14248-14253)agaagg>agg	p.4750_4751RR>R	DST_uc003pcx.4_5'Flank	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	7162					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GAGTTTCCTCCTTCTTTCCAACG	0.453													47	103	---	---	---	---						-	56336896	CTT	-	56336894	7	5	275	1	0	1	0	1	0	0	0	0	4783	681	24	0	1303	0	DST	6	56336894	In_Frame_Del	DEL	CTT	TCGA-P5-A5ET-01A-11D-A27K-08		56336894	114778173	8	11879											
MAP3K4	4216	broad.mit.edu	37	chr6	161528964	161528964	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaaggtgtacacctgcaTcagcgtcgacaccggggagc	9	6	15	11	3	1	0	1	0	0	0	2	3	1	2	2	4	4	2	2	4	2	1			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr6:161528964T>G	uc003qtn.3	+	20	4224	c.4082T>G	c.(4081-4083)aTc>aGc	p.I1361S	MAP3K4_uc010kkc.1_Missense_Mutation_p.I1357S|MAP3K4_uc003qto.3_Missense_Mutation_p.I1311S|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Missense_Mutation_p.I814S|MAP3K4_uc003qtp.3_Missense_Mutation_p.I297S|MAP3K4_uc003qtq.3_Missense_Mutation_p.I50S	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	1361	Protein kinase.				JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TACACCTGCATCAGCGTCGAC	0.552													6	71					0	0	1	0	0	G	161528964	T	G	161528964	3	3	275	1	0	0	0	0	1	0	0	0	9252	1435	50	5	4164	5	MAP3K4	6	161528964	Missense_Mutation	SNP	T	TCGA-P5-A5ET-01A-11D-A27K-08	105192070	161528964	9586103	9	11880											
DLL1	28514	broad.mit.edu	37	chr6	170594119	170594119	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggggctgtctgagcaccgAcccccgttaaagcaagggcc	8	6	13	14	3	1	1	0	1	1	0	2	2	1	1	4	3	2	4	4	3	3	1			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr6:170594119A>C	uc003qxm.3	-	7	1607	c.1137T>G	c.(1135-1137)ggT>ggG	p.G379G		NM_005618	NP_005609	O00548	DLL1_HUMAN	Homo sapiens delta-like 1 (Drosophila) (DLL1), mRNA.	379	EGF-like 5.				Notch receptor processing|Notch signaling pathway|cell communication|cell fate determination|hemopoiesis|regulation of cell adhesion	extracellular region|integral to plasma membrane	Notch binding|calcium ion binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CTGAGCACCGACCCCCGTTAA	0.577													6	89					0	0	1	0	0	C	170594119	A	C	170594119	2	2	275	1	0	0	0	0	0	0	0	1	4566	262	10	5		5	DLL1	6	170594119	Silent	SNP	A	TCGA-P5-A5ET-01A-11D-A27K-08	9065155	170594119	520948	10	11881											
ABCB1	5243	broad.mit.edu	37	chr7	87170760	87170762	+	In_Frame_Del	DEL	ATC	ATC	-																															ttctgtcgttttgtttcaggAtcatcaattcttgtaaaaac																										TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr7:87170760_87170762delATC	uc003uiz.2	-	18	2723_2725	c.2230_2232delGAT	c.(2230-2232)gatdel	p.D744del	ABCB1_uc011khc.2_In_Frame_Del_p.D680del	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	744	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTGTTTCAGGATCATCAATTCTT	0.355													10	79	---	---	---	---						-	87170762	ATC	-	87170760	7	5	275	1	0	1	0	1	0	0	0	0	40	330	12	0	1654	0	ABCB1	7	87170760	In_Frame_Del	DEL	ATC	TCGA-P5-A5ET-01A-11D-A27K-08		87170760	71967903	11	11882											
HBP1	26959	broad.mit.edu	37	chr7	106836571	106836571	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatacagagttgaatatactCagatgtatccagggaaagat	17	10	9	5	0	1	4	1	1	0	3	2	5	2	5	1	1	2	2	1	1	7	5			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr7:106836571C>G	uc003vdy.3	+	8	1546	c.1360C>G	c.(1360-1362)Cag>Gag	p.Q454E	HBP1_uc011klv.2_Missense_Mutation_p.Q464E|HBP1_uc003vdz.3_Missense_Mutation_p.Q454E|HBP1_uc003vea.3_Missense_Mutation_p.Q454E|HBP1_uc003veb.1_Missense_Mutation_p.Q454E	NM_012257	NP_036389	O60381	HBP1_HUMAN	Homo sapiens HMG-box transcription factor 1 (HBP1), transcript variant 2, mRNA.	454					Wnt receptor signaling pathway|cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						TGAATATACTCAGATGTATCC	0.363													20	31					0	0	1	0	0	G	106836571	C	G	106836571	3	3	275	1	0	0	0	0	1	0	0	0	6985	827	29	5	1390	5	HBP1	7	106836571	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08	19665811	106836571	52302092	12	11883											
DOK2	9046	broad.mit.edu	37	chr8	21769438	21769438	+	Frame_Shift_Del	DEL	T	T	-																															ctgcgctgctgtacaattcaTtttcctccatgcagggccgg																										TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr8:21769438delT	uc003wzx.1	-	2	500	c.407delA	c.(406-408)aatfs	p.N136fs	DOK2_uc003wzy.1_Frame_Shift_Del_p.N136fs|DOK2_uc003wzz.1_Intron|DOK2_uc010lth.1_Intron	NM_003974	NP_003965	O60496	DOK2_HUMAN	Homo sapiens docking protein 2, 56kDa (DOK2), mRNA.	136					blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GTACAATTCATTTTCCTCCAT	0.667													2	4	---	---	---	---						-	21769438	T	-	21769438	7	5	275	1	0	1	0	1	0	0	0	0	4697	1493	52	0	843	0	DOK2	8	21769438	Frame_Shift_Del	DEL	T	TCGA-P5-A5ET-01A-11D-A27K-08		21769438	124594584	13	11884											
EFR3A	23167	broad.mit.edu	37	chr8	132968053	132968055	+	In_Frame_Del	DEL	AAG	AAG	-																															ttctccttctgcaactgacaAagaagagaatcctgctgtgc																								rs138896182		TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr8:132968053_132968055delAAG	uc003yte.3	+	6	881_883	c.677_679delAAG	c.(676-681)aaagaa>aaa	p.E228del		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA.	228						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			GCAACTGACAAAGAAGAGAATCC	0.384													35	107	---	---	---	---						-	132968055	AAG	-	132968053	7	5	275	1	0	1	0	1	0	0	0	0	4958	14	1	0	703	0	EFR3A	8	132968053	In_Frame_Del	DEL	AAG	TCGA-P5-A5ET-01A-11D-A27K-08	111198615	132968053	13395969	14	11885											
MAPK15	225689	broad.mit.edu	37	chr8	144803509	144803509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagagccgaccctcagctgCcttctaggacacctgtgcag	8	7	10	16	1	2	1	1	0	1	1	2	3	2	2	5	1	4	2	5	1	1	2			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr8:144803509C>T	uc003yzj.3	+	10	1173	c.1132C>T	c.(1132-1134)Cct>Tct	p.P378S		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.	378					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCCTCAGCTGCCTTCTAGGAC	0.672													63	95					0	0	1	0	0	T	144803509	C	T	144803509	3	4	275	1	0	0	0	0	1	0	0	0	9277	739	26	3	1174	3	MAPK15	8	144803509	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08	11835456	144803509	1560513	15	11886											
NOTCH1	4851	broad.mit.edu	37	chr9	139413129	139413131	+	In_Frame_Del	DEL	TCA	TCA	-																															agcaggcggcgctggcacagTcatcaatgttctcgctgcag																										TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr9:139413129_139413131delTCA	uc004chz.3	-	5	1011_1013	c.1011_1013delTGA	c.(1009-1014)gatgac>gac	p.337_338DD>D		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	337	EGF-like 9; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCTGGCACAGTCATCAATGTTCT	0.631			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			14	46	---	---	---	---						-	139413131	TCA	-	139413129	7	5	275	1	0	1	0	1	0	0	0	0	10547	1667	58	0	6770	0	NOTCH1	9	139413129	In_Frame_Del	DEL	TCA	TCGA-P5-A5ET-01A-11D-A27K-08		139413129	1800302	16	11887											
PRKCQ	5588	broad.mit.edu	37	chr10	6472890	6472890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagcctcttctcaggttctCgcacgaagagctgaaaggga	10	8	11	12	2	3	2	1	1	3	1	5	4	3	3	2	2	2	3	2	2	2	2			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr10:6472890C>T	uc001iji.1	-	15	2030	c.1946G>A	c.(1945-1947)cGa>cAa	p.R649Q	PRKCQ_uc001ijj.2_Missense_Mutation_p.R616Q|PRKCQ_uc009xim.2_Missense_Mutation_p.R553Q|PRKCQ_uc009xin.2_Missense_Mutation_p.R580Q|PRKCQ_uc010qax.2_Missense_Mutation_p.R491Q	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	616	AGC-kinase C-terminal.				T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						CTCAGGTTCTCGCACGAAGAG	0.587													20	36					0	0	1	0	0	T	6472890	C	T	6472890	3	4	275	1	0	0	0	0	1	0	0	0	12515	884	31	2	281	2	PRKCQ	10	6472890	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08		6472890	129061857	17	11888											
JMJD1C	221037	broad.mit.edu	37	chr10	64968101	64968101	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atttgaaacttctttggatgGgtatgatcttggtggttcat	8	18	11	4	0	3	2	1	2	2	0	3	3	3	3	0	4	1	2	0	4	2	6			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr10:64968101G>T	uc001jmn.3	-	9	3628	c.3328C>A	c.(3328-3330)Cca>Aca	p.P1110T	JMJD1C_uc001jml.3_Missense_Mutation_p.P891T|JMJD1C_uc001jmm.3_Missense_Mutation_p.P822T|JMJD1C_uc010qiq.2_Missense_Mutation_p.P928T|JMJD1C_uc009xpi.3_Missense_Mutation_p.P928T|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc009xpk.1_Missense_Mutation_p.P147T	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	1110					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	p.R1109Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TCTTTGGATGGGTATGATCTT	0.383													4	185					0.150653	0.150653	1	1	0	T	64968101	G	T	64968101	3	4	275	1	0	0	0	0	1	0	0	0	7950	1232	43	5	4362	5	JMJD1C	10	64968101	Missense_Mutation	SNP	G	TCGA-P5-A5ET-01A-11D-A27K-08	58495211	64968101	70566646	18	11889											
ATG2A	23130	broad.mit.edu	37	chr11	64665787	64665787	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgcggagacagcactcaggCccacccaggttggtagtggg	9	5	15	12	2	1	1	1	0	0	1	1	2	1	1	2	5	1	3	2	5	1	2			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr11:64665787C>T	uc001obx.3	-	32	4834	c.4719G>A	c.(4717-4719)ggG>ggA	p.G1573G	ATG2A_uc001obw.3_Silent_p.G338G	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1573							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						AGCACTCAGGCCCACCCAGGT	0.637											OREG0004029	type=REGULATORY REGION|Gene=BC033850|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	15	16					0	0	1	0	0	T	64665787	C	T	64665787	2	4	275	1	0	0	0	0	0	0	0	1	1093	726	26	3		3	ATG2A	11	64665787	Silent	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08		64665787	70340729	19	11890											
SPTBN2	6712	broad.mit.edu	37	chr11	66454995	66454995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggctctgggcctcgaggcgGcagggtggcagcatgggctg	4	7	20	10	2	1	0	0	0	1	0	2	1	1	0	1	7	1	5	1	7	0	0			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr11:66454995G>A	uc001ojd.3	-	33	6697	c.6625C>T	c.(6625-6627)Ccg>Tcg	p.P2209S	SPTBN2_uc001ojc.1_Silent_p.C69C	NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	2209					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCTCGAGGCGGCAGGGTGGCA	0.672													5	120					0	0	1	0	0	A	66454995	G	A	66454995	3	1	275	1	0	0	0	0	1	0	0	0	15119	1203	42	3	563	3	SPTBN2	11	66454995	Missense_Mutation	SNP	G	TCGA-P5-A5ET-01A-11D-A27K-08	1789208	66454995	68551521	20	11891											
TCIRG1	10312	broad.mit.edu	37	chr11	67816587	67816587	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctgctgctggagacgctGccggagctcaccttcctgct	4	9	13	15	3	1	1	1	0	0	1	2	3	2	2	3	3	5	6	3	3	0	1			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr11:67816587G>T	uc001one.3	+	14	1842	c.1713G>T	c.(1711-1713)ctG>ctT	p.L571L	TCIRG1_uc001ong.3_Silent_p.L355L|TCIRG1_uc009ysd.3_5'Flank	NM_006019	NP_006044	Q13488	VPP3_HUMAN	Homo sapiens T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 (TCIRG1), transcript variant 1, mRNA.	571					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						TGGAGACGCTGCCGGAGCTCA	0.667													5	185					0.00116845	0.00119766	1	1	0	T	67816587	G	T	67816587	2	4	275	1	0	0	0	0	0	0	0	1	15700	1306	46	5		5	TCIRG1	11	67816587	Silent	SNP	G	TCGA-P5-A5ET-01A-11D-A27K-08	1361592	67816587	67189929	21	11892											
ARHGEF12	23365	broad.mit.edu	37	chr11	120312904	120312904	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcagttctttctagatcGatcagcagtaagttgccaag	11	13	8	9	1	5	1	3	0	2	1	6	2	5	1	1	0	2	4	1	0	3	5			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr11:120312904G>T	uc001pxl.2	+	14	1630	c.1295G>T	c.(1294-1296)cGa>cTa	p.R432L	ARHGEF12_uc009zat.3_Missense_Mutation_p.R413L|ARHGEF12_uc010rzn.1_Missense_Mutation_p.R329L|ARHGEF12_uc009zau.1_Missense_Mutation_p.R329L|ARHGEF12_uc021qrm.1_Missense_Mutation_p.R413L	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA.	432	RGSL.				G-protein coupled receptor protein signaling pathway|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TTTCTAGATCGATCAGCAGTA	0.388			T	MLL	AML								10	16					0.000673444	0.00070798	1	1	0	T	120312904	G	T	120312904	3	4	275	1	0	0	0	0	1	0	0	0	897	1058	37	5	1353	5	ARHGEF12	11	120312904	Missense_Mutation	SNP	G	TCGA-P5-A5ET-01A-11D-A27K-08	52496317	120312904	14693612	22	11893											
LDHB	3945	broad.mit.edu	37	chr12	21797028	21797028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactacaatcttagaattggCagtcacagaataatctttaa	16	12	5	8	0	3	2	1	0	2	2	3	2	3	2	0	1	1	1	0	1	7	6	rs145369309		TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr12:21797028C>T	uc001rfd.3	-	3	595	c.262G>A	c.(262-264)Gcc>Acc	p.A88T	LDHB_uc001rfe.3_Missense_Mutation_p.A88T	NM_001174097	NP_002291	P07195	LDHB_HUMAN	Homo sapiens lactate dehydrogenase B (LDHB), transcript variant 2, mRNA.	88					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26					NADH(DB00157)	TTAGAATTGGCAGTCACAGAA	0.373													3	49					0	0	1	0	0	T	21797028	C	T	21797028	3	4	275	1	0	0	0	0	1	0	0	0	8701	710	25	3	762	3	LDHB	12	21797028	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08		21797028	112054867	23	11894											
EP400	57634	broad.mit.edu	37	chr12	132547108	132547108	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacaacagcagcagcagcaGcagcagcagcagcagcagca	16	0	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	0			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr12:132547108G>A	uc001ujn.3	+	46	8348	c.8196G>A	c.(8194-8196)caG>caA	p.Q2732Q	EP400_uc021rgq.1_Silent_p.Q2731Q|EP400_uc001ujm.3_Silent_p.Q2651Q|EP400_uc001ujp.3_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2768	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcagcagcagc	0.587													4	67					0	0	1	0	0	A	132547108	G	A	132547108	2	1	275	1	0	0	0	0	0	0	0	1	5149	962	34	3		3	EP400	12	132547108	Silent	SNP	G	TCGA-P5-A5ET-01A-11D-A27K-08	110750080	132547108	1304787	24	11895											
ZFP106	64397	broad.mit.edu	37	chr15	42731630	42731632	+	In_Frame_Del	DEL	TTC	TTC	-																															catgggcagcccgtagacttTtcttcttccggagtttcttc																										TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr15:42731630_42731632delTTC	uc001zpw.3	-	7	4401_4403	c.4074_4076delGAA	c.(4072-4077)aagaaa>aaa	p.1358_1359KK>K	ZFP106_uc001zpu.3_In_Frame_Del_p.456_457KK>K|ZFP106_uc001zpv.3_In_Frame_Del_p.543_544KK>K|ZFP106_uc001zpx.3_In_Frame_Del_p.586_587KK>K	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA.	1358						nucleolus	zinc ion binding	p.K1358K(2)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	61		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		CCGTAGACTTTTCTTCTTCCGGA	0.438													8	230	---	---	---	---						-	42731632	TTC	-	42731630	7	5	275	1	0	1	0	1	0	0	0	0	17634	1841	64	0	1623	0	ZFP106	15	42731630	In_Frame_Del	DEL	TTC	TCGA-P5-A5ET-01A-11D-A27K-08		42731630	59799762	25	11896											
JPH3	57338	broad.mit.edu	37	chr16	87678405	87678405	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgagccagcgctcggacggGctcaagtacgagggcgagtg	8	5	18	10	5	1	1	1	1	0	0	2	4	1	2	1	3	3	3	1	3	2	1			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr16:87678405G>A	uc002fkd.3	+	1	1178	c.924G>A	c.(922-924)ggG>ggA	p.G308G	JPH3_uc010vou.1_Non-coding_Transcript	NM_020655	NP_065706	Q8WXH2	JPH3_HUMAN	Homo sapiens junctophilin 3 (JPH3), mRNA.	308					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GCTCGGACGGGCTCAAGTACG	0.642													4	101					0	0	1	0	0	A	87678405	G	A	87678405	2	1	275	1	0	0	0	0	0	0	0	1	7962	1190	42	3		3	JPH3	16	87678405	Silent	SNP	G	TCGA-P5-A5ET-01A-11D-A27K-08		87678405	2676348	26	11897											
MLLT6	4302	broad.mit.edu	37	chr17	36872811	36872811	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggcccatcatgcgcttcTccaccaccacctccagctca	7	9	6	19	1	3	0	2	0	1	0	5	0	4	0	6	1	2	2	6	1	0	2			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr17:36872811T>A	uc002hqi.4	+	9	1241	c.1228T>A	c.(1228-1230)Tcc>Acc	p.S410T	MLLT6_uc002hqj.3_Intron|MLLT6_uc002hqk.4_5'Flank	NM_005937	NP_005928	P55198	AF17_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (MLLT6), mRNA.	410					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CATGCGCTTCTCCACCACCAC	0.662			T	MLL	AL								38	78					0	0	1	0	0	A	36872811	T	A	36872811	3	1	275	1	0	0	0	0	1	0	0	0	9630	1551	54	5	1266	5	MLLT6	17	36872811	Missense_Mutation	SNP	T	TCGA-P5-A5ET-01A-11D-A27K-08		36872811	44322399	27	11898											
COIL	8161	broad.mit.edu	37	chr17	55038183	55038183	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcgctctcggcggggggCaagagccccccctccaggta	5	4	15	17	5	1	1	0	0	1	1	3	1	2	1	4	5	1	3	4	5	2	1			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr17:55038183C>G	uc002iuu.3	-	0	229	c.198G>C	c.(196-198)ttG>ttC	p.L66F		NM_004645	NP_004636	P38432	COIL_HUMAN	Homo sapiens coilin (COIL), mRNA.	66						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					CGGCGGGGGGCAAGAGCCCCC	0.697													7	10					0	0	1	0	0	G	55038183	C	G	55038183	3	3	275	1	0	0	0	0	1	0	0	0	3665	709	25	5	1560	5	COIL	17	55038183	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08	18165372	55038183	26157027	28	11899											
TANC2	26115	broad.mit.edu	37	chr17	61498201	61498201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgagaagtaaccagcccagcCcagccgtccattcaagcacc	12	5	8	16	1	1	1	1	1	0	1	2	2	2	1	6	0	5	2	6	0	3	2			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr17:61498201C>T	uc002jal.4	+	24	4881	c.4858C>T	c.(4858-4860)Cca>Tca	p.P1620S	TANC2_uc010wpe.2_3'UTR|TANC2_uc002jao.4_Missense_Mutation_p.P731S	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	1620							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CCAGCCCAGCCCAGCCGTCCA	0.577													44	110					0	0	1	0	0	T	61498201	C	T	61498201	3	4	275	1	0	0	0	0	1	0	0	0	15542	623	22	3	4956	3	TANC2	17	61498201	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08	6460018	61498201	19697009	29	11900											
AMZ2	51321	broad.mit.edu	37	chr17	66246612	66246612	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catttatatacagtccattgGtaaatactggtaatgtgctg	12	15	8	6	0	0	0	0	0	0	0	1	0	1	0	1	2	3	3	1	2	7	8			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr17:66246612G>A	uc002jgt.1	+	3	428	c.283_splice	c.e3+1	p.G95_splice	AMZ2_uc002jgs.1_Splice_Site_p.G95_splice|AMZ2_uc002jgr.1_Splice_Site_p.G95_splice|AMZ2_uc002jgu.1_Splice_Site_p.G95_splice|AMZ2_uc002jgv.1_Splice_Site_p.G95_splice|AMZ2_uc002jgw.1_Splice_Site_p.G95_splice|AMZ2_uc002jgy.1_Splice_Site_p.G95_splice	NM_001033570	NP_057711	Q86W34	AMZ2_HUMAN	Homo sapiens archaelysin family metallopeptidase 2 (AMZ2), transcript variant 3, mRNA.	95							metallopeptidase activity|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGTCCATTGGTAAATACTGG	0.463													13	145					0	0	1	0	0	A	66246612	G	A	66246612	5	1	275	1	0	0	0	0	0	0	1	0	597	1275	44	3	286	3	AMZ2	17	66246612	Splice_Site	SNP	G	TCGA-P5-A5ET-01A-11D-A27K-08	4748411	66246612	14948598	30	11901											
SLC38A10	124565	broad.mit.edu	37	chr17	79219799	79219799	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggtccagccggtggccctGctgtccaccctgctcgccat	4	9	11	17	2	0	0	0	0	0	0	3	0	2	0	6	3	3	2	6	3	0	0			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr17:79219799G>A	uc002jzz.1	-	15	3292	c.2917C>T	c.(2917-2919)Cag>Tag	p.Q973*	SLC38A10_uc002jzy.1_Nonsense_Mutation_p.Q891*|SLC38A10_uc021uey.1_Nonsense_Mutation_p.Q48*	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	973					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CGGTGGCCCTGCTGTCCACCC	0.692													34	48					0	0	1	0	0	A	79219799	G	A	79219799	4	1	275	1	0	0	0	0	0	1	0	0	14602	1328	46	3	446	3	SLC38A10	17	79219799	Nonsense_Mutation	SNP	G	TCGA-P5-A5ET-01A-11D-A27K-08	12973187	79219799	1975411	31	11902											
DOT1L	84444	broad.mit.edu	37	chr19	2226268	2226268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaccttctcgcccatctccGacatcggcctggccaagtcg	6	8	8	19	4	2	0	0	0	2	0	6	1	2	0	6	2	0	0	6	2	1	1			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr19:2226268G>A	uc002lvc.1	+	12	2397	c.1630G>A	c.(1630-1632)Gac>Aac	p.D544N	DOT1L_uc002lvb.4_Missense_Mutation_p.D1250N	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	1250						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		GCCCATCTCCGACATCGGCCT	0.677													3	31					0	0	1	0	0	A	2226268	G	A	2226268	3	1	275	1	0	0	0	0	1	0	0	0	4709	1058	37	2	3854	2	DOT1L	19	2226268	Missense_Mutation	SNP	G	TCGA-P5-A5ET-01A-11D-A27K-08		2226268	56902715	32	11903											
PRR19	284338	broad.mit.edu	37	chr19	42814088	42814088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagggcccaggaaccagccCcacggtccagggacaaagag	12	1	14	14	1	0	1	0	0	0	1	1	3	1	3	5	4	2	1	5	4	2	0			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr19:42814088C>T	uc002oti.3	+	1	730	c.352C>T	c.(352-354)Cca>Tca	p.P118S	PRR19_uc002oth.1_Missense_Mutation_p.P118S|PRR19_uc002otj.3_Missense_Mutation_p.P118S	NM_199285	NP_954979	A6NJB7	PRR19_HUMAN	Homo sapiens proline rich 19 (PRR19), mRNA.	118										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				GGAACCAGCCCCACGGTCCAG	0.672													5	22					0	0	1	0	0	T	42814088	C	T	42814088	3	4	275	1	0	0	0	0	1	0	0	0	12591	623	22	3	354	3	PRR19	19	42814088	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08	40587820	42814088	16314895	33	11904											
TBC1D10A	83874	broad.mit.edu	37	chr22	30683477	30683477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcagcctgcactgccgcaCcgctgtgagacgacacgttc	8	6	11	16	4	0	1	0	1	0	1	1	3	0	1	3	0	4	5	3	0	0	1			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr22:30683477C>T	uc003ahi.3	-	7	893	c.776G>A	c.(775-777)gGt>gAt	p.G259D	TBC1D10A_uc003ahd.3_Missense_Mutation_p.G86D|TBC1D10A_uc003ahf.3_Non-coding_Transcript|TBC1D10A_uc003ahg.3_Non-coding_Transcript|TBC1D10A_uc003ahh.3_Non-coding_Transcript|TBC1D10A_uc010gvq.3_Non-coding_Transcript|TBC1D10A_uc010gvr.3_5'UTR|TBC1D10A_uc010gvs.2_5'UTR	NM_031937	NP_114143	Q9BXI6	TB10A_HUMAN	Homo sapiens TBC1 domain family, member 10A (TBC1D10A), transcript variant 2, mRNA.	0	Rab-GAP TBC.					intracellular|microvillus	PDZ domain binding|Rab GTPase activator activity|guanyl-nucleotide exchange factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CACTGCCGCACCGCTGTGAGA	0.627											OREG0026457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	21	35					0	0	1	0	0	T	30683477	C	T	30683477	3	4	275	1	0	0	0	0	1	0	0	0	15595	507	18	3		3	TBC1D10A	22	30683477	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08		30683477	20621089	34	11905											
ZBED1	9189	broad.mit.edu	37	chrX	2406764	2406764	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctggtccaggccccacTccccctcgtcctggtcctcg	2	9	9	21	2	0	0	0	0	0	0	7	0	5	0	8	3	0	1	8	3	0	0			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chrX:2406764T>C	uc022brx.1	-	0	1997	c.1997A>G	c.(1996-1998)gAg>gGg	p.E666G	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Missense_Mutation_p.E666G|ZBED1_uc004cqg.2_Missense_Mutation_p.E666G|ZBED1_uc022brw.1_Missense_Mutation_p.E666G	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	666						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGGCCCCACTCCCCCTCGTC	0.647													4	144					0	0	1	0	0	C	2406764	T	C	2406764	3	2	275	1	0	0	0	0	1	0	0	0	17514	1551	54	4	91	4	ZBED1	23	2406764	Missense_Mutation	SNP	T	TCGA-P5-A5ET-01A-11D-A27K-08		2406764	152863796	35	11906											
C8A	731	broad.mit.edu	37	chr1	57341750	57341750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtcgctgcctgaaacGccaccttgtgtgtaatggag	8	10	12	11	2	0	1	0	1	0	0	2	2	1	2	4	2	2	2	4	2	2	2			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr1:57341750G>A	uc001cyo.2	+	3	464	c.332G>A	c.(331-333)cGc>cAc	p.R111H		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	111	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TGCCTGAAACGCCACCTTGTG	0.542													16	38					0	0	1	0	0	A	57341750	G	A	57341750	3	1	276	1	0	0	0	0	1	0	0	0	2416	1087	38	1	346	1	C8A	1	57341750	Missense_Mutation	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08		57341750	191908871	1	11907											
RPE65	6121	broad.mit.edu	37	chr1	68904625	68904625	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtccagtgtcctttcttacCctttccagcagcagagatcc	7	13	7	14	0	1	1	0	0	1	1	5	2	5	1	5	0	3	2	5	0	1	3			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr1:68904625C>A	uc001dei.1	-	9	1052	c.998_splice	c.e9+1	p.G333_splice		NM_000329	NP_000320	Q16518	RPE65_HUMAN	Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.	333					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CCTTTCTTACCCTTTCCAGCA	0.423													124	190					6.74356e-53	7.30552e-53	1	1	0	A	68904625	C	A	68904625	5	1	276	1	0	0	0	0	0	0	1	0	13545	637	22	5	627	5	RPE65	1	68904625	Splice_Site	SNP	C	TCGA-P5-A5EU-01A-11D-A27K-08	11562875	68904625	180345996	2	11908											
VAV3	10451	broad.mit.edu	37	chr1	108507542	108507544	+	Splice_Site	DEL	GCC	GCC	-																															gggcgggcggcaaggatgcgGccgccgccgccgccgccgcg																								rs71796067		TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr1:108507542_108507544delGCC	uc001dvk.1	-	1	1	c.-53_splice	c.e1-1		VAV3_uc010ouw.1_Splice_Site|VAV3_uc001dvl.1_5'Flank|VAV3_uc010oux.1_Splice_Site	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.						B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CAAGGATGCGgccgccgccgccg	0.773													6	7	---	---	---	---						-	108507544	GCC	-	108507542	8	5	276	1	0	1	0	1	0	0	1	0	17130	1218	42	0		0	VAV3	1	108507542	Splice_Site	DEL	GCC	TCGA-P5-A5EU-01A-11D-A27K-08	39602917	108507542	140743079	3	11909											
RSBN1	54665	broad.mit.edu	37	chr1	114308980	114308980	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaatgacatttctagggatGaagtagatatcattgtcgca	13	13	10	5	1	2	4	1	3	1	1	3	5	2	5	0	1	0	2	0	1	5	5			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr1:114308980G>A	uc001edq.3	-	6	2067	c.2031C>T	c.(2029-2031)ttC>ttT	p.F677F	RSBN1_uc001edr.3_Non-coding_Transcript	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	Homo sapiens round spermatid basic protein 1 (RSBN1), mRNA.	677						nucleus		p.F677F(2)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCTAGGGATGAAGTAGATAT	0.443													39	62					0	0	1	0	0	A	114308980	G	A	114308980	2	1	276	1	0	0	0	0	0	0	0	1	13696	1281	45	3		3	RSBN1	1	114308980	Silent	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08	5801438	114308980	134941641	4	11910											
MPZ	4359	broad.mit.edu	37	chr1	161275672	161275672	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggcccgctaaccgctatttCttatccttgcgagactcccc	6	11	7	17	4	1	1	0	0	1	1	3	2	3	1	5	1	2	2	5	1	3	5			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr1:161275672C>T	uc001gaf.4	-	5	808	c.741G>A	c.(739-741)aaG>aaA	p.K247K		NM_000530	NP_000521	P25189	MYP0_HUMAN	Homo sapiens myelin protein zero (MPZ), mRNA.	247					synaptic transmission	integral to plasma membrane	structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			ACCGCTATTTCTTATCCTTGC	0.592													44	58					0	0	1	0	0	T	161275672	C	T	161275672	2	4	276	1	0	0	0	0	0	0	0	1	9748	912	32	3		3	MPZ	1	161275672	Silent	SNP	C	TCGA-P5-A5EU-01A-11D-A27K-08	46966692	161275672	87974949	5	11911											
APOB	338	broad.mit.edu	37	chr2	21225141	21225141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggatcaaaatattcttcacGaagggccataatgtattgat	14	13	8	6	1	3	1	2	1	1	0	3	3	3	2	1	2	0	1	1	2	6	6			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr2:21225141G>A	uc002red.3	-	28	13281	c.13153C>T	c.(13153-13155)Cgt>Tgt	p.R4385C		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4385					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TATTCTTCACGAAGGGCCATA	0.363													24	42					0	0	1	0	0	A	21225141	G	A	21225141	3	1	276	1	0	0	0	0	1	0	0	0	785	1058	37	2	542	2	APOB	2	21225141	Missense_Mutation	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08		21225141	221974232	6	11912											
ZAP70	7535	broad.mit.edu	37	chr2	98354121	98354121	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgggtgccgacgacagctActacactgtaagcctctgcc	9	8	10	14	2	1	0	0	0	1	0	1	2	1	0	3	1	6	2	3	1	3	3			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr2:98354121A>G	uc002syd.1	+	10	1682	c.1475A>G	c.(1474-1476)tAc>tGc	p.Y492C	ZAP70_uc002sye.1_Missense_Mutation_p.Y382C|ZAP70_uc002syf.1_Missense_Mutation_p.Y185C	NM_001079	NP_997402	P43403	ZAP70_HUMAN	Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA.	492	Protein kinase.				T cell receptor signaling pathway|immune response|intracellular protein kinase cascade|positive thymic T cell selection	T cell receptor complex|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GACGACAGCTACTACACTGTA	0.637													30	46					0	0	1	0	0	G	98354121	A	G	98354121	3	3	276	1	0	0	0	0	1	0	0	0	17511	391	14	3	1509	3	ZAP70	2	98354121	Missense_Mutation	SNP	A	TCGA-P5-A5EU-01A-11D-A27K-08	77128980	98354121	144845252	7	11913											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								30	48					0	0	1	0	0	T	209113112	C	T	209113112	3	4	276	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A5EU-01A-11D-A27K-08	110758991	209113112	34086261	8	11914											
OTOS	150677	broad.mit.edu	37	chr2	241079506	241079506	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgcacaggcttggcccCtgcaaaggaagagaagagct	11	6	12	12	0	0	2	0	0	0	2	1	4	1	3	3	3	3	4	3	3	3	1			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr2:241079506C>T	uc002vyv.3	-	3	214	c.59_splice	c.e3-1	p.G20_splice		NM_148961	NP_683764	Q8NHW6	OTOSP_HUMAN	Homo sapiens otospiralin (OTOS), mRNA.	20						extracellular region				endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		GGCTTGGCCCCTGCAAAGGAA	0.572													23	8					0	0	1	0	0	T	241079506	C	T	241079506	5	4	276	1	0	0	0	0	0	0	1	0	11309	695	24	3	219	3	OTOS	2	241079506	Splice_Site	SNP	C	TCGA-P5-A5EU-01A-11D-A27K-08	31966394	241079506	2119867	9	11915											
RTP2	344892	broad.mit.edu	37	chr3	187416395	187416395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagttgtagccggatcccGcctgggccctcggcttggag	6	8	15	12	3	0	1	0	0	0	1	2	3	1	3	4	4	1	3	4	4	2	3			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr3:187416395G>A	uc003fro.1	-	1	998	c.569C>T	c.(568-570)gCg>gTg	p.A190V		NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 2 (RTP2), mRNA.	190					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		GCCGGATCCCGCCTGGGCCCT	0.612													47	75					0	0	1	0	0	A	187416395	G	A	187416395	3	1	276	1	0	0	0	0	1	0	0	0	13734	1087	38	1	112	1	RTP2	3	187416395	Missense_Mutation	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08		187416395	10606035	10	11916											
GPR78	27201	broad.mit.edu	37	chr4	8583134	8583134	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggccttctcaggcgctgcacTtggctgctcgtggcttggct	2	12	14	13	2	1	0	1	0	1	0	3	0	1	0	1	5	2	6	1	5	0	3			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr4:8583134T>G	uc003glk.3	+	0	918	c.425T>G	c.(424-426)cTt>cGt	p.L142R	GPR78_uc021xlj.1_Intron|CPZ_uc003gll.3_Non-coding_Transcript	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA.	142					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L142H(2)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						GGCGCTGCACTTGGCTGCTCG	0.711													13	20					0	0	1	0	0	G	8583134	T	G	8583134	3	3	276	1	0	0	0	0	1	0	0	0	6710	1609	56	5	427	5	GPR78	4	8583134	Missense_Mutation	SNP	T	TCGA-P5-A5EU-01A-11D-A27K-08		8583134	182571142	11	11917											
PIK3R1	5295	broad.mit.edu	37	chr5	67591097	67591097	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaattgacaaacgtatgAacagcattaaaccagacctt	18	8	7	8	1	0	4	0	2	0	2	0	5	0	4	2	0	4	2	2	0	6	4			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr5:67591097A>G	uc003jva.3	+	12	2270	c.1690A>G	c.(1690-1692)Aac>Gac	p.N564D	PIK3R1_uc003jvc.3_Missense_Mutation_p.N264D|PIK3R1_uc003jvd.3_Missense_Mutation_p.N294D|PIK3R1_uc003jve.3_Missense_Mutation_p.N243D|PIK3R1_uc021xzn.1_Missense_Mutation_p.N201D|PIK3R1_uc011crb.2_Missense_Mutation_p.N234D	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	564					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.N564D(8)|p.D560_S565del(2)|p.N564K(2)|p.R562_M563ins13(1)|p.0?(1)|p.?(1)|p.N564fs*?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAAACGTATGAACAGCATTAA	0.373			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			52	51					0	0	1	0	0	G	67591097	A	G	67591097	3	3	276	1	0	0	0	0	1	0	0	0	11918	246	9	3	1866	3	PIK3R1	5	67591097	Missense_Mutation	SNP	A	TCGA-P5-A5EU-01A-11D-A27K-08		67591097	113324163	12	11918											
ANKRD34B	340120	broad.mit.edu	37	chr5	79854526	79854526	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtttgggtaacactgtgaTctaaagggaaagctcctgaa	12	11	12	6	0	1	2	0	2	1	0	2	3	2	3	1	3	2	3	1	3	5	3			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr5:79854526T>C	uc010jam.3	-	3	1663	c.1313A>G	c.(1312-1314)gAt>gGt	p.D438G	ANKRD34B_uc003kgw.3_Missense_Mutation_p.D438G|ANKRD34B_uc010jan.3_Missense_Mutation_p.D438G|ANKRD34B_uc021yax.1_Missense_Mutation_p.D438G	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN	Homo sapiens ankyrin repeat domain 34B (ANKRD34B), mRNA.	438						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		AACACTGTGATCTAAAGGGAA	0.453													75	109					0	0	1	0	0	C	79854526	T	C	79854526	3	2	276	1	0	0	0	0	1	0	0	0	663	1435	50	3	235	3	ANKRD34B	5	79854526	Missense_Mutation	SNP	T	TCGA-P5-A5EU-01A-11D-A27K-08	12263429	79854526	101060734	13	11919											
STX11	8676	broad.mit.edu	37	chr6	144508400	144508400	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatcgagagccgccaccgCgaactgctgcgcctggagag	9	4	15	13	5	0	3	0	0	0	3	1	7	0	3	4	1	4	1	4	1	1	0			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr6:144508400C>T	uc003qks.4	+	1	828	c.636C>T	c.(634-636)cgC>cgT	p.R212R	STX11_uc021zgk.1_Silent_p.R212R	NM_003764	NP_003755	O75558	STX11_HUMAN	Homo sapiens syntaxin 11 (STX11), mRNA.	212	t-SNARE coiled-coil homology.			ARAALNEIESRHRELLRLESR -> RGPPTTRSRAATANCC AWRAA (in Ref. 2; AAC24031).	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GCCGCCACCGCGAACTGCTGC	0.637									Familial Hemophagocytic Lymphohistiocytosis				40	14					0	0	1	0	0	T	144508400	C	T	144508400	2	4	276	1	0	0	0	0	0	0	0	1	15336	755	27	1		1	STX11	6	144508400	Silent	SNP	C	TCGA-P5-A5EU-01A-11D-A27K-08		144508400	26606667	14	11920											
AEBP1	165	broad.mit.edu	37	chr7	44151920	44151920	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacctttcgccagatgccacGgtgaggctacagcctggctg	7	9	12	13	2	0	2	0	1	0	1	1	2	0	2	4	3	4	2	4	3	2	3			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr7:44151920G>A	uc003tkb.3	+	17	2522	c.2217_splice	c.e17+1	p.T739_splice	AEBP1_uc003tkc.4_Splice_Site_p.T314_splice|AEBP1_uc003tkd.3_Splice_Site	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	Homo sapiens AE binding protein 1 (AEBP1), mRNA.	739	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CAGATGCCACGGTGAGGCTAC	0.622													4	75					0	0	1	0	0	A	44151920	G	A	44151920	5	1	276	1	0	0	0	0	0	0	1	0	349	1130	39	2	2283	2	AEBP1	7	44151920	Splice_Site	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08		44151920	114986743	15	11921											
MUC17	140453	broad.mit.edu	37	chr7	100679199	100679199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atctcctacacctgctgaagGtaccagcatagcaatctcaa	13	9	6	13	0	2	1	1	1	2	0	4	1	2	1	3	1	5	4	3	1	6	3			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr7:100679199G>A	uc003uxp.1	+	2	4555	c.4502G>A	c.(4501-4503)gGt>gAt	p.G1501D	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1501	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTGCTGAAGGTACCAGCATA	0.478													6	337					0	0	1	0	0	A	100679199	G	A	100679199	3	1	276	1	0	0	0	0	1	0	0	0	9974	1261	44	3	4512	3	MUC17	7	100679199	Missense_Mutation	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08	56527279	100679199	58459464	16	11922											
PCM1	5108	broad.mit.edu	37	chr8	17829972	17829972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaatctacaagtagtaaccGcaaaaatcaattagatacaa	22	8	4	7	1	2	1	1	0	1	1	2	1	2	1	1	0	3	3	1	0	12	5			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr8:17829972G>A	uc022asj.1	+	21	3858	c.3836G>A	c.(3835-3837)cGc>cAc	p.R1279H	PCM1_uc003wyi.4_Missense_Mutation_p.R1240H|PCM1_uc011kyh.2_Missense_Mutation_p.R1240H|PCM1_uc003wyj.4_Missense_Mutation_p.R1241H|PCM1_uc011kyi.2_Missense_Mutation_p.R102H|PCM1_uc011kyj.2_5'UTR|PCM1_uc003wyk.4_5'UTR	NM_006197	NP_006188	Q15154	PCM1_HUMAN	Homo sapiens pericentriolar material 1 (PCM1), mRNA.	1240	Interaction with HAP1.				G2/M transition of mitotic cell cycle|centrosome organization|cilium assembly|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AGTAGTAACCGCAAAAATCAA	0.383			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								3	52					0	0	1	0	0	A	17829972	G	A	17829972	3	1	276	1	0	0	0	0	1	0	0	0	11584	1087	38	1	3801	1	PCM1	8	17829972	Missense_Mutation	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08		17829972	128534050	17	11923											
TOP1MT	116447	broad.mit.edu	37	chr8	144392244	144392244	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaggcacacgcaccaggcaAtgctgatcctggggtccagg	9	5	13	14	1	0	1	0	1	0	0	2	1	2	1	4	5	1	4	4	5	1	0			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr8:144392244A>G	uc003yxz.3	-	12	1716	c.1697T>C	c.(1696-1698)aTt>aCt	p.I566T	TOP1MT_uc011lkd.2_Missense_Mutation_p.I468T|TOP1MT_uc011lke.2_Missense_Mutation_p.I468T|TOP1MT_uc011lkf.2_Missense_Mutation_p.I361T	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	Homo sapiens topoisomerase (DNA) I, mitochondrial (TOP1MT), nuclear gene encoding mitochondrial protein, mRNA.	566					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	GCACCAGGCAATGCTGATCCT	0.627													47	79					0	0	1	0	0	G	144392244	A	G	144392244	3	3	276	1	0	0	0	0	1	0	0	0	16361	101	4	3	116	3	TOP1MT	8	144392244	Missense_Mutation	SNP	A	TCGA-P5-A5EU-01A-11D-A27K-08	126562272	144392244	1971778	18	11924											
EPPK1	83481	broad.mit.edu	37	chr8	144942913	144942913	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgaccagggtggtgactgcGctgaccacctgccgcagggc	6	6	15	14	3	0	2	0	2	0	0	1	3	0	2	4	3	2	2	4	3	0	0			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr8:144942913G>A	uc003zaa.1	-	0	4522	c.4509C>T	c.(4507-4509)agC>agT	p.S1503S		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1503						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGTGACTGCGCTGACCACCT	0.687													4	8					0	0	1	0	0	A	144942913	G	A	144942913	2	1	276	1	0	0	0	0	0	0	0	1	5190	1078	38	1		1	EPPK1	8	144942913	Silent	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08	550669	144942913	1421109	19	11925											
OR4C13	283092	broad.mit.edu	37	chr11	49974106	49974106	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataggaaatgtgctcattgtGgtcaccatcactgccagccc	10	10	9	12	0	3	0	3	0	0	0	3	1	3	1	3	2	3	1	3	2	2	2			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr11:49974106G>T	uc010rhz.2	+	0	164	c.132G>T	c.(130-132)gtG>gtT	p.V44V		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TGCTCATTGTGGTCACCATCA	0.428													120	155					8.41509e-73	9.31031e-73	1	1	0	T	49974106	G	T	49974106	2	4	276	1	0	0	0	0	0	0	0	1	11047	1335	47	5		5	OR4C13	11	49974106	Silent	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08		49974106	85032410	20	11926											
DAGLA	747	broad.mit.edu	37	chr11	61504678	61504678	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggaaccaaacactacggcCtgattgtggtgggccactcc	9	7	12	13	2	0	1	0	1	0	0	1	2	1	2	4	4	3	0	4	4	3	2			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr11:61504678C>G	uc001nsa.3	+	13	1512	c.1396C>G	c.(1396-1398)Ctg>Gtg	p.L466V		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	466					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		ACACTACGGCCTGATTGTGGT	0.637													135	177					0	0	1	0	0	G	61504678	C	G	61504678	3	3	276	1	0	0	0	0	1	0	0	0	4226	680	24	5	1446	5	DAGLA	11	61504678	Missense_Mutation	SNP	C	TCGA-P5-A5EU-01A-11D-A27K-08	11530572	61504678	73501838	21	11927											
GXYLT1	283464	broad.mit.edu	37	chr12	42512817	42512817	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttactctgcctttaaagctAtgatgtagctgatcttcagc	9	15	7	10	0	3	2	1	2	2	0	3	2	3	2	1	0	5	3	1	0	5	6	rs115323055	by1000genomes	TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr12:42512817A>G	uc001rms.4	-	2	696	c.471T>C	c.(469-471)caT>caC	p.H157H	GXYLT1_uc001rmt.4_Silent_p.H126H	NM_173601	NP_775872	Q4G148	GXLT1_HUMAN	Homo sapiens glucoside xylosyltransferase 1 (GXYLT1), transcript variant 1, mRNA.	157					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						CTTTAAAGCTATGATGTAGCT	0.323													4	25					0	0	1	0	0	G	42512817	A	G	42512817	2	3	276	1	0	0	0	0	0	0	0	1	6903	446	16	3		3	GXYLT1	12	42512817	Silent	SNP	A	TCGA-P5-A5EU-01A-11D-A27K-08		42512817	91339078	22	11928											
AMIGO2	347902	broad.mit.edu	37	chr12	47471391	47471391	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggttccaaaaacaccacTcttttacctgcacctgcctt	10	11	6	14	0	1	0	0	0	1	0	2	0	2	0	5	2	4	2	5	2	3	4			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr12:47471391T>A	uc001rpm.3	-	2	2050	c.1395A>T	c.(1393-1395)agA>agT	p.R465S	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Missense_Mutation_p.R465S|AMIGO2_uc001rpl.3_Missense_Mutation_p.R465S|AMIGO2_uc021qxg.1_Missense_Mutation_p.R465S	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	465					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					AAAACACCACTCTTTTACCTG	0.522													28	7					0	0	1	0	0	A	47471391	T	A	47471391	3	1	276	1	0	0	0	0	1	0	0	0	576	1548	54	5	177	5	AMIGO2	12	47471391	Missense_Mutation	SNP	T	TCGA-P5-A5EU-01A-11D-A27K-08	4958574	47471391	86380504	23	11929											
PLCB2	5330	broad.mit.edu	37	chr15	40584082	40584082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctcgttggggccaacgccCcattgacctggctggcaact	6	9	12	14	2	0	1	0	1	0	0	1	1	0	1	4	4	3	4	4	4	2	2			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr15:40584082C>T	uc001zld.3	-	23	2871	c.2570G>A	c.(2569-2571)gGg>gAg	p.G857E	PLCB2_uc001zlc.3_5'Flank|PLCB2_uc010bbo.3_Missense_Mutation_p.G853E|PLCB2_uc010ucm.2_Missense_Mutation_p.G857E	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	857					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGCCAACGCCCCATTGACCTG	0.622													22	12					0	0	1	0	0	T	40584082	C	T	40584082	3	4	276	1	0	0	0	0	1	0	0	0	12028	623	22	3	1023	3	PLCB2	15	40584082	Missense_Mutation	SNP	C	TCGA-P5-A5EU-01A-11D-A27K-08		40584082	61947310	24	11930											
TP53	7157	broad.mit.edu	37	chr17	7578280	7578280	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcggataagatgctgaggaGgggccagacctaagagcaat	13	6	14	8	1	0	4	0	1	0	3	1	6	0	6	2	4	2	2	2	4	3	2			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr17:7578280G>C	uc002gim.2	-	5	763	c.569C>G	c.(568-570)cCt>cGt	p.P190R	TP53_uc002gig.1_Missense_Mutation_p.P190R|TP53_uc002gih.3_Missense_Mutation_p.P190R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.P58R|TP53_uc010cnf.1_Missense_Mutation_p.P58R|TP53_uc002gii.1_Missense_Mutation_p.P58R|TP53_uc010cni.1_Missense_Mutation_p.P190R|TP53_uc010cnh.1_Missense_Mutation_p.P190R|TP53_uc002gij.2_Missense_Mutation_p.P190R|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.P97R|TP53_uc002gio.2_Missense_Mutation_p.P58R|TP53_uc010vug.2_Missense_Mutation_p.P151R	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	190	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P190L(43)|p.P190fs*57(12)|p.P190del(12)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.?(7)|p.P190S(6)|p.P190F(4)|p.A189V(4)|p.P190R(4)|p.P190T(4)|p.A189T(3)|p.A189_Q192>E(2)|p.G187fs*16(2)|p.D186_P191delDGLAPP(2)|p.P190A(2)|p.A189P(2)|p.A189fs*53(2)|p.P190H(2)|p.A189G(2)|p.A189A(2)|p.L188_P191del(2)|p.A189_P190>X(2)|p.K164_P219del(1)|p.P58fs*>33(1)|p.P190P(1)|p.P191fs*18(1)|p.A189S(1)|p.P190fs*19(1)|p.A189fs*19(1)|p.A189fs*58(1)|p.A189D(1)|p.P97fs*57(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)		ATGCTGAGGAGGGGCCAGACC	0.552		111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	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)			57	10					0	0	1	0	0	C	7578280	G	C	7578280	3	2	276	1	0	0	0	0	1	0	0	0	16378	1000	35	5	725	5	TP53	17	7578280	Missense_Mutation	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08		7578280	73616930	25	11931											
SLFN12	55106	broad.mit.edu	37	chr17	33738559	33738559	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtaaattacttgcgaccttAaatcatactggcagcttgtc	11	13	8	9	1	1	0	1	0	0	0	2	1	1	0	1	2	4	3	1	2	6	6			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr17:33738559A>C	uc002hji.4	-	3	1912	c.1535T>G	c.(1534-1536)tTa>tGa	p.L512*	SLFN12_uc002hjj.4_Nonsense_Mutation_p.L512*|SLFN12_uc010cts.3_Nonsense_Mutation_p.L512*	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	Homo sapiens schlafen family member 12 (SLFN12), mRNA.	512							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTGCGACCTTAAATCATACTG	0.393													4	92					0	0	1	0	0	C	33738559	A	C	33738559	4	2	276	1	0	0	0	0	0	1	0	0	14734	372	13	5	205	5	SLFN12	17	33738559	Nonsense_Mutation	SNP	A	TCGA-P5-A5EU-01A-11D-A27K-08	26160279	33738559	47456651	26	11932											
KRT15	3866	broad.mit.edu	37	chr17	39673389	39673389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgatctccaggatgaccCgggagttgtcgatggtggtg	6	11	16	8	3	1	1	0	1	1	0	4	5	1	3	2	4	0	1	2	4	0	1			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr17:39673389C>T	uc002hwy.3	-	1	718	c.527G>A	c.(526-528)cGg>cAg	p.R176Q	KRT15_uc002hwz.3_Missense_Mutation_p.G39R|KRT15_uc002hxa.3_Intron|KRT15_uc002hxb.1_Intron	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	176	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CAGGATGACCCGGGAGTTGTC	0.597													60	113					0	0	1	0	0	T	39673389	C	T	39673389	3	4	276	1	0	0	0	0	1	0	0	0	8452	652	23	2	871	2	KRT15	17	39673389	Missense_Mutation	SNP	C	TCGA-P5-A5EU-01A-11D-A27K-08	5934830	39673389	41521821	27	11933											
NT5C	30833	broad.mit.edu	37	chr17	73127345	73127345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctccaggtccaggaaaaagCccggggcttcgtacacactg	10	6	12	13	2	0	0	0	0	0	0	3	1	2	1	3	4	2	3	3	4	3	2			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr17:73127345C>T	uc002jmx.3	-	1	294	c.206G>A	c.(205-207)gGc>gAc	p.G69D	NT5C_uc002jmy.3_Non-coding_Transcript|NT5C_uc021ucw.1_Missense_Mutation_p.G69D	NM_014595	NP_055410	Q8TCD5	NT5C_HUMAN	Homo sapiens 5', 3'-nucleotidase, cytosolic (NT5C), transcript variant 1, mRNA.	69					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine deoxyribonucleotide catabolic process|pyrimidine nucleoside catabolic process	cytosol|nucleus	5'-nucleotidase activity|metal ion binding|pyrimidine nucleotide binding					all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			CAGGAAAAAGCCCGGGGCTTC	0.652													49	63					0	0	1	0	0	T	73127345	C	T	73127345	3	4	276	1	0	0	0	0	1	0	0	0	10684	739	26	3	415	3	NT5C	17	73127345	Missense_Mutation	SNP	C	TCGA-P5-A5EU-01A-11D-A27K-08	33453956	73127345	8067865	28	11934											
DSG4	147409	broad.mit.edu	37	chr18	28993042	28993042	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaatcagtactgacctcccTttgctcggacctaattactt	9	13	5	14	1	1	1	1	1	0	0	3	2	2	2	4	1	3	2	4	1	4	5			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr18:28993042T>A	uc002kwr.2	+	14	2799	c.2664T>A	c.(2662-2664)ccT>ccA	p.P888P	DSG4_uc002kwq.2_Silent_p.P869P	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	869					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTGACCTCCCTTTGCTCGGAC	0.418													71	100					0	0	1	0	0	A	28993042	T	A	28993042	2	1	276	1	0	0	0	0	0	0	0	1	4779	1596	56	5		5	DSG4	18	28993042	Silent	SNP	T	TCGA-P5-A5EU-01A-11D-A27K-08		28993042	49084206	29	11935											
TSHZ2	128553	broad.mit.edu	37	chr20	51872176	51872176	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaagttcaagcacaattTccatgttccacaagtcgaat	13	10	6	12	1	1	0	1	0	0	0	4	1	3	0	3	0	1	3	3	0	5	3	rs35790657		TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr20:51872176T>C	uc002xwo.3	+	1	3066	c.2179T>C	c.(2179-2181)Tcc>Ccc	p.S727P	TSHZ2_uc021wex.1_Missense_Mutation_p.S724P	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	727					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAGCACAATTTCCATGTTCCA	0.562													35	36					0	0	1	0	0	C	51872176	T	C	51872176	3	2	276	1	0	0	0	0	1	0	0	0	16621	1783	62	3	2185	3	TSHZ2	20	51872176	Missense_Mutation	SNP	T	TCGA-P5-A5EU-01A-11D-A27K-08		51872176	11153344	30	11936											
GGT5	2687	broad.mit.edu	37	chr22	24628809	24628809	+	Frame_Shift_Del	DEL	A	A	-																															accgcagggttgacgcctgcAaggaaggccgcaggatgctg																										TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr22:24628809delA	uc002zzp.4	-	3	995	c.578delT	c.(577-579)ttgfs	p.L193fs	GGT5_uc002zzo.4_Frame_Shift_Del_p.L193fs|GGT5_uc002zzr.4_Frame_Shift_Del_p.L161fs|GGT5_uc002zzq.4_Frame_Shift_Del_p.L161fs|GGT5_uc011ajm.2_Frame_Shift_Del_p.L117fs|GGT5_uc011ajn.1_Intron	NM_001099781	NP_001093251	P36269	GGT5_HUMAN	Homo sapiens gamma-glutamyltransferase 5 (GGT5), transcript variant 1, mRNA.	193					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						TGACGCCTGCAAGGAAGGCCG	0.662													2	4	---	---	---	---						-	24628809	A	-	24628809	7	5	276	1	0	1	0	1	0	0	0	0	6362	131	5	0	1221	0	GGT5	22	24628809	Frame_Shift_Del	DEL	A	TCGA-P5-A5EU-01A-11D-A27K-08		24628809	26675757	31	11937											
LGALS2	3957	broad.mit.edu	37	chr22	37966744	37966744	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagattaattacaaagcTgcaggagaaggggtagcagg	14	6	14	7	0	0	2	0	0	0	2	0	3	0	2	1	4	4	4	1	4	5	3			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr22:37966744T>C	uc003ata.3	-	3	202	c.90_splice	c.e3-1	p.G30_splice		NM_006498	NP_006489	P05162	LEG2_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 2 (LGALS2), mRNA.	30	Galectin.									breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					ATTACAAAGCTGCAGGAGAAG	0.527													45	59					0	0	1	0	0	C	37966744	T	C	37966744	5	2	276	1	0	0	0	0	0	0	1	0	8742	1594	55	4	318	4	LGALS2	22	37966744	Splice_Site	SNP	T	TCGA-P5-A5EU-01A-11D-A27K-08	13337935	37966744	13337822	32	11938											
ATRX	546	broad.mit.edu	37	chrX	76919034	76919035	+	Frame_Shift_Del	DEL	TT	TT	-																															gaatctgattcagaattgacTtgattttttgcttctaaatg																										TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chrX:76919034_76919035delTT	uc004ecp.4	-	11	4188_4189	c.3956_3957delAA	c.(3955-3957)caafs	p.Q1319fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.Q1281fs|ATRX_uc004eco.4_Frame_Shift_Del_p.Q1104fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.Q1251fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1319					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CAGAATTGACTTGATTTTTTGC	0.361			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						9	2	---	---	---	---						-	76919035	TT	-	76919034	7	5	276	1	0	1	0	1	0	0	0	0	1208	1606	56	0	3617	0	ATRX	23	76919034	Frame_Shift_Del	DEL	TT	TCGA-P5-A5EU-01A-11D-A27K-08		76919034	78351526	33	11939											
NADK	65220	broad.mit.edu	37	chr1	1686109	1686109	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcaccaccctgaccttcagCcgactccggagaacaacagc	11	6	7	17	2	2	2	2	1	0	1	3	4	3	2	5	1	4	0	5	1	2	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:1686109C>T	uc001aic.3	-	7	939	c.717G>A	c.(715-717)cgG>cgA	p.R239R	NADK_uc001aid.4_Silent_p.R239R|NADK_uc001aie.3_Silent_p.R384R|NADK_uc010nyv.2_Silent_p.R207R|NADK_uc009vkx.1_Silent_p.R117R	NM_023018	NP_075394	O95544	NADK_HUMAN	Homo sapiens NAD kinase (NADK), transcript variant 1, mRNA.	239					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ kinase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		TGACCTTCAGCCGACTCCGGA	0.647													5	229					0	0	1	0	0	T	1686109	C	T	1686109	2	4	277	1	0	0	0	0	0	0	0	1	10137	726	26	3		3	NADK	1	1686109	Silent	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		1686109	247564512	1	11940											
MTF1	4520	broad.mit.edu	37	chr1	38281148	38281148	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggatgcccgctcctttgcaGagtcccggcatgcacactga	7	9	11	14	2	0	2	0	1	0	1	2	3	2	3	3	2	3	4	3	2	0	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:38281148G>C	uc001cce.1	-	10	2063	c.1922C>G	c.(1921-1923)tCt>tGt	p.S641C		NM_005955	NP_005946	Q14872	MTF1_HUMAN	Homo sapiens metal-regulatory transcription factor 1 (MTF1), mRNA.	641						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTCCTTTGCAGAGTCCCGGCA	0.612													5	66					0	0	1	0	0	C	38281148	G	C	38281148	3	2	277	1	0	0	0	0	1	0	0	0	9922	942	33	5	343	5	MTF1	1	38281148	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	36595039	38281148	210969473	2	11941											
MACF1	23499	broad.mit.edu	37	chr1	39835815	39835815	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tattccacctacggaaacttCtatgagtgctaaagagttag	13	12	8	8	1	1	2	0	1	1	1	2	3	2	3	2	1	3	2	2	1	7	7			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:39835815C>G	uc021olw.1	+	14	8372	c.8372C>G	c.(8371-8373)tCt>tGt	p.S2791C	MACF1_uc021ols.1_Missense_Mutation_p.S2289C|MACF1_uc001cdc.2_Missense_Mutation_p.S2289C|MACF1_uc021olt.1_Missense_Mutation_p.S2289C|MACF1_uc001cda.1_Missense_Mutation_p.S2197C|MACF1_uc001cdb.1_Missense_Mutation_p.S1376C	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	4356					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACGGAAACTTCTATGAGTGCT	0.438													14	30					0	0	1	0	0	G	39835815	C	G	39835815	3	3	277	1	0	0	0	0	1	0	0	0	9144	913	32	5	13199	5	MACF1	1	39835815	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	1554667	39835815	209414806	3	11942											
MACF1	23499	broad.mit.edu	37	chr1	39852993	39852993	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcccaatttctgcaaaattgGagcggctacagtctcagcta	11	10	9	11	1	2	0	1	0	2	0	3	1	2	1	1	2	4	3	1	2	5	4			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:39852993G>C	uc021olw.1	+	21	9799	c.9799G>C	c.(9799-9801)Gag>Cag	p.E3267Q	MACF1_uc021ols.1_Missense_Mutation_p.E2765Q|MACF1_uc001cdc.2_Missense_Mutation_p.E2744Q|MACF1_uc021olt.1_Missense_Mutation_p.E2765Q|MACF1_uc001cda.1_Missense_Mutation_p.E2652Q	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	4832					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGCAAAATTGGAGCGGCTACA	0.453													88	175					0	0	1	0	0	C	39852993	G	C	39852993	3	2	277	1	0	0	0	0	1	0	0	0	9144	1175	41	5	14654	5	MACF1	1	39852993	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	17178	39852993	209397628	4	11943											
LRRC7	57554	broad.mit.edu	37	chr1	70144065	70144065	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgattctctcttataggAtggagaacctaataagggga	12	13	10	6	0	3	2	0	1	3	1	4	5	3	4	1	4	1	0	1	4	5	6			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:70144065A>G	uc001deo.1	+	2	1458	c.3_splice	c.e2-1	p.M1_splice				Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	0						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTCTTATAGGATGGAGAACCT	0.393													7	3					0	0	1	0	0	G	70144065	A	G	70144065	5	3	277	1	0	0	0	0	0	0	1	0	9020	348	12	3		3	LRRC7	1	70144065	Splice_Site	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	30291072	70144065	179106556	5	11944											
CD58	965	broad.mit.edu	37	chr1	117113546	117113546	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagcagtgcagcaggcagaCcacgctgaggacccccaggg	12	2	14	13	1	0	2	0	1	0	1	0	3	0	3	3	3	3	5	3	3	1	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:117113546C>G	uc001egm.3	-	0	170	c.49G>C	c.(49-51)Gtc>Ctc	p.V17L	CD58_uc001egn.3_Non-coding_Transcript|CD58_uc010owy.2_Missense_Mutation_p.V17L|CD58_uc001egp.4_Missense_Mutation_p.V17L	NM_001779	NP_001770	P19256	LFA3_HUMAN	Homo sapiens CD58 molecule (CD58), transcript variant 1, mRNA.	17					blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		AGCAGGCAGACCACGCTGAGG	0.741													3	5					0	0	1	0	0	G	117113546	C	G	117113546	3	3	277	1	0	0	0	0	1	0	0	0	3025	507	18	5	731	5	CD58	1	117113546	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	46969481	117113546	132137075	6	11945											
ZNF697	90874	broad.mit.edu	37	chr1	120166640	120166640	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctccgggatatgctgtcaGactcagacagtcctgggaac	9	8	13	11	1	2	2	2	0	0	2	4	4	4	4	2	3	2	2	2	3	2	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:120166640G>C	uc001ehy.1	-	2	440	c.326C>G	c.(325-327)tCt>tGt	p.S109C		NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN	Homo sapiens zinc finger protein 697 (ZNF697), mRNA.	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		TATGCTGTCAGACTCAGACAG	0.622													13	30					0	0	1	0	0	C	120166640	G	C	120166640	3	2	277	1	0	0	0	0	1	0	0	0	18097	942	33	5	1315	5	ZNF697	1	120166640	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	3053094	120166640	129083981	7	11946											
OAZ3	51686	broad.mit.edu	37	chr1	151742722	151742722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaacttccagaatgatcGgaacgacagaggtggggatc	12	8	14	7	2	0	4	0	2	0	2	3	7	1	6	1	4	2	0	1	4	3	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:151742722G>A	uc010pdm.2	+	4	621	c.551G>A	c.(550-552)cGg>cAg	p.R184Q	OAZ3_uc010pdl.2_Missense_Mutation_p.R140Q|TDRKH_uc001eyy.2_3'UTR	NM_016178	NP_057262	Q9UMX2	OAZ3_HUMAN	Homo sapiens ornithine decarboxylase antizyme 3 (OAZ3), transcript variant 1, mRNA.	137					cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis	cytosol|nucleus	ornithine decarboxylase inhibitor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		L-Ornithine(DB00129)	CAGAATGATCGGAACGACAGA	0.473													11	311					0	0	1	0	0	A	151742722	G	A	151742722	3	1	277	1	0	0	0	0	1	0	0	0	10806	1116	39	2	605	2	OAZ3	1	151742722	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	31576082	151742722	97507899	8	11947											
POU2F1	5451	broad.mit.edu	37	chr1	167384943	167384943	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcacctgtagccagccttCacgccacctccacctctgct	6	9	6	20	1	2	0	1	0	1	0	3	0	3	0	7	0	4	3	7	0	1	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:167384943C>G	uc001gec.3	+	16	2367	c.2128C>G	c.(2128-2130)Cac>Gac	p.H710D	POU2F1_uc001gee.3_Missense_Mutation_p.H733D|POU2F1_uc010plh.2_Missense_Mutation_p.H670D|POU2F1_uc001ged.3_Missense_Mutation_p.H708D|POU2F1_uc001gef.3_Missense_Mutation_p.H722D|POU2F1_uc001geg.3_Intron	NM_001198783	NP_001185712	P14859	PO2F1_HUMAN	Homo sapiens POU class 2 homeobox 1 (POU2F1), transcript variant 2, mRNA.	710					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						AGCCAGCCTTCACGCCACCTC	0.617													13	363					0	0	1	0	0	G	167384943	C	G	167384943	3	3	277	1	0	0	0	0	1	0	0	0	12271	826	29	5	2186	5	POU2F1	1	167384943	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	15642221	167384943	81865678	9	11948											
FMN2	56776	broad.mit.edu	37	chr1	240370340	240370340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taggattttagaggcgaaatCgatacagacttcccccacgg	12	9	10	10	3	0	2	0	0	0	2	2	5	1	3	2	3	1	0	2	3	4	5			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:240370340C>T	uc010pye.2	+	5	2465	c.2240C>T	c.(2239-2241)tCg>tTg	p.S747L	FMN2_uc010pyd.2_Missense_Mutation_p.S743L	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	743					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAGGCGAAATCGATACAGACT	0.572													13	30					0	0	1	0	0	T	240370340	C	T	240370340	3	4	277	1	0	0	0	0	1	0	0	0	5950	893	31	2	2246	2	FMN2	1	240370340	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	72985397	240370340	8880281	10	11949											
PXDN	7837	broad.mit.edu	37	chr2	1652144	1652144	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccgctccgtgagctccgtGttcagcagctgcgagggcac	6	7	14	14	4	1	1	1	1	0	0	3	2	3	1	3	1	5	6	3	1	0	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:1652144G>C	uc002qxa.3	-	16	3472	c.3408C>G	c.(3406-3408)aaC>aaG	p.N1136K		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	1136					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGAGCTCCGTGTTCAGCAGCT	0.652													21	71					0	0	1	0	0	C	1652144	G	C	1652144	3	2	277	1	0	0	0	0	1	0	0	0	12847	1368	48	5	1059	5	PXDN	2	1652144	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08		1652144	241547229	11	11950											
MYCN	4613	broad.mit.edu	37	chr2	16086010	16086010	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tggagcgccagcgccgcaacGaccttcggtccagctttctc	6	8	11	16	5	1	0	0	0	1	0	4	2	2	1	4	2	4	2	4	2	1	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:16086010G>C	uc002rci.3	+	2	1486	c.1186G>C	c.(1186-1188)Gac>Cac	p.D396H	MYCN_uc010yjr.2_Missense_Mutation_p.D396H	NM_005378	NP_005369	P04198	MYCN_HUMAN	Homo sapiens v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) (MYCN), mRNA.	396	Helix-loop-helix motif.				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GCGCCGCAACGACCTTCGGTC	0.572			A		neuroblastoma								5	225					0	0	1	0	0	C	16086010	G	C	16086010	3	2	277	1	0	0	0	0	1	0	0	0	10021	1058	37	5	1192	5	MYCN	2	16086010	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	14433866	16086010	227113363	12	11951											
UCN	7349	broad.mit.edu	37	chr2	27530422	27530422	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagtcgaatatgatgcggttCtgctcggcgcgctcccgctg	5	10	14	12	6	1	1	0	1	1	0	4	3	2	1	1	2	2	4	1	2	2	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:27530422C>G	uc021vfc.1	-	0	342	c.342G>C	c.(340-342)caG>caC	p.Q114H	UCN_uc002rjp.1_Missense_Mutation_p.Q114H	NM_003353	NP_003344	P55089	UCN1_HUMAN	Homo sapiens urocortin (UCN), mRNA.	114						extracellular region	neuropeptide hormone activity			lung(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATGCGGTTCTGCTCGGCGC	0.647													38	46					0	0	1	0	0	G	27530422	C	G	27530422	3	3	277	1	0	0	0	0	1	0	0	0	16924	912	32	5	36	5	UCN	2	27530422	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	11444412	27530422	215668951	13	11952											
PSME4	23198	broad.mit.edu	37	chr2	54128608	54128608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagccctgaagaaacaatcGctggccacgtctgtacaata	14	8	8	11	2	1	2	0	1	1	1	2	2	1	2	2	1	3	2	2	1	7	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:54128608G>A	uc002rxp.2	-	27	3220	c.3164C>T	c.(3163-3165)gCg>gTg	p.A1055V	PSME4_uc010yop.1_Missense_Mutation_p.A941V|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_Missense_Mutation_p.A430V|PSME4_uc010fbv.1_Missense_Mutation_p.A199V|PSME4_uc021vho.1_Missense_Mutation_p.A1040V	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	1055					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	p.G1055W(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGAAACAATCGCTGGCCACGT	0.443													8	114					0	0	1	0	0	A	54128608	G	A	54128608	3	1	277	1	0	0	0	0	1	0	0	0	12709	1087	38	1	2443	1	PSME4	2	54128608	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	26598186	54128608	189070765	14	11953											
ALMS1	7840	broad.mit.edu	37	chr2	73613031	73613032	+	In_Frame_Ins	INS	-	-	GGA																															ctgccatggccgggcgagctINSggaggaggaggaggaggagg																								rs55889738		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:73613031_73613032insGGA	uc002sje.1	+	0	146_147	c.35_36insGGA	c.(34-36)ctg>ctGGAg	p.28_29insE	ALMS1_uc002sjf.1_In_Frame_Ins_p.28_29insE	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	28	Glu-rich.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.E27_E28delEE(2)|p.E28_A29insE(2)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCGGGCGAGCTggaggaggagg	0.698													3	3	---	---	---	---						GGA	73613032	-	GGA	73613031	7	5	277	1	0	1	1	0	0	0	0	0	535	1580	55	0	37	0	ALMS1	2	73613031	In_Frame_Ins	INS	-	TCGA-P5-A5EV-01A-11D-A27K-08	19484423	73613031	169586342	15	11954											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								23	33					0	0	1	0	0	T	209113112	C	T	209113112	3	4	277	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	135500081	209113112	34086261	16	11955											
USP40	55230	broad.mit.edu	37	chr2	234434186	234434186	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaacactaagaaccatgTctccttcccaaaattctaac	14	11	3	13	0	2	1	0	0	2	1	4	1	3	1	3	0	4	1	3	0	6	5			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:234434186T>C	uc010zmr.2	-	12	1781	c.1781A>G	c.(1780-1782)gAc>gGc	p.D594G	USP40_uc010zmt.1_Missense_Mutation_p.D238G	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	Homo sapiens ubiquitin specific peptidase 40 (USP40), mRNA.	582					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		AAGAACCATGTCTCCTTCCCA	0.373													26	64					0	0	1	0	0	C	234434186	T	C	234434186	3	2	277	1	0	0	0	0	1	0	0	0	17069	1667	58	3	2038	3	USP40	2	234434186	Missense_Mutation	SNP	T	TCGA-P5-A5EV-01A-11D-A27K-08	25321074	234434186	8765187	17	11956											
LRRC2	79442	broad.mit.edu	37	chr3	46574300	46574300	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaattctagatttccagaaCaatccagtctctctagattt	12	16	4	9	0	3	3	0	0	3	3	6	3	5	3	2	0	1	0	2	0	5	6			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:46574300C>A	uc010hji.3	-	4	983	c.590G>T	c.(589-591)tGt>tTt	p.C197F	LRRC2_uc003cpu.4_Missense_Mutation_p.C197F	NM_024512	NP_078788	Q9BYS8	LRRC2_HUMAN	Homo sapiens leucine rich repeat containing 2 (LRRC2), mRNA.	197										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		ATTTCCAGAACAATCCAGTCT	0.368													5	94					3.59834e-05	3.64507e-05	1	1	0	A	46574300	C	A	46574300	3	1	277	1	0	0	0	0	1	0	0	0	8976	478	17	5	545	5	LRRC2	3	46574300	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		46574300	151448130	18	11957											
COL7A1	1294	broad.mit.edu	37	chr3	48628163	48628163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggacccactcgagcagacaCccgcacagtgtagctaagcc	11	4	11	15	2	0	1	0	0	0	1	1	3	0	2	3	1	3	4	3	1	2	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:48628163C>T	uc003ctz.2	-	12	1724	c.1723G>A	c.(1723-1725)Gtg>Atg	p.V575M		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	575	Fibronectin type-III 4.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGAGCAGACACCCGCACAGTG	0.612													28	99					0	0	1	0	0	T	48628163	C	T	48628163	3	4	277	1	0	0	0	0	1	0	0	0	3704	507	18	3	7535	3	COL7A1	3	48628163	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	2053863	48628163	149394267	19	11958											
POU1F1	5449	broad.mit.edu	37	chr3	87313619	87313619	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataggaggaaatccatgactCaaggtgtggtcaggaaattt	14	10	12	5	0	2	1	2	1	0	0	3	4	3	4	1	5	0	0	1	5	4	2	rs142837047		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:87313619C>G	uc010hoj.1	-	2	461	c.336G>C	c.(334-336)ttG>ttC	p.L112F	POU1F1_uc003dqq.1_Missense_Mutation_p.L86F	NM_001122757	NP_001116229	P28069	PIT1_HUMAN	Homo sapiens POU class 1 homeobox 1 (POU1F1), transcript variant beta, mRNA.	86					negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		ATCCATGACTCAAGGTGTGGT	0.413													29	54					0	0	1	0	0	G	87313619	C	G	87313619	3	3	277	1	0	0	0	0	1	0	0	0	12269	825	29	5	633	5	POU1F1	3	87313619	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	38685456	87313619	110708811	20	11959											
HGD	3081	broad.mit.edu	37	chr3	120347254	120347254	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttctgctgggttcctggaGttgggagtgaagtggctctt	4	14	17	6	0	2	1	0	1	2	0	3	3	3	3	1	5	1	5	1	5	1	4			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:120347254G>T	uc003edw.3	-	13	1771	c.1311C>A	c.(1309-1311)aaC>aaA	p.N437K	HGD_uc003edv.3_Missense_Mutation_p.N296K	NM_000187	NP_000178	Q93099	HGD_HUMAN	Homo sapiens homogentisate 1,2-dioxygenase (HGD), mRNA.	437					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		GGTTCCTGGAGTTGGGAGTGA	0.468													39	147					3.09479e-21	3.21858e-21	1	1	0	T	120347254	G	T	120347254	3	4	277	1	0	0	0	0	1	0	0	0	7084	1020	36	5	30	5	HGD	3	120347254	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	33033635	120347254	77675176	21	11960											
PRR23B	389151	broad.mit.edu	37	chr3	138739058	138739058	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtaggcctcttcctgggcgGcgatctctgggacagatgcg	5	9	15	12	4	2	1	0	0	2	1	4	3	3	2	2	4	1	1	2	4	1	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:138739058G>C	uc003esy.1	-	0	711	c.446C>G	c.(445-447)gCc>gGc	p.A149G		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	149										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTCCTGGGCGGCGATCTCTGG	0.662													6	93					0	0	1	0	0	C	138739058	G	C	138739058	3	2	277	1	0	0	0	0	1	0	0	0	12595	1203	42	5	355	5	PRR23B	3	138739058	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	18391804	138739058	59283372	22	11961											
PCDH7	5099	broad.mit.edu	37	chr4	30723437	30723437	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacctgtttgagggtcaggtCatcgtgcttgacatcaacga	9	11	12	9	2	3	2	3	2	0	0	4	4	3	2	1	2	2	2	1	2	1	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr4:30723437C>G	uc003gsk.1	+	0	1401	c.393C>G	c.(391-393)gtC>gtG	p.V131V	PCDH7_uc011bxx.2_Silent_p.V131V|PCDH7_uc021xnd.1_Silent_p.V131V|PCDH7_uc021xnc.1_Silent_p.V131V	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	131	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AGGGTCAGGTCATCGTGCTTG	0.602													9	13					0	0	1	0	0	G	30723437	C	G	30723437	2	3	277	1	0	0	0	0	0	0	0	1	11516	813	29	5		5	PCDH7	4	30723437	Silent	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		30723437	160430839	23	11962											
TBC1D1	23216	broad.mit.edu	37	chr4	38091702	38091702	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctattcttcaacagatactgCtgcttagaatggagaaggaa	14	11	9	7	0	2	3	1	0	1	3	2	5	2	4	0	2	4	2	0	2	7	5			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr4:38091702C>T	uc003gtb.3	+	12	2558	c.2200C>T	c.(2200-2202)Ctg>Ttg	p.L734L	TBC1D1_uc011byd.2_Silent_p.L828L|TBC1D1_uc010ifd.3_Silent_p.L521L|TBC1D1_uc011byf.1_Silent_p.L605L	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	734						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						ACAGATACTGCTGCTTAGAAT	0.468													6	130					0	0	1	0	0	T	38091702	C	T	38091702	2	4	277	1	0	0	0	0	0	0	0	1	15594	796	28	3		3	TBC1D1	4	38091702	Silent	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	7368265	38091702	153062574	24	11963											
SLC12A7	10723	broad.mit.edu	37	chr5	1079603	1079603	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccggaccggtttgaacccgCcatgatacctgtgaacatgg	9	8	11	13	3	0	3	0	3	0	0	0	4	0	4	5	3	3	1	5	3	3	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:1079603C>G	uc003jbu.3	-	9	1372	c.1306G>C	c.(1306-1308)Gcg>Ccg	p.A436P		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	436					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	p.A436A(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	TTTGAACCCGCCATGATACCT	0.557													3	63					0	0	1	0	0	G	1079603	C	G	1079603	3	3	277	1	0	0	0	0	1	0	0	0	14388	739	26	5	2005	5	SLC12A7	5	1079603	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		1079603	179835657	25	11964											
LMBRD2	92255	broad.mit.edu	37	chr5	36122537	36122537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgccattgtacttgagttCgacggtgtctctgaactgaa	8	14	10	9	2	2	3	0	3	2	0	4	4	2	3	1	1	3	2	1	1	3	4			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:36122537C>T	uc003jkb.1	-	8	1380	c.965G>A	c.(964-966)cGa>cAa	p.R322Q		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Homo sapiens LMBR1 domain containing 2 (LMBRD2), mRNA.	322						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TACTTGAGTTCGACGGTGTCT	0.408													21	37					0	0	1	0	0	T	36122537	C	T	36122537	3	4	277	1	0	0	0	0	1	0	0	0	8843	884	31	2	1162	2	LMBRD2	5	36122537	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	35042934	36122537	144792723	26	11965											
PCDHAC2	56134	broad.mit.edu	37	chr5	140209248	140209248	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tacgcgctgcagccgctggaCcacgaggagctagagctgct	8	6	14	13	4	0	1	0	0	0	1	0	4	0	3	2	2	6	6	2	2	2	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:140209248C>G	uc003lho.2	+	0	1599	c.1572C>G	c.(1570-1572)gaC>gaG	p.D524E	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Missense_Mutation_p.D524E|PCDHAC2_uc011dab.2_Missense_Mutation_p.D524E	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	538	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCGCTGGACCACGAGGAGC	0.687													87	213					0	0	1	0	0	G	140209248	C	G	140209248	3	3	277	1	0	0	0	0	1	0	0	0	11533	506	18	5		5	PCDHAC2	5	140209248	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	104086711	140209248	40706012	27	11966											
PCDHAC2	56134	broad.mit.edu	37	chr5	140237506	140237506	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcccgtttcgcgtggggCtgtacacgggcgagatcagt	6	9	15	11	5	1	1	1	0	0	1	3	2	2	1	1	3	1	4	1	3	1	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:140237506C>G	uc003lhx.2	+	0	1873	c.1873C>G	c.(1873-1875)Ctg>Gtg	p.L625V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc011dad.2_Missense_Mutation_p.L625V	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	637	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCGTGGGGCTGTACACGGG	0.632													13	49					0	0	1	0	0	G	140237506	C	G	140237506	3	3	277	1	0	0	0	0	1	0	0	0	11533	796	28	5		5	PCDHAC2	5	140237506	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	28258	140237506	40677754	28	11967											
FAM71B	153745	broad.mit.edu	37	chr5	156593086	156593086	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtactctcctctgttgtacaAttgtcgttgcaggtccccca	6	14	8	13	1	2	0	0	0	2	0	5	0	3	0	3	1	3	5	3	1	3	5			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:156593086A>G	uc003lwn.3	-	0	194	c.94T>C	c.(94-96)Ttg>Ctg	p.L32L		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	32						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGTTGTACAATTGTCGTTGC	0.403													4	123					0	0	1	0	0	G	156593086	A	G	156593086	2	3	277	1	0	0	0	0	0	0	0	1	5608	98	4	3		3	FAM71B	5	156593086	Silent	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	16355580	156593086	24322174	29	11968											
BTNL8	79908	broad.mit.edu	37	chr5	180374587	180374587	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgctgtggcctattttttgGcattgttggactgaagattt	6	18	11	6	0	0	2	0	1	0	1	0	3	0	3	1	3	1	3	1	3	2	7			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:180374587G>C	uc003mmp.3	+	3	983	c.749G>C	c.(748-750)gGc>gCc	p.G250A	BTNL8_uc003mmq.3_Missense_Mutation_p.G250A|BTNL8_uc010jll.3_Missense_Mutation_p.G250A|BTNL8_uc011dhg.2_Missense_Mutation_p.G125A|BTNL8_uc010jlm.3_Missense_Mutation_p.G134A|BTNL8_uc011dhh.2_Missense_Mutation_p.G66A	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	250						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTATTTTTTGGCATTGTTGGA	0.458													108	168					0	0	1	0	0	C	180374587	G	C	180374587	3	2	277	1	0	0	0	0	1	0	0	0	1567	1203	42	5	789	5	BTNL8	5	180374587	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	23781501	180374587	540673	30	11969											
NUP153	9972	broad.mit.edu	37	chr6	17629745	17629745	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgaggaggctgctgagttCgaagatgaggaagatgtgtc	11	9	17	4	1	0	5	0	3	0	2	2	9	0	7	0	3	1	3	0	3	2	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:17629745C>T	uc003ncd.1	-	17	2885	c.2685G>A	c.(2683-2685)tcG>tcA	p.S895S	NUP153_uc011dje.1_Silent_p.S926S|NUP153_uc010jpl.1_Silent_p.S853S	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	895					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CTGCTGAGTTCGAAGATGAGG	0.388													32	40					0	0	1	0	0	T	17629745	C	T	17629745	2	4	277	1	0	0	0	0	0	0	0	1	10755	871	31	2		2	NUP153	6	17629745	Silent	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		17629745	153485322	31	11970											
HIST1H3B	8358	broad.mit.edu	37	chr6	26032175	26032175	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgggcggtaacggtgaggCtttttcacgccgccggtagc	5	8	15	13	6	1	1	1	1	0	0	1	1	1	1	3	5	2	3	3	5	2	4			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:26032175C>G	uc003nfs.1	-	0	114	c.114G>C	c.(112-114)aaG>aaC	p.K38N		NM_003537	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3b (HIST1H3B), mRNA.	38					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						AACGGTGAGGCTTTTTCACGC	0.642													7	240					0	0	1	0	0	G	26032175	C	G	26032175	3	3	277	1	0	0	0	0	1	0	0	0	7156	796	28	5	300	5	HIST1H3B	6	26032175	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	8402430	26032175	145082892	32	11971											
RUNX2	860	broad.mit.edu	37	chr6	45390354	45390355	+	Frame_Shift_Ins	INS	-	-	C																															agcaccagccggcgcttcagINSccccccctccagcagcctgc																										TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:45390354_45390355insC	uc011dvx.2	+	2	293_294	c.83_84insC	c.(82-84)agcfs	p.S28fs	RUNX2_uc011dvy.2_Frame_Shift_Ins_p.S28fs|RUNX2_uc003oxt.3_Frame_Shift_Ins_p.S14fs	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	28					negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CGGCGCTTCAGCCCCCCCTCCA	0.649													39	181	---	---	---	---						C	45390355	-	C	45390354	7	5	277	1	0	1	1	0	0	0	0	0	13748	971	34	0	105	0	RUNX2	6	45390354	Frame_Shift_Ins	INS	-	TCGA-P5-A5EV-01A-11D-A27K-08	19358179	45390354	125724713	33	11972											
GPR116	221395	broad.mit.edu	37	chr6	46830772	46830772	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgagaaccggcatagcttCtggatgactttccccggctc	7	12	10	12	2	1	2	0	2	1	1	3	4	2	3	3	3	2	3	3	3	2	4			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:46830772C>G	uc003oyo.3	-	14	2341	c.2052G>C	c.(2050-2052)caG>caC	p.Q684H	GPR116_uc011dwj.1_Missense_Mutation_p.Q239H|GPR116_uc011dwk.1_Missense_Mutation_p.Q113H|GPR116_uc003oyp.3_Missense_Mutation_p.Q542H|GPR116_uc003oyq.3_Missense_Mutation_p.Q684H|GPR116_uc010jzi.1_Missense_Mutation_p.Q356H	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	684					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GGCATAGCTTCTGGATGACTT	0.507													35	60					0	0	1	0	0	G	46830772	C	G	46830772	3	3	277	1	0	0	0	0	1	0	0	0	6633	912	32	5	2016	5	GPR116	6	46830772	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	1440418	46830772	124284295	34	11973											
CTGF	1490	broad.mit.edu	37	chr6	132271980	132271980	+	Frame_Shift_Del	DEL	T	T	-																															aggcccttgtgcgggtcgcaTgggtcgcgctcggtgcacag																								rs6934749	by1000genomes	TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:132271980delT	uc003qcz.3	-	1	425	c.219delA	c.(217-219)ccafs	p.P73fs		NM_001901	NP_001892	P29279	CTGF_HUMAN	Homo sapiens connective tissue growth factor (CTGF), mRNA.	73	IGFBP N-terminal.				DNA replication|cellular lipid metabolic process|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		GCGGGTCGCATGGGTCGCGCT	0.716													2	4	---	---	---	---						-	132271980	T	-	132271980	7	5	277	1	0	1	0	1	0	0	0	0	4008	1451	51	0	846	0	CTGF	6	132271980	Frame_Shift_Del	DEL	T	TCGA-P5-A5EV-01A-11D-A27K-08	85441208	132271980	38843087	35	11974											
UTRN	7402	broad.mit.edu	37	chr6	145149966	145149966	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctaatgggtcttttctcactGatagcagctccaccacagga	10	11	8	12	0	2	1	1	1	2	0	4	2	3	2	2	2	2	2	2	2	2	4			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:145149966G>C	uc003qkt.3	+	67	9732	c.9640G>C	c.(9640-9642)Gat>Cat	p.D3214H		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	3214					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTTTCTCACTGATAGCAGCTC	0.423													5	28					0	0	1	0	0	C	145149966	G	C	145149966	3	2	277	1	0	0	0	0	1	0	0	0	17100	1290	45	5	9910	5	UTRN	6	145149966	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	12877986	145149966	25965101	36	11975			1	29		2	2	27	G		9.658181e-05
UTRN	7402	broad.mit.edu	37	chr6	145149992	145149992	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctccaccacaggaagtgtGtaagtaaatcatgaaattag	16	9	9	7	0	1	1	1	1	0	0	2	2	2	2	2	1	1	3	2	1	6	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:145149992G>C	uc003qkt.3	+	68	9757	c.9665_splice	c.e68+1	p.V3222_splice		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	3222					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CAGGAAGTGTGTAAGTAAATC	0.423													3	25					0	0	1	0	0	C	145149992	G	C	145149992	5	2	277	1	0	0	0	0	0	0	1	0	17100	1391	48	5	9936	5	UTRN	6	145149992	Splice_Site	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	26	145149992	25965075	37	11976			1	29		2	2	27	G		9.658181e-05
FOXK1	221937	broad.mit.edu	37	chr7	4796718	4796718	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggggtccttttggcgaataGaccctgcctctgaagccaag	9	9	12	11	1	1	2	0	1	1	1	2	3	2	2	4	3	2	0	4	3	4	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:4796718G>C	uc003snc.1	+	4	1154	c.1144G>C	c.(1144-1146)Gac>Cac	p.D382H	FOXK1_uc003sna.1_Missense_Mutation_p.D219H	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	Homo sapiens forkhead box K1 (FOXK1), mRNA.	382					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		TTGGCGAATAGACCCTGCCTC	0.572													5	198					0	0	1	0	0	C	4796718	G	C	4796718	3	2	277	1	0	0	0	0	1	0	0	0	6014	942	33	5	1162	5	FOXK1	7	4796718	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08		4796718	154341945	38	11977											
ADCY1	107	broad.mit.edu	37	chr7	45699747	45699747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttgaaaactcataacatcGaaaccttttttattgtgcca	13	15	4	9	1	2	1	1	1	1	0	3	2	2	1	2	0	4	0	2	0	5	6			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:45699747G>A	uc003tne.4	+	6	1432	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	ADCY1_uc003tnd.3_Missense_Mutation_p.E247K	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	472					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TCATAACATCGAAACCTTTTT	0.483													17	48					0	0	1	0	0	A	45699747	G	A	45699747	3	1	277	1	0	0	0	0	1	0	0	0	292	1059	37	2	1440	2	ADCY1	7	45699747	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	40903029	45699747	113438916	39	11978											
ADAM22	53616	broad.mit.edu	37	chr7	87792427	87792427	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcttagaacacaggtgtcttCctgtggcttctttcaacttt	7	16	8	10	0	3	1	1	0	2	1	4	1	4	1	1	2	2	2	1	2	3	5			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:87792427C>G	uc003ujn.3	+	22	2223	c.2008C>G	c.(2008-2010)Cct>Gct	p.P670A	ADAM22_uc003ujk.2_Missense_Mutation_p.P670A|ADAM22_uc003ujl.2_Missense_Mutation_p.P670A|ADAM22_uc003ujm.3_Missense_Mutation_p.P670A|ADAM22_uc003ujo.3_Missense_Mutation_p.P670A|ADAM22_uc003ujp.1_Missense_Mutation_p.P722A	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	670	Cys-rich.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CAGGTGTCTTCCTGTGGCTTC	0.428													35	96					0	0	1	0	0	G	87792427	C	G	87792427	3	3	277	1	0	0	0	0	1	0	0	0	244	855	30	5	2098	5	ADAM22	7	87792427	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	42092680	87792427	71346236	40	11979											
COL1A2	1278	broad.mit.edu	37	chr7	94038891	94038891	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catagggtaatcctggagcaAacggccttactggtgccaag	11	8	12	10	1	0	0	0	0	0	0	1	1	1	1	3	4	4	2	3	4	5	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:94038891A>T	uc003ung.1	+	17	1378	c.907A>T	c.(907-909)Aac>Tac	p.N303Y	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	303					Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.A302S(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCCTGGAGCAAACGGCCTTAC	0.433										HNSCC(75;0.22)			4	118					0	0	1	0	0	T	94038891	A	T	94038891	3	4	277	1	0	0	0	0	1	0	0	0	3678	14	1	5	977	5	COL1A2	7	94038891	Missense_Mutation	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	6246464	94038891	65099772	41	11980											
CYP3A4	1576	broad.mit.edu	37	chr7	99359851	99359851	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcattcaccaccatgtcaaGatactccatctgtagcacag	12	11	5	13	0	4	1	3	0	1	1	5	1	5	1	3	0	2	2	3	0	3	4			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:99359851G>C	uc003urv.2	-	10	1173	c.1066C>G	c.(1066-1068)Ctt>Gtt	p.L356V	CYP3A4_uc003urw.2_Missense_Mutation_p.L355V|CYP3A4_uc011kiz.2_Missense_Mutation_p.L315V	NM_017460	NP_059488	P08684	CP3A4_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	356					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	ACCATGTCAAGATACTCCATC	0.398													5	86					0	0	1	0	0	C	99359851	G	C	99359851	3	2	277	1	0	0	0	0	1	0	0	0	4178	942	33	5	457	5	CYP3A4	7	99359851	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	5320960	99359851	59778812	42	11981											
GIGYF1	64599	broad.mit.edu	37	chr7	100281867	100281867	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggccccccatacctgctgaCcagctggagaaactgctggt	9	7	11	14	0	0	2	0	1	0	1	0	3	0	2	5	3	5	3	5	3	2	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:100281867C>G	uc003uwg.1	-	13	2732	c.1723G>C	c.(1723-1725)Gtc>Ctc	p.V575L		NM_022574	NP_072096	O75420	PERQ1_HUMAN	Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA.	575	Gln-rich.									central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TACCTGCTGACCAGCTGGAGA	0.657													25	18					0	0	1	0	0	G	100281867	C	G	100281867	3	3	277	1	0	0	0	0	1	0	0	0	6377	507	18	5	1428	5	GIGYF1	7	100281867	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	922016	100281867	58856796	43	11982											
SLC26A3	1811	broad.mit.edu	37	chr7	107423255	107423255	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttaccttttgtagaggcGccaggagaaatccaatggct	10	11	12	8	1	0	2	0	0	0	2	1	3	1	2	3	3	1	3	3	3	4	4			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:107423255G>T	uc003ver.2	-	10	1509	c.1298C>A	c.(1297-1299)gCg>gAg	p.A433E	SLC26A3_uc003ves.2_Missense_Mutation_p.A398E	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	433					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TTGTAGAGGCGCCAGGAGAAA	0.413													9	140					0.010729	0.0107983	1	1	0	T	107423255	G	T	107423255	3	4	277	1	0	0	0	0	1	0	0	0	14518	1087	38	5	1040	5	SLC26A3	7	107423255	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	7141388	107423255	51715408	44	11983											
EXOC4	60412	broad.mit.edu	37	chr7	133692502	133692502	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcatcagtgagtctggcatCaagaaaatgtgtaggaacat	14	9	11	7	1	3	2	2	1	1	1	3	3	3	3	0	2	1	3	0	2	5	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:133692502C>G	uc003vrk.3	+	16	2636	c.2601C>G	c.(2599-2601)atC>atG	p.I867M	EXOC4_uc011kpo.2_Missense_Mutation_p.I766M|EXOC4_uc003vrl.3_Missense_Mutation_p.I477M|EXOC4_uc011kpp.2_Missense_Mutation_p.I399M|EXOC4_uc011kpq.2_Missense_Mutation_p.I155M	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	Homo sapiens exocyst complex component 4 (EXOC4), transcript variant 1, mRNA.	867					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AGTCTGGCATCAAGAAAATGT	0.522													10	51					0	0	1	0	0	G	133692502	C	G	133692502	3	3	277	1	0	0	0	0	1	0	0	0	5306	816	29	5	2676	5	EXOC4	7	133692502	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	26269247	133692502	25446161	45	11984											
TAS2R4	50832	broad.mit.edu	37	chr7	141478741	141478741	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcctgtacatcacgcttagCcaggcatcaccttttcctga	8	12	7	14	1	2	1	2	1	0	0	3	1	3	1	4	1	3	3	4	1	2	4			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:141478741C>G	uc003vwq.1	+	0	453	c.453C>G	c.(451-453)agC>agG	p.S151R		NM_016944	NP_058640	Q9NYW5	TA2R4_HUMAN	Homo sapiens taste receptor, type 2, member 4 (TAS2R4), mRNA.	151					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		TCACGCTTAGCCAGGCATCAC	0.468													7	342					0	0	1	0	0	G	141478741	C	G	141478741	3	3	277	1	0	0	0	0	1	0	0	0	15574	738	26	5	455	5	TAS2R4	7	141478741	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	7786239	141478741	17659922	46	11985											
CDH17	1015	broad.mit.edu	37	chr8	95143113	95143113	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatatctacctggtaaagAaacaatgccttccaagggtg	15	9	9	8	0	1	2	0	0	1	2	2	2	2	2	3	2	3	1	3	2	8	4			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr8:95143113A>G	uc003ygh.2	-	15	2400	c.2275T>C	c.(2275-2277)Tct>Cct	p.S759P	CDH17_uc011lgo.1_Missense_Mutation_p.S545P|CDH17_uc011lgp.1_Missense_Mutation_p.S759P	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	759	Cadherin 7.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CCTGGTAAAGAAACAATGCCT	0.493													5	114					0	0	1	0	0	G	95143113	A	G	95143113	3	3	277	1	0	0	0	0	1	0	0	0	3102	246	9	3	235	3	CDH17	8	95143113	Missense_Mutation	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08		95143113	51220909	47	11986											
VPS13B	157680	broad.mit.edu	37	chr8	100829810	100829810	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatctgtagttacttgtctCaaagcatagaactaaaagtc	14	13	6	8	0	3	1	2	0	2	1	5	1	3	1	0	0	3	3	0	0	7	5			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr8:100829810C>G	uc003yiv.3	+	44	8326	c.8215C>G	c.(8215-8217)Caa>Gaa	p.Q2739E	VPS13B_uc003yiw.3_Missense_Mutation_p.Q2714E	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	2739					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTACTTGTCTCAAAGCATAGA	0.373													24	54					0	0	1	0	0	G	100829810	C	G	100829810	3	3	277	1	0	0	0	0	1	0	0	0	17187	827	29	5	8583	5	VPS13B	8	100829810	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	5686697	100829810	45534212	48	11987											
SCRIB	23513	broad.mit.edu	37	chr8	144895232	144895232	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagctggttccggtcaaGccacagctcccgaagattgg	9	8	12	12	2	1	2	1	1	0	1	3	3	3	2	3	3	3	3	3	3	2	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr8:144895232G>C	uc003yzp.1	-	6	617	c.610C>G	c.(610-612)Ctt>Gtt	p.L204V	SCRIB_uc003yzo.1_Missense_Mutation_p.L204V|MIR937_uc022bck.1_5'Flank	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	204	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TTCCGGTCAAGCCACAGCTCC	0.627													5	14					0	0	1	0	0	C	144895232	G	C	144895232	3	2	277	1	0	0	0	0	1	0	0	0	13937	971	34	5	4481	5	SCRIB	8	144895232	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	44065422	144895232	1468790	49	11988											
KIAA1161	57462	broad.mit.edu	37	chr9	34372002	34372002	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaccaaatggggtctcGgaaggcctcgggtgctggca	7	8	17	9	2	1	0	0	0	1	0	3	2	1	2	2	7	1	2	2	7	2	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr9:34372002G>A	uc003zue.4	-	2	1104	c.937C>T	c.(937-939)Cga>Tga	p.R313*		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	Homo sapiens KIAA1161 (KIAA1161), mRNA.	314					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		ATGGGGTCTCGGAAGGCCTCG	0.612													8	53					0	0	1	0	0	A	34372002	G	A	34372002	4	1	277	1	0	0	0	0	0	1	0	0	8211	1124	39	2	1208	2	KIAA1161	9	34372002	Nonsense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08		34372002	106841429	50	11989											
C9orf24	84688	broad.mit.edu	37	chr9	34381050	34381050	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggccgggcagcgggtccacGcacccgcatcggggcgtgat	5	4	17	15	7	0	1	0	1	0	0	2	1	1	1	3	5	1	3	3	5	0	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr9:34381050G>A	uc003zuh.1	-	4	770	c.552C>T	c.(550-552)tgC>tgT	p.C184C	C9orf24_uc003zug.1_Silent_p.C49C|C9orf24_uc022bgb.1_Silent_p.C49C|C9orf24_uc003zuf.1_Intron|C9orf24_uc003zui.1_Silent_p.C49C	NM_032596	NP_115985	Q8NCR6	CI024_HUMAN	Homo sapiens chromosome 9 open reading frame 24 (C9orf24), transcript variant 1, mRNA.	184										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		GCGGGTCCACGCACCCGCATC	0.677													3	23					0	0	1	0	0	A	34381050	G	A	34381050	2	1	277	1	0	0	0	0	0	0	0	1	2475	1079	38	1		1	C9orf24	9	34381050	Silent	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	9048	34381050	106832381	51	11990											
COL27A1	85301	broad.mit.edu	37	chr9	116930987	116930987	+	Frame_Shift_Del	DEL	C	C	-																															tcaattgtgcccatcaaaagCccccatcctacccagaaaac																										TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr9:116930987delC	uc011lxl.2	+	2	1152	c.1152delC	c.(1150-1152)agcfs	p.S384fs	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc010mvd.2_Frame_Shift_Del_p.S234fs	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	384	Pro-rich.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CCATCAAAAGCCCCCATCCTA	0.532													12	218	---	---	---	---						-	116930987	C	-	116930987	7	5	277	1	0	1	0	1	0	0	0	0	3685	738	26	0	1162	0	COL27A1	9	116930987	Frame_Shift_Del	DEL	C	TCGA-P5-A5EV-01A-11D-A27K-08	82549937	116930987	24282444	52	11991											
TNFSF8	944	broad.mit.edu	37	chr9	117666521	117666521	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaccagggaattggatcAccagattcccatcctgatat	14	9	7	11	0	1	2	1	1	0	1	3	4	3	4	4	2	1	0	4	2	3	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr9:117666521A>G	uc004bji.2	-	3	687	c.395T>C	c.(394-396)gTg>gCg	p.V132A	TNFSF8_uc022bmi.1_Missense_Mutation_p.V132A	NM_001244	NP_001235	P32971	TNFL8_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 8 (TNFSF8), transcript variant 1, mRNA.	132					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						GAATTGGATCACCAGATTCCC	0.408													4	132					0	0	1	0	0	G	117666521	A	G	117666521	3	3	277	1	0	0	0	0	1	0	0	0	16308	159	6	3	313	3	TNFSF8	9	117666521	Missense_Mutation	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	735534	117666521	23546910	53	11992											
PFKFB3	5209	broad.mit.edu	37	chr10	6257194	6257194	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccgtccacagtgttcaacgtCggggagtatcgccgggaggc	7	7	15	12	5	1	0	1	0	0	0	4	2	2	2	3	4	1	2	3	4	2	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr10:6257194C>G	uc001ije.3	+	2	597	c.213C>G	c.(211-213)gtC>gtG	p.V71V	PFKFB3_uc001ijd.3_Silent_p.V51V|PFKFB3_uc009xii.3_Non-coding_Transcript|PFKFB3_uc010qaw.2_Silent_p.V85V|PFKFB3_uc001ijf.3_Silent_p.V71V	NM_004566	NP_004557	Q16875	F263_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 (PFKFB3), transcript variant 1, mRNA.	71	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						TGTTCAACGTCGGGGAGTATC	0.577													13	35					0	0	1	0	0	G	6257194	C	G	6257194	2	3	277	1	0	0	0	0	0	0	0	1	11762	871	31	5		5	PFKFB3	10	6257194	Silent	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		6257194	129277553	54	11993											
ANXA7	310	broad.mit.edu	37	chr10	75148122	75148122	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatctcttatagcatcgaaGttggcagctggtcggatagt	9	12	12	8	2	1	0	0	0	1	0	4	2	1	1	0	3	2	5	0	3	4	4			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr10:75148122G>C	uc001jtz.2	-	6	625	c.552C>G	c.(550-552)aaC>aaG	p.N184K	ANXA7_uc001jua.2_Missense_Mutation_p.N162K|ANXA7_uc010qki.1_Missense_Mutation_p.N72K|ANXA7_uc009xre.3_Missense_Mutation_p.N91K|ANXA7_uc009xrf.1_Missense_Mutation_p.N104K	NM_004034	NP_004025	P20073	ANXA7_HUMAN	Homo sapiens annexin A7 (ANXA7), transcript variant 2, mRNA.	184							calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					TAGCATCGAAGTTGGCAGCTG	0.378													21	46					0	0	1	0	0	C	75148122	G	C	75148122	3	2	277	1	0	0	0	0	1	0	0	0	723	1020	36	5	946	5	ANXA7	10	75148122	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	68890928	75148122	60386625	55	11994											
DLG5	9231	broad.mit.edu	37	chr10	79589994	79589994	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttaagcggccatcagcaaTgcttcctttgtccactttag	8	13	7	13	1	1	0	1	0	0	0	3	0	3	0	4	1	3	2	4	1	3	5			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr10:79589994T>A	uc001jzk.3	-	10	2060	c.1990A>T	c.(1990-1992)Att>Ttt	p.I664F	DLG5_uc001jzj.3_Missense_Mutation_p.I419F|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Missense_Mutation_p.I268F	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	664	PDZ 1.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CCATCAGCAATGCTTCCTTTG	0.542													32	76					0	0	1	0	0	A	79589994	T	A	79589994	3	1	277	1	0	0	0	0	1	0	0	0	4558	1464	51	5	3857	5	DLG5	10	79589994	Missense_Mutation	SNP	T	TCGA-P5-A5EV-01A-11D-A27K-08	4441872	79589994	55944753	56	11995											
GHITM	27069	broad.mit.edu	37	chr10	85901358	85901358	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgaagaattccatcacgaaGaatcaatggctgttaacacc	15	9	8	9	1	2	3	2	1	0	2	3	4	3	3	2	1	1	2	2	1	6	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr10:85901358G>C	uc001kcs.1	+	1	306	c.102G>C	c.(100-102)aaG>aaC	p.K34N	GHITM_uc010qma.1_5'UTR|GHITM_uc010qmb.1_5'Flank	NM_014394	NP_055209	Q9H3K2	GHITM_HUMAN	Homo sapiens growth hormone inducible transmembrane protein (GHITM), mRNA.	34					apoptosis	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						CCATCACGAAGAATCAATGGC	0.448													33	77					0	0	1	0	0	C	85901358	G	C	85901358	3	2	277	1	0	0	0	0	1	0	0	0	6370	933	33	5	104	5	GHITM	10	85901358	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	6311364	85901358	49633389	57	11996											
CD151	977	broad.mit.edu	37	chr11	837606	837606	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgagaccatgcctccaacatCtacaaggtggaggtgggtgt	10	8	13	10	1	1	1	0	0	1	1	2	3	2	2	3	4	3	0	3	4	3	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:837606C>G	uc001lry.3	+	6	747	c.603C>G	c.(601-603)atC>atG	p.I201M	CD151_uc001lrx.3_Non-coding_Transcript|CD151_uc001lrz.3_Missense_Mutation_p.I201M|CD151_uc001lsa.3_Missense_Mutation_p.I201M|CD151_uc001lsb.3_Missense_Mutation_p.I201M	NM_004357	NP_620599	P48509	CD151_HUMAN	Homo sapiens CD151 molecule (Raph blood group) (CD151), transcript variant 1, mRNA.	201					cell adhesion|hemidesmosome assembly	cytosol|integral to plasma membrane|membrane fraction	protein binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTCCAACATCTACAAGGTGG	0.642													5	66					0	0	1	0	0	G	837606	C	G	837606	3	3	277	1	0	0	0	0	1	0	0	0	2965	903	32	5	621	5	CD151	11	837606	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		837606	134168910	58	11997											
MUC5B	727897	broad.mit.edu	37	chr11	1265832	1265832	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcctccactccagagactgtCcacacctccacagtgcttac	9	9	5	18	0	0	1	0	0	0	1	5	2	5	1	6	0	2	1	6	0	1	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:1265832C>G	uc001lta.3	+	30	7781	c.7722C>G	c.(7720-7722)gtC>gtG	p.V2574V		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	2574	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).|V -> A (in Ref. 4; CAA96577).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGAGACTGTCCACACCTCCA	0.652													77	204					0	0	1	0	0	G	1265832	C	G	1265832	2	3	277	1	0	0	0	0	0	0	0	1	9979	842	30	5		5	MUC5B	11	1265832	Silent	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	428226	1265832	133740684	59	11998											
LGR4	55366	broad.mit.edu	37	chr11	27389533	27389533	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgtctgagacaaaggaatCttcttcatctgcataatcag	13	12	7	9	0	6	1	2	1	4	1	6	3	6	2	0	1	1	1	0	1	3	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:27389533C>G	uc001mrj.4	-	17	3222	c.2737G>C	c.(2737-2739)Gat>Cat	p.D913H	LGR4_uc001mrk.4_Missense_Mutation_p.D889H	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 4 (LGR4), mRNA.	913						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						ACAAAGGAATCTTCTTCATCT	0.532													4	136					0	0	1	0	0	G	27389533	C	G	27389533	3	3	277	1	0	0	0	0	1	0	0	0	8756	913	32	5	122	5	LGR4	11	27389533	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	26123701	27389533	107616983	60	11999											
C11orf41	25758	broad.mit.edu	37	chr11	33564683	33564683	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtgccagaaatgcccaCtcttccagcagagggcagtg	9	8	11	13	0	1	2	0	0	1	2	3	2	3	2	4	1	3	2	4	1	1	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:33564683C>G	uc021qfs.1	+	0	807	c.683C>G	c.(682-684)aCt>aGt	p.T228S	C11orf41_uc001mun.1_Missense_Mutation_p.T228S	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	228						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						GAAATGCCCACTCTTCCAGCA	0.522											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	108					0	0	1	0	0	G	33564683	C	G	33564683	3	3	277	1	0	0	0	0	1	0	0	0	1640	565	20	5	685	5	C11orf41	11	33564683	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	6175150	33564683	101441833	61	12000											
PTPMT1	114971	broad.mit.edu	37	chr11	47587461	47587461	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctctttgcctcggcagctgGtacaggacgagaacgtgcgc	7	8	13	13	4	1	1	0	0	1	1	2	3	1	2	2	3	5	3	2	3	2	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:47587461G>C	uc001nfs.4	+	1	371	c.178G>C	c.(178-180)Gta>Cta	p.V60L	PTPMT1_uc001nfv.4_Missense_Mutation_p.G96A|PTPMT1_uc009ylt.3_Missense_Mutation_p.V60L|PTPMT1_uc001nfu.4_Missense_Mutation_p.G96A|NDUFS3_uc001nft.3_5'UTR	NM_175732	NP_783859	Q8WUK0	PTPM1_HUMAN	Homo sapiens protein tyrosine phosphatase, mitochondrial 1 (PTPMT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	60					inositol phosphate dephosphorylation	mitochondrial inner membrane	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	6						TCGGCAGCTGGTACAGGACGA	0.682													3	59					0	0	1	0	0	C	47587461	G	C	47587461	3	2	277	1	0	0	0	0	1	0	0	0	12778	1261	44	5	289	5	PTPMT1	11	47587461	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	14022778	47587461	87419055	62	12001											
OR5I1	10798	broad.mit.edu	37	chr11	55703522	55703522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagcgatcataggccatggCggccaggatgaaggattctg	11	8	14	8	2	2	1	1	1	1	0	2	4	2	3	2	5	1	0	2	5	3	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:55703522C>T	uc010ris.2	-	0	355	c.355G>A	c.(355-357)Gcc>Acc	p.A119T		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A119T(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TAGGCCATGGCGGCCAGGATG	0.433													5	61					0	0	1	0	0	T	55703522	C	T	55703522	3	4	277	1	0	0	0	0	1	0	0	0	11164	768	27	1	592	1	OR5I1	11	55703522	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	8116061	55703522	79302994	63	12002											
MS4A4A	51338	broad.mit.edu	37	chr11	60068530	60068530	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attagaactacaaaaggcctGgtgagtaatattttcttttt	13	16	7	5	0	1	2	0	1	1	1	1	2	1	2	1	2	2	1	1	2	7	8			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:60068530G>C	uc001noz.3	+	4	522	c.387_splice	c.e4+1	p.L129_splice	MS4A4A_uc001npa.3_Splice_Site_p.L110_splice|MS4A4A_uc001npc.3_Splice_Site_p.L129_splice	NM_148975	NP_076926	Q96JQ5	M4A4A_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 4 (MS4A4A), transcript variant 1, mRNA.	129						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						CAAAAGGCCTGGTGAGTAATA	0.299													8	11					0	0	1	0	0	C	60068530	G	C	60068530	5	2	277	1	0	0	0	0	0	0	1	0	9862	1362	47	5	401	5	MS4A4A	11	60068530	Splice_Site	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	4365008	60068530	74937986	64	12003											
NAA40	79829	broad.mit.edu	37	chr11	63721927	63721927	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catcactcccacgcgggtggGcactgtggtggctgctgcca	5	8	14	14	2	1	0	1	0	0	0	2	0	2	0	2	4	2	3	2	4	0	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:63721927G>C	uc009yoz.3	+	7	817	c.690G>C	c.(688-690)ggG>ggC	p.G230G	NAA40_uc010rmw.2_Silent_p.G190G|NAA40_uc010rmx.2_Silent_p.G209G|NAA40_uc010rmy.2_Non-coding_Transcript	NM_024771	NP_079047	Q86UY6	NAA40_HUMAN	Homo sapiens N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae) (NAA40), mRNA.	230							N-acetyltransferase activity			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						ACGCGGGTGGGCACTGTGGTG	0.582													12	73					0	0	1	0	0	C	63721927	G	C	63721927	2	2	277	1	0	0	0	0	0	0	0	1	10125	1190	42	5		5	NAA40	11	63721927	Silent	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	3653397	63721927	71284589	65	12004											
DDI1	414301	broad.mit.edu	37	chr11	103908169	103908169	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tctacacagccgacccactgGatcgggaagctcaggccaaa	12	5	10	14	2	2	0	1	0	1	0	3	3	2	2	3	3	3	1	3	3	3	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:103908169G>C	uc001phr.2	+	0	862	c.619G>C	c.(619-621)Gat>Cat	p.D207H	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	207					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CGACCCACTGGATCGGGAAGC	0.502													64	94					0	0	1	0	0	C	103908169	G	C	103908169	3	2	277	1	0	0	0	0	1	0	0	0	4328	1174	41	5	621	5	DDI1	11	103908169	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	40186242	103908169	31098347	66	12005											
PHB2	11331	broad.mit.edu	37	chr12	7077734	7077734	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcgagacaacactcgcAgggagatattcaccatctgt	11	9	11	10	2	2	2	1	0	1	2	4	4	2	2	1	2	1	1	1	2	2	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:7077734A>T	uc021quf.1	-	3	527	c.317T>A	c.(316-318)cTg>cAg	p.L106Q	PHB2_uc021qug.1_Missense_Mutation_p.L106Q|PHB2_uc010sft.1_Missense_Mutation_p.L106Q|PHB2_uc010sfu.1_Missense_Mutation_p.L106Q|SCARNA12_uc001qsg.3_5'Flank	NM_007273	NP_001138303	Q99623	PHB2_HUMAN	Homo sapiens prohibitin 2 (PHB2), transcript variant 2, mRNA.	106					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						CAACACTCGCAGGGAGATATT	0.532													13	38					0	0	1	0	0	T	7077734	A	T	7077734	3	4	277	1	0	0	0	0	1	0	0	0	11815	188	7	5	606	5	PHB2	12	7077734	Missense_Mutation	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08		7077734	126774161	67	12006											
CD163L1	283316	broad.mit.edu	37	chr12	7526162	7526162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgacgctgccccaggtccCgttatagaagacttccaatc	9	8	9	15	3	0	2	0	0	0	2	3	3	2	2	5	1	1	2	5	1	4	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:7526162C>T	uc010sge.2	-	13	3540	c.3514G>A	c.(3514-3516)Ggg>Agg	p.G1172R	CD163L1_uc001qsy.3_Missense_Mutation_p.G1162R	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1162	SRCR 11.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCCCAGGTCCCGTTATAGAAG	0.517													126	186					0	0	1	0	0	T	7526162	C	T	7526162	3	4	277	1	0	0	0	0	1	0	0	0	2968	652	23	2	901	2	CD163L1	12	7526162	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	448428	7526162	126325733	68	12007											
HEBP1	50865	broad.mit.edu	37	chr12	13128274	13128274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccagatctcattgcgccGtccgtagggcttcatgggag	7	9	13	12	3	2	1	2	0	1	1	4	2	3	2	3	2	2	2	3	2	1	3	rs76698360	by1000genomes	TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:13128274G>A	uc001rbd.3	-	3	733	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W		NM_015987	NP_057071	Q9NRV9	HEBP1_HUMAN	Homo sapiens heme binding protein 1 (HEBP1), mRNA.	180					circadian rhythm	extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TCATTGCGCCGTCCGTAGGGC	0.587													35	119					0	0	1	0	0	A	13128274	G	A	13128274	3	1	277	1	0	0	0	0	1	0	0	0	7036	1144	40	1	35	1	HEBP1	12	13128274	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	5602112	13128274	120723621	69	12008											
CCDC91	55297	broad.mit.edu	37	chr12	28544295	28544295	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tattgaaaaacagtacatttCtgcaattgagaaacaggcac	17	10	7	7	0	1	2	0	2	1	1	1	3	1	2	0	1	4	3	0	1	6	5			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:28544295C>G	uc001riq.3	+	6	727	c.713C>G	c.(712-714)tCt>tGt	p.S238C	CCDC91_uc001rio.3_Missense_Mutation_p.S208C|CCDC91_uc009zjk.3_Non-coding_Transcript|CCDC91_uc001rip.1_Missense_Mutation_p.S238C|CCDC91_uc009zjl.3_Intron	NM_018318	NP_060788	Q7Z6B0	CCD91_HUMAN	Homo sapiens coiled-coil domain containing 91 (CCDC91), mRNA.	238	Homodimerization.				protein transport	Golgi apparatus|membrane		p.S238F(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					CAGTACATTTCTGCAATTGAG	0.368													27	48					0	0	1	0	0	G	28544295	C	G	28544295	3	3	277	1	0	0	0	0	1	0	0	0	2870	913	32	5	739	5	CCDC91	12	28544295	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	15416021	28544295	105307600	70	12009											
SYT10	341359	broad.mit.edu	37	chr12	33529816	33529816	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggatccttgactatcaaaActggtcgcccggccaggtaa	11	8	10	12	2	1	1	1	1	0	0	3	2	2	2	3	4	1	1	3	4	4	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:33529816A>G	uc001rll.1	-	6	1818	c.1521T>C	c.(1519-1521)agT>agC	p.S507S	SYT10_uc009zju.1_Silent_p.S317S	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	507						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GACTATCAAAACTGGTCGCCC	0.413													35	61					0	0	1	0	0	G	33529816	A	G	33529816	2	3	277	1	0	0	0	0	0	0	0	1	15463	40	2	3		3	SYT10	12	33529816	Silent	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	4985521	33529816	100322079	71	12010											
MYF5	4617	broad.mit.edu	37	chr12	81111280	81111280	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagcaggtggagaactactaTagcctgccgggacagagctg	11	6	15	9	1	0	2	0	0	0	2	0	5	0	3	2	3	6	2	2	3	4	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:81111280T>C	uc001szg.2	+	0	573	c.438T>C	c.(436-438)taT>taC	p.Y146Y		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	146					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						AGAACTACTATAGCCTGCCGG	0.577													102	172					0	0	1	0	0	C	81111280	T	C	81111280	2	2	277	1	0	0	0	0	0	0	0	1	10027	1413	49	3		3	MYF5	12	81111280	Silent	SNP	T	TCGA-P5-A5EV-01A-11D-A27K-08	47581464	81111280	52740615	72	12011											
TMTC2	160335	broad.mit.edu	37	chr12	83289967	83289967	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaatgcaatgggaaaactgTaacaaatggcaagcagaatg	19	6	11	5	0	0	2	0	0	0	2	0	3	0	3	0	2	4	4	0	2	8	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:83289967T>C	uc001szt.3	+	2	1457	c.1025T>C	c.(1024-1026)gTa>gCa	p.V342A	TMTC2_uc001szr.1_Missense_Mutation_p.V342A|TMTC2_uc001szs.1_Missense_Mutation_p.V342A|TMTC2_uc010suk.2_Missense_Mutation_p.V97A	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.	342						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GGGAAAACTGTAACAAATGGC	0.448													6	141					0	0	1	0	0	C	83289967	T	C	83289967	3	2	277	1	0	0	0	0	1	0	0	0	16258	1638	57	3	1035	3	TMTC2	12	83289967	Missense_Mutation	SNP	T	TCGA-P5-A5EV-01A-11D-A27K-08	2178687	83289967	50561928	73	12012											
CUX2	23316	broad.mit.edu	37	chr12	111786107	111786107	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggctgccaatcgggaggAggccctggagtgggagttct	6	7	19	9	2	1	0	0	0	1	0	2	4	1	4	2	6	1	2	2	6	1	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:111786107A>T	uc001tsa.2	+	21	4593	c.4439A>T	c.(4438-4440)gAg>gTg	p.E1480V		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1480						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AATCGGGAGGAGGCCCTGGAG	0.572													5	186					0	0	1	0	0	T	111786107	A	T	111786107	3	4	277	1	0	0	0	0	1	0	0	0	4065	304	11	5	4525	5	CUX2	12	111786107	Missense_Mutation	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	28496140	111786107	22065788	74	12013											
PLBD2	196463	broad.mit.edu	37	chr12	113824841	113824841	+	Silent	SNP	C	C	T																															agcccccgggcccagatcttCcggcggaaccagtcactggt																										TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:113824841C>T	uc001tve.2	+	9	1421	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	PLBD2_uc001tvf.2_Silent_p.F430F	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	Homo sapiens phospholipase B domain containing 2 (PLBD2), transcript variant 1, mRNA.	462					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CCCAGATCTTCCGGCGGAACC	0.607													14	162					0	0	1	0	0	T	113824841	C	T	113824841	2	4	277	1	0	0	0	0	0	0	0	1	12026	854	30	3		3	PLBD2	12	113824841	Silent	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	2038734	113824841	20027054	75	12014	41	3									
PLBD2	196463	broad.mit.edu	37	chr12	113824842	113824842	+	Missense_Mutation	SNP	C	C	T																															gcccccgggcccagatcttcCggcggaaccagtcactggta																										TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:113824842C>T	uc001tve.2	+	9	1422	c.1387C>T	c.(1387-1389)Cgg>Tgg	p.R463W	PLBD2_uc001tvf.2_Missense_Mutation_p.R431W	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	Homo sapiens phospholipase B domain containing 2 (PLBD2), transcript variant 1, mRNA.	463					lipid catabolic process	lysosomal lumen	hydrolase activity	p.R463R(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CCAGATCTTCCGGCGGAACCA	0.607													14	161					0	0	1	0	0	T	113824842	C	T	113824842	3	4	277	1	0	0	0	0	1	0	0	0	12026	643	23	2	1425	2	PLBD2	12	113824842	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	1	113824842	20027053	76	12015	41	3									
PLBD2	196463	broad.mit.edu	37	chr12	113824843	113824843	+	Missense_Mutation	SNP	G	G	T																															cccccgggcccagatcttccGgcggaaccagtcactggtac																										TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:113824843G>T	uc001tve.2	+	9	1423	c.1388G>T	c.(1387-1389)cGg>cTg	p.R463L	PLBD2_uc001tvf.2_Missense_Mutation_p.R431L	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	Homo sapiens phospholipase B domain containing 2 (PLBD2), transcript variant 1, mRNA.	463					lipid catabolic process	lysosomal lumen	hydrolase activity	p.R463R(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CAGATCTTCCGGCGGAACCAG	0.602													14	158					3.41278e-10	3.4797e-10	1	1	0	T	113824843	G	T	113824843	3	4	277	1	0	0	0	0	1	0	0	0	12026	1116	39	5	1426	5	PLBD2	12	113824843	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	1	113824843	20027052	77	12016	41	3									
ATP12A	479	broad.mit.edu	37	chr13	25268628	25268628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactgctcttttaaaattctCagaggtcattttgggtgatg	10	16	9	6	0	3	2	2	1	2	1	4	2	3	2	0	2	2	1	0	2	3	5			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:25268628C>T	uc010aaa.3	+	10	1775	c.1442C>T	c.(1441-1443)tCa>tTa	p.S481L	ATP12A_uc001upp.3_Missense_Mutation_p.S475L	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	475					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TTAAAATTCTCAGAGGTCATT	0.353											OREG0022298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	78					0	0	1	0	0	T	25268628	C	T	25268628	3	4	277	1	0	0	0	0	1	0	0	0	1122	838	29	3	1484	3	ATP12A	13	25268628	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		25268628	89901250	78	12017											
LNX2	222484	broad.mit.edu	37	chr13	28155696	28155696	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaggcaaatatggcagaCtaggtcatcatccacttcat	13	11	8	9	0	3	2	3	1	0	1	4	2	4	2	1	3	0	2	1	3	4	4			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:28155696C>G	uc001url.4	-	1	454	c.145G>C	c.(145-147)Gtc>Ctc	p.V49L	LNX2_uc001urm.1_Missense_Mutation_p.V49L	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	Homo sapiens ligand of numb-protein X 2 (LNX2), mRNA.	49							zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		ATATGGCAGACTAGGTCATCA	0.443													4	109					0	0	1	0	0	G	28155696	C	G	28155696	3	3	277	1	0	0	0	0	1	0	0	0	8866	565	20	5	1963	5	LNX2	13	28155696	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	2887068	28155696	87014182	79	12018											
KL	9365	broad.mit.edu	37	chr13	33591133	33591133	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggctgcgggagctgggcgtGcagcccgtggtcaccctgta	4	7	17	13	4	1	0	1	0	0	0	1	1	1	1	2	4	4	4	2	4	1	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:33591133G>C	uc001uus.3	+	0	563	c.555G>C	c.(553-555)gtG>gtC	p.V185V	KL_uc001uur.1_Intron	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	185	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AGCTGGGCGTGCAGCCCGTGG	0.736													8	6					0	0	1	0	0	C	33591133	G	C	33591133	2	2	277	1	0	0	0	0	0	0	0	1	8331	1306	46	5		5	KL	13	33591133	Silent	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	5435437	33591133	81578745	80	12019											
FARP1	10160	broad.mit.edu	37	chr13	99098434	99098434	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtgttcacaaacttctGcctgttcttctacaaatcac	9	14	7	11	0	5	0	2	0	3	0	5	0	5	0	1	2	3	2	1	2	3	5			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:99098434G>C	uc001vnh.3	+	25	3211	c.2972G>C	c.(2971-2973)tGc>tCc	p.C991S	FARP1_uc001vnj.3_Missense_Mutation_p.C960S	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	960	PH 2.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			ACAAACTTCTGCCTGTTCTTC	0.562											OREG0022474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	61					0	0	1	0	0	C	99098434	G	C	99098434	3	2	277	1	0	0	0	0	1	0	0	0	5676	1319	46	5	3196	5	FARP1	13	99098434	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	65507301	99098434	16071444	81	12020											
LIG4	3981	broad.mit.edu	37	chr13	108861247	108861247	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaatcagagaagccatttcTtcaggagtctgctcgttaga	11	11	10	9	1	4	2	2	0	2	2	5	4	4	3	1	1	2	3	1	1	3	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:108861247T>C	uc001vqn.3	-	1	2643	c.2370A>G	c.(2368-2370)gaA>gaG	p.E790E	LIG4_uc001vqo.3_Silent_p.E790E|LIG4_uc010agf.3_Silent_p.E790E|LIG4_uc001vqp.3_Silent_p.E790E|LIG4_uc010agg.1_Silent_p.E723E|LIG4_uc021rmk.1_Silent_p.E790E	NM_002312	NP_996820	P49917	DNLI4_HUMAN	Homo sapiens ligase IV, DNA, ATP-dependent (LIG4), transcript variant 1, mRNA.	790					DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|T cell differentiation in thymus|T cell receptor V(D)J recombination|cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to X-ray|response to gamma radiation|single strand break repair|somatic stem cell maintenance	DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|condensed chromosome|cytoplasm|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AAGCCATTTCTTCAGGAGTCT	0.388								Non-homologous end-joining					17	36					0	0	1	0	0	C	108861247	T	C	108861247	2	2	277	1	0	0	0	0	0	0	0	1	8783	1606	56	4		4	LIG4	13	108861247	Silent	SNP	T	TCGA-P5-A5EV-01A-11D-A27K-08	9762813	108861247	6308631	82	12021											
HECTD1	25831	broad.mit.edu	37	chr14	31582665	31582665	+	Missense_Mutation	SNP	G	G	C																															tggccccctggtttaacccaGactttgttccatgctcacaa																										TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr14:31582665G>C	uc001wrc.1	-	32	6371	c.5882C>G	c.(5881-5883)tCt>tGt	p.S1961C	HECTD1_uc001wra.1_Missense_Mutation_p.S87C|HECTD1_uc001wrb.1_Missense_Mutation_p.S87C|HECTD1_uc001wrd.1_Missense_Mutation_p.S1429C	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	1961					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GTTTAACCCAGACTTTGTTCC	0.363													4	211					0	0	1	0	0	C	31582665	G	C	31582665	3	2	277	1	0	0	0	0	1	0	0	0	7039	942	33	5	1994	5	HECTD1	14	31582665	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08		31582665	75766875	83	12022	42	2									
HECTD1	25831	broad.mit.edu	37	chr14	31582671	31582671	+	Missense_Mutation	SNP	G	G	C																															cctggtttaacccagactttGttccatgctcacaaaaatcc																										TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr14:31582671G>C	uc001wrc.1	-	32	6365	c.5876C>G	c.(5875-5877)aCa>aGa	p.T1959R	HECTD1_uc001wra.1_Missense_Mutation_p.T85R|HECTD1_uc001wrb.1_Missense_Mutation_p.T85R|HECTD1_uc001wrd.1_Missense_Mutation_p.T1427R	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	1959					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CCCAGACTTTGTTCCATGCTC	0.358													4	199					0	0	1	0	0	C	31582671	G	C	31582671	3	2	277	1	0	0	0	0	1	0	0	0	7039	1377	48	5	2000	5	HECTD1	14	31582671	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	6	31582671	75766869	84	12023	42	2									
TECPR2	9895	broad.mit.edu	37	chr14	102891386	102891386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctaaccttgtatgcgtcaCggcccgggctccggctatgg	6	10	12	13	4	2	0	1	0	1	0	3	0	3	0	3	4	2	3	3	4	3	4			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr14:102891386C>T	uc001ylw.2	+	5	935	c.709C>T	c.(709-711)Cgg>Tgg	p.R237W	TECPR2_uc010txw.2_3'UTR|TECPR2_uc010awl.3_Missense_Mutation_p.R237W|TECPR2_uc010txx.2_Intron	NM_014844	NP_055659	O15040	TCPR2_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 2 (TECPR2), transcript variant 1, mRNA.	237							protein binding	p.R237Q(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GTATGCGTCACGGCCCGGGCT	0.448													5	68					0	0	1	0	0	T	102891386	C	T	102891386	3	4	277	1	0	0	0	0	1	0	0	0	15741	527	19	1	727	1	TECPR2	14	102891386	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	71308715	102891386	4458154	85	12024											
ATP10A	57194	broad.mit.edu	37	chr15	25940187	25940187	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgtggagggtgggcagagaGaggagaacctcatgctcact	11	6	16	8	1	2	3	2	0	0	3	2	6	2	4	1	4	2	2	1	4	1	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:25940187G>C	uc010ayu.3	-	13	2973	c.2867C>G	c.(2866-2868)tCt>tGt	p.S956C		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	956					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGGGCAGAGAGAGGAGAACCT	0.607													26	116					0	0	1	0	0	C	25940187	G	C	25940187	3	2	277	1	0	0	0	0	1	0	0	0	1116	942	33	5	1664	5	ATP10A	15	25940187	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08		25940187	76591205	86	12025											
GCOM1	145781	broad.mit.edu	37	chr15	57976627	57976627	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcaggactcgtgaaattgtGatgccttctaggaactacac	11	10	11	9	1	1	2	0	2	1	0	2	4	1	4	1	3	3	1	1	3	4	4	rs148332683		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:57976627G>C	uc002aei.3	+	12	1463	c.1332G>C	c.(1330-1332)gtG>gtC	p.V444V	GCOM1_uc002aej.3_Silent_p.V416V|GCOM1_uc002aek.3_Intron|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Intron|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Intron|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Intron|GCOM1_uc010bfy.3_Intron|GCOM1_uc002aeo.3_Intron|GCOM1_uc002aer.1_Non-coding_Transcript|GCOM1_uc002aes.3_5'UTR	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	444					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GTGAAATTGTGATGCCTTCTA	0.433													4	164					0	0	1	0	0	C	57976627	G	C	57976627	2	2	277	1	0	0	0	0	0	0	0	1	6304	1277	45	5		5	GCOM1	15	57976627	Silent	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	32036440	57976627	44554765	87	12026											
PDCD7	10081	broad.mit.edu	37	chr15	65425278	65425278	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctccacctcctgcacaCacttcaccctccagcggtca	7	9	4	21	1	3	0	2	0	1	0	7	0	6	0	6	1	2	1	6	1	0	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:65425278C>G	uc002aol.3	-	0	897	c.842G>C	c.(841-843)tGt>tCt	p.C281S		NM_005707	NP_005698	Q8N8D1	PDCD7_HUMAN	Homo sapiens programmed cell death 7 (PDCD7), mRNA.	281					apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						CTCCTGCACACACTTCACCCT	0.667													4	75					0	0	1	0	0	G	65425278	C	G	65425278	3	3	277	1	0	0	0	0	1	0	0	0	11625	478	17	5	635	5	PDCD7	15	65425278	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	7448651	65425278	37106114	88	12027											
ARID3B	10620	broad.mit.edu	37	chr15	74888092	74888092	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggggcacccccagcgcagagCcctccaccagctggtccctc	6	4	11	20	1	0	1	0	0	0	1	3	1	2	1	6	3	3	3	6	3	0	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:74888092C>G	uc002aye.3	+	8	1864	c.1663C>G	c.(1663-1665)Ccc>Gcc	p.P555A	ARID3B_uc002ayd.3_Missense_Mutation_p.P554A|CLK3_uc002ayf.1_5'Flank	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	Homo sapiens AT rich interactive domain 3B (BRIGHT-like) (ARID3B), mRNA.	555	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CAGCGCAGAGCCCTCCACCAG	0.617													6	93					0	0	1	0	0	G	74888092	C	G	74888092	3	3	277	1	0	0	0	0	1	0	0	0	917	739	26	5	1690	5	ARID3B	15	74888092	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	9462814	74888092	27643300	89	12028											
CHSY1	22856	broad.mit.edu	37	chr15	101718744	101718744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcgccctctggtcttggCgttggcattgatcatctcca	5	13	11	12	2	4	1	1	1	3	0	5	2	4	1	2	3	1	2	2	3	0	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:101718744C>T	uc021sxt.1	-	2	1734	c.1258G>A	c.(1258-1260)Gcc>Acc	p.A420T	CHSY1_uc010usd.2_Missense_Mutation_p.A148T	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA.	420					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTGGTCTTGGCGTTGGCATTG	0.577													22	71					0	0	1	0	0	T	101718744	C	T	101718744	3	4	277	1	0	0	0	0	1	0	0	0	3412	768	27	1	1154	1	CHSY1	15	101718744	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	26830652	101718744	812648	90	12029											
C16orf11	146325	broad.mit.edu	37	chr16	615104	615104	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgagccacccggcatgctgGgccctgcagcgccccaaccc	6	3	11	21	3	0	0	0	0	0	0	0	1	0	0	7	2	5	3	7	2	1	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr16:615104G>C	uc002chk.3	+	2	1792	c.1513G>C	c.(1513-1515)Ggc>Cgc	p.G505R	NHLRC4_uc002chl.3_5'Flank|PIGQ_uc010bqw.3_5'Flank|NHLRC4_uc021szs.1_5'Flank	NM_145270	NP_660313	P0CG20	CP011_HUMAN	Homo sapiens chromosome 16 open reading frame 11 (C16orf11), mRNA.	505										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CGGCATGCTGGGCCCTGCAGC	0.741													22	31					0	0	1	0	0	C	615104	G	C	615104	3	2	277	1	0	0	0	0	1	0	0	0	1810	1232	43	5	1519	5	C16orf11	16	615104	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08		615104	89739649	91	12030											
TSC2	7249	broad.mit.edu	37	chr16	2138115	2138115	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgcaacctgcccttcgtggCccgccagatggccctgcacg	5	6	11	19	4	0	1	0	0	0	1	1	1	0	1	6	2	3	2	6	2	1	1	rs137854136		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr16:2138115C>G	uc002con.3	+	39	5241	c.5135C>G	c.(5134-5136)gCc>gGc	p.A1712G	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Missense_Mutation_p.A1689G|TSC2_uc002coo.3_Missense_Mutation_p.A1645G|TSC2_uc010uvv.2_Missense_Mutation_p.A1609G|TSC2_uc010uvw.2_Missense_Mutation_p.A1597G|TSC2_uc002cop.3_Missense_Mutation_p.A1468G|TSC2_uc002coq.3_Missense_Mutation_p.A487G	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	1712	Rap-GAP.		A -> E (in TSC2).		cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity	p.V1711M(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCCTTCGTGGCCCGCCAGATG	0.662			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				71	107					0	0	1	0	0	G	2138115	C	G	2138115	3	3	277	1	0	0	0	0	1	0	0	0	16603	739	26	5	5289	5	TSC2	16	2138115	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	1523011	2138115	88216638	92	12031											
ZFHX3	463	broad.mit.edu	37	chr16	72991939	72991939	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctgcccgcttttgcagtaGacacaggagccccccggctc	6	7	12	16	2	0	1	0	0	0	1	1	2	0	2	4	3	3	5	4	3	1	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr16:72991939G>C	uc002fck.3	-	1	2779	c.2106C>G	c.(2104-2106)gtC>gtG	p.V702V	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	702					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTTTGCAGTAGACACAGGAGC	0.597													13	164					0	0	1	0	0	C	72991939	G	C	72991939	2	2	277	1	0	0	0	0	0	0	0	1	17631	929	33	5		5	ZFHX3	16	72991939	Silent	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	70853824	72991939	17362814	93	12032											
MAF	4094	broad.mit.edu	37	chr16	79633769	79633769	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	caggggactggtgggcaggtCggagttgctcattgccagtt	6	10	17	8	1	1	0	1	0	0	0	2	2	1	2	1	6	2	4	1	6	0	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr16:79633769C>G	uc002ffm.3	-	0	854	c.31G>C	c.(31-33)Gac>Cac	p.D11H	MAF_uc002ffn.3_Missense_Mutation_p.D11H	NM_005360	NP_005351	O75444	MAF_HUMAN	Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog (avian) (MAF), transcript variant 1, mRNA.	11					transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		GTGGGCAGGTCGGAGTTGCTC	0.612			T	IGH@	MM								30	68					0	0	1	0	0	G	79633769	C	G	79633769	3	3	277	1	0	0	0	0	1	0	0	0	9155	884	31	5	1192	5	MAF	16	79633769	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	6641830	79633769	10720984	94	12033											
AIPL1	23746	broad.mit.edu	37	chr17	6331637	6331637	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctgccaaccccagccccaCctgcagcagctcgatcacaa	10	4	6	21	1	1	0	1	0	0	0	2	1	1	0	7	0	6	3	7	0	2	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:6331637C>T	uc002gcp.3	-	3	560	c.465_splice	c.e3+1	p.Q155_splice	AIPL1_uc021toq.1_Splice_Site_p.Q116_splice|AIPL1_uc002gcq.3_Splice_Site_p.Q95_splice|AIPL1_uc002gcr.3_Intron|AIPL1_uc010clk.3_Splice_Site_p.Q133_splice|AIPL1_uc010cll.3_Splice_Site_p.Q155_splice|AIPL1_uc021tor.1_Splice_Site_p.Q155_splice|AIPL1_uc002gcs.3_Splice_Site_p.Q155_splice	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN	Homo sapiens aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), transcript variant 1, mRNA.	155					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		CCCAGCCCCACCTGCAGCAGC	0.657													53	19					0	0	1	0	0	T	6331637	C	T	6331637	5	4	277	1	0	0	0	0	0	0	1	0	436	521	18	3	704	3	AIPL1	17	6331637	Splice_Site	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		6331637	74863573	95	12034											
TP53	7157	broad.mit.edu	37	chr17	7577144	7577144	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaaagctgttccgtcccAgtagattaccactactcagg	10	10	7	14	1	2	1	2	0	0	1	4	1	4	1	4	1	3	3	4	1	4	4			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:7577144A>G	uc002gim.2	-	7	988	c.794T>C	c.(793-795)cTg>cCg	p.L265P	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.L265P|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.L133P|TP53_uc010cnf.1_Missense_Mutation_p.L133P|TP53_uc002gii.1_Missense_Mutation_p.L133P|TP53_uc010cni.1_Missense_Mutation_p.L265P|TP53_uc010cnh.1_Missense_Mutation_p.L265P|TP53_uc002gij.2_Missense_Mutation_p.L265P|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.	265	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		L -> M (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.L265P(30)|p.L265R(9)|p.0?(8)|p.L264L(5)|p.G262_F270delGNLLGRNSF(4)|p.L264fs*81(4)|p.L264del(4)|p.G262_S269delGNLLGRNS(4)|p.L265M(4)|p.L265fs*80(3)|p.L264I(3)|p.?(3)|p.L265del(3)|p.L265L(3)|p.L265_R267delLGR(2)|p.L265_K305del41(2)|p.L265Q(2)|p.264_265insSSGNL(1)|p.E258fs*71(1)|p.L265fs*81(1)|p.G262fs*2(1)|p.L264V(1)|p.L264P(1)|p.L264R(1)|p.S261_L264>R(1)|p.N263fs*5(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)		GTTCCGTCCCAGTAGATTACC	0.522		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)			27	4					0	0	1	0	0	G	7577144	A	G	7577144	3	3	277	1	0	0	0	0	1	0	0	0	16378	188	7	4	492	4	TP53	17	7577144	Missense_Mutation	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	1245507	7577144	73618066	96	12035											
MYH4	4622	broad.mit.edu	37	chr17	10363541	10363541	+	Frame_Shift_Del	DEL	G	G	-																															tgctgcacagtctggcctttGgttacgaactcattgccgac																										TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:10363541delG	uc002gmn.3	-	12	1356	c.1245delC	c.(1243-1245)accfs	p.T415fs	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	415	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.V414I(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTGGCCTTTGGTTACGAACT	0.428													29	108	---	---	---	---						-	10363541	G	-	10363541	7	5	277	1	0	1	0	1	0	0	0	0	10037	1335	47	0	4686	0	MYH4	17	10363541	Frame_Shift_Del	DEL	G	TCGA-P5-A5EV-01A-11D-A27K-08	2786397	10363541	70831669	97	12036											
IKZF3	22806	broad.mit.edu	37	chr17	37947817	37947817	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagatgccccacactgattAcactggaatgggcgttcacc	12	8	9	12	1	1	2	1	1	0	1	1	3	1	3	3	2	2	1	3	2	3	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:37947817A>G	uc002hsu.3	-	4	506	c.444T>C	c.(442-444)tgT>tgC	p.C148C	IKZF3_uc002htd.3_Silent_p.C114C|IKZF3_uc010cwd.3_Intron|IKZF3_uc002hsv.3_Silent_p.C114C|IKZF3_uc010cwe.3_Intron|IKZF3_uc010cwf.3_Intron|IKZF3_uc010cwg.3_Intron|IKZF3_uc002hsw.3_Silent_p.C148C|IKZF3_uc002hsx.3_Intron|IKZF3_uc002hsy.3_Silent_p.C148C|IKZF3_uc002hsz.3_Intron|IKZF3_uc002hta.3_Silent_p.C148C|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Silent_p.C61C|IKZF3_uc002htc.3_Intron	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	148					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|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)			CACACTGATTACACTGGAATG	0.438													4	142					0	0	1	0	0	G	37947817	A	G	37947817	2	3	277	1	0	0	0	0	0	0	0	1	7616	389	14	3		3	IKZF3	17	37947817	Silent	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	27584276	37947817	43247393	98	12037											
HOXB5	3215	broad.mit.edu	37	chr17	46669799	46669799	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tacgcggtccgggcccttttCccgtccggcccggtcatatc	3	10	11	17	6	1	0	1	0	0	0	5	0	4	0	5	4	1	0	5	4	2	4			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:46669799C>G	uc002inr.3	-	1	641	c.582G>C	c.(580-582)ggG>ggC	p.G194G	HOXB3_uc010wlm.2_5'Flank|HOXB3_uc010dbf.3_5'Flank|HOXB3_uc010dbg.3_5'Flank|HOXB-AS3_uc021tzg.1_Intron|HOXB-AS3_uc021tzh.1_Intron|HOXB-AS3_uc021tzi.1_Intron|HOXB-AS3_uc021tzj.1_Intron	NM_002147	NP_002138	P09067	HXB5_HUMAN	Homo sapiens homeobox B5 (HOXB5), mRNA.	194						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						GGGCCCTTTTCCCGTCCGGCC	0.632													40	47					0	0	1	0	0	G	46669799	C	G	46669799	2	3	277	1	0	0	0	0	0	0	0	1	7304	842	30	5		5	HOXB5	17	46669799	Silent	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	8721982	46669799	34525411	99	12038											
ABCA6	23460	broad.mit.edu	37	chr17	67111542	67111542	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttggaacagacaatccattAagaatatttagcagtgaaga	17	10	9	5	0	0	4	0	1	0	3	1	5	1	5	1	1	2	2	1	1	7	5			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:67111542A>G	uc002jhw.1	-	11	1756	c.1581T>C	c.(1579-1581)ctT>ctC	p.L527L		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	527	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ACAATCCATTAAGAATATTTA	0.368													40	65					0	0	1	0	0	G	67111542	A	G	67111542	2	3	277	1	0	0	0	0	0	0	0	1	36	349	13	3		3	ABCA6	17	67111542	Silent	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	20441743	67111542	14083668	100	12039											
GPRC5C	55890	broad.mit.edu	37	chr17	72443103	72443103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggcccagagccaccaggCggccacaccgccgaaagacg	10	1	12	18	5	0	2	0	0	0	2	1	3	0	2	6	3	1	0	6	3	1	0	rs144073326		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:72443103C>T	uc002jkp.3	+	3	1908	c.1397C>T	c.(1396-1398)gCg>gTg	p.A466V	GPRC5C_uc002jkq.3_3'UTR|GPRC5C_uc002jkr.3_Missense_Mutation_p.A433V|GPRC5C_uc002jkt.3_Missense_Mutation_p.A421V|GPRC5C_uc002jku.3_Missense_Mutation_p.A176V	NM_022036	NP_071319	Q9NQ84	GPC5C_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member C (GPRC5C), transcript variant 1, mRNA.	421						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						AGCCACCAGGCGGCCACACCG	0.637													12	179					0	0	1	0	0	T	72443103	C	T	72443103	3	4	277	1	0	0	0	0	1	0	0	0	6726	768	27	1	1419	1	GPRC5C	17	72443103	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	5331561	72443103	8752107	101	12040											
LAMA3	3909	broad.mit.edu	37	chr18	21438713	21438713	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcattccatttggacccaGccaatctcaagggttgtacc	9	11	8	13	0	2	0	2	0	1	0	4	1	3	1	4	2	2	3	4	2	3	4			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr18:21438713G>C	uc002kuq.3	+	33	4428	c.4342G>C	c.(4342-4344)Gcc>Ccc	p.A1448P	LAMA3_uc002kur.3_Missense_Mutation_p.A1448P	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1448	Domain III B.|Laminin EGF-like 12.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTGGACCCAGCCAATCTCAA	0.413													4	111					0	0	1	0	0	C	21438713	G	C	21438713	3	2	277	1	0	0	0	0	1	0	0	0	8607	971	34	5	4476	5	LAMA3	18	21438713	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08		21438713	56638535	102	12041											
MYO5B	4645	broad.mit.edu	37	chr18	47383224	47383224	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtaggccaagccgagttcTccatcttcatttaaatatcc	10	13	7	11	1	3	0	1	0	2	0	5	1	4	0	4	2	1	2	4	2	5	6			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr18:47383224T>G	uc002leb.2	-	29	4269	c.3981A>C	c.(3979-3981)ggA>ggC	p.G1327G	MYO5B_uc002lea.2_Intron	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1327					protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGCCGAGTTCTCCATCTTCAT	0.488													23	35					0	0	1	0	0	G	47383224	T	G	47383224	2	3	277	1	0	0	0	0	0	0	0	1	10079	1538	54	5		5	MYO5B	18	47383224	Silent	SNP	T	TCGA-P5-A5EV-01A-11D-A27K-08	25944511	47383224	30694024	103	12042											
SALL3	27164	broad.mit.edu	37	chr18	76753213	76753213	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cgcccaatgtgtcggtgttcGagcccaaagccagcgccgag	8	6	13	14	5	0	0	0	0	0	0	2	2	0	0	4	1	3	1	4	1	2	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr18:76753213G>C	uc002lmt.3	+	1	1222	c.1222G>C	c.(1222-1224)Gag>Cag	p.E408Q	SALL3_uc010dra.3_Missense_Mutation_p.E15Q	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E408V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GTCGGTGTTCGAGCCCAAAGC	0.657													9	20					0	0	1	0	0	C	76753213	G	C	76753213	3	2	277	1	0	0	0	0	1	0	0	0	13812	1059	37	5	1228	5	SALL3	18	76753213	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	29369989	76753213	1324035	104	12043											
TXNL4A	10907	broad.mit.edu	37	chr18	77748273	77748273	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtacaggacctcgtccatCttcatgcacgtaggatccca	9	10	8	14	2	2	0	1	0	1	0	5	2	4	2	3	2	2	3	3	2	2	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr18:77748273C>G	uc002lnp.3	-	0	260	c.120G>C	c.(118-120)aaG>aaC	p.K40N	TXNL4A_uc002lnr.3_Missense_Mutation_p.K40N|TXNL4A_uc010drf.3_Non-coding_Transcript|TXNL4A_uc010drg.3_Intron	NM_006701	NP_006692	P83876	TXN4A_HUMAN	Homo sapiens thioredoxin-like 4A (TXNL4A), mRNA.	40					cell division|mitosis|spliceosome assembly	nucleoplasm|spliceosomal complex	protein binding			breast(1)|large_intestine(1)|lung(3)	5		all_cancers(4;1.15e-12)|all_epithelial(4;8.61e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0646)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;7.36e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0249)		CCTCGTCCATCTTCATGCACG	0.667													7	18					0	0	1	0	0	G	77748273	C	G	77748273	3	3	277	1	0	0	0	0	1	0	0	0	16802	912	32	5	320	5	TXNL4A	18	77748273	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	995060	77748273	328975	105	12044											
MYO1F	4542	broad.mit.edu	37	chr19	8617006	8617006	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttggagatcttgcccccatCtggctccccacctcggctga	5	10	10	16	1	2	2	0	1	2	1	4	3	3	2	5	3	1	3	5	3	0	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr19:8617006C>G	uc002mkg.3	-	6	685	c.547G>C	c.(547-549)Gat>Cat	p.D183H	MYO1F_uc010xkf.2_Missense_Mutation_p.D183H	NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	183	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TTGCCCCCATCTGGCTCCCCA	0.552													78	124					0	0	1	0	0	G	8617006	C	G	8617006	3	3	277	1	0	0	0	0	1	0	0	0	10073	913	32	5	2837	5	MYO1F	19	8617006	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		8617006	50511977	106	12045											
MUC16	94025	broad.mit.edu	37	chr19	9065338	9065338	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccagcacctctactcacaaGagtggttatctctgagtgtg	9	11	9	12	0	3	2	1	1	2	1	4	2	3	2	2	1	2	2	2	1	3	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr19:9065338G>C	uc002mkp.3	-	2	22312	c.22108C>G	c.(22108-22110)Ctt>Gtt	p.L7370V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7372	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTACTCACAAGAGTGGTTATC	0.493													5	50					0	0	1	0	0	C	9065338	G	C	9065338	3	2	277	1	0	0	0	0	1	0	0	0	9973	942	33	5	21743	5	MUC16	19	9065338	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	448332	9065338	50063645	107	12046											
MUC16	94025	broad.mit.edu	37	chr19	9070563	9070563	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcagggaaaacccagagctgGtttcttccacagggggagtt	10	9	13	9	0	2	1	1	0	1	1	3	3	3	3	2	4	2	3	2	4	2	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr19:9070563G>C	uc002mkp.3	-	2	17087	c.16883C>G	c.(16882-16884)aCc>aGc	p.T5628S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5630	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCCAGAGCTGGTTTCTTCCAC	0.537													3	47					0	0	1	0	0	C	9070563	G	C	9070563	3	2	277	1	0	0	0	0	1	0	0	0	9973	1261	44	5	26968	5	MUC16	19	9070563	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	5225	9070563	50058420	108	12047											
SIGLEC6	946	broad.mit.edu	37	chr19	52034681	52034681	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgaggctggaagggtagtggGcaatctgcagggtacgagga	10	6	19	6	2	1	0	0	0	1	0	1	4	1	2	0	6	2	5	0	6	4	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr19:52034681G>T	uc002pwy.3	-	1	368	c.160C>A	c.(160-162)Ccc>Acc	p.P54T	SIGLEC6_uc002pwz.3_Missense_Mutation_p.P54T|SIGLEC6_uc010ydb.2_Intron|SIGLEC6_uc010ydc.2_Missense_Mutation_p.P54T|SIGLEC6_uc002pxa.3_Missense_Mutation_p.P54T|SIGLEC6_uc010eoz.2_Missense_Mutation_p.P54T|SIGLEC6_uc010epa.2_Missense_Mutation_p.P43T|SIGLEC6_uc010epb.2_Intron	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	54	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGGGTAGTGGGCAATCTGCAG	0.597													32	27					3.99451e-17	4.12678e-17	1	1	0	T	52034681	G	T	52034681	3	4	277	1	0	0	0	0	1	0	0	0	14312	1203	42	5	1262	5	SIGLEC6	19	52034681	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	42964118	52034681	7094302	109	12048											
ZNF71	58491	broad.mit.edu	37	chr19	57133977	57133977	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgagaagccgtacaggtgcgGccagtgcgggaagtccttca	9	6	15	11	4	1	1	1	0	0	1	2	3	2	2	3	3	4	1	3	3	3	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr19:57133977G>C	uc002qnm.4	+	2	1560	c.1322G>C	c.(1321-1323)gGc>gCc	p.G441A	ZNF71_uc021vcg.1_Missense_Mutation_p.G441A	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	441						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		TACAGGTGCGGCCAGTGCGGG	0.647													5	63					0	0	1	0	0	C	57133977	G	C	57133977	3	2	277	1	0	0	0	0	1	0	0	0	18111	1203	42	5	1324	5	ZNF71	19	57133977	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	5099296	57133977	1995006	110	12049											
NKX2-2	4821	broad.mit.edu	37	chr20	21492707	21492707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcccgcctggaaggtggCggctgccaggtcctgggctt	5	8	16	12	2	0	0	0	0	0	0	1	1	1	1	4	6	2	2	4	6	2	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr20:21492707C>T	uc002wsi.3	-	1	1033	c.676G>A	c.(676-678)Gcc>Acc	p.A226T		NM_002509	NP_002500	O95096	NKX22_HUMAN	Homo sapiens NK2 homeobox 2 (NKX2-2), mRNA.	226					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TGGAAGGTGGCGGCTGCCAGG	0.677													4	109					0	0	1	0	0	T	21492707	C	T	21492707	3	4	277	1	0	0	0	0	1	0	0	0	10450	768	27	1	149	1	NKX2-2	20	21492707	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		21492707	41532813	111	12050											
ZNFX1	57169	broad.mit.edu	37	chr20	47887262	47887262	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cagatagatagcagtgctgtCgtattttccagaaatgatat	13	13	9	6	1	0	4	0	1	0	3	2	4	1	4	1	0	2	3	1	0	5	6			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr20:47887262C>G	uc002xui.3	-	2	1334	c.1087G>C	c.(1087-1089)Gac>Cac	p.D363H		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	363							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCAGTGCTGTCGTATTTTCCA	0.473													10	166					0	0	1	0	0	G	47887262	C	G	47887262	3	3	277	1	0	0	0	0	1	0	0	0	18202	884	31	5	4717	5	ZNFX1	20	47887262	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	26394555	47887262	15138258	112	12051											
IFNAR1	3454	broad.mit.edu	37	chr21	34713352	34713352	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctgggtgtcagaatattaCtagtaccaaatgcaactttt	12	14	8	7	0	2	1	1	0	1	1	2	1	2	1	1	1	4	2	1	1	7	6			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr21:34713352C>G	uc002yrn.3	+	2	395	c.248C>G	c.(247-249)aCt>aGt	p.T83S	IFNAR1_uc011adv.2_Missense_Mutation_p.T14S	NM_000629	NP_000620	P17181	INAR1_HUMAN	Homo sapiens interferon (alpha, beta and omega) receptor 1 (IFNAR1), mRNA.	83					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	CAGAATATTACTAGTACCAAA	0.308													3	28					0	0	1	0	0	G	34713352	C	G	34713352	3	3	277	1	0	0	0	0	1	0	0	0	7544	565	20	5	258	5	IFNAR1	21	34713352	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		34713352	13416543	113	12052											
SON	6651	broad.mit.edu	37	chr21	34927038	34927038	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttccaaatcttctgaacAcaaatcacgcaagcgtacca	14	8	6	13	3	3	1	1	1	2	0	4	1	4	1	2	0	3	3	2	0	5	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr21:34927038A>G	uc002yse.1	+	2	5550	c.5501A>G	c.(5500-5502)cAc>cGc	p.H1834R	SON_uc002ysb.1_Missense_Mutation_p.H1834R|SON_uc002ysc.3_Missense_Mutation_p.H1834R|SON_uc002ysd.3_Missense_Mutation_p.H825R|SON_uc002ysf.1_Intron|SON_uc002ysg.3_Missense_Mutation_p.H825R	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	1834					RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TCTTCTGAACACAAATCACGC	0.423													4	71					0	0	1	0	0	G	34927038	A	G	34927038	3	3	277	1	0	0	0	0	1	0	0	0	14926	159	6	3	5511	3	SON	21	34927038	Missense_Mutation	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	213686	34927038	13202857	114	12053											
MCAT	27349	broad.mit.edu	37	chr22	43529109	43529109	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggtctgcagcacatccacGgcgctgtaggacttccaggc	8	7	13	13	2	1	0	0	0	1	0	3	1	3	1	2	4	2	4	2	4	1	2	rs139106285	byFrequency	TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr22:43529109G>A	uc003bdl.1	-	3	1162	c.1113C>T	c.(1111-1113)gcC>gcT	p.A371A	MCAT_uc003bdm.1_3'UTR	NM_173467	NP_775738	Q8IVS2	FABD_HUMAN	Homo sapiens malonyl CoA:ACP acyltransferase (mitochondrial) (MCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	371					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				GCACATCCACGGCGCTGTAGG	0.617													5	240					0	0	1	0	0	A	43529109	G	A	43529109	2	1	277	1	0	0	0	0	0	0	0	1	9372	1103	39	2		2	MCAT	22	43529109	Silent	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08		43529109	7775457	115	12054											
BRD1	23774	broad.mit.edu	37	chr22	50217117	50217117	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccccagcggtcgtcatctgtCtttttgaaggcaccaccctt	6	12	8	15	2	3	1	1	1	2	0	4	1	3	1	4	2	1	1	4	2	1	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr22:50217117C>G	uc011arg.2	-	0	863	c.849G>C	c.(847-849)aaG>aaC	p.K283N	BRD1_uc011arf.2_5'UTR|BRD1_uc021wrv.1_Non-coding_Transcript|BRD1_uc003biv.3_Missense_Mutation_p.K283N|BRD1_uc021wrw.1_Non-coding_Transcript|BRD1_uc003biu.4_Missense_Mutation_p.K283N	NM_014577	NP_055392	O95696	BRD1_HUMAN	Homo sapiens bromodomain containing 1 (BRD1), mRNA.	283					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CGTCATCTGTCTTTTTGAAGG	0.647													8	108					0	0	1	0	0	G	50217117	C	G	50217117	3	3	277	1	0	0	0	0	1	0	0	0	1501	912	32	5	2375	5	BRD1	22	50217117	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	6688008	50217117	1087449	116	12055											
PANX2	56666	broad.mit.edu	37	chr22	50609371	50609371	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctggtcaccctggtcttcaCcaagaacttcgcaggtgagg	8	9	12	12	1	3	2	2	1	1	1	4	2	3	2	2	4	1	2	2	4	2	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr22:50609371C>G	uc003bjn.4	+	0	212	c.212C>G	c.(211-213)aCc>aGc	p.T71S	PANX2_uc003bjp.4_5'UTR|PANX2_uc003bjo.4_Missense_Mutation_p.T71S	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA.	71					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CTGGTCTTCACCAAGAACTTC	0.731													3	10					0	0	1	0	0	G	50609371	C	G	50609371	3	3	277	1	0	0	0	0	1	0	0	0	11421	507	18	5	214	5	PANX2	22	50609371	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	392254	50609371	695195	117	12056											
ATRX	546	broad.mit.edu	37	chrX	76937038	76937038	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attggcaaaatccagtatgtGaagacagcactaaattttca	16	11	7	7	0	1	2	1	1	0	1	2	2	2	2	1	1	1	3	1	1	6	5			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chrX:76937038G>C	uc004ecp.4	-	8	3942	c.3710C>G	c.(3709-3711)tCa>tGa	p.S1237*	ATRX_uc004ecq.4_Nonsense_Mutation_p.S1199*|ATRX_uc004eco.4_Nonsense_Mutation_p.S1022*|ATRX_uc004ecr.2_Nonsense_Mutation_p.S1169*|ATRX_uc010nlx.1_Nonsense_Mutation_p.S1208*|ATRX_uc010nly.1_Nonsense_Mutation_p.S1182*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1237					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCCAGTATGTGAAGACAGCAC	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						43	14					0	0	1	0	0	C	76937038	G	C	76937038	4	2	277	1	0	0	0	0	0	1	0	0	1208	1294	45	5	3876	5	ATRX	23	76937038	Nonsense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08		76937038	78333522	118	12057											
TMCC2	9911	broad.mit.edu	37	chr1	205210633	205210633	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatctctcccccttaagAaaatccagcagctgtcagag	11	10	6	14	0	3	2	2	0	1	2	6	2	5	2	3	0	2	2	3	0	3	2			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr1:205210633A>G	uc021pia.1	+	2	863	c.208_splice	c.e2-1	p.K70_splice	TMCC2_uc010prf.2_Splice_Site	NM_014858	NP_001229854	O75069	TMCC2_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 2 (TMCC2), transcript variant 1, mRNA.	70						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCCCCTTAAGAAAATCCAGCA	0.557													34	33					0	0	1	0	0	G	205210633	A	G	205210633	5	3	278	1	0	0	0	0	0	0	1	0	15990	260	9	3	214	3	TMCC2	1	205210633	Splice_Site	SNP	A	TCGA-P5-A5EW-01A-11D-A27K-08		205210633	44039988	1	12058											
OR2B11	127623	broad.mit.edu	37	chr1	247614765	247614765	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgttcagcacctgccgccCgcagaatggcaattgcaccg	8	8	11	14	3	1	1	1	0	0	1	1	1	1	1	4	1	3	6	4	1	2	3			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr1:247614765C>T	uc010pyx.2	-	0	520	c.520G>A	c.(520-522)Ggg>Agg	p.G174R		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G174R(2)|p.G174V(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			ACCTGCCGCCCGCAGAATGGC	0.597													4	52					0	0	1	0	0	T	247614765	C	T	247614765	3	4	278	1	0	0	0	0	1	0	0	0	10988	652	23	2	436	2	OR2B11	1	247614765	Missense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08	42404132	247614765	1635856	2	12059											
RGPD3	653489	broad.mit.edu	37	chr2	107029596	107029596	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctgagctgcaacatcgtaTttataacaggaagaagtctc	13	10	10	8	1	1	2	0	1	1	1	3	3	1	3	0	2	4	4	0	2	6	4			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr2:107029596T>C	uc010ywi.1	-	21	5267	c.5210A>G	c.(5209-5211)aAt>aGt	p.N1737S		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1737	GRIP.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CAACATCGTATTTATAACAGG	0.438													84	9					0	0	1	0	0	C	107029596	T	C	107029596	3	2	278	1	0	0	0	0	1	0	0	0	13287	1493	52	3	74	3	RGPD3	2	107029596	Missense_Mutation	SNP	T	TCGA-P5-A5EW-01A-11D-A27K-08		107029596	136169777	3	12060											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								23	29					0	0	1	0	0	T	209113112	C	T	209113112	3	4	278	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08	102083516	209113112	34086261	4	12061											
CDCP1	64866	broad.mit.edu	37	chr3	45127212	45127212	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacatccccattgttgggaTgggagaaggtgtacggttca	9	12	13	7	1	1	1	1	0	0	1	2	3	2	2	2	4	2	3	2	4	3	5			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr3:45127212T>C	uc003com.3	-	8	2564	c.2429A>G	c.(2428-2430)cAt>cGt	p.H810R		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	810						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		ATTGTTGGGATGGGAGAAGGT	0.552													12	140					0	0	1	0	0	C	45127212	T	C	45127212	3	2	278	1	0	0	0	0	1	0	0	0	3093	1464	51	3	85	3	CDCP1	3	45127212	Missense_Mutation	SNP	T	TCGA-P5-A5EW-01A-11D-A27K-08		45127212	152895218	5	12062											
CHST13	166012	broad.mit.edu	37	chr3	126261320	126261320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggcagcgcgcctcttcCgggacatcagccccttctac	6	8	9	18	3	3	0	1	0	2	0	4	1	4	1	5	2	3	1	5	2	1	3			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr3:126261320C>T	uc003eja.3	+	2	970	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W		NM_152889	NP_690849	Q8NET6	CHSTD_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 13 (CHST13), mRNA.	309					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|chondroitin 4-sulfotransferase activity			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		GCGCCTCTTCCGGGACATCAG	0.692													4	13					0	0	1	0	0	T	126261320	C	T	126261320	3	4	278	1	0	0	0	0	1	0	0	0	3401	643	23	2	935	2	CHST13	3	126261320	Missense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08	81134108	126261320	71761110	6	12063											
MEGF10	84466	broad.mit.edu	37	chr5	126776527	126776527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgggcagtgtacttgccGcactggattcatgggacggc	6	11	14	10	2	2	0	1	0	1	0	2	2	2	2	1	4	2	3	1	4	1	4			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr5:126776527G>A	uc003kuh.4	+	18	2692	c.2330G>A	c.(2329-2331)cGc>cAc	p.R777H	MEGF10_uc003kui.4_Missense_Mutation_p.R777H	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	777	EGF-like 14.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGTACTTGCCGCACTGGATTC	0.468													4	122					0	0	1	0	0	A	126776527	G	A	126776527	3	1	278	1	0	0	0	0	1	0	0	0	9460	1087	38	1	2396	1	MEGF10	5	126776527	Missense_Mutation	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08		126776527	54138733	7	12064											
PCDHGC5	56097	broad.mit.edu	37	chr5	140711256	140711256	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaaagttaaggtactgatCaaagttttggatgtaaatga	15	13	10	3	0	1	2	1	2	0	0	1	3	1	3	0	2	1	5	0	2	7	6			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr5:140711256C>A	uc003lji.2	+	0	1005	c.1005C>A	c.(1003-1005)atC>atA	p.I335I	PCDHGC5_uc011dan.2_Silent_p.I335I	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	338	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTACTGATCAAAGTTTTGG	0.418													34	58					3.86903e-22	4.2873e-22	1	1	0	A	140711256	C	A	140711256	2	1	278	1	0	0	0	0	0	0	0	1	11571	816	29	5		5	PCDHGC5	5	140711256	Silent	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08	13934729	140711256	40204004	8	12065											
GABRP	2568	broad.mit.edu	37	chr5	170236583	170236583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcccaggagtgacgaccGtgttatcaatgaccacactg	10	11	9	11	2	1	2	1	2	0	0	2	4	2	3	3	1	0	1	3	1	2	3			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr5:170236583G>A	uc003mau.3	+	8	1042	c.844G>A	c.(844-846)Gtg>Atg	p.V282M	GABRP_uc011dev.2_Intron	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	282						cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGTGACGACCGTGTTATCAAT	0.517											OREG0017032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	79	78					0	0	1	0	0	A	170236583	G	A	170236583	3	1	278	1	0	0	0	0	1	0	0	0	6174	1145	40	1	874	1	GABRP	5	170236583	Missense_Mutation	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08	29525327	170236583	10678677	9	12066											
CYP39A1	51302	broad.mit.edu	37	chr6	46518143	46518143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caattcggcattgcccttccGgctgggggacacccaccaaa	9	7	10	15	2	0	0	0	0	0	0	2	1	1	1	4	4	1	2	4	4	2	3			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr6:46518143G>A	uc003oyf.1	-	11	1574	c.1370C>T	c.(1369-1371)cCg>cTg	p.P457L	CYP39A1_uc011dwa.1_Missense_Mutation_p.P437L|CYP39A1_uc010jzd.1_Missense_Mutation_p.P285L	NM_016593	NP_057677	Q9NYL5	CP39A_HUMAN	Homo sapiens cytochrome P450, family 39, subfamily A, polypeptide 1 (CYP39A1), mRNA.	457					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						TTGCCCTTCCGGCTGGGGGAC	0.458													18	38					0	0	1	0	0	A	46518143	G	A	46518143	3	1	278	1	0	0	0	0	1	0	0	0	4177	1116	39	2	43	2	CYP39A1	6	46518143	Missense_Mutation	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08		46518143	124596924	10	12067											
FBXL6	26233	broad.mit.edu	37	chr8	145580132	145580132	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggctagggaagcctggtccGggagccacccctcgtcccgg	6	5	15	15	3	0	0	0	0	0	0	3	2	2	2	6	5	2	1	6	5	2	1			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr8:145580132G>A	uc003zcb.3	-	6	1129	c.1053C>T	c.(1051-1053)ccC>ccT	p.P351P	C8ORFK29_uc011llb.2_5'Flank|C8ORFK29_uc010mfw.3_5'Flank|C8ORFK29_uc003zby.4_5'Flank|FBXL6_uc003zbz.3_Silent_p.P78P|FBXL6_uc003zca.3_Silent_p.P345P|FBXL6_uc010mfx.3_Silent_p.P112P|SLC52A2_uc003zcc.2_5'Flank|SLC52A2_uc003zce.2_5'Flank|SLC52A2_uc010mfy.2_5'Flank|SLC52A2_uc011llc.2_5'Flank|SLC52A2_uc003zcd.2_5'Flank	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 6 (FBXL6), transcript variant 1, mRNA.	351					proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			AGCCTGGTCCGGGAGCCACCC	0.652													59	58					0	0	1	0	0	A	145580132	G	A	145580132	2	1	278	1	0	0	0	0	0	0	0	1	5723	1103	39	2		2	FBXL6	8	145580132	Silent	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08		145580132	783890	11	12068											
FAM75A6	389730	broad.mit.edu	37	chr9	43625420	43625420	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctcttgcatgagccttgAcagtttgggtttctgggctc	4	15	13	9	0	2	2	0	2	2	0	3	2	2	2	1	3	2	5	1	3	0	4			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr9:43625420A>G	uc011lrb.2	-	3	3296	c.3267T>C	c.(3265-3267)tgT>tgC	p.C1089C		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	1089						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						ATGAGCCTTGACAGTTTGGGT	0.507													143	185					0	0	1	0	0	G	43625420	A	G	43625420	2	3	278	1	0	0	0	0	0	0	0	1	5622	273	10	3		3	FAM75A6	9	43625420	Silent	SNP	A	TCGA-P5-A5EW-01A-11D-A27K-08		43625420	97588011	12	12069											
LRRC32	2615	broad.mit.edu	37	chr11	76371010	76371010	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgaagctgttgtttcgcaGgtccagcacctccagtgaca	8	10	11	12	1	0	2	0	2	0	0	3	2	2	2	3	1	2	6	3	1	1	2			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr11:76371010G>A	uc001oxq.4	-	2	1870	c.1627C>T	c.(1627-1629)Ctg>Ttg	p.L543L	LRRC32_uc001oxr.4_Silent_p.L543L|LRRC32_uc010rsf.2_Silent_p.L529L	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	543						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TTGTTTCGCAGGTCCAGCACC	0.637													14	66					0	0	1	0	0	A	76371010	G	A	76371010	2	1	278	1	0	0	0	0	0	0	0	1	8987	991	35	3		3	LRRC32	11	76371010	Silent	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08		76371010	58635506	13	12070											
FOS	2353	broad.mit.edu	37	chr14	75747676	75747676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgggggcctgccagaggttgCcaccccggagtctgaggagg	6	6	18	11	1	1	2	0	1	1	1	1	4	1	4	5	6	2	1	5	6	0	1			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr14:75747676C>T	uc001xrn.3	+	3	897	c.692C>T	c.(691-693)gCc>gTc	p.A231V	FOS_uc010tva.2_Missense_Mutation_p.A195V|FOS_uc010asi.3_Missense_Mutation_p.A117V	NM_005252	NP_005243	P01100	FOS_HUMAN	Homo sapiens FBJ murine osteosarcoma viral oncogene homolog (FOS), mRNA.	231					DNA methylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|SMAD protein signal transduction|Toll signaling pathway|cellular response to reactive oxygen species|inflammatory response|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		R-SMAD binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)		CCAGAGGTTGCCACCCCGGAG	0.607													4	153					0	0	1	0	0	T	75747676	C	T	75747676	3	4	278	1	0	0	0	0	1	0	0	0	5985	739	26	3	706	3	FOS	14	75747676	Missense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08		75747676	31601864	14	12071											
LDHAL6B	92483	broad.mit.edu	37	chr15	59499792	59499792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtaatctggatactgctcGttttcgtttcttgattggac	6	18	9	8	2	2	1	0	1	2	0	4	3	2	3	0	2	2	4	0	2	2	7			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr15:59499792G>A	uc002agb.3	+	0	751	c.653G>A	c.(652-654)cGt>cAt	p.R218H	MYO1E_uc002aga.3_Intron	NM_033195	NP_149972	Q9BYZ2	LDH6B_HUMAN	Homo sapiens lactate dehydrogenase A-like 6B (LDHAL6B), mRNA.	218					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	GATACTGCTCGTTTTCGTTTC	0.438													5	124					0	0	1	0	0	A	59499792	G	A	59499792	3	1	278	1	0	0	0	0	1	0	0	0	8700	1145	40	1	655	1	LDHAL6B	15	59499792	Missense_Mutation	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08		59499792	43031600	15	12072											
SCAPER	49855	broad.mit.edu	37	chr15	77087752	77087752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacacctgtgggagccagaCgaggagctggcactgtgcca	9	6	15	11	1	0	2	0	1	0	1	0	5	0	4	3	3	3	2	3	3	0	0			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr15:77087752C>T	uc002bby.3	-	6	700	c.641G>A	c.(640-642)cGt>cAt	p.R214H	SCAPER_uc002bbx.3_5'UTR|SCAPER_uc002bbz.1_Missense_Mutation_p.R79H|SCAPER_uc002bca.1_Missense_Mutation_p.R79H|SCAPER_uc002bcb.1_Missense_Mutation_p.R214H|SCAPER_uc002bcc.1_Missense_Mutation_p.R214H	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA.	213						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						GGGAGCCAGACGAGGAGCTGG	0.418													4	58					0	0	1	0	0	T	77087752	C	T	77087752	3	4	278	1	0	0	0	0	1	0	0	0	13878	536	19	1	3699	1	SCAPER	15	77087752	Missense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08	17587960	77087752	25443640	16	12073											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr17:7577120C>T	uc002gim.2	-	7	1012	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			42	2					0	0	1	0	0	T	7577120	C	T	7577120	3	4	278	1	0	0	0	0	1	0	0	0	16378	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08		7577120	73618090	17	12074											
ABCA7	10347	broad.mit.edu	37	chr19	1056970	1056970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgccatgtcctttgtcccgGccagcttcactcttgtcctc	3	15	7	16	1	2	0	1	0	1	0	6	0	5	0	5	1	2	1	5	1	0	4			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr19:1056970G>A	uc002lqw.4	+	33	4882	c.4651G>A	c.(4651-4653)Gcc>Acc	p.A1551T	ABCA7_uc002lqy.3_Missense_Mutation_p.A22T|ABCA7_uc010dsc.3_5'Flank	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	1551					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	p.P1550Q(1)|p.P1550P(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		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)		CTTTGTCCCGGCCAGCTTCAC	0.592													4	144					0	0	1	0	0	A	1056970	G	A	1056970	3	1	278	1	0	0	0	0	1	0	0	0	37	1203	42	3	4781	3	ABCA7	19	1056970	Missense_Mutation	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08		1056970	58072013	18	12075											
TNFSF9	8744	broad.mit.edu	37	chr19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-																															ccttgggccctggtcgcgggGctgctgctgctgctgctgct																										TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr19:6531149_6531151delGCT	uc002mfh.2	+	0	140_142	c.102_104delGCT	c.(100-105)gggctg>ggg	p.L41del		NM_003811	NP_003802	P41273	TNFL9_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 9 (TNFSF9), mRNA.	41	Poly-Leu.				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768													7	104	---	---	---	---						-	6531151	GCT	-	6531149	7	5	278	1	0	1	0	1	0	0	0	0	16309	1190	42	0	104	0	TNFSF9	19	6531149	In_Frame_Del	DEL	GCT	TCGA-P5-A5EW-01A-11D-A27K-08	5474179	6531149	52597834	19	12076											
KRI1	65095	broad.mit.edu	37	chr19	10668901	10668901	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacggccccgtagtactcGtccccaaagcacttctgcag	8	8	8	17	3	1	0	0	0	1	0	4	0	3	0	5	1	3	4	5	1	3	3			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr19:10668901G>A	uc002moy.1	-	12	1236	c.1227C>T	c.(1225-1227)gaC>gaT	p.D409D	KRI1_uc002mow.1_Silent_p.D28D|KRI1_uc002mox.1_Silent_p.D405D	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	Homo sapiens KRI1 homolog (S. cerevisiae) (KRI1), mRNA.	409	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CGTAGTACTCGTCCCCAAAGC	0.602													20	66					0	0	1	0	0	A	10668901	G	A	10668901	2	1	278	1	0	0	0	0	0	0	0	1	8444	1136	40	1		1	KRI1	19	10668901	Silent	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08	4137752	10668901	48460082	20	12077											
CCDC105	126402	broad.mit.edu	37	chr19	15133702	15133702	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaccgacaagctgcagtGccacatcacgtacctggaaa	12	5	11	13	2	1	0	1	0	0	0	1	2	1	1	3	2	4	4	3	2	3	1			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr19:15133702G>T	uc002nae.2	+	6	1370	c.1271G>T	c.(1270-1272)tGc>tTc	p.C424F		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	424					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						AAGCTGCAGTGCCACATCACG	0.617													9	14					3.09899e-07	3.25791e-07	1	1	0	T	15133702	G	T	15133702	3	4	278	1	0	0	0	0	1	0	0	0	2740	1319	46	5	1297	5	CCDC105	19	15133702	Missense_Mutation	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08	4464801	15133702	43995281	21	12078											
MRPS12	6183	broad.mit.edu	37	chr19	39423018	39423018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggctacctgctccatggctaCcctgaaccagatgcaccgcc	8	7	9	17	1	0	2	0	1	0	1	1	2	1	2	6	2	5	4	6	2	3	2			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr19:39423018C>T	uc002okc.3	+	2	405	c.95C>T	c.(94-96)aCc>aTc	p.T32I	SARS2_uc002ojz.2_5'Flank|SARS2_uc010xup.1_5'Flank|SARS2_uc002oka.2_5'Flank|SARS2_uc010xuq.1_Intron|SARS2_uc010xur.1_5'Flank|SARS2_uc010xus.1_5'Flank|MRPS12_uc002okd.3_Missense_Mutation_p.T32I|MRPS12_uc002oke.3_Missense_Mutation_p.T32I	NM_033362	NP_203527	O15235	RT12_HUMAN	Homo sapiens mitochondrial ribosomal protein S12 (MRPS12), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	32					translation	mitochondrial ribosome|small ribosomal subunit	protein binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)	2	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TCCATGGCTACCCTGAACCAG	0.652													6	193					0	0	1	0	0	T	39423018	C	T	39423018	3	4	278	1	0	0	0	0	1	0	0	0	9823	507	18	3	101	3	MRPS12	19	39423018	Missense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08	24289316	39423018	19705965	22	12079											
PABPC1L	80336	broad.mit.edu	37	chr20	43559296	43559296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcgcctctccaccatgCggaccctgagcaaccccctc	7	6	8	20	2	1	1	0	1	1	0	3	2	1	2	6	1	5	2	6	1	1	0			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr20:43559296C>T	uc010ggv.1	+	7	1250	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W	PABPC1L_uc010zwq.1_Non-coding_Transcript|PABPC1L_uc002xmv.2_Non-coding_Transcript|PABPC1L_uc002xmw.2_5'Flank|PABPC1L_uc002xmx.3_5'Flank	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1-like (PABPC1L), mRNA.	390							RNA binding|nucleotide binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CTCCACCATGCGGACCCTGAG	0.647													8	389					0	0	1	0	0	T	43559296	C	T	43559296	3	4	278	1	0	0	0	0	1	0	0	0	11364	759	27	1	1198	1	PABPC1L	20	43559296	Missense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08		43559296	19466224	23	12080											
BAGE	574	broad.mit.edu	37	chr21	11058322	11058322	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgcttacaaaatgcacatCgctgaaaggggtaaaggaga	16	7	12	6	1	0	2	0	1	0	1	1	3	0	2	0	3	3	4	0	3	6	2			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr21:11058322C>T	uc002yiu.1	-	3	317	c.117_splice	c.e3-1	p.L39_splice	BAGE_uc002yit.1_Splice_Site_p.L39_splice|BAGE_uc002yiv.1_Splice_Site|BAGE_uc002yiw.1_Non-coding_Transcript	NM_182484	NP_872290	Q13072	BAGE1_HUMAN	Homo sapiens B melanoma antigen family, member 5 (BAGE5), mRNA.	39						extracellular region								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGCACATCGCTGAAAGGG	0.383													8	144					0	0	1	0	0	T	11058322	C	T	11058322	5	4	278	1	0	0	0	0	0	0	1	0	1291	898	31	2		2	BAGE	21	11058322	Splice_Site	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08		11058322	37071573	24	12081											
NUDT10	170685	broad.mit.edu	37	chrX	51076024	51076024	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccgagaggtgtacgaagaGgcgggagtcaaggggaagtt	11	6	19	5	3	1	2	1	0	0	2	2	6	2	4	1	5	1	2	1	5	4	2	rs143435240	byFrequency	TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chrX:51076024G>A	uc004dph.3	+	1	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_uc004dpi.4_Silent_p.E69E	NM_153183	NP_694853	Q8NFP7	NUD10_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 10 (NUDT10), mRNA.	69	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.E69E(16)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657													3	46					0	0	1	0	0	A	51076024	G	A	51076024	2	1	278	1	0	0	0	0	0	0	0	1	10726	991	35	3		3	NUDT10	23	51076024	Silent	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08		51076024	104194536	25	12082											
OPHN1	4983	broad.mit.edu	37	chrX	67413796	67413796	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacttcatttagctccacTgtttcaagcaaaggaaaaga	14	10	6	11	0	2	1	2	0	0	1	3	2	3	2	2	1	2	3	2	1	5	4			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chrX:67413796T>C	uc004dww.4	-	14	1433	c.1139_splice	c.e14-1	p.M380_splice	OPHN1_uc011mpg.2_Splice_Site_p.M380_splice	NM_002547	NP_002538	O60890	OPHN1_HUMAN	Homo sapiens oligophrenin 1 (OPHN1), mRNA.	380	Rho-GAP.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TTAGCTCCACTGTTTCAAGCA	0.408													14	32					0	0	1	0	0	C	67413796	T	C	67413796	5	2	278	1	0	0	0	0	0	0	1	0	10875	1594	55	4	1315	4	OPHN1	23	67413796	Splice_Site	SNP	T	TCGA-P5-A5EW-01A-11D-A27K-08	16337772	67413796	87856764	26	12083											
ABCB7	22	broad.mit.edu	37	chrX	74291461	74291461	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttttcaatgaagcagtctCatacgtcttcaaaaatccat	14	13	4	10	1	4	1	3	1	2	0	6	1	5	1	1	0	2	1	1	0	5	4			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chrX:74291461C>A	uc004ebz.3	-	8	1118	c.1093G>T	c.(1093-1095)Gag>Tag	p.E365*	ABCB7_uc010nlt.3_Nonsense_Mutation_p.E324*|ABCB7_uc004eca.3_Nonsense_Mutation_p.E364*|ABCB7_uc011mqn.2_Nonsense_Mutation_p.E338*|ABCB7_uc010nls.3_Nonsense_Mutation_p.E325*	NM_004299	NP_004290	O75027	ABCB7_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 7 (ABCB7), nuclear gene encoding mitochondrial protein, mRNA.	364	ABC transmembrane type-1.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GAAGCAGTCTCATACGTCTTC	0.333													23	38					1.50039e-11	1.61884e-11	1	1	0	A	74291461	C	A	74291461	4	1	278	1	0	0	0	0	0	1	0	0	46	835	29	5	1200	5	ABCB7	23	74291461	Nonsense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08	6877665	74291461	80979099	27	12084											
ATRX	546	broad.mit.edu	37	chrX	76939758	76939762	+	Frame_Shift_Del	DEL	TTTCT	TTTCT	-																															ccagaacaggaatcatctaaTttcttttcttctccattaca																										TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chrX:76939758_76939762delTTTCT	uc004ecp.4	-	8	1218_1222	c.986_990delAGAAA	c.(985-990)aagaaafs	p.K329fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K291fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K114fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K290fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K329fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K274fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	329					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	AATCATCTAATTTCTTTTCTTCTCC	0.341			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						23	38	---	---	---	---						-	76939762	TTTCT	-	76939758	7	5	278	1	0	1	0	1	0	0	0	0	1208	1490	52	0	6596	0	ATRX	23	76939758	Frame_Shift_Del	DEL	TTTCT	TCGA-P5-A5EW-01A-11D-A27K-08	2648297	76939758	78330802	28	12085											
LONRF3	79836	broad.mit.edu	37	chrX	118123490	118123490	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcagcaccacatgaaagaCcaggaagaagaggaggagaa	19	1	13	8	0	0	5	0	1	0	4	0	8	0	7	2	3	2	2	2	3	4	0			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chrX:118123490C>A	uc004eqw.3	+	3	1210	c.1179C>A	c.(1177-1179)gaC>gaA	p.D393E	LONRF3_uc004eqx.3_Missense_Mutation_p.D352E|LONRF3_uc004eqy.3_Non-coding_Transcript|LONRF3_uc004eqz.3_Missense_Mutation_p.D137E	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 3 (LONRF3), transcript variant 1, mRNA.	393					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						ACATGAAAGACCAGGAAGAAG	0.507													4	51					0.150653	0.150653	1	1	0	A	118123490	C	A	118123490	3	1	278	1	0	0	0	0	1	0	0	0	8896	506	18	5	1193	5	LONRF3	23	118123490	Missense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08	41183732	118123490	37147070	29	12086											
MAGEA6	4105	broad.mit.edu	37	chrX	151870011	151870011	+	Frame_Shift_Del	DEL	G	G	-																															gttagaggtgtttgaggggaGggaagacagtatcttcgggg																										TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chrX:151870011delG	uc022chf.1	+	0	701	c.701delG	c.(700-702)aggfs	p.R234fs	MAGEA6_uc004ffq.1_Frame_Shift_Del_p.R234fs|MAGEA6_uc004ffr.1_Frame_Shift_Del_p.R234fs	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	234	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGAGGGGAGGGAAGACAGT	0.532													144	218	---	---	---	---						-	151870011	G	-	151870011	7	5	278	1	0	1	0	1	0	0	0	0	9170	1000	35	0	703	0	MAGEA6	23	151870011	Frame_Shift_Del	DEL	G	TCGA-P5-A5EW-01A-11D-A27K-08	33746521	151870011	3400549	30	12087											
VAV3	10451	broad.mit.edu	37	chr1	108507542	108507544	+	Splice_Site	DEL	GCC	GCC	-																															gggcgggcggcaaggatgcgGccgccgccgccgccgccgcg																								rs71796067		TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr1:108507542_108507544delGCC	uc001dvk.1	-	1	1	c.-53_splice	c.e1-1		VAV3_uc010ouw.1_Splice_Site|VAV3_uc001dvl.1_5'Flank|VAV3_uc010oux.1_Splice_Site	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.						B cell receptor signaling pathway|angiogenesis|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CAAGGATGCGgccgccgccgccg	0.773													3	4	---	---	---	---						-	108507544	GCC	-	108507542	8	5	279	1	0	1	0	1	0	0	1	0	17130	1218	42	0		0	VAV3	1	108507542	Splice_Site	DEL	GCC	TCGA-P5-A5EX-01A-12D-A289-08		108507542	140743079	1	12088											
KCND3	3752	broad.mit.edu	37	chr1	112524444	112524445	+	Frame_Shift_Ins	INS	-	-	G																															ccgcaggccctgggagtggcINSgggaaaacttgaagatcctg																										TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr1:112524444_112524445insG	uc001ebu.1	-	1	1384_1385	c.904_905insC	c.(904-906)cgcfs	p.R302fs	KCND3_uc001ebv.1_Frame_Shift_Ins_p.R302fs	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	302						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		CTGGGAGTGGCGGGAAAACTTG	0.579													9	69	---	---	---	---						G	112524445	-	G	112524444	7	5	279	1	0	1	1	0	0	0	0	0	8020	768	27	0	1090	0	KCND3	1	112524444	Frame_Shift_Ins	INS	-	TCGA-P5-A5EX-01A-12D-A289-08	4016902	112524444	136726177	2	12089											
ZC3H6	376940	broad.mit.edu	37	chr2	113089666	113089666	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctagggatcacggttcatcAtccacatcagagctagcaac	12	8	8	13	1	4	1	4	0	0	1	5	2	5	2	2	2	3	3	2	2	3	3			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr2:113089666A>G	uc002thq.1	+	11	3565	c.3171A>G	c.(3169-3171)tcA>tcG	p.S1057S		NM_198581	NP_940983	P61129	ZC3H6_HUMAN	Homo sapiens zinc finger CCCH-type containing 6 (ZC3H6), mRNA.	1057							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						ACGGTTCATCATCCACATCAG	0.443													16	23					0	0	1	0	0	G	113089666	A	G	113089666	2	3	279	1	0	0	0	0	0	0	0	1	17568	204	8	3		3	ZC3H6	2	113089666	Silent	SNP	A	TCGA-P5-A5EX-01A-12D-A289-08		113089666	130109707	3	12090											
TTN	7273	broad.mit.edu	37	chr2	179410161	179410161	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaagcttcgctgggctcActgttaccagctgcattcac	7	12	10	12	1	2	0	2	0	0	0	3	1	2	1	1	2	4	6	1	2	2	4			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr2:179410161A>G	uc021vsy.1	-	292	88197	c.87972T>C	c.(87970-87972)agT>agC	p.S29324S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.S23019S|TTN_uc021vta.1_Silent_p.S22952S|TTN_uc021vtb.1_Silent_p.S22827S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30251	Ig-like 134.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGCTGGGCTCACTGTTACCAG	0.468													50	90					0	0	1	0	0	G	179410161	A	G	179410161	2	3	279	1	0	0	0	0	0	0	0	1	16732	156	6	3		3	TTN	2	179410161	Silent	SNP	A	TCGA-P5-A5EX-01A-12D-A289-08	66320495	179410161	63789212	4	12091											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								15	48					0	0	1	0	0	T	209113112	C	T	209113112	3	4	279	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A5EX-01A-12D-A289-08	29702951	209113112	34086261	5	12092											
CLDN11	5010	broad.mit.edu	37	chr3	170141061	170141061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccggatgggccaggagcccGgtgtggctaagtacaggcgg	7	6	18	10	3	0	0	0	0	0	0	1	2	1	2	3	7	2	2	3	7	2	2			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr3:170141061G>A	uc003fgx.3	+	1	539	c.337G>A	c.(337-339)Ggt>Agt	p.G113S	CLDN11_uc011bpt.1_Missense_Mutation_p.G113S|CLDN11_uc003fgy.3_Missense_Mutation_p.G29S	NM_005602	NP_001171985	O75508	CLD11_HUMAN	Homo sapiens claudin 11 (CLDN11), transcript variant 1, mRNA.	113					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CCAGGAGCCCGGTGTGGCTAA	0.602													52	106					0	0	1	0	0	A	170141061	G	A	170141061	3	1	279	1	0	0	0	0	1	0	0	0	3473	1116	39	2	343	2	CLDN11	3	170141061	Missense_Mutation	SNP	G	TCGA-P5-A5EX-01A-12D-A289-08		170141061	27881369	6	12093											
HTT	3064	broad.mit.edu	37	chr4	3076604	3076609	+	In_Frame_Del	DEL	CAGCAG	CAGCAG	-																															tcgagtccctcaagtccttcCagcagcagcagcagcagcag																								rs71180116		TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr4:3076604_3076609delCAGCAG	uc021xkv.1	+	0	197_202	c.52_57delCAGCAG	c.(52-57)cagcagdel	p.QQ36del	HTT-AS1_uc021xku.1_5'Flank	NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	36	Poly-Gln.				Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CAAGTCCTTCcagcagcagcagcagc	0.704													3	3	---	---	---	---						-	3076609	CAGCAG	-	3076604	7	5	279	1	0	1	0	1	0	0	0	0	7457	595	21	0	54	0	HTT	4	3076604	In_Frame_Del	DEL	CAGCAG	TCGA-P5-A5EX-01A-12D-A289-08		3076604	188077672	7	12094											
RREB1	6239	broad.mit.edu	37	chr6	7229901	7229901	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggtggtggccacctccacGcccccgcctctcatcaacgc	6	6	9	20	4	2	0	2	0	1	0	4	0	3	0	6	3	1	0	6	3	1	0			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr6:7229901G>C	uc003mxb.3	+	9	2061	c.1569G>C	c.(1567-1569)acG>acC	p.T523T	RREB1_uc021yky.1_Silent_p.T523T|RREB1_uc003mxc.3_Silent_p.T523T|RREB1_uc010jnx.3_Silent_p.T523T|RREB1_uc021ykz.1_Silent_p.T523T|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	523	Pro-rich.				Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCACCTCCACGCCCCCGCCTC	0.687													9	119					0	0	1	0	0	C	7229901	G	C	7229901	2	2	279	1	0	0	0	0	0	0	0	1	13679	1074	38	5		5	RREB1	6	7229901	Silent	SNP	G	TCGA-P5-A5EX-01A-12D-A289-08		7229901	163885166	8	12095											
NMBR	4829	broad.mit.edu	37	chr6	142397180	142397180	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttagccaggcgtttccgtgTttccatctgcaaatataaga	10	14	8	9	2	1	1	0	0	1	1	3	1	3	1	3	1	2	3	3	1	4	6			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr6:142397180T>A	uc003qiu.3	-	2	919	c.778A>T	c.(778-780)Aca>Tca	p.T260S		NM_002511	NP_002502	P28336	NMBR_HUMAN	Homo sapiens neuromedin B receptor (NMBR), mRNA.	260					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CGTTTCCGTGTTTCCATCTGC	0.388													25	51					0	0	1	0	0	A	142397180	T	A	142397180	3	1	279	1	0	0	0	0	1	0	0	0	10487	1725	60	5	398	5	NMBR	6	142397180	Missense_Mutation	SNP	T	TCGA-P5-A5EX-01A-12D-A289-08	135167279	142397180	28717887	9	12096											
WIPI2	26100	broad.mit.edu	37	chr7	5256804	5256804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcggagaggtgcaggtcttcGataccattaatttggtgaga	10	12	13	6	2	1	2	0	1	1	2	3	5	1	2	1	4	2	1	1	4	2	4			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr7:5256804G>A	uc003snv.3	+	5	778	c.562G>A	c.(562-564)Gat>Aat	p.D188N	WIPI2_uc003snw.3_Missense_Mutation_p.D188N|WIPI2_uc003snx.3_Missense_Mutation_p.D170N|WIPI2_uc003sny.3_Missense_Mutation_p.D170N|WIPI2_uc010ksv.3_Missense_Mutation_p.D44N|WIPI2_uc003snz.3_Missense_Mutation_p.D129N|WIPI2_uc003soa.3_Missense_Mutation_p.D129N	NM_015610	NP_056425	Q9Y4P8	WIPI2_HUMAN	Homo sapiens WD repeat domain, phosphoinositide interacting 2 (WIPI2), transcript variant 1, mRNA.	188					autophagic vacuole assembly	PAS complex|cytosol|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		GCAGGTCTTCGATACCATTAA	0.527													17	34					0	0	1	0	0	A	5256804	G	A	5256804	3	1	279	1	0	0	0	0	1	0	0	0	17368	1058	37	2	618	2	WIPI2	7	5256804	Missense_Mutation	SNP	G	TCGA-P5-A5EX-01A-12D-A289-08		5256804	153881859	10	12097											
C7orf44	55744	broad.mit.edu	37	chr7	43687182	43687182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccggcatagaacacacCgtggaaaaggatccttgctc	11	6	10	14	2	0	1	0	0	0	1	2	3	1	3	4	3	2	2	4	3	4	2			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr7:43687182C>T	uc003tin.1	-	2	161	c.67G>A	c.(67-69)Ggt>Agt	p.G23S	C7orf44_uc003tij.3_Non-coding_Transcript|C7orf44_uc010kxu.2_Non-coding_Transcript|C7orf44_uc003tio.1_Missense_Mutation_p.G23S|C7orf44_uc003tip.1_Missense_Mutation_p.G23S	NM_018224	NP_060694	Q9GZY4	CG044_HUMAN	Homo sapiens chromosome 7 open reading frame 44 (C7orf44), mRNA.	23						integral to membrane		p.G23S(2)		large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TAGAACACACCGTGGAAAAGG	0.493													32	62					0	0	1	0	0	T	43687182	C	T	43687182	3	4	279	1	0	0	0	0	1	0	0	0	2394	652	23	2	389	2	C7orf44	7	43687182	Missense_Mutation	SNP	C	TCGA-P5-A5EX-01A-12D-A289-08	38430378	43687182	115451481	11	12098											
CROT	54677	broad.mit.edu	37	chr7	87005181	87005181	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcttgatccagagaactTggctttgttagaaaaaattc	12	14	9	6	0	1	3	0	1	1	2	3	4	2	3	1	2	1	2	1	2	5	5			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr7:87005181T>C	uc003uiu.3	+	9	1117	c.872T>C	c.(871-873)tTg>tCg	p.L291S	CROT_uc003uit.3_Missense_Mutation_p.L263S	NM_001143935	NP_001137407	Q9UKG9	OCTC_HUMAN	Homo sapiens carnitine O-octanoyltransferase (CROT), transcript variant 1, mRNA.	263					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	CCAGAGAACTTGGCTTTGTTA	0.368													11	39					0	0	1	0	0	C	87005181	T	C	87005181	3	2	279	1	0	0	0	0	1	0	0	0	3894	1821	63	3	902	3	CROT	7	87005181	Missense_Mutation	SNP	T	TCGA-P5-A5EX-01A-12D-A289-08	43317999	87005181	72133482	12	12099											
FOXP2	93986	broad.mit.edu	37	chr7	114294061	114294061	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcccaaaccatctcccaaAcctgtaagtgcatattgctt	12	10	6	13	0	1	0	0	0	1	0	2	1	1	0	4	0	5	3	4	0	4	4			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr7:114294061A>T	uc003vhb.3	+	9	1637	c.1263A>T	c.(1261-1263)aaA>aaT	p.K421N	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Missense_Mutation_p.K446N|FOXP2_uc003vha.3_Missense_Mutation_p.K329N|FOXP2_uc011kmv.2_Missense_Mutation_p.K420N|FOXP2_uc011kmu.2_Missense_Mutation_p.K438N|FOXP2_uc010ljz.2_Missense_Mutation_p.K329N|FOXP2_uc003vhc.3_Missense_Mutation_p.K446N|FOXP2_uc003vhd.3_Missense_Mutation_p.K421N	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	421					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.L420R(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CATCTCCCAAACCtgtaagtg	0.393													29	73					0	0	1	0	0	T	114294061	A	T	114294061	3	4	279	1	0	0	0	0	1	0	0	0	6027	40	2	5	1431	5	FOXP2	7	114294061	Missense_Mutation	SNP	A	TCGA-P5-A5EX-01A-12D-A289-08	27288880	114294061	44844602	13	12100											
KEL	3792	broad.mit.edu	37	chr7	142638440	142638440	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgaggggcccgtggactcGgaggtgtggagggctgtgag	5	7	22	7	2	0	2	0	2	0	0	1	5	0	5	1	7	0	2	1	7	0	0			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr7:142638440G>A	uc003wcb.3	-	18	2308	c.2098C>T	c.(2098-2100)Cga>Tga	p.R700*		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	700					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)					CCGTGGACTCGGAGGTGTGGA	0.622													57	133					0	0	1	0	0	A	142638440	G	A	142638440	4	1	279	1	0	0	0	0	0	1	0	0	8142	1124	39	2	104	2	KEL	7	142638440	Nonsense_Mutation	SNP	G	TCGA-P5-A5EX-01A-12D-A289-08	28344379	142638440	16500223	14	12101											
KIAA1429	25962	broad.mit.edu	37	chr8	95541443	95541445	+	In_Frame_Del	DEL	TTG	TTG	-																															tcatcttcttctccttcttcTtgttgttcctcttctacttc																										TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr8:95541443_95541445delTTG	uc003ygo.2	-	6	804_806	c.733_735delCAA	c.(733-735)caadel	p.Q245del	KIAA1429_uc003ygp.3_In_Frame_Del_p.Q245del|KIAA1429_uc010maz.2_5'Flank	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	245	Glu-rich.				RNA splicing|mRNA processing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ctccttcttcttgttgttcctct	0.438													10	28	---	---	---	---						-	95541445	TTG	-	95541443	7	5	279	1	0	1	0	1	0	0	0	0	8231	1606	56	0	4829	0	KIAA1429	8	95541443	In_Frame_Del	DEL	TTG	TCGA-P5-A5EX-01A-12D-A289-08		95541443	50822579	15	12102											
BARX1	56033	broad.mit.edu	37	chr9	96714489	96714489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctcgcccggcacctccGccggtttctctgcatccttg	2	11	11	17	4	1	0	0	0	1	0	5	0	3	0	5	3	1	4	5	3	0	2			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr9:96714489G>A	uc010mrh.3	-	3	902	c.722C>T	c.(721-723)gCg>gTg	p.A241V	BARX1_uc004aud.3_Missense_Mutation_p.A87V	NM_021570	NP_067545	Q9HBU1	BARX1_HUMAN	Homo sapiens BARX homeobox 1 (BARX1), mRNA.	241						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)	1						CGGCACCTCCGCCGGTTTCTC	0.682													15	28					0	0	1	0	0	A	96714489	G	A	96714489	3	1	279	1	0	0	0	0	1	0	0	0	1315	1087	38	1	46	1	BARX1	9	96714489	Missense_Mutation	SNP	G	TCGA-P5-A5EX-01A-12D-A289-08		96714489	44498942	16	12103											
NUP98	4928	broad.mit.edu	37	chr11	3697451	3697451	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggctgcgcagttcgtccaTggcatagtcctcaggcatgg	8	9	13	11	2	1	0	1	0	0	0	4	0	3	0	2	4	1	5	2	4	2	2			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr11:3697451T>C	uc001lyh.3	-	32	5762	c.5341A>G	c.(5341-5343)Atg>Gtg	p.M1781V	NUP98_uc001lyi.3_Missense_Mutation_p.M1707V|NUP98_uc001lyg.3_Missense_Mutation_p.M746V	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	1798					DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AGTTCGTCCATGGCATAGTCC	0.582			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML								11	124					0	0	1	0	0	C	3697451	T	C	3697451	3	2	279	1	0	0	0	0	1	0	0	0	10773	1464	51	3	65	3	NUP98	11	3697451	Missense_Mutation	SNP	T	TCGA-P5-A5EX-01A-12D-A289-08		3697451	131309065	17	12104											
CREBZF	58487	broad.mit.edu	37	chr11	85375242	85375244	+	In_Frame_Del	DEL	CTT	CTT	-																															tccagccccatcacgtactcCttcttcttcagtcgattaag																										TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr11:85375242_85375244delCTT	uc001pas.2	-	0	939_941	c.676_678delAAG	c.(676-678)aagdel	p.K226del	CREBZF_uc010rtd.1_Non-coding_Transcript|CREBZF_uc010rtc.1_Non-coding_Transcript	NM_001039618	NP_001034707	Q9NS37	ZHANG_HUMAN	Homo sapiens CREB/ATF bZIP transcription factor (CREBZF), transcript variant 1, mRNA.	226					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K226delK(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCACGTACTCCTTCTTCTTCAGT	0.665											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	254	---	---	---	---						-	85375244	CTT	-	85375242	7	5	279	1	0	1	0	1	0	0	0	0	3863	680	24	0	390	0	CREBZF	11	85375242	In_Frame_Del	DEL	CTT	TCGA-P5-A5EX-01A-12D-A289-08	81677791	85375242	49631274	18	12105											
FBXL3	26224	broad.mit.edu	37	chr13	77581815	77581815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caatgcgcaaatgttctaatCgaacatgtttttcagaagac	14	12	7	8	2	2	2	1	0	1	2	3	3	2	2	0	0	2	3	0	0	5	4			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr13:77581815C>T	uc001vkd.3	-	4	1123	c.752G>A	c.(751-753)cGa>cAa	p.R251Q		NM_012158	NP_036290	Q9UKT7	FBXL3_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 3 (FBXL3), mRNA.	251					SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|regulation of circadian rhythm|rhythmic process	SCF ubiquitin ligase complex|cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity	p.V250A(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		ATGTTCTAATCGAACATGTTT	0.418													23	42					0	0	1	0	0	T	77581815	C	T	77581815	3	4	279	1	0	0	0	0	1	0	0	0	5720	884	31	2	538	2	FBXL3	13	77581815	Missense_Mutation	SNP	C	TCGA-P5-A5EX-01A-12D-A289-08		77581815	37588063	19	12106											
KIAA1024	23251	broad.mit.edu	37	chr15	79749239	79749239	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aatgaggagccatttgtggtCcagtcctgtgtccagaaaag	11	10	12	8	0	0	2	0	1	0	1	3	3	3	3	4	2	1	0	4	2	3	1			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr15:79749239C>T	uc002bew.1	+	1	825	c.750C>T	c.(748-750)gtC>gtT	p.V250V	KIAA1024_uc010unk.1_Silent_p.V250V	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	250						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CATTTGTGGTCCAGTCCTGTG	0.473													27	76					0	0	1	0	0	T	79749239	C	T	79749239	2	4	279	1	0	0	0	0	0	0	0	1	8205	842	30	3		3	KIAA1024	15	79749239	Silent	SNP	C	TCGA-P5-A5EX-01A-12D-A289-08		79749239	22782153	20	12107											
MPRIP	23164	broad.mit.edu	37	chr17	17046885	17046886	+	Frame_Shift_Ins	INS	-	-	C																															acaggacttcaccaatgaagINScccccccagctcctctccca																										TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr17:17046885_17046886insC	uc002gqv.2	+	8	1140_1141	c.1051_1052insC	c.(1051-1053)gccfs	p.A351fs	MPRIP_uc002gqu.2_Frame_Shift_Ins_p.A351fs|MPRIP_uc002gqw.2_Intron	NM_015134	NP_055949	Q6WCQ1	MPRIP_HUMAN	Homo sapiens myosin phosphatase Rho interacting protein (MPRIP), transcript variant 1, mRNA.	351	Interaction with F-actin (By similarity).					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CACCAATGAAGCCCCCCCAGCT	0.649													18	52	---	---	---	---						C	17046886	-	C	17046885	7	5	279	1	0	1	1	0	0	0	0	0	9743	971	34	0	1085	0	MPRIP	17	17046885	Frame_Shift_Ins	INS	-	TCGA-P5-A5EX-01A-12D-A289-08		17046885	64148325	21	12108											
BZRAP1	9256	broad.mit.edu	37	chr17	56388978	56388978	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcctgtgacccggacaccgTtggatgtgccagcagcatcg	8	7	13	13	3	0	1	0	1	0	0	1	3	0	3	4	2	4	3	4	2	0	1			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr17:56388978T>C	uc002ivx.4	-	17	3906	c.3035A>G	c.(3034-3036)aAc>aGc	p.N1012S	BZRAP1_uc010dcs.3_Missense_Mutation_p.N952S|BZRAP1_uc010wnt.2_Missense_Mutation_p.N1012S	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1012	Fibronectin type-III 3.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGGACACCGTTGGATGTGCC	0.602													37	87					0	0	1	0	0	C	56388978	T	C	56388978	3	2	279	1	0	0	0	0	1	0	0	0	1577	1725	60	3	2594	3	BZRAP1	17	56388978	Missense_Mutation	SNP	T	TCGA-P5-A5EX-01A-12D-A289-08	39342093	56388978	24806232	22	12109											
ZNF24	7572	broad.mit.edu	37	chr18	32917323	32917323	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctccccagtatggattCtctgatgattaataagcccc	9	14	7	11	0	2	2	0	2	2	0	4	3	2	3	4	1	1	2	4	1	3	5			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr18:32917323C>A	uc002kyt.2	-	3	1137	c.980G>T	c.(979-981)aGa>aTa	p.R327I	ZNF24_uc002kys.2_Missense_Mutation_p.R327I	NM_006965	NP_008896	P17028	ZNF24_HUMAN	Homo sapiens zinc finger protein 24 (ZNF24), mRNA.	327					myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R327I(2)		endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						AGTATGGATTCTCTGATGATT	0.413													4	50					0.184627	0.189756	1	1	0	A	32917323	C	A	32917323	3	1	279	1	0	0	0	0	1	0	0	0	17789	913	32	5	130	5	ZNF24	18	32917323	Missense_Mutation	SNP	C	TCGA-P5-A5EX-01A-12D-A289-08		32917323	45159925	23	12110											
PRX	57716	broad.mit.edu	37	chr19	40901791	40901791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgagacctcagcacccGcctcgcctggcttgccacgt	5	8	9	19	3	1	1	1	1	0	1	3	2	2	1	6	1	2	2	6	1	0	1			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr19:40901791G>A	uc002onr.3	-	6	2737	c.2468C>T	c.(2467-2469)gCg>gTg	p.A823V	PRX_uc002onq.3_Missense_Mutation_p.A684V|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	823					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	p.A823V(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTCAGCACCCGCCTCGCCTGG	0.587													9	79					0	0	1	0	0	A	40901791	G	A	40901791	3	1	279	1	0	0	0	0	1	0	0	0	12642	1087	38	1	1921	1	PRX	19	40901791	Missense_Mutation	SNP	G	TCGA-P5-A5EX-01A-12D-A289-08		40901791	18227192	24	12111											
MYBPC2	4606	broad.mit.edu	37	chr19	50965235	50965235	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgacacctctcatagaccGcgtggtcgtggctgggtact	6	10	12	13	3	1	2	1	1	1	1	3	2	1	2	3	3	1	2	3	3	2	2			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr19:50965235G>T	uc002psf.2	+	25	3221	c.3170G>T	c.(3169-3171)cGc>cTc	p.R1057L		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	1057	Ig-like C2-type 7.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CTCATAGACCGCGTGGTCGTG	0.592											OREG0025636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2	0					1	1	1	1	0	T	50965235	G	T	50965235	3	4	279	1	0	0	0	0	1	0	0	0	10012	1087	38	5	3272	5	MYBPC2	19	50965235	Missense_Mutation	SNP	G	TCGA-P5-A5EX-01A-12D-A289-08	10063444	50965235	8163748	25	12112											
ZNF551	90233	broad.mit.edu	37	chr19	58197953	58197953	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacccagaaaactcacctcAgtgagattaagatgtgtgtc	13	9	8	11	0	2	3	2	1	0	3	3	4	2	3	3	0	1	0	3	0	3	1			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr19:58197953A>G	uc002qpw.4	+	2	485	c.262A>G	c.(262-264)Agt>Ggt	p.S88G	ZNF551_uc002qpv.4_Missense_Mutation_p.S31G|ZNF551_uc002qpx.3_Intron	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN	Homo sapiens zinc finger protein 551 (ZNF551), mRNA.	104	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AACTCACCTCAGTGAGATTAA	0.478													59	51					0	0	1	0	0	G	58197953	A	G	58197953	3	3	279	1	0	0	0	0	1	0	0	0	17980	188	7	4	272	4	ZNF551	19	58197953	Missense_Mutation	SNP	A	TCGA-P5-A5EX-01A-12D-A289-08	7232718	58197953	931030	26	12113											
MAGEB1	4112	broad.mit.edu	37	chrX	30269583	30269583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccagtgttagagccaggCgtcgcactactgccacgact	9	8	11	13	3	0	1	0	0	0	1	2	3	1	1	3	1	3	2	3	1	2	2			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chrX:30269583C>T	uc022buh.1	+	0	973	c.973C>T	c.(973-975)Cgt>Tgt	p.R325C	MAGEB1_uc004dcc.3_Missense_Mutation_p.R325C|MAGEB1_uc004dcd.3_Missense_Mutation_p.R325C|MAGEB1_uc004dce.3_Missense_Mutation_p.R325C	NM_177415	NP_803134	P43366	MAGB1_HUMAN	Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.	325								p.R325C(2)		NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TAGAGCCAGGCGTCGCACTAC	0.527													41	89					0	0	1	0	0	T	30269583	C	T	30269583	3	4	279	1	0	0	0	0	1	0	0	0	9172	768	27	1	975	1	MAGEB1	23	30269583	Missense_Mutation	SNP	C	TCGA-P5-A5EX-01A-12D-A289-08		30269583	125000977	27	12114											
KIF4A	24137	broad.mit.edu	37	chrX	69615591	69615591	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgccatctgaatgacctccTtgaagatagaaagatcctgg	13	9	9	10	1	1	6	0	3	1	3	3	6	3	6	4	1	0	0	4	1	4	2			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chrX:69615591T>G	uc004dyg.3	+	20	2446	c.2303T>G	c.(2302-2304)cTt>cGt	p.L768R	KIF4A_uc010nkw.3_Missense_Mutation_p.L768R	NM_012310	NP_036442	O95239	KIF4A_HUMAN	Homo sapiens kinesin family member 4A (KIF4A), mRNA.	768	Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						AATGACCTCCTTGAAGATAGA	0.438													41	55					0	0	1	0	0	G	69615591	T	G	69615591	3	3	279	1	0	0	0	0	1	0	0	0	8303	1609	56	5	2381	5	KIF4A	23	69615591	Missense_Mutation	SNP	T	TCGA-P5-A5EX-01A-12D-A289-08	39346008	69615591	85654969	28	12115											
BRWD3	254065	broad.mit.edu	37	chrX	79942476	79942476	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatcaggattacactttaaAgactgtcttctgcctcggca	10	12	8	11	1	3	1	1	0	2	1	4	2	3	2	1	2	2	2	1	2	3	4			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chrX:79942476A>G	uc004edt.3	-	34	4154	c.3891T>C	c.(3889-3891)tcT>tcC	p.S1297S	BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Silent_p.S1126S|BRWD3_uc004edq.3_Silent_p.S893S|BRWD3_uc010nmj.2_Silent_p.S893S|BRWD3_uc004edr.3_Silent_p.S967S|BRWD3_uc004eds.3_Silent_p.S893S|BRWD3_uc004edo.3_Silent_p.S893S|BRWD3_uc004edu.3_Silent_p.S967S|BRWD3_uc004edv.3_Silent_p.S893S|BRWD3_uc004edw.3_Silent_p.S893S|BRWD3_uc004edx.3_Silent_p.S893S|BRWD3_uc004edy.3_Silent_p.S893S|BRWD3_uc004edz.3_Silent_p.S967S|BRWD3_uc004eea.3_Silent_p.S967S|BRWD3_uc004eeb.3_Silent_p.S893S	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	1297										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TACACTTTAAAGACTGTCTTC	0.383													12	38					0	0	1	0	0	G	79942476	A	G	79942476	2	3	279	1	0	0	0	0	0	0	0	1	1526	59	3	4		4	BRWD3	23	79942476	Silent	SNP	A	TCGA-P5-A5EX-01A-12D-A289-08	10326885	79942476	75328084	29	12116											
ODZ1	10178	broad.mit.edu	37	chrX	123519691	123519691	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtataagactctgcgccctGtccccagatgcagggtctgt	7	11	11	12	1	2	2	0	0	2	2	3	2	3	2	3	1	2	2	3	1	2	2			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chrX:123519691G>C	uc010nqy.3	-	28	5976	c.5912C>G	c.(5911-5913)aCa>aGa	p.T1971R	ODZ1_uc011muj.2_Missense_Mutation_p.T1970R|ODZ1_uc004euj.3_Missense_Mutation_p.T1964R	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1964					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TCTGCGCCCTGTCCCCAGATG	0.483													62	115					0	0	1	0	0	C	123519691	G	C	123519691	3	2	279	1	0	0	0	0	1	0	0	0	10834	1377	48	5	2302	5	ODZ1	23	123519691	Missense_Mutation	SNP	G	TCGA-P5-A5EX-01A-12D-A289-08	43577215	123519691	31750869	30	12117											
BRAF	673	broad.mit.edu	37	chr7	140477790	140477791	+	Splice_Site	INS	-	-	CTGAGTACT																															agtaattcacacaagctcacINSctgagtactcctacttcatt																										TCGA-P5-A5EY-01A-11D-A27K-08	TCGA-P5-A5EY-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a5a3795-2b25-41ac-8a9c-36873f0a1a8d	5778bee3-f152-40e1-9e56-d72dc9591de0	g.chr7:140477790_140477791insCTGAGTACT	uc003vwc.4	-	12	1578	c.1517_splice	c.e12+1	p.R506_splice		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	506	Protein kinase.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CACAAGCTCACCTGAGTACTCC	0.386		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				10	44	---	---	---	---						CTGAGTACT	140477791	-	CTGAGTACT	140477790	8	5	280	1	0	1	1	0	0	0	1	0	1496	521	18	0	810	0	BRAF	7	140477790	Splice_Site	INS	-	TCGA-P5-A5EY-01A-11D-A27K-08		140477790	18660873	1	12118											
FPR3	2359	broad.mit.edu	37	chr19	52327322	52327322	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcatgttatgatagacatCaacctgtttgtcagtgtcta	10	16	8	7	0	4	2	3	1	1	1	4	2	4	2	1	0	1	3	1	0	4	5			TCGA-P5-A5EY-01A-11D-A27K-08	TCGA-P5-A5EY-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a5a3795-2b25-41ac-8a9c-36873f0a1a8d	5778bee3-f152-40e1-9e56-d72dc9591de0	g.chr19:52327322C>A	uc002pxt.1	+	1	505	c.321C>A	c.(319-321)atC>atA	p.I107I	FPR3_uc021uyq.1_Silent_p.I107I	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	107					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TGATAGACATCAACCTGTTTG	0.478													7	84					0.00198382	0.00198382	1	1	0	A	52327322	C	A	52327322	2	1	280	1	0	0	0	0	0	0	0	1	6040	816	29	5		5	FPR3	19	52327322	Silent	SNP	C	TCGA-P5-A5EY-01A-11D-A27K-08		52327322	6801661	2	12119											
PRAMEF10	343071	broad.mit.edu	37	chr1	12954492	12954492	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggggtagtacaggcagAggaatggagagtccaagtca	12	7	16	6	0	2	2	1	0	1	2	3	4	3	3	1	5	1	3	1	5	4	2			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr1:12954492A>G	uc001auo.3	-	2	864	c.791T>C	c.(790-792)cTc>cCc	p.L264P		NM_001039361	NP_001034450	O60809	PRA10_HUMAN	Homo sapiens PRAME family member 10 (PRAMEF10), mRNA.	264										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTACAGGCAGAGGAATGGAGA	0.463													68	112					0	0	1	0	0	G	12954492	A	G	12954492	3	3	281	1	0	0	0	0	1	0	0	0	12426	304	11	4	641	4	PRAMEF10	1	12954492	Missense_Mutation	SNP	A	TCGA-P5-A5EZ-01A-11D-A27K-08		12954492	236296129	1	12120											
DCAF8	50717	broad.mit.edu	37	chr1	160209956	160209956	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catcattaatggagtaatgaCcagtgtcctccatgctgtca	11	12	8	10	0	2	1	2	1	0	0	4	2	4	2	3	1	1	2	3	1	2	2			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr1:160209956C>A	uc001fvo.2	-	3	566	c.254G>T	c.(253-255)gGt>gTt	p.G85V	DCAF8_uc001fvn.2_Missense_Mutation_p.G85V|DCAF8_uc009wth.2_Missense_Mutation_p.G85V|DCAF8_uc010pjb.1_Missense_Mutation_p.G85V|DCAF8_uc010pjc.1_Missense_Mutation_p.G239V|DCAF8_uc001fvq.4_Missense_Mutation_p.G85V|DCAF8_uc001fvp.4_Missense_Mutation_p.G85V	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8 (DCAF8), transcript variant 1, mRNA.	85						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						GGAGTAATGACCAGTGTCCTC	0.537													8	21					0.000157383	0.000164378	1	1	0	A	160209956	C	A	160209956	3	1	281	1	0	0	0	0	1	0	0	0	4276	507	18	5	1583	5	DCAF8	1	160209956	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	147255464	160209956	89040665	2	12121											
CNTN2	6900	broad.mit.edu	37	chr1	205042816	205042816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggagaacatggcagtcCgcccagcaccacaccctggc	9	5	12	15	1	0	1	0	0	0	1	1	2	1	1	4	4	2	2	4	4	1	0			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr1:205042816C>T	uc001hbr.3	+	22	3315	c.3046C>T	c.(3046-3048)Cgc>Tgc	p.R1016C	CNTN2_uc001hbs.3_Missense_Mutation_p.R804C	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	1016					axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CATGGCAGTCCGCCCAGCACC	0.607													8	69					0	0	1	0	0	T	205042816	C	T	205042816	3	4	281	1	0	0	0	0	1	0	0	0	3641	652	23	2	3132	2	CNTN2	1	205042816	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	44832860	205042816	44207805	3	12122											
APOB	338	broad.mit.edu	37	chr2	21241933	21241933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctctggagctcataggttgCgctgacagaatactgctcaa	10	11	10	10	1	3	2	2	1	1	1	4	3	3	3	0	2	4	4	0	2	4	3	rs149357946	by1000genomes	TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:21241933C>T	uc002red.3	-	19	3180	c.3052G>A	c.(3052-3054)Gca>Aca	p.A1018T		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1018					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCATAGGTTGCGCTGACAGAA	0.453													41	77					0	0	1	0	0	T	21241933	C	T	21241933	3	4	281	1	0	0	0	0	1	0	0	0	785	768	27	1	10679	1	APOB	2	21241933	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08		21241933	221957440	4	12123											
OTOF	9381	broad.mit.edu	37	chr2	26688866	26688866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgtagttctccttgtcgcGgatgtcagtcttgcctagcc	5	14	11	11	2	3	0	1	0	2	0	5	2	3	1	3	1	2	2	3	1	2	5			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:26688866G>A	uc002rhk.3	-	36	4706	c.4579C>T	c.(4579-4581)Cgc>Tgc	p.R1527C	OTOF_uc010yla.2_Missense_Mutation_p.R257C|OTOF_uc002rhh.3_Missense_Mutation_p.R760C|OTOF_uc002rhi.3_Missense_Mutation_p.R837C|OTOF_uc002rhj.3_Missense_Mutation_p.R760C	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	1527	C2 4.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTTGTCGCGGATGTCAGTC	0.587													9	81					0	0	1	0	0	A	26688866	G	A	26688866	3	1	281	1	0	0	0	0	1	0	0	0	11303	1116	39	2	1639	2	OTOF	2	26688866	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	5446933	26688866	216510507	5	12124											
ABCG5	64240	broad.mit.edu	37	chr2	44050052	44050052	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtcctgactctcctggtcGctgacagctcgcagcacggg	5	8	12	16	4	1	2	0	2	1	0	5	2	2	2	3	2	2	4	3	2	0	0	rs139361486		TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:44050052G>A	uc002rtn.3	-	9	1487	c.1347C>T	c.(1345-1347)agC>agT	p.S449S	ABCG5_uc002rtm.3_Silent_p.S54S|ABCG5_uc002rto.3_Silent_p.S278S|ABCG5_uc002rtp.3_Silent_p.S54S	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA.	449	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCTCCTGGTCGCTGACAGCTC	0.567													15	23					0	0	1	0	0	A	44050052	G	A	44050052	2	1	281	1	0	0	0	0	0	0	0	1	71	1078	38	1		1	ABCG5	2	44050052	Silent	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	17361186	44050052	199149321	6	12125											
SLC1A4	6509	broad.mit.edu	37	chr2	65248050	65248050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttttcccaccagggacCggaccaccacggtggtgaat	8	9	10	14	2	1	1	0	1	1	0	2	3	2	3	5	4	0	0	5	4	1	3			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:65248050C>T	uc010yqa.2	+	7	1652	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W	SLC1A4_uc010ypz.2_Missense_Mutation_p.R159W|SLC1A4_uc002sdh.3_Missense_Mutation_p.R237W	NM_003038	NP_003029	P43007	SATT_HUMAN	Homo sapiens solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 (SLC1A4), transcript variant 1, mRNA.	457					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|chloride channel activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	CACCAGGGACCGGACCACCAC	0.552													38	101					0	0	1	0	0	T	65248050	C	T	65248050	3	4	281	1	0	0	0	0	1	0	0	0	14434	643	23	2	1399	2	SLC1A4	2	65248050	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	21197998	65248050	177951323	7	12126											
SLC35F5	80255	broad.mit.edu	37	chr2	114480706	114480706	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatacacatgtcagctattAtggacagaggtattgtaagg	13	11	11	6	0	1	1	1	0	0	1	1	2	1	2	0	3	2	4	0	3	5	6			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:114480706A>G	uc002tku.1	-	12	1730	c.1316T>C	c.(1315-1317)aTa>aCa	p.I439T	SLC35F5_uc002tkt.3_Non-coding_Transcript|MIR4782_uc021vmz.1_5'Flank	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	Homo sapiens solute carrier family 35, member F5 (SLC35F5), mRNA.	439					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						GTCAGCTATTATGGACAGAGG	0.308													36	89					0	0	1	0	0	G	114480706	A	G	114480706	3	3	281	1	0	0	0	0	1	0	0	0	14592	449	16	3	267	3	SLC35F5	2	114480706	Missense_Mutation	SNP	A	TCGA-P5-A5EZ-01A-11D-A27K-08	49232656	114480706	128718667	8	12127											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:209113113G>A	uc002vcs.3	-	3	640	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_uc002vct.3_Missense_Mutation_p.R132C|IDH1_uc002vcu.3_Missense_Mutation_p.R132C	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								18	53					0	0	1	0	0	A	209113113	G	A	209113113	3	1	281	1	0	0	0	0	1	0	0	0	7494	1058	37	2	878	2	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	94632407	209113113	34086260	9	12128											
CXCR2	3579	broad.mit.edu	37	chr2	219000218	219000218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatcatgctgttctgctacGgattcaccctgcgtacgctg	6	13	10	12	3	3	1	2	1	1	0	3	2	3	2	1	1	5	5	1	1	2	4			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:219000218G>A	uc002vgz.2	+	3	904	c.694G>A	c.(694-696)Gga>Aga	p.G232R	CXCR2_uc002vha.2_Missense_Mutation_p.G232R|CXCR2_uc002vhb.2_Missense_Mutation_p.G232R|CXCR2_uc021vwp.1_Missense_Mutation_p.G232R	NM_001168298	NP_001548	P25025	CXCR2_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA.	232					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GTTCTGCTACGGATTCACCCT	0.567													93	224					0	0	1	0	0	A	219000218	G	A	219000218	3	1	281	1	0	0	0	0	1	0	0	0	4091	1117	39	2	696	2	CXCR2	2	219000218	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	9887105	219000218	24199155	10	12129											
PLCD4	84812	broad.mit.edu	37	chr2	219500985	219500985	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggttttaatccatactggggGcagacactatgtttccgggt	8	13	12	8	1	0	1	0	0	0	1	2	1	2	1	2	4	1	3	2	4	3	5			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:219500985G>C	uc021vwx.1	+	14	2391	c.2052G>C	c.(2050-2052)ggG>ggC	p.G684G		NM_032726	NP_116115	Q9BRC7	PLCD4_HUMAN	Homo sapiens phospholipase C, delta 4 (PLCD4), mRNA.	684	C2.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CATACTGGGGGCAGACACTAT	0.418													74	161					0	0	1	0	0	C	219500985	G	C	219500985	2	2	281	1	0	0	0	0	0	0	0	1	12033	1190	42	5		5	PLCD4	2	219500985	Silent	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	500767	219500985	23698388	11	12130											
IRS1	3667	broad.mit.edu	37	chr2	227660233	227660233	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggttaggactgaggttcacCcgggtgaaggcgctcatgcc	7	8	15	11	3	2	2	2	2	0	0	2	3	2	3	2	5	1	3	2	5	2	2			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:227660233C>T	uc021vxn.1	-	0	3222	c.3222G>A	c.(3220-3222)cgG>cgA	p.R1074R	IRS1_uc002voh.4_Silent_p.R1074R	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	1074					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGAGGTTCACCCGGGTGAAGG	0.647													44	91					0	0	1	0	0	T	227660233	C	T	227660233	2	4	281	1	0	0	0	0	0	0	0	1	7840	610	22	3		3	IRS1	2	227660233	Silent	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	8159248	227660233	15539140	12	12131											
SENP2	59343	broad.mit.edu	37	chr3	185316806	185316806	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcctggaacaacatgctgAaactgggtgaggtggtcaaa	13	8	13	7	0	1	2	1	2	0	0	2	4	2	3	1	4	4	1	1	4	4	0			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr3:185316806A>G	uc003fpn.3	+	3	523	c.352A>G	c.(352-354)Aaa>Gaa	p.K118E	SENP2_uc011brv.2_Missense_Mutation_p.K108E|SENP2_uc011brw.2_Intron	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 2 (SENP2), mRNA.	118					Wnt receptor signaling pathway|mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	SUMO-specific protease activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CAACATGCTGAAACTGGGTGA	0.368													14	35					0	0	1	0	0	G	185316806	A	G	185316806	3	3	281	1	0	0	0	0	1	0	0	0	14047	247	9	3	366	3	SENP2	3	185316806	Missense_Mutation	SNP	A	TCGA-P5-A5EZ-01A-11D-A27K-08		185316806	12705624	13	12132											
TP63	8626	broad.mit.edu	37	chr3	189586404	189586404	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgacgctgctttgaggcccGgatctgtgcttgcccaggaa	6	9	13	13	3	1	1	0	1	1	0	1	4	1	3	3	3	3	3	3	3	1	2	rs121908841		TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr3:189586404G>T	uc003fry.2	+	7	1117	c.1028G>T	c.(1027-1029)cGg>cTg	p.R343L	TP63_uc003frx.2_Missense_Mutation_p.R343L|TP63_uc003frz.2_Missense_Mutation_p.R343L|TP63_uc010hzc.1_Missense_Mutation_p.R343L|TP63_uc003fsa.2_Missense_Mutation_p.R249L|TP63_uc003fsb.2_Missense_Mutation_p.R249L|TP63_uc003fsc.2_Missense_Mutation_p.R249L|TP63_uc003fsd.2_Missense_Mutation_p.R249L|TP63_uc021xir.1_Missense_Mutation_p.R249L|TP63_uc010hzd.1_Missense_Mutation_p.R164L|TP63_uc003fse.1_Missense_Mutation_p.R224L	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	343			R -> Q (in EEC3).|R -> W (in EEC3).		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|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R343Q(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TTTGAGGCCCGGATCTGTGCT	0.488										HNSCC(45;0.13)			7	72					0.0381472	0.0381472	1	1	0	T	189586404	G	T	189586404	3	4	281	1	0	0	0	0	1	0	0	0	16389	1116	39	5	1104	5	TP63	3	189586404	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	4269598	189586404	8436026	14	12133											
KLF3	51274	broad.mit.edu	37	chr4	38690343	38690343	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggagccagtggacctcacGgtgaacaagcggagttcacc	11	6	13	11	2	2	1	2	1	0	0	2	4	2	4	3	4	3	1	3	4	2	1			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr4:38690343G>A	uc003gth.4	+	2	527	c.195G>A	c.(193-195)acG>acA	p.T65T	KLF3_uc003gtg.2_Silent_p.T65T	NM_016531	NP_057615	P57682	KLF3_HUMAN	Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA.	65	Pro-rich.|Repressor domain.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						TGGACCTCACGGTGAACAAGC	0.567													9	78					0	0	1	0	0	A	38690343	G	A	38690343	2	1	281	1	0	0	0	0	0	0	0	1	8347	1103	39	2		2	KLF3	4	38690343	Silent	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08		38690343	152463933	15	12134											
PDZD2	23037	broad.mit.edu	37	chr5	32072325	32072325	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcccacgatgtccctggccCcttgtcagacttcatggtgg	5	11	11	14	1	2	1	2	0	0	1	3	2	3	1	4	3	1	0	4	3	0	2			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr5:32072325C>G	uc003jhl.3	+	16	3015	c.2627C>G	c.(2626-2628)cCc>cGc	p.P876R	PDZD2_uc003jhm.3_Missense_Mutation_p.P876R|PDZD2_uc011cnx.1_Missense_Mutation_p.P702R	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	876					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTCCCTGGCCCCTTGTCAGAC	0.547													12	125					0	0	1	0	0	G	32072325	C	G	32072325	3	3	281	1	0	0	0	0	1	0	0	0	11701	623	22	5	2689	5	PDZD2	5	32072325	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08		32072325	148842935	16	12135											
PCDHGC5	56097	broad.mit.edu	37	chr5	140762775	140762775	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcagagtgcgcggtgtctGgtaaactttaacatcctgat	9	12	11	9	2	2	2	1	1	1	1	3	2	3	2	1	2	3	2	1	2	3	3			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr5:140762775G>A	uc003lka.2	+	0	309	c.309G>A	c.(307-309)ctG>ctA	p.L103L	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003ljz.1_Silent_p.L103L	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.	103	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGTGTCTGGTAAACTTTA	0.483													9	86					0	0	1	0	0	A	140762775	G	A	140762775	2	1	281	1	0	0	0	0	0	0	0	1	11571	1335	47	3		3	PCDHGC5	5	140762775	Silent	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	108690450	140762775	40152485	17	12136											
GUCA1A	2978	broad.mit.edu	37	chr6	42146546	42146546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcttccctcccaggccattCgcgccattaacccctgcagc	6	10	6	19	2	1	0	0	0	1	0	4	0	3	0	6	1	3	1	6	1	1	4			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr6:42146546C>T	uc003orx.3	+	4	1003	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	GUCA1A_uc011duo.2_Non-coding_Transcript|GUCA1A_uc010jxt.3_Missense_Mutation_p.R120C	NM_000409	NP_000400	P43080	GUC1A_HUMAN	Homo sapiens guanylate cyclase activator 1A (retina) (GUCA1A), mRNA.	120	EF-hand 3.				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCAGGCCATTCGCGCCATTAA	0.582													34	359					0	0	1	0	0	T	42146546	C	T	42146546	3	4	281	1	0	0	0	0	1	0	0	0	6888	884	31	2	368	2	GUCA1A	6	42146546	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08		42146546	128968521	18	12137											
SLC17A5	26503	broad.mit.edu	37	chr6	74325149	74325149	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taaccaagagcctaaataagGcaatgaagataaaaacccat	21	6	6	8	0	0	3	0	1	0	2	0	3	0	3	3	1	3	1	3	1	10	4			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr6:74325149G>A	uc003phn.4	-	7	1128	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S	SLC17A5_uc010kax.3_5'UTR|SLC17A5_uc010kay.3_Non-coding_Transcript|SLC17A5_uc011dyo.1_Missense_Mutation_p.P203S	NM_012434	NP_036566	Q9NRA2	S17A5_HUMAN	Homo sapiens solute carrier family 17 (anion/sugar transporter), member 5 (SLC17A5), mRNA.	334			P -> R (in ISSD).		anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCTAAATAAGGCAATGAAGAT	0.353													5	36					0	0	1	0	0	A	74325149	G	A	74325149	3	1	281	1	0	0	0	0	1	0	0	0	14420	1203	42	3	503	3	SLC17A5	6	74325149	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	32178603	74325149	96789918	19	12138											
ZDHHC14	79683	broad.mit.edu	37	chr6	158066844	158066844	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggattccacacctacttgatCagctccaaccagacaacaaa	15	7	5	14	0	1	2	1	1	0	1	3	3	3	3	4	1	4	1	4	1	4	3			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr6:158066844C>T	uc003qqt.3	+	5	1325	c.828C>T	c.(826-828)atC>atT	p.I276I	ZDHHC14_uc003qqs.3_Silent_p.I276I|ZDHHC14_uc010kjn.3_5'UTR	NM_024630	NP_078906	Q8IZN3	ZDH14_HUMAN	Homo sapiens zinc finger, DHHC-type containing 14 (ZDHHC14), transcript variant 1, mRNA.	276						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CCTACTTGATCAGCTCCAACC	0.527													6	24					0	0	1	0	0	T	158066844	C	T	158066844	2	4	281	1	0	0	0	0	0	0	0	1	17601	816	29	3		3	ZDHHC14	6	158066844	Silent	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	83741695	158066844	13048223	20	12139											
DNAH11	8701	broad.mit.edu	37	chr7	21640731	21640731	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcctttcaaagtgagctTgttaaccataattaagaaat	16	12	7	6	0	1	2	1	1	0	1	1	3	1	2	2	0	3	2	2	0	6	5			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr7:21640731T>C	uc003svc.3	+	16	3390	c.3359T>C	c.(3358-3360)tTg>tCg	p.L1120S		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1120	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAAGTGAGCTTGTTAACCATA	0.353									Kartagener syndrome				13	36					0	0	1	0	0	C	21640731	T	C	21640731	3	2	281	1	0	0	0	0	1	0	0	0	4599	1821	63	3	3425	3	DNAH11	7	21640731	Missense_Mutation	SNP	T	TCGA-P5-A5EZ-01A-11D-A27K-08		21640731	137497932	21	12140											
AUTS2	26053	broad.mit.edu	37	chr7	70227916	70227916	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggatgcagggccgattgTccccaagatatcgggtctag	9	8	13	11	2	1	1	0	0	1	1	3	3	2	2	4	3	1	1	4	3	3	3			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr7:70227916T>C	uc003tvw.4	+	6	1538	c.803T>C	c.(802-804)gTc>gCc	p.V268A	AUTS2_uc003tvx.4_Missense_Mutation_p.V268A	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	268										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GGGCCGATTGTCCCCAAGATA	0.537													18	282					0	0	1	0	0	C	70227916	T	C	70227916	3	2	281	1	0	0	0	0	1	0	0	0	1225	1667	58	3	974	3	AUTS2	7	70227916	Missense_Mutation	SNP	T	TCGA-P5-A5EZ-01A-11D-A27K-08	48587185	70227916	88910747	22	12141											
ESRP1	54845	broad.mit.edu	37	chr8	95680362	95680362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggtaggccaacaggggacGcttttgtcctctttgcctgt	6	13	12	10	1	1	0	0	0	1	0	2	1	2	1	3	4	2	2	3	4	2	4			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr8:95680362G>A	uc003ygq.4	+	9	1300	c.1117G>A	c.(1117-1119)Gct>Act	p.A373T	ESRP1_uc003ygr.4_Missense_Mutation_p.A373T|ESRP1_uc003ygs.4_Missense_Mutation_p.A373T|ESRP1_uc003ygt.4_Missense_Mutation_p.A373T|ESRP1_uc003ygu.4_Missense_Mutation_p.A373T|ESRP1_uc003ygv.3_Missense_Mutation_p.A213T|ESRP1_uc003ygw.3_Missense_Mutation_p.A213T	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	373	RRM 2.				RNA splicing|mRNA processing|regulation of RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AACAGGGGACGCTTTTGTCCT	0.483													7	90					0	0	1	0	0	A	95680362	G	A	95680362	3	1	281	1	0	0	0	0	1	0	0	0	5258	1087	38	1	1155	1	ESRP1	8	95680362	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08		95680362	50683660	23	12142											
ELAVL2	1993	broad.mit.edu	37	chr9	23701564	23701564	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcttcttctgcctcaattcGcttgtcaaatcgaataaacc	11	13	5	12	2	4	0	2	0	2	0	6	1	4	0	2	0	3	2	2	0	5	5			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr9:23701564G>A	uc003zpu.3	-	4	801	c.526C>T	c.(526-528)Cga>Tga	p.R176*	ELAVL2_uc003zps.3_Nonsense_Mutation_p.R176*|ELAVL2_uc003zpt.3_Nonsense_Mutation_p.R176*|ELAVL2_uc003zpv.3_Nonsense_Mutation_p.R176*|ELAVL2_uc003zpw.3_Nonsense_Mutation_p.R176*	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.	176	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	p.R176*(2)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GCCTCAATTCGCTTGTCAAAT	0.443													10	127					0	0	1	0	0	A	23701564	G	A	23701564	4	1	281	1	0	0	0	0	0	1	0	0	5050	1095	38	1	565	1	ELAVL2	9	23701564	Nonsense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08		23701564	117511867	24	12143											
FBXW4	6468	broad.mit.edu	37	chr10	103433381	103433381	+	Frame_Shift_Del	DEL	C	C	-																															gtaggccaggatgaaattagCctgggatatgtacagagaat																										TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr10:103433381delC	uc001kto.3	-	2	752	c.406delG	c.(406-408)gctfs	p.A136fs		NM_022039	NP_071322	P57775	FBXW4_HUMAN	Homo sapiens F-box and WD repeat domain containing 4 (FBXW4), mRNA.	136					Wnt receptor signaling pathway|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		ATGAAATTAGCCTGGGATATG	0.458													10	80	---	---	---	---						-	103433381	C	-	103433381	7	5	281	1	0	1	0	1	0	0	0	0	5767	739	26	0	860	0	FBXW4	10	103433381	Frame_Shift_Del	DEL	C	TCGA-P5-A5EZ-01A-11D-A27K-08		103433381	32101366	25	12144											
TTC17	55761	broad.mit.edu	37	chr11	43515339	43515339	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaggaagaatttgaaaaagCactggtgtggtatgaatcca	16	9	11	5	0	0	3	0	2	0	1	1	4	1	4	1	3	1	2	1	3	6	2			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr11:43515339C>T	uc001mxi.3	+	23	3381	c.3311C>T	c.(3310-3312)gCa>gTa	p.A1104V	TTC17_uc010rfj.2_Missense_Mutation_p.A1104V|TTC17_uc001mxl.3_Missense_Mutation_p.A160V	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.	1104							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TTTGAAAAAGCACTGGTGTGG	0.463													62	172					0	0	1	0	0	T	43515339	C	T	43515339	3	4	281	1	0	0	0	0	1	0	0	0	16681	710	25	3	3405	3	TTC17	11	43515339	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08		43515339	91491177	26	12145											
TTC12	54970	broad.mit.edu	37	chr11	113211422	113211422	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcagaatgcacaatggatTtagtatcatcagtgacaacg	15	11	8	7	1	3	2	3	1	0	1	3	3	3	3	0	1	2	2	0	1	5	4			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr11:113211422T>A	uc001pnv.3	+	10	986	c.881T>A	c.(880-882)tTt>tAt	p.F294Y	TTC12_uc001pnu.3_Missense_Mutation_p.F288Y|TTC12_uc001pnw.3_Non-coding_Transcript|TTC12_uc001pnx.3_Missense_Mutation_p.F138Y	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	Homo sapiens tetratricopeptide repeat domain 12 (TTC12), mRNA.	288							binding	p.N294N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		CACAATGGATTTAGTATCATC	0.438													7	63					0	0	1	0	0	A	113211422	T	A	113211422	3	1	281	1	0	0	0	0	1	0	0	0	16676	1841	64	5	901	5	TTC12	11	113211422	Missense_Mutation	SNP	T	TCGA-P5-A5EZ-01A-11D-A27K-08	69696083	113211422	21795094	27	12146											
WNK1	65125	broad.mit.edu	37	chr12	993858	993859	+	Frame_Shift_Del	DEL	CT	CT	-																															cctggaatgaacttgtctcaCtctgcatcatcccttagtct																										TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr12:993858_993859delCT	uc021qss.1	+	18	5311_5312	c.4668_4669delCT	c.(4666-4671)cactctfs	p.H1556fs	WNK1_uc001qio.4_Frame_Shift_Del_p.H1296fs|WNK1_uc021qst.1_Frame_Shift_Del_p.H1548fs|WNK1_uc001qip.4_Frame_Shift_Del_p.H1049fs|WNK1_uc001qir.4_Frame_Shift_Del_p.H469fs	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	1296					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACTTGTCTCACTCTGCATCATC	0.431													11	151	---	---	---	---						-	993859	CT	-	993858	7	5	281	1	0	1	0	1	0	0	0	0	17374	564	20	0	5464	0	WNK1	12	993858	Frame_Shift_Del	DEL	CT	TCGA-P5-A5EZ-01A-11D-A27K-08		993858	132858037	28	12147											
NCAPD2	9918	broad.mit.edu	37	chr12	6635636	6635636	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgtccacccagacccactCtggatcccattcaaagaggt	10	10	7	14	0	2	2	1	0	1	2	4	3	4	3	4	2	0	0	4	2	1	2			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr12:6635636C>G	uc001qoo.2	+	20	2635	c.2589C>G	c.(2587-2589)ctC>ctG	p.L863L	NCAPD2_uc009zen.1_Silent_p.L735L|NCAPD2_uc010sfd.1_Silent_p.L818L	NM_014865	NP_055680	Q15021	CND1_HUMAN	Homo sapiens non-SMC condensin I complex, subunit D2 (NCAPD2), mRNA.	863					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CAGACCCACTCTGGATCCCAT	0.552													9	121					0	0	1	0	0	G	6635636	C	G	6635636	2	3	281	1	0	0	0	0	0	0	0	1	10205	900	32	5		5	NCAPD2	12	6635636	Silent	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	5641778	6635636	127216259	29	12148											
RCBTB1	55213	broad.mit.edu	37	chr13	50134077	50134077	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccatcagctgccagagccaTtgaatgatgtgagccacaag	12	8	10	11	0	1	4	1	3	0	1	2	4	2	4	4	0	4	1	4	0	2	1	rs147650879	byFrequency	TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr13:50134077T>C	uc001vde.1	-	4	682	c.421A>G	c.(421-423)Atg>Gtg	p.M141V		NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 (RCBTB1), mRNA.	141					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		GCCAGAGCCATTGAATGATGT	0.413													53	126					0	0	1	0	0	C	50134077	T	C	50134077	3	2	281	1	0	0	0	0	1	0	0	0	13171	1493	52	3	1210	3	RCBTB1	13	50134077	Missense_Mutation	SNP	T	TCGA-P5-A5EZ-01A-11D-A27K-08		50134077	65035801	30	12149											
TEP1	7011	broad.mit.edu	37	chr14	20854643	20854643	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcagtgacgccccagcGgaggtcgattccgtgaaggc	7	7	13	14	4	1	2	1	2	0	0	4	4	3	3	4	3	1	0	4	3	1	1			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr14:20854643G>A	uc001vxe.3	-	18	2864	c.2824C>T	c.(2824-2826)Cgc>Tgc	p.R942C	TEP1_uc010ahk.3_Missense_Mutation_p.R292C|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.R834C	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	942					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ACGCCCCAGCGGAGGTCGATT	0.657													7	43					0	0	1	0	0	A	20854643	G	A	20854643	3	1	281	1	0	0	0	0	1	0	0	0	15756	1116	39	2	5207	2	TEP1	14	20854643	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08		20854643	86494897	31	12150											
PRMT5	10419	broad.mit.edu	37	chr14	23395475	23395475	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccagcgatcaatgacatgaTtagatgggaggtcagcccca	12	7	12	10	1	2	3	2	2	0	1	2	5	2	4	3	2	2	0	3	2	2	1			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr14:23395475T>C	uc001whm.1	-	6	735	c.644A>G	c.(643-645)aAt>aGt	p.N215S	PRMT5_uc001whl.1_Missense_Mutation_p.N198S|PRMT5_uc010tnf.1_Missense_Mutation_p.N109S|PRMT5_uc010tnh.1_Missense_Mutation_p.N171S|PRMT5_uc010tng.1_Missense_Mutation_p.N154S|PRMT5_uc001whn.1_Intron	NM_006109	NP_006100	O14744	ANM5_HUMAN	Homo sapiens protein arginine methyltransferase 5 (PRMT5), transcript variant 1, mRNA.	215					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		AATGACATGATTAGATGGGAG	0.473													10	91					0	0	1	0	0	C	23395475	T	C	23395475	3	2	281	1	0	0	0	0	1	0	0	0	12539	1493	52	3	1313	3	PRMT5	14	23395475	Missense_Mutation	SNP	T	TCGA-P5-A5EZ-01A-11D-A27K-08	2540832	23395475	83954065	32	12151											
SERPINA3	12	broad.mit.edu	37	chr14	95085593	95085593	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaaggttctacttgagcaaGaaaaagtgggtaatggtgcc	13	10	12	6	0	2	2	1	1	1	1	2	2	2	2	1	3	3	3	1	3	6	4			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr14:95085593G>C	uc001ydp.3	+	2	864	c.705G>C	c.(703-705)aaG>aaC	p.K235N	SERPINA3_uc001ydo.4_Missense_Mutation_p.K260N|SERPINA3_uc001ydr.3_Intron|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Missense_Mutation_p.K235N|SERPINA3_uc001yds.3_Missense_Mutation_p.K235N	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	235					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ACTTGAGCAAGAAAAAGTGGG	0.507													38	38					0	0	1	0	0	C	95085593	G	C	95085593	3	2	281	1	0	0	0	0	1	0	0	0	14090	933	33	5	711	5	SERPINA3	14	95085593	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	71690118	95085593	12263947	33	12152											
CDH13	1012	broad.mit.edu	37	chr16	83251008	83251009	+	Frame_Shift_Del	DEL	AT	AT	-																															gctcactggaaagggagtggAtcaagagcctaaaggaattt																										TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr16:83251008_83251009delAT	uc010vns.2	+	5	947_948	c.683_684delAT	c.(682-684)gatfs	p.D228fs	CDH13_uc002fgx.3_Frame_Shift_Del_p.D181fs|CDH13_uc010vnt.2_5'UTR|CDH13_uc010vnu.2_Frame_Shift_Del_p.D142fs	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	181	Cadherin 1.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AAGGGAGTGGATCAAGAGCCTA	0.455													8	125	---	---	---	---						-	83251009	AT	-	83251008	7	5	281	1	0	1	0	1	0	0	0	0	3099	333	12	0	560	0	CDH13	16	83251008	Frame_Shift_Del	DEL	AT	TCGA-P5-A5EZ-01A-11D-A27K-08		83251008	7103745	34	12153											
TP53	7157	broad.mit.edu	37	chr17	7578213	7578213	+	Frame_Shift_Del	DEL	A	A	-																															ggcaccaccacactatgtcgAaaagtgtttctgtcatccaa																										TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr17:7578213delA	uc002gim.2	-	5	830	c.636delT	c.(634-636)tttfs	p.F212fs	TP53_uc002gig.1_Frame_Shift_Del_p.F212fs|TP53_uc002gih.3_Frame_Shift_Del_p.F212fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.F80fs|TP53_uc010cnf.1_Frame_Shift_Del_p.F80fs|TP53_uc002gii.1_Frame_Shift_Del_p.F80fs|TP53_uc010cni.1_Frame_Shift_Del_p.F212fs|TP53_uc010cnh.1_Frame_Shift_Del_p.F212fs|TP53_uc002gij.2_Frame_Shift_Del_p.F212fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.F119fs|TP53_uc002gio.2_Frame_Shift_Del_p.F80fs|TP53_uc010vug.2_Frame_Shift_Del_p.F173fs|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	212	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.F212fs*3(17)|p.T211T(9)|p.0?(8)|p.T211I(7)|p.?(5)|p.F212L(5)|p.T211N(4)|p.T211fs*4(3)|p.R213fs*35(3)|p.D208_V216delDRNTFRHSV(2)|p.D207_R213delDDRNTFR(2)|p.T211fs*36(2)|p.T211_S215delTFRHS(2)|p.T211fs*5(2)|p.F212S(2)|p.F212I(2)|p.R209_R213delRNTFR(2)|p.T211A(2)|p.T211fs*28(2)|p.D207_V216del10(2)|p.K164_P219del(1)|p.F80fs*3(1)|p.T211_F212insX(1)|p.F212fs*4(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.F119fs*3(1)|p.R120fs*35(1)|p.F212Y(1)|p.T211P(1)|p.T211S(1)|p.R209fs*6(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)		CACTATGTCGAAAAGTGTTTC	0.532		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)			45	32	---	---	---	---						-	7578213	A	-	7578213	7	5	281	1	0	1	0	1	0	0	0	0	16378	243	9	0	658	0	TP53	17	7578213	Frame_Shift_Del	DEL	A	TCGA-P5-A5EZ-01A-11D-A27K-08		7578213	73616997	35	12154											
CCR7	1236	broad.mit.edu	37	chr17	38711204	38711204	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggccaggctgtaggtgacGtcgtaggcgatgttgagttg	7	10	17	7	3	0	2	0	2	0	0	1	3	0	2	1	4	0	5	1	4	2	4			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr17:38711204G>A	uc002huw.3	-	2	1002	c.927C>T	c.(925-927)gaC>gaT	p.D309D		NM_001838	NP_001829	P32248	CCR7_HUMAN	Homo sapiens chemokine (C-C motif) receptor 7 (CCR7), mRNA.	309					T cell costimulation|cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				TGTAGGTGACGTCGTAGGCGA	0.567													8	89					0	0	1	0	0	A	38711204	G	A	38711204	2	1	281	1	0	0	0	0	0	0	0	1	2946	1136	40	1		1	CCR7	17	38711204	Silent	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	31132991	38711204	42484006	36	12155											
KRT37	8688	broad.mit.edu	37	chr17	39579137	39579137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaggagcttctgcgtccCgcacttgtccgcctccacca	6	9	8	18	3	1	0	0	0	1	0	5	1	5	1	6	1	2	2	6	1	0	2			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr17:39579137C>T	uc002hwp.1	-	2	672	c.625G>A	c.(625-627)Ggg>Agg	p.G209R		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	209	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				TTCTGCGTCCCGCACTTGTCC	0.627													29	128					0	0	1	0	0	T	39579137	C	T	39579137	3	4	281	1	0	0	0	0	1	0	0	0	8474	652	23	2	744	2	KRT37	17	39579137	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	867933	39579137	41616073	37	12156											
MUC16	94025	broad.mit.edu	37	chr19	9075050	9075050	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaagagagtggtcttctcTgagtatgtaaatctctgagt	11	14	10	6	0	3	3	0	2	3	1	5	4	3	3	0	1	0	2	0	1	5	4			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr19:9075050T>A	uc002mkp.3	-	2	12600	c.12396A>T	c.(12394-12396)tcA>tcT	p.S4132S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4134	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGTCTTCTCTGAGTATGTAA	0.517													10	111					0	0	1	0	0	A	9075050	T	A	9075050	2	1	281	1	0	0	0	0	0	0	0	1	9973	1567	55	5		5	MUC16	19	9075050	Silent	SNP	T	TCGA-P5-A5EZ-01A-11D-A27K-08		9075050	50053933	38	12157											
HCK	3055	broad.mit.edu	37	chr20	30659555	30659555	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcccacactgtcctgtgtaCgtgccggatcccacatccac	8	8	8	17	2	0	0	0	0	0	0	3	1	3	1	5	1	3	1	5	1	1	1	rs112610391		TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr20:30659555C>T	uc002wxh.3	+	1	390	c.153C>T	c.(151-153)taC>taT	p.Y51Y	HCK_uc010gdy.3_Silent_p.Y31Y|HCK_uc021wbv.1_Silent_p.Y30Y|HCK_uc002wxi.3_Silent_p.Y30Y	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	51					interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTCCTGTGTACGTGCCGGATC	0.582													9	74					0	0	1	0	0	T	30659555	C	T	30659555	2	4	281	1	0	0	0	0	0	0	0	1	6994	547	19	1		1	HCK	20	30659555	Silent	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08		30659555	32365965	39	12158											
HIRA	7290	broad.mit.edu	37	chr22	19365445	19365445	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactggcagccaccacaggCtctgtgcaaggcttcgaggc	8	6	13	14	1	1	0	0	0	1	0	2	1	1	0	2	4	2	5	2	4	1	1			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr22:19365445C>G	uc002zpf.1	-	13	1780	c.1560G>C	c.(1558-1560)gaG>gaC	p.E520D	HIRA_uc011agx.1_Missense_Mutation_p.E386D|HIRA_uc010grn.1_Missense_Mutation_p.E520D|HIRA_uc010gro.2_Missense_Mutation_p.E476D|HIRA_uc010grp.3_Non-coding_Transcript	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	520	Interaction with CCNA1.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CCACCACAGGCTCTGTGCAAG	0.582													82	154					0	0	1	0	0	G	19365445	C	G	19365445	3	3	281	1	0	0	0	0	1	0	0	0	7120	796	28	5	1541	5	HIRA	22	19365445	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08		19365445	31939121	40	12159											
LIMK2	3985	broad.mit.edu	37	chr22	31663038	31663038	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgatgtgatgaggagacccaGaaaacttttctgactgaggt	12	10	12	7	1	1	6	0	4	1	2	1	8	1	6	1	2	1	0	1	2	2	2			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr22:31663038G>A	uc003akh.3	+	8	1255	c.1110G>A	c.(1108-1110)caG>caA	p.Q370Q	LIMK2_uc003aki.3_Silent_p.Q124Q|LIMK2_uc003akj.3_Silent_p.Q349Q|LIMK2_uc003akk.3_Silent_p.Q349Q|LIMK2_uc011aln.2_Silent_p.Q287Q	NM_005569	NP_005560	P53671	LIMK2_HUMAN	Homo sapiens LIM domain kinase 2 (LIMK2), transcript variant 2a, mRNA.	370	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						AGGAGACCCAGAAAACTTTTC	0.473													3	12					0	0	1	0	0	A	31663038	G	A	31663038	2	1	281	1	0	0	0	0	0	0	0	1	8802	933	33	3		3	LIMK2	22	31663038	Silent	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	12297593	31663038	19641528	41	12160											
HRNR	388697	broad.mit.edu	37	chr1	152191766	152191766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccctgaactggacccatgtCggacacggctaggagagtgg	9	6	15	11	2	0	2	0	1	0	1	1	5	0	4	2	5	1	1	2	5	2	1			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr1:152191766C>T	uc001ezt.1	-	2	2415	c.2339G>A	c.(2338-2340)cGa>cAa	p.R780Q		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	780					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGACCCATGTCGGACACGGCT	0.602													35	79					0	0	1	0	0	T	152191766	C	T	152191766	3	4	282	1	0	0	0	0	1	0	0	0	7359	884	31	2	6217	2	HRNR	1	152191766	Missense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08		152191766	97058855	1	12161											
MUC1	4582	broad.mit.edu	37	chr1	155161799	155161799	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatcgtgggctggcggggTggtggagcccagggctggcc	4	6	21	10	2	0	0	0	0	0	0	1	2	0	1	2	8	1	2	2	8	0	0			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr1:155161799T>G	uc021pap.1	-	1	433	c.361A>C	c.(361-363)Acc>Ccc	p.T121P	MUC1_uc001fhz.3_5'Flank|MUC1_uc001fhy.3_5'Flank|MUC1_uc010pfb.2_Intron|MUC1_uc010pfh.2_Intron|MUC1_uc010pff.2_Intron|MUC1_uc010pfi.2_Intron|MUC1_uc010pfj.2_Intron|MUC1_uc010pfk.2_Intron|MUC1_uc010pfl.2_Intron|MUC1_uc010pfc.2_Intron|MUC1_uc009wph.3_Intron|MUC1_uc010pfe.2_Intron|MUC1_uc009wpi.3_Intron|MUC1_uc010pfg.2_Intron|MUC1_uc010pfd.2_Intron|MUC1_uc009wpy.3_Intron|MUC1_uc009wpu.3_Intron|MUC1_uc010pfm.2_Intron|MUC1_uc001fiq.3_Intron|MUC1_uc009wqa.3_Intron|MUC1_uc010pfn.2_Intron|MUC1_uc009wpn.3_Intron|MUC1_uc010pfo.2_Intron|MUC1_uc009wpw.3_Intron|MUC1_uc001fim.3_Intron|MUC1_uc001fil.3_Intron|MUC1_uc010pfp.2_Intron|MUC1_uc001fij.3_Intron|MUC1_uc009wqc.3_Intron|MUC1_uc009wqd.3_Intron|MUC1_uc001fia.3_Intron|MUC1_uc009wqb.3_Intron|MUC1_uc009wpx.3_Intron|MUC1_uc010pfq.2_Intron|MUC1_uc001fid.3_Intron|MUC1_uc001fit.3_Intron|MUC1_uc009wpz.3_Intron|MUC1_uc001fii.3_Intron|MUC1_uc001fik.3_Intron|MUC1_uc009wpo.3_Intron|MUC1_uc010pfr.2_Intron|MUC1_uc001fih.3_Intron|MUC1_uc001fio.3_Intron|MUC1_uc009wqe.3_Intron|MUC1_uc009wpl.3_Intron|MUC1_uc009wpp.3_Intron|MUC1_uc009wpm.3_Intron|MUC1_uc009wpk.3_Intron|MUC1_uc010pfs.2_Intron|MUC1_uc001fip.3_Intron|MUC1_uc021paq.1_Missense_Mutation_p.T112P|MUC1_uc009wqg.3_Intron|MUC1_uc009wqf.3_Intron|MUC1_uc001fic.3_Intron|MUC1_uc009wps.3_Intron|MUC1_uc001fie.3_Intron|MUC1_uc009wpt.3_Intron|MUC1_uc009wpq.3_Intron|MUC1_uc009wpr.3_Intron|MUC1_uc001fig.3_Intron|MUC1_uc001fif.3_Intron|MUC1_uc001fin.3_Intron|MUC1_uc009wpj.3_Intron|MUC1_uc009wpv.3_Intron|MUC1_uc001fib.3_Intron|MUC1_uc001fis.2_Intron|MUC1_uc001fiv.2_Missense_Mutation_p.T121P|MUC1_uc001fiw.2_Missense_Mutation_p.T112P|DM075093_uc021par.1_5'Flank	NM_001204286	NP_001191215	P15941	MUC1_HUMAN	Homo sapiens mucin 1, cell surface associated (MUC1), transcript variant 10, mRNA.	892						apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGGCGGGGTGGTGGAGCCC	0.711			T	IGH@	B-NHL								11	25					0	0	1	0	0	G	155161799	T	G	155161799	3	3	282	1	0	0	0	0	1	0	0	0	9970	1711	59	5		5	MUC1	1	155161799	Missense_Mutation	SNP	T	TCGA-P5-A5F0-01A-11D-A289-08	2970033	155161799	94088822	2	12162											
SEC16B	89866	broad.mit.edu	37	chr1	177936856	177936856	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgataaccaccttcgtaataGtcaactccagacacaggctg	13	8	7	13	2	1	1	1	0	0	1	3	2	2	1	3	1	2	2	3	1	4	4			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr1:177936856G>A	uc001glj.1	-	6	1127	c.261C>T	c.(259-261)gaC>gaT	p.D87D	SEC16B_uc001glk.1_5'UTR|SEC16B_uc001gli.1_Silent_p.D87D|SEC16B_uc009wwz.1_5'UTR|SEC16B_uc001gll.4_Silent_p.D87D	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	87	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CTTCGTAATAGTCAACTCCAG	0.517													7	64					0	0	1	0	0	A	177936856	G	A	177936856	2	1	282	1	0	0	0	0	0	0	0	1	13987	1020	36	3		3	SEC16B	1	177936856	Silent	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	22775057	177936856	71313765	3	12163											
NLRP3	114548	broad.mit.edu	37	chr1	247588165	247588165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggggctctgctctttggctGcagatggaatctggaaccag	7	10	15	9	0	3	1	0	0	3	1	3	3	3	3	1	5	3	4	1	5	2	1			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr1:247588165G>A	uc001icr.3	+	4	1558	c.1420G>A	c.(1420-1422)Gca>Aca	p.A474T	NLRP3_uc001ics.3_Missense_Mutation_p.A474T|NLRP3_uc001icu.3_Missense_Mutation_p.A474T|NLRP3_uc001icw.3_Missense_Mutation_p.A474T|NLRP3_uc001icv.3_Missense_Mutation_p.A474T|NLRP3_uc010pyw.2_Missense_Mutation_p.A472T|NLRP3_uc001ict.1_Missense_Mutation_p.A472T	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	474	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.A473T(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTCTTTGGCTGCAGATGGAAT	0.582													11	29					0	0	1	0	0	A	247588165	G	A	247588165	3	1	282	1	0	0	0	0	1	0	0	0	10478	1319	46	3	1430	3	NLRP3	1	247588165	Missense_Mutation	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	69651309	247588165	1662456	4	12164											
HADHA	3030	broad.mit.edu	37	chr2	26426943	26426943	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcttaccctttgaacactTgttgctgtcctcggtctagc	6	14	9	12	1	1	1	0	1	1	0	3	1	2	1	2	2	4	3	2	2	3	5			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr2:26426943T>A	uc002rgy.3	-	11	1338	c.1208A>T	c.(1207-1209)cAa>cTa	p.Q403L	HADHA_uc010yks.2_Missense_Mutation_p.Q316L	NM_000182	NP_000173	P40939	ECHA_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit (HADHA), nuclear gene encoding mitochondrial protein, mRNA.	403					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	TTTGAACACTTGTTGCTGTCC	0.483													159	313					0	0	1	0	0	A	26426943	T	A	26426943	3	1	282	1	0	0	0	0	1	0	0	0	6943	1812	63	5	1119	5	HADHA	2	26426943	Missense_Mutation	SNP	T	TCGA-P5-A5F0-01A-11D-A289-08		26426943	216772430	5	12165											
DNAH6	1768	broad.mit.edu	37	chr2	84784902	84784902	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcactgtcaaaacactgtgtTatcagttcctaatctcgtgc	10	14	6	11	1	4	0	3	0	1	0	6	0	5	0	1	0	2	2	1	0	4	3			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr2:84784902T>G	uc010fgb.3	+	10	1783	c.1646T>G	c.(1645-1647)tTa>tGa	p.L549*	DNAH6_uc002soo.3_Nonsense_Mutation_p.L128*|DNAH6_uc002sop.3_Nonsense_Mutation_p.L128*	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	549	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AACACTGTGTTATCAGTTCCT	0.343													42	97					0	0	1	0	0	G	84784902	T	G	84784902	4	3	282	1	0	0	0	0	0	1	0	0	4605	1764	61	5	1684	5	DNAH6	2	84784902	Nonsense_Mutation	SNP	T	TCGA-P5-A5F0-01A-11D-A289-08	58357959	84784902	158414471	6	12166											
USP39	10713	broad.mit.edu	37	chr2	85843529	85843529	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctgttgtcccgtttgtgCgggtgaagcgggagcgcgag	4	11	17	9	5	1	1	0	1	1	0	2	3	2	2	1	2	3	2	1	2	1	3			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr2:85843529C>T	uc002sqe.3	+	0	247	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W	USP39_uc002sqb.3_Intron|USP39_uc010ysu.2_Intron|USP39_uc010ysv.2_Intron|USP39_uc010fgn.1_Missense_Mutation_p.R71W|USP39_uc002sqg.3_Missense_Mutation_p.R71W|USP39_uc010fgo.3_Missense_Mutation_p.R71W	NM_006590	NP_006581	Q53GS9	SNUT2_HUMAN	Homo sapiens ubiquitin specific peptidase 39 (USP39), mRNA.	71	Arg-rich.				spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						CCCGTTTGTGCGGGTGAAGCG	0.726													3	29					0	0	1	0	0	T	85843529	C	T	85843529	3	4	282	1	0	0	0	0	1	0	0	0	17067	759	27	1	213	1	USP39	2	85843529	Missense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08	1058627	85843529	157355844	7	12167											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								19	43					0	0	1	0	0	T	209113112	C	T	209113112	3	4	282	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08	123269583	209113112	34086261	8	12168											
EPHA4	2043	broad.mit.edu	37	chr2	222301821	222301821	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccattctccatgtactctGttatgatcattactggttta	9	17	6	9	0	3	1	1	1	2	0	4	1	3	1	2	1	3	3	2	1	4	6			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr2:222301821G>T	uc002vmq.3	-	11	2138	c.2096C>A	c.(2095-2097)aCa>aAa	p.T699K	EPHA4_uc002vmr.2_Missense_Mutation_p.T699K|EPHA4_uc010zlm.1_Missense_Mutation_p.T640K	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	699	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CATGTACTCTGTTATGATCAT	0.378													33	53					3.86903e-22	4.00972e-22	1	1	0	T	222301821	G	T	222301821	3	4	282	1	0	0	0	0	1	0	0	0	5169	1377	48	5	888	5	EPHA4	2	222301821	Missense_Mutation	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	13188709	222301821	20897552	9	12169											
GPR15	2838	broad.mit.edu	37	chr3	98251295	98251295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggccattgtgtggccagtcGtatccaggaaattcagaagg	10	10	13	8	1	1	1	1	0	0	1	3	2	2	2	3	4	0	1	3	4	3	3			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr3:98251295G>A	uc011bgy.2	+	0	418	c.418G>A	c.(418-420)Gta>Ata	p.V140I		NM_005290	NP_005281	P49685	GPR15_HUMAN	Homo sapiens G protein-coupled receptor 15 (GPR15), mRNA.	140						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		GTGGCCAGTCGTATCCAGGAA	0.522													8	62					0	0	1	0	0	A	98251295	G	A	98251295	3	1	282	1	0	0	0	0	1	0	0	0	6655	1145	40	1	420	1	GPR15	3	98251295	Missense_Mutation	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08		98251295	99771135	10	12170											
CEP63	80254	broad.mit.edu	37	chr3	134277174	134277174	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagaacaactgagttcaAgaatacagagttcaagtaaa	19	7	8	7	0	2	4	2	1	0	3	2	4	2	4	0	0	4	4	0	0	8	4			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr3:134277174A>T	uc003eqo.1	+	13	2107	c.1658A>T	c.(1657-1659)aAg>aTg	p.K553M	CEP63_uc003eql.1_Intron|CEP63_uc003eqm.3_Intron|CEP63_uc003eqn.1_Intron	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	Homo sapiens centrosomal protein 63kDa (CEP63), transcript variant 1, mRNA.	553					DNA damage checkpoint|G2/M transition of mitotic cell cycle|cell division|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ACTGAGTTCAAGAATACAGAG	0.289													9	36					0	0	1	0	0	T	134277174	A	T	134277174	3	4	282	1	0	0	0	0	1	0	0	0	3257	72	3	5	1704	5	CEP63	3	134277174	Missense_Mutation	SNP	A	TCGA-P5-A5F0-01A-11D-A289-08	36025879	134277174	63745256	11	12171											
PIK3CA	5290	broad.mit.edu	37	chr3	178917478	178917478	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttatgtaattttattaaagGttttgctatcggcatgccag	10	18	8	5	1	0	0	0	0	0	0	1	0	0	0	1	2	2	4	1	2	6	9			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr3:178917478G>A	uc003fjk.3	+	3	510	c.353_splice	c.e3-1	p.G118_splice		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	118					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.G118D(26)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TTTATTAAAGGTTTTGCTATC	0.338		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			32	38					0	0	1	0	0	A	178917478	G	A	178917478	5	1	282	1	0	0	0	0	0	0	1	0	11913	1275	44	3	359	3	PIK3CA	3	178917478	Splice_Site	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	44640304	178917478	19104952	12	12172											
TSSK1B	83942	broad.mit.edu	37	chr5	112770050	112770050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattcgaccactgtcatcccGcaggcagcgcttggagaagc	9	7	11	14	3	1	1	1	0	0	1	3	3	2	1	2	2	2	3	2	2	1	2	rs139028259	by1000genomes	TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr5:112770050G>A	uc003kqm.2	-	0	679	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	MCC_uc003kql.4_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA.	163	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.R163R(1)		large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		CTGTCATCCCGCAGGCAGCGC	0.577													4	65					0	0	1	0	0	A	112770050	G	A	112770050	3	1	282	1	0	0	0	0	1	0	0	0	16665	1086	38	1	620	1	TSSK1B	5	112770050	Missense_Mutation	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08		112770050	68145210	13	12173											
SEMA6A	57556	broad.mit.edu	37	chr5	115813739	115813739	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcccatatcgttcacaccgGccaaggggaacctttatcac	10	10	7	14	2	2	0	2	0	0	0	4	1	3	1	4	3	1	1	4	3	4	5			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr5:115813739G>A	uc003krx.4	-	13	2248	c.1539C>T	c.(1537-1539)ggC>ggT	p.G513G	SEMA6A_uc010jck.3_Silent_p.G513G|SEMA6A_uc003krw.4_Silent_p.G45G|SEMA6A_uc010jcj.3_Silent_p.G57G	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA.	513					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GTTCACACCGGCCAAGGGGAA	0.463													4	158					0	0	1	0	0	A	115813739	G	A	115813739	2	1	282	1	0	0	0	0	0	0	0	1	14039	1190	42	3		3	SEMA6A	5	115813739	Silent	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	3043689	115813739	65101521	14	12174											
PCDHAC2	56134	broad.mit.edu	37	chr5	140306487	140306487	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagagggaggatggtgggcTgtggggtggcagttttatgt	6	12	20	3	0	0	1	0	0	0	1	0	3	0	3	0	7	0	3	0	7	2	3			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr5:140306487T>C	uc003lih.2	+	0	186	c.10T>C	c.(10-12)Tgt>Cgt	p.C4R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.C4R	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	0					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGGTGGGCTGTGGGGTGGC	0.647													12	59					0	0	1	0	0	C	140306487	T	C	140306487	3	2	282	1	0	0	0	0	1	0	0	0	11533	1580	55	4		4	PCDHAC2	5	140306487	Missense_Mutation	SNP	T	TCGA-P5-A5F0-01A-11D-A289-08	24492748	140306487	40608773	15	12175											
HIST1H3G	8355	broad.mit.edu	37	chr6	26271605	26271605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgtgcagtctgcttggtgCgggccatctcagactacctg	5	11	13	12	2	2	1	1	0	2	1	3	1	2	1	2	2	5	2	2	2	1	2			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr6:26271605C>T	uc003nhi.3	-	0	8	c.8G>A	c.(7-9)cGc>cAc	p.R3H	BC079832_uc003nhj.3_5'Flank|HIST1H2BI_uc003nhk.3_5'Flank	NM_003534	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3g (HIST1H3G), mRNA.	3					S phase|blood coagulation|nucleosome assembly|regulation of gene silencing	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						CTGCTTGGTGCGGGCCATCTC	0.562													4	63					0	0	1	0	0	T	26271605	C	T	26271605	3	4	282	1	0	0	0	0	1	0	0	0	7161	768	27	1	406	1	HIST1H3G	6	26271605	Missense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08		26271605	144843462	16	12176											
UTRN	7402	broad.mit.edu	37	chr6	144835787	144835787	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgttttcttataattagcGtttagtatctgagctggatg	8	19	10	4	1	2	1	0	1	2	0	2	2	2	2	0	1	2	4	0	1	5	8			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr6:144835787G>T	uc003qkt.3	+	36	5166	c.5074_splice	c.e36-1	p.R1692_splice		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	1692	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TATAATTAGCGTTTAGTATCT	0.388													11	108					3.07112e-06	3.07112e-06	1	1	0	T	144835787	G	T	144835787	5	4	282	1	0	0	0	0	0	0	1	0	17100	1159	40	5	5217	5	UTRN	6	144835787	Splice_Site	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	118564182	144835787	26279280	17	12177											
PSPH	5723	broad.mit.edu	37	chr7	56084931	56084931	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgttaacatcttaccgttAaagtagaatttcagcctatt	13	15	5	8	1	2	1	1	0	1	1	2	1	2	1	2	0	3	3	2	0	7	7			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr7:56084931A>C	uc003trj.3	-	3	819	c.504T>G	c.(502-504)ttT>ttG	p.F168L	PSPH_uc003trh.3_Missense_Mutation_p.F139L|PSPH_uc003tri.3_Missense_Mutation_p.F139L	NM_004577	NP_004568	P78330	SERB_HUMAN	Homo sapiens phosphoserine phosphatase (PSPH), mRNA.	139					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCTTACCGTTAAAGTAGAATT	0.383													38	31					0	0	1	0	0	C	56084931	A	C	56084931	3	2	282	1	0	0	0	0	1	0	0	0	12717	359	13	5	272	5	PSPH	7	56084931	Missense_Mutation	SNP	A	TCGA-P5-A5F0-01A-11D-A289-08		56084931	103053732	18	12178											
GNAI1	2770	broad.mit.edu	37	chr7	79842082	79842082	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagcatatgtaacaacaaGtggtttacagatacatccat	16	10	7	8	0	0	1	0	0	0	1	1	2	1	1	1	1	5	3	1	1	6	5			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr7:79842082G>C	uc003uhb.1	+	6	1108	c.771G>C	c.(769-771)aaG>aaC	p.K257N	GNAI1_uc011kgt.1_Missense_Mutation_p.K205N	NM_002069	NP_002060	P63096	GNAI1_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1 (GNAI1), transcript variant 1, mRNA.	257					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						GTAACAACAAGTGGTTTACAG	0.323													4	79					0	0	1	0	0	C	79842082	G	C	79842082	3	2	282	1	0	0	0	0	1	0	0	0	6504	1020	36	5	797	5	GNAI1	7	79842082	Missense_Mutation	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	23757151	79842082	79296581	19	12179											
PKN3	29941	broad.mit.edu	37	chr9	131479035	131479035	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctcctgtagcctgtactgCgagaagcggatcctggaggc	7	9	13	12	2	1	1	0	0	1	1	3	4	2	3	3	3	4	2	3	3	3	2			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr9:131479035C>G	uc004bvw.3	+	15	2211	c.1818C>G	c.(1816-1818)tgC>tgG	p.C606W	PKN3_uc010myh.3_Missense_Mutation_p.C606W|PKN3_uc022bom.1_Non-coding_Transcript	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	Homo sapiens protein kinase N3 (PKN3), mRNA.	606	Protein kinase.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GCCTGTACTGCGAGAAGCGGA	0.602													16	150					0	0	1	0	0	G	131479035	C	G	131479035	3	3	282	1	0	0	0	0	1	0	0	0	11981	776	27	5	1880	5	PKN3	9	131479035	Missense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08		131479035	9734396	20	12180											
NOTCH1	4851	broad.mit.edu	37	chr9	139412283	139412285	+	In_Frame_Del	DEL	GTT	GTT	-																															cacgggttcgagacgcactcGttgacgtcgatctcgcatcg																										TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr9:139412283_139412285delGTT	uc004chz.3	-	7	1360_1362	c.1360_1362delAAC	c.(1360-1362)aacdel	p.N454del		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	454	EGF-like 12; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.N454delN(3)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGACGCACTCGTTGACGTCGATC	0.66			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			13	113	---	---	---	---						-	139412285	GTT	-	139412283	7	5	282	1	0	1	0	1	0	0	0	0	10547	1136	40	0	6413	0	NOTCH1	9	139412283	In_Frame_Del	DEL	GTT	TCGA-P5-A5F0-01A-11D-A289-08	7933248	139412283	1801148	21	12181											
ITIH5	80760	broad.mit.edu	37	chr10	7679258	7679258	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctccagggatgcgatgccCgcgctctccaggatattcac	8	8	10	15	3	2	0	1	0	1	0	4	3	3	2	4	2	2	1	4	2	1	2			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr10:7679258C>T	uc021pmv.1	-	4	691	c.585G>A	c.(583-585)gcG>gcA	p.A195A	ITIH5_uc001ijr.2_Silent_p.A195A	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	195					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.A195V(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ATGCGATGCCCGCGCTCTCCA	0.657													61	120					0	0	1	0	0	T	7679258	C	T	7679258	2	4	282	1	0	0	0	0	0	0	0	1	7907	639	23	2		2	ITIH5	10	7679258	Silent	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08		7679258	127855489	22	12182											
TEAD1	7003	broad.mit.edu	37	chr11	12883803	12883803	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttctttctttcaggtaggaAtgaattgatagccagataca	12	14	8	7	0	3	3	1	2	2	1	3	4	3	4	1	2	2	1	1	2	5	7			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr11:12883803A>G	uc021qdx.1	+	3	829	c.209A>G	c.(208-210)aAt>aGt	p.N70S	TEAD1_uc009ygk.3_Non-coding_Transcript	NM_021961	NP_068780	P28347	TEAD1_HUMAN	Homo sapiens TEA domain family member 1 (SV40 transcriptional enhancer factor) (TEAD1), mRNA.	70					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TCAGGTAGGAATGAATTGATA	0.403													5	54					0	0	1	0	0	G	12883803	A	G	12883803	3	3	282	1	0	0	0	0	1	0	0	0	15735	101	4	3	215	3	TEAD1	11	12883803	Missense_Mutation	SNP	A	TCGA-P5-A5F0-01A-11D-A289-08		12883803	122122713	23	12183											
OR4C16	219428	broad.mit.edu	37	chr11	55339694	55339694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagtgtttgttatttttttgCgtctctacttgggaacactg	6	20	9	6	1	1	0	0	0	1	0	2	1	1	1	0	1	3	2	0	1	4	8			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr11:55339694C>T	uc010rih.2	+	0	91	c.91C>T	c.(91-93)Cgt>Tgt	p.R31C		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R31H(2)|p.R31L(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TATTTTTTTGCGTCTCTACTT	0.373													47	87					0	0	1	0	0	T	55339694	C	T	55339694	3	4	282	1	0	0	0	0	1	0	0	0	11049	768	27	1	93	1	OR4C16	11	55339694	Missense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08	42455891	55339694	79666822	24	12184											
MMP10	4319	broad.mit.edu	37	chr11	102649942	102649942	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatggatgctttatttgattAcctttaactgcaaaagagat	14	15	7	5	0	0	2	0	1	0	1	0	4	0	3	1	1	4	2	1	1	6	6			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr11:102649942A>G	uc001phg.2	-	3	533	c.496_splice	c.e3+1	p.E166_splice		NM_002425	NP_002416	P09238	MMP10_HUMAN	Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA.	166					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		TTATTTGATTACCTTTAACTG	0.373													5	109					0	0	1	0	0	G	102649942	A	G	102649942	5	3	282	1	0	0	0	0	0	0	1	0	9649	405	14	3	964	3	MMP10	11	102649942	Splice_Site	SNP	A	TCGA-P5-A5F0-01A-11D-A289-08	47310248	102649942	32356574	25	12185											
POU2AF1	5450	broad.mit.edu	37	chr11	111229622	111229622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtatggccgggccggggctGgggcttgctccggagctgtg	2	8	21	10	3	0	0	0	0	0	0	1	1	1	1	3	8	2	5	3	8	1	2			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr11:111229622G>A	uc001plg.4	-	1	293	c.38C>T	c.(37-39)cCa>cTa	p.P13L		NM_006235	NP_006226	Q16633	OBF1_HUMAN	Homo sapiens POU class 2 associating factor 1 (POU2AF1), mRNA.	13					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		GGCCGGGGCTGGGGCTTGCTC	0.632			T	BCL6	NHL								18	28					0	0	1	0	0	A	111229622	G	A	111229622	3	1	282	1	0	0	0	0	1	0	0	0	12270	1348	47	3	748	3	POU2AF1	11	111229622	Missense_Mutation	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	8579680	111229622	23776894	26	12186											
CD163L1	283316	broad.mit.edu	37	chr12	7526163	7526163	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgacgctgccccaggtcccGttatagaagacttccaatct	9	9	8	15	3	1	2	0	0	1	2	3	3	3	2	5	1	1	2	5	1	4	3			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr12:7526163G>A	uc010sge.2	-	13	3539	c.3513C>T	c.(3511-3513)aaC>aaT	p.N1171N	CD163L1_uc001qsy.3_Silent_p.N1161N	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1161	SRCR 11.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCCAGGTCCCGTTATAGAAGA	0.512													9	301					0	0	1	0	0	A	7526163	G	A	7526163	2	1	282	1	0	0	0	0	0	0	0	1	2968	1136	40	1		1	CD163L1	12	7526163	Silent	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08		7526163	126325732	27	12187											
A2ML1	144568	broad.mit.edu	37	chr12	8976368	8976368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggccacaatccgggtgtcggGagttggaaataacatcagct	11	8	13	9	2	1	0	1	0	0	0	3	2	2	2	2	4	2	2	2	4	3	2			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr12:8976368G>A	uc001quz.4	+	2	397	c.299G>A	c.(298-300)gGa>gAa	p.G100E		NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	0						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CGGGTGTCGGGAGTTGGAAAT	0.527													75	121					0	0	1	0	0	A	8976368	G	A	8976368	3	1	282	1	0	0	0	0	1	0	0	0	5	1174	41	3	309	3	A2ML1	12	8976368	Missense_Mutation	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	1450205	8976368	124875527	28	12188											
SPATA13	221178	broad.mit.edu	37	chr13	24858319	24858319	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgccttagtggatgacaaCggtagtgaggaggacttcag	10	10	14	7	1	2	2	1	2	1	0	2	5	2	5	1	4	2	1	1	4	3	3			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr13:24858319C>G	uc001upd.2	+	6	2789	c.2211C>G	c.(2209-2211)aaC>aaG	p.N737K	SPATA13_uc001upe.3_Non-coding_Transcript|SPATA13_uc021rhg.1_Missense_Mutation_p.N737K|SPATA13_uc001upg.2_Missense_Mutation_p.N112K|SPATA13_uc010tcy.1_Missense_Mutation_p.N58K|SPATA13_uc010tcz.2_Missense_Mutation_p.N58K|SPATA13_uc010tdb.2_Missense_Mutation_p.N34K|SPATA13_uc010tda.2_Missense_Mutation_p.N56K|SPATA13_uc001uph.3_Missense_Mutation_p.N34K	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	Homo sapiens spermatogenesis associated 13 (SPATA13), transcript variant 2, mRNA.	112					cell migration|filopodium assembly|lamellipodium assembly|regulation of Rho protein signal transduction|regulation of cell migration	cytoplasm|filopodium|lamellipodium|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein binding			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		TGGATGACAACGgtagtgagg	0.493													19	12					0	0	1	0	0	G	24858319	C	G	24858319	3	3	282	1	0	0	0	0	1	0	0	0	14999	535	19	5	2225	5	SPATA13	13	24858319	Missense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08		24858319	90311559	29	12189											
USP8	9101	broad.mit.edu	37	chr15	50769066	50769066	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaaagtaaaactgtcctGcgcaatgagcctttggtttt	10	13	11	7	1	0	1	0	1	0	0	1	2	1	2	2	2	3	3	2	2	4	4			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr15:50769066G>C	uc001zym.4	+	9	1370	c.870G>C	c.(868-870)ctG>ctC	p.L290L	USP8_uc001zyk.1_5'UTR|USP8_uc001zyl.4_Silent_p.L290L|USP8_uc001zyn.4_Silent_p.L290L|USP8_uc010ufh.2_Silent_p.L213L|USP8_uc010bev.1_Intron	NM_001128611	NP_005145	P40818	UBP8_HUMAN	Homo sapiens ubiquitin specific peptidase 8 (USP8), transcript variant 3, mRNA.	290	Rhodanese.				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	SH3 domain binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		AAACTGTCCTGCGCAATGAGC	0.393													29	67					0	0	1	0	0	C	50769066	G	C	50769066	2	2	282	1	0	0	0	0	0	0	0	1	17086	1306	46	5		5	USP8	15	50769066	Silent	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08		50769066	51762326	30	12190											
PLK1	5347	broad.mit.edu	37	chr16	23695207	23695207	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagcacatcaaccccgtggCcgcctccctcatccagaaga	10	5	7	19	2	2	2	2	0	0	2	4	2	4	2	7	1	2	1	7	1	2	0			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr16:23695207C>G	uc002dlz.1	+	4	886	c.833C>G	c.(832-834)gCc>gGc	p.A278G		NM_005030	NP_005021	P53350	PLK1_HUMAN	Homo sapiens polo-like kinase 1 (PLK1), mRNA.	278	Protein kinase.				G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	ATP binding|anaphase-promoting complex binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		AACCCCGTGGCCGCCTCCCTC	0.557													53	494					0	0	1	0	0	G	23695207	C	G	23695207	3	3	282	1	0	0	0	0	1	0	0	0	12094	739	26	5	851	5	PLK1	16	23695207	Missense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08		23695207	66659546	31	12191											
NACA2	342538	broad.mit.edu	37	chr17	59668211	59668211	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagcagggctcttgtagaCgtccagttttgtgatgacaa	10	11	12	8	2	1	3	0	2	1	1	2	4	2	3	1	1	1	4	1	1	3	4			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr17:59668211C>T	uc002izj.2	-	0	353	c.331G>A	c.(331-333)Gtc>Atc	p.V111I		NM_199290	NP_954984	Q9H009	NACA2_HUMAN	Homo sapiens nascent polypeptide-associated complex alpha subunit 2 (NACA2), mRNA.	111	NAC-A/B.				protein transport	cytoplasm|nucleus				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					CTCTTGTAGACGTCCAGTTTT	0.443													80	198					0	0	1	0	0	T	59668211	C	T	59668211	3	4	282	1	0	0	0	0	1	0	0	0	10134	536	19	1	320	1	NACA2	17	59668211	Missense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08		59668211	21526999	32	12192											
FN3K	64122	broad.mit.edu	37	chr17	80693452	80693452	+	Splice_Site	DEL	C	C	-																															cgcgctcccgccccgccccgCcccgcagcgcctcagccgac																										TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr17:80693452delC	uc010wvs.1	+	1	1	c.-60_splice	c.e1-1		FN3K_uc002kfw.1_5'Flank	NM_022158	NP_071441	Q9H479	FN3K_HUMAN	Homo sapiens fructosamine 3 kinase (FN3K), mRNA.						fructoselysine metabolic process		fructosamine-3-kinase activity			central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1)	4	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			ccccgccccgccccgcAGCGC	0.816													2	4	---	---	---	---						-	80693452	C	-	80693452	8	5	282	1	0	1	0	1	0	0	1	0	5963	753	26	0		0	FN3K	17	80693452	Splice_Site	DEL	C	TCGA-P5-A5F0-01A-11D-A289-08	21025241	80693452	501758	33	12193											
GRAMD1A	57655	broad.mit.edu	37	chr19	35504508	35504508	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acctcctcgggggcagctgaCcgcagccaggagccaagccc	8	3	13	17	2	0	1	0	1	0	0	2	2	1	2	6	3	4	3	6	3	1	0			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr19:35504508C>T	uc010xsf.1	+	8	798	c.798C>T	c.(796-798)gaC>gaT	p.D266D	GRAMD1A_uc002nxi.1_Silent_p.D348D|GRAMD1A_uc010xse.1_Silent_p.D261D|GRAMD1A_uc002nxk.2_Silent_p.D254D|GRAMD1A_uc002nxl.2_Silent_p.D27D|GRAMD1A_uc002nxn.1_5'Flank	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	Homo sapiens GRAM domain containing 1A (GRAMD1A), transcript variant 1, mRNA.	261						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGGCAGCTGACCGCAGCCAGG	0.662													26	24					0	0	1	0	0	T	35504508	C	T	35504508	2	4	282	1	0	0	0	0	0	0	0	1	6747	506	18	3		3	GRAMD1A	19	35504508	Silent	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08		35504508	23624475	34	12194											
CIC	23152	broad.mit.edu	37	chr19	42791828	42791828	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagatcctgggcgagtggtgGtatgccctggggcccaagga	8	7	17	9	1	0	1	0	0	0	1	1	3	1	2	3	6	1	1	3	6	3	1			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr19:42791828G>A	uc002otf.1	+	4	754	c.714G>A	c.(712-714)tgG>tgA	p.W238*		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCGAGTGGTGGTATGCCCTGG	0.617			"Mis, F, S"		oligodendroglioma								32	47					0	0	1	0	0	A	42791828	G	A	42791828	4	1	282	1	0	0	0	0	0	1	0	0	3424	1270	44	3	732	3	CIC	19	42791828	Nonsense_Mutation	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	7287320	42791828	16337155	35	12195			1	30		3	3	5052	N	G_C_A	2.227202e-05
CIC	23152	broad.mit.edu	37	chr19	42795615	42795615	+	Frame_Shift_Del	DEL	A	A	-																															taccctccgccccaccccccAaaggtgagacctgggccggg																										TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr19:42795615delA	uc002otf.1	+	9	2735	c.2695delA	c.(2695-2697)aaafs	p.K899fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	899	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCCACCCCCCAAAGGTGAGAC	0.617			"Mis, F, S"		oligodendroglioma								18	120	---	---	---	---						-	42795615	A	-	42795615	7	5	282	1	0	1	0	1	0	0	0	0	3424	131	5	0	2733	0	CIC	19	42795615	Frame_Shift_Del	DEL	A	TCGA-P5-A5F0-01A-11D-A289-08	3787	42795615	16333368	36	12196			1	30		3	3	5052	N	G_C_A	2.227202e-05
CIC	23152	broad.mit.edu	37	chr19	42796879	42796879	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccctggcccagccatccCaggcccccccaagcctggtc	6	4	8	23	0	0	0	0	0	0	0	2	0	1	0	9	3	2	0	9	3	1	0			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr19:42796879C>T	uc002otf.1	+	13	3377	c.3337C>T	c.(3337-3339)Cag>Tag	p.Q1113*		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1113	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCAGCCATCCCAGGCCCCCCC	0.682			"Mis, F, S"		oligodendroglioma								6	79					0	0	1	0	0	T	42796879	C	T	42796879	4	4	282	1	0	0	0	0	0	1	0	0	3424	595	21	3	3391	3	CIC	19	42796879	Nonsense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08	1264	42796879	16332104	37	12197			1	30		3	3	5052	N	G_C_A	2.227202e-05
ZFP112	7771	broad.mit.edu	37	chr19	44892085	44892085	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcctgcccactcttcacTgagggaaacatcttctaaat	12	11	6	12	0	4	1	1	1	3	0	4	2	4	2	2	1	3	0	2	1	4	3	rs79240579	by1000genomes	TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr19:44892085T>A	uc010xxa.2	-	3	386	c.343A>T	c.(343-345)Agt>Tgt	p.S115C	ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Missense_Mutation_p.S108C	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 285 (ZNF285), mRNA.	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						CACTCTTCACTGAGGGAAACA	0.393													4	84					0	0	1	0	0	A	44892085	T	A	44892085	3	1	282	1	0	0	0	0	1	0	0	0	17635	1580	55	5		5	ZFP112	19	44892085	Missense_Mutation	SNP	T	TCGA-P5-A5F0-01A-11D-A289-08	2095206	44892085	14236898	38	12198											
FGF21	26291	broad.mit.edu	37	chr19	49261318	49261318	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccacaccgggaccctgcAccccgaggaccagctcgctt	7	5	9	20	3	0	0	0	0	0	0	2	3	1	2	7	2	2	3	7	2	0	1			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr19:49261318A>C	uc002pkn.1	+	3	1043	c.471A>C	c.(469-471)gcA>gcC	p.A157A	FUT1_uc002pkk.3_5'Flank|FUT1_uc002pkm.1_5'Flank|FGF21_uc002pko.1_Silent_p.A157A	NM_019113	NP_061986	Q9NSA1	FGF21_HUMAN	Homo sapiens fibroblast growth factor 21 (FGF21), mRNA.	157					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		GGGACCCTGCACCCCGAGGAC	0.682													12	42					0	0	1	0	0	C	49261318	A	C	49261318	2	2	282	1	0	0	0	0	0	0	0	1	5850	146	6	5		5	FGF21	19	49261318	Silent	SNP	A	TCGA-P5-A5F0-01A-11D-A289-08	4369233	49261318	9867665	39	12199											
CCT8L2	150160	broad.mit.edu	37	chr22	17072572	17072576	+	Frame_Shift_Del	DEL	ATTCC	ATTCC	-																															ccaacaccactgccacattaAttcctgcagctgctagctgg																										TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr22:17072572_17072576delATTCC	uc002zlp.1	-	0	1125_1129	c.865_869delGGAAT	c.(865-870)ggaattfs	p.G289fs		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	289					cellular protein metabolic process	cytoplasm	ATP binding|anion channel activity|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGCCACATTAATTCCTGCAGCTGCT	0.507													16	278	---	---	---	---						-	17072576	ATTCC	-	17072572	7	5	282	1	0	1	0	1	0	0	0	0	2961	101	4	0	808	0	CCT8L2	22	17072572	Frame_Shift_Del	DEL	ATTCC	TCGA-P5-A5F0-01A-11D-A289-08		17072572	34231994	40	12200											
ZFX	7543	broad.mit.edu	37	chrX	24229107	24229109	+	In_Frame_Del	DEL	AAG	AAG	-																															ttcacaggccttcagaactcAagaaacacgtggctgcccac																										TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chrX:24229107_24229109delAAG	uc011mjv.2	+	9	2398_2400	c.2149_2151delAAG	c.(2149-2151)aagdel	p.K718del	ZFX_uc004dbd.2_In_Frame_Del_p.K679del|ZFX_uc004dbf.3_In_Frame_Del_p.K679del|ZFX_uc004dbe.3_3'UTR|ZFX_uc022bua.1_In_Frame_Del_p.K679del|ZFX_uc010nfx.2_In_Frame_Del_p.K450del|ZFX_uc010nfz.3_In_Frame_Del_p.K335del	NM_001178086	NP_001171557	P17010	ZFX_HUMAN	Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA.	679					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TTCAGAACTCAAGAAACACGTGG	0.424													15	52	---	---	---	---						-	24229109	AAG	-	24229107	7	5	282	1	0	1	0	1	0	0	0	0	17658	131	5	0	2117	0	ZFX	23	24229107	In_Frame_Del	DEL	AAG	TCGA-P5-A5F0-01A-11D-A289-08		24229107	131041453	41	12201											
CR1	1378	broad.mit.edu	37	chr1	207679428	207679428	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctaaggacaggtgcagaCgtaagtaactctggagtggg	11	8	16	6	1	1	1	0	0	1	1	1	3	1	3	0	4	3	4	0	4	3	3			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr1:207679428C>T	uc001hfy.3	+	2	441	c.301_splice	c.e2+1	p.R101_splice	CR1_uc009xcl.1_Splice_Site_p.R101_splice|CR1_uc001hfx.3_Splice_Site_p.R101_splice|CR1_uc021pij.1_Splice_Site_p.R101_splice|CR1_uc010psg.1_Splice_Site_p.R101_splice|CR1_uc009xcj.1_Splice_Site_p.R101_splice|CR1_uc009xck.1_Splice_Site_p.R101_splice	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	101	Sushi 1.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CAGGTGCAGACGTAAGTAACT	0.418													10	117					0	0	1	0	0	T	207679428	C	T	207679428	5	4	283	1	0	0	0	0	0	0	1	0	3840	550	19	1	307	1	CR1	1	207679428	Splice_Site	SNP	C	TCGA-P5-A5F1-01A-11D-A289-08		207679428	41571193	1	12202											
HTRA2	27429	broad.mit.edu	37	chr2	74757185	74757186	+	Frame_Shift_Ins	INS	-	-	G																															ctggagccttcgggcatggcINSgggctttggggggcattcgc																										TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr2:74757185_74757186insG	uc002smi.1	+	0	654_655	c.52_53insG	c.(52-54)cggfs	p.R18fs	AUP1_uc002sme.3_5'Flank|AUP1_uc002smf.3_5'Flank|AUP1_uc002smg.3_5'Flank|AUP1_uc002smh.3_5'Flank|AUP1_uc010yrx.2_5'Flank|AUP1_uc021vjm.1_5'Flank|AUP1_uc010yry.2_5'Flank|HTRA2_uc002smj.1_Frame_Shift_Ins_p.R18fs|HTRA2_uc002smk.1_Frame_Shift_Ins_p.R18fs|HTRA2_uc002sml.1_Frame_Shift_Ins_p.R18fs|HTRA2_uc010ffl.3_5'Flank	NM_013247	NP_037379	O43464	HTRA2_HUMAN	Homo sapiens HtrA serine peptidase 2 (HTRA2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	18					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TCGGGCATGGCGGGCTTTGGGG	0.718													11	139	---	---	---	---						G	74757186	-	G	74757185	7	5	283	1	0	1	1	0	0	0	0	0	7454	759	27	0	54	0	HTRA2	2	74757185	Frame_Shift_Ins	INS	-	TCGA-P5-A5F1-01A-11D-A289-08		74757185	168442188	2	12203											
TTN	7273	broad.mit.edu	37	chr2	179412203	179412203	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaatctgttctctgaacTgacacggaaagaatattcca	15	10	6	10	1	2	3	0	2	2	1	4	4	3	4	2	1	1	1	2	1	5	3			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr2:179412203T>G	uc021vsy.1	-	287	86671	c.86446A>C	c.(86446-86448)Agt>Cgt	p.S28816R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S22511R|TTN_uc021vta.1_Missense_Mutation_p.S22444R|TTN_uc021vtb.1_Missense_Mutation_p.S22319R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29743	Fibronectin type-III 110.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTCTGAACTGACACGGAAA	0.383													5	12					0	0	1	0	0	G	179412203	T	G	179412203	3	3	283	1	0	0	0	0	1	0	0	0	16732	1580	55	5	13925	5	TTN	2	179412203	Missense_Mutation	SNP	T	TCGA-P5-A5F1-01A-11D-A289-08	104655018	179412203	63787170	3	12204											
RAPH1	65059	broad.mit.edu	37	chr2	204304519	204304519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatctcagcttgagtgaggcGggtgctatcattccgtttgg	7	13	13	8	2	2	2	2	2	1	0	4	2	3	2	1	3	2	3	1	3	2	4	rs146219972	byFrequency	TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr2:204304519G>A	uc002vad.3	-	13	3619	c.3394C>T	c.(3394-3396)Cgc>Tgc	p.R1132C		NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.	1132					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGAGTGAGGCGGGTGCTATCA	0.517													44	54					0	0	1	0	0	A	204304519	G	A	204304519	3	1	283	1	0	0	0	0	1	0	0	0	13050	1116	39	2	362	2	RAPH1	2	204304519	Missense_Mutation	SNP	G	TCGA-P5-A5F1-01A-11D-A289-08	24892316	204304519	38894854	4	12205											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								22	45					0	0	1	0	0	T	209113112	C	T	209113112	3	4	283	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A5F1-01A-11D-A289-08	4808593	209113112	34086261	5	12206											
PCDH10	57575	broad.mit.edu	37	chr4	134072551	134072551	+	Frame_Shift_Del	DEL	C	C	-																															ctacaccatcgttaccgaagCccccctggaccgagaggcgg																										TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr4:134072551delC	uc003iha.3	+	0	2082	c.1256delC	c.(1255-1257)gccfs	p.A419fs	BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Frame_Shift_Del_p.A419fs	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	419	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GTTACCGAAGCCCCCCTGGAC	0.592													7	429	---	---	---	---						-	134072551	C	-	134072551	7	5	283	1	0	1	0	1	0	0	0	0	11507	739	26	0	1258	0	PCDH10	4	134072551	Frame_Shift_Del	DEL	C	TCGA-P5-A5F1-01A-11D-A289-08		134072551	57081725	6	12207											
STK19	8859	broad.mit.edu	37	chr6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A																															attcagcgacagtggcgggcINSaaacccctcccggggcgggg																										TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr6:31939829_31939830insA	uc003nyv.3	+	0	184_185	c.56_57insA	c.(55-57)gcafs	p.A19fs	DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.3_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.2_Frame_Shift_Ins_p.A19fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.3_Frame_Shift_Ins_p.A19fs|STK19_uc010jtn.1_5'Flank	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	19						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													12	193	---	---	---	---						A	31939830	-	A	31939829	7	5	283	1	0	1	1	0	0	0	0	0	15291	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-P5-A5F1-01A-11D-A289-08		31939829	139175238	7	12208											
MKI67	4288	broad.mit.edu	37	chr10	129905566	129905566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtccactttcctgagacttCtcttggactgtggcttggag	5	14	11	11	1	1	1	0	1	1	1	4	4	3	3	2	3	0	1	2	3	0	4			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr10:129905566C>T	uc001lke.3	-	12	4733	c.4538G>A	c.(4537-4539)aGa>aAa	p.R1513K	MKI67_uc001lkf.3_Missense_Mutation_p.R1153K|MKI67_uc009yav.1_Missense_Mutation_p.R1088K|MKI67_uc009yaw.1_Missense_Mutation_p.R663K	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1513	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCTGAGACTTCTCTTGGACTG	0.498													27	332					0	0	1	0	0	T	129905566	C	T	129905566	3	4	283	1	0	0	0	0	1	0	0	0	9598	913	32	3	5244	3	MKI67	10	129905566	Missense_Mutation	SNP	C	TCGA-P5-A5F1-01A-11D-A289-08		129905566	5629181	8	12209											
TRIM6-TRIM34	445372	broad.mit.edu	37	chr11	5624532	5624532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggcaggcaggagccaggaGagtagctacaatgacttcac	12	6	14	9	0	1	2	1	1	0	1	1	4	1	3	1	4	3	4	1	4	3	3			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr11:5624532G>A	uc001mbf.3	+	1	337	c.74G>A	c.(73-75)aGa>aAa	p.R25K	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc009yeo.2_5'UTR|TRIM6-TRIM34_uc010qzj.2_Intron|TRIM6-TRIM34_uc001mbc.2_5'UTR|TRIM6-TRIM34_uc001mbe.3_Intron|TRIM6-TRIM34_uc001mbd.3_Missense_Mutation_p.R25K|TRIM6-TRIM34_uc010qzk.2_Intron|TRIM6-TRIM34_uc010qzl.2_Intron|TRIM6-TRIM34_uc009yep.1_5'Flank	NM_001003819	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA.	25						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		GGAGCCAGGAGAGTAGCTACA	0.483													11	40					0	0	1	0	0	A	5624532	G	A	5624532	3	1	283	1	0	0	0	0	1	0	0	0	16531	942	33	3	80	3	TRIM6-TRIM34	11	5624532	Missense_Mutation	SNP	G	TCGA-P5-A5F1-01A-11D-A289-08		5624532	129381984	9	12210											
LRFN4	78999	broad.mit.edu	37	chr11	66627620	66627620	+	Frame_Shift_Del	DEL	G	G	-																															gctgctcggggcagggtgccGgggggtaggaggcagcgccg																										TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr11:66627620delG	uc001ojr.3	+	1	2202	c.1862delG	c.(1861-1863)cggfs	p.R621fs	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 4 (LRFN4), mRNA.	621						integral to membrane				breast(1)|lung(1)|prostate(1)	3						GCAGGGTGCCGGGGGGTAGGA	0.692													2	4	---	---	---	---						-	66627620	G	-	66627620	7	5	283	1	0	1	0	1	0	0	0	0	8940	1116	39	0	1868	0	LRFN4	11	66627620	Frame_Shift_Del	DEL	G	TCGA-P5-A5F1-01A-11D-A289-08	61003088	66627620	68378896	10	12211											
FAM90A1	55138	broad.mit.edu	37	chr12	8376067	8376067	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagataatcagaagattccGtggatcctttttgatttggc	10	15	9	7	1	2	4	2	1	0	3	4	5	4	5	2	2	0	0	2	2	2	5	rs150256213		TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr12:8376067G>A	uc001qui.2	-	5	969	c.410C>T	c.(409-411)aCg>aTg	p.T137M	FAM90A1_uc001quh.2_Missense_Mutation_p.T137M	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	137							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		AGAAGATTCCGTGGATCCTTT	0.527													22	50					0	0	1	0	0	A	8376067	G	A	8376067	3	1	283	1	0	0	0	0	1	0	0	0	5650	1145	40	1	992	1	FAM90A1	12	8376067	Missense_Mutation	SNP	G	TCGA-P5-A5F1-01A-11D-A289-08		8376067	125475828	11	12212											
NYNRIN	57523	broad.mit.edu	37	chr14	24884572	24884572	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagggcccccagtcaggggGtgacagcccctatgctgtgg	6	6	15	14	0	1	1	1	1	0	0	1	1	1	1	5	4	2	1	5	4	1	1			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr14:24884572G>A	uc001wpf.4	+	8	3935	c.3617G>A	c.(3616-3618)gGt>gAt	p.G1206D		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1206					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CAGTCAGGGGGTGACAGCCCC	0.617													63	96					0	0	1	0	0	A	24884572	G	A	24884572	3	1	283	1	0	0	0	0	1	0	0	0	10796	1261	44	3	3647	3	NYNRIN	14	24884572	Missense_Mutation	SNP	G	TCGA-P5-A5F1-01A-11D-A289-08		24884572	82464968	12	12213											
TP53	7157	broad.mit.edu	37	chr17	7577157	7577158	+	Splice_Site	DEL	TA	TA	-																															ccgtcccagtagattaccacTactcaggataggaaaagaga																										TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr17:7577157_7577158delTA	uc002gim.2	-	8	977	c.783_splice	c.e8-1	p.S261_splice	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Splice_Site_p.S261_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Splice_Site_p.S129_splice|TP53_uc010cnf.1_Splice_Site_p.S129_splice|TP53_uc002gii.1_Splice_Site_p.S129_splice|TP53_uc010cni.1_Splice_Site_p.S261_splice|TP53_uc010cnh.1_Splice_Site_p.S261_splice|TP53_uc002gij.2_Splice_Site_p.S261_splice|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.	261	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		S -> C (in a sporadic cancer; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in sporadic cancers; somatic mutation).|S -> N (in a sporadic cancer; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(12)|p.0?(8)|p.E258fs*71(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)		AGATTACCACTACTCAGGATAG	0.515		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)			3	6	---	---	---	---						-	7577158	TA	-	7577157	8	5	283	1	0	1	0	1	0	0	1	0	16378	1536	53	0	505	0	TP53	17	7577157	Splice_Site	DEL	TA	TCGA-P5-A5F1-01A-11D-A289-08		7577157	73618053	13	12214											
TP53	7157	broad.mit.edu	37	chr17	7578492	7578492	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcgggggtgtggaatcaacCcacagctgcacagggcaggt	9	5	17	10	1	1	0	1	0	0	0	1	1	1	1	1	6	3	3	1	6	2	0			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr17:7578492C>T	uc002gim.2	-	4	632	c.438G>A	c.(436-438)tgG>tgA	p.W146*	TP53_uc002gig.1_Nonsense_Mutation_p.W146*|TP53_uc002gih.3_Nonsense_Mutation_p.W146*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.W14*|TP53_uc010cnf.1_Nonsense_Mutation_p.W14*|TP53_uc002gii.1_Nonsense_Mutation_p.W14*|TP53_uc010cni.1_Nonsense_Mutation_p.W146*|TP53_uc010cnh.1_Nonsense_Mutation_p.W146*|TP53_uc002gij.2_Nonsense_Mutation_p.W146*|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Nonsense_Mutation_p.W53*|TP53_uc002gio.2_Nonsense_Mutation_p.W14*|TP53_uc010vug.2_Nonsense_Mutation_p.W107*	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	146	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		W -> C (in a sporadic cancer; somatic mutation).|W -> G (in sporadic cancers; somatic mutation).|W -> L (in sporadic cancers; somatic mutation).|W -> R (in sporadic cancers; somatic mutation).|W -> S (in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.W146*(105)|p.L145P(17)|p.L145Q(17)|p.0?(8)|p.L145L(8)|p.L145R(7)|p.W146R(5)|p.W146C(4)|p.W14*(3)|p.W53*(3)|p.L137_W146del10(2)|p.W146fs*22(2)|p.W146fs*23(2)|p.W146_S149>C(2)|p.W146S(2)|p.W146fs*1(2)|p.V143_S149del(2)|p.Q144_G154del11(2)|p.W146_V147insXXXXXXX(2)|p.L145V(2)|p.L145del(1)|p.W146fs*25(1)|p.W146G(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.L145M(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)		TGGAATCAACCCACAGCTGCA	0.602		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)			28	60					0	0	1	0	0	T	7578492	C	T	7578492	4	4	283	1	0	0	0	0	0	1	0	0	16378	624	22	3	860	3	TP53	17	7578492	Nonsense_Mutation	SNP	C	TCGA-P5-A5F1-01A-11D-A289-08	1335	7578492	73616718	14	12215											
ACACA	31	broad.mit.edu	37	chr17	35545360	35545360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagttctgcctggaggaCgcgcaatttccacaggcgac	8	10	11	12	3	2	0	1	0	1	0	3	3	3	2	2	3	1	2	2	3	1	3			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr17:35545360C>T	uc002hnm.3	-	38	4713	c.4522G>A	c.(4522-4524)Gtc>Atc	p.V1508I	ACACA_uc002hnk.3_Missense_Mutation_p.V1430I|ACACA_uc002hnl.3_Missense_Mutation_p.V1450I|ACACA_uc002hnn.3_Missense_Mutation_p.V1508I|ACACA_uc002hno.3_Missense_Mutation_p.V1545I|ACACA_uc010cuy.3_Missense_Mutation_p.V202I	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	1508					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GCCTGGAGGACGCGCAATTTC	0.483													20	61					0	0	1	0	0	T	35545360	C	T	35545360	3	4	283	1	0	0	0	0	1	0	0	0	106	536	19	1	2590	1	ACACA	17	35545360	Missense_Mutation	SNP	C	TCGA-P5-A5F1-01A-11D-A289-08	27966868	35545360	45649850	15	12216											
C1QTNF1	114897	broad.mit.edu	37	chr17	77043851	77043851	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagttcgtgaacctctacgAccacttcaacatgttcaccg	10	10	8	13	3	3	1	2	1	1	0	4	3	3	2	3	1	3	2	3	1	3	4			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr17:77043851A>C	uc002jwt.3	+	2	903	c.821A>C	c.(820-822)gAc>gCc	p.D274A	C1QTNF1_uc002jwp.3_Missense_Mutation_p.D176A|C1QTNF1_uc002jwq.3_Missense_Mutation_p.D94A|C1QTNF1_uc002jwr.4_Missense_Mutation_p.D186A|C1QTNF1_uc002jws.3_Missense_Mutation_p.D176A	NM_198594	NP_940996	Q9BXJ1	C1QT1_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 1 (C1QTNF1), mRNA.	176	C1q.					collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			AACCTCTACGACCACTTCAAC	0.562													64	115					0	0	1	0	0	C	77043851	A	C	77043851	3	2	283	1	0	0	0	0	1	0	0	0	1962	275	10	5	537	5	C1QTNF1	17	77043851	Missense_Mutation	SNP	A	TCGA-P5-A5F1-01A-11D-A289-08	41498491	77043851	4151359	16	12217											
ZNF260	339324	broad.mit.edu	37	chr19	37005409	37005409	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacacgtataaggtttctcTcctgtgtgacttctctggtg	6	17	9	9	1	2	1	0	1	2	0	5	1	3	1	1	2	1	2	1	2	3	5			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr19:37005409T>C	uc002oee.2	-	3	1654	c.732A>G	c.(730-732)ggA>ggG	p.G244G	ZNF260_uc010eey.2_Silent_p.G244G|ZNF260_uc002oef.2_Silent_p.G244G|ZNF260_uc002oed.2_Silent_p.G244G|ZNF260_uc021uti.1_Silent_p.G244G	NM_001012756	NP_001159510	Q3ZCT1	ZN260_HUMAN	Homo sapiens zinc finger protein 260 (ZNF260), transcript variant 1, mRNA.	244					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					AAGGTTTCTCTCCTGTGTGAC	0.413													32	67					0	0	1	0	0	C	37005409	T	C	37005409	2	2	283	1	0	0	0	0	0	0	0	1	17799	1538	54	4		4	ZNF260	19	37005409	Silent	SNP	T	TCGA-P5-A5F1-01A-11D-A289-08		37005409	22123574	17	12218											
PEG3	5178	broad.mit.edu	37	chr19	57325168	57325168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgtgctggtgctggcacGttcgatgtagcctgagcact	6	11	13	11	2	0	1	0	1	0	0	1	2	0	1	2	2	4	6	2	2	1	2			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr19:57325168G>A	uc002qnu.2	-	6	4993	c.4642C>T	c.(4642-4644)Cgt>Tgt	p.R1548C	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.R1519C|PEG3_uc002qnv.2_Missense_Mutation_p.R1548C|PEG3_uc002qnw.2_Missense_Mutation_p.R1424C|PEG3_uc002qnx.2_Missense_Mutation_p.R1422C|PEG3_uc010etr.2_Missense_Mutation_p.R1548C	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1548					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R1548H(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTGCTGGCACGTTCGATGTAG	0.522													20	75					0	0	1	0	0	A	57325168	G	A	57325168	3	1	283	1	0	0	0	0	1	0	0	0	11720	1145	40	1	128	1	PEG3	19	57325168	Missense_Mutation	SNP	G	TCGA-P5-A5F1-01A-11D-A289-08	20319759	57325168	1803815	18	12219											
C21orf59	56683	broad.mit.edu	37	chr21	33954533	33954533	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgcgattcttgccccgCgtgtggggacgctgcagatt	5	11	15	10	4	1	1	0	0	1	1	1	3	1	2	2	2	3	2	2	2	0	3			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr21:33954533C>T	uc002ypy.2	-	6	1320	c.955G>A	c.(955-957)Gcg>Acg	p.A319T	C21orf59_uc002ypw.4_Missense_Mutation_p.A113T|C21orf59_uc002ypx.1_Missense_Mutation_p.A136T|C21orf59_uc002ypz.2_Missense_Mutation_p.A287T	NM_021254	NP_067077	P57076	CU059_HUMAN	Homo sapiens chromosome 21 open reading frame 59 (C21orf59), transcript variant 1, mRNA.	0						cytosol|nucleus				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						TCTTGCCCCGCGTGTGGGGAC	0.498													57	112					0	0	1	0	0	T	33954533	C	T	33954533	3	4	283	1	0	0	0	0	1	0	0	0	2130	768	27	1		1	C21orf59	21	33954533	Missense_Mutation	SNP	C	TCGA-P5-A5F1-01A-11D-A289-08		33954533	14175362	19	12220											
ATRX	546	broad.mit.edu	37	chrX	76938788	76938788	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttacacgtggggatcttcGaagatcagattcctctaaaa	12	12	8	9	2	3	2	1	0	2	2	5	4	4	3	1	2	1	0	1	2	4	5			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chrX:76938788G>A	uc004ecp.4	-	8	2192	c.1960C>T	c.(1960-1962)Cga>Tga	p.R654*	ATRX_uc004ecq.4_Nonsense_Mutation_p.R616*|ATRX_uc004eco.4_Nonsense_Mutation_p.R439*|ATRX_uc004ecr.2_Nonsense_Mutation_p.R586*|ATRX_uc010nlx.1_Nonsense_Mutation_p.R625*|ATRX_uc010nly.1_Nonsense_Mutation_p.R599*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	654					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GGGGATCTTCGAAGATCAGAT	0.393			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						88	40					0	0	1	0	0	A	76938788	G	A	76938788	4	1	283	1	0	0	0	0	0	1	0	0	1208	1066	37	2	5626	2	ATRX	23	76938788	Nonsense_Mutation	SNP	G	TCGA-P5-A5F1-01A-11D-A289-08		76938788	78331772	20	12221											
PADI2	11240	broad.mit.edu	37	chr1	17418910	17418910	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggatcactcactctccacGtagaacacgcccactttgtc	9	10	7	15	2	3	1	2	0	1	1	5	2	3	2	2	1	1	1	2	1	2	2			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr1:17418910G>A	uc001baf.3	-	5	730	c.648C>T	c.(646-648)taC>taT	p.Y216Y	PADI2_uc010ocm.2_Intron|PADI2_uc001bag.1_Silent_p.Y216Y	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA.	216					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CACTCTCCACGTAGAACACGC	0.577													28	41					0	0	1	0	0	A	17418910	G	A	17418910	2	1	284	1	0	0	0	0	0	0	0	1	11378	1140	40	1		1	PADI2	1	17418910	Silent	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08		17418910	231831711	1	12222											
KTI12	112970	broad.mit.edu	37	chr1	52499413	52499413	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgccgctgtacggcagcccGcaaaacaccacgagcggcat	10	5	11	15	5	0	0	0	0	0	0	0	1	0	0	3	2	5	5	3	2	3	2			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr1:52499413G>A	uc001ctj.1	-	0	60	c.21C>T	c.(19-21)tgC>tgT	p.C7C	TXNDC12_uc001cti.3_Intron	NM_138417	NP_612426	Q96EK9	KTI12_HUMAN	Homo sapiens KTI12 homolog, chromatin associated (S. cerevisiae) (KTI12), mRNA.	7							ATP binding			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						ACGGCAGCCCGCAAAACACCA	0.672													3	26					0	0	1	0	0	A	52499413	G	A	52499413	2	1	284	1	0	0	0	0	0	0	0	1	8584	1079	38	1		1	KTI12	1	52499413	Silent	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	35080503	52499413	196751208	2	12223											
ARHGEF2	9181	broad.mit.edu	37	chr1	155920805	155920805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgggcctgctcactctcccGgagccgggcctccaggctgc	3	6	13	19	3	2	0	1	0	1	0	4	1	3	1	6	4	3	2	6	4	0	0			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr1:155920805G>A	uc001fmu.2	-	23	2905	c.2650C>T	c.(2650-2652)Cgg>Tgg	p.R884W	ARHGEF2_uc001fmq.2_Missense_Mutation_p.R78W|ARHGEF2_uc001fmr.2_Missense_Mutation_p.R812W|ARHGEF2_uc001fms.2_Missense_Mutation_p.R839W|ARHGEF2_uc001fmt.2_Missense_Mutation_p.R840W	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.	840					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCACTCTCCCGGAGCCGGGCC	0.706													17	15					0	0	1	0	0	A	155920805	G	A	155920805	3	1	284	1	0	0	0	0	1	0	0	0	903	1115	39	2	454	2	ARHGEF2	1	155920805	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	103421392	155920805	93329816	3	12224											
IL1RL1	9173	broad.mit.edu	37	chr2	102968090	102968090	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacaataaggagtttgcctaCgagcaggaggttgccctgca	11	8	12	10	1	0	0	0	0	0	0	0	3	0	2	2	3	5	4	2	3	3	4	rs112596146		TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr2:102968090C>T	uc002tbu.1	+	10	1651	c.1380C>T	c.(1378-1380)taC>taT	p.Y460Y	IL18R1_uc002tbw.4_Intron	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	460	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	p.Y460Y(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						AGTTTGCCTACGAGCAGGAGG	0.527													32	57					0	0	1	0	0	T	102968090	C	T	102968090	2	4	284	1	0	0	0	0	0	0	0	1	7663	547	19	1		1	IL1RL1	2	102968090	Silent	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08		102968090	140231283	4	12225											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								23	37					0	0	1	0	0	T	209113112	C	T	209113112	3	4	284	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08	106145022	209113112	34086261	5	12226											
OBSL1	23363	broad.mit.edu	37	chr2	220432495	220432495	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggctaaaggtgacctcGccagcatcctctcgggtgac	8	7	11	15	2	1	2	0	2	1	0	4	2	2	2	4	3	1	2	4	3	2	1			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr2:220432495G>A	uc010fwk.3	-	2	1793	c.1479C>T	c.(1477-1479)ggC>ggT	p.G493G	OBSL1_uc010fwl.2_Silent_p.G493G|OBSL1_uc002vmi.3_Silent_p.G493G	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	493					cardiac myofibril assembly	M band|Z disc|intercalated disc|perinuclear region of cytoplasm	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		AGGTGACCTCGCCAGCATCCT	0.627													4	88					0	0	1	0	0	A	220432495	G	A	220432495	2	1	284	1	0	0	0	0	0	0	0	1	10813	1074	38	1		1	OBSL1	2	220432495	Silent	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	11319383	220432495	22766878	6	12227											
HDAC4	9759	broad.mit.edu	37	chr2	240111713	240111713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagaactggtggtccaggCgcaggtccatgggcactgcc	7	7	16	11	1	0	1	0	1	0	1	2	2	2	1	3	5	2	2	3	5	1	0			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr2:240111713C>T	uc002vyk.4	-	3	947	c.155G>A	c.(154-156)cGc>cAc	p.R52H	HDAC4_uc010fyz.1_Missense_Mutation_p.R47H|HDAC4_uc010zoa.1_Missense_Mutation_p.R47H|HDAC4_uc010fza.2_Missense_Mutation_p.R52H|HDAC4_uc010fyy.3_Missense_Mutation_p.R4H	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	52					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GTGGTCCAGGCGCAGGTCCAT	0.667													7	59					0	0	1	0	0	T	240111713	C	T	240111713	3	4	284	1	0	0	0	0	1	0	0	0	7009	768	27	1	3195	1	HDAC4	2	240111713	Missense_Mutation	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08	19679218	240111713	3087660	7	12228											
DPPA2	151871	broad.mit.edu	37	chr3	109023364	109023364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatattatcttctatgcctGgggatgggaaaatgcaggca	12	11	11	7	0	2	0	0	0	2	0	2	2	2	2	1	4	2	2	1	4	5	4			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr3:109023364G>A	uc003dxo.3	-	6	1059	c.812C>T	c.(811-813)cCa>cTa	p.P271L		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	271						nucleus	nucleic acid binding	p.S270F(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTCTATGCCTGGGGATGGGAA	0.473													41	45					0	0	1	0	0	A	109023364	G	A	109023364	3	1	284	1	0	0	0	0	1	0	0	0	4734	1348	47	3	92	3	DPPA2	3	109023364	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08		109023364	88999066	8	12229											
SERPINI1	5274	broad.mit.edu	37	chr3	167508340	167508340	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatgtggacttcagtcaaaAtgtagccgtggccaactaca	12	10	9	10	1	3	0	3	0	0	0	3	1	3	1	2	2	3	1	2	2	5	3			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr3:167508340A>G	uc003ffa.4	+	2	629	c.431A>G	c.(430-432)aAt>aGt	p.N144S	SERPINI1_uc003ffb.4_Missense_Mutation_p.N144S	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	144					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TTCAGTCAAAATGTAGCCGTG	0.363													12	55					0	0	1	0	0	G	167508340	A	G	167508340	3	3	284	1	0	0	0	0	1	0	0	0	14118	101	4	3	437	3	SERPINI1	3	167508340	Missense_Mutation	SNP	A	TCGA-P5-A5F2-01A-11D-A289-08	58484976	167508340	30514090	9	12230											
PPARGC1A	10891	broad.mit.edu	37	chr4	23830190	23830190	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtggcttttgctgttgaCaaatactcttcgctttattg	6	20	8	7	1	1	1	0	1	1	0	2	1	1	1	0	1	2	4	0	1	3	9			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr4:23830190C>T	uc003gqs.3	-	4	710	c.590G>A	c.(589-591)tGt>tAt	p.C197Y	PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA.	197					RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTGCTGTTGACAAATACTCTT	0.408													40	94					0	0	1	0	0	T	23830190	C	T	23830190	3	4	284	1	0	0	0	0	1	0	0	0	12300	478	17	3	1842	3	PPARGC1A	4	23830190	Missense_Mutation	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08		23830190	167324086	10	12231											
NR3C2	4306	broad.mit.edu	37	chr4	149075976	149075976	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctttgcgggggtgggggTgggggtgggggctgctgctg	0	9	27	5	1	0	0	0	0	0	0	0	0	0	0	0	9	3	4	0	9	0	1			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr4:149075976T>G	uc003ilj.4	-	4	2454	c.2091A>C	c.(2089-2091)ccA>ccC	p.P697P	NR3C2_uc003ilk.4_Intron|NR3C2_uc010iph.3_Intron	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	697	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527													5	4					0	0	1	0	0	G	149075976	T	G	149075976	2	3	284	1	0	0	0	0	0	0	0	1	10631	1683	59	5		5	NR3C2	4	149075976	Silent	SNP	T	TCGA-P5-A5F2-01A-11D-A289-08	125245786	149075976	42078300	11	12232											
GALNTL6	442117	broad.mit.edu	37	chr4	173873279	173873279	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcatctctccacgggggAcatctctgcccagaaggagc	9	6	12	14	1	2	1	0	0	2	1	5	3	3	3	2	4	2	1	2	4	1	0			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr4:173873279A>G	uc003isv.3	+	9	1977	c.1241A>G	c.(1240-1242)gAc>gGc	p.D414G		NM_001034845	NP_001030017	Q49A17	GLTL6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6 (GALNTL6), mRNA.	414						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TCCACGGGGGACATCTCTGCC	0.567													37	80					0	0	1	0	0	G	173873279	A	G	173873279	3	3	284	1	0	0	0	0	1	0	0	0	6225	275	10	3	1275	3	GALNTL6	4	173873279	Missense_Mutation	SNP	A	TCGA-P5-A5F2-01A-11D-A289-08	24797303	173873279	17280997	12	12233											
PCDHGC5	56097	broad.mit.edu	37	chr5	140719479	140719479	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattatgaggatgctacatTccatgaaattgatattgaag	15	13	9	4	0	0	5	0	4	0	1	1	6	1	6	1	1	2	1	1	1	5	6			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr5:140719479T>A	uc003ljk.2	+	0	1126	c.941T>A	c.(940-942)tTc>tAc	p.F314Y	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.F314Y	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	315	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGCTACATTCCATGAAATT	0.428													17	269					0	0	1	0	0	A	140719479	T	A	140719479	3	1	284	1	0	0	0	0	1	0	0	0	11571	1783	62	5		5	PCDHGC5	5	140719479	Missense_Mutation	SNP	T	TCGA-P5-A5F2-01A-11D-A289-08		140719479	40195781	13	12234											
IRF4	3662	broad.mit.edu	37	chr6	407544	407544	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacgatttaccagaacacatCagcaatccagaagattacca	17	8	5	11	1	1	3	1	0	0	3	2	4	2	3	3	0	5	1	3	0	6	4			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr6:407544C>T	uc003msz.4	+	8	1428	c.1302C>T	c.(1300-1302)atC>atT	p.I434I	IRF4_uc003mtb.4_Silent_p.I433I|IRF4_uc021ykl.1_Silent_p.I280I|IRF4_uc003mta.4_Non-coding_Transcript	NM_002460	NP_002451	Q15306	IRF4_HUMAN	Homo sapiens interferon regulatory factor 4 (IRF4), transcript variant 1, mRNA.	434					T cell activation|interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CAGAACACATCAGCAATCCAG	0.358			T	IGH@	MM								17	54					0	0	1	0	0	T	407544	C	T	407544	2	4	284	1	0	0	0	0	0	0	0	1	7832	816	29	3		3	IRF4	6	407544	Silent	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08		407544	170707523	14	12235											
STK19	8859	broad.mit.edu	37	chr6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A																															attcagcgacagtggcgggcINSaaacccctcccggggcgggg																										TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr6:31939829_31939830insA	uc003nyv.3	+	0	184_185	c.56_57insA	c.(55-57)gcafs	p.A19fs	DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.3_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.2_Frame_Shift_Ins_p.A19fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.3_Frame_Shift_Ins_p.A19fs|STK19_uc010jtn.1_5'Flank	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	19						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													9	205	---	---	---	---						A	31939830	-	A	31939829	7	5	284	1	0	1	1	0	0	0	0	0	15291	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-P5-A5F2-01A-11D-A289-08	31532285	31939829	139175238	15	12236											
FKBP5	2289	broad.mit.edu	37	chr6	35547956	35547956	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccatctctaaccaggacaCtatcttcccatactgaatca	12	12	3	14	0	3	1	1	1	2	0	6	2	5	2	3	1	2	0	3	1	4	5			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr6:35547956C>A	uc011dte.1	-	8	1086	c.883G>T	c.(883-885)Gtg>Ttg	p.V295L	FKBP5_uc003okx.2_Missense_Mutation_p.V295L|FKBP5_uc011dtf.1_Missense_Mutation_p.V116L|FKBP5_uc003oky.2_Missense_Mutation_p.V295L	NM_001145776	NP_004108	Q13451	FKBP5_HUMAN	Homo sapiens FK506 binding protein 5 (FKBP5), transcript variant 3, mRNA.	295					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						AACCAGGACACTATCTTCCCA	0.433													26	152					6.32553e-13	6.65845e-13	1	1	0	A	35547956	C	A	35547956	3	1	284	1	0	0	0	0	1	0	0	0	5911	565	20	5	502	5	FKBP5	6	35547956	Missense_Mutation	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08	3608127	35547956	135567111	16	12237											
PCLO	27445	broad.mit.edu	37	chr7	82545175	82545175	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aattaggacataatttcgtgGagtatggtgatcaatatctg	13	14	10	4	1	2	1	1	1	1	0	3	3	2	3	0	3	0	1	0	3	6	5			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr7:82545175G>A	uc003uhx.2	-	6	12416	c.12127C>T	c.(12127-12129)Cca>Tca	p.P4043S	PCLO_uc003uhv.2_Missense_Mutation_p.P4043S|PCLO_uc010lec.3_Missense_Mutation_p.P1008S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3974					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TAATTTCGTGGAGTATGGTGA	0.408													6	58					0	0	1	0	0	A	82545175	G	A	82545175	3	1	284	1	0	0	0	0	1	0	0	0	11583	1174	41	3	3394	3	PCLO	7	82545175	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08		82545175	76593488	17	12238											
FAM129B	64855	broad.mit.edu	37	chr9	130293979	130293979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgccctcaatctcatggCgcatgctgttgaagagagcc	8	9	11	13	2	2	2	2	1	1	1	3	3	2	2	3	1	3	3	3	1	2	1			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr9:130293979C>T	uc004brh.3	-	1	336	c.134G>A	c.(133-135)cGc>cAc	p.R45H	FAM129B_uc004bri.3_Missense_Mutation_p.R32H|FAM129B_uc004brj.4_Missense_Mutation_p.R45H	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA.	45							protein binding	p.R45H(2)|p.M44I(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AATCTCATGGCGCATGCTGTT	0.577													22	104					0	0	1	0	0	T	130293979	C	T	130293979	3	4	284	1	0	0	0	0	1	0	0	0	5437	768	27	1	2158	1	FAM129B	9	130293979	Missense_Mutation	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08		130293979	10919452	18	12239											
NOTCH1	4851	broad.mit.edu	37	chr9	139396809	139396809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagccctcagggaaccagaGctggccatgctgccgccggc	8	4	14	15	2	1	1	1	0	0	1	1	3	1	2	5	3	5	2	5	3	2	0			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr9:139396809G>A	uc004chz.3	-	27	5299	c.5299C>T	c.(5299-5301)Ctc>Ttc	p.L1767F		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	1767					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGGAACCAGAGCTGGCCATGC	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			9	58					0	0	1	0	0	A	139396809	G	A	139396809	3	1	284	1	0	0	0	0	1	0	0	0	10547	971	34	3	2396	3	NOTCH1	9	139396809	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	9102830	139396809	1816622	19	12240											
PTPRE	5791	broad.mit.edu	37	chr10	129869084	129869084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcagaaattgacaaatGtccggatcatgaaggagaac	15	8	11	7	1	1	4	1	2	0	2	2	6	2	5	1	2	3	2	1	2	4	1			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr10:129869084G>A	uc009yat.3	+	15	1756	c.1339G>A	c.(1339-1341)Gtc>Atc	p.V447I	PTPRE_uc001lkb.3_Missense_Mutation_p.V436I|PTPRE_uc009yau.2_Missense_Mutation_p.V436I|PTPRE_uc001lkd.3_Missense_Mutation_p.V378I|PTPRE_uc010quq.1_Missense_Mutation_p.V337I	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	436	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				ATTGACAAATGTCCGGATCAT	0.522													10	35					0	0	1	0	0	A	129869084	G	A	129869084	3	1	284	1	0	0	0	0	1	0	0	0	12800	1377	48	3	1395	3	PTPRE	10	129869084	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08		129869084	5665663	20	12241											
MRPL17	63875	broad.mit.edu	37	chr11	6704527	6704527	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcgaccgacagccgcaTgtttccaacttctgcccgcc	7	8	9	17	4	1	0	0	0	1	0	2	2	2	0	5	0	5	3	5	0	1	2	rs140275479		TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr11:6704527T>C	uc001men.2	-	0	106	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_022061	NP_071344	Q9NRX2	RM17_HUMAN	Homo sapiens mitochondrial ribosomal protein L17 (MRPL17), nuclear gene encoding mitochondrial protein, mRNA.	1					translation	ribosome	protein domain specific binding|structural constituent of ribosome			lung(4)	4		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GACAGCCGCATGTTTCCAACT	0.622											OREG0020719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	27					0	0	1	0	0	C	6704527	T	C	6704527	3	2	284	1	0	0	0	0	1	0	0	0	9782	1464	51	3	538	3	MRPL17	11	6704527	Missense_Mutation	SNP	T	TCGA-P5-A5F2-01A-11D-A289-08		6704527	128301989	21	12242											
OR5T3	390154	broad.mit.edu	37	chr11	56020474	56020474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgctaagggaaggcaaaagGccttctctacatgtggctct	10	10	11	10	0	2	0	0	0	2	0	3	1	2	1	1	4	2	3	1	4	5	3			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr11:56020474G>A	uc010rjd.2	+	0	799	c.799G>A	c.(799-801)Gcc>Acc	p.A267T		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					AAGGCAAAAGGCCTTCTCTAC	0.423													27	135					0	0	1	0	0	A	56020474	G	A	56020474	3	1	284	1	0	0	0	0	1	0	0	0	11183	1203	42	3	801	3	OR5T3	11	56020474	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	49315947	56020474	78986042	22	12243											
OR8G2	26492	broad.mit.edu	37	chr11	124095528	124095528	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgcctcttcctcctgtTcttaggaatctatgtggtca	5	15	9	12	1	4	0	1	0	3	0	6	1	6	1	3	2	1	2	3	2	3	4			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr11:124095528T>C	uc010saf.2	+	0	131	c.131T>C	c.(130-132)tTc>tCc	p.F44S		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	44						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		TTCCTCCTGTTCTTAGGAATC	0.502													24	153					0	0	1	0	0	C	124095528	T	C	124095528	3	2	284	1	0	0	0	0	1	0	0	0	11235	1783	62	3	133	3	OR8G2	11	124095528	Missense_Mutation	SNP	T	TCGA-P5-A5F2-01A-11D-A289-08	68075054	124095528	10910988	23	12244											
ROBO3	64221	broad.mit.edu	37	chr11	124745490	124745491	+	Frame_Shift_Ins	INS	-	-	G																															cccccacagggagtggcggtINSggccttggggggtgatggca																								rs140619532	by1000genomes	TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr11:124745490_124745491insG	uc001qbc.3	+	14	2499_2500	c.2330_2331insG	c.(2329-2331)gtgfs	p.V777fs	ROBO3_uc010saq.2_5'Flank|ROBO3_uc001qbd.2_5'Flank|ROBO3_uc010sar.2_5'Flank|ROBO3_uc001qbe.3_5'Flank|ROBO3_uc001qbf.1_5'Flank	NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	777	Fibronectin type-III 3.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GGAGTGGCGGTGGCCTTGGGGG	0.604													8	40	---	---	---	---						G	124745491	-	G	124745490	7	5	284	1	0	1	1	0	0	0	0	0	13515	1696	59	0	2388	0	ROBO3	11	124745490	Frame_Shift_Ins	INS	-	TCGA-P5-A5F2-01A-11D-A289-08	649962	124745490	10261026	24	12245											
GLB1L3	112937	broad.mit.edu	37	chr11	134147259	134147259	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agaatggcgggcatctttttCctgccatttatctcatcagg	8	14	9	10	1	3	1	2	0	2	1	5	1	4	1	2	3	1	1	2	3	2	4			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr11:134147259C>T	uc009zdf.3	+	1	423	c.63C>T	c.(61-63)ttC>ttT	p.F21F	GLB1L3_uc010scs.2_Silent_p.F21F|GLB1L3_uc010sct.2_5'Flank	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	Homo sapiens galactosidase, beta 1-like 3 (GLB1L3), mRNA.	21					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GCATCTTTTTCCTGCCATTTA	0.542													5	45					0	0	1	0	0	T	134147259	C	T	134147259	2	4	284	1	0	0	0	0	0	0	0	1	6430	854	30	3		3	GLB1L3	11	134147259	Silent	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08	9401769	134147259	859257	25	12246											
ETV6	2120	broad.mit.edu	37	chr12	11992227	11992227	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaggactttcgctatcgatCtcctcattcaggtgagagtc	9	12	10	10	2	3	2	2	1	1	2	7	5	3	3	1	2	0	1	1	2	1	3			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr12:11992227C>G	uc001qzz.3	+	2	591	c.317C>G	c.(316-318)tCt>tGt	p.S106C		NM_001987	NP_001978	P41212	ETV6_HUMAN	Homo sapiens ets variant 6 (ETV6), mRNA.	106	PNT.					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R105P(2)|p.R105G(1)|p.Y104fs*14(1)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CGCTATCGATCTCCTCATTCA	0.463			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"								5	78					0	0	1	0	0	G	11992227	C	G	11992227	3	3	284	1	0	0	0	0	1	0	0	0	5283	913	32	5	327	5	ETV6	12	11992227	Missense_Mutation	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08		11992227	121859668	26	12247											
CNOT2	4848	broad.mit.edu	37	chr12	70726595	70726595	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggcatttggaatgaataaCtccttatcaagtaacatttt	14	14	6	7	0	1	1	1	1	0	0	2	2	2	2	1	2	2	2	1	2	6	6			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr12:70726595C>G	uc001svv.3	+	6	1200	c.618C>G	c.(616-618)aaC>aaG	p.N206K	CNOT2_uc009zro.3_Missense_Mutation_p.N206K|CNOT2_uc009zrp.3_Missense_Mutation_p.N186K|CNOT2_uc009zrq.3_Missense_Mutation_p.N206K	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 2 (CNOT2), transcript variant 2, mRNA.	206					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	RNA polymerase II transcription cofactor activity|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GAATGAATAACTCCTTATCAA	0.318													29	60					0	0	1	0	0	G	70726595	C	G	70726595	3	3	284	1	0	0	0	0	1	0	0	0	3619	564	20	5	640	5	CNOT2	12	70726595	Missense_Mutation	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08	58734368	70726595	63125300	27	12248											
PCDH17	27253	broad.mit.edu	37	chr13	58207144	58207144	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccgcttccccctcaccaGcgcacatgaccccgacgccg	7	4	7	23	5	1	1	1	1	0	0	2	2	2	1	7	0	1	2	7	0	0	1			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr13:58207144G>C	uc001vhq.1	+	0	1356	c.464G>C	c.(463-465)aGc>aCc	p.S155T	PCDH17_uc010aec.1_Missense_Mutation_p.S155T	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	155	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCCCTCACCAGCGCACATGAC	0.642													7	48					0	0	1	0	0	C	58207144	G	C	58207144	3	2	284	1	0	0	0	0	1	0	0	0	11512	971	34	5	466	5	PCDH17	13	58207144	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08		58207144	56962734	28	12249											
SLC12A1	6557	broad.mit.edu	37	chr15	48559802	48559803	+	Frame_Shift_Ins	INS	-	-	A																															agatgaacagtggcatggcgINSaaaaaacaggcctggcttat																								rs150609105	byFrequency	TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr15:48559802_48559803insA	uc001zwn.4	+	17	2415_2416	c.2199_2200insA	c.(2197-2202)gcgaaafs	p.A733fs	SLC12A1_uc010uew.1_Frame_Shift_Ins_p.A539fs|SLC12A1_uc010bem.3_Frame_Shift_Ins_p.A733fs|SLC12A1_uc001zwq.4_Frame_Shift_Ins_p.A504fs|SLC12A1_uc001zwr.4_Frame_Shift_Ins_p.A460fs	NM_000338	NP_000329	Q13621	S12A1_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	733					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GTGGCATGGCGAAAAAACAGGC	0.446													7	103	---	---	---	---						A	48559803	-	A	48559802	7	5	284	1	0	1	1	0	0	0	0	0	14382	1045	37	0	2365	0	SLC12A1	15	48559802	Frame_Shift_Ins	INS	-	TCGA-P5-A5F2-01A-11D-A289-08		48559802	53971590	29	12250											
SLC12A3	6559	broad.mit.edu	37	chr16	56921899	56921899	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttcaagaagaactggcaGtcggctcacccggccacagt	10	6	13	12	2	2	2	2	0	0	2	3	2	2	2	2	4	1	3	2	4	3	1			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr16:56921899G>A	uc002ekd.4	+	17	2270	c.2241G>A	c.(2239-2241)caG>caA	p.Q747Q	SLC12A3_uc010ccm.3_Silent_p.Q747Q|SLC12A3_uc010ccn.3_Silent_p.Q746Q	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	747					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	AGAACTGGCAGTCGGCTCACC	0.587													11	100					0	0	1	0	0	A	56921899	G	A	56921899	2	1	284	1	0	0	0	0	0	0	0	1	14384	1020	36	3		3	SLC12A3	16	56921899	Silent	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08		56921899	33432854	30	12251											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			28	12					0	0	1	0	0	A	7577121	G	A	7577121	3	1	284	1	0	0	0	0	1	0	0	0	16378	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08		7577121	73618089	31	12252											
RHOT1	55288	broad.mit.edu	37	chr17	30503008	30503008	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatctgtatagtgtatgccGttaacaacaagcattctatt	12	15	6	8	1	3	0	1	0	2	0	3	0	3	0	1	0	4	4	1	0	7	7			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr17:30503008G>A	uc002hgw.3	+	4	489	c.250G>A	c.(250-252)Gtt>Att	p.V84I	RHOT1_uc002hgy.3_Missense_Mutation_p.V84I|RHOT1_uc002hgz.3_Missense_Mutation_p.V84I|RHOT1_uc002hha.3_5'UTR|RHOT1_uc010csv.3_Non-coding_Transcript|RHOT1_uc002hgx.3_5'UTR|RHOT1_uc010wby.2_Missense_Mutation_p.V84I|RHOT1_uc002hhb.3_Missense_Mutation_p.V63I|RHOT1_uc002hgv.3_Missense_Mutation_p.V84I	NM_001033568	NP_001028740	Q8IXI2	MIRO1_HUMAN	Homo sapiens ras homolog gene family, member T1 (RHOT1), transcript variant 1, mRNA.	84	Miro 1.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	GTP binding|GTPase activity|calcium ion binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				AGTGTATGCCGTTAACAACAA	0.308													3	22					0	0	1	0	0	A	30503008	G	A	30503008	3	1	284	1	0	0	0	0	1	0	0	0	13343	1145	40	1	268	1	RHOT1	17	30503008	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	22925887	30503008	50692202	32	12253											
MPO	4353	broad.mit.edu	37	chr17	56355276	56355276	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagggcagcagggcccggccGttgtcttggaagcgctggtt	6	8	17	10	3	1	0	0	0	1	0	1	1	1	1	2	5	2	5	2	5	2	3			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr17:56355276G>A	uc002ivu.1	-	6	1293	c.1116C>T	c.(1114-1116)aaC>aaT	p.N372N		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	372					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)	GGGCCCGGCCGTTGTCTTGGA	0.652													41	55					0	0	1	0	0	A	56355276	G	A	56355276	2	1	284	1	0	0	0	0	0	0	0	1	9732	1136	40	1		1	MPO	17	56355276	Silent	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	25852268	56355276	24839934	33	12254											
SCN4A	6329	broad.mit.edu	37	chr17	62036690	62036690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctagctctaccaggctgaGggtgacgatgatgctgtcga	8	9	14	10	2	1	3	0	3	1	0	2	5	1	3	2	2	3	3	2	2	2	2			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr17:62036690G>A	uc002jds.1	-	11	2031	c.1954C>T	c.(1954-1956)Ctc>Ttc	p.L652F		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	652					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	ACCAGGCTGAGGGTGACGATG	0.562													13	52					0	0	1	0	0	A	62036690	G	A	62036690	3	1	284	1	0	0	0	0	1	0	0	0	13920	1000	35	3	3608	3	SCN4A	17	62036690	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	5681414	62036690	19158520	34	12255											
IL27RA	9466	broad.mit.edu	37	chr19	14157389	14157389	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccctggagaaactcaactGggtccggcttccccctggga	7	7	11	16	1	1	1	1	0	0	1	3	3	3	2	5	4	2	1	5	4	2	1			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr19:14157389G>A	uc002mxx.3	+	7	1523	c.1100G>A	c.(1099-1101)tGg>tAg	p.W367*		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA.	367	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						AAACTCAACTGGGTCCGGCTT	0.632													60	119					0	0	1	0	0	A	14157389	G	A	14157389	4	1	284	1	0	0	0	0	0	1	0	0	7681	1357	47	3	1130	3	IL27RA	19	14157389	Nonsense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08		14157389	44971594	35	12256											
IFNAR1	3454	broad.mit.edu	37	chr21	34717551	34717551	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatctgttctttggcttctaGttgaaaatgaactacctcca	10	16	6	9	0	3	2	0	2	3	0	4	2	4	2	2	1	2	3	2	1	6	7			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr21:34717551G>C	uc002yrn.3	+	6	821	c.674_splice	c.e6-1	p.V225_splice	IFNAR1_uc011adv.2_Splice_Site_p.V156_splice	NM_000629	NP_000620	P17181	INAR1_HUMAN	Homo sapiens interferon (alpha, beta and omega) receptor 1 (IFNAR1), mRNA.	225					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TTGGCTTCTAGTTGAAAATGA	0.328													5	29					0	0	1	0	0	C	34717551	G	C	34717551	5	2	284	1	0	0	0	0	0	0	1	0	7544	1043	36	5	695	5	IFNAR1	21	34717551	Splice_Site	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08		34717551	13412344	36	12257											
PHF16	9767	broad.mit.edu	37	chrX	46887419	46887419	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatagagtatgatgaagatGtgatctgtgatgtgtgccgg	10	12	15	4	1	1	6	0	4	1	2	1	6	1	6	1	1	1	2	1	1	3	2			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chrX:46887419G>A	uc004dgx.3	+	5	652	c.601G>A	c.(601-603)Gtg>Atg	p.V201M	PHF16_uc004dgy.3_Missense_Mutation_p.V201M	NM_001077445	NP_055550	Q92613	JADE3_HUMAN	Homo sapiens PHD finger protein 16 (PHF16), transcript variant 2, mRNA.	201					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						TGATGAAGATGTGATCTGTGA	0.448													27	61					0	0	1	0	0	A	46887419	G	A	46887419	3	1	284	1	0	0	0	0	1	0	0	0	11827	1377	48	3	619	3	PHF16	23	46887419	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08		46887419	108383141	37	12258											
ATRX	546	broad.mit.edu	37	chrX	76920192	76920193	+	Frame_Shift_Ins	INS	-	-	TCATCAT																															tttttttcccttcttctggcINStcatcatctgaagatccatc																										TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chrX:76920192_76920193insTCATCAT	uc004ecp.4	-	10	4116_4117	c.3884_3885insATGATGA	c.(3883-3885)gagfs	p.E1295fs	ATRX_uc004ecq.4_Frame_Shift_Ins_p.E1257fs|ATRX_uc004eco.4_Frame_Shift_Ins_p.E1080fs|ATRX_uc004ecr.2_Frame_Shift_Ins_p.E1227fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1295					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTTCTTCTGGCTCATCATCTGA	0.351			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						27	72	---	---	---	---						TCATCAT	76920193	-	TCATCAT	76920192	7	5	284	1	0	1	1	0	0	0	0	0	1208	796	28	0	3693	0	ATRX	23	76920192	Frame_Shift_Ins	INS	-	TCGA-P5-A5F2-01A-11D-A289-08	30032773	76920192	78350368	38	12259											
GUCY2F	2986	broad.mit.edu	37	chrX	108718947	108718947	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggctaatcgcgcagcaacCtcaggcagggcctttgaaaa	12	7	11	11	2	1	1	1	1	0	0	2	1	1	1	2	3	2	4	2	3	4	2			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chrX:108718947C>A	uc022cch.1	-	0	304	c.219G>T	c.(217-219)gaG>gaT	p.E73D	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.E73D	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	73					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GCGCAGCAACCTCAGGCAGGG	0.517											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	197					2.31682e-05	2.39671e-05	1	1	0	A	108718947	C	A	108718947	3	1	284	1	0	0	0	0	1	0	0	0	6898	680	24	5	3179	5	GUCY2F	23	108718947	Missense_Mutation	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08	31798755	108718947	46551613	39	12260											
DQX1	165545	broad.mit.edu	37	chr2	74750021	74750021	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacactcccctggctctgcaAtctgtctcctttttagtagt	6	15	7	13	0	3	0	0	0	3	0	5	1	4	0	3	1	1	3	3	1	3	4			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr2:74750021A>G	uc010yrw.2	-	6	1430	c.1265T>C	c.(1264-1266)aTt>aCt	p.I422T	DQX1_uc002smc.3_5'UTR	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	Homo sapiens DEAQ box RNA-dependent ATPase 1 (DQX1), mRNA.	422	Helicase C-terminal.					nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						TGGCTCTGCAATCTGTCTCCT	0.522													53	79					0	0	1	0	0	G	74750021	A	G	74750021	3	3	285	1	0	0	0	0	1	0	0	0	4751	101	4	3	912	3	DQX1	2	74750021	Missense_Mutation	SNP	A	TCGA-P5-A5F4-01A-11D-A289-08		74750021	168449352	1	12261											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr2:209113113G>A	uc002vcs.3	-	3	640	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_uc002vct.3_Missense_Mutation_p.R132C|IDH1_uc002vcu.3_Missense_Mutation_p.R132C	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								19	42					0	0	1	0	0	A	209113113	G	A	209113113	3	1	285	1	0	0	0	0	1	0	0	0	7494	1058	37	2	878	2	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08	134363092	209113113	34086260	2	12262											
STT3B	201595	broad.mit.edu	37	chr3	31638330	31638330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcagttttttggacaatgtGctgctgcttatcctatttct	6	19	8	8	0	2	0	1	0	1	0	3	1	3	1	1	1	3	4	1	1	3	6			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr3:31638330G>A	uc011axe.2	+	3	752	c.752G>A	c.(751-753)tGc>tAc	p.C251Y	STT3B_uc003cer.1_Missense_Mutation_p.C251Y|STT3B_uc010hft.1_Missense_Mutation_p.C251Y	NM_178862	NP_849193	Q8TCJ2	STT3B_HUMAN	Homo sapiens STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae) (STT3B), mRNA.	251					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TGGACAATGTGCTGCTGCTTA	0.318													5	62					0	0	1	0	0	A	31638330	G	A	31638330	3	1	285	1	0	0	0	0	1	0	0	0	15333	1319	46	3	766	3	STT3B	3	31638330	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08		31638330	166384100	3	12263											
GATA2	2624	broad.mit.edu	37	chr3	128202816	128202816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccgccagagaggggtggCtgtggccccacagttgacac	7	5	15	14	2	0	2	0	1	0	1	0	3	0	2	5	4	0	2	5	4	0	1			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr3:128202816C>T	uc003ekm.3	-	4	1339	c.904G>A	c.(904-906)Gcc>Acc	p.A302T	GATA2_uc003ekn.3_Missense_Mutation_p.A302T|GATA2_uc003eko.2_Missense_Mutation_p.A302T	NM_001145661	NP_116027	P23769	GATA2_HUMAN	Homo sapiens GATA binding protein 2 (GATA2), transcript variant 1, mRNA.	302					blood coagulation|negative regulation of Notch signaling pathway|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.A302S(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		AGAGGGGTGGCTGTGGCCCCA	0.642			Mis		AML(CML blast transformation)								5	88					0	0	1	0	0	T	128202816	C	T	128202816	3	4	285	1	0	0	0	0	1	0	0	0	6254	797	28	3	550	3	GATA2	3	128202816	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	96564486	128202816	69819614	4	12264											
SMC4	10051	broad.mit.edu	37	chr3	160122126	160122126	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaaacaggaaggggatgAttatgaagtcattcctaaca	16	9	9	7	0	2	2	2	2	0	0	3	4	3	4	1	3	2	0	1	3	6	3			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr3:160122126A>C	uc003fdh.3	+	4	634	c.521A>C	c.(520-522)gAt>gCt	p.D174A	IFT80_uc003fda.3_Intron|SMC4_uc003fdf.1_Non-coding_Transcript|SMC4_uc003fdg.1_Missense_Mutation_p.D174A|SMC4_uc010hwc.1_Intron|SMC4_uc003fdi.3_Missense_Mutation_p.D149A|SMC4_uc003fdj.3_Missense_Mutation_p.D174A|SMC4_uc010hwd.3_Missense_Mutation_p.D174A|MIR15B_uc011boz.1_5'Flank|MIR16-2_uc003fdk.3_5'Flank	NM_001002800	NP_005487	Q9NTJ3	SMC4_HUMAN	Homo sapiens structural maintenance of chromosomes 4 (SMC4), transcript variant 2, mRNA.	174					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GAAGGGGATGATTATGAAGTC	0.338													6	17					0	0	1	0	0	C	160122126	A	C	160122126	3	2	285	1	0	0	0	0	1	0	0	0	14785	333	12	5	535	5	SMC4	3	160122126	Missense_Mutation	SNP	A	TCGA-P5-A5F4-01A-11D-A289-08	31919310	160122126	37900304	5	12265											
KLHL7	55975	broad.mit.edu	37	chr7	23213883	23213883	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttaatttgtgttgtcgataCttgtggagcaaatgaagaga	12	15	11	3	1	0	2	0	1	0	1	1	5	0	3	0	1	2	2	0	1	4	6			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr7:23213883C>G	uc003svs.4	+	10	2020	c.1727C>G	c.(1726-1728)aCt>aGt	p.T576S	KLHL7_uc003svr.4_Missense_Mutation_p.T554S|KLHL7_uc011jys.2_Missense_Mutation_p.T500S|KLHL7_uc011jyt.2_Missense_Mutation_p.T351S|KLHL7_uc003svt.3_Missense_Mutation_p.T528S|KLHL7_uc011jyv.2_Missense_Mutation_p.T306S	NM_001031710	NP_061334	Q8IXQ5	KLHL7_HUMAN	Homo sapiens kelch-like 7 (Drosophila) (KLHL7), transcript variant 1, mRNA.	576						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTTGTCGATACTTGTGGAGCA	0.408													15	66					0	0	1	0	0	G	23213883	C	G	23213883	3	3	285	1	0	0	0	0	1	0	0	0	8394	565	20	5	1832	5	KLHL7	7	23213883	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08		23213883	135924780	6	12266											
ZNF117	51351	broad.mit.edu	37	chr7	64441776	64441776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcacttacctaaatgtttaGctaccatctcatgtctcttc	9	16	3	13	0	3	0	2	0	2	0	6	0	3	0	2	0	3	2	2	0	5	6			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr7:64441776G>A	uc003ttr.2	-	2	1308	c.23C>T	c.(22-24)gCt>gTt	p.A8V		NM_015852	NP_056936	Q03924	ZN117_HUMAN	Homo sapiens zinc finger protein 117 (ZNF117), mRNA.	8						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TAAATGTTTAGCTACCATCTC	0.423													18	106					0	0	1	0	0	A	64441776	G	A	64441776	3	1	285	1	0	0	0	0	1	0	0	0	17714	971	34	3	1436	3	ZNF117	7	64441776	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08	41227893	64441776	94696887	7	12267											
ZKSCAN1	7586	broad.mit.edu	37	chr7	99631511	99631511	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctggagagaaaccttaTgaatgtaatgagtgcgggaa	14	9	12	6	1	1	3	0	2	1	1	1	6	1	5	1	2	2	1	1	2	5	2			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr7:99631511T>C	uc003usk.1	+	5	1602	c.1383T>C	c.(1381-1383)taT>taC	p.Y461Y	ZKSCAN1_uc003usl.1_Silent_p.Y425Y|ZKSCAN1_uc003usm.1_Silent_p.Y248Y	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 1 (ZKSCAN1), mRNA.	461					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGAAACCTTATGAATGTAATG	0.502													104	153					0	0	1	0	0	C	99631511	T	C	99631511	2	2	285	1	0	0	0	0	0	0	0	1	17683	1471	51	3		3	ZKSCAN1	7	99631511	Silent	SNP	T	TCGA-P5-A5F4-01A-11D-A289-08	35189735	99631511	59507152	8	12268											
GATA4	2626	broad.mit.edu	37	chr8	11606556	11606556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctctaccacaagatgaacGgcatcaaccggccgctcatc	11	6	8	16	3	3	2	2	1	1	1	4	2	3	2	4	2	3	2	4	2	4	1			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr8:11606556G>A	uc011kxc.1	+	1	1205	c.748G>A	c.(748-750)Ggc>Agc	p.G250S	GATA4_uc003wub.1_Missense_Mutation_p.G43S|GATA4_uc003wuc.2_Missense_Mutation_p.G249S	NM_002052	NP_002043	P43694	GATA4_HUMAN	Homo sapiens GATA binding protein 4 (GATA4), mRNA.	249					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CAAGATGAACGGCATCAACCG	0.637													11	69					0	0	1	0	0	A	11606556	G	A	11606556	3	1	285	1	0	0	0	0	1	0	0	0	6256	1116	39	2	751	2	GATA4	8	11606556	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08		11606556	134757466	9	12269											
C8orf47	203111	broad.mit.edu	37	chr8	99102249	99102249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactaatgaagaggaccaacGcattgaaggtaaaagttatg	17	9	10	5	1	0	3	0	2	0	1	0	4	0	4	1	2	2	3	1	2	8	5			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr8:99102249G>A	uc003yih.1	+	1	1152	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	C8orf47_uc022ayz.1_Intron	NM_173549	NP_775820	Q6P6B1	CH047_HUMAN	Homo sapiens chromosome 8 open reading frame 47 (C8orf47), transcript variant 1, mRNA.	335	Glu-rich.									kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			GAGGACCAACGCATTGAAGGT	0.483													24	60					0	0	1	0	0	A	99102249	G	A	99102249	3	1	285	1	0	0	0	0	1	0	0	0	2432	1087	38	1	1010	1	C8orf47	8	99102249	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08	87495693	99102249	47261773	10	12270											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112918731	112918731	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagaccctcatggaagactAtgagacacacaaatctaaaa	18	6	7	10	0	2	3	1	1	1	3	2	5	2	4	1	1	0	1	1	1	5	2			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr9:112918731A>G	uc004bej.4	+	8	3320	c.3128A>G	c.(3127-3129)tAt>tGt	p.Y1043C	PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.Y1043C|PALM2-AKAP2_uc011lwi.2_Missense_Mutation_p.Y901C|PALM2-AKAP2_uc004bem.3_Missense_Mutation_p.Y901C|PALM2-AKAP2_uc011lwj.2_Missense_Mutation_p.Y812C|PALM2-AKAP2_uc004ben.3_Intron	NM_007203	NP_009134	Q9Y2D5	AKAP2_HUMAN	Homo sapiens PALM2-AKAP2 readthrough (PALM2-AKAP2), transcript variant 1, mRNA.	812							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						ATGGAAGACTATGAGACACAC	0.537													13	70					0	0	1	0	0	G	112918731	A	G	112918731	3	3	285	1	0	0	0	0	1	0	0	0	11410	449	16	3	3162	3	PALM2-AKAP2	9	112918731	Missense_Mutation	SNP	A	TCGA-P5-A5F4-01A-11D-A289-08		112918731	28294700	11	12271											
PKP3	11187	broad.mit.edu	37	chr11	397651	397651	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgctacagcgatgcagccGccaagaagcaggtgaccacc	12	4	12	13	2	0	2	0	1	0	1	0	3	0	2	4	1	6	3	4	1	3	1	rs148819261		TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr11:397651G>A	uc021qbk.1	+	4	1131	c.1102G>A	c.(1102-1104)Gcc>Acc	p.A368T	PKP3_uc001lpc.3_Missense_Mutation_p.A353T	NM_007183	NP_009114	Q9Y446	PKP3_HUMAN	Homo sapiens plakophilin 3 (PKP3), mRNA.	353					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGATGCAGCCGCCAAGAAGCA	0.637													7	55					0	0	1	0	0	A	397651	G	A	397651	3	1	285	1	0	0	0	0	1	0	0	0	11986	1087	38	1	1071	1	PKP3	11	397651	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08		397651	134608865	12	12272											
AP2A2	161	broad.mit.edu	37	chr11	986944	986944	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacatcgagacggtcatcaaCgccctgaaggcgagtgccct	10	6	11	14	4	2	2	2	1	0	1	3	4	2	2	2	2	2	0	2	2	2	0			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr11:986944C>T	uc001lst.2	+	8	1338	c.1125C>T	c.(1123-1125)aaC>aaT	p.N375N	AP2A2_uc009yco.2_Non-coding_Transcript|AP2A2_uc001lss.3_Silent_p.N374N	NM_001242837	NP_001229766	O94973	AP2A2_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 2 subunit (AP2A2), transcript variant 1, mRNA.	374					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CGGTCATCAACGCCCTGAAGG	0.617													3	12					0	0	1	0	0	T	986944	C	T	986944	2	4	285	1	0	0	0	0	0	0	0	1	740	535	19	1		1	AP2A2	11	986944	Silent	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	589293	986944	134019572	13	12273											
PRDM11	56981	broad.mit.edu	37	chr11	45117366	45117366	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagggttcaatgttgaagAtggcagagccaattgcatcc	11	10	13	7	0	1	3	1	1	0	2	2	3	2	3	2	3	2	5	2	3	4	4			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr11:45117366A>G	uc001myo.3	+	1	259	c.10A>G	c.(10-12)Atg>Gtg	p.M4V		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	Homo sapiens PR domain containing 11 (PRDM11), mRNA.	4										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						aatgttgaagatggcagagcc	0.507													27	51					0	0	1	0	0	G	45117366	A	G	45117366	3	3	285	1	0	0	0	0	1	0	0	0	12452	333	12	3	12	3	PRDM11	11	45117366	Missense_Mutation	SNP	A	TCGA-P5-A5F4-01A-11D-A289-08	44130422	45117366	89889150	14	12274											
OR5D18	219438	broad.mit.edu	37	chr11	55587452	55587452	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtcactgaatcctttttatTagctgtgatggcctatgacc	8	15	9	9	0	1	3	1	3	0	0	2	3	2	3	3	2	1	1	3	2	4	5			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr11:55587452T>G	uc010rin.2	+	0	347	c.347T>G	c.(346-348)tTa>tGa	p.L116*		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCCTTTTTATTAGCTGTGATG	0.443													70	114					0	0	1	0	0	G	55587452	T	G	55587452	4	3	285	1	0	0	0	0	0	1	0	0	11157	1764	61	5	349	5	OR5D18	11	55587452	Nonsense_Mutation	SNP	T	TCGA-P5-A5F4-01A-11D-A289-08	10470086	55587452	79419064	15	12275											
TMEM216	51259	broad.mit.edu	37	chr11	61161357	61161357	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcttttgtattggcaggTgtcctgctaccatatccaac	7	14	9	11	0	0	0	0	0	0	0	2	0	2	0	3	3	3	4	3	3	4	6			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr11:61161357T>G	uc021qkf.1	+	3	409	c.137_splice	c.e3-1	p.G46_splice	TMEM216_uc010rlj.2_Splice_Site_p.G46_splice|TMEM216_uc001nrn.2_Splice_Site	NM_001173991	NP_001167462	Q9P0N5	TM216_HUMAN	Homo sapiens transmembrane protein 216 (TMEM216), transcript variant 3, mRNA.	39						integral to membrane		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438													7	23					0	0	1	0	0	G	61161357	T	G	61161357	5	3	285	1	0	0	0	0	0	0	1	0	16136	1710	59	5	148	5	TMEM216	11	61161357	Splice_Site	SNP	T	TCGA-P5-A5F4-01A-11D-A289-08	5573905	61161357	73845159	16	12276											
PDE2A	5138	broad.mit.edu	37	chr11	72292936	72292936	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaccgggccagggtcgggCagtcaattttgtagttgttg	7	11	15	8	3	1	0	1	0	0	0	2	1	1	0	2	3	1	4	2	3	3	5			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr11:72292936C>A	uc010rrc.2	-	21	2153	c.1907G>T	c.(1906-1908)tGc>tTc	p.C636F	PDE2A_uc001oso.3_Missense_Mutation_p.C615F|PDE2A_uc010rra.2_Missense_Mutation_p.C629F|PDE2A_uc001osn.3_Missense_Mutation_p.C380F|PDE2A_uc010rrb.2_Missense_Mutation_p.C627F|PDE2A_uc010rrd.2_Missense_Mutation_p.C521F	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	636	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CAGGGTCGGGCAGTCAATTTT	0.577													9	63					2.74318e-10	2.80414e-10	1	1	0	A	72292936	C	A	72292936	3	1	285	1	0	0	0	0	1	0	0	0	11636	710	25	5	958	5	PDE2A	11	72292936	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	11131579	72292936	62713580	17	12277											
ANO2	57101	broad.mit.edu	37	chr12	5708718	5708718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtctaggtcccactgctctGgatgtttcgaatgggcagag	8	11	13	9	1	2	1	0	0	2	1	4	3	3	2	1	3	1	3	1	3	2	2			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:5708718G>A	uc001qnm.2	-	20	2237	c.2165C>T	c.(2164-2166)cCa>cTa	p.P722L		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	727						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CCACTGCTCTGGATGTTTCGA	0.473													21	115					0	0	1	0	0	A	5708718	G	A	5708718	3	1	285	1	0	0	0	0	1	0	0	0	697	1348	47	3	855	3	ANO2	12	5708718	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08		5708718	128143177	18	12278											
LAG3	3902	broad.mit.edu	37	chr12	6882941	6882942	+	Frame_Shift_Ins	INS	-	-	C																															cctcctcctgggggcccaggINSccccgccgctacacggtgct																										TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:6882941_6882942insC	uc001qqt.4	+	2	634_635	c.285_286insC	c.(283-288)aggcccfs	p.R95fs	LAG3_uc001qqs.3_Frame_Shift_Ins_p.R95fs|LAG3_uc001qqu.3_5'UTR	NM_002286	NP_002277	P18627	LAG3_HUMAN	Homo sapiens lymphocyte-activation gene 3 (LAG3), mRNA.	95	Ig-like V-type.					integral to membrane	MHC class II protein binding|antigen binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGGGGCCCAGGCCCCGCCGCTA	0.792													3	5	---	---	---	---						C	6882942	-	C	6882941	7	5	285	1	0	1	1	0	0	0	0	0	8600	1194	42	0	295	0	LAG3	12	6882941	Frame_Shift_Ins	INS	-	TCGA-P5-A5F4-01A-11D-A289-08	1174223	6882941	126968954	19	12279											
PEX5	5830	broad.mit.edu	37	chr12	7362771	7362771	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcctatggggcagccgaCgcgcgggatctgtccaccct	6	7	14	14	4	1	0	0	0	1	0	2	3	2	1	4	3	2	1	4	3	1	1	rs148914171	byFrequency	TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:7362771C>T	uc009zfu.2	+	16	2452	c.1872C>T	c.(1870-1872)gaC>gaT	p.D624D	PEX5_uc001qsw.3_Silent_p.D624D|PEX5_uc010sgc.2_Silent_p.D639D|PEX5_uc001qsu.3_Silent_p.D587D|PEX5_uc010sgd.2_Silent_p.D645D|PEX5_uc001qsv.3_Silent_p.D616D	NM_001131026	NP_001124498	P50542	PEX5_HUMAN	Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant 5, mRNA.	624					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GGGCAGCCGACGCGCGGGATC	0.627													15	104					0	0	1	0	0	T	7362771	C	T	7362771	2	4	285	1	0	0	0	0	0	0	0	1	11748	535	19	1		1	PEX5	12	7362771	Silent	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	479830	7362771	126489124	20	12280											
SLCO1B3	28234	broad.mit.edu	37	chr12	21028269	21028269	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attatttcttccataccattTtttttcttgccgaaaaatcc	10	19	2	10	1	2	0	0	0	2	0	4	1	4	0	4	0	2	0	4	0	4	9			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:21028269T>C	uc010sil.2	+	6	893	c.828T>C	c.(826-828)ttT>ttC	p.F276F	SLCO1B3_uc001rek.3_Silent_p.F276F|SLCO1B3_uc001rel.3_Silent_p.F276F|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	276					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CCATACCATTTTTTTTCTTGC	0.358													32	65					0	0	1	0	0	C	21028269	T	C	21028269	2	2	285	1	0	0	0	0	0	0	0	1	14724	1838	64	3		3	SLCO1B3	12	21028269	Silent	SNP	T	TCGA-P5-A5F4-01A-11D-A289-08	13665498	21028269	112823626	21	12281											
KRT73	319101	broad.mit.edu	37	chr12	53010008	53010008	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagctccgagtccagcctcaCcctgtccccagacagcgtct	7	7	8	19	2	2	1	1	0	1	1	5	2	5	1	6	0	3	1	6	0	0	0			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:53010008C>G	uc001sas.3	-	1	639	c.604G>C	c.(604-606)Gtg>Ctg	p.V202L		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	202	Coil 1B.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCAGCCTCACCCTGTCCCCA	0.612													25	110					0	0	1	0	0	G	53010008	C	G	53010008	3	3	285	1	0	0	0	0	1	0	0	0	8486	507	18	5	1050	5	KRT73	12	53010008	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	31981739	53010008	80841887	22	12282											
ITGA5	3678	broad.mit.edu	37	chr12	54795993	54795993	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgacgagtcctgagtactCagcctctggaggggcggtga	7	9	15	10	2	3	3	1	3	2	0	4	5	4	4	2	4	2	1	2	4	1	1			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:54795993C>G	uc001sga.3	-	19	2172	c.2104G>C	c.(2104-2106)Gag>Cag	p.E702Q		NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	702					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CCTGAGTACTCAGCCTCTGGA	0.587													19	56					0	0	1	0	0	G	54795993	C	G	54795993	3	3	285	1	0	0	0	0	1	0	0	0	7879	835	29	5	1089	5	ITGA5	12	54795993	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	1785985	54795993	79055902	23	12283											
PTPRB	5787	broad.mit.edu	37	chr12	70949900	70949900	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccgtggagttctgaggccgGcaatgcaggttttgtatctt	6	13	14	8	2	2	1	0	1	2	0	2	2	2	2	2	4	1	5	2	4	2	5			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:70949900G>A	uc001swb.4	-	16	4119	c.4089C>T	c.(4087-4089)tgC>tgT	p.C1363C	PTPRB_uc010sto.2_Silent_p.C1273C|PTPRB_uc010stp.2_Silent_p.C1273C|PTPRB_uc001swc.4_Silent_p.C1581C|PTPRB_uc001swa.4_Silent_p.C1493C	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1363	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)			TCTGAGGCCGGCAATGCAGGT	0.458													8	25					0	0	1	0	0	A	70949900	G	A	70949900	2	1	285	1	0	0	0	0	0	0	0	1	12796	1195	42	3		3	PTPRB	12	70949900	Silent	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08	16153907	70949900	62901995	24	12284											
OR11H12	440153	broad.mit.edu	37	chr14	19377724	19377724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattcagatcttcctcttctCactctttactacaacatatg	11	16	2	12	0	5	1	2	0	4	1	7	1	6	1	1	0	3	0	1	0	5	7			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr14:19377724C>T	uc010tkp.2	+	0	131	c.131C>T	c.(130-132)tCa>tTa	p.S44L		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCCTCTTCTCACTCTTTACT	0.413													10	110					0	0	1	0	0	T	19377724	C	T	19377724	3	4	285	1	0	0	0	0	1	0	0	0	10927	838	29	3	133	3	OR11H12	14	19377724	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08		19377724	87971816	25	12285											
ARID4A	5926	broad.mit.edu	37	chr14	58831983	58831983	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttgcctctggtacctgtaGtataattgtacaagagagag	11	13	11	6	0	1	2	0	0	1	2	1	3	1	2	2	1	3	5	2	1	6	7			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr14:58831983G>C	uc001xdp.3	+	19	3430	c.3176G>C	c.(3175-3177)aGt>aCt	p.S1059T	ARID4A_uc001xdo.3_Missense_Mutation_p.S1059T|ARID4A_uc001xdq.3_Missense_Mutation_p.S1059T|ARID4A_uc010apg.1_Missense_Mutation_p.S737T	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	1059					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGTACCTGTAGTATAATTGTA	0.378													23	47					0	0	1	0	0	C	58831983	G	C	58831983	3	2	285	1	0	0	0	0	1	0	0	0	919	1029	36	5	3250	5	ARID4A	14	58831983	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08	39454259	58831983	48517557	26	12286											
DYNC1H1	1778	broad.mit.edu	37	chr14	102461153	102461154	+	Frame_Shift_Del	DEL	AG	AG	-																															gacaatgcagaaaccaagaaAgagtttggaccagtagttat																										TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr14:102461153_102461154delAG	uc001yks.2	+	12	3464_3465	c.3300_3301delAG	c.(3298-3303)aaagagfs	p.K1100fs		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	1100	Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AAACCAAGAAAGAGTTTGGACC	0.436													8	51	---	---	---	---						-	102461154	AG	-	102461153	7	5	285	1	0	1	0	1	0	0	0	0	4841	69	3	0	3350	0	DYNC1H1	14	102461153	Frame_Shift_Del	DEL	AG	TCGA-P5-A5F4-01A-11D-A289-08	43629170	102461153	4888387	27	12287											
FLYWCH1	84256	broad.mit.edu	37	chr16	2983273	2983273	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacgcgctgcacggctgccgGagccgggccatcacccaggg	6	3	15	17	5	1	0	1	0	0	0	1	1	1	1	4	4	3	3	4	4	0	0			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr16:2983273G>A	uc002csd.3	+	4	1302	c.939G>A	c.(937-939)cgG>cgA	p.R313R	FLYWCH1_uc002csb.3_Silent_p.R312R|FLYWCH1_uc002csc.3_Silent_p.R312R|FLYWCH1_uc010bsv.3_5'UTR	NM_032296	NP_115672	Q4VC44	FWCH1_HUMAN	Homo sapiens FLYWCH-type zinc finger 1 (FLYWCH1), transcript variant 1, mRNA.	313						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						ACGGCTGCCGGAGCCGGGCCA	0.667													6	21					0	0	1	0	0	A	2983273	G	A	2983273	2	1	285	1	0	0	0	0	0	0	0	1	5947	1161	41	3		3	FLYWCH1	16	2983273	Silent	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08		2983273	87371480	28	12288											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr17:7577120C>A	uc002gim.2	-	7	1012	c.818G>T	c.(817-819)cGt>cTt	p.R273L	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141L|TP53_uc010cnf.1_Missense_Mutation_p.R141L|TP53_uc002gii.1_Missense_Mutation_p.R141L|TP53_uc010cni.1_Missense_Mutation_p.R273L|TP53_uc010cnh.1_Missense_Mutation_p.R273L|TP53_uc002gij.2_Missense_Mutation_p.R273L|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.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			28	3					8.24728e-16	8.82268e-16	1	1	0	A	7577120	C	A	7577120	3	1	285	1	0	0	0	0	1	0	0	0	16378	536	19	5	468	5	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08		7577120	73618090	29	12289											
KRT15	3866	broad.mit.edu	37	chr17	39673186	39673186	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgttgatgtcagcctcaacGccctggcgcagggccagctc	6	7	12	16	3	2	1	2	1	0	0	3	1	2	1	4	2	3	3	4	2	1	1			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr17:39673186G>A	uc002hwy.3	-	2	803	c.612C>T	c.(610-612)ggC>ggT	p.G204G	KRT15_uc002hwz.3_Silent_p.G106G|KRT15_uc002hxa.3_Silent_p.G39G|KRT15_uc002hxb.1_Silent_p.G39G	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	204	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CAGCCTCAACGCCCTGGCGCA	0.612													20	109					0	0	1	0	0	A	39673186	G	A	39673186	2	1	285	1	0	0	0	0	0	0	0	1	8452	1074	38	1		1	KRT15	17	39673186	Silent	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08	32096066	39673186	41522024	30	12290											
TMC8	147138	broad.mit.edu	37	chr17	76134132	76134132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttctgggcctggctggaaCgggaggagttcctggtcccc	4	9	17	11	1	1	0	0	0	1	0	3	3	3	3	4	7	1	3	4	7	1	2	rs149327841	by1000genomes	TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr17:76134132C>T	uc002jup.2	+	11	1778	c.1396C>T	c.(1396-1398)Cgg>Tgg	p.R466W	TMC8_uc002juq.2_Missense_Mutation_p.R243W|TMC8_uc010wtr.1_Missense_Mutation_p.T171M|TMC8_uc002jur.1_5'UTR	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	Homo sapiens transmembrane channel-like 8 (TMC8), mRNA.	466						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CTGGCTGGAACGGGAGGAGTT	0.647													16	117					0	0	1	0	0	T	76134132	C	T	76134132	3	4	285	1	0	0	0	0	1	0	0	0	15988	527	19	1	1438	1	TMC8	17	76134132	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	36460946	76134132	5061078	31	12291											
RNF126	55658	broad.mit.edu	37	chr19	651708	651708	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaccggtgccgggacggatGgtctctctcccgccggctct	3	9	14	15	5	3	0	0	0	3	0	5	2	3	2	4	5	2	2	4	5	1	1			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr19:651708G>C	uc010drs.3	-	3	458	c.346C>G	c.(346-348)Cat>Gat	p.H116D		NM_194460	NP_919442	Q9BV68	RN126_HUMAN	Homo sapiens ring finger protein 126 (RNF126), mRNA.	116							protein binding|zinc ion binding			lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CGGGACGGATGGTCTCTCTCC	0.721													14	22					0	0	1	0	0	C	651708	G	C	651708	3	2	285	1	0	0	0	0	1	0	0	0	13435	1348	47	5	613	5	RNF126	19	651708	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08		651708	58477275	32	12292											
ZNF430	80264	broad.mit.edu	37	chr19	21216300	21216300	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtggccatagaattttcTctggaggagtggcaatgcct	9	12	13	7	0	1	1	0	0	1	1	2	4	1	3	2	4	1	1	2	4	3	3			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr19:21216300T>C	uc002npj.3	+	2	316	c.135T>C	c.(133-135)tcT>tcC	p.S45S	ZNF430_uc002npk.3_Silent_p.S45S	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	Homo sapiens zinc finger protein 430 (ZNF430), transcript variant 1, mRNA.	45	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						TAGAATTTTCTCTGGAGGAGT	0.438													21	105					0	0	1	0	0	C	21216300	T	C	21216300	2	2	285	1	0	0	0	0	0	0	0	1	17901	1538	54	4		4	ZNF430	19	21216300	Silent	SNP	T	TCGA-P5-A5F4-01A-11D-A289-08	20564592	21216300	37912683	33	12293											
PLCB4	5332	broad.mit.edu	37	chr20	9389339	9389339	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcggtcttggctacttgAagacacatgcaattgaattt	11	13	9	8	1	1	3	0	2	1	1	2	3	1	3	0	2	2	2	0	2	4	5			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr20:9389339A>G	uc021wam.1	+	18	1828	c.1813A>G	c.(1813-1815)Aag>Gag	p.K605E	PLCB4_uc010gbw.1_Missense_Mutation_p.K605E|PLCB4_uc010gbx.3_Missense_Mutation_p.K617E|PLCB4_uc021wal.1_Missense_Mutation_p.K605E|PLCB4_uc002wnh.3_Missense_Mutation_p.K452E	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	605	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGGCTACTTGAAGACACATGC	0.373													6	11					0	0	1	0	0	G	9389339	A	G	9389339	3	3	285	1	0	0	0	0	1	0	0	0	12030	247	9	3	1927	3	PLCB4	20	9389339	Missense_Mutation	SNP	A	TCGA-P5-A5F4-01A-11D-A289-08		9389339	53636181	34	12294											
PAX1	5075	broad.mit.edu	37	chr20	21689966	21689967	+	Frame_Shift_Ins	INS	-	-	G																															ggcggcggctacctcgccccINSgggcccgccgtggccgcctg																										TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr20:21689966_21689967insG	uc002wsj.2	+	3	1220_1221	c.1166_1167insG	c.(1165-1167)ccgfs	p.P389fs	PAX1_uc010zsl.2_Frame_Shift_Ins_p.P389fs|PAX1_uc010zsm.2_Frame_Shift_Ins_p.P365fs	NM_006192	NP_006183	P15863	PAX1_HUMAN	Homo sapiens paired box 1 (PAX1), mRNA.	389					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						TACCTCGCCCCGGGCCCGCCGT	0.748													12	80	---	---	---	---						G	21689967	-	G	21689966	7	5	285	1	0	1	1	0	0	0	0	0	11478	652	23	0	1180	0	PAX1	20	21689966	Frame_Shift_Ins	INS	-	TCGA-P5-A5F4-01A-11D-A289-08	12300627	21689966	41335554	35	12295											
IFT52	51098	broad.mit.edu	37	chr20	42264576	42264576	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaacacagggctcacgagCagctaaatgtgaaacatgaa	17	6	10	8	1	1	3	1	3	0	0	1	4	1	3	0	1	4	3	0	1	5	1			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr20:42264576C>G	uc002xkw.3	+	10	1056	c.934C>G	c.(934-936)Cag>Gag	p.Q312E	IFT52_uc002xkx.3_Non-coding_Transcript|IFT52_uc002xkz.3_Missense_Mutation_p.Q312E	NM_016004	NP_057088	Q9Y366	IFT52_HUMAN	Homo sapiens intraflagellar transport 52 homolog (Chlamydomonas) (IFT52), mRNA.	312						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding	p.E311K(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGCTCACGAGCAGCTAAATGT	0.488													9	53					0	0	1	0	0	G	42264576	C	G	42264576	3	3	285	1	0	0	0	0	1	0	0	0	7561	711	25	5	972	5	IFT52	20	42264576	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	20574610	42264576	20760944	36	12296											
KRTAP10-7	386675	broad.mit.edu	37	chr21	46021254	46021254	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaagcccgtctgctgtGtgcccacctgctctgatgat	5	11	11	14	1	2	2	0	2	2	0	2	2	2	2	3	0	5	4	3	0	1	0			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr21:46021254G>T	uc002zfn.4	+	1	743	c.718G>T	c.(718-720)Gtg>Ttg	p.V240L	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198689	NP_941962	P60409	KR107_HUMAN	Homo sapiens keratin associated protein 10-7 (KRTAP10-7), mRNA.	245	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CGTCTGCTGTGTGCCCACCTG	0.652													43	211					4.06502e-11	4.24979e-11	1	1	0	T	46021254	G	T	46021254	3	4	285	1	0	0	0	0	1	0	0	0	8514	1377	48	5	724	5	KRTAP10-7	21	46021254	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08		46021254	2108641	37	12297											
LARGE	9215	broad.mit.edu	37	chr22	33670458	33670458	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatttcagggcagcaaagccGtagcggcgggacatgtcctg	9	8	14	10	3	1	0	1	0	0	0	2	1	2	1	2	3	3	3	2	3	3	3			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr22:33670458G>A	uc003and.4	-	15	2805	c.2226C>T	c.(2224-2226)taC>taT	p.Y742Y	LARGE_uc011amd.2_Silent_p.Y541Y|LARGE_uc003ane.4_Silent_p.Y742Y|LARGE_uc010gwp.3_Silent_p.Y690Y|LARGE_uc011ame.2_Silent_p.Y674Y|LARGE_uc011amf.2_Silent_p.Y693Y	NM_004737	NP_598397	O95461	LARGE_HUMAN	Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA.	742					N-acetylglucosamine metabolic process|glycosphingolipid biosynthetic process|muscle cell homeostasis|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CAGCAAAGCCGTAGCGGCGGG	0.542											OREG0026497	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	109					0	0	1	0	0	A	33670458	G	A	33670458	2	1	285	1	0	0	0	0	0	0	0	1	8627	1140	40	1		1	LARGE	22	33670458	Silent	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08		33670458	17634108	38	12298											
DHRSX	207063	broad.mit.edu	37	chrX	2161263	2161263	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtaggctgcgtggggtgagTagcaggcactgtggggcaag	7	7	20	7	2	0	1	0	1	0	0	0	1	0	1	0	6	2	6	0	6	3	2			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chrX:2161263T>C	uc004cqf.4	-	5	654	c.605A>G	c.(604-606)tAc>tGc	p.Y202C		NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) X-linked (DHRSX), mRNA.	202							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GTGGGGTGAGTAGCAGGCACT	0.642													8	28					0	0	1	0	0	C	2161263	T	C	2161263	3	2	285	1	0	0	0	0	1	0	0	0	4499	1638	57	3	395	3	DHRSX	23	2161263	Missense_Mutation	SNP	T	TCGA-P5-A5F4-01A-11D-A289-08		2161263	153109297	39	12299											
CYLC1	1538	broad.mit.edu	37	chrX	83116196	83116196	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacaggcaggggaaatgtcTcttccaaggttgtaagtcct	10	11	12	8	0	1	0	0	0	1	0	4	1	3	1	2	4	1	4	2	4	4	4			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chrX:83116196T>C	uc004eei.1	+	0	27	c.6T>C	c.(4-6)tcT>tcC	p.S2S	CYLC1_uc004eeh.1_Silent_p.S2S	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	2					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GGGAAATGTCTCTTCCAAGGT	0.313													10	35					0	0	1	0	0	C	83116196	T	C	83116196	2	2	285	1	0	0	0	0	0	0	0	1	4141	1538	54	4		4	CYLC1	23	83116196	Silent	SNP	T	TCGA-P5-A5F4-01A-11D-A289-08	80954933	83116196	72154364	40	12300											
BTK	695	broad.mit.edu	37	chrX	100615678	100615678	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taatcataaagggccacaacCtttttcagctcacttgtgga	12	12	7	10	0	3	0	3	0	0	0	3	1	3	1	2	2	2	1	2	2	4	5			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chrX:100615678C>T	uc010nno.2	-	7	989	c.756G>A	c.(754-756)aaG>aaA	p.K252K	BTK_uc004ehf.2_5'Flank|BTK_uc010nnh.2_5'Flank|BTK_uc010nni.2_5'Flank|BTK_uc004ehe.2_5'Flank|BTK_uc010nnj.2_5'Flank|BTK_uc010nnk.2_5'Flank|BTK_uc010nnl.2_5'Flank|BTK_uc010nnm.2_5'Flank|BTK_uc004ehg.2_Silent_p.K218K|BTK_uc010nnn.2_Silent_p.K218K|BTK_uc004ehh.1_5'Flank|BTK_uc004ehi.3_Silent_p.K218K	NM_000061	NP_000052	Q06187	BTK_HUMAN	Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.	218	SH3.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GGGCCACAACCTTTTTCAGCT	0.448									Agammaglobulinemia, X-linked				17	102					0	0	1	0	0	T	100615678	C	T	100615678	2	4	285	1	0	0	0	0	0	0	0	1	1557	680	24	3		3	BTK	23	100615678	Silent	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	17499482	100615678	54654882	41	12301											
MUM1L1	139221	broad.mit.edu	37	chrX	105449981	105449981	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtgaagtggaaacaaagTcattacaaaactctagctgg	17	8	9	7	0	2	1	1	1	1	0	2	2	2	2	0	2	4	1	0	2	8	2			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chrX:105449981T>C	uc022cca.1	+	0	556	c.556T>C	c.(556-558)Tca>Cca	p.S186P	MUM1L1_uc004emg.2_Missense_Mutation_p.S186P|MUM1L1_uc004emf.2_Missense_Mutation_p.S186P	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	186										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGAAACAAAGTCATTACAAAA	0.383													11	13					0	0	1	0	0	C	105449981	T	C	105449981	3	2	285	1	0	0	0	0	1	0	0	0	9986	1667	58	3	558	3	MUM1L1	23	105449981	Missense_Mutation	SNP	T	TCGA-P5-A5F4-01A-11D-A289-08	4834303	105449981	49820579	42	12302											
CATSPER4	378807	broad.mit.edu	37	chr1	26524778	26524778	+	Splice_Site	DEL	T	T	-																															gctcttttctctctgacaggTtttttccgtgtttggagtaa																										TCGA-P5-A5F6-01A-11D-A289-08	TCGA-P5-A5F6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc801897-1db7-480c-8e5f-7da4002fb31f	4bdadad4-7eca-457d-bd33-1183d7950589	g.chr1:26524778delT	uc010oez.2	+	6	679	c.679_splice	c.e6-1	p.V227_splice	CATSPER4_uc010oey.1_Splice_Site_p.V49_splice|CATSPER4_uc009vsf.3_Intron	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.	227					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTGACAGGTTTTTTCCGTG	0.488													7	921	---	---	---	---						-	26524778	T	-	26524778	8	5	286	1	0	1	0	1	0	0	1	0	2690	1739	60	0	702	0	CATSPER4	1	26524778	Splice_Site	DEL	T	TCGA-P5-A5F6-01A-11D-A289-08		26524778	222725843	1	12303											
HTRA2	27429	broad.mit.edu	37	chr2	74757185	74757186	+	Frame_Shift_Ins	INS	-	-	G																															ctggagccttcgggcatggcINSgggctttggggggcattcgc																										TCGA-P5-A5F6-01A-11D-A289-08	TCGA-P5-A5F6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc801897-1db7-480c-8e5f-7da4002fb31f	4bdadad4-7eca-457d-bd33-1183d7950589	g.chr2:74757185_74757186insG	uc002smi.1	+	0	654_655	c.52_53insG	c.(52-54)cggfs	p.R18fs	AUP1_uc002sme.3_5'Flank|AUP1_uc002smf.3_5'Flank|AUP1_uc002smg.3_5'Flank|AUP1_uc002smh.3_5'Flank|AUP1_uc010yrx.2_5'Flank|AUP1_uc021vjm.1_5'Flank|AUP1_uc010yry.2_5'Flank|HTRA2_uc002smj.1_Frame_Shift_Ins_p.R18fs|HTRA2_uc002smk.1_Frame_Shift_Ins_p.R18fs|HTRA2_uc002sml.1_Frame_Shift_Ins_p.R18fs|HTRA2_uc010ffl.3_5'Flank	NM_013247	NP_037379	O43464	HTRA2_HUMAN	Homo sapiens HtrA serine peptidase 2 (HTRA2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	18					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TCGGGCATGGCGGGCTTTGGGG	0.718													8	96	---	---	---	---						G	74757186	-	G	74757185	7	5	286	1	0	1	1	0	0	0	0	0	7454	759	27	0	54	0	HTRA2	2	74757185	Frame_Shift_Ins	INS	-	TCGA-P5-A5F6-01A-11D-A289-08		74757185	168442188	2	12304											
KRIT1	889	broad.mit.edu	37	chr7	91865759	91865759	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaacatccttgctgtaagTgtagcaaaatgagtactgga	14	12	9	6	0	0	1	0	1	0	0	1	2	1	2	1	1	4	5	1	1	6	5			TCGA-P5-A5F6-01A-11D-A289-08	TCGA-P5-A5F6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc801897-1db7-480c-8e5f-7da4002fb31f	4bdadad4-7eca-457d-bd33-1183d7950589	g.chr7:91865759T>C	uc003ulr.1	-	6	1345	c.453A>G	c.(451-453)acA>acG	p.T151T	KRIT1_uc010lev.1_5'UTR|KRIT1_uc003ulq.1_Silent_p.T151T|KRIT1_uc003uls.1_Silent_p.T151T|KRIT1_uc003ult.1_Silent_p.T151T|KRIT1_uc003ulu.1_Silent_p.T151T|KRIT1_uc003ulv.1_Silent_p.T151T	NM_004912	NP_919438	O00522	KRIT1_HUMAN	Homo sapiens KRIT1, ankyrin repeat containing (KRIT1), transcript variant 2, mRNA.	151					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTGCTGTAAGTGTAGCAAAAT	0.323													6	23					0	0	1	0	0	C	91865759	T	C	91865759	2	2	286	1	0	0	0	0	0	0	0	1	8445	1683	59	3		3	KRIT1	7	91865759	Silent	SNP	T	TCGA-P5-A5F6-01A-11D-A289-08		91865759	67272904	3	12305											
ACSS1	84532	broad.mit.edu	37	chr20	24988567	24988567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacctggtttttggaagaCgtttcaccacctggcaagga	10	10	11	10	1	1	2	1	0	0	2	1	4	1	4	3	4	0	3	3	4	2	3	rs150793632		TCGA-P5-A5F6-01A-11D-A289-08	TCGA-P5-A5F6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc801897-1db7-480c-8e5f-7da4002fb31f	4bdadad4-7eca-457d-bd33-1183d7950589	g.chr20:24988567C>T	uc002wub.3	-	13	1981	c.1901G>A	c.(1900-1902)cGt>cAt	p.R634H	ACSS1_uc002wuc.3_Missense_Mutation_p.R632H|ACSS1_uc021wbm.1_Intron|ACSS1_uc010gdc.3_Missense_Mutation_p.R429H|ACSS1_uc002wua.3_Missense_Mutation_p.R551H|ACSS1_uc021wbl.1_Missense_Mutation_p.R513H|ACSS1_uc002wud.1_Non-coding_Transcript	NM_032501	NP_115890	Q9NUB1	ACS2L_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 1 (ACSS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	634					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	AMP binding|ATP binding|acetate-CoA ligase activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TTTTGGAAGACGTTTCACCAC	0.567													6	63					0	0	1	0	0	T	24988567	C	T	24988567	3	4	286	1	0	0	0	0	1	0	0	0	188	536	19	1	172	1	ACSS1	20	24988567	Missense_Mutation	SNP	C	TCGA-P5-A5F6-01A-11D-A289-08		24988567	38036953	4	12306											
TMEM17	200728	broad.mit.edu	37	chr2	62729687	62729687	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtcaggtaagattgaatacTaaaagaaaagccaaaacatg	21	7	8	5	0	1	3	1	1	0	2	1	3	1	3	1	1	3	1	1	1	9	4			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr2:62729687T>C	uc002sbt.2	-	3	545	c.205_splice	c.e3-1	p.Y69_splice	TMEM17_uc002sbu.2_Intron|TMEM17_uc002sbv.1_Intron	NM_198276	NP_938017	Q86X19	TMM17_HUMAN	Homo sapiens transmembrane protein 17 (TMEM17), mRNA.	69						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			GATTGAATACTAAAAGAAAAG	0.308													5	18					0	0	1	0	0	C	62729687	T	C	62729687	5	2	287	1	0	0	0	0	0	0	1	0	16082	1536	53	4	401	4	TMEM17	2	62729687	Splice_Site	SNP	T	TCGA-QH-A65S-01A-11D-A29Q-08		62729687	180469686	1	12307											
RPIA	22934	broad.mit.edu	37	chr2	89037526	89037526	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagataatgggaattttatCttggactggaagtttgaccg	12	13	11	5	1	1	2	0	1	1	1	1	5	1	5	1	3	0	1	1	3	4	5			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr2:89037526C>T	uc002ste.3	+	7	812	c.771C>T	c.(769-771)atC>atT	p.I257I		NM_144563	NP_653164	P49247	RPIA_HUMAN	Homo sapiens ribose 5-phosphate isomerase A (RPIA), mRNA.	257					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				GGAATTTTATCTTGGACTGGA	0.433													19	39					0	0	1	0	0	T	89037526	C	T	89037526	2	4	287	1	0	0	0	0	0	0	0	1	13553	903	32	3		3	RPIA	2	89037526	Silent	SNP	C	TCGA-QH-A65S-01A-11D-A29Q-08	26307839	89037526	154161847	2	12308											
NEB	4703	broad.mit.edu	37	chr2	152502668	152502668	+	Frame_Shift_Del	DEL	T	T	-																															cttgtgttgattaagtttgcTttagccagaacaatgtcagg																										TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr2:152502668delT	uc021vrb.1	-	52	7541	c.7512delA	c.(7510-7512)aaafs	p.K2504fs	NEB_uc002txu.3_Frame_Shift_Del_p.K2504fs|NEB_uc021vrc.1_Frame_Shift_Del_p.K2504fs|NEB_uc010fnx.3_Frame_Shift_Del_p.K2504fs|NEB_uc021vrd.1_Frame_Shift_Del_p.K2504fs	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2504					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle	p.K2504E(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTAAGTTTGCTTTAGCCAGAA	0.328													2	4	---	---	---	---						-	152502668	T	-	152502668	7	5	287	1	0	1	0	1	0	0	0	0	10302	1606	56	0	18686	0	NEB	2	152502668	Frame_Shift_Del	DEL	T	TCGA-QH-A65S-01A-11D-A29Q-08	63465142	152502668	90696705	3	12309											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								13	19					0	0	1	0	0	T	209113112	C	T	209113112	3	4	287	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A65S-01A-11D-A29Q-08	56610444	209113112	34086261	4	12310											
ALPP	250	broad.mit.edu	37	chr2	233245025	233245025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggaatggctggcgaagCgccaggtgatgggggctggc	7	6	20	8	2	0	1	0	1	0	0	0	3	0	2	1	7	2	3	1	7	2	0			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr2:233245025C>T	uc002vsq.3	+	5	952	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	263			R -> H (in dbSNP:rs2853378).			anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	p.R263C(2)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GCTGGCGAAGCGCCAGGTGAT	0.667													17	173					0	0	1	0	0	T	233245025	C	T	233245025	3	4	287	1	0	0	0	0	1	0	0	0	548	768	27	1	809	1	ALPP	2	233245025	Missense_Mutation	SNP	C	TCGA-QH-A65S-01A-11D-A29Q-08	24131913	233245025	9954348	5	12311											
ALPPL2	251	broad.mit.edu	37	chr2	233273106	233273106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggaatggctggcgaagCaccaggtgatgggggctggt	8	7	19	7	1	0	1	0	1	0	0	0	3	0	2	1	7	2	4	1	7	2	0			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr2:233273106C>T	uc002vss.4	+	5	831	c.778C>T	c.(778-780)Cac>Tac	p.H260Y		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	260				H -> R (in Ref. 8; AAH14139).	phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GCTGGCGAAGCACCAGGTGAT	0.662													4	11					0	0	1	0	0	T	233273106	C	T	233273106	3	4	287	1	0	0	0	0	1	0	0	0	549	710	25	3	800	3	ALPPL2	2	233273106	Missense_Mutation	SNP	C	TCGA-QH-A65S-01A-11D-A29Q-08	28081	233273106	9926267	6	12312											
SETMAR	6419	broad.mit.edu	37	chr3	4355172	4355172	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttggcactttttgcagcCaaagatattgtgccagaaga	13	11	10	7	0	0	3	0	0	0	3	0	3	0	3	2	1	3	3	2	1	4	5			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr3:4355172C>G	uc011asp.2	+	1	814	c.747C>G	c.(745-747)gcC>gcG	p.A249A	SUMF1_uc003bps.2_Intron|SETMAR_uc003bpw.4_Silent_p.A236A|SETMAR_uc011asq.2_Intron|SETMAR_uc003bpy.4_Intron|SETMAR_uc011asr.2_Intron|SETMAR_uc010hbx.3_Silent_p.A44A	NM_006515	NP_006506	Q53H47	SETMR_HUMAN	Homo sapiens SET domain and mariner transposase fusion gene (SETMAR), transcript variant 1, mRNA.	236	Histone-lysine N-methyltransferase.|SET.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		TTTTTGCAGCCAAAGATATTG	0.373								Chromatin Structure					7	31					0	0	1	0	0	G	4355172	C	G	4355172	2	3	287	1	0	0	0	0	0	0	0	1	14140	581	21	5		5	SETMAR	3	4355172	Silent	SNP	C	TCGA-QH-A65S-01A-11D-A29Q-08		4355172	193667258	7	12313											
SETMAR	6419	broad.mit.edu	37	chr3	4355408	4355409	+	Frame_Shift_Ins	INS	-	-	T																															agcatgtgtggctcagccccINSttctgtgttcccctcctgca																										TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr3:4355408_4355409insT	uc011asp.2	+	1	1050_1051	c.983_984insT	c.(982-984)cctfs	p.P328fs	SUMF1_uc003bps.2_Intron|SETMAR_uc003bpw.4_Frame_Shift_Ins_p.P315fs|SETMAR_uc011asq.2_Frame_Shift_Ins_p.P189fs|SETMAR_uc003bpy.4_Frame_Shift_Ins_p.P50fs|SETMAR_uc011asr.2_Frame_Shift_Ins_p.P72fs|SETMAR_uc010hbx.3_Frame_Shift_Ins_p.P123fs	NM_006515	NP_006506	Q53H47	SETMR_HUMAN	Homo sapiens SET domain and mariner transposase fusion gene (SETMAR), transcript variant 1, mRNA.	315	Histone-lysine N-methyltransferase.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		GGCTCAGCCCCTTCTGTGTTCC	0.515								Chromatin Structure					8	26	---	---	---	---						T	4355409	-	T	4355408	7	5	287	1	0	1	1	0	0	0	0	0	14140	681	24	0	989	0	SETMAR	3	4355408	Frame_Shift_Ins	INS	-	TCGA-QH-A65S-01A-11D-A29Q-08	236	4355408	193667022	8	12314											
FLNB	2317	broad.mit.edu	37	chr3	58120353	58120353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtctatcaagtcccttcaagGtcaaggtccttcccacatat	10	12	6	13	0	4	0	3	0	1	0	7	0	7	0	3	2	0	0	3	2	5	4			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr3:58120353G>A	uc003djj.2	+	26	4690	c.4525G>A	c.(4525-4527)Gtc>Atc	p.V1509I	FLNB_uc010hne.2_Missense_Mutation_p.V1540I|FLNB_uc003djk.2_Missense_Mutation_p.V1509I|FLNB_uc010hnf.2_Missense_Mutation_p.V1509I|FLNB_uc003djl.2_Missense_Mutation_p.V1340I|FLNB_uc003djm.2_Missense_Mutation_p.V1340I	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1509	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TCCCTTCAAGGTCAAGGTCCT	0.488													15	119					0	0	1	0	0	A	58120353	G	A	58120353	3	1	287	1	0	0	0	0	1	0	0	0	5934	1261	44	3	4728	3	FLNB	3	58120353	Missense_Mutation	SNP	G	TCGA-QH-A65S-01A-11D-A29Q-08	53764945	58120353	139902077	9	12315											
FGF5	2250	broad.mit.edu	37	chr4	81207567	81207567	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcaatacatagaactgaaaAaacagggcgggagtggtatg	17	6	13	5	1	0	2	0	1	0	1	0	3	0	3	0	3	4	2	0	3	8	3			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr4:81207567A>T	uc003hmd.3	+	2	785	c.548A>T	c.(547-549)aAa>aTa	p.K183I	FGF5_uc003hme.3_3'UTR	NM_004464	NP_004455	P12034	FGF5_HUMAN	Homo sapiens fibroblast growth factor 5 (FGF5), transcript variant 1, mRNA.	183					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AGAACTGAAAAAACAGGGCGG	0.468													28	65					0	0	1	0	0	T	81207567	A	T	81207567	3	4	287	1	0	0	0	0	1	0	0	0	5855	14	1	5	558	5	FGF5	4	81207567	Missense_Mutation	SNP	A	TCGA-QH-A65S-01A-11D-A29Q-08		81207567	109946709	10	12316											
VCAN	1462	broad.mit.edu	37	chr5	82833311	82833311	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaacatttttcaggtggtGagcctgatgttttccccaca	9	13	9	10	0	1	3	1	2	0	1	2	3	2	3	3	2	2	1	3	2	1	4			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr5:82833311G>C	uc003kii.3	+	7	4845	c.4489G>C	c.(4489-4491)Gag>Cag	p.E1497Q	VCAN_uc003kij.3_Missense_Mutation_p.E510Q|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.E161Q	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	1497	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTCAGGTGGTGAGCCTGATGT	0.438													12	26					0	0	1	0	0	C	82833311	G	C	82833311	3	2	287	1	0	0	0	0	1	0	0	0	17135	1291	45	5	4515	5	VCAN	5	82833311	Missense_Mutation	SNP	G	TCGA-QH-A65S-01A-11D-A29Q-08		82833311	98081949	11	12317											
C6orf15	29113	broad.mit.edu	37	chr6	31079466	31079466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgttccccaaccagtccCagggcctccacctccccagg	6	6	7	22	1	0	0	0	0	0	0	5	0	4	0	10	2	1	1	10	2	1	1			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr6:31079466C>T	uc003nsk.1	-	1	670	c.670G>A	c.(670-672)Ggg>Agg	p.G224R		NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA.	224	Gly-rich.									endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						CAACCAGTCCCAGGGCCTCCA	0.587													14	39					0	0	1	0	0	T	31079466	C	T	31079466	3	4	287	1	0	0	0	0	1	0	0	0	2336	594	21	3	311	3	C6orf15	6	31079466	Missense_Mutation	SNP	C	TCGA-QH-A65S-01A-11D-A29Q-08		31079466	140035601	12	12318											
OPN4	94233	broad.mit.edu	37	chr10	88418275	88418275	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttctgtggagctctcttTggcatttcctccatgatcac	5	15	8	13	0	3	1	1	1	2	0	6	2	5	2	3	2	1	2	3	2	0	3			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr10:88418275T>C	uc010qmk.1	+	4	719	c.492T>C	c.(490-492)ttT>ttC	p.F164F	OPN4_uc001kdp.3_Silent_p.F164F|OPN4_uc001kdq.3_Silent_p.F153F|OPN4_uc009xsx.1_5'Flank	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.	153					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GAGCTCTCTTTGGCATTTCCT	0.617													16	42					0	0	1	0	0	C	88418275	T	C	88418275	2	2	287	1	0	0	0	0	0	0	0	1	10882	1809	63	3		3	OPN4	10	88418275	Silent	SNP	T	TCGA-QH-A65S-01A-11D-A29Q-08		88418275	47116472	13	12319											
OR52A5	390054	broad.mit.edu	37	chr11	5153482	5153482	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatggtggcatgtctcaaggGgatacagatggccacatagc	11	8	14	8	0	1	1	1	0	1	1	2	3	1	2	1	5	2	1	1	5	3	2			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr11:5153482G>T	uc010qyx.2	-	0	391	c.391C>A	c.(391-393)Ccc>Acc	p.P131T		NM_001005160	NP_001005160	Q9H2C5	O52A5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 5 (OR52A5), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGTCTCAAGGGGATACAGATG	0.473													12	14					1.08611e-07	1.12114e-07	1	1	0	T	5153482	G	T	5153482	3	4	287	1	0	0	0	0	1	0	0	0	11110	1232	43	5	562	5	OR52A5	11	5153482	Missense_Mutation	SNP	G	TCGA-QH-A65S-01A-11D-A29Q-08		5153482	129853034	14	12320											
ANO1	55107	broad.mit.edu	37	chr11	69934117	69934117	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggactaccacgaggatgAcaagcgcttccgcagggagg	11	5	15	10	3	0	1	0	1	0	0	1	6	1	4	2	4	2	2	2	4	2	2			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr11:69934117A>G	uc001opj.3	+	1	673	c.368A>G	c.(367-369)gAc>gGc	p.D123G	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Missense_Mutation_p.D95G	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	123					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CACGAGGATGACAAGCGCTTC	0.672													4	16					0	0	1	0	0	G	69934117	A	G	69934117	3	3	287	1	0	0	0	0	1	0	0	0	695	275	10	3	374	3	ANO1	11	69934117	Missense_Mutation	SNP	A	TCGA-QH-A65S-01A-11D-A29Q-08	64780635	69934117	65072399	15	12321											
TPTE2	93492	broad.mit.edu	37	chr13	20025343	20025343	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatagtggtttcgatgtttcTtatctagaaaccgcacaact	11	14	8	8	2	2	1	0	0	2	1	3	3	2	1	1	1	2	3	1	1	5	5			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr13:20025343T>C	uc001umd.3	-	11	975	c.764A>G	c.(763-765)aAg>aGg	p.K255R	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.K144R|TPTE2_uc001ume.3_Missense_Mutation_p.K178R|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	255	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TCGATGTTTCTTATCTAGAAA	0.363													8	25					0	0	1	0	0	C	20025343	T	C	20025343	3	2	287	1	0	0	0	0	1	0	0	0	16428	1609	56	4	844	4	TPTE2	13	20025343	Missense_Mutation	SNP	T	TCGA-QH-A65S-01A-11D-A29Q-08		20025343	95144535	16	12322											
HSD3B7	80270	broad.mit.edu	37	chr16	30998231	30998231	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacggtgaaggccaccagaTcatgagggacttctaccgcc	10	7	11	13	2	2	3	1	2	1	1	2	4	2	4	4	3	2	0	4	3	3	3			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr16:30998231T>G	uc002eaf.2	+	5	708	c.602T>G	c.(601-603)aTc>aGc	p.I201S	HSD3B7_uc010cac.2_Intron|HSD3B7_uc002eag.2_Intron|HSD3B7_uc002eah.2_Missense_Mutation_p.I201S	NM_025193	NP_079469	Q9H2F3	3BHS7_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 (HSD3B7), transcript variant 1, mRNA.	201					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGCCACCAGATCATGAGGGAC	0.662													13	45					0	0	1	0	0	G	30998231	T	G	30998231	3	3	287	1	0	0	0	0	1	0	0	0	7392	1435	50	5	620	5	HSD3B7	16	30998231	Missense_Mutation	SNP	T	TCGA-QH-A65S-01A-11D-A29Q-08		30998231	59356522	17	12323											
CHMP1A	5119	broad.mit.edu	37	chr16	89720317	89720317	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccattcggtacataccttcaActggaacagggtatctgcaa	12	10	8	11	1	2	0	1	0	1	0	3	1	2	1	2	3	5	3	2	3	6	5			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr16:89720317A>G	uc002fnu.3	-	1	155	c.22T>C	c.(22-24)Ttg>Ctg	p.L8L	CHMP1A_uc002fnv.3_Intron	NM_002768	NP_002759	Q9HD42	CHM1A_HUMAN	Homo sapiens charged multivesicular body protein 1A (CHMP1A), transcript variant 2, mRNA.	8					cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		CATACCTTCAACTGGAACAGG	0.502													32	61					0	0	1	0	0	G	89720317	A	G	89720317	2	3	287	1	0	0	0	0	0	0	0	1	3352	40	2	3		3	CHMP1A	16	89720317	Silent	SNP	A	TCGA-QH-A65S-01A-11D-A29Q-08	58722086	89720317	634436	18	12324											
TP53	7157	broad.mit.edu	37	chr17	7573991	7573992	+	Frame_Shift_Ins	INS	-	-	A																															tccttgagttccaaggcctcINSattcagctctcggaacatct																										TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr17:7573991_7573992insA	uc002gim.2	-	9	1229_1230	c.1035_1036insT	c.(1033-1038)aatgagfs	p.N345fs	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Intron|TP53_uc010cne.1_Intron|TP53_uc010cng.1_3'UTR|TP53_uc010cnf.1_3'UTR|TP53_uc002gii.1_Frame_Shift_Ins_p.N213fs|TP53_uc010cni.1_3'UTR|TP53_uc010cnh.1_3'UTR|TP53_uc002gij.2_Frame_Shift_Ins_p.N345fs|DL476313_uc021tpe.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	345	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.				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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.E346*(4)|p.L344fs*23(3)|p.N345fs*25(3)|p.L344P(3)|p.L344fs*22(2)|p.R342_N345delRELN(2)|p.L344R(2)|p.E346A(1)|p.?(1)|p.I332fs*5(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)		TCCAAGGCCTCATTCAGCTCTC	0.579		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)			16	9	---	---	---	---						A	7573992	-	A	7573991	7	5	287	1	0	1	1	0	0	0	0	0	16378	835	29	0	153	0	TP53	17	7573991	Frame_Shift_Ins	INS	-	TCGA-QH-A65S-01A-11D-A29Q-08		7573991	73621219	19	12325											
BSG	682	broad.mit.edu	37	chr19	581456	581456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctccaagggctccgaccagGccatcatcacgctccgcgtg	7	6	11	17	4	2	0	2	0	0	0	5	1	5	0	5	2	0	3	5	2	1	0			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr19:581456G>A	uc002loz.3	+	5	1032	c.934G>A	c.(934-936)Gcc>Acc	p.A312T	BSG_uc002loy.3_Missense_Mutation_p.A132T|BSG_uc021ulx.1_Missense_Mutation_p.A103T|BSG_uc002lpa.3_Missense_Mutation_p.A196T|BSG_uc002lpc.3_Missense_Mutation_p.A359T	NM_001728	NP_001719	P35613	BASI_HUMAN	Homo sapiens basigin (Ok blood group) (BSG), transcript variant 1, mRNA.	312	Ig-like V-type.				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CTCCGACCAGGCCATCATCAC	0.647													8	12					0	0	1	0	0	A	581456	G	A	581456	3	1	287	1	0	0	0	0	1	0	0	0	1529	1203	42	3	992	3	BSG	19	581456	Missense_Mutation	SNP	G	TCGA-QH-A65S-01A-11D-A29Q-08		581456	58547527	20	12326											
BCAM	4059	broad.mit.edu	37	chr19	45323986	45323986	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaggggagccagggctgagCcactcggggtcggagcaacc	8	3	17	13	2	0	1	0	1	0	0	2	3	0	3	4	6	4	2	4	6	1	0			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr19:45323986C>A	uc002ozu.3	+	13	1832	c.1788C>A	c.(1786-1788)agC>agA	p.S596R		NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	596					cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CAGGGCTGAGCCACTCGGGGT	0.716													2	1					1	1	1	1	0	A	45323986	C	A	45323986	3	1	287	1	0	0	0	0	1	0	0	0	1344	738	26	5	1846	5	BCAM	19	45323986	Missense_Mutation	SNP	C	TCGA-QH-A65S-01A-11D-A29Q-08	44742530	45323986	13804997	21	12327											
PPP1R16B	26051	broad.mit.edu	37	chr20	37531389	37531389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatccactgcatgatcgCagcgggccaggacctggact	9	6	13	13	2	0	1	0	1	0	0	2	4	1	4	3	4	2	2	3	4	0	0			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr20:37531389C>T	uc002xje.3	+	5	839	c.650C>T	c.(649-651)gCa>gTa	p.A217V	PPP1R16B_uc010ggc.3_Missense_Mutation_p.A217V	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	217					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				TGCATGATCGCAGCGGGCCAG	0.577													4	110					0	0	1	0	0	T	37531389	C	T	37531389	3	4	287	1	0	0	0	0	1	0	0	0	12366	710	25	3	668	3	PPP1R16B	20	37531389	Missense_Mutation	SNP	C	TCGA-QH-A65S-01A-11D-A29Q-08		37531389	25494131	22	12328											
ATP9A	10079	broad.mit.edu	37	chr20	50314007	50314007	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttggatgttagaactctTcaccttcactgtgcctgcaa	10	13	7	11	0	3	1	2	0	1	1	3	2	3	2	2	1	4	2	2	1	4	4			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr20:50314007T>G	uc002xwg.1	-	4	451	c.451A>C	c.(451-453)Aag>Cag	p.K151Q	ATP9A_uc010gih.1_Intron|ATP9A_uc002xwf.1_5'UTR	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	151					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTAGAACTCTTCACCTTCACT	0.443													40	62					0	0	1	0	0	G	50314007	T	G	50314007	3	3	287	1	0	0	0	0	1	0	0	0	1198	1792	62	5	2788	5	ATP9A	20	50314007	Missense_Mutation	SNP	T	TCGA-QH-A65S-01A-11D-A29Q-08	12782618	50314007	12711513	23	12329											
FRMPD4	9758	broad.mit.edu	37	chrX	12736538	12736538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgactaccacttggccaagcGgatgtcatcactgcaaagcg	11	8	10	12	2	2	1	2	1	0	0	2	2	2	2	2	2	4	1	2	2	3	2			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chrX:12736538G>A	uc004cuz.2	+	15	4099	c.3593G>A	c.(3592-3594)cGg>cAg	p.R1198Q	FRMPD4_uc011mij.2_Missense_Mutation_p.R1190Q	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	1198					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TTGGCCAAGCGGATGTCATCA	0.582													6	129					0	0	1	0	0	A	12736538	G	A	12736538	3	1	287	1	0	0	0	0	1	0	0	0	6059	1116	39	2	3655	2	FRMPD4	23	12736538	Missense_Mutation	SNP	G	TCGA-QH-A65S-01A-11D-A29Q-08		12736538	142534022	24	12330											
FAM123B	139285	broad.mit.edu	37	chrX	63412447	63412447	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaggttctggtgttggAgaaacttttggcccaggggc	8	10	17	6	0	1	2	0	0	1	2	1	4	1	2	1	7	1	2	1	7	2	4			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chrX:63412447A>G	uc022byb.1	-	0	720	c.720T>C	c.(718-720)tcT>tcC	p.S240S	FAM123B_uc004dvo.3_Silent_p.S240S	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	240					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						CTGGTGTTGGAGAAACTTTTG	0.537													28	88					0	0	1	0	0	G	63412447	A	G	63412447	2	3	287	1	0	0	0	0	0	0	0	1	5423	291	11	4		4	FAM123B	23	63412447	Silent	SNP	A	TCGA-QH-A65S-01A-11D-A29Q-08	50675909	63412447	91858113	25	12331											
ATRX	546	broad.mit.edu	37	chrX	76918915	76918915	+	Frame_Shift_Del	DEL	T	T	-																															cttctttatgctctttaggcTttgtctttttttcttctcca																										TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chrX:76918915delT	uc004ecp.4	-	11	4308	c.4076delA	c.(4075-4077)aagfs	p.K1359fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K1321fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K1144fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K1291fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1359					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTCTTTAGGCTTTGTCTTTTT	0.383			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						17	29	---	---	---	---						-	76918915	T	-	76918915	7	5	287	1	0	1	0	1	0	0	0	0	1208	1609	56	0	3498	0	ATRX	23	76918915	Frame_Shift_Del	DEL	T	TCGA-QH-A65S-01A-11D-A29Q-08	13506468	76918915	78351645	26	12332											
PCDH19	57526	broad.mit.edu	37	chrX	99662601	99662601	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccagcacgctgacggtgAccttgcagtgtgccgggatg	6	9	15	11	3	0	2	0	2	0	0	1	3	1	3	3	2	3	3	3	2	0	1			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chrX:99662601A>G	uc010nmz.3	-	0	2671	c.995T>C	c.(994-996)gTc>gCc	p.V332A	PCDH19_uc004efw.4_Missense_Mutation_p.V332A|PCDH19_uc004efx.4_Missense_Mutation_p.V332A	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	332	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GCTGACGGTGACCTTGCAGTG	0.602													20	48					0	0	1	0	0	G	99662601	A	G	99662601	3	3	287	1	0	0	0	0	1	0	0	0	11514	275	10	3	2475	3	PCDH19	23	99662601	Missense_Mutation	SNP	A	TCGA-QH-A65S-01A-11D-A29Q-08	22743686	99662601	55607959	27	12333											
KCNAB2	8514	broad.mit.edu	37	chr1	6155592	6155592	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcttttcctcttcaggaGtgggcgccatgacctggtcc	4	12	11	14	1	2	1	1	1	1	0	4	2	4	2	5	3	1	1	5	3	0	3			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr1:6155592G>T	uc009vlv.2	+	12	1255	c.712G>T	c.(712-714)Gtg>Ttg	p.V238L	KCNAB2_uc001alv.2_Missense_Mutation_p.V238L|KCNAB2_uc001alw.2_Missense_Mutation_p.V224L|KCNAB2_uc001alx.2_Missense_Mutation_p.V238L|KCNAB2_uc001aly.2_Missense_Mutation_p.V286L|KCNAB2_uc009vlw.2_Missense_Mutation_p.V171L|KCNAB2_uc001alu.3_Missense_Mutation_p.V238L	NM_001199861	NP_001186790	Q13303	KCAB2_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 2 (KCNAB2), transcript variant 4, mRNA.	238						cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.V238L(2)		large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTTCAGGAGTGGGCGCCAT	0.632													45	41					1.76056e-25	1.9396e-25	1	1	0	T	6155592	G	T	6155592	3	4	288	1	0	0	0	0	1	0	0	0	8010	1029	36	5	758	5	KCNAB2	1	6155592	Missense_Mutation	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08		6155592	243095029	1	12334											
NOTCH2	4853	broad.mit.edu	37	chr1	120491184	120491184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcaatgtcaatggtacaccGctgacctaggaacacagggc	12	7	11	11	1	2	1	2	1	0	0	2	2	2	2	2	3	2	2	2	3	5	2			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr1:120491184G>A	uc001eik.3	-	16	2902	c.2605C>T	c.(2605-2607)Cgg>Tgg	p.R869W	NOTCH2_uc001eil.3_Missense_Mutation_p.R869W	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	869	EGF-like 22.				Notch receptor processing|Notch signaling pathway|anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGGTACACCGCTGACCTAGG	0.512			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome		OREG0013733	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	32					0	0	1	0	0	A	120491184	G	A	120491184	3	1	288	1	0	0	0	0	1	0	0	0	10548	1086	38	1	4882	1	NOTCH2	1	120491184	Missense_Mutation	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08	114335592	120491184	128759437	2	12335											
NCKAP1	10787	broad.mit.edu	37	chr2	183866755	183866755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaatcatctggccaaggcGtgggtattctctgtcactta	9	12	9	11	1	4	0	2	0	2	0	5	0	4	0	1	3	0	1	1	3	4	3			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr2:183866755G>A	uc002upc.3	-	5	931	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	NCKAP1_uc002upb.3_Missense_Mutation_p.R183C	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	Homo sapiens NCK-associated protein 1 (NCKAP1), transcript variant 1, mRNA.	177					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGGCCAAGGCGTGGGTATTCT	0.363													8	77					0	0	1	0	0	A	183866755	G	A	183866755	3	1	288	1	0	0	0	0	1	0	0	0	10221	1145	40	1	2961	1	NCKAP1	2	183866755	Missense_Mutation	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08		183866755	59332618	3	12336											
ZC3H15	55854	broad.mit.edu	37	chr2	187371527	187371527	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggtattactgtagccagtCttgaaagattcagcacatat	13	12	8	8	0	2	2	1	1	1	1	2	2	2	2	1	1	3	3	1	1	5	6			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr2:187371527C>G	uc002upo.3	+	8	1279	c.1054C>G	c.(1054-1056)Ctt>Gtt	p.L352V	ZC3H15_uc021vts.1_5'Flank	NM_018471	NP_060941	Q8WU90	ZC3HF_HUMAN	Homo sapiens zinc finger CCCH-type containing 15 (ZC3H15), mRNA.	352						cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			TGTAGCCAGTCTTGAAAGATT	0.348													23	61					0	0	1	0	0	G	187371527	C	G	187371527	3	3	288	1	0	0	0	0	1	0	0	0	17564	913	32	5	1088	5	ZC3H15	2	187371527	Missense_Mutation	SNP	C	TCGA-QH-A65V-01A-11D-A29Q-08	3504772	187371527	55827846	4	12337											
COL5A2	1290	broad.mit.edu	37	chr2	189898826	189898826	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaactggcccaatttcaacGccgaattcctggtctgtgcc	9	10	8	14	2	2	0	1	0	1	0	3	1	3	0	4	2	3	0	4	2	4	2	rs142895373		TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr2:189898826G>A	uc002uqk.3	-	53	4745	c.4470C>T	c.(4468-4470)ggC>ggT	p.G1490G	COL5A2_uc010frx.3_Silent_p.G1066G	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	1490	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.G1490G(2)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CAATTTCAACGCCGAATTCCT	0.473													24	54					0	0	1	0	0	A	189898826	G	A	189898826	2	1	288	1	0	0	0	0	0	0	0	1	3697	1074	38	1		1	COL5A2	2	189898826	Silent	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08	2527299	189898826	53300547	5	12338											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								21	41					0	0	1	0	0	T	209113112	C	T	209113112	3	4	288	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A65V-01A-11D-A29Q-08	19214286	209113112	34086261	6	12339											
SCAND3	114821	broad.mit.edu	37	chr6	28540332	28540332	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaagcattaagatcattaaAaatactgaagatatcagaca	21	9	6	5	0	2	5	2	1	0	4	2	5	2	5	0	0	2	1	0	0	8	4			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr6:28540332A>G	uc003nlo.3	-	3	3952	c.3334T>C	c.(3334-3336)Ttt>Ctt	p.F1112L		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	1112				F -> FF (in Ref. 3; CAD28490).	DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						agatcattaaaaatactgaag	0.353													20	37					0	0	1	0	0	G	28540332	A	G	28540332	3	3	288	1	0	0	0	0	1	0	0	0	13876	14	1	3	647	3	SCAND3	6	28540332	Missense_Mutation	SNP	A	TCGA-QH-A65V-01A-11D-A29Q-08		28540332	142574735	7	12340											
RUNX2	860	broad.mit.edu	37	chr6	45390463	45390463	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacagcagcagcagcagcaGcaacagcagcagcagcagca	16	0	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	0			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr6:45390463G>A	uc011dvx.2	+	2	402	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_uc011dvy.2_Silent_p.Q64Q|RUNX2_uc003oxt.3_Silent_p.Q50Q	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	64	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736													4	71					0	0	1	0	0	A	45390463	G	A	45390463	2	1	288	1	0	0	0	0	0	0	0	1	13748	962	34	3		3	RUNX2	6	45390463	Silent	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08	16850131	45390463	125724604	8	12341											
SUMF2	25870	broad.mit.edu	37	chr7	56142409	56142409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaggaagagtgggagtttgCcgcccgagggggcttgaagg	8	6	21	6	2	0	2	0	1	0	1	0	6	0	5	2	6	1	2	2	6	2	2			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr7:56142409C>T	uc011kcw.2	+	4	603	c.572C>T	c.(571-573)gCc>gTc	p.A191V	PSPH_uc003trj.3_Intron|SUMF2_uc011kcv.2_Intron|SUMF2_uc003trt.3_Missense_Mutation_p.A84V|SUMF2_uc003trv.3_Missense_Mutation_p.A191V|SUMF2_uc011kcy.2_Missense_Mutation_p.A176V|SUMF2_uc011kcz.2_Intron|SUMF2_uc003trx.3_Intron|SUMF2_uc011kda.2_Intron|SUMF2_uc011kcx.2_Intron	NM_015411	NP_001139805	Q8NBJ7	SUMF2_HUMAN	Homo sapiens sulfatase modifying factor 2 (SUMF2), transcript variant 2, mRNA.	172						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGGGAGTTTGCCGCCCGAGGG	0.567											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	172					0	0	1	0	0	T	56142409	C	T	56142409	3	4	288	1	0	0	0	0	1	0	0	0	15383	739	26	3	590	3	SUMF2	7	56142409	Missense_Mutation	SNP	C	TCGA-QH-A65V-01A-11D-A29Q-08		56142409	102996254	9	12342											
STAG3L4	64940	broad.mit.edu	37	chr7	66771046	66771046	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctggagcttgttaactttTtcatctgatcttgtggatgt	6	20	9	6	0	4	1	1	1	3	0	4	3	4	3	0	2	2	2	0	2	1	6			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr7:66771046T>G	uc003tvt.4	+	1	321	c.63T>G	c.(61-63)ttT>ttG	p.F21L	STAG3L4_uc010laj.3_Non-coding_Transcript			Q8TBR4	STG34_HUMAN	Homo sapiens stromal antigen 3-like 4 (STAG3L4), transcript variant 2, non-coding RNA.	21										endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				TGTTAACTTTTTCATCTGATC	0.388													52	81					0	0	1	0	0	G	66771046	T	G	66771046	3	3	288	1	0	0	0	0	1	0	0	0	15246	1838	64	5	65	5	STAG3L4	7	66771046	Missense_Mutation	SNP	T	TCGA-QH-A65V-01A-11D-A29Q-08	10628637	66771046	92367617	10	12343											
PCLO	27445	broad.mit.edu	37	chr7	82578793	82578793	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaagaatcactcttaccGtatagccctcggtatactga	13	11	7	10	2	2	3	1	2	1	1	3	3	2	3	2	1	3	2	2	1	8	5			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr7:82578793G>A	uc003uhx.2	-	6	11401	c.11112_splice	c.e6+1	p.T3704_splice	PCLO_uc003uhv.2_Splice_Site_p.T3704_splice|PCLO_uc010lec.3_Splice_Site_p.T669_splice	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3635					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CACTCTTACCGTATAGCCCTC	0.463													66	165					0	0	1	0	0	A	82578793	G	A	82578793	5	1	288	1	0	0	0	0	0	0	1	0	11583	1159	40	1	4414	1	PCLO	7	82578793	Splice_Site	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08	15807747	82578793	76559870	11	12344											
SND1	27044	broad.mit.edu	37	chr7	127631024	127631024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaatgccccagaggagcccGaaacctcccaggcttggtgc	9	6	12	14	1	0	2	0	1	0	1	1	4	1	3	5	3	4	1	5	3	2	1			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr7:127631024G>A	uc003vmi.3	+	15	1920	c.1694G>A	c.(1693-1695)cGa>cAa	p.R565Q	SND1_uc010lle.3_Missense_Mutation_p.R218Q	NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA.	565	TNase-like 4.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|melanosome|nucleus	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						AGAGGAGCCCGAAACCTCCCA	0.542													12	24					0	0	1	0	0	A	127631024	G	A	127631024	3	1	288	1	0	0	0	0	1	0	0	0	14844	1058	37	2	1756	2	SND1	7	127631024	Missense_Mutation	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08	45052231	127631024	31507639	12	12345											
TRPV6	55503	broad.mit.edu	37	chr7	142571891	142571891	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcgcatcaggtcgccaaaaAtcatctagaaggagcaggag	15	6	11	9	2	3	1	2	0	1	1	5	3	3	3	1	3	1	2	1	3	4	1			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr7:142571891A>G	uc003wbx.2	-	11	1686	c.1457T>C	c.(1456-1458)aTt>aCt	p.I486T	TRPV6_uc003wbw.1_Missense_Mutation_p.I272T|TRPV6_uc010lou.1_Missense_Mutation_p.I357T	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	486					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GTCGCCAAAAATCATCTAGAA	0.547													5	35					0	0	1	0	0	G	142571891	A	G	142571891	3	3	288	1	0	0	0	0	1	0	0	0	16597	101	4	3	736	3	TRPV6	7	142571891	Missense_Mutation	SNP	A	TCGA-QH-A65V-01A-11D-A29Q-08	14940867	142571891	16566772	13	12346											
TNC	3371	broad.mit.edu	37	chr9	117848575	117848575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacatgccattcacacagcGgccgtgctggtgacagtcat	10	8	10	13	2	2	1	2	1	0	0	2	1	2	1	2	2	3	1	2	2	0	1			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr9:117848575G>A	uc004bjj.4	-	2	1847	c.1435C>T	c.(1435-1437)Cgc>Tgc	p.R479C	TNC_uc010mvf.3_Missense_Mutation_p.R479C|TNC_uc022bmj.1_Missense_Mutation_p.R479C	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	479	EGF-like 11.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TTCACACAGCGGCCGTGCTGG	0.582													89	191					0	0	1	0	0	A	117848575	G	A	117848575	3	1	288	1	0	0	0	0	1	0	0	0	16267	1116	39	2	5274	2	TNC	9	117848575	Missense_Mutation	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08		117848575	23364856	14	12347											
PWWP2B	170394	broad.mit.edu	37	chr10	134218474	134218474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgcggcggcgtctgtcccGcaaccgcgacccggggcgcc	4	3	15	19	9	1	0	0	0	1	0	2	1	2	0	4	4	1	1	4	4	1	0			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr10:134218474G>A	uc001lll.4	+	1	499	c.470G>A	c.(469-471)cGc>cAc	p.R157H	PWWP2B_uc009ybe.3_Missense_Mutation_p.R157H	NM_138499	NP_612508	Q6NUJ5	PWP2B_HUMAN	Homo sapiens PWWP domain containing 2B (PWWP2B), transcript variant 1, mRNA.	157										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CGTCTGTCCCGCAACCGCGAC	0.726													14	23					0	0	1	0	0	A	134218474	G	A	134218474	3	1	288	1	0	0	0	0	1	0	0	0	12846	1087	38	1	476	1	PWWP2B	10	134218474	Missense_Mutation	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08		134218474	1316273	15	12348											
OR5AS1	219447	broad.mit.edu	37	chr11	55798589	55798589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttgagcatcaagtcctcagGtggcagaagcaaaacattct	13	9	10	9	0	3	2	2	1	1	1	4	2	4	2	1	2	3	4	1	2	4	2			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr11:55798589G>T	uc010riw.2	+	0	695	c.695G>T	c.(694-696)gGt>gTt	p.G232V		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					AAGTCCTCAGGTGGCAGAAGC	0.453													67	112					4.13886e-29	4.63838e-29	1	1	0	T	55798589	G	T	55798589	3	4	288	1	0	0	0	0	1	0	0	0	11146	1261	44	5	697	5	OR5AS1	11	55798589	Missense_Mutation	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08		55798589	79207927	16	12349											
HYLS1	219844	broad.mit.edu	37	chr11	125770123	125770123	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgaccttgcaaatggtgTcatacccaggaagcttccct	9	12	9	11	0	1	1	1	1	0	0	2	2	2	2	3	2	3	2	3	2	3	4			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr11:125770123T>C	uc009zbv.3	+	3	1394	c.860T>C	c.(859-861)gTc>gCc	p.V287A	HYLS1_uc001qcx.4_Missense_Mutation_p.V287A|PUS3_uc001qcy.2_Intron|HYLS1_uc021qrw.1_Missense_Mutation_p.V287A	NM_145014	NP_659451	Q96M11	HYLS1_HUMAN	Homo sapiens hydrolethalus syndrome 1 (HYLS1), transcript variant 1, mRNA.	287						centrosome|nucleus				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		GCAAATGGTGTCATACCCAGG	0.403													27	44					0	0	1	0	0	C	125770123	T	C	125770123	3	2	288	1	0	0	0	0	1	0	0	0	7469	1667	58	3	862	3	HYLS1	11	125770123	Missense_Mutation	SNP	T	TCGA-QH-A65V-01A-11D-A29Q-08	69971534	125770123	9236393	17	12350											
ZC3H13	23091	broad.mit.edu	37	chr13	46619598	46619598	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgggatgtgctatcagatatAgtcttggtattttccactgt	8	16	10	7	1	2	1	1	0	1	1	3	2	3	2	1	2	1	2	1	2	4	7			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr13:46619598A>G	uc010tfw.1	-	0	51	c.45T>C	c.(43-45)acT>acC	p.T15T	ZC3H13_uc001vas.1_Silent_p.T15T|ZC3H13_uc001vat.1_Silent_p.T15T	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	15							nucleic acid binding|zinc ion binding	p.T15S(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TATCAGATATAGTCTTGGTAT	0.413													52	105					0	0	1	0	0	G	46619598	A	G	46619598	2	3	288	1	0	0	0	0	0	0	0	1	17562	407	15	4		4	ZC3H13	13	46619598	Silent	SNP	A	TCGA-QH-A65V-01A-11D-A29Q-08		46619598	68550280	18	12351											
C15orf43	145645	broad.mit.edu	37	chr15	45248953	45248953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggttggttttgcggcagcGttagccaggatctgaggcaa	7	10	16	8	3	1	1	0	1	1	0	1	2	1	2	1	5	3	5	1	5	2	4			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr15:45248953G>A	uc001zuk.3	+	0	51	c.37G>A	c.(37-39)Gtt>Att	p.V13I		NM_152448	NP_689661	Q8NHR7	CO043_HUMAN	Homo sapiens chromosome 15 open reading frame 43 (C15orf43), mRNA.	13										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		TTGCGGCAGCGTTAGCCAGGA	0.582													26	78					0	0	1	0	0	A	45248953	G	A	45248953	3	1	288	1	0	0	0	0	1	0	0	0	1797	1145	40	1	39	1	C15orf43	15	45248953	Missense_Mutation	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08		45248953	57282439	19	12352											
PRR14	78994	broad.mit.edu	37	chr16	30664041	30664041	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacacctctttctcttccaGgtccccgtggtgccctcaaa	6	12	7	16	1	3	1	1	1	2	0	6	1	5	1	5	2	1	0	5	2	1	2	rs147414936		TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr16:30664041G>A	uc002dyy.3	+	4	451	c.193_splice	c.e4-1	p.V65_splice	PRR14_uc002dyz.3_Splice_Site|PRR14_uc002dza.3_Splice_Site_p.V65_splice|PRR14_uc002dzb.1_5'Flank	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	Homo sapiens proline rich 14 (PRR14), mRNA.	65										breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			TTCTCTTCCAGGTCCCCGTGG	0.587													4	107					0	0	1	0	0	A	30664041	G	A	30664041	5	1	288	1	0	0	0	0	0	0	1	0	12586	1014	35	3	202	3	PRR14	16	30664041	Splice_Site	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08		30664041	59690712	20	12353											
LONP2	83752	broad.mit.edu	37	chr16	48296697	48296697	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttctccacagactcaaaaAaatgcctcagtcaatgccag	14	9	5	13	0	4	1	3	0	1	1	5	1	4	1	3	0	2	0	3	0	4	1			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr16:48296697A>C	uc002efi.1	+	5	985	c.896A>C	c.(895-897)aAa>aCa	p.K299T	MIR548AE2_uc021thr.1_Intron|LONP2_uc010vgm.1_Non-coding_Transcript|LONP2_uc002efj.1_Missense_Mutation_p.K255T	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA.	299					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AGACTCAAAAAAATGCCTCAG	0.348													8	18					0	0	1	0	0	C	48296697	A	C	48296697	3	2	288	1	0	0	0	0	1	0	0	0	8893	14	1	5	918	5	LONP2	16	48296697	Missense_Mutation	SNP	A	TCGA-QH-A65V-01A-11D-A29Q-08	17632656	48296697	42058056	21	12354											
PSME3	10197	broad.mit.edu	37	chr17	40990763	40990763	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaggtcaaaatgtgggtaCagctcctgattcccaggata	11	10	10	10	0	1	1	1	1	0	0	4	2	4	2	3	3	2	2	3	3	4	3			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr17:40990763C>T	uc002ibq.3	+	6	686	c.460C>T	c.(460-462)Cag>Tag	p.Q154*	PSME3_uc002ibp.3_Nonsense_Mutation_p.Q80*|PSME3_uc002ibr.3_Nonsense_Mutation_p.Q141*|PSME3_uc002ibs.3_Nonsense_Mutation_p.Q152*|PSME3_uc010whd.2_Nonsense_Mutation_p.Q28*	NM_176863	NP_789839	P61289	PSME3_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki) (PSME3), transcript variant 2, mRNA.	141					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|viral reproduction	cytoplasm|nucleus|proteasome activator complex	MDM2 binding|endopeptidase activator activity|identical protein binding|p53 binding			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		AATGTGGGTACAGCTCCTGAT	0.463													29	51					0	0	1	0	0	T	40990763	C	T	40990763	4	4	288	1	0	0	0	0	0	1	0	0	12708	479	17	3	486	3	PSME3	17	40990763	Nonsense_Mutation	SNP	C	TCGA-QH-A65V-01A-11D-A29Q-08		40990763	40204447	22	12355											
AXIN2	8313	broad.mit.edu	37	chr17	63533498	63533498	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtggcttttgcatttcgaGtagcagtaatactcgctgcc	8	13	11	9	2	0	0	0	0	0	0	2	2	0	0	1	1	4	6	1	1	3	6			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr17:63533498G>A	uc002jfi.3	-	5	1945	c.1656C>T	c.(1654-1656)taC>taT	p.Y552Y	AXIN2_uc002jfh.3_Silent_p.Y552Y	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	Homo sapiens axin 2 (AXIN2), mRNA.	552					Wnt receptor signaling pathway involved in somitogenesis|cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|mRNA stabilization|maintenance of DNA repeat elements|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	GTPase activator activity|armadillo repeat domain binding|beta-catenin binding|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TGCATTTCGAGTAGCAGTAAT	0.627									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				4	138					0	0	1	0	0	A	63533498	G	A	63533498	2	1	288	1	0	0	0	0	0	0	0	1	1237	1024	36	3		3	AXIN2	17	63533498	Silent	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08	22542735	63533498	17661712	23	12356											
UNC13D	201294	broad.mit.edu	37	chr17	73826535	73826535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggccttgactgtcacaGcccccagctcctcagaggtg	8	7	12	14	0	2	2	2	1	0	1	3	3	3	3	4	3	2	1	4	3	0	1			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr17:73826535G>A	uc002jpp.3	-	28	3118	c.2738C>T	c.(2737-2739)gCt>gTt	p.A913V		NM_199242	NP_954712	Q70J99	UN13D_HUMAN	Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.	913	C2 2.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GACTGTCACAGCCCCCAGCTC	0.682									Familial Hemophagocytic Lymphohistiocytosis		OREG0024741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	10					0	0	1	0	0	A	73826535	G	A	73826535	3	1	288	1	0	0	0	0	1	0	0	0	16984	971	34	3	550	3	UNC13D	17	73826535	Missense_Mutation	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08	10293037	73826535	7368675	24	12357											
ANKRD30B	374860	broad.mit.edu	37	chr18	14843023	14843023	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttcttccaaacccgtttagCctgccactgaaatgcaaaac	12	11	5	13	1	1	1	0	1	1	0	2	1	2	1	4	0	5	2	4	0	5	4			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr18:14843023C>G	uc010dlo.2	+	33	2932	c.2752_splice	c.e33-1	p.P918_splice	ANKRD30B_uc021uhy.1_Splice_Site_p.P918_splice|ANKRD30B_uc010xal.1_Splice_Site_p.P60_splice	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	1003										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ACCCGTTTAGCCTGCCACTGA	0.289													3	9					0	0	1	0	0	G	14843023	C	G	14843023	5	3	288	1	0	0	0	0	0	0	1	0	659	753	26	5	2882	5	ANKRD30B	18	14843023	Splice_Site	SNP	C	TCGA-QH-A65V-01A-11D-A29Q-08		14843023	63234225	25	12358											
CELF5	60680	broad.mit.edu	37	chr19	3251064	3251064	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgagcagaagaccttgcccgGagtgagtcctgtgtggtgtc	7	9	15	10	2	0	3	0	1	0	2	2	5	1	4	3	2	2	1	3	2	1	1			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr19:3251064G>T	uc002lxm.3	+	2	379	c.342_splice	c.e2+1	p.G114_splice	CELF5_uc010dtj.2_Splice_Site_p.G114_splice|CELF5_uc002lxl.2_Splice_Site_p.G114_splice|CELF5_uc010xhg.2_Splice_Site	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	Homo sapiens CUGBP, Elav-like family member 5 (CELF5), transcript variant 1, mRNA.	114	RRM 1.				mRNA processing	cytoplasm|nucleus	RNA binding|nucleotide binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						ACCTTGCCCGGAGTGAGTCCT	0.602													4	81					0.00909568	0.0092378	1	1	0	T	3251064	G	T	3251064	5	4	288	1	0	0	0	0	0	0	1	0	3219	1188	41	5	347	5	CELF5	19	3251064	Splice_Site	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08		3251064	55877919	26	12359											
EBI3	10148	broad.mit.edu	37	chr19	4236975	4236975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttcatcctcagggctgtgCggccccgagccaggtactac	6	8	11	16	2	2	0	2	0	0	0	3	1	3	0	5	3	4	2	5	3	2	3			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr19:4236975C>T	uc002lzu.3	+	4	588	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W		NM_005755	NP_005746	Q14213	IL27B_HUMAN	Homo sapiens Epstein-Barr virus induced 3 (EBI3), mRNA.	194	Fibronectin type-III 2.				T-helper 1 type immune response|humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGCTGTGCGGCCCCGAGC	0.607													4	120					0	0	1	0	0	T	4236975	C	T	4236975	3	4	288	1	0	0	0	0	1	0	0	0	4883	759	27	1	598	1	EBI3	19	4236975	Missense_Mutation	SNP	C	TCGA-QH-A65V-01A-11D-A29Q-08	985911	4236975	54892008	27	12360											
CNTD2	79935	broad.mit.edu	37	chr19	40730639	40730639	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatacctacgtgcacctggAccagccagtctaccaccagg	11	6	9	15	1	1	1	0	0	1	1	1	2	1	2	6	2	5	1	6	2	3	3			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr19:40730639A>C	uc010xvi.2	-	1	396	c.347T>G	c.(346-348)gTc>gGc	p.V116G	CNTD2_uc002ond.3_Intron	NM_024877	NP_079153	B4DX65	B4DX65_HUMAN	Homo sapiens cyclin N-terminal domain containing 2 (CNTD2), transcript variant 2, mRNA.	116					regulation of cyclin-dependent protein kinase activity		protein kinase binding			lung(1)|prostate(1)	2						GTGCACCTGGACCAGCCAGTC	0.697													4	17					0	0	1	0	0	C	40730639	A	C	40730639	3	2	288	1	0	0	0	0	1	0	0	0	3636	275	10	5	592	5	CNTD2	19	40730639	Missense_Mutation	SNP	A	TCGA-QH-A65V-01A-11D-A29Q-08	36493664	40730639	18398344	28	12361											
CIC	23152	broad.mit.edu	37	chr19	42799059	42799059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttgaagatccgtgaggtgCgccagaagatcatgcaggct	11	8	14	8	2	1	5	1	2	0	3	2	5	2	5	2	2	2	3	2	2	2	1			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr19:42799059C>T	uc002otf.1	+	19	4583	c.4543C>T	c.(4543-4545)Cgc>Tgc	p.R1515C		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R1515L(1)|p.R1515H(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCGTGAGGTGCGCCAGAAGAT	0.632			"Mis, F, S"		oligodendroglioma								22	50					0	0	1	0	0	T	42799059	C	T	42799059	3	4	288	1	0	0	0	0	1	0	0	0	3424	768	27	1	4621	1	CIC	19	42799059	Missense_Mutation	SNP	C	TCGA-QH-A65V-01A-11D-A29Q-08	2068420	42799059	16329924	29	12362											
ZFP112	7771	broad.mit.edu	37	chr19	44892133	44892133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactcttcttgaaggttcaCgatataatcctgactcacag	12	12	6	11	1	4	2	2	2	2	0	5	3	5	2	1	1	0	1	1	1	3	5	rs140033872	by1000genomes	TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr19:44892133C>T	uc010xxa.2	-	3	338	c.295G>A	c.(295-297)Gtg>Atg	p.V99M	ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Missense_Mutation_p.V92M	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 285 (ZNF285), mRNA.	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						TGAAGGTTCACGATATAATCC	0.418													4	69					0	0	1	0	0	T	44892133	C	T	44892133	3	4	288	1	0	0	0	0	1	0	0	0	17635	536	19	1		1	ZFP112	19	44892133	Missense_Mutation	SNP	C	TCGA-QH-A65V-01A-11D-A29Q-08	2093074	44892133	14236850	30	12363											
SHANK1	50944	broad.mit.edu	37	chr19	51165085	51165085	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggccacctggtgacctctgGccttgggagatgagggcagg	6	7	18	10	0	1	3	0	2	1	1	1	4	1	3	4	6	0	1	4	6	0	1			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr19:51165085G>A	uc002psx.1	-	23	6643	c.6624_splice	c.e23+1		SHANK1_uc002psw.1_Splice_Site	NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.						cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GTGACCTCTGGCCTTGGGAGA	0.612													7	7					0	0	1	0	0	A	51165085	G	A	51165085	5	1	288	1	0	0	0	0	0	0	1	0	14264	1217	42	3		3	SHANK1	19	51165085	Splice_Site	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08	6272952	51165085	7963898	31	12364											
CD40	958	broad.mit.edu	37	chr20	44751286	44751286	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagaagggcacctcagaAacagacaccatctgcacctg	14	4	9	14	0	2	3	1	0	1	3	2	3	2	3	3	1	3	3	3	1	2	0			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr20:44751286A>G	uc002xrg.1	+	3	371	c.294A>G	c.(292-294)gaA>gaG	p.E98E	CD40_uc002xrf.1_Silent_p.E98E|CD40_uc002xrh.1_Silent_p.E98E|CD40_uc002xrj.1_Non-coding_Transcript|CD40_uc002xrk.1_Non-coding_Transcript	NM_001250	NP_001241	P25942	TNR5_HUMAN	Homo sapiens CD40 molecule, TNF receptor superfamily member 5 (CD40), transcript variant 1, mRNA.	98					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of endothelial cell apoptosis|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	GCACCTCAGAAACAGACACCA	0.607									Immune Deficiency with Hyper-IgM				38	81					0	0	1	0	0	G	44751286	A	G	44751286	2	3	288	1	0	0	0	0	0	0	0	1	3015	11	1	3		3	CD40	20	44751286	Silent	SNP	A	TCGA-QH-A65V-01A-11D-A29Q-08		44751286	18274234	32	12365											
XG	7499	broad.mit.edu	37	chrX	2670333	2670333	+	Frame_Shift_Del	DEL	A	A	-																															accatggagagctggtggggActtccctgtcttgcgttcct																										TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chrX:2670333delA	uc004cqp.3	+	0	241	c.18delA	c.(16-18)ggafs	p.G6fs	XG_uc010ndb.2_Non-coding_Transcript|XG_uc011mhg.2_Frame_Shift_Del_p.G6fs	NM_001141919	NP_001135391	P55808	XG_HUMAN	Homo sapiens Xg blood group (XG), transcript variant 2, mRNA.	6						integral to membrane|plasma membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GCTGGTGGGGACTTCCCTGTC	0.532													40	111	---	---	---	---						-	2670333	A	-	2670333	7	5	288	1	0	1	0	1	0	0	0	0	17424	262	10	0	20	0	XG	23	2670333	Frame_Shift_Del	DEL	A	TCGA-QH-A65V-01A-11D-A29Q-08		2670333	152600227	33	12366											
MID1IP1	58526	broad.mit.edu	37	chrX	38664318	38664318	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcccagcttgctgcgcgAcgtgcccctggctgaccccg	3	7	14	17	4	0	1	0	1	0	0	0	2	0	1	5	2	5	3	5	2	0	1			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chrX:38664318A>T	uc022buw.1	+	0	119	c.119A>T	c.(118-120)gAc>gTc	p.D40V	MID1IP1_uc004dei.4_Missense_Mutation_p.D40V|MID1IP1_uc010ngz.3_Missense_Mutation_p.D40V|MID1IP1_uc004dej.4_Missense_Mutation_p.D40V	NM_021242	NP_067065	Q9NPA3	M1IP1_HUMAN	Homo sapiens MID1 interacting protein 1 (gastrulation specific G12 homolog (zebrafish)) (MID1IP1), transcript variant 1, mRNA.	40					lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus		p.D40N(1)		kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						TTGCTGCGCGACGTGCCCCTG	0.632													31	48					0	0	1	0	0	T	38664318	A	T	38664318	3	4	288	1	0	0	0	0	1	0	0	0	9577	275	10	5	121	5	MID1IP1	23	38664318	Missense_Mutation	SNP	A	TCGA-QH-A65V-01A-11D-A29Q-08	35993985	38664318	116606242	34	12367											
EXTL1	2134	broad.mit.edu	37	chr1	26349229	26349229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggcttctcccttctccGcctggcattgcctcccagac	4	10	10	17	1	2	1	0	0	2	1	5	2	3	2	5	3	1	2	5	3	0	3			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr1:26349229G>A	uc001blf.3	+	0	959	c.92G>A	c.(91-93)cGc>cAc	p.R31H		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	Homo sapiens exostoses (multiple)-like 1 (EXTL1), mRNA.	31					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	p.L30F(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCTTCTCCGCCTGGCATTG	0.657													28	11					0	0	1	0	0	A	26349229	G	A	26349229	3	1	289	1	0	0	0	0	1	0	0	0	5325	1087	38	1	94	1	EXTL1	1	26349229	Missense_Mutation	SNP	G	TCGA-QH-A65Z-01A-11D-A29Q-08		26349229	222901392	1	12368											
SLC1A7	6512	broad.mit.edu	37	chr1	53553683	53553684	+	Frame_Shift_Del	DEL	AG	AG	-																															ccctgcagctccgcaggctcAgacattggtctccagctcac																										TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr1:53553683_53553684delAG	uc021onn.1	-	10	2025_2026	c.1857_1858delCT	c.(1855-1860)gtctgafs	p.V619fs	SLC1A7_uc021onm.1_3'UTR|SLC1A7_uc001cux.3_Frame_Shift_Del_p.V213fs|SLC1A7_uc001cuy.3_Frame_Shift_Del_p.V560fs|SLC1A7_uc021ono.1_Non-coding_Transcript	NM_006671	NP_006662	O00341	EAA5_HUMAN	Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	560						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	CCGCAGGCTCAGACATTGGTCT	0.663													18	20	---	---	---	---						-	53553684	AG	-	53553683	7	5	289	1	0	1	0	1	0	0	0	0	14437	201	7	0	5	0	SLC1A7	1	53553683	Frame_Shift_Del	DEL	AG	TCGA-QH-A65Z-01A-11D-A29Q-08	27204454	53553683	195696938	2	12369											
G0S2	50486	broad.mit.edu	37	chr1	209849305	209849305	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggacacggtcctcggCggccgggccctgtccaaccg	6	4	14	17	5	0	0	0	0	0	0	3	1	2	1	5	5	2	1	5	5	1	0			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr1:209849305C>T	uc021pim.1	+	0	276	c.276C>T	c.(274-276)ggC>ggT	p.G92G	G0S2_uc001hhi.4_Silent_p.G92G	NM_015714	NP_056529	P27469	G0S2_HUMAN	Homo sapiens G0/G1switch 2 (G0S2), mRNA.	92					cell cycle					large_intestine(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.041)		CGGTCCTCGGCGGCCGGGCCC	0.667													13	22					0	0	1	0	0	T	209849305	C	T	209849305	2	4	289	1	0	0	0	0	0	0	0	1	6139	755	27	1		1	G0S2	1	209849305	Silent	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08	156295622	209849305	39401316	3	12370											
RYR2	6262	broad.mit.edu	37	chr1	237957283	237957283	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaggccagtgggatagactCgtaatcaacacacagtgagt	15	7	11	8	1	1	2	1	1	0	1	2	3	1	3	1	2	1	1	1	2	4	2			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr1:237957283C>T	uc001hyl.1	+	94	14019	c.13899C>T	c.(13897-13899)ctC>ctT	p.L4633L	RYR2_uc010pyb.1_Silent_p.L66L	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4633					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.V4632I(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGGATAGACTCGTAATCAACA	0.363													15	18					0	0	1	0	0	T	237957283	C	T	237957283	2	4	289	1	0	0	0	0	0	0	0	1	13769	871	31	2		2	RYR2	1	237957283	Silent	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08	28107978	237957283	11293338	4	12371											
FZD7	8324	broad.mit.edu	37	chr2	202900715	202900715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcttcgtgtccctcttcCgtatccgcaccatcatgaaa	7	11	7	16	4	2	1	1	1	1	0	6	1	5	1	5	1	0	3	5	1	2	3			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr2:202900715C>T	uc002uyw.1	+	0	1406	c.1345C>T	c.(1345-1347)Cgt>Tgt	p.R449C		NM_003507	NP_003498	O75084	FZD7_HUMAN	Homo sapiens frizzled family receptor 7 (FZD7), mRNA.	449					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GTCCCTCTTCCGTATCCGCAC	0.612											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	93					0	0	1	0	0	T	202900715	C	T	202900715	3	4	289	1	0	0	0	0	1	0	0	0	6135	652	23	2	1347	2	FZD7	2	202900715	Missense_Mutation	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08		202900715	40298658	5	12372											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma								22	34					0	0	1	0	0	T	209113112	C	T	209113112	3	4	289	1	0	0	0	0	1	0	0	0	7494	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08	6212397	209113112	34086261	6	12373											
MAP2	4133	broad.mit.edu	37	chr2	210560876	210560878	+	In_Frame_Del	DEL	GAA	GAA	-																															ggagaccatctcctcatgatGaagaagagtttgaagtagaa																										TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr2:210560876_210560878delGAA	uc002vde.1	+	6	4230_4232	c.3982_3984delGAA	c.(3982-3984)gaadel	p.E1330del	MAP2_uc002vdc.1_In_Frame_Del_p.E1330del|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_In_Frame_Del_p.E1326del	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	1330					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TCCTCATGATGAAGAAGAGTTTG	0.537													7	136	---	---	---	---						-	210560878	GAA	-	210560876	7	5	289	1	0	1	0	1	0	0	0	0	9235	1291	45	0	3996	0	MAP2	2	210560876	In_Frame_Del	DEL	GAA	TCGA-QH-A65Z-01A-11D-A29Q-08	1447764	210560876	32638497	7	12374											
CTNNB1	1499	broad.mit.edu	37	chr3	41275294	41275294	+	Frame_Shift_Del	DEL	T	T	-																															ggcccagaatgcagttcgccTtcactatggactaccagttg																										TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr3:41275294delT	uc010hia.1	+	9	1616	c.1460delT	c.(1459-1461)cttfs	p.L487fs	CTNNB1_uc003ckq.2_Frame_Shift_Del_p.L487fs|CTNNB1_uc003ckp.2_Frame_Shift_Del_p.L487fs|CTNNB1_uc003ckr.2_Frame_Shift_Del_p.L487fs|CTNNB1_uc011azf.1_Frame_Shift_Del_p.L480fs|CTNNB1_uc011azg.1_Frame_Shift_Del_p.L415fs|CTNNB1_uc003cks.3_Frame_Shift_Del_p.L90fs|CTNNB1_uc003ckt.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	487					Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.R486C(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GCAGTTCGCCTTCACTATGGA	0.493		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				105	166	---	---	---	---						-	41275294	T	-	41275294	7	5	289	1	0	1	0	1	0	0	0	0	4016	1609	56	0	1490	0	CTNNB1	3	41275294	Frame_Shift_Del	DEL	T	TCGA-QH-A65Z-01A-11D-A29Q-08		41275294	156747136	8	12375											
MST1	4485	broad.mit.edu	37	chr3	49726195	49726195	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgtcagctcagggcctgcTggaccctgacctgagacctg	7	7	12	15	1	2	2	2	2	0	1	2	4	2	3	4	2	2	2	4	2	0	0			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr3:49726195T>C	uc003cxg.3	-	1	1	c.-71_splice	c.e1-1		MST1_uc011bcs.1_Splice_Site|MST1_uc010hkx.2_Splice_Site|MST1_uc011bct.1_Splice_Site|MST1_uc011bcu.1_Splice_Site|RNF123_uc003cxh.3_5'Flank	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.						proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGGGCCTGCTGGACCCTGAC	0.612											OREG0000235	type=REGULATORY REGION|Gene=MST1	6	6					0	0	1	0	0	C	49726195	T	C	49726195	5	2	289	1	0	0	0	0	0	0	1	0	9890	1594	55	4		4	MST1	3	49726195	Splice_Site	SNP	T	TCGA-QH-A65Z-01A-11D-A29Q-08	8450901	49726195	148296235	9	12376											
ECT2	1894	broad.mit.edu	37	chr3	172501694	172501694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccaagatttcatgcttttCtcaaggtaatgtgtgtttct	10	17	7	7	0	3	1	2	0	2	1	4	1	3	1	1	1	2	3	1	1	4	5			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr3:172501694C>T	uc003fii.2	+	14	1768	c.1630C>T	c.(1630-1632)Ctc>Ttc	p.L544F	ECT2_uc010hwv.1_Missense_Mutation_p.L575F|ECT2_uc003fih.2_Missense_Mutation_p.L543F|ECT2_uc003fij.1_Missense_Mutation_p.L544F|ECT2_uc003fik.1_Missense_Mutation_p.L544F|ECT2_uc003fil.1_Missense_Mutation_p.L575F	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene (ECT2), mRNA.	544	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TCATGCTTTTCTCAAGGTAAT	0.274													17	22					0	0	1	0	0	T	172501694	C	T	172501694	3	4	289	1	0	0	0	0	1	0	0	0	4901	913	32	3	1684	3	ECT2	3	172501694	Missense_Mutation	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08	122775499	172501694	25520736	10	12377											
RBM47	54502	broad.mit.edu	37	chr4	40440295	40440295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgagccatggcagccgCgcggtggctctcgtactcca	5	6	15	15	6	1	0	0	0	1	0	3	1	2	0	3	4	3	3	3	4	1	1			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr4:40440295C>T	uc003gvc.2	-	3	1326	c.616G>A	c.(616-618)Gcg>Acg	p.A206T	RBM47_uc003gvd.2_Missense_Mutation_p.A206T|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.A168T|RBM47_uc003gvg.1_Missense_Mutation_p.A206T	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	206	RRM 2.					nucleus	RNA binding|nucleotide binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						ATGGCAGCCGCGCGGTGGCTC	0.667													4	99					0	0	1	0	0	T	40440295	C	T	40440295	3	4	289	1	0	0	0	0	1	0	0	0	13141	768	27	1	1181	1	RBM47	4	40440295	Missense_Mutation	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08		40440295	150713981	11	12378											
TACR3	6870	broad.mit.edu	37	chr4	104510918	104510918	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagatttggaattcctgcgaGagcagccattgaaacttggg	11	10	12	8	1	0	3	0	1	0	2	1	5	1	4	2	2	4	1	2	2	2	4			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr4:104510918G>A	uc003hxe.1	-	4	1460	c.1319C>T	c.(1318-1320)tCt>tTt	p.S440F		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	440						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ATTCCTGCGAGAGCAGCCATT	0.478													68	107					0	0	1	0	0	A	104510918	G	A	104510918	3	1	289	1	0	0	0	0	1	0	0	0	15504	942	33	3	82	3	TACR3	4	104510918	Missense_Mutation	SNP	G	TCGA-QH-A65Z-01A-11D-A29Q-08	64070623	104510918	86643358	12	12379											
ABCE1	6059	broad.mit.edu	37	chr4	146044497	146044497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaaagactgatggcagctcGagttgtcaaacggtaaatat	14	9	11	7	2	1	2	1	1	0	1	2	3	1	2	0	2	2	5	0	2	5	3			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr4:146044497G>A	uc003ijx.3	+	14	1945	c.1505G>A	c.(1504-1506)cGa>cAa	p.R502Q	ABCE1_uc003ijy.3_Missense_Mutation_p.R502Q|ABCE1_uc010iot.3_Non-coding_Transcript	NM_001040876	NP_002931	P61221	ABCE1_HUMAN	Homo sapiens ATP-binding cassette, sub-family E (OABP), member 1 (ABCE1), transcript variant 2, mRNA.	502	ABC transporter 2.				RNA catabolic process|interspecies interaction between organisms|response to virus	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					ATGGCAGCTCGAGTTGTCAAA	0.383													37	32					0	0	1	0	0	A	146044497	G	A	146044497	3	1	289	1	0	0	0	0	1	0	0	0	64	1058	37	2	1559	2	ABCE1	4	146044497	Missense_Mutation	SNP	G	TCGA-QH-A65Z-01A-11D-A29Q-08	41533579	146044497	45109779	13	12380											
SDHA	6389	broad.mit.edu	37	chr5	218471	218471	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcggcggcaacagcagacAtgtcgggggtccggggcctg	6	4	19	12	5	0	1	0	0	0	1	2	1	1	1	2	6	2	2	2	6	1	0	rs1061517		TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr5:218471A>G	uc011clv.1	+	0	116	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	CCDC127_uc003jam.1_5'Flank|SDHA_uc003jao.4_Missense_Mutation_p.M1V|SDHA_uc011clw.2_Missense_Mutation_p.M1V	NM_004168	NP_004159	P31040	DHSA_HUMAN	Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (SDHA), nuclear gene encoding mitochondrial protein, mRNA.	1					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	AACAGCAGACATGTCGGGGGT	0.776									Familial Paragangliomas				11	20					0	0	1	0	0	G	218471	A	G	218471	3	3	289	1	0	0	0	0	1	0	0	0	13963	217	8	3	3	3	SDHA	5	218471	Missense_Mutation	SNP	A	TCGA-QH-A65Z-01A-11D-A29Q-08		218471	180696789	14	12381											
DNAJC21	134218	broad.mit.edu	37	chr5	34950354	34950354	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatactaacttaaatcaagAcagtgccaaagaattggaag	19	8	8	6	0	1	3	1	0	0	3	1	4	1	4	1	1	3	0	1	1	8	4			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr5:34950354A>G	uc003jjb.3	+	10	1627	c.1400A>G	c.(1399-1401)gAc>gGc	p.D467G	DNAJC21_uc003jjc.3_Missense_Mutation_p.D422G|DNAJC21_uc010iuu.1_Missense_Mutation_p.D319G|DNAJC21_uc003jjd.3_Non-coding_Transcript	NM_194283	NP_919259	Q5F1R6	DJC21_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 21 (DNAJC21), transcript variant 1, mRNA.	422					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding	p.D467Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TTAAATCAAGACAGTGCCAAA	0.358													3	47					0	0	1	0	0	G	34950354	A	G	34950354	3	3	289	1	0	0	0	0	1	0	0	0	4640	275	10	3	1442	3	DNAJC21	5	34950354	Missense_Mutation	SNP	A	TCGA-QH-A65Z-01A-11D-A29Q-08	34731883	34950354	145964906	15	12382											
PHF3	23469	broad.mit.edu	37	chr6	64423124	64423124	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caagcatcaaggtatataggCccgcagaatttttaccaggt	13	10	9	9	1	1	1	1	0	0	1	1	1	1	1	2	3	2	3	2	3	7	6			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr6:64423124C>G	uc003pep.1	+	14	5665	c.5640C>G	c.(5638-5640)ggC>ggG	p.G1880G	PHF3_uc003pen.2_Silent_p.G1792G|PHF3_uc011dxs.1_Silent_p.G1149G	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	1880					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GGTATATAGGCCCGCAGAATT	0.507													12	148					0	0	1	0	0	G	64423124	C	G	64423124	2	3	289	1	0	0	0	0	0	0	0	1	11836	726	26	5		5	PHF3	6	64423124	Silent	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08		64423124	106691943	16	12383											
TNS3	64759	broad.mit.edu	37	chr7	47408297	47408297	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagggggatgtggcccaCtgcctacacccctctggaca	7	8	12	14	0	2	0	1	0	1	0	2	2	2	2	4	4	2	0	4	4	1	1			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr7:47408297C>G	uc003tnw.3	-	16	2304	c.1946G>C	c.(1945-1947)aGt>aCt	p.S649T	TNS3_uc022acn.1_Missense_Mutation_p.S206T	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	649						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						ATGTGGCCCACTGCCTACACC	0.642													4	174					0	0	1	0	0	G	47408297	C	G	47408297	3	3	289	1	0	0	0	0	1	0	0	0	16341	565	20	5	2451	5	TNS3	7	47408297	Missense_Mutation	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08		47408297	111730366	17	12384											
SLC26A4	5172	broad.mit.edu	37	chr7	107314667	107314667	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctgagcatggcccccgaCgaacactttctcgtatccag	8	10	9	14	3	2	1	0	1	2	0	4	3	3	1	3	1	2	3	3	1	2	3			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr7:107314667C>T	uc003vep.3	+	4	698	c.474C>T	c.(472-474)gaC>gaT	p.D158D	Mir_548_uc022ajy.1_5'Flank	NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	158					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity	p.P157S(1)|p.P157P(1)|p.P157L(1)		central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TGGCCCCCGACGAACACTTTC	0.433									Pendred syndrome				5	80					0	0	1	0	0	T	107314667	C	T	107314667	2	4	289	1	0	0	0	0	0	0	0	1	14519	535	19	1		1	SLC26A4	7	107314667	Silent	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08	59906370	107314667	51823996	18	12385											
SGK223	157285	broad.mit.edu	37	chr8	8234817	8234819	+	In_Frame_Del	DEL	TCA	TCA	-																															cttctctggggcaggttcctTcatgagggagcagtaatcac																										TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr8:8234817_8234819delTCA	uc003wsh.4	-	1	1100_1102	c.1100_1102delTGA	c.(1099-1104)atgaag>aag	p.M367del		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	367							ATP binding|non-membrane spanning protein tyrosine kinase activity										GCAGGTTCCTTCATGAGGGAGCA	0.68													15	26	---	---	---	---						-	8234819	TCA	-	8234817	7	5	289	1	0	1	0	1	0	0	0	0	14210	1792	62	0	3122	0	SGK223	8	8234817	In_Frame_Del	DEL	TCA	TCGA-QH-A65Z-01A-11D-A29Q-08		8234817	138129205	19	12386											
CREB3	10488	broad.mit.edu	37	chr9	35736644	35736644	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcccatcctccccctgcAggcaaatctcacaaggaagg	11	6	9	15	0	1	0	1	0	1	0	5	1	4	1	4	4	1	2	4	4	3	0			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr9:35736644A>C	uc003zxv.3	+	8	1490	c.1037A>C	c.(1036-1038)cAg>cCg	p.Q346P	CREB3_uc010mla.3_Missense_Mutation_p.Q265P	NM_006368	NP_006359	O43889	CREB3_HUMAN	Homo sapiens cAMP responsive element binding protein 3 (CREB3), mRNA.	370	Pro-rich.				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	Golgi apparatus|cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|integral to membrane|nucleus	CCR1 chemokine receptor binding|DNA binding|cAMP response element binding protein binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		CTCCCCCTGCAGGCAAATCTC	0.567											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	69	187					0	0	1	0	0	C	35736644	A	C	35736644	3	2	289	1	0	0	0	0	1	0	0	0	3855	188	7	5	1071	5	CREB3	9	35736644	Missense_Mutation	SNP	A	TCGA-QH-A65Z-01A-11D-A29Q-08		35736644	105476787	20	12387											
SVEP1	79987	broad.mit.edu	37	chr9	113194246	113194246	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggacacatgaacatatgtAggatccatctacgttcaggc	12	10	10	9	1	2	1	1	1	1	0	3	3	3	3	1	3	2	2	1	3	4	4			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr9:113194246A>G	uc010mtz.3	-	31	5639	c.5302T>C	c.(5302-5304)Tac>Cac	p.Y1768H	SVEP1_uc010mty.3_5'Flank	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1768	EGF-like 7; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAACATATGTAGGATCCATCT	0.378													28	64					0	0	1	0	0	G	113194246	A	G	113194246	3	3	289	1	0	0	0	0	1	0	0	0	15417	420	15	4	5481	4	SVEP1	9	113194246	Missense_Mutation	SNP	A	TCGA-QH-A65Z-01A-11D-A29Q-08	77457602	113194246	28019185	21	12388											
CNNM1	26507	broad.mit.edu	37	chr10	101124220	101124220	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaaggccttcgctttgaaaAtggagcctttacttactatg	10	13	10	8	1	0	1	0	1	0	0	1	3	0	3	2	3	3	1	2	3	6	6			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr10:101124220A>G	uc010qpi.2	+	4	2364	c.2075A>G	c.(2074-2076)aAt>aGt	p.N692S	CNNM1_uc009xwe.3_Missense_Mutation_p.N692S|CNNM1_uc001kpp.4_Missense_Mutation_p.N692S|CNNM1_uc009xwf.3_Missense_Mutation_p.N692S|CNNM1_uc009xwg.3_Missense_Mutation_p.N92S	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	Homo sapiens cyclin M1 (CNNM1), mRNA.	692					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CGCTTTGAAAATGGAGCCTTT	0.423													7	15					0	0	1	0	0	G	101124220	A	G	101124220	3	3	289	1	0	0	0	0	1	0	0	0	3612	101	4	3	2093	3	CNNM1	10	101124220	Missense_Mutation	SNP	A	TCGA-QH-A65Z-01A-11D-A29Q-08		101124220	34410527	22	12389											
ACACB	32	broad.mit.edu	37	chr12	109616926	109616926	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccaggctcgcccatctttCtcatgaagctggcccagcac	7	9	8	17	1	2	1	1	1	2	0	5	1	3	1	3	2	2	3	3	2	1	1			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr12:109616926C>G	uc001tob.3	+	9	1590	c.1471C>G	c.(1471-1473)Ctc>Gtc	p.L491V	ACACB_uc001toc.3_Missense_Mutation_p.L491V	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	491	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GCCCATCTTTCTCATGAAGCT	0.562													14	27					0	0	1	0	0	G	109616926	C	G	109616926	3	3	289	1	0	0	0	0	1	0	0	0	107	913	32	5	1505	5	ACACB	12	109616926	Missense_Mutation	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08		109616926	24234969	23	12390											
RBBP6	5930	broad.mit.edu	37	chr16	24567746	24567747	+	Frame_Shift_Ins	INS	-	-	A																															gcttaccaacactggaaaatINSatgcaataccaactatagat																										TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr16:24567746_24567747insA	uc002dmh.3	+	6	1692_1693	c.652_653insA	c.(652-654)tatfs	p.Y218fs	RBBP6_uc010vcb.1_Frame_Shift_Ins_p.Y85fs|RBBP6_uc002dmi.3_Frame_Shift_Ins_p.Y218fs|RBBP6_uc010bxr.3_Frame_Shift_Ins_p.Y218fs|RBBP6_uc002dmk.3_Frame_Shift_Ins_p.Y85fs	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	218					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CACTGGAAAATATGCAATACCA	0.401													14	51	---	---	---	---						A	24567747	-	A	24567746	7	5	289	1	0	1	1	0	0	0	0	0	13103	1406	49	0	732	0	RBBP6	16	24567746	Frame_Shift_Ins	INS	-	TCGA-QH-A65Z-01A-11D-A29Q-08		24567746	65787007	24	12391											
ACSF3	197322	broad.mit.edu	37	chr16	89180794	89180794	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcccctcccagtgctggagaAgtggaagaacatcacgggcc	10	5	13	13	1	1	2	1	0	0	2	2	4	2	3	4	3	2	1	4	3	3	0			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr16:89180794A>G	uc010cig.2	+	4	1233	c.1025A>G	c.(1024-1026)aAg>aGg	p.K342R	ACSF3_uc010cih.2_Missense_Mutation_p.K77R|ACSF3_uc002fmp.3_Missense_Mutation_p.K342R|ACSF3_uc021tmq.1_Missense_Mutation_p.K342R|ACSF3_uc010cii.2_Non-coding_Transcript	NM_001127214	NP_777577	Q4G176	ACSF3_HUMAN	Homo sapiens acyl-CoA synthetase family member 3 (ACSF3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	342					fatty acid metabolic process	mitochondrion	ATP binding|acid-thiol ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GTGCTGGAGAAGTGGAAGAAC	0.647													32	90					0	0	1	0	0	G	89180794	A	G	89180794	3	3	289	1	0	0	0	0	1	0	0	0	176	72	3	4	1039	4	ACSF3	16	89180794	Missense_Mutation	SNP	A	TCGA-QH-A65Z-01A-11D-A29Q-08	64613048	89180794	1173959	25	12392											
MED24	9862	broad.mit.edu	37	chr17	38188968	38188968	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagactcaatgagccccacGaagcaagctttccagatctc	12	7	9	13	1	2	3	1	1	1	2	4	5	3	3	3	1	3	2	3	1	3	1			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr17:38188968G>T	uc002hts.3	-	7	1145	c.945C>A	c.(943-945)ttC>ttA	p.F315L	MED24_uc010wes.2_Missense_Mutation_p.F150L|MED24_uc010wet.2_Intron|MED24_uc002htt.3_Missense_Mutation_p.F290L|MED24_uc002htu.3_Missense_Mutation_p.F277L|MED24_uc010cwn.3_Missense_Mutation_p.F277L|MED24_uc010weu.2_Missense_Mutation_p.F200L|MED24_uc010wev.1_Missense_Mutation_p.F240L|MED24_uc010wew.1_Missense_Mutation_p.F219L|MED24_uc010wex.1_Intron|MED24_uc010wez.1_Missense_Mutation_p.F131L|MED24_uc010wfa.1_Missense_Mutation_p.F259L|MED24_uc010wfb.1_Missense_Mutation_p.F302L	NM_014815	NP_055630	O75448	MED24_HUMAN	Homo sapiens mediator complex subunit 24 (MED24), transcript variant 1, mRNA.	290					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TGAGCCCCACGAAGCAAGCTT	0.577													23	21					6.21321e-17	6.61842e-17	1	1	0	T	38188968	G	T	38188968	3	4	289	1	0	0	0	0	1	0	0	0	9442	1049	37	5	2171	5	MED24	17	38188968	Missense_Mutation	SNP	G	TCGA-QH-A65Z-01A-11D-A29Q-08		38188968	43006242	26	12393											
FAM20A	54757	broad.mit.edu	37	chr17	66533685	66533685	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggccgtcgactatgacaCtctgctgtccatgggccact	6	10	11	14	2	1	1	0	1	1	0	3	2	2	1	3	2	1	1	3	2	1	1			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr17:66533685C>G	uc002jho.3	-	10	1847	c.1559G>C	c.(1558-1560)aGt>aCt	p.S520T	FAM20A_uc010wqp.2_Missense_Mutation_p.S382T|FAM20A_uc002jhn.3_Missense_Mutation_p.S231T	NM_017565	NP_001230675	Q96MK3	FA20A_HUMAN	Homo sapiens family with sequence similarity 20, member A (FAM20A), transcript variant 1, mRNA.	520						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					GACTATGACACTCTGCTGTCC	0.572													3	30					0	0	1	0	0	G	66533685	C	G	66533685	3	3	289	1	0	0	0	0	1	0	0	0	5537	565	20	5	70	5	FAM20A	17	66533685	Missense_Mutation	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08	28344717	66533685	14661525	27	12394											
ZACN	353174	broad.mit.edu	37	chr17	74075804	74075805	+	Frame_Shift_Ins	INS	-	-	CC																															catcctgcgatacacaatgtINScctccatgctgctgcttagg																										TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr17:74075804_74075805insCC	uc002jqn.2	+	2	327_328	c.244_245insCC	c.(244-246)tccfs	p.S82fs	ZACN_uc002jqo.2_Non-coding_Transcript|ZACN_uc010dgu.2_Intron	NM_180990	NP_851321	Q401N2	ZACN_HUMAN	Homo sapiens zinc activated ligand-gated ion channel (ZACN), mRNA.	82					response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						ATACACAATGTCCTCCATGCTG	0.569													21	55	---	---	---	---						CC	74075805	-	CC	74075804	7	5	289	1	0	1	1	0	0	0	0	0	17507	1667	58	0	254	0	ZACN	17	74075804	Frame_Shift_Ins	INS	-	TCGA-QH-A65Z-01A-11D-A29Q-08	7542119	74075804	7119406	28	12395											
ARRDC5	645432	broad.mit.edu	37	chr19	4891396	4891396	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcgtgaagccctcgtactGtatgtgggcatacagggcga	8	8	16	9	3	0	1	0	1	0	0	1	2	0	1	1	3	3	3	1	3	4	3			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr19:4891396G>C	uc002mbm.3	-	2	691	c.691C>G	c.(691-693)Cag>Gag	p.Q231E		NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN	Homo sapiens arrestin domain containing 5 (ARRDC5), mRNA.	231					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		CCCTCGTACTGTATGTGGGCA	0.587													13	31					0	0	1	0	0	C	4891396	G	C	4891396	3	2	289	1	0	0	0	0	1	0	0	0	986	1386	48	5	341	5	ARRDC5	19	4891396	Missense_Mutation	SNP	G	TCGA-QH-A65Z-01A-11D-A29Q-08		4891396	54237587	29	12396											
CIC	23152	broad.mit.edu	37	chr19	42797776	42797777	+	Frame_Shift_Del	DEL	GC	GC	-																															cccagctcatcttcagactgGcgcgtccctgggcagggcct																										TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr19:42797776_42797777delGC	uc002otf.1	+	15	3868_3869	c.3828_3829delGC	c.(3826-3831)tggcgcfs	p.W1276fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1276	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CTTCAGACTGGCGCGTCCCTGG	0.649			"Mis, F, S"		oligodendroglioma								10	8	---	---	---	---						-	42797777	GC	-	42797776	7	5	289	1	0	1	0	1	0	0	0	0	3424	1212	42	0	3890	0	CIC	19	42797776	Frame_Shift_Del	DEL	GC	TCGA-QH-A65Z-01A-11D-A29Q-08	37906380	42797776	16331207	30	12397											
CIC	23152	broad.mit.edu	37	chr19	42798989	42798990	+	Frame_Shift_Ins	INS	-	-	A																															ctccagcccaggccacagccINSgccttccaggcccgctatgc																								rs148444899		TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr19:42798989_42798990insA	uc002otf.1	+	19	4513_4514	c.4473_4474insA	c.(4471-4476)gccgccfs	p.A1491fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGGCCACAGCCGCCTTCCAGGC	0.574			"Mis, F, S"		oligodendroglioma								8	71	---	---	---	---						A	42798990	-	A	42798989	7	5	289	1	0	1	1	0	0	0	0	0	3424	639	23	0	4551	0	CIC	19	42798989	Frame_Shift_Ins	INS	-	TCGA-QH-A65Z-01A-11D-A29Q-08	1213	42798989	16329994	31	12398											
PPP1R13L	10848	broad.mit.edu	37	chr19	45895364	45895364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggggcagggccacagcagggGcctgctccatggagcccctg	6	4	17	14	0	0	0	0	0	0	0	1	1	1	1	5	6	3	3	5	6	0	0			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr19:45895364G>A	uc002pbn.3	-	7	1666	c.1589C>T	c.(1588-1590)gCc>gTc	p.A530V	PPP1R13L_uc002pbm.3_Missense_Mutation_p.A109V|PPP1R13L_uc002pbo.3_Missense_Mutation_p.A530V	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.	530	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CACAGCAGGGGCCTGCTCCAT	0.687													12	53					0	0	1	0	0	A	45895364	G	A	45895364	3	1	289	1	0	0	0	0	1	0	0	0	12358	1203	42	3	921	3	PPP1R13L	19	45895364	Missense_Mutation	SNP	G	TCGA-QH-A65Z-01A-11D-A29Q-08	3096375	45895364	13233619	32	12399											
PRR12	57479	broad.mit.edu	37	chr19	50100109	50100109	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagccacctccaccgccAcccccgcctccaccacccat	7	3	3	28	2	0	0	0	0	0	0	2	0	2	0	13	0	1	0	13	0	0	0			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr19:50100109A>C	uc002poo.4	+	3	2517	c.2517A>C	c.(2515-2517)ccA>ccC	p.P839P		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	18							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CTCCACCGCCACCCCCGCCTC	0.741													3	2					0	0	1	0	0	C	50100109	A	C	50100109	2	2	289	1	0	0	0	0	0	0	0	1	12584	146	6	5		5	PRR12	19	50100109	Silent	SNP	A	TCGA-QH-A65Z-01A-11D-A29Q-08	4204745	50100109	9028874	33	12400											
LAMA5	3911	broad.mit.edu	37	chr20	60888747	60888747	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgacgtagaagacgaagtcGtctggccgcaggttgagcag	10	6	15	10	5	1	3	0	1	1	2	2	5	1	3	2	2	1	4	2	2	3	2			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr20:60888747G>A	uc002ycq.3	-	62	8683	c.8616C>T	c.(8614-8616)gaC>gaT	p.D2872D	LAMA5_uc021wfw.1_Silent_p.D2872D	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	2872	Laminin G-like 1.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGACGAAGTCGTCTGGCCGCA	0.662													67	83					0	0	1	0	0	A	60888747	G	A	60888747	2	1	289	1	0	0	0	0	0	0	0	1	8609	1136	40	1		1	LAMA5	20	60888747	Silent	SNP	G	TCGA-QH-A65Z-01A-11D-A29Q-08		60888747	2136773	34	12401											
ITSN1	6453	broad.mit.edu	37	chr21	35183494	35183494	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctcttcagagccctccacGacccctaataactgggccga	10	7	7	17	2	2	1	1	0	1	1	3	3	3	1	6	1	2	0	6	1	2	3			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr21:35183494G>A	uc002yta.1	+	20	2803	c.2535G>A	c.(2533-2535)acG>acA	p.T845T	DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_Silent_p.T724T|ITSN1_uc002ysy.3_Silent_p.T840T|ITSN1_uc002ysx.3_Silent_p.T803T|ITSN1_uc002yth.4_Non-coding_Transcript|ITSN1_uc002ysz.3_Silent_p.T840T|ITSN1_uc010gmg.3_Silent_p.T803T|ITSN1_uc010gmh.3_Non-coding_Transcript|ITSN1_uc002ysw.3_Silent_p.T845T|ITSN1_uc010gmi.3_Silent_p.T808T|ITSN1_uc002ytb.1_Silent_p.T840T|ITSN1_uc002ytc.1_Silent_p.T840T|ITSN1_uc010gmk.3_Silent_p.T808T|ITSN1_uc010gml.3_Non-coding_Transcript|ITSN1_uc002ytd.3_Non-coding_Transcript|ITSN1_uc002ytj.2_Silent_p.T840T|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002yte.3_Silent_p.T779T|ITSN1_uc021wip.1_Silent_p.T734T|ITSN1_uc002ytf.1_Non-coding_Transcript	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	845					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	Rho guanyl-nucleotide exchange factor activity|calcium ion binding|proline-rich region binding|protein complex scaffold			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGCCCTCCACGACCCCTAATA	0.547													36	97					0	0	1	0	0	A	35183494	G	A	35183494	2	1	289	1	0	0	0	0	0	0	0	1	7926	1045	37	2		2	ITSN1	21	35183494	Silent	SNP	G	TCGA-QH-A65Z-01A-11D-A29Q-08		35183494	12946401	35	12402											
MOV10L1	54456	broad.mit.edu	37	chr22	50538030	50538030	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctctggagagtgtgtgcgaAggtatgctcaggggtctgtg	6	12	17	6	1	3	1	1	0	2	1	4	3	3	1	0	4	2	2	0	4	2	1			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr22:50538030A>T	uc003bjj.3	+	3	525	c.442_splice	c.e3+1	p.G148_splice	MOV10L1_uc003bjk.4_Splice_Site_p.G148_splice|MOV10L1_uc011arp.2_Splice_Site_p.G128_splice|MOV10L1_uc010han.3_Splice_Site_p.G128_splice	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	148					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GTGTGTGCGAAGGTATGCTCA	0.512													14	41					0	0	1	0	0	T	50538030	A	T	50538030	5	4	289	1	0	0	0	0	0	0	1	0	9719	86	3	5	492	5	MOV10L1	22	50538030	Splice_Site	SNP	A	TCGA-QH-A65Z-01A-11D-A29Q-08		50538030	766536	36	12403											
XPNPEP2	7512	broad.mit.edu	37	chrX	128879232	128879232	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtggattacaggctttacAgggtctgcaggtgacaatca	10	10	13	8	1	2	1	1	1	1	0	2	2	2	2	0	4	3	2	0	4	3	3			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chrX:128879232A>T	uc004eut.1	+	3	532	c.288A>T	c.(286-288)acA>acT	p.T96T	XPNPEP2_uc011mum.2_Silent_p.T96T	NM_003399	NP_003390	O43895	XPP2_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound (XPNPEP2), mRNA.	96					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CAGGCTTTACAGGGTCTGCAG	0.488													3	30					0	0	1	0	0	T	128879232	A	T	128879232	2	4	289	1	0	0	0	0	0	0	0	1	17440	175	7	5		5	XPNPEP2	23	128879232	Silent	SNP	A	TCGA-QH-A65Z-01A-11D-A29Q-08		128879232	26391328	37	12404											
